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 Indel c.*-944/5GC-AT c.-944_-943delinsAT p.? Pathogenic Aldred (2007)
203241529 5' UTR 5' UTR substitution c.G-669A c.-669G>A p.? VUS Wang (2009)
203242198 Exon 1-13 Large Deletion c.1-?_3117-?del c.1-?_3117-?del p.0? Pathogenic Aldred (2006)
203242198 Exon 1-3 Large Deletion c.deletion ex1-3 c.1-?_418+?del p.? Pathogenic Girerd (2010)
203242198 Exon 1 Large Deletion c.?_IVS1del c.1-?_76+?del p.0? Pathogenic Machado (2001)
203242198 Exon 1-4 Large Deletion c.del exon 1-4 c.1-?_529+?del p.? Pathogenic Sztrymf (2008)
203242206 Exon 1 Duplication c.9_10dup p.Leu5fs Pathogenic Smith (unpublished)
203242212 Exon 1 Deletion c.15_19delGCAGC c.15_19del p.Gln6fs Pathogenic Morisaki (2004)
203242218 Exon 1 Indel c.21_29delGCCCTGGCG
insA
c.21_29delinsA p.Pro8fs Pathogenic Machado (2006)  
203242224 Exon 1 Nonsense c.27G>A c.27G>A p.Trp9X Pathogenic Machado (2006)  
203242225 Exon 1 Missense c.28C>T c.28C>T p.Arg10Trp Uncertain Baloira (2008)
203242236 Exon 1 Nonsense c.39G>A p.Trp13X Pathogenic Hamid (2010)
203242241 Exon 1 Deletion c.44delC c.44del p.Pro15fs Pathogenic Machado (2001)
203242244 Exon 1 Nonsense c.47G>A c.47G>A p.Trp16X Pathogenic Harrison (2004)
203242245 Exon 1 Nonsense c.48G>A c.48G>A p.Trp16X Pathogenic Sztrymf (2008)
203242248 Exon 1 Large Deletion c.51-814 del c.51_814del p.Ile18fs Pathogenic Machado (2001)
203242275 Intron 1 Splice site c.76+2T>C p.? Pathogenic Smith (unpublished)
203242311 Intron 1 Intronic c.76+35delC p.? Uncertain dbSNP
203329532 Exon 2-13 Large Deletion c.77-?_3117-?del c.77-?_3117+?del p.? Pathogenic Aldred (2006)
203329532 Exon 2 Large Deletion IVS1_IVS2del c.77-?_247+?del p.? Pathogenic Cogan (2006)
203329532 Exon 2-3 Large Deletion del exon 2-3 c.77-?_418+?del p.? Pathogenic Rosenzweig (2008)
203329532_203329702 Exon 2 Large Duplication IVS1_IVS2dup c.77-?_247+?dup p.? Pathogenic Cogan (2006)
203329539 Exon 2 Synonymous c.84G>A c.84G>A p.= Benign Wang (2010)
203329541 Exon 2 Missense c.86A>G p.Asn29Ser Uncertain dbSNP
203329546 Exon 2 Nonsense c.91G>T c.91G>T p.Glu31X Pathogenic Koehler (2004)
203329555 Exon 2 Missense c.100T>C c.100T>C p.Cys34Arg Suspected Pathogenic Machado (2006)
203329571 Exon 2 Deletion c.116delC c.116del p.Pro39fs Pathogenic Rosenzweig (2008)
203329575 Exon 2 Nonsense c.120T>G c.120T>G p.Tyr40X Pathogenic Machado (2006)
203329579 Exon 2 Nonsense c.124C>T c.124C>T p.Gln42X Pathogenic Fujiwara (2008)
203329580 Exon 2 Missense c.125A>G c.125A>G p.Gln42Arg Suspected Pathogenic Roberts (2004)
203329595 Exon 2 Missense c.140G>A c.140G>A p.Gly47Asp Suspected Pathogenic Roberts (2004)
203329611 Exon 2 Deletion c.156-157delTC c.156_157del p.His53X Pathogenic Machado (2001)
203329620 Exon 2 Synonymous c.165T>C c.165T>C p.= Benign Morisaki (2004)
203329623 Exon 2 Deletion c.166delG c.168del p.Thr57fs Pathogenic Machado (2006)  
203329634 Exon 2 Missense c.179G>A c.179G>A p.Cys60Tyr Suspected Pathogenic Thomson (2000)
203329643 Exon 2 Deletion c.188-208del21 c.188_208del p.Ser64_Trp70del Pathogenic Machado (2006)
