Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77156655T>A | CA224826869 | MYO7A | c.471-5T>A (n.471-5T>A) c.438-5T>A (n.438-5T>A) c.213-5T>A (n.213-5T>A) n.791-5T>A n.793-5T>A c.561-5T>A (n.561-5T>A) n.576-5T>A | dbSNP |
11 | g.77156655T= | CA1984095077 | MYO7A | c.471-5T= (n.471-5T=) c.438-5T= (n.438-5T=) c.213-5T= (n.213-5T=) n.791-5T= n.793-5T= c.561-5T= (n.561-5T=) n.576-5T= | |
11 | g.77156656G>A | CA224826870 | MYO7A | c.471-4G>A (n.471-4G>A) c.438-4G>A (n.438-4G>A) c.213-4G>A (n.213-4G>A) n.791-4G>A n.793-4G>A c.561-4G>A (n.561-4G>A) n.576-4G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156656G= | CA1984095079 | MYO7A | c.471-4G= (n.471-4G=) c.438-4G= (n.438-4G=) c.213-4G= (n.213-4G=) n.791-4G= n.793-4G= c.561-4G= (n.561-4G=) n.576-4G= | |
11 | g.77156656G>T | CA2615251705 | MYO7A | c.471-4G>T (n.471-4G>T) c.438-4G>T (n.438-4G>T) c.213-4G>T (n.213-4G>T) n.791-4G>T n.793-4G>T c.561-4G>T (n.561-4G>T) n.576-4G>T | gnomAD v4 |
11 | g.77156657C>T | CA2574930706 | MYO7A | c.471-3C>T (n.471-3C>T) c.438-3C>T (n.438-3C>T) c.213-3C>T (n.213-3C>T) n.791-3C>T n.793-3C>T c.561-3C>T (n.561-3C>T) n.576-3C>T | |
11 | g.77156658A= | CA1984095084 | MYO7A | c.471-2A= (n.471-2A=) c.438-2A= (n.438-2A=) c.213-2A= (n.213-2A=) n.791-2A= n.793-2A= c.561-2A= (n.561-2A=) n.576-2A= | |
11 | g.77156658A>C | CA381931732 | MYO7A | c.471-2A>C (n.471-2A>C) c.438-2A>C (n.438-2A>C) c.213-2A>C (n.213-2A>C) n.791-2A>C n.793-2A>C c.561-2A>C (n.561-2A>C) n.576-2A>C | ClinVar dbSNP gnomAD v4 |
11 | g.77156658A>G | CA381931731 | MYO7A | c.471-2A>G (n.471-2A>G) c.438-2A>G (n.438-2A>G) c.213-2A>G (n.213-2A>G) n.791-2A>G n.793-2A>G c.561-2A>G (n.561-2A>G) n.576-2A>G | |
11 | g.77156658A>T | CA381931730 | MYO7A | c.471-2A>T (n.471-2A>T) c.438-2A>T (n.438-2A>T) c.213-2A>T (n.213-2A>T) n.791-2A>T n.793-2A>T c.561-2A>T (n.561-2A>T) n.576-2A>T | |
11 | g.77156659G>A | CA6197153 | MYO7A | c.471-1G>A (n.471-1G>A) c.438-1G>A (n.438-1G>A) c.213-1G>A (n.213-1G>A) n.791-1G>A n.793-1G>A c.561-1G>A (n.561-1G>A) n.576-1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156659G>C | CA381931733 | MYO7A | c.471-1G>C (n.471-1G>C) c.438-1G>C (n.438-1G>C) c.213-1G>C (n.213-1G>C) n.791-1G>C n.793-1G>C c.561-1G>C (n.561-1G>C) n.576-1G>C | |
11 | g.77156659G= | CA1984095095 | MYO7A | c.471-1G= (n.471-1G=) c.438-1G= (n.438-1G=) c.213-1G= (n.213-1G=) n.791-1G= n.793-1G= c.561-1G= (n.561-1G=) n.576-1G= | |
11 | g.77156659G>T | CA381931734 | MYO7A | c.471-1G>T (n.471-1G>T) c.438-1G>T (n.438-1G>T) c.213-1G>T (n.213-1G>T) n.791-1G>T n.793-1G>T c.561-1G>T (n.561-1G>T) n.576-1G>T | |
11 | g.77156660T>A | CA381931735 | MYO7A | c.471T>A (p.Ser157Arg) c.438T>A (p.Ser146Arg) c.213T>A (p.Ser71Arg) n.791T>A n.793T>A c.561T>A (p.Ser187Arg) n.576T>A | |
11 | g.77156660T>C | CA6197154 | MYO7A | c.471T>C (p.Ser157=) c.438T>C (p.Ser146=) c.213T>C (p.Ser71=) n.791T>C n.793T>C c.561T>C (p.Ser187=) n.576T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156660T>G | CA381931736 | MYO7A | c.471T>G (p.Ser157Arg) c.438T>G (p.Ser146Arg) c.213T>G (p.Ser71Arg) n.791T>G n.793T>G c.561T>G (p.Ser187Arg) n.576T>G | |
