ALPORT (COL4A5) Database

  • Reference sequences were NC_000023.9 and NM_000495.3. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Classification of "Moderate" indicates age of onset >30.


1309 variants found

Genomic Position Location Mutation Type Original cDNA Report Nucleotide Change Protein Change Classification References Comments
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
107683356 Exon 01-36 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Uliana (2011)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01 Missense 203A>G c.1A>G p.Met1Val Pathogenic Lemmink (1997)
107683356 Exon 01-04 Large Deletion never used c.1-?_ 276+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01-18 Large Deletion never used c.1-?_ 1032+?del p.? Pathogenic Hertz (2008)
107683356 Exon 01-18 Large Deletion never used c.1-?_1032+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Plant (1999)
107683356 Exon 01-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
107683356 Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Barker (2001)
107683356 Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Nozu (2008)
107683356 Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Hoischen (2009)
107683357 Exon 01 Deletion 204_205delTG c.2_3delTG p.Met1fs Pathogenic King (2006)
107683368 Exon 01 Nonsense 215G>T c.13G>T p.Gly5X Pathogenic Cruz-Robles (1999)
107683396 Exon 01 Insertion never used c.41_42insTCTT p.Leu14fs Pathogenic Hertz (2008)
107683404 Exon 01 Deletion never used c.49_50delCT p.Leu17fs Pathogenic Ellison (2009)
107683420 Exon 01 Deletion c.267_279del13 c.65_77del p.Gln22fs Pathogenic Bekheirnia (2010)
107683437 Intron 01 Splice Site c.283+1G>C c.81+1G>C p.? Pathogenic Bekheirnia (2010)
107755277 Exon 02-36 Large Duplication never used c.82-27.699_3246
+16.073dup
p.Ala28_Lys1082dup Pathogenic Arrondel (2004)
107782976 Exon 02-08 Large Deletion never used c.82-?_ 465+?del p.? Pathogenic Martin (1998)
107782976 Exon 02-19 Large Deletion never used c.82-?_ 1165+?del p.? Pathogenic Lemmink (1997)
107782976 Exon 02-36 Large Deletion never used c.82-?_ 3246+?del p.? Pathogenic Lemmink (1997)
107782976 Exon 02-37 Large Deletion never used c.82-?_ 3373+?del p.? Pathogenic King(2006)
107782976 Exon 02-51 Large Deletion never used c82-?_5058+?del p.? Pathogenic Plant (1999)
107782976 Exon 02-51 Large Deletion never used c82-?_5058+?del p.? Pathogenic Plant (1999)
107782976 Exon 02 Large Deletion c.284-?_343+?del c.82-?_141+?del p.? Pathogenic Bekheirnia (2010)
107782981 Exon 02 Nonsense never used c.87C>A p.Cys29X Pathogenic Savige (2008)
107782984 Exon 02 Nonsense 292T>G c.90T>G p.Tyr30X Pathogenic Martin (2000)
107783001 Exon 02 Nonsense c.107C>G p.Ser36X Pathogenic Wang (2012)
107783013 Exon 02 Deletion never used c.119delG p.Cys40fs Pathogenic Tazon-Vega (2007)
107802293 Intron 02 Splice Site 344-1G>A c.142-1G>A p.? Pathogenic Plant (1999)
107802294 Exon 03-37 Large Deletion never used c.142-?_ 3373+?del p.? Pathogenic Barker (2001)
107802294 Exon 03-31 Large Deletion c.344-?_2879+?del c.142-?_2677+?del p.? Pathogenic Bekheirnia (2010)
107802294 Exon 03 Missense never used c.142G>A p.Gly48Arg Moderate Tan (2010)
107802303 Exon 03 Insertion c.353insA355insT c.151_152insA
+156dup
p.Gly51fs Pathogenic Bekheirnia (2010)
107802303 Exon 03 Large Deletion c.344-?_433+?del c.142-?_231+?del p.? Pathogenic Bekheirnia (2010)
107802313 Exon 03 Missense 363G>A c.161G>A p.Gly54Asp Moderate Turco (1995)
107802384 Intron 03 Splice Site 433+1G>A c.231+1G>A p.? Pathogenic Barker (2001)
107807111 Intron 03 Splice Site 434-1G>T c.232-1G>T p.? Pathogenic Barker (2001)
107807111 Intron 03 Splice Site c.434-1G>T c.232-1G>A p.? Pathogenic Bekheirnia (2010)
107807112 Exon 04/05-26 Large Deletion never used c.232-?_ 2041+?del p.? Pathogenic Lemmink (1997)
107807112 Exon 04-13 Large Deletion never used c.232-?_ 780+?del p.? Pathogenic Lemmink (1997)
107807112 Exon 04-47 Large Deletion never used c.232-?_ 4510+?del p.? Pathogenic Lemmink (1997)
107807130 Exon 04 Deletion 452delG c.250delG p.Gly84fs Pathogenic Plant (1999)
107807142 Exon 04 Missense c.262C>T p.Pro88Ser Pathogenic Wang (2012)
107807161 Intron 04 Splice Site never used c.276+5G>A p.? Pathogenic Nagel (2005)
107807161 intron 04 Splice site c.276+5G>T p.Gly78_Arg92 del Pathogenic Wang (2012)
107811858 Intron 04 Splice Site 479-1G>T c.277-1G>T p.? Moderate Plant (1999)
107811859 Exon 05-10 Large Deletion never used c.277-?_ 609+?del p.? Pathogenic Barker (1990)
107811868 Exon 05 Missense never used c.286G>A p.Gly96Arg Pathogenic Bekheirnia (2010)
107811875 Exon 05 Deletion 495delC c.293delC p.Pro98fs Pathogenic Barker (2001)
107811988 Intron 05 Splice Site 524-1G>A c.322-1G>A p.? Pathogenic Plant (1999)
107812018 Exon 06 Deletion never used c.351_359 del p.Pro118_Gly120del Pathogenic Savige (2008)
107812018 Exon 06 Deletion never used c.351_359del p.Pro118_Gly120del Moderate Tan (2010)
107812026 Exon 06 InDel c.359_363delGTATTinsATAC p.Gly120fs Moderate Wang (2013)
107812034 Exon 06 Missense c.367G>A p.Gly123Arg Pathogenic Wang (2012)
107812035 Exon 06 Deletion never used c.368delG p.Gly123fs Pathogenic Nagel (2005)
107812051 Exon 06 Splice Site c.384G>A p.Gly108-Lys128del Pathogenic Wang (2012)
107813924 Intron 06 Splice site c.384-+ 1873 G>A c.385-719 G>A p.? Pathogenic King (2002)
107814642 Intron 06 Splice Site 587-1G>C c.385-1G>C p.? Pathogenic Hertz (2001)
107814643 Exon 07 Missense never used c.385G>A p.Gly129Arg Moderate Bekheirnia (2010)
107814644 Exon 07 Missense 588G>A c.386G>A p.Gly129Glu Pathogenic Lemmink (1997)
107814644 Exon 07 Missense 588G>T c.386G>T p.Gly129Val Pathogenic Lemmink (1997)
107814646 Exon 07 Nonsense 590G>T c.388G>T p.Glu130X Pathogenic Plant (1999)
107814688 Exon 07 Missense 632G>A c.430G>A p.Gly144Ser Pathogenic Plant (1999)
107814688 Exon 07 Missense never used c.430G>C p.Gly144Arg Moderate Ma (2011)
107814689 Exon 07 Missense never used c.431G>A p.Gly144Asp Pathogenic Bekheirnia (2010)
107814698 Intron 07 Splice Site never used c.438+2T>C p.? Pathogenic Ma (2011)
107814701 Intron 07 Splice Site c.640+5G>A c.438+5G>A p.? Pathogenic Bekheirnia (2010)
107815042 Exon 08 Deletion 642del G c.440delG p.Gly147fs Pathogenic Inoue (1999)
107815043 Exon 08 Insertion never used c.441_442insC p.Pro148fs Pathogenic Nagel (2005)
107815048 Exon 08 Deletion 648delC c.446delC p.Pro149fs Pathogenic Martin (1998)
107816787 Intron 08 Splice Site never used c.466-17T>G p.? Pathogenic Nagel (2005)
107816792 Intron 08 Splice Site 668-12G>A c.466-12G>A p.? Pathogenic Wang (2005)
107816802 Intron 08 Splice Site 668-2A>G c.466-2A>G p.? Pathogenic Hertz (2001)
107816814 Exon 09 Deletion never used c.476del p.Gly159fs Pathogenic Ma (2011)
107816858 Exon 09 Missense 722G>C c.520G>C p.Gly174Arg Pathogenic Renieri (1996)
107816867 Exon 09 missense 731 G>T c.529 G>T p. Gly177Cys Pathogenic Blasi (2000)
107816867 Exon 09 Missense 731G>C c.529G>C p.Gly177Arg Moderate Renieri (1996)
107816871 Exon 09 Deletion 735delC c.533delC p.Pro178fs Pathogenic Knebelmann (1996)
107816876 Exon 09 Missense never used c.538G>A p.Gly180Arg Pathogenic Bekheirnia (2010)
107816882 Intron 09 Splice Site 746_748+4
delCAAgtaa
c.544_546+4
delCAAgtaa
p.? Pathogenic Bekheirnia (2010)
107816882 Exon 09 Nonsense c.544C>T p.Gln182X Pathogenic Wang (2012)
107816885 Intron 09 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A p.? Moderate Knebelmann (1996)
107816887 Intron 09 Splice Site 748+3insT c.546+3insT p.? Moderate Knebelmann (1996)
107819138 Intron 09 Splice Site c.749-2A>G c.547-2A>G p.? Pathogenic Bekheirnia (2010)
107819139 Intron 09 Splice Site 749-1G>A c.547-1G>A p.? Pathogenic Hertz (2001)
107819141 Exon 10 Missense never used c.548G>T p.Gly183Val Pathogenic Nagel (2005)
107819143 Exon 10 Insertion 752_753insC c.550dup p.Leu184fs Pathogenic Martin (1998)
107819166 Exon 10 Insertion never used c.573_574insGA p.Gly192fs Pathogenic Ma (2011)
107819167 Exon 10 Missense 776G>A c.574G>A p.Gly192Arg Pathogenic Barker (2001)
107819177 Exon 10 Missense 786G>A c.584G>A p.Gly195Asp Pathogenic Hertz (2001)
107819186 Exon 10 Missense 795G>A c.593G>A p.Gly198Glu Pathogenic Slajpah (2007)
107819195 Exon 10 Missense 804G>T c.602G>T p.Gly201Val Moderate Hertz (2001)
107819203 Intron 10 Splice Site 811+1G>A c.609+1G>A p.? Pathogenic Hertz (2001)
107819223 Intron 10 Splice Site 811+21T>C c.609+21T>C p.? Benign Barker (2001)
107821180 Intron 10 Splice Site 812-2T>A c.610-2T>A p.? Pathogenic Knebelmann (1996)
107821180 Intron 10 Splice Site never used c.610-2A>G p.? Pathogenic Tazon-Vega (2007)
107821182 Exon 11 Deletion 812_830del19 c.610_628del19 p.Gly204fs Pathogenic Inoue (1999)
107821183 Exon 11 Missense 813G>A c.611G>A p.Gly204Asp Pathogenic Gross (2002)
107821183 Exon 11 Missense 813G>T c.611G>T p.Gly204Val Pathogenic Knebelmann (1996)
107821183 Exon 11 Deletion c.813_814delGC c.611_612del p.Gly204fs Pathogenic Bekheirnia (2010)
107821206 Exon 11 Deletion 836delC c.634delC p.Pro212fs Pathogenic Renieri (1996)
107821210 Exon 11 Missense 840G>A c.638G>A p.Gly213Glu Pathogenic King (2006)
107821296 Intron 11 Deletion never used c.646-11_12 del TT p. G216_K229 del Pathogenic Tazon-Vega (2007)
107821305 Intron 11 Splice Site 848-3C>A c.646-3C>A p.? Pathogenic Plant (1999)
107821308 Exon 12 Missense 848G>A c.646G>A p.Gly216Arg Pathogenic Martin (2000)
107821309 Exon 12 Missense never used c.647G>T p.Gly216Val Pathogenic Tazon-Vega (2007)
107821309 Exon 12 Duplication never used c.647_648dup p.Asn217fs Pathogenic Nagel (2005)
107821309 Exon 12 Missense c.647G>A p.Gly216Glu Pathogenic Wang (2012)
107821310 Exon 12 Duplication never used c.648dup p.Asn217fs Pathogenic Nagel (2005)
107821317 Exon 12 Missense 857G>A c.655G>A p.Gly219Ser Pathogenic Renieri (1996)
107821327 Exon12 Missense never used c.665T>G p.Phe222Cys Pathogenic Becknell (2011)
107821344 Exon 12 Nonsense never used c.682G>T p.Glu228X Pathogenic Demosthenous (2011)
107821350 Intron 12 Splice Site 889+1G>A c.687+1G>A p.? Moderate Lemmink (1997)
107821351 Intron 12 Splice site c.687+2T>C p.Gly216_Lys229del Pathogenic Wang (2012)
107821518 Intron 12 Splice Site 890-3C>G c.688-3C>G p.? Pathogenic Knebelmann (1996)
107821521 Exon 13 Missense 890G>C c.688G>C p.Gly230Arg Pathogenic Knebelmann (1996)
107821522 Exon 13 Deletion 891delG c.689delG p.Gly230fs Pathogenic Knebelmann (1996)
107821522 Exon 13 Missense never used c.689G>A p.Gly230Asp Pathogenic Bekheirnia (2010)
107821548 Exon 13 Missense c.715G>A p.Gly239Arg Pathogenic Wang (2012)
107821549 Exon 13 Missense 918G>A c.716G>A p.Gly239Glu Pathogenic Knebelmann (1996)
107821594 Exon 13 Deletion 963_964delAG c.761_762delAG p.Glu254fs Pathogenic Kawai (1996)
107821615 Intron 13 Splice Site never used c.780+2 T>G p.? Pathogenic Tazon-Vega (2007)
107823762 Intron 13 Splice Site 983-1del7 c.781 -1del7 p.? Moderate Kawai (1996)
107823763 Exon 14-51 Large Deletion never used c.781-?_ 5058+?del p.? Pathogenic Lemmink (1997)
107823763 Exon 14-21 Large Deletion never used c.781-?_1423+?del p.? Pathogenic Bekheirnia (2010)
107823770 Exon 14 Deletion never used c.788delC p.Pro263fs Pathogenic Ma (2011)
107823772 Exon 14 Missense 992G>C c.790G>C p.Gly264Arg Moderate Knebelmann (1996)
107823773 Exon 14 Missense never used c.791G>A p.Gly264Asp Pathogenic Nagel (2005)
107823778 Exon 14 Nonsense 998C>T c.796C>T p.Arg266X Pathogenic Wang (2005)
107823794 Exon 14 Deletion 1014delC c.812delC p.Pro271fs Pathogenic Gross (2002)
107823817 Intron 14 Splice Site 1036+1G>A c.834+1G>A p.? Moderate Knebelmann (1996)
107823821 Intron 14 Splice Site 1036+5G>T c.834+5G>T p.? Pathogenic Wang (2005)
107823821 Intron 14 Splice site c.834+5G>A p.Gly261_Pro278del Pathogenic Wang (2012)
107823936 Exon 15 Nonsense 1061G>T c.859 G>T p.Glu287X Pathogenic Lemmink (1997)
107823940 Exon 15 Deletion c.863del p.Lys288fs Pathogenic Wang (2012)
107823943 Exon 15 Nonsense 1068G>T c.866 G>T p.Glu289Val Pathogenic Lemmink (1997)
107823943 Exon 15 Deletion c.1068delC c.866delG p.Gly289fs Pathogenic Bekheirnia (2010)
107823950 Exon 15 Deletion c.1075delA c.873delA p.Gly292fs Pathogenic Bekheirnia (2010)
107823951 Exon 15 Missense 1076G>C c.874G>C p.Gly292Arg Moderate Barker (2001)
107823952 Exon 15 Missense 1077G>T c.875G>T p.Gly292Val Pathogenic Lemmink (1997)
107823952 Exon 15 Deletion c.1077delG c.875delG p.Gly292fs Pathogenic Bekheirnia (2010)
107823961 Exon 15 Missense 1086G>A c.884G>A p.Gly295Asp Moderate Barker (2001)
107823969 Intron 15 Splice Site 1093+1G>A c.891+1G>A p.? Pathogenic Knebelmann (1996)
107824211 Intron 15 Splice Site 1094-2A>G c.892-2A>G p.? Moderate Lemmink (1997)
107824212 Intron 15 Splice Site 1094-1G>C c.892-1G>C p.? Pathogenic Lemmink (1997)
107824213 Exon 16 Missense 1094G>A c.892G>A p.Gly298Ser Pathogenic Knebelmann (1996)
107824234 Exon 16 Nonsense 1115G>T c.913G>T p.Glu305X Pathogenic Plant (1999)
107824241 Exon 16 Missense 1122G>A c.920G>A p.Gly307Asp Moderate Gross (2002)
107824249 Exon 16 Missense 1130G>A c.928G>A p.Gly310Arg Pathogenic Slajpah (2007)
107826113 Intron 16 Splice Site never used c.937-1G>A p.? Pathogenic Nagel (2005)
107826114 Exon 17 Large Deletion never used c.937-?_990+?del p.? Pathogenic Lemmink (1997)
107826114 Exon 17 Missense 1139G>A c.937G>A p.Gly313Ser Pathogenic King (2006)
107826122 Exon 17 Insertion 1147_1148insT c.945_946insT p.Gly316fs Pathogenic Martin (1998)
107826132 Exon 17 Missense never used c.955G>C p.Gly319Arg Pathogenic Cheong (2000)
107826133 Exon 17 Missense 1158G>A c.956G>A p.Gly319Asp Pathogenic Slajpah (2007)
107826137 Exon 17 Nonsense never used c.960C>A p.Tyr320X Pathogenic Bekheirnia (2010)
107826142 Exon 17 Missense c.965G>A p.Gly322Asp Pathogenic Wang (2012)
107826147 Exon 17 Silent 1172C>T c.970C>T p.= Benign Plant (1999)
107826150 Exon 17 Missense 1175G>A c.973G>A p.Gly325Arg Moderate Barker (2001)
107826150 Exon 17 Nonsense 1175G>T c.973G>T p.Gly325X Pathogenic Kawai (1996)
107826151 Exon 17 Missense 1176G>A c.974G>A p.Gly325Glu Pathogenic Renieri (1996)
107827715 Exon 18 Missense 1194G>T c.992G>T p.Gly331Val Pathogenic Plant (1999)
107827716 Exon 18 Missense never used c.1001G>T p.Gly334Val Pathogenic Hertz (2008)
107827758 Intron 18 Splice Site 1234+3delAAGT c.1032+3_1032+6
delAAGT
p.? Pathogenic Knebelmann (1996)
107827760 Intron 18 Splice Site 1234+5G>T c.1032+5G>T p.? Moderate Slajpah (2007)
107829830 Intron 18 Splice Site 1235-15delT c.1033-15delT p.? Benign Barker (2001)
107829845 Exon 19-22 Large Deletion never used c.1033-?_1516+?del p.? Pathogenic Lemmink (1997)
107829872 Exon 19 Insertion c.1262_1263insA c.1060dup p.Thr354fs Pathogenic Bekheirnia (2010)
107829874 Exon 19 Insertion 1264_1265insT c.1062dup p.Ile355fs Pathogenic Barker (2001)
107829886 Exon 19 Deletion 1276delA c.1074delA p.Lys358fs Pathogenic Kawai (1996)
107829896 Exon 19 Missense never used c.1084G>A p.Gly362Arg Pathogenic Bekheirnia (2010)
107829906 Exon 19 Missense 1296G>A c.1094G>A p.Gly365Glu Pathogenic Lemmink (1997)
107829907 Exon 19 Silent 1297G>C c.1095G>C p.= Benign Barker (2001)
107829924 Exon 19 Missense 1314G>A c.1112G>A p.Gly371Glu Pathogenic Renieri (1996)
107829929 Exon 19 Nonsense 1319C>T c.1117C>T p.Arg373X Pathogenic Renieri (1996)
107829933 Exon 19 Missense 1323G>C c.1121G>C p.Gly374Ala Pathogenic Renieri (1996)
107829947 Exon 19 Nonsense never used c.1135C>T p.Gln379X Pathogenic Tug (2011)
107829951 Exon 19 Missense never used c.1139G>A p.Gly380Asp Pathogenic Tazon-Vega (2007)
107829960 Exon 19 Missense 1350G>A c.1148G>A p.Gly383Asp Pathogenic Kawai (1996)
107829978 Intron 19 Splice Site 1367+1G>A c.1165+1G>A p.? Pathogenic Renieri (1996)
107829979 Intron 19 Splice Site 1367+2T>G c.1165+2T>G p.? Pathogenic Renieri (1996)
107834287 Intron 19 Splice site c.1166-1G>A p.Ala360fs Pathogenic Wang (2012)
107834288 Exon 20-21 Large Deletion never used c.1166-?_1423+?del p.? Pathogenic Lemmink (1997)
107834288 Exon 20-22 Large Deletion never used c.1166-?_1516+?del p.? Pathogenic Hertz (2008)
107834288 Exon 20-26 Large Deletion never used c.1166-?_2041+?del p.? Pathogenic Lemmink (1997)
107834303 Exon 20 Deletion c.1383delG c.1181del p.Glu394fs Pathogenic Bekheirnia (2010)
107834313 Exon 20 Silent 1393C>G c.1191C>G p.= Benign Wang (2005)
107834321 Exon 20 Missense 1401G>A c.1199G>A p.Gly400Glu Moderate Plant (1999)
107834330 Exon 20 Missense 1410G>T c.1208G>T p.Gly403Val Pathogenic Wang (2005)
107834335 Exon 20 Duplication never used c.1213dup p.Arg405fs Pathogenic Tan (2010)
107834336 Exon 20 Insertion 1416_1417insA c.1214_1215insA p.Arg405fs Pathogenic Knebelmann (1996)
107834339 Exon 20 Insertion 1419_1420
insGGGG
c.1217ins_1218
GGGG
p.Gly406fs Pathogenic Renieri (1996)
107834339 Exon 20 Missense 1419G>T c.1217G>T p.Gly406Val Moderate Renieri (1996)
107834342 Exon 20 Nonsense 1422C>T c.1220C>T p.Gln407X Pathogenic Hertz (2001)
107834344 Exon 20 Nonsense never used c.1222A>T p.Lys408X Pathogenic Bekheirnia (2010)
107834348 Exon 20 Missense 1428G>A c.1226G>A p.Gly409Asp Pathogenic Renieri (1996)
107834357 Exon 20 Missense 1437G>T c.1235G>T p.Gly412Val Moderate Knebelmann (1996)
107834365 Exon 20 Missense 1445G>A c.1243G>A p.Gly415Arg Pathogenic Martin (2000)
107834380 Exon 20 Deletion never used c.1254delT p.Pro419fs Pathogenic Nagel (2005)
107834381 Exon 20 Missense 1461G>A c.1259G>A p.Gly420Glu Pathogenic Knebelmann (1996)
107834381 Exon 20 Missense 1461G>T c.1259G>T p.Gly420Val Pathogenic Martin (1998)
107834387 Exon 20 Deletion 1467delC c.1265delC p.Pro422fs Pathogenic Knebelmann (1996)
107834390 Exon 20 Missense 1470G>A c.1268G>A p.Gly423Glu Pathogenic Knebelmann (1996)
107834398 Exon 20 Missense never used c.1276G>A p.Gly426Arg Pathogenic Nagel (2005)
107834402 Exon 20 Insertion 1482_1483insA c.1280_1281insA p.Gln427fs Pathogenic Renieri (1996)
107834408 Exon 20 Missense never used c.1286G>A p.Gly429Glu Pathogenic Tazon-Vega (2007)
107834410 Exon 20 Duplication 1486_1487insG c.1288_1289dupG. p.Ala430fs Pathogenic Wang (2005)
107834416 Exon 20 Missense never used c.1294G>A p.Gly432Arg Pathogenic Bekheirnia (2010)
107834453 Exon 20 Missense 1533T>G c.1331T>G p.Ile444Ser Benign Wang (2005)
107834789 Intron 20 Splice Site 1542-2A>G c.1340-2A>G p.? Pathogenic Lemmink (1997)
