Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13735222C>ACA359223192DNAH5c.11670G>T (p.Glu3890Asp)
c.11625G>T (p.Glu3875Asp)
c.11778G>T (p.Glu3926Asp)
c.10683G>T (p.Glu3561Asp)
c.6867G>T (p.Glu2289Asp)
c.6420G>T (p.Glu2140Asp)
c.5757G>T (p.Glu1919Asp)
c.10272G>T (p.Glu3424Asp)
5g.13735222C=CA1528414838DNAH5c.11670G= (p.Glu3890=)
c.11625G= (p.Glu3875=)
c.11778G= (p.Glu3926=)
c.10683G= (p.Glu3561=)
c.6867G= (p.Glu2289=)
c.6420G= (p.Glu2140=)
c.5757G= (p.Glu1919=)
c.10272G= (p.Glu3424=)
5g.13735222C>GCA359223195DNAH5c.11670G>C (p.Glu3890Asp)
c.11625G>C (p.Glu3875Asp)
c.11778G>C (p.Glu3926Asp)
c.10683G>C (p.Glu3561Asp)
c.6867G>C (p.Glu2289Asp)
c.6420G>C (p.Glu2140Asp)
c.5757G>C (p.Glu1919Asp)
c.10272G>C (p.Glu3424Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.13735222C>TCA443260023DNAH5c.11670G>A (p.Glu3890=)
c.11625G>A (p.Glu3875=)
c.11778G>A (p.Glu3926=)
c.10683G>A (p.Glu3561=)
c.6867G>A (p.Glu2289=)
c.6420G>A (p.Glu2140=)
c.5757G>A (p.Glu1919=)
c.10272G>A (p.Glu3424=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735223T>ACA359223197DNAH5c.11669A>T (p.Glu3890Val)
c.11624A>T (p.Glu3875Val)
c.11777A>T (p.Glu3926Val)
c.10682A>T (p.Glu3561Val)
c.6866A>T (p.Glu2289Val)
c.6419A>T (p.Glu2140Val)
c.5756A>T (p.Glu1919Val)
c.10271A>T (p.Glu3424Val)
5g.13735223T>CCA359223198DNAH5c.11669A>G (p.Glu3890Gly)
c.11624A>G (p.Glu3875Gly)
c.11777A>G (p.Glu3926Gly)
c.10682A>G (p.Glu3561Gly)
c.6866A>G (p.Glu2289Gly)
c.6419A>G (p.Glu2140Gly)
c.5756A>G (p.Glu1919Gly)
c.10271A>G (p.Glu3424Gly)
5g.13735223T>GCA359223199DNAH5c.11669A>C (p.Glu3890Ala)
c.11624A>C (p.Glu3875Ala)
c.11777A>C (p.Glu3926Ala)
c.10682A>C (p.Glu3561Ala)
c.6866A>C (p.Glu2289Ala)
c.6419A>C (p.Glu2140Ala)
c.5756A>C (p.Glu1919Ala)
c.10271A>C (p.Glu3424Ala)
5g.13735224C>ACA359223211DNAH5c.11668G>T (p.Glu3890Ter)
c.11623G>T (p.Glu3875Ter)
c.11776G>T (p.Glu3926Ter)
c.10681G>T (p.Glu3561Ter)
c.6865G>T (p.Glu2289Ter)
c.6418G>T (p.Glu2140Ter)
c.5755G>T (p.Glu1919Ter)
c.10270G>T (p.Glu3424Ter)
 ClinVar gnomAD v4
5g.13735224C>GCA359223203DNAH5c.11668G>C (p.Glu3890Gln)
c.11623G>C (p.Glu3875Gln)
c.11776G>C (p.Glu3926Gln)
c.10681G>C (p.Glu3561Gln)
c.6865G>C (p.Glu2289Gln)
c.6418G>C (p.Glu2140Gln)
c.5755G>C (p.Glu1919Gln)
c.10270G>C (p.Glu3424Gln)
5g.13735224C>TCA359223210DNAH5c.11668G>A (p.Glu3890Lys)
c.11623G>A (p.Glu3875Lys)
c.11776G>A (p.Glu3926Lys)
c.10681G>A (p.Glu3561Lys)
c.6865G>A (p.Glu2289Lys)
c.6418G>A (p.Glu2140Lys)
c.5755G>A (p.Glu1919Lys)
c.10270G>A (p.Glu3424Lys)
 COSMIC
5g.13735229_13735239delCA2573138433DNAH5c.11658_11668del (p.Leu3887AlafsTer14)
c.11613_11623del (p.Leu3872AlafsTer14)
c.11766_11776del (p.Leu3923AlafsTer14)
c.10671_10681del (p.Leu3558AlafsTer14)
c.6855_6865del (p.Leu2286AlafsTer14)
c.6408_6418del (p.Leu2137AlafsTer14)
c.5745_5755del (p.Leu1916AlafsTer14)
c.10260_10270del (p.Leu3421AlafsTer14)
 ClinVar dbSNP
5g.13735225C>ACA359223214DNAH5c.11667G>T (p.Glu3889Asp)
c.11622G>T (p.Glu3874Asp)
c.11775G>T (p.Glu3925Asp)
c.10680G>T (p.Glu3560Asp)
c.6864G>T (p.Glu2288Asp)
c.6417G>T (p.Glu2139Asp)
c.5754G>T (p.Glu1918Asp)
c.10269G>T (p.Glu3423Asp)
5g.13735225C>GCA359223215DNAH5c.11667G>C (p.Glu3889Asp)
c.11622G>C (p.Glu3874Asp)
c.11775G>C (p.Glu3925Asp)
c.10680G>C (p.Glu3560Asp)
c.6864G>C (p.Glu2288Asp)
c.6417G>C (p.Glu2139Asp)
c.5754G>C (p.Glu1918Asp)
c.10269G>C (p.Glu3423Asp)
5g.13735225C>TCA443260024DNAH5c.11667G>A (p.Glu3889=)
c.11622G>A (p.Glu3874=)
c.11775G>A (p.Glu3925=)
c.10680G>A (p.Glu3560=)
c.6864G>A (p.Glu2288=)
c.6417G>A (p.Glu2139=)
c.5754G>A (p.Glu1918=)
c.10269G>A (p.Glu3423=)
5g.13735226T>ACA359223216DNAH5c.11666A>T (p.Glu3889Val)
c.11621A>T (p.Glu3874Val)
c.11774A>T (p.Glu3925Val)
c.10679A>T (p.Glu3560Val)
c.6863A>T (p.Glu2288Val)
c.6416A>T (p.Glu2139Val)
c.5753A>T (p.Glu1918Val)
c.10268A>T (p.Glu3423Val)
5g.13735226T>CCA359223218DNAH5c.11666A>G (p.Glu3889Gly)
c.11621A>G (p.Glu3874Gly)
c.11774A>G (p.Glu3925Gly)
c.10679A>G (p.Glu3560Gly)
c.6863A>G (p.Glu2288Gly)
c.6416A>G (p.Glu2139Gly)
c.5753A>G (p.Glu1918Gly)
c.10268A>G (p.Glu3423Gly)
5g.13735226T>GCA359223222DNAH5c.11666A>C (p.Glu3889Ala)
c.11621A>C (p.Glu3874Ala)
c.11774A>C (p.Glu3925Ala)
c.10679A>C (p.Glu3560Ala)
c.6863A>C (p.Glu2288Ala)
c.6416A>C (p.Glu2139Ala)
c.5753A>C (p.Glu1918Ala)
c.10268A>C (p.Glu3423Ala)
5g.13735227C>ACA359223225DNAH5c.11665G>T (p.Glu3889Ter)
c.11620G>T (p.Glu3874Ter)
c.11773G>T (p.Glu3925Ter)
c.10678G>T (p.Glu3560Ter)
c.6862G>T (p.Glu2288Ter)
c.6415G>T (p.Glu2139Ter)
c.5752G>T (p.Glu1918Ter)
c.10267G>T (p.Glu3423Ter)
5g.13735227C=CA1528414839DNAH5c.11665G= (p.Glu3889=)
c.11620G= (p.Glu3874=)
c.11773G= (p.Glu3925=)
c.10678G= (p.Glu3560=)
c.6862G= (p.Glu2288=)
c.6415G= (p.Glu2139=)
c.5752G= (p.Glu1918=)
c.10267G= (p.Glu3423=)
5g.13735227C>GCA359223226DNAH5c.11665G>C (p.Glu3889Gln)
c.11620G>C (p.Glu3874Gln)
c.11773G>C (p.Glu3925Gln)
c.10678G>C (p.Glu3560Gln)
c.6862G>C (p.Glu2288Gln)
c.6415G>C (p.Glu2139Gln)
c.5752G>C (p.Glu1918Gln)
c.10267G>C (p.Glu3423Gln)
5g.13735227C>TCA359223230DNAH5c.11665G>A (p.Glu3889Lys)
c.11620G>A (p.Glu3874Lys)
c.11773G>A (p.Glu3925Lys)
c.10678G>A (p.Glu3560Lys)
c.6862G>A (p.Glu2288Lys)
c.6415G>A (p.Glu2139Lys)
c.5752G>A (p.Glu1918Lys)
c.10267G>A (p.Glu3423Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13735228G>ACA3201878DNAH5c.11664C>T (p.Tyr3888=)
c.11619C>T (p.Tyr3873=)
c.11772C>T (p.Tyr3924=)
c.10677C>T (p.Tyr3559=)
c.6861C>T (p.Tyr2287=)
c.6414C>T (p.Tyr2138=)
c.5751C>T (p.Tyr1917=)
c.10266C>T (p.Tyr3422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735228G>CCA359223235DNAH5c.11664C>G (p.Tyr3888Ter)
c.11619C>G (p.Tyr3873Ter)
c.11772C>G (p.Tyr3924Ter)
c.10677C>G (p.Tyr3559Ter)
c.6861C>G (p.Tyr2287Ter)
c.6414C>G (p.Tyr2138Ter)
c.5751C>G (p.Tyr1917Ter)
c.10266C>G (p.Tyr3422Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735228G=CA1528414840DNAH5c.11664C= (p.Tyr3888=)
c.11619C= (p.Tyr3873=)
c.11772C= (p.Tyr3924=)
c.10677C= (p.Tyr3559=)
c.6861C= (p.Tyr2287=)
c.6414C= (p.Tyr2138=)
c.5751C= (p.Tyr1917=)
c.10266C= (p.Tyr3422=)
5g.13735228G>TCA359223238DNAH5c.11664C>A (p.Tyr3888Ter)
c.11619C>A (p.Tyr3873Ter)
c.11772C>A (p.Tyr3924Ter)
c.10677C>A (p.Tyr3559Ter)
c.6861C>A (p.Tyr2287Ter)
c.6414C>A (p.Tyr2138Ter)
c.5751C>A (p.Tyr1917Ter)
c.10266C>A (p.Tyr3422Ter)
 COSMIC
5g.13735229T>ACA359223241DNAH5c.11663A>T (p.Tyr3888Phe)
c.11618A>T (p.Tyr3873Phe)
c.11771A>T (p.Tyr3924Phe)
c.10676A>T (p.Tyr3559Phe)
c.6860A>T (p.Tyr2287Phe)
c.6413A>T (p.Tyr2138Phe)
c.5750A>T (p.Tyr1917Phe)
c.10265A>T (p.Tyr3422Phe)
5g.13735229T>CCA359223244DNAH5c.11663A>G (p.Tyr3888Cys)
c.11618A>G (p.Tyr3873Cys)
c.11771A>G (p.Tyr3924Cys)
c.10676A>G (p.Tyr3559Cys)
c.6860A>G (p.Tyr2287Cys)
c.6413A>G (p.Tyr2138Cys)
c.5750A>G (p.Tyr1917Cys)
c.10265A>G (p.Tyr3422Cys)
 gnomAD v4
5g.13735229T>GCA359223239DNAH5c.11663A>C (p.Tyr3888Ser)
c.11618A>C (p.Tyr3873Ser)
c.11771A>C (p.Tyr3924Ser)
c.10676A>C (p.Tyr3559Ser)
c.6860A>C (p.Tyr2287Ser)
c.6413A>C (p.Tyr2138Ser)
c.5750A>C (p.Tyr1917Ser)
c.10265A>C (p.Tyr3422Ser)
5g.13735230A>CCA359223248DNAH5c.11662T>G (p.Tyr3888Asp)
c.11617T>G (p.Tyr3873Asp)
c.11770T>G (p.Tyr3924Asp)
c.10675T>G (p.Tyr3559Asp)
c.6859T>G (p.Tyr2287Asp)
c.6412T>G (p.Tyr2138Asp)
c.5749T>G (p.Tyr1917Asp)
c.10264T>G (p.Tyr3422Asp)
5g.13735230A>GCA359223257DNAH5c.11662T>C (p.Tyr3888His)
c.11617T>C (p.Tyr3873His)
c.11770T>C (p.Tyr3924His)
c.10675T>C (p.Tyr3559His)
c.6859T>C (p.Tyr2287His)
c.6412T>C (p.Tyr2138His)
c.5749T>C (p.Tyr1917His)
c.10264T>C (p.Tyr3422His)
5g.13735230A>TCA359223259DNAH5c.11662T>A (p.Tyr3888Asn)
c.11617T>A (p.Tyr3873Asn)
c.11770T>A (p.Tyr3924Asn)
c.10675T>A (p.Tyr3559Asn)
c.6859T>A (p.Tyr2287Asn)
c.6412T>A (p.Tyr2138Asn)
c.5749T>A (p.Tyr1917Asn)
c.10264T>A (p.Tyr3422Asn)
5g.13735231C>ACA443260025DNAH5c.11661G>T (p.Leu3887=)
c.11616G>T (p.Leu3872=)
c.11769G>T (p.Leu3923=)
c.10674G>T (p.Leu3558=)
c.6858G>T (p.Leu2286=)
c.6411G>T (p.Leu2137=)
c.5748G>T (p.Leu1916=)
c.10263G>T (p.Leu3421=)
5g.13735231C=CA1528414841DNAH5c.11661G= (p.Leu3887=)
c.11616G= (p.Leu3872=)
c.11769G= (p.Leu3923=)
c.10674G= (p.Leu3558=)
c.6858G= (p.Leu2286=)
c.6411G= (p.Leu2137=)
c.5748G= (p.Leu1916=)
c.10263G= (p.Leu3421=)
5g.13735231C>GCA443260026DNAH5c.11661G>C (p.Leu3887=)
c.11616G>C (p.Leu3872=)
c.11769G>C (p.Leu3923=)
c.10674G>C (p.Leu3558=)
c.6858G>C (p.Leu2286=)
c.6411G>C (p.Leu2137=)
c.5748G>C (p.Leu1916=)
c.10263G>C (p.Leu3421=)
5g.13735231C>TCA443260027DNAH5c.11661G>A (p.Leu3887=)
c.11616G>A (p.Leu3872=)
c.11769G>A (p.Leu3923=)
c.10674G>A (p.Leu3558=)
c.6858G>A (p.Leu2286=)
c.6411G>A (p.Leu2137=)
c.5748G>A (p.Leu1916=)
c.10263G>A (p.Leu3421=)
 ClinVar dbSNP
5g.13735232A>CCA359223262DNAH5c.11660T>G (p.Leu3887Arg)
c.11615T>G (p.Leu3872Arg)
c.11768T>G (p.Leu3923Arg)
c.10673T>G (p.Leu3558Arg)
c.6857T>G (p.Leu2286Arg)
c.6410T>G (p.Leu2137Arg)
c.5747T>G (p.Leu1916Arg)
c.10262T>G (p.Leu3421Arg)
5g.13735232A>GCA359223265DNAH5c.11660T>C (p.Leu3887Pro)
c.11615T>C (p.Leu3872Pro)
c.11768T>C (p.Leu3923Pro)
c.10673T>C (p.Leu3558Pro)
c.6857T>C (p.Leu2286Pro)
c.6410T>C (p.Leu2137Pro)
c.5747T>C (p.Leu1916Pro)
c.10262T>C (p.Leu3421Pro)
5g.13735232A>TCA359223267DNAH5c.11660T>A (p.Leu3887Gln)
c.11615T>A (p.Leu3872Gln)
c.11768T>A (p.Leu3923Gln)
c.10673T>A (p.Leu3558Gln)
c.6857T>A (p.Leu2286Gln)
c.6410T>A (p.Leu2137Gln)
c.5747T>A (p.Leu1916Gln)
c.10262T>A (p.Leu3421Gln)
5g.13735233G>ACA113926968DNAH5c.11659C>T (p.Leu3887=)
c.11614C>T (p.Leu3872=)
c.11767C>T (p.Leu3923=)
c.10672C>T (p.Leu3558=)
c.6856C>T (p.Leu2286=)
c.6409C>T (p.Leu2137=)
c.5746C>T (p.Leu1916=)
c.10261C>T (p.Leu3421=)
 dbSNP
5g.13735233G>CCA359223271DNAH5c.11659C>G (p.Leu3887Val)
c.11614C>G (p.Leu3872Val)
c.11767C>G (p.Leu3923Val)
c.10672C>G (p.Leu3558Val)
c.6856C>G (p.Leu2286Val)
c.6409C>G (p.Leu2137Val)
c.5746C>G (p.Leu1916Val)
c.10261C>G (p.Leu3421Val)
5g.13735233G=CA1528414842DNAH5c.11659C= (p.Leu3887=)
c.11614C= (p.Leu3872=)
c.11767C= (p.Leu3923=)
c.10672C= (p.Leu3558=)
c.6856C= (p.Leu2286=)
c.6409C= (p.Leu2137=)
c.5746C= (p.Leu1916=)
c.10261C= (p.Leu3421=)
5g.13735233G>TCA359223277DNAH5c.11659C>A (p.Leu3887Met)
c.11614C>A (p.Leu3872Met)
c.11767C>A (p.Leu3923Met)
c.10672C>A (p.Leu3558Met)
c.6856C>A (p.Leu2286Met)
c.6409C>A (p.Leu2137Met)
c.5746C>A (p.Leu1916Met)
c.10261C>A (p.Leu3421Met)
5g.13735234C>ACA443260030DNAH5c.11658G>T (p.Gly3886=)
c.11613G>T (p.Gly3871=)
c.11766G>T (p.Gly3922=)
c.10671G>T (p.Gly3557=)
c.6855G>T (p.Gly2285=)
c.6408G>T (p.Gly2136=)
c.5745G>T (p.Gly1915=)
c.10260G>T (p.Gly3420=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735234C=CA1528414843DNAH5c.11658G= (p.Gly3886=)
c.11613G= (p.Gly3871=)
c.11766G= (p.Gly3922=)
c.10671G= (p.Gly3557=)
c.6855G= (p.Gly2285=)
c.6408G= (p.Gly2136=)
c.5745G= (p.Gly1915=)
c.10260G= (p.Gly3420=)
5g.13735234C>GCA443260028DNAH5c.11658G>C (p.Gly3886=)
c.11613G>C (p.Gly3871=)
c.11766G>C (p.Gly3922=)
c.10671G>C (p.Gly3557=)
c.6855G>C (p.Gly2285=)
c.6408G>C (p.Gly2136=)
c.5745G>C (p.Gly1915=)
c.10260G>C (p.Gly3420=)
5g.13735234C>TCA443260029DNAH5c.11658G>A (p.Gly3886=)
c.11613G>A (p.Gly3871=)
c.11766G>A (p.Gly3922=)
c.10671G>A (p.Gly3557=)
c.6855G>A (p.Gly2285=)
c.6408G>A (p.Gly2136=)
c.5745G>A (p.Gly1915=)
c.10260G>A (p.Gly3420=)
 gnomAD v4
5g.13735235C>ACA359223281DNAH5c.11657G>T (p.Gly3886Val)
c.11612G>T (p.Gly3871Val)
c.11765G>T (p.Gly3922Val)
c.10670G>T (p.Gly3557Val)
c.6854G>T (p.Gly2285Val)
c.6407G>T (p.Gly2136Val)
c.5744G>T (p.Gly1915Val)
c.10259G>T (p.Gly3420Val)
 COSMIC
5g.13735235C>GCA359223283DNAH5c.11657G>C (p.Gly3886Ala)
c.11612G>C (p.Gly3871Ala)
c.11765G>C (p.Gly3922Ala)
c.10670G>C (p.Gly3557Ala)
