Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13829517_13829529delinsGAAAGCTGCTCCTCA1528458053DNAH5n.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
5g.13829518_13829529delCA1528458054DNAH5n.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
5g.13829528_13829530dupCA1528458059DNAH5n.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
5g.13829527C>ACA16618118DNAH5n.1358G>T
c.6427G>T (p.Glu2143Ter)
c.6382G>T (p.Glu2128Ter)
n.6634G>T
c.6535G>T (p.Glu2179Ter)
c.5440G>T (p.Glu1814Ter)
c.1624G>T (p.Glu542Ter)
c.1177G>T (p.Glu393Ter)
c.514G>T (p.Glu172Ter)
c.5029G>T (p.Glu1677Ter)
n.6552G>T
 ClinVar dbSNP gnomAD v4
5g.13829527C=CA1528458061DNAH5n.1358G=
c.6427G= (p.Glu2143=)
c.6382G= (p.Glu2128=)
n.6634G=
c.6535G= (p.Glu2179=)
c.5440G= (p.Glu1814=)
c.1624G= (p.Glu542=)
c.1177G= (p.Glu393=)
c.514G= (p.Glu172=)
c.5029G= (p.Glu1677=)
n.6552G=
5g.13829527C>GCA359199403DNAH5n.1358G>C
c.6427G>C (p.Glu2143Gln)
c.6382G>C (p.Glu2128Gln)
n.6634G>C
c.6535G>C (p.Glu2179Gln)
c.5440G>C (p.Glu1814Gln)
c.1624G>C (p.Glu542Gln)
c.1177G>C (p.Glu393Gln)
c.514G>C (p.Glu172Gln)
c.5029G>C (p.Glu1677Gln)
n.6552G>C
5g.13829527C>TCA359199405DNAH5n.1358G>A
c.6427G>A (p.Glu2143Lys)
c.6382G>A (p.Glu2128Lys)
n.6634G>A
c.6535G>A (p.Glu2179Lys)
c.5440G>A (p.Glu1814Lys)
c.1624G>A (p.Glu542Lys)
c.1177G>A (p.Glu393Lys)
c.514G>A (p.Glu172Lys)
c.5029G>A (p.Glu1677Lys)
n.6552G>A
5g.13829528C>ACA359199409DNAH5n.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
5g.13829528C=CA1528458062DNAH5n.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=
5g.13829528C>GCA359199410DNAH5n.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
5g.13829528C>TCA443251341DNAH5n.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
5g.13829529T>ACA359199417DNAH5n.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
5g.13829529T>CCA359199412DNAH5n.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
5g.13829529T>GCA359199415DNAH5n.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
5g.13829529_13829531delinsTCACA1528458063DNAH5n.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
5g.13829530C>ACA359199426DNAH5n.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
5g.13829530C>GCA359199427DNAH5n.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
5g.13829530C>TCA359199431DNAH5n.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
5g.13829534_13829535delCA915943293DNAH5n.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
5g.13829531A>CCA359199437DNAH5n.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
5g.13829531A>GCA443251346DNAH5n.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
5g.13829531A>TCA359199442DNAH5n.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
5g.13829532C>ACA3203411DNAH5n.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
5g.13829532C=CA1528458064DNAH5n.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=
5g.13829532C>GCA359199447DNAH5n.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
5g.13829532C>TCA113937609DNAH5n.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
5g.13829533A>CCA359199476DNAH5n.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
5g.13829533A>GCA359199486DNAH5n.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
5g.13829533A>TCA359199487DNAH5n.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
5g.13829534C>ACA443251350DNAH5n.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
5g.13829534C>GCA443251351DNAH5n.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
5g.13829534C>TCA443251352DNAH5n.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
5g.13829535A=CA1528458065DNAH5n.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=
5g.13829535A>CCA359199488DNAH5n.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
5g.13829535A>GCA359199494DNAH5n.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
5g.13829535A>TCA359199489DNAH5n.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
5g.13829536G>ACA443251354DNAH5n.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
5g.13829536G>CCA359199500DNAH5n.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
5g.13829536G>TCA359199502DNAH5n.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
5g.13829537T>ACA359199507DNAH5n.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
5g.13829537T>CCA443251357DNAH5n.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
5g.13829537T>GCA359199511DNAH5n.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
5g.13829538T>ACA359199517DNAH5n.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
5g.13829538T>CCA3203412DNAH5n.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
5g.13829538T>GCA359199522DNAH5n.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
5g.13829538T=CA1528458066DNAH5n.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=
5g.13829539T>ACA359199542DNAH5n.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
5g.13829539T>CCA359199530DNAH5n.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
5g.13829539T>GCA359199536DNAH5n.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
5g.13829539T=CA1528458067DNAH5n.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=
5g.13829540G>ACA443251359DNAH5n.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
5g.13829540G>CCA359199550DNAH5n.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
5g.13829540G>TCA359199552DNAH5n.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
5g.13829541T>ACA359199557DNAH5n.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
5g.13829541T>CCA3203413DNAH5n.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
5g.13829541T>GCA359199574DNAH5n.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
5g.13829541T=CA1528458068DNAH5n.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=
5g.13829542A>CCA359199577DNAH5n.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
5g.13829542A>GCA359199582DNAH5n.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
5g.13829542A>TCA359199581DNAH5n.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
5g.13829543G>ACA113937630DNAH5n.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
5g.13829543G>CCA3203414DNAH5n.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
5g.13829543G=CA1528458069DNAH5n.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=
5g.13829543G>TCA443251360DNAH5n.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
5g.13829544A=CA1528458070DNAH5n.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=
5g.13829544A>CCA359199588DNAH5n.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
