Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47221753C>A | CA400022309 | MYL4 | c.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) | |
17 | g.47221753C>G | CA400022310 | MYL4 | c.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) | |
17 | g.47221753C>T | CA400022311 | MYL4 | c.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) | |
17 | g.47221754A= | CA2262577611 | MYL4 | c.386A= (p.Gln129=) c.97A= c.*172A= (n.*172A=) c.479A= (p.Gln160=) c.336A= (p.Ala112=) c.176A= (p.Gln59=) | |
17 | g.47221754A>C | CA400022312 | MYL4 | c.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) | |
17 | g.47221754A>G | CA400022313 | MYL4 | c.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 |
17 | g.47221754A>T | CA400022314 | MYL4 | c.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) | |
17 | g.47221755G>A | CA500433888 | MYL4 | c.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 |
17 | g.47221755G>C | CA400022315 | MYL4 | c.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) | |
17 | g.47221755G>T | CA400022316 | MYL4 | c.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) | |
17 | g.47221756G>A | CA400022319 | MYL4 | c.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 |
17 | g.47221756G>C | CA400022318 | MYL4 | c.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) | |
17 | g.47221756G>T | CA400022317 | MYL4 | c.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) | |
17 | g.47221757G>A | CA400022320 | MYL4 | c.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) | |
17 | g.47221757G>C | CA400022321 | MYL4 | c.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) | |
17 | g.47221757G>T | CA400022322 | MYL4 | c.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) | |
17 | g.47221758C>A | CA500433893 | MYL4 | c.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=) | |
17 | g.47221758C>G | CA500433894 | MYL4 | c.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=) | |
17 | g.47221758C>T | CA500433892 | MYL4 | c.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=) | |
17 | g.47221759A>C | CA400022323 | MYL4 | c.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) | |
17 | g.47221759A>G | CA400022324 | MYL4 | c.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 |
17 | g.47221759A>T | CA400022325 | MYL4 | c.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) | |
17 | g.47221760C>A | CA400022326 | MYL4 | c.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 |
17 | g.47221760C>G | CA400022327 | MYL4 | c.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 |
17 | g.47221760C>T | CA400022328 | MYL4 | c.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 |
17 | g.47221761C>A | CA500433899 | MYL4 | c.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 |
17 | g.47221761C= | CA2262577612 | MYL4 | c.393C= (p.Thr131=) c.104C= c.*179C= (n.*179C=) c.486C= (p.Thr162=) c.343C= (p.Leu115=) c.183C= (p.Thr61=) | |
17 | g.47221761C>G | CA500433896 | MYL4 | c.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=) | |
17 | g.47221761C>T | CA500433897 | MYL4 | c.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 |
17 | g.47221762T>A | CA400022329 | MYL4 | c.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 |
17 | g.47221762T>C | CA400022332 | MYL4 | c.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) | |
17 | g.47221762T>G | CA400022334 | MYL4 | c.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) | |
17 | g.47221763A= | CA2262577613 | MYL4 | c.395A= (p.Tyr132=) c.106A= c.*181A= (n.*181A=) c.488A= (p.Tyr163=) c.345A= (p.Leu115=) c.185A= (p.Tyr62=) | |
17 | g.47221763A>C | CA400022339 | MYL4 | c.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) | |
17 | g.47221763A>G | CA400022337 | MYL4 | c.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) | |
17 | g.47221763A>T | CA8622734 | MYL4 | c.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 |
17 | g.47221764T>A | CA400022341 | MYL4 | c.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) | |
17 | g.47221764T>C | CA8622735 | MYL4 | c.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 |
17 | g.47221764T>G | CA400022343 | MYL4 | c.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) | |
17 | g.47221764T= | CA2262577614 | MYL4 | c.396T= (p.Tyr132=) c.107T= c.*182T= (n.*182T=) c.489T= (p.Tyr163=) c.346T= (p.Ter116=) c.186T= (p.Tyr62=) | |
17 | g.47221765G>A | CA400022347 | MYL4 | c.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) | |
17 | g.47221765G>C | CA400022349 | MYL4 | c.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) | |
17 | g.47221765G>T | CA400022350 | MYL4 | c.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) | |
17 | g.47221766A>C | CA400022354 | MYL4 | c.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) | |
17 | g.47221766A>G | CA400022356 | MYL4 | c.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) | |
17 | g.47221766A>T | CA400022357 | MYL4 | c.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) | |
17 | g.47221767G>A | CA500433905 | MYL4 | c.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 |
17 | g.47221767G>C | CA400022359 | MYL4 | c.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) | |
17 | g.47221767G>T | CA400022361 | MYL4 | c.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) | |
17 | g.47221768G>A | CA400022363 | MYL4 | c.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) | |
17 | g.47221768G>C | CA400022365 | MYL4 | c.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) | |
17 | g.47221768G>T | CA400022367 | MYL4 | c.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) | |
17 | g.47221769A>C | CA400022369 | MYL4 | c.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) | |
17 | g.47221769A>G | CA400022371 | MYL4 | c.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) | |
17 | g.47221769A>T | CA400022373 | MYL4 | c.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) | |
17 | g.47221770C>A | CA400022376 | MYL4 | c.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) | |
17 | g.47221770C= | CA2262577615 | MYL4 | c.402C= (p.Asp134=) c.113C= c.*188C= (n.*188C=) c.495C= (p.Asp165=) c.*4C= (n.*4C=) c.192C= (p.Asp64=) | |
17 | g.47221770C>G | CA400022377 | MYL4 | c.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) | |
17 | g.47221770C>T | CA500433909 | MYL4 | c.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 |
17 | g.47221771T>A | CA400022380 | MYL4 | c.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 |
17 | g.47221771T>C | CA400022382 | MYL4 | c.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) | |
17 | g.47221771T>G | CA400022384 | MYL4 | c.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) | |
17 | g.47221771T= | CA2262577616 | MYL4 | c.403T= (p.Phe135=) c.114T= c.*189T= (n.*189T=) c.496T= (p.Phe166=) c.*5T= (n.*5T=) c.193T= (p.Phe65=) | |
17 | g.47221772T>A | CA400022386 | MYL4 | c.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) | |
17 | g.47221772T>C | CA400022388 | MYL4 | c.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) | |
17 | g.47221772T>G | CA400022391 | MYL4 | c.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) | |
17 | g.47221773C>A | CA291225741 | MYL4 | c.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 |
17 | g.47221773C= | CA2262577617 | MYL4 | c.405C= (p.Phe135=) c.116C= c.*191C= (n.*191C=) c.498C= (p.Phe166=) c.*7C= (n.*7C=) c.195C= (p.Phe65=) | |
17 | g.47221773C>G | CA400022394 | MYL4 | c.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) | |
17 | g.47221773C>T | CA8622736 | MYL4 | c.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 |
17 | g.47221774G>A | CA8622737 | MYL4 | c.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 |
17 | g.47221774G>C | CA400022398 | MYL4 | c.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 |
17 | g.47221774G= | CA2262577618 | MYL4 | c.406G= (p.Val136=) c.117G= c.*192G= (n.*192G=) c.499G= (p.Val167=) c.*8G= (n.*8G=) c.196G= (p.Val66=) | |
17 | g.47221774G>T | CA400022400 | MYL4 | c.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 |
17 | g.47221775T>A | CA400022403 | MYL4 | c.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) | |
17 | g.47221775T>C | CA400022406 | MYL4 | c.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 |
17 | g.47221775T>G | CA400022405 | MYL4 | c.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) | |
17 | g.47221776G>A | CA500433922 | MYL4 | c.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=) | |
17 | g.47221776G>C | CA500433923 | MYL4 | c.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=) | |
17 | g.47221776G>T | CA500433924 | MYL4 | c.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=) | |
17 | g.47221777G>A | CA400022409 | MYL4 | c.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) | |
17 | g.47221777G>C | CA400022411 | MYL4 | c.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) | |
17 | g.47221777G>T | CA400022413 | MYL4 | c.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) | |
17 | g.47221778A>C | CA400022415 | MYL4 | c.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) | |
17 | g.47221778A>G | CA400022418 | MYL4 | c.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) | |
17 | g.47221778A>T | CA400022420 | MYL4 | c.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) | |
17 | g.47221779G>A | CA500433930 | MYL4 | c.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=) | |
17 | g.47221779G>C | CA400022422 | MYL4 | c.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) | |
17 | g.47221779G>T | CA400022424 | MYL4 | c.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) | |
17 | g.47221780G>A | CA400022426 | MYL4 | c.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) | |
17 | g.47221780G>C | CA400022428 | MYL4 | c.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) | |
17 | g.47221780G>T | CA400022430 | MYL4 | c.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) | |
17 | g.47221781G>A | CA400022436 | MYL4 | c.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 |
17 | g.47221781G>C | CA400022435 | MYL4 | c.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) | |
17 | g.47221781G>T | CA400022433 | MYL4 | c.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) | |
17 | g.47221782C>A | CA500433943 | MYL4 | c.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=) | |
17 | g.47221782C= | CA2262577619 | MYL4 | c.414C= (p.Gly138=) c.125C= c.*200C= (n.*200C=) c.507C= (p.Gly169=) c.*16C= (n.*16C=) c.204C= (p.Gly68=) | |
17 | g.47221782C>G | CA500433941 | MYL4 | c.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=) | |
17 | g.47221782C>T | CA291225744 | MYL4 | c.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 |
17 | g.47221783C>A | CA400022438 | MYL4 | c.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) | |
17 | g.47221783C= | CA2262577620 | MYL4 | c.415C= (p.Leu139=) c.126C= c.*201C= (n.*201C=) c.508C= (p.Leu170=) c.*17C= (n.*17C=) c.205C= (p.Leu69=) | |
17 | g.47221783C>G | CA400022440 | MYL4 | c.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) | |
17 | g.47221783C>T | CA500433944 | MYL4 | c.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 |
17 | g.47221784T>A | CA400022442 | MYL4 | c.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) | |
17 | g.47221784T>C | CA400022444 | MYL4 | c.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 |
17 | g.47221784T>G | CA400022446 | MYL4 | c.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) | |
17 | g.47221784T= | CA2262577621 | MYL4 | c.416T= (p.Leu139=) c.127T= c.*202T= (n.*202T=) c.509T= (p.Leu170=) c.*18T= (n.*18T=) c.206T= (p.Leu69=) | |
17 | g.47221785G>A | CA500433952 | MYL4 | c.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=) | |
17 | g.47221785G>C | CA500433951 | MYL4 | c.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=) | |
17 | g.47221785G>T | CA500433953 | MYL4 | c.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=) | |
17 | g.47221785_47221787dup | CA2638433047 | MYL4 | c.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 |
17 | g.47221786C>A | CA400022449 | MYL4 | c.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) | |
17 | g.47221786C= | CA2262577622 | MYL4 | c.418C= (p.Arg140=) c.129C= c.*204C= (n.*204C=) c.511C= (p.Arg171=) c.*20C= (n.*20C=) c.208C= (p.Arg70=) | |
17 | g.47221786C>G | CA400022451 | MYL4 | c.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 |
17 | g.47221786C>T | CA8622738 | MYL4 | c.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 |
17 | g.47221787G>A | CA8622739 | MYL4 | c.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 |
17 | g.47221787G>C | CA400022455 | MYL4 | c.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) | |
17 | g.47221787G= | CA2262577623 | MYL4 | c.419G= (p.Arg140=) c.130G= c.*205G= (n.*205G=) c.512G= (p.Arg171=) c.*21G= (n.*21G=) c.209G= (p.Arg70=) | |
17 | g.47221787G>T | CA400022457 | MYL4 | c.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) | |
17 | g.47221788T>A | CA500433962 | MYL4 | c.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=) | |
17 | g.47221788T>C | CA500433965 | MYL4 | c.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=) | |
17 | g.47221788T>G | CA500433963 | MYL4 | c.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 |
17 | g.47221789G>A | CA400022462 | MYL4 | c.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) | |
17 | g.47221789G>C | CA400022464 | MYL4 | c.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) | |
17 | g.47221789G>T | CA400022460 | MYL4 | c.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) | |
17 | g.47221790T>A | CA400022470 | MYL4 | c.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) | |
17 | g.47221790T>C | CA400022466 | MYL4 | c.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) | |
17 | g.47221790T>G | CA400022468 | MYL4 | c.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) | |
17 | g.47221791C>A | CA500433970 | MYL4 | c.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=) | |
17 | g.47221791C= | CA2262577624 | MYL4 | c.423C= (p.Val141=) c.134C= c.*209C= (n.*209C=) c.516C= (p.Val172=) c.*25C= (n.*25C=) c.213C= (p.Val71=) | |
17 | g.47221791C>G | CA500433973 | MYL4 | c.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 |
17 | g.47221791C>T | CA500433971 | MYL4 | c.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=) | |
17 | g.47221792T>A | CA400022472 | MYL4 | c.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) | |
17 | g.47221792T>C | CA400022473 | MYL4 | c.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) | |
17 | g.47221792T>G | CA400022475 | MYL4 | c.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) | |
17 | g.47221793T>A | CA400022477 | MYL4 | c.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) | |
17 | g.47221793T>C | CA400022479 | MYL4 | c.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) | |
17 | g.47221793T>G | CA400022481 | MYL4 | c.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) | |
17 | g.47221794T>A | CA400022483 | MYL4 | c.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) | |
17 | g.47221794T>C | CA500433976 | MYL4 | c.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=) | |
17 | g.47221794T>G | CA400022485 | MYL4 | c.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) | |
17 | g.47221795G>A | CA400022488 | MYL4 | c.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 |
17 | g.47221795G>C | CA400022490 | MYL4 | c.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) | |
17 | g.47221795G>T | CA400022491 | MYL4 | c.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) | |
17 | g.47221796A= | CA2262577625 | MYL4 | c.428A= (p.Asp143=) c.139A= c.*214A= (n.*214A=) c.521A= c.*30A= (n.*30A=) c.218A= (p.Asp73=) c.521A= (p.Asp174=) | |
17 | g.47221796A>C | CA400022493 | MYL4 | c.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) | |
17 | g.47221796A>G | CA291225746 | MYL4 | c.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 |
17 | g.47221796A>T | CA400022495 | MYL4 | c.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) | |
17 | g.47221797C>A | CA400022497 | MYL4 | c.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) | |
17 | g.47221797C= | CA2262577626 | MYL4 | c.429C= (p.Asp143=) c.140C= c.*215C= (n.*215C=) c.*31C= (n.*31C=) c.219C= (p.Asp73=) c.522C= (p.Asp174=) | |
17 | g.47221797C>G | CA400022499 | MYL4 | c.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) | |
17 | g.47221797C>T | CA8622740 | MYL4 | c.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 |
17 | g.47221798A= | CA2262577627 | MYL4 | c.430A= (p.Lys144=) c.141A= c.*216A= (n.*216A=) c.*32A= (n.*32A=) c.220A= (p.Lys74=) c.523A= (p.Lys175=) | |
17 | g.47221798A>C | CA400022501 | MYL4 | c.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) | |
17 | g.47221798A>G | CA400022503 | MYL4 | c.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 |
17 | g.47221798A>T | CA400022505 | MYL4 | c.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) | |
17 | g.47221799A>C | CA400022507 | MYL4 | c.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) | |
17 | g.47221799A>G | CA400022509 | MYL4 | c.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) | |
17 | g.47221799A>T | CA400022511 | MYL4 | c.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) | |
17 | g.47221800G>A | CA500433993 | MYL4 | c.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=) | |
17 | g.47221800G>C | CA400022512 | MYL4 | c.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) | |
17 | g.47221800G>T | CA400022514 | MYL4 | c.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) | |
17 | g.47221801G>A | CA400022517 | MYL4 | c.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) | |
17 | g.47221801G>C | CA400022519 | MYL4 | c.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) | |
17 | g.47221801G>T | CA400022516 | MYL4 | c.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) | |
17 | g.47221802A>C | CA400022522 | MYL4 | c.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) | |
17 | g.47221802A>G | CA400022524 | MYL4 | c.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) | |
17 | g.47221802A>T | CA400022525 | MYL4 | c.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) | |
17 | g.47221803G>A | CA8622741 | MYL4 | c.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 |
17 | g.47221803G>C | CA400022529 | MYL4 | c.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 |
17 | g.47221803G= | CA2262577628 | MYL4 | c.435G= (p.Glu145=) c.146G= c.*221G= (n.*221G=) c.*37G= (n.*37G=) c.225G= (p.Glu75=) c.528G= (p.Glu176=) | |
17 | g.47221803G>T | CA400022530 | MYL4 | c.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) | |
17 | g.47221804A>C | CA400022533 | MYL4 | c.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) | |
17 | g.47221804A>G | CA400022535 | MYL4 | c.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) | |
17 | g.47221804A>T | CA400022536 | MYL4 | c.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) | |
17 | g.47221805G>A | CA8622742 | MYL4 | c.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 |
17 | g.47221805G>C | CA400022539 | MYL4 | c.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) | |
17 | g.47221805G= | CA2262577629 | MYL4 | c.437G= (p.Ser146=) c.148G= c.*223G= (n.*223G=) c.*39G= (n.*39G=) c.227G= (p.Ser76=) c.530G= (p.Ser177=) | |
17 | g.47221805G>T | CA400022541 | MYL4 | c.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) | |
17 | g.47221806C>A | CA400022544 | MYL4 | c.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) | |
17 | g.47221806C>G | CA400022545 | MYL4 | c.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) | |
17 | g.47221806C>T | CA500434001 | MYL4 | c.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=) | |
17 | g.47221807A>C | CA400022552 | MYL4 | c.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) | |
17 | g.47221807A>G | CA400022550 | MYL4 | c.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 |
17 | g.47221807A>T | CA400022548 | MYL4 | c.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) | |
17 | g.47221808A>C | CA400022554 | MYL4 | c.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) | |
17 | g.47221808A>G | CA400022556 | MYL4 | c.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) | |
17 | g.47221808A>T | CA400022558 | MYL4 | c.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) | |
17 | g.47221809T>A | CA400022560 | MYL4 | c.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) | |
17 | g.47221809T>C | CA500434006 | MYL4 | c.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 |
17 | g.47221809T>G | CA400022562 | MYL4 | c.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) | |
17 | g.47221809T= | CA2262577630 | MYL4 | c.441T= (p.Asn147=) c.152T= c.*227T= (n.*227T=) c.*43T= (n.*43T=) c.231T= (p.Asn77=) c.534T= (p.Asn178=) | |
17 | g.47221810G>A | CA400022564 | MYL4 | c.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) | |
17 | g.47221810G>C | CA400022566 | MYL4 | c.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) | |
17 | g.47221810G>T | CA400022568 | MYL4 | c.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) | |
17 | g.47221811G>A | CA400022570 | MYL4 | c.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 |
17 | g.47221811G>C | CA400022572 | MYL4 | c.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) | |
17 | g.47221811G= | CA2262577631 | MYL4 | c.443G= (p.Gly148=) c.154G= c.*229G= (n.*229G=) c.*45G= (n.*45G=) c.233G= (p.Gly78=) c.536G= (p.Gly179=) | |
17 | g.47221811G>T | CA400022574 | MYL4 | c.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 |
17 | g.47221812C>A | CA500434012 | MYL4 | c.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=) | |
17 | g.47221812C>G | CA500434014 | MYL4 | c.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=) | |
17 | g.47221812C>T | CA500434015 | MYL4 | c.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=) | |
17 | g.47221813A= | CA2262577632 | MYL4 | c.445A= (p.Thr149=) c.156A= c.*231A= (n.*231A=) c.*47A= (n.*47A=) c.235A= (p.Thr79=) c.538A= (p.Thr180=) | |
17 | g.47221813A>C | CA400022577 | MYL4 | c.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) | |
17 | g.47221813A>G | CA400022579 | MYL4 | c.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) | |
17 | g.47221813A>T | CA400022581 | MYL4 | c.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 |
17 | g.47221814C>A | CA400022586 | MYL4 | c.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) | |
17 | g.47221814C= | CA2262577633 | MYL4 | c.446C= (p.Thr149=) c.157C= c.*232C= (n.*232C=) c.*48C= (n.*48C=) c.236C= (p.Thr79=) c.539C= (p.Thr180=) | |
17 | g.47221814C>G | CA400022588 | MYL4 | c.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) | |
17 | g.47221814C>T | CA8622743 | MYL4 | c.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 |
17 | g.47221815G>A | CA8622744 | MYL4 | c.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 |
17 | g.47221815G>C | CA500434021 | MYL4 | c.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=) | |
17 | g.47221815G= | CA2262577634 | MYL4 | c.447G= (p.Thr149=) c.158G= c.*233G= (n.*233G=) c.*49G= (n.*49G=) c.237G= (p.Thr79=) c.540G= (p.Thr180=) | |
17 | g.47221815G>T | CA500434018 | MYL4 | c.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 |
17 | g.47221816G>A | CA400022592 | MYL4 | c.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 |
17 | g.47221816G>C | CA400022596 | MYL4 | c.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) | |
17 | g.47221816G= | CA2262577635 | MYL4 | c.448G= (p.Val150=) c.159G= c.*234G= (n.*234G=) c.*50G= (n.*50G=) c.238G= (p.Val80=) c.541G= (p.Val181=) | |
17 | g.47221816G>T | CA400022594 | MYL4 | c.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 |
17 | g.47221817T>A | CA400022599 | MYL4 | c.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) | |
17 | g.47221817T>C | CA400022602 | MYL4 | c.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) | |
17 | g.47221817T>G | CA400022601 | MYL4 | c.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) | |
17 | g.47221818C>A | CA500434027 | MYL4 | c.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=) | |
17 | g.47221818C>G | CA500434026 | MYL4 | c.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=) | |
17 | g.47221818C>T | CA500434025 | MYL4 | c.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=) | |
17 | g.47221819A>C | CA400022606 | MYL4 | c.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) | |
17 | g.47221819A>G | CA400022608 | MYL4 | c.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) | |
17 | g.47221819A>T | CA400022607 | MYL4 | c.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) | |
17 | g.47221820T>A | CA400022610 | MYL4 | c.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) | |
17 | g.47221820T>C | CA400022613 | MYL4 | c.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) | |
17 | g.47221820T>G | CA400022611 | MYL4 | c.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) | |
17 | g.47221820_47221821delinsTG | CA2262577636 | MYL4 | c.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=) | |
17 | g.47221821G>A | CA400022616 | MYL4 | c.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) | |
17 | g.47221821G>C | CA400022618 | MYL4 | c.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) | |
17 | g.47221821G>T | CA400022620 | MYL4 | c.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) | |
17 | g.47221823del | CA8622745 | MYL4 | c.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 |
17 | g.47221822G>A | CA400022622 | MYL4 | c.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) | |
17 | g.47221822G>C | CA400022624 | MYL4 | c.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) | |
17 | g.47221822G= | CA2262577637 | MYL4 | c.454G= (p.Gly152=) c.165G= c.*240G= (n.*240G=) c.*56G= (n.*56G=) c.244G= (p.Gly82=) c.547G= (p.Gly183=) | |
17 | g.47221822G>T | CA400022626 | MYL4 | c.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 |
17 | g.47221823G>A | CA400022628 | MYL4 | c.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 |
17 | g.47221823G>C | CA400022630 | MYL4 | c.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) | |
17 | g.47221823G= | CA2262577638 | MYL4 | c.455G= (p.Gly152=) c.166G= c.*241G= (n.*241G=) c.*57G= (n.*57G=) c.245G= (p.Gly82=) c.548G= (p.Gly183=) | |
17 | g.47221823G>T | CA400022632 | MYL4 | c.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) | |
17 | g.47221824T>A | CA500434034 | MYL4 | c.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=) | |
17 | g.47221824T>C | CA500434036 | MYL4 | c.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=) | |
17 | g.47221824T>G | CA500434035 | MYL4 | c.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=) | |
17 | g.47221825G>A | CA400022634 | MYL4 | c.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) | |
17 | g.47221825G>C | CA400022636 | MYL4 | c.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) | |
17 | g.47221825G>T | CA400022638 | MYL4 | c.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) | |
17 | g.47221826C>A | CA400022644 | MYL4 | c.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) | |
17 | g.47221826C>G | CA400022642 | MYL4 | c.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) | |
17 | g.47221826C>T | CA400022640 | MYL4 | c.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) | |
17 | g.47221827T>A | CA500434041 | MYL4 | c.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=) | |
17 | g.47221827T>C | CA500434040 | MYL4 | c.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=) | |
17 | g.47221827T>G | CA500434038 | MYL4 | c.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=) | |
17 | g.47221828G>A | CA400022646 | MYL4 | c.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) | |
17 | g.47221828G>C | CA400022648 | MYL4 | c.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) | |
17 | g.47221828G>T | CA400022650 | MYL4 | c.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) | |
17 | g.47221829A>C | CA400022653 | MYL4 | c.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) | |
17 | g.47221829A>G | CA400022655 | MYL4 | c.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) | |
17 | g.47221829A>T | CA400022657 | MYL4 | c.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) | |
17 | g.47221830G>A | CA500434044 | MYL4 | c.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=) | |
17 | g.47221830G>C | CA400022659 | MYL4 | c.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) | |
17 | g.47221830G>T | CA400022661 | MYL4 | c.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) | |
17 | g.47221831C>A | CA400022664 | MYL4 | c.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) | |
17 | g.47221831C>G | CA400022665 | MYL4 | c.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) | |
17 | g.47221831C>T | CA400022668 | MYL4 | c.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 |
17 | g.47221832T>A | CA400022675 | MYL4 | c.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) | |
17 | g.47221832T>C | CA400022673 | MYL4 | c.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) | |
17 | g.47221832T>G | CA400022671 | MYL4 | c.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 |
17 | g.47221832T= | CA2262577639 | MYL4 | c.464T= (p.Leu155=) c.175T= c.*250T= (n.*250T=) c.*66T= (n.*66T=) c.254T= (p.Leu85=) c.557T= (p.Leu186=) | |
17 | g.47221833T>A | CA500434052 | MYL4 | c.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=) | |
17 | g.47221833T>C | CA500434053 | MYL4 | c.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=) | |
17 | g.47221833T>G | CA500434054 | MYL4 | c.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=) | |
17 | g.47221834C>A | CA500434057 | MYL4 | c.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=) | |
17 | g.47221834C= | CA2262577640 | MYL4 | c.466C= (p.Arg156=) c.177C= c.*252C= (n.*252C=) c.*68C= (n.*68C=) c.256C= (p.Arg86=) c.559C= (p.Arg187=) | |
17 | g.47221834C>G | CA400022677 | MYL4 | c.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) | |
17 | g.47221834C>T | CA8622746 | MYL4 | c.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 |
17 | g.47221835G>A | CA8622747 | MYL4 | c.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 |
17 | g.47221835G>C | CA400022681 | MYL4 | c.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) | |
17 | g.47221835G= | CA2262577641 | MYL4 | c.467G= (p.Arg156=) c.178G= c.*253G= (n.*253G=) c.*69G= (n.*69G=) c.257G= (p.Arg86=) c.560G= (p.Arg187=) | |
17 | g.47221835G>T | CA400022683 | MYL4 | c.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) | |
17 | g.47221836G>A | CA500434062 | MYL4 | c.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=) | |
17 | g.47221836G>C | CA500434064 | MYL4 | c.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 |
17 | g.47221836G>T | CA500434060 | MYL4 | c.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=) | |
17 | g.47221837C>A | CA400022685 | MYL4 | c.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) | |
17 | g.47221837C>G | CA400022687 | MYL4 | c.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 |
17 | g.47221837C>T | CA400022689 | MYL4 | c.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) | |
17 | g.47221838A= | CA2262577642 | MYL4 | c.470A= (p.His157=) c.181A= c.*256A= (n.*256A=) c.*72A= (n.*72A=) c.260A= (p.His87=) c.563A= (p.His188=) | |
17 | g.47221838A>C | CA400022691 | MYL4 | c.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 |
17 | g.47221838A>G | CA400022693 | MYL4 | c.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) | |
17 | g.47221838A>T | CA400022695 | MYL4 | c.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) | |
17 | g.47221839C>A | CA400022701 | MYL4 | c.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) | |
17 | g.47221839C= | CA2262577643 | MYL4 | c.471C= (p.His157=) c.182C= c.*257C= (n.*257C=) c.*73C= (n.*73C=) c.261C= (p.His87=) c.564C= (p.His188=) | |
17 | g.47221839C>G | CA400022698 | MYL4 | c.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 |
17 | g.47221839C>T | CA8622748 | MYL4 | c.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 |
17 | g.47221840G>A | CA8622749 | MYL4 | c.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 |
17 | g.47221840G>C | CA400022704 | MYL4 | c.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) | |
17 | g.47221840G= | CA2262577644 | MYL4 | c.472G= (p.Val158=) c.183G= c.*258G= (n.*258G=) c.*74G= (n.*74G=) c.262G= (p.Val88=) c.565G= (p.Val189=) | |
17 | g.47221840G>T | CA400022705 | MYL4 | c.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 |
17 | g.47221841T>A | CA400022706 | MYL4 | c.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) | |
17 | g.47221841T>C | CA400022707 | MYL4 | c.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) | |
17 | g.47221841T>G | CA400022709 | MYL4 | c.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) | |
17 | g.47221842C>A | CA500434074 | MYL4 | c.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=) | |
17 | g.47221842C>G | CA500434075 | MYL4 | c.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=) | |
17 | g.47221842C>T | CA500434076 | MYL4 | c.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 |
17 | g.47221843C>A | CA400022712 | MYL4 | c.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) | |
17 | g.47221843C>G | CA400022713 | MYL4 | c.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 |
17 | g.47221843C>T | CA400022715 | MYL4 | c.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) | |
17 | g.47221844T>A | CA400022718 | MYL4 | c.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) | |
17 | g.47221844T>C | CA400022719 | MYL4 | c.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) | |
17 | g.47221844T>G | CA400022721 | MYL4 | c.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) | |
17 | g.47221845T>A | CA500434080 | MYL4 | c.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=) | |
17 | g.47221845T>C | CA500434084 | MYL4 | c.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=) | |
17 | g.47221845T>G | CA500434081 | MYL4 | c.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=) | |
17 | g.47221846G>A | CA400022726 | MYL4 | c.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) | |
17 | g.47221846G>C | CA400022728 | MYL4 | c.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) | |
17 | g.47221846G>T | CA400022724 | MYL4 | c.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) | |
17 | g.47221847C>A | CA400022735 | MYL4 | c.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) | |
17 | g.47221847C= | CA2262577645 | MYL4 | c.479C= (p.Ala160=) c.190C= c.*265C= (n.*265C=) c.*81C= (n.*81C=) c.269C= (p.Ala90=) c.572C= (p.Ala191=) | |
17 | g.47221847C>G | CA400022731 | MYL4 | c.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) | |
17 | g.47221847C>T | CA400022733 | MYL4 | c.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 |
17 | g.47221848C>A | CA500434088 | MYL4 | c.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=) | |
17 | g.47221848C>G | CA500434091 | MYL4 | c.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=) | |
17 | g.47221848C>T | CA500434090 | MYL4 | c.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=) | |
17 | g.47221849A>C | CA400022737 | MYL4 | c.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) | |
17 | g.47221849A>G | CA400022738 | MYL4 | c.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) | |
17 | g.47221849A>T | CA400022740 | MYL4 | c.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 |
17 | g.47221850C>A | CA400022743 | MYL4 | c.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) | |
17 | g.47221850C>G | CA400022745 | MYL4 | c.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) | |
17 | g.47221850C>T | CA400022747 | MYL4 | c.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 |
17 | g.47221851C>A | CA500434103 | MYL4 | c.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=) | |
17 | g.47221851C>G | CA500434104 | MYL4 | c.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=) | |
17 | g.47221851C>T | CA500434102 | MYL4 | c.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 |
17 | g.47221851_47221852insATGGGTATGCCAG | CA2638433048 | MYL4 | c.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 |
17 | g.47221852C>A | CA400022750 | MYL4 | c.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 |
17 | g.47221852C>G | CA400022751 | MYL4 | c.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) | |
17 | g.47221852C>T | CA500434108 | MYL4 | c.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=) | |
17 | g.47221853T>A | CA400022754 | MYL4 | c.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 |
17 | g.47221853T>C | CA400022755 | MYL4 | c.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) | |
17 | g.47221853T>G | CA400022758 | MYL4 | c.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 |