ALPORT Database Display Page

510 records found.

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Location
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Mutation Type
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report 		Nucleotide
Change 		Protein
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Classification
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References
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Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Large Deletion not used c.1-?_81+?del No Protein Mutation Lemmink (1997)
Exon 01 Missense 203A>G c.1A>G p.M1V Mutation Lemmink (1997)
Exon 01-04 Large Deletion not used c.1-?_ 276+?del No Protein Mutation Lemmink (1997)
Exon 01-18 Large Deletion not used c.1-?_ 1032+?del No Protein Mutation Hertz (2008)
Exon 01-18 Large Deletion not used c.1-?_1032+?del No Protein Mutation Lemmink (1997)
Exon 01-30 Large Deletion not used c.1-?_ 2509+?del No Protein Mutation Lemmink (1997)
Exon 01-30 Large Deletion not used c.1-?_ 2509+?del No Protein Mutation Plant (1999)
Exon 01-32 Large Deletion not used c.1-?_ 2767+?del No Protein Mutation Lemmink (1997)
Exon 01-32 Large Deletion not used c.1-?_ 2767+?del No Protein Mutation Lemmink (1997)
Exon 01-51 Large Deletion not used c.1-?_ 5058+?del No Protein Mutation Barker (2001)
Exon 01-51 Large Deletion not used c.1-?_ 5058+?del No Protein Mutation Nozu (2008)
Exon 01 Deletion 204_205delTG c.2_3delTG p.M1fs Mutation King (2006)
Exon 01 Nonsense 215G>T c.13G>T p.G5X Mutation Cruz-Robles (1999)
Exon 01 Insertion not used c.41_42insTCTT p.L14FfxX39 Mutation Hertz (2008)
Exon 01 Deletion not used c.49_50delCT p.L17EfxX22 Mutation Ellison (2009)
Exon 02-36 Duplication not used c.82-27.699_3246
+16.073dup		 p.A28_K1082dup Mutation Arrondel (2004)
Exon 02-08 Large Deletion not used c.82-?_ 465+?del Mutation Martin (1998)
Exon 02-19 Large Deletion not used c.82-?_ 1165+?del Mutation Lemmink (1997)
Exon 02-36 Large Deletion not used c.82-?_ 3246+?del Mutation Lemmink (1997)
Exon 02-37 Large Deletion not used c.82-?_ 3373+?del Mutation King(2006)
Exon 02-51 Large Deletion not used c82-?_5058+?del Mutation Plant (1999)
Exon 02-51 Large Deletion not used c82-?_5058+?del Mutation Plant (1999)
Exon 02 Nonsense not used c.87C>A p.C29X Mutation Savige (2008)
Exon 02 Nonsense 292T>G c.90T>G p.Y30X Mutation Martin (2000)
Exon 02 Deletion not used c.119delG p.Cys40SerfsX4 Mutation Tazon-Vega (2007)
IVS 02 Splice Site 344-1G>A c.142-1G>A Mutation Plant (1999)
Exon 03-37 Large Deletion not used c.142-?_ 3373+?del Mutation Barker (2001)
Exon 03 Missense 363G>A c.161G>A p.G54D Moderate Mutation Turco (1995)
IVS 03 Splice Site 433+1G>A c.231+1G>A Mutation Barker (2001)
IVS 03 Splice Site 434-1G>T c.232-1G>T Mutation Barker (2001)
Exon 04/05-26 Large Deletion not used c.232-?_ 2041+?del Mutation Lemmink (1997)
Exon 04-13 Large Deletion not used c.232-?_ 780+?del p.G78_Q260del Mutation Lemmink (1997)
Exon 04-47 Large Deletion not used c.232-?_ 4510+?del No Protein Mutation Lemmink (1997)
Exon 04 Deletion 452delG c.250delG p.G84GfsX154 Mutation Plant (1999)
IVS 04 Splice Site not used c.276+5G>A Mutation Nagel (2005)
IVS 04 Splice Site 479-1G>T c.277-1G>T Moderate Mutation Plant (1999)
Exon 05-10 Large Deletion not used c.277-?_ 609+?del Mutation Barker (1990)
Exon 05 Deletion 496delC c.293delC p.P98LfsX154 Mutation Barker (2001)
IVS 05 Splice Site 524-1G>A c.322-1G>A Mutation Plant (1999)
Exon 06 Deletion not used c.351_359 del p.P118_G120del Mutation Savige (2008)
Exon 06 Deletion not used c.368delG p.G123DfsX154 Mutation Nagel (2005)
IVS 06 Splice site c.384-+ 1873 G>A c.385-719 G>A Mutation King (2002)
IVS 06 Splice Site 587-1G>C c.385-1G>C Mutation Hertz (2001)
Exon 07 Missense 588G>A c.386G>A p.G129E Mutation Lemmink (1997)
Exon 07 Missense 588G>T c.386G>A p.G129V Mutation Lemmink (1997)
Exon 07 Nonsense 590G>T c.388G>T p.E130X Mutation Plant (1999)
Exon 07 Missense 632G>A c.430G>A p.G144S Mutation Plant (1999)
Exon 08 Deletion 642del G c.440delG p.G147DfsX154 Mutation Inoue (1999)
Exon 08 Insertion not used c.441_442insC p.P148AfsX157 Mutation Nagel (2005)
Exon 08 Deletion 648delC c.446delC p.P149LfsX154 Mutation Martin (1998)
IVS 08 Splice Site not used c.466-17T>G Mutation Nagel (2005)
IVS 08 Splice Site 668-12G>A c.466-12G>A p.E157X,
p.G156_Q182del		 Mutation Wang (2005)
IVS 08 Splice Site 668-2A>G c.466-2A>G) Mutation Hertz (2001)
Exon 09 Missense 722G>C c.520G>C p.G174R Mutation Renieri (1996)
Exon 09 missense 731 G>T c.529 G>T p. G177C Mutation Blasi 2000
Exon 09 Missense 731G>C c.529G>C p.G177R Moderate Mutation Renieri (1996)
Exon 09 Deletion 735delC c.533delC p.P178LfsX202 Mutation Knebelmann (1996)
