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.

630 variants found

Genomic Position Location Mutation Type Original cDNA Report Nucleotide Change Protein Change Classification References Comments
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
107570012 Exon 1-36 Large Deletion never used c.1-?_3246+?del p.? Pathogenic Uliana (2011)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Uliana (2011)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Large Deletion never used c.1-?_81+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1 Missense 203A>G c.1A>G p.Met1Val Pathogenic Lemmink (1997)
107570012 Exon 1-4 Large Deletion never used c.1-?_ 276+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1-18 Large Deletion never used c.1-?_ 1032+?del p.? Pathogenic Hertz (2008)
107570012 Exon 1-18 Large Deletion never used c.1-?_1032+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1-30 Large Deletion never used c.1-?_ 2509+?del p.? Pathogenic Plant (1999)
107570012 Exon 1-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1-32 Large Deletion never used c.1-?_ 2767+?del p.? Pathogenic Lemmink (1997)
107570012 Exon 1-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene		 Pathogenic Barker (2001)
107570012 Exon 1-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene		 Pathogenic Nozu (2008)
107570012 Exon 1-51 Large Deletion never used c.1-?_ 5058+?del Deletion of
entire gene		 Pathogenic Hoischen (2009)
107570013 Exon 1 Deletion 204_205delTG c.2_3delTG p.Met1fs Pathogenic King (2006)
107570024 Exon 1 Nonsense 215G>T c.13G>T p.Gly5X Pathogenic Cruz-Robles (1999)
107570052 Exon 1 Insertion never used c.41_42insTCTT p.Leu14fs Pathogenic Hertz (2008)
107570060 Exon 1 Deletion never used c.49_50delCT p.Leu17fs Pathogenic Ellison (2009)
107570076 Exon 1 Deletion c.267_279del13 c.65_77del p.Gln22fs Pathogenic Bekheirnia (2010)
107570093 Intron 1 Splice Site c.283+1G>C c.81+1G>C p.? Pathogenic Bekheirnia (2010)
107641933 Exon 2-36 Large Duplication never used c.82-27.699_3246
+16.073dup		 p.Ala28_Lys1082dup Pathogenic Arrondel (2004)
107669632 Exon 2-8 Large Deletion never used c.82-?_ 465+?del p.? Pathogenic Martin (1998)
107669632 Exon 2-19 Large Deletion never used c.82-?_ 1165+?del p.? Pathogenic Lemmink (1997)
107669632 Exon 2-36 Large Deletion never used c.82-?_ 3246+?del p.? Pathogenic Lemmink (1997)
107669632 Exon 2-37 Large Deletion never used c.82-?_ 3373+?del p.? Pathogenic King(2006)
107669632 Exon 2-51 Large Deletion never used c82-?_5058+?del p.? Pathogenic Plant (1999)
107669632 Exon 2-51 Large Deletion never used c82-?_5058+?del p.? Pathogenic Plant (1999)
107669632 Exon 2 Large Deletion c.284-?_343+?del c.82-?_141+?del p.? Pathogenic Bekheirnia (2010)
107669637 Exon 2 Nonsense never used c.87C>A p.Cys29X Pathogenic Savige (2008)
107669640 Exon 2 Nonsense 292T>G c.90T>G p.Tyr30X Pathogenic Martin (2000)
107669669 Exon 2 Deletion never used c.119delG p.Cys40fs Pathogenic Tazon-Vega (2007)
107688949 Intron 2 Splice Site 344-1G>A c.142-1G>A p.? Pathogenic Plant (1999)
107688950 Exon 3-37 Large Deletion never used c.142-?_ 3373+?del p.? Pathogenic Barker (2001)
107688950 Exon 3-31 Large Deletion c.344-?_2879+?del c.142-?_2677+?del p.? Pathogenic Bekheirnia (2010)
107688950 Exon 3 Missense never used c.142G>A p.Gly48Arg Moderate Tan (2010)
107688959 Exon 3 Insertion c.353insA355insT c.151_152insA
+156dup		 p.Gly51fs Pathogenic Bekheirnia (2010)
107688959 Exon 3 Large Deletion c.344-?_433+?del c.142-?_231+?del p.? Pathogenic Bekheirnia (2010)
107688969 Exon 3 Missense 363G>A c.161G>A p.Gly54Asp Moderate Turco (1995)
107689040 Intron 3 Splice Site 433+1G>A c.231+1G>A p.? Pathogenic Barker (2001)
107693767 Intron 3 Splice Site 434-1G>T c.232-1G>T p.? Pathogenic Barker (2001)
107693767 Intron 3 Splice Site c.434-1G>T c.232-1G>A p.? Pathogenic Bekheirnia (2010)
107693768 Exon 4/5-26 Large Deletion never used c.232-?_ 2041+?del p.? Pathogenic Lemmink (1997)
107693768 Exon 4-13 Large Deletion never used c.232-?_ 780+?del p.? Pathogenic Lemmink (1997)
107693768 Exon 4-47 Large Deletion never used c.232-?_ 4510+?del p.? Pathogenic Lemmink (1997)
107693786 Exon 4 Deletion 452delG c.250delG p.Gly84fs Pathogenic Plant (1999)
107693817 Intron 4 Splice Site never used c.276+5G>A p.? Pathogenic Nagel (2005)
107698514 Intron 4 Splice Site 479-1G>T c.277-1G>T p.? Moderate Plant (1999)
107698515 Exon 5-10 Large Deletion never used c.277-?_ 609+?del p.? Pathogenic Barker (1990)
107698524 Exon 5 Missense never used c.286G>A p.Gly96Arg Pathogenic Bekheirnia (2010)
107698531 Exon 5 Deletion 495delC c.293delC p.Pro98fs Pathogenic Barker (2001)
107698644 Intron 5 Splice Site 524-1G>A c.322-1G>A p.? Pathogenic Plant (1999)
107698674 Exon 6 Deletion never used c.351_359 del p.Pro118_Gly120del Pathogenic Savige (2008)
107698674 Exon 6 Deletion never used c.351_359del p.Pro118_Gly120del Moderate Tan (2010)
107698691 Exon 6 Deletion never used c.368delG p.Gly123fs Pathogenic Nagel (2005)
107700580 Intron 6 Splice site c.384-+ 1873 G>A c.385-719 G>A p.? Pathogenic King (2002)
107701298 Intron 6 Splice Site 587-1G>C c.385-1G>C p.? Pathogenic Hertz (2001)
107701299 Exon 7 Missense never used c.385G>A p.Gly129Arg Moderate Bekheirnia (2010)
107701300 Exon 7 Missense 588G>A c.386G>A p.Gly129Glu Pathogenic Lemmink (1997)
107701300 Exon 7 Missense 588G>T c.386G>T p.Gly129Val Pathogenic Lemmink (1997)
107701302 Exon 7 Nonsense 590G>T c.388G>T p.Glu130X Pathogenic Plant (1999)
107701344 Exon 7 Missense 632G>A c.430G>A p.Gly144Ser Pathogenic Plant (1999)
107701344 Exon 7 Missense never used c.430G>C p.Gly144Arg Moderate Ma (2011)
107701345 Exon 7 Missense never used c.431G>A p.Gly144Asp Pathogenic Bekheirnia (2010)
107701354 Intron 7 Splice Site never used c.438+2T>C p.? Pathogenic Ma (2011)
107701357 Intron 7 Splice Site c.640+5G>A c.438+5G>A p.? Pathogenic Bekheirnia (2010)
107701698 Exon 8 Deletion 642del G c.440delG p.Gly147fs Pathogenic Inoue (1999)
107701699 Exon 8 Insertion never used c.441_442insC p.Pro148fs Pathogenic Nagel (2005)
107701704 Exon 8 Deletion 648delC c.446delC p.Pro149fs Pathogenic Martin (1998)
107703443 Intron 8 Splice Site never used c.466-17T>G p.? Pathogenic Nagel (2005)
107703448 Intron 8 Splice Site 668-12G>A c.466-12G>A p.? Pathogenic Wang (2005)
107703458 Intron 8 Splice Site 668-2A>G c.466-2A>G p.? Pathogenic Hertz (2001)
107703470 Exon 9 Deletion never used c.476del p.Gly159fs Pathogenic Ma (2011)
107703514 Exon 9 Missense 722G>C c.520G>C p.Gly174Arg Pathogenic Renieri (1996)
107703523 Exon 9 missense 731 G>T c.529 G>T p. Gly177Cys Pathogenic Blasi (2000)
107703523 Exon 9 Missense 731G>C c.529G>C p.Gly177Arg Moderate Renieri (1996)
107703527 Exon 9 Deletion 735delC c.533delC p.Pro178fs Pathogenic Knebelmann (1996)
