Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47221753C>ACA400022309MYL4c.385C>A (p.Gln129Lys)
c.96C>A
c.*171C>A (n.*171C>A)
c.478C>A (p.Gln160Lys)
c.335C>A (p.Ala112Glu)
c.175C>A (p.Gln59Lys)
17g.47221753C>GCA400022310MYL4c.385C>G (p.Gln129Glu)
c.96C>G
c.*171C>G (n.*171C>G)
c.478C>G (p.Gln160Glu)
c.335C>G (p.Ala112Gly)
c.175C>G (p.Gln59Glu)
17g.47221753C>TCA400022311MYL4c.385C>T (p.Gln129Ter)
c.96C>T
c.*171C>T (n.*171C>T)
c.478C>T (p.Gln160Ter)
c.335C>T (p.Ala112Val)
c.175C>T (p.Gln59Ter)
17g.47221754A=CA2262577611MYL4c.386A= (p.Gln129=)
c.97A=
c.*172A= (n.*172A=)
c.479A= (p.Gln160=)
c.336A= (p.Ala112=)
c.176A= (p.Gln59=)
17g.47221754A>CCA400022312MYL4c.386A>C (p.Gln129Pro)
c.97A>C
c.*172A>C (n.*172A>C)
c.479A>C (p.Gln160Pro)
c.336A>C (p.Ala112=)
c.176A>C (p.Gln59Pro)
17g.47221754A>GCA400022313MYL4c.386A>G (p.Gln129Arg)
c.97A>G
c.*172A>G (n.*172A>G)
c.479A>G (p.Gln160Arg)
c.336A>G (p.Ala112=)
c.176A>G (p.Gln59Arg)
dbSNP gnomAD v2 gnomAD v4
17g.47221754A>TCA400022314MYL4c.386A>T (p.Gln129Leu)
c.97A>T
c.*172A>T (n.*172A>T)
c.479A>T (p.Gln160Leu)
c.336A>T (p.Ala112=)
c.176A>T (p.Gln59Leu)
17g.47221755G>ACA500433888MYL4c.387G>A (p.Gln129=)
c.98G>A
c.*173G>A (n.*173G>A)
c.480G>A (p.Gln160=)
c.337G>A (p.Gly113Arg)
c.177G>A (p.Gln59=)
COSMIC
17g.47221755G>CCA400022315MYL4c.387G>C (p.Gln129His)
c.98G>C
c.*173G>C (n.*173G>C)
c.480G>C (p.Gln160His)
c.337G>C (p.Gly113Arg)
c.177G>C (p.Gln59His)
17g.47221755G>TCA400022316MYL4c.387G>T (p.Gln129His)
c.98G>T
c.*173G>T (n.*173G>T)
c.480G>T (p.Gln160His)
c.337G>T (p.Gly113Trp)
c.177G>T (p.Gln59His)
17g.47221756G>ACA400022319MYL4c.388G>A (p.Gly130Ser)
c.99G>A
c.*174G>A (n.*174G>A)
c.481G>A (p.Gly161Ser)
c.338G>A (p.Gly113Glu)
c.178G>A (p.Gly60Ser)
gnomAD v4
17g.47221756G>CCA400022318MYL4c.388G>C (p.Gly130Arg)
c.99G>C
c.*174G>C (n.*174G>C)
c.481G>C (p.Gly161Arg)
c.338G>C (p.Gly113Ala)
c.178G>C (p.Gly60Arg)
17g.47221756G>TCA400022317MYL4c.388G>T (p.Gly130Cys)
c.99G>T
c.*174G>T (n.*174G>T)
c.481G>T (p.Gly161Cys)
c.338G>T (p.Gly113Val)
c.178G>T (p.Gly60Cys)
17g.47221757G>ACA400022320MYL4c.389G>A (p.Gly130Asp)
c.100G>A
c.*175G>A (n.*175G>A)
c.482G>A (p.Gly161Asp)
c.339G>A (p.Gly113=)
c.179G>A (p.Gly60Asp)
17g.47221757G>CCA400022321MYL4c.389G>C (p.Gly130Ala)
c.100G>C
c.*175G>C (n.*175G>C)
c.482G>C (p.Gly161Ala)
c.339G>C (p.Gly113=)
c.179G>C (p.Gly60Ala)
17g.47221757G>TCA400022322MYL4c.389G>T (p.Gly130Val)
c.100G>T
c.*175G>T (n.*175G>T)
c.482G>T (p.Gly161Val)
c.339G>T (p.Gly113=)
c.179G>T (p.Gly60Val)
17g.47221758C>ACA500433893MYL4c.390C>A (p.Gly130=)
c.101C>A
c.*176C>A (n.*176C>A)
c.483C>A (p.Gly161=)
c.340C>A (p.His114Asn)
c.180C>A (p.Gly60=)
17g.47221758C>GCA500433894MYL4c.390C>G (p.Gly130=)
c.101C>G
c.*176C>G (n.*176C>G)
c.483C>G (p.Gly161=)
c.340C>G (p.His114Asp)
c.180C>G (p.Gly60=)
17g.47221758C>TCA500433892MYL4c.390C>T (p.Gly130=)
c.101C>T
c.*176C>T (n.*176C>T)
c.483C>T (p.Gly161=)
c.340C>T (p.His114Tyr)
c.180C>T (p.Gly60=)
17g.47221759A>CCA400022323MYL4c.391A>C (p.Thr131Pro)
c.102A>C
c.*177A>C (n.*177A>C)
c.484A>C (p.Thr162Pro)
c.341A>C (p.His114Pro)
c.181A>C (p.Thr61Pro)
17g.47221759A>GCA400022324MYL4c.391A>G (p.Thr131Ala)
c.102A>G
c.*177A>G (n.*177A>G)
c.484A>G (p.Thr162Ala)
c.341A>G (p.His114Arg)
c.181A>G (p.Thr61Ala)
gnomAD v4
17g.47221759A>TCA400022325MYL4c.391A>T (p.Thr131Ser)
c.102A>T
c.*177A>T (n.*177A>T)
c.484A>T (p.Thr162Ser)
c.341A>T (p.His114Leu)
c.181A>T (p.Thr61Ser)
17g.47221760C>ACA400022326MYL4c.392C>A (p.Thr131Asn)
c.103C>A
c.*178C>A (n.*178C>A)
c.485C>A (p.Thr162Asn)
c.342C>A (p.His114Gln)
c.182C>A (p.Thr61Asn)
gnomAD v4
17g.47221760C>GCA400022327MYL4c.392C>G (p.Thr131Ser)
c.103C>G
c.*178C>G (n.*178C>G)
c.485C>G (p.Thr162Ser)
c.342C>G (p.His114Gln)
c.182C>G (p.Thr61Ser)
gnomAD v4
17g.47221760C>TCA400022328MYL4c.392C>T (p.Thr131Ile)
c.103C>T
c.*178C>T (n.*178C>T)
c.485C>T (p.Thr162Ile)
c.342C>T (p.His114=)
c.182C>T (p.Thr61Ile)
ClinVar dbSNP gnomAD v4
17g.47221761C>ACA500433899MYL4c.393C>A (p.Thr131=)
c.104C>A
c.*179C>A (n.*179C>A)
c.486C>A (p.Thr162=)
c.343C>A (p.Leu115Ile)
c.183C>A (p.Thr61=)
dbSNP gnomAD v4
17g.47221761C=CA2262577612MYL4c.393C= (p.Thr131=)
c.104C=
c.*179C= (n.*179C=)
c.486C= (p.Thr162=)
c.343C= (p.Leu115=)
c.183C= (p.Thr61=)
17g.47221761C>GCA500433896MYL4c.393C>G (p.Thr131=)
c.104C>G
c.*179C>G (n.*179C>G)
c.486C>G (p.Thr162=)
c.343C>G (p.Leu115Val)
c.183C>G (p.Thr61=)
17g.47221761C>TCA500433897MYL4c.393C>T (p.Thr131=)
c.104C>T
c.*179C>T (n.*179C>T)
c.486C>T (p.Thr162=)
c.343C>T (p.Leu115=)
c.183C>T (p.Thr61=)
gnomAD v4
17g.47221762T>ACA400022329MYL4c.394T>A (p.Tyr132Asn)
c.105T>A
c.*180T>A (n.*180T>A)
c.487T>A (p.Tyr163Asn)
c.344T>A (p.Leu115Gln)
c.184T>A (p.Tyr62Asn)
gnomAD v4
17g.47221762T>CCA400022332MYL4c.394T>C (p.Tyr132His)
c.105T>C
c.*180T>C (n.*180T>C)
c.487T>C (p.Tyr163His)
c.344T>C (p.Leu115Pro)
c.184T>C (p.Tyr62His)
17g.47221762T>GCA400022334MYL4c.394T>G (p.Tyr132Asp)
c.105T>G
c.*180T>G (n.*180T>G)
c.487T>G (p.Tyr163Asp)
c.344T>G (p.Leu115Arg)
c.184T>G (p.Tyr62Asp)
17g.47221763A=CA2262577613MYL4c.395A= (p.Tyr132=)
c.106A=
c.*181A= (n.*181A=)
c.488A= (p.Tyr163=)
c.345A= (p.Leu115=)
c.185A= (p.Tyr62=)
17g.47221763A>CCA400022339MYL4c.395A>C (p.Tyr132Ser)
c.106A>C
c.*181A>C (n.*181A>C)
c.488A>C (p.Tyr163Ser)
c.345A>C (p.Leu115=)
c.185A>C (p.Tyr62Ser)
17g.47221763A>GCA400022337MYL4c.395A>G (p.Tyr132Cys)
c.106A>G
c.*181A>G (n.*181A>G)
c.488A>G (p.Tyr163Cys)
c.345A>G (p.Leu115=)
c.185A>G (p.Tyr62Cys)
17g.47221763A>TCA8622734MYL4c.395A>T (p.Tyr132Phe)
c.106A>T
c.*181A>T (n.*181A>T)
c.488A>T (p.Tyr163Phe)
c.345A>T (p.Leu115=)
c.185A>T (p.Tyr62Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221764T>ACA400022341MYL4c.396T>A (p.Tyr132Ter)
c.107T>A
c.*182T>A (n.*182T>A)
c.489T>A (p.Tyr163Ter)
c.346T>A (p.Ter116Arg)
c.186T>A (p.Tyr62Ter)
17g.47221764T>CCA8622735MYL4c.396T>C (p.Tyr132=)
c.107T>C
c.*182T>C (n.*182T>C)
c.489T>C (p.Tyr163=)
c.346T>C (p.Ter116Arg)
c.186T>C (p.Tyr62=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221764T>GCA400022343MYL4c.396T>G (p.Tyr132Ter)
c.107T>G
c.*182T>G (n.*182T>G)
c.489T>G (p.Tyr163Ter)
c.346T>G (p.Ter116Gly)
c.186T>G (p.Tyr62Ter)
17g.47221764T=CA2262577614MYL4c.396T= (p.Tyr132=)
c.107T=
c.*182T= (n.*182T=)
c.489T= (p.Tyr163=)
c.346T= (p.Ter116=)
c.186T= (p.Tyr62=)
17g.47221765G>ACA400022347MYL4c.397G>A (p.Glu133Lys)
c.108G>A
c.*183G>A (n.*183G>A)
c.490G>A (p.Glu164Lys)
c.347G>A (p.Ter116=)
c.187G>A (p.Glu63Lys)
17g.47221765G>CCA400022349MYL4c.397G>C (p.Glu133Gln)
c.108G>C
c.*183G>C (n.*183G>C)
c.490G>C (p.Glu164Gln)
c.347G>C (p.Ter116Ser)
c.187G>C (p.Glu63Gln)
