Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13829517_13829529delinsGAAAGCTGCTCCT | CA1528458053 | DNAH5 | n.1356_1368delinsAGGAGCAGCTTTC c.6425_6437delinsAGGAGCAGCTTTC (p.Glu2142=) c.6380_6392delinsAGGAGCAGCTTTC (p.Glu2127=) n.6632_6644delinsAGGAGCAGCTTTC c.6533_6545delinsAGGAGCAGCTTTC (p.Glu2178=) c.5438_5450delinsAGGAGCAGCTTTC (p.Glu1813=) c.1622_1634delinsAGGAGCAGCTTTC (p.Glu541=) c.1175_1187delinsAGGAGCAGCTTTC (p.Glu392=) c.512_524delinsAGGAGCAGCTTTC (p.Glu171=) c.5027_5039delinsAGGAGCAGCTTTC (p.Glu1676=) n.6550_6562delinsAGGAGCAGCTTTC | |
5 | g.13829518_13829529del | CA1528458054 | DNAH5 | n.1356_1367del c.6425_6436del (p.Glu2142_Ser2146delinsAla) c.6380_6391del (p.Glu2127_Ser2131delinsAla) n.6632_6643del c.6533_6544del (p.Glu2178_Ser2182delinsAla) c.5438_5449del (p.Glu1813_Ser1817delinsAla) c.1622_1633del (p.Glu541_Ser545delinsAla) c.1175_1186del (p.Glu392_Ser396delinsAla) c.512_523del (p.Glu171_Ser175delinsAla) c.5027_5038del (p.Glu1676_Ser1680delinsAla) n.6550_6561del | dbSNP |
5 | g.13829528_13829530dup | CA1528458059 | DNAH5 | n.1358_1360dup c.6427_6429dup (p.Glu2143_Gln2144insGlu) c.6382_6384dup (p.Glu2128_Gln2129insGlu) n.6634_6636dup c.6535_6537dup (p.Glu2179_Gln2180insGlu) c.5440_5442dup (p.Glu1814_Gln1815insGlu) c.1624_1626dup (p.Glu542_Gln543insGlu) c.1177_1179dup (p.Glu393_Gln394insGlu) c.514_516dup (p.Glu172_Gln173insGlu) c.5029_5031dup (p.Glu1677_Gln1678insGlu) n.6552_6554dup | dbSNP |
5 | g.13829528C>A | CA359199409 | DNAH5 | n.1357G>T c.6426G>T (p.Glu2142Asp) c.6381G>T (p.Glu2127Asp) n.6633G>T c.6534G>T (p.Glu2178Asp) c.5439G>T (p.Glu1813Asp) c.1623G>T (p.Glu541Asp) c.1176G>T (p.Glu392Asp) c.513G>T (p.Glu171Asp) c.5028G>T (p.Glu1676Asp) n.6551G>T | |
5 | g.13829528C= | CA1528458062 | DNAH5 | n.1357G= c.6426G= (p.Glu2142=) c.6381G= (p.Glu2127=) n.6633G= c.6534G= (p.Glu2178=) c.5439G= (p.Glu1813=) c.1623G= (p.Glu541=) c.1176G= (p.Glu392=) c.513G= (p.Glu171=) c.5028G= (p.Glu1676=) n.6551G= | |
5 | g.13829528C>G | CA359199410 | DNAH5 | n.1357G>C c.6426G>C (p.Glu2142Asp) c.6381G>C (p.Glu2127Asp) n.6633G>C c.6534G>C (p.Glu2178Asp) c.5439G>C (p.Glu1813Asp) c.1623G>C (p.Glu541Asp) c.1176G>C (p.Glu392Asp) c.513G>C (p.Glu171Asp) c.5028G>C (p.Glu1676Asp) n.6551G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829528C>T | CA443251341 | DNAH5 | n.1357G>A c.6426G>A (p.Glu2142=) c.6381G>A (p.Glu2127=) n.6633G>A c.6534G>A (p.Glu2178=) c.5439G>A (p.Glu1813=) c.1623G>A (p.Glu541=) c.1176G>A (p.Glu392=) c.513G>A (p.Glu171=) c.5028G>A (p.Glu1676=) n.6551G>A | COSMIC |
5 | g.13829529T>A | CA359199417 | DNAH5 | n.1356A>T c.6425A>T (p.Glu2142Val) c.6380A>T (p.Glu2127Val) n.6632A>T c.6533A>T (p.Glu2178Val) c.5438A>T (p.Glu1813Val) c.1622A>T (p.Glu541Val) c.1175A>T (p.Glu392Val) c.512A>T (p.Glu171Val) c.5027A>T (p.Glu1676Val) n.6550A>T | |
5 | g.13829529T>C | CA359199412 | DNAH5 | n.1356A>G c.6425A>G (p.Glu2142Gly) c.6380A>G (p.Glu2127Gly) n.6632A>G c.6533A>G (p.Glu2178Gly) c.5438A>G (p.Glu1813Gly) c.1622A>G (p.Glu541Gly) c.1175A>G (p.Glu392Gly) c.512A>G (p.Glu171Gly) c.5027A>G (p.Glu1676Gly) n.6550A>G | gnomAD v4 |
5 | g.13829529T>G | CA359199415 | DNAH5 | n.1356A>C c.6425A>C (p.Glu2142Ala) c.6380A>C (p.Glu2127Ala) n.6632A>C c.6533A>C (p.Glu2178Ala) c.5438A>C (p.Glu1813Ala) c.1622A>C (p.Glu541Ala) c.1175A>C (p.Glu392Ala) c.512A>C (p.Glu171Ala) c.5027A>C (p.Glu1676Ala) n.6550A>C | |
5 | g.13829529_13829531delinsTCA | CA1528458063 | DNAH5 | n.1354_1356delinsTGA c.6423_6425delinsTGA (p.Cys2141=) c.6378_6380delinsTGA (p.Cys2126=) n.6630_6632delinsTGA c.6531_6533delinsTGA (p.Cys2177=) c.5436_5438delinsTGA (p.Cys1812=) c.1620_1622delinsTGA (p.Cys540=) c.1173_1175delinsTGA (p.Cys391=) c.510_512delinsTGA (p.Cys170=) c.5025_5027delinsTGA (p.Cys1675=) n.6548_6550delinsTGA | |
5 | g.13829530C>A | CA359199426 | DNAH5 | n.1355G>T c.6424G>T (p.Glu2142Ter) c.6379G>T (p.Glu2127Ter) n.6631G>T c.6532G>T (p.Glu2178Ter) c.5437G>T (p.Glu1813Ter) c.1621G>T (p.Glu541Ter) c.1174G>T (p.Glu392Ter) c.511G>T (p.Glu171Ter) c.5026G>T (p.Glu1676Ter) n.6549G>T | |
5 | g.13829530C>G | CA359199427 | DNAH5 | n.1355G>C c.6424G>C (p.Glu2142Gln) c.6379G>C (p.Glu2127Gln) n.6631G>C c.6532G>C (p.Glu2178Gln) c.5437G>C (p.Glu1813Gln) c.1621G>C (p.Glu541Gln) c.1174G>C (p.Glu392Gln) c.511G>C (p.Glu171Gln) c.5026G>C (p.Glu1676Gln) n.6549G>C | |
5 | g.13829530C>T | CA359199431 | DNAH5 | n.1355G>A c.6424G>A (p.Glu2142Lys) c.6379G>A (p.Glu2127Lys) n.6631G>A c.6532G>A (p.Glu2178Lys) c.5437G>A (p.Glu1813Lys) c.1621G>A (p.Glu541Lys) c.1174G>A (p.Glu392Lys) c.511G>A (p.Glu171Lys) c.5026G>A (p.Glu1676Lys) n.6549G>A | |
5 | g.13829534_13829535del | CA915943293 | DNAH5 | n.1354_1355del c.6423_6424del (p.Cys2141Ter) c.6378_6379del (p.Cys2126Ter) n.6630_6631del c.6531_6532del (p.Cys2177Ter) c.5436_5437del (p.Cys1812Ter) c.1620_1621del (p.Cys540Ter) c.1173_1174del (p.Cys391Ter) c.510_511del (p.Cys170Ter) c.5025_5026del (p.Cys1675Ter) n.6548_6549del | ClinVar dbSNP gnomAD v4 |
5 | g.13829531A>C | CA359199437 | DNAH5 | n.1354T>G c.6423T>G (p.Cys2141Trp) c.6378T>G (p.Cys2126Trp) n.6630T>G c.6531T>G (p.Cys2177Trp) c.5436T>G (p.Cys1812Trp) c.1620T>G (p.Cys540Trp) c.1173T>G (p.Cys391Trp) c.510T>G (p.Cys170Trp) c.5025T>G (p.Cys1675Trp) n.6548T>G | |
5 | g.13829531A>G | CA443251346 | DNAH5 | n.1354T>C c.6423T>C (p.Cys2141=) c.6378T>C (p.Cys2126=) n.6630T>C c.6531T>C (p.Cys2177=) c.5436T>C (p.Cys1812=) c.1620T>C (p.Cys540=) c.1173T>C (p.Cys391=) c.510T>C (p.Cys170=) c.5025T>C (p.Cys1675=) n.6548T>C | |
5 | g.13829531A>T | CA359199442 | DNAH5 | n.1354T>A c.6423T>A (p.Cys2141Ter) c.6378T>A (p.Cys2126Ter) n.6630T>A c.6531T>A (p.Cys2177Ter) c.5436T>A (p.Cys1812Ter) c.1620T>A (p.Cys540Ter) c.1173T>A (p.Cys391Ter) c.510T>A (p.Cys170Ter) c.5025T>A (p.Cys1675Ter) n.6548T>A | |
5 | g.13829532C>A | CA3203411 | DNAH5 | n.1353G>T c.6422G>T (p.Cys2141Phe) c.6377G>T (p.Cys2126Phe) n.6629G>T c.6530G>T (p.Cys2177Phe) c.5435G>T (p.Cys1812Phe) c.1619G>T (p.Cys540Phe) c.1172G>T (p.Cys391Phe) c.509G>T (p.Cys170Phe) c.5024G>T (p.Cys1675Phe) n.6547G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829532C= | CA1528458064 | DNAH5 | n.1353G= c.6422G= (p.Cys2141=) c.6377G= (p.Cys2126=) n.6629G= c.6530G= (p.Cys2177=) c.5435G= (p.Cys1812=) c.1619G= (p.Cys540=) c.1172G= (p.Cys391=) c.509G= (p.Cys170=) c.5024G= (p.Cys1675=) n.6547G= | |
5 | g.13829532C>G | CA359199447 | DNAH5 | n.1353G>C c.6422G>C (p.Cys2141Ser) c.6377G>C (p.Cys2126Ser) n.6629G>C c.6530G>C (p.Cys2177Ser) c.5435G>C (p.Cys1812Ser) c.1619G>C (p.Cys540Ser) c.1172G>C (p.Cys391Ser) c.509G>C (p.Cys170Ser) c.5024G>C (p.Cys1675Ser) n.6547G>C | |
5 | g.13829532C>T | CA113937609 | DNAH5 | n.1353G>A c.6422G>A (p.Cys2141Tyr) c.6377G>A (p.Cys2126Tyr) n.6629G>A c.6530G>A (p.Cys2177Tyr) c.5435G>A (p.Cys1812Tyr) c.1619G>A (p.Cys540Tyr) c.1172G>A (p.Cys391Tyr) c.509G>A (p.Cys170Tyr) c.5024G>A (p.Cys1675Tyr) n.6547G>A | dbSNP |
5 | g.13829533A>C | CA359199476 | DNAH5 | n.1352T>G c.6421T>G (p.Cys2141Gly) c.6376T>G (p.Cys2126Gly) n.6628T>G c.6529T>G (p.Cys2177Gly) c.5434T>G (p.Cys1812Gly) c.1618T>G (p.Cys540Gly) c.1171T>G (p.Cys391Gly) c.508T>G (p.Cys170Gly) c.5023T>G (p.Cys1675Gly) n.6546T>G | |
5 | g.13829533A>G | CA359199486 | DNAH5 | n.1352T>C c.6421T>C (p.Cys2141Arg) c.6376T>C (p.Cys2126Arg) n.6628T>C c.6529T>C (p.Cys2177Arg) c.5434T>C (p.Cys1812Arg) c.1618T>C (p.Cys540Arg) c.1171T>C (p.Cys391Arg) c.508T>C (p.Cys170Arg) c.5023T>C (p.Cys1675Arg) n.6546T>C | |
5 | g.13829533A>T | CA359199487 | DNAH5 | n.1352T>A c.6421T>A (p.Cys2141Ser) c.6376T>A (p.Cys2126Ser) n.6628T>A c.6529T>A (p.Cys2177Ser) c.5434T>A (p.Cys1812Ser) c.1618T>A (p.Cys540Ser) c.1171T>A (p.Cys391Ser) c.508T>A (p.Cys170Ser) c.5023T>A (p.Cys1675Ser) n.6546T>A | |
5 | g.13829534C>A | CA443251350 | DNAH5 | n.1351G>T c.6420G>T (p.Leu2140=) c.6375G>T (p.Leu2125=) n.6627G>T c.6528G>T (p.Leu2176=) c.5433G>T (p.Leu1811=) c.1617G>T (p.Leu539=) c.1170G>T (p.Leu390=) c.507G>T (p.Leu169=) c.5022G>T (p.Leu1674=) n.6545G>T | ClinVar dbSNP |
5 | g.13829534C>G | CA443251351 | DNAH5 | n.1351G>C c.6420G>C (p.Leu2140=) c.6375G>C (p.Leu2125=) n.6627G>C c.6528G>C (p.Leu2176=) c.5433G>C (p.Leu1811=) c.1617G>C (p.Leu539=) c.1170G>C (p.Leu390=) c.507G>C (p.Leu169=) c.5022G>C (p.Leu1674=) n.6545G>C | |
5 | g.13829534C>T | CA443251352 | DNAH5 | n.1351G>A c.6420G>A (p.Leu2140=) c.6375G>A (p.Leu2125=) n.6627G>A c.6528G>A (p.Leu2176=) c.5433G>A (p.Leu1811=) c.1617G>A (p.Leu539=) c.1170G>A (p.Leu390=) c.507G>A (p.Leu169=) c.5022G>A (p.Leu1674=) n.6545G>A | gnomAD v4 |
5 | g.13829535A= | CA1528458065 | DNAH5 | n.1350T= c.6419T= (p.Leu2140=) c.6374T= (p.Leu2125=) n.6626T= c.6527T= (p.Leu2176=) c.5432T= (p.Leu1811=) c.1616T= (p.Leu539=) c.1169T= (p.Leu390=) c.506T= (p.Leu169=) c.5021T= (p.Leu1674=) n.6544T= | |
5 | g.13829535A>C | CA359199488 | DNAH5 | n.1350T>G c.6419T>G (p.Leu2140Arg) c.6374T>G (p.Leu2125Arg) n.6626T>G c.6527T>G (p.Leu2176Arg) c.5432T>G (p.Leu1811Arg) c.1616T>G (p.Leu539Arg) c.1169T>G (p.Leu390Arg) c.506T>G (p.Leu169Arg) c.5021T>G (p.Leu1674Arg) n.6544T>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829535A>G | CA359199494 | DNAH5 | n.1350T>C c.6419T>C (p.Leu2140Pro) c.6374T>C (p.Leu2125Pro) n.6626T>C c.6527T>C (p.Leu2176Pro) c.5432T>C (p.Leu1811Pro) c.1616T>C (p.Leu539Pro) c.1169T>C (p.Leu390Pro) c.506T>C (p.Leu169Pro) c.5021T>C (p.Leu1674Pro) n.6544T>C | gnomAD v4 |
5 | g.13829535A>T | CA359199489 | DNAH5 | n.1350T>A c.6419T>A (p.Leu2140Gln) c.6374T>A (p.Leu2125Gln) n.6626T>A c.6527T>A (p.Leu2176Gln) c.5432T>A (p.Leu1811Gln) c.1616T>A (p.Leu539Gln) c.1169T>A (p.Leu390Gln) c.506T>A (p.Leu169Gln) c.5021T>A (p.Leu1674Gln) n.6544T>A | |
5 | g.13829536G>A | CA443251354 | DNAH5 | n.1349C>T c.6418C>T (p.Leu2140=) c.6373C>T (p.Leu2125=) n.6625C>T c.6526C>T (p.Leu2176=) c.5431C>T (p.Leu1811=) c.1615C>T (p.Leu539=) c.1168C>T (p.Leu390=) c.505C>T (p.Leu169=) c.5020C>T (p.Leu1674=) n.6543C>T | gnomAD v4 |
5 | g.13829536G>C | CA359199500 | DNAH5 | n.1349C>G c.6418C>G (p.Leu2140Val) c.6373C>G (p.Leu2125Val) n.6625C>G c.6526C>G (p.Leu2176Val) c.5431C>G (p.Leu1811Val) c.1615C>G (p.Leu539Val) c.1168C>G (p.Leu390Val) c.505C>G (p.Leu169Val) c.5020C>G (p.Leu1674Val) n.6543C>G | |
5 | g.13829536G>T | CA359199502 | DNAH5 | n.1349C>A c.6418C>A (p.Leu2140Met) c.6373C>A (p.Leu2125Met) n.6625C>A c.6526C>A (p.Leu2176Met) c.5431C>A (p.Leu1811Met) c.1615C>A (p.Leu539Met) c.1168C>A (p.Leu390Met) c.505C>A (p.Leu169Met) c.5020C>A (p.Leu1674Met) n.6543C>A | |
5 | g.13829537T>A | CA359199507 | DNAH5 | n.1348A>T c.6417A>T (p.Lys2139Asn) c.6372A>T (p.Lys2124Asn) n.6624A>T c.6525A>T (p.Lys2175Asn) c.5430A>T (p.Lys1810Asn) c.1614A>T (p.Lys538Asn) c.1167A>T (p.Lys389Asn) c.504A>T (p.Lys168Asn) c.5019A>T (p.Lys1673Asn) n.6542A>T | |
5 | g.13829537T>C | CA443251357 | DNAH5 | n.1348A>G c.6417A>G (p.Lys2139=) c.6372A>G (p.Lys2124=) n.6624A>G c.6525A>G (p.Lys2175=) c.5430A>G (p.Lys1810=) c.1614A>G (p.Lys538=) c.1167A>G (p.Lys389=) c.504A>G (p.Lys168=) c.5019A>G (p.Lys1673=) n.6542A>G | |
5 | g.13829537T>G | CA359199511 | DNAH5 | n.1348A>C c.6417A>C (p.Lys2139Asn) c.6372A>C (p.Lys2124Asn) n.6624A>C c.6525A>C (p.Lys2175Asn) c.5430A>C (p.Lys1810Asn) c.1614A>C (p.Lys538Asn) c.1167A>C (p.Lys389Asn) c.504A>C (p.Lys168Asn) c.5019A>C (p.Lys1673Asn) n.6542A>C | |
5 | g.13829538T>A | CA359199517 | DNAH5 | n.1347A>T c.6416A>T (p.Lys2139Ile) c.6371A>T (p.Lys2124Ile) n.6623A>T c.6524A>T (p.Lys2175Ile) c.5429A>T (p.Lys1810Ile) c.1613A>T (p.Lys538Ile) c.1166A>T (p.Lys389Ile) c.503A>T (p.Lys168Ile) c.5018A>T (p.Lys1673Ile) n.6541A>T | |
5 | g.13829538T>C | CA3203412 | DNAH5 | n.1347A>G c.6416A>G (p.Lys2139Arg) c.6371A>G (p.Lys2124Arg) n.6623A>G c.6524A>G (p.Lys2175Arg) c.5429A>G (p.Lys1810Arg) c.1613A>G (p.Lys538Arg) c.1166A>G (p.Lys389Arg) c.503A>G (p.Lys168Arg) c.5018A>G (p.Lys1673Arg) n.6541A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829538T>G | CA359199522 | DNAH5 | n.1347A>C c.6416A>C (p.Lys2139Thr) c.6371A>C (p.Lys2124Thr) n.6623A>C c.6524A>C (p.Lys2175Thr) c.5429A>C (p.Lys1810Thr) c.1613A>C (p.Lys538Thr) c.1166A>C (p.Lys389Thr) c.503A>C (p.Lys168Thr) c.5018A>C (p.Lys1673Thr) n.6541A>C | |
5 | g.13829538T= | CA1528458066 | DNAH5 | n.1347A= c.6416A= (p.Lys2139=) c.6371A= (p.Lys2124=) n.6623A= c.6524A= (p.Lys2175=) c.5429A= (p.Lys1810=) c.1613A= (p.Lys538=) c.1166A= (p.Lys389=) c.503A= (p.Lys168=) c.5018A= (p.Lys1673=) n.6541A= | |
5 | g.13829539T>A | CA359199542 | DNAH5 | n.1346A>T c.6415A>T (p.Lys2139Ter) c.6370A>T (p.Lys2124Ter) n.6622A>T c.6523A>T (p.Lys2175Ter) c.5428A>T (p.Lys1810Ter) c.1612A>T (p.Lys538Ter) c.1165A>T (p.Lys389Ter) c.502A>T (p.Lys168Ter) c.5017A>T (p.Lys1673Ter) n.6540A>T | |