107703532 Exon 9 Missense never used c.538G>A p.Gly180Arg Pathogenic Bekheirnia (2010)
107703538 Intron 9 Splice Site 746_748+4
delCAAgtaa		 c.544_546+4
delCAAgtaa		 p.? Pathogenic Bekheirnia (2010)
107703541 Intron 9 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A p.? Moderate Knebelmann (1996)
107703543 Intron 9 Splice Site 748+3insT c.546+3insT p.? Moderate Knebelmann (1996)
107705794 Intron 9 Splice Site c.749-2A>G c.547-2A>G p.? Pathogenic Bekheirnia (2010)
107705795 Intron 9 Splice Site 749-1G>A c.547-1G>A p.? Pathogenic Hertz (2001)
107705796 Exon 10 Duplication 749_750insC c.547dup p.Gly183fs Pathogenic Hertz (2001)
107705797 Exon 10 Missense never used c.548G>T p.Gly183Val Pathogenic Nagel (2005)
107705799 Exon 10 Insertion 752_753insC c.550_551insC p.Leu184fs Pathogenic Martin (1998)
107705822 Exon 10 Insertion never used c.573_574insGA p.Gly192fs Pathogenic Ma (2011)
107705823 Exon 10 Missense 776G>A c.574G>A p.Gly192Arg Pathogenic Barker (2001)
107705833 Exon 10 Missense 786G>A c.584G>A p.Gly195Asp Pathogenic Hertz (2001)
107705842 Exon 10 Missense 795G>A c.593G>A p.Gly198Glu Pathogenic Slajpah (2007)
107705851 Exon 10 Missense 804G>T c.602G>T p.Gly201Val Moderate Hertz (2001)
107705859 Intron 10 Splice Site 811+1G>A c.609+1G>A p.? Pathogenic Hertz (2001)
107705879 Intron 10 Splice Site 811+21T>C c.609+21T>C p.? Benign Barker (2001)
107707836 Intron 10 Splice Site 812-2T>A c.610-2T>A p.? Pathogenic Knebelmann (1996)
107707836 Intron 10 Splice Site never used c.610-2A>G p.? Pathogenic Tazon-Vega (2007)
107707838 Exon 11 Deletion 812_830del19 c.610_628del19 p.Gly204fs Pathogenic Inoue (1999)
107707839 Exon 11 Missense 813G>A c.611G>A p.Gly204Asp Pathogenic Gross (2002)
107707839 Exon 11 Missense 813G>T c.611G>T p.Gly204Val Pathogenic Knebelmann (1996)
107707839 Exon 11 Deletion c.813_814delGC c.611_612del p.Gly204fs Pathogenic Bekheirnia (2010)
107707862 Exon 11 Deletion 836delC c.634delC p.Pro212fs Pathogenic Renieri (1996)
107707866 Exon 11 Missense 840G>A c.638G>A p.Gly213Glu Pathogenic King (2006)
107707952 Intron 11 Deletion never used c.646-11_12 del TT p. G216_K229 del Pathogenic Tazon-Vega (2007)
107707961 Intron 11 Splice Site 848-3C>A c.646-3C>A p.? Pathogenic Plant (1999)
107707964 Exon 12 Missense 848G>A c.646G>A p.Gly216Arg Pathogenic Martin (2000)
107707965 Exon 12 Missense never used c.647G>T p.Gly216Val Pathogenic Tazon-Vega (2007)
107707965 Exon 12 Duplication never used c.647_648dup p.Asn217fs Pathogenic Nagel (2005)
107707966 Exon 12 Duplication never used c.648dup p.Asn217fs Pathogenic Nagel (2005)
107707973 Exon 12 Missense 857G>A c.655G>A p.Gly219Ser Pathogenic Renieri (1996)
107707983 Exon12 Missense never used c.665T>G p.Phe222Cys Pathogenic Becknell (2011)
107708000 Exon 12 Nonsense never used c.682G>T p.Glu228X Pathogenic Demosthenous (2011)
107708006 Intron 12 Splice Site 889+1G>A c.687+1G>A p.? Moderate Lemmink (1997)
107708174 Intron 12 Splice Site 890-3C>G c.688-3C>G p.? Pathogenic Knebelmann (1996)
107708177 Exon 13 Missense 890G>C c.688G>C p.Gly230Arg Pathogenic Knebelmann (1996)
107708178 Exon 13 Deletion 891delG c.689delG p.Gly230fs Pathogenic Knebelmann (1996)
107708178 Exon 13 Missense never used c.689G>A p.Gly230Asp Pathogenic Bekheirnia (2010)
107708205 Exon 13 Missense 918G>A c.716G>A p.Gly239Glu Pathogenic Knebelmann (1996)
107708250 Exon 13 Deletion 963_964delAG c.761_762delAG p.Glu254fs Pathogenic Kawai (1996)
107708271 Intron 13 Splice Site never used c.780+2 T>G p.? Pathogenic Tazon-Vega (2007)
107710418 Intron 13 Splice Site 983-1del7 c.781 -1del7 p.? Moderate Kawai (1996)
107710419 Exon 14-51 Large Deletion never used c.781-?_ 5058+?del p.? Pathogenic Lemmink (1997)
107710419 Exon 14-21 Large Deletion never used c.781-?_1423+?del p.? Pathogenic Bekheirnia (2010)
107710426 Exon 14 Deletion never used c.788delC p.Pro263fs Pathogenic Ma (2011)
107710428 Exon 14 Missense 992G>C c.790G>C p.Gly264Arg Moderate Knebelmann (1996)
107710429 Exon 14 Missense never used c.791G>A p.Gly264Asp Pathogenic Nagel (2005)
107710434 Exon 14 Nonsense 998C>T c.796C>T p.Arg266X Pathogenic Wang (2005)
107710450 Exon 14 Deletion 1014delC c.812delC p.Pro271fs Pathogenic Gross (2002)
107710473 Intron 14 Splice Site 1036+1G>A c.834+1G>A p.? Moderate Knebelmann (1996)
107710477 Intron 14 Splice Site 1036+5G>T c.834+5G>T p.? Pathogenic Wang (2005)
107710592 Exon 15 Nonsense 1061G>T c.859 G>T pGlu287X Pathogenic Lemmink (1997)
107710599 Exon 15 Nonsense 1068G>T c.866 G>T pGlu289Val Pathogenic Lemmink (1997)
107710599 Exon 15 Deletion c.1068delC c.866delG p.Gly289fs Pathogenic Bekheirnia (2010)
107710606 Exon 15 Deletion c.1075delA c.873delA p.Gly292fs Pathogenic Bekheirnia (2010)
107710607 Exon 15 Missense 1076G>C c.874G>C p.Gly292Arg Moderate Barker (2001)
107710608 Exon 15 Missense 1077G>T c.875G>T p.Gly292Val Pathogenic Lemmink (1997)
107710608 Exon 15 Deletion c.1077delG c.875delG p.Gly292fs Pathogenic Bekheirnia (2010)
107710617 Exon 15 Missense 1086G>A c.884G>A p.Gly295Asp Moderate Barker (2001)
107710625 Intron 15 Splice Site 1093+1G>A c.891+1G>A p.? Pathogenic Knebelmann (1996)
107710867 Intron 15 Splice Site 1094-2A>G c.892-2A>G p.? Moderate Lemmink (1997)
107710868 Intron 15 Splice Site 1094-1G>C c.892-1G>C p.? Pathogenic Lemmink (1997)
107710869 Exon 16 Missense 1094G>A c.892G>A p.Gly298Ser Pathogenic Knebelmann (1996)
107710890 Exon 16 Nonsense 1115G>T c.913G>T p.Glu305X Pathogenic Plant (1999)
107710897 Exon 16 Missense 1122G>A c.920G>A p.Gly307Asp Moderate Gross (2002)
107710905 Exon 16 Missense 1130G>A c.928G>A p.Gly310Arg Pathogenic Slajpah (2007)
107712769 Intron 16 Splice Site never used c.937-1G>A p.? Pathogenic Nagel (2005)
107712770 Exon 17 Large Deletion never used c.937-?_990+?del p.? Pathogenic Lemmink (1997)
107712770 Exon 17 Missense 1139G>A c.937G>A p.Gly313Ser Pathogenic King (2006)
107712778 Exon 17 Insertion 1147_1148insT c.945_946insT p.Gly316fs Pathogenic Martin (1998)
107712788 Exon 17 Missense never used c.955G>C p.Gly319Arg Pathogenic Cheong (2000)
107712789 Exon 17 Missense 1158G>A c.956G>A p.Gly319Asp Pathogenic Slajpah (2007)
107712793 Exon 17 Nonsense never used c.960C>A p.Tyr320X Pathogenic Bekheirnia (2010)
107712803 Exon 17 Silent 1172C>T c.970C>T p.= Benign Plant (1999)
107712806 Exon 17 Missense 1175G>A c.973G>A p.Gly325Arg Moderate Barker (2001)
107712806 Exon 17 Nonsense 1175G>T c.973G>T p.Gly325X Pathogenic Kawai (1996)
107712807 Exon 17 Missense 1176G>A c.974G>A p.Gly325Glu Pathogenic Renieri (1996)
107714371 Exon 18 Missense 1194G>T c.992G>T p.Gly331Val Pathogenic Plant (1999)
107714372 Exon 18 Missense never used c.1001G>T p.Gly334Val Pathogenic Hertz (2008)
107714414 Intron 18 Splice Site 1234+3delAAGT c.1032+3_1032+6
delAAGT		 p.? Pathogenic Knebelmann (1996)