203329651 Exon 2 Missense c.196T>C c.196T>C p.Cys66Arg Pathogenic Cahn (2004)
203329652 Exon 2 Missense c.197G>A c.197G>A p.Cys66Tyr Pathogenic Machado (2006)
203329655 Exon 2 Missense c.200A>G c.200A>G p.Tyr67Cys Pathogenic Morisaki (2004)
203329656 Exon 2 Nonsense c.201T>G c.201T>G p.Tyr67X Pathogenic Rosenzweig (2008)
203329658 Exon 2 Missense c.203G>A c.203G>A p.Gly68Asp Pathogenic Machado (2006)
203329673 Exon 2 Nonsense c.218C>G c.218C>G p.Ser73X Pathogenic Lane (2000)
203329695 Exon 2 Insertion c.241insT c.240_241insT p.Lys81X Pathogenic Johri (2010)
203329699 Exon 2 Nonsense c.244C>T c.244C>T p.Gln82X Pathogenic Rindermann (2003)
203329701 Exon 2 Missense c.246A>C c.246A>C p.Gln82His Suspected Pathogenic Humbert (2002)
203329702 Exon 2 Missense c.247G>A c.247G>A p.Gly83Arg Pathogenic Sztrymf (2008)
203329703 Intron 2 Splice site c.247+1delGCAAGTG c.247+1_247+7del p.? Pathogenic Rosenzweig (2008)
203329704 Intron 2 Splice site IVS2 247+2delC c.247+2del p.? Pathogenic Cogan (2006)
203329708 Intron 2 Intronic IVS2 247+6T>G c.247+6T>G p.? Pathogenic Cogan (2006)
203332237 Exon 3 Indel c.-5-248delTATAGGinsAC c.248-5_248delinsAC p.? Pathogenic Rosenzweig (2008)
203332241 Exon 3 Large Deletion IVS2_IVS3_del c.248-?_418+?del p.? Pathogenic Cogan (2006)
203332241 Intron 2 Splice site c.248-1G>A c.248-1G>A p.? Pathogenic Machado (2006)
203332249 Exon 3 Nonsense c.255G>A c.255G>A p.Trp85X Pathogenic Machado (2006)
203332268 Exon 3 Nonsense c.274C>T c.274C>T p.Gln92X Pathogenic Machado (2006)
203332270 Exon 3 Missense c.276A>C c.276A>C p.Gln92His Benign Machado (2006)
203332271 Exon 3 Duplication c.277insG c.277dup p.Glu93fs Pathogenic Cogan (2006)
203332274 Exon 3 Missense c.280T>C c.280T>C p.Cys94Arg Pathogenic Machado (2006)
203332286 Exon 3 Nonsense c.292G>T c.292G>T p.Glu98X Pathogenic Wang (2009)
203332286 Exon 3 Missense c.292G>A c.292G>A p.Glu98Lys Suspected Pathogenic Wang (2010)
203332289 Exon 3 Missense c.295T>C c.295T>C p.Cys99Arg Pathogenic Machado (2006)
203332298 Exon 3 Missense c.304A>G c.304A>G p.Thr102Ala Suspected Pathogenic Roberts (2004)
203332313 Exon 3 Missense c.319T>C c.319T>C p.Ser107Pro Suspected Pathogenic Roberts (2004)
203332314 Exon 3 Nonsense c.320C>G c.320C>G p.Ser107X Pathogenic Sztrymf (2008)
203332333 Exon 3 Nonsense c.339C>G c.339C>G p.Tyr113X Pathogenic Fujiwara (2008)
203332333 Exon 3 Nonsense c.339C>A c.339C>A p.Tyr113X Pathogenic Sztrymf (2008)
203332344 Exon 3 Missense c.350G>C c.350G>C p.Cys117Ser Pathogenic Machado (2006)
203332344 Exon 3 Missense c.350G>A c.350G>A p.Cys117Tyr Pathogenic Thomson (2000)
203332347 Exon 3 Missense c.353G>A c.353G>A p.Cys118Tyr Suspected Pathogenic Machado (2006)
203332348 Exon 3 Missense c.354T>G c.354T>G p.Cys118Trp Suspected Pathogenic Lane (2000)
203332349 Exon 3 Deletion c.355delA c.355del p.Ser119fs Pathogenic Lane (2000)
203332353 Exon 3 Deletion c.359_360delCA 359_360del p.Thr120fs Pathogenic Machado (2006)  
203332361 Exon 3 Missense c.367T>A c.367T>A p.Cys123Ser Pathogenic Machado (2001)