107834799 Exon 21 Deletion 1552_1554delAT c.1350_1351delAT p.Ile450fs Pathogenic Plant (1999)
107834816 Exon 21 Deletion 1567del9 c.1365del9 p.Pro456_Pro458del Pathogenic Renieri (1996)
107834817 Exon 21 Deletion 1568_1576del c.1366_1374del p.Pro456_Pro458del Moderate Martin (1998)
107834822 Exon 21 Deletion 1573-1581del c.1371_1379del p.Pro458_Gly460del Pathogenic Hertz (2001)
107834827 Exon 21 Deletion 1578delC c.1376delC p.Pro459fs Pathogenic Knebelmann (1996)
107834827 Exon 21 Insertion c.1578insC c.1376dup p.Gly460fs Pathogenic Bekheirnia (2010)
107834848 Exon 21 Missense 1599G>A c.1397G>A p.Gly466Glu Pathogenic Kawai (1996)
107834857 Exon 21 Missense never used c.1406G>A p.Gly469Glu Pathogenic Nagel (2005)
107834865 Exon 21 Missense 1616G>A c.1414G>A p.Gly472Arg Pathogenic Plant (1999)
107834874 Exon 21 Missense never used c.1423G>A p.Gly475Ser Pathogenic Bekheirnia (2010)
107834875 Intron 21 Splice Site 1625+1G>A c.1423+1G>A p.? Moderate Martin (1998)
107834930 Intron 21 Splice Site 1625+56_1625+57ins c.1423+56_1423+57ins p.? Pathogenic Wang (2005)
107838719 Intron 21 Splice Site never used c.1424-20 T>A p.? Moderate Pont-Kingdon (2009)
107838738 Intron 21 Splice Site 1626-1G>A c.1424-1G>A p.Gly475_Pro505del Pathogenic Wang (2005)
107838739 Exon 22-28; 38-51 Large Deletion never used c.1424-?_ 2244+?del;
3374-?_5058+?del
p.? Pathogenic Lemmink (1997)
107838757 Exon 22 Duplication c.1442dup p.Cys481fs Pathogenic Wang (2012)
107838787 Exon 22 Missense 1674G>A c.1472G>A p.Gly491Glu Pathogenic Knebelmann (1996)
107838796 Exon 22 Missense 1683G>A c.1481G>A p.Gly494Asp Pathogenic Renieri (1996)
107838798 Exon 22 Deletion 1685del36 c.1483del36 p.Gln495_Gly506del Pathogenic Renieri (1996)
107838804 Exon 22 Missense 1691G>T c.1489G>T p.Gly497Cys Moderate Knebelmann (1996)
107838813 Exon 22 Missense never used c.1498G>C p.Gly500Arg Moderate Tan (2010)
107838832 Intron 22 Splice Site never used c.1516+1G>A p.? Pathogenic Nagel (2005)
107838832 Intron 22 Splice Site never used c.1517-1G>T p.? Pathogenic Tang (2008)
107840253 Exon 23 Deletion 1744_1745delAG c.1542_1543delAG p.Lys514fs Moderate Plant (1999)
107840272 Exon 23 Missense 1763G>T c.1561G>T p.Gly521Cys Pathogenic Hertz (2001)
107840273 Exon 23 Missense 1764G>A c.1562G>A p.Gly521Asp Pathogenic King (2006)
107840277 Exon 23 Deletion 1768delA c.1566delA p.Ala522fs Pathogenic Renieri (1996)
107840282 Exon 23 Missense 1773G>A c.1571G>A p.Gly524Asp Moderate Knebelmann (1996)
107840290 Exon 23 Missense c.1579G>A p.Gly527Arg Pathogenic Wang (2012)
107840292 Exon 23 Deletion 1783_1798del16 c.1581_1596del16 p.Leu528Glufs Pathogenic Plant (1999)
107840299 Intron 23 Splice Site 1789+1delG c.1587+1delG p.? Pathogenic Knebelmann (1996)
107840299 Intron 23 Splice Site 1789+1G>A c.1587+1G>A p.? Pathogenic Martin (1998)
107840608 Exon 24 Missense never used c.1589G>A p.Gly530Asp Pathogenic Zhang (2011)
107840617 Exon 24 Missense never used c.1598G>A p.Gly533Glu Moderate Pont-Kingdon (2009)
107840626 Exon 24 Missense never used c.1607G>A p.Gly536Asp Pathogenic Tazon-Vega (2007)
107840652 Exon 24 Missense 1835G>C c.1633G>C p.Gly545Arg Pathogenic Plant (1999)
107840653 Exon 24 Missense 1836G>T c.1634G>T p.Gly545Val Pathogenic Plant (1999)
107840662 Exon 24 Missense never used c.1643G>A p.Gly548Asp Moderate Pont-Kingdon (2009)
107840672 Exon 24 Deletion 1855delC c.1653delC p.Leu550fs Pathogenic Wang (2005)
107840691 Exon 24 Missense 1874G>C c.1672G>C p.Gly558Arg Pathogenic Barker (2001)
107840700 Exon 24 Missense 1883G>A c.1681G>A p.Gly561Arg Pathogenic Plant (1999)
107840709 Exon 24 Missense never used c.1690G>T p.Gly564Cys Pathogenic Tan (2010)
107840719 Exon 24 Missense 1902G>C c.1700G>C p.Gly567Ala Pathogenic Renieri (1996)
107840737 Exon 24 Missense 1920G>A c.1718G>A p.Gly573Asp Pathogenic Hertz (2001)
107840745 Exon 24 Missense never used c.1726G>A p.Gly576Ser Moderate Bekheirnia (2010)
107840754 Exon 24 Missense 1937G>A c.1735G>A p.Gly579Arg Pathogenic Plant (1999)
107840755 Exon 24 Missense 1937G>A c.1736G>A p.Gly579Gln Pathogenic Inoue (1999)
107840757 Exon 24 Nonsense never used c.1738C>T p.Gln580X Pathogenic Bekheirnia (2010)
107840758 Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)
c.1739_1948+98del p.Gln580_Gly650del Pathogenic Plant (1999)
107840763 Exon 24 Missense never used c.1744G>A p.Gly582Arg Pathogenic Ma (2011)
107840776 Exon 24 Deletion c.1959_1972del14 c.1757_1770del p.Leu586fs Pathogenic Bekheirnia (2010)
107840799 Intron 24 Splice Site 1981+1G>T c.1779+1G>T p.? Pathogenic Renieri (1996)
107840799 Intron 24 Splice Site c.1779+1G>A p.? Pathogenic Wang (2012)
107840801 Intron 24 Splice Site c.1981+3G>C c.1779+3G>C p.? Pathogenic Bekheirnia (2010)
107841931 Intron 24 Splice Site 1982-1G>A c.1780-1G>A p.? Pathogenic King (2006)
107841932 Exon 25 Missense 1982G>A c.1780G>A p.Gly594Ser Moderate Hertz (2001)
107841935 Exon 25 Missense (or splice site) 1985G>A c.1783G>A p.Gly595Arg Moderate Hertz (2001)
107841960 Exon 25 Missense 2010G>T c.1808G>T p.Gly603Val Pathogenic Barker (2001)
107841977 Exon 25 Missense 2027G>C c.1825G>C p.Gly609Arg Pathogenic Knebelmann (1996)
107841978 Exon 25 Missense 2028G>T c.1826G>T p.Gly609Val Pathogenic Lemmink (1997)
107841987 Exon 25 Missense never used c.1835G>A p.Gly612Asp Pathogenic Ma (2011)
107841995 Exon 25 Missense c.1843G>C p.Gly615Arg Pathogenic Wang (2012)
107842008 Exon 25 Missense/Splice Site never used c.1856C>T p.Pro619Leu Moderate Tazon-Vega (2007)
107842013 Exon 25 Missense 2063G>T c.1861G>T p.Gly621Cys Pathogenic Knebelmann (1996)
107842023 Exon 25 Missense 2073G>A c.1871G>A p.Gly624Asp Moderate Slajpah (2007)
107842029 Exon 25 Missense 2079G>C c.1877G>C p.Gly626Ala Moderate Hertz (2001)
107842035 Exon 25 Missense never used c.1883C>T p.Proy628Leu Moderate Demosthenous (2011)
107842038 Exon 25 Missense 2088G>A c.1886G>A p.Gly629Asp Pathogenic Barker (2001)
107842047 Exon 25 Missense 2097G>A c.1895G>A p.Gly632Asp Pathogenic Knebelmann (1996)
107842049 Exon 25 Missense 2099G>A c.1897G>A p.Glu633Lys Moderate Inoue (1999)
107842056 Exon 25 Missense 2106G>A c.1904G>A p.Gly635Asp Pathogenic Martin (1998)
107842064 Exon 25 Missense 2114G>A c.1912G>A p.Gly638Ser Pathogenic Plant (1999)
107842065 Exon 25 Missense 2115G>C c.1913G>C p.Gly638Ala Pathogenic Plant (1999)
107842065 Exon 25 Missense 2115G>T c.1913G>T p.Gly638Val Pathogenic Plant (1999)
107842065 Exon 25 Missense c.1913G>A p.Gly638Asp Pathogenic Wang (2012)
107842100 Intron 25 Splice Site 2150+1G>A c.1948+1G>A p.? Pathogenic Wang (2005)
107842100 Exon 25 Missense c.1948G>A p.Gly650Ser Pathogenic Wang (2012)
107844621 Intron 25 Splice Site c.1949-2A>G p.Lys664_Gly669del Pathogenic Wang (2012)
107844623 Exon 26-29 Large Deletion never used c1949-?_2395+?del p.? Pathogenic Plant (1999)
107844623 Exon 26-37 Large Deletion never used c.1949-?_ 3373+?del p.? Pathogenic Hertz (2008)
107844631 Exon 26 Missense 2159G>A c.1957G>A p.Gly653Arg Pathogenic Plant (1999)
107844634 Exon 26 Deletion 2162delG c.1960delG p.Asp654fs Pathogenic Knebelmann (1996)
107844664 Exon 26 Deletion c.1990_2007del p.Lys664_Gly669del Pathogenic Wang (2012)
107844671 Exon 26 Missense 2194G>T c.1992G>T p.Lys664Asn Benign Slajpah (2007)
107844671 Exon 26 Missense 2199G>A c.1997G>A p.Gly666Asp Pathogenic Slajpah (2007)
107844679 Exon 26 Missense 2207G>C c.2005A>G p.Gly669Arg Pathogenic Wang (2005)
107844680 Exon 26 Missense 2208G>C c.2006G>C p.Gly669Ala Pathogenic Plant (1999)
107844688 Exon 26 Missense never used c.2014G>C p.Gly672Ser Pathogenic Ma (2011)
107844692 Exon 26 Deletion 2220delG c.2018delG p.Arg673fs Pathogenic Renieri (1996)
107844697 Exon 26 Missense never used c.2023G>A p.Gly675Ser Pathogenic Nagel (2005)
107844716 Intron 26 Splice Site 2243+1G>T c.2041+1G>T p.? Pathogenic Martin (1998)
107845097 Intron 26 Splice Site never used c.2042-18A>G p.? Pathogenic Savige (2008)
107845115 Exon 27 Missense 2244G>A c.2042G>A p.Gly681Asp Pathogenic Knebelmann (1996)
107845123 Exon 27 Nonsense 2252G>T c.2050G>T p.Gly684X Pathogenic Plant (1999)
107845124 Exon 27 Missense 2253G>T c.2051G>T p.Gly684Val Moderate Kawai (1996)
107845128 Exon 27 Silent 2257T>C c.2055T>C p.= Benign Barker (2001)
107845130 Exon 27 Deletion never used c.2057delC p.Pro686fs Pathogenic Tazon-Vega (2007)
107845133 Exon 27 Missense 2262G>A c.2060G>A p.Gly687Glu Pathogenic Plant (1999)
107845135 Exon 27 Duplication never used c.2062_2114dup p.Ile706Asnfs Pathogenic Tazon-Vega (2007)
107845168 Exon 27 Missense c.2095G>A p.Gly699Arg Pathogenic Wang (2012)
107845171 Exon 27 Nonsense never used c.2098G>T p.Glu700X Pathogenic Hertz (2008)
107845180 Exon 27 Missense 2309A>G c.2107A>G p.Ile703Val Benign Wang (2005)
107845219 Exon 27 Missense 2348G>C c.2146G>C p.Gly716Arg Pathogenic Kawai (1996)
107845222 Intron 27 Splice Site never used c.2146+3A>C p.? Pathogenic Nagel (2005)
107846191 Intron 27 Splice Site 2349-3C>G c.2147-3C>G p.? Pathogenic Martin (1998)
107846192 Intron 27 Splice Site never used c.2147-2A>G p.? Pathogenic Nagel (2005)
107846194 Exon 28 Deletion 2349delG c.2147delG p.Gly716 fs Pathogenic Martin (1998)
107846194 Exon 28 Deletion 2349delG c.2147delG p.Gly716fs Pathogenic Martin (1998)
107846194 Exon 28-32 Large Duplication never used c.2147-?_ 2767+?dup p.? Pathogenic Lemmink (1997)
107846202 Exon 28 Missense never used c.2155G>C p.Gly719Arg Moderate Pont-Kingdon (2009)
107846203 Exon 28 Missense c.2156G>T p.Gly719Val Pathogenic Wang (2012)
107846211 Exon 28 Missense never used c.2164G>C p.Gly722Arg Pathogenic Ma (2011)
107846212 Exon 28 Missense 2367G>A c.2165G>A p.Gly722Glu Pathogenic Barker (2001)
107846253 Exon 28 Deletion 2408_2428del21 c.2206_2226del21 p.Glu736_Pro742del Pathogenic King (2006)
107846262 Exon 28 Missense never used c.2215C>T p.Pro739Ser Pathogenic Cheong (2000)
107846262 Exon 28 Missense c.2215C>G p.Pro739Ala Uncertain Wang (2012)
107846266 Exon 28 Missense 2421G>A c.2219G>A p.Gly740Glu Pathogenic Kawai (1996)
107846275 Exon 28 Missense 2430G>A c.2228G>A p.Gly743Asp Pathogenic Plant (1999)
107846292 Intron 28 Splice Site c.2446+1G>T c.2244+1G>T p.? Pathogenic Bekheirnia (2010)
107846293 Intron 28 Splice Site 2446+2T>C c.2244+2T>G p.? Pathogenic King (2006)
107849971 Intron 28 Splice Site 2447-1G>A c.2245-1G>A p.? Pathogenic Martin (1998)
107850014 Exon 29 Missense never used c.2287G>A p.Gly763Arg Pathogenic Nagel (2005)
107850015 Exon 29 Missense never used c.2288G>A p.Gly763Glu Moderate Pont-Kingdon (2009)
107850024 Exon 29 Missense 2499G>A c.2297G>A p.Gly766Asp Moderate Hertz (2001)
107850032 Exon 29 Missense never used c.2305G>A p.Gly769Arg Pathogenic Bekheirnia (2010)
107850033 Exon 29 Missense (or splice site) c.2306G>T p.Gly769Val (or p.?) Pathogenic Wang (2012)
107850042 Exon 29 Missense 2517G>A c.2315G>A p.Gly772Asp Pathogenic Kawai (1996)
107850042 Exon 29 Missense never used c.2315G>C p.Gly772Ala Pathogenic Bekheirnia (2010)
107850045 Exon 29 Insertion 2524_2525insA c.2322_2123insA p.Gly775fs Pathogenic Hertz (2001)
107850059 Exon 29 Missense 2534G>A c.2332G>A p.Gly776Ser Moderate Plant (1999)
107850075 Exon 29 Deletion 2550delC c.2348delC p.Pro783fs Pathogenic Martin (1998)
107850076 Exon 29 Silent 2551G>A c.2349G>A p.= Benign Barker (2001)
107850087 Exon 29 Missense 2562G>T c.2360G>T p.Gly787Val Pathogenic King (2006)
107850113 Exon 29 Missense 2588G>A c.2386G>A p.Gly796Arg Pathogenic Plant (1999)
107850114 Exon 29 Missense (or splice site) c.2387G>T p.Gly796Val (or p.?) Pathogenic Wang (2012)
107850121 Exon 29 Splice Site c.2596A>G c. 2394A>G p.? Pathogenic Bekheirnia (2010)
107850124 Intron 29 Splice Site 2597+2delT c.2395+2delT p.? Pathogenic Renieri (1996)
107852872 Intron 29 Splice site c.2395+2750 A>C c.2395+2733 A>C p.? Pathogenic King (2002)
107858149 Exon 30 Deletion 2606-2623del c.2404-2421del18 p.Gly802_Pro807del Pathogenic Hertz (2001)
107858149 Exon 30 Missense 2606G>A c.2404G>A p.Gly802Arg Pathogenic Knebelmann (1996)
107858168 Exon 30 Missense 2625G>A c.2423G>A p.Gly808Glu Moderate Plant (1999)
107858176 Exon 30 Missense 2633G>A c.2431G>A p.Gly811Arg Pathogenic Slajpah (2007)
107858177 Exon 30 Missense 2634G>T c.2432G>T p.Gly811Val Pathogenic Knebelmann (1996)
107858179 Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
c.2434delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
p.Pro812fs Pathogenic Martin (1998)
107858197 Exon 30 Indel 2654_2656delATA/
2653_2654insT
c.2452_2454delATA/
2451_2452insT
p.Ile818fs Pathogenic Hertz (2001)
107858209 Exon 30 Deletion 2666_2674del9 c.2464_2472del9 p.Gly822_Pro824del Pathogenic Plant (1999)
107858209 Exon 30 Missense 2666G>C c.2464G>C p.Gly822Arg Moderate Cruz-Robles (1999)
107858210 Exon 30 Missense c.2465G>C p.Gly822Val Alport syndrome Jovanovic direct submission
107858218 Exon 30 Nonsense never used c.2473G>T p.Gly825X Pathogenic Tan (2010)
107858220 Exon 30 Deletion c.2677_2685del9 c.2475_2483
delACCACCAGG
p.Pro826_Gly828del Pathogenic Bekheirnia (2010)
107858221 Exon 30 Deletion never used c.2476delC p.Pro826fs Moderate Pont-Kingdon (2009)
107858228 Exon 30 Missense never used c.2483G>A p.Gly828Glu Pathogenic Ma (2011)
107858245 Exon 30 Missense never used c.2500G>C p.Gly834Arg Pathogenic Bekheirnia (2010)
107858254 Exon 30 Splice Site never used c.2509G>A p.? Pathogenic Tazon-Vega (2007)
107863456 Intron 30 Splice Site 2712-33A>G c.2510-33A>G p.? Moderate Barker (2001)
107863489 Exon 31 Deletion 2712delG c.2510delG p.Gly837fs Pathogenic King (2006)
107863489 Exon 31-36 Large Deletion never used c2510-?_3246+?del p.? Pathogenic King (2006)
107863489 Exon 31 Large Deletion c.2712-?_2789+?del c.2510-?_2677+?del p.? Pathogenic Bekheirnia (2010)
107863529 Exon 31 Deletion 2752_2775del c.2550_2573del p.Pro851_Pro858del Pathogenic Wang (2005)
107863533 Exon 31 Missense 2756G>A c.2554G>A p.Gly852Arg Pathogenic Kawai (1996)
107863534 Exon 31 Missense 2757G>A c.2555G>A p.Gly852Glu Pathogenic Plant (1999)
107863557 Exon 31 Missense never used c.2578G>C p.Gly860Arg Pathogenic Bekheirnia (2010)
107863566 Exon 31 Indel never used c.2587_2606delins75 p.? Pathogenic Ma (2011)
107863568 Exon 31 Deletion 2791del36 c.2589del36 p.Ser864_Gly875del Pathogenic Martin (2000)
107863574 Exon 31 Deletion 2797-2814del18 c.2595_2612del18 p.Gly866_Pro871del Pathogenic Gross (2002)
107863576 Exon 31 Missense 2799G>A c.2597G>A p.Gly866Glu Moderate Renieri (1996)
107863584 Exon 31 Missense 2807G>A c.2605G>A p.Gly869Arg Moderate Plant (1999)
107863593 Exon 31 Missense 2816G>C c.2614G>C p.Gly872Arg Pathogenic Plant (1999)
107863602 Exon 31 Missense never used c.2623G>C p.Gly875Arg Pathogenic Ma (2011)
107863603 Exon 31 Missense never used c.2624G>A p.Gly875Glu Pathogenic Tazon-Vega (2007)
107863604 Exon 31 Deletion 2827delA c.2625delA p.Gly875fs Pathogenic Plant (1999)
107863611 Exon 31 Nonsense c.2632G>T p.GLy878X Pathogenic Wang (2012)
107863612 Exon 31 Missense 2835G>T c.2633G>T p.Gly878Arg Pathogenic Plant (1999)
107863622 Exon 31 Deletion 2845delG c.2643delG p.Leu882fs Pathogenic Barker (2001)
107863638 Exon 31 Missense never used c.2659G>C p.Gly887Arg Pathogenic Bekheirnia (2010)
107863639 Exon 31 Missense never used c.2660G>T p.Gly887Val Pathogenic Nagel (2005)
107863656 Exon 31 Missense (or splice site) c.2677G>A p.Gly893Ser (or p.?) Pathogenic Wang (2012)
107865023 Intron 31 Splice site never used c.2678-10 T>G p.Gly893_Gly923 del Pathogenic King (2002)
107865033 Exon 32 Missense never used p.2678G>T p.Gly893Val Pathogenic Bekheirnia (2010)
107865033 Exon 32-36 Large Deletion never used c.2678-?_3246+?del p.? Pathogenic Bekheirnia (2010)
107865042 Exon 32 Deletion c.2888delG c.2686delG p.Gly896fs Pathogenic Bekheirnia (2010)
107865047 Exon 32 Missense 2894A>G c.2692A>G p.Met898Val Moderate Barker (2001)
107865051 Exon 32 Deletion never used c.2696_2705del p.Gly899fs Pathogenic Zhang (2011)
107865051 Exon 32 Missense never used c.2696G>T p.Gly899Val Pathogenic Ma (2011)
107865060 Exon 32 Missense never used c.2705G>T p.Gly902Val Pathogenic Cheong (2000)
107865060 Exon 32 Missense c.2705G>A p.Gly902Glu Pathogenic Wang (2012)
107865063 Exon 32 Duplication never used c.2708dup p.Pro904fs Pathogenic Tazon-Vega (2007)
107865069 Exon 32 Missense c.2714G>A p.Gly905Asp Pathogenic Wang (2012)
107865077 Exon 32 Missense never used c.2722G>A p.Gly908Arg Pathogenic Tan (2010)
107865086 Exon 32 Missense never used c.2731G>A p.Gly911Arg Pathogenic Bekheirnia (2010)
107865087 Exon 32 Missense never used c.2732G>A p.Gly911Glu Pathogenic Cheong (2000)
107865101 Exon 32 Indel 2948del13insAT c.2746del13insAT p.Ser916fs Pathogenic Plant (1999)
107865101 Exon 32 Missense 2948A>G c.2746A>G p.Ser916Gly Pathogenic Barker (2001)
107865124 Intron 32 Deletion never used c.2767+2delT p.? Pathogenic Tazon-Vega (2007)
107865895 Intron 32 Splice Site 2970-11A>G c.2768-11A>G p.? Benign Barker (2001)
107865920 Exon 33 Nonsense never used c.2782C>T p.Gln928X Moderate Bekheirnia (2010)
107865926 Exon 33 Nonsense 2990C>T c.2788C>T p.Gln930X Pathogenic Wang (2005)
107865940 Exon 33 Insertion 3004_3005insT c.2802_2803insT p.Gly935fs Pathogenic Hertz (2001)
107865942 Exon 33 Missense never used c.2804G>A p.Gly935Asp Pathogenic Nagel (2005)
107865959 Exon 33 Missense 3023G>T c.2821G>T p.Gly941Cys Moderate Hertz (2001)
107865961 Exon 33 Deletion 3025delTAG c.2823_2825delTAG p.Ser942del Pathogenic Renieri (1996)
107865978 Exon 33 Missense 3042 G>A c.2840G>A p.Gly947Asp Pathogenic Inoue (1999)
107865984 Exon 33 Deletion 3048delC c.2846delC p.Pro949fs Pathogenic King (2006)
107865996 Exon 33 Missense 3060G>T c.2858G>T p.Gly953Val Pathogenic Knebelmann (1996)
107866056 Intron 33 Splice Site 3119+1G>C c.2917+1G>C p.? Pathogenic Knebelmann (1996)
107866056 Intron 33 Splice Site c.3119+1G>T c.2917+1G>T p.? Pathogenic Bekheirnia (2010)
107867465 Intron 33 Splice Site 3120-1G>T c.2918-1G>T p.? Moderate Knebelmann (1996)
107867466 Exon 34-51 Large Deletion never used c.2918-?_5058+?del p.? Pathogenic Lemmink (1997)
107867477 Exon 34 Deletion 3131delAG c.2929delAG p.Val977fs Pathogenic Plant (1999)
107867488 Exon 34 Deletion 3142delA c.2940delA p.Pro980fs Pathogenic Renieri (1996)
107867491 Exon 34 Deletion 3145delA c.2943delA p.Lys981fs Pathogenic Peissel (1994)
107867495 Exon 34 Deletion never used c.2947del p.Tyr983fs Pathogenic Demosthenous (2011)