5 | g.13829539T>C | CA359199530 | DNAH5 | n.1346A>G c.6415A>G (p.Lys2139Glu) c.6370A>G (p.Lys2124Glu) n.6622A>G c.6523A>G (p.Lys2175Glu) c.5428A>G (p.Lys1810Glu) c.1612A>G (p.Lys538Glu) c.1165A>G (p.Lys389Glu) c.502A>G (p.Lys168Glu) c.5017A>G (p.Lys1673Glu) n.6540A>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829539T>G | CA359199536 | DNAH5 | n.1346A>C c.6415A>C (p.Lys2139Gln) c.6370A>C (p.Lys2124Gln) n.6622A>C c.6523A>C (p.Lys2175Gln) c.5428A>C (p.Lys1810Gln) c.1612A>C (p.Lys538Gln) c.1165A>C (p.Lys389Gln) c.502A>C (p.Lys168Gln) c.5017A>C (p.Lys1673Gln) n.6540A>C | |
5 | g.13829539T= | CA1528458067 | DNAH5 | n.1346A= c.6415A= (p.Lys2139=) c.6370A= (p.Lys2124=) n.6622A= c.6523A= (p.Lys2175=) c.5428A= (p.Lys1810=) c.1612A= (p.Lys538=) c.1165A= (p.Lys389=) c.502A= (p.Lys168=) c.5017A= (p.Lys1673=) n.6540A= | |
5 | g.13829540G>A | CA443251359 | DNAH5 | n.1345C>T c.6414C>T (p.Tyr2138=) c.6369C>T (p.Tyr2123=) n.6621C>T c.6522C>T (p.Tyr2174=) c.5427C>T (p.Tyr1809=) c.1611C>T (p.Tyr537=) c.1164C>T (p.Tyr388=) c.501C>T (p.Tyr167=) c.5016C>T (p.Tyr1672=) n.6539C>T | ClinVar dbSNP |
5 | g.13829540G>C | CA359199550 | DNAH5 | n.1345C>G c.6414C>G (p.Tyr2138Ter) c.6369C>G (p.Tyr2123Ter) n.6621C>G c.6522C>G (p.Tyr2174Ter) c.5427C>G (p.Tyr1809Ter) c.1611C>G (p.Tyr537Ter) c.1164C>G (p.Tyr388Ter) c.501C>G (p.Tyr167Ter) c.5016C>G (p.Tyr1672Ter) n.6539C>G | |
5 | g.13829540G>T | CA359199552 | DNAH5 | n.1345C>A c.6414C>A (p.Tyr2138Ter) c.6369C>A (p.Tyr2123Ter) n.6621C>A c.6522C>A (p.Tyr2174Ter) c.5427C>A (p.Tyr1809Ter) c.1611C>A (p.Tyr537Ter) c.1164C>A (p.Tyr388Ter) c.501C>A (p.Tyr167Ter) c.5016C>A (p.Tyr1672Ter) n.6539C>A | |
5 | g.13829541T>A | CA359199557 | DNAH5 | n.1344A>T c.6413A>T (p.Tyr2138Phe) c.6368A>T (p.Tyr2123Phe) n.6620A>T c.6521A>T (p.Tyr2174Phe) c.5426A>T (p.Tyr1809Phe) c.1610A>T (p.Tyr537Phe) c.1163A>T (p.Tyr388Phe) c.500A>T (p.Tyr167Phe) c.5015A>T (p.Tyr1672Phe) n.6538A>T | gnomAD v4 |
5 | g.13829541T>C | CA3203413 | DNAH5 | n.1344A>G c.6413A>G (p.Tyr2138Cys) c.6368A>G (p.Tyr2123Cys) n.6620A>G c.6521A>G (p.Tyr2174Cys) c.5426A>G (p.Tyr1809Cys) c.1610A>G (p.Tyr537Cys) c.1163A>G (p.Tyr388Cys) c.500A>G (p.Tyr167Cys) c.5015A>G (p.Tyr1672Cys) n.6538A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829541T>G | CA359199574 | DNAH5 | n.1344A>C c.6413A>C (p.Tyr2138Ser) c.6368A>C (p.Tyr2123Ser) n.6620A>C c.6521A>C (p.Tyr2174Ser) c.5426A>C (p.Tyr1809Ser) c.1610A>C (p.Tyr537Ser) c.1163A>C (p.Tyr388Ser) c.500A>C (p.Tyr167Ser) c.5015A>C (p.Tyr1672Ser) n.6538A>C | |
5 | g.13829541T= | CA1528458068 | DNAH5 | n.1344A= c.6413A= (p.Tyr2138=) c.6368A= (p.Tyr2123=) n.6620A= c.6521A= (p.Tyr2174=) c.5426A= (p.Tyr1809=) c.1610A= (p.Tyr537=) c.1163A= (p.Tyr388=) c.500A= (p.Tyr167=) c.5015A= (p.Tyr1672=) n.6538A= | |
5 | g.13829542A>C | CA359199577 | DNAH5 | n.1343T>G c.6412T>G (p.Tyr2138Asp) c.6367T>G (p.Tyr2123Asp) n.6619T>G c.6520T>G (p.Tyr2174Asp) c.5425T>G (p.Tyr1809Asp) c.1609T>G (p.Tyr537Asp) c.1162T>G (p.Tyr388Asp) c.499T>G (p.Tyr167Asp) c.5014T>G (p.Tyr1672Asp) n.6537T>G | |
5 | g.13829542A>G | CA359199582 | DNAH5 | n.1343T>C c.6412T>C (p.Tyr2138His) c.6367T>C (p.Tyr2123His) n.6619T>C c.6520T>C (p.Tyr2174His) c.5425T>C (p.Tyr1809His) c.1609T>C (p.Tyr537His) c.1162T>C (p.Tyr388His) c.499T>C (p.Tyr167His) c.5014T>C (p.Tyr1672His) n.6537T>C | |
5 | g.13829542A>T | CA359199581 | DNAH5 | n.1343T>A c.6412T>A (p.Tyr2138Asn) c.6367T>A (p.Tyr2123Asn) n.6619T>A c.6520T>A (p.Tyr2174Asn) c.5425T>A (p.Tyr1809Asn) c.1609T>A (p.Tyr537Asn) c.1162T>A (p.Tyr388Asn) c.499T>A (p.Tyr167Asn) c.5014T>A (p.Tyr1672Asn) n.6537T>A | |
5 | g.13829543G>A | CA113937630 | DNAH5 | n.1342C>T c.6411C>T (p.Leu2137=) c.6366C>T (p.Leu2122=) n.6618C>T c.6519C>T (p.Leu2173=) c.5424C>T (p.Leu1808=) c.1608C>T (p.Leu536=) c.1161C>T (p.Leu387=) c.498C>T (p.Leu166=) c.5013C>T (p.Leu1671=) n.6536C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829543G>C | CA3203414 | DNAH5 | n.1342C>G c.6411C>G (p.Leu2137=) c.6366C>G (p.Leu2122=) n.6618C>G c.6519C>G (p.Leu2173=) c.5424C>G (p.Leu1808=) c.1608C>G (p.Leu536=) c.1161C>G (p.Leu387=) c.498C>G (p.Leu166=) c.5013C>G (p.Leu1671=) n.6536C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13829543G= | CA1528458069 | DNAH5 | n.1342C= c.6411C= (p.Leu2137=) c.6366C= (p.Leu2122=) n.6618C= c.6519C= (p.Leu2173=) c.5424C= (p.Leu1808=) c.1608C= (p.Leu536=) c.1161C= (p.Leu387=) c.498C= (p.Leu166=) c.5013C= (p.Leu1671=) n.6536C= | |
5 | g.13829543G>T | CA443251360 | DNAH5 | n.1342C>A c.6411C>A (p.Leu2137=) c.6366C>A (p.Leu2122=) n.6618C>A c.6519C>A (p.Leu2173=) c.5424C>A (p.Leu1808=) c.1608C>A (p.Leu536=) c.1161C>A (p.Leu387=) c.498C>A (p.Leu166=) c.5013C>A (p.Leu1671=) n.6536C>A | |
5 | g.13829544A= | CA1528458070 | DNAH5 | n.1341T= c.6410T= (p.Leu2137=) c.6365T= (p.Leu2122=) n.6617T= c.6518T= (p.Leu2173=) c.5423T= (p.Leu1808=) c.1607T= (p.Leu536=) c.1160T= (p.Leu387=) c.497T= (p.Leu166=) c.5012T= (p.Leu1671=) n.6535T= | |
5 | g.13829544A>C | CA359199588 | DNAH5 | n.1341T>G c.6410T>G (p.Leu2137Arg) c.6365T>G (p.Leu2122Arg) n.6617T>G c.6518T>G (p.Leu2173Arg) c.5423T>G (p.Leu1808Arg) c.1607T>G (p.Leu536Arg) c.1160T>G (p.Leu387Arg) c.497T>G (p.Leu166Arg) c.5012T>G (p.Leu1671Arg) n.6535T>G | |
5 | g.13829544A>G | CA359199591 | DNAH5 | n.1341T>C c.6410T>C (p.Leu2137Pro) c.6365T>C (p.Leu2122Pro) n.6617T>C c.6518T>C (p.Leu2173Pro) c.5423T>C (p.Leu1808Pro) c.1607T>C (p.Leu536Pro) c.1160T>C (p.Leu387Pro) c.497T>C (p.Leu166Pro) c.5012T>C (p.Leu1671Pro) n.6535T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829544A>T | CA359199594 | DNAH5 | n.1341T>A c.6410T>A (p.Leu2137His) c.6365T>A (p.Leu2122His) n.6617T>A c.6518T>A (p.Leu2173His) c.5423T>A (p.Leu1808His) c.1607T>A (p.Leu536His) c.1160T>A (p.Leu387His) c.497T>A (p.Leu166His) c.5012T>A (p.Leu1671His) n.6535T>A | |
5 | g.13829545G>A | CA359199600 | DNAH5 | n.1340C>T c.6409C>T (p.Leu2137Phe) c.6364C>T (p.Leu2122Phe) n.6616C>T c.6517C>T (p.Leu2173Phe) c.5422C>T (p.Leu1808Phe) c.1606C>T (p.Leu536Phe) c.1159C>T (p.Leu387Phe) c.496C>T (p.Leu166Phe) c.5011C>T (p.Leu1671Phe) n.6534C>T | |
5 | g.13829545G>C | CA359199607 | DNAH5 | n.1340C>G c.6409C>G (p.Leu2137Val) c.6364C>G (p.Leu2122Val) n.6616C>G c.6517C>G (p.Leu2173Val) c.5422C>G (p.Leu1808Val) c.1606C>G (p.Leu536Val) c.1159C>G (p.Leu387Val) c.496C>G (p.Leu166Val) c.5011C>G (p.Leu1671Val) n.6534C>G | |
5 | g.13829545G= | CA1528458071 | DNAH5 | n.1340C= c.6409C= (p.Leu2137=) c.6364C= (p.Leu2122=) n.6616C= c.6517C= (p.Leu2173=) c.5422C= (p.Leu1808=) c.1606C= (p.Leu536=) c.1159C= (p.Leu387=) c.496C= (p.Leu166=) c.5011C= (p.Leu1671=) n.6534C= | |
5 | g.13829545G>T | CA3203415 | DNAH5 | n.1340C>A c.6409C>A (p.Leu2137Ile) c.6364C>A (p.Leu2122Ile) n.6616C>A c.6517C>A (p.Leu2173Ile) c.5422C>A (p.Leu1808Ile) c.1606C>A (p.Leu536Ile) c.1159C>A (p.Leu387Ile) c.496C>A (p.Leu166Ile) c.5011C>A (p.Leu1671Ile) n.6534C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829546C>A | CA443251364 | DNAH5 | n.1339G>T c.6408G>T (p.Thr2136=) c.6363G>T (p.Thr2121=) n.6615G>T c.6516G>T (p.Thr2172=) c.5421G>T (p.Thr1807=) c.1605G>T (p.Thr535=) c.1158G>T (p.Thr386=) c.495G>T (p.Thr165=) c.5010G>T (p.Thr1670=) n.6533G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829546C= | CA1528458072 | DNAH5 | n.1339G= c.6408G= (p.Thr2136=) c.6363G= (p.Thr2121=) n.6615G= c.6516G= (p.Thr2172=) c.5421G= (p.Thr1807=) c.1605G= (p.Thr535=) c.1158G= (p.Thr386=) c.495G= (p.Thr165=) c.5010G= (p.Thr1670=) n.6533G= | |
5 | g.13829546C>G | CA443251366 | DNAH5 | n.1339G>C c.6408G>C (p.Thr2136=) c.6363G>C (p.Thr2121=) n.6615G>C c.6516G>C (p.Thr2172=) c.5421G>C (p.Thr1807=) c.1605G>C (p.Thr535=) c.1158G>C (p.Thr386=) c.495G>C (p.Thr165=) c.5010G>C (p.Thr1670=) n.6533G>C | |
5 | g.13829546C>T | CA3203416 | DNAH5 | n.1339G>A c.6408G>A (p.Thr2136=) c.6363G>A (p.Thr2121=) n.6615G>A c.6516G>A (p.Thr2172=) c.5421G>A (p.Thr1807=) c.1605G>A (p.Thr535=) c.1158G>A (p.Thr386=) c.495G>A (p.Thr165=) c.5010G>A (p.Thr1670=) n.6533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13829547G>A | CA3203417 | DNAH5 | n.1338C>T c.6407C>T (p.Thr2136Met) c.6362C>T (p.Thr2121Met) n.6614C>T c.6515C>T (p.Thr2172Met) c.5420C>T (p.Thr1807Met) c.1604C>T (p.Thr535Met) c.1157C>T (p.Thr386Met) c.494C>T (p.Thr165Met) c.5009C>T (p.Thr1670Met) n.6532C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829547G>C | CA359199616 | DNAH5 | n.1338C>G c.6407C>G (p.Thr2136Arg) c.6362C>G (p.Thr2121Arg) n.6614C>G c.6515C>G (p.Thr2172Arg) c.5420C>G (p.Thr1807Arg) c.1604C>G (p.Thr535Arg) c.1157C>G (p.Thr386Arg) c.494C>G (p.Thr165Arg) c.5009C>G (p.Thr1670Arg) n.6532C>G | |
5 | g.13829547G= | CA1528458073 | DNAH5 | n.1338C= c.6407C= (p.Thr2136=) c.6362C= (p.Thr2121=) n.6614C= c.6515C= (p.Thr2172=) c.5420C= (p.Thr1807=) c.1604C= (p.Thr535=) c.1157C= (p.Thr386=) c.494C= (p.Thr165=) c.5009C= (p.Thr1670=) n.6532C= | |
5 | g.13829547G>T | CA359199619 | DNAH5 | n.1338C>A c.6407C>A (p.Thr2136Lys) c.6362C>A (p.Thr2121Lys) n.6614C>A c.6515C>A (p.Thr2172Lys) c.5420C>A (p.Thr1807Lys) c.1604C>A (p.Thr535Lys) c.1157C>A (p.Thr386Lys) c.494C>A (p.Thr165Lys) c.5009C>A (p.Thr1670Lys) n.6532C>A | |
5 | g.13829548T>A | CA359199622 | DNAH5 | n.1337A>T c.6406A>T (p.Thr2136Ser) c.6361A>T (p.Thr2121Ser) n.6613A>T c.6514A>T (p.Thr2172Ser) c.5419A>T (p.Thr1807Ser) c.1603A>T (p.Thr535Ser) c.1156A>T (p.Thr386Ser) c.493A>T (p.Thr165Ser) c.5008A>T (p.Thr1670Ser) n.6531A>T | gnomAD v4 |
5 | g.13829548T>C | CA359199628 | DNAH5 | n.1337A>G c.6406A>G (p.Thr2136Ala) c.6361A>G (p.Thr2121Ala) n.6613A>G c.6514A>G (p.Thr2172Ala) c.5419A>G (p.Thr1807Ala) c.1603A>G (p.Thr535Ala) c.1156A>G (p.Thr386Ala) c.493A>G (p.Thr165Ala) c.5008A>G (p.Thr1670Ala) n.6531A>G | |
5 | g.13829548T>G | CA359199625 | DNAH5 | n.1337A>C c.6406A>C (p.Thr2136Pro) c.6361A>C (p.Thr2121Pro) n.6613A>C c.6514A>C (p.Thr2172Pro) c.5419A>C (p.Thr1807Pro) c.1603A>C (p.Thr535Pro) c.1156A>C (p.Thr386Pro) c.493A>C (p.Thr165Pro) c.5008A>C (p.Thr1670Pro) n.6531A>C | |
5 | g.13829549G>A | CA443251368 | DNAH5 | n.1336C>T c.6405C>T (p.Phe2135=) c.6360C>T (p.Phe2120=) n.6612C>T c.6513C>T (p.Phe2171=) c.5418C>T (p.Phe1806=) c.1602C>T (p.Phe534=) c.1155C>T (p.Phe385=) c.492C>T (p.Phe164=) c.5007C>T (p.Phe1669=) n.6530C>T | COSMIC |
5 | g.13829549G>C | CA359199631 | DNAH5 | n.1336C>G c.6405C>G (p.Phe2135Leu) c.6360C>G (p.Phe2120Leu) n.6612C>G c.6513C>G (p.Phe2171Leu) c.5418C>G (p.Phe1806Leu) c.1602C>G (p.Phe534Leu) c.1155C>G (p.Phe385Leu) c.492C>G (p.Phe164Leu) c.5007C>G (p.Phe1669Leu) n.6530C>G | |
5 | g.13829549G= | CA1528458074 | DNAH5 | n.1336C= c.6405C= (p.Phe2135=) c.6360C= (p.Phe2120=) n.6612C= c.6513C= (p.Phe2171=) c.5418C= (p.Phe1806=) c.1602C= (p.Phe534=) c.1155C= (p.Phe385=) c.492C= (p.Phe164=) c.5007C= (p.Phe1669=) n.6530C= | |
5 | g.13829549G>T | CA359199633 | DNAH5 | n.1336C>A c.6405C>A (p.Phe2135Leu) c.6360C>A (p.Phe2120Leu) n.6612C>A c.6513C>A (p.Phe2171Leu) c.5418C>A (p.Phe1806Leu) c.1602C>A (p.Phe534Leu) c.1155C>A (p.Phe385Leu) c.492C>A (p.Phe164Leu) c.5007C>A (p.Phe1669Leu) n.6530C>A | |
5 | g.13829550A= | CA1528458075 | DNAH5 | n.1335T= c.6404T= (p.Phe2135=) c.6359T= (p.Phe2120=) n.6611T= c.6512T= (p.Phe2171=) c.5417T= (p.Phe1806=) c.1601T= (p.Phe534=) c.1154T= (p.Phe385=) c.491T= (p.Phe164=) c.5006T= (p.Phe1669=) n.6529T= | |
5 | g.13829550A>C | CA359199636 | DNAH5 | n.1335T>G c.6404T>G (p.Phe2135Cys) c.6359T>G (p.Phe2120Cys) n.6611T>G c.6512T>G (p.Phe2171Cys) c.5417T>G (p.Phe1806Cys) c.1601T>G (p.Phe534Cys) c.1154T>G (p.Phe385Cys) c.491T>G (p.Phe164Cys) c.5006T>G (p.Phe1669Cys) n.6529T>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829550A>G | CA359199638 | DNAH5 | n.1335T>C c.6404T>C (p.Phe2135Ser) c.6359T>C (p.Phe2120Ser) n.6611T>C c.6512T>C (p.Phe2171Ser) c.5417T>C (p.Phe1806Ser) c.1601T>C (p.Phe534Ser) c.1154T>C (p.Phe385Ser) c.491T>C (p.Phe164Ser) c.5006T>C (p.Phe1669Ser) n.6529T>C | |
5 | g.13829550A>T | CA359199641 | DNAH5 | n.1335T>A c.6404T>A (p.Phe2135Tyr) c.6359T>A (p.Phe2120Tyr) n.6611T>A c.6512T>A (p.Phe2171Tyr) c.5417T>A (p.Phe1806Tyr) c.1601T>A (p.Phe534Tyr) c.1154T>A (p.Phe385Tyr) c.491T>A (p.Phe164Tyr) c.5006T>A (p.Phe1669Tyr) n.6529T>A | |
5 | g.13829554dup | CA917418402 | DNAH5 | n.1335dup c.6404dup (p.Thr2136HisfsTer7) c.6359dup (p.Thr2121HisfsTer7) n.6611dup c.6512dup (p.Thr2172HisfsTer7) c.5417dup (p.Thr1807HisfsTer7) c.1601dup (p.Thr535HisfsTer7) c.1154dup (p.Thr386HisfsTer7) c.491dup (p.Thr165HisfsTer7) c.5006dup (p.Thr1670HisfsTer7) n.6529dup | dbSNP |
5 | g.13829551A>C | CA359199644 | DNAH5 | n.1334T>G c.6403T>G (p.Phe2135Val) c.6358T>G (p.Phe2120Val) n.6610T>G c.6511T>G (p.Phe2171Val) c.5416T>G (p.Phe1806Val) c.1600T>G (p.Phe534Val) c.1153T>G (p.Phe385Val) c.490T>G (p.Phe164Val) c.5005T>G (p.Phe1669Val) n.6528T>G | |