IVS 09 Splice Site 748+1G>AIVS9+1G>A c.546+1G>A Moderate Mutation Knebelmann (1996)
IVS 09 Splice Site 748+3insT c.546+3insT Moderate Mutation Knebelmann (1996)
IVS 09 Splice Site 749-1G>A c.547-1G>A Mutation Hertz (2001)
Exon 10 Insertion 749_750insC c.547_548insC p.G184AfsX229 Mutation Hertz (2001)
Exon 10 Missense not used c.548G>T p.G183V Mutation Nagel (2005)
Exon 10 Insertion 752_753insC c.550_551insC p.L184PfsX215 Mutation Martin (1998)
Exon 10 Missense 776G>A c.574G>A p.G192R Mutation Barker (2001)
Exon 10 Missense 786G>A c.584G>A p.G195D Mutation Hertz (2001)
Exon 10 Missense 795G>A c.593G>A p.G198E Mutation Slajpah (2007)
Exon 10 Missense 804G>T c.602G>T p.G201V Moderate Mutation Hertz (2001)
IVS 10 Splice Site 811+1G>A c.609+1G>A Mutation Hertz (2001)
IVS 10 Splice Site 811+21T>C c.609+21T>C Begnin Barker (2001)
IVS 10 Splice Site 812-2T>A c.610-2T>A Mutation Knebelmann (1996)
IVS 10 Splice Site not used c.610-2A>G Mutation Nagel (2005)
IVS 10 Splice Site not used c.610-2A>G Mutation Tazon-Vega (2007)
Exon 11 Deletion 812_830del19 c.610_628del19 p.G204DfsX214 Mutation Inoue (1999)
Exon 11 Missense 813G>A c.611G>A p.G204D Mutation Gross (2002)
Exon 11 Missense 813G>T c.611G>T p.G204V Mutation Knebelmann (1996)
Exon 11 Deletion 836delC c.634delC p.P212QfsX220 Mutation Renieri (1996)
Exon 11 Missense 840G>A c.638G>A p.G213E Mutation King (2006)
IVS 11 Deletion not used c.646-11_12 del TT p. G216_K229 del Mutation Tazon-Vega (2007)
IVS 11 Splice Site 848-3C>A c.646-3C>A Mutation Plant (1999)
Exon 12 Missense 848G>A c.646G>A p.G216R Mutation Martin (2000)
Exon 12 Missense not used c.647G>T p.G216V Mutation Tazon-Vega (2007)
Exon 12 Insertion not used c.648_649insG p.N217EfsX228 Mutation Nagel (2005)
Exon 12 Insertion not used c.648_649insGG p.N217GfsX221 Mutation Nagel (2005)
Exon 12 Missense 857G>A c.655G>A p.G219S Mutation Renieri (1996)
IVS 12 Splice Site 889+1G>A c.687+1G>A Mutation Lemmink (1997)
IVS 12 Splice Site 890-3C>G c.688-3C>G Mutation Knebelmann (1996)
Exon 13 Missense 890G>C c.688G>C p.G230R Mutation Knebelmann (1996)
Exon 13 Deletion 891delG c.689delG p.G230VfsX253 Mutation Knebelmann (1996)
Exon 13 Missense 918G>A c.716G>A p.G239E Mutation Knebelmann (1996)
Exon 13 Deletion 963_964delAG c.761_762delAG p.E254VfsX264 Mutation Kawai (1996)
IVS 13 Splice Site not used c.780+2 T>G p. G230_Q260 del Mutation Tazon-Vega (2007)
IVS 13 Splice Site 983-1del7 c.781 -1del7 Moderate Mutation Kawai (1996)
Exon 14-51 Large Deletion not used c.781-?_ 5058+?del Mutation Lemmink (1997)
Exon 14 Missense 992G>C c.790G>C p.G264R Moderate Mutation Knebelmann (1996)
Exon 14 Missense not used c.791G>A p.G264D Mutation Nagel (2005)
Exon 14 Nonsense 998C>T c.796C>T p.R266X Mutation Wang (2005)
Exon 14 Deletion 1014delC c.812delC p.P271LfsX345 Mutation Gross (2002)
IVS 14 Splice Site 1036+1G>A c.834+1G>A Moderate Mutation Knebelmann (1996)
IVS 14 Splice Site 1036+5G>T c.834+5G>T p.G261_P278del Mutation Wang (2005)
Exon 15 Nonsense 1061G>T c.859 G>T pE287X Mutation Lemmink (1997)
Exon 15 Nonsense 1068G>T c.866 G>T pE289V Mutation Lemmink (1997)
Exon 15 Missense 1076G>C c.874G>C p.G292R Mutation Barker (2001)
Exon 15 Missense 1077G>T c.875G>T p.G292V Mutation Lemmink (1997)
Exon 15 Missense 1086G>A c.884G>A p.G295D Mutation Barker (2001)
IVS 15 Splice Site 1093+1G>A c.891+1G>A Mutation Knebelmann (1996)
IVS 15 Splice Site 1094-2A>G c.892-2A>G Moderate Mutation Lemmink (1997)
IVS 15 Splice Site 1094-1G>C c.892-1G>C Mutation Lemmink (1997)
Exon 16 Missense 1094G>A c.892G>A p.G298S Mutation Knebelmann (1996)
Exon 16 Nonsense 1115G>T c.913G>T p.E305X Mutation Plant (1999)
Exon 16 Missense 1122G>A c.920G>A p.G307D Moderate Mutation Gross (2002)
Exon 16 Missense 1130G>A c.928G>A p.G310R Mutation Slajpah (2007)
IVS 16 Splice Site not used c.937-1G>A Mutation Nagel (2005)
Exon 17 Missense 1139G>A c.937G>A p.G313S Mutation King (2006)
Exon 17 Large Deletion not used c.937-?_990+?del p.G313_K330del Mutation Lemmink (1997)
Exon 17 Insertion 1147_1148insT c.945_946insT p.G316WfsX317 Mutation Martin (1998)
Exon 17 Missense not used c.955G>C p.G319R Mutation Cheong (2000)
Exon 17 Missense 1158G>A c.956G>A p.G319D Mutation Slajpah (2007)
Exon 17 Silent 1172C>T c.970C>T p.P324P Begnin Plant (1999)
Exon 17 Missense 1175G>A c.973G>A p.G325R Moderate Mutation Barker (2001)
Exon 17 Nonsense 1175G>T c.973G>T p.G325X Mutation Kawai (1996)
Exon 17 Missense 1176G>A c.974G>A p.G325E Mutation Renieri (1996)
Exon 18 Missense 1194G>T c.992G>T p.G331V Mutation Plant (1999)
Exon 18 Missense not used c.1001G>T p.G334V Mutation Hertz (2008)
IVS 18 Splice Site 1234+3delAAGT c.1032+3delAAGT Mutation Knebelmann (1996)