107867507 Exon 34 Deletion 3161_3178del18 c.2959_2976del18 p.Pro987-Gln992del Pathogenic Plant (1999)
107867513 Exon 34 Deletion 3167delG c.2965delG p.Asp989fs Pathogenic Lemmink (1997)
107867547 Exon 34 Missense never used c.2999G>T p.Gly1000Val Benign Kaneko (2010)
107867565 Intron 34 Splice Site 3218+1G>T c.3016+1G>T p.? Pathogenic Barker (2001)
107868930 Intron 34 Splice Site never used c.3017-4A>G p.? Pathogenic Ma (2011)
107868934 Intron 34 Splice Site 3219-1G>A c.3017-1G>A p.? Pathogenic Barker (2001)
107868935 Exon 35 Missense 3219G>T c.3017G>T p.Gly1006Val Moderate Barker (2001)
107868935 Exon 35-36 Large Deletion never used c.3017-?_3246+?del p.? Pathogenic King (2006)
107868962 Exon 35 Missense 3246G>T c.3044G>T p.Gly1015Val Pathogenic Knebelmann (1996)
107868964 Exon 35 Nonsense 3248C>T c.3046C>T p.Gln1016X Pathogenic Knebelmann (1996)
107868964 Exon 35 Deletion never used c.3046delC p.Gln1016fs Pathogenic Ma (2011)
107868975 Exon 35 Deletion 3259delT c.3057delT p.Leu1019fs Pathogenic Knebelmann (1996)
107868998 Exon 35 Missense 3282G>T c.3080G>T p.Gly1027Val Pathogenic Wang (2005)
107869006 Exon 35 Missense 3290G>A c.3088G>A p.Gly1030Ser Moderate Martin (1998)
107869028 Intron 35 Splice Site never used c.3106+4delA;
3106+6_17del
TGATGAAAATCT
p.? Pathogenic Nagel (2005)
107869438 Intron 35 Splice Site 3309-2A>G c.3107-2A>G p.? Pathogenic Hertz (2001)
107869440 Exon 36 Missense 3309G>T c.3107G>T p.Gly1036Val Pathogenic Knebelmann (1996)
107869448 Exon 36 Missense 3317G>A c.3115G>A p.Gly1039Ser Pathogenic Knebelmann (1996)
107869467 Exon 36 Missense 3336G>A c.3134G>A p.Gly1045Glu Pathogenic Martin (2000)
107869500 Exon 36 Deletion c.3369delC c.3167del C p.Pro1056fs Pathogenic Bekheirnia (2010)
107869502 Exon 36 Nonsense 3371G>T c.3169G>T p.Gly1057X Pathogenic Knebelmann (1996)
107869511 Exon 36 Nonsense 3380G>T c.3178G>T p.Gly1060X Pathogenic Martin (1998)
107869514 Exon 36 Nonsense 3383C>T c.3181C>T p.Gln1061X Pathogenic Plant (1999)
107869521 Exon 36 Missense never used c.3188G>T p.Gly1063Val Pathogenic Nagel (2005)
107869529 Exon 36 Missense 3398G>C c.3196G>C p.Gly1066Arg Pathogenic Knebelmann (1996)
107869529 Exon 36 Missense 3398G>A c.3196G>A p.Gly1066Ser Pathogenic Martin (1998)
107869530 Exon 36 Missense 3399G>C c.3197G>C p.Gly1066Ala Pathogenic Barker (2001)
107869539 Exon 36 Missense never used c.3206G>T p.Gly1069Val Pathogenic Bekheirnia (2010)
107869545 Exon 36 Nonsense 3414C>G c.3212C>G p.Ser1071X Pathogenic Hertz (2001)
107898561 Exon 36 Missense never used c.3247G>A p.Gly1083Ser Pathogenic Nagel (2005)
107898561 Exon 37 Deletion never used c.3247-?_ 3373+?del p.? Pathogenic Tazon-Vega (2007)
107898561 Exon 37-45 Large Deletion never used c3247-?_4198+?del p.? Pathogenic Plant (1999)
107898561 Exon 37-51 Large Deletion never used c.3247-?_ 5058+?del p.? Pathogenic Nozu (2008)
107898561 Exon 37 Large Deletion never used c.3247-?_3373+?del p.? Pathogenic Bekheirnia (2010)
107898569 Exon 37 Silent 3457G>A c.3255T>A p.= Benign Inoue (1999)
107898570 Exon 37 Missense never used c.3256G>C p.Gly1086Arg Moderate Tazon-Vega (2007)
107898571 Exon 37 Missense 3459G>A c.3257G>A p.Gly1086Asp Pathogenic Martin (2000)
107898603 Exon 37 Nonsense 3491A>T c.3289A>T p.Lys1097X Pathogenic Martin (1998)
107898625 Exon 37 Missense 3513G>T c.3311G>T p.Gly1104Val Pathogenic Kawai (1996)
107898633 Exon 37 Missense 3521G>A c.3319G>A p.Gly1107Arg Pathogenic Plant (1999)
107898640 Exon 37 Insertion c.3528insT c.3326_7insT p.Gly1110fs Pathogenic Bekheirnia (2010)
107898645 Exon 37 Deletion 3533delA c.3331delA p.Thr1111fs Pathogenic Renieri (1996)
107898651 Exon 37 Insertion 3539_3540insCCTG c.3337_3338insCCTG p.Gly1113fs Pathogenic Renieri (1996)
107898661 Exon 37 Missense never used c.3347G>T p.Gly1116Val Moderate Bekheirnia (2010)
107898688 Intron 37 Splice Site c.3575+1G>A c.3373+1G>A p.? Pathogenic Bekheirnia (2010)
107908726 Intron 37 Splice Site 3576-11C>A c.3374-11C>A p.? Pathogenic Martin (2000)
107908737 Exon 38-41 Large Deletion never used c.3374-?_3790+?del p.? Pathogenic Plant (1999)
107908737 Exon 38-46 Insertion never used not available p.? Pathogenic Lemmink (1997)
107908737 Exon 38-51 Large Deletion never used c.3374-?_5058+?del p.? Pathogenic Lemmink (1997)
107908737 Exon 38-51 Large Duplication never used c.3374-?_ 5058+?dup p.? Moderate Lemmink (1997)
107908766 Exon 38 Indel c.3605del16ins3 c.3403_3418delins3 p.Ile1135fs Pathogenic Bekheirnia (2010)
107908776 Exon 38 Deletion 3615delC c.3413delC p.Pro1138fs Pathogenic Slajpah (2007)
107908790 Exon 38 Missense 3629G>A c.3427G>A p.Gly1143Ser Moderate Renieri (1996)
107908791 Exon 38 Missense 3630G>A c.3428G>A p.Gly1143Asp Pathogenic Hertz (2001)
107908818 Intron 38 Splice Site 3656+1G>T c.3454+1G>T p.? Pathogenic Hertz (2001)
107909717 Intron 38 Splice Site 3657-9A>G c.3455-9A>G p.? Moderate Martin (2000)
107909743 Exon 39 Missense 3674 1G>T c.3472 1G>T p.Gly1158Arg Pathogenic Inoue (1999)
107909745 Exon 39 Deletion 3676delG c.3474delG p.Gly1158fs Pathogenic Hertz (2001)
107909752 Exon 39 Missense 3683G>A c.3481G>A p.Gly1161Arg Pathogenic Plant (1999)
107909770 Exon 39 Missense 3701G>A c.3499G>A p.Gly1167Ser Moderate Martin (2000)
107909779 Exon 39 Missense 3710G>A c.3508G>A p.Gly1170Ser Moderate Inoue (1999)
107909780 Exon 39 Deletion 3711delG c.3509delG p.Gly1170fs Pathogenic Renieri (1996)
107909784 Exon 39 Silent 3715A>G c.3513A>G p.= Benign Barker (2001)
107909797 Exon 39 Missense c.3526G>A p.Gly1176Arg Pathogenic Wang (2012)
107909798 Exon 39 Deletion 3729delG c.3527delG p.Gly1176fs Pathogenic Martin (1998)
107909806 Exon 39 Missense never used c.3535G>A p.Gly1179Arg Pathogenic Nagel (2005)
107909809 Exon 39 Nonsense 3740C>T c.3538C>T p.Gln1180X Pathogenic Knebelmann (1996)
107909814 Exon 39 Deletion 3745_3751
delGGGTGAA
c.3543_3549
delGGGTGAA
p.Lys1181fs Pathogenic Renieri (1996)
107909815 Exon 39 Missense 3746G>C c.3544G>C p.Gly1182Arg Pathogenic Kawai (1996)
107910354 Intron 39 Splice Site 3756-9C>G c.3554-9C>G p.? Pathogenic Martin (1998)
107910360 Intron 39 Splice Site 3756-3C>G c.3554-3C>G p.? Moderate Martin (1998)
107910362 Intron 39 Splice Site 3756-1G>A c.3554-1G>A p.? Pathogenic Knebelmann (1996)
107910363 Exon 40 Deletion never used c.3554-?_3604+?del p.? Pathogenic Lemmink (1997)
107910394 Exon 40 Silent 3784G>A c.3582C>T p.= Benign Inoue (1999)
107910395 Exon 40 Missense 3788G>A c.3586G>A p.Gly1196Arg Pathogenic Martin (1998)
107910396 Exon 40 Missense never used c.3587G>A p.Gly1196Glu Pathogenic Bekheirnia (2010)
107910416 Intron 40 Splice Site never used c.3604+3T>A p.? Pathogenic Nagel (2005)
107911546 Intron 40 Splice Site 3807-3A>T c.3605-3A>T p.? Pathogenic Knebelmann (1996)
107911547 Intron 40 Splice Site 3807-2A>G c.3605-2A>G p.? Pathogenic Gross (2002)
107911548 Intron 40 Splice Site 3807-1G>A c.3605-1G>A p.? Pathogenic Knebelmann (1996)
107911549 Exon 41-51 Large Deletion never used c.3605-?_5058+?del p.? Pathogenic Plant (1999)
107911557 Exon 41 Missense 3815G>T c.3613G>T p.Gly1205Cys Pathogenic Knebelmann (1996)
107911557 Exon 41 Missense never used c.3613G>A p.Gly1205Ser Pathogenic Bekheirnia (2010)
107911562 Exon 41 Deletion 3820_3824delTGGA c.3618_3622delTGGA p.Asp1206fs Pathogenic Renieri (1996)
107911575 Exon 41 Missense 3833G>C c.3631G>C p.Gly1211Arg Pathogenic Plant (1999)
107911576 Exon 41 Missense 3834G>A c.3632G>A p.Gly1211Glu Pathogenic Knebelmann (1996)
107911585 Exon 41 Missense never used c.3641G>A p.Gly1214Glu Pathogenic Nagel (2005)
107911591 Exon 41 Deletion 3849delC c.3647delC p.Pro1216fs Pathogenic Knebelmann (1996)
107911594 Exon 41 Missense c.3650G>A p.Gly1217Asp Pathogenic Wang (2012)
107911601 Exon 41 Deletion 3859_3930del c.3657_3728del p.Gly1220_Pro1243del Pathogenic Hertz (2001)
107911603 Exon 41 Missense 3861G>A c.3659G>A p.Gly1220Asp Pathogenic Plant (1999)
107911612 Exon 41 Missense never used c.3668G>T p.Gly1223Val Pathogenic Nagel (2005)
107911612 Exon 41 Missense c.3668G>A p.Gly1223Asp Pathogenic Wang (2012)
107911629 Exon 41 Missense c.3685G>A p.Gly1229Ser Pathogenic Wang (2012)
107911630 Exon 41 Missense never used c.3686G>A p.Gly1229Asp Moderate Cheong (2000)
107911636 Exon 41 Deletion 3894delC c.3692del p.Pro1231fs Pathogenic Knebelmann (1996)
107911636 Exon 41 Insertion c.3894insC c.3692dup p.Gly1232fs Pathogenic Bekheirnia (2010)
107911638 Exon 41 Missense 3896G>A c.3694G>A p.Gly1232Ser Pathogenic Wang (2005)
107911644 Exon 41 Nonsense never used c.3700C>T p.Gln1234X Moderate Pont-Kingdon (2009)
107911650 Exon 41 Indel c.3908_3924delinsT c.3706_3722delinsT p.Pro236fs Pathogenic Bekheirnia (2010)
107911654 Exon 41 Deletion 3912del52 c.3710_3761del52 p.Pro1237fs Pathogenic Kawai (1996)
107911654 Exon 41 Insertion 3912_3913insCC c.3710_3711insCC p.Pro1237fs Pathogenic Plant (1999)
107911665 Exon 41 Missense 3923 G>T c.3721G>T p.Gly1241Cys Pathogenic Lemmink (1997)
107911666 Exon 41 Missense never used c.3722G>T p.Gly1241Val Pathogenic Bekheirnia (2010)
107911675 Exon 41 Missense 3933G>A c.3731G>A p.Gly1244Asp Moderate Barker (2001)
107911690 Exon 41 Deletion c.3746del p.GLy1249fs Pathogenic Wang (2012)
107911698 Exon 41 Missense 3956G>A c.3754G>A p.Gly1252Ser Moderate Knebelmann (1996)
107911701 Exon 41 Insertion 3959_3960insGGCA c.3757_3758insGGCA p.Asn1253fs Pathogenic Kawai (1996)
107911707 Exon 41 Missense 3965G>A c.3763G>A p.Gly1255Arg Pathogenic Hertz (2001)
107911726 Exon 41 Missense 3984G>A c.3782G>A p.Gly1261Glu Pathogenic Martin (1998)
107911735 Intron 41 Splice Site 3992+1delG c.3790+1delG p.? Pathogenic Knebelmann (1996)
107920730 Exon 42-47 Large Deletion never used c.3791-?_4510+?del p.? Pathogenic Lemmink (1997)
107920747 Exon 42 Missense 4010G>A c.3808G>A p.Gly1270Ser Moderate Hertz (2001)
107920753 Exon 42 Deletion 4016delC c.3814delC p.Pro1272fs Pathogenic Renieri (1996)
107920776 Exon 42 Indel never used c.3837_3845del;
3853_3854insA
p.Gly1279fs Pathogenic Zhang (2011)
107920808 Exon 42 Insertion never used c.3869_3870 ins AACC p.? Pathogenic Tazon-Vega (2007)
107920859 Exon 42 Deletion 4122delT c.3920delT p.Leu1307fs Pathogenic Knebelmann (1996)
107920863 Exon 42 Missense never used c.3924G>C p.Gln1308His Pathogenic Bekheirnia (2010)
107923864 Intron 42 Splice Site 4126+1G>C c.39254+1G>C p.? Pathogenic Cruz-Robles (1999)
107923907 Intron 42 Splice Site never used c.3925-2A>G p.? Pathogenic Nagel (2005)
107923908 Intron 42 Splice Site 4127-1G>A c.3925-1G>A p.? Pathogenic Plant (1999)
107923909 Exon 43-44 Large Deletion never used c.3925-?_4069+?del p.? Pathogenic Barker (2001)
107923942 Exon 43 Nonsense never used c.3958A>T p.Lys1320X Pathogenic Minucci (2007)
107923976 Exon 43 Deletion 4194delT c.3992delT p.Phe1331fs Pathogenic Renieri (1996)
107923981 Exon 43 Missense 4199G>A c.3997G>A p.Gly1333Ser Pathogenic Plant (1999)
107924113 Intron 43 Splice Site never used c.3998-2A>T p.? Pathogenic Krol (2008)
107924113 Intron 43 Splice Site 4200-2A>G c.3998-2A>G p.? Pathogenic Renieri (1996)
107924123 Exon 44 Nonsense never used c.4006G>T p.Gly1336X Pathogenic Tan (2010)
107924141 Exon 44 Missense c.4024G>A p.Gly1342Arg Pathogenic Wang (2012)
107924160 Exon 44 Deletion 4245del6, 4241G>A c.4043del6,4039G>A p.Pro1350_Gly1351del, p.Gly1348Glu Pathogenic Renieri (1996)
107924186 Exon 44 Missense 4271G>A c.4069G>A p.Gly1357Ser Pathogenic Martin (1998)
107924187 Intron 44 Splice Site 4271+1G>A c.4069+1G>A p.? Pathogenic Plant (1999)
107924990 Exon 45-51 Large Deletion never used c.4070-?_5058+?del p.? Pathogenic Lemmink (1997)
107924991 Exon 45 Deletion 4273delT c.4071delT p.Pro1358fs Pathogenic Knebelmann (1996)
107925022 Exon 45 Deletion 4304_4305delAG c.4102_4103delAG p.Ser1368fs Pathogenic Plant (1999)
107925056 Exon 45 Missense 4338G>T c.4136G>T p.Gly1379Val Pathogenic Renieri (1996)
107925067 Exon 45 Nonsense never used c.4147C>T p.Gln1383X Pathogenic Bekheirnia (2010)
107925081 Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.Gly1388fs Pathogenic Renieri (1996)
107925091 Exon 45 Nonsense never used c.4171G>T p.Gly1391X Pathogenic Bekheirnia (2010)
107925094 Exon 45 Deletion never used c.4175delC p.Pro1392fs Moderate Pont-Kingdon (2009)
107925097 Exon 45 Nonsense 4379 C>T c.4177 C>T p.Gln1393X Pathogenic Inoue (1999)
107925097 Exon 45 Deletion c.4379delC c.4177delC p.Gln1393fs Moderate Bekheirnia (2010)
107925104 Exon 45 Deletion c.4184del p.Pro1395fs Pathogenic Wang (2012)
107925116 Exon 45 Duplication 4398_4399insC c.4196dup p.Gly1400fs Pathogenic Gross (2002)
107925118 Exon 45 Splice site c.4198_4198+1del p.? Pathogenic Wang (2012)
107929260 Intron 45 Splice Site 4401-1G>A c.4199-1G>A p.? Pathogenic Gross (2002)
107929261 Exon 46-47 Indel ins10-15kb; del25kb ins10-15kb (intron 46);
del25kb
p.? Pathogenic Lemmink (1997)
107929261 Exon 46-51 Large Deletion never used c.4199-?_5058+?del p.? Pathogenic King (2006)
107929276 Exon 46 Duplication 4416insC c.4214dup p.Gly1406fs Pathogenic Ermisch (2000)
107929290 Exon 46 Missense 4430C>T c.4228C>T p.Arg1410Cys Pathogenic Renieri (1996)
107929297 Exon 46 Deletion never used c.4235delG p.Gly1412fs Pathogenic Ma (2011)
107929301 Exon 46 Silent 4441C>T c.4239C>T p.= Benign Kawai (1996)
107929315 Exon 46 Indel 4455_4464del
dup4465_4482
c.4253_4262del;
4263_4280dup
p.Gly1420fs Pathogenic Hertz (2001)
107929323 Exon 46 Missense 4463G>T c.4261G>T p.Gly1421Trp Moderate Renieri (1996)
107929333 Exon 46 Missense never used c.4271G>A p.Gly1424Glu Pathogenic Zhang (2011)
107929337 Exon 46 Silent 4477C>T c.4275C>T p.= Benign Barker (2001)
107929341 Exon 46 Missense never used c.4279G>T p.Gly1427Cys Pathogenic Nagel (2005)
107929342 Exon 46 Missense never used c.4280G>C p.Gly1427Ala Pathogenic Ma (2011)
107929342 Exon 46 Missense 4482G>T c.4280G>T p.Gly1427Val Moderate Plant (1999)
107929360 Intron 46 Splice Site 4499+1G>A c.4297+1G>A p.? Pathogenic Wang (2005)
107930711 Intron 46 Splice Site 4500-1G>C c.4298-1G>C p.? Pathogenic Barker (2001)
107930712 Exon 47 Missense never used c.4298G>T p.Gly1433Val Pathogenic Ma (2011)
107930712 Exon 47-51 Large Deletion never used c.4298-?_5058+?del p.? Pathogenic Nagel (2005)
107930729 Exon 47 Duplication 4517_4552dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
c.4315_4350dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
p.Gly1439_Pro1450dup Pathogenic Renieri (1996)
107930738 Exon 47 Missense 4526G>C c.4324G>C p.Gly1442Arg Pathogenic King (2006)
107930739 Exon 47 Missense never used c.4325G>C p.Gly1442Ala Moderate Hopker (2009)
107930739 Exon 47 Missense 4527G>A c.4325G>A p.Gly1442Asp Pathogenic Plant (1999)
107930739 Exon 47 Deletion never used c.4325_4351 del p. Asp1444_Pro1452del Pathogenic Tazon-Vega (2007)
107930756 Exon 47 Missense 4544G>A c.4342G>A p.Gly1448Ser Pathogenic Wang (2005)
107930758 Exon 47 Insertion 4546_4547insT c.4344_4345insT p.Pro1449fs Pathogenic Renieri (1996)
107930763 Exon 47 Deletion never used c.4349delC p.Pro1450fs Pathogenic Nagel (2005)
107930765 Exon 47 Missense 4553G>A c.4351G>A p.Gly1451Ser Pathogenic Lemmink (1997)
107930815 Exon 47 Duplication c.4401_4402dup p.Ser1468fs Pathogenic Wang (2012)
107930841 Exon 47 Missense c.4427G>T p.Cys1476Phe Pathogenic Wang (2012)
107930850 Exon 47 Deletion 4638_4639delGA c.4436_4437delGA p.Gly1479fs Pathogenic Hertz (2001)
107930851 Exon 47 Deletion 4639delA c.4437delA p.Gly1479fs Pathogenic Plant (1999)
107930853 Exon 47 Missense never used c.4439C>G p.Thr1480Arg Moderate Ma (2011)
107930871 Exon 47 Missense 4659G>C c.4457G>C p.Gly1486Ala Moderate Plant (1999)
107930877 Exon 47 Missense 4665C>T c.4463C>T p.Ser1488Phe Pathogenic Knebelmann (1996)
107930905 Exon 47 Deletion 4693delAG c.4491_4492del AG p.Arg1497Serfs Pathogenic Inoue (1999)
107930907 Exon 47 Missense 4686C>A c.4493C>A p.Ala1498Asp Moderate Lemmink (1997)
107930915 Exon 47 Nonsense never used c.4501C>T p.Gln1501X Pathogenic Bekheirnia (2010)
107930924 Intron 47 Indel ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
p.? Pathogenic Plant (1999)
107930925 Intron 47 Splice Site 4712+1G>C c.4510+1G>C p.? Pathogenic Kawai (1996)
107935633 Intron 47 Splice Site c.4511-345A>G p.Gly1504fs Pathogenic Wang (2012)
107935980 Exon 48 Deletion c.4715delA c.4513delA p.Thr1505fs Pathogenic Bekheirnia (2010)
107935981 Exon 48 Indel never used c.4514_4529
indelTTTCATCT
p.Thr1505fs Pathogenic Nagel (2005)
107935999 Exon 48 Missense never used c.4532G>A p. Arg1511His Uncertain Cheong (2000)
107936016 Exon 48 Missense 4751C>A c.4549C>A p.Pro1517Thr Pathogenic Renieri (1996)
107936030 Exon 48 Nonsense 4765C>A c.4563C>A p.Cys1521X Pathogenic Hertz (2001)
107936080 Exon 48 Missense 4815G>C c.4613G>C p.Trp1538Ser Moderate Lemmink (1997)
107936081 Exon 48 Nonsense 4816G>A c.4614G>A p.Trp1538X Pathogenic Knebelmann (1996)
107936142 Exon 48 Missense 4877C>G c.4675C>G p.Pro1559Ala Benign Plant (1999)
107936152 Exon 48 Deletion c.4887_4890del4 c.4685del4 p.Ser1562fs Pathogenic Bekheirnia (2010)
107936154 Exon 48 Nonsense 4889C>T c.4687C>T p.Arg1563X Pathogenic Knebelmann (1996)
107936155 Exon 48 Missense 4890G>A c.4688G>A p.Arg1563Gln Moderate Gross (2002)
107936159 Intron 48 Splice Site c.4688+4A>T p.Gly1504fs Pathogenic Wang (2012)
107938007 Intron 48 Indel c.4891-30del22insCA c.4689-30_4689-9
delinsCA
p.? Pathogenic Bekheirnia (2010)
107938034 Exon 49 Splice Site 4891-3del32 c.4689-3del32 p.? Pathogenic Kawai (1996)
107938037 Exon 49-51 Large Deletion never used c.4689-?_5058+?del p.? Pathogenic Lemmink (1997)
107938038 Exon 49 Missense never used c.4690T>C p.Cys1564Arg Moderate Pont-Kingdon (2009)
107938039 Exon 49 Missense 4893G>C c.4691G>C p.Cys1564Ser Moderate Zhou (1991)
107938043 Exon 49 Deletion c.4695del p.Val1566fs Pathogenic Wang (2012)
107938047 Exon 49 Missense 4901T>C c.4699T>C p.Cys1567Arg Pathogenic Knebelmann (1996)
107938048 Exon 49 Missense c.4700G>C p.CYs1567Ser Pathogenic Wang (2012)
107938050 Exon 49 Missense never used c.4702G>A p.Glu1568Gln Pathogenic Tan (2010)
107938098 Exon 49 Deletion 4952_4958del7 c.4750_4756del7 p.Pro1584fs Moderate Plant (1999)
107938098 Exon 49 Missense never used c.4751C>T p.Pro1584Leu Moderate Pont-Kingdon (2009)
107938104 Exon 49 Missense 4958T>C c.4756T>C p.Cys1586Arg Pathogenic Hertz (2001)