11 | g.77156660T= | CA1984095104 | MYO7A | c.471T= (p.Ser157=) c.438T= (p.Ser146=) c.213T= (p.Ser71=) n.791T= n.793T= c.561T= (p.Ser187=) n.576T= | |
11 | g.77156660_77156663delinsTGGG | CA1984095108 | MYO7A | c.471_474delinsTGGG (p.Ser157=) c.438_441delinsTGGG (p.Ser146=) c.213_216delinsTGGG (p.Ser71=) n.791_794delinsTGGG n.793_796delinsTGGG c.561_564delinsTGGG (p.Ser187=) n.576_579delinsTGGG | |
11 | g.77156661G>A | CA381931737 | MYO7A | c.472G>A (p.Gly158Arg) c.439G>A (p.Gly147Arg) c.214G>A (p.Gly72Arg) n.792G>A n.794G>A c.562G>A (p.Gly188Arg) n.577G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156661G>C | CA381931738 | MYO7A | c.472G>C (p.Gly158Arg) c.439G>C (p.Gly147Arg) c.214G>C (p.Gly72Arg) n.792G>C n.794G>C c.562G>C (p.Gly188Arg) n.577G>C | |
11 | g.77156661G= | CA1984095110 | MYO7A | c.472G= (p.Gly158=) c.439G= (p.Gly147=) c.214G= (p.Gly72=) n.792G= n.794G= c.562G= (p.Gly188=) n.577G= | |
11 | g.77156661G>T | CA381931739 | MYO7A | c.472G>T (p.Gly158Trp) c.439G>T (p.Gly147Trp) c.214G>T (p.Gly72Trp) n.792G>T n.794G>T c.562G>T (p.Gly188Trp) n.577G>T | COSMIC |
11 | g.77156662_77156664del | CA680363043 | MYO7A | c.473_475del (p.Gly158del) c.440_442del (p.Gly147del) c.215_217del (p.Gly72del) n.793_795del n.795_797del c.563_565del (p.Gly188del) n.578_580del | ClinVar dbSNP |
11 | g.77156662G>A | CA381931740 | MYO7A | c.473G>A (p.Gly158Glu) c.440G>A (p.Gly147Glu) c.215G>A (p.Gly72Glu) n.793G>A n.795G>A c.563G>A (p.Gly188Glu) n.578G>A | |
11 | g.77156662G>C | CA381931741 | MYO7A | c.473G>C (p.Gly158Ala) c.440G>C (p.Gly147Ala) c.215G>C (p.Gly72Ala) n.793G>C n.795G>C c.563G>C (p.Gly188Ala) n.578G>C | |
11 | g.77156662G>T | CA381931742 | MYO7A | c.473G>T (p.Gly158Val) c.440G>T (p.Gly147Val) c.215G>T (p.Gly72Val) n.793G>T n.795G>T c.563G>T (p.Gly188Val) n.578G>T | |
11 | g.77156663G>A | CA475886832 | MYO7A | c.474G>A (p.Gly158=) c.441G>A (p.Gly147=) c.216G>A (p.Gly72=) n.794G>A n.796G>A c.564G>A (p.Gly188=) n.579G>A | dbSNP |
11 | g.77156663G>C | CA475886833 | MYO7A | c.474G>C (p.Gly158=) c.441G>C (p.Gly147=) c.216G>C (p.Gly72=) n.794G>C n.796G>C c.564G>C (p.Gly188=) n.579G>C | |
11 | g.77156663G>T | CA475886834 | MYO7A | c.474G>T (p.Gly158=) c.441G>T (p.Gly147=) c.216G>T (p.Gly72=) n.794G>T n.796G>T c.564G>T (p.Gly188=) n.579G>T | |
11 | g.77156664G>A | CA381931743 | MYO7A | c.475G>A (p.Glu159Lys) c.442G>A (p.Glu148Lys) c.217G>A (p.Glu73Lys) n.795G>A n.797G>A c.565G>A (p.Glu189Lys) n.580G>A | |
11 | g.77156664G>C | CA381931745 | MYO7A | c.475G>C (p.Glu159Gln) c.442G>C (p.Glu148Gln) c.217G>C (p.Glu73Gln) n.795G>C n.797G>C c.565G>C (p.Glu189Gln) n.580G>C | |
11 | g.77156664G>T | CA381931744 | MYO7A | c.475G>T (p.Glu159Ter) c.442G>T (p.Glu148Ter) c.217G>T (p.Glu73Ter) n.795G>T n.797G>T c.565G>T (p.Glu189Ter) n.580G>T | |
11 | g.77156665A= | CA1984095113 | MYO7A | c.476A= (p.Glu159=) c.443A= (p.Glu148=) c.218A= (p.Glu73=) n.796A= n.798A= c.566A= (p.Glu189=) n.581A= | |
11 | g.77156665A>C | CA381931746 | MYO7A | c.476A>C (p.Glu159Ala) c.443A>C (p.Glu148Ala) c.218A>C (p.Glu73Ala) n.796A>C n.798A>C c.566A>C (p.Glu189Ala) n.581A>C | |
11 | g.77156665A>G | CA224826882 | MYO7A | c.476A>G (p.Glu159Gly) c.443A>G (p.Glu148Gly) c.218A>G (p.Glu73Gly) n.796A>G n.798A>G c.566A>G (p.Glu189Gly) n.581A>G | dbSNP |