5g.13829544A>GCA359199591DNAH5n.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
5g.13829544A>TCA359199594DNAH5n.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
5g.13829545G>ACA359199600DNAH5n.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
5g.13829545G>CCA359199607DNAH5n.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
5g.13829545G=CA1528458071DNAH5n.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=
5g.13829545G>TCA3203415DNAH5n.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
5g.13829546C>ACA443251364DNAH5n.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
5g.13829546C=CA1528458072DNAH5n.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=
5g.13829546C>GCA443251366DNAH5n.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
5g.13829546C>TCA3203416DNAH5n.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
5g.13829547G>ACA3203417DNAH5n.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
5g.13829547G>CCA359199616DNAH5n.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
5g.13829547G=CA1528458073DNAH5n.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=
5g.13829547G>TCA359199619DNAH5n.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
5g.13829548T>ACA359199622DNAH5n.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
5g.13829548T>CCA359199628DNAH5n.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
5g.13829548T>GCA359199625DNAH5n.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
5g.13829549G>ACA443251368DNAH5n.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
5g.13829549G>CCA359199631DNAH5n.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
5g.13829549G=CA1528458074DNAH5n.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=
5g.13829549G>TCA359199633DNAH5n.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
5g.13829550A=CA1528458075DNAH5n.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=
5g.13829550A>CCA359199636DNAH5n.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
5g.13829550A>GCA359199638DNAH5n.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
5g.13829550A>TCA359199641DNAH5n.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
5g.13829554dupCA917418402DNAH5n.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
5g.13829551A>CCA359199644DNAH5n.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
5g.13829551A>GCA359199646DNAH5n.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
5g.13829551A>TCA359199648DNAH5n.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
5g.13829552A=CA1528458076DNAH5n.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=
5g.13829552A>CCA359199925DNAH5n.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
5g.13829552A>GCA443251472DNAH5n.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
5g.13829552A>TCA359199926DNAH5n.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
5g.13829553A>CCA359199927DNAH5n.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
5g.13829553A>GCA359199928DNAH5n.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
5g.13829553A>TCA359199929DNAH5n.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
5g.13829554A>CCA359199930DNAH5n.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
5g.13829554A>GCA359199932DNAH5n.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
5g.13829554A>TCA359199931DNAH5n.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
5g.13829555C>ACA359199933DNAH5n.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
5g.13829555C>GCA359199934DNAH5n.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
5g.13829555C>TCA443251475DNAH5n.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
5g.13829556T>ACA359199935DNAH5n.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
5g.13829556T>CCA359199936DNAH5n.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
5g.13829556T>GCA359199937DNAH5n.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
5g.13829557T>ACA359199938DNAH5n.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
5g.13829557T>CCA359199939DNAH5n.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
5g.13829557T>GCA359199940DNAH5n.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
5g.13829558C>ACA359199941DNAH5n.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
5g.13829558C>GCA359199942DNAH5n.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
5g.13829558C>TCA443251484DNAH5n.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
5g.13829559C>ACA359199945DNAH5n.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
5g.13829559C>GCA359199944DNAH5n.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
5g.13829559C>TCA359199943DNAH5n.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
5g.13829560T>ACA359199946DNAH5n.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
5g.13829560T>CCA3203418DNAH5n.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
5g.13829560T>GCA443251489DNAH5n.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
5g.13829560T=CA1528458077DNAH5n.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=
5g.13829561G>ACA443251490DNAH5n.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
5g.13829561G>CCA443251491DNAH5n.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
5g.13829561G>TCA443251492DNAH5n.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
5g.13829562G>ACA113937640DNAH5n.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
5g.13829562G>CCA3203419DNAH5n.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
5g.13829562G=CA1528458078DNAH5n.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=
5g.13829562G>TCA359199947DNAH5n.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
5g.13829563C>ACA359199948DNAH5n.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
5g.13829563C=CA1528458079DNAH5n.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=
5g.13829563C>GCA359199949DNAH5n.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
5g.13829563C>TCA359199950DNAH5n.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
5g.13829564C>ACA359199951DNAH5n.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
5g.13829564C>GCA359199952DNAH5n.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
5g.13829564C>TCA443251497DNAH5n.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
5g.13829565A>CCA359199953DNAH5n.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
5g.13829565A>GCA359199954DNAH5n.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
5g.13829565A>TCA359199955DNAH5n.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