107938105 Exon 49 Missense 4959G>T c.4757G>T p.Cys1586Phe Pathogenic Wang (2005)
107938114 Exon 49 Missense 4968G>T c.4766G>T p.Gly1589Val Pathogenic King (2006)
107938116 Exon 49 Missense 4970T>G c.4768T>G p.Trp1590Gly Pathogenic King (2006)
107938128 Exon 49 Deletion never used c.4780_4781delTG p.Trp1594fs Pathogenic Ma (2011)
107938130 Exon 49 Nonsense c.4782G>A p.Trp1594X Pathogenic Wang (2012)
107938135 Exon 49 Missense 4989G>A c.4787G>A p.Gly1596Asp Pathogenic Renieri (1996)
107938138 Exon 49 Missense 4992A>G c.4790A>G p.Tyr1597Cys Moderate Gross (2002)
107938139 Exon 49 Nonsense 4993T>A c.4791T>A p.Tyr1597X Pathogenic Martin (1998)
107938151 Exon 49 Missense 5005G>A c.4803G>A p.Met1601Ile Pathogenic Plant (1999)
107938152 Intron 49 Splice Site 5005+1ins10 c.4803+1ins10 p.? Pathogenic Lemmink (1997)
107938152 Intron 49 Splice Site 5005+1G>A c.4803+1G>A p.? Moderate Knebelmann (1996)
107938273 Intron 49 Splice Site 5005+121T>C c.4803+121T>C p.? Pathogenic Shimizu (2006)
107938346 Intron 49 Splice Site 5006-151_150insT c.4804-151_150insT p.? Pathogenic Shimizu (2006)
107938525 Exon 50 Deletion 5034delG c.4832delG p.Gly1611fs Pathogenic Renieri (1996)
107938555 Exon 50 Missense c.4862T>C p.Leu1621Ser Pathogenic Wang (2012)
107938587 Exon 50 Missense never used c.4894T>G p.Cys1632Gly Pathogenic Bekheirnia (2010)
107938606 Exon 50 Missense 5115G>A c.4913G>A p.Cys1638Tyr Moderate Wilson (2007)
107938635 Exon 50 Duplication never used c.4942dup p.Trp1648fs Pathogenic Ma (2011)
107938639 Exon 50 Missense 5148T>G c.4946T>G p.Leu1649Arg Moderate Barker (1996)
107938661 Exon 50 Deletion 5170 delC c.4968delC p.Asp1656fs Pathogenic Inoue (1999)
107938669 Exon 50 Missense 5178G>A c.4976G>A p.Ser1659Asn Pathogenic Knebelmann (1996)
107939525 Intron 50 Splice Site c.5179-2A>G c.4977-2A>G p.? Pathogenic Bekheirnia (2010)
107939544 Exon 51 Deletion 5196_5203del8 c.4994_5001del8 p.Thr1665fs Pathogenic Plant (1999)
107939570 Exon 51 Nonsense never used c.5020C>T p.Arg1674X Pathogenic Bekheirnia (2010)
107939579 Exon 51 Nonsense 5231C>T c.5029C>T p.Arg1677X Pathogenic Martin (1998)
107939580 Exon 51 Missense 5232G>A c.5030G>A p.Arg1677Gln Moderate Barker (1997)
107939580 Exon 51 Missense 5232G>C c.5030G>C p.Arg1677Pro Moderate Barker (2001)
107939580 Exon 51 Missense never used c.5030G>T p.Arg1677Leu Pathogenic Ma (2011)
107939582 Exon 51 Missense 5234T>C c.5032T>C p.Cys1678Arg Pathogenic Gross (2002)
107939584 Exon 51 Deletion 5236delT c.5034delT p.Cys1678fs Pathogenic Martin (2000)
107939584 Exon 51 Missense 5236T>G c.5034T>G p.Cys1678Trp Pathogenic Inoue (1999)
107939586 Exon 51 Missense c.5036A>C p.Gln1679Pro Pathogenic Wang (2012)
107939592 Exon 51 Missense 5244G>T c.5042G>T p.Cys1681Phe Pathogenic Wang (2005)
107939656 3'UTR Insertion c.5309_5310insA c.5058+48insAT
(*48_49insAT)
p.? Uncertain Bekheirnia (2010)
3'UTR Insertion c.5309_5310insA c.5058+48*dup p.? Uncertain Affected individual. Variant of uncertain significance http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 01 Missense never used c.2T>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033287
Exon 01 Nonsense 215G>T c.13G>T p.Gly5X Pathogenic Alport Syndrome Absence of alpha 5 chain http://www.ncbi.nlm.nih.gov/pubmed/10563487
Exon 01 Insertion never used c.38_41dup p.Leu14fs Pathogenic Alport syndrome (detectable by MLPA) http://www.ncbi.nlm.nih.gov/pubmed/18616531
Exon 01 Deletion never used c.49_50delCT p.Leu17fs Pathogenic Reported in a female with asymptomatic hematuria and proteinuria. http://www.ncbi.nlm.nih.gov/pubmed/19693995
Exon 01 Deletion c.267_279del13 c.65_77del p.Gln22fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 01-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene
Pathogenic Alport syndrome. 3.3 MB deletion including COL4A5 gene. Found by array CGH in patient with unclear syndromic nephropathy. Accompanied by mental retardation. http://www.ncbi.nlm.nih.gov/pubmed/19444485
Exon 02 Nonsense never used c.87C>A p.Cys29X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/18846626
Exon 02 Nonsense 292T>G c.90T>G p.Tyr30X Pathogenic Alport syndrome, truncated protein http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 02 Nonsense never used c.107C>G p.Ser36X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 02 Deletion never used c.119delG p.Cys40fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 02-36 Large Duplication never used c.82-27.699_3246
+16.073dup
p.Ala28_Lys1082dup Pathogenic Alport syndrome. Around 130kb duplication from intron 1 to intron 36. In frame. Interrupt GXY collagenous domain and adds 1054 amino acid. Mutation found in French Polynesia http://www.ncbi.nlm.nih.gov/pubmed/15149316
Exon 02-51 Large Deletion never used c.82-?_5058+?del p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307728
Exon 03 Insertion c.353insA355insT c.151_152insA
+156dup
p.Gly51fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 03 Missense never used c.152G>T p.Gly51Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033288
Exon 03 Missense 363G>A c.161G>A p.Gly54Asp Moderate Affected individual, Later onset (microhematruria at 22). Originally reported as 362G>A Age at ESRD 40. Reported also in Renieri 1995 http://www.ncbi.nlm.nih.gov/pubmed/8825605
Exon 03-37 Large Deletion never used c.142-?_ 3373+?del p.? Pathogenic Deletion exon 3 to 37 http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 04 Deletion 452delG c.250delG p.Gly84fs Pathogenic Alport syndrome. Mut originally documented as fs85,stop +68 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 04 Missense never used c.262C>T p.Pro88Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 04-47 Large Deletion never used c.232-?_ 4510+?del p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 05 Missense never used c.286G>A p.Gly96Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 05 Deletion 495delC c.293delC p.Pro98fs Pathogenic Alport syndrome. Found in 2 famillies (Bekheirnia (2010) http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 05-10 Large Deletion never used c.277-?_ 609+?del p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/2349482
Exon 06 Deletion never used c.351_359 del p.Pro118_Gly120del Pathogenic Alport Syndrome. Found late onset in Tang 2010 http://www.ncbi.nlm.nih.gov/pubmed/18846626
Exon 06 Indel never used c.359_363delGTATTinsATAC p.Gly120fs Moderate Mutation presente in a familly with only renal disease http://www.ncbi.nlm.nih.gov/pubmed/23085274
Exon 06 Missense never used c.367G>A p.Gly123Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 06 Missense never used c.368G>A p.Gly123Glu Moderate Alport Syndrome. Average age ESRD >30. No ocular or hearing abnormalities in patients. Gly123 occurs prior to Gly-X-Y repeats http://www.ncbi.nlm.nih.gov/pubmed/24522658
Exon 06 Splice Site never used c.384G>A p.Gly108-Lys128del Pathogenic Mutation of donor splice site. Deletion of exon 6 observed on cDNA in skin biopsy http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 07 Missense never used c.385G>A p.Gly129Arg Moderate Alport syndrome. Late onset ESRD at 38 http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 07 Missense 588G>T c.386G>T p.Gly129Val Pathogenic Alport syndrome. Possible splice site muation http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 07 Nonsense 590G>T c.388G>T p.Glu130X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 07 Missense never used c.412G>A p.Gly138Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033289
Exon 07 Missense never used c.430G>C p.Gly144Arg Moderate Alport Syndrome-Late onset-ESRD at 31. http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 07 Missense never used c.431G>A p.Gly144Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 08 Deletion 642del G c.440delG p.Gly147fs Pathogenic Alport Syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 08 Deletion 648delC c.446delC p.Pro149fs Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 08 Missense never used c.458G>A p.Gly153Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 09 Deletion never used c.476del p.Gly159fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 09 Missense 722G>C c.520G>C p.Gly174Arg Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 09 Missense 731G>C c.529G>C p.Gly177Arg Moderate Alport syndrome. Late onset Age at ESRD 34 (M)-55 (F). Reported by others http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 09 Missense never used c.530G>A p.Gly177Asp Pathogenic Alport syndrome hematuria and proteinuria ESRD at 24 in a male patient http://www.aruplab.com/
Exon 09 Deletion 735delC c.533delC p.Pro178fs Pathogenic Alport syndrome; Protein Truncation. http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 09 Missense never used c.538G>A p.Gly180Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 10 Missense never used c.548G>T p.Gly183Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 10 Insertion 752_753insC c.550dup p.Leu184fs Pathogenic Alport syndrome. Truncated protein was reported as c.752insC in Martin (1998) and c.750insC in Hertz (2001) http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 10 Insertion never used c.573_574dup p.Gly192fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 10 Missense 776G>A c.574G>A p.Gly192Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 10 Missense 786G>A c.584G>A p.Gly195Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 10 Deletion never used c.590delC p.Pro197fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307726
Exon 10 Missense 795G>A c.593G>A p.Gly198Glu Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 10 Missense 804G>T c.602G>T p.Gly201Val Moderate Alport syndrome. Late onset Age at ESRD: in male 34 years http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 11 Deletion 812_830del19 c.610_628del19 p.Gly204fs Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 11 Deletion c.813_814delGC c.611_612del p.Gly204fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 11 Deletion 836delC c.634delC p.Pro212fs Pathogenic Alport syndrome; truncated protein Originally reported as 211fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 11 Missense 840G>A c.638G>A p.Gly213Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 12 Missense 848G>A c.646G>A p.Gly216Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 12 Missense never used c.647G>A p.Gly216Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 12 Insertion never used c.648dup p.Asn217fs Pathogenic Alport Syndrome. Truncated protein. Originally documented as c.646_647insG http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 12 Missense 857G>A c.655G>A p.Gly219Ser Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 12 Nonsense never used c.682G>T p.Glu228X Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/21332469
Exon 13 Missense 890G>C c.688G>C p.Gly230Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 13 Missense never used c.689G>A p.Gly230Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 13 Missense never used c.698G>T p.Gly233Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033290
Exon 13 Deletion never used c.711_713delACC p.Pro238del Suspected Pathogenic Alpost Syndrome hematuria and proteinuria, hearing loss (male 36) http://www.aruplab.com/
Exon 13 Missense never used c.715G>A p.Gly239Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 13 Missense 918G>A c.716G>A p.Gly239Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 13 Deletion 963_964delAG c.761_762delAG p.Glu254fs Pathogenic Alport Syndrome Originally reported as 962/delAG, truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 14 Deletion never used c.788delC p.Pro263fs Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 14 Missense 992G>C c.790G>C p.Gly264Arg Moderate Alport syndrome, late onset age at ESRD (48) http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 14 Missense never used c.791G>A p.Gly264Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 14 Nonsense 998C>T c.796C>T p.Arg266X Pathogenic Alport syndrome; truncated protein. Reported in other studies http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 14 Missense never used c.800G>T p.Gly267Val Pathogenic Alport Syndrome http://www.aruplab.com/
Exon 14 Insertion never used c.801dup p.Pro268fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033291
Exon 14 Deletion 1014delC c.812delC p.Pro271fs Pathogenic Alport Syndrome frameshift http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 14-51 Large Deletion never used c.781-?_ 5058+?del p.? Pathogenic Alport syndrome. truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 15 Nonsense 1061G>T c.859 G>T p.Glu287X Pathogenic Allport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 15 Deletion never used c.863del p.Lys288fs Pathogenic Originaly reported as r.862 or 863dela http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 15 Deletion c.1068delC c.866delG p.Gly289fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 15 Deletion c.1075delA c.873delA p.Gly292fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 15 Missense 1076G>C c.874G>C p.Gly292Arg Moderate Alport syndrome. Late onset age at ESRD (33 years old- Bekheirnia, 2010) http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 15 Deletion c.1077delG c.875delG p.Gly292fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 15 Missense 1086G>A c.884G>A p.Gly295Asp Moderate Alport syndrome. Reported as late onset (ESRD at 49.5 years) in Pont-Kingdon et al 2009. http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 15-41 Large deletion never used c.835-?_3790+?del p.? Pathogenic Alport syndrome http://www.aruplab.com/
Exon 16 Missense 1094G>A c.892G>A p.Gly298Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 16 Nonsense 1115G>T c.913G>T p.Glu305X Pathogenic Alport Syndrome. Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 16 Missense 1122G>A c.920G>A p.Gly307Asp Moderate Alport syndrome. Late onset (ESRD at 43 years) http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 16 Missense 1130G>A c.928G>A p.Gly310Arg Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 17 Missense 1139G>A c.937G>A p.Gly313Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 17 Insertion 1147_1148insT c.945dup p.Gly316fs Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 17 Missense never used c.955G>C p.Gly319Arg Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/10684360
Exon 17 Missense 1158G>A c.956G>A p.Gly319Asp Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 17 Nonsense never used c.960C>A p.Tyr320X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 17 Missense never used c.965G>A p.Gly322Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 17 Silent 1172C>T c.970C>T p.= Benign Silent polymorphism http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 17 Nonsense 1175G>T c.973G>T p.Gly325X Pathogenic Alport Syndrome , truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 17 Missense 1176G>A c.974G>A p.Gly325Glu Pathogenic Alport syndrome. De novo mutation. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 18 Missense 1194G>T c.992G>T p.Gly331Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 18 Missense never used c.1001G>T p.Gly334Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/18616531
Exon 18 Missense never used c.1009G>A p.Gly337Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307721
Exon 18 Missense never used c.1010G>A p.Gly337Asp Pathogenic Alport syndrome Hematuria and familly history of AS http://www.aruplab.com/
Exon 19 Insertion c.1262_1263insA c.1060dup p.Thr354fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 19 Insertion 1264_1265insT c.1062dup p.Ile355fs Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 19 Deletion 1276delA c.1074delA p.Lys358fs Pathogenic Alport syndrome Originally reported as 1274delA, truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 19 Missense never used c.1075G>A p.Gly359Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033292
Exon 19 Missense never used c.1084G>A p.Gly362Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 19 Missense 1296G>A c.1094G>A p.Gly365Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 19 Silent 1297G>C c.1095G>C p.= Benign In benign haplotype: G365G, I444S, L685L, Q1171Q, D1425D. Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 19 Missense 1314G>A c.1112G>A p.Gly371Glu Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 19 Nonsense 1319C>T c.1117C>T p.Arg373X Pathogenic Alport syndrome. Truncated protein. Observed in several families (Bekheirnia (2010)) http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 19 Missense 1323G>C c.1121G>C p.Gly374Ala Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 19 Nonsense never used c.1135C>T p.Gln379X Pathogenic Alport syndrome. Described in a large Turkish family http://www.ncbi.nlm.nih.gov/pubmed/21848006
Exon 19 Missense never used c.1139G>A p.Gly380Asp Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 19 Missense 1350G>A c.1148G>A p.Gly383Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 19-22 Large Deletion never used c.1033-?_1516+?del p.? Pathogenic Alport syndrome. truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 20 Deletion c.1383delG c.1181del p.Glu394fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 20 Silent 1393C>G c.1191C>G p.= Benign Found in conjunction with p.G403V Mutation http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 20 Missense 1401G>A c.1199G>A p.Gly400Glu Moderate Alport syndrome. Late onset Age at ESRD: 35. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 20 Missense 1410G>T c.1208G>T p.Gly403Val Pathogenic Alport syndrome. Found in conjunction with p.G397G silent polymorphism Mutation; Interrupts Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 20 Insertion never used c.1213dup p.Arg405fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/19965530
Exon 20 Insertion 1419_1420
insGGGG