11 | g.77156665A>T | CA381931747 | MYO7A | c.476A>T (p.Glu159Val) c.443A>T (p.Glu148Val) c.218A>T (p.Glu73Val) n.796A>T n.798A>T c.566A>T (p.Glu189Val) n.581A>T | |
11 | g.77156666A= | CA1984095119 | MYO7A | c.477A= (p.Glu159=) c.444A= (p.Glu148=) c.219A= (p.Glu73=) n.797A= n.799A= c.567A= (p.Glu189=) n.582A= | |
11 | g.77156666A>C | CA381931748 | MYO7A | c.477A>C (p.Glu159Asp) c.444A>C (p.Glu148Asp) c.219A>C (p.Glu73Asp) n.797A>C n.799A>C c.567A>C (p.Glu189Asp) n.582A>C | |
11 | g.77156666A>G | CA6197155 | MYO7A | c.477A>G (p.Glu159=) c.444A>G (p.Glu148=) c.219A>G (p.Glu73=) n.797A>G n.799A>G c.567A>G (p.Glu189=) n.582A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.77156666A>T | CA381931749 | MYO7A | c.477A>T (p.Glu159Asp) c.444A>T (p.Glu148Asp) c.219A>T (p.Glu73Asp) n.797A>T n.799A>T c.567A>T (p.Glu189Asp) n.582A>T | |
11 | g.77156667T>A | CA381931750 | MYO7A | c.478T>A (p.Ser160Thr) c.445T>A (p.Ser149Thr) c.220T>A (p.Ser74Thr) n.798T>A n.800T>A c.568T>A (p.Ser190Thr) n.583T>A | |
11 | g.77156667T>C | CA381931751 | MYO7A | c.478T>C (p.Ser160Pro) c.445T>C (p.Ser149Pro) c.220T>C (p.Ser74Pro) n.798T>C n.800T>C c.568T>C (p.Ser190Pro) n.583T>C | |
11 | g.77156667T>G | CA381931752 | MYO7A | c.478T>G (p.Ser160Ala) c.445T>G (p.Ser149Ala) c.220T>G (p.Ser74Ala) n.798T>G n.800T>G c.568T>G (p.Ser190Ala) n.583T>G | |
11 | g.77156668C>A | CA381931753 | MYO7A | c.479C>A (p.Ser160Tyr) c.446C>A (p.Ser149Tyr) c.221C>A (p.Ser74Tyr) n.799C>A n.801C>A c.569C>A (p.Ser190Tyr) n.584C>A | |
11 | g.77156668C>G | CA381931754 | MYO7A | c.479C>G (p.Ser160Cys) c.446C>G (p.Ser149Cys) c.221C>G (p.Ser74Cys) n.799C>G n.801C>G c.569C>G (p.Ser190Cys) n.584C>G | |
11 | g.77156668C>T | CA381931755 | MYO7A | c.479C>T (p.Ser160Phe) c.446C>T (p.Ser149Phe) c.221C>T (p.Ser74Phe) n.799C>T n.801C>T c.569C>T (p.Ser190Phe) n.584C>T | |
11 | g.77156669T>A | CA475886845 | MYO7A | c.480T>A (p.Ser160=) c.447T>A (p.Ser149=) c.222T>A (p.Ser74=) n.800T>A n.802T>A c.570T>A (p.Ser190=) n.585T>A | |
11 | g.77156669T>C | CA475886846 | MYO7A | c.480T>C (p.Ser160=) c.447T>C (p.Ser149=) c.222T>C (p.Ser74=) n.800T>C n.802T>C c.570T>C (p.Ser190=) n.585T>C | |
11 | g.77156669T>G | CA475886848 | MYO7A | c.480T>G (p.Ser160=) c.447T>G (p.Ser149=) c.222T>G (p.Ser74=) n.800T>G n.802T>G c.570T>G (p.Ser190=) n.585T>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156669T= | CA1984095124 | MYO7A | c.480T= (p.Ser160=) c.447T= (p.Ser149=) c.222T= (p.Ser74=) n.800T= n.802T= c.570T= (p.Ser190=) n.585T= | |
11 | g.77156670G>A | CA381931756 | MYO7A | c.481G>A (p.Gly161Arg) c.448G>A (p.Gly150Arg) c.223G>A (p.Gly75Arg) n.801G>A n.803G>A c.571G>A (p.Gly191Arg) n.586G>A | gnomAD v4 |
11 | g.77156670G>C | CA381931757 | MYO7A | c.481G>C (p.Gly161Arg) c.448G>C (p.Gly150Arg) c.223G>C (p.Gly75Arg) n.801G>C n.803G>C c.571G>C (p.Gly191Arg) n.586G>C | |
11 | g.77156670G>T | CA381931758 | MYO7A | c.481G>T (p.Gly161Trp) c.448G>T (p.Gly150Trp) c.223G>T (p.Gly75Trp) n.801G>T n.803G>T c.571G>T (p.Gly191Trp) n.586G>T | |
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 | |