203332361 Exon 3 Missense c.367T>C c.367T>C p.Cys123Arg Pathogenic Machado (2001)
203332364 Exon 3 Missense c.370A>G c.370A>G p.Asn124Asp Pathogenic Sztrymf (2008)
203332365 Exon 3 Duplication c.371dup c.371dup p.Asn124fs Pathogenic Girerd (2010)
203332371 Exon 3 Missense c.377A>G c.377A>G p.Asn126Ser Pathogenic Girerd (2010)
203332401 Exon 3 Deletion c.407_408del c.407_408del p.Thr136fs Pathogenic Girerd (2010)  
203332402 Exon 3 Deletion c.408_412delAACAC c.408_412del p.Pro138fs Pathogenic Girerd (2010)  
203332414 Intron 3 Indel c.418+2_418+4TAA>GAG c.418+2_418+4
delinsGAG
p.? Pathogenic Morisaki (2004)
203332415 Intron 3 Splice site c.418+3A>T c.418+3A>T p.? Pathogenic Machado (2006)
203332417 Intron 3 Intronic c.418+5G>A c.418+5G>A p.? Pathogenic Rosenzweig (2008)
203378404 Intron 3 Intronic c.420-38delT c.419-38del p.? Benign Machado (2006)
203378442 Exon 4-5 Large Deletion c.419-?_621+?del p.? Pathogenic Cogan (2005)
203378442 Exon 4-8 Large Duplication c.dup ex4-8 c.419-?_1128+?dup p.? Pathogenic Girerd (2010)  
203378442 Exon 4 Large Deletion c.419-?_529+?del p.? Pathogenic Smith (unpublished)
203378442 Exon 4-7 Large Deletion c.419-?_967-?del p.? Pathogenic Smith (unpublished)
203378462 Exon 4 Nonsense c.439C>T c.439C>T p.Arg147X Pathogenic Machado (2001)
203378472 Exon 4 Duplication c.449dup c.449dup p.Ile151fs Pathogenic Girerd (2010)  
203378528 Exon 4 Duplication 504insT (504_505insT) c.505dup p.Cys169fs Pathogenic Machado (2001)
203378530 Exon 4 Indel c.507-510delCTTTinsAAA c.507_510delinsAAA p.Cys169X Pathogenic Deng (2000)
203378530 Exon 4 Nonsense c.507C>A c.507C>A p.Cys169X Pathogenic Machado (2006)  
203378539 Exon 4 Nonsense c.516C>G c.516C>G p.Tyr172X Pathogenic Cogan (2006)
203378551 Exon 4 Deletion c.528delA c.528del p.Gly177fs Pathogenic Girerd (2010)
203379611 Exon 5-7 Large Deletion c.530-?_967+?del c.530-?_967+?del p.? Pathogenic Harrison (2004)
203379626 Exon 5 Missense c.545G>A c.545G>A p.Gly182Asp Suspected Pathogenic Humbert (2002)
203379632 Exon 5 Deletion c.551_573del c.551_573del p.His184fs Pathogenic Sztrymf (2008)
203379637 Exon 5 Missense c.556A>G c.556A>G p.Met186Val Suspected Pathogenic Roberts (2004)
203379664 Exon 5 Nonsense c.583G>T c.583G>T p.Glu195X Pathogenic Sztrymf (2008)
203379681 Exon 5 Synonymous c.600A>C c.600A>C p.= Benign Sankelo (2005)
203379685 Exon 5 Missense c.604A>T c.604A>T p.Asn202Tyr Suspected Pathogenic Sztrymf (2008)
203379689 Exon 5 Deletion c.608-609delTG c.608_609del p.Leu203fs Pathogenic Wang (2009)
203379693 Exon 5 Deletion c.612delA c.612del p.Lys204fs Pathogenic Sztrymf (2008)
203379710 Intron 5 Intronic c.621+8T>C p.? Benign dbSNP
203379739 Intron 5 Intronic c.621+37C>G p.? Benign dbSNP
203383532 Intron 5 Intronic c.622-13A>T p.? Benign dbSNP
203383545 Exon 6 Large Deletion c.del ex6 c.622-?_852+?del p.? Pathogenic Girerd (2010)  
203383554 Exon 6 Nonsense c.631C>T c.631C>T p.Arg211X Pathogenic Thomson (2000)
203383560 Exon 6 Nonsense c.637C>T c.637C>T p.Arg213X Pathogenic Morisaki (2004)
203383582 Exon 6 Duplication c.659dupG c.659dup p.Ser221fs Pathogenic Machado (2006)  