17g.47221765G>TCA400022350MYL4c.397G>T (p.Glu133Ter)
c.108G>T
c.*183G>T (n.*183G>T)
c.490G>T (p.Glu164Ter)
c.347G>T (p.Ter116Leu)
c.187G>T (p.Glu63Ter)
17g.47221766A>CCA400022354MYL4c.398A>C (p.Glu133Ala)
c.109A>C
c.*184A>C (n.*184A>C)
c.491A>C (p.Glu164Ala)
c.348A>C (p.Ter116Cys)
c.188A>C (p.Glu63Ala)
17g.47221766A>GCA400022356MYL4c.398A>G (p.Glu133Gly)
c.109A>G
c.*184A>G (n.*184A>G)
c.491A>G (p.Glu164Gly)
c.348A>G (p.Ter116Trp)
c.188A>G (p.Glu63Gly)
17g.47221766A>TCA400022357MYL4c.398A>T (p.Glu133Val)
c.109A>T
c.*184A>T (n.*184A>T)
c.491A>T (p.Glu164Val)
c.348A>T (p.Ter116Cys)
c.188A>T (p.Glu63Val)
17g.47221767G>ACA500433905MYL4c.399G>A (p.Glu133=)
c.110G>A
c.*185G>A (n.*185G>A)
c.492G>A (p.Glu164=)
c.*1G>A (n.*1G>A)
c.189G>A (p.Glu63=)
gnomAD v4
17g.47221767G>CCA400022359MYL4c.399G>C (p.Glu133Asp)
c.110G>C
c.*185G>C (n.*185G>C)
c.492G>C (p.Glu164Asp)
c.*1G>C (n.*1G>C)
c.189G>C (p.Glu63Asp)
17g.47221767G>TCA400022361MYL4c.399G>T (p.Glu133Asp)
c.110G>T
c.*185G>T (n.*185G>T)
c.492G>T (p.Glu164Asp)
c.*1G>T (n.*1G>T)
c.189G>T (p.Glu63Asp)
17g.47221768G>ACA400022363MYL4c.400G>A (p.Asp134Asn)
c.111G>A
c.*186G>A (n.*186G>A)
c.493G>A (p.Asp165Asn)
c.*2G>A (n.*2G>A)
c.190G>A (p.Asp64Asn)
17g.47221768G>CCA400022365MYL4c.400G>C (p.Asp134His)
c.111G>C
c.*186G>C (n.*186G>C)
c.493G>C (p.Asp165His)
c.*2G>C (n.*2G>C)
c.190G>C (p.Asp64His)
17g.47221768G>TCA400022367MYL4c.400G>T (p.Asp134Tyr)
c.111G>T
c.*186G>T (n.*186G>T)
c.493G>T (p.Asp165Tyr)
c.*2G>T (n.*2G>T)
c.190G>T (p.Asp64Tyr)
17g.47221769A>CCA400022369MYL4c.401A>C (p.Asp134Ala)
c.112A>C
c.*187A>C (n.*187A>C)
c.494A>C (p.Asp165Ala)
c.*3A>C (n.*3A>C)
c.191A>C (p.Asp64Ala)
17g.47221769A>GCA400022371MYL4c.401A>G (p.Asp134Gly)
c.112A>G
c.*187A>G (n.*187A>G)
c.494A>G (p.Asp165Gly)
c.*3A>G (n.*3A>G)
c.191A>G (p.Asp64Gly)
17g.47221769A>TCA400022373MYL4c.401A>T (p.Asp134Val)
c.112A>T
c.*187A>T (n.*187A>T)
c.494A>T (p.Asp165Val)
c.*3A>T (n.*3A>T)
c.191A>T (p.Asp64Val)
17g.47221770C>ACA400022376MYL4c.402C>A (p.Asp134Glu)
c.113C>A
c.*188C>A (n.*188C>A)
c.495C>A (p.Asp165Glu)
c.*4C>A (n.*4C>A)
c.192C>A (p.Asp64Glu)
17g.47221770C=CA2262577615MYL4c.402C= (p.Asp134=)
c.113C=
c.*188C= (n.*188C=)
c.495C= (p.Asp165=)
c.*4C= (n.*4C=)
c.192C= (p.Asp64=)
17g.47221770C>GCA400022377MYL4c.402C>G (p.Asp134Glu)
c.113C>G
c.*188C>G (n.*188C>G)
c.495C>G (p.Asp165Glu)
c.*4C>G (n.*4C>G)
c.192C>G (p.Asp64Glu)
17g.47221770C>TCA500433909MYL4c.402C>T (p.Asp134=)
c.113C>T
c.*188C>T (n.*188C>T)
c.495C>T (p.Asp165=)
c.*4C>T (n.*4C>T)
c.192C>T (p.Asp64=)
dbSNP gnomAD v2 gnomAD v4
17g.47221771T>ACA400022380MYL4c.403T>A (p.Phe135Ile)
c.114T>A
c.*189T>A (n.*189T>A)
c.496T>A (p.Phe166Ile)
c.*5T>A (n.*5T>A)
c.193T>A (p.Phe65Ile)
dbSNP gnomAD v2 gnomAD v4
17g.47221771T>CCA400022382MYL4c.403T>C (p.Phe135Leu)
c.114T>C
c.*189T>C (n.*189T>C)
c.496T>C (p.Phe166Leu)
c.*5T>C (n.*5T>C)
c.193T>C (p.Phe65Leu)
17g.47221771T>GCA400022384MYL4c.403T>G (p.Phe135Val)
c.114T>G
c.*189T>G (n.*189T>G)
c.496T>G (p.Phe166Val)
c.*5T>G (n.*5T>G)
c.193T>G (p.Phe65Val)
17g.47221771T=CA2262577616MYL4c.403T= (p.Phe135=)
c.114T=
c.*189T= (n.*189T=)
c.496T= (p.Phe166=)
c.*5T= (n.*5T=)
c.193T= (p.Phe65=)
17g.47221772T>ACA400022386MYL4c.404T>A (p.Phe135Tyr)
c.115T>A
c.*190T>A (n.*190T>A)
c.497T>A (p.Phe166Tyr)
c.*6T>A (n.*6T>A)
c.194T>A (p.Phe65Tyr)
17g.47221772T>CCA400022388MYL4c.404T>C (p.Phe135Ser)
c.115T>C
c.*190T>C (n.*190T>C)
c.497T>C (p.Phe166Ser)
c.*6T>C (n.*6T>C)
c.194T>C (p.Phe65Ser)
17g.47221772T>GCA400022391MYL4c.404T>G (p.Phe135Cys)
c.115T>G
c.*190T>G (n.*190T>G)
c.497T>G (p.Phe166Cys)
c.*6T>G (n.*6T>G)
c.194T>G (p.Phe65Cys)
17g.47221773C>ACA291225741MYL4c.405C>A (p.Phe135Leu)
c.116C>A
c.*191C>A (n.*191C>A)
c.498C>A (p.Phe166Leu)
c.*7C>A (n.*7C>A)
c.195C>A (p.Phe65Leu)
dbSNP
17g.47221773C=CA2262577617MYL4c.405C= (p.Phe135=)
c.116C=
c.*191C= (n.*191C=)
c.498C= (p.Phe166=)
c.*7C= (n.*7C=)
c.195C= (p.Phe65=)
17g.47221773C>GCA400022394MYL4c.405C>G (p.Phe135Leu)
c.116C>G
c.*191C>G (n.*191C>G)
c.498C>G (p.Phe166Leu)
c.*7C>G (n.*7C>G)
c.195C>G (p.Phe65Leu)
17g.47221773C>TCA8622736MYL4c.405C>T (p.Phe135=)
c.116C>T
c.*191C>T (n.*191C>T)
c.498C>T (p.Phe166=)
c.*7C>T (n.*7C>T)
c.195C>T (p.Phe65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221774G>ACA8622737MYL4c.406G>A (p.Val136Met)
c.117G>A
c.*192G>A (n.*192G>A)
c.499G>A (p.Val167Met)
c.*8G>A (n.*8G>A)
c.196G>A (p.Val66Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47221774G>CCA400022398MYL4c.406G>C (p.Val136Leu)
c.117G>C
c.*192G>C (n.*192G>C)
c.499G>C (p.Val167Leu)
c.*8G>C (n.*8G>C)
c.196G>C (p.Val66Leu)
dbSNP
17g.47221774G=CA2262577618MYL4c.406G= (p.Val136=)
c.117G=
c.*192G= (n.*192G=)
c.499G= (p.Val167=)
c.*8G= (n.*8G=)
c.196G= (p.Val66=)
17g.47221774G>TCA400022400MYL4c.406G>T (p.Val136Leu)
c.117G>T
c.*192G>T (n.*192G>T)
c.499G>T (p.Val167Leu)
c.*8G>T (n.*8G>T)
c.196G>T (p.Val66Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221775T>ACA400022403MYL4c.407T>A (p.Val136Glu)
c.118T>A
c.*193T>A (n.*193T>A)
c.500T>A (p.Val167Glu)
c.*9T>A (n.*9T>A)
c.197T>A (p.Val66Glu)
17g.47221775T>CCA400022406MYL4c.407T>C (p.Val136Ala)
c.118T>C
c.*193T>C (n.*193T>C)
c.500T>C (p.Val167Ala)
c.*9T>C (n.*9T>C)
c.197T>C (p.Val66Ala)
gnomAD v4
17g.47221775T>GCA400022405MYL4c.407T>G (p.Val136Gly)
c.118T>G
c.*193T>G (n.*193T>G)
c.500T>G (p.Val167Gly)
c.*9T>G (n.*9T>G)
c.197T>G (p.Val66Gly)
17g.47221776G>ACA500433922MYL4c.408G>A (p.Val136=)
c.119G>A
c.*194G>A (n.*194G>A)
c.501G>A (p.Val167=)
c.*10G>A (n.*10G>A)
c.198G>A (p.Val66=)
17g.47221776G>CCA500433923MYL4c.408G>C (p.Val136=)
c.119G>C
c.*194G>C (n.*194G>C)
c.501G>C (p.Val167=)
c.*10G>C (n.*10G>C)
c.198G>C (p.Val66=)
17g.47221776G>TCA500433924MYL4c.408G>T (p.Val136=)
c.119G>T
c.*194G>T (n.*194G>T)
c.501G>T (p.Val167=)
c.*10G>T (n.*10G>T)
c.198G>T (p.Val66=)
17g.47221777G>ACA400022409MYL4c.409G>A (p.Glu137Lys)
c.120G>A
c.*195G>A (n.*195G>A)
c.502G>A (p.Glu168Lys)
c.*11G>A (n.*11G>A)
c.199G>A (p.Glu67Lys)
17g.47221777G>CCA400022411MYL4c.409G>C (p.Glu137Gln)
c.120G>C
c.*195G>C (n.*195G>C)
c.502G>C (p.Glu168Gln)
c.*11G>C (n.*11G>C)
c.199G>C (p.Glu67Gln)
17g.47221777G>TCA400022413MYL4c.409G>T (p.Glu137Ter)
c.120G>T
c.*195G>T (n.*195G>T)
c.502G>T (p.Glu168Ter)
c.*11G>T (n.*11G>T)
c.199G>T (p.Glu67Ter)
17g.47221778A>CCA400022415MYL4c.410A>C (p.Glu137Ala)
c.121A>C
c.*196A>C (n.*196A>C)
c.503A>C (p.Glu168Ala)
c.*12A>C (n.*12A>C)
c.200A>C (p.Glu67Ala)
17g.47221778A>GCA400022418MYL4c.410A>G (p.Glu137Gly)
c.121A>G
c.*196A>G (n.*196A>G)
c.503A>G (p.Glu168Gly)
c.*12A>G (n.*12A>G)
c.200A>G (p.Glu67Gly)