11 | g.77156684G= | CA1984095201 | MYO7A | c.495G= (p.Thr165=) c.462G= (p.Thr154=) c.237G= (p.Thr79=) n.815G= n.817G= c.585G= (p.Thr195=) n.600G= | |
11 | g.77156684G>T | CA475886891 | MYO7A | c.495G>T (p.Thr165=) c.462G>T (p.Thr154=) c.237G>T (p.Thr79=) n.815G>T n.817G>T c.585G>T (p.Thr195=) n.600G>T | |
11 | g.77156685del | CA278677 | MYO7A | c.496del (p.Glu166ArgfsTer5) c.463del (p.Glu155ArgfsTer5) c.238del (p.Glu80ArgfsTer5) n.816del n.818del c.586del (p.Glu196ArgfsTer5) n.601del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156685G>A | CA381931786 | MYO7A | c.496G>A (p.Glu166Lys) c.463G>A (p.Glu155Lys) c.238G>A (p.Glu80Lys) n.816G>A n.818G>A c.586G>A (p.Glu196Lys) n.601G>A | |
11 | g.77156685G>C | CA381931787 | MYO7A | c.496G>C (p.Glu166Gln) c.463G>C (p.Glu155Gln) c.238G>C (p.Glu80Gln) n.816G>C n.818G>C c.586G>C (p.Glu196Gln) n.601G>C | |
11 | g.77156685G= | CA1984095216 | MYO7A | c.496G= (p.Glu166=) c.463G= (p.Glu155=) c.238G= (p.Glu80=) n.816G= n.818G= c.586G= (p.Glu196=) n.601G= | |
11 | g.77156685G>T | CA381931788 | MYO7A | c.496G>T (p.Glu166Ter) c.463G>T (p.Glu155Ter) c.238G>T (p.Glu80Ter) n.816G>T n.818G>T c.586G>T (p.Glu196Ter) n.601G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156686A>C | CA381931789 | MYO7A | c.497A>C (p.Glu166Ala) c.464A>C (p.Glu155Ala) c.239A>C (p.Glu80Ala) n.817A>C n.819A>C c.587A>C (p.Glu196Ala) n.602A>C | |
11 | g.77156686A>G | CA381931790 | MYO7A | c.497A>G (p.Glu166Gly) c.464A>G (p.Glu155Gly) c.239A>G (p.Glu80Gly) n.817A>G n.819A>G c.587A>G (p.Glu196Gly) n.602A>G | |
11 | g.77156686A>T | CA381931791 | MYO7A | c.497A>T (p.Glu166Val) c.464A>T (p.Glu155Val) c.239A>T (p.Glu80Val) n.817A>T n.819A>T c.587A>T (p.Glu196Val) n.602A>T | |
11 | g.77156687G>A | CA475886901 | MYO7A | c.498G>A (p.Glu166=) c.465G>A (p.Glu155=) c.240G>A (p.Glu80=) n.818G>A n.820G>A c.588G>A (p.Glu196=) n.603G>A | ClinVar dbSNP |
11 | g.77156687G>C | CA381931792 | MYO7A | c.498G>C (p.Glu166Asp) c.465G>C (p.Glu155Asp) c.240G>C (p.Glu80Asp) n.818G>C n.820G>C c.588G>C (p.Glu196Asp) n.603G>C | |
11 | g.77156687G>T | CA381931793 | MYO7A | c.498G>T (p.Glu166Asp) c.465G>T (p.Glu155Asp) c.240G>T (p.Glu80Asp) n.818G>T n.820G>T c.588G>T (p.Glu196Asp) n.603G>T | |
11 | g.77156688A>C | CA381931794 | MYO7A | c.499A>C (p.Ser167Arg) c.466A>C (p.Ser156Arg) c.241A>C (p.Ser81Arg) n.819A>C n.821A>C c.589A>C (p.Ser197Arg) n.604A>C | |
11 | g.77156688A>G | CA381931795 | MYO7A | c.499A>G (p.Ser167Gly) c.466A>G (p.Ser156Gly) c.241A>G (p.Ser81Gly) n.819A>G n.821A>G c.589A>G (p.Ser197Gly) n.604A>G | |
11 | g.77156688A>T | CA381931796 | MYO7A | c.499A>T (p.Ser167Cys) c.466A>T (p.Ser156Cys) c.241A>T (p.Ser81Cys) n.819A>T n.821A>T c.589A>T (p.Ser197Cys) n.604A>T | |
11 | g.77156689G>A | CA381931798 | MYO7A | c.500G>A (p.Ser167Asn) c.467G>A (p.Ser156Asn) c.242G>A (p.Ser81Asn) n.820G>A n.822G>A c.590G>A (p.Ser197Asn) n.605G>A | gnomAD v4 |
11 | g.77156689G>C | CA10605557 | MYO7A | c.500G>C (p.Ser167Thr) c.467G>C (p.Ser156Thr) c.242G>C (p.Ser81Thr) n.820G>C n.822G>C c.590G>C (p.Ser197Thr) n.605G>C | ClinVar dbSNP |
11 | g.77156689G= | CA1984095223 | MYO7A | c.500G= (p.Ser167=) c.467G= (p.Ser156=) c.242G= (p.Ser81=) n.820G= n.822G= c.590G= (p.Ser197=) n.605G= | |