107714416 Intron 18 Splice Site 1234+5G>T c.1032+5G>T p.? Moderate Slajpah (2007)
107716486 Intron 18 Splice Site 1235-15delT c.1033-15delT p.? Benign Barker (2001)
107716501 Exon 19-22 Large Deletion never used c.1033-?_1516+?del p.? Pathogenic Lemmink (1997)
107716528 Exon 19 Insertion c.1262_1263insA c.1060dup p.Thr354fs Pathogenic Bekheirnia (2010)
107716530 Exon 19 Insertion 1264_1265insT c.1062dup p.Ile355fs Pathogenic Barker (2001)
107716542 Exon 19 Deletion 1276delA c.1074delA p.Lys358fs Pathogenic Kawai (1996)
107716552 Exon 19 Missense never used c.1084G>A p.Gly362Arg Pathogenic Bekheirnia (2010)
107716562 Exon 19 Missense 1296G>A c.1094G>A p.Gly365Glu Pathogenic Lemmink (1997)
107716563 Exon 19 Silent 1297G>C c.1095G>C p.= Benign Barker (2001)
107716580 Exon 19 Missense 1314G>A c.1112G>A p.Gly371Glu Pathogenic Renieri (1996)
107716585 Exon 19 Nonsense 1319C>T c.1117C>T p.Arg373X Pathogenic Renieri (1996)
107716589 Exon 19 Missense 1323G>C c.1121G>C p.Gly374Ala Pathogenic Renieri (1996)
107716603 Exon 19 Nonsense never used c.1135C>T p.Gln379X Pathogenic Tug (2011)
107716607 Exon 19 Missense never used c.1139G>A p.Gly380Asp Pathogenic Tazon-Vega (2007)
107716616 Exon 19 Missense 1350G>A c.1148G>A p.Gly383Asp Pathogenic Kawai (1996)
107716634 Intron 19 Splice Site 1367+1G>A c.1165+1G>A p.? Pathogenic Renieri (1996)
107716635 Intron 19 Splice Site 1367+2T>G c.1165+2T>G p.? Pathogenic Renieri (1996)
107720944 Exon 20-21 Large Deletion never used c.1166-?_1423+?del p.? Pathogenic Lemmink (1997)
107720944 Exon 20-22 Large Deletion never used c.1166-?_1516+?del p.? Pathogenic Hertz (2008)
107720944 Exon 20-26 Large Deletion never used c.1166-?_2041+?del p.? Pathogenic Lemmink (1997)
107720959 Exon 20 Deletion c.1383delG c.1181del p.Glu394fs Pathogenic Bekheirnia (2010)
107720969 Exon 20 Silent 1393C>G c.1191C>G p.= Benign Wang (2005)
107720977 Exon 20 Missense 1401G>A c.1199G>A p.Gly400Glu Moderate Plant (1999)
107720986 Exon 20 Missense 1410G>T c.1208G>T p.Gly403Val Pathogenic Wang (2005)
107720991 Exon 20 Duplication never used c.1213dup p.Arg405fs Pathogenic Tan (2010)
107720992 Exon 20 Insertion 1416_1417insA c.1214_1215insA p.Arg405fs Pathogenic Knebelmann (1996)
107720994 Exon 20 Missense 1418G>A c.1216G>A p.Gly406Ser Pathogenic Rotondi (2012)
107720995 Exon 20 Insertion 1419_1420
insGGGG		 c.1217ins_1218
GGGG		 p.Gly406fs Pathogenic Renieri (1996)
107720995 Exon 20 Missense 1419G>T c.1217G>T p.Gly406Val Moderate Renieri (1996)
107720998 Exon 20 Nonsense 1422C>T c.1220C>T p.Gln407X Pathogenic Hertz (2001)
107721000 Exon 20 Nonsense never used c.1222A>T p.Lys408X Pathogenic Bekheirnia (2010)
107721004 Exon 20 Missense 1428G>A c.1226G>A p.Gly409Asp Pathogenic Renieri (1996)
107721013 Exon 20 Missense 1437G>T c.1235G>T p.Gly412Val Moderate Knebelmann (1996)
107721021 Exon 20 Missense 1445G>A c.1243G>A p.Gly415Arg Pathogenic Martin (2000)
107721036 Exon 20 Deletion never used c.1254delT p.Pro419fs Pathogenic Nagel (2005)
107721037 Exon 20 Missense 1461G>A c.1259G>A p.Gly420Glu Pathogenic Knebelmann (1996)
107721037 Exon 20 Missense 1461G>T c.1259G>A p.Gly420Val Pathogenic Martin (1998)
107721043 Exon 20 Deletion 1467delC c.1265delC p.Pro422fs Pathogenic Knebelmann (1996)
107721046 Exon 20 Missense 1470G>A c.1268G>A p.Gly423Glu Pathogenic Knebelmann (1996)
107721054 Exon 20 Missense never used c.1276G>A p.Gly426Arg Pathogenic Nagel (2005)
107721058 Exon 20 Insertion 1482_1483insA c.1280_1281insA p.Gln427fs Pathogenic Renieri (1996)
107721064 Exon 20 Missense never used c.1286G>A p.Gly429Glu Pathogenic Tazon-Vega (2007)
107721066 Exon 20 Duplication 1486_1487insG c.1288_1289dupG. p.Ala430fs Pathogenic Wang (2005)
107721072 Exon 20 Missense never used c.1294G>A p.Gly432Arg Pathogenic Bekheirnia (2010)
107721109 Exon 20 Missense 1533T>G c.1331T>G p.Ile444Ser Benign Wang (2005)
107721445 Intron 20 Splice Site 1542-2A>G c.1340-2A>G p.? Pathogenic Lemmink (1997)
107721455 Exon 21 Deletion 1552_1554delAT c.1350_1351delAT p.Ile450fs Pathogenic Plant (1999)
107721472 Exon 21 Deletion 1567del9 c.1365del9 p.Pro456_Pro458del Pathogenic Renieri (1996)
107721473 Exon 21 Deletion 1568_1576del c.1366_1374del p.Pro456_Pro458del Moderate Martin (1998)
107721478 Exon 21 Deletion 1573-1581del c.1371_1379del p.Pro458_Gly460del Pathogenic Hertz (2001)
107721483 Exon 21 Deletion 1578delC c.1376delC p.Pro459fs Pathogenic Knebelmann (1996)
107721483 Exon 21 Insertion c.1578insC c.1376dup p.Gly460fs Pathogenic Bekheirnia (2010)
107721504 Exon 21 Missense 1599G>A c.1397G>A p.Gly466Glu Pathogenic Kawai (1996)
107721513 Exon 21 Missense never used c.1406G>A p.Gly469Glu Pathogenic Nagel (2005)
107721521 Exon 21 Missense 1616G>A c.1414G>A p.Gly472Arg Pathogenic Plant (1999)
107721530 Exon 21 Missense never used c.1423G>A p.Gly475Ser Pathogenic Bekheirnia (2010)
107721531 Intron 21 Splice Site 1625+1G>A c.1423+1G>A p.? Moderate Martin (1998)
107721586 Intron 21 Splice Site 1625+56_1625+57ins c.1423+56_1423+57ins p.? Pathogenic Wang (2005)
107725375 Intron 21 Splice Site never used c.1424-20 T>A p.? Moderate Pont-Kingdon (2009)
107725394 Intron 21 Splice Site 1626-1G>A c.1424-1G>A p.Gly475_Pro505del Pathogenic Wang (2005)
107725395 Exon 22-28; 38-51 Large Deletion never used c.1424-?_ 2244+?del;
3374-?_5058+?del		 p.? Pathogenic Lemmink (1997)
107725443 Exon 22 Missense 1674G>A c.1472G>A p.Gly491Glu Pathogenic Knebelmann (1996)
107725452 Exon 22 Missense 1683G>A c.1481G>A p.Gly494Asp Pathogenic Renieri (1996)
107725454 Exon 22 Deletion 1685del36 c.1483del36 p.Gln495_Gly506del Pathogenic Renieri (1996)
107725460 Exon 22 Missense 1691G>T c.1489G>T p.Gly497Cys Moderate Knebelmann (1996)
107725469 Exon 22 Missense never used c.1498G>C p.Gly500Arg Moderate Tan (2010)
107725488 Intron 22 Splice Site never used c.1516+1G>A p.? Pathogenic Nagel (2005)
107725488 Intron 22 Splice Site never used c.1517-1G>T p.? Pathogenic Tang (2008)
107726909 Exon 23 Deletion 1744_1745delAG c.1542_1543delAG p.Lys514fs Moderate Plant (1999)
107726928 Exon 23 Missense 1763G>T c.1561G>T p.Gly521Cys Pathogenic Hertz (2001)
107726929 Exon 23 Missense 1764G>A c.1562G>A p.Gly521Asp Pathogenic King (2006)
107726933 Exon 23 Deletion 1768delA c.1566delA p.Ala522fs Pathogenic Renieri (1996)
107726938 Exon 23 Missense 1773G>A c.1571G>A p.Gly524Asp Moderate Knebelmann (1996)
107726948 Exon 23 Deletion 1783_1798del16 c.1581_1596del16 p.Leu528Glufs Pathogenic Plant (1999)
107726955 Intron 23 Splice Site 1789+1delG c.1587+1delG p.? Pathogenic Knebelmann (1996)
107726955 Intron 23 Splice Site 1789+1G>A c.1587+1G>A p.? Pathogenic Martin (1998)
107727264 Exon 24 Missense never used c.1589G>A p.Gly530Asp Pathogenic Zhang (2011)
107727273 Exon 24 Missense never used c.1598G>A p.Gly533Glu Moderate Pont-Kingdon (2009)
