ALPORT Database Display Page
- Click the arrows to sort by Location, Mutation Type, Classification, or References columns. Place mouse over icon for Comments.
- For cDNA numbering, nucleotide 1 is the "A" of the ATG start codon.
- Frame Shifts are documented by stating the original amino acid followed by the codon number and new amino acid (G430V), then fsX#, where # is the codon number of the newly formed stop codon
510 records found.
![]() Location ![]() |
![]() Mutation Type ![]() |
Original cDNA report |
Nucleotide Change |
Protein Change |
![]() Classification ![]() |
![]() References ![]() |
Comments |
|---|---|---|---|---|---|---|---|
| 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) | ![]() |