11 | g.77156689G>T | CA381931797 | MYO7A | c.500G>T (p.Ser167Ile) c.467G>T (p.Ser156Ile) c.242G>T (p.Ser81Ile) n.820G>T n.822G>T c.590G>T (p.Ser197Ile) n.605G>T | |
11 | g.77156690C>A | CA381931799 | MYO7A | c.501C>A (p.Ser167Arg) c.468C>A (p.Ser156Arg) c.243C>A (p.Ser81Arg) n.821C>A n.823C>A c.591C>A (p.Ser197Arg) n.606C>A | COSMIC |
11 | g.77156690C>G | CA381931800 | MYO7A | c.501C>G (p.Ser167Arg) c.468C>G (p.Ser156Arg) c.243C>G (p.Ser81Arg) n.821C>G n.823C>G c.591C>G (p.Ser197Arg) n.606C>G | |
11 | g.77156690C>T | CA475886906 | MYO7A | c.501C>T (p.Ser167=) c.468C>T (p.Ser156=) c.243C>T (p.Ser81=) n.821C>T n.823C>T c.591C>T (p.Ser197=) n.606C>T | |
11 | g.77156691A= | CA1984095232 | MYO7A | c.502A= (p.Thr168=) c.469A= (p.Thr157=) c.244A= (p.Thr82=) n.822A= n.824A= c.592A= (p.Thr198=) n.607A= | |
11 | g.77156691A>C | CA381931801 | MYO7A | c.502A>C (p.Thr168Pro) c.469A>C (p.Thr157Pro) c.244A>C (p.Thr82Pro) n.822A>C n.824A>C c.592A>C (p.Thr198Pro) n.607A>C | |
11 | g.77156691A>G | CA381931802 | MYO7A | c.502A>G (p.Thr168Ala) c.469A>G (p.Thr157Ala) c.244A>G (p.Thr82Ala) n.822A>G n.824A>G c.592A>G (p.Thr198Ala) n.607A>G | COSMIC |
11 | g.77156691A>T | CA381931803 | MYO7A | c.502A>T (p.Thr168Ser) c.469A>T (p.Thr157Ser) c.244A>T (p.Thr82Ser) n.822A>T n.824A>T c.592A>T (p.Thr198Ser) n.607A>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156692C>A | CA381931804 | MYO7A | c.503C>A (p.Thr168Lys) c.470C>A (p.Thr157Lys) c.245C>A (p.Thr82Lys) n.823C>A n.825C>A c.593C>A (p.Thr198Lys) n.608C>A | |
11 | g.77156692C>G | CA381931805 | MYO7A | c.503C>G (p.Thr168Arg) c.470C>G (p.Thr157Arg) c.245C>G (p.Thr82Arg) n.823C>G n.825C>G c.593C>G (p.Thr198Arg) n.608C>G | |
11 | g.77156692C>T | CA381931806 | MYO7A | c.503C>T (p.Thr168Ile) c.470C>T (p.Thr157Ile) c.245C>T (p.Thr82Ile) n.823C>T n.825C>T c.593C>T (p.Thr198Ile) n.608C>T | |
11 | g.77156692dup | CA2839531941 | MYO7A | c.503dup (p.Leu170AlafsTer17) c.470dup (p.Leu159AlafsTer17) c.245dup (p.Leu84AlafsTer17) n.823dup n.825dup c.593dup (p.Leu200AlafsTer17) n.608dup | |
11 | g.77156693A= | CA1984095234 | MYO7A | c.504A= (p.Thr168=) c.471A= (p.Thr157=) c.246A= (p.Thr82=) n.824A= n.826A= c.594A= (p.Thr198=) n.609A= | |
11 | g.77156693A>C | CA475886911 | MYO7A | c.504A>C (p.Thr168=) c.471A>C (p.Thr157=) c.246A>C (p.Thr82=) n.824A>C n.826A>C c.594A>C (p.Thr198=) n.609A>C | |
11 | g.77156693A>G | CA475886916 | MYO7A | c.504A>G (p.Thr168=) c.471A>G (p.Thr157=) c.246A>G (p.Thr82=) n.824A>G n.826A>G c.594A>G (p.Thr198=) n.609A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156693A>T | CA475886912 | MYO7A | c.504A>T (p.Thr168=) c.471A>T (p.Thr157=) c.246A>T (p.Thr82=) n.824A>T n.826A>T c.594A>T (p.Thr198=) n.609A>T | |
11 | g.77156694A= | CA1984095238 | MYO7A | c.505A= (p.Lys169=) c.472A= (p.Lys158=) c.247A= (p.Lys83=) n.825A= n.827A= c.595A= (p.Lys199=) n.610A= | |
11 | g.77156694A>C | CA381931807 | MYO7A | c.505A>C (p.Lys169Gln) c.472A>C (p.Lys158Gln) c.247A>C (p.Lys83Gln) n.825A>C n.827A>C c.595A>C (p.Lys199Gln) n.610A>C | |
11 | g.77156694A>G | CA381931808 | MYO7A | c.505A>G (p.Lys169Glu) c.472A>G (p.Lys158Glu) c.247A>G (p.Lys83Glu) n.825A>G n.827A>G c.595A>G (p.Lys199Glu) n.610A>G | |