c.6854G>C (p.Gly2285Ala)
c.6407G>C (p.Gly2136Ala)
c.5744G>C (p.Gly1915Ala)
c.10259G>C (p.Gly3420Ala)
5g.13735235C>TCA359223284DNAH5c.11657G>A (p.Gly3886Glu)
c.11612G>A (p.Gly3871Glu)
c.11765G>A (p.Gly3922Glu)
c.10670G>A (p.Gly3557Glu)
c.6854G>A (p.Gly2285Glu)
c.6407G>A (p.Gly2136Glu)
c.5744G>A (p.Gly1915Glu)
c.10259G>A (p.Gly3420Glu)
5g.13735236C>ACA359223289DNAH5c.11656G>T (p.Gly3886Trp)
c.11611G>T (p.Gly3871Trp)
c.11764G>T (p.Gly3922Trp)
c.10669G>T (p.Gly3557Trp)
c.*90G>T (n.*90G>T)
c.6853G>T (p.Gly2285Trp)
c.6406G>T (p.Gly2136Trp)
c.5743G>T (p.Gly1915Trp)
c.10258G>T (p.Gly3420Trp)
5g.13735236C>GCA359223292DNAH5c.11656G>C (p.Gly3886Arg)
c.11611G>C (p.Gly3871Arg)
c.11764G>C (p.Gly3922Arg)
c.10669G>C (p.Gly3557Arg)
c.*90G>C (n.*90G>C)
c.6853G>C (p.Gly2285Arg)
c.6406G>C (p.Gly2136Arg)
c.5743G>C (p.Gly1915Arg)
c.10258G>C (p.Gly3420Arg)
5g.13735236C>TCA359223285DNAH5c.11656G>A (p.Gly3886Arg)
c.11611G>A (p.Gly3871Arg)
c.11764G>A (p.Gly3922Arg)
c.10669G>A (p.Gly3557Arg)
c.*90G>A (n.*90G>A)
c.6853G>A (p.Gly2285Arg)
c.6406G>A (p.Gly2136Arg)
c.5743G>A (p.Gly1915Arg)
c.10258G>A (p.Gly3420Arg)
 gnomAD v4
5g.13735237T>ACA443260031DNAH5c.11655A>T (p.Arg3885=)
c.11610A>T (p.Arg3870=)
c.11763A>T (p.Arg3921=)
c.10668A>T (p.Arg3556=)
c.*89A>T (n.*89A>T)
c.6852A>T (p.Arg2284=)
c.6405A>T (p.Arg2135=)
c.5742A>T (p.Arg1914=)
c.10257A>T (p.Arg3419=)
5g.13735237T>CCA443260032DNAH5c.11655A>G (p.Arg3885=)
c.11610A>G (p.Arg3870=)
c.11763A>G (p.Arg3921=)
c.10668A>G (p.Arg3556=)
c.*89A>G (n.*89A>G)
c.6852A>G (p.Arg2284=)
c.6405A>G (p.Arg2135=)
c.5742A>G (p.Arg1914=)
c.10257A>G (p.Arg3419=)
5g.13735237T>GCA443260033DNAH5c.11655A>C (p.Arg3885=)
c.11610A>C (p.Arg3870=)
c.11763A>C (p.Arg3921=)
c.10668A>C (p.Arg3556=)
c.*89A>C (n.*89A>C)
c.6852A>C (p.Arg2284=)
c.6405A>C (p.Arg2135=)
c.5742A>C (p.Arg1914=)
c.10257A>C (p.Arg3419=)
5g.13735238C>ACA359223296DNAH5c.11654G>T (p.Arg3885Leu)
c.11609G>T (p.Arg3870Leu)
c.11762G>T (p.Arg3921Leu)
c.10667G>T (p.Arg3556Leu)
c.*88G>T (n.*88G>T)
c.6851G>T (p.Arg2284Leu)
c.6404G>T (p.Arg2135Leu)
c.5741G>T (p.Arg1914Leu)
c.10256G>T (p.Arg3419Leu)
5g.13735238C=CA1528414844DNAH5c.11654G= (p.Arg3885=)
c.11609G= (p.Arg3870=)
c.11762G= (p.Arg3921=)
c.10667G= (p.Arg3556=)
c.*88G= (n.*88G=)
c.6851G= (p.Arg2284=)
c.6404G= (p.Arg2135=)
c.5741G= (p.Arg1914=)
c.10256G= (p.Arg3419=)
5g.13735238C>GCA3201880DNAH5c.11654G>C (p.Arg3885Pro)
c.11609G>C (p.Arg3870Pro)
c.11762G>C (p.Arg3921Pro)
c.10667G>C (p.Arg3556Pro)
c.*88G>C (n.*88G>C)
c.6851G>C (p.Arg2284Pro)
c.6404G>C (p.Arg2135Pro)
c.5741G>C (p.Arg1914Pro)
c.10256G>C (p.Arg3419Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735238C>TCA3201879DNAH5c.11654G>A (p.Arg3885Gln)
c.11609G>A (p.Arg3870Gln)
c.11762G>A (p.Arg3921Gln)
c.10667G>A (p.Arg3556Gln)
c.*88G>A (n.*88G>A)
c.6851G>A (p.Arg2284Gln)
c.6404G>A (p.Arg2135Gln)
c.5741G>A (p.Arg1914Gln)
c.10256G>A (p.Arg3419Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735239G>ACA3201881DNAH5c.11653C>T (p.Arg3885Ter)
c.11608C>T (p.Arg3870Ter)
c.11761C>T (p.Arg3921Ter)
c.10666C>T (p.Arg3556Ter)
c.*87C>T (n.*87C>T)
c.6850C>T (p.Arg2284Ter)
c.6403C>T (p.Arg2135Ter)
c.5740C>T (p.Arg1914Ter)
c.10255C>T (p.Arg3419Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735239G>CCA359223315DNAH5c.11653C>G (p.Arg3885Gly)
c.11608C>G (p.Arg3870Gly)
c.11761C>G (p.Arg3921Gly)
c.10666C>G (p.Arg3556Gly)
c.*87C>G (n.*87C>G)
c.6850C>G (p.Arg2284Gly)
c.6403C>G (p.Arg2135Gly)
c.5740C>G (p.Arg1914Gly)
c.10255C>G (p.Arg3419Gly)
5g.13735239G=CA1528414845DNAH5c.11653C= (p.Arg3885=)
c.11608C= (p.Arg3870=)
c.11761C= (p.Arg3921=)
c.10666C= (p.Arg3556=)
c.*87C= (n.*87C=)
c.6850C= (p.Arg2284=)
c.6403C= (p.Arg2135=)
c.5740C= (p.Arg1914=)
c.10255C= (p.Arg3419=)
5g.13735239G>TCA443260034DNAH5c.11653C>A (p.Arg3885=)
c.11608C>A (p.Arg3870=)
c.11761C>A (p.Arg3921=)
c.10666C>A (p.Arg3556=)
c.*87C>A (n.*87C>A)
c.6850C>A (p.Arg2284=)
c.6403C>A (p.Arg2135=)
c.5740C>A (p.Arg1914=)
c.10255C>A (p.Arg3419=)
5g.13735240G>ACA443260037DNAH5c.11652C>T (p.Ala3884=)
c.11607C>T (p.Ala3869=)
c.11760C>T (p.Ala3920=)
c.10665C>T (p.Ala3555=)
c.*86C>T (n.*86C>T)
c.6849C>T (p.Ala2283=)
c.6402C>T (p.Ala2134=)
c.5739C>T (p.Ala1913=)
c.10254C>T (p.Ala3418=)
 COSMIC
5g.13735240G>CCA443260035DNAH5c.11652C>G (p.Ala3884=)
c.11607C>G (p.Ala3869=)
c.11760C>G (p.Ala3920=)
c.10665C>G (p.Ala3555=)
c.*86C>G (n.*86C>G)
c.6849C>G (p.Ala2283=)
c.6402C>G (p.Ala2134=)
c.5739C>G (p.Ala1913=)
c.10254C>G (p.Ala3418=)
5g.13735240G=CA1528414846DNAH5c.11652C= (p.Ala3884=)
c.11607C= (p.Ala3869=)
c.11760C= (p.Ala3920=)
c.10665C= (p.Ala3555=)
c.*86C= (n.*86C=)
c.6849C= (p.Ala2283=)
c.6402C= (p.Ala2134=)
c.5739C= (p.Ala1913=)
c.10254C= (p.Ala3418=)
5g.13735240G>TCA443260036DNAH5c.11652C>A (p.Ala3884=)
c.11607C>A (p.Ala3869=)
c.11760C>A (p.Ala3920=)
c.10665C>A (p.Ala3555=)
c.*86C>A (n.*86C>A)
c.6849C>A (p.Ala2283=)
c.6402C>A (p.Ala2134=)
c.5739C>A (p.Ala1913=)
c.10254C>A (p.Ala3418=)
 dbSNP gnomAD v2 gnomAD v4
5g.13735241G>ACA359223324DNAH5c.11651C>T (p.Ala3884Val)
c.11606C>T (p.Ala3869Val)
c.11759C>T (p.Ala3920Val)
c.10664C>T (p.Ala3555Val)
c.*85C>T (n.*85C>T)
c.6848C>T (p.Ala2283Val)
c.6401C>T (p.Ala2134Val)
c.5738C>T (p.Ala1913Val)
c.10253C>T (p.Ala3418Val)
5g.13735241G>CCA359223322DNAH5c.11651C>G (p.Ala3884Gly)
c.11606C>G (p.Ala3869Gly)
c.11759C>G (p.Ala3920Gly)
c.10664C>G (p.Ala3555Gly)
c.*85C>G (n.*85C>G)
c.6848C>G (p.Ala2283Gly)
c.6401C>G (p.Ala2134Gly)
c.5738C>G (p.Ala1913Gly)
c.10253C>G (p.Ala3418Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.13735241G=CA1528414847DNAH5c.11651C= (p.Ala3884=)
c.11606C= (p.Ala3869=)
c.11759C= (p.Ala3920=)
c.10664C= (p.Ala3555=)
c.*85C= (n.*85C=)
c.6848C= (p.Ala2283=)
c.6401C= (p.Ala2134=)
c.5738C= (p.Ala1913=)
c.10253C= (p.Ala3418=)
5g.13735241G>TCA359223319DNAH5c.11651C>A (p.Ala3884Asp)
c.11606C>A (p.Ala3869Asp)
c.11759C>A (p.Ala3920Asp)
c.10664C>A (p.Ala3555Asp)
c.*85C>A (n.*85C>A)
c.6848C>A (p.Ala2283Asp)
c.6401C>A (p.Ala2134Asp)
c.5738C>A (p.Ala1913Asp)
c.10253C>A (p.Ala3418Asp)
5g.13735242C>ACA359223328DNAH5c.11650G>T (p.Ala3884Ser)
c.11605G>T (p.Ala3869Ser)
c.11758G>T (p.Ala3920Ser)
c.10663G>T (p.Ala3555Ser)
c.*84G>T (n.*84G>T)
c.6847G>T (p.Ala2283Ser)
c.6400G>T (p.Ala2134Ser)
c.5737G>T (p.Ala1913Ser)
c.10252G>T (p.Ala3418Ser)
5g.13735242C>GCA359223329DNAH5c.11650G>C (p.Ala3884Pro)
c.11605G>C (p.Ala3869Pro)
c.11758G>C (p.Ala3920Pro)
c.10663G>C (p.Ala3555Pro)
c.*84G>C (n.*84G>C)
c.6847G>C (p.Ala2283Pro)
c.6400G>C (p.Ala2134Pro)
c.5737G>C (p.Ala1913Pro)
c.10252G>C (p.Ala3418Pro)
5g.13735242C>TCA359223330DNAH5c.11650G>A (p.Ala3884Thr)
c.11605G>A (p.Ala3869Thr)
c.11758G>A (p.Ala3920Thr)
c.10663G>A (p.Ala3555Thr)
c.*84G>A (n.*84G>A)
c.6847G>A (p.Ala2283Thr)
c.6400G>A (p.Ala2134Thr)
c.5737G>A (p.Ala1913Thr)
c.10252G>A (p.Ala3418Thr)
5g.13735243A>CCA443260038DNAH5c.11649T>G (p.Ala3883=)
c.11604T>G (p.Ala3868=)
c.11757T>G (p.Ala3919=)
c.10662T>G (p.Ala3554=)
c.*83T>G (n.*83T>G)
c.6846T>G (p.Ala2282=)
c.6399T>G (p.Ala2133=)
c.5736T>G (p.Ala1912=)
c.10251T>G (p.Ala3417=)
5g.13735243A>GCA443260039DNAH5c.11649T>C (p.Ala3883=)
c.11604T>C (p.Ala3868=)
c.11757T>C (p.Ala3919=)
c.10662T>C (p.Ala3554=)
c.*83T>C (n.*83T>C)
c.6846T>C (p.Ala2282=)
c.6399T>C (p.Ala2133=)
c.5736T>C (p.Ala1912=)
c.10251T>C (p.Ala3417=)
5g.13735243A>TCA443260040DNAH5c.11649T>A (p.Ala3883=)
c.11604T>A (p.Ala3868=)
c.11757T>A (p.Ala3919=)
c.10662T>A (p.Ala3554=)
c.*83T>A (n.*83T>A)
c.6846T>A (p.Ala2282=)
c.6399T>A (p.Ala2133=)
c.5736T>A (p.Ala1912=)
c.10251T>A (p.Ala3417=)
5g.13735244G>ACA359223332DNAH5c.11648C>T (p.Ala3883Val)
c.11603C>T (p.Ala3868Val)
c.11756C>T (p.Ala3919Val)
c.10661C>T (p.Ala3554Val)
c.*82C>T (n.*82C>T)
c.6845C>T (p.Ala2282Val)
c.6398C>T (p.Ala2133Val)
c.5735C>T (p.Ala1912Val)
c.10250C>T (p.Ala3417Val)
 gnomAD v4
5g.13735244G>CCA359223334DNAH5c.11648C>G (p.Ala3883Gly)
c.11603C>G (p.Ala3868Gly)
c.11756C>G (p.Ala3919Gly)
c.10661C>G (p.Ala3554Gly)
c.*82C>G (n.*82C>G)
c.6845C>G (p.Ala2282Gly)
c.6398C>G (p.Ala2133Gly)
c.5735C>G (p.Ala1912Gly)
c.10250C>G (p.Ala3417Gly)
5g.13735244G>TCA359223339DNAH5c.11648C>A (p.Ala3883Asp)
c.11603C>A (p.Ala3868Asp)
c.11756C>A (p.Ala3919Asp)
c.10661C>A (p.Ala3554Asp)
c.*82C>A (n.*82C>A)
c.6845C>A (p.Ala2282Asp)
c.6398C>A (p.Ala2133Asp)
c.5735C>A (p.Ala1912Asp)
c.10250C>A (p.Ala3417Asp)
5g.13735245C>ACA359223359DNAH5c.11647G>T (p.Ala3883Ser)
c.11602G>T (p.Ala3868Ser)
c.11755G>T (p.Ala3919Ser)
c.10660G>T (p.Ala3554Ser)
c.*81G>T (n.*81G>T)
c.6844G>T (p.Ala2282Ser)
c.6397G>T (p.Ala2133Ser)
c.5734G>T (p.Ala1912Ser)
c.10249G>T (p.Ala3417Ser)
5g.13735245C>GCA359223357DNAH5c.11647G>C (p.Ala3883Pro)
c.11602G>C (p.Ala3868Pro)
c.11755G>C (p.Ala3919Pro)
c.10660G>C (p.Ala3554Pro)
c.*81G>C (n.*81G>C)
c.6844G>C (p.Ala2282Pro)
c.6397G>C (p.Ala2133Pro)
c.5734G>C (p.Ala1912Pro)
c.10249G>C (p.Ala3417Pro)
5g.13735245C>TCA359223350DNAH5c.11647G>A (p.Ala3883Thr)
c.11602G>A (p.Ala3868Thr)
c.11755G>A (p.Ala3919Thr)
c.10660G>A (p.Ala3554Thr)
c.*81G>A (n.*81G>A)
c.6844G>A (p.Ala2282Thr)
c.6397G>A (p.Ala2133Thr)
c.5734G>A (p.Ala1912Thr)
c.10249G>A (p.Ala3417Thr)
5g.13735246A=CA1528414848DNAH5c.11646T= (p.Tyr3882=)
c.11601T= (p.Tyr3867=)
c.11754T= (p.Tyr3918=)
c.10659T= (p.Tyr3553=)
c.*80T= (n.*80T=)
c.6843T= (p.Tyr2281=)
c.6396T= (p.Tyr2132=)
c.5733T= (p.Tyr1911=)
c.10248T= (p.Tyr3416=)
5g.13735246A>CCA359223364DNAH5c.11646T>G (p.Tyr3882Ter)
c.11601T>G (p.Tyr3867Ter)
c.11754T>G (p.Tyr3918Ter)
c.10659T>G (p.Tyr3553Ter)
c.*80T>G (n.*80T>G)
c.6843T>G (p.Tyr2281Ter)
c.6396T>G (p.Tyr2132Ter)
c.5733T>G (p.Tyr1911Ter)
c.10248T>G (p.Tyr3416Ter)
5g.13735246A>GCA113926976DNAH5c.11646T>C (p.Tyr3882=)
c.11601T>C (p.Tyr3867=)
c.11754T>C (p.Tyr3918=)
c.10659T>C (p.Tyr3553=)
c.*80T>C (n.*80T>C)
c.6843T>C (p.Tyr2281=)
c.6396T>C (p.Tyr2132=)
c.5733T>C (p.Tyr1911=)
c.10248T>C (p.Tyr3416=)
 dbSNP
5g.13735246A>TCA359223370DNAH5c.11646T>A (p.Tyr3882Ter)
c.11601T>A (p.Tyr3867Ter)
c.11754T>A (p.Tyr3918Ter)
c.10659T>A (p.Tyr3553Ter)
c.*80T>A (n.*80T>A)
c.6843T>A (p.Tyr2281Ter)
c.6396T>A (p.Tyr2132Ter)
c.5733T>A (p.Tyr1911Ter)
c.10248T>A (p.Tyr3416Ter)
5g.13735247T>ACA359223372DNAH5c.11645A>T (p.Tyr3882Phe)
c.11600A>T (p.Tyr3867Phe)
c.11753A>T (p.Tyr3918Phe)
c.10658A>T (p.Tyr3553Phe)
c.*79A>T (n.*79A>T)
c.6842A>T (p.Tyr2281Phe)
c.6395A>T (p.Tyr2132Phe)
c.5732A>T (p.Tyr1911Phe)
c.10247A>T (p.Tyr3416Phe)
5g.13735247T>CCA3201882DNAH5c.11645A>G (p.Tyr3882Cys)
c.11600A>G (p.Tyr3867Cys)
c.11753A>G (p.Tyr3918Cys)
c.10658A>G (p.Tyr3553Cys)
c.*79A>G (n.*79A>G)
c.6842A>G (p.Tyr2281Cys)
c.6395A>G (p.Tyr2132Cys)
c.5732A>G (p.Tyr1911Cys)
c.10247A>G (p.Tyr3416Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735247T>GCA359223374DNAH5c.11645A>C (p.Tyr3882Ser)
c.11600A>C (p.Tyr3867Ser)
c.11753A>C (p.Tyr3918Ser)
c.10658A>C (p.Tyr3553Ser)
c.*79A>C (n.*79A>C)
c.6842A>C (p.Tyr2281Ser)
c.6395A>C (p.Tyr2132Ser)
c.5732A>C (p.Tyr1911Ser)
c.10247A>C (p.Tyr3416Ser)
5g.13735247T=CA1528414849DNAH5c.11645A= (p.Tyr3882=)
c.11600A= (p.Tyr3867=)
c.11753A= (p.Tyr3918=)
c.10658A= (p.Tyr3553=)
c.*79A= (n.*79A=)
c.6842A= (p.Tyr2281=)
c.6395A= (p.Tyr2132=)
c.5732A= (p.Tyr1911=)
c.10247A= (p.Tyr3416=)
5g.13735248A>CCA359223382DNAH5c.11644T>G (p.Tyr3882Asp)
c.11599T>G (p.Tyr3867Asp)
c.11752T>G (p.Tyr3918Asp)
c.10657T>G (p.Tyr3553Asp)
c.*78T>G (n.*78T>G)
c.6841T>G (p.Tyr2281Asp)
c.6394T>G (p.Tyr2132Asp)
c.5731T>G (p.Tyr1911Asp)
c.10246T>G (p.Tyr3416Asp)
5g.13735248A>GCA359223383DNAH5c.11644T>C (p.Tyr3882His)
c.11599T>C (p.Tyr3867His)
c.11752T>C (p.Tyr3918His)
c.10657T>C (p.Tyr3553His)
c.*78T>C (n.*78T>C)