c.1214_1217dup p.Gln407fs Pathogenic Alport syndrome; truncated protein. http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 20 Missense 1419G>T c.1217G>T p.Gly406Val Moderate Alport syndrome. reported in several studies -late onset-ESRD at 31.5 http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 20 Nonsense 1422C>T c.1220C>T p.Gln407X Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 20 Nonsense never used c.1222A>T p.Lys408X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 20 Missense 1428G>A c.1226G>A p.Gly409Asp Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 20 Missense 1437G>T c.1235G>T p.Gly412Val Moderate Alport syndrome. Late onse age at ESRD (33). De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 20 Missense 1445G>A c.1243G>A p.Gly415Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 20 Deletion never used c.1254delT p.Pro419fs Pathogenic Alport syndrome; Originally documented as c.1253delT in exon 19 http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 20 Missense 1461G>T c.1259G>T p.Gly420Val Pathogenic Alport Syndrome. Reported in unrelated patients. http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 20 Deletion 1467delC c.1265delC p.Pro422fs Pathogenic Alport syndrome. truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 20 Missense 1470G>A c.1268G>A p.Gly423Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 20 Missense never used c.1276G>A p.Gly426Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 20 Insertion 1482_1483insA c.1280dup p.Pro428fs Pathogenic Alport syndrome; truncated protein. http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 20 Missense never used c.1286G>A p.Gly429Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 20 Insertion 1486_1487insG c.1288_1289dup p.Ala430fs Pathogenic Alport syndrome originally documented as p.P446X http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 20 Missense 1491C>A c.1289C>A p.Ala430Asp Suspected Benign Non-conserved amino acid http://www.ncbi.nlm.nih.gov/pubmed/8940268
Exon 20 Missense never used c.1294G>A p.Gly432Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 20 Missense 1533T>G c.1331T>G p.Ile444Ser Benign Previously reported as a polymorphism (Inoue 1999, Barker 2001) .Detected in 3 of 60 families; In association with benign polymorphisms: G365G, I444S, L685L, Q1171Q, D1425D http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 20-26 Large Deletion never used c.1166-?_2041+?del p.? Pathogenic Alport syndrome. truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 21 Deletion 1552_1554delAT c.1350_1351delAT p.Ile450fs Pathogenic Alport syndrome. Protein truncation; Originally reported as 1550delAT, fs450, stop+2 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 21 Deletion 1567del9 c.1365del9 p.Pro456_Pro458del Pathogenic Alport syndrome. De novo mutation. In frame deletion of Pro-Gly-Pro http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 21 Deletion 1568_1576del c.1366_1374del p.Pro456_Pro458del Moderate Alport syndrome. Late onset. Age ESRD: 38 http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 21 Deletion 1573-1581del c.1371_1379del p.Pro458_Gly460del Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 21 Insertion c.1578insC c.1376dup p.Gly460fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 21 Missense never used c.1379G>T p.Gly460Val Pathogenic Alport Syndrome renal transplant at age 50. found in two familly member with the disease http://www.aruplab.com/
Exon 21 Missense 1599G>A c.1397G>A p.Gly466Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 21 Missense never used c.1406G>A p.Gly469Glu Pathogenic Alport Syndrome. Originally reporte to be in exon 25. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 21 Missense 1616G>A c.1414G>A p.Gly472Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 21 Missense never used c.1423G>A p.Gly475Ser Pathogenic Alport syndrome. Found in 2 families. Splicing might be affected (M. Gregory pers. com) http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 22 Insertion never used c.1442dup p.Cys481fs Pathogenic Originaly reported as r.1441_1443insG, reported as c.1440_1441insG (HGMD) http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 22 Missense 1674G>A c.1472G>A p.Gly491Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 22 Missense 1683G>A c.1481G>A p.Gly494Asp Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 22 Deletion 1685del36 c.1483del36 p.Gln495_Gly506del Pathogenic Alport syndrome. De novo mutation. In frame deletion of 12 amino acids http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 22 Missense 1691G>T c.1489G>T p.Gly497Cys Moderate Alport Syndrome late onset mean age at ESRD: 47 http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 22 Missense never used c.1498G>C p.Gly500Arg Moderate Alport syndrome. ESRD after 30 http://www.ncbi.nlm.nih.gov/pubmed/19965530
Exon 22-28; 38-51 Large Deletion never used c.1424-?_ 2244+?del;
3374-?_5058+?del
p.? Pathogenic Alport syndroem. truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 23 Nonsense never used c.1537C>T p.Gln513X Suspected Pathogenic Alport syndrome ESDR at 21 in a male patient http://www.aruplab.com/
Exon 23 Deletion 1744_1745delAG c.1542_1543delAG p.Lys514fs Moderate Alport syndrome Protein truncation late onset (ESRD at 30) http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 23 Missense never used c.1526G>A p.Gly509Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033293
Exon 23 Missense 1763G>T c.1561G>T p.Gly521Cys Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 23 Missense 1764G>A c.1562G>A p.Gly521Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 23 Deletion 1768delA c.1566delA p.Ala522fs Pathogenic Alport syndrome; truncated protein. Orignally reported as 523fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 23 Missense 1773G>A c.1571G>A p.Gly524Asp Moderate Alport Syndrome late onset mean age at ESRD: 41 http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 23 Missense never used c.1579G>A p.Gly527Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 23 Deletion 1783_1798del16 c.1581_1596del16 p.Leu528fs Pathogenic Alport syndrome. Aberrant splicing. Observed in 2 independant famillies http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 24 Missense never used c.1589G>A p.Gly530Asp Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/21143337
Exon 24 Missense never used c.1598G>A p.Gly533Glu Moderate Alport syndrome. Late onset Age at ESRD 32 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 24 Missense never used c.1607G>A p.Gly536Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 24 Missense 1835G>C c.1633G>C p.Gly545Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 24 Missense 1836G>T c.1634G>T p.Gly545Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 24 Missense never used c.1643G>A p.Gly548Asp Moderate Alport syndrome. Late onset Age at ESRD 45 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 24 Deletion 1855delC c.1653delC p.Leu550fs Pathogenic Alport syndrome; originally documented as 1855_1856delC, p.G555X http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 24 Missense 1874G>C c.1672G>C p.Gly558Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 24 Missense 1883G>A c.1681G>A p.Gly561Arg Pathogenic Alport syndrome. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 24 Missense never used c.1690G>T p.Gly564Cys Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/19965530
Exon 24 Missense 1902G>C c.1700G>C p.Gly567Ala Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 24 Missense never used c.1709G>A p.Gly570Glu Pathogenic Alport Syndrome diagnosted by kidney biopsy. likely de novo- hearing loss at 22 in a male patient http://www.aruplab.com/
Exon 24 Missense 1920G>A c.1718G>A p.Gly573Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 24 Missense never used c.1726G>A p.Gly576Ser Moderate Alport syndrome. Late onset.ESRD at 44. http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 24 Missense 1937G>A c.1735G>A p.Gly579Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 24 Missense 1937G>A c.1736G>A p.Gly579Gln Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 24 Nonsense never used c.1738C>T p.Gln580X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 24 Missense never used c.1744G>A p.Gly582Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 24 Deletion c.1959_1972del14 c.1757_1770del p.Leu586fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)
c.1739_1948+98del p.Gln580_Gly650delinsArg Pathogenic Alport Syndrome. Originally Documented as 1941 del1.4kb (to 2150+98) del aa 545-649 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 25 Missense 1982G>A c.1780G>A p.Gly594Ser Moderate Alport syndrome; found in four apparently unrelated families. late onset . Age at ESRD in male 28-74 http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 25 Missense (or splice site) 1985G>A c.1783G>A p.Gly595Arg Moderate Alport Syndrome late onset (age at ESRD in male 30). Wang (2012) classifies as splicing defect and observed deletion of exon 25 sequences from mRNA. http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 25 Missense 2010G>T c.1808G>T p.Gly603Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 25 Missense 2027G>C c.1825G>C p.Gly609Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 25 Missense 2028G>T c.1826G>T p.Gly609Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 25 Missense never used c.1835G>A p.Gly612Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 25 Missense never used c.1843G>C p.Gly615Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 25 Missense never used c.1844G>A p.Gly615Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307722
Exon 25 Missense 2057C>T c.1855C>T p.Pro619Ser Suspected Benign Non-conserved amino acid http://www.ncbi.nlm.nih.gov/pubmed/8940269
Exon 25 Missense/Splice Site never used c.1856C>T p.Pro619Leu Moderate Alport syndrome. Observed in a male with late onset ESDR (38 years old)Mutation should change a Proline to a leucine. cDNA studies showed that splicing is affected and nt 1780-1885 deleted from the cDNA. Reported by others (Hertz 2001, Palenzuela 2002) http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 25 Missense 2063G>T c.1861G>T p.Gly621Cys Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 25 Missense never used c.1862G>T p.Gly621Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033294
Exon 25 Missense 2073G>A c.1871G>A p.Gly624Asp Moderate Alport syndrome. Interrupts continuous Gly-X-Y. Found in 6 unrelated Slovenian famillies (Slajpah, 2007). Previously reported By Martin (1998). Also reported as moderate in Hellenic families by Dermothenous et al, 2012. Reported as c.1871C>A in Fallerini_2014. http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 25 Missense 2079G>C c.1877G>C p.Gly626Ala Moderate Alport Syndrome late onset (age at ESRD in male 38-60) http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 25 Missense never used c.1883C>T p.Pro628Leu Moderate Alport Syndrome late onset (age at ESRD in male 30-57) http://www.ncbi.nlm.nih.gov/pubmed/21332469
Exon 25 Missense 2088G>A c.1886G>A p.Gly629Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 25 Missense 2097G>A c.1895G>A p.Gly632Asp Pathogenic Alport Syndrome. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 25 Missense 2099G>A c.1897G>A p.Glu633Lys Moderate Alport Syndrome. Late onset (>30years at ESRD) http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 25 Missense 2106G>A c.1904G>A p.Gly635Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 25 Missense 2114G>A c.1912G>A p.Gly638Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 25 Missense never used c.1913G>A p.Gly638Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 25 Missense never used c.1919C>T p.Ala640Val Uncertain Alport Syndrome. ESRD at 39 in a male patient http://www.aruplab.com/
Exon 26 Missense 2159G>A c.1957G>A p.Gly653Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 26 Deletion 2162delG c.1960delG p.Asp654fs Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 26 Deletion never used c.1990_2007del p.Lys664_Gly669del Pathogenic reported as c.1992_2009del18 (HGMD) http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 26 Missense 2194G>T c.1992G>T p.Lys664Asn Suspected Benign Non-conserved amino acid http://www.ncbi.nlm.nih.gov/pubmed/8940270
Exon 26 Missense 2199G>A c.1997G>A p.Gly666Asp Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 26 Missense 2207G>C c.2005A>G p.Gly669Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 26 Missense 2208G>C c.2006G>C p.Gly669Ala Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 26 Missense never used c.2014G>C p.Gly672Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 26 Deletion 2220delG c.2018delG p.Arg673fs Pathogenic Alport syndrome. De novo mutation. truncated protein. 673fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 26 Insertion never used c.2020_2026dup p.Asp676fs Pathogenic Alport syndrome http://www.aruplab.com/
Exon 26 Missense never used c.2023G>A p.Gly675Ser Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 26 Missense never used c.2032G>T p.Gly678Cys Pathogenic Renal biopsy consistent with, but not diagnostic of Alport. Both parents negative for the mutation and clinical findings. Mutation likely de novo ASRD at 28 and Hearing loss at 30 in a female patient http://www.aruplab.com/
Exon 26-37 Large Deletion never used c.1949-?_ 3373+?del p.? Pathogenic Alport Syndrome. http://www.ncbi.nlm.nih.gov/pubmed/18616531
Exon 27 Missense 2244G>A c.2042G>A p.Gly681Asp Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 27 Nonsense 2252G>T c.2050G>T p.Gly684X Pathogenic Alport Syndrome. Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 27 Missense 2253G>T c.2051G>T p.Gly684Val Moderate Alport Syndrome; Reported as adult type by authors. http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 27 Silent 2257T>C c.2055T>C p.= Benign In benign haplotype: G365G, I444S, L685L, Q1171Q, D1425D. Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 27 Deletion never used c.2057delC p.Pro686fs Pathogenic Alport syndrome. Frame shift mutation http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 27 Missense 2262G>A c.2060G>A p.Gly687Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 27 Insertion never used c.2062_2114dup p.Ile706fs Pathogenic Alport syndrome. cDNA study indicated skipping of exon 27. http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 27 Missense never used c.2077G>A p.Gly693Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033295
Exon 27 Missense never used c.2095G>A p.Gly699Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 27 Nonsense never used c.2098G>T p.Glu700X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/18616531
Exon 27 Missense 2309A>G c.2107A>G p.Ile703Val Benign Found in conjunction with p.G325R mutation. Pathogenicity of this substitution not established http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 27 Missense 2348G>C c.2146G>C p.Gly716Arg Pathogenic Alport Syndrome Donor splice. Skip exon 28 http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 28 Missense never used c.2155G>C p.Gly719Arg Moderate Alport syndrome. Late onset Age at ESRD>38 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 28 Missense never used c.2156G>T p.Gly719Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 28 Missense never used c.2164G>C p.Gly722Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 28 Missense 2367G>A c.2165G>A p.Gly722Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 28 Deletion 2408_2428del21 c.2206_2226del21 p.Glu736_Pro742del Pathogenic Alport Syndrome. In frame deletion of 7 aa http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 28 Missense never used c.2215C>G p.Pro739Ala Uncertain rs104886164- frequency of 0.5% (1000 Genome), predicted tolerated by polyphen (0.11) and begign (0.338) by PolyPhen2 http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 28 Missense 2421G>A c.2219G>A p.Gly740Glu Pathogenic Alport Syndrome. Originaly reported as c.2420 G>A http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 28 Missense 2430G>A c.2228G>A p.Gly743Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 28 Missense never used c.2237G>A p.Gly746Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033296
Exon 28-32 Large Duplication never used c.2147-?_ 2767+?dup p.? Pathogenic Alport syndrome. Aberrant protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 29 Missense never used c.2287G>A p.Gly763Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 29 Missense never used c.2288G>A p.Gly763Glu Moderate Alport syndrome. Late onset Age at ESRD 42 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 29 Missense 2499G>A c.2297G>A p.Gly766Asp Moderate Alport Syndrome late onset (age at ESRD in male 36) http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 29 Missense never used c.2305G>A p.Gly769Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 29 Missense (or splice site) never used c.2306G>T p.Gly769Val (or p.?) Pathogenic At position + 61 nt in exon 29. In cDNA from skin biopsy, deletion of exon 29 and insertion of intron 30 sequences 3' of exon 30. http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 29 Missense never used c.2315G>C p.Gly772Ala Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 29 Insertion 2524_2525insA c.2322dup p.Gly775fs Pathogenic Alport Syndrome Protein truncation. Originally reported as 2520_2521insA http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 29 Missense 2534G>A c.2332G>A p.Gly776Ser Moderate Alport syndrome. Possible late onset age ESRD 33-42 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 29 Deletion 2550delC c.2348delC p.Pro783fs Pathogenic Alport syndrome. Originally Documented as 2549delC http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 29 Silent 2551G>A c.2349G>A p.= Benign In benign haplotype: G365G, I444S, L685L, Q1171Q, D1425D. Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 29 Missense 2562G>T c.2360G>T p.Gly787Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 29 Missense 2588G>A c.2386G>A p.Gly796Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 29 Missense (or splice site) never used c.2387G>T p.Gly796Val (or p.?) Pathogenic Position -9 inside exon 29. Deletion of exon 29 sequences observed in mRNA (r.2245_2395del) in skin biopsy http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 29 Splice Site c.2596A>G c. 2394A>G p.? Pathogenic Alport syndrome. K798K, Splice site variant. Found in affected members (age ESRD= 16-36). Exon 29 skipped (M. Gregory pers. Com) http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 30 Missense never used c.2396G>A p.Gly799Asp Pathogenic Alport syndroome hematuria and proteinuria- reported in 2 familly members http://www.aruplab.com/