IVS 18 Splice Site 1234+5G>T c.1032+5G>T Moderate Mutation Slajpah (2007)
IVS 18 Splice Site 1235-15delT c.1033-15delT Begnin Barker (2001)
Exon 19-22 Large Deletion not used c1033-?_1516+?del Mutation Lemmink (1997)
Exon 19 Insertion 1264_1265insT c.1062_1063insT p.I355YfsX410 Mutation Barker (2001)
Exon 19 Deletion 1276delA c.1074delA p.K358KfsX473 Mutation Kawai (1996)
Exon 19 Missense 1296G>A c.1094G>A p.G365E Mutation Lemmink (1997)
Exon 19 Silent 1297G>C c.1095G>C p.G365G Begnin Barker (2001)
Exon 19 Missense 1314G>A c.1112G>A p.G371E Mutation Renieri (1996)
Exon 19 Nonsense 1319C>T c.1117C>T p.R373X Mutation Renieri (1996)
Exon 19 Missense 1323G>C c.1121G>C p.G374A Mutation Renieri (1996)
Exon 19 Missense not used c.1139G>A p.G380D Mutation Tazon-Vega (2007)
Exon 19 Missense 1350G>A c.1148G>A p.G383D Mutation Kawai (1996)
IVS 19 Splice Site 1367+1G>A c.1165+1G>A Mutation Renieri (1996)
IVS 19 Splice Site 1367+2T>G c.1165+2T>G Mutation Renieri (1996)
Exon 20-21 Large Deletion not used c1166-?_1423+?del p.A390_G475del Mutation Lemmink (1997)
Exon 20-21 Large Deletion not used c1166-?_1423+?del Mutation Nagel (2005)
Exon 20-22 Large Deletion not used c1166-?_1516+?del Mutation Hertz (2008)
Exon 20-26 Large Deletion not used c1166-?_2041+?del Mutation Lemmink (1997)
Exon 20 Silent 1393C>G c.1191C>G p.G397G Begnin Wang (2005)
Exon 20 Missense 1401G>A c.1199G>A p.G400E Moderate Mutation Plant (1999)
Exon 20 Missense 1410G>T c.1208G>T p.G403V Mutation Wang (2005)
Exon 20 Insertion 1416_1417insA c.1214_1215insA p.R405RfsX410 Mutation Knebelmann (1996)
Exon 20 Missense 1419G>T c.1217G>T p.G406V Moderate Mutation Renieri (1996)
Exon 20 Insertion 1419_1420insGGGG c.1217ins_1218GGGG p.G406GfsX411 Mutation Renieri (1996)
Exon 20 Nonsense 1422C>T c.1220C>T p.Q407X Mutation Hertz (2001)
Exon 20 Missense 1428G>A c.1226G>A p.G409D Mutation Renieri (1996)
Exon 20 Missense 1437G>T c.1235G>T p.G412V Moderate Mutation Knebelmann (1996)
Exon 20 Missense 1445G>A c.1243G>A p.G415R Mutation Martin (2000)
Exon 20 Deletion not used c.1254delT p.P419LfsX473 Mutation Nagel (2005)
Exon 20 Missense 1461G>A c.1259G>A p.G420E Mutation Knebelmann (1996)
Exon 20 Missense 1461G>T c.1259G>A p.G420V Mutation Martin (1998)
Exon 20 Deletion 1467delC c.1265delC p.P422LfsX473 Mutation Knebelmann (1996)
Exon 20 Missense 1470G>A c.1268G>A p.G423E Mutation Knebelmann (1996)
Exon 20 Missense not used c.1276G>A p.G426R Mutation Nagel (2005)
Exon 20 Insertion 1482_1483insA c.1280_1281insA p.Q427QfsX447 Mutation Renieri (1996)
Exon 20 Missense not used c.1286G>A p.G429E Mutation Tazon-Vega (2007)
Exon 20 Duplication 1486_1487insG c.1288_1289dupG. p.A430GfsX447 Mutation Wang (2005)
Exon 20 Missense 1533T>G c.1331T>G p.I444S Begnin Wang (2005)
IVS 20 Splice Site 1542-2A>G c.1340-2A>G Mutation Lemmink (1997)
Exon 21 Deletion 1552_1554delAT c.1350_1351delAT p.I450MfsX451 Mutation Plant (1999)
Exon 21 Deletion 1567del9 c.1365del9 p.P456_P458del Mutation Renieri (1996)
Exon 21 Deletion 1568_1576del c.1366_1374del p.P456_P458del Moderate Mutation Martin (1998)
Exon 21 Deletion 1573-1581del c.1371-1379del p.P458_G460del Mutation Hertz (2001)
Exon 21 Deletion 1578delC c.1376delC p.P459QfsX473 Mutation Knebelmann (1996)
Exon 21 Missense 1599G>A c.1397G>A p.G466E Mutation Kawai (1996)
Exon 21 Missense not used c.1406G>A p.G469E Mutation Nagel (2005)
Exon 21 Missense 1616G>A c.1414G>A p.G472R Mutation Plant (1999)
IVS 21 Splice Site 1625+1G>A 1423+1G>A Moderate Mutation Martin (1998)
IVS 21 Splice Site 1625+56_1625+57ins c.1423+56_1423+57ins p.G463_K474del Mutation Wang (2005)
IVS 21 Splice Site 1626-1G>A c.1424-1G>A p.G475_P505del Mutation Wang (2005)
Exon 22-28; 38-51 Large Deletion not used c.1424-?_ 2244+?del;
3374-?_5058+?del		 Mutation Lemmink (1997)
Exon 22 Missense 1674G>A c.1472G>A p.G491E Mutation Knebelmann (1996)
Exon 22 Missense 1683G>A c.1481G>A p.G494D Mutation Renieri (1996)
Exon 22 Deletion 1685del36 c.1483del36 p.Q495_G506del Mutation Renieri (1996)
Exon 22 Missense 1691G>T c.1489G>T p.G497C Moderate Mutation Knebelmann (1996)
IVS 22 Splice Site not used c.1516+1G>A p.G475_P505del;
p.M556X		 Mutation Nagel (2005)
IVS 22 Splice Site not used c.1517-1G>T Mutation Tang (2008)
Exon 23 Deletion 1744_1745delAG c.1542_1543delAG p.K514KfsX544 Moderate Mutation Plant (1999)
Exon 23 Missense 1763G>T c.1561G>T p.G521C Mutation Hertz (2001)
Exon 23 Missense 1764G>A c.1562G>A p.G521D Mutation King (2006)
Exon 23 Deletion 1768delA c.1566delA p.A522AfsX556 Mutation Renieri (1996)
Exon 23 Missense 1773G>A c.1571G>A p.G524D Moderate Mutation Knebelmann (1996)
Exon 23 Deletion 1783_1798del16 c.1581_1596del16 Mutation Plant (1999)