17g.47221778A>TCA400022420MYL4c.410A>T (p.Glu137Val)
c.121A>T
c.*196A>T (n.*196A>T)
c.503A>T (p.Glu168Val)
c.*12A>T (n.*12A>T)
c.200A>T (p.Glu67Val)
17g.47221779G>ACA500433930MYL4c.411G>A (p.Glu137=)
c.122G>A
c.*197G>A (n.*197G>A)
c.504G>A (p.Glu168=)
c.*13G>A (n.*13G>A)
c.201G>A (p.Glu67=)
17g.47221779G>CCA400022422MYL4c.411G>C (p.Glu137Asp)
c.122G>C
c.*197G>C (n.*197G>C)
c.504G>C (p.Glu168Asp)
c.*13G>C (n.*13G>C)
c.201G>C (p.Glu67Asp)
17g.47221779G>TCA400022424MYL4c.411G>T (p.Glu137Asp)
c.122G>T
c.*197G>T (n.*197G>T)
c.504G>T (p.Glu168Asp)
c.*13G>T (n.*13G>T)
c.201G>T (p.Glu67Asp)
17g.47221780G>ACA400022426MYL4c.412G>A (p.Gly138Ser)
c.123G>A
c.*198G>A (n.*198G>A)
c.505G>A (p.Gly169Ser)
c.*14G>A (n.*14G>A)
c.202G>A (p.Gly68Ser)
17g.47221780G>CCA400022428MYL4c.412G>C (p.Gly138Arg)
c.123G>C
c.*198G>C (n.*198G>C)
c.505G>C (p.Gly169Arg)
c.*14G>C (n.*14G>C)
c.202G>C (p.Gly68Arg)
17g.47221780G>TCA400022430MYL4c.412G>T (p.Gly138Cys)
c.123G>T
c.*198G>T (n.*198G>T)
c.505G>T (p.Gly169Cys)
c.*14G>T (n.*14G>T)
c.202G>T (p.Gly68Cys)
17g.47221781G>ACA400022436MYL4c.413G>A (p.Gly138Asp)
c.124G>A
c.*199G>A (n.*199G>A)
c.506G>A (p.Gly169Asp)
c.*15G>A (n.*15G>A)
c.203G>A (p.Gly68Asp)
gnomAD v4
17g.47221781G>CCA400022435MYL4c.413G>C (p.Gly138Ala)
c.124G>C
c.*199G>C (n.*199G>C)
c.506G>C (p.Gly169Ala)
c.*15G>C (n.*15G>C)
c.203G>C (p.Gly68Ala)
17g.47221781G>TCA400022433MYL4c.413G>T (p.Gly138Val)
c.124G>T
c.*199G>T (n.*199G>T)
c.506G>T (p.Gly169Val)
c.*15G>T (n.*15G>T)
c.203G>T (p.Gly68Val)
17g.47221782C>ACA500433943MYL4c.414C>A (p.Gly138=)
c.125C>A
c.*200C>A (n.*200C>A)
c.507C>A (p.Gly169=)
c.*16C>A (n.*16C>A)
c.204C>A (p.Gly68=)
17g.47221782C=CA2262577619MYL4c.414C= (p.Gly138=)
c.125C=
c.*200C= (n.*200C=)
c.507C= (p.Gly169=)
c.*16C= (n.*16C=)
c.204C= (p.Gly68=)
17g.47221782C>GCA500433941MYL4c.414C>G (p.Gly138=)
c.125C>G
c.*200C>G (n.*200C>G)
c.507C>G (p.Gly169=)
c.*16C>G (n.*16C>G)
c.204C>G (p.Gly68=)
17g.47221782C>TCA291225744MYL4c.414C>T (p.Gly138=)
c.125C>T
c.*200C>T (n.*200C>T)
c.507C>T (p.Gly169=)
c.*16C>T (n.*16C>T)
c.204C>T (p.Gly68=)
dbSNP gnomAD v4 COSMIC
17g.47221783C>ACA400022438MYL4c.415C>A (p.Leu139Met)
c.126C>A
c.*201C>A (n.*201C>A)
c.508C>A (p.Leu170Met)
c.*17C>A (n.*17C>A)
c.205C>A (p.Leu69Met)
17g.47221783C=CA2262577620MYL4c.415C= (p.Leu139=)
c.126C=
c.*201C= (n.*201C=)
c.508C= (p.Leu170=)
c.*17C= (n.*17C=)
c.205C= (p.Leu69=)
17g.47221783C>GCA400022440MYL4c.415C>G (p.Leu139Val)
c.126C>G
c.*201C>G (n.*201C>G)
c.508C>G (p.Leu170Val)
c.*17C>G (n.*17C>G)
c.205C>G (p.Leu69Val)
17g.47221783C>TCA500433944MYL4c.415C>T (p.Leu139=)
c.126C>T
c.*201C>T (n.*201C>T)
c.508C>T (p.Leu170=)
c.*17C>T (n.*17C>T)
c.205C>T (p.Leu69=)
dbSNP
17g.47221784T>ACA400022442MYL4c.416T>A (p.Leu139Gln)
c.127T>A
c.*202T>A (n.*202T>A)
c.509T>A (p.Leu170Gln)
c.*18T>A (n.*18T>A)
c.206T>A (p.Leu69Gln)
17g.47221784T>CCA400022444MYL4c.416T>C (p.Leu139Pro)
c.127T>C
c.*202T>C (n.*202T>C)
c.509T>C (p.Leu170Pro)
c.*18T>C (n.*18T>C)
c.206T>C (p.Leu69Pro)
dbSNP
17g.47221784T>GCA400022446MYL4c.416T>G (p.Leu139Arg)
c.127T>G
c.*202T>G (n.*202T>G)
c.509T>G (p.Leu170Arg)
c.*18T>G (n.*18T>G)
c.206T>G (p.Leu69Arg)
17g.47221784T=CA2262577621MYL4c.416T= (p.Leu139=)
c.127T=
c.*202T= (n.*202T=)
c.509T= (p.Leu170=)
c.*18T= (n.*18T=)
c.206T= (p.Leu69=)
17g.47221785G>ACA500433952MYL4c.417G>A (p.Leu139=)
c.128G>A
c.*203G>A (n.*203G>A)
c.510G>A (p.Leu170=)
c.*19G>A (n.*19G>A)
c.207G>A (p.Leu69=)
17g.47221785G>CCA500433951MYL4c.417G>C (p.Leu139=)
c.128G>C
c.*203G>C (n.*203G>C)
c.510G>C (p.Leu170=)
c.*19G>C (n.*19G>C)
c.207G>C (p.Leu69=)
17g.47221785G>TCA500433953MYL4c.417G>T (p.Leu139=)
c.128G>T
c.*203G>T (n.*203G>T)
c.510G>T (p.Leu170=)
c.*19G>T (n.*19G>T)
c.207G>T (p.Leu69=)
17g.47221785_47221787dupCA2638433047MYL4c.417_419dup (p.Arg140_Val141insArg)
c.128_130dup
c.*203_*205dup (n.*203_*205dup)
c.510_512dup (p.Arg171_Val172insArg)
c.*19_*21dup (n.*19_*21dup)
c.207_209dup (p.Arg70_Val71insArg)
gnomAD v4
17g.47221786C>ACA400022449MYL4c.418C>A (p.Arg140Ser)
c.129C>A
c.*204C>A (n.*204C>A)
c.511C>A (p.Arg171Ser)
c.*20C>A (n.*20C>A)
c.208C>A (p.Arg70Ser)
17g.47221786C=CA2262577622MYL4c.418C= (p.Arg140=)
c.129C=
c.*204C= (n.*204C=)
c.511C= (p.Arg171=)
c.*20C= (n.*20C=)
c.208C= (p.Arg70=)
17g.47221786C>GCA400022451MYL4c.418C>G (p.Arg140Gly)
c.129C>G
c.*204C>G (n.*204C>G)
c.511C>G (p.Arg171Gly)
c.*20C>G (n.*20C>G)
c.208C>G (p.Arg70Gly)
dbSNP
17g.47221786C>TCA8622738MYL4c.418C>T (p.Arg140Cys)
c.129C>T
c.*204C>T (n.*204C>T)
c.511C>T (p.Arg171Cys)
c.*20C>T (n.*20C>T)
c.208C>T (p.Arg70Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221787G>ACA8622739MYL4c.419G>A (p.Arg140His)
c.130G>A
c.*205G>A (n.*205G>A)
c.512G>A (p.Arg171His)
c.*21G>A (n.*21G>A)
c.209G>A (p.Arg70His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.47221787G>CCA400022455MYL4c.419G>C (p.Arg140Pro)
c.130G>C
c.*205G>C (n.*205G>C)
c.512G>C (p.Arg171Pro)
c.*21G>C (n.*21G>C)
c.209G>C (p.Arg70Pro)
17g.47221787G=CA2262577623MYL4c.419G= (p.Arg140=)
c.130G=
c.*205G= (n.*205G=)
c.512G= (p.Arg171=)
c.*21G= (n.*21G=)
c.209G= (p.Arg70=)
17g.47221787G>TCA400022457MYL4c.419G>T (p.Arg140Leu)
c.130G>T
c.*205G>T (n.*205G>T)
c.512G>T (p.Arg171Leu)
c.*21G>T (n.*21G>T)
c.209G>T (p.Arg70Leu)
17g.47221788T>ACA500433962MYL4c.420T>A (p.Arg140=)
c.131T>A
c.*206T>A (n.*206T>A)
c.513T>A (p.Arg171=)
c.*22T>A (n.*22T>A)
c.210T>A (p.Arg70=)
17g.47221788T>CCA500433965MYL4c.420T>C (p.Arg140=)
c.131T>C
c.*206T>C (n.*206T>C)
c.513T>C (p.Arg171=)
c.*22T>C (n.*22T>C)
c.210T>C (p.Arg70=)
17g.47221788T>GCA500433963MYL4c.420T>G (p.Arg140=)
c.131T>G
c.*206T>G (n.*206T>G)
c.513T>G (p.Arg171=)
c.*22T>G (n.*22T>G)
c.210T>G (p.Arg70=)
gnomAD v4
17g.47221789G>ACA400022462MYL4c.421G>A (p.Val141Ile)
c.132G>A
c.*207G>A (n.*207G>A)
c.514G>A (p.Val172Ile)
c.*23G>A (n.*23G>A)
c.211G>A (p.Val71Ile)
17g.47221789G>CCA400022464MYL4c.421G>C (p.Val141Leu)
c.132G>C
c.*207G>C (n.*207G>C)
c.514G>C (p.Val172Leu)
c.*23G>C (n.*23G>C)
c.211G>C (p.Val71Leu)
17g.47221789G>TCA400022460MYL4c.421G>T (p.Val141Phe)
c.132G>T
c.*207G>T (n.*207G>T)
c.514G>T (p.Val172Phe)
c.*23G>T (n.*23G>T)
c.211G>T (p.Val71Phe)
17g.47221790T>ACA400022470MYL4c.422T>A (p.Val141Asp)
c.133T>A
c.*208T>A (n.*208T>A)
c.515T>A (p.Val172Asp)
c.*24T>A (n.*24T>A)
c.212T>A (p.Val71Asp)
17g.47221790T>CCA400022466MYL4c.422T>C (p.Val141Ala)
c.133T>C
c.*208T>C (n.*208T>C)
c.515T>C (p.Val172Ala)
c.*24T>C (n.*24T>C)
c.212T>C (p.Val71Ala)
17g.47221790T>GCA400022468MYL4c.422T>G (p.Val141Gly)
c.133T>G
c.*208T>G (n.*208T>G)
c.515T>G (p.Val172Gly)
c.*24T>G (n.*24T>G)
c.212T>G (p.Val71Gly)
