BMPR2 Database

  • Reference sequences were NC_000002.11 and NM_001204.6. 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).
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270 variants found

Genomic Position Location Mutation Type Published As Nucleotide Change Protein Change Classification References Comments
203241254 5'UTR Deletion/Insertion c.*-944/5GC-AT c.-944_-943delinsAT p.? Pathogenic Aldred (2007)
203241529 5' UTR 5' UTR substitution c.G-669A c.-669G>A p.? Pathogenic Wang (2009)
203242198 Exon 01-13 Deletion c.1-?_3117-?del ex1-13del p.0? Pathogenic Aldred (2006)
203242198 Exon 01-3 Deletion deletion ex1-3 ex1-3del p.? Pathogenic Girerd (2010)
203242198 Exon 01 Deletion c.?_IVS1del ex1del p.0? Pathogenic Machado (2001)
203242198 Exon 01-4 Deletion del Exon 01-4 ex1-4del p.? Pathogenic Sztrymf (2008)
203242206 Exon 01 Frameshift c.9_10dup p.Leu5fs Pathogenic Smith (unpublished)
203242212 Exon 01 Frameshift c.15_19delGCAGC c.15_19del p.Gln6fs Pathogenic Morisaki (2004)
203242218 Exon 01 Frameshift c.21_29delGCCCTGGCG
insA
c.21_29delinsA p.Pro8fs Pathogenic Machado (2006)  
203242224 Exon 01 Nonsense c.27G>A c.27G>A p.Trp9X Pathogenic Machado (2006)  
203242225 Exon 01 Missense c.28C>T c.28C>T p.Arg10Trp Uncertain Baloira (2008)
203242236 Exon 01 Nonsense c.39G>A p.Trp13X Pathogenic Hamid (2010)
203242241 Exon 01 Frameshift c.44delC c.44del p.Pro15fs Pathogenic Machado (2001)
203242244 Exon 01 Nonsense c.47G>A c.47G>A p.Trp16X Pathogenic Harrison (2004)
203242245 Exon 01 Nonsense c.48G>A c.48G>A p.Trp16X Pathogenic Sztrymf (2008)
203242248 Exon 01 Frameshift c.51-814 del c.51_814del p.Ile18fs Pathogenic Machado (2001)
203242275 Intron 01 Splice site c.76+2T>C p.? Pathogenic Smith (unpublished)
203242311 Intron 01 Intronic c.76+35delC p.? Uncertain dbSNP
203329532 Exon 02-13 Deletion c.77-?_3117-?del ex02-13del p.? Pathogenic Aldred (2006)
203329532 Exon 02 Deletion IVS1_IVS2del ex02del p.? Pathogenic Cogan (2006)
203329532 Exon 02-03 Deletion del Exon 02-3 ex02-03del p.? Pathogenic Rosenzweig (2008)
203329532 Exon 02 Duplication IVS1_IVS2dup ex02dup p.? Pathogenic Cogan (2006)
203329539 Exon 02 Synonymous c.84G>A c.84G>A p.= Benign Wang (2010)
203329541 Exon 02 Missense c.86A>G p.Asn29Ser Uncertain dbSNP
203329546 Exon 02 Nonsense c.91G>T c.91G>T p.Glu31X Pathogenic Koehler (2004)
203329555 Exon 02 Missense c.100T>C c.100T>C p.Cys34Arg Suspected Pathogenic Machado (2006)
203329571 Exon 02 Frameshift c.116delC c.116del p.Pro39fs Pathogenic Rosenzweig (2008)
203329575 Exon 02 Nonsense c.120T>G c.120T>G p.Tyr40X Pathogenic Machado (2006)
203329579 Exon 02 Nonsense c.124C>T c.124C>T p.Gln42X Pathogenic Fujiwara (2008)
203329580 Exon 02 Missense c.125A>G c.125A>G p.Gln42Arg Suspected Pathogenic Roberts (2004)
203329595 Exon 02 Missense c.140G>A c.140G>A p.Gly47Asp Suspected Pathogenic Roberts (2004)
203329611 Exon 02 Missense c.156-157delTC c.156_157del p.His53X Pathogenic Machado (2001)