5 | g.13829551A>G | CA359199646 | DNAH5 | n.1334T>C c.6403T>C (p.Phe2135Leu) c.6358T>C (p.Phe2120Leu) n.6610T>C c.6511T>C (p.Phe2171Leu) c.5416T>C (p.Phe1806Leu) c.1600T>C (p.Phe534Leu) c.1153T>C (p.Phe385Leu) c.490T>C (p.Phe164Leu) c.5005T>C (p.Phe1669Leu) n.6528T>C | |
5 | g.13829551A>T | CA359199648 | DNAH5 | n.1334T>A c.6403T>A (p.Phe2135Ile) c.6358T>A (p.Phe2120Ile) n.6610T>A c.6511T>A (p.Phe2171Ile) c.5416T>A (p.Phe1806Ile) c.1600T>A (p.Phe534Ile) c.1153T>A (p.Phe385Ile) c.490T>A (p.Phe164Ile) c.5005T>A (p.Phe1669Ile) n.6528T>A | |
5 | g.13829552A= | CA1528458076 | DNAH5 | n.1333T= c.6402T= (p.Phe2134=) c.6357T= (p.Phe2119=) n.6609T= c.6510T= (p.Phe2170=) c.5415T= (p.Phe1805=) c.1599T= (p.Phe533=) c.1152T= (p.Phe384=) c.489T= (p.Phe163=) c.5004T= (p.Phe1668=) n.6527T= | |
5 | g.13829552A>C | CA359199925 | DNAH5 | n.1333T>G c.6402T>G (p.Phe2134Leu) c.6357T>G (p.Phe2119Leu) n.6609T>G c.6510T>G (p.Phe2170Leu) c.5415T>G (p.Phe1805Leu) c.1599T>G (p.Phe533Leu) c.1152T>G (p.Phe384Leu) c.489T>G (p.Phe163Leu) c.5004T>G (p.Phe1668Leu) n.6527T>G | |
5 | g.13829552A>G | CA443251472 | DNAH5 | n.1333T>C c.6402T>C (p.Phe2134=) c.6357T>C (p.Phe2119=) n.6609T>C c.6510T>C (p.Phe2170=) c.5415T>C (p.Phe1805=) c.1599T>C (p.Phe533=) c.1152T>C (p.Phe384=) c.489T>C (p.Phe163=) c.5004T>C (p.Phe1668=) n.6527T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13829552A>T | CA359199926 | DNAH5 | n.1333T>A c.6402T>A (p.Phe2134Leu) c.6357T>A (p.Phe2119Leu) n.6609T>A c.6510T>A (p.Phe2170Leu) c.5415T>A (p.Phe1805Leu) c.1599T>A (p.Phe533Leu) c.1152T>A (p.Phe384Leu) c.489T>A (p.Phe163Leu) c.5004T>A (p.Phe1668Leu) n.6527T>A | |
5 | g.13829553A>C | CA359199927 | DNAH5 | n.1332T>G c.6401T>G (p.Phe2134Cys) c.6356T>G (p.Phe2119Cys) n.6608T>G c.6509T>G (p.Phe2170Cys) c.5414T>G (p.Phe1805Cys) c.1598T>G (p.Phe533Cys) c.1151T>G (p.Phe384Cys) c.488T>G (p.Phe163Cys) c.5003T>G (p.Phe1668Cys) n.6526T>G | |
5 | g.13829553A>G | CA359199928 | DNAH5 | n.1332T>C c.6401T>C (p.Phe2134Ser) c.6356T>C (p.Phe2119Ser) n.6608T>C c.6509T>C (p.Phe2170Ser) c.5414T>C (p.Phe1805Ser) c.1598T>C (p.Phe533Ser) c.1151T>C (p.Phe384Ser) c.488T>C (p.Phe163Ser) c.5003T>C (p.Phe1668Ser) n.6526T>C | |
5 | g.13829553A>T | CA359199929 | DNAH5 | n.1332T>A c.6401T>A (p.Phe2134Tyr) c.6356T>A (p.Phe2119Tyr) n.6608T>A c.6509T>A (p.Phe2170Tyr) c.5414T>A (p.Phe1805Tyr) c.1598T>A (p.Phe533Tyr) c.1151T>A (p.Phe384Tyr) c.488T>A (p.Phe163Tyr) c.5003T>A (p.Phe1668Tyr) n.6526T>A | |
5 | g.13829554A>C | CA359199930 | DNAH5 | n.1331T>G c.6400T>G (p.Phe2134Val) c.6355T>G (p.Phe2119Val) n.6607T>G c.6508T>G (p.Phe2170Val) c.5413T>G (p.Phe1805Val) c.1597T>G (p.Phe533Val) c.1150T>G (p.Phe384Val) c.487T>G (p.Phe163Val) c.5002T>G (p.Phe1668Val) n.6525T>G | |
5 | g.13829554A>G | CA359199932 | DNAH5 | n.1331T>C c.6400T>C (p.Phe2134Leu) c.6355T>C (p.Phe2119Leu) n.6607T>C c.6508T>C (p.Phe2170Leu) c.5413T>C (p.Phe1805Leu) c.1597T>C (p.Phe533Leu) c.1150T>C (p.Phe384Leu) c.487T>C (p.Phe163Leu) c.5002T>C (p.Phe1668Leu) n.6525T>C | |
5 | g.13829554A>T | CA359199931 | DNAH5 | n.1331T>A c.6400T>A (p.Phe2134Ile) c.6355T>A (p.Phe2119Ile) n.6607T>A c.6508T>A (p.Phe2170Ile) c.5413T>A (p.Phe1805Ile) c.1597T>A (p.Phe533Ile) c.1150T>A (p.Phe384Ile) c.487T>A (p.Phe163Ile) c.5002T>A (p.Phe1668Ile) n.6525T>A | |
5 | g.13829555C>A | CA359199933 | DNAH5 | n.1330G>T c.6399G>T (p.Lys2133Asn) c.6354G>T (p.Lys2118Asn) n.6606G>T c.6507G>T (p.Lys2169Asn) c.5412G>T (p.Lys1804Asn) c.1596G>T (p.Lys532Asn) c.1149G>T (p.Lys383Asn) c.486G>T (p.Lys162Asn) c.5001G>T (p.Lys1667Asn) n.6524G>T | |
5 | g.13829555C>G | CA359199934 | DNAH5 | n.1330G>C c.6399G>C (p.Lys2133Asn) c.6354G>C (p.Lys2118Asn) n.6606G>C c.6507G>C (p.Lys2169Asn) c.5412G>C (p.Lys1804Asn) c.1596G>C (p.Lys532Asn) c.1149G>C (p.Lys383Asn) c.486G>C (p.Lys162Asn) c.5001G>C (p.Lys1667Asn) n.6524G>C | |
5 | g.13829555C>T | CA443251475 | DNAH5 | n.1330G>A c.6399G>A (p.Lys2133=) c.6354G>A (p.Lys2118=) n.6606G>A c.6507G>A (p.Lys2169=) c.5412G>A (p.Lys1804=) c.1596G>A (p.Lys532=) c.1149G>A (p.Lys383=) c.486G>A (p.Lys162=) c.5001G>A (p.Lys1667=) n.6524G>A | |
5 | g.13829556T>A | CA359199935 | DNAH5 | n.1329A>T c.6398A>T (p.Lys2133Met) c.6353A>T (p.Lys2118Met) n.6605A>T c.6506A>T (p.Lys2169Met) c.5411A>T (p.Lys1804Met) c.1595A>T (p.Lys532Met) c.1148A>T (p.Lys383Met) c.485A>T (p.Lys162Met) c.5000A>T (p.Lys1667Met) n.6523A>T | |
5 | g.13829556T>C | CA359199936 | DNAH5 | n.1329A>G c.6398A>G (p.Lys2133Arg) c.6353A>G (p.Lys2118Arg) n.6605A>G c.6506A>G (p.Lys2169Arg) c.5411A>G (p.Lys1804Arg) c.1595A>G (p.Lys532Arg) c.1148A>G (p.Lys383Arg) c.485A>G (p.Lys162Arg) c.5000A>G (p.Lys1667Arg) n.6523A>G | |
5 | g.13829556T>G | CA359199937 | DNAH5 | n.1329A>C c.6398A>C (p.Lys2133Thr) c.6353A>C (p.Lys2118Thr) n.6605A>C c.6506A>C (p.Lys2169Thr) c.5411A>C (p.Lys1804Thr) c.1595A>C (p.Lys532Thr) c.1148A>C (p.Lys383Thr) c.485A>C (p.Lys162Thr) c.5000A>C (p.Lys1667Thr) n.6523A>C | gnomAD v4 |
5 | g.13829557T>A | CA359199938 | DNAH5 | n.1328A>T c.6397A>T (p.Lys2133Ter) c.6352A>T (p.Lys2118Ter) n.6604A>T c.6505A>T (p.Lys2169Ter) c.5410A>T (p.Lys1804Ter) c.1594A>T (p.Lys532Ter) c.1147A>T (p.Lys383Ter) c.484A>T (p.Lys162Ter) c.4999A>T (p.Lys1667Ter) n.6522A>T | |
5 | g.13829557T>C | CA359199939 | DNAH5 | n.1328A>G c.6397A>G (p.Lys2133Glu) c.6352A>G (p.Lys2118Glu) n.6604A>G c.6505A>G (p.Lys2169Glu) c.5410A>G (p.Lys1804Glu) c.1594A>G (p.Lys532Glu) c.1147A>G (p.Lys383Glu) c.484A>G (p.Lys162Glu) c.4999A>G (p.Lys1667Glu) n.6522A>G | |
5 | g.13829557T>G | CA359199940 | DNAH5 | n.1328A>C c.6397A>C (p.Lys2133Gln) c.6352A>C (p.Lys2118Gln) n.6604A>C c.6505A>C (p.Lys2169Gln) c.5410A>C (p.Lys1804Gln) c.1594A>C (p.Lys532Gln) c.1147A>C (p.Lys383Gln) c.484A>C (p.Lys162Gln) c.4999A>C (p.Lys1667Gln) n.6522A>C | |
5 | g.13829558C>A | CA359199941 | DNAH5 | n.1327G>T c.6396G>T (p.Arg2132Ser) c.6351G>T (p.Arg2117Ser) n.6603G>T c.6504G>T (p.Arg2168Ser) c.5409G>T (p.Arg1803Ser) c.1593G>T (p.Arg531Ser) c.1146G>T (p.Arg382Ser) c.483G>T (p.Arg161Ser) c.4998G>T (p.Arg1666Ser) n.6521G>T | |
5 | g.13829558C>G | CA359199942 | DNAH5 | n.1327G>C c.6396G>C (p.Arg2132Ser) c.6351G>C (p.Arg2117Ser) n.6603G>C c.6504G>C (p.Arg2168Ser) c.5409G>C (p.Arg1803Ser) c.1593G>C (p.Arg531Ser) c.1146G>C (p.Arg382Ser) c.483G>C (p.Arg161Ser) c.4998G>C (p.Arg1666Ser) n.6521G>C | gnomAD v4 |
5 | g.13829558C>T | CA443251484 | DNAH5 | n.1327G>A c.6396G>A (p.Arg2132=) c.6351G>A (p.Arg2117=) n.6603G>A c.6504G>A (p.Arg2168=) c.5409G>A (p.Arg1803=) c.1593G>A (p.Arg531=) c.1146G>A (p.Arg382=) c.483G>A (p.Arg161=) c.4998G>A (p.Arg1666=) n.6521G>A | gnomAD v4 COSMIC |
5 | g.13829559C>A | CA359199945 | DNAH5 | n.1326G>T c.6395G>T (p.Arg2132Met) c.6350G>T (p.Arg2117Met) n.6602G>T c.6503G>T (p.Arg2168Met) c.5408G>T (p.Arg1803Met) c.1592G>T (p.Arg531Met) c.1145G>T (p.Arg382Met) c.482G>T (p.Arg161Met) c.4997G>T (p.Arg1666Met) n.6520G>T | |
5 | g.13829559C>G | CA359199944 | DNAH5 | n.1326G>C c.6395G>C (p.Arg2132Thr) c.6350G>C (p.Arg2117Thr) n.6602G>C c.6503G>C (p.Arg2168Thr) c.5408G>C (p.Arg1803Thr) c.1592G>C (p.Arg531Thr) c.1145G>C (p.Arg382Thr) c.482G>C (p.Arg161Thr) c.4997G>C (p.Arg1666Thr) n.6520G>C | |
5 | g.13829559C>T | CA359199943 | DNAH5 | n.1326G>A c.6395G>A (p.Arg2132Lys) c.6350G>A (p.Arg2117Lys) n.6602G>A c.6503G>A (p.Arg2168Lys) c.5408G>A (p.Arg1803Lys) c.1592G>A (p.Arg531Lys) c.1145G>A (p.Arg382Lys) c.482G>A (p.Arg161Lys) c.4997G>A (p.Arg1666Lys) n.6520G>A | |
5 | g.13829560T>A | CA359199946 | DNAH5 | n.1325A>T c.6394A>T (p.Arg2132Trp) c.6349A>T (p.Arg2117Trp) n.6601A>T c.6502A>T (p.Arg2168Trp) c.5407A>T (p.Arg1803Trp) c.1591A>T (p.Arg531Trp) c.1144A>T (p.Arg382Trp) c.481A>T (p.Arg161Trp) c.4996A>T (p.Arg1666Trp) n.6519A>T | |
5 | g.13829560T>C | CA3203418 | DNAH5 | n.1325A>G c.6394A>G (p.Arg2132Gly) c.6349A>G (p.Arg2117Gly) n.6601A>G c.6502A>G (p.Arg2168Gly) c.5407A>G (p.Arg1803Gly) c.1591A>G (p.Arg531Gly) c.1144A>G (p.Arg382Gly) c.481A>G (p.Arg161Gly) c.4996A>G (p.Arg1666Gly) n.6519A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829560T>G | CA443251489 | DNAH5 | n.1325A>C c.6394A>C (p.Arg2132=) c.6349A>C (p.Arg2117=) n.6601A>C c.6502A>C (p.Arg2168=) c.5407A>C (p.Arg1803=) c.1591A>C (p.Arg531=) c.1144A>C (p.Arg382=) c.481A>C (p.Arg161=) c.4996A>C (p.Arg1666=) n.6519A>C | |
5 | g.13829560T= | CA1528458077 | DNAH5 | n.1325A= c.6394A= (p.Arg2132=) c.6349A= (p.Arg2117=) n.6601A= c.6502A= (p.Arg2168=) c.5407A= (p.Arg1803=) c.1591A= (p.Arg531=) c.1144A= (p.Arg382=) c.481A= (p.Arg161=) c.4996A= (p.Arg1666=) n.6519A= | |
5 | g.13829561G>A | CA443251490 | DNAH5 | n.1324C>T c.6393C>T (p.Ala2131=) c.6348C>T (p.Ala2116=) n.6600C>T c.6501C>T (p.Ala2167=) c.5406C>T (p.Ala1802=) c.1590C>T (p.Ala530=) c.1143C>T (p.Ala381=) c.480C>T (p.Ala160=) c.4995C>T (p.Ala1665=) n.6518C>T | |
5 | g.13829561G>C | CA443251491 | DNAH5 | n.1324C>G c.6393C>G (p.Ala2131=) c.6348C>G (p.Ala2116=) n.6600C>G c.6501C>G (p.Ala2167=) c.5406C>G (p.Ala1802=) c.1590C>G (p.Ala530=) c.1143C>G (p.Ala381=) c.480C>G (p.Ala160=) c.4995C>G (p.Ala1665=) n.6518C>G | |
5 | g.13829561G>T | CA443251492 | DNAH5 | n.1324C>A c.6393C>A (p.Ala2131=) c.6348C>A (p.Ala2116=) n.6600C>A c.6501C>A (p.Ala2167=) c.5406C>A (p.Ala1802=) c.1590C>A (p.Ala530=) c.1143C>A (p.Ala381=) c.480C>A (p.Ala160=) c.4995C>A (p.Ala1665=) n.6518C>A | |
5 | g.13829562G>A | CA113937640 | DNAH5 | n.1323C>T c.6392C>T (p.Ala2131Val) c.6347C>T (p.Ala2116Val) n.6599C>T c.6500C>T (p.Ala2167Val) c.5405C>T (p.Ala1802Val) c.1589C>T (p.Ala530Val) c.1142C>T (p.Ala381Val) c.479C>T (p.Ala160Val) c.4994C>T (p.Ala1665Val) n.6517C>T | dbSNP |
5 | g.13829562G>C | CA3203419 | DNAH5 | n.1323C>G c.6392C>G (p.Ala2131Gly) c.6347C>G (p.Ala2116Gly) n.6599C>G c.6500C>G (p.Ala2167Gly) c.5405C>G (p.Ala1802Gly) c.1589C>G (p.Ala530Gly) c.1142C>G (p.Ala381Gly) c.479C>G (p.Ala160Gly) c.4994C>G (p.Ala1665Gly) n.6517C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829562G= | CA1528458078 | DNAH5 | n.1323C= c.6392C= (p.Ala2131=) c.6347C= (p.Ala2116=) n.6599C= c.6500C= (p.Ala2167=) c.5405C= (p.Ala1802=) c.1589C= (p.Ala530=) c.1142C= (p.Ala381=) c.479C= (p.Ala160=) c.4994C= (p.Ala1665=) n.6517C= | |
5 | g.13829562G>T | CA359199947 | DNAH5 | n.1323C>A c.6392C>A (p.Ala2131Asp) c.6347C>A (p.Ala2116Asp) n.6599C>A c.6500C>A (p.Ala2167Asp) c.5405C>A (p.Ala1802Asp) c.1589C>A (p.Ala530Asp) c.1142C>A (p.Ala381Asp) c.479C>A (p.Ala160Asp) c.4994C>A (p.Ala1665Asp) n.6517C>A | |
5 | g.13829563C>A | CA359199948 | DNAH5 | n.1322G>T c.6391G>T (p.Ala2131Ser) c.6346G>T (p.Ala2116Ser) n.6598G>T c.6499G>T (p.Ala2167Ser) c.5404G>T (p.Ala1802Ser) c.1588G>T (p.Ala530Ser) c.1141G>T (p.Ala381Ser) c.478G>T (p.Ala160Ser) c.4993G>T (p.Ala1665Ser) n.6516G>T | |
5 | g.13829563C= | CA1528458079 | DNAH5 | n.1322G= c.6391G= (p.Ala2131=) c.6346G= (p.Ala2116=) n.6598G= c.6499G= (p.Ala2167=) c.5404G= (p.Ala1802=) c.1588G= (p.Ala530=) c.1141G= (p.Ala381=) c.478G= (p.Ala160=) c.4993G= (p.Ala1665=) n.6516G= | |
5 | g.13829563C>G | CA359199949 | DNAH5 | n.1322G>C c.6391G>C (p.Ala2131Pro) c.6346G>C (p.Ala2116Pro) n.6598G>C c.6499G>C (p.Ala2167Pro) c.5404G>C (p.Ala1802Pro) c.1588G>C (p.Ala530Pro) c.1141G>C (p.Ala381Pro) c.478G>C (p.Ala160Pro) c.4993G>C (p.Ala1665Pro) n.6516G>C | |
5 | g.13829563C>T | CA359199950 | DNAH5 | n.1322G>A c.6391G>A (p.Ala2131Thr) c.6346G>A (p.Ala2116Thr) n.6598G>A c.6499G>A (p.Ala2167Thr) c.5404G>A (p.Ala1802Thr) c.1588G>A (p.Ala530Thr) c.1141G>A (p.Ala381Thr) c.478G>A (p.Ala160Thr) c.4993G>A (p.Ala1665Thr) n.6516G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829564C>A | CA359199951 | DNAH5 | n.1321G>T c.6390G>T (p.Leu2130Phe) c.6345G>T (p.Leu2115Phe) n.6597G>T c.6498G>T (p.Leu2166Phe) c.5403G>T (p.Leu1801Phe) c.1587G>T (p.Leu529Phe) c.1140G>T (p.Leu380Phe) c.477G>T (p.Leu159Phe) c.4992G>T (p.Leu1664Phe) n.6515G>T | |
5 | g.13829564C>G | CA359199952 | DNAH5 | n.1321G>C c.6390G>C (p.Leu2130Phe) c.6345G>C (p.Leu2115Phe) n.6597G>C c.6498G>C (p.Leu2166Phe) c.5403G>C (p.Leu1801Phe) c.1587G>C (p.Leu529Phe) c.1140G>C (p.Leu380Phe) c.477G>C (p.Leu159Phe) c.4992G>C (p.Leu1664Phe) n.6515G>C | |
5 | g.13829564C>T | CA443251497 | DNAH5 | n.1321G>A c.6390G>A (p.Leu2130=) c.6345G>A (p.Leu2115=) n.6597G>A c.6498G>A (p.Leu2166=) c.5403G>A (p.Leu1801=) c.1587G>A (p.Leu529=) c.1140G>A (p.Leu380=) c.477G>A (p.Leu159=) c.4992G>A (p.Leu1664=) n.6515G>A | gnomAD v4 |
5 | g.13829565A>C | CA359199953 | DNAH5 | n.1320T>G c.6389T>G (p.Leu2130Trp) c.6344T>G (p.Leu2115Trp) n.6596T>G c.6497T>G (p.Leu2166Trp) c.5402T>G (p.Leu1801Trp) c.1586T>G (p.Leu529Trp) c.1139T>G (p.Leu380Trp) c.476T>G (p.Leu159Trp) c.4991T>G (p.Leu1664Trp) n.6514T>G | |