17g.47221791C>ACA500433970MYL4c.423C>A (p.Val141=)
c.134C>A
c.*209C>A (n.*209C>A)
c.516C>A (p.Val172=)
c.*25C>A (n.*25C>A)
c.213C>A (p.Val71=)
17g.47221791C=CA2262577624MYL4c.423C= (p.Val141=)
c.134C=
c.*209C= (n.*209C=)
c.516C= (p.Val172=)
c.*25C= (n.*25C=)
c.213C= (p.Val71=)
17g.47221791C>GCA500433973MYL4c.423C>G (p.Val141=)
c.134C>G
c.*209C>G (n.*209C>G)
c.516C>G (p.Val172=)
c.*25C>G (n.*25C>G)
c.213C>G (p.Val71=)
dbSNP
17g.47221791C>TCA500433971MYL4c.423C>T (p.Val141=)
c.134C>T
c.*209C>T (n.*209C>T)
c.516C>T (p.Val172=)
c.*25C>T (n.*25C>T)
c.213C>T (p.Val71=)
17g.47221792T>ACA400022472MYL4c.424T>A (p.Phe142Ile)
c.135T>A
c.*210T>A (n.*210T>A)
c.517T>A (p.Phe173Ile)
c.*26T>A (n.*26T>A)
c.214T>A (p.Phe72Ile)
17g.47221792T>CCA400022473MYL4c.424T>C (p.Phe142Leu)
c.135T>C
c.*210T>C (n.*210T>C)
c.517T>C (p.Phe173Leu)
c.*26T>C (n.*26T>C)
c.214T>C (p.Phe72Leu)
17g.47221792T>GCA400022475MYL4c.424T>G (p.Phe142Val)
c.135T>G
c.*210T>G (n.*210T>G)
c.517T>G (p.Phe173Val)
c.*26T>G (n.*26T>G)
c.214T>G (p.Phe72Val)
17g.47221793T>ACA400022477MYL4c.425T>A (p.Phe142Tyr)
c.136T>A
c.*211T>A (n.*211T>A)
c.518T>A (p.Phe173Tyr)
c.*27T>A (n.*27T>A)
c.215T>A (p.Phe72Tyr)
17g.47221793T>CCA400022479MYL4c.425T>C (p.Phe142Ser)
c.136T>C
c.*211T>C (n.*211T>C)
c.518T>C (p.Phe173Ser)
c.*27T>C (n.*27T>C)
c.215T>C (p.Phe72Ser)
17g.47221793T>GCA400022481MYL4c.425T>G (p.Phe142Cys)
c.136T>G
c.*211T>G (n.*211T>G)
c.518T>G (p.Phe173Cys)
c.*27T>G (n.*27T>G)
c.215T>G (p.Phe72Cys)
17g.47221794T>ACA400022483MYL4c.426T>A (p.Phe142Leu)
c.137T>A
c.*212T>A (n.*212T>A)
c.519T>A (p.Phe173Leu)
c.*28T>A (n.*28T>A)
c.216T>A (p.Phe72Leu)
17g.47221794T>CCA500433976MYL4c.426T>C (p.Phe142=)
c.137T>C
c.*212T>C (n.*212T>C)
c.519T>C (p.Phe173=)
c.*28T>C (n.*28T>C)
c.216T>C (p.Phe72=)
17g.47221794T>GCA400022485MYL4c.426T>G (p.Phe142Leu)
c.137T>G
c.*212T>G (n.*212T>G)
c.519T>G (p.Phe173Leu)
c.*28T>G (n.*28T>G)
c.216T>G (p.Phe72Leu)
17g.47221795G>ACA400022488MYL4c.427G>A (p.Asp143Asn)
c.138G>A
c.*213G>A (n.*213G>A)
c.520G>A
c.*29G>A (n.*29G>A)
c.217G>A (p.Asp73Asn)
c.520G>A (p.Asp174Asn)
gnomAD v4
17g.47221795G>CCA400022490MYL4c.427G>C (p.Asp143His)
c.138G>C
c.*213G>C (n.*213G>C)
c.520G>C
c.*29G>C (n.*29G>C)
c.217G>C (p.Asp73His)
c.520G>C (p.Asp174His)
17g.47221795G>TCA400022491MYL4c.427G>T (p.Asp143Tyr)
c.138G>T
c.*213G>T (n.*213G>T)
c.520G>T
c.*29G>T (n.*29G>T)
c.217G>T (p.Asp73Tyr)
c.520G>T (p.Asp174Tyr)
17g.47221796A=CA2262577625MYL4c.428A= (p.Asp143=)
c.139A=
c.*214A= (n.*214A=)
c.521A=
c.*30A= (n.*30A=)
c.218A= (p.Asp73=)
c.521A= (p.Asp174=)
17g.47221796A>CCA400022493MYL4c.428A>C (p.Asp143Ala)
c.139A>C
c.*214A>C (n.*214A>C)
c.521A>C
c.*30A>C (n.*30A>C)
c.218A>C (p.Asp73Ala)
c.521A>C (p.Asp174Ala)
17g.47221796A>GCA291225746MYL4c.428A>G (p.Asp143Gly)
c.139A>G
c.*214A>G (n.*214A>G)
c.521A>G
c.*30A>G (n.*30A>G)
c.218A>G (p.Asp73Gly)
c.521A>G (p.Asp174Gly)
dbSNP
17g.47221796A>TCA400022495MYL4c.428A>T (p.Asp143Val)
c.139A>T
c.*214A>T (n.*214A>T)
c.521A>T
c.*30A>T (n.*30A>T)
c.218A>T (p.Asp73Val)
c.521A>T (p.Asp174Val)
17g.47221797C>ACA400022497MYL4c.429C>A (p.Asp143Glu)
c.140C>A
c.*215C>A (n.*215C>A)
c.*31C>A (n.*31C>A)
c.219C>A (p.Asp73Glu)
c.522C>A (p.Asp174Glu)
17g.47221797C=CA2262577626MYL4c.429C= (p.Asp143=)
c.140C=
c.*215C= (n.*215C=)
c.*31C= (n.*31C=)
c.219C= (p.Asp73=)
c.522C= (p.Asp174=)
17g.47221797C>GCA400022499MYL4c.429C>G (p.Asp143Glu)
c.140C>G
c.*215C>G (n.*215C>G)
c.*31C>G (n.*31C>G)
c.219C>G (p.Asp73Glu)
c.522C>G (p.Asp174Glu)
17g.47221797C>TCA8622740MYL4c.429C>T (p.Asp143=)
c.140C>T
c.*215C>T (n.*215C>T)
c.*31C>T (n.*31C>T)
c.219C>T (p.Asp73=)
c.522C>T (p.Asp174=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221798A=CA2262577627MYL4c.430A= (p.Lys144=)
c.141A=
c.*216A= (n.*216A=)
c.*32A= (n.*32A=)
c.220A= (p.Lys74=)
c.523A= (p.Lys175=)
17g.47221798A>CCA400022501MYL4c.430A>C (p.Lys144Gln)
c.141A>C
c.*216A>C (n.*216A>C)
c.*32A>C (n.*32A>C)
c.220A>C (p.Lys74Gln)
c.523A>C (p.Lys175Gln)
17g.47221798A>GCA400022503MYL4c.430A>G (p.Lys144Glu)
c.141A>G
c.*216A>G (n.*216A>G)
c.*32A>G (n.*32A>G)
c.220A>G (p.Lys74Glu)
c.523A>G (p.Lys175Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221798A>TCA400022505MYL4c.430A>T (p.Lys144Ter)
c.141A>T
c.*216A>T (n.*216A>T)
c.*32A>T (n.*32A>T)
c.220A>T (p.Lys74Ter)
c.523A>T (p.Lys175Ter)
17g.47221799A>CCA400022507MYL4c.431A>C (p.Lys144Thr)
c.142A>C
c.*217A>C (n.*217A>C)
c.*33A>C (n.*33A>C)
c.221A>C (p.Lys74Thr)
c.524A>C (p.Lys175Thr)
17g.47221799A>GCA400022509MYL4c.431A>G (p.Lys144Arg)
c.142A>G
c.*217A>G (n.*217A>G)
c.*33A>G (n.*33A>G)
c.221A>G (p.Lys74Arg)
c.524A>G (p.Lys175Arg)
17g.47221799A>TCA400022511MYL4c.431A>T (p.Lys144Met)
c.142A>T
c.*217A>T (n.*217A>T)
c.*33A>T (n.*33A>T)
c.221A>T (p.Lys74Met)
c.524A>T (p.Lys175Met)
17g.47221800G>ACA500433993MYL4c.432G>A (p.Lys144=)
c.143G>A
c.*218G>A (n.*218G>A)
c.*34G>A (n.*34G>A)
c.222G>A (p.Lys74=)
c.525G>A (p.Lys175=)
17g.47221800G>CCA400022512MYL4c.432G>C (p.Lys144Asn)
c.143G>C
c.*218G>C (n.*218G>C)
c.*34G>C (n.*34G>C)
c.222G>C (p.Lys74Asn)
c.525G>C (p.Lys175Asn)
17g.47221800G>TCA400022514MYL4c.432G>T (p.Lys144Asn)
c.143G>T
c.*218G>T (n.*218G>T)
c.*34G>T (n.*34G>T)
c.222G>T (p.Lys74Asn)
c.525G>T (p.Lys175Asn)
17g.47221801G>ACA400022517MYL4c.433G>A (p.Glu145Lys)
c.144G>A
c.*219G>A (n.*219G>A)
c.*35G>A (n.*35G>A)
c.223G>A (p.Glu75Lys)
c.526G>A (p.Glu176Lys)
17g.47221801G>CCA400022519MYL4c.433G>C (p.Glu145Gln)
c.144G>C
c.*219G>C (n.*219G>C)
c.*35G>C (n.*35G>C)
c.223G>C (p.Glu75Gln)
c.526G>C (p.Glu176Gln)
17g.47221801G>TCA400022516MYL4c.433G>T (p.Glu145Ter)
c.144G>T
c.*219G>T (n.*219G>T)
c.*35G>T (n.*35G>T)
c.223G>T (p.Glu75Ter)
c.526G>T (p.Glu176Ter)
17g.47221802A>CCA400022522MYL4c.434A>C (p.Glu145Ala)
c.145A>C
c.*220A>C (n.*220A>C)
c.*36A>C (n.*36A>C)
c.224A>C (p.Glu75Ala)
c.527A>C (p.Glu176Ala)
17g.47221802A>GCA400022524MYL4c.434A>G (p.Glu145Gly)
c.145A>G
c.*220A>G (n.*220A>G)
c.*36A>G (n.*36A>G)
c.224A>G (p.Glu75Gly)
c.527A>G (p.Glu176Gly)
17g.47221802A>TCA400022525MYL4c.434A>T (p.Glu145Val)
c.145A>T
c.*220A>T (n.*220A>T)
c.*36A>T (n.*36A>T)
c.224A>T (p.Glu75Val)
c.527A>T (p.Glu176Val)
17g.47221803G>ACA8622741MYL4c.435G>A (p.Glu145=)
c.146G>A
c.*221G>A (n.*221G>A)
c.*37G>A (n.*37G>A)
c.225G>A (p.Glu75=)
c.528G>A (p.Glu176=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221803G>CCA400022529MYL4c.435G>C (p.Glu145Asp)
c.146G>C
c.*221G>C (n.*221G>C)
c.*37G>C (n.*37G>C)
c.225G>C (p.Glu75Asp)
c.528G>C (p.Glu176Asp)
ClinVar dbSNP
17g.47221803G=CA2262577628MYL4c.435G= (p.Glu145=)
c.146G=
c.*221G= (n.*221G=)
c.*37G= (n.*37G=)
c.225G= (p.Glu75=)
c.528G= (p.Glu176=)