107727282 Exon 24 Missense never used c.1607G>A p.Gly536Asp Pathogenic Tazon-Vega (2007)
107727308 Exon 24 Missense 1835G>C c.1633G>C p.Gly545Arg Pathogenic Plant (1999)
107727309 Exon 24 Missense 1836G>T c.1634G>T p.Gly545Val Pathogenic Plant (1999)
107727318 Exon 24 Missense never used c.1643G>A p.Gly548Asp Moderate Pont-Kingdon (2009)
107727328 Exon 24 Deletion 1855delC c.1653delC p.Leu550fs Pathogenic Wang (2005)
107727347 Exon 24 Missense 1874G>C c.1672G>C p.Gly558Arg Pathogenic Barker (2001)
107727356 Exon 24 Missense 1883G>A c.1681G>A p.Gly561Arg Pathogenic Plant (1999)
107727365 Exon 24 Missense never used c.1690G>T p.Gly564Cys Pathogenic Tan (2010)
107727375 Exon 24 Missense 1902G>C c.1700G>C p.Gly567Ala Pathogenic Renieri (1996)
107727393 Exon 24 Missense 1920G>A c.1718G>A p.Gly573Asp Pathogenic Hertz (2001)
107727401 Exon 24 Missense never used c.1726G>A p.Gly576Ser Moderate Bekheirnia (2010)
107727410 Exon 24 Missense 1937G>A c.1735G>A p.Gly579Arg Pathogenic Plant (1999)
107727411 Exon 24 Missense 1937G>A c.1736G>A p.Gly579Gln Pathogenic Inoue (1999)
107727413 Exon 24 Nonsense never used c.1738C>T p.Gln580X Pathogenic Bekheirnia (2010)
107727414 Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)		 c.1739_1948+98del p.Gln580_Gly650del Pathogenic Plant (1999)
107727419 Exon 24 Missense never used c.1744G>A p.Gly582Arg Pathogenic Ma (2011)
107727432 Exon 24 Deletion c.1959_1972del14 c.1757_1770del p.Leu586fs Pathogenic Bekheirnia (2010)
107727455 Intron 24 Splice Site 1981+1G>T c.1779+1G>T p.? Pathogenic Renieri (1996)
107727457 Intron 24 Splice Site c.1981+3G>C c.1779+3G>C p.? Pathogenic Bekheirnia (2010)
107728587 Intron 24 Splice Site 1982-1G>A c.1780-1G>A p.? Pathogenic King (2006)
107728588 Exon 25 Missense 1982G>A c.1780G>A p.Gly594Ser Moderate Hertz (2001)
107728591 Exon 25 Missense 1985G>A c.1783G>A p.Gly595Arg Moderate Hertz (2001)
107728616 Exon 25 Missense 2010G>T c.1808G>T p.Gly603Val Pathogenic Barker (2001)
107728633 Exon 25 Missense 2027G>C c.1825G>C p.Gly609Arg Pathogenic Knebelmann (1996)
107728634 Exon 25 Missense 2028G>T c.1826G>T p.Gly609Val Pathogenic Lemmink (1997)
107728643 Exon 25 Missense never used c.1835G>A p.Gly612Asp Pathogenic Ma (2011)
107728664 Exon 25 Missense/Splice Site never used c.1856C>T p.Pro619Leu Moderate Tazon-Vega (2007)
107728669 Exon 25 Missense 2063G>T c.1861G>T p.Gly621Cys Pathogenic Knebelmann (1996)
107728679 Exon 25 Missense 2073G>A c.1871G>A p.Gly624Asp Moderate Slajpah (2007)
107728685 Exon 25 Missense 2079G>C c.1877G>C p.Gly626Ala Moderate Hertz (2001)
107728691 Exon 25 Missense never used c.1883C>T p.Proy628Leu Moderate Demosthenous (2011)
107728694 Exon 25 Missense 2088G>A c.1886G>A p.Gly629Asp Pathogenic Barker (2001)
107728703 Exon 25 Missense 2097G>A c.1895G>A p.Gly632Asp Pathogenic Knebelmann (1996)
107728705 Exon 25 Missense 2099G>A c.1897G>A p.Glu633Lys Moderate Inoue (1999)
107728712 Exon 25 Missense 2106G>A c.1904G>A p.Gly635Asp Pathogenic Martin (1998)
107728720 Exon 25 Missense 2114G>A c.1912G>A p.Gly638Ser Pathogenic Plant (1999)
107728721 Exon 25 Missense 2115G>C c.1913G>C p.Gly638Ala Pathogenic Plant (1999)
107728721 Exon 25 Missense 2115G>T c.1913G>T p.Gly638Val Pathogenic Plant (1999)
107728756 Intron 25 Splice Site 2150+1G>A c.1948+1G>A p.? Pathogenic Wang (2005)
107731279 Exon 26-29 Large Deletion never used c1949-?_2395+?del p.? Pathogenic Plant (1999)
107731279 Exon 26-37 Large Deletion never used c.1949-?_ 3373+?del p.? Pathogenic Hertz (2008)
107731287 Exon 26 Missense 2159G>A c.1957G>A p.Gly653Arg Pathogenic Plant (1999)
107731290 Exon 26 Deletion 2162delG c.1960delG p.Asp654fs Pathogenic Knebelmann (1996)
107731327 Exon 26 Missense 2194G>T c.1992G>T p.Lys664Asn Benign Slajpah (2007)
107731327 Exon 26 Missense 2199G>A c.1997G>A p.Gly666Asp Pathogenic Slajpah (2007)
107731335 Exon 26 Missense 2207G>C c.2005A>G p.Gly669Arg Pathogenic Wang (2005)
107731336 Exon 26 Missense 2208G>C c.2006G>C p.Gly669Ala Pathogenic Plant (1999)
107731344 Exon 26 Missense never used c.2014G>C p.Gly672Ser Pathogenic Ma (2011)
107731348 Exon 26 Deletion 2220delG c.2018delG p.Arg673fs Pathogenic Renieri (1996)
107731353 Exon 26 Missense never used c.2023G>A p.Gly675Ser Pathogenic Nagel (2005)
107731372 Intron 26 Splice Site 2243+1G>T c.2041+1G>T p.? Pathogenic Martin (1998)
107731753 Intron 26 Splice Site never used c.2042-18A>G p.? Pathogenic Savige (2008)
107731771 Exon 27 Missense 2244G>A c.2042G>A p.Gly681Asp Pathogenic Knebelmann (1996)
107731779 Exon 27 Nonsense 2252G>T c.2050G>T p.Gly684X Pathogenic Plant (1999)
107731780 Exon 27 Missense 2253G>T c.2051G>T p.Gly684Val Moderate Kawai (1996)
107731784 Exon 27 Silent 2257T>C c.2055T>C p.= Benign Barker (2001)
107731786 Exon 27 Deletion never used c.2057delC p.Pro686fs Pathogenic Tazon-Vega (2007)
107731789 Exon 27 Missense 2262G>A c.2060G>A p.Gly687Glu Pathogenic Plant (1999)
107731791 Exon 27 Duplication never used c.2062_2114dup p.Ile706Asnfs Pathogenic Tazon-Vega (2007)
107731827 Exon 27 Nonsense never used c.2098G>T p.Glu700X Pathogenic Hertz (2008)
107731836 Exon 27 Missense 2309A>G c.2107A>G p.Ile703Val Benign Wang (2005)
107731875 Exon 27 Missense 2348G>C c.2146G>C p.Gly716Arg Pathogenic Kawai (1996)
107731878 Intron 27 Splice Site never used c.2146+3A>C p.? Pathogenic Nagel (2005)
107732847 Intron 27 Splice Site 2349-3C>G c.2147-3C>G p.? Pathogenic Martin (1998)
107732848 Intron 27 Splice Site never used c.2147-2A>G p.? Pathogenic Nagel (2005)
107732850 Exon 28 Deletion 2349delG c.2147delG p.Gly716 fs Pathogenic Martin (1998)
107732850 Exon 28 Deletion 2349delG c.2147delG p.Gly716fs Pathogenic Martin (1998)
107732850 Exon 28-32 Large Duplication never used c.2147-?_ 2767+?dup p.? Pathogenic Lemmink (1997)
107732858 Exon 28 Missense never used c.2155G>C p.Gly719Arg Moderate Pont-Kingdon (2009)
107732867 Exon 28 Missense never used c.2164G>C p.Gly722Arg Pathogenic Ma (2011)
107732868 Exon 28 Missense 2367G>A c.2165G>A p.Gly722Glu Pathogenic Barker (2001)
107732909 Exon 28 Deletion 2408_2428del21 c.2206_2226del21 p.Glu736_Pro742del Pathogenic King (2006)
107732918 Exon 28 Missense never used c.2215C>T p.Pro739Ser Pathogenic Cheong (2000)
107732922 Exon 28 Missense 2421G>A c.2219G>A p.Gly740Glu Pathogenic Kawai (1996)
107732931 Exon 28 Missense 2430G>A c.2228G>A p.Gly743Asp Pathogenic Plant (1999)
107732948 Intron 28 Splice Site c.2446+1G>T c.2244+1G>T p.? Pathogenic Bekheirnia (2010)
107732949 Intron 28 Splice Site 2446+2T>C c.2244+2T>G p.? Pathogenic King (2006)
107736627 Intron 28 Splice Site 2447-1G>A c.2245-1G>A p.? Pathogenic Martin (1998)
107736670 Exon 29 Missense never used c.2287G>A p.Gly763Arg Pathogenic Nagel (2005)
107736671 Exon 29 Missense never used c.2288G>A p.Gly763Glu Moderate Pont-Kingdon (2009)