c.6841T>C (p.Tyr2281His)
c.6394T>C (p.Tyr2132His)
c.5731T>C (p.Tyr1911His)
c.10246T>C (p.Tyr3416His)
5g.13735248A>TCA359223384DNAH5c.11644T>A (p.Tyr3882Asn)
c.11599T>A (p.Tyr3867Asn)
c.11752T>A (p.Tyr3918Asn)
c.10657T>A (p.Tyr3553Asn)
c.*78T>A (n.*78T>A)
c.6841T>A (p.Tyr2281Asn)
c.6394T>A (p.Tyr2132Asn)
c.5731T>A (p.Tyr1911Asn)
c.10246T>A (p.Tyr3416Asn)
5g.13735249C>ACA359223386DNAH5c.11643G>T (p.Lys3881Asn)
c.11598G>T (p.Lys3866Asn)
c.11751G>T (p.Lys3917Asn)
c.10656G>T (p.Lys3552Asn)
c.*77G>T (n.*77G>T)
c.6840G>T (p.Lys2280Asn)
c.6393G>T (p.Lys2131Asn)
c.5730G>T (p.Lys1910Asn)
c.10245G>T (p.Lys3415Asn)
5g.13735249C=CA1528414850DNAH5c.11643G= (p.Lys3881=)
c.11598G= (p.Lys3866=)
c.11751G= (p.Lys3917=)
c.10656G= (p.Lys3552=)
c.*77G= (n.*77G=)
c.6840G= (p.Lys2280=)
c.6393G= (p.Lys2131=)
c.5730G= (p.Lys1910=)
c.10245G= (p.Lys3415=)
5g.13735249C>GCA359223388DNAH5c.11643G>C (p.Lys3881Asn)
c.11598G>C (p.Lys3866Asn)
c.11751G>C (p.Lys3917Asn)
c.10656G>C (p.Lys3552Asn)
c.*77G>C (n.*77G>C)
c.6840G>C (p.Lys2280Asn)
c.6393G>C (p.Lys2131Asn)
c.5730G>C (p.Lys1910Asn)
c.10245G>C (p.Lys3415Asn)
5g.13735249C>TCA443260042DNAH5c.11643G>A (p.Lys3881=)
c.11598G>A (p.Lys3866=)
c.11751G>A (p.Lys3917=)
c.10656G>A (p.Lys3552=)
c.*77G>A (n.*77G>A)
c.6840G>A (p.Lys2280=)
c.6393G>A (p.Lys2131=)
c.5730G>A (p.Lys1910=)
c.10245G>A (p.Lys3415=)
 dbSNP
5g.13735250T>ACA359223393DNAH5c.11642A>T (p.Lys3881Met)
c.11597A>T (p.Lys3866Met)
c.11750A>T (p.Lys3917Met)
c.10655A>T (p.Lys3552Met)
c.*76A>T (n.*76A>T)
c.6839A>T (p.Lys2280Met)
c.6392A>T (p.Lys2131Met)
c.5729A>T (p.Lys1910Met)
c.10244A>T (p.Lys3415Met)
5g.13735250T>CCA359223395DNAH5c.11642A>G (p.Lys3881Arg)
c.11597A>G (p.Lys3866Arg)
c.11750A>G (p.Lys3917Arg)
c.10655A>G (p.Lys3552Arg)
c.*76A>G (n.*76A>G)
c.6839A>G (p.Lys2280Arg)
c.6392A>G (p.Lys2131Arg)
c.5729A>G (p.Lys1910Arg)
c.10244A>G (p.Lys3415Arg)
5g.13735250T>GCA359223396DNAH5c.11642A>C (p.Lys3881Thr)
c.11597A>C (p.Lys3866Thr)
c.11750A>C (p.Lys3917Thr)
c.10655A>C (p.Lys3552Thr)
c.*76A>C (n.*76A>C)
c.6839A>C (p.Lys2280Thr)
c.6392A>C (p.Lys2131Thr)
c.5729A>C (p.Lys1910Thr)
c.10244A>C (p.Lys3415Thr)
5g.13735251T>ACA359223397DNAH5c.11641A>T (p.Lys3881Ter)
c.11596A>T (p.Lys3866Ter)
c.11749A>T (p.Lys3917Ter)
c.10654A>T (p.Lys3552Ter)
c.*75A>T (n.*75A>T)
c.6838A>T (p.Lys2280Ter)
c.6391A>T (p.Lys2131Ter)
c.5728A>T (p.Lys1910Ter)
c.10243A>T (p.Lys3415Ter)
5g.13735251T>CCA359223400DNAH5c.11641A>G (p.Lys3881Glu)
c.11596A>G (p.Lys3866Glu)
c.11749A>G (p.Lys3917Glu)
c.10654A>G (p.Lys3552Glu)
c.*75A>G (n.*75A>G)
c.6838A>G (p.Lys2280Glu)
c.6391A>G (p.Lys2131Glu)
c.5728A>G (p.Lys1910Glu)
c.10243A>G (p.Lys3415Glu)
5g.13735251T>GCA359223402DNAH5c.11641A>C (p.Lys3881Gln)
c.11596A>C (p.Lys3866Gln)
c.11749A>C (p.Lys3917Gln)
c.10654A>C (p.Lys3552Gln)
c.*75A>C (n.*75A>C)
c.6838A>C (p.Lys2280Gln)
c.6391A>C (p.Lys2131Gln)
c.5728A>C (p.Lys1910Gln)
c.10243A>C (p.Lys3415Gln)
5g.13735252A>CCA359223407DNAH5c.11640T>G (p.Tyr3880Ter)
c.11595T>G (p.Tyr3865Ter)
c.11748T>G (p.Tyr3916Ter)
c.10653T>G (p.Tyr3551Ter)
c.*74T>G (n.*74T>G)
c.6837T>G (p.Tyr2279Ter)
c.6390T>G (p.Tyr2130Ter)
c.5727T>G (p.Tyr1909Ter)
c.10242T>G (p.Tyr3414Ter)
5g.13735252A>GCA443260043DNAH5c.11640T>C (p.Tyr3880=)
c.11595T>C (p.Tyr3865=)
c.11748T>C (p.Tyr3916=)
c.10653T>C (p.Tyr3551=)
c.*74T>C (n.*74T>C)
c.6837T>C (p.Tyr2279=)
c.6390T>C (p.Tyr2130=)
c.5727T>C (p.Tyr1909=)
c.10242T>C (p.Tyr3414=)
5g.13735252A>TCA359223403DNAH5c.11640T>A (p.Tyr3880Ter)
c.11595T>A (p.Tyr3865Ter)
c.11748T>A (p.Tyr3916Ter)
c.10653T>A (p.Tyr3551Ter)
c.*74T>A (n.*74T>A)
c.6837T>A (p.Tyr2279Ter)
c.6390T>A (p.Tyr2130Ter)
c.5727T>A (p.Tyr1909Ter)
c.10242T>A (p.Tyr3414Ter)
5g.13735253T>ACA359223409DNAH5c.11639A>T (p.Tyr3880Phe)
c.11594A>T (p.Tyr3865Phe)
c.11747A>T (p.Tyr3916Phe)
c.10652A>T (p.Tyr3551Phe)
c.*73A>T (n.*73A>T)
c.6836A>T (p.Tyr2279Phe)
c.6389A>T (p.Tyr2130Phe)
c.5726A>T (p.Tyr1909Phe)
c.10241A>T (p.Tyr3414Phe)
5g.13735253T>CCA3201883DNAH5c.11639A>G (p.Tyr3880Cys)
c.11594A>G (p.Tyr3865Cys)
c.11747A>G (p.Tyr3916Cys)
c.10652A>G (p.Tyr3551Cys)
c.*73A>G (n.*73A>G)
c.6836A>G (p.Tyr2279Cys)
c.6389A>G (p.Tyr2130Cys)
c.5726A>G (p.Tyr1909Cys)
c.10241A>G (p.Tyr3414Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735253T>GCA3201884DNAH5c.11639A>C (p.Tyr3880Ser)
c.11594A>C (p.Tyr3865Ser)
c.11747A>C (p.Tyr3916Ser)
c.10652A>C (p.Tyr3551Ser)
c.*73A>C (n.*73A>C)
c.6836A>C (p.Tyr2279Ser)
c.6389A>C (p.Tyr2130Ser)
c.5726A>C (p.Tyr1909Ser)
c.10241A>C (p.Tyr3414Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.13735253T=CA1528414851DNAH5c.11639A= (p.Tyr3880=)
c.11594A= (p.Tyr3865=)
c.11747A= (p.Tyr3916=)
c.10652A= (p.Tyr3551=)
c.*73A= (n.*73A=)
c.6836A= (p.Tyr2279=)
c.6389A= (p.Tyr2130=)
c.5726A= (p.Tyr1909=)
c.10241A= (p.Tyr3414=)
5g.13735254A=CA1528414852DNAH5c.11638T= (p.Tyr3880=)
c.11593T= (p.Tyr3865=)
c.11746T= (p.Tyr3916=)
c.10651T= (p.Tyr3551=)
c.*72T= (n.*72T=)
c.6835T= (p.Tyr2279=)
c.6388T= (p.Tyr2130=)
c.5725T= (p.Tyr1909=)
c.10240T= (p.Tyr3414=)
5g.13735254A>CCA3201885DNAH5c.11638T>G (p.Tyr3880Asp)
c.11593T>G (p.Tyr3865Asp)
c.11746T>G (p.Tyr3916Asp)
c.10651T>G (p.Tyr3551Asp)
c.*72T>G (n.*72T>G)
c.6835T>G (p.Tyr2279Asp)
c.6388T>G (p.Tyr2130Asp)
c.5725T>G (p.Tyr1909Asp)
c.10240T>G (p.Tyr3414Asp)
 dbSNP ExAC
5g.13735254A>GCA359223410DNAH5c.11638T>C (p.Tyr3880His)
c.11593T>C (p.Tyr3865His)
c.11746T>C (p.Tyr3916His)
c.10651T>C (p.Tyr3551His)
c.*72T>C (n.*72T>C)
c.6835T>C (p.Tyr2279His)
c.6388T>C (p.Tyr2130His)
c.5725T>C (p.Tyr1909His)
c.10240T>C (p.Tyr3414His)
 gnomAD v4
5g.13735254A>TCA359223411DNAH5c.11638T>A (p.Tyr3880Asn)
c.11593T>A (p.Tyr3865Asn)
c.11746T>A (p.Tyr3916Asn)
c.10651T>A (p.Tyr3551Asn)
c.*72T>A (n.*72T>A)
c.6835T>A (p.Tyr2279Asn)
c.6388T>A (p.Tyr2130Asn)
c.5725T>A (p.Tyr1909Asn)
c.10240T>A (p.Tyr3414Asn)
5g.13735256delCA2697547021DNAH5c.11638del (p.Tyr3880IlefsTer22)
c.11593del (p.Tyr3865IlefsTer22)
c.11746del (p.Tyr3916IlefsTer22)
c.10651del (p.Tyr3551IlefsTer22)
c.*72del (n.*72del)
c.6835del (p.Tyr2279IlefsTer22)
c.6388del (p.Tyr2130IlefsTer22)
c.5725del (p.Tyr1909IlefsTer22)
c.10240del (p.Tyr3414IlefsTer22)
 ClinVar
5g.13735255A>CCA443260044DNAH5c.11637T>G (p.Val3879=)
c.11592T>G (p.Val3864=)
c.11745T>G (p.Val3915=)
c.10650T>G (p.Val3550=)
c.*71T>G (n.*71T>G)
c.6834T>G (p.Val2278=)
c.6387T>G (p.Val2129=)
c.5724T>G (p.Val1908=)
c.10239T>G (p.Val3413=)
5g.13735255A>GCA443260045DNAH5c.11637T>C (p.Val3879=)
c.11592T>C (p.Val3864=)
c.11745T>C (p.Val3915=)
c.10650T>C (p.Val3550=)
c.*71T>C (n.*71T>C)
c.6834T>C (p.Val2278=)
c.6387T>C (p.Val2129=)
c.5724T>C (p.Val1908=)
c.10239T>C (p.Val3413=)
5g.13735255A>TCA443260046DNAH5c.11637T>A (p.Val3879=)
c.11592T>A (p.Val3864=)
c.11745T>A (p.Val3915=)
c.10650T>A (p.Val3550=)
c.*71T>A (n.*71T>A)
c.6834T>A (p.Val2278=)
c.6387T>A (p.Val2129=)
c.5724T>A (p.Val1908=)
c.10239T>A (p.Val3413=)
5g.13735256A>CCA359223412DNAH5c.11636T>G (p.Val3879Gly)
c.11591T>G (p.Val3864Gly)
c.11744T>G (p.Val3915Gly)
c.10649T>G (p.Val3550Gly)
c.*70T>G (n.*70T>G)
c.6833T>G (p.Val2278Gly)
c.6386T>G (p.Val2129Gly)
c.5723T>G (p.Val1908Gly)
c.10238T>G (p.Val3413Gly)
5g.13735256A>GCA359223413DNAH5c.11636T>C (p.Val3879Ala)
c.11591T>C (p.Val3864Ala)
c.11744T>C (p.Val3915Ala)
c.10649T>C (p.Val3550Ala)
c.*70T>C (n.*70T>C)
c.6833T>C (p.Val2278Ala)
c.6386T>C (p.Val2129Ala)
c.5723T>C (p.Val1908Ala)
c.10238T>C (p.Val3413Ala)
5g.13735256A>TCA359223414DNAH5c.11636T>A (p.Val3879Asp)
c.11591T>A (p.Val3864Asp)
c.11744T>A (p.Val3915Asp)
c.10649T>A (p.Val3550Asp)
c.*70T>A (n.*70T>A)
c.6833T>A (p.Val2278Asp)
c.6386T>A (p.Val2129Asp)
c.5723T>A (p.Val1908Asp)
c.10238T>A (p.Val3413Asp)
5g.13735257C>ACA359223415DNAH5c.11635G>T (p.Val3879Phe)
c.11590G>T (p.Val3864Phe)
c.11743G>T (p.Val3915Phe)
c.10648G>T (p.Val3550Phe)
c.*69G>T (n.*69G>T)
c.6832G>T (p.Val2278Phe)
c.6385G>T (p.Val2129Phe)
c.5722G>T (p.Val1908Phe)
c.10237G>T (p.Val3413Phe)
5g.13735257C=CA1528414853DNAH5c.11635G= (p.Val3879=)
c.11590G= (p.Val3864=)
c.11743G= (p.Val3915=)
c.10648G= (p.Val3550=)
c.*69G= (n.*69G=)
c.6832G= (p.Val2278=)
c.6385G= (p.Val2129=)
c.5722G= (p.Val1908=)
c.10237G= (p.Val3413=)
5g.13735257C>GCA3201886DNAH5c.11635G>C (p.Val3879Leu)
c.11590G>C (p.Val3864Leu)
c.11743G>C (p.Val3915Leu)
c.10648G>C (p.Val3550Leu)
c.*69G>C (n.*69G>C)
c.6832G>C (p.Val2278Leu)
c.6385G>C (p.Val2129Leu)
c.5722G>C (p.Val1908Leu)
c.10237G>C (p.Val3413Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735257C>TCA359223416DNAH5c.11635G>A (p.Val3879Ile)
c.11590G>A (p.Val3864Ile)
c.11743G>A (p.Val3915Ile)
c.10648G>A (p.Val3550Ile)
c.*69G>A (n.*69G>A)
c.6832G>A (p.Val2278Ile)
c.6385G>A (p.Val2129Ile)
c.5722G>A (p.Val1908Ile)
c.10237G>A (p.Val3413Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.13735258C>ACA359223417DNAH5c.11634G>T (p.Glu3878Asp)
c.11589G>T (p.Glu3863Asp)
c.11742G>T (p.Glu3914Asp)
c.10647G>T (p.Glu3549Asp)
c.*68G>T (n.*68G>T)
c.6831G>T (p.Glu2277Asp)
c.6384G>T (p.Glu2128Asp)
c.5721G>T (p.Glu1907Asp)
c.10236G>T (p.Glu3412Asp)
5g.13735258C>GCA359223418DNAH5c.11634G>C (p.Glu3878Asp)
c.11589G>C (p.Glu3863Asp)
c.11742G>C (p.Glu3914Asp)
c.10647G>C (p.Glu3549Asp)
c.*68G>C (n.*68G>C)
c.6831G>C (p.Glu2277Asp)
c.6384G>C (p.Glu2128Asp)
c.5721G>C (p.Glu1907Asp)
c.10236G>C (p.Glu3412Asp)
5g.13735258C>TCA443260047DNAH5c.11634G>A (p.Glu3878=)
c.11589G>A (p.Glu3863=)
c.11742G>A (p.Glu3914=)
c.10647G>A (p.Glu3549=)
c.*68G>A (n.*68G>A)
c.6831G>A (p.Glu2277=)
c.6384G>A (p.Glu2128=)
c.5721G>A (p.Glu1907=)
c.10236G>A (p.Glu3412=)
 ClinVar dbSNP
5g.13735259T>ACA359223419DNAH5c.11633A>T (p.Glu3878Val)
c.11588A>T (p.Glu3863Val)
c.11741A>T (p.Glu3914Val)
c.10646A>T (p.Glu3549Val)
c.*67A>T (n.*67A>T)
c.6830A>T (p.Glu2277Val)
c.6383A>T (p.Glu2128Val)
c.5720A>T (p.Glu1907Val)
c.10235A>T (p.Glu3412Val)
5g.13735259T>CCA359223420DNAH5c.11633A>G (p.Glu3878Gly)
c.11588A>G (p.Glu3863Gly)
c.11741A>G (p.Glu3914Gly)
c.10646A>G (p.Glu3549Gly)
c.*67A>G (n.*67A>G)
c.6830A>G (p.Glu2277Gly)
c.6383A>G (p.Glu2128Gly)
c.5720A>G (p.Glu1907Gly)
c.10235A>G (p.Glu3412Gly)
5g.13735259T>GCA359223421DNAH5c.11633A>C (p.Glu3878Ala)
c.11588A>C (p.Glu3863Ala)
c.11741A>C (p.Glu3914Ala)
c.10646A>C (p.Glu3549Ala)
c.*67A>C (n.*67A>C)
c.6830A>C (p.Glu2277Ala)
c.6383A>C (p.Glu2128Ala)
c.5720A>C (p.Glu1907Ala)
c.10235A>C (p.Glu3412Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.13735259T=CA1528414854DNAH5c.11633A= (p.Glu3878=)
c.11588A= (p.Glu3863=)
c.11741A= (p.Glu3914=)
c.10646A= (p.Glu3549=)
c.*67A= (n.*67A=)
c.6830A= (p.Glu2277=)
c.6383A= (p.Glu2128=)
c.5720A= (p.Glu1907=)
c.10235A= (p.Glu3412=)
5g.13735260C>ACA359223422DNAH5c.11632G>T (p.Glu3878Ter)
c.11587G>T (p.Glu3863Ter)
c.11740G>T (p.Glu3914Ter)
c.10645G>T (p.Glu3549Ter)
c.*66G>T (n.*66G>T)
c.6829G>T (p.Glu2277Ter)
c.6382G>T (p.Glu2128Ter)
c.5719G>T (p.Glu1907Ter)
c.10234G>T (p.Glu3412Ter)
5g.13735260C=CA1528414855DNAH5c.11632G= (p.Glu3878=)
c.11587G= (p.Glu3863=)
c.11740G= (p.Glu3914=)
c.10645G= (p.Glu3549=)
c.*66G= (n.*66G=)
c.6829G= (p.Glu2277=)
c.6382G= (p.Glu2128=)
c.5719G= (p.Glu1907=)
c.10234G= (p.Glu3412=)
5g.13735260C>GCA359223423DNAH5c.11632G>C (p.Glu3878Gln)
c.11587G>C (p.Glu3863Gln)
c.11740G>C (p.Glu3914Gln)
c.10645G>C (p.Glu3549Gln)
c.*66G>C (n.*66G>C)
c.6829G>C (p.Glu2277Gln)
c.6382G>C (p.Glu2128Gln)
c.5719G>C (p.Glu1907Gln)
c.10234G>C (p.Glu3412Gln)
 gnomAD v4
5g.13735260C>TCA3201887DNAH5c.11632G>A (p.Glu3878Lys)
c.11587G>A (p.Glu3863Lys)
c.11740G>A (p.Glu3914Lys)
c.10645G>A (p.Glu3549Lys)
c.*66G>A (n.*66G>A)
c.6829G>A (p.Glu2277Lys)
c.6382G>A (p.Glu2128Lys)
c.5719G>A (p.Glu1907Lys)