203329620 Exon 02 Synonymous c.165T>C c.165T>C p.= Benign Morisaki (2004)
203329623 Exon 02 Frameshift c.166delG c.168del p.Thr57fs Pathogenic Machado (2006)  
203329634 Exon 02 Missense c.179G>A c.179G>A p.Cys60Tyr Suspected Pathogenic Thomson (2000)
203329643 Exon 02 In-frame deletion c.188-208del21 c.188_208del p.Ser64_Trp70del Pathogenic Machado (2006)
203329651 Exon 02 Missense c.196T>C c.196T>C p.Cys66Arg Pathogenic Cahn (2004)
203329652 Exon 02 Missense c.197G>A c.197G>A p.Cys66Tyr Pathogenic Machado (2006)
203329655 Exon 02 Missense c.200A>G c.200A>G p.Tyr67Cys Pathogenic Morisaki (2004)
203329656 Exon 02 Nonsense c.201T>G c.201T>G p.Tyr67X Pathogenic Rosenzweig (2008)
203329658 Exon 02 Missense c.203G>A c.203G>A p.Gly68Asp Pathogenic Machado (2006)
203329673 Exon 02 Nonsense c.218C>G c.218C>G p.Ser73X Pathogenic Lane (2000)
203329695 Exon 02 Insertion c.241insT c.240_241insT p.Lys81X Pathogenic Johri (2010)
203329699 Exon 02 Nonsense c.244C>T c.244C>T p.Gln82X Pathogenic Rindermann (2003)
203329701 Exon 02 Missense c.246A>C c.246A>C p.Gln82His Suspected Pathogenic Humbert (2002)
203329702 Exon 02 Missense c.247G>A c.247G>A p.Gly83Arg Pathogenic Sztrymf (2008)
203329703 Intron 02 Splice site c.247+1delGCAAGTG c.247+1_247+7del p.? Pathogenic Rosenzweig (2008)
203329704 Intron 02 Splice site IVS2 247+2delC c.247+2del p.? Pathogenic Cogan (2006)
203329708 Intron 02 Intronic IVS2 247+6T>G c.247+6T>G p.? Pathogenic Cogan (2006)
203332237 Exon 03 Insertion/Deletion c.-5-248delTATAGGinsAC c.248-5_248delinsAC p.? Pathogenic Rosenzweig (2008)
203332241 Exon 03 Deletion IVS2_IVS3_del ex03del p.? Pathogenic Cogan (2006)
203332241 Intron 02 Splice site c.248-1G>A c.248-1G>A p.? Pathogenic Machado (2006)
203332249 Exon 03 Nonsense c.255G>A c.255G>A p.Trp85X Pathogenic Machado (2006)
203332268 Exon 03 Nonsense c.274C>T c.274C>T p.Gln92X Pathogenic Machado (2006)
203332270 Exon 03 Missense c.276A>C c.276A>C p.Gln92His Benign Machado (2006)
203332271 Exon 03 Frameshift c.277insG c.277dup p.Glu93fs Pathogenic Cogan (2006)
203332274 Exon 03 Missense c.280T>C c.280T>C p.Cys94Arg Pathogenic Machado (2006)
203332286 Exon 03 Nonsense c.292G>T c.292G>T p.Glu98X Pathogenic Wang (2009)
203332286 Exon 03 Missense c.292G>A c.292G>A p.Glu98Lys Suspected Pathogenic Wang (2010)
203332289 Exon 03 Missense c.295T>C c.295T>C p.Cys99Arg Pathogenic Machado (2006)
203332298 Exon 03 Missense c.304A>G c.304A>G p.Thr102Ala Suspected Pathogenic Roberts (2004)
203332313 Exon 03 Missense c.319T>C c.319T>C p.Ser107Pro Suspected Pathogenic Roberts (2004)
203332314 Exon 03 Nonsense c.320C>G c.320C>G p.Ser107X Pathogenic Sztrymf (2008)
203332333 Exon 03 Nonsense c.339C>G c.339C>G p.Tyr113X Pathogenic Fujiwara (2008)
203332333 Exon 03 Nonsense c.339C>A c.339C>A p.Tyr113X Pathogenic Sztrymf (2008)
203332344 Exon 03 Missense c.350G>C c.350G>C p.Cys117Ser Pathogenic Machado (2006)