IVS 23 Splice Site 1789+1delG c.1587+1delG Mutation Knebelmann (1996)
IVS 23 Splice Site 1789+1G>A 1587+1G>A Mutation Martin (1998)
IVS 23 Splice Site 1789+1G>A c.1587+1G>A Mutation Plant (1999)
Exon 24 Missense not used c.1607G>A p.G536D Mutation Tazon-Vega (2007)
Exon 24 Missense 1835G>C c.1633G>C p.G545R Mutation Plant (1999)
Exon 24 Missense 1836G>T c.1634G>T p.G545V Mutation Plant (1999)
Exon 24 Deletion 1855delC c.1653delC p.L550LfsX556 Mutation Wang (2005)
Exon 24 Missense 1874G>C c.1672G>C p.G558R Mutation Barker (2001)
Exon 24 Missense 1883G>A c.1681G>A p.G561R Mutation Plant (1999)
Exon 24 Missense 1902G>C c.1700G>C p.G567A Mutation Renieri (1996)
Exon 24 Missense 1920G>A c.1718G>A p.G573D Mutation Hertz (2001)
Exon 24 Missense 1937G>A c.1735G>A p.G579R Mutation Plant (1999)
Exon 24 Missense 1937G>A c.1736G>A p.G579E Mutation Inoue (1999)
Exon 24-26 Large Deletion 1941del1.4kb
(to 2150+98)		 c.1739_1948+98del p.Q580_G650del Mutation Plant (1999)
IVS 24 Splice Site 1981+1G>T c.1779+1G>T Mutation Renieri (1996)
IVS 24 Splice Site 1982-1G>A c.1780-1G>A Mutation King (2006)
Exon 25 Missense 1982G>A c.1780G>A p.G594S Moderate Mutation Hertz (2001)
Exon 25 Missense 1985G>A c.1783G>A p.G595R Moderate Mutation Hertz (2001)
Exon 25 Missense 2010G>T c.1808G>T p.G603V Mutation Barker (2001)
Exon 25 Missense 2106G>A c.1814G>A p.G635D Mutation Martin (1998)
Exon 25 Missense 2027G>C c.1825G>C p.G609R Mutation Knebelmann (1996)
Exon 25 Missense 2028G>T c.1826G>T p.G609V Mutation Lemmink (1997)
Exon 25 Missense 2058C>T c.1856C>T p.P619L Mutation Hertz (2001)
Exon 25 Missense/ Splice site not used c.1856C>T p.P2058L Moderate Mutation Tazon-Vega (2007)
Exon 25 Missense 2063G>T c.1861G>T p.G621C Mutation Knebelmann (1996)
Exon 25 Missense 2073G>A c.1871G>A p.G624D Mutation Slajpah (2007)
Exon 25 Missense 2079G>C c.1877G>C p.G626A Moderate Mutation Hertz (2001)
Exon 25 Missense 2088G>A c.1886G>A p.G629D Mutation Barker (2001)
Exon 25 Missense 2097G>A c.1895G>A p.G632D Mutation Knebelmann (1996)
Exon 25 Missense 2099G>A c.1897G>A p.E633K Moderate Mutation Inoue (1999)
Exon 25 Missense 2114G>A c.1912G>A p.G638S Mutation Plant (1999)
Exon 25 Missense 2115G>C c.1913G>C p.G638A Mutation Plant (1999)
Exon 25 Missense 2115G>T c.1913G>T p.G638V Mutation Plant (1999)
IVS 25 Splice Site 2150+1G>A c.1948+1G>A p.G594_P649del;
p.I659X		 Mutation Wang (2005)
Exon 26-29 Large Deletion not used c1949-?_2395+?del Mutation Plant (1999)
Exon 26-37 Large Deletion not used c.1949-?_ 3373+?del p.P651_P1124 del Mutation Hertz (2008)
Exon 26 Missense 2159G>A c.1957G>A p.G653R Mutation Plant (1999)
Exon 26 Deletion 2162delG c.1960delG p.D654IfsX659 Mutation Knebelmann (1996)
Exon 26 Missense 2194G>T c.1992G>T p.K664N Begnin Slajpah (2007)
Exon 26 Missense 2199G>A c.1997G>A p.G666D Mutation Slajpah (2007)
Exon 26 Missense 2207G>C c.2005A>G p.G669R Uncertain Wang (2005)
Exon 26 Missense 2208G>C c.2006G>C p.G669A Mutation Plant (1999)
Exon 26 Deletion 2220delG c.2018delG p.R673KfsX667 Mutation Renieri (1996)
Exon 26 Missense not used c.2023G>A p.G675S Mutation Nagel (2005)
IVS 26 Splice Site 2243+1G>T c.2041+1G>T Mutation Martin (1998)
IVS 26 Splice Site not used c.2042G-18A>G Mutation Savige (2008)
Exon 27 Missense 2244G>A c.2042G>A p.G681D Mutation Knebelmann (1996)
Exon 27 Nonsense 2252G>T c.2050G>T p.G684X Mutation Plant (1999)
Exon 27 Missense 2253G>T c.2051G>T p.G684V Moderate Mutation Kawai (1996)
Exon 27 Silent 2257T>C c.2055T>C p.L685L Begnin Barker (2001)
Exon 27 Deletion not used c.2057delC p.Pro686GlnfsX50 Mutation Tazon-Vega (2007)
Exon 27 Missense 2262G>A c.2060G>A p.G687E Mutation Plant (1999)
Exon 27 Duplication not used c.2062_2114dup p G681-G716 del Mutation Tazon-Vega (2007)
Exon 27 Missense not used c.2098G>T p.E700X Mutation Hertz (2008)
Exon 27 Missense 2309A>G c.2107A>G p.I703V Begnin Wang (2005)
Exon 27 Missense 2348G>C c.2146G>C p.G716R; F717_K748del; fxX750 Mutation Kawai (1996)
IVS 27 Splice Site not used c.2146+3A>C Mutation Nagel (2005)
IVS 27 Splice Site 2349-3C>G c.2147-3C>G Mutation Martin (1998)
IVS 27 Splice Site not used c.2147-2A>G Mutation Nagel (2005)
Exon 28 Deletion 2349delG c.2147delG p.G716AfsX735 Mutation Martin (1998)
Exon 28-32 Duplication not used c.2147-?_ 2767+?dup Mutation Lemmink (1997)
Exon 28 Missense 2367G>A c.2165G>A p.G722E Mutation Barker (2001)
Exon 28 Deletion 2408_2428del21 c.2206_2226del21 p.E736_P742del Mutation King (2006)
Exon 28 Missense not used c.2215C>T p.P739S Mutation Cheong (2000)
Exon 28 Missense 2421G>A c.2219G>A p.G740E Mutation Kawai (1996)
Exon 28 Missense 2430G>A c.2228G>A p.G743D Mutation Plant (1999)
IVS 28 Splice Site 2446+2T>C c.2244+2T>G Mutation King (2006)