107736680 Exon 29 Missense 2499G>A c.2297G>A p.Gly766Asp Moderate Hertz (2001)
107736688 Exon 29 Missense never used c.2305G>A p.Gly769Arg Pathogenic Bekheirnia (2010)
107736698 Exon 29 Missense 2517G>A c.2315G>A p.Gly772Asp Pathogenic Kawai (1996)
107736698 Exon 29 Missense never used c.2315G>C p.Gly772Ala Pathogenic Bekheirnia (2010)
107736701 Exon 29 Insertion 2524_2525insA c.2322_2123insA p.Gly775fs Pathogenic Hertz (2001)
107736715 Exon 29 Missense 2534G>A c.2332G>A p.Gly776Ser Moderate Plant (1999)
107736731 Exon 29 Deletion 2550delC c.2348delC p.Pro783fs Pathogenic Martin (1998)
107736732 Exon 29 Silent 2551G>A c.2349G>A p.= Benign Barker (2001)
107736743 Exon 29 Missense 2562G>T c.2360G>T p.Gly787Val Pathogenic King (2006)
107736769 Exon 29 Missense 2588G>A c.2386G>A p.Gly796Arg Pathogenic Plant (1999)
107736777 Exon 29 Splice Site c.2596A>G c.2394A>G p.? Pathogenic Bekheirnia (2010)
107736780 Intron 29 Splice Site 2597+2delT c.2395+2delT p.? Pathogenic Renieri (1996)
107739528 Intron 29 Splice site c.2395+2750 A>C c.2395+2733 A>C p.? Pathogenic King (2002)
107744805 Exon 30 Deletion 2606-2623del c.2404-2421del18 p.Gly802_Pro807del Pathogenic Hertz (2001)
107744805 Exon 30 Missense 2606G>A c.2404G>A p.Gly802Arg Pathogenic Knebelmann (1996)
107744824 Exon 30 Missense 2625G>A c.2423G>A p.Gly808Glu Moderate Plant (1999)
107744832 Exon 30 Missense 2633G>A c.2431G>A p.Gly811Arg Pathogenic Slajpah (2007)
107744833 Exon 30 Missense 2634G>T c.2432G>T p.Gly811Val Pathogenic Knebelmann (1996)
107744835 Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30		 c.2434delCCTCCTGG
insAACCTGGACCAA
TGGGACCAATGGGA
ACAC;2636del8ins30		 p.Pro812fs Pathogenic Martin (1998)
107744853 Exon 30 Indel 2654_2656delATA/
2653_2654insT		 c.2452_2454delATA/
2451_2452insT		 p.Ile818fs Pathogenic Hertz (2001)
107744865 Exon 30 Deletion 2666_2674del9 c.2464_2472del9 p.Gly822_Pro824del Pathogenic Plant (1999)
107744865 Exon 30 Missense 2666G>C c.2464G>C p.Gly822Arg Moderate Cruz-Robles (1999)
107744866 Exon 30 Missense c.2465G>C p.Gly822Val Pathogenic Jovanovic (2013)
107744874 Exon 30 Nonsense never used c.2473G>T p.Gly825X Pathogenic Tan (2010)
107744876 Exon 30 Deletion c.2677_2685del9 c.2475_2483
delACCACCAGG		 p.Pro826_Gly828del Pathogenic Bekheirnia (2010)
107744877 Exon 30 Deletion never used c.2476delC p.Pro826fs Moderate Pont-Kingdon (2009)
107744884 Exon 30 Missense never used c.2483G>A p.Gly828Glu Pathogenic Ma (2011)
107744901 Exon 30 Missense never used c.2500G>C p.Gly834Arg Pathogenic Bekheirnia (2010)
107744910 Exon 30 Splice Site never used c.2509G>A p.? Pathogenic Tazon-Vega (2007)
107750112 Intron 30 Splice Site 2712-33A>G c.2510-33A>G p.? Moderate Barker (2001)
107750145 Exon 31 Deletion 2712delG c.2510delG p.Gly837fs Pathogenic King (2006)
107750145 Exon 31-36 Large Deletion never used c2510-?_3246+?del p.? Pathogenic King (2006)
107750145 Exon 31 Large Deletion c.2712-?_2789+?del c.2510-?_2677+?del p.? Pathogenic Bekheirnia (2010)
107750185 Exon 31 Deletion 2752_2775del c.2550_2573del p.Pro851_Pro858del Pathogenic Wang (2005)
107750189 Exon 31 Missense 2756G>A c.2554G>A p.Gly852Arg Pathogenic Kawai (1996)
107750190 Exon 31 Missense 2757G>A c.2555G>A p.Gly852Glu Pathogenic Plant (1999)
107750213 Exon 31 Missense never used c.2578G>C p.Gly860Arg Pathogenic Bekheirnia (2010)
107750222 Exon 31 Indel never used c.2587_2606delins75 p.? Pathogenic Ma (2011)
107750224 Exon 31 Deletion 2791del36 c.2589del36 p.Ser864_Gly875del Pathogenic Martin (2000)
107750230 Exon 31 Deletion 2797-2814del18 c.2595_2612del18 p.Gly866_Pro871del Pathogenic Gross (2002)
107750232 Exon 31 Missense 2799G>A c.2597G>A p.Gly866Glu Moderate Renieri (1996)
107750240 Exon 31 Missense 2807G>A c.2605G>A p.Gly869Arg Moderate Plant (1999)
107750249 Exon 31 Missense 2816G>C c.2614G>C p.Gly872Arg Pathogenic Plant (1999)
107750258 Exon 31 Missense never used c.2623G>C p.Gly875Arg Pathogenic Ma (2011)
107750259 Exon 31 Missense never used c.2624G>A p.Gly875Glu Pathogenic Tazon-Vega (2007)
107750260 Exon 31 Deletion 2827delA c.2625delA p.Gly875fs Pathogenic Plant (1999)
107750268 Exon 31 Missense 2835G>T c.2633G>T p.Gly878Arg Pathogenic Plant (1999)
107750278 Exon 31 Deletion 2845delG c.2643delG p.Leu882fs Pathogenic Barker (2001)
107750294 Exon 31 Missense never used c.2659G>C p.Gly887Arg Pathogenic Bekheirnia (2010)
107750295 Exon 31 Missense never used c.2660G>T p.Gly887Val Pathogenic Nagel (2005)
107751679 Intron 31 Splice site never used c.2678-10 T>G p.Gly893_Gly923 del Pathogenic King (2002)
107751689 Exon 32 Missense never used p.2678G>T p.Gly893Val Pathogenic Bekheirnia (2010)
107751689 Exon 32-36 Large Deletion never used c.2678-?_3246+?del p.? Pathogenic Bekheirnia (2010)
107751698 Exon 32 Deletion c.2888delG c.2686delG p.Gly896fs Pathogenic Bekheirnia (2010)
107751703 Exon 32 Missense 2894A>G c.2692A>G p.Met898Val Moderate Barker (2001)
107751707 Exon 32 Deletion never used c.2696_2705del p .Gly899fs Pathogenic Zhang (2011)
107751707 Exon 32 Missense never used c.2696G>T p .Gly899Val Pathogenic Ma (2011)
107751716 Exon 32 Missense never used c.2705G>A p .Gly902Val Pathogenic Cheong (2000)
107751719 Exon 32 Duplication never used c.2708dup p.Pro904fs Pathogenic Tazon-Vega (2007)
107751733 Exon 32 Missense never used c.2722G>A p.Gly908Arg Pathogenic Tan (2010)
107751742 Exon 32 Missense never used c.2731G>A p.Gly911Arg Pathogenic Bekheirnia (2010)
107751743 Exon 32 Missense never used c.2732G>A p .Gly911Glu Pathogenic Cheong (2000)
107751757 Exon 32 Indel 2948del13insAT c.2746del13insAT p.Ser916fs Pathogenic Plant (1999)
107751757 Exon 32 Missense 2948A>G c.2746A>G p.Ser916Gly Pathogenic Barker (2001)
107751780 Intron 32 Deletion never used c.2767+2delT p.? Pathogenic Tazon-Vega (2007)
107752551 Intron 32 Splice Site 2970-11A>G c.2768-11A>G p.? Benign Barker (2001)
107752576 Exon 33 Nonsense never used c.2782C>T p.Gln928X Moderate Bekheirnia (2010)
107752582 Exon 33 Nonsense 2990C>T c.2788C>T p.Gln930X Pathogenic Wang (2005)
107752596 Exon 33 Insertion 3004_3005insT c.2802_2803insT p.Gly935fs Pathogenic Hertz (2001)
107752598 Exon 33 Missense never used c.2804G>A p.Gly935Asp Pathogenic Nagel (2005)
107752615 Exon 33 Missense 3023G>T c.2821G>T p.Gly941Cys Moderate Hertz (2001)
107752617 Exon 33 Deletion 3025delTAG c.2823_2825delTAG p.Ser942del Pathogenic Renieri (1996)
107752634 Exon 33 Missense 3042 G>A c.2840G>A p.Gly947Asp Pathogenic Inoue (1999)
107752640 Exon 33 Deletion 3048delC c.2846delC p.Pro949fs Pathogenic King (2006)
107752652 Exon 33 Missense 3060G>T c.2858G>T p.Gly953Val Pathogenic Knebelmann (1996)
107752712 Intron 33 Splice Site 3119+1G>C c.2917+1G>C p.? Pathogenic Knebelmann (1996)
107752712 Intron 33 Splice Site c.3119+1G>T c.2917+1G>T p.? Pathogenic Bekheirnia (2010)