c.10234G>A (p.Glu3412Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735261G>ACA3201888DNAH5c.11631C>T (p.Tyr3877=)
c.11586C>T (p.Tyr3862=)
c.11739C>T (p.Tyr3913=)
c.10644C>T (p.Tyr3548=)
c.*65C>T (n.*65C>T)
c.6828C>T (p.Tyr2276=)
c.6381C>T (p.Tyr2127=)
c.5718C>T (p.Tyr1906=)
c.10233C>T (p.Tyr3411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735261G>CCA359223424DNAH5c.11631C>G (p.Tyr3877Ter)
c.11586C>G (p.Tyr3862Ter)
c.11739C>G (p.Tyr3913Ter)
c.10644C>G (p.Tyr3548Ter)
c.*65C>G (n.*65C>G)
c.6828C>G (p.Tyr2276Ter)
c.6381C>G (p.Tyr2127Ter)
c.5718C>G (p.Tyr1906Ter)
c.10233C>G (p.Tyr3411Ter)
5g.13735261G=CA1528414856DNAH5c.11631C= (p.Tyr3877=)
c.11586C= (p.Tyr3862=)
c.11739C= (p.Tyr3913=)
c.10644C= (p.Tyr3548=)
c.*65C= (n.*65C=)
c.6828C= (p.Tyr2276=)
c.6381C= (p.Tyr2127=)
c.5718C= (p.Tyr1906=)
c.10233C= (p.Tyr3411=)
5g.13735261G>TCA359223425DNAH5c.11631C>A (p.Tyr3877Ter)
c.11586C>A (p.Tyr3862Ter)
c.11739C>A (p.Tyr3913Ter)
c.10644C>A (p.Tyr3548Ter)
c.*65C>A (n.*65C>A)
c.6828C>A (p.Tyr2276Ter)
c.6381C>A (p.Tyr2127Ter)
c.5718C>A (p.Tyr1906Ter)
c.10233C>A (p.Tyr3411Ter)
5g.13735262T>ACA359223426DNAH5c.11630A>T (p.Tyr3877Phe)
c.11585A>T (p.Tyr3862Phe)
c.11738A>T (p.Tyr3913Phe)
c.10643A>T (p.Tyr3548Phe)
c.*64A>T (n.*64A>T)
c.6827A>T (p.Tyr2276Phe)
c.6380A>T (p.Tyr2127Phe)
c.5717A>T (p.Tyr1906Phe)
c.10232A>T (p.Tyr3411Phe)
5g.13735262T>CCA359223427DNAH5c.11630A>G (p.Tyr3877Cys)
c.11585A>G (p.Tyr3862Cys)
c.11738A>G (p.Tyr3913Cys)
c.10643A>G (p.Tyr3548Cys)
c.*64A>G (n.*64A>G)
c.6827A>G (p.Tyr2276Cys)
c.6380A>G (p.Tyr2127Cys)
c.5717A>G (p.Tyr1906Cys)
c.10232A>G (p.Tyr3411Cys)
 COSMIC
5g.13735262T>GCA359223428DNAH5c.11630A>C (p.Tyr3877Ser)
c.11585A>C (p.Tyr3862Ser)
c.11738A>C (p.Tyr3913Ser)
c.10643A>C (p.Tyr3548Ser)
c.*64A>C (n.*64A>C)
c.6827A>C (p.Tyr2276Ser)
c.6380A>C (p.Tyr2127Ser)
c.5717A>C (p.Tyr1906Ser)
c.10232A>C (p.Tyr3411Ser)
5g.13735263A>CCA359223431DNAH5c.11629T>G (p.Tyr3877Asp)
c.11584T>G (p.Tyr3862Asp)
c.11737T>G (p.Tyr3913Asp)
c.10642T>G (p.Tyr3548Asp)
c.*63T>G (n.*63T>G)
c.6826T>G (p.Tyr2276Asp)
c.6379T>G (p.Tyr2127Asp)
c.5716T>G (p.Tyr1906Asp)
c.10231T>G (p.Tyr3411Asp)
5g.13735263A>GCA359223429DNAH5c.11629T>C (p.Tyr3877His)
c.11584T>C (p.Tyr3862His)
c.11737T>C (p.Tyr3913His)
c.10642T>C (p.Tyr3548His)
c.*63T>C (n.*63T>C)
c.6826T>C (p.Tyr2276His)
c.6379T>C (p.Tyr2127His)
c.5716T>C (p.Tyr1906His)
c.10231T>C (p.Tyr3411His)
5g.13735263A>TCA359223430DNAH5c.11629T>A (p.Tyr3877Asn)
c.11584T>A (p.Tyr3862Asn)
c.11737T>A (p.Tyr3913Asn)
c.10642T>A (p.Tyr3548Asn)
c.*63T>A (n.*63T>A)
c.6826T>A (p.Tyr2276Asn)
c.6379T>A (p.Tyr2127Asn)
c.5716T>A (p.Tyr1906Asn)
c.10231T>A (p.Tyr3411Asn)
5g.13735264G>ACA443260049DNAH5c.11628C>T (p.Thr3876=)
c.11583C>T (p.Thr3861=)
c.11736C>T (p.Thr3912=)
c.10641C>T (p.Thr3547=)
c.*62C>T (n.*62C>T)
c.6825C>T (p.Thr2275=)
c.6378C>T (p.Thr2126=)
c.5715C>T (p.Thr1905=)
c.10230C>T (p.Thr3410=)
5g.13735264G>CCA443260050DNAH5c.11628C>G (p.Thr3876=)
c.11583C>G (p.Thr3861=)
c.11736C>G (p.Thr3912=)
c.10641C>G (p.Thr3547=)
c.*62C>G (n.*62C>G)
c.6825C>G (p.Thr2275=)
c.6378C>G (p.Thr2126=)
c.5715C>G (p.Thr1905=)
c.10230C>G (p.Thr3410=)
5g.13735264G>TCA443260051DNAH5c.11628C>A (p.Thr3876=)
c.11583C>A (p.Thr3861=)
c.11736C>A (p.Thr3912=)
c.10641C>A (p.Thr3547=)
c.*62C>A (n.*62C>A)
c.6825C>A (p.Thr2275=)
c.6378C>A (p.Thr2126=)
c.5715C>A (p.Thr1905=)
c.10230C>A (p.Thr3410=)
5g.13735265G>ACA359223432DNAH5c.11627C>T (p.Thr3876Ile)
c.11582C>T (p.Thr3861Ile)
c.11735C>T (p.Thr3912Ile)
c.10640C>T (p.Thr3547Ile)
c.*61C>T (n.*61C>T)
c.6824C>T (p.Thr2275Ile)
c.6377C>T (p.Thr2126Ile)
c.5714C>T (p.Thr1905Ile)
c.10229C>T (p.Thr3410Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735265G>CCA359223433DNAH5c.11627C>G (p.Thr3876Ser)
c.11582C>G (p.Thr3861Ser)
c.11735C>G (p.Thr3912Ser)
c.10640C>G (p.Thr3547Ser)
c.*61C>G (n.*61C>G)
c.6824C>G (p.Thr2275Ser)
c.6377C>G (p.Thr2126Ser)
c.5714C>G (p.Thr1905Ser)
c.10229C>G (p.Thr3410Ser)
5g.13735265G=CA1528414857DNAH5c.11627C= (p.Thr3876=)
c.11582C= (p.Thr3861=)
c.11735C= (p.Thr3912=)
c.10640C= (p.Thr3547=)
c.*61C= (n.*61C=)
c.6824C= (p.Thr2275=)
c.6377C= (p.Thr2126=)
c.5714C= (p.Thr1905=)
c.10229C= (p.Thr3410=)
5g.13735265G>TCA359223434DNAH5c.11627C>A (p.Thr3876Asn)
c.11582C>A (p.Thr3861Asn)
c.11735C>A (p.Thr3912Asn)
c.10640C>A (p.Thr3547Asn)
c.*61C>A (n.*61C>A)
c.6824C>A (p.Thr2275Asn)
c.6377C>A (p.Thr2126Asn)
c.5714C>A (p.Thr1905Asn)
c.10229C>A (p.Thr3410Asn)
5g.13735266T>ACA359223435DNAH5c.11626A>T (p.Thr3876Ser)
c.11581A>T (p.Thr3861Ser)
c.11734A>T (p.Thr3912Ser)
c.10639A>T (p.Thr3547Ser)
c.*60A>T (n.*60A>T)
c.6823A>T (p.Thr2275Ser)
c.6376A>T (p.Thr2126Ser)
c.5713A>T (p.Thr1905Ser)
c.10228A>T (p.Thr3410Ser)
 dbSNP
5g.13735266T>CCA359223436DNAH5c.11626A>G (p.Thr3876Ala)
c.11581A>G (p.Thr3861Ala)
c.11734A>G (p.Thr3912Ala)
c.10639A>G (p.Thr3547Ala)
c.*60A>G (n.*60A>G)
c.6823A>G (p.Thr2275Ala)
c.6376A>G (p.Thr2126Ala)
c.5713A>G (p.Thr1905Ala)
c.10228A>G (p.Thr3410Ala)
5g.13735266T>GCA359223437DNAH5c.11626A>C (p.Thr3876Pro)
c.11581A>C (p.Thr3861Pro)
c.11734A>C (p.Thr3912Pro)
c.10639A>C (p.Thr3547Pro)
c.*60A>C (n.*60A>C)
c.6823A>C (p.Thr2275Pro)
c.6376A>C (p.Thr2126Pro)
c.5713A>C (p.Thr1905Pro)
c.10228A>C (p.Thr3410Pro)
 COSMIC
5g.13735266T=CA1528414858DNAH5c.11626A= (p.Thr3876=)
c.11581A= (p.Thr3861=)
c.11734A= (p.Thr3912=)
c.10639A= (p.Thr3547=)
c.*60A= (n.*60A=)
c.6823A= (p.Thr2275=)
c.6376A= (p.Thr2126=)
c.5713A= (p.Thr1905=)
c.10228A= (p.Thr3410=)
5g.13735267C>ACA3201889DNAH5c.11625G>T (p.Met3875Ile)
c.11580G>T (p.Met3860Ile)
c.11733G>T (p.Met3911Ile)
c.10638G>T (p.Met3546Ile)
c.*59G>T (n.*59G>T)
c.6822G>T (p.Met2274Ile)
c.6375G>T (p.Met2125Ile)
c.5712G>T (p.Met1904Ile)
c.10227G>T (p.Met3409Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735267C=CA1528414859DNAH5c.11625G= (p.Met3875=)
c.11580G= (p.Met3860=)
c.11733G= (p.Met3911=)
c.10638G= (p.Met3546=)
c.*59G= (n.*59G=)
c.6822G= (p.Met2274=)
c.6375G= (p.Met2125=)
c.5712G= (p.Met1904=)
c.10227G= (p.Met3409=)
5g.13735267C>GCA359223438DNAH5c.11625G>C (p.Met3875Ile)
c.11580G>C (p.Met3860Ile)
c.11733G>C (p.Met3911Ile)
c.10638G>C (p.Met3546Ile)
c.*59G>C (n.*59G>C)
c.6822G>C (p.Met2274Ile)
c.6375G>C (p.Met2125Ile)
c.5712G>C (p.Met1904Ile)
c.10227G>C (p.Met3409Ile)
5g.13735267C>TCA113927004DNAH5c.11625G>A (p.Met3875Ile)
c.11580G>A (p.Met3860Ile)
c.11733G>A (p.Met3911Ile)
c.10638G>A (p.Met3546Ile)
c.*59G>A (n.*59G>A)
c.6822G>A (p.Met2274Ile)
c.6375G>A (p.Met2125Ile)
c.5712G>A (p.Met1904Ile)
c.10227G>A (p.Met3409Ile)
 dbSNP
5g.13735268A>CCA359223439DNAH5c.11624T>G (p.Met3875Arg)
c.11579T>G (p.Met3860Arg)
c.11732T>G (p.Met3911Arg)
c.10637T>G (p.Met3546Arg)
c.*58T>G (n.*58T>G)
c.6821T>G (p.Met2274Arg)
c.6374T>G (p.Met2125Arg)
c.5711T>G (p.Met1904Arg)
c.10226T>G (p.Met3409Arg)
5g.13735268A>GCA359223440DNAH5c.11624T>C (p.Met3875Thr)
c.11579T>C (p.Met3860Thr)
c.11732T>C (p.Met3911Thr)
c.10637T>C (p.Met3546Thr)
c.*58T>C (n.*58T>C)
c.6821T>C (p.Met2274Thr)
c.6374T>C (p.Met2125Thr)
c.5711T>C (p.Met1904Thr)
c.10226T>C (p.Met3409Thr)
 gnomAD v4
5g.13735268A>TCA359223441DNAH5c.11624T>A (p.Met3875Lys)
c.11579T>A (p.Met3860Lys)
c.11732T>A (p.Met3911Lys)
c.10637T>A (p.Met3546Lys)
c.*58T>A (n.*58T>A)
c.6821T>A (p.Met2274Lys)
c.6374T>A (p.Met2125Lys)
c.5711T>A (p.Met1904Lys)
c.10226T>A (p.Met3409Lys)
5g.13735269T>ACA113927006DNAH5c.11623A>T (p.Met3875Leu)
c.11578A>T (p.Met3860Leu)
c.11731A>T (p.Met3911Leu)
c.10636A>T (p.Met3546Leu)
c.*57A>T (n.*57A>T)
c.6820A>T (p.Met2274Leu)
c.6373A>T (p.Met2125Leu)
c.5710A>T (p.Met1904Leu)
c.10225A>T (p.Met3409Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735269T>CCA359223443DNAH5c.11623A>G (p.Met3875Val)
c.11578A>G (p.Met3860Val)
c.11731A>G (p.Met3911Val)
c.10636A>G (p.Met3546Val)
c.*57A>G (n.*57A>G)
c.6820A>G (p.Met2274Val)
c.6373A>G (p.Met2125Val)
c.5710A>G (p.Met1904Val)
c.10225A>G (p.Met3409Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.13735269T>GCA359223442DNAH5c.11623A>C (p.Met3875Leu)
c.11578A>C (p.Met3860Leu)
c.11731A>C (p.Met3911Leu)
c.10636A>C (p.Met3546Leu)
c.*57A>C (n.*57A>C)
c.6820A>C (p.Met2274Leu)
c.6373A>C (p.Met2125Leu)
c.5710A>C (p.Met1904Leu)
c.10225A>C (p.Met3409Leu)
5g.13735269T=CA1528414860DNAH5c.11623A= (p.Met3875=)
c.11578A= (p.Met3860=)
c.11731A= (p.Met3911=)
c.10636A= (p.Met3546=)
c.*57A= (n.*57A=)
c.6820A= (p.Met2274=)
c.6373A= (p.Met2125=)
c.5710A= (p.Met1904=)
c.10225A= (p.Met3409=)
5g.13735270G>ACA443260058DNAH5c.11622C>T (p.His3874=)
c.11577C>T (p.His3859=)
c.11730C>T (p.His3910=)
c.10635C>T (p.His3545=)
c.*56C>T (n.*56C>T)
c.6819C>T (p.His2273=)
c.6372C>T (p.His2124=)
c.5709C>T (p.His1903=)
c.10224C>T (p.His3408=)
 ClinVar dbSNP gnomAD v4
5g.13735270G>CCA359223445DNAH5c.11622C>G (p.His3874Gln)
c.11577C>G (p.His3859Gln)
c.11730C>G (p.His3910Gln)
c.10635C>G (p.His3545Gln)
c.*56C>G (n.*56C>G)
c.6819C>G (p.His2273Gln)
c.6372C>G (p.His2124Gln)
c.5709C>G (p.His1903Gln)
c.10224C>G (p.His3408Gln)
5g.13735270G>TCA359223444DNAH5c.11622C>A (p.His3874Gln)
c.11577C>A (p.His3859Gln)
c.11730C>A (p.His3910Gln)
c.10635C>A (p.His3545Gln)
c.*56C>A (n.*56C>A)
c.6819C>A (p.His2273Gln)
c.6372C>A (p.His2124Gln)
c.5709C>A (p.His1903Gln)
c.10224C>A (p.His3408Gln)
5g.13735271T>ACA359223447DNAH5c.11621A>T (p.His3874Leu)
c.11576A>T (p.His3859Leu)
c.11729A>T (p.His3910Leu)
c.10634A>T (p.His3545Leu)
c.*55A>T (n.*55A>T)
c.6818A>T (p.His2273Leu)
c.6371A>T (p.His2124Leu)
c.5708A>T (p.His1903Leu)
c.10223A>T (p.His3408Leu)
5g.13735271T>CCA359223448DNAH5c.11621A>G (p.His3874Arg)
c.11576A>G (p.His3859Arg)
c.11729A>G (p.His3910Arg)
c.10634A>G (p.His3545Arg)
c.*55A>G (n.*55A>G)
c.6818A>G (p.His2273Arg)
c.6371A>G (p.His2124Arg)
c.5708A>G (p.His1903Arg)
c.10223A>G (p.His3408Arg)
5g.13735271T>GCA359223452DNAH5c.11621A>C (p.His3874Pro)
c.11576A>C (p.His3859Pro)
c.11729A>C (p.His3910Pro)
c.10634A>C (p.His3545Pro)
c.*55A>C (n.*55A>C)
c.6818A>C (p.His2273Pro)
c.6371A>C (p.His2124Pro)
c.5708A>C (p.His1903Pro)
c.10223A>C (p.His3408Pro)
5g.13735272G>ACA359223454DNAH5c.11620C>T (p.His3874Tyr)
c.11575C>T (p.His3859Tyr)
c.11728C>T (p.His3910Tyr)
c.10633C>T (p.His3545Tyr)
c.*54C>T (n.*54C>T)
c.6817C>T (p.His2273Tyr)
c.6370C>T (p.His2124Tyr)
c.5707C>T (p.His1903Tyr)
c.10222C>T (p.His3408Tyr)
5g.13735272G>CCA359223459DNAH5c.11620C>G (p.His3874Asp)
c.11575C>G (p.His3859Asp)
c.11728C>G (p.His3910Asp)
c.10633C>G (p.His3545Asp)
c.*54C>G (n.*54C>G)
c.6817C>G (p.His2273Asp)
c.6370C>G (p.His2124Asp)
c.5707C>G (p.His1903Asp)
c.10222C>G (p.His3408Asp)
 ClinVar gnomAD v4
5g.13735272G>TCA359223461DNAH5c.11620C>A (p.His3874Asn)
c.11575C>A (p.His3859Asn)
c.11728C>A (p.His3910Asn)
c.10633C>A (p.His3545Asn)
c.*54C>A (n.*54C>A)
c.6817C>A (p.His2273Asn)
c.6370C>A (p.His2124Asn)
c.5707C>A (p.His1903Asn)
c.10222C>A (p.His3408Asn)
5g.13735273C>ACA359223464DNAH5c.11619G>T (p.Glu3873Asp)
c.11574G>T (p.Glu3858Asp)
c.11727G>T (p.Glu3909Asp)
c.10632G>T (p.Glu3544Asp)
c.*53G>T (n.*53G>T)
c.6816G>T (p.Glu2272Asp)
c.6369G>T (p.Glu2123Asp)
c.5706G>T (p.Glu1902Asp)
c.10221G>T (p.Glu3407Asp)
5g.13735273C=CA1528414861DNAH5c.11619G= (p.Glu3873=)
c.11574G= (p.Glu3858=)
c.11727G= (p.Glu3909=)
c.10632G= (p.Glu3544=)
c.*53G= (n.*53G=)
c.6816G= (p.Glu2272=)
c.6369G= (p.Glu2123=)
c.5706G= (p.Glu1902=)
c.10221G= (p.Glu3407=)
5g.13735273C>GCA359223467DNAH5c.11619G>C (p.Glu3873Asp)
c.11574G>C (p.Glu3858Asp)
c.11727G>C (p.Glu3909Asp)
c.10632G>C (p.Glu3544Asp)
c.*53G>C (n.*53G>C)
c.6816G>C (p.Glu2272Asp)
c.6369G>C (p.Glu2123Asp)
c.5706G>C (p.Glu1902Asp)
c.10221G>C (p.Glu3407Asp)
5g.13735273C>TCA443260062DNAH5c.11619G>A (p.Glu3873=)