Exon 30 Missense 2606G>A c.2404G>A p.Gly802Arg Pathogenic Alport syndrome. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 30 Deletion never used c.2423delG p.Gly808fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307727
Exon 30 Missense 2633G>A c.2431G>A p.Gly811Arg Pathogenic Alport syndrome. Originally Documented as 2633C>A, instead of G>A http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 30 Missense 2634G>T c.2432G>T p.Gly811Val Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
c.2434delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30
p.Pro812fs Pathogenic Alport syndrome. Creates frameshift. http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 30 Indel 2654_2656delATA/
2653_2654insT
c.2452_2454delATA/
2451_2452insT
p.Ile818fs Pathogenic Alport Syndrome Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 30 Missense 2666G>C c.2464G>C p.Gly822Arg Moderate Alport Syndrome. ESRD>30 years old http://www.ncbi.nlm.nih.gov/pubmed/10563487
Exon 30 Missense never used c.2465G>C p.Gly822Val Alport syndrome Interruppt Gly-X-Y segment. Observed I a mother with ESRD (50) and daugher with mild to moderate renal function impairment and microhematuria In press
Exon 30 Nonsense never used c.2473G>T p.Gly825X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/19965532
Exon 30 Deletion c.2677_2685del9 c.2475_2483
delACCACCAGG
p.Pro826_Gly828del Pathogenic Alport syndrome. Originaly reported as 2678_2687del. Found in several familles. http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 30 Deletion never used c.2476delC p.Pro826fs Moderate Alport syndrome. Late onset Age at ESRD 44 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 30 Missense never used c.2482G>A p.Gly828Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033297
Exon 30 Missense never used c.2483G>A p.Gly828Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 30 Missense never used c.2500G>C p.Gly834Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 30 Splice Site never used c.2509G>A p.? Pathogenic Alport syndrome. 5'ss weakened, cryptic 5' and 3' ss activated; in frame insertion of 9nt of intron 30 as a mini exon of 3 aa http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 31 Missense never used c.2546G>A p.Gly849Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033298
Exon 31 Deletion 2752_2775del c.2550_2573del p.Pro851_Pro858del Pathogenic Alport syndrome; inframe deletion http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 31 Missense 2756G>A c.2554G>A p.Gly852Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 31 Missense 2757G>A c.2555G>A p.Gly852Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 31 Missense never used c.2578G>C p.Gly860Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 31 Indel never used c.2587_2606delins75 p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 31 Deletion 2791del36 c.2589del36 p.Ser864_Gly875del Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 31 Deletion 2797-2814del18 c.2595_2612del18 p.Gly866_Pro871del Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 31 Missense 2799G>A c.2597G>A p.Gly866Glu Moderate Alport syndrome. Late onset ESRd at age >31. Detected in two apparently unrelated families http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 31 Missense 2807G>A c.2605G>A p.Gly869Arg Moderate Alport syndrome. Found in five unrelated individuals and reported previously in two unrelated Italian families [Renieri], a French family [Knebelmann]. Also reported by Martin 1998. Reported in 3 additional chinese patients (Wang 2012). late onset age at ESRD: 19-35 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 31 Missense 2816G>C c.2614G>C p.Gly872Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 31 Missense never used c.2623G>C p.Gly875Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 31 Missense never used c.2624G>C p.Gly875Ala Pathogenic Alport Syndrome Hematuria and proteinuria http://www.aruplab.com/
Exon 31 Deletion 2827delA c.2625delA p.Gly875fs Pathogenic Alport syndroem. Protein truncation; originally documented as fs 876, stop+25 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 31 Nonsense never used c.2632G>T p.Gly878X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 31 Missense 2835G>T c.2633G>T p.Gly878Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 31 Deletion 2845delG c.2643delG p.Leu882fs Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 31 Missense never used c.2659G>C p.Gly887Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 31 Missense never used c.2660G>T p.Gly887Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 31 Missense never used c.2677G>C p.Gly893Arg Pathogenic Alport Syndrome. Found in female compound heterozygous. Might be adult onset. http://www.ncbi.nlm.nih.gov/pubmed/24337245
Exon 31-36 Large Deletion never used c2510-?_3246+?del p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 32 Deletion c.2888delG c.2686delG p.Gly896fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 32 Missense 2894A>G c.2692A>G p.Met898Val Moderate Mild AS. M898 conserved in other collagen and other species. Tentatively classified as a mutation: female with hematuria and father with hematuria and HL only at age 70 http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 32 Missense never used c.2696G>T p.Gly899Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 32 Missense never used c.2705G>A p.Gly902Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 32 Insertion never used c.2708dup p.Pro904fs Pathogenic Alport syndrome. Reported as g.2707_2708insC http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 32 Missense never used c.2714G>A p.Gly905Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 32 Nonsense never used c.2722G>T p.Gly908X Pathogenic Alport syndrome http://www.aruplab.com/
Exon 32 Missense never used c.2731G>A p.Gly911Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 32 Missense never used c.2732G>A p.Gly911Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10684360
Exon 32 Deletion never used c.2738delC p.Pro913fs Pathogenic Alport syndrome. Nephritis at age 3 in mal patient- familly history http://www.aruplab.com/
Exon 32 Missense 2948A>G c.2746A>G p.Ser916Gly Pathogenic Alport Syndrome- causes skipping of exon 32-demonstrated by mRNA studies http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 32-36 Large Deletion never used c.2678-?_3246+?del p.? Pathogenic Alport Syndrome. Deletion exons 32-36 http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 33 Nonsense never used c.2782C>T p.Gln928X Moderate Alport syndrome. Reported in 2 individuals. Age of ESRD 32-33 http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 33 Nonsense 2990C>T c.2788C>T p.Gln930X Pathogenic Alport syndrome; truncated protein http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 33 Insertion 3004_3005insT c.2802dup p.Gly935fs Pathogenic Alport Syndrome Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 33 Missense never used c.2804G>A p.Gly935Asp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 33 Nonsense never used c.2815G>T p.Glu939X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307724
Exon 33 Missense 3023G>T c.2821G>T p.Gly941Cys Moderate Alport Syndrome late onset (age at ESRD in male >50). Also classified as adult type by Martin 1998 (age ESRD: 40) http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 33 Deletion 3025delTAG c.2823_2825delTAG p.Ser942del Pathogenic Alport syndrome. De novo mutation. In frame deletion of 1amino acid http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 33 Deletion never used c.2831del p.Gly944fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033299
Exon 33 Missense 3042 G>A c.2840G>A p.Gly947Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 33 Deletion 3048delC c.2846delC p.Pro949fs Pathogenic Alport Syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 33 Missense 3060G>T c.2858G>T p.Gly953Val Pathogenic Alport syndrome- This mutation was detected on the same allele than p.G1211E. Described also in Inoue (1999) with slight proteinuria associated with G1158R. Detected in 4 chinese patients (Wang 2012). http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 34 Deletion 3131delAG c.2929delAG p.Val977fs Pathogenic Alport syndrome. Originally reported as fs 971,stop+15 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 34 Deletion 3142delA c.2940delA p.Pro980fs Pathogenic Alport syndrome; De novo mutation. Truncated protein. 980fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 34 Deletion 3145delA c.2943delA p.Lys981fs Pathogenic Alport syndrome. Juvenile case. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8081393
Exon 34 Deletion never used c.2947del p.Tyr983fs Pathogenic Alport syndrome. reported as deletion of T at position c.2946delT (G982fs). Current nomenclature classifies it as c.2947del (p.Tyr983Ilefs13). http://www.ncbi.nlm.nih.gov/pubmed/21332469
Exon 34 Deletion 3161_3178del18 c.2959_2976del18 p.Pro987-Gln992del Pathogenic Alport Syndrome. 2 Gly-X-Y deleted http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 34 Deletion never used c.2965_2982delGACCCAGGGCAACCTGGA p.Asp989_Gly994del Pathogenic Alport syndrome- familly histry http://www.aruplab.com/
Exon 34 Missense never used c.2999G>T p.Gly1000Val Benign Associated with benign familial hematuria http://www.ncbi.nlm.nih.gov/pubmed/19937058
Exon 34-51 Large Deletion never used c.2918-?_5058+?del p.? Pathogenic Alport syndrome. del 300kb. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 35 Missense 3246G>T c.3044G>T p.Gly1015Val Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 35 Deletion never used c.3046delC p.Gln1016fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 35 Deletion 3259delT c.3057delT p.Leu1019fs Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 35 Missense 3282G>T c.3080G>T p.Gly1027Val Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 35 Missense 3290G>A c.3088G>A p.Gly1030Ser Moderate Alport syndrome. Late onset. Age at ESRD: 37 http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 35-36 Large Deletion never used c.3017-?_3246+?del p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 36 Missense 3309G>T c.3107G>T p.Gly1036Val Pathogenic Alport syndrome.De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 36 Missense 3317G>A c.3115G>A p.Gly1039Ser Pathogenic Alport syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 36 Missense 3336G>A c.3134G>A p.Gly1045Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 36 Deletion c.3369delC c.3167del C p.Pro1056fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 36 Nonsense 3371G>T c.3169G>T p.Gly1057X Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 36 Nonsense 3380G>T c.3178G>T p.Gly1060X Pathogenic Alport syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 36 Nonsense 3383C>T c.3181C>T p.Gln1061X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 36 Missense never used c.3188G>T p.Gly1063Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 36 Missense 3398G>A c.3196G>A p.Gly1066Ser Pathogenic Alport syndrome. Reported in unrelated patients. http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 36 Missense 3399G>C c.3197G>C p.Gly1066Ala Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 36 Missense never used c.3206G>T p.Gly1069Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 36 Nonsense 3414C>G c.3212C>G p.Ser1071X Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 37 Silent 3457G>A c.3255T>A p.= Benign Suspected polymorphism http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 37 Missense never used c.3256G>C p.Gly1086Arg Moderate Alport syndrome. Late onset at ESRD (male 33 years) http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 37 Missense 3459G>A c.3257G>A p.Gly1086Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 37 Nonsense 3491A>T c.3289A>T p.Lys1097X Pathogenic Alport syndrome . Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 37 Missense 3513G>T c.3311G>T p.Gly1104Val Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 37 Missense 3521G>A c.3319G>A p.Gly1107Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 37 Insertion never used c.3326_3327insT p.Gly1110fs Pathogenic Alport Syndrome ESRD at 25. Hearing loss http://www.aruplab.com/
Exon 37 Deletion 3533delA c.3331delA p.Thr1111fs Pathogenic Alport syndrome. Truncated protein; Originally documented as 1110fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 37 Insertion 3539_3540insCCTG c.3334_3337dup p.Gly1113fs Pathogenic Alport syndrome. Truncated protein; Originally documented as 1112fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 37 Missense never used c.3347G>T p.Gly1116Val Moderate Alport syndrome. Late onset ESRD at 48, no occular changes or hearing lost observed http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 37-51 Large Deletion never used c.3247-?_ 5058+?del p.? Pathogenic Alport Syndrome. http://www.ncbi.nlm.nih.gov/pubmed/18584212
Exon 38 Indel c.3605del16ins3 c.3403_3418delins3 p.Ile1135fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 38 Deletion 3615delC c.3413delC p.Pro1138fs Pathogenic Originally documented as 3615_3616delC http://www.ncbi.nlm.nih.gov/pubmed/17396119
Exon 38 Missense 3629G>A c.3427G>A p.Gly1143Ser Moderate Alport syndrome. Late age on onset (39 (M) -63 F). Reported by others http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 38 Missense 3630G>A c.3428G>A p.Gly1143Asp Pathogenic Alport Syndrome. http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 38 Deletion never used c.3434delC p.Pro1145fs Pathogenic Alport syndrome. Hearing loss observed. http://www.aruplab.com/
Exon 38-51 Large Duplication never used c.3374-?_ 5058+?dup p.? Moderate Alport syndrome. ~35kb dupl (exon 38-51) Aberrant protein. Late onset ESRD 33 http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 39 Deletion never used c.3465delT p.His1156fs Pathogenic Alport syndrome- familly history- Hearing loss at 9 in a male patient http://www.aruplab.com/
Exon 39 Missense 3674 1G>T c.3472 1G>T p.Gly1158Arg Pathogenic Alport Syndrome. Associated with G953V and slight proteinuria http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 39 Deletion 3676delG c.3474delG p.Gly1158fs Pathogenic Alport Syndrome; Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 39 Nonsense never used c.3475C>T p.Gln1159X Pathogenic Alport Syndrome hematuria and proteinuria in a female patient http://www.aruplab.com/
Exon 39 Missense 3683G>A c.3481G>A p.Gly1161Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 39 Missense never used c.3491G>A p.Gly1164Asp Pathogenic Alport Syndrome hematuria in a female patient http://www.aruplab.com/
Exon 39 Missense 3701G>A c.3499G>A p.Gly1167Ser Moderate Alport syndrome. Late age on onset (32.6) http://www.ncbi.nlm.nih.gov/pubmed/10862091
Exon 39 Missense 3710G>A c.3508G>A p.Gly1170Ser Moderate Alport syndrome. Classified as moderate in Pont-kingdon 2009. Age at ESRD 38 http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 39 Deletion 3711delG c.3509delG p.Gly1170fs Pathogenic Alport syndrome. Truncated protein; 1170fs Originally documented as deletion of G at 3710-3711 http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 39 Silent 3715A>G c.3513A>G p.= Benign In benign haplotype: G365G, I444S, L685L, Q1171Q, D1425D. Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 39 Missense never used c.3526G>A p.Gly1176Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 39 Deletion 3729delG c.3527delG p.Gly1176fs Pathogenic Alport syndrome . Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 39 Missense never used c.3535G>A p.Gly1179Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 39 Nonsense 3740C>T c.3538C>T p.Gln1180X Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 39 Deletion 3745_3751
delGGGTGAA
c.3543_3549
delGGGTGAA
p.Lys1181fs Pathogenic Alport syndrome. Truncated protein; 1181fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 39 Missense 3746G>C c.3544G>C p.Gly1182Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 40 Deletion never used c.3554-?_3604+?del p.? Pathogenic Alport syndrome.Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 40 Insertion never used c.3584dup p.Gly1196fs Pathogenic Alport syndrome- familly history- Hearing loss at 7 in a male patient http://www.aruplab.com/
Exon 40 Silent 3784G>A c.3582C>T p.= Benign Suspected polymorphism http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 40 Missense 3788G>A c.3586G>A p.Gly1196Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 40 Missense never used c.3587G>A p.Gly1196Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 40 Silent never used c.3588A>G p.= Uncertain Suspected carrier of Alport Syndrome http://www.aruplab.com/
Exon 41 Missense never used c.3613G>A p.Gly1205Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 41 Deletion 3820_3824delTGGA c.3618_3622delTGGA p.Asp1206fs Pathogenic Alport syndrome. Truncated protein; 1206fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 41 Missense 3833G>C c.3631G>C p.Gly1211Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 41 Missense 3834G>A c.3632G>A p.Gly1211Glu Pathogenic Alport syndrome- This mutation was detected on the same allele than p.G953V http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 41 Missense never used c.3641G>A p.Gly1214Glu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 41 Deletion 3849delC c.3647delC p.Pro1216fs Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 41 Missense never used c.3650G>A p.Gly1217Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 41 Deletion 3859_3930del c.3657_3728del p.Gly1220_Pro1243del Pathogenic Alport Syndrome. 24 amino acids deleted in exon 41 http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 41 Missense 3861G>A c.3659G>A p.Gly1220Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 41 Missense never used c.3668G>A p.Gly1223Asp Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 41 Missense never used c.3685G>A p.Gly1229Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 41 Missense never used c.3686G>A p.Gly1229Asp Moderate Alport syndrome. was reported as G1229N and c.3686G>A- adult type (Cheong 2000) ESRD at 33 (Bekheirnia 2010). http://www.ncbi.nlm.nih.gov/pubmed/10684360