5 | g.13829565A>G | CA359199954 | DNAH5 | n.1320T>C c.6389T>C (p.Leu2130Ser) c.6344T>C (p.Leu2115Ser) n.6596T>C c.6497T>C (p.Leu2166Ser) c.5402T>C (p.Leu1801Ser) c.1586T>C (p.Leu529Ser) c.1139T>C (p.Leu380Ser) c.476T>C (p.Leu159Ser) c.4991T>C (p.Leu1664Ser) n.6514T>C | |
5 | g.13829565A>T | CA359199955 | DNAH5 | n.1320T>A c.6389T>A (p.Leu2130Ter) c.6344T>A (p.Leu2115Ter) n.6596T>A c.6497T>A (p.Leu2166Ter) c.5402T>A (p.Leu1801Ter) c.1586T>A (p.Leu529Ter) c.1139T>A (p.Leu380Ter) c.476T>A (p.Leu159Ter) c.4991T>A (p.Leu1664Ter) n.6514T>A | |
5 | g.13829566A>C | CA359199956 | DNAH5 | n.1319T>G c.6388T>G (p.Leu2130Val) c.6343T>G (p.Leu2115Val) n.6595T>G c.6496T>G (p.Leu2166Val) c.5401T>G (p.Leu1801Val) c.1585T>G (p.Leu529Val) c.1138T>G (p.Leu380Val) c.475T>G (p.Leu159Val) c.4990T>G (p.Leu1664Val) n.6513T>G | |
5 | g.13829566A>G | CA443251502 | DNAH5 | n.1319T>C c.6388T>C (p.Leu2130=) c.6343T>C (p.Leu2115=) n.6595T>C c.6496T>C (p.Leu2166=) c.5401T>C (p.Leu1801=) c.1585T>C (p.Leu529=) c.1138T>C (p.Leu380=) c.475T>C (p.Leu159=) c.4990T>C (p.Leu1664=) n.6513T>C | |
5 | g.13829566A>T | CA359199957 | DNAH5 | n.1319T>A c.6388T>A (p.Leu2130Met) c.6343T>A (p.Leu2115Met) n.6595T>A c.6496T>A (p.Leu2166Met) c.5401T>A (p.Leu1801Met) c.1585T>A (p.Leu529Met) c.1138T>A (p.Leu380Met) c.475T>A (p.Leu159Met) c.4990T>A (p.Leu1664Met) n.6513T>A | |
5 | g.13829567A>C | CA443251508 | DNAH5 | n.1318T>G c.6387T>G (p.Val2129=) c.6342T>G (p.Val2114=) n.6594T>G c.6495T>G (p.Val2165=) c.5400T>G (p.Val1800=) c.1584T>G (p.Val528=) c.1137T>G (p.Val379=) c.474T>G (p.Val158=) c.4989T>G (p.Val1663=) n.6512T>G | |
5 | g.13829567A>G | CA443251507 | DNAH5 | n.1318T>C c.6387T>C (p.Val2129=) c.6342T>C (p.Val2114=) n.6594T>C c.6495T>C (p.Val2165=) c.5400T>C (p.Val1800=) c.1584T>C (p.Val528=) c.1137T>C (p.Val379=) c.474T>C (p.Val158=) c.4989T>C (p.Val1663=) n.6512T>C | |
5 | g.13829567A>T | CA443251505 | DNAH5 | n.1318T>A c.6387T>A (p.Val2129=) c.6342T>A (p.Val2114=) n.6594T>A c.6495T>A (p.Val2165=) c.5400T>A (p.Val1800=) c.1584T>A (p.Val528=) c.1137T>A (p.Val379=) c.474T>A (p.Val158=) c.4989T>A (p.Val1663=) n.6512T>A | gnomAD v4 |
5 | g.13829568A>C | CA359199960 | DNAH5 | n.1317T>G c.6386T>G (p.Val2129Gly) c.6341T>G (p.Val2114Gly) n.6593T>G c.6494T>G (p.Val2165Gly) c.5399T>G (p.Val1800Gly) c.1583T>G (p.Val528Gly) c.1136T>G (p.Val379Gly) c.473T>G (p.Val158Gly) c.4988T>G (p.Val1663Gly) n.6511T>G | |
5 | g.13829568A>G | CA359199958 | DNAH5 | n.1317T>C c.6386T>C (p.Val2129Ala) c.6341T>C (p.Val2114Ala) n.6593T>C c.6494T>C (p.Val2165Ala) c.5399T>C (p.Val1800Ala) c.1583T>C (p.Val528Ala) c.1136T>C (p.Val379Ala) c.473T>C (p.Val158Ala) c.4988T>C (p.Val1663Ala) n.6511T>C | |
5 | g.13829568A>T | CA359199959 | DNAH5 | n.1317T>A c.6386T>A (p.Val2129Asp) c.6341T>A (p.Val2114Asp) n.6593T>A c.6494T>A (p.Val2165Asp) c.5399T>A (p.Val1800Asp) c.1583T>A (p.Val528Asp) c.1136T>A (p.Val379Asp) c.473T>A (p.Val158Asp) c.4988T>A (p.Val1663Asp) n.6511T>A | |
5 | g.13829569C>A | CA359199961 | DNAH5 | n.1316G>T c.6385G>T (p.Val2129Phe) c.6340G>T (p.Val2114Phe) n.6592G>T c.6493G>T (p.Val2165Phe) c.5398G>T (p.Val1800Phe) c.1582G>T (p.Val528Phe) c.1135G>T (p.Val379Phe) c.472G>T (p.Val158Phe) c.4987G>T (p.Val1663Phe) n.6510G>T | |
5 | g.13829569C= | CA1528458080 | DNAH5 | n.1316G= c.6385G= (p.Val2129=) c.6340G= (p.Val2114=) n.6592G= c.6493G= (p.Val2165=) c.5398G= (p.Val1800=) c.1582G= (p.Val528=) c.1135G= (p.Val379=) c.472G= (p.Val158=) c.4987G= (p.Val1663=) n.6510G= | |
5 | g.13829569C>G | CA3203420 | DNAH5 | n.1316G>C c.6385G>C (p.Val2129Leu) c.6340G>C (p.Val2114Leu) n.6592G>C c.6493G>C (p.Val2165Leu) c.5398G>C (p.Val1800Leu) c.1582G>C (p.Val528Leu) c.1135G>C (p.Val379Leu) c.472G>C (p.Val158Leu) c.4987G>C (p.Val1663Leu) n.6510G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829569C>T | CA359199962 | DNAH5 | n.1316G>A c.6385G>A (p.Val2129Ile) c.6340G>A (p.Val2114Ile) n.6592G>A c.6493G>A (p.Val2165Ile) c.5398G>A (p.Val1800Ile) c.1582G>A (p.Val528Ile) c.1135G>A (p.Val379Ile) c.472G>A (p.Val158Ile) c.4987G>A (p.Val1663Ile) n.6510G>A | |
5 | g.13829570A>C | CA443251512 | DNAH5 | n.1315T>G c.6384T>G (p.Val2128=) c.6339T>G (p.Val2113=) n.6591T>G c.6492T>G (p.Val2164=) c.5397T>G (p.Val1799=) c.1581T>G (p.Val527=) c.1134T>G (p.Val378=) c.471T>G (p.Val157=) c.4986T>G (p.Val1662=) n.6509T>G | |
5 | g.13829570A>G | CA443251515 | DNAH5 | n.1315T>C c.6384T>C (p.Val2128=) c.6339T>C (p.Val2113=) n.6591T>C c.6492T>C (p.Val2164=) c.5397T>C (p.Val1799=) c.1581T>C (p.Val527=) c.1134T>C (p.Val378=) c.471T>C (p.Val157=) c.4986T>C (p.Val1662=) n.6509T>C | |
5 | g.13829570A>T | CA443251513 | DNAH5 | n.1315T>A c.6384T>A (p.Val2128=) c.6339T>A (p.Val2113=) n.6591T>A c.6492T>A (p.Val2164=) c.5397T>A (p.Val1799=) c.1581T>A (p.Val527=) c.1134T>A (p.Val378=) c.471T>A (p.Val157=) c.4986T>A (p.Val1662=) n.6509T>A | |
5 | g.13829571A= | CA1528458081 | DNAH5 | n.1314T= c.6383T= (p.Val2128=) c.6338T= (p.Val2113=) n.6590T= c.6491T= (p.Val2164=) c.5396T= (p.Val1799=) c.1580T= (p.Val527=) c.1133T= (p.Val378=) c.470T= (p.Val157=) c.4985T= (p.Val1662=) n.6508T= | |
5 | g.13829571A>C | CA359199963 | DNAH5 | n.1314T>G c.6383T>G (p.Val2128Gly) c.6338T>G (p.Val2113Gly) n.6590T>G c.6491T>G (p.Val2164Gly) c.5396T>G (p.Val1799Gly) c.1580T>G (p.Val527Gly) c.1133T>G (p.Val378Gly) c.470T>G (p.Val157Gly) c.4985T>G (p.Val1662Gly) n.6508T>G | |
5 | g.13829571A>G | CA359199964 | DNAH5 | n.1314T>C c.6383T>C (p.Val2128Ala) c.6338T>C (p.Val2113Ala) n.6590T>C c.6491T>C (p.Val2164Ala) c.5396T>C (p.Val1799Ala) c.1580T>C (p.Val527Ala) c.1133T>C (p.Val378Ala) c.470T>C (p.Val157Ala) c.4985T>C (p.Val1662Ala) n.6508T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829571A>T | CA359199965 | DNAH5 | n.1314T>A c.6383T>A (p.Val2128Asp) c.6338T>A (p.Val2113Asp) n.6590T>A c.6491T>A (p.Val2164Asp) c.5396T>A (p.Val1799Asp) c.1580T>A (p.Val527Asp) c.1133T>A (p.Val378Asp) c.470T>A (p.Val157Asp) c.4985T>A (p.Val1662Asp) n.6508T>A | |
5 | g.13829572C>A | CA359199966 | DNAH5 | n.1313G>T c.6382G>T (p.Val2128Phe) c.6337G>T (p.Val2113Phe) n.6589G>T c.6490G>T (p.Val2164Phe) c.5395G>T (p.Val1799Phe) c.1579G>T (p.Val527Phe) c.1132G>T (p.Val378Phe) c.469G>T (p.Val157Phe) c.4984G>T (p.Val1662Phe) n.6507G>T | gnomAD v4 |
5 | g.13829572C= | CA1528458082 | DNAH5 | n.1313G= c.6382G= (p.Val2128=) c.6337G= (p.Val2113=) n.6589G= c.6490G= (p.Val2164=) c.5395G= (p.Val1799=) c.1579G= (p.Val527=) c.1132G= (p.Val378=) c.469G= (p.Val157=) c.4984G= (p.Val1662=) n.6507G= | |
5 | g.13829572C>G | CA359199967 | DNAH5 | n.1313G>C c.6382G>C (p.Val2128Leu) c.6337G>C (p.Val2113Leu) n.6589G>C c.6490G>C (p.Val2164Leu) c.5395G>C (p.Val1799Leu) c.1579G>C (p.Val527Leu) c.1132G>C (p.Val378Leu) c.469G>C (p.Val157Leu) c.4984G>C (p.Val1662Leu) n.6507G>C | |
5 | g.13829572C>T | CA3203421 | DNAH5 | n.1313G>A c.6382G>A (p.Val2128Ile) c.6337G>A (p.Val2113Ile) n.6589G>A c.6490G>A (p.Val2164Ile) c.5395G>A (p.Val1799Ile) c.1579G>A (p.Val527Ile) c.1132G>A (p.Val378Ile) c.469G>A (p.Val157Ile) c.4984G>A (p.Val1662Ile) n.6507G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13829573G>A | CA3203422 | DNAH5 | n.1312C>T c.6381C>T (p.Asn2127=) c.6336C>T (p.Asn2112=) n.6588C>T c.6489C>T (p.Asn2163=) c.5394C>T (p.Asn1798=) c.1578C>T (p.Asn526=) c.1131C>T (p.Asn377=) c.468C>T (p.Asn156=) c.4983C>T (p.Asn1661=) n.6506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13829573G>C | CA359199968 | DNAH5 | n.1312C>G c.6381C>G (p.Asn2127Lys) c.6336C>G (p.Asn2112Lys) n.6588C>G c.6489C>G (p.Asn2163Lys) c.5394C>G (p.Asn1798Lys) c.1578C>G (p.Asn526Lys) c.1131C>G (p.Asn377Lys) c.468C>G (p.Asn156Lys) c.4983C>G (p.Asn1661Lys) n.6506C>G | |
5 | g.13829573G= | CA1528458083 | DNAH5 | n.1312C= c.6381C= (p.Asn2127=) c.6336C= (p.Asn2112=) n.6588C= c.6489C= (p.Asn2163=) c.5394C= (p.Asn1798=) c.1578C= (p.Asn526=) c.1131C= (p.Asn377=) c.468C= (p.Asn156=) c.4983C= (p.Asn1661=) n.6506C= | |
5 | g.13829573G>T | CA359199969 | DNAH5 | n.1312C>A c.6381C>A (p.Asn2127Lys) c.6336C>A (p.Asn2112Lys) n.6588C>A c.6489C>A (p.Asn2163Lys) c.5394C>A (p.Asn1798Lys) c.1578C>A (p.Asn526Lys) c.1131C>A (p.Asn377Lys) c.468C>A (p.Asn156Lys) c.4983C>A (p.Asn1661Lys) n.6506C>A | dbSNP |
5 | g.13829573_13829575delinsTGCTGAGTGTC | CA2580072031 | DNAH5 | n.1310_1312delinsGACACTCAGCA c.6379_6381delinsGACACTCAGCA (p.Asn2127AspfsTer?) c.6334_6336delinsGACACTCAGCA (p.Asn2112AspfsTer?) n.6586_6588delinsGACACTCAGCA c.6487_6489delinsGACACTCAGCA (p.Asn2163AspfsTer?) c.5392_5394delinsGACACTCAGCA (p.Asn1798AspfsTer?) c.1576_1578delinsGACACTCAGCA (p.Asn526AspfsTer?) c.1129_1131delinsGACACTCAGCA (p.Asn377AspfsTer?) c.466_468delinsGACACTCAGCA (p.Asn156AspfsTer?) c.4981_4983delinsGACACTCAGCA (p.Asn1661AspfsTer?) n.6504_6506delinsGACACTCAGCA | ClinVar |
5 | g.13829575_13829577del | CA2580617575 | DNAH5 | n.1310_1312del c.6379_6381del (p.Asn2127del) c.6334_6336del (p.Asn2112del) n.6586_6588del c.6487_6489del (p.Asn2163del) c.5392_5394del (p.Asn1798del) c.1576_1578del (p.Asn526del) c.1129_1131del (p.Asn377del) c.466_468del (p.Asn156del) c.4981_4983del (p.Asn1661del) n.6504_6506del | gnomAD v4 |
5 | g.13829574T>A | CA359199972 | DNAH5 | n.1311A>T c.6380A>T (p.Asn2127Ile) c.6335A>T (p.Asn2112Ile) n.6587A>T c.6488A>T (p.Asn2163Ile) c.5393A>T (p.Asn1798Ile) c.1577A>T (p.Asn526Ile) c.1130A>T (p.Asn377Ile) c.467A>T (p.Asn156Ile) c.4982A>T (p.Asn1661Ile) n.6505A>T | |
5 | g.13829574T>C | CA359199971 | DNAH5 | n.1311A>G c.6380A>G (p.Asn2127Ser) c.6335A>G (p.Asn2112Ser) n.6587A>G c.6488A>G (p.Asn2163Ser) c.5393A>G (p.Asn1798Ser) c.1577A>G (p.Asn526Ser) c.1130A>G (p.Asn377Ser) c.467A>G (p.Asn156Ser) c.4982A>G (p.Asn1661Ser) n.6505A>G | gnomAD v4 |
5 | g.13829574T>G | CA359199970 | DNAH5 | n.1311A>C c.6380A>C (p.Asn2127Thr) c.6335A>C (p.Asn2112Thr) n.6587A>C c.6488A>C (p.Asn2163Thr) c.5393A>C (p.Asn1798Thr) c.1577A>C (p.Asn526Thr) c.1130A>C (p.Asn377Thr) c.467A>C (p.Asn156Thr) c.4982A>C (p.Asn1661Thr) n.6505A>C | |
5 | g.13829575T>A | CA359199975 | DNAH5 | n.1310A>T c.6379A>T (p.Asn2127Tyr) c.6334A>T (p.Asn2112Tyr) n.6586A>T c.6487A>T (p.Asn2163Tyr) c.5392A>T (p.Asn1798Tyr) c.1576A>T (p.Asn526Tyr) c.1129A>T (p.Asn377Tyr) c.466A>T (p.Asn156Tyr) c.4981A>T (p.Asn1661Tyr) n.6504A>T | |
5 | g.13829575T>C | CA359199973 | DNAH5 | n.1310A>G c.6379A>G (p.Asn2127Asp) c.6334A>G (p.Asn2112Asp) n.6586A>G c.6487A>G (p.Asn2163Asp) c.5392A>G (p.Asn1798Asp) c.1576A>G (p.Asn526Asp) c.1129A>G (p.Asn377Asp) c.466A>G (p.Asn156Asp) c.4981A>G (p.Asn1661Asp) n.6504A>G | gnomAD v4 |
5 | g.13829575T>G | CA359199974 | DNAH5 | n.1310A>C c.6379A>C (p.Asn2127His) c.6334A>C (p.Asn2112His) n.6586A>C c.6487A>C (p.Asn2163His) c.5392A>C (p.Asn1798His) c.1576A>C (p.Asn526His) c.1129A>C (p.Asn377His) c.466A>C (p.Asn156His) c.4981A>C (p.Asn1661His) n.6504A>C | |
5 | g.13829576G>A | CA443251522 | DNAH5 | n.1309C>T c.6378C>T (p.Asp2126=) c.6333C>T (p.Asp2111=) n.6585C>T c.6486C>T (p.Asp2162=) c.5391C>T (p.Asp1797=) c.1575C>T (p.Asp525=) c.1128C>T (p.Asp376=) c.465C>T (p.Asp155=) c.4980C>T (p.Asp1660=) n.6503C>T | gnomAD v4 |
5 | g.13829576G>C | CA359199976 | DNAH5 | n.1309C>G c.6378C>G (p.Asp2126Glu) c.6333C>G (p.Asp2111Glu) n.6585C>G c.6486C>G (p.Asp2162Glu) c.5391C>G (p.Asp1797Glu) c.1575C>G (p.Asp525Glu) c.1128C>G (p.Asp376Glu) c.465C>G (p.Asp155Glu) c.4980C>G (p.Asp1660Glu) n.6503C>G | |
5 | g.13829576G= | CA1528458084 | DNAH5 | n.1309C= c.6378C= (p.Asp2126=) c.6333C= (p.Asp2111=) n.6585C= c.6486C= (p.Asp2162=) c.5391C= (p.Asp1797=) c.1575C= (p.Asp525=) c.1128C= (p.Asp376=) c.465C= (p.Asp155=) c.4980C= (p.Asp1660=) n.6503C= | |
5 | g.13829576G>T | CA359199977 | DNAH5 | n.1309C>A c.6378C>A (p.Asp2126Glu) c.6333C>A (p.Asp2111Glu) n.6585C>A c.6486C>A (p.Asp2162Glu) c.5391C>A (p.Asp1797Glu) c.1575C>A (p.Asp525Glu) c.1128C>A (p.Asp376Glu) c.465C>A (p.Asp155Glu) c.4980C>A (p.Asp1660Glu) n.6503C>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829577T>A | CA359199978 | DNAH5 | n.1308A>T c.6377A>T (p.Asp2126Val) c.6332A>T (p.Asp2111Val) n.6584A>T c.6485A>T (p.Asp2162Val) c.5390A>T (p.Asp1797Val) c.1574A>T (p.Asp525Val) c.1127A>T (p.Asp376Val) c.464A>T (p.Asp155Val) c.4979A>T (p.Asp1660Val) n.6502A>T | gnomAD v4 |
5 | g.13829577T>C | CA359199979 | DNAH5 | n.1308A>G c.6377A>G (p.Asp2126Gly) c.6332A>G (p.Asp2111Gly) n.6584A>G c.6485A>G (p.Asp2162Gly) c.5390A>G (p.Asp1797Gly) c.1574A>G (p.Asp525Gly) c.1127A>G (p.Asp376Gly) c.464A>G (p.Asp155Gly) c.4979A>G (p.Asp1660Gly) n.6502A>G | |
5 | g.13829577T>G | CA359199980 | DNAH5 | n.1308A>C c.6377A>C (p.Asp2126Ala) c.6332A>C (p.Asp2111Ala) n.6584A>C c.6485A>C (p.Asp2162Ala) c.5390A>C (p.Asp1797Ala) c.1574A>C (p.Asp525Ala) c.1127A>C (p.Asp376Ala) c.464A>C (p.Asp155Ala) c.4979A>C (p.Asp1660Ala) n.6502A>C | |