c.11574G>A (p.Glu3858=)
c.11727G>A (p.Glu3909=)
c.10632G>A (p.Glu3544=)
c.*53G>A (n.*53G>A)
c.6816G>A (p.Glu2272=)
c.6369G>A (p.Glu2123=)
c.5706G>A (p.Glu1902=)
c.10221G>A (p.Glu3407=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735274T>ACA359223469DNAH5c.11618A>T (p.Glu3873Val)
c.11573A>T (p.Glu3858Val)
c.11726A>T (p.Glu3909Val)
c.10631A>T (p.Glu3544Val)
c.*52A>T (n.*52A>T)
c.6815A>T (p.Glu2272Val)
c.6368A>T (p.Glu2123Val)
c.5705A>T (p.Glu1902Val)
c.10220A>T (p.Glu3407Val)
5g.13735274T>CCA359223471DNAH5c.11618A>G (p.Glu3873Gly)
c.11573A>G (p.Glu3858Gly)
c.11726A>G (p.Glu3909Gly)
c.10631A>G (p.Glu3544Gly)
c.*52A>G (n.*52A>G)
c.6815A>G (p.Glu2272Gly)
c.6368A>G (p.Glu2123Gly)
c.5705A>G (p.Glu1902Gly)
c.10220A>G (p.Glu3407Gly)
 gnomAD v4
5g.13735274T>GCA359223473DNAH5c.11618A>C (p.Glu3873Ala)
c.11573A>C (p.Glu3858Ala)
c.11726A>C (p.Glu3909Ala)
c.10631A>C (p.Glu3544Ala)
c.*52A>C (n.*52A>C)
c.6815A>C (p.Glu2272Ala)
c.6368A>C (p.Glu2123Ala)
c.5705A>C (p.Glu1902Ala)
c.10220A>C (p.Glu3407Ala)
5g.13735275C>ACA359223476DNAH5c.11617G>T (p.Glu3873Ter)
c.11572G>T (p.Glu3858Ter)
c.11725G>T (p.Glu3909Ter)
c.10630G>T (p.Glu3544Ter)
c.*51G>T (n.*51G>T)
c.6814G>T (p.Glu2272Ter)
c.6367G>T (p.Glu2123Ter)
c.5704G>T (p.Glu1902Ter)
c.10219G>T (p.Glu3407Ter)
5g.13735275C=CA1528414862DNAH5c.11617G= (p.Glu3873=)
c.11572G= (p.Glu3858=)
c.11725G= (p.Glu3909=)
c.10630G= (p.Glu3544=)
c.*51G= (n.*51G=)
c.6814G= (p.Glu2272=)
c.6367G= (p.Glu2123=)
c.5704G= (p.Glu1902=)
c.10219G= (p.Glu3407=)
5g.13735275C>GCA113927009DNAH5c.11617G>C (p.Glu3873Gln)
c.11572G>C (p.Glu3858Gln)
c.11725G>C (p.Glu3909Gln)
c.10630G>C (p.Glu3544Gln)
c.*51G>C (n.*51G>C)
c.6814G>C (p.Glu2272Gln)
c.6367G>C (p.Glu2123Gln)
c.5704G>C (p.Glu1902Gln)
c.10219G>C (p.Glu3407Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735275C>TCA3201890DNAH5c.11617G>A (p.Glu3873Lys)
c.11572G>A (p.Glu3858Lys)
c.11725G>A (p.Glu3909Lys)
c.10630G>A (p.Glu3544Lys)
c.*51G>A (n.*51G>A)
c.6814G>A (p.Glu2272Lys)
c.6367G>A (p.Glu2123Lys)
c.5704G>A (p.Glu1902Lys)
c.10219G>A (p.Glu3407Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735275_13735278delinsCGATCA1528414863DNAH5c.11614_11617delinsATCG (p.Ile3872=)
c.11569_11572delinsATCG (p.Ile3857=)
c.11722_11725delinsATCG (p.Ile3908=)
c.10627_10630delinsATCG (p.Ile3543=)
c.*48_*51delinsATCG (n.*48_*51delinsATCG)
c.6811_6814delinsATCG (p.Ile2271=)
c.6364_6367delinsATCG (p.Ile2122=)
c.5701_5704delinsATCG (p.Ile1901=)
c.10216_10219delinsATCG (p.Ile3406=)
5g.13735276G>ACA3201892DNAH5c.11616C>T (p.Ile3872=)
c.11571C>T (p.Ile3857=)
c.11724C>T (p.Ile3908=)
c.10629C>T (p.Ile3543=)
c.*50C>T (n.*50C>T)
c.6813C>T (p.Ile2271=)
c.6366C>T (p.Ile2122=)
c.5703C>T (p.Ile1901=)
c.10218C>T (p.Ile3406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.13735276G>CCA3201891DNAH5c.11616C>G (p.Ile3872Met)
c.11571C>G (p.Ile3857Met)
c.11724C>G (p.Ile3908Met)
c.10629C>G (p.Ile3543Met)
c.*50C>G (n.*50C>G)
c.6813C>G (p.Ile2271Met)
c.6366C>G (p.Ile2122Met)
c.5703C>G (p.Ile1901Met)
c.10218C>G (p.Ile3406Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735276G=CA1528414864DNAH5c.11616C= (p.Ile3872=)
c.11571C= (p.Ile3857=)
c.11724C= (p.Ile3908=)
c.10629C= (p.Ile3543=)
c.*50C= (n.*50C=)
c.6813C= (p.Ile2271=)
c.6366C= (p.Ile2122=)
c.5703C= (p.Ile1901=)
c.10218C= (p.Ile3406=)
5g.13735276G>TCA3201893DNAH5c.11616C>A (p.Ile3872=)
c.11571C>A (p.Ile3857=)
c.11724C>A (p.Ile3908=)
c.10629C>A (p.Ile3543=)
c.*50C>A (n.*50C>A)
c.6813C>A (p.Ile2271=)
c.6366C>A (p.Ile2122=)
c.5703C>A (p.Ile1901=)
c.10218C>A (p.Ile3406=)
 ClinVar dbSNP ExAC gnomAD v2
5g.13735279_13735281delCA557876489DNAH5c.11614_11616del (p.Ile3872del)
c.11569_11571del (p.Ile3857del)
c.11722_11724del (p.Ile3908del)
c.10627_10629del (p.Ile3543del)
c.*48_*50del (n.*48_*50del)
c.6811_6813del (p.Ile2271del)
c.6364_6366del (p.Ile2122del)
c.5701_5703del (p.Ile1901del)
c.10216_10218del (p.Ile3406del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735277A=CA1528414865DNAH5c.11615T= (p.Ile3872=)
c.11570T= (p.Ile3857=)
c.11723T= (p.Ile3908=)
c.10628T= (p.Ile3543=)
c.*49T= (n.*49T=)
c.6812T= (p.Ile2271=)
c.6365T= (p.Ile2122=)
c.5702T= (p.Ile1901=)
c.10217T= (p.Ile3406=)
5g.13735277A>CCA359223484DNAH5c.11615T>G (p.Ile3872Ser)
c.11570T>G (p.Ile3857Ser)
c.11723T>G (p.Ile3908Ser)
c.10628T>G (p.Ile3543Ser)
c.*49T>G (n.*49T>G)
c.6812T>G (p.Ile2271Ser)
c.6365T>G (p.Ile2122Ser)
c.5702T>G (p.Ile1901Ser)
c.10217T>G (p.Ile3406Ser)
5g.13735277A>GCA3201894DNAH5c.11615T>C (p.Ile3872Thr)
c.11570T>C (p.Ile3857Thr)
c.11723T>C (p.Ile3908Thr)
c.10628T>C (p.Ile3543Thr)
c.*49T>C (n.*49T>C)
c.6812T>C (p.Ile2271Thr)
c.6365T>C (p.Ile2122Thr)
c.5702T>C (p.Ile1901Thr)
c.10217T>C (p.Ile3406Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735277A>TCA359223485DNAH5c.11615T>A (p.Ile3872Asn)
c.11570T>A (p.Ile3857Asn)
c.11723T>A (p.Ile3908Asn)
c.10628T>A (p.Ile3543Asn)
c.*49T>A (n.*49T>A)
c.6812T>A (p.Ile2271Asn)
c.6365T>A (p.Ile2122Asn)
c.5702T>A (p.Ile1901Asn)
c.10217T>A (p.Ile3406Asn)
5g.13735278T>ACA3201895DNAH5c.11614A>T (p.Ile3872Phe)
c.11569A>T (p.Ile3857Phe)
c.11722A>T (p.Ile3908Phe)
c.10627A>T (p.Ile3543Phe)
c.*48A>T (n.*48A>T)
c.6811A>T (p.Ile2271Phe)
c.6364A>T (p.Ile2122Phe)
c.5701A>T (p.Ile1901Phe)
c.10216A>T (p.Ile3406Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735278T>CCA3201896DNAH5c.11614A>G (p.Ile3872Val)
c.11569A>G (p.Ile3857Val)
c.11722A>G (p.Ile3908Val)
c.10627A>G (p.Ile3543Val)
c.*48A>G (n.*48A>G)
c.6811A>G (p.Ile2271Val)
c.6364A>G (p.Ile2122Val)
c.5701A>G (p.Ile1901Val)
c.10216A>G (p.Ile3406Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.13735278T>GCA359223488DNAH5c.11614A>C (p.Ile3872Leu)
c.11569A>C (p.Ile3857Leu)
c.11722A>C (p.Ile3908Leu)
c.10627A>C (p.Ile3543Leu)
c.*48A>C (n.*48A>C)
c.6811A>C (p.Ile2271Leu)
c.6364A>C (p.Ile2122Leu)
c.5701A>C (p.Ile1901Leu)
c.10216A>C (p.Ile3406Leu)
5g.13735278T=CA1528414866DNAH5c.11614A= (p.Ile3872=)
c.11569A= (p.Ile3857=)
c.11722A= (p.Ile3908=)
c.10627A= (p.Ile3543=)
c.*48A= (n.*48A=)
c.6811A= (p.Ile2271=)
c.6364A= (p.Ile2122=)
c.5701A= (p.Ile1901=)
c.10216A= (p.Ile3406=)
5g.13735278_13735279insTACAAGCAAGAGCA2740617119DNAH5c.11613_11614insCTCTTGCTTGTA (p.Ile3871_Ile3872insLeuLeuLeuVal)
c.11568_11569insCTCTTGCTTGTA (p.Ile3856_Ile3857insLeuLeuLeuVal)
c.11721_11722insCTCTTGCTTGTA (p.Ile3907_Ile3908insLeuLeuLeuVal)
c.10626_10627insCTCTTGCTTGTA (p.Ile3542_Ile3543insLeuLeuLeuVal)
c.*47_*48insCTCTTGCTTGTA (n.*47_*48insCTCTTGCTTGTA)
c.6810_6811insCTCTTGCTTGTA (p.Ile2270_Ile2271insLeuLeuLeuVal)
c.6363_6364insCTCTTGCTTGTA (p.Ile2121_Ile2122insLeuLeuLeuVal)
c.5700_5701insCTCTTGCTTGTA (p.Ile1900_Ile1901insLeuLeuLeuVal)
c.10215_10216insCTCTTGCTTGTA (p.Ile3405_Ile3406insLeuLeuLeuVal)
5g.13735279G>ACA443260072DNAH5c.11613C>T (p.Ile3871=)
c.11568C>T (p.Ile3856=)
c.11721C>T (p.Ile3907=)
c.10626C>T (p.Ile3542=)
c.*47C>T (n.*47C>T)
c.6810C>T (p.Ile2270=)
c.6363C>T (p.Ile2121=)
c.5700C>T (p.Ile1900=)
c.10215C>T (p.Ile3405=)
 dbSNP gnomAD v2 gnomAD v4
5g.13735279G>CCA359223493DNAH5c.11613C>G (p.Ile3871Met)
c.11568C>G (p.Ile3856Met)
c.11721C>G (p.Ile3907Met)
c.10626C>G (p.Ile3542Met)
c.*47C>G (n.*47C>G)
c.6810C>G (p.Ile2270Met)
c.6363C>G (p.Ile2121Met)
c.5700C>G (p.Ile1900Met)
c.10215C>G (p.Ile3405Met)
5g.13735279G=CA1528414867DNAH5c.11613C= (p.Ile3871=)
c.11568C= (p.Ile3856=)
c.11721C= (p.Ile3907=)
c.10626C= (p.Ile3542=)
c.*47C= (n.*47C=)
c.6810C= (p.Ile2270=)
c.6363C= (p.Ile2121=)
c.5700C= (p.Ile1900=)
c.10215C= (p.Ile3405=)
5g.13735279G>TCA443260073DNAH5c.11613C>A (p.Ile3871=)
c.11568C>A (p.Ile3856=)
c.11721C>A (p.Ile3907=)
c.10626C>A (p.Ile3542=)
c.*47C>A (n.*47C>A)
c.6810C>A (p.Ile2270=)
c.6363C>A (p.Ile2121=)
c.5700C>A (p.Ile1900=)
c.10215C>A (p.Ile3405=)
 dbSNP gnomAD v2 gnomAD v4
5g.13735280A>CCA359223496DNAH5c.11612T>G (p.Ile3871Ser)
c.11567T>G (p.Ile3856Ser)
c.11720T>G (p.Ile3907Ser)
c.10625T>G (p.Ile3542Ser)
c.*46T>G (n.*46T>G)
c.6809T>G (p.Ile2270Ser)
c.6362T>G (p.Ile2121Ser)
c.5699T>G (p.Ile1900Ser)
c.10214T>G (p.Ile3405Ser)
5g.13735280A>GCA359223499DNAH5c.11612T>C (p.Ile3871Thr)
c.11567T>C (p.Ile3856Thr)
c.11720T>C (p.Ile3907Thr)
c.10625T>C (p.Ile3542Thr)
c.*46T>C (n.*46T>C)
c.6809T>C (p.Ile2270Thr)
c.6362T>C (p.Ile2121Thr)
c.5699T>C (p.Ile1900Thr)
c.10214T>C (p.Ile3405Thr)
 gnomAD v4
5g.13735280A>TCA359223501DNAH5c.11612T>A (p.Ile3871Asn)
c.11567T>A (p.Ile3856Asn)
c.11720T>A (p.Ile3907Asn)
c.10625T>A (p.Ile3542Asn)
c.*46T>A (n.*46T>A)
c.6809T>A (p.Ile2270Asn)
c.6362T>A (p.Ile2121Asn)
c.5699T>A (p.Ile1900Asn)
c.10214T>A (p.Ile3405Asn)
5g.13735282_13735283delCA2580613515DNAH5c.11611_11612del (p.Ile3871HisfsTer10)
c.11566_11567del (p.Ile3856HisfsTer10)
c.11719_11720del (p.Ile3907HisfsTer10)
c.10624_10625del (p.Ile3542HisfsTer10)
c.*45_*46del (n.*45_*46del)
c.6808_6809del (p.Ile2270HisfsTer10)
c.6361_6362del (p.Ile2121HisfsTer10)
c.5698_5699del (p.Ile1900HisfsTer10)
c.10213_10214del (p.Ile3405HisfsTer10)
 ClinVar
5g.13735281T>ACA359223507DNAH5c.11611A>T (p.Ile3871Phe)
c.11566A>T (p.Ile3856Phe)
c.11719A>T (p.Ile3907Phe)
c.10624A>T (p.Ile3542Phe)
c.*45A>T (n.*45A>T)
c.6808A>T (p.Ile2270Phe)
c.6361A>T (p.Ile2121Phe)
c.5698A>T (p.Ile1900Phe)
c.10213A>T (p.Ile3405Phe)
5g.13735281T>CCA359223505DNAH5c.11611A>G (p.Ile3871Val)
c.11566A>G (p.Ile3856Val)
c.11719A>G (p.Ile3907Val)
c.10624A>G (p.Ile3542Val)
c.*45A>G (n.*45A>G)
c.6808A>G (p.Ile2270Val)
c.6361A>G (p.Ile2121Val)
c.5698A>G (p.Ile1900Val)
c.10213A>G (p.Ile3405Val)
5g.13735281T>GCA359223503DNAH5c.11611A>C (p.Ile3871Leu)
c.11566A>C (p.Ile3856Leu)
c.11719A>C (p.Ile3907Leu)
c.10624A>C (p.Ile3542Leu)
c.*45A>C (n.*45A>C)
c.6808A>C (p.Ile2270Leu)
c.6361A>C (p.Ile2121Leu)
c.5698A>C (p.Ile1900Leu)
c.10213A>C (p.Ile3405Leu)
5g.13735282A>CCA359223509DNAH5c.11610T>G (p.Asn3870Lys)
c.11565T>G (p.Asn3855Lys)
c.11718T>G (p.Asn3906Lys)
c.10623T>G (p.Asn3541Lys)
c.*44T>G (n.*44T>G)
c.6807T>G (p.Asn2269Lys)
c.6360T>G (p.Asn2120Lys)
c.5697T>G (p.Asn1899Lys)
c.10212T>G (p.Asn3404Lys)
5g.13735282A>GCA443260076DNAH5c.11610T>C (p.Asn3870=)
c.11565T>C (p.Asn3855=)
c.11718T>C (p.Asn3906=)
c.10623T>C (p.Asn3541=)
c.*44T>C (n.*44T>C)
c.6807T>C (p.Asn2269=)
c.6360T>C (p.Asn2120=)
c.5697T>C (p.Asn1899=)
c.10212T>C (p.Asn3404=)
 ClinVar dbSNP
5g.13735282A>TCA359223511DNAH5c.11610T>A (p.Asn3870Lys)
c.11565T>A (p.Asn3855Lys)
c.11718T>A (p.Asn3906Lys)
c.10623T>A (p.Asn3541Lys)
c.*44T>A (n.*44T>A)
c.6807T>A (p.Asn2269Lys)
c.6360T>A (p.Asn2120Lys)
c.5697T>A (p.Asn1899Lys)
c.10212T>A (p.Asn3404Lys)
5g.13735283T>ACA359223513DNAH5c.11609A>T (p.Asn3870Ile)
c.11564A>T (p.Asn3855Ile)
c.11717A>T (p.Asn3906Ile)
c.10622A>T (p.Asn3541Ile)
c.*43A>T (n.*43A>T)
c.6806A>T (p.Asn2269Ile)
c.6359A>T (p.Asn2120Ile)
c.5696A>T (p.Asn1899Ile)
c.10211A>T (p.Asn3404Ile)
 gnomAD v4
5g.13735283T>CCA359223515DNAH5c.11609A>G (p.Asn3870Ser)
c.11564A>G (p.Asn3855Ser)
c.11717A>G (p.Asn3906Ser)
c.10622A>G (p.Asn3541Ser)
c.*43A>G (n.*43A>G)
c.6806A>G (p.Asn2269Ser)
c.6359A>G (p.Asn2120Ser)
c.5696A>G (p.Asn1899Ser)
c.10211A>G (p.Asn3404Ser)
5g.13735283T>GCA359223517DNAH5c.11609A>C (p.Asn3870Thr)
c.11564A>C (p.Asn3855Thr)
c.11717A>C (p.Asn3906Thr)
c.10622A>C (p.Asn3541Thr)
c.*43A>C (n.*43A>C)
c.6806A>C (p.Asn2269Thr)
c.6359A>C (p.Asn2120Thr)
c.5696A>C (p.Asn1899Thr)
c.10211A>C (p.Asn3404Thr)
5g.13735284delCA2697547022DNAH5c.11609del (p.Asn3870IlefsTer6)
c.11564del (p.Asn3855IlefsTer6)
c.11717del (p.Asn3906IlefsTer6)
c.10622del (p.Asn3541IlefsTer6)
c.*43del (n.*43del)
c.6806del (p.Asn2269IlefsTer6)
c.6359del (p.Asn2120IlefsTer6)
c.5696del (p.Asn1899IlefsTer6)
c.10211del (p.Asn3404IlefsTer6)