17g.47221803G>TCA400022530MYL4c.435G>T (p.Glu145Asp)
c.146G>T
c.*221G>T (n.*221G>T)
c.*37G>T (n.*37G>T)
c.225G>T (p.Glu75Asp)
c.528G>T (p.Glu176Asp)
17g.47221804A>CCA400022533MYL4c.436A>C (p.Ser146Arg)
c.147A>C
c.*222A>C (n.*222A>C)
c.*38A>C (n.*38A>C)
c.226A>C (p.Ser76Arg)
c.529A>C (p.Ser177Arg)
17g.47221804A>GCA400022535MYL4c.436A>G (p.Ser146Gly)
c.147A>G
c.*222A>G (n.*222A>G)
c.*38A>G (n.*38A>G)
c.226A>G (p.Ser76Gly)
c.529A>G (p.Ser177Gly)
17g.47221804A>TCA400022536MYL4c.436A>T (p.Ser146Cys)
c.147A>T
c.*222A>T (n.*222A>T)
c.*38A>T (n.*38A>T)
c.226A>T (p.Ser76Cys)
c.529A>T (p.Ser177Cys)
17g.47221805G>ACA8622742MYL4c.437G>A (p.Ser146Asn)
c.148G>A
c.*223G>A (n.*223G>A)
c.*39G>A (n.*39G>A)
c.227G>A (p.Ser76Asn)
c.530G>A (p.Ser177Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221805G>CCA400022539MYL4c.437G>C (p.Ser146Thr)
c.148G>C
c.*223G>C (n.*223G>C)
c.*39G>C (n.*39G>C)
c.227G>C (p.Ser76Thr)
c.530G>C (p.Ser177Thr)
17g.47221805G=CA2262577629MYL4c.437G= (p.Ser146=)
c.148G=
c.*223G= (n.*223G=)
c.*39G= (n.*39G=)
c.227G= (p.Ser76=)
c.530G= (p.Ser177=)
17g.47221805G>TCA400022541MYL4c.437G>T (p.Ser146Ile)
c.148G>T
c.*223G>T (n.*223G>T)
c.*39G>T (n.*39G>T)
c.227G>T (p.Ser76Ile)
c.530G>T (p.Ser177Ile)
17g.47221806C>ACA400022544MYL4c.438C>A (p.Ser146Arg)
c.149C>A
c.*224C>A (n.*224C>A)
c.*40C>A (n.*40C>A)
c.228C>A (p.Ser76Arg)
c.531C>A (p.Ser177Arg)
17g.47221806C>GCA400022545MYL4c.438C>G (p.Ser146Arg)
c.149C>G
c.*224C>G (n.*224C>G)
c.*40C>G (n.*40C>G)
c.228C>G (p.Ser76Arg)
c.531C>G (p.Ser177Arg)
17g.47221806C>TCA500434001MYL4c.438C>T (p.Ser146=)
c.149C>T
c.*224C>T (n.*224C>T)
c.*40C>T (n.*40C>T)
c.228C>T (p.Ser76=)
c.531C>T (p.Ser177=)
17g.47221807A>CCA400022552MYL4c.439A>C (p.Asn147His)
c.150A>C
c.*225A>C (n.*225A>C)
c.*41A>C (n.*41A>C)
c.229A>C (p.Asn77His)
c.532A>C (p.Asn178His)
17g.47221807A>GCA400022550MYL4c.439A>G (p.Asn147Asp)
c.150A>G
c.*225A>G (n.*225A>G)
c.*41A>G (n.*41A>G)
c.229A>G (p.Asn77Asp)
c.532A>G (p.Asn178Asp)
gnomAD v4
17g.47221807A>TCA400022548MYL4c.439A>T (p.Asn147Tyr)
c.150A>T
c.*225A>T (n.*225A>T)
c.*41A>T (n.*41A>T)
c.229A>T (p.Asn77Tyr)
c.532A>T (p.Asn178Tyr)
17g.47221808A>CCA400022554MYL4c.440A>C (p.Asn147Thr)
c.151A>C
c.*226A>C (n.*226A>C)
c.*42A>C (n.*42A>C)
c.230A>C (p.Asn77Thr)
c.533A>C (p.Asn178Thr)
17g.47221808A>GCA400022556MYL4c.440A>G (p.Asn147Ser)
c.151A>G
c.*226A>G (n.*226A>G)
c.*42A>G (n.*42A>G)
c.230A>G (p.Asn77Ser)
c.533A>G (p.Asn178Ser)
17g.47221808A>TCA400022558MYL4c.440A>T (p.Asn147Ile)
c.151A>T
c.*226A>T (n.*226A>T)
c.*42A>T (n.*42A>T)
c.230A>T (p.Asn77Ile)
c.533A>T (p.Asn178Ile)
17g.47221809T>ACA400022560MYL4c.441T>A (p.Asn147Lys)
c.152T>A
c.*227T>A (n.*227T>A)
c.*43T>A (n.*43T>A)
c.231T>A (p.Asn77Lys)
c.534T>A (p.Asn178Lys)
17g.47221809T>CCA500434006MYL4c.441T>C (p.Asn147=)
c.152T>C
c.*227T>C (n.*227T>C)
c.*43T>C (n.*43T>C)
c.231T>C (p.Asn77=)
c.534T>C (p.Asn178=)
ClinVar dbSNP gnomAD v4
17g.47221809T>GCA400022562MYL4c.441T>G (p.Asn147Lys)
c.152T>G
c.*227T>G (n.*227T>G)
c.*43T>G (n.*43T>G)
c.231T>G (p.Asn77Lys)
c.534T>G (p.Asn178Lys)
17g.47221809T=CA2262577630MYL4c.441T= (p.Asn147=)
c.152T=
c.*227T= (n.*227T=)
c.*43T= (n.*43T=)
c.231T= (p.Asn77=)
c.534T= (p.Asn178=)
17g.47221810G>ACA400022564MYL4c.442G>A (p.Gly148Ser)
c.153G>A
c.*228G>A (n.*228G>A)
c.*44G>A (n.*44G>A)
c.232G>A (p.Gly78Ser)
c.535G>A (p.Gly179Ser)
17g.47221810G>CCA400022566MYL4c.442G>C (p.Gly148Arg)
c.153G>C
c.*228G>C (n.*228G>C)
c.*44G>C (n.*44G>C)
c.232G>C (p.Gly78Arg)
c.535G>C (p.Gly179Arg)
17g.47221810G>TCA400022568MYL4c.442G>T (p.Gly148Cys)
c.153G>T
c.*228G>T (n.*228G>T)
c.*44G>T (n.*44G>T)
c.232G>T (p.Gly78Cys)
c.535G>T (p.Gly179Cys)
17g.47221811G>ACA400022570MYL4c.443G>A (p.Gly148Asp)
c.154G>A
c.*229G>A (n.*229G>A)
c.*45G>A (n.*45G>A)
c.233G>A (p.Gly78Asp)
c.536G>A (p.Gly179Asp)
dbSNP gnomAD v2 gnomAD v4
17g.47221811G>CCA400022572MYL4c.443G>C (p.Gly148Ala)
c.154G>C
c.*229G>C (n.*229G>C)
c.*45G>C (n.*45G>C)
c.233G>C (p.Gly78Ala)
c.536G>C (p.Gly179Ala)
17g.47221811G=CA2262577631MYL4c.443G= (p.Gly148=)
c.154G=
c.*229G= (n.*229G=)
c.*45G= (n.*45G=)
c.233G= (p.Gly78=)
c.536G= (p.Gly179=)
17g.47221811G>TCA400022574MYL4c.443G>T (p.Gly148Val)
c.154G>T
c.*229G>T (n.*229G>T)
c.*45G>T (n.*45G>T)
c.233G>T (p.Gly78Val)
c.536G>T (p.Gly179Val)
gnomAD v4
17g.47221812C>ACA500434012MYL4c.444C>A (p.Gly148=)
c.155C>A
c.*230C>A (n.*230C>A)
c.*46C>A (n.*46C>A)
c.234C>A (p.Gly78=)
c.537C>A (p.Gly179=)
17g.47221812C>GCA500434014MYL4c.444C>G (p.Gly148=)
c.155C>G
c.*230C>G (n.*230C>G)
c.*46C>G (n.*46C>G)
c.234C>G (p.Gly78=)
c.537C>G (p.Gly179=)
17g.47221812C>TCA500434015MYL4c.444C>T (p.Gly148=)
c.155C>T
c.*230C>T (n.*230C>T)
c.*46C>T (n.*46C>T)
c.234C>T (p.Gly78=)
c.537C>T (p.Gly179=)
17g.47221813A=CA2262577632MYL4c.445A= (p.Thr149=)
c.156A=
c.*231A= (n.*231A=)
c.*47A= (n.*47A=)
c.235A= (p.Thr79=)
c.538A= (p.Thr180=)
17g.47221813A>CCA400022577MYL4c.445A>C (p.Thr149Pro)
c.156A>C
c.*231A>C (n.*231A>C)
c.*47A>C (n.*47A>C)
c.235A>C (p.Thr79Pro)
c.538A>C (p.Thr180Pro)
17g.47221813A>GCA400022579MYL4c.445A>G (p.Thr149Ala)
c.156A>G
c.*231A>G (n.*231A>G)
c.*47A>G (n.*47A>G)
c.235A>G (p.Thr79Ala)
c.538A>G (p.Thr180Ala)
17g.47221813A>TCA400022581MYL4c.445A>T (p.Thr149Ser)
c.156A>T
c.*231A>T (n.*231A>T)
c.*47A>T (n.*47A>T)
c.235A>T (p.Thr79Ser)
c.538A>T (p.Thr180Ser)
dbSNP gnomAD v2 gnomAD v4
17g.47221814C>ACA400022586MYL4c.446C>A (p.Thr149Lys)
c.157C>A
c.*232C>A (n.*232C>A)
c.*48C>A (n.*48C>A)
c.236C>A (p.Thr79Lys)
c.539C>A (p.Thr180Lys)
17g.47221814C=CA2262577633MYL4c.446C= (p.Thr149=)
c.157C=
c.*232C= (n.*232C=)
c.*48C= (n.*48C=)
c.236C= (p.Thr79=)
c.539C= (p.Thr180=)
17g.47221814C>GCA400022588MYL4c.446C>G (p.Thr149Arg)
c.157C>G
c.*232C>G (n.*232C>G)
c.*48C>G (n.*48C>G)
c.236C>G (p.Thr79Arg)
c.539C>G (p.Thr180Arg)
17g.47221814C>TCA8622743MYL4c.446C>T (p.Thr149Met)
c.157C>T
c.*232C>T (n.*232C>T)
c.*48C>T (n.*48C>T)
c.236C>T (p.Thr79Met)
c.539C>T (p.Thr180Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221815G>ACA8622744MYL4c.447G>A (p.Thr149=)
c.158G>A
c.*233G>A (n.*233G>A)
c.*49G>A (n.*49G>A)
c.237G>A (p.Thr79=)
c.540G>A (p.Thr180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221815G>CCA500434021MYL4c.447G>C (p.Thr149=)
c.158G>C
c.*233G>C (n.*233G>C)
c.*49G>C (n.*49G>C)
c.237G>C (p.Thr79=)
c.540G>C (p.Thr180=)
17g.47221815G=CA2262577634MYL4c.447G= (p.Thr149=)
c.158G=
c.*233G= (n.*233G=)
c.*49G= (n.*49G=)
c.237G= (p.Thr79=)
c.540G= (p.Thr180=)
17g.47221815G>TCA500434018MYL4c.447G>T (p.Thr149=)
c.158G>T
c.*233G>T (n.*233G>T)
c.*49G>T (n.*49G>T)
c.237G>T (p.Thr79=)
c.540G>T (p.Thr180=)