5g.13829566A>CCA359199956DNAH5n.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
5g.13829566A>GCA443251502DNAH5n.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
5g.13829566A>TCA359199957DNAH5n.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
5g.13829567A>CCA443251508DNAH5n.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
5g.13829567A>GCA443251507DNAH5n.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
5g.13829567A>TCA443251505DNAH5n.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
5g.13829568A>CCA359199960DNAH5n.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
5g.13829568A>GCA359199958DNAH5n.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
5g.13829568A>TCA359199959DNAH5n.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
5g.13829569C>ACA359199961DNAH5n.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
5g.13829569C=CA1528458080DNAH5n.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=
5g.13829569C>GCA3203420DNAH5n.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
5g.13829569C>TCA359199962DNAH5n.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
5g.13829570A>CCA443251512DNAH5n.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
5g.13829570A>GCA443251515DNAH5n.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
5g.13829570A>TCA443251513DNAH5n.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
5g.13829571A=CA1528458081DNAH5n.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=
5g.13829571A>CCA359199963DNAH5n.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
5g.13829571A>GCA359199964DNAH5n.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
5g.13829571A>TCA359199965DNAH5n.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
5g.13829572C>ACA359199966DNAH5n.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
5g.13829572C=CA1528458082DNAH5n.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=
5g.13829572C>GCA359199967DNAH5n.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
5g.13829572C>TCA3203421DNAH5n.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
5g.13829573G>ACA3203422DNAH5n.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
5g.13829573G>CCA359199968DNAH5n.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
5g.13829573G=CA1528458083DNAH5n.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=
5g.13829573G>TCA359199969DNAH5n.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
5g.13829573_13829575delinsTGCTGAGTGTCCA2580072031DNAH5n.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
5g.13829575_13829577delCA2580617575DNAH5n.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
5g.13829574T>ACA359199972DNAH5n.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
5g.13829574T>CCA359199971DNAH5n.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
5g.13829574T>GCA359199970DNAH5n.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
5g.13829575T>ACA359199975DNAH5n.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
5g.13829575T>CCA359199973DNAH5n.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
5g.13829575T>GCA359199974DNAH5n.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
5g.13829576G>ACA443251522DNAH5n.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
5g.13829576G>CCA359199976DNAH5n.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
5g.13829576G=CA1528458084DNAH5n.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=
5g.13829576G>TCA359199977DNAH5n.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
5g.13829577T>ACA359199978DNAH5n.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
5g.13829577T>CCA359199979DNAH5n.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
5g.13829577T>GCA359199980DNAH5n.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
5g.13829578C>ACA3203423DNAH5n.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
5g.13829578C=CA1528458085DNAH5n.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=
5g.13829578C>GCA359199984DNAH5n.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
5g.13829578C>TCA359199982DNAH5n.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
5g.13829579A>CCA359199986DNAH5n.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
5g.13829579A>GCA443251532DNAH5n.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
5g.13829579A>TCA443251533DNAH5n.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
5g.13829580A>CCA359199988DNAH5n.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
5g.13829580A>GCA359199990DNAH5n.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
5g.13829580A>TCA359199992DNAH5n.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
5g.13829581_13829583delCA645541011DNAH5n.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
5g.13829581T>ACA359199993DNAH5n.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
5g.13829581T>CCA359199996DNAH5n.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
5g.13829581T>GCA359199994DNAH5n.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
5g.13829581T=CA1528458086DNAH5n.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=
5g.13829582G>ACA3203424DNAH5n.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
5g.13829582G>CCA359199999DNAH5n.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
5g.13829582G=CA1528458087DNAH5n.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=
5g.13829582G>TCA359200001DNAH5n.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
5g.13829583A>CCA359200003DNAH5n.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
5g.13829583A>GCA359200004DNAH5n.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
5g.13829583A>TCA359200005DNAH5n.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
5g.13829584A>CCA359200008DNAH5n.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
5g.13829584A>GCA359200010DNAH5n.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
5g.13829584A>TCA359200012DNAH5n.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
5g.13829585G>ACA443251541DNAH5n.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
5g.13829585G>CCA443251542DNAH5n.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
5g.13829585G>TCA443251543DNAH5n.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
5g.13829586C>ACA359200014DNAH5n.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
5g.13829586C>GCA359200016DNAH5n.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
5g.13829586C>TCA359200018DNAH5n.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