 ClinVar
5g.13735284T>ACA359223519DNAH5c.11608A>T (p.Asn3870Tyr)
c.11563A>T (p.Asn3855Tyr)
c.11716A>T (p.Asn3906Tyr)
c.10621A>T (p.Asn3541Tyr)
c.*42A>T (n.*42A>T)
c.6805A>T (p.Asn2269Tyr)
c.6358A>T (p.Asn2120Tyr)
c.5695A>T (p.Asn1899Tyr)
c.10210A>T (p.Asn3404Tyr)
5g.13735284T>CCA359223520DNAH5c.11608A>G (p.Asn3870Asp)
c.11563A>G (p.Asn3855Asp)
c.11716A>G (p.Asn3906Asp)
c.10621A>G (p.Asn3541Asp)
c.*42A>G (n.*42A>G)
c.6805A>G (p.Asn2269Asp)
c.6358A>G (p.Asn2120Asp)
c.5695A>G (p.Asn1899Asp)
c.10210A>G (p.Asn3404Asp)
5g.13735284T>GCA359223522DNAH5c.11608A>C (p.Asn3870His)
c.11563A>C (p.Asn3855His)
c.11716A>C (p.Asn3906His)
c.10621A>C (p.Asn3541His)
c.*42A>C (n.*42A>C)
c.6805A>C (p.Asn2269His)
c.6358A>C (p.Asn2120His)
c.5695A>C (p.Asn1899His)
c.10210A>C (p.Asn3404His)
5g.13735285A>CCA443260079DNAH5c.11607T>G (p.Ala3869=)
c.11562T>G (p.Ala3854=)
c.11715T>G (p.Ala3905=)
c.10620T>G (p.Ala3540=)
c.*41T>G (n.*41T>G)
c.6804T>G (p.Ala2268=)
c.6357T>G (p.Ala2119=)
c.5694T>G (p.Ala1898=)
c.10209T>G (p.Ala3403=)
5g.13735285A>GCA443260080DNAH5c.11607T>C (p.Ala3869=)
c.11562T>C (p.Ala3854=)
c.11715T>C (p.Ala3905=)
c.10620T>C (p.Ala3540=)
c.*41T>C (n.*41T>C)
c.6804T>C (p.Ala2268=)
c.6357T>C (p.Ala2119=)
c.5694T>C (p.Ala1898=)
c.10209T>C (p.Ala3403=)
 COSMIC
5g.13735285A>TCA443260081DNAH5c.11607T>A (p.Ala3869=)
c.11562T>A (p.Ala3854=)
c.11715T>A (p.Ala3905=)
c.10620T>A (p.Ala3540=)
c.*41T>A (n.*41T>A)
c.6804T>A (p.Ala2268=)
c.6357T>A (p.Ala2119=)
c.5694T>A (p.Ala1898=)
c.10209T>A (p.Ala3403=)
5g.13735286G>ACA359223526DNAH5c.11606C>T (p.Ala3869Val)
c.11561C>T (p.Ala3854Val)
c.11714C>T (p.Ala3905Val)
c.10619C>T (p.Ala3540Val)
c.*40C>T (n.*40C>T)
c.6803C>T (p.Ala2268Val)
c.6356C>T (p.Ala2119Val)
c.5693C>T (p.Ala1898Val)
c.10208C>T (p.Ala3403Val)
5g.13735286G>CCA359223528DNAH5c.11606C>G (p.Ala3869Gly)
c.11561C>G (p.Ala3854Gly)
c.11714C>G (p.Ala3905Gly)
c.10619C>G (p.Ala3540Gly)
c.*40C>G (n.*40C>G)
c.6803C>G (p.Ala2268Gly)
c.6356C>G (p.Ala2119Gly)
c.5693C>G (p.Ala1898Gly)
c.10208C>G (p.Ala3403Gly)
5g.13735286G>TCA359223532DNAH5c.11606C>A (p.Ala3869Asp)
c.11561C>A (p.Ala3854Asp)
c.11714C>A (p.Ala3905Asp)
c.10619C>A (p.Ala3540Asp)
c.*40C>A (n.*40C>A)
c.6803C>A (p.Ala2268Asp)
c.6356C>A (p.Ala2119Asp)
c.5693C>A (p.Ala1898Asp)
c.10208C>A (p.Ala3403Asp)
 gnomAD v4
5g.13735288_13735298delCA2673267926DNAH5c.11596_11606del (p.Lys3866Ter)
c.11551_11561del (p.Lys3851Ter)
c.11704_11714del (p.Lys3902Ter)
c.10609_10619del (p.Lys3537Ter)
c.*30_*40del (n.*30_*40del)
c.6793_6803del (p.Lys2265Ter)
c.6346_6356del (p.Lys2116Ter)
c.5683_5693del (p.Lys1895Ter)
c.10198_10208del (p.Lys3400Ter)
 gnomAD v4
5g.13735287C>ACA359223534DNAH5c.11605G>T (p.Ala3869Ser)
c.11560G>T (p.Ala3854Ser)
c.11713G>T (p.Ala3905Ser)
c.10618G>T (p.Ala3540Ser)
c.*39G>T (n.*39G>T)
c.6802G>T (p.Ala2268Ser)
c.6355G>T (p.Ala2119Ser)
c.5692G>T (p.Ala1898Ser)
c.10207G>T (p.Ala3403Ser)
5g.13735287C>GCA359223537DNAH5c.11605G>C (p.Ala3869Pro)
c.11560G>C (p.Ala3854Pro)
c.11713G>C (p.Ala3905Pro)
c.10618G>C (p.Ala3540Pro)
c.*39G>C (n.*39G>C)
c.6802G>C (p.Ala2268Pro)
c.6355G>C (p.Ala2119Pro)
c.5692G>C (p.Ala1898Pro)
c.10207G>C (p.Ala3403Pro)
5g.13735287C>TCA359223540DNAH5c.11605G>A (p.Ala3869Thr)
c.11560G>A (p.Ala3854Thr)
c.11713G>A (p.Ala3905Thr)
c.10618G>A (p.Ala3540Thr)
c.*39G>A (n.*39G>A)
c.6802G>A (p.Ala2268Thr)
c.6355G>A (p.Ala2119Thr)
c.5692G>A (p.Ala1898Thr)
c.10207G>A (p.Ala3403Thr)
5g.13735288A>CCA359223544DNAH5c.11604T>G (p.Ile3868Met)
c.11559T>G (p.Ile3853Met)
c.11712T>G (p.Ile3904Met)
c.10617T>G (p.Ile3539Met)
c.*38T>G (n.*38T>G)
c.6801T>G (p.Ile2267Met)
c.6354T>G (p.Ile2118Met)
c.5691T>G (p.Ile1897Met)
c.10206T>G (p.Ile3402Met)
5g.13735288A>GCA443260084DNAH5c.11604T>C (p.Ile3868=)
c.11559T>C (p.Ile3853=)
c.11712T>C (p.Ile3904=)
c.10617T>C (p.Ile3539=)
c.*38T>C (n.*38T>C)
c.6801T>C (p.Ile2267=)
c.6354T>C (p.Ile2118=)
c.5691T>C (p.Ile1897=)
c.10206T>C (p.Ile3402=)
5g.13735288A>TCA443260082DNAH5c.11604T>A (p.Ile3868=)
c.11559T>A (p.Ile3853=)
c.11712T>A (p.Ile3904=)
c.10617T>A (p.Ile3539=)
c.*38T>A (n.*38T>A)
c.6801T>A (p.Ile2267=)
c.6354T>A (p.Ile2118=)
c.5691T>A (p.Ile1897=)
c.10206T>A (p.Ile3402=)
5g.13735289A>CCA359223552DNAH5c.11603T>G (p.Ile3868Ser)
c.11558T>G (p.Ile3853Ser)
c.11711T>G (p.Ile3904Ser)
c.10616T>G (p.Ile3539Ser)
c.*37T>G (n.*37T>G)
c.6800T>G (p.Ile2267Ser)
c.6353T>G (p.Ile2118Ser)
c.5690T>G (p.Ile1897Ser)
c.10205T>G (p.Ile3402Ser)
5g.13735289A>GCA359223553DNAH5c.11603T>C (p.Ile3868Thr)
c.11558T>C (p.Ile3853Thr)
c.11711T>C (p.Ile3904Thr)
c.10616T>C (p.Ile3539Thr)
c.*37T>C (n.*37T>C)
c.6800T>C (p.Ile2267Thr)
c.6353T>C (p.Ile2118Thr)
c.5690T>C (p.Ile1897Thr)
c.10205T>C (p.Ile3402Thr)
 gnomAD v4
5g.13735289A>TCA359223554DNAH5c.11603T>A (p.Ile3868Asn)
c.11558T>A (p.Ile3853Asn)
c.11711T>A (p.Ile3904Asn)
c.10616T>A (p.Ile3539Asn)
c.*37T>A (n.*37T>A)
c.6800T>A (p.Ile2267Asn)
c.6353T>A (p.Ile2118Asn)
c.5690T>A (p.Ile1897Asn)
c.10205T>A (p.Ile3402Asn)
5g.13735290T>ACA359223555DNAH5c.11602A>T (p.Ile3868Phe)
c.11557A>T (p.Ile3853Phe)
c.11710A>T (p.Ile3904Phe)
c.10615A>T (p.Ile3539Phe)
c.*36A>T (n.*36A>T)
c.6799A>T (p.Ile2267Phe)
c.6352A>T (p.Ile2118Phe)
c.5689A>T (p.Ile1897Phe)
c.10204A>T (p.Ile3402Phe)
 gnomAD v4
5g.13735290T>CCA359223556DNAH5c.11602A>G (p.Ile3868Val)
c.11557A>G (p.Ile3853Val)
c.11710A>G (p.Ile3904Val)
c.10615A>G (p.Ile3539Val)
c.*36A>G (n.*36A>G)
c.6799A>G (p.Ile2267Val)
c.6352A>G (p.Ile2118Val)
c.5689A>G (p.Ile1897Val)
c.10204A>G (p.Ile3402Val)
5g.13735290T>GCA359223557DNAH5c.11602A>C (p.Ile3868Leu)
c.11557A>C (p.Ile3853Leu)
c.11710A>C (p.Ile3904Leu)
c.10615A>C (p.Ile3539Leu)
c.*36A>C (n.*36A>C)
c.6799A>C (p.Ile2267Leu)
c.6352A>C (p.Ile2118Leu)
c.5689A>C (p.Ile1897Leu)
c.10204A>C (p.Ile3402Leu)
5g.13735291C>ACA359223560DNAH5c.11601G>T (p.Arg3867Ser)
c.11556G>T (p.Arg3852Ser)
c.11709G>T (p.Arg3903Ser)
c.10614G>T (p.Arg3538Ser)
c.*35G>T (n.*35G>T)
c.6798G>T (p.Arg2266Ser)
c.6351G>T (p.Arg2117Ser)
c.5688G>T (p.Arg1896Ser)
c.10203G>T (p.Arg3401Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.13735291C=CA1528414868DNAH5c.11601G= (p.Arg3867=)
c.11556G= (p.Arg3852=)
c.11709G= (p.Arg3903=)
c.10614G= (p.Arg3538=)
c.*35G= (n.*35G=)
c.6798G= (p.Arg2266=)
c.6351G= (p.Arg2117=)
c.5688G= (p.Arg1896=)
c.10203G= (p.Arg3401=)
5g.13735291C>GCA359223563DNAH5c.11601G>C (p.Arg3867Ser)
c.11556G>C (p.Arg3852Ser)
c.11709G>C (p.Arg3903Ser)
c.10614G>C (p.Arg3538Ser)
c.*35G>C (n.*35G>C)
c.6798G>C (p.Arg2266Ser)
c.6351G>C (p.Arg2117Ser)
c.5688G>C (p.Arg1896Ser)
c.10203G>C (p.Arg3401Ser)
5g.13735291C>TCA3201897DNAH5c.11601G>A (p.Arg3867=)
c.11556G>A (p.Arg3852=)
c.11709G>A (p.Arg3903=)
c.10614G>A (p.Arg3538=)
c.*35G>A (n.*35G>A)
c.6798G>A (p.Arg2266=)
c.6351G>A (p.Arg2117=)
c.5688G>A (p.Arg1896=)
c.10203G>A (p.Arg3401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735292C>ACA359223567DNAH5c.11600G>T (p.Arg3867Met)
c.11555G>T (p.Arg3852Met)
c.11708G>T (p.Arg3903Met)
c.10613G>T (p.Arg3538Met)
c.*34G>T (n.*34G>T)
c.6797G>T (p.Arg2266Met)
c.6350G>T (p.Arg2117Met)
c.5687G>T (p.Arg1896Met)
c.10202G>T (p.Arg3401Met)
5g.13735292C>GCA359223569DNAH5c.11600G>C (p.Arg3867Thr)
c.11555G>C (p.Arg3852Thr)
c.11708G>C (p.Arg3903Thr)
c.10613G>C (p.Arg3538Thr)
c.*34G>C (n.*34G>C)
c.6797G>C (p.Arg2266Thr)
c.6350G>C (p.Arg2117Thr)
c.5687G>C (p.Arg1896Thr)
c.10202G>C (p.Arg3401Thr)
5g.13735292C>TCA359223572DNAH5c.11600G>A (p.Arg3867Lys)
c.11555G>A (p.Arg3852Lys)
c.11708G>A (p.Arg3903Lys)
c.10613G>A (p.Arg3538Lys)
c.*34G>A (n.*34G>A)
c.6797G>A (p.Arg2266Lys)
c.6350G>A (p.Arg2117Lys)
c.5687G>A (p.Arg1896Lys)
c.10202G>A (p.Arg3401Lys)
5g.13735293T>ACA359223575DNAH5c.11599A>T (p.Arg3867Trp)
c.11554A>T (p.Arg3852Trp)
c.11707A>T (p.Arg3903Trp)
c.10612A>T (p.Arg3538Trp)
c.*33A>T (n.*33A>T)
c.6796A>T (p.Arg2266Trp)
c.6349A>T (p.Arg2117Trp)
c.5686A>T (p.Arg1896Trp)
c.10201A>T (p.Arg3401Trp)
5g.13735293T>CCA359223576DNAH5c.11599A>G (p.Arg3867Gly)
c.11554A>G (p.Arg3852Gly)
c.11707A>G (p.Arg3903Gly)
c.10612A>G (p.Arg3538Gly)
c.*33A>G (n.*33A>G)
c.6796A>G (p.Arg2266Gly)
c.6349A>G (p.Arg2117Gly)
c.5686A>G (p.Arg1896Gly)
c.10201A>G (p.Arg3401Gly)
5g.13735293T>GCA443260086DNAH5c.11599A>C (p.Arg3867=)
c.11554A>C (p.Arg3852=)
c.11707A>C (p.Arg3903=)
c.10612A>C (p.Arg3538=)
c.*33A>C (n.*33A>C)
c.6796A>C (p.Arg2266=)
c.6349A>C (p.Arg2117=)
c.5686A>C (p.Arg1896=)
c.10201A>C (p.Arg3401=)
5g.13735294C>ACA359223580DNAH5c.11598G>T (p.Lys3866Asn)
c.11553G>T (p.Lys3851Asn)
c.11706G>T (p.Lys3902Asn)
c.10611G>T (p.Lys3537Asn)
c.*32G>T (n.*32G>T)
c.6795G>T (p.Lys2265Asn)
c.6348G>T (p.Lys2116Asn)
c.5685G>T (p.Lys1895Asn)
c.10200G>T (p.Lys3400Asn)
 gnomAD v4
5g.13735294C=CA1528414869DNAH5c.11598G= (p.Lys3866=)
c.11553G= (p.Lys3851=)
c.11706G= (p.Lys3902=)
c.10611G= (p.Lys3537=)
c.*32G= (n.*32G=)
c.6795G= (p.Lys2265=)
c.6348G= (p.Lys2116=)
c.5685G= (p.Lys1895=)
c.10200G= (p.Lys3400=)
5g.13735294C>GCA359223578DNAH5c.11598G>C (p.Lys3866Asn)
c.11553G>C (p.Lys3851Asn)
c.11706G>C (p.Lys3902Asn)
c.10611G>C (p.Lys3537Asn)
c.*32G>C (n.*32G>C)
c.6795G>C (p.Lys2265Asn)
c.6348G>C (p.Lys2116Asn)
c.5685G>C (p.Lys1895Asn)
c.10200G>C (p.Lys3400Asn)
5g.13735294C>TCA443260087DNAH5c.11598G>A (p.Lys3866=)
c.11553G>A (p.Lys3851=)
c.11706G>A (p.Lys3902=)
c.10611G>A (p.Lys3537=)
c.*32G>A (n.*32G>A)
c.6795G>A (p.Lys2265=)
c.6348G>A (p.Lys2116=)
c.5685G>A (p.Lys1895=)
c.10200G>A (p.Lys3400=)
 ClinVar dbSNP
5g.13735295T>ACA359223583DNAH5c.11597A>T (p.Lys3866Met)
c.11552A>T (p.Lys3851Met)
c.11705A>T (p.Lys3902Met)
c.10610A>T (p.Lys3537Met)
c.*31A>T (n.*31A>T)
c.6794A>T (p.Lys2265Met)
c.6347A>T (p.Lys2116Met)
c.5684A>T (p.Lys1895Met)
c.10199A>T (p.Lys3400Met)
5g.13735295T>CCA359223589DNAH5c.11597A>G (p.Lys3866Arg)
c.11552A>G (p.Lys3851Arg)
c.11705A>G (p.Lys3902Arg)
c.10610A>G (p.Lys3537Arg)
c.*31A>G (n.*31A>G)
c.6794A>G (p.Lys2265Arg)
c.6347A>G (p.Lys2116Arg)
c.5684A>G (p.Lys1895Arg)
c.10199A>G (p.Lys3400Arg)
5g.13735295T>GCA359223588DNAH5c.11597A>C (p.Lys3866Thr)
c.11552A>C (p.Lys3851Thr)
c.11705A>C (p.Lys3902Thr)
c.10610A>C (p.Lys3537Thr)
c.*31A>C (n.*31A>C)
c.6794A>C (p.Lys2265Thr)
c.6347A>C (p.Lys2116Thr)
c.5684A>C (p.Lys1895Thr)
c.10199A>C (p.Lys3400Thr)
5g.13735296T>ACA359223592DNAH5c.11596A>T (p.Lys3866Ter)
c.11551A>T (p.Lys3851Ter)
c.11704A>T (p.Lys3902Ter)
c.10609A>T (p.Lys3537Ter)
c.*30A>T (n.*30A>T)
c.6793A>T (p.Lys2265Ter)
c.6346A>T (p.Lys2116Ter)
c.5683A>T (p.Lys1895Ter)
c.10198A>T (p.Lys3400Ter)
5g.13735296T>CCA359223594DNAH5c.11596A>G (p.Lys3866Glu)
c.11551A>G (p.Lys3851Glu)
c.11704A>G (p.Lys3902Glu)
c.10609A>G (p.Lys3537Glu)
c.*30A>G (n.*30A>G)
c.6793A>G (p.Lys2265Glu)
c.6346A>G (p.Lys2116Glu)
c.5683A>G (p.Lys1895Glu)
c.10198A>G (p.Lys3400Glu)
 gnomAD v4
5g.13735296T>GCA359223595DNAH5c.11596A>C (p.Lys3866Gln)
c.11551A>C (p.Lys3851Gln)
c.11704A>C (p.Lys3902Gln)
c.10609A>C (p.Lys3537Gln)
c.*30A>C (n.*30A>C)
c.6793A>C (p.Lys2265Gln)
c.6346A>C (p.Lys2116Gln)
c.5683A>C (p.Lys1895Gln)
c.10198A>C (p.Lys3400Gln)
5g.13735297G>ACA443260089DNAH5c.11595C>T (p.Ser3865=)
c.11550C>T (p.Ser3850=)
c.11703C>T (p.Ser3901=)
c.10608C>T (p.Ser3536=)
c.*29C>T (n.*29C>T)
c.6792C>T (p.Ser2264=)
c.6345C>T (p.Ser2115=)
c.5682C>T (p.Ser1894=)
c.10197C>T (p.Ser3399=)
5g.13735297G>CCA359223597DNAH5c.11595C>G (p.Ser3865Arg)
c.11550C>G (p.Ser3850Arg)
c.11703C>G (p.Ser3901Arg)
c.10608C>G (p.Ser3536Arg)
c.*29C>G (n.*29C>G)
c.6792C>G (p.Ser2264Arg)
c.6345C>G (p.Ser2115Arg)
c.5682C>G (p.Ser1894Arg)
c.10197C>G (p.Ser3399Arg)
5g.13735297G>TCA359223605DNAH5c.11595C>A (p.Ser3865Arg)
c.11550C>A (p.Ser3850Arg)
c.11703C>A (p.Ser3901Arg)
c.10608C>A (p.Ser3536Arg)