107754121 Intron 33 Splice Site 3120-1G>T c.2918-1G>T p.? Moderate Knebelmann (1996)
107754122 Exon 34-51 Large Deletion never used c.2918-?_5058+?del p.? Pathogenic Lemmink (1997)
107754133 Exon 34 Deletion 3131delAG c.2929delAG p.Val977fs Pathogenic Plant (1999)
107754144 Exon 34 Deletion 3142delA c.2940delA p.Pro980fs Pathogenic Renieri (1996)
107754147 Exon 34 Deletion 3145delA c.2943delA p.Lys981fs Pathogenic Peissel (1994)
107754151 Exon 34 Deletion never used c.2947del p.Tyr983fs Pathogenic Demosthenous (2011)
107754163 Exon 34 Deletion 3161_3178del18 c.2959_2976del18 p.Pro987-Gln992del Pathogenic Plant (1999)
107754169 Exon 34 Deletion 3167delG c.2965delG p.Asp989fs Pathogenic Lemmink (1997)
107754203 Exon 34 Missense never used c.2999G>T p.Gly1000Val Benign Kaneko (2010)
107754221 Intron 34 Splice Site 3218+1G>T c.3016+1G>T p.? Pathogenic Barker (2001)
107755586 Intron 34 Splice Site never used c.3017-4A>G p.? Pathogenic Ma (2011)
107755590 Intron 34 Splice Site 3219-1G>A c.3017-1G>A p.? Pathogenic Barker (2001)
107755591 Exon 35 Missense 3219G>T c.3017G>T p.Gly1006Val Moderate Barker (2001)
107755591 Exon 35-36 Large Deletion never used c.3017-?_3246+?del p.? Pathogenic King (2006)
107755618 Exon 35 Missense 3246G>T c.3044G>T p.Gly1015Val Pathogenic Knebelmann (1996)
107755620 Exon 35 Nonsense 3248C>T c.3046C>T p.Gln1016X Pathogenic Knebelmann (1996)
107755620 Exon 35 Deletion never used c.3046delC p.Gln1016fs Pathogenic Ma (2011)
107755631 Exon 35 Deletion 3259delT c.3057delT p.Leu1019fs Pathogenic Knebelmann (1996)
107755654 Exon 35 Missense 3282G>T c.3080G>T p.Gly1027Val Pathogenic Wang (2005)
107755662 Exon 35 Missense 3290G>A c.3088G>A p.Gly1030Ser Moderate Martin (1998)
107755684 Intron 35 Splice Site never used c.3106+4delA;
3106+6_17del
TGATGAAAATCT		 p.? Pathogenic Nagel (2005)
107756094 Intron 35 Splice Site 3309-2A>G c.3107-2A>G p.? Pathogenic Hertz (2001)
107756096 Exon 36 Missense 3309G>T c.3107G>T p.Gly1036Val Pathogenic Knebelmann (1996)
107756104 Exon 36 Missense 3317G>A c.3115G>A p.Gly1039Ser Pathogenic Knebelmann (1996)
107756123 Exon 36 Missense 3336G>A c.3134G>A p.Gly1045Glu Pathogenic Martin (2000)
107756156 Exon 36 Deletion c.3369delC c.3167del C p.Pro1056fs Pathogenic Bekheirnia (2010)
107756158 Exon 36 Nonsense 3371G>T c.3169G>T p.Gly1057X Pathogenic Knebelmann (1996)
107756167 Exon 36 Nonsense 3380G>T c.3178G>T p.Gly1060X Pathogenic Martin (1998)
107756170 Exon 36 Nonsense 3383C>T c.3181C>T p.Gln1061X Pathogenic Plant (1999)
107756177 Exon 36 Missense never used c.3188G>T p.Gly1063Val Pathogenic Nagel (2005)
107756185 Exon 36 Missense 3398G>C c.3196G>C p.Gly1066Arg Pathogenic Knebelmann (1996)
107756185 Exon 36 Missense 3398G>A c.3196G>A p.Gly1066Ser Pathogenic Martin (1998)
107756186 Exon 36 Missense 3399G>C c.3197G>C p.Gly1066Ala Pathogenic Barker (2001)
107756195 Exon 36 Missense never used c.3206G>T p.Gly1069Val Pathogenic Bekheirnia (2010)
107756201 Exon 36 Nonsense 3414C>G c.3212C>G p.Ser1071X Pathogenic Hertz (2001)
107785217 Exon 36 Missense never used c.3247G>A p.Gly1083Ser Pathogenic Nagel (2005)
107785217 Exon 37 Deletion never used c.3247-?_ 3373+?del p.? Pathogenic Tazon-Vega (2007)
107785217 Exon 37-45 Large Deletion never used c3247-?_4198+?del p.? Pathogenic Plant (1999)
107785217 Exon 37-51 Large Deletion never used c.3247-?_ 5058+?del p.? Pathogenic Nozu (2008)
107785217 Exon 37 Large Deletion never used c.3247-?_3373+?del p.? Pathogenic Bekheirnia (2010)
107785225 Exon 37 Silent 3457G>A c.3255T>A p.= Benign Inoue (1999)
107785226 Exon 37 Missense never used c.3256G>C p.Gly1086Arg Moderate Tazon-Vega (2007)
107785227 Exon 37 Missense 3459G>A c.3257G>A p.Gly1086Asp Pathogenic Martin (2000)
107785259 Exon 37 Nonsense 3491A>T c.3289A>T p.Lys1097X Pathogenic Martin (1998)
107785281 Exon 37 Missense 3513G>T c.3311G>T p.Gly1104Val Pathogenic Kawai (1996)
107785289 Exon 37 Missense 3521G>A c.3319G>A p.Gly1107Arg Pathogenic Plant (1999)
107785296 Exon 37 Insertion c.3528insT c.3326_7insT p.Gly1110fs Pathogenic Bekheirnia (2010)
107785301 Exon 37 Deletion 3533delA c.3331delA p.Thr1111fs Pathogenic Renieri (1996)
107785307 Exon 37 Insertion 3539_3540insCCTG c.3337_3338insCCTG p.Gly1113fs Pathogenic Renieri (1996)
107785317 Exon 37 Missense never used c.3347G>T p.Gly1116Val Moderate Bekheirnia (2010)
107785344 Intron 37 Splice Site c.3575+1G>A c.3373+1G>A p.? Pathogenic Bekheirnia (2010)
107795382 Intron 37 Splice Site 3576-11C>A c.3374-11C>A p.? Pathogenic Martin (2000)
107795393 Exon 38-41 Large Deletion never used c.3374-?_3790+?del p.? Pathogenic Plant (1999)
107795393 Exon 38-46 Insertion never used not available p.? Pathogenic Lemmink (1997)
107795393 Exon 38-51 Large Deletion never used c.3374-?_5058+?del p.? Pathogenic Lemmink (1997)
107795393 Exon 38-51 Large Duplication never used c.3374-?_ 5058+?dup p.? Moderate Lemmink (1997)
107795422 Exon 38 Indel c.3605del16ins3 c.3403_3418delins3 p.Ile1135fs Pathogenic Bekheirnia (2010)
107795432 Exon 38 Deletion 3615delC c.3413delC p.Pro1138fs Pathogenic Slajpah (2007)
107795446 Exon 38 Missense 3629G>A c.3427G>A p.Gly1143Ser Moderate Renieri (1996)
107795447 Exon 38 Missense 3630G>A c.3428G>A p.Gly1143Asp Pathogenic Hertz (2001)
107795474 Intron 38 Splice Site 3656+1G>T c.3454+1G>T p.? Pathogenic Hertz (2001)
107796373 Intron 38 Splice Site 3657-9A>G c.3455-9A>G p.? Moderate Martin (2000)
107796399 Exon 39 Missense 3674 1G>T c.3472 1G>T p.Gly1158Arg Pathogenic Inoue (1999)
107796401 Exon 39 Deletion 3676delG c.3474delG p.Gly1158fs Pathogenic Hertz (2001)
107796408 Exon 39 Missense 3683G>A c.3481G>A p.Gly1161Arg Pathogenic Plant (1999)
107796426 Exon 39 Missense 3701G>A c.3499G>A p.Gly1167Ser Moderate Martin (2000)
107796435 Exon 39 Missense 3710G>A c.3508G>A p.Gly1170Ser Moderate Inoue (1999)
107796436 Exon 39 Deletion 3711delG c.3509delG p.Gly1170fs Pathogenic Renieri (1996)
107796440 Exon 39 Silent 3715A>G c.3513A>G p.= Benign Barker (2001)
107796454 Exon 39 Deletion 3729delG c.3527delG p.Gly1176fs Pathogenic Martin (1998)
107796462 Exon 39 Missense never used c.3535G>A p.Gly1179Arg Pathogenic Nagel (2005)
107796465 Exon 39 Nonsense 3740C>T c.3538C>T p.Gln1180X Pathogenic Knebelmann (1996)
107796470 Exon 39 Deletion 3745_3751
delGGGTGAA		 c.3543_3549
delGGGTGAA		 p.Lys1181fs Pathogenic Renieri (1996)
107796471 Exon 39 Missense 3746G>C c.3544G>C p.Gly1182Arg Pathogenic Kawai (1996)
107797010 Intron 39 Splice Site 3756-9C>G c.3554-9C>G p.? Pathogenic Martin (1998)
107797016 Intron 39 Splice Site 3756-3C>G c.3554-3C>G p.? Moderate Martin (1998)
107797018 Intron 39 Splice Site 3756-1G>A c.3554-1G>A p.? Pathogenic Knebelmann (1996)
107797019 Exon 40 Deletion never used c.3554-?_3604+?del p.? Pathogenic Lemmink (1997)
107797050 Exon 40 Silent 3784G>A c.3582C>T p.= Benign Inoue (1999)