gnomAD v4
17g.47221816G>ACA400022592MYL4c.448G>A (p.Val150Ile)
c.159G>A
c.*234G>A (n.*234G>A)
c.*50G>A (n.*50G>A)
c.238G>A (p.Val80Ile)
c.541G>A (p.Val181Ile)
ClinVar
17g.47221816G>CCA400022596MYL4c.448G>C (p.Val150Leu)
c.159G>C
c.*234G>C (n.*234G>C)
c.*50G>C (n.*50G>C)
c.238G>C (p.Val80Leu)
c.541G>C (p.Val181Leu)
17g.47221816G=CA2262577635MYL4c.448G= (p.Val150=)
c.159G=
c.*234G= (n.*234G=)
c.*50G= (n.*50G=)
c.238G= (p.Val80=)
c.541G= (p.Val181=)
17g.47221816G>TCA400022594MYL4c.448G>T (p.Val150Phe)
c.159G>T
c.*234G>T (n.*234G>T)
c.*50G>T (n.*50G>T)
c.238G>T (p.Val80Phe)
c.541G>T (p.Val181Phe)
dbSNP
17g.47221817T>ACA400022599MYL4c.449T>A (p.Val150Asp)
c.160T>A
c.*235T>A (n.*235T>A)
c.*51T>A (n.*51T>A)
c.239T>A (p.Val80Asp)
c.542T>A (p.Val181Asp)
17g.47221817T>CCA400022602MYL4c.449T>C (p.Val150Ala)
c.160T>C
c.*235T>C (n.*235T>C)
c.*51T>C (n.*51T>C)
c.239T>C (p.Val80Ala)
c.542T>C (p.Val181Ala)
17g.47221817T>GCA400022601MYL4c.449T>G (p.Val150Gly)
c.160T>G
c.*235T>G (n.*235T>G)
c.*51T>G (n.*51T>G)
c.239T>G (p.Val80Gly)
c.542T>G (p.Val181Gly)
17g.47221818C>ACA500434027MYL4c.450C>A (p.Val150=)
c.161C>A
c.*236C>A (n.*236C>A)
c.*52C>A (n.*52C>A)
c.240C>A (p.Val80=)
c.543C>A (p.Val181=)
17g.47221818C>GCA500434026MYL4c.450C>G (p.Val150=)
c.161C>G
c.*236C>G (n.*236C>G)
c.*52C>G (n.*52C>G)
c.240C>G (p.Val80=)
c.543C>G (p.Val181=)
17g.47221818C>TCA500434025MYL4c.450C>T (p.Val150=)
c.161C>T
c.*236C>T (n.*236C>T)
c.*52C>T (n.*52C>T)
c.240C>T (p.Val80=)
c.543C>T (p.Val181=)
17g.47221819A>CCA400022606MYL4c.451A>C (p.Met151Leu)
c.162A>C
c.*237A>C (n.*237A>C)
c.*53A>C (n.*53A>C)
c.241A>C (p.Met81Leu)
c.544A>C (p.Met182Leu)
17g.47221819A>GCA400022608MYL4c.451A>G (p.Met151Val)
c.162A>G
c.*237A>G (n.*237A>G)
c.*53A>G (n.*53A>G)
c.241A>G (p.Met81Val)
c.544A>G (p.Met182Val)
17g.47221819A>TCA400022607MYL4c.451A>T (p.Met151Leu)
c.162A>T
c.*237A>T (n.*237A>T)
c.*53A>T (n.*53A>T)
c.241A>T (p.Met81Leu)
c.544A>T (p.Met182Leu)
17g.47221820T>ACA400022610MYL4c.452T>A (p.Met151Lys)
c.163T>A
c.*238T>A (n.*238T>A)
c.*54T>A (n.*54T>A)
c.242T>A (p.Met81Lys)
c.545T>A (p.Met182Lys)
17g.47221820T>CCA400022613MYL4c.452T>C (p.Met151Thr)
c.163T>C
c.*238T>C (n.*238T>C)
c.*54T>C (n.*54T>C)
c.242T>C (p.Met81Thr)
c.545T>C (p.Met182Thr)
17g.47221820T>GCA400022611MYL4c.452T>G (p.Met151Arg)
c.163T>G
c.*238T>G (n.*238T>G)
c.*54T>G (n.*54T>G)
c.242T>G (p.Met81Arg)
c.545T>G (p.Met182Arg)
17g.47221820_47221821delinsTGCA2262577636MYL4c.452_453delinsTG (p.Met151=)
c.163_164delinsTG
c.*238_*239delinsTG (n.*238_*239delinsTG)
c.*54_*55delinsTG (n.*54_*55delinsTG)
c.242_243delinsTG (p.Met81=)
c.545_546delinsTG (p.Met182=)
17g.47221821G>ACA400022616MYL4c.453G>A (p.Met151Ile)
c.164G>A
c.*239G>A (n.*239G>A)
c.*55G>A (n.*55G>A)
c.243G>A (p.Met81Ile)
c.546G>A (p.Met182Ile)
17g.47221821G>CCA400022618MYL4c.453G>C (p.Met151Ile)
c.164G>C
c.*239G>C (n.*239G>C)
c.*55G>C (n.*55G>C)
c.243G>C (p.Met81Ile)
c.546G>C (p.Met182Ile)
17g.47221821G>TCA400022620MYL4c.453G>T (p.Met151Ile)
c.164G>T
c.*239G>T (n.*239G>T)
c.*55G>T (n.*55G>T)
c.243G>T (p.Met81Ile)
c.546G>T (p.Met182Ile)
17g.47221823delCA8622745MYL4c.455del (p.Gly152ValfsTer15)
c.166del
c.*241del (n.*241del)
c.*57del (n.*57del)
c.245del (p.Gly82ValfsTer15)
c.548del (p.Gly183ValfsTer15)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221822G>ACA400022622MYL4c.454G>A (p.Gly152Ser)
c.165G>A
c.*240G>A (n.*240G>A)
c.*56G>A (n.*56G>A)
c.244G>A (p.Gly82Ser)
c.547G>A (p.Gly183Ser)
17g.47221822G>CCA400022624MYL4c.454G>C (p.Gly152Arg)
c.165G>C
c.*240G>C (n.*240G>C)
c.*56G>C (n.*56G>C)
c.244G>C (p.Gly82Arg)
c.547G>C (p.Gly183Arg)
17g.47221822G=CA2262577637MYL4c.454G= (p.Gly152=)
c.165G=
c.*240G= (n.*240G=)
c.*56G= (n.*56G=)
c.244G= (p.Gly82=)
c.547G= (p.Gly183=)
17g.47221822G>TCA400022626MYL4c.454G>T (p.Gly152Cys)
c.165G>T
c.*240G>T (n.*240G>T)
c.*56G>T (n.*56G>T)
c.244G>T (p.Gly82Cys)
c.547G>T (p.Gly183Cys)
ClinVar dbSNP
17g.47221823G>ACA400022628MYL4c.455G>A (p.Gly152Asp)
c.166G>A
c.*241G>A (n.*241G>A)
c.*57G>A (n.*57G>A)
c.245G>A (p.Gly82Asp)
c.548G>A (p.Gly183Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221823G>CCA400022630MYL4c.455G>C (p.Gly152Ala)
c.166G>C
c.*241G>C (n.*241G>C)
c.*57G>C (n.*57G>C)
c.245G>C (p.Gly82Ala)
c.548G>C (p.Gly183Ala)
17g.47221823G=CA2262577638MYL4c.455G= (p.Gly152=)
c.166G=
c.*241G= (n.*241G=)
c.*57G= (n.*57G=)
c.245G= (p.Gly82=)
c.548G= (p.Gly183=)
17g.47221823G>TCA400022632MYL4c.455G>T (p.Gly152Val)
c.166G>T
c.*241G>T (n.*241G>T)
c.*57G>T (n.*57G>T)
c.245G>T (p.Gly82Val)
c.548G>T (p.Gly183Val)
17g.47221824T>ACA500434034MYL4c.456T>A (p.Gly152=)
c.167T>A
c.*242T>A (n.*242T>A)
c.*58T>A (n.*58T>A)
c.246T>A (p.Gly82=)
c.549T>A (p.Gly183=)
17g.47221824T>CCA500434036MYL4c.456T>C (p.Gly152=)
c.167T>C
c.*242T>C (n.*242T>C)
c.*58T>C (n.*58T>C)
c.246T>C (p.Gly82=)
c.549T>C (p.Gly183=)
17g.47221824T>GCA500434035MYL4c.456T>G (p.Gly152=)
c.167T>G
c.*242T>G (n.*242T>G)
c.*58T>G (n.*58T>G)
c.246T>G (p.Gly82=)
c.549T>G (p.Gly183=)
17g.47221825G>ACA400022634MYL4c.457G>A (p.Ala153Thr)
c.168G>A
c.*243G>A (n.*243G>A)
c.*59G>A (n.*59G>A)
c.247G>A (p.Ala83Thr)
c.550G>A (p.Ala184Thr)
17g.47221825G>CCA400022636MYL4c.457G>C (p.Ala153Pro)
c.168G>C
c.*243G>C (n.*243G>C)
c.*59G>C (n.*59G>C)
c.247G>C (p.Ala83Pro)
c.550G>C (p.Ala184Pro)
17g.47221825G>TCA400022638MYL4c.457G>T (p.Ala153Ser)
c.168G>T
c.*243G>T (n.*243G>T)
c.*59G>T (n.*59G>T)
c.247G>T (p.Ala83Ser)
c.550G>T (p.Ala184Ser)
17g.47221826C>ACA400022644MYL4c.458C>A (p.Ala153Asp)
c.169C>A
c.*244C>A (n.*244C>A)
c.*60C>A (n.*60C>A)
c.248C>A (p.Ala83Asp)
c.551C>A (p.Ala184Asp)
17g.47221826C>GCA400022642MYL4c.458C>G (p.Ala153Gly)
c.169C>G
c.*244C>G (n.*244C>G)
c.*60C>G (n.*60C>G)
c.248C>G (p.Ala83Gly)
c.551C>G (p.Ala184Gly)
17g.47221826C>TCA400022640MYL4c.458C>T (p.Ala153Val)
c.169C>T
c.*244C>T (n.*244C>T)
c.*60C>T (n.*60C>T)
c.248C>T (p.Ala83Val)
c.551C>T (p.Ala184Val)
17g.47221827T>ACA500434041MYL4c.459T>A (p.Ala153=)
c.170T>A
c.*245T>A (n.*245T>A)
c.*61T>A (n.*61T>A)
c.249T>A (p.Ala83=)
c.552T>A (p.Ala184=)
17g.47221827T>CCA500434040MYL4c.459T>C (p.Ala153=)
c.170T>C
c.*245T>C (n.*245T>C)
c.*61T>C (n.*61T>C)
c.249T>C (p.Ala83=)
c.552T>C (p.Ala184=)
17g.47221827T>GCA500434038MYL4c.459T>G (p.Ala153=)
c.170T>G
c.*245T>G (n.*245T>G)
c.*61T>G (n.*61T>G)
c.249T>G (p.Ala83=)
c.552T>G (p.Ala184=)
17g.47221828G>ACA400022646MYL4c.460G>A (p.Glu154Lys)
c.171G>A
c.*246G>A (n.*246G>A)
c.*62G>A (n.*62G>A)
c.250G>A (p.Glu84Lys)
c.553G>A (p.Glu185Lys)
17g.47221828G>CCA400022648MYL4c.460G>C (p.Glu154Gln)
c.171G>C
c.*246G>C (n.*246G>C)
c.*62G>C (n.*62G>C)
c.250G>C (p.Glu84Gln)
c.553G>C (p.Glu185Gln)
17g.47221828G>TCA400022650MYL4c.460G>T (p.Glu154Ter)
c.171G>T
c.*246G>T (n.*246G>T)
c.*62G>T (n.*62G>T)
c.250G>T (p.Glu84Ter)
c.553G>T (p.Glu185Ter)
17g.47221829A>CCA400022653MYL4c.461A>C (p.Glu154Ala)
c.172A>C
c.*247A>C (n.*247A>C)
c.*63A>C (n.*63A>C)
c.251A>C (p.Glu84Ala)
c.554A>C (p.Glu185Ala)
17g.47221829A>GCA400022655MYL4c.461A>G (p.Glu154Gly)
c.172A>G
c.*247A>G (n.*247A>G)
c.*63A>G (n.*63A>G)
c.251A>G (p.Glu84Gly)
c.554A>G (p.Glu185Gly)
17g.47221829A>TCA400022657MYL4c.461A>T (p.Glu154Val)
c.172A>T
c.*247A>T (n.*247A>T)
c.*63A>T (n.*63A>T)
c.251A>T (p.Glu84Val)
c.554A>T (p.Glu185Val)
17g.47221830G>ACA500434044MYL4c.462G>A (p.Glu154=)
c.173G>A
c.*248G>A (n.*248G>A)
c.*64G>A (n.*64G>A)
c.252G>A (p.Glu84=)
c.555G>A (p.Glu185=)
17g.47221830G>CCA400022659MYL4c.462G>C (p.Glu154Asp)
c.173G>C
c.*248G>C (n.*248G>C)
c.*64G>C (n.*64G>C)
c.252G>C (p.Glu84Asp)
c.555G>C (p.Glu185Asp)
17g.47221830G>TCA400022661MYL4c.462G>T (p.Glu154Asp)
c.173G>T
c.*248G>T (n.*248G>T)
c.*64G>T (n.*64G>T)
c.252G>T (p.Glu84Asp)
c.555G>T (p.Glu185Asp)
17g.47221831C>ACA400022664MYL4c.463C>A (p.Leu155Ile)
c.174C>A
c.*249C>A (n.*249C>A)
c.*65C>A (n.*65C>A)
c.253C>A (p.Leu85Ile)
c.556C>A (p.Leu186Ile)
17g.47221831C>GCA400022665MYL4c.463C>G (p.Leu155Val)
c.174C>G
c.*249C>G (n.*249C>G)
c.*65C>G (n.*65C>G)
c.253C>G (p.Leu85Val)
c.556C>G (p.Leu186Val)
17g.47221831C>TCA400022668MYL4c.463C>T (p.Leu155Phe)
c.174C>T
c.*249C>T (n.*249C>T)
c.*65C>T (n.*65C>T)
c.253C>T (p.Leu85Phe)
c.556C>T (p.Leu186Phe)
gnomAD v4
17g.47221832T>ACA400022675MYL4c.464T>A (p.Leu155His)
c.175T>A
c.*250T>A (n.*250T>A)
c.*66T>A (n.*66T>A)
c.254T>A (p.Leu85His)
c.557T>A (p.Leu186His)
17g.47221832T>CCA400022673MYL4c.464T>C (p.Leu155Pro)
c.175T>C
c.*250T>C (n.*250T>C)
c.*66T>C (n.*66T>C)
c.254T>C (p.Leu85Pro)
c.557T>C (p.Leu186Pro)
17g.47221832T>GCA400022671MYL4c.464T>G (p.Leu155Arg)
c.175T>G
c.*250T>G (n.*250T>G)
c.*66T>G (n.*66T>G)
c.254T>G (p.Leu85Arg)
c.557T>G (p.Leu186Arg)
dbSNP gnomAD v3 gnomAD v4
17g.47221832T=CA2262577639MYL4c.464T= (p.Leu155=)
c.175T=
c.*250T= (n.*250T=)
c.*66T= (n.*66T=)
c.254T= (p.Leu85=)
c.557T= (p.Leu186=)
17g.47221833T>ACA500434052MYL4c.465T>A (p.Leu155=)
c.176T>A
c.*251T>A (n.*251T>A)
c.*67T>A (n.*67T>A)
c.255T>A (p.Leu85=)
c.558T>A (p.Leu186=)
17g.47221833T>CCA500434053MYL4c.465T>C (p.Leu155=)
c.176T>C
c.*251T>C (n.*251T>C)
c.*67T>C (n.*67T>C)
c.255T>C (p.Leu85=)
c.558T>C (p.Leu186=)
17g.47221833T>GCA500434054MYL4c.465T>G (p.Leu155=)
c.176T>G
c.*251T>G (n.*251T>G)
c.*67T>G (n.*67T>G)
c.255T>G (p.Leu85=)
c.558T>G (p.Leu186=)
17g.47221834C>ACA500434057MYL4c.466C>A (p.Arg156=)
c.177C>A
c.*252C>A (n.*252C>A)
c.*68C>A (n.*68C>A)
c.256C>A (p.Arg86=)
c.559C>A (p.Arg187=)
17g.47221834C=CA2262577640MYL4c.466C= (p.Arg156=)
c.177C=
c.*252C= (n.*252C=)
c.*68C= (n.*68C=)
c.256C= (p.Arg86=)
c.559C= (p.Arg187=)
17g.47221834C>GCA400022677MYL4c.466C>G (p.Arg156Gly)
c.177C>G
c.*252C>G (n.*252C>G)
c.*68C>G (n.*68C>G)
c.256C>G (p.Arg86Gly)
c.559C>G (p.Arg187Gly)
17g.47221834C>TCA8622746MYL4c.466C>T (p.Arg156Trp)
c.177C>T
c.*252C>T (n.*252C>T)
c.*68C>T (n.*68C>T)
c.256C>T (p.Arg86Trp)
c.559C>T (p.Arg187Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47221835G>ACA8622747MYL4c.467G>A (p.Arg156Gln)
c.178G>A
c.*253G>A (n.*253G>A)
c.*69G>A (n.*69G>A)
c.257G>A (p.Arg86Gln)
c.560G>A (p.Arg187Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47221835G>CCA400022681MYL4c.467G>C (p.Arg156Pro)
c.178G>C
c.*253G>C (n.*253G>C)
c.*69G>C (n.*69G>C)
c.257G>C (p.Arg86Pro)
c.560G>C (p.Arg187Pro)
17g.47221835G=CA2262577641MYL4c.467G= (p.Arg156=)
c.178G=
c.*253G= (n.*253G=)
c.*69G= (n.*69G=)
c.257G= (p.Arg86=)
c.560G= (p.Arg187=)
17g.47221835G>TCA400022683MYL4c.467G>T (p.Arg156Leu)
c.178G>T
c.*253G>T (n.*253G>T)
c.*69G>T (n.*69G>T)
c.257G>T (p.Arg86Leu)
c.560G>T (p.Arg187Leu)
17g.47221836G>ACA500434062MYL4c.468G>A (p.Arg156=)
c.179G>A
c.*254G>A (n.*254G>A)
c.*70G>A (n.*70G>A)
c.258G>A (p.Arg86=)
c.561G>A (p.Arg187=)
17g.47221836G>CCA500434064MYL4c.468G>C (p.Arg156=)
c.179G>C
c.*254G>C (n.*254G>C)
c.*70G>C (n.*70G>C)
c.258G>C (p.Arg86=)
c.561G>C (p.Arg187=)
COSMIC COSMIC
17g.47221836G>TCA500434060MYL4c.468G>T (p.Arg156=)
c.179G>T
c.*254G>T (n.*254G>T)
c.*70G>T (n.*70G>T)
c.258G>T (p.Arg86=)
c.561G>T (p.Arg187=)
17g.47221837C>ACA400022685MYL4c.469C>A (p.His157Asn)
c.180C>A
c.*255C>A (n.*255C>A)
c.*71C>A (n.*71C>A)
c.259C>A (p.His87Asn)
c.562C>A (p.His188Asn)
17g.47221837C>GCA400022687MYL4c.469C>G (p.His157Asp)
c.180C>G
c.*255C>G (n.*255C>G)
c.*71C>G (n.*71C>G)
c.259C>G (p.His87Asp)
c.562C>G (p.His188Asp)
ClinVar
17g.47221837C>TCA400022689MYL4c.469C>T (p.His157Tyr)
c.180C>T
c.*255C>T (n.*255C>T)
c.*71C>T (n.*71C>T)
c.259C>T (p.His87Tyr)
c.562C>T (p.His188Tyr)
17g.47221838A=CA2262577642MYL4c.470A= (p.His157=)
c.181A=
c.*256A= (n.*256A=)
c.*72A= (n.*72A=)
c.260A= (p.His87=)
c.563A= (p.His188=)
17g.47221838A>CCA400022691MYL4c.470A>C (p.His157Pro)
c.181A>C
c.*256A>C (n.*256A>C)
c.*72A>C (n.*72A>C)
c.260A>C (p.His87Pro)
c.563A>C (p.His188Pro)
dbSNP gnomAD v3 gnomAD v4
17g.47221838A>GCA400022693MYL4c.470A>G (p.His157Arg)
c.181A>G
c.*256A>G (n.*256A>G)
c.*72A>G (n.*72A>G)
c.260A>G (p.His87Arg)
c.563A>G (p.His188Arg)
17g.47221838A>TCA400022695MYL4c.470A>T (p.His157Leu)
c.181A>T
c.*256A>T (n.*256A>T)
c.*72A>T (n.*72A>T)
c.260A>T (p.His87Leu)
c.563A>T (p.His188Leu)
17g.47221839C>ACA400022701MYL4c.471C>A (p.His157Gln)
c.182C>A
c.*257C>A (n.*257C>A)
c.*73C>A (n.*73C>A)
c.261C>A (p.His87Gln)
c.564C>A (p.His188Gln)
17g.47221839C=CA2262577643MYL4c.471C= (p.His157=)
c.182C=
c.*257C= (n.*257C=)
c.*73C= (n.*73C=)
c.261C= (p.His87=)
c.564C= (p.His188=)
17g.47221839C>GCA400022698MYL4c.471C>G (p.His157Gln)
c.182C>G
c.*257C>G (n.*257C>G)
c.*73C>G (n.*73C>G)
c.261C>G (p.His87Gln)
c.564C>G (p.His188Gln)
gnomAD v3 gnomAD v4
17g.47221839C>TCA8622748MYL4c.471C>T (p.His157=)
c.182C>T
c.*257C>T (n.*257C>T)
c.*73C>T (n.*73C>T)
c.261C>T (p.His87=)
c.564C>T (p.His188=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.47221840G>ACA8622749MYL4c.472G>A (p.Val158Ile)
c.183G>A
c.*258G>A (n.*258G>A)
c.*74G>A (n.*74G>A)
c.262G>A (p.Val88Ile)
c.565G>A (p.Val189Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.47221840G>CCA400022704MYL4c.472G>C (p.Val158Leu)
c.183G>C
c.*258G>C (n.*258G>C)
c.*74G>C (n.*74G>C)
c.262G>C (p.Val88Leu)
c.565G>C (p.Val189Leu)
17g.47221840G=CA2262577644MYL4c.472G= (p.Val158=)
c.183G=
c.*258G= (n.*258G=)
c.*74G= (n.*74G=)
c.262G= (p.Val88=)
c.565G= (p.Val189=)
17g.47221840G>TCA400022705MYL4c.472G>T (p.Val158Phe)
c.183G>T