c.*29C>A (n.*29C>A)
c.6792C>A (p.Ser2264Arg)
c.6345C>A (p.Ser2115Arg)
c.5682C>A (p.Ser1894Arg)
c.10197C>A (p.Ser3399Arg)
5g.13735298C>ACA359223606DNAH5c.11594G>T (p.Ser3865Ile)
c.11549G>T (p.Ser3850Ile)
c.11702G>T (p.Ser3901Ile)
c.10607G>T (p.Ser3536Ile)
c.*28G>T (n.*28G>T)
c.6791G>T (p.Ser2264Ile)
c.6344G>T (p.Ser2115Ile)
c.5681G>T (p.Ser1894Ile)
c.10196G>T (p.Ser3399Ile)
5g.13735298C>GCA359223607DNAH5c.11594G>C (p.Ser3865Thr)
c.11549G>C (p.Ser3850Thr)
c.11702G>C (p.Ser3901Thr)
c.10607G>C (p.Ser3536Thr)
c.*28G>C (n.*28G>C)
c.6791G>C (p.Ser2264Thr)
c.6344G>C (p.Ser2115Thr)
c.5681G>C (p.Ser1894Thr)
c.10196G>C (p.Ser3399Thr)
5g.13735298C>TCA359223609DNAH5c.11594G>A (p.Ser3865Asn)
c.11549G>A (p.Ser3850Asn)
c.11702G>A (p.Ser3901Asn)
c.10607G>A (p.Ser3536Asn)
c.*28G>A (n.*28G>A)
c.6791G>A (p.Ser2264Asn)
c.6344G>A (p.Ser2115Asn)
c.5681G>A (p.Ser1894Asn)
c.10196G>A (p.Ser3399Asn)
5g.13735299T>ACA359223611DNAH5c.11593A>T (p.Ser3865Cys)
c.11548A>T (p.Ser3850Cys)
c.11701A>T (p.Ser3901Cys)
c.10606A>T (p.Ser3536Cys)
c.*27A>T (n.*27A>T)
c.6790A>T (p.Ser2264Cys)
c.6343A>T (p.Ser2115Cys)
c.5680A>T (p.Ser1894Cys)
c.10195A>T (p.Ser3399Cys)
5g.13735299T>CCA359223614DNAH5c.11593A>G (p.Ser3865Gly)
c.11548A>G (p.Ser3850Gly)
c.11701A>G (p.Ser3901Gly)
c.10606A>G (p.Ser3536Gly)
c.*27A>G (n.*27A>G)
c.6790A>G (p.Ser2264Gly)
c.6343A>G (p.Ser2115Gly)
c.5680A>G (p.Ser1894Gly)
c.10195A>G (p.Ser3399Gly)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.13735299T>GCA359223617DNAH5c.11593A>C (p.Ser3865Arg)
c.11548A>C (p.Ser3850Arg)
c.11701A>C (p.Ser3901Arg)
c.10606A>C (p.Ser3536Arg)
c.*27A>C (n.*27A>C)
c.6790A>C (p.Ser2264Arg)
c.6343A>C (p.Ser2115Arg)
c.5680A>C (p.Ser1894Arg)
c.10195A>C (p.Ser3399Arg)
5g.13735299T=CA1528414870DNAH5c.11593A= (p.Ser3865=)
c.11548A= (p.Ser3850=)
c.11701A= (p.Ser3901=)
c.10606A= (p.Ser3536=)
c.*27A= (n.*27A=)
c.6790A= (p.Ser2264=)
c.6343A= (p.Ser2115=)
c.5680A= (p.Ser1894=)
c.10195A= (p.Ser3399=)
5g.13735300T>ACA443260093DNAH5c.11592A>T (p.Thr3864=)
c.11547A>T (p.Thr3849=)
c.11700A>T (p.Thr3900=)
c.10605A>T (p.Thr3535=)
c.*26A>T (n.*26A>T)
c.6789A>T (p.Thr2263=)
c.6342A>T (p.Thr2114=)
c.5679A>T (p.Thr1893=)
c.10194A>T (p.Thr3398=)
5g.13735300T>CCA443260094DNAH5c.11592A>G (p.Thr3864=)
c.11547A>G (p.Thr3849=)
c.11700A>G (p.Thr3900=)
c.10605A>G (p.Thr3535=)
c.*26A>G (n.*26A>G)
c.6789A>G (p.Thr2263=)
c.6342A>G (p.Thr2114=)
c.5679A>G (p.Thr1893=)
c.10194A>G (p.Thr3398=)
5g.13735300T>GCA443260095DNAH5c.11592A>C (p.Thr3864=)
c.11547A>C (p.Thr3849=)
c.11700A>C (p.Thr3900=)
c.10605A>C (p.Thr3535=)
c.*26A>C (n.*26A>C)
c.6789A>C (p.Thr2263=)
c.6342A>C (p.Thr2114=)
c.5679A>C (p.Thr1893=)
c.10194A>C (p.Thr3398=)
 gnomAD v4
5g.13735301G>ACA359223621DNAH5c.11591C>T (p.Thr3864Ile)
c.11546C>T (p.Thr3849Ile)
c.11699C>T (p.Thr3900Ile)
c.10604C>T (p.Thr3535Ile)
c.*25C>T (n.*25C>T)
c.6788C>T (p.Thr2263Ile)
c.6341C>T (p.Thr2114Ile)
c.5678C>T (p.Thr1893Ile)
c.10193C>T (p.Thr3398Ile)
 dbSNP
5g.13735301G>CCA359223619DNAH5c.11591C>G (p.Thr3864Arg)
c.11546C>G (p.Thr3849Arg)
c.11699C>G (p.Thr3900Arg)
c.10604C>G (p.Thr3535Arg)
c.*25C>G (n.*25C>G)
c.6788C>G (p.Thr2263Arg)
c.6341C>G (p.Thr2114Arg)
c.5678C>G (p.Thr1893Arg)
c.10193C>G (p.Thr3398Arg)
 gnomAD v4
5g.13735301G=CA1528414871DNAH5c.11591C= (p.Thr3864=)
c.11546C= (p.Thr3849=)
c.11699C= (p.Thr3900=)
c.10604C= (p.Thr3535=)
c.*25C= (n.*25C=)
c.6788C= (p.Thr2263=)
c.6341C= (p.Thr2114=)
c.5678C= (p.Thr1893=)
c.10193C= (p.Thr3398=)
5g.13735301G>TCA359223618DNAH5c.11591C>A (p.Thr3864Lys)
c.11546C>A (p.Thr3849Lys)
c.11699C>A (p.Thr3900Lys)
c.10604C>A (p.Thr3535Lys)
c.*25C>A (n.*25C>A)
c.6788C>A (p.Thr2263Lys)
c.6341C>A (p.Thr2114Lys)
c.5678C>A (p.Thr1893Lys)
c.10193C>A (p.Thr3398Lys)
5g.13735302T>ACA359223624DNAH5c.11590A>T (p.Thr3864Ser)
c.11545A>T (p.Thr3849Ser)
c.11698A>T (p.Thr3900Ser)
c.10603A>T (p.Thr3535Ser)
c.*24A>T (n.*24A>T)
c.6787A>T (p.Thr2263Ser)
c.6340A>T (p.Thr2114Ser)
c.5677A>T (p.Thr1893Ser)
c.10192A>T (p.Thr3398Ser)
5g.13735302T>CCA359223627DNAH5c.11590A>G (p.Thr3864Ala)
c.11545A>G (p.Thr3849Ala)
c.11698A>G (p.Thr3900Ala)
c.10603A>G (p.Thr3535Ala)
c.*24A>G (n.*24A>G)
c.6787A>G (p.Thr2263Ala)
c.6340A>G (p.Thr2114Ala)
c.5677A>G (p.Thr1893Ala)
c.10192A>G (p.Thr3398Ala)
5g.13735302T>GCA359223628DNAH5c.11590A>C (p.Thr3864Pro)
c.11545A>C (p.Thr3849Pro)
c.11698A>C (p.Thr3900Pro)
c.10603A>C (p.Thr3535Pro)
c.*24A>C (n.*24A>C)
c.6787A>C (p.Thr2263Pro)
c.6340A>C (p.Thr2114Pro)
c.5677A>C (p.Thr1893Pro)
c.10192A>C (p.Thr3398Pro)
5g.13735303A=CA1528414872DNAH5c.11589T= (p.Ile3863=)
c.11544T= (p.Ile3848=)
c.11697T= (p.Ile3899=)
c.10602T= (p.Ile3534=)
c.*23T= (n.*23T=)
c.6786T= (p.Ile2262=)
c.6339T= (p.Ile2113=)
c.5676T= (p.Ile1892=)
c.10191T= (p.Ile3397=)
5g.13735303A>CCA359223629DNAH5c.11589T>G (p.Ile3863Met)
c.11544T>G (p.Ile3848Met)
c.11697T>G (p.Ile3899Met)
c.10602T>G (p.Ile3534Met)
c.*23T>G (n.*23T>G)
c.6786T>G (p.Ile2262Met)
c.6339T>G (p.Ile2113Met)
c.5676T>G (p.Ile1892Met)
c.10191T>G (p.Ile3397Met)
5g.13735303A>GCA443260097DNAH5c.11589T>C (p.Ile3863=)
c.11544T>C (p.Ile3848=)
c.11697T>C (p.Ile3899=)
c.10602T>C (p.Ile3534=)
c.*23T>C (n.*23T>C)
c.6786T>C (p.Ile2262=)
c.6339T>C (p.Ile2113=)
c.5676T>C (p.Ile1892=)
c.10191T>C (p.Ile3397=)
5g.13735303A>TCA443260096DNAH5c.11589T>A (p.Ile3863=)
c.11544T>A (p.Ile3848=)
c.11697T>A (p.Ile3899=)
c.10602T>A (p.Ile3534=)
c.*23T>A (n.*23T>A)
c.6786T>A (p.Ile2262=)
c.6339T>A (p.Ile2113=)
c.5676T>A (p.Ile1892=)
c.10191T>A (p.Ile3397=)
 dbSNP gnomAD v4
5g.13735304dupCA2695204198DNAH5c.11589dup (p.Thr3864TyrfsTer7)
c.11544dup (p.Thr3849TyrfsTer7)
c.11697dup (p.Thr3900TyrfsTer7)
c.10602dup (p.Thr3535TyrfsTer7)
c.*23dup (n.*23dup)
c.6786dup (p.Thr2263TyrfsTer7)
c.6339dup (p.Thr2114TyrfsTer7)
c.5676dup (p.Thr1893TyrfsTer7)
c.10191dup (p.Thr3398TyrfsTer7)
5g.13735304A>CCA359223631DNAH5c.11588T>G (p.Ile3863Ser)
c.11543T>G (p.Ile3848Ser)
c.11696T>G (p.Ile3899Ser)
c.10601T>G (p.Ile3534Ser)
c.*22T>G (n.*22T>G)
c.6785T>G (p.Ile2262Ser)
c.6338T>G (p.Ile2113Ser)
c.5675T>G (p.Ile1892Ser)
c.10190T>G (p.Ile3397Ser)
5g.13735304A>GCA359223633DNAH5c.11588T>C (p.Ile3863Thr)
c.11543T>C (p.Ile3848Thr)
c.11696T>C (p.Ile3899Thr)
c.10601T>C (p.Ile3534Thr)
c.*22T>C (n.*22T>C)
c.6785T>C (p.Ile2262Thr)
c.6338T>C (p.Ile2113Thr)
c.5675T>C (p.Ile1892Thr)
c.10190T>C (p.Ile3397Thr)
5g.13735304A>TCA359223636DNAH5c.11588T>A (p.Ile3863Asn)
c.11543T>A (p.Ile3848Asn)
c.11696T>A (p.Ile3899Asn)
c.10601T>A (p.Ile3534Asn)
c.*22T>A (n.*22T>A)
c.6785T>A (p.Ile2262Asn)
c.6338T>A (p.Ile2113Asn)
c.5675T>A (p.Ile1892Asn)
c.10190T>A (p.Ile3397Asn)
5g.13735305T>ACA359223640DNAH5c.11587A>T (p.Ile3863Phe)
c.11542A>T (p.Ile3848Phe)
c.11695A>T (p.Ile3899Phe)
c.10600A>T (p.Ile3534Phe)
c.*21A>T (n.*21A>T)
c.6784A>T (p.Ile2262Phe)
c.6337A>T (p.Ile2113Phe)
c.5674A>T (p.Ile1892Phe)
c.10189A>T (p.Ile3397Phe)
5g.13735305T>CCA359223644DNAH5c.11587A>G (p.Ile3863Val)
c.11542A>G (p.Ile3848Val)
c.11695A>G (p.Ile3899Val)
c.10600A>G (p.Ile3534Val)
c.*21A>G (n.*21A>G)
c.6784A>G (p.Ile2262Val)
c.6337A>G (p.Ile2113Val)
c.5674A>G (p.Ile1892Val)
c.10189A>G (p.Ile3397Val)
5g.13735305T>GCA359223649DNAH5c.11587A>C (p.Ile3863Leu)
c.11542A>C (p.Ile3848Leu)
c.11695A>C (p.Ile3899Leu)
c.10600A>C (p.Ile3534Leu)
c.*21A>C (n.*21A>C)
c.6784A>C (p.Ile2262Leu)
c.6337A>C (p.Ile2113Leu)
c.5674A>C (p.Ile1892Leu)
c.10189A>C (p.Ile3397Leu)
5g.13735306C>ACA443260100DNAH5c.11586G>T (p.Pro3862=)
c.11541G>T (p.Pro3847=)
c.11694G>T (p.Pro3898=)
c.10599G>T (p.Pro3533=)
c.*20G>T (n.*20G>T)
c.6783G>T (p.Pro2261=)
c.6336G>T (p.Pro2112=)
c.5673G>T (p.Pro1891=)
c.10188G>T (p.Pro3396=)
 ClinVar dbSNP gnomAD v4
5g.13735306C=CA1528414873DNAH5c.11586G= (p.Pro3862=)
c.11541G= (p.Pro3847=)
c.11694G= (p.Pro3898=)
c.10599G= (p.Pro3533=)
c.*20G= (n.*20G=)
c.6783G= (p.Pro2261=)
c.6336G= (p.Pro2112=)
c.5673G= (p.Pro1891=)
c.10188G= (p.Pro3396=)
5g.13735306C>GCA339228DNAH5c.11586G>C (p.Pro3862=)
c.11541G>C (p.Pro3847=)
c.11694G>C (p.Pro3898=)
c.10599G>C (p.Pro3533=)
c.*20G>C (n.*20G>C)
c.6783G>C (p.Pro2261=)
c.6336G>C (p.Pro2112=)
c.5673G>C (p.Pro1891=)
c.10188G>C (p.Pro3396=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.13735306C>TCA3201898DNAH5c.11586G>A (p.Pro3862=)
c.11541G>A (p.Pro3847=)
c.11694G>A (p.Pro3898=)
c.10599G>A (p.Pro3533=)
c.*20G>A (n.*20G>A)
c.6783G>A (p.Pro2261=)
c.6336G>A (p.Pro2112=)
c.5673G>A (p.Pro1891=)
c.10188G>A (p.Pro3396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735307G>ACA3201899DNAH5c.11585C>T (p.Pro3862Leu)
c.11540C>T (p.Pro3847Leu)
c.11693C>T (p.Pro3898Leu)
c.10598C>T (p.Pro3533Leu)
c.*19C>T (n.*19C>T)
c.6782C>T (p.Pro2261Leu)
c.6335C>T (p.Pro2112Leu)
c.5672C>T (p.Pro1891Leu)
c.10187C>T (p.Pro3396Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735307G>CCA359223664DNAH5c.11585C>G (p.Pro3862Arg)
c.11540C>G (p.Pro3847Arg)
c.11693C>G (p.Pro3898Arg)
c.10598C>G (p.Pro3533Arg)
c.*19C>G (n.*19C>G)
c.6782C>G (p.Pro2261Arg)
c.6335C>G (p.Pro2112Arg)
c.5672C>G (p.Pro1891Arg)
c.10187C>G (p.Pro3396Arg)
 ClinVar dbSNP gnomAD v4
5g.13735307G=CA1528414874DNAH5c.11585C= (p.Pro3862=)
c.11540C= (p.Pro3847=)
c.11693C= (p.Pro3898=)
c.10598C= (p.Pro3533=)
c.*19C= (n.*19C=)
c.6782C= (p.Pro2261=)
c.6335C= (p.Pro2112=)
c.5672C= (p.Pro1891=)
c.10187C= (p.Pro3396=)
5g.13735307G>TCA359223662DNAH5c.11585C>A (p.Pro3862Gln)
c.11540C>A (p.Pro3847Gln)
c.11693C>A (p.Pro3898Gln)
c.10598C>A (p.Pro3533Gln)
c.*19C>A (n.*19C>A)
c.6782C>A (p.Pro2261Gln)
c.6335C>A (p.Pro2112Gln)
c.5672C>A (p.Pro1891Gln)
c.10187C>A (p.Pro3396Gln)
 gnomAD v4
5g.13735309delCA2673267927DNAH5c.11585del (p.Pro3862ArgfsTer14)
c.11540del (p.Pro3847ArgfsTer14)
c.11693del (p.Pro3898ArgfsTer14)
c.10598del (p.Pro3533ArgfsTer14)
c.*19del (n.*19del)
c.6782del (p.Pro2261ArgfsTer14)
c.6335del (p.Pro2112ArgfsTer14)
c.5672del (p.Pro1891ArgfsTer14)
c.10187del (p.Pro3396ArgfsTer14)
 gnomAD v4
5g.13735308G>ACA359223680DNAH5c.11584C>T (p.Pro3862Ser)
c.11539C>T (p.Pro3847Ser)
c.11692C>T (p.Pro3898Ser)
c.10597C>T (p.Pro3533Ser)
c.*18C>T (n.*18C>T)
c.6781C>T (p.Pro2261Ser)
c.6334C>T (p.Pro2112Ser)
c.5671C>T (p.Pro1891Ser)
c.10186C>T (p.Pro3396Ser)
5g.13735308G>CCA359223675DNAH5c.11584C>G (p.Pro3862Ala)
c.11539C>G (p.Pro3847Ala)
c.11692C>G (p.Pro3898Ala)
c.10597C>G (p.Pro3533Ala)
c.*18C>G (n.*18C>G)
c.6781C>G (p.Pro2261Ala)
c.6334C>G (p.Pro2112Ala)
c.5671C>G (p.Pro1891Ala)
c.10186C>G (p.Pro3396Ala)
 gnomAD v4
5g.13735308G>TCA359223679DNAH5c.11584C>A (p.Pro3862Thr)
c.11539C>A (p.Pro3847Thr)
c.11692C>A (p.Pro3898Thr)
c.10597C>A (p.Pro3533Thr)
c.*18C>A (n.*18C>A)
c.6781C>A (p.Pro2261Thr)
c.6334C>A (p.Pro2112Thr)
c.5671C>A (p.Pro1891Thr)
c.10186C>A (p.Pro3396Thr)
5g.13735309G>ACA443260102DNAH5c.11583C>T (p.Ser3861=)
c.11538C>T (p.Ser3846=)
c.11691C>T (p.Ser3897=)
c.10596C>T (p.Ser3532=)
c.*17C>T (n.*17C>T)
c.6780C>T (p.Ser2260=)
c.6333C>T (p.Ser2111=)
c.5670C>T (p.Ser1890=)
c.10185C>T (p.Ser3395=)
 dbSNP gnomAD v3 gnomAD v4
5g.13735309G>CCA359223684DNAH5c.11583C>G (p.Ser3861Arg)
c.11538C>G (p.Ser3846Arg)
c.11691C>G (p.Ser3897Arg)
c.10596C>G (p.Ser3532Arg)
c.*17C>G (n.*17C>G)
c.6780C>G (p.Ser2260Arg)
c.6333C>G (p.Ser2111Arg)
c.5670C>G (p.Ser1890Arg)
c.10185C>G (p.Ser3395Arg)
5g.13735309G=CA1528414875DNAH5c.11583C= (p.Ser3861=)
c.11538C= (p.Ser3846=)
c.11691C= (p.Ser3897=)
c.10596C= (p.Ser3532=)
c.*17C= (n.*17C=)
c.6780C= (p.Ser2260=)
c.6333C= (p.Ser2111=)
c.5670C= (p.Ser1890=)
c.10185C= (p.Ser3395=)
5g.13735309G>TCA3201900DNAH5c.11583C>A (p.Ser3861Arg)
c.11538C>A (p.Ser3846Arg)
c.11691C>A (p.Ser3897Arg)
c.10596C>A (p.Ser3532Arg)
c.*17C>A (n.*17C>A)