11 | g.77156694A>T | CA381931809 | MYO7A | c.505A>T (p.Lys169Ter) c.472A>T (p.Lys158Ter) c.247A>T (p.Lys83Ter) n.825A>T n.827A>T c.595A>T (p.Lys199Ter) n.610A>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156695A= | CA1984095242 | MYO7A | c.506A= (p.Lys169=) c.473A= (p.Lys158=) c.248A= (p.Lys83=) n.826A= n.828A= c.596A= (p.Lys199=) n.611A= | |
11 | g.77156695A>C | CA381931810 | MYO7A | c.506A>C (p.Lys169Thr) c.473A>C (p.Lys158Thr) c.248A>C (p.Lys83Thr) n.826A>C n.828A>C c.596A>C (p.Lys199Thr) n.611A>C | |
11 | g.77156695A>G | CA6197159 | MYO7A | c.506A>G (p.Lys169Arg) c.473A>G (p.Lys158Arg) c.248A>G (p.Lys83Arg) n.826A>G n.828A>G c.596A>G (p.Lys199Arg) n.611A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156695A>T | CA381931811 | MYO7A | c.506A>T (p.Lys169Met) c.473A>T (p.Lys158Met) c.248A>T (p.Lys83Met) n.826A>T n.828A>T c.596A>T (p.Lys199Met) n.611A>T | |
11 | g.77156696G>A | CA475886920 | MYO7A | c.507G>A (p.Lys169=) c.474G>A (p.Lys158=) c.249G>A (p.Lys83=) n.827G>A n.829G>A c.597G>A (p.Lys199=) n.612G>A | dbSNP gnomAD v4 |
11 | g.77156696G>C | CA381931813 | MYO7A | c.507G>C (p.Lys169Asn) c.474G>C (p.Lys158Asn) c.249G>C (p.Lys83Asn) n.827G>C n.829G>C c.597G>C (p.Lys199Asn) n.612G>C | |
11 | g.77156696G>T | CA381931812 | MYO7A | c.507G>T (p.Lys169Asn) c.474G>T (p.Lys158Asn) c.249G>T (p.Lys83Asn) n.827G>T n.829G>T c.597G>T (p.Lys199Asn) n.612G>T | |
11 | g.77156697C>A | CA381931814 | MYO7A | c.508C>A (p.Leu170Met) c.475C>A (p.Leu159Met) c.250C>A (p.Leu84Met) n.828C>A n.830C>A c.598C>A (p.Leu200Met) n.613C>A | |
11 | g.77156697C>G | CA381931815 | MYO7A | c.508C>G (p.Leu170Val) c.475C>G (p.Leu159Val) c.250C>G (p.Leu84Val) n.828C>G n.830C>G c.598C>G (p.Leu200Val) n.613C>G | |
11 | g.77156697C>T | CA475886921 | MYO7A | c.508C>T (p.Leu170=) c.475C>T (p.Leu159=) c.250C>T (p.Leu84=) n.828C>T n.830C>T c.598C>T (p.Leu200=) n.613C>T | gnomAD v4 |
11 | g.77156698T>A | CA381931816 | MYO7A | c.509T>A (p.Leu170Gln) c.476T>A (p.Leu159Gln) c.251T>A (p.Leu84Gln) n.829T>A n.831T>A c.599T>A (p.Leu200Gln) n.614T>A | |
11 | g.77156698T>C | CA381931817 | MYO7A | c.509T>C (p.Leu170Pro) c.476T>C (p.Leu159Pro) c.251T>C (p.Leu84Pro) n.829T>C n.831T>C c.599T>C (p.Leu200Pro) n.614T>C | |
11 | g.77156698T>G | CA381931818 | MYO7A | c.509T>G (p.Leu170Arg) c.476T>G (p.Leu159Arg) c.251T>G (p.Leu84Arg) n.829T>G n.831T>G c.599T>G (p.Leu200Arg) n.614T>G | |
11 | g.77156699G>A | CA132371 | MYO7A | c.510G>A (p.Leu170=) c.477G>A (p.Leu159=) c.252G>A (p.Leu84=) n.830G>A n.832G>A c.600G>A (p.Leu200=) n.615G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156699G>C | CA475886928 | MYO7A | c.510G>C (p.Leu170=) c.477G>C (p.Leu159=) c.252G>C (p.Leu84=) n.830G>C n.832G>C c.600G>C (p.Leu200=) n.615G>C | |
11 | g.77156699G= | CA1984095252 | MYO7A | c.510G= (p.Leu170=) c.477G= (p.Leu159=) c.252G= (p.Leu84=) n.830G= n.832G= c.600G= (p.Leu200=) n.615G= | |
11 | g.77156699G>T | CA475886929 | MYO7A | c.510G>T (p.Leu170=) c.477G>T (p.Leu159=) c.252G>T (p.Leu84=) n.830G>T n.832G>T c.600G>T (p.Leu200=) n.615G>T | |
11 | g.77156700A>C | CA381931821 | MYO7A | c.511A>C (p.Ile171Leu) c.478A>C (p.Ile160Leu) c.253A>C (p.Ile85Leu) n.831A>C n.833A>C c.601A>C (p.Ile201Leu) n.616A>C | gnomAD v4 |