203383587 Exon 6 Indel c.664_665delTTinsAAGG c.664_665delinsAAGG p.Leu222fs Pathogenic Machado (2006)  
203383595 Exon 6 Missense c.672G>T c.672G>T p.Glu224Asp Benign Machado (2001)
203383612 Exon 6 Deletion c.689_690del c.689_690del p.Lys230fs Pathogenic Machado (2001)
203383613 Exon 6 Indel c.690-691delAGinsT c.690_691delinsT p.Lys230fs Pathogenic Deng (2000)
203383650 Exon 6 Nonsense c.727G>T c.727G>T p.Glu243X Pathogenic Machado (2001)
203383650 Exon 6 Missense c.727G>A c.727G>A p.Glu243Lys Suspected Pathogenic Wang (2010)
203383698 Exon 6 Deletion c.775delC c.775del p.Arg259fs Pathogenic Machado (2006)
203383705 Exon 6 Deletion c.782_783del c.782_783del p.Ile261fs Pathogenic Girerd (2010)  
203383709 Exon 6 Duplication c.787insT (786dupT) c.786dup p.Gly263fs Pathogenic Thomson (2000)
203383713 Exon 6 Deletion c.790delG c.790del p.Asp264fs Pathogenic Machado (2006)  
203383718 Exon 6 Indel c.795G>T+c.796A>T c.795_796delinsTT p.Glu265_Arg266
delinsAsp265_X266
Pathogenic Smith (unpublished)
203383719 Exon 6 Deletion c.796-799delAGAG c.796_799del p.Arg266fs Pathogenic Cogan (2006)
203383720 Exon 6 Missense c.797G>C c.797G>C p.Arg266Thr Suspected Pathogenic Machado (2006)
203383725 Exon 6 Duplication c.802-803insA c.802dup p.Thr268fs Pathogenic Wang (2010)
203383727 Exon 6 Deletion c.804delT c.804del p.Ala269fs Pathogenic Cogan (2006)
203383741 Exon 6 Missense c.818T>G c.818T>G p.Met273Arg Suspected Benign Machado (2006)
203383753 Exon 6 Missense c.830T>C c.830T>C p.Leu277Pro Pathogenic Sztrymf (2008)
203383776 Intron 6 Splice site c.852+1G>A c.852+1G>A p.? Pathogenic Girerd (2010)
203384788 Intron 6 Intronic c.853-22del p.? Benign dbSNP
203384808 Intron 6 Splice site c.853-2A>G c.853-2A>G p.? Pathogenic Machado (2006)
203384809 Intron 6 Splice site c.853-1G>C c.853-1G>C p.? Pathogenic Sztrymf (2008)
203384810 Exon 7 Large Duplication c.853-?_967+?dup c.853-?_967+?dup p.? Pathogenic Aldred (2006)
203384812 Exon 7 Deletion c.855delA c.855del p.Ser286fs Pathogenic Machado (2006)  
203384817 Exon 7 Nonsense c.860T>A c.860T>A p.Leu287X Pathogenic Machado (2006)  
203384829 Exon 7 Deletion c.872delT c.872del p.Leu291X Pathogenic Cogan (2006)
203384858 Exon 7 Missense c.901T>C c.901T>C p.Ser301Pro Pathogenic Machado (2006)
203384865 Exon 7 Missense c.908G>A c.908G>A p.Arg303His Suspected Pathogenic Machado (2006)
203384885 Exon 7 Nonsense c.928A>T c.928A>T p.Arg310X Pathogenic Sztrymf (2008)
203384894 Exon 7 Missense c.937G>C c.937G>C p.Ala313Pro Suspected Pathogenic Machado (2006)  
203384918 Exon 7 Nonsense c.961C>T c.961C>T p.Arg321X Pathogenic Koehler (2004)
203384924 Exon 7 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 8-9 Large Deletion c.968-?_1276+?del c.968-?_1276+?del p.? Pathogenic Aldred (2006)
203395517 Exon 8 Large Deletion c.del ex8 c.968-?_1128+?del p.? Pathogenic Girerd (2010)  
203395518 Exon 8 Duplication c.968_969insT c.969dup p.His324fs Pathogenic Elliott (2006)
203395529 Exon 8 Deletion c.980delC c.980del p.Pro327fs Pathogenic Machado (2006)  