Exon 41 Insertion c.3894insC c.3692dup p.Gly1232fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 41 Missense 3896G>A c.3694G>A p.Gly1232Ser Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 41 Missense never used c.3695G>T p.Gly1232Val Pathogenic Alport Syndrome hematuria and proteinuria in a female patient http://www.aruplab.com/
Exon 41 Nonsense never used c.3700C>T p.Gln1234X Moderate Alport syndrome. Late onset Age at ESRD 42 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 41 Indel c.3908_3924delinsT c.3706_3722delinsT p.Pro236fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 41 Insertion 3912_3913insCC c.3709_3710dup p.Gly1238fs Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 41 Deletion 3912del52 c.3710_3761del52 p.Pro1237fs Pathogenic Alport Syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 41 Missense never used c.3721G>C p.Gly1241Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033301
Exon 41 Missense never used c.3722G>T p.Gly1241Val Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 41 Missense 3933G>A c.3731G>A p.Gly1244Asp Moderate Alport syndrome. Reported as late onset. ESRD at 49.5 years in Pont-Kingdon et al 2009. http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 41 Deletion never used c.3746del p.GLy1249fs Pathogenic Originaly reported as 3745_3746delg http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 41 Insertion 3959_3960insGGCA c.3754_3757dup p.Asn1253fs Pathogenic Alport Syndrome truncated protein http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 41 Missense 3965G>A c.3763G>A p.Gly1255Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 41 Missense 3984G>A c.3782G>A p.Gly1261Glu Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 41-51 Large Deletion never used c.3605-?_5058+?del p.? Pathogenic Alport syndrome ~450kb deleted, no C-term http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 42 Missense 4010G>A c.3808G>A p.Gly1270Ser Moderate Alport Syndrome late onset (age at ESRD in male 37-39) http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 42 Missense never used c.3809G>A p.Gly1270Asp Pathogenic Alport Syndrome. Proteinuria http://www.aruplab.com/
Exon 42 Deletion 4016delC c.3814delC p.Pro1272fs Pathogenic Alport syndrome. Truncated protein; 1272fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 42 Indel never used c.3837_3845del;
3853_3854insA
p.Gly1279fs Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/21143337
Exon 42 Insertion never used c.3866_3869dup p.? Pathogenic Alport syndrome. Creates frameshift and early termination http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 42 Deletion 4122delT c.3920delT p.Leu1307fs Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 42 Missense never used c.3924G>C p.Gln1308His Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 42-47 Large Deletion never used c.3791-?_4510+?del p.? Pathogenic Alport syndrome. del 15kb at end of protein (3 prime). http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 43 Nonsense never used c.3958A>T p.Lys1320X Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/18350645
Exon 43 Deletion 4194delT c.3992delT p.Phe1331fs Pathogenic Alport syndrome. Truncated protein; 1331fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 43 Missense 4199G>A c.3997G>A p.Gly1333Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 43-45 Large Deletion never used c.3925-?_4198+?del p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307728
Exon 44 Nonsense never used c.4006G>T p.Gly1336X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/19965530
Exon 44 Missense never used c.4024G>A p.Gly1342Arg Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 44 Deletion 4245del6, 4241G>A c.4043del6,4039G>A p.Pro1350_Gly1351del, p.Gly1348Glu Pathogenic Alport syndrome. interrupts continuous Gly-X-Y. Originally reported as DelPG1350-1351/G1348E http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 44 Missense 4271G>A c.4069G>A p.Gly1357Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 45 Deletion 4273delT c.4071delT p.Pro1358fs Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 45 Missense never used c.4078G>C p.Gly1360Arg Pathogenic Alport syndrome. Familly history. Hematuria, proteinurea and hearing loss http://www.aruplab.com/
Exon 45 Deletion 4304_4305delAG c.4102_4103delAG p.Ser1368fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 45 Missense 4338G>T c.4136G>T p.Gly1379Val Pathogenic Alport syndrome. Interrupts continuous Gly-X-Y http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 45 Nonsense never used c.4147C>T p.Gln1383X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.Gly1388fs Pathogenic Alport syndrome. De novo insertion of TCCT, Truncated protein; 1388fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 45 Nonsense never used c.4171G>T p.Gly1391X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 45 Deletion c.4379delC c.4177delC p.Gln1393fs Moderate Alport syndrome. Reported in 2 individuals. Age of ESRD 35 and 42 http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 45 Deletion never used c.4184del p.Pro1395fs Pathogenic Originaly reported as 4183delc http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 45 Insertion 4398_4399insC c.4196dup p.Gly1400fs Pathogenic Alport Syndrome frameshift http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 45 Splice site never used c.4198_4198+1del p.? Pathogenic Deletion donor site Exon 45/Intron 45. In skin biopsy cDNA analysis shows 4198_4198+1del and insertion 71 nt of intron 45 http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 45-51 Large Deletion never used c.4070-?_5058+?del p.? Pathogenic Alport syndrome. del 450kb from end of protein (3 prime). http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 46 Insertion 4416insC c.4214dup p.Gly1406fs Pathogenic Alport syndrome; Ermisch reported this insertion as c.4498insC http://www.ncbi.nlm.nih.gov/pubmed/10955921
Exon 46 Missense 4430C>T c.4228C>T p.Arg1410Cys Pathogenic Alport syndrome. Additional Cys next to NC http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 46 Deletion never used c.4235delG p.Gly1412fs Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 46 Silent 4441C>T c.4239C>T p.= Benign Found in patient with Alport but expected to be a polymorphism http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 46 Indel 4455_4464del
dup4465_4482
c.4253_4262del;
4263_4280dup
p.Gly1420fs Pathogenic Alport Syndrome Protein truncation. Reported as fs in exon 48 http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 46 Missense 4463G>T c.4261G>T p.Gly1421Trp Moderate Alport syndrome. Late onset at ESRD (33 years) http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 46 Missense never used c.4271G>A p.Gly1424Glu Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/21143337
Exon 46 Silent 4477C>T c.4275C>T p.= Benign In benign haplotype: G365G, I444S, L685L, Q1171Q, D1425D. Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Exon 46 Missense never used c.4279G>T p.Gly1427Cys Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 46 Missense 4482G>T c.4280G>T p.Gly1427Val Moderate Alport syndrome. Late onser at ESRD (36 years) http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 46 Missense 4484C>A c.4282C>A p.Leu1428Met Suspected Benign Non-conserved amino acid. Originaly published as 4483C>A http://www.ncbi.nlm.nih.gov/pubmed/8940271
Exon 46-51 Large Deletion never used c.4199-?_5058+?del p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 47 Insertion 4517_4552dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
c.4315_4350dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA
p.Gly1439_Pro1450dup Pathogenic Alport syndrome. chain elongation; dup 12 amino acid from G1439 http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 47 Missense 4526G>C c.4324G>C p.Gly1442Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 47 Deletion never used c.4325_4351 del p. Asp1444_Pro1452del Pathogenic Alport Syndrome. In frame deletion http://www.ncbi.nlm.nih.gov/pubmed/17660027
Exon 47 Missense never used c.4342G>C p.Gly1448Arg Pathogenic Alport syndrome- in 2 famillies http://www.ncbi.nlm.nih.gov/pubmed/25307723
Exon 47 Missense never used c.4343G>T p.Gly1448Val Pathogenic Alport Syndrome. Protenuria. As confirmed by biopsy http://www.aruplab.com/
Exon 47 Insertion 4546_4547insT c.4344dup p.Pro1449fs Pathogenic Alport syndrome. De novo insertion of T. truncated protein; 1449fs http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 47 Deletion never used c.4349delC p.Pro1450fs Pathogenic Alport syndrome; Originally documented as c.4345delC http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 47 Missense 4553G>A c.4351G>A p.Gly1451Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 47 Insertion never used c.4401_4402dup p.Ser1468fs Pathogenic Originaly reported as 4398_4399insCA http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 47 Missense never used c.4427G>T p.Cys1476Phe Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 47 Deletion 4638_4639delGA c.4436_4437delGA p.Gly1479fs Pathogenic Alport Syndrome Protein truncation http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 47 Deletion 4639delA c.4437delA p.Gly1479fs Pathogenic Alport syndrome. Originally documented as fs 1480, stop+68 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 47 Missense never used c.4439C>G p.Thr1480Arg Moderate Alport syndrome. Late onser at ESRD (49 years) http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 47 Nonsense never used c.4444C>T p.Gln1482X Pathogenic Alport syndrome. Renal biopsy and typical EM for Alport http://www.aruplab.com/
Exon 47 Missense 4659G>C c.4457G>C p.Gly1486Ala Moderate Alport syndrome. Late onser at ESRD (49 years) http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 47 Missense 4665C>T c.4463C>T p.Ser1488Phe Pathogenic Alport syndrome mutation in NC1 domain http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 47 Nonsense never used c.4477C>T p.Gln1493X Pathogenic Alport sydrome. hematuria and proteinuriaand hearing loss in a male patient http://www.aruplab.com/
Exon 47 Deletion 4693delAG c.4491_4492del AG p.Arg1497Serfs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 47 Missense 4686C>A c.4493C>A p.Ala1498Asp Moderate Alport syndrome. Late onser at ESRD (37 years). Reported as 4686C>A (instead of 4695 or 4493 after removal of the 202 nt of the 5'UTR) http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 47 Nonsense never used c.4501C>T p.Gln1501X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 47-51 Large Deletion never used c.4298-?_5058+?del p.? Pathogenic Alport syndrome; Originally documented as IVS46_IVS51 (larger than 10 kb) http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 48 Deletion c.4715delA c.4513delA p.Thr1505fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 48 Indel never used c.4514_4529
indelTTTCATCT
p.Thr1505fs Pathogenic Alport Syndrome. Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/15954103
Exon 48 Missense never used c.4532G>A p. Arg1511His Uncertain Alport syndrome. Pathogenecity of mutation not established. (psoradic case). Also reported by Plant 1999 http://www.ncbi.nlm.nih.gov/pubmed/10684360
Exon 48 Missense 4751C>A c.4549C>A p.Pro1517Thr Pathogenic Alport syndrome. Conserved aa of NC http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 48 Nonsense 4765C>A c.4563C>A p.Cys1521X Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 48 Missense 4815G>C c.4613G>C p.Trp1538Ser Moderate Alport syndrome. Late onset at ESRD (33) http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 48 Nonsense 4816G>A c.4614G>A p.Trp1538X Pathogenic Alport syndrome; Protein Truncation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 48 Missense 4877C>G c.4675C>G p.Pro1559Ala Benign Does not associate with disease. Reported as 4777C>G, P1559A originaly. http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 48 Deletion c.4887_4890del4 c.4685del4 p.Ser1562fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 48 Nonsense 4889C>T c.4687C>T p.Arg1563X Pathogenic Alport syndrome; Protein Truncation. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 48 Missense 4890G>A c.4688G>A p.Arg1563Gln Moderate Alport Syndrome. Classified as unknown by Plant 1999. Weakened splice site (5 prime), exon 48 skipped creating frameshift. Described as late onset in Pont-Kingdon et al 2009. http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 49 Splice Site 4891-3del32 c.4689-3del32 p.? Pathogenic Alport Syndrome donor splice site http://www.ncbi.nlm.nih.gov/pubmed/8648925
Exon 49 Missense never used c.4690T>C p.Cys1564Arg Moderate Alport syndrome. Late onset Age at ESRD 33 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 49 Missense 4893G>C c.4691G>C p.Cys1564Ser Moderate Late onset Alport syndrome. Observed in one large kindred in the US. Could account for 40% adult type AS. http://www.ncbi.nlm.nih.gov/pubmed/1672282
Exon 49 Deletion never used c.4695del p.Val1566fs Pathogenic Alport http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 49 Missense 4901T>C c.4699T>C p.Cys1567Arg Pathogenic Alport syndrome. NC1 domain. De novo mutation http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 49 Missense never used c.4700G>C p.CYs1567Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 49 Missense never used c.4702G>A p.Glu1568Gln Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/19965530
Exon 49 Insertion never used c.4749dup p.Pro1584fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033302
Exon 49 Missense never used c.4751C>T p.Pro1584Leu Moderate Alport syndrome. Late onset Age at ESRD 34.5 http://www.ncbi.nlm.nih.gov/pubmed/19919694
Exon 49 Missense 4958T>C c.4756T>C p.Cys1586Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Exon 49 Missense 4959G>T c.4757G>T p.Cys1586Phe Pathogenic Affected Individual http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon 49 Missense 4968G>T c.4766G>T p.Gly1589Val Pathogenic Alport Syndrome. This mutation was labeled as a cryptic splice site activator. http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 49 Missense 4970T>G c.4768T>G p.Trp1590Gly Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/16941480
Exon 49 Deletion never used c.4780_4781delTG p.Trp1594fs Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 49 Nonsense never used c.4782G>A p.Trp1594X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 49 Missense 4989G>A c.4787G>A p.Gly1596Asp Pathogenic Alport syndrome. Conserved aa of NC http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 49 Missense 4992A>G c.4790A>G p.Tyr1597Cys Moderate Alport syndrome . Late onset. Age at ESRD 31 http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 49 Nonsense 4993T>A c.4791T>A p.Tyr1597X Pathogenic Alport syndrome . Truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 49 Deletion never used c.4795_4803+50del59 p.? Pathogenic Renal biopsy indicate possible membrane disease. Familly history. hematuria and proteinuria and hearing loss in a male patient http://www.aruplab.com/
Exon 49 Missense 5005G>A c.4803G>A p.Met1601Ile Pathogenic Alport syndrome. Skips E49 resulting in frameshift http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 49-51 Large Deletion never used c.4689-?_5058+?del p.? Pathogenic Alport syndrome. del 10kb truncated protein http://www.ncbi.nlm.nih.gov/pubmed/9195222
Exon 50 Deletion 5034delG c.4832delG p.Gly1611fs Pathogenic Alport syndrome. truncated protein;1611fs. Initially reported as 5033delG http://www.ncbi.nlm.nih.gov/pubmed/8651296
Exon 50 Missense never used c.4862T>C p.Leu1621Ser Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 50 Missense never used c.4894T>G p.Cys1632Gly Pathogenic Alport syndrome. Reported as Cys1632Ser http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 50 Missense never used c.4896T>G p.Cys1632Trp Suspected Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033304
Exon 50 Missense 5115G>A c.4913G>A p.Cys1638Tyr Moderate Late onset Alport syndrome. No extra renal manifestation http://www.ncbi.nlm.nih.gov/pubmed/17277342
Exon 50 Indel never used c.4925_4933del9ins13 p.Ala1642fs Pathogenic Alport syndrome -renal insufficiency in a male patient http://www.aruplab.com/
Exon 50 Insertion never used c.4942dup p.Trp1648fs Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 50 Missense 5148T>G c.4946T>G p.Leu1649Arg Moderate Adult onset AS 22 kindred in the in the US. 50% adult onset Alport Symdrome in the US http://www.ncbi.nlm.nih.gov/pubmed/8651292
Exon 50 Deletion 5170 delC c.4968delC p.Asp1656fs Pathogenic Alport Syndrome. http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 50 Missense 5178G>A c.4976G>A p.Ser1659Asn Pathogenic Alport Syndrome. Possible effect on intron 50 splicing http://www.ncbi.nlm.nih.gov/pubmed/8940267
Exon 51 Deletion 5196_5203del8 c.4994_5001del8 p.Thr1665fs Pathogenic Protein truncation; Originally Documented as fs 1665, stop+9 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Exon 51 Nonsense never used c.5020C>T p.Arg1674X Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Exon 51 Nonsense 5231C>T c.5029C>T p.Arg1677X Pathogenic Alport syndrome. Truncated protein. Found in several unrelated patients http://www.ncbi.nlm.nih.gov/pubmed/9848783
Exon 51 Missense never used c.5030G>T p.Arg1677Leu Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/21505094
Exon 51 Missense 5234T>C c.5032T>C p.Cys1678Arg Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/12105244