11 | g.77156700A>G | CA381931819 | MYO7A | c.511A>G (p.Ile171Val) c.478A>G (p.Ile160Val) c.253A>G (p.Ile85Val) n.831A>G n.833A>G c.601A>G (p.Ile201Val) n.616A>G | |
11 | g.77156700A>T | CA381931820 | MYO7A | c.511A>T (p.Ile171Phe) c.478A>T (p.Ile160Phe) c.253A>T (p.Ile85Phe) n.831A>T n.833A>T c.601A>T (p.Ile201Phe) n.616A>T | |
11 | g.77156701T>A | CA381931822 | MYO7A | c.512T>A (p.Ile171Asn) c.479T>A (p.Ile160Asn) c.254T>A (p.Ile85Asn) n.832T>A n.834T>A c.602T>A (p.Ile201Asn) n.617T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77156701T>C | CA381931823 | MYO7A | c.512T>C (p.Ile171Thr) c.479T>C (p.Ile160Thr) c.254T>C (p.Ile85Thr) n.832T>C n.834T>C c.602T>C (p.Ile201Thr) n.617T>C | |
11 | g.77156701T>G | CA381931824 | MYO7A | c.512T>G (p.Ile171Ser) c.479T>G (p.Ile160Ser) c.254T>G (p.Ile85Ser) n.832T>G n.834T>G c.602T>G (p.Ile201Ser) n.617T>G | |
11 | g.77156701T= | CA1984095260 | MYO7A | c.512T= (p.Ile171=) c.479T= (p.Ile160=) c.254T= (p.Ile85=) n.832T= n.834T= c.602T= (p.Ile201=) n.617T= | |
11 | g.77156702C>A | CA6197160 | MYO7A | c.513C>A (p.Ile171=) c.480C>A (p.Ile160=) c.255C>A (p.Ile85=) n.833C>A n.835C>A c.603C>A (p.Ile201=) n.618C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156702C= | CA1984095267 | MYO7A | c.513C= (p.Ile171=) c.480C= (p.Ile160=) c.255C= (p.Ile85=) n.833C= n.835C= c.603C= (p.Ile201=) n.618C= | |
11 | g.77156702C>G | CA381931825 | MYO7A | c.513C>G (p.Ile171Met) c.480C>G (p.Ile160Met) c.255C>G (p.Ile85Met) n.833C>G n.835C>G c.603C>G (p.Ile201Met) n.618C>G | |
11 | g.77156702C>T | CA475886938 | MYO7A | c.513C>T (p.Ile171=) c.480C>T (p.Ile160=) c.255C>T (p.Ile85=) n.833C>T n.835C>T c.603C>T (p.Ile201=) n.618C>T | |
11 | g.77156703C>A | CA381931827 | MYO7A | c.514C>A (p.Leu172Met) c.481C>A (p.Leu161Met) c.256C>A (p.Leu86Met) n.834C>A n.836C>A c.604C>A (p.Leu202Met) n.619C>A | |
11 | g.77156703C= | CA1984095273 | MYO7A | c.514C= (p.Leu172=) c.481C= (p.Leu161=) c.256C= (p.Leu86=) n.834C= n.836C= c.604C= (p.Leu202=) n.619C= | |
11 | g.77156703C>G | CA381931826 | MYO7A | c.514C>G (p.Leu172Val) c.481C>G (p.Leu161Val) c.256C>G (p.Leu86Val) n.834C>G n.836C>G c.604C>G (p.Leu202Val) n.619C>G | |
11 | g.77156703C>T | CA185247 | MYO7A | c.514C>T (p.Leu172=) c.481C>T (p.Leu161=) c.256C>T (p.Leu86=) n.834C>T n.836C>T c.604C>T (p.Leu202=) n.619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156704T>A | CA381931828 | MYO7A | c.515T>A (p.Leu172Gln) c.482T>A (p.Leu161Gln) c.257T>A (p.Leu86Gln) n.835T>A n.837T>A c.605T>A (p.Leu202Gln) n.620T>A | |
11 | g.77156704T>C | CA381931829 | MYO7A | c.515T>C (p.Leu172Pro) c.482T>C (p.Leu161Pro) c.257T>C (p.Leu86Pro) n.835T>C n.837T>C c.605T>C (p.Leu202Pro) n.620T>C | |
11 | g.77156704T>G | CA381931830 | MYO7A | c.515T>G (p.Leu172Arg) c.482T>G (p.Leu161Arg) c.257T>G (p.Leu86Arg) n.835T>G n.837T>G c.605T>G (p.Leu202Arg) n.620T>G | |
11 | g.77156705G>A | CA475886948 | MYO7A | c.516G>A (p.Leu172=) c.483G>A (p.Leu161=) c.258G>A (p.Leu86=) n.836G>A n.838G>A c.606G>A (p.Leu202=) n.621G>A | ClinVar gnomAD v4 |
11 | g.77156705G>C | CA475886949 | MYO7A | c.516G>C (p.Leu172=) c.483G>C (p.Leu161=) c.258G>C (p.Leu86=) n.836G>C n.838G>C c.606G>C (p.Leu202=) n.621G>C | |