203332344 Exon 03 Missense c.350G>A c.350G>A p.Cys117Tyr Pathogenic Thomson (2000)
203332347 Exon 03 Missense c.353G>A c.353G>A p.Cys118Tyr Suspected Pathogenic Machado (2006)
203332348 Exon 03 Missense c.354T>G c.354T>G p.Cys118Trp Suspected Pathogenic Lane (2000)
203332349 Exon 03 Frameshift c.355delA c.355del p.Ser119fs Pathogenic Lane (2000)
203332353 Exon 03 Frameshift c.359_360delCA 359_360del p.Thr120fs Pathogenic Machado (2006)  
203332361 Exon 03 Missense c.367T>A c.367T>A p.Cys123Ser Pathogenic Machado (2001)
203332361 Exon 03 Missense c.367T>C c.367T>C p.Cys123Arg Pathogenic Machado (2001)
203332364 Exon 03 Missense c.370A>G c.370A>G p.Asn124Asp Pathogenic Sztrymf (2008)
203332365 Exon 03 Frameshift c.371dup c.371dup p.Asn124fs Pathogenic Girerd (2010)
203332371 Exon 03 Missense c.377A>G c.377A>G p.Asn126Ser Pathogenic Girerd (2010)
203332401 Exon 03 Frameshift c.407_408del c.407_408del p.Thr136fs Pathogenic Girerd (2010)  
203332402 Exon 03 Frameshift c.408_412delAACAC c.408_412del p.Pro138fs Pathogenic Girerd (2010)  
203332414 Intron 03 Deletion/Insertion c.418+2_418+4TAA>GAG c.418+2_418+4
delinsGAG
p.? Pathogenic Morisaki (2004)
203332415 Intron 03 Splice site c.418+3A>T c.418+3A>T p.? Pathogenic Machado (2006)
203332417 Intron 03 Intronic c.418+5G>A c.418+5G>A p.? Pathogenic Rosenzweig (2008)
203378404 Intron 03 Intronic c.420-38delT c.419-38del p.? Benign Machado (2006)
203378442 Exon 04-05 Deletion ex04-05del p.? Pathogenic Cogan (2005)
203378442 Exon 04-08 Duplication dup ex4-8 ex04-08dup p.? Pathogenic Girerd (2010)  
203378442 Exon 04 Deletion ex04del p.? Pathogenic Smith (unpublished)
203378442 Exon 04-07 Deletion ex04-07del p.? Pathogenic Smith (unpublished)
203378462 Exon 04 Nonsense c.439C>T c.439C>T p.Arg147X Pathogenic Machado (2001)
203378472 Exon 04 Frameshift c.449dup c.449dup p.Ile151fs Pathogenic Girerd (2010)  
203378528 Exon 04 Frameshift 504insT (504_505insT) c.505dup p.Cys169fs Pathogenic Machado (2001)
203378530 Exon 04 Nonsense c.507-510delCTTTinsAAA c.507_510delinsAAA p.Cys169X Pathogenic Deng (2000)
203378530 Exon 04 Nonsense c.507C>A c.507C>A p.Cys169X Pathogenic Machado (2006)  
203378539 Exon 04 Nonsense c.516C>G c.516C>G p.Tyr172X Pathogenic Cogan (2006)
203378551 Exon 04 Frameshift c.528delA c.528del p.Gly177fs Pathogenic Girerd (2010)
203379611 Exon 05-07 Deletion c.530-?_967+?del ex05-07del p.? Pathogenic Harrison (2004)
203379626 Exon 05 Missense c.545G>A c.545G>A p.Gly182Asp Suspected Pathogenic Humbert (2002)
203379632 Exon 05 Frameshift c.551_573del c.551_573del p.His184fs Pathogenic Sztrymf (2008)
203379637 Exon 05 Missense c.556A>G c.556A>G p.Met186Val Suspected Pathogenic Roberts (2004)
203379664 Exon 05 Nonsense c.583G>T c.583G>T p.Glu195X Pathogenic Sztrymf (2008)
203379681 Exon 05 Synonymous c.600A>C c.600A>C p.= Benign Sankelo (2005)