5 | g.13829578C>A | CA3203423 | DNAH5 | n.1307G>T c.6376G>T (p.Asp2126Tyr) c.6331G>T (p.Asp2111Tyr) n.6583G>T c.6484G>T (p.Asp2162Tyr) c.5389G>T (p.Asp1797Tyr) c.1573G>T (p.Asp525Tyr) c.1126G>T (p.Asp376Tyr) c.463G>T (p.Asp155Tyr) c.4978G>T (p.Asp1660Tyr) n.6501G>T | dbSNP ExAC gnomAD v2 |
5 | g.13829578C= | CA1528458085 | DNAH5 | n.1307G= c.6376G= (p.Asp2126=) c.6331G= (p.Asp2111=) n.6583G= c.6484G= (p.Asp2162=) c.5389G= (p.Asp1797=) c.1573G= (p.Asp525=) c.1126G= (p.Asp376=) c.463G= (p.Asp155=) c.4978G= (p.Asp1660=) n.6501G= | |
5 | g.13829578C>G | CA359199984 | DNAH5 | n.1307G>C c.6376G>C (p.Asp2126His) c.6331G>C (p.Asp2111His) n.6583G>C c.6484G>C (p.Asp2162His) c.5389G>C (p.Asp1797His) c.1573G>C (p.Asp525His) c.1126G>C (p.Asp376His) c.463G>C (p.Asp155His) c.4978G>C (p.Asp1660His) n.6501G>C | |
5 | g.13829578C>T | CA359199982 | DNAH5 | n.1307G>A c.6376G>A (p.Asp2126Asn) c.6331G>A (p.Asp2111Asn) n.6583G>A c.6484G>A (p.Asp2162Asn) c.5389G>A (p.Asp1797Asn) c.1573G>A (p.Asp525Asn) c.1126G>A (p.Asp376Asn) c.463G>A (p.Asp155Asn) c.4978G>A (p.Asp1660Asn) n.6501G>A | gnomAD v4 |
5 | g.13829579A>C | CA359199986 | DNAH5 | n.1306T>G c.6375T>G (p.Ile2125Met) c.6330T>G (p.Ile2110Met) n.6582T>G c.6483T>G (p.Ile2161Met) c.5388T>G (p.Ile1796Met) c.1572T>G (p.Ile524Met) c.1125T>G (p.Ile375Met) c.462T>G (p.Ile154Met) c.4977T>G (p.Ile1659Met) n.6500T>G | |
5 | g.13829579A>G | CA443251532 | DNAH5 | n.1306T>C c.6375T>C (p.Ile2125=) c.6330T>C (p.Ile2110=) n.6582T>C c.6483T>C (p.Ile2161=) c.5388T>C (p.Ile1796=) c.1572T>C (p.Ile524=) c.1125T>C (p.Ile375=) c.462T>C (p.Ile154=) c.4977T>C (p.Ile1659=) n.6500T>C | gnomAD v4 |
5 | g.13829579A>T | CA443251533 | DNAH5 | n.1306T>A c.6375T>A (p.Ile2125=) c.6330T>A (p.Ile2110=) n.6582T>A c.6483T>A (p.Ile2161=) c.5388T>A (p.Ile1796=) c.1572T>A (p.Ile524=) c.1125T>A (p.Ile375=) c.462T>A (p.Ile154=) c.4977T>A (p.Ile1659=) n.6500T>A | |
5 | g.13829580A>C | CA359199988 | DNAH5 | n.1305T>G c.6374T>G (p.Ile2125Ser) c.6329T>G (p.Ile2110Ser) n.6581T>G c.6482T>G (p.Ile2161Ser) c.5387T>G (p.Ile1796Ser) c.1571T>G (p.Ile524Ser) c.1124T>G (p.Ile375Ser) c.461T>G (p.Ile154Ser) c.4976T>G (p.Ile1659Ser) n.6499T>G | |
5 | g.13829580A>G | CA359199990 | DNAH5 | n.1305T>C c.6374T>C (p.Ile2125Thr) c.6329T>C (p.Ile2110Thr) n.6581T>C c.6482T>C (p.Ile2161Thr) c.5387T>C (p.Ile1796Thr) c.1571T>C (p.Ile524Thr) c.1124T>C (p.Ile375Thr) c.461T>C (p.Ile154Thr) c.4976T>C (p.Ile1659Thr) n.6499T>C | gnomAD v4 |
5 | g.13829580A>T | CA359199992 | DNAH5 | n.1305T>A c.6374T>A (p.Ile2125Asn) c.6329T>A (p.Ile2110Asn) n.6581T>A c.6482T>A (p.Ile2161Asn) c.5387T>A (p.Ile1796Asn) c.1571T>A (p.Ile524Asn) c.1124T>A (p.Ile375Asn) c.461T>A (p.Ile154Asn) c.4976T>A (p.Ile1659Asn) n.6499T>A | |
5 | g.13829581_13829583del | CA645541011 | DNAH5 | n.1303_1305del c.6372_6374del (p.Ile2125del) c.6327_6329del (p.Ile2110del) n.6579_6581del c.6480_6482del (p.Ile2161del) c.5385_5387del (p.Ile1796del) c.1569_1571del (p.Ile524del) c.1122_1124del (p.Ile375del) c.459_461del (p.Ile154del) c.4974_4976del (p.Ile1659del) n.6497_6499del | COSMIC |
5 | g.13829581T>A | CA359199993 | DNAH5 | n.1304A>T c.6373A>T (p.Ile2125Phe) c.6328A>T (p.Ile2110Phe) n.6580A>T c.6481A>T (p.Ile2161Phe) c.5386A>T (p.Ile1796Phe) c.1570A>T (p.Ile524Phe) c.1123A>T (p.Ile375Phe) c.460A>T (p.Ile154Phe) c.4975A>T (p.Ile1659Phe) n.6498A>T | |
5 | g.13829581T>C | CA359199996 | DNAH5 | n.1304A>G c.6373A>G (p.Ile2125Val) c.6328A>G (p.Ile2110Val) n.6580A>G c.6481A>G (p.Ile2161Val) c.5386A>G (p.Ile1796Val) c.1570A>G (p.Ile524Val) c.1123A>G (p.Ile375Val) c.460A>G (p.Ile154Val) c.4975A>G (p.Ile1659Val) n.6498A>G | gnomAD v4 COSMIC |
5 | g.13829581T>G | CA359199994 | DNAH5 | n.1304A>C c.6373A>C (p.Ile2125Leu) c.6328A>C (p.Ile2110Leu) n.6580A>C c.6481A>C (p.Ile2161Leu) c.5386A>C (p.Ile1796Leu) c.1570A>C (p.Ile524Leu) c.1123A>C (p.Ile375Leu) c.460A>C (p.Ile154Leu) c.4975A>C (p.Ile1659Leu) n.6498A>C | dbSNP gnomAD v2 |
5 | g.13829581T= | CA1528458086 | DNAH5 | n.1304A= c.6373A= (p.Ile2125=) c.6328A= (p.Ile2110=) n.6580A= c.6481A= (p.Ile2161=) c.5386A= (p.Ile1796=) c.1570A= (p.Ile524=) c.1123A= (p.Ile375=) c.460A= (p.Ile154=) c.4975A= (p.Ile1659=) n.6498A= | |
5 | g.13829582G>A | CA3203424 | DNAH5 | n.1303C>T c.6372C>T (p.Phe2124=) c.6327C>T (p.Phe2109=) n.6579C>T c.6480C>T (p.Phe2160=) c.5385C>T (p.Phe1795=) c.1569C>T (p.Phe523=) c.1122C>T (p.Phe374=) c.459C>T (p.Phe153=) c.4974C>T (p.Phe1658=) n.6497C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829582G>C | CA359199999 | DNAH5 | n.1303C>G c.6372C>G (p.Phe2124Leu) c.6327C>G (p.Phe2109Leu) n.6579C>G c.6480C>G (p.Phe2160Leu) c.5385C>G (p.Phe1795Leu) c.1569C>G (p.Phe523Leu) c.1122C>G (p.Phe374Leu) c.459C>G (p.Phe153Leu) c.4974C>G (p.Phe1658Leu) n.6497C>G | |
5 | g.13829582G= | CA1528458087 | DNAH5 | n.1303C= c.6372C= (p.Phe2124=) c.6327C= (p.Phe2109=) n.6579C= c.6480C= (p.Phe2160=) c.5385C= (p.Phe1795=) c.1569C= (p.Phe523=) c.1122C= (p.Phe374=) c.459C= (p.Phe153=) c.4974C= (p.Phe1658=) n.6497C= | |
5 | g.13829582G>T | CA359200001 | DNAH5 | n.1303C>A c.6372C>A (p.Phe2124Leu) c.6327C>A (p.Phe2109Leu) n.6579C>A c.6480C>A (p.Phe2160Leu) c.5385C>A (p.Phe1795Leu) c.1569C>A (p.Phe523Leu) c.1122C>A (p.Phe374Leu) c.459C>A (p.Phe153Leu) c.4974C>A (p.Phe1658Leu) n.6497C>A | |
5 | g.13829583A>C | CA359200003 | DNAH5 | n.1302T>G c.6371T>G (p.Phe2124Cys) c.6326T>G (p.Phe2109Cys) n.6578T>G c.6479T>G (p.Phe2160Cys) c.5384T>G (p.Phe1795Cys) c.1568T>G (p.Phe523Cys) c.1121T>G (p.Phe374Cys) c.458T>G (p.Phe153Cys) c.4973T>G (p.Phe1658Cys) n.6496T>G | |
5 | g.13829583A>G | CA359200004 | DNAH5 | n.1302T>C c.6371T>C (p.Phe2124Ser) c.6326T>C (p.Phe2109Ser) n.6578T>C c.6479T>C (p.Phe2160Ser) c.5384T>C (p.Phe1795Ser) c.1568T>C (p.Phe523Ser) c.1121T>C (p.Phe374Ser) c.458T>C (p.Phe153Ser) c.4973T>C (p.Phe1658Ser) n.6496T>C | |
5 | g.13829583A>T | CA359200005 | DNAH5 | n.1302T>A c.6371T>A (p.Phe2124Tyr) c.6326T>A (p.Phe2109Tyr) n.6578T>A c.6479T>A (p.Phe2160Tyr) c.5384T>A (p.Phe1795Tyr) c.1568T>A (p.Phe523Tyr) c.1121T>A (p.Phe374Tyr) c.458T>A (p.Phe153Tyr) c.4973T>A (p.Phe1658Tyr) n.6496T>A | |
5 | g.13829584A>C | CA359200008 | DNAH5 | n.1301T>G c.6370T>G (p.Phe2124Val) c.6325T>G (p.Phe2109Val) n.6577T>G c.6478T>G (p.Phe2160Val) c.5383T>G (p.Phe1795Val) c.1567T>G (p.Phe523Val) c.1120T>G (p.Phe374Val) c.457T>G (p.Phe153Val) c.4972T>G (p.Phe1658Val) n.6495T>G | |
5 | g.13829584A>G | CA359200010 | DNAH5 | n.1301T>C c.6370T>C (p.Phe2124Leu) c.6325T>C (p.Phe2109Leu) n.6577T>C c.6478T>C (p.Phe2160Leu) c.5383T>C (p.Phe1795Leu) c.1567T>C (p.Phe523Leu) c.1120T>C (p.Phe374Leu) c.457T>C (p.Phe153Leu) c.4972T>C (p.Phe1658Leu) n.6495T>C | |
5 | g.13829584A>T | CA359200012 | DNAH5 | n.1301T>A c.6370T>A (p.Phe2124Ile) c.6325T>A (p.Phe2109Ile) n.6577T>A c.6478T>A (p.Phe2160Ile) c.5383T>A (p.Phe1795Ile) c.1567T>A (p.Phe523Ile) c.1120T>A (p.Phe374Ile) c.457T>A (p.Phe153Ile) c.4972T>A (p.Phe1658Ile) n.6495T>A | |
5 | g.13829585G>A | CA443251541 | DNAH5 | n.1300C>T c.6369C>T (p.Gly2123=) c.6324C>T (p.Gly2108=) n.6576C>T c.6477C>T (p.Gly2159=) c.5382C>T (p.Gly1794=) c.1566C>T (p.Gly522=) c.1119C>T (p.Gly373=) c.456C>T (p.Gly152=) c.4971C>T (p.Gly1657=) n.6494C>T | |
5 | g.13829585G>C | CA443251542 | DNAH5 | n.1300C>G c.6369C>G (p.Gly2123=) c.6324C>G (p.Gly2108=) n.6576C>G c.6477C>G (p.Gly2159=) c.5382C>G (p.Gly1794=) c.1566C>G (p.Gly522=) c.1119C>G (p.Gly373=) c.456C>G (p.Gly152=) c.4971C>G (p.Gly1657=) n.6494C>G | |
5 | g.13829585G>T | CA443251543 | DNAH5 | n.1300C>A c.6369C>A (p.Gly2123=) c.6324C>A (p.Gly2108=) n.6576C>A c.6477C>A (p.Gly2159=) c.5382C>A (p.Gly1794=) c.1566C>A (p.Gly522=) c.1119C>A (p.Gly373=) c.456C>A (p.Gly152=) c.4971C>A (p.Gly1657=) n.6494C>A | |
5 | g.13829586C>A | CA359200014 | DNAH5 | n.1299G>T c.6368G>T (p.Gly2123Val) c.6323G>T (p.Gly2108Val) n.6575G>T c.6476G>T (p.Gly2159Val) c.5381G>T (p.Gly1794Val) c.1565G>T (p.Gly522Val) c.1118G>T (p.Gly373Val) c.455G>T (p.Gly152Val) c.4970G>T (p.Gly1657Val) n.6493G>T | gnomAD v4 |
5 | g.13829586C>G | CA359200016 | DNAH5 | n.1299G>C c.6368G>C (p.Gly2123Ala) c.6323G>C (p.Gly2108Ala) n.6575G>C c.6476G>C (p.Gly2159Ala) c.5381G>C (p.Gly1794Ala) c.1565G>C (p.Gly522Ala) c.1118G>C (p.Gly373Ala) c.455G>C (p.Gly152Ala) c.4970G>C (p.Gly1657Ala) n.6493G>C | |
5 | g.13829586C>T | CA359200018 | DNAH5 | n.1299G>A c.6368G>A (p.Gly2123Asp) c.6323G>A (p.Gly2108Asp) n.6575G>A c.6476G>A (p.Gly2159Asp) c.5381G>A (p.Gly1794Asp) c.1565G>A (p.Gly522Asp) c.1118G>A (p.Gly373Asp) c.455G>A (p.Gly152Asp) c.4970G>A (p.Gly1657Asp) n.6493G>A | |
5 | g.13829587del | CA2573138475 | DNAH5 | n.1299del c.6368del (p.Gly2123AlafsTer?) c.6323del (p.Gly2108AlafsTer?) n.6575del c.6476del (p.Gly2159AlafsTer?) c.5381del (p.Gly1794AlafsTer?) c.1565del (p.Gly522AlafsTer?) c.1118del (p.Gly373AlafsTer?) c.455del (p.Gly152AlafsTer?) c.4970del (p.Gly1657AlafsTer?) n.6493del | ClinVar dbSNP |
5 | g.13829587C>A | CA359200020 | DNAH5 | n.1298G>T c.6367G>T (p.Gly2123Cys) c.6322G>T (p.Gly2108Cys) n.6574G>T c.6475G>T (p.Gly2159Cys) c.5380G>T (p.Gly1794Cys) c.1564G>T (p.Gly522Cys) c.1117G>T (p.Gly373Cys) c.454G>T (p.Gly152Cys) c.4969G>T (p.Gly1657Cys) n.6492G>T | |
5 | g.13829587C>G | CA359200021 | DNAH5 | n.1298G>C c.6367G>C (p.Gly2123Arg) c.6322G>C (p.Gly2108Arg) n.6574G>C c.6475G>C (p.Gly2159Arg) c.5380G>C (p.Gly1794Arg) c.1564G>C (p.Gly522Arg) c.1117G>C (p.Gly373Arg) c.454G>C (p.Gly152Arg) c.4969G>C (p.Gly1657Arg) n.6492G>C | |
5 | g.13829587C>T | CA359200019 | DNAH5 | n.1298G>A c.6367G>A (p.Gly2123Ser) c.6322G>A (p.Gly2108Ser) n.6574G>A c.6475G>A (p.Gly2159Ser) c.5380G>A (p.Gly1794Ser) c.1564G>A (p.Gly522Ser) c.1117G>A (p.Gly373Ser) c.454G>A (p.Gly152Ser) c.4969G>A (p.Gly1657Ser) n.6492G>A | |
5 | g.13829588A= | CA1528458088 | DNAH5 | n.1297T= c.6366T= (p.Cys2122=) c.6321T= (p.Cys2107=) n.6573T= c.6474T= (p.Cys2158=) c.5379T= (p.Cys1793=) c.1563T= (p.Cys521=) c.1116T= (p.Cys372=) c.453T= (p.Cys151=) c.4968T= (p.Cys1656=) n.6491T= | |
5 | g.13829588A>C | CA359200023 | DNAH5 | n.1297T>G c.6366T>G (p.Cys2122Trp) c.6321T>G (p.Cys2107Trp) n.6573T>G c.6474T>G (p.Cys2158Trp) c.5379T>G (p.Cys1793Trp) c.1563T>G (p.Cys521Trp) c.1116T>G (p.Cys372Trp) c.453T>G (p.Cys151Trp) c.4968T>G (p.Cys1656Trp) n.6491T>G | |
5 | g.13829588A>G | CA443251548 | DNAH5 | n.1297T>C c.6366T>C (p.Cys2122=) c.6321T>C (p.Cys2107=) n.6573T>C c.6474T>C (p.Cys2158=) c.5379T>C (p.Cys1793=) c.1563T>C (p.Cys521=) c.1116T>C (p.Cys372=) c.453T>C (p.Cys151=) c.4968T>C (p.Cys1656=) n.6491T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829588A>T | CA359200024 | DNAH5 | n.1297T>A c.6366T>A (p.Cys2122Ter) c.6321T>A (p.Cys2107Ter) n.6573T>A c.6474T>A (p.Cys2158Ter) c.5379T>A (p.Cys1793Ter) c.1563T>A (p.Cys521Ter) c.1116T>A (p.Cys372Ter) c.453T>A (p.Cys151Ter) c.4968T>A (p.Cys1656Ter) n.6491T>A | |
5 | g.13829588_13829589delinsAC | CA1528458089 | DNAH5 | n.1296_1297delinsGT c.6365_6366delinsGT (p.Cys2122=) c.6320_6321delinsGT (p.Cys2107=) n.6572_6573delinsGT c.6473_6474delinsGT (p.Cys2158=) c.5378_5379delinsGT (p.Cys1793=) c.1562_1563delinsGT (p.Cys521=) c.1115_1116delinsGT (p.Cys372=) c.452_453delinsGT (p.Cys151=) c.4967_4968delinsGT (p.Cys1656=) n.6490_6491delinsGT | |
5 | g.13829589del | CA1528458090 | DNAH5 | n.1296del c.6365del (p.Cys2122LeufsTer?) c.6320del (p.Cys2107LeufsTer?) n.6572del c.6473del (p.Cys2158LeufsTer?) c.5378del (p.Cys1793LeufsTer?) c.1562del (p.Cys521LeufsTer?) c.1115del (p.Cys372LeufsTer?) c.452del (p.Cys151LeufsTer?) c.4967del (p.Cys1656LeufsTer?) n.6490del | dbSNP |
5 | g.13829589C>A | CA359200026 | DNAH5 | n.1296G>T c.6365G>T (p.Cys2122Phe) c.6320G>T (p.Cys2107Phe) n.6572G>T c.6473G>T (p.Cys2158Phe) c.5378G>T (p.Cys1793Phe) c.1562G>T (p.Cys521Phe) c.1115G>T (p.Cys372Phe) c.452G>T (p.Cys151Phe) c.4967G>T (p.Cys1656Phe) n.6490G>T | |
5 | g.13829589C= | CA1528458091 | DNAH5 | n.1296G= c.6365G= (p.Cys2122=) c.6320G= (p.Cys2107=) n.6572G= c.6473G= (p.Cys2158=) c.5378G= (p.Cys1793=) c.1562G= (p.Cys521=) c.1115G= (p.Cys372=) c.452G= (p.Cys151=) c.4967G= (p.Cys1656=) n.6490G= | |
5 | g.13829589C>G | CA359200028 | DNAH5 | n.1296G>C c.6365G>C (p.Cys2122Ser) c.6320G>C (p.Cys2107Ser) n.6572G>C c.6473G>C (p.Cys2158Ser) c.5378G>C (p.Cys1793Ser) c.1562G>C (p.Cys521Ser) c.1115G>C (p.Cys372Ser) c.452G>C (p.Cys151Ser) c.4967G>C (p.Cys1656Ser) n.6490G>C | |
5 | g.13829589C>T | CA3203425 | DNAH5 | n.1296G>A c.6365G>A (p.Cys2122Tyr) c.6320G>A (p.Cys2107Tyr) n.6572G>A c.6473G>A (p.Cys2158Tyr) c.5378G>A (p.Cys1793Tyr) c.1562G>A (p.Cys521Tyr) c.1115G>A (p.Cys372Tyr) c.452G>A (p.Cys151Tyr) c.4967G>A (p.Cys1656Tyr) n.6490G>A | dbSNP ExAC |