107797051 Exon 40 Missense 3788G>A c.3586G>A p.Gly1196Arg Pathogenic Martin (1998)
107797052 Exon 40 Missense never used c.3587G>A p.Gly1196Glu Pathogenic Bekheirnia (2010)
107797072 Intron 40 Splice Site never used c.3604+3T>A p.? Pathogenic Nagel (2005)
107798202 Intron 40 Splice Site 3807-3A>T c.3605-3A>T p.? Pathogenic Knebelmann (1996)
107798203 Intron 40 Splice Site 3807-2A>G c.3605-2A>G p.? Pathogenic Gross (2002)
107798204 Intron 40 Splice Site 3807-1G>A c.3605-1G>A p.? Pathogenic Knebelmann (1996)
107798205 Exon 41-51 Large Deletion never used c.3605-?_5058+?del p.? Pathogenic Plant (1999)
107798213 Exon 41 Missense 3815G>T c.3613G>T p.Gly1205Cys Pathogenic Knebelmann (1996)
107798213 Exon 41 Missense never used c.3613G>A p.Gly1205Ser Pathogenic Bekheirnia (2010)
107798218 Exon 41 Deletion 3820_3824delTGGA c.3618_3622delTGGA p.Asp1206fs Pathogenic Renieri (1996)
107798231 Exon 41 Missense 3833G>C c.3631G>C p.Gly1211Arg Pathogenic Plant (1999)
107798232 Exon 41 Missense 3834G>A c.3632G>A p.Gly1211Glu Pathogenic Knebelmann (1996)
107798241 Exon 41 Missense never used c.3641G>A p.Gly1214Glu Pathogenic Nagel (2005)
107798247 Exon 41 Deletion 3849delC c.3647delC p.Pro1216fs Pathogenic Knebelmann (1996)
107798257 Exon 41 Deletion 3859_3930del c.3657_3728del p.Gly1220_Pro1243del Pathogenic Hertz (2001)
107798259 Exon 41 Missense 3861G>A c.3659G>A p.Gly1220Asp Pathogenic Plant (1999)
107798268 Exon 41 Missense never used c.3668G>T p.Gly1223Val Pathogenic Nagel (2005)
107798286 Exon 41 Missense never used c.3686G>A p.Gly1229Asp Moderate Cheong (2000)
107798292 Exon 41 Deletion 3894delC c.3692del p.Pro1231fs Pathogenic Knebelmann (1996)
107798292 Exon 41 Insertion c.3894insC c.3692dup p.Gly1232fs Pathogenic Bekheirnia (2010)
107798294 Exon 41 Missense 3896G>A c.3694G>A p.Gly1232Ser Pathogenic Wang (2005)
107798300 Exon 41 Nonsense never used c.3700C>T p.Gln1234X Moderate Pont-Kingdon (2009)
107798306 Exon 41 Indel c.3908_3924delinsT c.3706_3722delinsT p.Pro236fs Pathogenic Bekheirnia (2010)
107798310 Exon 41 Deletion 3912del52 c.3710_3761del52 p.Pro1237fs Pathogenic Kawai (1996)
107798310 Exon 41 Insertion 3912_3913insCC c.3710_3711insCC p.Pro1237fs Pathogenic Plant (1999)
107798321 Exon 41 Missense 3923 G>T c.3721G>T p.Gly1241Cys Pathogenic Lemmink (1997)
107798322 Exon 41 Missense never used c.3722G>T p.Gly1241Val Pathogenic Bekheirnia (2010)
107798331 Exon 41 Missense 3933G>A c.3731G>A p.Gly1244Asp Moderate Barker (2001)
107798354 Exon 41 Missense 3956G>A c.3754G>A p.Gly1252Ser Moderate Knebelmann (1996)
107798357 Exon 41 Insertion 3959_3960insGGCA c.3757_3758insGGCA p.Asn1253fs Pathogenic Kawai (1996)
107798363 Exon 41 Missense 3965G>A c.3763G>A p.Gly1255Arg Pathogenic Hertz (2001)
107798382 Exon 41 Missense 3984G>A c.3782G>A p.Gly1261Glu Pathogenic Martin (1998)
107798391 Intron 41 Splice Site 3992+1delG c.3790+1delG p.? Pathogenic Knebelmann (1996)
107807386 Exon 42-47 Large Deletion never used c.3791-?_3924+?del p.? Pathogenic Lemmink (1997)
107807403 Exon 42 Missense 4010G>A c.3808G>A p.Gly1270Ser Moderate Hertz (2001)
107807409 Exon 42 Deletion 4016delC c.3814delC p.Pro1272fs Pathogenic Renieri (1996)
107807432 Exon 42 Indel never used c.3837_3845del;
3853_3854insA		 p.Gly1279fs Pathogenic Zhang (2011)
107807464 Exon 42 Insertion never used c.3869_3870 ins AACC p.? Pathogenic Tazon-Vega (2007)
107807515 Exon 42 Deletion 4122delT c.3920delT p.Leu1307fs Pathogenic Knebelmann (1996)
107807519 Exon 42 Missense never used c.3924G>C p.Gln1308His Pathogenic Bekheirnia (2010)
107810520 Intron 42 Splice Site 4126+1G>C c.39254+1G>C p.? Pathogenic Cruz-Robles (1999)
107810563 Intron 42 Splice Site never used c.3925-2A>G p.? Pathogenic Nagel (2005)
107810564 Intron 42 Splice Site 4127-1G>A c.3925-1G>A p.? Pathogenic Plant (1999)
107810564 Intron 43 Splice Site never used c.3925-1G>A p.? Pathogenic Tazon-Vega (2007)
107810565 Exon 43-44 Large Deletion never used c.3925-?_4069+?del p.? Pathogenic Barker (2001)
107810598 Exon 43 Nonsense never used c.3958A>T p.Lys1320X Pathogenic Minucci (2007)
107810632 Exon 43 Deletion 4194delT c.3992delT p.Phe1331fs Pathogenic Renieri (1996)
107810637 Exon 43 Missense 4199G>A c.3997G>A p.Gly1333Ser Pathogenic Plant (1999)
107810769 Intron 43 Splice Site never used c.3998-2A>T p.? Pathogenic Krol (2008)
107810769 Intron 43 Splice Site 4200-2A>G c.3998-2A>G p.? Pathogenic Renieri (1996)
107810779 Exon 44 Nonsense never used c.4006G>T p.Gly1336X Pathogenic Tan (2010)
107810816 Exon 44 Deletion 4245del6, 4241G>A c.4043del6,4039G>A p.Pro1350_Gly1351del, p.Gly1348Glu Pathogenic Renieri (1996)
107810842 Exon 44 Missense 4271G>A c.4069G>A p.Gly1357Ser Pathogenic Martin (1998)
107810843 Intron 44 Splice Site 4271+1G>A c.4069+1G>A p.? Pathogenic Plant (1999)
107811646 Exon 45-51 Large Deletion never used c.4070-?_5058+?del p.? Pathogenic Lemmink (1997)
107811647 Exon 45 Deletion 4273delT c.4071delT p.Pro1358fs Pathogenic Knebelmann (1996)
107811678 Exon 45 Deletion 4304_4305delAG c.4102_4103delAG p.Ser1368fs Pathogenic Plant (1999)
107811712 Exon 45 Missense 4338G>T c.4136G>T p.Gly1379Val Pathogenic Renieri (1996)
107811723 Exon 45 Nonsense never used c.4147C>T p.Gln1383X Pathogenic Bekheirnia (2010)
107811737 Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.Gly1388fs Pathogenic Renieri (1996)
107811747 Exon 45 Nonsense never used c.4171G>T p.Gly1391X Pathogenic Bekheirnia (2010)
107811750 Exon 45 Deletion never used c.4175delC p.Pro1392fs Moderate Pont-Kingdon (2009)
107811753 Exon 45 Nonsense 4379 C>T c.4177 C>T p.Gln1393X Pathogenic Inoue (1999)
107811753 Exon 45 Deletion c.4379delC c.4177delC p.Gln1393fs Moderate Bekheirnia (2010)
107811772 Exon 45 Duplication 4398_4399insC c.4196dup p.Gly1400fs Pathogenic Gross (2002)
107815916 Intron 45 Splice Site 4401-1G>A c.4199-1G>A p.? Pathogenic Gross (2002)
107815917 Exon 46-47 Indel ins10-15kb; del25kb ins10-15kb (intron 46);
del25kb		 p.? Pathogenic Lemmink (1997)
107815917 Exon 46-51 Large Deletion never used c.4199-?_5058+?del p.? Pathogenic King (2006)
107815932 Exon 46 Duplication 4416insC c.4214dup p.Gly1406fs Pathogenic Ermisch (2000)
107815946 Exon 46 Missense 4430C>T c.4228C>T p.Arg1410Cys Pathogenic Renieri (1996)
107815953 Exon 46 Deletion never used c.4235delG p.Gly1412fs Pathogenic Ma (2011)
107815957 Exon 46 Silent 4441C>T c.4239C>T p.= Benign Kawai (1996)
107815971 Exon 46 Indel 4455_4464del
dup4465_4482		 c.4253_4262del;
4263_4280dup		 p.Gly1420fs Pathogenic Hertz (2001)
107815979 Exon 46 Missense 4463G>T c.4261G>T p.Gly1421Trp Moderate Renieri (1996)
107815989 Exon 46 Missense never used c.4271G>A p.Gly1424Glu Pathogenic Zhang (2011)
107815993 Exon 46 Silent 4477C>T c.4275C>T p.= Benign Barker (2001)