5g.13829587delCA2573138475DNAH5n.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
5g.13829587C>ACA359200020DNAH5n.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
5g.13829587C>GCA359200021DNAH5n.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
5g.13829587C>TCA359200019DNAH5n.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
5g.13829588A=CA1528458088DNAH5n.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=
5g.13829588A>CCA359200023DNAH5n.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
5g.13829588A>GCA443251548DNAH5n.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
5g.13829588A>TCA359200024DNAH5n.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
5g.13829588_13829589delinsACCA1528458089DNAH5n.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
5g.13829589delCA1528458090DNAH5n.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
5g.13829589C>ACA359200026DNAH5n.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
5g.13829589C=CA1528458091DNAH5n.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=
5g.13829589C>GCA359200028DNAH5n.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
5g.13829589C>TCA3203425DNAH5n.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
5g.13829590A=CA1528458092DNAH5n.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=
5g.13829590A>CCA359200031DNAH5n.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
5g.13829590A>GCA359200033DNAH5n.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
5g.13829590A>TCA359200035DNAH5n.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
5g.13829591A=CA1528458093DNAH5n.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=
5g.13829591A>CCA359200037DNAH5n.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
5g.13829591A>GCA113937674DNAH5n.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
5g.13829591A>TCA359200039DNAH5n.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
5g.13829592C>ACA359200042DNAH5n.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
5g.13829592C>GCA359200044DNAH5n.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
5g.13829592C>TCA359200049DNAH5n.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
5g.13829593T>ACA359200054DNAH5n.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
5g.13829593T>CCA359200052DNAH5n.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
5g.13829593T>GCA3203426DNAH5n.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
5g.13829593T=CA1528458094DNAH5n.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=
5g.13829594A>CCA443251555DNAH5n.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
5g.13829594A>GCA443251556DNAH5n.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
5g.13829594A>TCA443251557DNAH5n.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
5g.13829595G>ACA359200057DNAH5n.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
5g.13829595G>CCA359200058DNAH5n.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
5g.13829595G=CA1528458095DNAH5n.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=
5g.13829595G>TCA359200060DNAH5n.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
5g.13829596C>ACA359200062DNAH5n.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
5g.13829596C=CA1528458096DNAH5n.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=
5g.13829596C>GCA359200063DNAH5n.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
5g.13829596C>TCA359200065DNAH5n.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
5g.13829597C>ACA359200067DNAH5n.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
5g.13829597C>GCA359200069DNAH5n.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
5g.13829597C>TCA443251561DNAH5n.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
5g.13829598A>CCA359200071DNAH5n.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
5g.13829598A>GCA359200073DNAH5n.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
5g.13829598A>TCA359200075DNAH5n.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
5g.13829599A=CA1528458097DNAH5n.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=
5g.13829599A>CCA359200077DNAH5n.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
5g.13829599A>GCA443251565DNAH5n.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
5g.13829599A>TCA3203427DNAH5n.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
5g.13829600C>ACA359200080DNAH5n.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
5g.13829600C>GCA359200082DNAH5n.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
5g.13829600C>TCA443251569DNAH5n.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
5g.13829601T>ACA359200084DNAH5n.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
5g.13829601T>CCA359200086DNAH5n.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
5g.13829601T>GCA359200088DNAH5n.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
5g.13829602T>ACA113937690DNAH5n.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
5g.13829602T>CCA359200091DNAH5n.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
5g.13829602T>GCA359200093DNAH5n.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
5g.13829602T=CA1528458098DNAH5n.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=
5g.13829603C>ACA443251574DNAH5n.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
5g.13829603C>GCA443251576DNAH5n.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
5g.13829603C>TCA443251575DNAH5n.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
5g.13829604A>CCA359200098DNAH5n.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
5g.13829604A>GCA359200096DNAH5n.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
5g.13829604A>TCA359200097DNAH5n.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
5g.13829605C>ACA359200100DNAH5n.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
5g.13829605C=CA1528458099DNAH5n.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=
5g.13829605C>GCA359200101DNAH5n.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
5g.13829605C>TCA359200103DNAH5n.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
5g.13829607delCA2765349446DNAH5n.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
5g.13829606C>ACA359200105DNAH5n.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
5g.13829606C=CA1528458100DNAH5n.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=
5g.13829606C>GCA359200107DNAH5n.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
5g.13829606C>TCA443251579DNAH5n.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