c.*258G>T (n.*258G>T)
c.*74G>T (n.*74G>T)
c.262G>T (p.Val88Phe)
c.565G>T (p.Val189Phe)
gnomAD v4
17g.47221841T>ACA400022706MYL4c.473T>A (p.Val158Asp)
c.184T>A
c.*259T>A (n.*259T>A)
c.*75T>A (n.*75T>A)
c.263T>A (p.Val88Asp)
c.566T>A (p.Val189Asp)
17g.47221841T>CCA400022707MYL4c.473T>C (p.Val158Ala)
c.184T>C
c.*259T>C (n.*259T>C)
c.*75T>C (n.*75T>C)
c.263T>C (p.Val88Ala)
c.566T>C (p.Val189Ala)
17g.47221841T>GCA400022709MYL4c.473T>G (p.Val158Gly)
c.184T>G
c.*259T>G (n.*259T>G)
c.*75T>G (n.*75T>G)
c.263T>G (p.Val88Gly)
c.566T>G (p.Val189Gly)
17g.47221842C>ACA500434074MYL4c.474C>A (p.Val158=)
c.185C>A
c.*260C>A (n.*260C>A)
c.*76C>A (n.*76C>A)
c.264C>A (p.Val88=)
c.567C>A (p.Val189=)
17g.47221842C>GCA500434075MYL4c.474C>G (p.Val158=)
c.185C>G
c.*260C>G (n.*260C>G)
c.*76C>G (n.*76C>G)
c.264C>G (p.Val88=)
c.567C>G (p.Val189=)
17g.47221842C>TCA500434076MYL4c.474C>T (p.Val158=)
c.185C>T
c.*260C>T (n.*260C>T)
c.*76C>T (n.*76C>T)
c.264C>T (p.Val88=)
c.567C>T (p.Val189=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.47221843C>ACA400022712MYL4c.475C>A (p.Leu159Ile)
c.186C>A
c.*261C>A (n.*261C>A)
c.*77C>A (n.*77C>A)
c.265C>A (p.Leu89Ile)
c.568C>A (p.Leu190Ile)
17g.47221843C>GCA400022713MYL4c.475C>G (p.Leu159Val)
c.186C>G
c.*261C>G (n.*261C>G)
c.*77C>G (n.*77C>G)
c.265C>G (p.Leu89Val)
c.568C>G (p.Leu190Val)
gnomAD v4
17g.47221843C>TCA400022715MYL4c.475C>T (p.Leu159Phe)
c.186C>T
c.*261C>T (n.*261C>T)
c.*77C>T (n.*77C>T)
c.265C>T (p.Leu89Phe)
c.568C>T (p.Leu190Phe)
17g.47221844T>ACA400022718MYL4c.476T>A (p.Leu159His)
c.187T>A
c.*262T>A (n.*262T>A)
c.*78T>A (n.*78T>A)
c.266T>A (p.Leu89His)
c.569T>A (p.Leu190His)
17g.47221844T>CCA400022719MYL4c.476T>C (p.Leu159Pro)
c.187T>C
c.*262T>C (n.*262T>C)
c.*78T>C (n.*78T>C)
c.266T>C (p.Leu89Pro)
c.569T>C (p.Leu190Pro)
17g.47221844T>GCA400022721MYL4c.476T>G (p.Leu159Arg)
c.187T>G
c.*262T>G (n.*262T>G)
c.*78T>G (n.*78T>G)
c.266T>G (p.Leu89Arg)
c.569T>G (p.Leu190Arg)
17g.47221845T>ACA500434080MYL4c.477T>A (p.Leu159=)
c.188T>A
c.*263T>A (n.*263T>A)
c.*79T>A (n.*79T>A)
c.267T>A (p.Leu89=)
c.570T>A (p.Leu190=)
17g.47221845T>CCA500434084MYL4c.477T>C (p.Leu159=)
c.188T>C
c.*263T>C (n.*263T>C)
c.*79T>C (n.*79T>C)
c.267T>C (p.Leu89=)
c.570T>C (p.Leu190=)
17g.47221845T>GCA500434081MYL4c.477T>G (p.Leu159=)
c.188T>G
c.*263T>G (n.*263T>G)
c.*79T>G (n.*79T>G)
c.267T>G (p.Leu89=)
c.570T>G (p.Leu190=)
17g.47221846G>ACA400022726MYL4c.478G>A (p.Ala160Thr)
c.189G>A
c.*264G>A (n.*264G>A)
c.*80G>A (n.*80G>A)
c.268G>A (p.Ala90Thr)
c.571G>A (p.Ala191Thr)
17g.47221846G>CCA400022728MYL4c.478G>C (p.Ala160Pro)
c.189G>C
c.*264G>C (n.*264G>C)
c.*80G>C (n.*80G>C)
c.268G>C (p.Ala90Pro)
c.571G>C (p.Ala191Pro)
17g.47221846G>TCA400022724MYL4c.478G>T (p.Ala160Ser)
c.189G>T
c.*264G>T (n.*264G>T)
c.*80G>T (n.*80G>T)
c.268G>T (p.Ala90Ser)
c.571G>T (p.Ala191Ser)
17g.47221847C>ACA400022735MYL4c.479C>A (p.Ala160Asp)
c.190C>A
c.*265C>A (n.*265C>A)
c.*81C>A (n.*81C>A)
c.269C>A (p.Ala90Asp)
c.572C>A (p.Ala191Asp)
17g.47221847C=CA2262577645MYL4c.479C= (p.Ala160=)
c.190C=
c.*265C= (n.*265C=)
c.*81C= (n.*81C=)
c.269C= (p.Ala90=)
c.572C= (p.Ala191=)
17g.47221847C>GCA400022731MYL4c.479C>G (p.Ala160Gly)
c.190C>G
c.*265C>G (n.*265C>G)
c.*81C>G (n.*81C>G)
c.269C>G (p.Ala90Gly)
c.572C>G (p.Ala191Gly)
17g.47221847C>TCA400022733MYL4c.479C>T (p.Ala160Val)
c.190C>T
c.*265C>T (n.*265C>T)
c.*81C>T (n.*81C>T)
c.269C>T (p.Ala90Val)
c.572C>T (p.Ala191Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47221848C>ACA500434088MYL4c.480C>A (p.Ala160=)
c.191C>A
c.*266C>A (n.*266C>A)
c.*82C>A (n.*82C>A)
c.270C>A (p.Ala90=)
c.573C>A (p.Ala191=)
17g.47221848C>GCA500434091MYL4c.480C>G (p.Ala160=)
c.191C>G
c.*266C>G (n.*266C>G)
c.*82C>G (n.*82C>G)
c.270C>G (p.Ala90=)
c.573C>G (p.Ala191=)
17g.47221848C>TCA500434090MYL4c.480C>T (p.Ala160=)
c.191C>T
c.*266C>T (n.*266C>T)
c.*82C>T (n.*82C>T)
c.270C>T (p.Ala90=)
c.573C>T (p.Ala191=)
17g.47221849A>CCA400022737MYL4c.481A>C (p.Thr161Pro)
c.192A>C
c.*267A>C (n.*267A>C)
c.*83A>C (n.*83A>C)
c.271A>C (p.Thr91Pro)
c.574A>C (p.Thr192Pro)
17g.47221849A>GCA400022738MYL4c.481A>G (p.Thr161Ala)
c.192A>G
c.*267A>G (n.*267A>G)
c.*83A>G (n.*83A>G)
c.271A>G (p.Thr91Ala)
c.574A>G (p.Thr192Ala)
17g.47221849A>TCA400022740MYL4c.481A>T (p.Thr161Ser)
c.192A>T
c.*267A>T (n.*267A>T)
c.*83A>T (n.*83A>T)
c.271A>T (p.Thr91Ser)
c.574A>T (p.Thr192Ser)
ClinVar
17g.47221850C>ACA400022743MYL4c.482C>A (p.Thr161Asn)
c.193C>A
c.*268C>A (n.*268C>A)
c.*84C>A (n.*84C>A)
c.272C>A (p.Thr91Asn)
c.575C>A (p.Thr192Asn)
17g.47221850C>GCA400022745MYL4c.482C>G (p.Thr161Ser)
c.193C>G
c.*268C>G (n.*268C>G)
c.*84C>G (n.*84C>G)
c.272C>G (p.Thr91Ser)
c.575C>G (p.Thr192Ser)
17g.47221850C>TCA400022747MYL4c.482C>T (p.Thr161Ile)
c.193C>T
c.*268C>T (n.*268C>T)
c.*84C>T (n.*84C>T)
c.272C>T (p.Thr91Ile)
c.575C>T (p.Thr192Ile)
ClinVar dbSNP
17g.47221851C>ACA500434103MYL4c.483C>A (p.Thr161=)
c.194C>A
c.*269C>A (n.*269C>A)
c.*85C>A (n.*85C>A)
c.273C>A (p.Thr91=)
c.576C>A (p.Thr192=)
17g.47221851C>GCA500434104MYL4c.483C>G (p.Thr161=)
c.194C>G
c.*269C>G (n.*269C>G)
c.*85C>G (n.*85C>G)
c.273C>G (p.Thr91=)
c.576C>G (p.Thr192=)
17g.47221851C>TCA500434102MYL4c.483C>T (p.Thr161=)
c.194C>T
c.*269C>T (n.*269C>T)
c.*85C>T (n.*85C>T)
c.273C>T (p.Thr91=)
c.576C>T (p.Thr192=)
COSMIC COSMIC
17g.47221851_47221852insATGGGTATGCCAGCA2638433048MYL4c.483_484insATGGGTATGCCAG (p.Leu162MetfsTer11)
c.194_195insATGGGTATGCCAG
c.*269_*270insATGGGTATGCCAG (n.*269_*270insATGGGTATGCCAG)
c.*85_*86insATGGGTATGCCAG (n.*85_*86insATGGGTATGCCAG)
c.273_274insATGGGTATGCCAG (p.Leu92MetfsTer11)
c.576_577insATGGGTATGCCAG (p.Leu193MetfsTer11)
gnomAD v4
17g.47221852C>ACA400022750MYL4c.484C>A (p.Leu162Met)
c.195C>A
c.*270C>A (n.*270C>A)
c.*86C>A (n.*86C>A)
c.274C>A (p.Leu92Met)
c.577C>A (p.Leu193Met)
gnomAD v4
17g.47221852C>GCA400022751MYL4c.484C>G (p.Leu162Val)
c.195C>G
c.*270C>G (n.*270C>G)
c.*86C>G (n.*86C>G)
c.274C>G (p.Leu92Val)
c.577C>G (p.Leu193Val)
17g.47221852C>TCA500434108MYL4c.484C>T (p.Leu162=)
c.195C>T
c.*270C>T (n.*270C>T)
c.*86C>T (n.*86C>T)
c.274C>T (p.Leu92=)
c.577C>T (p.Leu193=)
17g.47221853T>ACA400022754MYL4c.485T>A (p.Leu162Gln)
c.196T>A
c.*271T>A (n.*271T>A)
c.*87T>A (n.*87T>A)
c.275T>A (p.Leu92Gln)
c.578T>A (p.Leu193Gln)
gnomAD v4
17g.47221853T>CCA400022755MYL4c.485T>C (p.Leu162Pro)
c.196T>C
c.*271T>C (n.*271T>C)
c.*87T>C (n.*87T>C)
c.275T>C (p.Leu92Pro)
c.578T>C (p.Leu193Pro)
17g.47221853T>GCA400022758MYL4c.485T>G (p.Leu162Arg)
c.196T>G
c.*271T>G (n.*271T>G)
c.*87T>G (n.*87T>G)
c.275T>G (p.Leu92Arg)
c.578T>G (p.Leu193Arg)
gnomAD v4

Number of alleles fetched