107815997 Exon 46 Missense never used c.4279G>T p.Gly1427Cys Pathogenic Nagel (2005)
107815998 Exon 46 Missense never used c.4280G>C p.Gly1427Ala Pathogenic Ma (2011)
107815998 Exon 46 Missense 4482G>T c.4280G>T p.Gly1427Val Moderate Plant (1999)
107816016 Intron 46 Splice Site 4499+1G>A c.4297+1G>A p.? Pathogenic Wang (2005)
107817367 Exon 47 Splice Site 4500-1G>C c.4298-1G>C p.? Pathogenic Barker (2001)
107817368 Exon 47 Missense never used c.4298G>T p.Gly1433Val Pathogenic Ma (2011)
107817368 Exon 47-51 Large Deletion never used c.4301-?_5058+?del p.? Pathogenic Nagel (2005)
107817385 Exon 47 Duplication 4517_4552dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA		 c.4315_4350dup
GGTCCCCCTGGTCC
AGATGGATTGCAAGGT
CCCCCA		 p.Gly1439_Pro1450dup Pathogenic Renieri (1996)
107817394 Exon 47 Missense 4526G>C c.4324G>C p.Gly1442Arg Pathogenic King (2006)
107817395 Exon 47 Missense never used c.4325G>C p.Gly1442Ala Moderate Hopker (2009)
107817395 Exon 47 Missense 4527G>A c.4325G>A p.Gly1442Asp Pathogenic Plant (1999)
107817395 Exon 47 Deletion never used c.4325_4351 del p. Asp1444_Pro1452del Pathogenic Tazon-Vega (2007)
107817412 Exon 47 Missense 4544G>A c.4342G>A p.Gly1448Ser Pathogenic Wang (2005)
107817414 Exon 47 Insertion 4546_4547insT c.4344_4345insT p.Pro1449fs Pathogenic Renieri (1996)
107817419 Exon 47 Deletion never used c.4349delC p.Pro1450fs Pathogenic Nagel (2005)
107817421 Exon 47 Missense 4553G>A c.4351G>A p.Gly1451Ser Pathogenic Lemmink (1997)
107817506 Exon 47 Deletion 4638_4639delGA c.4436_4437delGA p.Gly1479fs Pathogenic Hertz (2001)
107817507 Exon 47 Deletion 4639delA c.4437delA p.Gly1479fs Pathogenic Plant (1999)
107817509 Exon 47 Missense never used c.4439C>G p.Thr1480Arg Moderate Ma (2011)
107817527 Exon 47 Missense 4659G>C c.4457G>C p.Gly1486Ala Moderate Plant (1999)
107817533 Exon 47 Missense 4665C>T c.4463C>T p.Ser1488Phe Pathogenic Knebelmann (1996)
107817561 Exon 47 Deletion 4693delAG c.4491_4492del AG p.Arg1497Serfs Pathogenic Inoue (1999)
107817563 Exon 47 Missense 4686C>A c.4493C>A p.Ala1498Asp Moderate Lemmink (1997)
107817571 Exon 47 Nonsense never used c.4501C>T p.Gln1501X Pathogenic Bekheirnia (2010)
107817580 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)
107817581 Intron 47 Splice Site 4712+1G>C c.4510+1G>C p.? Pathogenic Kawai (1996)
107822636 Exon 48 Deletion c.4715delA c.4513delA p.Thr1505fs Pathogenic Bekheirnia (2010)
107822637 Exon 48 Indel never used c.4514_4529
indelTTTCATCT		 p.Thr1505fs Pathogenic Nagel (2005)
107822655 Exon 48 Missense never used c.4532G>A p. Arg1511His Uncertain Cheong (2000)
107822672 Exon 48 Missense 4751C>A c.4549C>A p.Pro1517Thr Pathogenic Renieri (1996)
107822686 Exon 48 Nonsense 4765C>A c.4563C>A p.Cys1521X Pathogenic Hertz (2001)
107822736 Exon 48 Missense 4815G>C c.4613G>C p.Trp1538Ser Moderate Lemmink (1997)
107822737 Exon 48 Nonsense 4816G>A c.4614G>A p.Trp1538X Pathogenic Knebelmann (1996)
107822798 Exon 48 Missense 4877C>G c.4675C>G p.Pro1559Ala Benign Plant (1999)
107822808 Exon 48 Deletion c.4887_4890del4 c.4685del4 p.Ser1562fs Pathogenic Bekheirnia (2010)
107822810 Exon 48 Nonsense 4889C>T c.4687C>T p.Arg1563X Pathogenic Knebelmann (1996)
107822811 Exon 48 Missense 4890G>A c.4688G>A p.Arg1563Gln Moderate Gross (2002)
107824663 Intron 48 Indel c.4891-30del22insCA c.4689-30_4689-9
delinsCA 		p.? Pathogenic Bekheirnia (2010)
107824690 Exon 49 Splice Site 4891-3del32 c.4689-3del32 p.? Pathogenic Kawai (1996)
107824693 Exon 49-51 Large Deletion never used c.4689-?_5058+?del p.? Pathogenic Lemmink (1997)
107824694 Exon 49 Missense never used c.4690T>C p.Cys1564Arg Moderate Pont-Kingdon (2009)
107824695 Exon 49 Missense 4893G>C c.4691G>C p.Cys1564Ser Moderate Zhou (1991)
107824703 Exon 49 Missense 4901T>C c.4699T>C p.Cys1567Arg Pathogenic Knebelmann (1996)
107824706 Exon 49 Missense never used c.4702G>A p.Glu1568Gln Pathogenic Tan (2010)
107824754 Exon 49 Deletion 4952_4958del7 c.4750_4756del7 p.Pro1584fs Moderate Plant (1999)
107824754 Exon 49 Missense never used c.4751C>T p.Pro1584Leu Moderate Pont-Kingdon (2009)
107824760 Exon 49 Missense 4958T>C c.4756T>C p.Cys1586Arg Pathogenic Hertz (2001)
107824761 Exon 49 Missense 4959G>T c.4757G>T p.Cys1586Phe Pathogenic Wang (2005)
107824770 Exon 49 Missense 4968G>T c.4766G>T p.Gly1589Val Pathogenic King (2006)
107824772 Exon 49 Missense 4970T>G c.4768T>G p.Trp1590Gly Pathogenic King (2006)
107824784 Exon 49 Deletion never used c.4780_4781delTG p.Trp1594fs Pathogenic Ma (2011)
107824791 Exon 49 Missense 4989G>A c.4787G>A p.Gly1596Asp Pathogenic Renieri (1996)
107824794 Exon 49 Missense 4992A>G c.4790A>G p.Tyr1597Cys Moderate Gross (2002)
107824795 Exon 49 Nonsense 4993T>A c.4791T>A p.Tyr1597X Pathogenic Martin (1998)
107824807 Exon 49 Missense 5005G>A c.4803G>A p.Met1601Ile Pathogenic Plant (1999)
107824808 Intron 49 Splice Site 5005+1ins10 c.4803+1ins10 p.? Pathogenic Lemmink (1997)
107824808 Intron 49 Splice Site 5005+1G>A c.4803+1G>A p.? Moderate Knebelmann (1996)
107824929 Intron 49 Splice Site 5005+121T>C c.4803+121T>C p.? Pathogenic Shimizu (2006)
107825002 Intron 49 Splice Site 5006-151_150insT c.4804-151_150insT p.? Pathogenic Shimizu (2006)
107825181 Exon 50 Deletion 5034delG c.4832delG p.Gly1611fs Pathogenic Renieri (1996)
107825243 Exon 50 Missense never used c.4894T>G p.Cys1632Gly Pathogenic Bekheirnia (2010)
107825262 Exon 50 Missense 5115G>A c.4913G>A p.Cys1638Tyr Moderate Wilson (2007)
107825291 Exon 50 Duplication never used c.4942dup p.Trp1648fs Pathogenic Ma (2011)
107825295 Exon 50 Missense 5148T>G c.4946T>G p.Leu1649Arg Moderate Barker (1996)
107825317 Exon 50 Deletion 5170 delC c.4968delC p.Asp1656fs Pathogenic Inoue (1999)
107825325 Exon 50 Missense 5178G>A c.4976G>A p.Ser1659Asn Pathogenic Knebelmann (1996)
107826181 Intron 50 Splice Site c.5179-2A>G c.4977-2A>G p.? Pathogenic Bekheirnia (2010)
107826200 Exon 51 Deletion 5196_5203del8 c.4994_5001del8 p.Thr1665fs Pathogenic Plant (1999)
107826226 Exon 51 Nonsense never used c.5020C>T p.Arg1674X Pathogenic Bekheirnia (2010)
107826235 Exon 51 Nonsense 5231C>T c.5029C>T p.Arg1677X Pathogenic Martin (1998)
107826236 Exon 51 Missense 5232G>A c.5030G>A p.Arg1677Gln Moderate Barker (1997)
107826236 Exon 51 Missense 5232G>C c.5030G>C p.Arg1677Pro Moderate Barker (2001)
107826236 Exon 51 Missense never used c.5030G>T p.Arg1677Leu Pathogenic Ma (2011)
107826238 Exon 51 Missense 5234T>C c.5032T>C p.Cys1678Arg Pathogenic Gross (2002)
107826240 Exon 51 Deletion 5236delT c.5034delT p.Cys1678fs Pathogenic Martin (2000)
107826240 Exon 51 Missense 5236T>G c.5034T>G p.Cys1678Trp Pathogenic Inoue (1999)
107826248 Exon 51 Missense 5244G>T c.5042G>T p.Cys1681Phe Pathogenic Wang (2005)
107826312 3'UTR Insertion c.5309_5310insA c.5058+48insAT
(*48_49insAT)		 p.? Uncertain Bekheirnia (2010)