5 | g.13829590A= | CA1528458092 | DNAH5 | n.1295T= c.6364T= (p.Cys2122=) c.6319T= (p.Cys2107=) n.6571T= c.6472T= (p.Cys2158=) c.5377T= (p.Cys1793=) c.1561T= (p.Cys521=) c.1114T= (p.Cys372=) c.451T= (p.Cys151=) c.4966T= (p.Cys1656=) n.6489T= | |
5 | g.13829590A>C | CA359200031 | DNAH5 | n.1295T>G c.6364T>G (p.Cys2122Gly) c.6319T>G (p.Cys2107Gly) n.6571T>G c.6472T>G (p.Cys2158Gly) c.5377T>G (p.Cys1793Gly) c.1561T>G (p.Cys521Gly) c.1114T>G (p.Cys372Gly) c.451T>G (p.Cys151Gly) c.4966T>G (p.Cys1656Gly) n.6489T>G | |
5 | g.13829590A>G | CA359200033 | DNAH5 | n.1295T>C c.6364T>C (p.Cys2122Arg) c.6319T>C (p.Cys2107Arg) n.6571T>C c.6472T>C (p.Cys2158Arg) c.5377T>C (p.Cys1793Arg) c.1561T>C (p.Cys521Arg) c.1114T>C (p.Cys372Arg) c.451T>C (p.Cys151Arg) c.4966T>C (p.Cys1656Arg) n.6489T>C | dbSNP |
5 | g.13829590A>T | CA359200035 | DNAH5 | n.1295T>A c.6364T>A (p.Cys2122Ser) c.6319T>A (p.Cys2107Ser) n.6571T>A c.6472T>A (p.Cys2158Ser) c.5377T>A (p.Cys1793Ser) c.1561T>A (p.Cys521Ser) c.1114T>A (p.Cys372Ser) c.451T>A (p.Cys151Ser) c.4966T>A (p.Cys1656Ser) n.6489T>A | |
5 | g.13829591A= | CA1528458093 | DNAH5 | n.1294T= c.6363T= (p.Ser2121=) c.6318T= (p.Ser2106=) n.6570T= c.6471T= (p.Ser2157=) c.5376T= (p.Ser1792=) c.1560T= (p.Ser520=) c.1113T= (p.Ser371=) c.450T= (p.Ser150=) c.4965T= (p.Ser1655=) n.6488T= | |
5 | g.13829591A>C | CA359200037 | DNAH5 | n.1294T>G c.6363T>G (p.Ser2121Arg) c.6318T>G (p.Ser2106Arg) n.6570T>G c.6471T>G (p.Ser2157Arg) c.5376T>G (p.Ser1792Arg) c.1560T>G (p.Ser520Arg) c.1113T>G (p.Ser371Arg) c.450T>G (p.Ser150Arg) c.4965T>G (p.Ser1655Arg) n.6488T>G | |
5 | g.13829591A>G | CA113937674 | DNAH5 | n.1294T>C c.6363T>C (p.Ser2121=) c.6318T>C (p.Ser2106=) n.6570T>C c.6471T>C (p.Ser2157=) c.5376T>C (p.Ser1792=) c.1560T>C (p.Ser520=) c.1113T>C (p.Ser371=) c.450T>C (p.Ser150=) c.4965T>C (p.Ser1655=) n.6488T>C | ClinVar dbSNP |
5 | g.13829591A>T | CA359200039 | DNAH5 | n.1294T>A c.6363T>A (p.Ser2121Arg) c.6318T>A (p.Ser2106Arg) n.6570T>A c.6471T>A (p.Ser2157Arg) c.5376T>A (p.Ser1792Arg) c.1560T>A (p.Ser520Arg) c.1113T>A (p.Ser371Arg) c.450T>A (p.Ser150Arg) c.4965T>A (p.Ser1655Arg) n.6488T>A | |
5 | g.13829592C>A | CA359200042 | DNAH5 | n.1293G>T c.6362G>T (p.Ser2121Ile) c.6317G>T (p.Ser2106Ile) n.6569G>T c.6470G>T (p.Ser2157Ile) c.5375G>T (p.Ser1792Ile) c.1559G>T (p.Ser520Ile) c.1112G>T (p.Ser371Ile) c.449G>T (p.Ser150Ile) c.4964G>T (p.Ser1655Ile) n.6487G>T | |
5 | g.13829592C>G | CA359200044 | DNAH5 | n.1293G>C c.6362G>C (p.Ser2121Thr) c.6317G>C (p.Ser2106Thr) n.6569G>C c.6470G>C (p.Ser2157Thr) c.5375G>C (p.Ser1792Thr) c.1559G>C (p.Ser520Thr) c.1112G>C (p.Ser371Thr) c.449G>C (p.Ser150Thr) c.4964G>C (p.Ser1655Thr) n.6487G>C | |
5 | g.13829592C>T | CA359200049 | DNAH5 | n.1293G>A c.6362G>A (p.Ser2121Asn) c.6317G>A (p.Ser2106Asn) n.6569G>A c.6470G>A (p.Ser2157Asn) c.5375G>A (p.Ser1792Asn) c.1559G>A (p.Ser520Asn) c.1112G>A (p.Ser371Asn) c.449G>A (p.Ser150Asn) c.4964G>A (p.Ser1655Asn) n.6487G>A | |
5 | g.13829593T>A | CA359200054 | DNAH5 | n.1292A>T c.6361A>T (p.Ser2121Cys) c.6316A>T (p.Ser2106Cys) n.6568A>T c.6469A>T (p.Ser2157Cys) c.5374A>T (p.Ser1792Cys) c.1558A>T (p.Ser520Cys) c.1111A>T (p.Ser371Cys) c.448A>T (p.Ser150Cys) c.4963A>T (p.Ser1655Cys) n.6486A>T | |
5 | g.13829593T>C | CA359200052 | DNAH5 | n.1292A>G c.6361A>G (p.Ser2121Gly) c.6316A>G (p.Ser2106Gly) n.6568A>G c.6469A>G (p.Ser2157Gly) c.5374A>G (p.Ser1792Gly) c.1558A>G (p.Ser520Gly) c.1111A>G (p.Ser371Gly) c.448A>G (p.Ser150Gly) c.4963A>G (p.Ser1655Gly) n.6486A>G | gnomAD v4 |
5 | g.13829593T>G | CA3203426 | DNAH5 | n.1292A>C c.6361A>C (p.Ser2121Arg) c.6316A>C (p.Ser2106Arg) n.6568A>C c.6469A>C (p.Ser2157Arg) c.5374A>C (p.Ser1792Arg) c.1558A>C (p.Ser520Arg) c.1111A>C (p.Ser371Arg) c.448A>C (p.Ser150Arg) c.4963A>C (p.Ser1655Arg) n.6486A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829593T= | CA1528458094 | DNAH5 | n.1292A= c.6361A= (p.Ser2121=) c.6316A= (p.Ser2106=) n.6568A= c.6469A= (p.Ser2157=) c.5374A= (p.Ser1792=) c.1558A= (p.Ser520=) c.1111A= (p.Ser371=) c.448A= (p.Ser150=) c.4963A= (p.Ser1655=) n.6486A= | |
5 | g.13829594A>C | CA443251555 | DNAH5 | n.1291T>G c.6360T>G (p.Ala2120=) c.6315T>G (p.Ala2105=) n.6567T>G c.6468T>G (p.Ala2156=) c.5373T>G (p.Ala1791=) c.1557T>G (p.Ala519=) c.1110T>G (p.Ala370=) c.447T>G (p.Ala149=) c.4962T>G (p.Ala1654=) n.6485T>G | |
5 | g.13829594A>G | CA443251556 | DNAH5 | n.1291T>C c.6360T>C (p.Ala2120=) c.6315T>C (p.Ala2105=) n.6567T>C c.6468T>C (p.Ala2156=) c.5373T>C (p.Ala1791=) c.1557T>C (p.Ala519=) c.1110T>C (p.Ala370=) c.447T>C (p.Ala149=) c.4962T>C (p.Ala1654=) n.6485T>C | |
5 | g.13829594A>T | CA443251557 | DNAH5 | n.1291T>A c.6360T>A (p.Ala2120=) c.6315T>A (p.Ala2105=) n.6567T>A c.6468T>A (p.Ala2156=) c.5373T>A (p.Ala1791=) c.1557T>A (p.Ala519=) c.1110T>A (p.Ala370=) c.447T>A (p.Ala149=) c.4962T>A (p.Ala1654=) n.6485T>A | |
5 | g.13829595G>A | CA359200057 | DNAH5 | n.1290C>T c.6359C>T (p.Ala2120Val) c.6314C>T (p.Ala2105Val) n.6566C>T c.6467C>T (p.Ala2156Val) c.5372C>T (p.Ala1791Val) c.1556C>T (p.Ala519Val) c.1109C>T (p.Ala370Val) c.446C>T (p.Ala149Val) c.4961C>T (p.Ala1654Val) n.6484C>T | |
5 | g.13829595G>C | CA359200058 | DNAH5 | n.1290C>G c.6359C>G (p.Ala2120Gly) c.6314C>G (p.Ala2105Gly) n.6566C>G c.6467C>G (p.Ala2156Gly) c.5372C>G (p.Ala1791Gly) c.1556C>G (p.Ala519Gly) c.1109C>G (p.Ala370Gly) c.446C>G (p.Ala149Gly) c.4961C>G (p.Ala1654Gly) n.6484C>G | |
5 | g.13829595G= | CA1528458095 | DNAH5 | n.1290C= c.6359C= (p.Ala2120=) c.6314C= (p.Ala2105=) n.6566C= c.6467C= (p.Ala2156=) c.5372C= (p.Ala1791=) c.1556C= (p.Ala519=) c.1109C= (p.Ala370=) c.446C= (p.Ala149=) c.4961C= (p.Ala1654=) n.6484C= | |
5 | g.13829595G>T | CA359200060 | DNAH5 | n.1290C>A c.6359C>A (p.Ala2120Asp) c.6314C>A (p.Ala2105Asp) n.6566C>A c.6467C>A (p.Ala2156Asp) c.5372C>A (p.Ala1791Asp) c.1556C>A (p.Ala519Asp) c.1109C>A (p.Ala370Asp) c.446C>A (p.Ala149Asp) c.4961C>A (p.Ala1654Asp) n.6484C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829596C>A | CA359200062 | DNAH5 | n.1289G>T c.6358G>T (p.Ala2120Ser) c.6313G>T (p.Ala2105Ser) n.6565G>T c.6466G>T (p.Ala2156Ser) c.5371G>T (p.Ala1791Ser) c.1555G>T (p.Ala519Ser) c.1108G>T (p.Ala370Ser) c.445G>T (p.Ala149Ser) c.4960G>T (p.Ala1654Ser) n.6483G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13829596C= | CA1528458096 | DNAH5 | n.1289G= c.6358G= (p.Ala2120=) c.6313G= (p.Ala2105=) n.6565G= c.6466G= (p.Ala2156=) c.5371G= (p.Ala1791=) c.1555G= (p.Ala519=) c.1108G= (p.Ala370=) c.445G= (p.Ala149=) c.4960G= (p.Ala1654=) n.6483G= | |
5 | g.13829596C>G | CA359200063 | DNAH5 | n.1289G>C c.6358G>C (p.Ala2120Pro) c.6313G>C (p.Ala2105Pro) n.6565G>C c.6466G>C (p.Ala2156Pro) c.5371G>C (p.Ala1791Pro) c.1555G>C (p.Ala519Pro) c.1108G>C (p.Ala370Pro) c.445G>C (p.Ala149Pro) c.4960G>C (p.Ala1654Pro) n.6483G>C | gnomAD v4 |
5 | g.13829596C>T | CA359200065 | DNAH5 | n.1289G>A c.6358G>A (p.Ala2120Thr) c.6313G>A (p.Ala2105Thr) n.6565G>A c.6466G>A (p.Ala2156Thr) c.5371G>A (p.Ala1791Thr) c.1555G>A (p.Ala519Thr) c.1108G>A (p.Ala370Thr) c.445G>A (p.Ala149Thr) c.4960G>A (p.Ala1654Thr) n.6483G>A | |
5 | g.13829597C>A | CA359200067 | DNAH5 | n.1288G>T c.6357G>T (p.Leu2119Phe) c.6312G>T (p.Leu2104Phe) n.6564G>T c.6465G>T (p.Leu2155Phe) c.5370G>T (p.Leu1790Phe) c.1554G>T (p.Leu518Phe) c.1107G>T (p.Leu369Phe) c.444G>T (p.Leu148Phe) c.4959G>T (p.Leu1653Phe) n.6482G>T | |
5 | g.13829597C>G | CA359200069 | DNAH5 | n.1288G>C c.6357G>C (p.Leu2119Phe) c.6312G>C (p.Leu2104Phe) n.6564G>C c.6465G>C (p.Leu2155Phe) c.5370G>C (p.Leu1790Phe) c.1554G>C (p.Leu518Phe) c.1107G>C (p.Leu369Phe) c.444G>C (p.Leu148Phe) c.4959G>C (p.Leu1653Phe) n.6482G>C | |
5 | g.13829597C>T | CA443251561 | DNAH5 | n.1288G>A c.6357G>A (p.Leu2119=) c.6312G>A (p.Leu2104=) n.6564G>A c.6465G>A (p.Leu2155=) c.5370G>A (p.Leu1790=) c.1554G>A (p.Leu518=) c.1107G>A (p.Leu369=) c.444G>A (p.Leu148=) c.4959G>A (p.Leu1653=) n.6482G>A | ClinVar |
5 | g.13829598A>C | CA359200071 | DNAH5 | n.1287T>G c.6356T>G (p.Leu2119Trp) c.6311T>G (p.Leu2104Trp) n.6563T>G c.6464T>G (p.Leu2155Trp) c.5369T>G (p.Leu1790Trp) c.1553T>G (p.Leu518Trp) c.1106T>G (p.Leu369Trp) c.443T>G (p.Leu148Trp) c.4958T>G (p.Leu1653Trp) n.6481T>G | |
5 | g.13829598A>G | CA359200073 | DNAH5 | n.1287T>C c.6356T>C (p.Leu2119Ser) c.6311T>C (p.Leu2104Ser) n.6563T>C c.6464T>C (p.Leu2155Ser) c.5369T>C (p.Leu1790Ser) c.1553T>C (p.Leu518Ser) c.1106T>C (p.Leu369Ser) c.443T>C (p.Leu148Ser) c.4958T>C (p.Leu1653Ser) n.6481T>C | |
5 | g.13829598A>T | CA359200075 | DNAH5 | n.1287T>A c.6356T>A (p.Leu2119Ter) c.6311T>A (p.Leu2104Ter) n.6563T>A c.6464T>A (p.Leu2155Ter) c.5369T>A (p.Leu1790Ter) c.1553T>A (p.Leu518Ter) c.1106T>A (p.Leu369Ter) c.443T>A (p.Leu148Ter) c.4958T>A (p.Leu1653Ter) n.6481T>A | ClinVar |
5 | g.13829599A= | CA1528458097 | DNAH5 | n.1286T= c.6355T= (p.Leu2119=) c.6310T= (p.Leu2104=) n.6562T= c.6463T= (p.Leu2155=) c.5368T= (p.Leu1790=) c.1552T= (p.Leu518=) c.1105T= (p.Leu369=) c.442T= (p.Leu148=) c.4957T= (p.Leu1653=) n.6480T= | |
5 | g.13829599A>C | CA359200077 | DNAH5 | n.1286T>G c.6355T>G (p.Leu2119Val) c.6310T>G (p.Leu2104Val) n.6562T>G c.6463T>G (p.Leu2155Val) c.5368T>G (p.Leu1790Val) c.1552T>G (p.Leu518Val) c.1105T>G (p.Leu369Val) c.442T>G (p.Leu148Val) c.4957T>G (p.Leu1653Val) n.6480T>G | |
5 | g.13829599A>G | CA443251565 | DNAH5 | n.1286T>C c.6355T>C (p.Leu2119=) c.6310T>C (p.Leu2104=) n.6562T>C c.6463T>C (p.Leu2155=) c.5368T>C (p.Leu1790=) c.1552T>C (p.Leu518=) c.1105T>C (p.Leu369=) c.442T>C (p.Leu148=) c.4957T>C (p.Leu1653=) n.6480T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829599A>T | CA3203427 | DNAH5 | n.1286T>A c.6355T>A (p.Leu2119Met) c.6310T>A (p.Leu2104Met) n.6562T>A c.6463T>A (p.Leu2155Met) c.5368T>A (p.Leu1790Met) c.1552T>A (p.Leu518Met) c.1105T>A (p.Leu369Met) c.442T>A (p.Leu148Met) c.4957T>A (p.Leu1653Met) n.6480T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13829600C>A | CA359200080 | DNAH5 | n.1285G>T c.6354G>T (p.Lys2118Asn) c.6309G>T (p.Lys2103Asn) n.6561G>T c.6462G>T (p.Lys2154Asn) c.5367G>T (p.Lys1789Asn) c.1551G>T (p.Lys517Asn) c.1104G>T (p.Lys368Asn) c.441G>T (p.Lys147Asn) c.4956G>T (p.Lys1652Asn) n.6479G>T | |
5 | g.13829600C>G | CA359200082 | DNAH5 | n.1285G>C c.6354G>C (p.Lys2118Asn) c.6309G>C (p.Lys2103Asn) n.6561G>C c.6462G>C (p.Lys2154Asn) c.5367G>C (p.Lys1789Asn) c.1551G>C (p.Lys517Asn) c.1104G>C (p.Lys368Asn) c.441G>C (p.Lys147Asn) c.4956G>C (p.Lys1652Asn) n.6479G>C | |
5 | g.13829600C>T | CA443251569 | DNAH5 | n.1285G>A c.6354G>A (p.Lys2118=) c.6309G>A (p.Lys2103=) n.6561G>A c.6462G>A (p.Lys2154=) c.5367G>A (p.Lys1789=) c.1551G>A (p.Lys517=) c.1104G>A (p.Lys368=) c.441G>A (p.Lys147=) c.4956G>A (p.Lys1652=) n.6479G>A | |
5 | g.13829601T>A | CA359200084 | DNAH5 | n.1284A>T c.6353A>T (p.Lys2118Met) c.6308A>T (p.Lys2103Met) n.6560A>T c.6461A>T (p.Lys2154Met) c.5366A>T (p.Lys1789Met) c.1550A>T (p.Lys517Met) c.1103A>T (p.Lys368Met) c.440A>T (p.Lys147Met) c.4955A>T (p.Lys1652Met) n.6478A>T | |
5 | g.13829601T>C | CA359200086 | DNAH5 | n.1284A>G c.6353A>G (p.Lys2118Arg) c.6308A>G (p.Lys2103Arg) n.6560A>G c.6461A>G (p.Lys2154Arg) c.5366A>G (p.Lys1789Arg) c.1550A>G (p.Lys517Arg) c.1103A>G (p.Lys368Arg) c.440A>G (p.Lys147Arg) c.4955A>G (p.Lys1652Arg) n.6478A>G | gnomAD v4 |
5 | g.13829601T>G | CA359200088 | DNAH5 | n.1284A>C c.6353A>C (p.Lys2118Thr) c.6308A>C (p.Lys2103Thr) n.6560A>C c.6461A>C (p.Lys2154Thr) c.5366A>C (p.Lys1789Thr) c.1550A>C (p.Lys517Thr) c.1103A>C (p.Lys368Thr) c.440A>C (p.Lys147Thr) c.4955A>C (p.Lys1652Thr) n.6478A>C | gnomAD v4 |
5 | g.13829602T>A | CA113937690 | DNAH5 | n.1283A>T c.6352A>T (p.Lys2118Ter) c.6307A>T (p.Lys2103Ter) n.6559A>T c.6460A>T (p.Lys2154Ter) c.5365A>T (p.Lys1789Ter) c.1549A>T (p.Lys517Ter) c.1102A>T (p.Lys368Ter) c.439A>T (p.Lys147Ter) c.4954A>T (p.Lys1652Ter) n.6477A>T | dbSNP |
5 | g.13829602T>C | CA359200091 | DNAH5 | n.1283A>G c.6352A>G (p.Lys2118Glu) c.6307A>G (p.Lys2103Glu) n.6559A>G c.6460A>G (p.Lys2154Glu) c.5365A>G (p.Lys1789Glu) c.1549A>G (p.Lys517Glu) c.1102A>G (p.Lys368Glu) c.439A>G (p.Lys147Glu) c.4954A>G (p.Lys1652Glu) n.6477A>G | |
5 | g.13829602T>G | CA359200093 | DNAH5 | n.1283A>C c.6352A>C (p.Lys2118Gln) c.6307A>C (p.Lys2103Gln) n.6559A>C c.6460A>C (p.Lys2154Gln) c.5365A>C (p.Lys1789Gln) c.1549A>C (p.Lys517Gln) c.1102A>C (p.Lys368Gln) c.439A>C (p.Lys147Gln) c.4954A>C (p.Lys1652Gln) n.6477A>C | |
5 | g.13829602T= | CA1528458098 | DNAH5 | n.1283A= c.6352A= (p.Lys2118=) c.6307A= (p.Lys2103=) n.6559A= c.6460A= (p.Lys2154=) c.5365A= (p.Lys1789=) c.1549A= (p.Lys517=) c.1102A= (p.Lys368=) c.439A= (p.Lys147=) c.4954A= (p.Lys1652=) n.6477A= | |
5 | g.13829603C>A | CA443251574 | DNAH5 | n.1282G>T c.6351G>T (p.Val2117=) c.6306G>T (p.Val2102=) n.6558G>T c.6459G>T (p.Val2153=) c.5364G>T (p.Val1788=) c.1548G>T (p.Val516=) c.1101G>T (p.Val367=) c.438G>T (p.Val146=) c.4953G>T (p.Val1651=) n.6476G>T | |