IVS 28 Splice Site 2447-1G>A c.2245-1G>A Mutation Martin (1998)
Exon 29 Missense not used c.2287G>A p.G763R Mutation Nagel (2005)
Exon 29 Missense 2499G>A c.2297G>A p.G766D Moderate Mutation Hertz (2001)
Exon 29 Missense 2517G>A c.2315G>A p.G772D Mutation Kawai (1996)
Exon 29 Insertion 2524_2525insA c.2322_2123insA p.G775RfsX776 Mutation Hertz (2001)
Exon 29 Missense 2534G>A c.2332G>A p.G776S Moderate Mutation Plant (1999)
Exon 29 Deletion 2550delC c.2348delC p.P783RfsX791 Mutation Martin (1998)
Exon 29 Silent 2551G>A c.2349G>A p.P783P Begnin Barker (2001)
Exon 29 Missense 2562G>T c.2360G>T p.G787V Mutation King (2006)
Exon 29 Missense 2588G>A c.2386G>A p.G796R Mutation Plant (1999)
IVS 29 Splice Site 2597+2delT c.2395+2delT Mutation Renieri (1996)
IVS29 Splice site c.2395+2750 A>C c.2395+2733 A>C Mutation King (2002)
Exon 30 Deletion 2606-2623del c.2404-2421del18 p.G802_P807del Mutation Hertz (2001)
Exon 30 Missense 2606G>A c.2404G>A p.G802R Mutation Knebelmann (1996)
Exon 30 Missense 2625G>A c.2423G>A p.G808E Moderate Mutation Plant (1999)
Exon 30 Missense 2633G>A c.2431G>A p.G811R Mutation Slajpah (2007)
Exon 30 Missense 2634G>T c.2432G>T p.G811V Mutation Knebelmann (1996)
Exon 30 Indel 2636delCCTCCTGG
insAACCTGGACCAAT
GGGACCAATGGGAACAC;
2636del8ins30		 c.2434delCCTCCTGG
insAACCTGGACCAAT
GGGACCAATGGGAACAC;
c.2434del8ins30		 p.P812Qfs Mutation Martin (1998)
Exon 30 Indel 2654_2656delATA/
2653_2654insT		 c.2452_2454delATA/
2451_2452insT		 p.I818WfsX853 Mutation Hertz (2001)
Exon 30 Missense 2666G>C c.2464G>C p.G822R Moderate Mutation Cruz-Robles (1999)
Exon 30 Deletion 2666_2674del9 c.2464_2472del9 p.G822_P824del Mutation Plant (1999)
Exon 30 Splice Site not used c.2509G>A p G681-G716 del Mutation Tazon-Vega (2007)
IVS 30 Splice Site 2712-33A>G c.2510-33A>G Moderate Mutation Barker (2001)
Exon 31 Deletion 2712delG c.2510delG p.G837VfsX874 Mutation King (2006)
Exon 31-36 Large Deletion not used c2510-?_3246+?del Mutation King (2006)
Exon 31 Deletion 2752_2775del c.2550_2573del p.P851_P858del Mutation Wang (2005)
Exon 31 Missense 2756G>A c.2554G>A p.G852R Mutation Kawai (1996)
Exon 31 Missense 2757G>A c.2555G>A p.G852E Mutation Plant (1999)
Exon 31 Deletion 2791del36 c.2589del36 p.S864_G875del Mutation Martin (2000)
Exon 31 Deletion 2797-2814del18 c.2595_2612del18 p.G866_P871del Mutation Gross (2002)
Exon 31 Missense 2799G>A c.2597G>A p.G866E Moderate Mutation Renieri (1996)
Exon 31 Missense 2807G>A c.2605G>A p.G869R Moderate Mutation Plant (1999)
Exon 31 Missense 2816G>C c.2614G>C p.G872R Mutation Plant (1999)
Exon 31 Missense not used c.2624G>A p.G875E Mutation Tazon-Vega (2007)
Exon 31 Deletion 2827delA c.2625delA p.G875GfsX900 Mutation Plant (1999)
Exon 31 Missense 2835G>T c.2633G>T p.G878R Mutation Plant (1999)
Exon 31 Deletion 2845delG c.2643delG p.G881GfsX900 Mutation Barker (2001)
Exon 31 Missense not used c.2660G>T p.G887V Mutation Nagel (2005)
IVS 31 Splice Site 2880-10T>G c.2678-10T>G Mutation King (2006)
Exon 32 Missense 2894A>G c.2692A>G p.M898V Moderate Mutation Barker (2001)
Exon 32 Missense not used c.2705 G>A p .G902V Mutation Cheong (2000)
Exon 32 Duplication not used c.2708dup p.Pro904SerfsX19 Mutation Tazon-Vega (2007)
Exon 32 Missense not used c.2732 G>A p .G911E Mutation Cheong (2000)
Exon 32 Missense 2948A>G c.2746A>G p.S916G Mutation Barker (2001)
Exon 32 Indel 2948del13insAT c.2746del13insAT p.S916NfsX918 Mutation Plant (1999)
IVS 32 Deletion not used c.2767+2delTT p.G893_G923 del Mutation Tazon-Vega (2007)
IVS32 Splice site c.2510-10 T>G Mutation King (2002)
IVS 32 Splice Site 2970-11A>G c.2768-11A>G Begnin Barker (2001)
Exon 33 Nonsense 2990C>T c.2788C>T p.Q930X Mutation Wang (2005)
Exon 33 Insertion 3004_3005insT c.2802_2803insT p.G935WfsX942 Mutation Hertz (2001)
Exon 33 Missense not used c.2804G>A p.G935D Mutation Nagel (2005)
Exon 33 Missense 3023G>T c.2821G>T p.G941C Moderate Mutation Hertz (2001)
Exon 33 Deletion 3025delTAG c.2823_2825delTAG p.S942del Mutation Renieri (1996)
Exon 33 Missense 3042 G>A c.2840 G>A p.G947D Mutation Inoue (1999)
Exon 33 Deletion 3048delC c.2846delC p.P949QfsX995 Mutation King (2006)
Exon 33 Missense 3060G>T c.2858G>T p.G953V Mutation Knebelmann (1996)
IVS 33 Splice Site 3119+1G>C c.2917+1G>C Mutation Knebelmann (1996)
IVS 33 Splice Site 3120-1G>T c.2918-1G>T Moderate Mutation Knebelmann (1996)
Exon 34 Deletion 3142delA c.2940delA p.P980PfsX995 Mutation Renieri (1996)
Exon 34-51 Large Deletion not used c3016-?_5058+?del Mutation Lemmink (1997)
Exon 34 Deletion 3131delAG c.2929delAG p.V977FfsX995 Mutation Plant (1999)
Exon 34 Deletion 3145delA c.2943delA p.K981KfsX995 Mutation Peissel (1994)
Exon 34 Deletion 3161_3178del18 c.2959_2976del18 p.P987-Q992del Mutation Plant (1999)
Exon 34 Deletion 3167delG c.2965delG p.D989TfsX995 Mutation Lemmink (1997)
IVS 34 Splice Site 3218+1G>T c.3016+1G>T Mutation Barker (2001)
IVS 34 Splice Site 3219-1G>A c.3017-1G>A Mutation Barker (2001)
Exon 35 Missense 3219G>T c.3017G>T p.G1006V Mutation Barker (2001)
Exon 35-36 Large Deletion not used c3017-?_3246+?del Mutation King (2006)
Exon 35 Missense 3246G>T c.3044G>T p.G1015V Mutation Knebelmann (1996)
Exon 35 Nonsense 3248C>T c.3046C>T p.Q1016X Mutation Knebelmann (1996)
Exon 35 Deletion 3259delT c.3057delT p.L1019LfsX1020 Mutation Knebelmann (1996)
Exon 35 Missense 3282G>T c.3080G>T p.G1027V Mutation Wang (2005)
Exon 35 Missense 3290G>A c.3088G>A p.G1030S Moderate Mutation Martin (1998)
IVS 35 Splice Site not used c.3106+4delA;
3106+6_17del
TGATGAAAATCT		 Mutation Nagel (2005)
IVS 35 Splice Site 3309-2A>G c.3107-2A>G Mutation Hertz (2001)
Exon 36 Missense 3309G>T c.3107G>T p.G1036V Mutation Knebelmann (1996)
Exon 36 Missense 3317G>A c.3115G>A p.G1039S Mutation Knebelmann (1996)
Exon 36 Missense 3336G>A c.3134G>A p.G1045E Mutation Martin (2000)
Exon 36 Nonsense 3371G>T c.3169G>T p.G1057X Mutation Knebelmann (1996)
Exon 36 Nonsense 3380G>T c.3178G>T p.G1060X Mutation Martin (1998)
Exon 36 Nonsense 3383C>T c.3181C>T p.Q1061X Mutation Plant (1999)
Exon 36 Missense not used c.3188G>T p.G1063V Mutation Nagel (2005)
Exon 36 Missense 3398G>C c.3196G>C p.G1066R Mutation Knebelmann (1996)
Exon 36 Missense 3398G>A c.3196G>A p.G1066S Mutation Martin (1998)
Exon 36 Missense 3399G>C c.3197G>C p.G1066A Mutation Barker (2001)
Exon 36 Nonsense 3414C>G c.3212C>G p.S1071X Mutation Hertz (2001)
Exon 36 Missense not used c.3247G>A p.G1083S Mutation Nagel (2005)
Exon 37 Deletion not used c.3247-?_ 3373+?del Mutation Tazon-Vega (2007)
Exon 37-45 Large Deletion not used c3247-?_4198+?del Mutation Plant (1999)
Exon 37-51 Large Deletion not used c.3247-?_ 5058+?del p.G1083_T1685 del Mutation Nozu (2008)
Exon 37 Silent 3457G>A c.3255T>A p.P1085P Begnin Inoue (1999)
Exon 37 Silent not used c.3256G>C p.G1086R Moderate Mutation Tazon-Vega (2007)
Exon 37 Missense 3459G>A c.3257G>A p.G1086D Mutation Martin (2000)
Exon 37 Nonsense 3491A>T c.3289A>T p.K1097X Mutation Martin (1998)
Exon 37 Missense 3513G>T c.3311G>T p.G1104V Mutation Kawai (1996)
Exon 37 Missense 3521G>A c.3319G>A p.G1107R Mutation Plant (1999)
Exon 37 Deletion 3533delA c.3331delA p.T1111PfsX1151 Mutation Renieri (1996)
Exon 37 Insertion 3539_3540insCCTG c.3337_3338insCCTG p.G1113AfsX1137 Mutation Renieri (1996)
IVS 37 Splice Site 3576-11C>A c.3374-11C>A Mutation Martin (2000)
Exon 38-41 Large Deletion not used c3374-?_3790+?del Mutation Plant (1999)
Exon 38-46 Insertion not used not available Mutation Lemmink (1997)
Exon 38-51 Duplication not used c.3374-?_ 5058+?dup Mutation Lemmink (1997)
Exon 38-51 Large Deletion not used c3374-?_5058+?del Mutation Lemmink (1997)
Exon 38-51 Large Duplication not used c3374-?_5055+?dup Moderate Mutation Plant (1999)
Exon 38 Deletion 3615delC c.3413delC p.P1138LfsX1151 Mutation Slajpah (2007)
Exon 38 Missense 3629G>A c.3427G>A p.G1143S Moderate Mutation Renieri (1996)
Exon 38 Missense 3630G>A c.3428G>A p.G1143D Mutation Hertz (2001)
IVS 38 Splice Site 3656+1G>T c.3454+1G>T Mutation Hertz (2001)
IVS 38 Splice Site 3656+1G>T c.3454+1G>T Mutation Martin (1998)
IVS 38 Splice Site 3657-9A>G c.3455-9A>G Moderate Mutation Martin (2000)
Exon 39 Missense 3674 1G>T c.3472 1G>T p.G1158R Mutation Inoue (1999)
Exon 39 Deletion 3676delG c.3474delG p.G1158GfsX1298 Mutation Hertz (2001)
Exon 39 Missense 3683G>A c.3481G>A p.G1161R Mutation Plant (1999)
Exon 39 Missense 3701G>A c.3499G>A p.G1167S Moderate Mutation Martin (2000)
Exon 39 Missense 3710G>A c.3508G>A p.G1170S Mutation Inoue (1999)
Exon 39 Deletion 3711delG c.3509delG p.G1170VfsX1298 Mutation Renieri (1996)
Exon 39 Silent 3715A>G c.3513A>G p.Q1171Q Begnin Barker (2001)
Exon 39 Deletion 3729delG c.3527delG p.G1176DfsX1304 Mutation Martin (1998)
Exon 39 Missense not used c.3535G>A p.G1179R Mutation Nagel (2005)
Exon 39 Nonsense 3740C>T c.3538C>T p.Q1180X Mutation Knebelmann (1996)
Exon 39 Deletion 3745_3751
delGGGTGAA		 c.3543_3549
delGGGTGAA		 p.K1181NfsX1296 Mutation Renieri (1996)
Exon 39 Missense 3746G>C c.3544G>C p.G1182R Mutation Kawai (1996)
IVS 39 Splice Site 3756-9C>G c.3554-9C>G Mutation Martin (1998)
IVS 39 Splice Site 3756-3C>G c.3554-3C>G Moderate Mutation Martin (1998)
IVS 39 Splice Site 3756-1G>A c.3554-1G>A Mutation Knebelmann (1996)
Exon 40 Deletion not used c3554-?_3604+?del p.Q1186_G1202del Mutation Lemmink (1997)
Exon 40 Silent 3784G>A c.3582C>T p.P1194P Begnin Inoue (1999)