Exon 51 Missense 5236T>G c.5034T>G p.Cys1678Trp Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/10561141
Exon 51 Missense never used c.5036A>C p.Gln1679Pro Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/22921432
Exon 51 Missense 5244G>T c.5042G>T p.Cys1681Phe Pathogenic Affected Individual http://www.ncbi.nlm.nih.gov/pubmed/15780079
Exon12 Missense never used c.665T>G p.Phe222Cys Pathogenic Associated to Glomerulopathy and ESRD (absence of clinical findings associated with Alport Syndrome). Mutation in non collagen interruption. http://www.ncbi.nlm.nih.gov/pubmed/20881942
Intron 01 Splice Site c.283+1G>C c.81+1G>C p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 02 Splice Site 344-1G>A c.142-1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 03 Splice Site 433+1G>A c.231+1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 03 Splice Site c.434-1G>T c.232-1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
intron 04 Splice site never used c.276+5G>T p.Gly78_Arg92 del Pathogenic deletion exon 4 sequence observed on cDNA in skin biopsy http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 04 Splice Site 479-1G>T c.277-1G>T p.? Moderate Alport syndrome. Late onset Age at ESRD: 31 http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 05 Spice site never used c.321+3A>T p.? Pathogenic Alport Syndrome-hematuria and proteinuria reported in 2 familly member http://www.aruplab.com/
Intron 05 Splice Site 524-1G>A c.322-1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 06 Splice Site never used c.384+1G>A p.? Pathogenic Alport Syndrome. Found in female compound heterozygous. Might be adult onset. http://www.ncbi.nlm.nih.gov/pubmed/24337245
Intron 06 Splice site c.384-+ 1873 G>A c.385-719 G>A p.? Pathogenic Alport syndrome. This mutation creates a novel exon in intron 06 (cDNA evidence and cosegregation in family). Originally reported as c.384+1873G>A http://www.ncbi.nlm.nih.gov/pubmed/12436246
Intron 06 Splice Site 587-1G>C c.385-1G>C p.? Pathogenic Alport syndrome. Skips exon 7 http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 07 Splice Site never used c.438+2T>C p.? Pathogenic Alport syndrome- predicted to affect splicing using different software http://www.ncbi.nlm.nih.gov/pubmed/21505094
Intron 07 Splice Site c.640+5G>A c.438+5G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 08 Splice Site never used c.466-17T>G p.? Uncertain In patient with Alport Syndrome.No RNA (cDNA) data. Mutations affecting the less conserved parts of the acceptor splice signal. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 08 Splice Site 668-12G>A c.466-12G>A p.? Pathogenic Alport syndrome. Two type of aberrant mRNA: skipping of the upstream exon 9 and preserving exon 9 but inserting 10 bp of intron 8. http://www.ncbi.nlm.nih.gov/pubmed/15780079
Intron 08 Splice Site 668-2A>G c.466-2A>G p.? Pathogenic Alport syndrome. Skips exon 9 http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 09 Splice Site 746_748+4
delCAAgtaa
c.544_546+4
delCAAgtaa
p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 09 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A p.? Moderate Alport Syndrome; late onset mean age ESRD: 36 years. Originally Documented as 750+1G>A http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 09 Splice Site 748+3insT c.546+3insT p.? Moderate Alport Syndrome; late onset mean age ESRD: 35 years Originally Documented as 750+3insT http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 09 Splice Site c.749-2A>G c.547-2A>G p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 09 Splice Site 749-1G>A c.547-1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 10 Splice Site 811+1G>A c.609+1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 10 Splice Site 811+21T>C c.609+21T>C p.? Benign In benign haplotype with c.2768-11A>G - Does not always segregate with disease http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 10 Splice Site never used c.610-2A>G p.? Pathogenic Alport syndrome. 3' ss inactivated cryptic 3'ss used: deletion nucleotides 610-628 in exon 11; frameshift premature termination http://www.ncbi.nlm.nih.gov/pubmed/17660027
Intron 11 Deletion never used c.646-11_12 del TT p. G216_K229 del Pathogenic Alport syndrome. Weakend polypyrimidine tract; in frame deletion of exon 12 http://www.ncbi.nlm.nih.gov/pubmed/17660027
Intron 11 Splice Site 848-3C>A c.646-3C>A p.? Pathogenic Skips Exon 12 (in frame);documented as 849-3C>A, or c.647-3C>A http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 12 Spice site never used c.687+1G>C p.? Pathogenic Alport Syndrome. Hematuria http://www.aruplab.com/
Intron 12 Splice site never used c.687+2T>C p.Gly216_Lys229del Pathogenic In skin biopsy deletion exon 12 sequence observed on cDNA http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 12 Splice Site 890-3C>G c.688-3C>G p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 13 Splice Site never used c.780+2 T>G p.? Pathogenic Alport syndrome. 5'ss inactivated (exon 13 skipped In frame) http://www.ncbi.nlm.nih.gov/pubmed/17660027
Intron 13 Splice Site 983-1del7 c.781 -1del7 p.? Moderate Alport Syndrome, late onset age at ESRD http://www.ncbi.nlm.nih.gov/pubmed/8648925
Intron 14 Splice Site 1036+1G>A c.834+1G>A p.? Moderate Alport Syndrome; late onset mean age ESRD: 31.5 years http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 14 Splice site never used c.834+5G>A p.Gly261_Pro278del Pathogenic Deletion exon 14 sequences observed on cDNA in skin biopsy http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 15 Splice Site 1093+1G>A c.891+1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 15 Splice Site 1094-2A>G c.892-2A>G p.? Moderate Alport Syndrome. Gross (2002) classified as Adult type. http://www.ncbi.nlm.nih.gov/pubmed/9195222
Intron 15 Splice Site 1094-1G>C c.892-1G>C p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/9195222
Intron 16 Splice Site never used c.937-1G>A p.? Pathogenic Alport syndrome. Mutation in donor splice signal. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 18 Splice Site 1234+3delAAGT c.1032+3_1032+6
delAAGT
p.? Pathogenic Alport Syndrome. Affects 5' splicing site of intron 18 http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 18 Splice Site 1234+5G>T c.1032+5G>T p.? Moderate Alport syndrome. Late onset, age at ESRD=36 yeas. http://www.ncbi.nlm.nih.gov/pubmed/17396119
Intron 18 Splice Site 1235-15delT c.1033-15delT p.? Benign Found in an affected male with the G295D mutation. Never found in other cases- probably rare polymorphism T10>T9. http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 18 Splice site never used c.1033-2A>T p.? Pathogenic Alport Syndrome- ESRD at 19 in a male patient http://www.aruplab.com/
Intron 19 Splice Site 1367+1G>A c.1165+1G>A p.? Pathogenic Alport syndrome. 5' splice signal http://www.ncbi.nlm.nih.gov/pubmed/8651296
Intron 19 Splice Site 1367+2T>G c.1165+2T>G p.? Pathogenic Alport syndrome. 5' splice signal http://www.ncbi.nlm.nih.gov/pubmed/8651296
Intron 19 Splice site never used c.1166-1G>A p.Ala360fs Pathogenic In skin biopsy, deletion of G at position 1166 in c.DNA. http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 20 Splice site never used c.1339+6C>G p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307725
Intron 20 Splice Site 1542-2A>G c.1340-2A>G p.? Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/9195222
Intron 21 Splice Site 1625+1G>A c.1423+1G>A p.? Moderate Alport syndrome. Late onset ESRD at >35 http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 21 Splice Site 1625+56_1625+57ins c.1423+57dup p.? Pathogenic Alport Syndrome. cDNA analysis shows partial ckipping of exon 22. http://www.ncbi.nlm.nih.gov/pubmed/15780079
Intron 21 Splice Site never used c.1424-20 T>A p.? Moderate Alport syndrome. Late onset Age at ESRD 32-Skip exon 22 in ectopic RT-PCR product (M. Gregory pres. com.) http://www.ncbi.nlm.nih.gov/pubmed/19919694
Intron 21 Splice site never used c.1424-4C>G p.? Suspected Pathogenic Alport Symdrome http://www.aruplab.com/
Intron 21 Splice Site 1626-1G>A c.1424-1G>A p.Gly475_Pro505del Pathogenic Alport Syndrome. RNA analysis revealed r.1626_1718del (del Exon 22) http://www.ncbi.nlm.nih.gov/pubmed/15780079
Intron 22 Splice Site never used c.1517-1G>T p.? Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/19065523
Intron 23 Splice Site 1789+1G>A c.1587+1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 24 Splice Site never used c.1779+1G>A p.? Pathogenic In skin biopsy no data on mRNA changes http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 24 Splice Site c.1981+3G>C c.1779+3G>C p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 24 Splice Site 1982-1G>A c.1780-1G>A p.? Pathogenic Alport Syndrome. Acceptor splice disruption. http://www.ncbi.nlm.nih.gov/pubmed/16941480
Intron 25 Splice Site 2150+1G>A c.1948+1G>A p.? Pathogenic Affected Individual. del Exon 25 http://www.ncbi.nlm.nih.gov/pubmed/15780079
Intron 25 Splice Site never used c.1949-2A>G p.Lys664_Gly669del Pathogenic cDNA analysis shows an in frame deletion of 18 nt in exon 26 (r.1990_2007 del) in skin biopsy. The predicted protein has a deletion of 6 amino acids http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 26 Splice Site 2243+1G>T c.2041+1G>T p.? Pathogenic Alport syndrome. http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 26 Splice Site never used c.2042-18A>G p.? Pathogenic Alport syndrome. Reported in Human Geneits' "novel human pathological mutations". No information on cDNA http://www.ncbi.nlm.nih.gov/pubmed/18846626
Intron 27 Splice site never used c.2146+1G>A p.? Pathogenic Alport syndrome -ESRD at 20 and Hearing loss at 7 in a male sample. http://www.aruplab.com/
Intron 27 Splice Site never used c.2146+3A>C p.? Pathogenic Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 27 Splice Site 2349-3C>G c.2147-3C>G p.? Pathogenic Alport syndrome. Reported only in female with mild phenotype. Reported as c.2439 in Bekheirnia (2010) http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 27 Splice Site never used c.2147-2A>G p.? Pathogenic Alport syndrome. Mutation in donor splice signal. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 28 Splice Site c.2446+1G>T c.2244+1G>T p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 28 Splice Site 2446+2T>C c.2244+2T>G p.? Pathogenic Alport Syndrome. Donor splice disruption http://www.ncbi.nlm.nih.gov/pubmed/16941480
Intron 28 Splice Site 2447-1G>A c.2245-1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 29 Splice Site 2597+2delT c.2395+2delT p.? Pathogenic Alport syndrome. 5' splice signal http://www.ncbi.nlm.nih.gov/pubmed/8651296
Intron 29 Splice site c.2395+2750 A>G c.2395+2750 A>G p.? Pathogenic Alport syndrome. This mutation creates a novel acceptor site in intron 29 that is used for splicing of a novel exon (cDNA evidence).Wrong reference link in HGMD http://www.ncbi.nlm.nih.gov/pubmed/12436246
Intron 29 Slpice site never used c.2396-1G>A p.? Pathogenic Alport syndrome. Found in female mosaic http://www.ncbi.nlm.nih.gov/pubmed/23732293
Intron 30 Splice Site 2712-33A>G c.2510-33A>G p.? Moderate Mild AS. No changes evident by mRNA study classified as polymorphism in Barker 2001. http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 30 Splice site never used c.2510-1_2525del p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/25307725
Intron 31 Splice site never used c.2678-10 T>G p.Gly893_Gly923 del Pathogenic Alport syndrome. This mutation affect efficiency of the acceptor splicing site resulting in skipping of exon 32 (cDNA data) http://www.ncbi.nlm.nih.gov/pubmed/12436246
Intron 32 Splice site never used c.2767+2delT p.? Pathogenic Alport syndrome. 5'ss inactivated, exon 32 skipped (in frame) http://www.ncbi.nlm.nih.gov/pubmed/17660027
Intron 32 Splice Site 2970-11A>G c.2768-11A>G p.? Benign In benign haplotype with c.609+21T>C - Does not always segregate with disease. http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 33 Splice Site c.3119+1G>T c.2917+1G>T p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 33 Splice Site 3120-1G>T c.2918-1G>T p.? Moderate Alport Syndrome; late onset mean age ESRD: 30.5 years http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 34 Splice Site 3218+1G>T c.3016+1G>T p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 34 Splice site never used c.3016+2dupT p? Suspected Pathogenic Alport Syndrome - hematuria and proteinuria- http://www.aruplab.com/
Intron 34 Splice Site never used c.3017-4A>G p.? Pathogenic Alport Syndrome. Prediction to affect splicing is weak. Need cDNA confirmation http://www.ncbi.nlm.nih.gov/pubmed/21505094
Intron 34 Splice Site 3219-1G>A c.3017-1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 35 Splice Site never used c.3106+4delA;
3106+6_17del
TGATGAAAATCT
p.? Pathogenic Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 35 Splice Site 3309-2A>G c.3107-2A>G p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 36 Splice Site never used c.3246+1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033300
Intron 37 Splice Site c.3575+1G>A c.3373+1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 37 Splice Site 3576-11C>A c.3374-11C>A p.? Pathogenic Found in an Alport syndrome patient. Coorelates with disease. No RNA data. http://www.ncbi.nlm.nih.gov/pubmed/10862091
Intron 38 Splice Site 3656+1G>T c.3454+1G>T p.? Pathogenic Alport Syndrome. Skips exon38; identified in two apparently unrelated families http://www.ncbi.nlm.nih.gov/pubmed/11462238
Intron 38 Splice Site 3657-9A>G c.3455-9A>G p.? Moderate Alport syndrome. Late age on onset (37.3) http://www.ncbi.nlm.nih.gov/pubmed/10862091
Intron 39 Splice Site 3756-9C>G c.3554-9C>G p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 39 Splice Site 3756-3C>G c.3554-3C>G p.? Moderate Alport syndrome. Late onset age at ESRD 33 http://www.ncbi.nlm.nih.gov/pubmed/9848783
Intron 39 Splice Site 3756-1G>A c.3554-1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 40 Splice Site never used c.3604+3T>A p.? Pathogenic Alport syndrome. Mutations affecting the less conserved parts of the acceptor splice signal. http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 40 Splice Site 3807-3A>T c.3605-3A>T p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 40 Splice Site 3807-2A>G c.3605-2A>G p.? Pathogenic Alport Syndrome; hearing loss; AgGCC>tgGCC http://www.ncbi.nlm.nih.gov/pubmed/12105244
Intron 40 Splice Site 3807-1G>A c.3605-1G>A p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 41 Splice Site 3992+1delG c.3790+1delG p.? Pathogenic Alport Syndrome http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 42 Splice Site 4126+1G>C c.3925+1G>C p.? Pathogenic Alport syndrome. Observed in Female. Possible adult type mutation http://www.ncbi.nlm.nih.gov/pubmed/10563487
Intron 42 Splice Site never used c.3925-2A>G p.? Pathogenic Alport syndrome. mutation in donor splice signal http://www.ncbi.nlm.nih.gov/pubmed/15954103
Intron 42 Splice Site 4127-1G>A c.3925-1G>A p.? Pathogenic Alport syndrome. Tazon-Vega (2007) showed that 3' splice signal inactivated and exon 44 skipped (in frame). http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 43 Splice Site 4200-2A>G c.3998-2A>G p.? Pathogenic Alport syndrome. 3 splice signal inactivated, skips exon 44. http://www.ncbi.nlm.nih.gov/pubmed/8651296
Intron 44 Splice Site 4271+1G>A c.4069+1G>A p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 45 Splice Site 4401-1G>A c.4199-1G>A p.? Pathogenic Alport Syndrome. AgGTC>aaGTC http://www.ncbi.nlm.nih.gov/pubmed/12105244
Intron 46 Splice Site 4499+1G>A c.4297+1G>A p.? Pathogenic Affected Individual. del Exon 46 http://www.ncbi.nlm.nih.gov/pubmed/15780079
Intron 46 Splice Site 4500-1G>C c.4298-1G>C p.? Pathogenic Alport Syndrome. Skipping of exon 47 http://www.ncbi.nlm.nih.gov/pubmed/11223851
Intron 47 Indel ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
ins10-15kb (intron 47);
del ~40 kb 3' to COL4A5
p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/10094548
Intron 47 Splice Site 4712+1G>C c.4510+1G>C p.? Pathogenic Alport Syndrome. Donor splice site http://www.ncbi.nlm.nih.gov/pubmed/8648925
Intron 47 Splice Site never used c.4511-345A>G p.Gly1504fs Pathogenic An insertion at c.4510 was observed in cDNA sequences from skin biopsy.Originaly named g.4712+4709A>G. Reported as c.4510+4709 (HGMD) http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 48 Splice Site never used c.4688+4A>T p.Gly1504fs Pathogenic cDNA from In skin biopsy shows deletion of exon 48 resulting in frameshifting at Gly 1504 http://www.ncbi.nlm.nih.gov/pubmed/22921432
Intron 48 Indel c.4891-30del22insCA c.4689-30_4689-9
delinsCA
p.? Pathogenic Alport syndrome. Originally reported as c.4892-30 instead of 4891-30 http://www.ncbi.nlm.nih.gov/pubmed/20378821
Intron 49 Splice Site 5005+1G>A c.4803+1G>A p.? Moderate Alport Syndrome. Late onset. Mean age at ESRD: 40 http://www.ncbi.nlm.nih.gov/pubmed/8940267
Intron 49 Splice Site 5005+121T>C c.4803+121T>C p.? Pathogenic Alport syndrome. cDNA and protein analysis. Found in same patient as c.4804-151_150insT. Creates retention of intron 49 causing in frame stop codon. Originally described as c4821+121T>C using a cDNA sequence with 18 additional nt (NM_033380) http://www.ncbi.nlm.nih.gov/pubmed/16517570
Intron 49 Splice Site 5006-151_150insT c.4804-151_150insT p.? Pathogenic Alport syndrome. cDNA and protein analysis. Found in same patient as c.4803+121T>C. Creates retention of intron 49 causing in frame stop codon Originally described as c.4822-151_150insT using a cDNA sequence with 18 additional nt (NM_033380) http://www.ncbi.nlm.nih.gov/pubmed/16517570
Intron 49 Splice Site never used c.4804-2A>C p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/24033303
Intron 50 Splice site never used c.4976+3A>G p.? Uncertain Alport syndrome. Observed in Alport Patient. A and G are equally found in position +3 and slpice site prediction failed to predict effect on splicing (note added by database currator) http://www.ncbi.nlm.nih.gov/pubmed/24033305
Intron 50 Splice Site c.5179-2A>G c.4977-2A>G p.? Pathogenic Alport syndrome http://www.ncbi.nlm.nih.gov/pubmed/20378821