5 | g.13829603C>G | CA443251576 | DNAH5 | n.1282G>C c.6351G>C (p.Val2117=) c.6306G>C (p.Val2102=) n.6558G>C c.6459G>C (p.Val2153=) c.5364G>C (p.Val1788=) c.1548G>C (p.Val516=) c.1101G>C (p.Val367=) c.438G>C (p.Val146=) c.4953G>C (p.Val1651=) n.6476G>C | ClinVar |
5 | g.13829603C>T | CA443251575 | DNAH5 | n.1282G>A c.6351G>A (p.Val2117=) c.6306G>A (p.Val2102=) n.6558G>A c.6459G>A (p.Val2153=) c.5364G>A (p.Val1788=) c.1548G>A (p.Val516=) c.1101G>A (p.Val367=) c.438G>A (p.Val146=) c.4953G>A (p.Val1651=) n.6476G>A | COSMIC |
5 | g.13829604A>C | CA359200098 | DNAH5 | n.1281T>G c.6350T>G (p.Val2117Gly) c.6305T>G (p.Val2102Gly) n.6557T>G c.6458T>G (p.Val2153Gly) c.5363T>G (p.Val1788Gly) c.1547T>G (p.Val516Gly) c.1100T>G (p.Val367Gly) c.437T>G (p.Val146Gly) c.4952T>G (p.Val1651Gly) n.6475T>G | |
5 | g.13829604A>G | CA359200096 | DNAH5 | n.1281T>C c.6350T>C (p.Val2117Ala) c.6305T>C (p.Val2102Ala) n.6557T>C c.6458T>C (p.Val2153Ala) c.5363T>C (p.Val1788Ala) c.1547T>C (p.Val516Ala) c.1100T>C (p.Val367Ala) c.437T>C (p.Val146Ala) c.4952T>C (p.Val1651Ala) n.6475T>C | gnomAD v4 |
5 | g.13829604A>T | CA359200097 | DNAH5 | n.1281T>A c.6350T>A (p.Val2117Glu) c.6305T>A (p.Val2102Glu) n.6557T>A c.6458T>A (p.Val2153Glu) c.5363T>A (p.Val1788Glu) c.1547T>A (p.Val516Glu) c.1100T>A (p.Val367Glu) c.437T>A (p.Val146Glu) c.4952T>A (p.Val1651Glu) n.6475T>A | |
5 | g.13829605C>A | CA359200100 | DNAH5 | n.1280G>T c.6349G>T (p.Val2117Leu) c.6304G>T (p.Val2102Leu) n.6556G>T c.6457G>T (p.Val2153Leu) c.5362G>T (p.Val1788Leu) c.1546G>T (p.Val516Leu) c.1099G>T (p.Val367Leu) c.436G>T (p.Val146Leu) c.4951G>T (p.Val1651Leu) n.6474G>T | ClinVar dbSNP |
5 | g.13829605C= | CA1528458099 | DNAH5 | n.1280G= c.6349G= (p.Val2117=) c.6304G= (p.Val2102=) n.6556G= c.6457G= (p.Val2153=) c.5362G= (p.Val1788=) c.1546G= (p.Val516=) c.1099G= (p.Val367=) c.436G= (p.Val146=) c.4951G= (p.Val1651=) n.6474G= | |
5 | g.13829605C>G | CA359200101 | DNAH5 | n.1280G>C c.6349G>C (p.Val2117Leu) c.6304G>C (p.Val2102Leu) n.6556G>C c.6457G>C (p.Val2153Leu) c.5362G>C (p.Val1788Leu) c.1546G>C (p.Val516Leu) c.1099G>C (p.Val367Leu) c.436G>C (p.Val146Leu) c.4951G>C (p.Val1651Leu) n.6474G>C | gnomAD v4 |
5 | g.13829605C>T | CA359200103 | DNAH5 | n.1280G>A c.6349G>A (p.Val2117Met) c.6304G>A (p.Val2102Met) n.6556G>A c.6457G>A (p.Val2153Met) c.5362G>A (p.Val1788Met) c.1546G>A (p.Val516Met) c.1099G>A (p.Val367Met) c.436G>A (p.Val146Met) c.4951G>A (p.Val1651Met) n.6474G>A | |
5 | g.13829607del | CA2765349446 | DNAH5 | n.1280del c.6349del (p.Val2117Ter) c.6304del (p.Val2102Ter) n.6556del c.6457del (p.Val2153Ter) c.5362del (p.Val1788Ter) c.1546del (p.Val516Ter) c.1099del (p.Val367Ter) c.436del (p.Val146Ter) c.4951del (p.Val1651Ter) n.6474del | |
5 | g.13829606C>A | CA359200105 | DNAH5 | n.1279G>T c.6348G>T (p.Arg2116Ser) c.6303G>T (p.Arg2101Ser) n.6555G>T c.6456G>T (p.Arg2152Ser) c.5361G>T (p.Arg1787Ser) c.1545G>T (p.Arg515Ser) c.1098G>T (p.Arg366Ser) c.435G>T (p.Arg145Ser) c.4950G>T (p.Arg1650Ser) n.6473G>T | |
5 | g.13829606C= | CA1528458100 | DNAH5 | n.1279G= c.6348G= (p.Arg2116=) c.6303G= (p.Arg2101=) n.6555G= c.6456G= (p.Arg2152=) c.5361G= (p.Arg1787=) c.1545G= (p.Arg515=) c.1098G= (p.Arg366=) c.435G= (p.Arg145=) c.4950G= (p.Arg1650=) n.6473G= | |
5 | g.13829606C>G | CA359200107 | DNAH5 | n.1279G>C c.6348G>C (p.Arg2116Ser) c.6303G>C (p.Arg2101Ser) n.6555G>C c.6456G>C (p.Arg2152Ser) c.5361G>C (p.Arg1787Ser) c.1545G>C (p.Arg515Ser) c.1098G>C (p.Arg366Ser) c.435G>C (p.Arg145Ser) c.4950G>C (p.Arg1650Ser) n.6473G>C | |
5 | g.13829606C>T | CA443251579 | DNAH5 | n.1279G>A c.6348G>A (p.Arg2116=) c.6303G>A (p.Arg2101=) n.6555G>A c.6456G>A (p.Arg2152=) c.5361G>A (p.Arg1787=) c.1545G>A (p.Arg515=) c.1098G>A (p.Arg366=) c.435G>A (p.Arg145=) c.4950G>A (p.Arg1650=) n.6473G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829607C>A | CA359200108 | DNAH5 | n.1278G>T c.6347G>T (p.Arg2116Met) c.6302G>T (p.Arg2101Met) n.6554G>T c.6455G>T (p.Arg2152Met) c.5360G>T (p.Arg1787Met) c.1544G>T (p.Arg515Met) c.1097G>T (p.Arg366Met) c.434G>T (p.Arg145Met) c.4949G>T (p.Arg1650Met) n.6472G>T | |
5 | g.13829607C= | CA1528458101 | DNAH5 | n.1278G= c.6347G= (p.Arg2116=) c.6302G= (p.Arg2101=) n.6554G= c.6455G= (p.Arg2152=) c.5360G= (p.Arg1787=) c.1544G= (p.Arg515=) c.1097G= (p.Arg366=) c.434G= (p.Arg145=) c.4949G= (p.Arg1650=) n.6472G= | |
5 | g.13829607C>G | CA359200111 | DNAH5 | n.1278G>C c.6347G>C (p.Arg2116Thr) c.6302G>C (p.Arg2101Thr) n.6554G>C c.6455G>C (p.Arg2152Thr) c.5360G>C (p.Arg1787Thr) c.1544G>C (p.Arg515Thr) c.1097G>C (p.Arg366Thr) c.434G>C (p.Arg145Thr) c.4949G>C (p.Arg1650Thr) n.6472G>C | |
5 | g.13829607C>T | CA3203428 | DNAH5 | n.1278G>A c.6347G>A (p.Arg2116Lys) c.6302G>A (p.Arg2101Lys) n.6554G>A c.6455G>A (p.Arg2152Lys) c.5360G>A (p.Arg1787Lys) c.1544G>A (p.Arg515Lys) c.1097G>A (p.Arg366Lys) c.434G>A (p.Arg145Lys) c.4949G>A (p.Arg1650Lys) n.6472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829608T>A | CA359200113 | DNAH5 | n.1277A>T c.6346A>T (p.Arg2116Trp) c.6301A>T (p.Arg2101Trp) n.6553A>T c.6454A>T (p.Arg2152Trp) c.5359A>T (p.Arg1787Trp) c.1543A>T (p.Arg515Trp) c.1096A>T (p.Arg366Trp) c.433A>T (p.Arg145Trp) c.4948A>T (p.Arg1650Trp) n.6471A>T | |
5 | g.13829608T>C | CA359200121 | DNAH5 | n.1277A>G c.6346A>G (p.Arg2116Gly) c.6301A>G (p.Arg2101Gly) n.6553A>G c.6454A>G (p.Arg2152Gly) c.5359A>G (p.Arg1787Gly) c.1543A>G (p.Arg515Gly) c.1096A>G (p.Arg366Gly) c.433A>G (p.Arg145Gly) c.4948A>G (p.Arg1650Gly) n.6471A>G | |
5 | g.13829608T>G | CA3203429 | DNAH5 | n.1277A>C c.6346A>C (p.Arg2116=) c.6301A>C (p.Arg2101=) n.6553A>C c.6454A>C (p.Arg2152=) c.5359A>C (p.Arg1787=) c.1543A>C (p.Arg515=) c.1096A>C (p.Arg366=) c.433A>C (p.Arg145=) c.4948A>C (p.Arg1650=) n.6471A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829608T= | CA1528458102 | DNAH5 | n.1277A= c.6346A= (p.Arg2116=) c.6301A= (p.Arg2101=) n.6553A= c.6454A= (p.Arg2152=) c.5359A= (p.Arg1787=) c.1543A= (p.Arg515=) c.1096A= (p.Arg366=) c.433A= (p.Arg145=) c.4948A= (p.Arg1650=) n.6471A= | |
5 | g.13829609T>A | CA443251585 | DNAH5 | n.1276A>T c.6345A>T (p.Ile2115=) c.6300A>T (p.Ile2100=) n.6552A>T c.6453A>T (p.Ile2151=) c.5358A>T (p.Ile1786=) c.1542A>T (p.Ile514=) c.1095A>T (p.Ile365=) c.432A>T (p.Ile144=) c.4947A>T (p.Ile1649=) n.6470A>T | |
5 | g.13829609T>C | CA359200125 | DNAH5 | n.1276A>G c.6345A>G (p.Ile2115Met) c.6300A>G (p.Ile2100Met) n.6552A>G c.6453A>G (p.Ile2151Met) c.5358A>G (p.Ile1786Met) c.1542A>G (p.Ile514Met) c.1095A>G (p.Ile365Met) c.432A>G (p.Ile144Met) c.4947A>G (p.Ile1649Met) n.6470A>G | |
5 | g.13829609T>G | CA443251586 | DNAH5 | n.1276A>C c.6345A>C (p.Ile2115=) c.6300A>C (p.Ile2100=) n.6552A>C c.6453A>C (p.Ile2151=) c.5358A>C (p.Ile1786=) c.1542A>C (p.Ile514=) c.1095A>C (p.Ile365=) c.432A>C (p.Ile144=) c.4947A>C (p.Ile1649=) n.6470A>C | |
5 | g.13829610A>C | CA359200126 | DNAH5 | n.1275T>G c.6344T>G (p.Ile2115Arg) c.6299T>G (p.Ile2100Arg) n.6551T>G c.6452T>G (p.Ile2151Arg) c.5357T>G (p.Ile1786Arg) c.1541T>G (p.Ile514Arg) c.1094T>G (p.Ile365Arg) c.431T>G (p.Ile144Arg) c.4946T>G (p.Ile1649Arg) n.6469T>G | |
5 | g.13829610A>G | CA359200127 | DNAH5 | n.1275T>C c.6344T>C (p.Ile2115Thr) c.6299T>C (p.Ile2100Thr) n.6551T>C c.6452T>C (p.Ile2151Thr) c.5357T>C (p.Ile1786Thr) c.1541T>C (p.Ile514Thr) c.1094T>C (p.Ile365Thr) c.431T>C (p.Ile144Thr) c.4946T>C (p.Ile1649Thr) n.6469T>C | |
5 | g.13829610A>T | CA359200128 | DNAH5 | n.1275T>A c.6344T>A (p.Ile2115Lys) c.6299T>A (p.Ile2100Lys) n.6551T>A c.6452T>A (p.Ile2151Lys) c.5357T>A (p.Ile1786Lys) c.1541T>A (p.Ile514Lys) c.1094T>A (p.Ile365Lys) c.431T>A (p.Ile144Lys) c.4946T>A (p.Ile1649Lys) n.6469T>A | |
5 | g.13829610_13829611delinsAT | CA1528458103 | DNAH5 | n.1274_1275delinsAT c.6343_6344delinsAT (p.Ile2115=) c.6298_6299delinsAT (p.Ile2100=) n.6550_6551delinsAT c.6451_6452delinsAT (p.Ile2151=) c.5356_5357delinsAT (p.Ile1786=) c.1540_1541delinsAT (p.Ile514=) c.1093_1094delinsAT (p.Ile365=) c.430_431delinsAT (p.Ile144=) c.4945_4946delinsAT (p.Ile1649=) n.6468_6469delinsAT | |
5 | g.13829611del | CA557876803 | DNAH5 | n.1274del c.6343del (p.Ile2115Ter) c.6298del (p.Ile2100Ter) n.6550del c.6451del (p.Ile2151Ter) c.5356del (p.Ile1786Ter) c.1540del (p.Ile514Ter) c.1093del (p.Ile365Ter) c.430del (p.Ile144Ter) c.4945del (p.Ile1649Ter) n.6468del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829611T>A | CA359200129 | DNAH5 | n.1274A>T c.6343A>T (p.Ile2115Leu) c.6298A>T (p.Ile2100Leu) n.6550A>T c.6451A>T (p.Ile2151Leu) c.5356A>T (p.Ile1786Leu) c.1540A>T (p.Ile514Leu) c.1093A>T (p.Ile365Leu) c.430A>T (p.Ile144Leu) c.4945A>T (p.Ile1649Leu) n.6468A>T | |
5 | g.13829611T>C | CA359200130 | DNAH5 | n.1274A>G c.6343A>G (p.Ile2115Val) c.6298A>G (p.Ile2100Val) n.6550A>G c.6451A>G (p.Ile2151Val) c.5356A>G (p.Ile1786Val) c.1540A>G (p.Ile514Val) c.1093A>G (p.Ile365Val) c.430A>G (p.Ile144Val) c.4945A>G (p.Ile1649Val) n.6468A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829611T>G | CA359200132 | DNAH5 | n.1274A>C c.6343A>C (p.Ile2115Leu) c.6298A>C (p.Ile2100Leu) n.6550A>C c.6451A>C (p.Ile2151Leu) c.5356A>C (p.Ile1786Leu) c.1540A>C (p.Ile514Leu) c.1093A>C (p.Ile365Leu) c.430A>C (p.Ile144Leu) c.4945A>C (p.Ile1649Leu) n.6468A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829611T= | CA1528458104 | DNAH5 | n.1274A= c.6343A= (p.Ile2115=) c.6298A= (p.Ile2100=) n.6550A= c.6451A= (p.Ile2151=) c.5356A= (p.Ile1786=) c.1540A= (p.Ile514=) c.1093A= (p.Ile365=) c.430A= (p.Ile144=) c.4945A= (p.Ile1649=) n.6468A= | |
5 | g.13829612G>A | CA443251592 | DNAH5 | n.1273C>T c.6342C>T (p.Ile2114=) c.6297C>T (p.Ile2099=) n.6549C>T c.6450C>T (p.Ile2150=) c.5355C>T (p.Ile1785=) c.1539C>T (p.Ile513=) c.1092C>T (p.Ile364=) c.429C>T (p.Ile143=) c.4944C>T (p.Ile1648=) n.6467C>T | COSMIC |
5 | g.13829612G>C | CA359200134 | DNAH5 | n.1273C>G c.6342C>G (p.Ile2114Met) c.6297C>G (p.Ile2099Met) n.6549C>G c.6450C>G (p.Ile2150Met) c.5355C>G (p.Ile1785Met) c.1539C>G (p.Ile513Met) c.1092C>G (p.Ile364Met) c.429C>G (p.Ile143Met) c.4944C>G (p.Ile1648Met) n.6467C>G | |
5 | g.13829612G>T | CA443251591 | DNAH5 | n.1273C>A c.6342C>A (p.Ile2114=) c.6297C>A (p.Ile2099=) n.6549C>A c.6450C>A (p.Ile2150=) c.5355C>A (p.Ile1785=) c.1539C>A (p.Ile513=) c.1092C>A (p.Ile364=) c.429C>A (p.Ile143=) c.4944C>A (p.Ile1648=) n.6467C>A | |
5 | g.13829613A>C | CA359200136 | DNAH5 | n.1272T>G c.6341T>G (p.Ile2114Ser) c.6296T>G (p.Ile2099Ser) n.6548T>G c.6449T>G (p.Ile2150Ser) c.5354T>G (p.Ile1785Ser) c.1538T>G (p.Ile513Ser) c.1091T>G (p.Ile364Ser) c.428T>G (p.Ile143Ser) c.4943T>G (p.Ile1648Ser) n.6466T>G | |
5 | g.13829613A>G | CA359200139 | DNAH5 | n.1272T>C c.6341T>C (p.Ile2114Thr) c.6296T>C (p.Ile2099Thr) n.6548T>C c.6449T>C (p.Ile2150Thr) c.5354T>C (p.Ile1785Thr) c.1538T>C (p.Ile513Thr) c.1091T>C (p.Ile364Thr) c.428T>C (p.Ile143Thr) c.4943T>C (p.Ile1648Thr) n.6466T>C | |
5 | g.13829613A>T | CA359200137 | DNAH5 | n.1272T>A c.6341T>A (p.Ile2114Asn) c.6296T>A (p.Ile2099Asn) n.6548T>A c.6449T>A (p.Ile2150Asn) c.5354T>A (p.Ile1785Asn) c.1538T>A (p.Ile513Asn) c.1091T>A (p.Ile364Asn) c.428T>A (p.Ile143Asn) c.4943T>A (p.Ile1648Asn) n.6466T>A | |
5 | g.13829614T>A | CA359200141 | DNAH5 | n.1271A>T c.6340A>T (p.Ile2114Phe) c.6295A>T (p.Ile2099Phe) n.6547A>T c.6448A>T (p.Ile2150Phe) c.5353A>T (p.Ile1785Phe) c.1537A>T (p.Ile513Phe) c.1090A>T (p.Ile364Phe) c.427A>T (p.Ile143Phe) c.4942A>T (p.Ile1648Phe) n.6465A>T | gnomAD v4 |
5 | g.13829614T>C | CA359200145 | DNAH5 | n.1271A>G c.6340A>G (p.Ile2114Val) c.6295A>G (p.Ile2099Val) n.6547A>G c.6448A>G (p.Ile2150Val) c.5353A>G (p.Ile1785Val) c.1537A>G (p.Ile513Val) c.1090A>G (p.Ile364Val) c.427A>G (p.Ile143Val) c.4942A>G (p.Ile1648Val) n.6465A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829614T>G | CA359200143 | DNAH5 | n.1271A>C c.6340A>C (p.Ile2114Leu) c.6295A>C (p.Ile2099Leu) n.6547A>C c.6448A>C (p.Ile2150Leu) c.5353A>C (p.Ile1785Leu) c.1537A>C (p.Ile513Leu) c.1090A>C (p.Ile364Leu) c.427A>C (p.Ile143Leu) c.4942A>C (p.Ile1648Leu) n.6465A>C | |
5 | g.13829614T= | CA1528458105 | DNAH5 | n.1271A= c.6340A= (p.Ile2114=) c.6295A= (p.Ile2099=) n.6547A= c.6448A= (p.Ile2150=) c.5353A= (p.Ile1785=) c.1537A= (p.Ile513=) c.1090A= (p.Ile364=) c.427A= (p.Ile143=) c.4942A= (p.Ile1648=) n.6465A= | |
5 | g.13829615A>C | CA359200147 | DNAH5 | n.1270T>G c.6339T>G (p.Ile2113Met) c.6294T>G (p.Ile2098Met) n.6546T>G c.6447T>G (p.Ile2149Met) c.5352T>G (p.Ile1784Met) c.1536T>G (p.Ile512Met) c.1089T>G (p.Ile363Met) c.426T>G (p.Ile142Met) c.4941T>G (p.Ile1647Met) n.6464T>G | |