Exon 40 Missense 3788G>A c.3586G>A p.G1196R Mutation Martin (1998)
IVS 40 Splice Site not used c.3604+3T>A Mutation Nagel (2005)
IVS 40 Splice Site 3807-3A>T c.3605-3A>T Mutation Knebelmann (1996)
IVS 40 Splice Site 3807-2A>G c.3605-2A>G Mutation Gross (2002)
IVS 40 Splice Site 3807-1G>A c.3605-1G>A Mutation Knebelmann (1996)
Exon 41-51 Large Deletion not used c3605-?_5058+?del Mutation Plant (1999)
Exon 41 Missense 3815G>T c.3613G>T p.G1205C Mutation Knebelmann (1996)
Exon 41 Deletion 3820_3824delTGGA c.3618_3622delTGGA p.D1206EfsX1297 Mutation Renieri (1996)
Exon 41 Missense 3833G>C c.3631G>C p.G1211R Mutation Plant (1999)
Exon 41 Missense 3834G>A c.3632G>A p.G1211E Mutation Knebelmann (1996)
Exon 41 Missense not used c.3641G>A p.G1214E Mutation Nagel (2005)
Exon 41 Deletion 3849delC c.3647delC p.P1216LfsX1298 Mutation Knebelmann (1996)
Exon 41 Deletion 3859_3930del c.3657_3728del p.G1220_P1243del Mutation Hertz (2001)
Exon 41 Missense 3861G>A c.3659G>A p.G1220D Mutation Plant (1999)
Exon 41 Missense not used c.3668G>T p.G1223V Mutation Nagel (2005)
Exon 41 Missense not used c.3686G>A p.G1229D Mutation Cheong (2000)
Exon 41 Deletion 3894delG c.3692delG p.P1231LfsX1298 Mutation Knebelmann (1996)
Exon 41 Missense 3896G>A c.3694G>A p.G1232S Mutation Wang (2005)
Exon 41 Deletion 3912del52 c.3710_3761del52 p.P1237LfsX1287 Mutation Kawai (1996)
Exon 41 Insertion 3912_3913insCC c.3710_3711insCC p.P1237PfsX1298 Mutation Plant (1999)
Exon 41 Missense 3923 G>T c.3721G>T p.G1241C Mutation Lemmink (1997)
Exon 41 Missense 3933G>A c.3731G>A p.G1244D Mutation Barker (2001)
Exon 41 Missense 3956G>A c.3754G>A p.G1252S Moderate Mutation Knebelmann (1996)
Exon 41 Insertion 3959_3960insGGCA c.3757_3758insGGCA p.N1253RfsX1288 Mutation Kawai (1996)
Exon 41 Missense 3965G>A c.3763G>A p.G1255R Mutation Hertz (2001)
Exon 41 Missense 3984G>A c.3782G>A p.G1261E Mutation Martin (1998)
IVS 41 Splice Site 3992+1delG c.3790+1delG Mutation Knebelmann (1996)
Exon 42-47 Large Deletion not used c3791-?_3924+?del Mutation Lemmink (1997)
Exon 42 Missense 4010G>A c.3808G>A p.G1270S Moderate Mutation Hertz (2001)
Exon 42 Deletion 4016delC c.3814delC p.P1272QfsX1298 Mutation Renieri (1996)
Exon 42 Insertion not used c.3869_3870 ins AACC Mutation Tazon-Vega (2007)
Exon 42 Deletion 4122delT c.3920delT p.L1307PfsX1319 Mutation Knebelmann (1996)
IVS 42 Splice Site 4126+1G>C c.39254+1G>C Mutation Cruz-Robles (1999)
IVS 42 Splice Site not used c.3925-2A>G Mutation Nagel (2005)
IVS 42 Splice Site 4127-1G>A c.3925-1G>A Mutation Plant (1999)
IVS43 Slice site not used c.3925-1G>A p.G1309_G1333 del Mutation Tazon-Vega (2007)
Exon 43-44 Large Deletion not used c3925-?_4069+?del Mutation Barker (2001)
Exon 43 Nonsense not used c.3958A>T p.K1360X Mutation Minucci (2007)
Exon 43 Deletion 4194delT c.3992delT p.F1331SfsX1334 Mutation Renieri (1996)
Exon 43 Missense 4199G>A c.3997G>A p.G1333S Mutation Plant (1999)
IVS 43 Splice Site not used c.3998-2A>T Mutation Krol (2008)
IVS 43 Splice Site 4200-2A>G c.3998-2A>G Mutation Renieri (1996)
Exon 44 Deletion 4245del6, 4241G>A c.4043del6,4039G>A p.P1350_G1351del, p.G1348E Mutation Renieri (1996)
Exon 44 Missense 4271G>A c.4069G>T p.G1375S Mutation Plant (1999)
IVS 44 Splice Site 4271+1G>A c.4069+1G>A Mutation Plant (1999)
Exon 45-51 Large Deletion not used c4070-?_5058+?del Mutation Lemmink (1997)
Exon 45 Deletion 4273delT c.4071delT p.G1357GfsX1370 Mutation Knebelmann (1996)
Exon 45 Deletion 4304_4305delAG c.4102_4103delAG p.S1368YfsX1371 Mutation Plant (1999)
Exon 45 Missense 4338G>T c.4136G>T p.G1379V Mutation Renieri (1996)
Exon 45 Insertion 4363_4364insTCCT c.4161_4162insTCCT p.G1388SfsX1418 Mutation Renieri (1996)
Exon 45 Nonsense 4379 C>T c.4177 C>T p.Q1393X Mutation Inoue (1999)
Exon 45 Insertion 4416insC; c.4214insC p.P1405PfsX17 Mutation Ermisch (2000)
Exon 45 Insertion 4398_4399insC c.4196_4197insC p.P1399PfsX1417 Mutation Gross (2002)
IVS 45 Splice Site 4401-1G>A c.4199-1G>A Mutation Gross (2002)
Exon 46-47 Indel ins10-15kb; del25kb Mutation Lemmink (1997)
Exon 46-51 Large Deletion not used c4199-?_5058+?del Mutation King (2006)
Exon 46 Missense 4430C>T c.4228C>T p.R1410C Mutation Renieri (1996)
Exon 46 Silent 4441C>T c.4239C>T p.L1413L Begnin Kawai (1996)
Exon 46 Indel 4455_4464deldup
4465_4482		 c.4253_4462del;
4263_4280dup		 p.G1424GfsX1560 Mutation Hertz (2001)
Exon 46 Missense 4463G>T c.4261G>T p.G1421W Moderate Mutation Renieri (1996)
Exon 46 Silent 4477C>T c.4275C>T p.D1425D Begnin Barker (2001)
Exon 46 Missense not used c.4279G>T p.G1427C Mutation Nagel (2005)
Exon 46 Missense 4482G>T c.4280G>T p.G1427V Moderate Mutation Plant (1999)
IVS 46 Splice Site 4499+1G>A c.4297+1G>A p.P1426_Q1431del Mutation Wang (2005)