5g.13829607C>ACA359200108DNAH5n.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
5g.13829607C=CA1528458101DNAH5n.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=
5g.13829607C>GCA359200111DNAH5n.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
5g.13829607C>TCA3203428DNAH5n.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
5g.13829608T>ACA359200113DNAH5n.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
5g.13829608T>CCA359200121DNAH5n.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
5g.13829608T>GCA3203429DNAH5n.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
5g.13829608T=CA1528458102DNAH5n.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=
5g.13829609T>ACA443251585DNAH5n.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
5g.13829609T>CCA359200125DNAH5n.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
5g.13829609T>GCA443251586DNAH5n.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
5g.13829610A>CCA359200126DNAH5n.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
5g.13829610A>GCA359200127DNAH5n.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
5g.13829610A>TCA359200128DNAH5n.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
5g.13829610_13829611delinsATCA1528458103DNAH5n.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
5g.13829611delCA557876803DNAH5n.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
5g.13829611T>ACA359200129DNAH5n.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
5g.13829611T>CCA359200130DNAH5n.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
5g.13829611T>GCA359200132DNAH5n.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
5g.13829611T=CA1528458104DNAH5n.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=
5g.13829612G>ACA443251592DNAH5n.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
5g.13829612G>CCA359200134DNAH5n.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
5g.13829612G>TCA443251591DNAH5n.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
5g.13829613A>CCA359200136DNAH5n.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
5g.13829613A>GCA359200139DNAH5n.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
5g.13829613A>TCA359200137DNAH5n.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
5g.13829614T>ACA359200141DNAH5n.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
5g.13829614T>CCA359200145DNAH5n.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
5g.13829614T>GCA359200143DNAH5n.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
5g.13829614T=CA1528458105DNAH5n.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=
5g.13829615A>CCA359200147DNAH5n.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
5g.13829615A>GCA443251596DNAH5n.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
5g.13829615A>TCA443251597DNAH5n.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
5g.13829616A>CCA359200154DNAH5n.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
5g.13829616A>GCA359200150DNAH5n.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
5g.13829616A>TCA359200152DNAH5n.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
5g.13829617T>ACA359200156DNAH5n.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
5g.13829617T>CCA359200158DNAH5n.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
5g.13829617T>GCA359200160DNAH5n.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
5g.13829618C>ACA359200162DNAH5n.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
5g.13829618C=CA1528458106DNAH5n.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=
5g.13829618C>GCA359200163DNAH5n.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
5g.13829618C>TCA443251601DNAH5n.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
5g.13829618_13829619insACA350172DNAH5n.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
5g.13829619T>ACA359200166DNAH5n.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
5g.13829619T>CCA359200167DNAH5n.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
5g.13829619T>GCA359200169DNAH5n.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
5g.13829620G>ACA359200176DNAH5n.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
5g.13829620G>CCA359200173DNAH5n.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
5g.13829620G>TCA359200172DNAH5n.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
5g.13829621A>CCA443251603DNAH5n.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
5g.13829621A>GCA443251604DNAH5n.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
5g.13829621A>TCA443251605DNAH5n.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
5g.13829622C>ACA359200178DNAH5n.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
5g.13829622C=CA1528458107DNAH5n.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=
5g.13829622C>GCA359200180DNAH5n.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
5g.13829622C>TCA113937714DNAH5n.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
5g.13829623G>ACA113937720DNAH5n.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
5g.13829623G>CCA359200184DNAH5n.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
5g.13829623G=CA1528458108DNAH5n.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=
5g.13829623G>TCA359200185DNAH5n.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
5g.13829624G>ACA443251610DNAH5n.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
5g.13829624G>CCA359200187DNAH5n.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
5g.13829624G>TCA359200189DNAH5n.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
5g.13829625T>ACA359200190DNAH5n.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
5g.13829625T>CCA359200191DNAH5n.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
5g.13829625T>GCA359200193DNAH5n.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
5g.13829625T=CA1528458109DNAH5n.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=
5g.13829626C>ACA359200198DNAH5n.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
5g.13829626C>GCA359200196DNAH5n.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
5g.13829626C>TCA359200195DNAH5n.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
5g.13829627A>CCA443251613DNAH5n.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
5g.13829627A>GCA443251614DNAH5n.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
5g.13829627A>TCA443251616DNAH5n.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

Number of alleles fetched