203379685 Exon 05 Missense c.604A>T c.604A>T p.Asn202Tyr Suspected Pathogenic Sztrymf (2008)
203379689 Exon 05 Frameshift c.608-609delTG c.608_609del p.Leu203fs Pathogenic Wang (2009)
203379693 Exon 05 Frameshift c.612delA c.612del p.Lys204fs Pathogenic Sztrymf (2008)
203379710 Intron 05 Intronic c.621+8T>C p.? Benign dbSNP
203379739 Intron 05 Intronic c.621+37C>G p.? Benign dbSNP
203383532 Intron 05 Intronic c.622-13A>T p.? Benign dbSNP
203383545 Exon 06 Deletion del ex6 ex06del p.? Pathogenic Girerd (2010)  
203383554 Exon 06 Nonsense c.631C>T c.631C>T p.Arg211X Pathogenic Thomson (2000)
203383560 Exon 06 Nonsense c.637C>T c.637C>T p.Arg213X Pathogenic Morisaki (2004)
203383582 Exon 06 Frameshift c.659dupG c.659dup p.Ser221fs Pathogenic Machado (2006)  
203383587 Exon 06 Frameshift c.664_665delTTinsAAGG c.664_665delinsAAGG p.Leu222fs Pathogenic Machado (2006)  
203383595 Exon 06 Missense c.672G>T c.672G>T p.Glu224Asp Benign Machado (2001)
203383612 Exon 06 Frameshift c.689_690del c.689_690del p.Lys230fs Pathogenic Machado (2001)
203383613 Exon 06 Frameshift c.690-691delAGinsT c.690_691delinsT p.Lys230fs Pathogenic Deng (2000)
203383650 Exon 06 Nonsense c.727G>T c.727G>T p.Glu243X Pathogenic Machado (2001)
203383650 Exon 06 Missense c.727G>A c.727G>A p.Glu243Lys Suspected Pathogenic Wang (2010)
203383698 Exon 06 Frameshift c.775delC c.775del p.Arg259fs Pathogenic Machado (2006)
203383705 Exon 06 Frameshift c.782_783del c.782_783del p.Ile261fs Pathogenic Girerd (2010)  
203383709 Exon 06 Frameshift c.787insT (786dupT) c.786dup p.Gly263fs Pathogenic Thomson (2000)
203383713 Exon 06 Frameshift c.790delG c.790del p.Asp264fs Pathogenic Machado (2006)  
203383718 Exon 06 Missense c.795G>T+c.796A>T c.795_796delinsTT p.Glu265_Arg266
delinsAsp265_X266
Pathogenic Smith (unpublished)
203383719 Exon 06 Frameshift c.796-799delAGAG c.796_799del p.Arg266fs Pathogenic Cogan (2006)
203383720 Exon 06 Missense c.797G>C c.797G>C p.Arg266Thr Suspected Pathogenic Machado (2006)
203383725 Exon 06 Frameshift c.802-803insA c.802dup p.Thr268fs Pathogenic Wang (2010)
203383727 Exon 06 Frameshift c.804delT c.804del p.Ala269fs Pathogenic Cogan (2006)
203383741 Exon 06 Missense c.818T>G c.818T>G p.Met273Arg Suspected Benign Machado (2006)
203383753 Exon 06 Missense c.830T>C c.830T>C p.Leu277Pro Pathogenic Sztrymf (2008)
203383776 Intron 06 Splice site c.852+1G>A c.852+1G>A p.? Pathogenic Girerd (2010)
203384788 Intron 06 Intronic c.853-22del p.? Benign dbSNP
203384808 Intron 06 Splice site c.853-2A>G c.853-2A>G p.? Pathogenic Machado (2006)
203384809 Intron 06 Splice site c.853-1G>C c.853-1G>C p.? Pathogenic Sztrymf (2008)
203384810 Exon 07 Duplication 853-?_967+?dup ex07dup p.? Pathogenic Aldred (2006)
203384812 Exon 07 Frameshift c.855delA c.855del p.Ser286fs Pathogenic Machado (2006)  
203384817 Exon 07 Nonsense c.860T>A c.860T>A p.Leu287X Pathogenic Machado (2006)  
203384829 Exon 07 Nonsense c.872delT c.872del p.Leu291X Pathogenic Cogan (2006)
203384858 Exon 07 Missense c.901T>C c.901T>C p.Ser301Pro Pathogenic Machado (2006)
203384865 Exon 07 Missense c.908G>A c.908G>A p.Arg303His Suspected Pathogenic Machado (2006)
203384885 Exon 07 Nonsense c.928A>T c.928A>T p.Arg310X Pathogenic Sztrymf (2008)
203384894 Exon 07 Missense c.937G>C c.937G>C p.Ala313Pro Suspected Pathogenic Machado (2006)  
203384918 Exon 07 Nonsense c.961C>T c.961C>T p.Arg321X Pathogenic Koehler (2004)
203384924 Exon 07 Splice site c.967_968insA c.967_967+1insA p.Asp323fs Pathogenic Machado (2006)
203384929 Intron 7 Splice site c.967+5G>T c.967+5G>T p.? Pathogenic Girerd (2010)
203395515 Intron 7 Splice site c.965-2A>C c.968-2A>C p.? Pathogenic Wang (2010)
203395517 Exon 08-09 Deletion 968-?_1276+?del ex08-09del p.? Pathogenic Aldred (2006)
203395517 Exon 08 Deletion del ex8 ex08del p.? Pathogenic Girerd (2010)  
203395518 Exon 08 Frameshift c.968_969insT c.969dup p.His324fs Pathogenic Elliott (2006)
203395529 Exon 08 Frameshift c.980delC c.980del p.Pro327fs Pathogenic Machado (2006)  
203395543 Exon 08 Nonsense c.994C>T c.994C>T p.Arg332X Pathogenic Thomson (2000)
203395550 Exon 08 Nonsense c.1001T>G c.1001T>G p.Leu334X Pathogenic Machado (2006)
203395568 Exon 08 Missense c.1019T>C c.1019T>C p.Leu340Pro Pathogenic Sztrymf (2008)
203395588 Exon 08 Missense c.1039T>C c.1039T>C p.Cys347Arg Suspected Pathogenic Machado (2006)  
203395589 Exon 08 Missense c.1040G>A c.1040G>A p.Cys347Tyr Suspected Pathogenic Machado (2006)  
203395591 Exon 08 Missense c.1042G>A c.1042G>A p.Val348Ile Pathogenic Lane (2000)
203395615 Exon 08 Missense c.1066A>T c.1066A>T p.Met356Leu Suspected Pathogenic Wang (2010)
203395625 Exon 08 Frameshift 1076delC c.1076del p.Thr359fs Pathogenic Machado (2001)
203395648 Exon 08 Frameshift c.1099-1103delGGGGA c.1099_1103del p.Glu368fs Pathogenic Deng (2000)
203395656 Exon 08 Synonymous 1107A>G c.1107A>G p.= Benign Machado (2001)
203395662 Exon 08 Frameshift c.1113_1114insT c.1113dup p.Ala372fs Pathogenic Elliott (2006)
203395662 Exon 08 Frameshift c.1113delT c.1113del p.Asn371fs Pathogenic Machado (2006)  
203395669 Exon 08 Nonsense c.1120delA c.1120del p.Ile374X Pathogenic Machado (2006)
203395678 Intron 08 Splice site c.1128+1G>A c.1128+1G>A p.? Pathogenic Machado (2006)  
203395678 Intron 08 Splice site c.IVS8+1G>T c.1128+1G>T p.? (p.Asp323_Pro425del) Pathogenic Rindermann (2003)
203397305 Intron 08 Splice site c.1129-3C>G c.1129-3C>G p.? (p.Val377fs) Pathogenic Machado (2001)
203397325 Exon 09 Nonsense c.1146T>G c.1146T>G p.Tyr382X Pathogenic Rosenzweig (2008)
203397335 Exon 09 Missense c.1156G>A c.1156G>A p.Glu386Lys Suspected Pathogenic Rosenzweig (2008)
203397336 Exon 09 Missense c.1157A>T c.1157A>T p.Glu386Val Pathogenic Fu (2008)
203397336 Exon 09 Missense c.1157A>G c.1157A>G p.Glu386Gly Uncertain Koehler (2004)
203397350 Exon 09 Missense c.1171G>A c.1171G>A p.Ala391Thr Pathogenic Sztrymf (2008)
203397354 Exon 09 Missense c.1175T>C c.1175T>C p.Val392Ala Suspected Pathogenic Wang (2010)
203397370 Exon 09 Nonsense c.1191/1192delTG c.1191_1192del p.Cys397X Pathogenic Machado (2001)
203397375 Exon 09 Nonsense c.1196C>G c.1196C>G p.Ser399X Pathogenic Machado (2006)  
203397381 Exon 09 Missense c.1202T>C c.1202T>C p.Leu401Ser Suspected Pathogenic Machado (2006)  
203397386 Exon 09 Nonsense c.1207C>T c.1207C>T p.Gln403X Pathogenic Uehara (2002)
203397420 Exon 09 Nonsense c.1241G>A c.1241G>A p.Trp414X Pathogenic Machado (2006)  
203397422 Exon 09 Nonsense c.1243G>T c.1243G>T p.Gly415X Pathogenic Wang (2010)
203397424 Exon 09 Frameshift c.1246_1247dupGA c.1245_1246dup p.Ile416fs Pathogenic Machado (2006)
203397424 Exon 09 Frameshift c.1246dupG c.1245dup p.Ile416fs Pathogenic Machado (2006)  
203397426 Exon 09 Frameshift c.1247/8insGA c.1247_1248insGA p.Ile416fs Pathogenic Thomson (2000)
203397427 Exon 09 Frameshift c.1248delA c.1248del p.Phe417fs Pathogenic Thomson (2000)
203397429 Exon 09 Nonsense c.1250_1253delTTAT c.1250_1253del p.Phe417X Pathogenic Machado (2006)
203397436 Exon 09 Missense c.1257A>T c.1257A>T p.Arg419Ser Suspected Pathogenic Machado (2006)  
203397437 Exon 09 Missense c.1258T>C c.1258T>C p.Cys420Arg Pathogenic Machado (2001)
203397438 Exon 09 Missense c.1259G>A c.1259G>A p.Cys420Tyr Pathogenic Morisaki (2004)
203397453 Exon 09 Frameshift c.1272insC c.1274dup p.Gly426fs Pathogenic Machado (2006)
203397456 Exon 09 Splice site c.1276+1G>A c.1276+1G>A p.? Pathogenic Rosenzweig (2008)
203397458 Intron 9 Splice site c.1276+3A>T c.1276+3A>T p.? Pathogenic Girerd (2010)
203397458 Intron 9 Splice site c.1276+3A>G c.1276+3A>G p.? Uncertain Machado (2006)  
203397459 Intron 9 Intronic c.1276+4A>G c.1276+4A>G p.? Uncertain Machado (2006)  
203407025 Intron 9 Splice site c.1277-9A>G c.1277-9A>G p.? Pathogenic Sztrymf (2008)
203407034 Exon 10 Deletion c.1277-?_1413+?del ex10del p.? Pathogenic Cogan (2005)
203407036 Exon 10 Frameshift c.1279del p.Glu427fs Pathogenic Smith (unpublished)
203407054 Exon 10 Nonsense c.1297C>T c.1297C>T p.Gln433X Pathogenic Rigelsky (2008)
203407070 Exon 10 Frameshift c.1313-1316delCAGA c.1313_1316del p.Thr438fs Pathogenic Koehler (2004)
203407103 Exon 10 Missense c.1346T>G c.1346T>G p.Met449Arg Pathogenic Cogan (2006)
203407105 Exon 10 Nonsense c.1348C>T c.1348C>T p.Gln450X Pathogenic Koehler (2004)
203407123 Exon 10 Frameshift c.1366delinsCA c.1366delinsCA p.Glu456fs Pathogenic Girerd (2010)
203407132 Exon 10 Frameshift c.1375_1376delAG c.1375_1376del p.Arg459fs Pathogenic Morisaki (2004)
203407133 Exon 10 Frameshift c.1376_1377delGA c.1376_1377del p.Arg459fs Suspected Pathogenic Sankelo (2005)
203407146 Exon 10 Frameshift c.1388-1389insA c.1389dup p.Glu464fs Pathogenic Koehler (2004)
203407149 Exon 10 Frameshift c.1392delA c.1392del p.Ala465fs Pathogenic Sztrymf (2008)
203407154 Exon 10 Nonsense c.1397G>A c.1397G>A p.Trp466X Pathogenic Koehler (2004)
203407158 Exon 10 Frameshift c.1399delA c.1401del p.Glu468fs Pathogenic Machado (2006)
203407171 Intron 10 Splice site c.1413+1G>A c.1413+1G>A p.? Pathogenic Girerd (2010)
203407173 Intron 10 Intronic c.IVS10+3A>T c.1413+3A>T p.? Pathogenic Koehler (2004)
203417402 Intron 10 Intronic c.1414-37delT c.1414-37del p.? Benign Machado (2006)
203417437 Intron 10 Splice site c.1414-2A>T c.1414-2A>T p.? Pathogenic Machado (2006)
203417439 Exon 11-13 Deletion c.1414-?-c.3117+?del ex11-13del p.? Pathogenic Aldred (2006)
203417439 Exon 11-12 Deletion c.1414-?_2866+?del ex11-12del p.? Pathogenic Machado (2001)
203417449 Exon 11 Nonsense c.1424C>A c.1424C>A p.Ser475X Pathogenic Machado (2006)
203417451 Exon 11 Frameshift c.1426delT c.1427del p.Leu476fs Pathogenic Machado (2006)  
203417472 Exon 11 Missense c.1447T>C c.1447T>C p.Cys483Arg Pathogenic Thomson (2000)
203417479 Exon 11 Missense c.1454A>G c.1454A>G p.Asp485Gly Pathogenic Lane (2000)
203417494 Exon 11 Missense c.1469C>T c.1469C>T p.Ala490Val Pathogenic Machado (2006)
203417496 Exon 11 Missense c.1471C>T c.1471C>T p.Arg491Trp Pathogenic Deng (2000)
203417497 Exon 11 Missense c.1472G>A c.1472G>A p.Arg491Gln Suspected Pathogenic Deng (2000)
203417506 Exon 11 Missense c.1481C>T p.Ala494Val Uncertain dbSNP
203417508 Exon 11 Nonsense c.1483C>T c.1483C>T p.Gln495X Pathogenic Koehler (2004)
203417512 Exon 11 Missense c.1487G>A c.1487G>A p.Cys496Tyr Suspected Pathogenic Machado (2006)  
203417534 Exon 11 Missense c.1509A>C c.1509A>C p.Glu503Asp Suspected Pathogenic Roberts (2004)
203417560 Exon 11 Missense not given c.1535A>C p.Lys512Thr Pathogenic Machado (2001)
203417570 Exon 11 Synonymous c.1545C>T c.1545C>T p.= Benign Machado (2006)
203417610 Exon 11 Frameshift c.1585delC c.1585del p.Arg529fs Pathogenic Machado (2006)  
203419975 Exon 12 Deletion c.del3' ex12del p.? Pathogenic Machado (2001)
203419975 Exon 12 Deletion c.del3' ex12del p.? Pathogenic Trembath (2001)
203420075 Exon 12 Missense c.1687G>A c.1687G>A p.Val563Met Suspected Pathogenic Machado (2006)  
203420138 Exon 12 Nonsense c.1750C>T c.1750C>T p.Arg584X Pathogenic Machado (2001)
203420154 Exon 12 Missense c.1766A>G p.Tyr589Cys Pathogenic Moller (2010)
203420159 Exon 12 Nonsense c.1771C>T c.1771C>T p.Arg591X Pathogenic Sztrymf (2008)
203420177 Exon 12 Nonsense c.1789C>T p.Arg597X Pathogenic Smith (unpublished)
203420325 Exon 12 Missense c.1937C>G c.1937C>G p.Ala646Gly Benign Morisaki (2004)
203420342 Exon 12 Frameshift c.1954_1955dup c.1954_1955dup p.Val654fs Pathogenic Sugiyama (2004)
203420356 Exon 12 Frameshift c.1969insA c.1968dup p.Gln657fs Pathogenic Thomson (2000)
203420420 Exon 12 Missense c.2032A>G p.Lys678Glu Uncertain dbSNP
203420472 Exon 12 Missense c.2084G>T p.Gly659Val Uncertain dbSNP
203420512 Exon 12 Nonsense c.2124C>G c.2124C>G p.Tyr708X Pathogenic Morisaki (2004)
203420679 Exon 12 Frameshift c.2292dupA c.2291dup p.Asn764fs Pathogenic Machado (2001)
203420696 Exon 12 Frameshift c.2305delC c.2308del p.Arg770fs Pathogenic Rosenzweig (2008)
203420710 Exon 12 Synonymous c.2322G>A c.2322G>A p.= Benign Elliott (2006)
203420712 Exon 12 Missense c.2324G>A c.2324G>A p.Ser775Asn Benign Machado (2006)
203420767 Exon 12 Synonymous c.2379A>C c.2379A>C p.= Benign Morisaki (2004)
203420774 Exon 12 Frameshift c.2386delG c.2386del p.Ala796fs Pathogenic Thomson (2000)
203420796 Exon 12 Frameshift c.2408insTG c.2408_2409insTG p.Val804fs Pathogenic Machado (2001)
203420798 Exon 12 Frameshift c.2410_2413delGTCA c.2410_2413del p.Val804fs Pathogenic Rosenzweig (2008)
203420870 Exon 12 Missense c.2482G>A c.2482G>A p.Gly828Arg Uncertain dbSNP
203420892 Exon 12 Frameshift c.2504delC c.2504del p.Thr835fs Suspected Pathogenic Cogan (2006)
203420894 Exon 12 Missense c.2506_2522del17 c.2506_2522del p.Thr836X Pathogenic Machado (2006)  
203420909 Exon 12 Frameshift c.2521_2522dupCA c.2521_2522dup p.Arg842fs Pathogenic Sztrymf (2008)
203420909_203420910 Exon 12 Duplication c.2521_2522dupCA c.2521_2522dup p.Arg842fs Pathogenic Sztrymf (2008)
203420915 Exon 12 Frameshift c.2527delG c.2527del p.Ala843fs Pathogenic Machado (2006)
203420919 Exon 12 Missense c.2531A>G c.2531A>G p.Gln844Arg Suspected Benign Morisaki (2004)
203420968 Exon 12 Frameshift c.2579delT c.2580del p.Asn861fs Pathogenic Lane (2000)
203420976 Exon 12 Missense c.2588G>A c.2588G>A p.Ser863Asn Suspected Pathogenic Wang (2009)
203421005 Exon 12 Nonsense c.2617C>T c.2617C>T p.Arg873X Pathogenic Deng (2000)
203421006 Exon 12 Missense c.2618G>A c.2618G>A p.Arg873Gln Pathogenic Sztrymf (2008)
203421008 Exon 12 Nonsense c.2620G>T c.2620G>T p.Glu874X Pathogenic Morisaki (2004)
203421044 Exon 12 Missense c.2656C>T c.2656C>T p.Arg886Cys Suspected Benign dbSNP
203421045 Exon 12 Missense c.2657G>A c.2657G>A p.Arg886His Benign Machado (2006)
203421083 Exon 12 Nonsense c.2695C>T c.2695C>T p.Arg899X Pathogenic Lane (2000)
203421084 Exon 12 Missense c.2696G>C c.2696G>C p.Arg899Pro Pathogenic Machado (2003)
203421094 Exon 12 Frameshift c.2705delC c.2706del p.Asn903fs Suspected Pathogenic Abramowicz (2003)
203421096 Exon 12 Missense c.2708A>G c.2708A>G p.Asn903Ser Suspected Pathogenic Machado (2006)  
203421136 Exon 12 Synonymous c.2748T>C p.= Benign dbSNP
203421145 Exon 12 Synonymous c.2757T>G p.= Benign dbSNP
203421177 Exon 12 Nonsense c.2789C>G c.2789C>G p.Ser930X Pathogenic Morisaki (2004)
203421199 Exon 12 Missense c.2811G>C p.Arg937Ser Suspected Benign dbSNP
203421199 Exon 12 Synonymous c.2811G>A c.2811G>A p.= Benign Deng (2000)
203421293 Intron 12 Intronic c.2866+39T>C p.? Benign dbSNP
203424390 Intron 12 Intronic c.2867-29A>T p.? Benign dbSNP
203424439 Exon 013 Missense c.2887G>T p.Gly963Cys Uncertain dbSNP
203424500 Exon 013 Missense c.2948G>A c.2948G>A p.Arg983Gln Uncertain Morse (2002)
203424513 Exon 013 Synonymous c.2961C>T p.= Benign dbSNP