Exon 47 Splice Site 4500-1G>C c.4298-1G>C p.T1434_G1504del; fsX1547 Mutation Barker (2001)
Exon 47-51 Large Deletion not used c4301-?_5058+?del Mutation Nagel (2005)
Exon 47 Duplication 4517_4552dup
GGTCCCCCTGGTCCAG
ATGGATTGCAAGGTCC
CCCA		 c.4315_4350dup
GGTCCCCCTGGTCCAG
ATGGATTGCAAGGTCC
CCCA		 p.G1439_P1450dup Mutation Renieri (1996)
Exon 47 Missense 4526G>C c.4324G>C p.G1442R Mutation King (2006)
Exon 47 Missense not used c.4325G>C p.G1442A Moderate Mutation Hopker (2009)
Exon 47 Missense 4527G>A c.4325G>A p.G1442D Mutation Plant (1999)
Exon 47 Deletion not used c.4325_4351 del p. Asp1444_Pro1452del Mutation Tazon-Vega (2007)
Exon 47 Missense 4544G>A c.4342G>A p.G1448S Mutation Wang (2005)
Exon 47 Insertion 4546_4547insT c.4344_4345insT p.P1449SfsX1515 Mutation Renieri (1996)
Exon 47 Deletion not used c.4349delC p.P1450QfsX1547 Mutation Nagel (2005)
Exon 47 Missense 4553G>A c.4351G>A p.G1451S Mutation Lemmink (1997)
Exon 47 Deletion 4638_4639delGA c.4436_4437delGA p.G1479DfsX1484 Mutation Hertz (2001)
Exon 47 Deletion 4639delA c.4437delA p.G1479GfsX1547 Mutation Plant (1999)
Exon 47 Missense 4659G>C c.4457G>C p.G1486A Moderate Mutation Plant (1999)
Exon 47 Missense 4665C>T c.4463C>T p.S1488F Mutation Knebelmann (1996)
Exon 47 Missense 4693delAG c.4491_4492del AG p.R1497SfsX1513 Mutation Inoue (1999)
Exon 47 Missense 4686C>A c.4493C>A p.A1498D Moderate Mutation Lemmink (1997)
IVS 47 Indel ins 10-15 kb in IVS 47;
del ~40 kb 3' to COL4A5		 ins 10-15 kb in IVS 47;
del ~40 kb 3' to COL4A5		 Mutation Plant (1999)
IVS 47 Splice Site 4712+1G>C c.4510+1G>C Mutation Kawai (1996)
Exon 48 Indel not used c.4514_4529
indelTTTCATCT		 p.T1505IfsX1511 Mutation Nagel (2005)
Exon 48 Missense not used c.4532G>A p. R1511H Mutation Cheong (2000)
Exon 48 Nonsense 4765C>A c.4563C>A p.C1521X Mutation Hertz (2001)
Exon 48 Missense 4815G>A c.4613G>A p.W1538S Moderate Mutation Lemmink (1997)
Exon 48 Nonsense 4816G>A c.4614G>A p.W1538X Mutation Knebelmann (1996)
Exon 48 Missense 4877C>G c.4675C>G p.P1559A Begnin Plant (1999)
Exon 48 Nonsense 4889C>T c.4687C>T p.R1563X Mutation Knebelmann (1996)
Exon 48 Missense 4890G>A c.4688G>A p.R1563Q Mutation Gross (2002)
Exon 48 Missense 4890G>A c.4688G>A p.R1563H;
C1564_M1601del;
fsX1614		 Mutation Hertz (2001)
Exon 49 Spice site 4891-3del32 c.4689-3del32 Mutation Kawai (1996)
Exon 49-51 Large Deletion not used c4689-?_5058+?del Mutation Lemmink (1997)
Exon 49 Missense c.4894G>A c.4692G>A p. C1564S Moderate Mutation Zhou (1991)
Exon 49 Missense 4901T>C c.4699T>C p.C1567R Mutation Knebelmann (1996)
Exon 49 Deletion 4952_4958del7 c.4750_4756del7 p.P1584VfsX1598 Moderate Mutation Plant (1999)
Exon 49 Missense 4958T>C c.4756T>C p.C1586R Mutation Hertz (2001)
Exon 49 Missense 4959G>T c.4757G>T p.C1586F Mutation Wang (2005)
Exon 49 Missense 4968G>T c.4766G>T p.G1589V Mutation King (2006)
Exon 49 Missense 4970T>G c.4768T>G p.W1590G Mutation King (2006)
Exon 49 Missense 4751G>A c.4549G>A p.P1517T Mutation Renieri (1996)
Exon 49 Missense 4989G>A c.4787G>A p.G1596D Mutation Renieri (1996)
Exon 49 Missense 4992A>G c.4790A>G p.Y1597C Moderate Mutation Gross (2002)
Exon 49 Nonsense 4993T>A c.4791T>A p.Y1597X Mutation Martin (1998)
Exon 49 Missense 5005G>A c.4803G>A p.M1601I;
H1602_S1659del;
fsX1676		 Mutation Plant (1999)
IVS 49 Splice Site 5005+1ins10 c.4803+1ins10 Mutation Lemmink (1997)
IVS 49 Splice Site 5005+1G>A c.4803+1G>A Moderate Mutation Knebelmann (1996)
IVS 49 Splice Site 5005+121T>C c.4803+121T>C Mutation Shimizu (2006)
IVS 49 Splice Site 5006-151_150insT c.4804-151_150insT Mutation Shimizu (2006)
Exon 50 Deletion 5034delG c.4832delG p.G1611VfsX1614 Mutation Renieri (1996)
Exon 50 Missense 5115G>A c.4913G>A p.C1638Y Moderate Mutation Wilson (2007)
Exon 50 Missense 5148T>G c.4946T>G p.L1649R Moderate Mutation Barker (1996)
Exon 50 Deletion 5170 delC c.4968delC p.D1656EfsX1666 Mutation Inoue (1999)
Exon 50 Missense 5178G>A c.4976G>A p.S1659N Mutation Knebelmann (1996)
Exon 51 Deletion 5196_5203del8 c.4994_5001del8 p.T1665SfsX1673 Mutation Plant (1999)
Exon 51 Nonsense 5231C>T c.5029C>T p.R1677X Mutation Martin (1998)
Exon 51 Missense 5232G>A c.5030G>A p.R1677Q Moderate Mutation Barker (1997)
Exon 51 Missense 5232G>C c.5030G>C p.R1677P Mutation Barker (2001)
Exon 51 Missense 5234T>C c.5032T>C p.C1678R Mutation Gross (2002)
Exon 51 Missense 5236T>G c.5034T>G p.C1678W Mutation Inoue (1999)
Exon 51 Deletion 5236delT c.5034delT p.C1678CfsX1682 Mutation Martin (2000)
Exon 51 Missense 5244G>T c.5042G>T p.C1681Y Moderate Mutation Wang (2005)
Exon 51 Missense 5244G>T c.5042G>T p.C1681F Mutation Wang (2005)

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