5 | g.13829615A>G | CA443251596 | DNAH5 | n.1270T>C c.6339T>C (p.Ile2113=) c.6294T>C (p.Ile2098=) n.6546T>C c.6447T>C (p.Ile2149=) c.5352T>C (p.Ile1784=) c.1536T>C (p.Ile512=) c.1089T>C (p.Ile363=) c.426T>C (p.Ile142=) c.4941T>C (p.Ile1647=) n.6464T>C | |
5 | g.13829615A>T | CA443251597 | DNAH5 | n.1270T>A c.6339T>A (p.Ile2113=) c.6294T>A (p.Ile2098=) n.6546T>A c.6447T>A (p.Ile2149=) c.5352T>A (p.Ile1784=) c.1536T>A (p.Ile512=) c.1089T>A (p.Ile363=) c.426T>A (p.Ile142=) c.4941T>A (p.Ile1647=) n.6464T>A | |
5 | g.13829616A>C | CA359200154 | DNAH5 | n.1269T>G c.6338T>G (p.Ile2113Ser) c.6293T>G (p.Ile2098Ser) n.6545T>G c.6446T>G (p.Ile2149Ser) c.5351T>G (p.Ile1784Ser) c.1535T>G (p.Ile512Ser) c.1088T>G (p.Ile363Ser) c.425T>G (p.Ile142Ser) c.4940T>G (p.Ile1647Ser) n.6463T>G | |
5 | g.13829616A>G | CA359200150 | DNAH5 | n.1269T>C c.6338T>C (p.Ile2113Thr) c.6293T>C (p.Ile2098Thr) n.6545T>C c.6446T>C (p.Ile2149Thr) c.5351T>C (p.Ile1784Thr) c.1535T>C (p.Ile512Thr) c.1088T>C (p.Ile363Thr) c.425T>C (p.Ile142Thr) c.4940T>C (p.Ile1647Thr) n.6463T>C | |
5 | g.13829616A>T | CA359200152 | DNAH5 | n.1269T>A c.6338T>A (p.Ile2113Asn) c.6293T>A (p.Ile2098Asn) n.6545T>A c.6446T>A (p.Ile2149Asn) c.5351T>A (p.Ile1784Asn) c.1535T>A (p.Ile512Asn) c.1088T>A (p.Ile363Asn) c.425T>A (p.Ile142Asn) c.4940T>A (p.Ile1647Asn) n.6463T>A | |
5 | g.13829617T>A | CA359200156 | DNAH5 | n.1268A>T c.6337A>T (p.Ile2113Phe) c.6292A>T (p.Ile2098Phe) n.6544A>T c.6445A>T (p.Ile2149Phe) c.5350A>T (p.Ile1784Phe) c.1534A>T (p.Ile512Phe) c.1087A>T (p.Ile363Phe) c.424A>T (p.Ile142Phe) c.4939A>T (p.Ile1647Phe) n.6462A>T | |
5 | g.13829617T>C | CA359200158 | DNAH5 | n.1268A>G c.6337A>G (p.Ile2113Val) c.6292A>G (p.Ile2098Val) n.6544A>G c.6445A>G (p.Ile2149Val) c.5350A>G (p.Ile1784Val) c.1534A>G (p.Ile512Val) c.1087A>G (p.Ile363Val) c.424A>G (p.Ile142Val) c.4939A>G (p.Ile1647Val) n.6462A>G | |
5 | g.13829617T>G | CA359200160 | DNAH5 | n.1268A>C c.6337A>C (p.Ile2113Leu) c.6292A>C (p.Ile2098Leu) n.6544A>C c.6445A>C (p.Ile2149Leu) c.5350A>C (p.Ile1784Leu) c.1534A>C (p.Ile512Leu) c.1087A>C (p.Ile363Leu) c.424A>C (p.Ile142Leu) c.4939A>C (p.Ile1647Leu) n.6462A>C | |
5 | g.13829618C>A | CA359200162 | DNAH5 | n.1267G>T c.6336G>T (p.Gln2112His) c.6291G>T (p.Gln2097His) n.6543G>T c.6444G>T (p.Gln2148His) c.5349G>T (p.Gln1783His) c.1533G>T (p.Gln511His) c.1086G>T (p.Gln362His) c.423G>T (p.Gln141His) c.4938G>T (p.Gln1646His) n.6461G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.13829618C= | CA1528458106 | DNAH5 | n.1267G= c.6336G= (p.Gln2112=) c.6291G= (p.Gln2097=) n.6543G= c.6444G= (p.Gln2148=) c.5349G= (p.Gln1783=) c.1533G= (p.Gln511=) c.1086G= (p.Gln362=) c.423G= (p.Gln141=) c.4938G= (p.Gln1646=) n.6461G= | |
5 | g.13829618C>G | CA359200163 | DNAH5 | n.1267G>C c.6336G>C (p.Gln2112His) c.6291G>C (p.Gln2097His) n.6543G>C c.6444G>C (p.Gln2148His) c.5349G>C (p.Gln1783His) c.1533G>C (p.Gln511His) c.1086G>C (p.Gln362His) c.423G>C (p.Gln141His) c.4938G>C (p.Gln1646His) n.6461G>C | |
5 | g.13829618C>T | CA443251601 | DNAH5 | n.1267G>A c.6336G>A (p.Gln2112=) c.6291G>A (p.Gln2097=) n.6543G>A c.6444G>A (p.Gln2148=) c.5349G>A (p.Gln1783=) c.1533G>A (p.Gln511=) c.1086G>A (p.Gln362=) c.423G>A (p.Gln141=) c.4938G>A (p.Gln1646=) n.6461G>A | |
5 | g.13829618_13829619insA | CA350172 | DNAH5 | n.1266_1267insT c.6335_6336insT (p.Gln2112HisfsTer10) c.6290_6291insT (p.Gln2097HisfsTer10) n.6542_6543insT c.6443_6444insT (p.Gln2148HisfsTer10) c.5348_5349insT (p.Gln1783HisfsTer10) c.1532_1533insT (p.Gln511HisfsTer10) c.1085_1086insT (p.Gln362HisfsTer10) c.422_423insT (p.Gln141HisfsTer10) c.4937_4938insT (p.Gln1646HisfsTer10) n.6460_6461insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13829619T>A | CA359200166 | DNAH5 | n.1266A>T c.6335A>T (p.Gln2112Leu) c.6290A>T (p.Gln2097Leu) n.6542A>T c.6443A>T (p.Gln2148Leu) c.5348A>T (p.Gln1783Leu) c.1532A>T (p.Gln511Leu) c.1085A>T (p.Gln362Leu) c.422A>T (p.Gln141Leu) c.4937A>T (p.Gln1646Leu) n.6460A>T | |
5 | g.13829619T>C | CA359200167 | DNAH5 | n.1266A>G c.6335A>G (p.Gln2112Arg) c.6290A>G (p.Gln2097Arg) n.6542A>G c.6443A>G (p.Gln2148Arg) c.5348A>G (p.Gln1783Arg) c.1532A>G (p.Gln511Arg) c.1085A>G (p.Gln362Arg) c.422A>G (p.Gln141Arg) c.4937A>G (p.Gln1646Arg) n.6460A>G | |
5 | g.13829619T>G | CA359200169 | DNAH5 | n.1266A>C c.6335A>C (p.Gln2112Pro) c.6290A>C (p.Gln2097Pro) n.6542A>C c.6443A>C (p.Gln2148Pro) c.5348A>C (p.Gln1783Pro) c.1532A>C (p.Gln511Pro) c.1085A>C (p.Gln362Pro) c.422A>C (p.Gln141Pro) c.4937A>C (p.Gln1646Pro) n.6460A>C | |
5 | g.13829620G>A | CA359200176 | DNAH5 | n.1265C>T c.6334C>T (p.Gln2112Ter) c.6289C>T (p.Gln2097Ter) n.6541C>T c.6442C>T (p.Gln2148Ter) c.5347C>T (p.Gln1783Ter) c.1531C>T (p.Gln511Ter) c.1084C>T (p.Gln362Ter) c.421C>T (p.Gln141Ter) c.4936C>T (p.Gln1646Ter) n.6459C>T | |
5 | g.13829620G>C | CA359200173 | DNAH5 | n.1265C>G c.6334C>G (p.Gln2112Glu) c.6289C>G (p.Gln2097Glu) n.6541C>G c.6442C>G (p.Gln2148Glu) c.5347C>G (p.Gln1783Glu) c.1531C>G (p.Gln511Glu) c.1084C>G (p.Gln362Glu) c.421C>G (p.Gln141Glu) c.4936C>G (p.Gln1646Glu) n.6459C>G | |
5 | g.13829620G>T | CA359200172 | DNAH5 | n.1265C>A c.6334C>A (p.Gln2112Lys) c.6289C>A (p.Gln2097Lys) n.6541C>A c.6442C>A (p.Gln2148Lys) c.5347C>A (p.Gln1783Lys) c.1531C>A (p.Gln511Lys) c.1084C>A (p.Gln362Lys) c.421C>A (p.Gln141Lys) c.4936C>A (p.Gln1646Lys) n.6459C>A | gnomAD v4 |
5 | g.13829621A>C | CA443251603 | DNAH5 | n.1264T>G c.6333T>G (p.Arg2111=) c.6288T>G (p.Arg2096=) n.6540T>G c.6441T>G (p.Arg2147=) c.5346T>G (p.Arg1782=) c.1530T>G (p.Arg510=) c.1083T>G (p.Arg361=) c.420T>G (p.Arg140=) c.4935T>G (p.Arg1645=) n.6458T>G | |
5 | g.13829621A>G | CA443251604 | DNAH5 | n.1264T>C c.6333T>C (p.Arg2111=) c.6288T>C (p.Arg2096=) n.6540T>C c.6441T>C (p.Arg2147=) c.5346T>C (p.Arg1782=) c.1530T>C (p.Arg510=) c.1083T>C (p.Arg361=) c.420T>C (p.Arg140=) c.4935T>C (p.Arg1645=) n.6458T>C | |
5 | g.13829621A>T | CA443251605 | DNAH5 | n.1264T>A c.6333T>A (p.Arg2111=) c.6288T>A (p.Arg2096=) n.6540T>A c.6441T>A (p.Arg2147=) c.5346T>A (p.Arg1782=) c.1530T>A (p.Arg510=) c.1083T>A (p.Arg361=) c.420T>A (p.Arg140=) c.4935T>A (p.Arg1645=) n.6458T>A | |
5 | g.13829622C>A | CA359200178 | DNAH5 | n.1263G>T c.6332G>T (p.Arg2111Leu) c.6287G>T (p.Arg2096Leu) n.6539G>T c.6440G>T (p.Arg2147Leu) c.5345G>T (p.Arg1782Leu) c.1529G>T (p.Arg510Leu) c.1082G>T (p.Arg361Leu) c.419G>T (p.Arg140Leu) c.4934G>T (p.Arg1645Leu) n.6457G>T | |
5 | g.13829622C= | CA1528458107 | DNAH5 | n.1263G= c.6332G= (p.Arg2111=) c.6287G= (p.Arg2096=) n.6539G= c.6440G= (p.Arg2147=) c.5345G= (p.Arg1782=) c.1529G= (p.Arg510=) c.1082G= (p.Arg361=) c.419G= (p.Arg140=) c.4934G= (p.Arg1645=) n.6457G= | |
5 | g.13829622C>G | CA359200180 | DNAH5 | n.1263G>C c.6332G>C (p.Arg2111Pro) c.6287G>C (p.Arg2096Pro) n.6539G>C c.6440G>C (p.Arg2147Pro) c.5345G>C (p.Arg1782Pro) c.1529G>C (p.Arg510Pro) c.1082G>C (p.Arg361Pro) c.419G>C (p.Arg140Pro) c.4934G>C (p.Arg1645Pro) n.6457G>C | |
5 | g.13829622C>T | CA113937714 | DNAH5 | n.1263G>A c.6332G>A (p.Arg2111His) c.6287G>A (p.Arg2096His) n.6539G>A c.6440G>A (p.Arg2147His) c.5345G>A (p.Arg1782His) c.1529G>A (p.Arg510His) c.1082G>A (p.Arg361His) c.419G>A (p.Arg140His) c.4934G>A (p.Arg1645His) n.6457G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13829623G>A | CA113937720 | DNAH5 | n.1262C>T c.6331C>T (p.Arg2111Cys) c.6286C>T (p.Arg2096Cys) n.6538C>T c.6439C>T (p.Arg2147Cys) c.5344C>T (p.Arg1782Cys) c.1528C>T (p.Arg510Cys) c.1081C>T (p.Arg361Cys) c.418C>T (p.Arg140Cys) c.4933C>T (p.Arg1645Cys) n.6456C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.13829623G>C | CA359200184 | DNAH5 | n.1262C>G c.6331C>G (p.Arg2111Gly) c.6286C>G (p.Arg2096Gly) n.6538C>G c.6439C>G (p.Arg2147Gly) c.5344C>G (p.Arg1782Gly) c.1528C>G (p.Arg510Gly) c.1081C>G (p.Arg361Gly) c.418C>G (p.Arg140Gly) c.4933C>G (p.Arg1645Gly) n.6456C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13829623G= | CA1528458108 | DNAH5 | n.1262C= c.6331C= (p.Arg2111=) c.6286C= (p.Arg2096=) n.6538C= c.6439C= (p.Arg2147=) c.5344C= (p.Arg1782=) c.1528C= (p.Arg510=) c.1081C= (p.Arg361=) c.418C= (p.Arg140=) c.4933C= (p.Arg1645=) n.6456C= | |
5 | g.13829623G>T | CA359200185 | DNAH5 | n.1262C>A c.6331C>A (p.Arg2111Ser) c.6286C>A (p.Arg2096Ser) n.6538C>A c.6439C>A (p.Arg2147Ser) c.5344C>A (p.Arg1782Ser) c.1528C>A (p.Arg510Ser) c.1081C>A (p.Arg361Ser) c.418C>A (p.Arg140Ser) c.4933C>A (p.Arg1645Ser) n.6456C>A | dbSNP |
5 | g.13829624G>A | CA443251610 | DNAH5 | n.1261C>T c.6330C>T (p.Asp2110=) c.6285C>T (p.Asp2095=) n.6537C>T c.6438C>T (p.Asp2146=) c.5343C>T (p.Asp1781=) c.1527C>T (p.Asp509=) c.1080C>T (p.Asp360=) c.417C>T (p.Asp139=) c.4932C>T (p.Asp1644=) n.6455C>T | |
5 | g.13829624G>C | CA359200187 | DNAH5 | n.1261C>G c.6330C>G (p.Asp2110Glu) c.6285C>G (p.Asp2095Glu) n.6537C>G c.6438C>G (p.Asp2146Glu) c.5343C>G (p.Asp1781Glu) c.1527C>G (p.Asp509Glu) c.1080C>G (p.Asp360Glu) c.417C>G (p.Asp139Glu) c.4932C>G (p.Asp1644Glu) n.6455C>G | |
5 | g.13829624G>T | CA359200189 | DNAH5 | n.1261C>A c.6330C>A (p.Asp2110Glu) c.6285C>A (p.Asp2095Glu) n.6537C>A c.6438C>A (p.Asp2146Glu) c.5343C>A (p.Asp1781Glu) c.1527C>A (p.Asp509Glu) c.1080C>A (p.Asp360Glu) c.417C>A (p.Asp139Glu) c.4932C>A (p.Asp1644Glu) n.6455C>A | |
5 | g.13829625T>A | CA359200190 | DNAH5 | n.1260A>T c.6329A>T (p.Asp2110Val) c.6284A>T (p.Asp2095Val) n.6536A>T c.6437A>T (p.Asp2146Val) c.5342A>T (p.Asp1781Val) c.1526A>T (p.Asp509Val) c.1079A>T (p.Asp360Val) c.416A>T (p.Asp139Val) c.4931A>T (p.Asp1644Val) n.6454A>T | |
5 | g.13829625T>C | CA359200191 | DNAH5 | n.1260A>G c.6329A>G (p.Asp2110Gly) c.6284A>G (p.Asp2095Gly) n.6536A>G c.6437A>G (p.Asp2146Gly) c.5342A>G (p.Asp1781Gly) c.1526A>G (p.Asp509Gly) c.1079A>G (p.Asp360Gly) c.416A>G (p.Asp139Gly) c.4931A>G (p.Asp1644Gly) n.6454A>G | dbSNP |
5 | g.13829625T>G | CA359200193 | DNAH5 | n.1260A>C c.6329A>C (p.Asp2110Ala) c.6284A>C (p.Asp2095Ala) n.6536A>C c.6437A>C (p.Asp2146Ala) c.5342A>C (p.Asp1781Ala) c.1526A>C (p.Asp509Ala) c.1079A>C (p.Asp360Ala) c.416A>C (p.Asp139Ala) c.4931A>C (p.Asp1644Ala) n.6454A>C | |
5 | g.13829625T= | CA1528458109 | DNAH5 | n.1260A= c.6329A= (p.Asp2110=) c.6284A= (p.Asp2095=) n.6536A= c.6437A= (p.Asp2146=) c.5342A= (p.Asp1781=) c.1526A= (p.Asp509=) c.1079A= (p.Asp360=) c.416A= (p.Asp139=) c.4931A= (p.Asp1644=) n.6454A= | |
5 | g.13829626C>A | CA359200198 | DNAH5 | n.1259G>T c.6328G>T (p.Asp2110Tyr) c.6283G>T (p.Asp2095Tyr) n.6535G>T c.6436G>T (p.Asp2146Tyr) c.5341G>T (p.Asp1781Tyr) c.1525G>T (p.Asp509Tyr) c.1078G>T (p.Asp360Tyr) c.415G>T (p.Asp139Tyr) c.4930G>T (p.Asp1644Tyr) n.6453G>T | gnomAD v4 |
5 | g.13829626C>G | CA359200196 | DNAH5 | n.1259G>C c.6328G>C (p.Asp2110His) c.6283G>C (p.Asp2095His) n.6535G>C c.6436G>C (p.Asp2146His) c.5341G>C (p.Asp1781His) c.1525G>C (p.Asp509His) c.1078G>C (p.Asp360His) c.415G>C (p.Asp139His) c.4930G>C (p.Asp1644His) n.6453G>C | |
5 | g.13829626C>T | CA359200195 | DNAH5 | n.1259G>A c.6328G>A (p.Asp2110Asn) c.6283G>A (p.Asp2095Asn) n.6535G>A c.6436G>A (p.Asp2146Asn) c.5341G>A (p.Asp1781Asn) c.1525G>A (p.Asp509Asn) c.1078G>A (p.Asp360Asn) c.415G>A (p.Asp139Asn) c.4930G>A (p.Asp1644Asn) n.6453G>A | |
5 | g.13829627A>C | CA443251613 | DNAH5 | n.1258T>G c.6327T>G (p.Pro2109=) c.6282T>G (p.Pro2094=) n.6534T>G c.6435T>G (p.Pro2145=) c.5340T>G (p.Pro1780=) c.1524T>G (p.Pro508=) c.1077T>G (p.Pro359=) c.414T>G (p.Pro138=) c.4929T>G (p.Pro1643=) n.6452T>G | |
5 | g.13829627A>G | CA443251614 | DNAH5 | n.1258T>C c.6327T>C (p.Pro2109=) c.6282T>C (p.Pro2094=) n.6534T>C c.6435T>C (p.Pro2145=) c.5340T>C (p.Pro1780=) c.1524T>C (p.Pro508=) c.1077T>C (p.Pro359=) c.414T>C (p.Pro138=) c.4929T>C (p.Pro1643=) n.6452T>C | |
5 | g.13829627A>T | CA443251616 | DNAH5 | n.1258T>A c.6327T>A (p.Pro2109=) c.6282T>A (p.Pro2094=) n.6534T>A c.6435T>A (p.Pro2145=) c.5340T>A (p.Pro1780=) c.1524T>A (p.Pro508=) c.1077T>A (p.Pro359=) c.414T>A (p.Pro138=) c.4929T>A (p.Pro1643=) n.6452T>A | |
5 | g.13829628G>A | CA359200200 | DNAH5 | n.1257C>T c.6326C>T (p.Pro2109Leu) c.6281C>T (p.Pro2094Leu) n.6533C>T c.6434C>T (p.Pro2145Leu) c.5339C>T (p.Pro1780Leu) c.1523C>T (p.Pro508Leu) c.1076C>T (p.Pro359Leu) c.413C>T (p.Pro138Leu) c.4928C>T (p.Pro1643Leu) n.6451C>T | |
5 | g.13829628G>C | CA359200202 | DNAH5 | n.1257C>G c.6326C>G (p.Pro2109Arg) c.6281C>G (p.Pro2094Arg) n.6533C>G c.6434C>G (p.Pro2145Arg) c.5339C>G (p.Pro1780Arg) c.1523C>G (p.Pro508Arg) c.1076C>G (p.Pro359Arg) c.413C>G (p.Pro138Arg) c.4928C>G (p.Pro1643Arg) n.6451C>G | |
5 | g.13829628G>T | CA359200204 | DNAH5 | n.1257C>A c.6326C>A (p.Pro2109His) c.6281C>A (p.Pro2094His) n.6533C>A c.6434C>A (p.Pro2145His) c.5339C>A (p.Pro1780His) c.1523C>A (p.Pro508His) c.1076C>A (p.Pro359His) c.413C>A (p.Pro138His) c.4928C>A (p.Pro1643His) n.6451C>A |