203395543 Exon 8 Nonsense c.994C>T c.994C>T p.Arg332X Pathogenic Thomson (2000)
203395550 Exon 8 Nonsense c.1001T>G c.1001T>G p.Leu334X Pathogenic Machado (2006)
203395568 Exon 8 Missense c.1019T>C c.1019T>C p.Leu340Pro Pathogenic Sztrymf (2008)
203395588 Exon 8 Missense c.1039T>C c.1039T>C p.Cys347Arg Suspected Pathogenic Machado (2006)  
203395589 Exon 8 Missense c.1040G>A c.1040G>A p.Cys347Tyr Suspected Pathogenic Machado (2006)  
203395591 Exon 8 Missense c.1042G>A c.1042G>A p.Val348Ile Pathogenic Lane (2000)
203395615 Exon 8 Missense c.1066A>T c.1066A>T p.Met356Leu Suspected Pathogenic Wang (2010)
203395625 Exon 8 Deletion 1076delC c.1076del p.Thr359fs Pathogenic Machado (2001)
203395648 Exon 8 Deletion c.1099-1103delGGGGA c.1099_1103del p.Glu368fs Pathogenic Deng (2000)
203395656 Exon 8 Synonymous 1107A>G c.1107A>G p.= Benign Machado (2001)
203395662 Exon 8 Duplication c.1113_1114insT c.1113dup p.Ala372fs Pathogenic Elliott (2006)
203395662 Exon 8 Deletion c.1113delT c.1113del p.Asn371fs Pathogenic Machado (2006)  
203395669 Exon 8 Deletion c.1120delA c.1120del p.Ile374X Pathogenic Machado (2006)
203395678 Intron 8 Splice site c.1128+1G>A c.1128+1G>A p.? Pathogenic Machado (2006)  
203395678 Exon 8 Splice site c.IVS8+1G>T c.1128+1G>T p.? (p.Asp323_Pro425del) Pathogenic Rindermann (2003)
203397305 Intron 8 Splice site c.1129-3C>G c.1129-3C>G p.? (p.Val377fs) Pathogenic Machado (2001)
203397325 Exon 9 Nonsense c.1146T>G c.1146T>G p.Tyr382X Pathogenic Rosenzweig (2008)
203397335 Exon 9 Missense c.1156G>A c.1156G>A p.Glu386Lys Suspected Pathogenic Rosenzweig (2008)
203397336 Exon 9 Missense c.1157A>T c.1157A>T p.Glu386Val Pathogenic Fu (2008)
203397336 Exon 9 Missense c.1157A>G c.1157A>G p.Glu386Gly Uncertain Koehler (2004)
203397350 Exon 9 Missense c.1171G>A c.1171G>A p.Ala391Thr Pathogenic Sztrymf (2008)
203397354 Exon 9 Missense c.1175T>C c.1175T>C p.Val392Ala Suspected Pathogenic Wang (2010)
203397370 Exon 9 Deletion c.1191/1192delTG c.1191_1192del p.Cys397X Pathogenic Machado (2001)
203397375 Exon 9 Nonsense c.1196C>G c.1196C>G p.Ser399X Pathogenic Machado (2006)  
203397381 Exon 9 Missense c.1202T>C c.1202T>C p.Leu401Ser Suspected Pathogenic Machado (2006)  
203397386 Exon 9 Nonsense c.1207C>T c.1207C>T p.Gln403X Pathogenic Uehara (2002)
203397420 Exon 9 Nonsense c.1241G>A c.1241G>A p.Trp414X Pathogenic Machado (2006)  
203397422 Exon 9 Nonsense c.1243G>T c.1243G>T p.Gly415X Pathogenic Wang (2010)
203397424 Exon 9 Duplication c.1246_1247dupGA c.1245_1246dup p.Ile416fs Pathogenic Machado (2006)
203397424 Exon 9 Duplication c.1246dupG c.1245dup p.Ile416fs Pathogenic Machado (2006)  
203397426 Exon 9 Insertion c.1247/8insGA c.1247_1248insGA p.Ile416fs Pathogenic Thomson (2000)
203397427 Exon 9 Deletion c.1248delA c.1248del p.Phe417fs Pathogenic Thomson (2000)
203397429 Exon 9 Deletion c.1250_1253delTTAT c.1250_1253del p.Phe417X Pathogenic Machado (2006)
203397436 Exon 9 Missense c.1257A>T c.1257A>T p.Arg419Ser Suspected Pathogenic Machado (2006)  
203397437 Exon 9 Missense c.1258T>C c.1258T>C p.Cys420Arg Pathogenic Machado (2001)