c.6780C>A (p.Ser2260Arg)
c.6333C>A (p.Ser2111Arg)
c.5670C>A (p.Ser1890Arg)
c.10185C>A (p.Ser3395Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.13735310C>ACA359223691DNAH5c.11582G>T (p.Ser3861Ile)
c.11537G>T (p.Ser3846Ile)
c.11690G>T (p.Ser3897Ile)
c.10595G>T (p.Ser3532Ile)
c.*16G>T (n.*16G>T)
c.6779G>T (p.Ser2260Ile)
c.6332G>T (p.Ser2111Ile)
c.5669G>T (p.Ser1890Ile)
c.10184G>T (p.Ser3395Ile)
5g.13735310C>GCA359223692DNAH5c.11582G>C (p.Ser3861Thr)
c.11537G>C (p.Ser3846Thr)
c.11690G>C (p.Ser3897Thr)
c.10595G>C (p.Ser3532Thr)
c.*16G>C (n.*16G>C)
c.6779G>C (p.Ser2260Thr)
c.6332G>C (p.Ser2111Thr)
c.5669G>C (p.Ser1890Thr)
c.10184G>C (p.Ser3395Thr)
5g.13735310C>TCA359223693DNAH5c.11582G>A (p.Ser3861Asn)
c.11537G>A (p.Ser3846Asn)
c.11690G>A (p.Ser3897Asn)
c.10595G>A (p.Ser3532Asn)
c.*16G>A (n.*16G>A)
c.6779G>A (p.Ser2260Asn)
c.6332G>A (p.Ser2111Asn)
c.5669G>A (p.Ser1890Asn)
c.10184G>A (p.Ser3395Asn)
5g.13735311T>ACA359223695DNAH5c.11581A>T (p.Ser3861Cys)
c.11536A>T (p.Ser3846Cys)
c.11689A>T (p.Ser3897Cys)
c.10594A>T (p.Ser3532Cys)
c.*15A>T (n.*15A>T)
c.6778A>T (p.Ser2260Cys)
c.6331A>T (p.Ser2111Cys)
c.5668A>T (p.Ser1890Cys)
c.10183A>T (p.Ser3395Cys)
5g.13735311T>CCA359223697DNAH5c.11581A>G (p.Ser3861Gly)
c.11536A>G (p.Ser3846Gly)
c.11689A>G (p.Ser3897Gly)
c.10594A>G (p.Ser3532Gly)
c.*15A>G (n.*15A>G)
c.6778A>G (p.Ser2260Gly)
c.6331A>G (p.Ser2111Gly)
c.5668A>G (p.Ser1890Gly)
c.10183A>G (p.Ser3395Gly)
5g.13735311T>GCA359223700DNAH5c.11581A>C (p.Ser3861Arg)
c.11536A>C (p.Ser3846Arg)
c.11689A>C (p.Ser3897Arg)
c.10594A>C (p.Ser3532Arg)
c.*15A>C (n.*15A>C)
c.6778A>C (p.Ser2260Arg)
c.6331A>C (p.Ser2111Arg)
c.5668A>C (p.Ser1890Arg)
c.10183A>C (p.Ser3395Arg)
5g.13735312C>ACA359223705DNAH5c.11580G>T (p.Lys3860Asn)
c.11535G>T (p.Lys3845Asn)
c.11688G>T (p.Lys3896Asn)
c.10593G>T (p.Lys3531Asn)
c.*14G>T (n.*14G>T)
c.6777G>T (p.Lys2259Asn)
c.6330G>T (p.Lys2110Asn)
c.5667G>T (p.Lys1889Asn)
c.10182G>T (p.Lys3394Asn)
5g.13735312C>GCA359223708DNAH5c.11580G>C (p.Lys3860Asn)
c.11535G>C (p.Lys3845Asn)
c.11688G>C (p.Lys3896Asn)
c.10593G>C (p.Lys3531Asn)
c.*14G>C (n.*14G>C)
c.6777G>C (p.Lys2259Asn)
c.6330G>C (p.Lys2110Asn)
c.5667G>C (p.Lys1889Asn)
c.10182G>C (p.Lys3394Asn)
5g.13735312C>TCA443260106DNAH5c.11580G>A (p.Lys3860=)
c.11535G>A (p.Lys3845=)
c.11688G>A (p.Lys3896=)
c.10593G>A (p.Lys3531=)
c.*14G>A (n.*14G>A)
c.6777G>A (p.Lys2259=)
c.6330G>A (p.Lys2110=)
c.5667G>A (p.Lys1889=)
c.10182G>A (p.Lys3394=)
 gnomAD v4
5g.13735313T>ACA359223712DNAH5c.11579A>T (p.Lys3860Met)
c.11534A>T (p.Lys3845Met)
c.11687A>T (p.Lys3896Met)
c.10592A>T (p.Lys3531Met)
c.*13A>T (n.*13A>T)
c.6776A>T (p.Lys2259Met)
c.6329A>T (p.Lys2110Met)
c.5666A>T (p.Lys1889Met)
c.10181A>T (p.Lys3394Met)
5g.13735313T>CCA359223725DNAH5c.11579A>G (p.Lys3860Arg)
c.11534A>G (p.Lys3845Arg)
c.11687A>G (p.Lys3896Arg)
c.10592A>G (p.Lys3531Arg)
c.*13A>G (n.*13A>G)
c.6776A>G (p.Lys2259Arg)
c.6329A>G (p.Lys2110Arg)
c.5666A>G (p.Lys1889Arg)
c.10181A>G (p.Lys3394Arg)
5g.13735313T>GCA359223711DNAH5c.11579A>C (p.Lys3860Thr)
c.11534A>C (p.Lys3845Thr)
c.11687A>C (p.Lys3896Thr)
c.10592A>C (p.Lys3531Thr)
c.*13A>C (n.*13A>C)
c.6776A>C (p.Lys2259Thr)
c.6329A>C (p.Lys2110Thr)
c.5666A>C (p.Lys1889Thr)
c.10181A>C (p.Lys3394Thr)
5g.13735314T>ACA359223727DNAH5c.11578A>T (p.Lys3860Ter)
c.11533A>T (p.Lys3845Ter)
c.11686A>T (p.Lys3896Ter)
c.10591A>T (p.Lys3531Ter)
c.*12A>T (n.*12A>T)
c.6775A>T (p.Lys2259Ter)
c.6328A>T (p.Lys2110Ter)
c.5665A>T (p.Lys1889Ter)
c.10180A>T (p.Lys3394Ter)
5g.13735314T>CCA359223730DNAH5c.11578A>G (p.Lys3860Glu)
c.11533A>G (p.Lys3845Glu)
c.11686A>G (p.Lys3896Glu)
c.10591A>G (p.Lys3531Glu)
c.*12A>G (n.*12A>G)
c.6775A>G (p.Lys2259Glu)
c.6328A>G (p.Lys2110Glu)
c.5665A>G (p.Lys1889Glu)
c.10180A>G (p.Lys3394Glu)
5g.13735314T>GCA359223733DNAH5c.11578A>C (p.Lys3860Gln)
c.11533A>C (p.Lys3845Gln)
c.11686A>C (p.Lys3896Gln)
c.10591A>C (p.Lys3531Gln)
c.*12A>C (n.*12A>C)
c.6775A>C (p.Lys2259Gln)
c.6328A>C (p.Lys2110Gln)
c.5665A>C (p.Lys1889Gln)
c.10180A>C (p.Lys3394Gln)
5g.13735315G>ACA443260108DNAH5c.11577C>T (p.Val3859=)
c.11532C>T (p.Val3844=)
c.11685C>T (p.Val3895=)
c.10590C>T (p.Val3530=)
c.*11C>T (n.*11C>T)
c.6774C>T (p.Val2258=)
c.6327C>T (p.Val2109=)
c.5664C>T (p.Val1888=)
c.10179C>T (p.Val3393=)
5g.13735315G>CCA3201901DNAH5c.11577C>G (p.Val3859=)
c.11532C>G (p.Val3844=)
c.11685C>G (p.Val3895=)
c.10590C>G (p.Val3530=)
c.*11C>G (n.*11C>G)
c.6774C>G (p.Val2258=)
c.6327C>G (p.Val2109=)
c.5664C>G (p.Val1888=)
c.10179C>G (p.Val3393=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735315G=CA1528414876DNAH5c.11577C= (p.Val3859=)
c.11532C= (p.Val3844=)
c.11685C= (p.Val3895=)
c.10590C= (p.Val3530=)
c.*11C= (n.*11C=)
c.6774C= (p.Val2258=)
c.6327C= (p.Val2109=)
c.5664C= (p.Val1888=)
c.10179C= (p.Val3393=)
5g.13735315G>TCA443260109DNAH5c.11577C>A (p.Val3859=)
c.11532C>A (p.Val3844=)
c.11685C>A (p.Val3895=)
c.10590C>A (p.Val3530=)
c.*11C>A (n.*11C>A)
c.6774C>A (p.Val2258=)
c.6327C>A (p.Val2109=)
c.5664C>A (p.Val1888=)
c.10179C>A (p.Val3393=)
5g.13735316A>CCA359223747DNAH5c.11576T>G (p.Val3859Gly)
c.11531T>G (p.Val3844Gly)
c.11684T>G (p.Val3895Gly)
c.10589T>G (p.Val3530Gly)
c.*10T>G (n.*10T>G)
c.6773T>G (p.Val2258Gly)
c.6326T>G (p.Val2109Gly)
c.5663T>G (p.Val1888Gly)
c.10178T>G (p.Val3393Gly)
5g.13735316A>GCA359223743DNAH5c.11576T>C (p.Val3859Ala)
c.11531T>C (p.Val3844Ala)
c.11684T>C (p.Val3895Ala)
c.10589T>C (p.Val3530Ala)
c.*10T>C (n.*10T>C)
c.6773T>C (p.Val2258Ala)
c.6326T>C (p.Val2109Ala)
c.5663T>C (p.Val1888Ala)
c.10178T>C (p.Val3393Ala)
5g.13735316A>TCA359223739DNAH5c.11576T>A (p.Val3859Asp)
c.11531T>A (p.Val3844Asp)
c.11684T>A (p.Val3895Asp)
c.10589T>A (p.Val3530Asp)
c.*10T>A (n.*10T>A)
c.6773T>A (p.Val2258Asp)
c.6326T>A (p.Val2109Asp)
c.5663T>A (p.Val1888Asp)
c.10178T>A (p.Val3393Asp)
5g.13735317C>ACA359223750DNAH5c.11575G>T (p.Val3859Phe)
c.11530G>T (p.Val3844Phe)
c.11683G>T (p.Val3895Phe)
c.10588G>T (p.Val3530Phe)
c.*9G>T (n.*9G>T)
c.6772G>T (p.Val2258Phe)
c.6325G>T (p.Val2109Phe)
c.5662G>T (p.Val1888Phe)
c.10177G>T (p.Val3393Phe)
5g.13735317C=CA1528414877DNAH5c.11575G= (p.Val3859=)
c.11530G= (p.Val3844=)
c.11683G= (p.Val3895=)
c.10588G= (p.Val3530=)
c.*9G= (n.*9G=)
c.6772G= (p.Val2258=)
c.6325G= (p.Val2109=)
c.5662G= (p.Val1888=)
c.10177G= (p.Val3393=)
5g.13735317C>GCA359223752DNAH5c.11575G>C (p.Val3859Leu)
c.11530G>C (p.Val3844Leu)
c.11683G>C (p.Val3895Leu)
c.10588G>C (p.Val3530Leu)
c.*9G>C (n.*9G>C)
c.6772G>C (p.Val2258Leu)
c.6325G>C (p.Val2109Leu)
c.5662G>C (p.Val1888Leu)
c.10177G>C (p.Val3393Leu)
 dbSNP gnomAD v4
5g.13735317C>TCA359223759DNAH5c.11575G>A (p.Val3859Ile)
c.11530G>A (p.Val3844Ile)
c.11683G>A (p.Val3895Ile)
c.10588G>A (p.Val3530Ile)
c.*9G>A (n.*9G>A)
c.6772G>A (p.Val2258Ile)
c.6325G>A (p.Val2109Ile)
c.5662G>A (p.Val1888Ile)
c.10177G>A (p.Val3393Ile)
 gnomAD v4
5g.13735318A=CA1528414878DNAH5c.11574T= (p.Ser3858=)
c.11529T= (p.Ser3843=)
c.11682T= (p.Ser3894=)
c.10587T= (p.Ser3529=)
c.*8T= (n.*8T=)
c.6771T= (p.Ser2257=)
c.6324T= (p.Ser2108=)
c.5661T= (p.Ser1887=)
c.10176T= (p.Ser3392=)
5g.13735318A>CCA443260111DNAH5c.11574T>G (p.Ser3858=)
c.11529T>G (p.Ser3843=)
c.11682T>G (p.Ser3894=)
c.10587T>G (p.Ser3529=)
c.*8T>G (n.*8T>G)
c.6771T>G (p.Ser2257=)
c.6324T>G (p.Ser2108=)
c.5661T>G (p.Ser1887=)
c.10176T>G (p.Ser3392=)
5g.13735318A>GCA3201902DNAH5c.11574T>C (p.Ser3858=)
c.11529T>C (p.Ser3843=)
c.11682T>C (p.Ser3894=)
c.10587T>C (p.Ser3529=)
c.*8T>C (n.*8T>C)
c.6771T>C (p.Ser2257=)
c.6324T>C (p.Ser2108=)
c.5661T>C (p.Ser1887=)
c.10176T>C (p.Ser3392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13735318A>TCA443260112DNAH5c.11574T>A (p.Ser3858=)
c.11529T>A (p.Ser3843=)
c.11682T>A (p.Ser3894=)
c.10587T>A (p.Ser3529=)
c.*8T>A (n.*8T>A)
c.6771T>A (p.Ser2257=)
c.6324T>A (p.Ser2108=)
c.5661T>A (p.Ser1887=)
c.10176T>A (p.Ser3392=)
5g.13735319G>ACA359223761DNAH5c.11573C>T (p.Ser3858Phe)
c.11528C>T (p.Ser3843Phe)
c.11681C>T (p.Ser3894Phe)
c.10586C>T (p.Ser3529Phe)
c.*7C>T (n.*7C>T)
c.6770C>T (p.Ser2257Phe)
c.6323C>T (p.Ser2108Phe)
c.5660C>T (p.Ser1887Phe)
c.10175C>T (p.Ser3392Phe)
 gnomAD v4
5g.13735319G>CCA359223762DNAH5c.11573C>G (p.Ser3858Cys)
c.11528C>G (p.Ser3843Cys)
c.11681C>G (p.Ser3894Cys)
c.10586C>G (p.Ser3529Cys)
c.*7C>G (n.*7C>G)
c.6770C>G (p.Ser2257Cys)
c.6323C>G (p.Ser2108Cys)
c.5660C>G (p.Ser1887Cys)
c.10175C>G (p.Ser3392Cys)
5g.13735319G>TCA359223765DNAH5c.11573C>A (p.Ser3858Tyr)
c.11528C>A (p.Ser3843Tyr)
c.11681C>A (p.Ser3894Tyr)
c.10586C>A (p.Ser3529Tyr)
c.*7C>A (n.*7C>A)
c.6770C>A (p.Ser2257Tyr)
c.6323C>A (p.Ser2108Tyr)
c.5660C>A (p.Ser1887Tyr)
c.10175C>A (p.Ser3392Tyr)
5g.13735320A>CCA359223769DNAH5c.11572T>G (p.Ser3858Ala)
c.11527T>G (p.Ser3843Ala)
c.11680T>G (p.Ser3894Ala)
c.10585T>G (p.Ser3529Ala)
c.*6T>G (n.*6T>G)
c.6769T>G (p.Ser2257Ala)
c.6322T>G (p.Ser2108Ala)
c.5659T>G (p.Ser1887Ala)
c.10174T>G (p.Ser3392Ala)
5g.13735320A>GCA359223768DNAH5c.11572T>C (p.Ser3858Pro)
c.11527T>C (p.Ser3843Pro)
c.11680T>C (p.Ser3894Pro)
c.10585T>C (p.Ser3529Pro)
c.*6T>C (n.*6T>C)
c.6769T>C (p.Ser2257Pro)
c.6322T>C (p.Ser2108Pro)
c.5659T>C (p.Ser1887Pro)
c.10174T>C (p.Ser3392Pro)
 gnomAD v4
5g.13735320A>TCA359223767DNAH5c.11572T>A (p.Ser3858Thr)
c.11527T>A (p.Ser3843Thr)
c.11680T>A (p.Ser3894Thr)
c.10585T>A (p.Ser3529Thr)
c.*6T>A (n.*6T>A)
c.6769T>A (p.Ser2257Thr)
c.6322T>A (p.Ser2108Thr)
c.5659T>A (p.Ser1887Thr)
c.10174T>A (p.Ser3392Thr)
5g.13735321C>ACA359223772DNAH5c.11571G>T (p.Arg3857Ser)
c.11526G>T (p.Arg3842Ser)
c.11679G>T (p.Arg3893Ser)
c.10584G>T (p.Arg3528Ser)
c.*5G>T (n.*5G>T)
c.6768G>T (p.Arg2256Ser)
c.6321G>T (p.Arg2107Ser)
c.5658G>T (p.Arg1886Ser)
c.10173G>T (p.Arg3391Ser)
 gnomAD v4 COSMIC
5g.13735321C=CA1528414879DNAH5c.11571G= (p.Arg3857=)
c.11526G= (p.Arg3842=)
c.11679G= (p.Arg3893=)
c.10584G= (p.Arg3528=)
c.*5G= (n.*5G=)
c.6768G= (p.Arg2256=)
c.6321G= (p.Arg2107=)
c.5658G= (p.Arg1886=)
c.10173G= (p.Arg3391=)
5g.13735321C>GCA359223775DNAH5c.11571G>C (p.Arg3857Ser)
c.11526G>C (p.Arg3842Ser)
c.11679G>C (p.Arg3893Ser)
c.10584G>C (p.Arg3528Ser)
c.*5G>C (n.*5G>C)
c.6768G>C (p.Arg2256Ser)
c.6321G>C (p.Arg2107Ser)
c.5658G>C (p.Arg1886Ser)
c.10173G>C (p.Arg3391Ser)
5g.13735321C>TCA3201903DNAH5c.11571G>A (p.Arg3857=)
c.11526G>A (p.Arg3842=)
c.11679G>A (p.Arg3893=)
c.10584G>A (p.Arg3528=)
c.*5G>A (n.*5G>A)
c.6768G>A (p.Arg2256=)
c.6321G>A (p.Arg2107=)
c.5658G>A (p.Arg1886=)
c.10173G>A (p.Arg3391=)
 dbSNP ExAC gnomAD v2
5g.13735322C>ACA359223779DNAH5c.11571-1G>T (n.11571-1G>T)
c.11526-1G>T (n.11526-1G>T)
c.11679-1G>T (n.11679-1G>T)
c.10584-1G>T (n.10584-1G>T)
c.*5-1G>T (n.*5-1G>T)
c.6768-1G>T (n.6768-1G>T)
c.6321-1G>T (n.6321-1G>T)
c.5658-1G>T (n.5658-1G>T)
c.10173-1G>T (n.10173-1G>T)
5g.13735322C=CA1528414880DNAH5c.11571-1G= (n.11571-1G=)
c.11526-1G= (n.11526-1G=)
c.11679-1G= (n.11679-1G=)
c.10584-1G= (n.10584-1G=)
c.*5-1G= (n.*5-1G=)
c.6768-1G= (n.6768-1G=)
c.6321-1G= (n.6321-1G=)
c.5658-1G= (n.5658-1G=)
c.10173-1G= (n.10173-1G=)
5g.13735322C>GCA359223780DNAH5c.11571-1G>C (n.11571-1G>C)
c.11526-1G>C (n.11526-1G>C)
c.11679-1G>C (n.11679-1G>C)
c.10584-1G>C (n.10584-1G>C)
c.*5-1G>C (n.*5-1G>C)
c.6768-1G>C (n.6768-1G>C)
c.6321-1G>C (n.6321-1G>C)
c.5658-1G>C (n.5658-1G>C)
c.10173-1G>C (n.10173-1G>C)
 dbSNP gnomAD v2 gnomAD v4
5g.13735322C>TCA359223783DNAH5c.11571-1G>A (n.11571-1G>A)
c.11526-1G>A (n.11526-1G>A)
c.11679-1G>A (n.11679-1G>A)
c.10584-1G>A (n.10584-1G>A)
c.*5-1G>A (n.*5-1G>A)
c.6768-1G>A (n.6768-1G>A)
c.6321-1G>A (n.6321-1G>A)
c.5658-1G>A (n.5658-1G>A)
c.10173-1G>A (n.10173-1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched