| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156671G>A | CA381931761 | MYO7A | c.482G>A (p.Gly161Glu) c.449G>A (p.Gly150Glu) c.224G>A (p.Gly75Glu) n.802G>A n.804G>A c.572G>A (p.Gly191Glu) n.587G>A | gnomAD v4 |
| 11 | g.77156671G>C | CA381931759 | MYO7A | c.482G>C (p.Gly161Ala) c.449G>C (p.Gly150Ala) c.224G>C (p.Gly75Ala) n.802G>C n.804G>C c.572G>C (p.Gly191Ala) n.587G>C | |
| 11 | g.77156671G>T | CA381931760 | MYO7A | c.482G>T (p.Gly161Val) c.449G>T (p.Gly150Val) c.224G>T (p.Gly75Val) n.802G>T n.804G>T c.572G>T (p.Gly191Val) n.587G>T | |
| 11 | g.77156672G>A | CA475886854 | MYO7A | c.483G>A (p.Gly161=) c.450G>A (p.Gly150=) c.225G>A (p.Gly75=) n.803G>A n.805G>A c.573G>A (p.Gly191=) n.588G>A | |
| 11 | g.77156672G>C | CA6197156 | MYO7A | c.483G>C (p.Gly161=) c.450G>C (p.Gly150=) c.225G>C (p.Gly75=) n.803G>C n.805G>C c.573G>C (p.Gly191=) n.588G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77156672G= | CA1984095128 | MYO7A | c.483G= (p.Gly161=) c.450G= (p.Gly150=) c.225G= (p.Gly75=) n.803G= n.805G= c.573G= (p.Gly191=) n.588G= | |
| 11 | g.77156672G>T | CA475886856 | MYO7A | c.483G>T (p.Gly161=) c.450G>T (p.Gly150=) c.225G>T (p.Gly75=) n.803G>T n.805G>T c.573G>T (p.Gly191=) n.588G>T | gnomAD v4 |
| 11 | g.77156673G>A | CA132357 | MYO7A | c.484G>A (p.Ala162Thr) c.451G>A (p.Ala151Thr) c.226G>A (p.Ala76Thr) n.804G>A n.806G>A c.574G>A (p.Ala192Thr) n.589G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77156673G>C | CA381931762 | MYO7A | c.484G>C (p.Ala162Pro) c.451G>C (p.Ala151Pro) c.226G>C (p.Ala76Pro) n.804G>C n.806G>C c.574G>C (p.Ala192Pro) n.589G>C | |
| 11 | g.77156673G= | CA1984095143 | MYO7A | c.484G= (p.Ala162=) c.451G= (p.Ala151=) c.226G= (p.Ala76=) n.804G= n.806G= c.574G= (p.Ala192=) n.589G= | |
| 11 | g.77156673G>T | CA381931763 | MYO7A | c.484G>T (p.Ala162Ser) c.451G>T (p.Ala151Ser) c.226G>T (p.Ala76Ser) n.804G>T n.806G>T c.574G>T (p.Ala192Ser) n.589G>T | |
| 11 | g.77156674C>A | CA381931764 | MYO7A | c.485C>A (p.Ala162Asp) c.452C>A (p.Ala151Asp) c.227C>A (p.Ala76Asp) n.805C>A n.807C>A c.575C>A (p.Ala192Asp) n.590C>A | dbSNP |
| 11 | g.77156674C= | CA1984095150 | MYO7A | c.485C= (p.Ala162=) c.452C= (p.Ala151=) c.227C= (p.Ala76=) n.805C= n.807C= c.575C= (p.Ala192=) n.590C= | |
| 11 | g.77156674C>G | CA381931765 | MYO7A | c.485C>G (p.Ala162Gly) c.452C>G (p.Ala151Gly) c.227C>G (p.Ala76Gly) n.805C>G n.807C>G c.575C>G (p.Ala192Gly) n.590C>G | |
| 11 | g.77156674C>T | CA381931766 | MYO7A | c.485C>T (p.Ala162Val) c.452C>T (p.Ala151Val) c.227C>T (p.Ala76Val) n.805C>T n.807C>T c.575C>T (p.Ala192Val) n.590C>T | |
| 11 | g.77156675C>A | CA475886861 | MYO7A | c.486C>A (p.Ala162=) c.453C>A (p.Ala151=) c.228C>A (p.Ala76=) n.806C>A n.808C>A c.576C>A (p.Ala192=) n.591C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77156675C= | CA1984095156 | MYO7A | c.486C= (p.Ala162=) c.453C= (p.Ala151=) c.228C= (p.Ala76=) n.806C= n.808C= c.576C= (p.Ala192=) n.591C= | |
| 11 | g.77156675C>G | CA475886863 | MYO7A | c.486C>G (p.Ala162=) c.453C>G (p.Ala151=) c.228C>G (p.Ala76=) n.806C>G n.808C>G c.576C>G (p.Ala192=) n.591C>G | |
| 11 | g.77156675C>T | CA6197157 | MYO7A | c.486C>T (p.Ala162=) c.453C>T (p.Ala151=) c.228C>T (p.Ala76=) n.806C>T n.808C>T c.576C>T (p.Ala192=) n.591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156675_77156842delinsAG | CA2573147717 | MYO7A | c.486_593-20delinsAG c.453_560-20delinsAG c.228_335-20delinsAG n.806_913-20delinsAG n.808_915-20delinsAG c.576_683-20delinsAG n.591_698-20delinsAG | ClinVar dbSNP |
| 11 | g.77156676G>A | CA381931767 | MYO7A | c.487G>A (p.Gly163Arg) c.454G>A (p.Gly152Arg) c.229G>A (p.Gly77Arg) n.807G>A n.809G>A c.577G>A (p.Gly193Arg) n.592G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156676G>C | CA381931768 | MYO7A | c.487G>C (p.Gly163Arg) c.454G>C (p.Gly152Arg) c.229G>C (p.Gly77Arg) n.807G>C n.809G>C c.577G>C (p.Gly193Arg) n.592G>C | |
| 11 | g.77156676G= | CA1984095165 | MYO7A | c.487G= (p.Gly163=) c.454G= (p.Gly152=) c.229G= (p.Gly77=) n.807G= n.809G= c.577G= (p.Gly193=) n.592G= | |
| 11 | g.77156676G>T | CA381931769 | MYO7A | c.487G>T (p.Gly163Trp) c.454G>T (p.Gly152Trp) c.229G>T (p.Gly77Trp) n.807G>T n.809G>T c.577G>T (p.Gly193Trp) n.592G>T | |
| 11 | g.77156677G>A | CA381931772 | MYO7A | c.488G>A (p.Gly163Glu) c.455G>A (p.Gly152Glu) c.230G>A (p.Gly77Glu) n.808G>A n.810G>A c.578G>A (p.Gly193Glu) n.593G>A | COSMIC |
| 11 | g.77156677G>C | CA381931771 | MYO7A | c.488G>C (p.Gly163Ala) c.455G>C (p.Gly152Ala) c.230G>C (p.Gly77Ala) n.808G>C n.810G>C c.578G>C (p.Gly193Ala) n.593G>C | |
| 11 | g.77156677G>T | CA381931770 | MYO7A | c.488G>T (p.Gly163Val) c.455G>T (p.Gly152Val) c.230G>T (p.Gly77Val) n.808G>T n.810G>T c.578G>T (p.Gly193Val) n.593G>T | |
| 11 | g.77156678G>A | CA475886870 | MYO7A | c.489G>A (p.Gly163=) c.456G>A (p.Gly152=) c.231G>A (p.Gly77=) n.809G>A n.811G>A c.579G>A (p.Gly193=) n.594G>A | |
| 11 | g.77156678G>C | CA475886869 | MYO7A | c.489G>C (p.Gly163=) c.456G>C (p.Gly152=) c.231G>C (p.Gly77=) n.809G>C n.811G>C c.579G>C (p.Gly193=) n.594G>C | ClinVar |
| 11 | g.77156678G>T | CA475886867 | MYO7A | c.489G>T (p.Gly163=) c.456G>T (p.Gly152=) c.231G>T (p.Gly77=) n.809G>T n.811G>T c.579G>T (p.Gly193=) n.594G>T | gnomAD v4 |
| 11 | g.77156679A>C | CA381931773 | MYO7A | c.490A>C (p.Lys164Gln) c.457A>C (p.Lys153Gln) c.232A>C (p.Lys78Gln) n.810A>C n.812A>C c.580A>C (p.Lys194Gln) n.595A>C | |
| 11 | g.77156679A>G | CA381931774 | MYO7A | c.490A>G (p.Lys164Glu) c.457A>G (p.Lys153Glu) c.232A>G (p.Lys78Glu) n.810A>G n.812A>G c.580A>G (p.Lys194Glu) n.595A>G | |
| 11 | g.77156679A>T | CA381931775 | MYO7A | c.490A>T (p.Lys164Ter) c.457A>T (p.Lys153Ter) c.232A>T (p.Lys78Ter) n.810A>T n.812A>T c.580A>T (p.Lys194Ter) n.595A>T | |
| 11 | g.77156680A>C | CA381931776 | MYO7A | c.491A>C (p.Lys164Thr) c.458A>C (p.Lys153Thr) c.233A>C (p.Lys78Thr) n.811A>C n.813A>C c.581A>C (p.Lys194Thr) n.596A>C | |
| 11 | g.77156680A>G | CA381931777 | MYO7A | c.491A>G (p.Lys164Arg) c.458A>G (p.Lys153Arg) c.233A>G (p.Lys78Arg) n.811A>G n.813A>G c.581A>G (p.Lys194Arg) n.596A>G | |
| 11 | g.77156680A>T | CA381931778 | MYO7A | c.491A>T (p.Lys164Met) c.458A>T (p.Lys153Met) c.233A>T (p.Lys78Met) n.811A>T n.813A>T c.581A>T (p.Lys194Met) n.596A>T | |
| 11 | g.77156681G>A | CA475886880 | MYO7A | c.492G>A (p.Lys164=) c.459G>A (p.Lys153=) c.234G>A (p.Lys78=) n.812G>A n.814G>A c.582G>A (p.Lys194=) n.597G>A | |
| 11 | g.77156681G>C | CA381931780 | MYO7A | c.492G>C (p.Lys164Asn) c.459G>C (p.Lys153Asn) c.234G>C (p.Lys78Asn) n.812G>C n.814G>C c.582G>C (p.Lys194Asn) n.597G>C | ClinVar dbSNP |
| 11 | g.77156681G= | CA1984095176 | MYO7A | c.492G= (p.Lys164=) c.459G= (p.Lys153=) c.234G= (p.Lys78=) n.812G= n.814G= c.582G= (p.Lys194=) n.597G= | |
| 11 | g.77156681G>T | CA381931779 | MYO7A | c.492G>T (p.Lys164Asn) c.459G>T (p.Lys153Asn) c.234G>T (p.Lys78Asn) n.812G>T n.814G>T c.582G>T (p.Lys194Asn) n.597G>T | |
| 11 | g.77156682A>C | CA381931781 | MYO7A | c.493A>C (p.Thr165Pro) c.460A>C (p.Thr154Pro) c.235A>C (p.Thr79Pro) n.813A>C n.815A>C c.583A>C (p.Thr195Pro) n.598A>C | |
| 11 | g.77156682A>G | CA381931782 | MYO7A | c.493A>G (p.Thr165Ala) c.460A>G (p.Thr154Ala) c.235A>G (p.Thr79Ala) n.813A>G n.815A>G c.583A>G (p.Thr195Ala) n.598A>G | |
| 11 | g.77156682A>T | CA381931783 | MYO7A | c.493A>T (p.Thr165Ser) c.460A>T (p.Thr154Ser) c.235A>T (p.Thr79Ser) n.813A>T n.815A>T c.583A>T (p.Thr195Ser) n.598A>T | |
| 11 | g.77156683C>A | CA381931784 | MYO7A | c.494C>A (p.Thr165Lys) c.461C>A (p.Thr154Lys) c.236C>A (p.Thr79Lys) n.814C>A n.816C>A c.584C>A (p.Thr195Lys) n.599C>A | gnomAD v4 |
| 11 | g.77156683C= | CA1984095185 | MYO7A | c.494C= (p.Thr165=) c.461C= (p.Thr154=) c.236C= (p.Thr79=) n.814C= n.816C= c.584C= (p.Thr195=) n.599C= | |
| 11 | g.77156683C>G | CA381931785 | MYO7A | c.494C>G (p.Thr165Arg) c.461C>G (p.Thr154Arg) c.236C>G (p.Thr79Arg) n.814C>G n.816C>G c.584C>G (p.Thr195Arg) n.599C>G | |
| 11 | g.77156683C>T | CA278676 | MYO7A | c.494C>T (p.Thr165Met) c.461C>T (p.Thr154Met) c.236C>T (p.Thr79Met) n.814C>T n.816C>T c.584C>T (p.Thr195Met) n.599C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77156683_77156684delinsCG | CA1984095184 | MYO7A | c.494_495delinsCG (p.Thr165=) c.461_462delinsCG (p.Thr154=) c.236_237delinsCG (p.Thr79=) n.814_815delinsCG n.816_817delinsCG c.584_585delinsCG (p.Thr195=) n.599_600delinsCG | |
| 11 | g.77156684G>A | CA6197158 | MYO7A | c.495G>A (p.Thr165=) c.462G>A (p.Thr154=) c.237G>A (p.Thr79=) n.815G>A n.817G>A c.585G>A (p.Thr195=) n.600G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156684G>C | CA475886893 | MYO7A | c.495G>C (p.Thr165=) c.462G>C (p.Thr154=) c.237G>C (p.Thr79=) n.815G>C n.817G>C c.585G>C (p.Thr195=) n.600G>C |