203397438 Exon 9 Missense c.1259G>A c.1259G>A p.Cys420Tyr Pathogenic Morisaki (2004)
203397453 Exon 9 Duplication c.1272insC c.1274dup p.Gly426fs Pathogenic Machado (2006)
203397456 Exon 9 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 Large Deletion c.1277-?_1413+?del c.1277-?_1413+?del p.? Pathogenic Cogan (2005)
203407036 Exon 10 Deletion 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 Deletion 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 Indel c.1366delinsCA c.1366delinsCA p.Glu456fs Pathogenic Girerd (2010)
203407132 Exon 10 Deletion c.1375_1376delAG c.1375_1376del p.Arg459fs Pathogenic Morisaki (2004)
203407133 Exon 10 Deletion c.1376_1377delGA c.1376_1377del p.Arg459fs Suspected Pathogenic Sankelo (2005)
203407146 Exon 10 Duplication c.1388-1389insA c.1389dup p.Glu464fs Pathogenic Koehler (2004)
203407149 Exon 10 Deletion 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 Deletion 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 Large Deletion c.1414-?-c.3117+?del c.1414-?-3117+?del p.? Pathogenic Aldred (2006)
203417439 Exon 11-12 Large Deletion c.1414-?_2866+?del c.1414-?_2866+?del p.? Pathogenic Machado (2001)
203417449 Exon 11 Nonsense c.1424C>A c.1424C>A p.Ser475X Pathogenic Machado (2006)
203417451 Exon 11 Deletion 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 Pathogenic Deng (2000)
203417497 Exon 11 Missense c.1472G>A p.Arg491Gln Suspected Pathogenic Machado (2005)
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 Deletion c.1585delC c.1585del p.Arg529fs Pathogenic Machado (2006)  
203419975 Exon 12 Large Deletion c.del3' c.1587-?_2866+?del p.? Pathogenic Machado (2001)
203419975 Exon 12 Deletion c.del3' c.1587-?_2866+?del 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 Duplication c.1954_1955dup c.1954_1955dup p.Val654fs Pathogenic Sugiyama (2004)
203420356 Exon 12 Duplication 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 Duplication c.2292dupA c.2291dup p.Asn764fs Pathogenic Machado (2001)
203420696 Exon 12 Deletion 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 Deletion c.2386delG c.2386del p.Ala796fs Pathogenic Thomson (2000)
203420796_203420797 Exon 12 Insertion c.2408insTG c.2408_2409insTG p.Val804fs Pathogenic Machado (2001)
203420798_203420801 Exon 12 Deletion 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 Deletion c.2504delC c.2504del p.Thr835fs Suspected Pathogenic Cogan (2006)
203420894_203420910 Exon 12 Deletion c.2506_2522del17 c.2506_2522del p.Thr836X Pathogenic Machado (2006)  
203420909_203420910 Exon 12 Duplication c.2521_2522dupCA c.2521_2522dup p.Arg842fs Pathogenic Sztrymf (2008)
203420915 Exon 12 Deletion 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 Deletion 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 Deletion 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 13 Missense c.2887G>T p.Gly963Cys Uncertain dbSNP
203424500 Exon 13 Missense c.2948G>A c.2948G>A p.Arg983Gln Uncertain Morse (2002)
203424513 Exon 13 Synonymous c.2961C>T p.= Benign dbSNP