11 | g.77156705G>T | CA475886950 | MYO7A | c.516G>T (p.Leu172=) c.483G>T (p.Leu161=) c.258G>T (p.Leu86=) n.836G>T n.838G>T c.606G>T (p.Leu202=) n.621G>T | |
11 | g.77156706C>A | CA381931831 | MYO7A | c.517C>A (p.Gln173Lys) c.484C>A (p.Gln162Lys) c.259C>A (p.Gln87Lys) n.837C>A n.839C>A c.607C>A (p.Gln203Lys) n.622C>A | |
11 | g.77156706C= | CA1984095278 | MYO7A | c.517C= (p.Gln173=) c.484C= (p.Gln162=) c.259C= (p.Gln87=) n.837C= n.839C= c.607C= (p.Gln203=) n.622C= | |
11 | g.77156706C>G | CA381931832 | MYO7A | c.517C>G (p.Gln173Glu) c.484C>G (p.Gln162Glu) c.259C>G (p.Gln87Glu) n.837C>G n.839C>G c.607C>G (p.Gln203Glu) n.622C>G | |
11 | g.77156706C>T | CA6197161 | MYO7A | c.517C>T (p.Gln173Ter) c.484C>T (p.Gln162Ter) c.259C>T (p.Gln87Ter) n.837C>T n.839C>T c.607C>T (p.Gln203Ter) n.622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77156707A= | CA1984095290 | MYO7A | c.518A= (p.Gln173=) c.485A= (p.Gln162=) c.260A= (p.Gln87=) n.838A= n.840A= c.608A= (p.Gln203=) n.623A= | |
11 | g.77156707A>C | CA381931835 | MYO7A | c.518A>C (p.Gln173Pro) c.485A>C (p.Gln162Pro) c.260A>C (p.Gln87Pro) n.838A>C n.840A>C c.608A>C (p.Gln203Pro) n.623A>C | |
11 | g.77156707A>G | CA381931834 | MYO7A | c.518A>G (p.Gln173Arg) c.485A>G (p.Gln162Arg) c.260A>G (p.Gln87Arg) n.838A>G n.840A>G c.608A>G (p.Gln203Arg) n.623A>G | dbSNP gnomAD v4 |
11 | g.77156707A>T | CA381931833 | MYO7A | c.518A>T (p.Gln173Leu) c.485A>T (p.Gln162Leu) c.260A>T (p.Gln87Leu) n.838A>T n.840A>T c.608A>T (p.Gln203Leu) n.623A>T | gnomAD v4 |
11 | g.77156708G>A | CA6197162 | MYO7A | c.519G>A (p.Gln173=) c.486G>A (p.Gln162=) c.261G>A (p.Gln87=) n.839G>A n.841G>A c.609G>A (p.Gln203=) n.624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156708G>C | CA381931836 | MYO7A | c.519G>C (p.Gln173His) c.486G>C (p.Gln162His) c.261G>C (p.Gln87His) n.839G>C n.841G>C c.609G>C (p.Gln203His) n.624G>C | |
11 | g.77156708G= | CA1984095302 | MYO7A | c.519G= (p.Gln173=) c.486G= (p.Gln162=) c.261G= (p.Gln87=) n.839G= n.841G= c.609G= (p.Gln203=) n.624G= | |
11 | g.77156708G>T | CA381931837 | MYO7A | c.519G>T (p.Gln173His) c.486G>T (p.Gln162His) c.261G>T (p.Gln87His) n.839G>T n.841G>T c.609G>T (p.Gln203His) n.624G>T | |
11 | g.77156709T>A | CA381931838 | MYO7A | c.520T>A (p.Phe174Ile) c.487T>A (p.Phe163Ile) c.262T>A (p.Phe88Ile) n.840T>A n.842T>A c.610T>A (p.Phe204Ile) n.625T>A | |
11 | g.77156709T>C | CA381931839 | MYO7A | c.520T>C (p.Phe174Leu) c.487T>C (p.Phe163Leu) c.262T>C (p.Phe88Leu) n.840T>C n.842T>C c.610T>C (p.Phe204Leu) n.625T>C | |
11 | g.77156709T>G | CA381931840 | MYO7A | c.520T>G (p.Phe174Val) c.487T>G (p.Phe163Val) c.262T>G (p.Phe88Val) n.840T>G n.842T>G c.610T>G (p.Phe204Val) n.625T>G | |
11 | g.77156710T>A | CA381931841 | MYO7A | c.521T>A (p.Phe174Tyr) c.488T>A (p.Phe163Tyr) c.263T>A (p.Phe88Tyr) n.841T>A n.843T>A c.611T>A (p.Phe204Tyr) n.626T>A | |
11 | g.77156710T>C | CA381931843 | MYO7A | c.521T>C (p.Phe174Ser) c.488T>C (p.Phe163Ser) c.263T>C (p.Phe88Ser) n.841T>C n.843T>C c.611T>C (p.Phe204Ser) n.626T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77156710T>G | CA381931842 | MYO7A | c.521T>G (p.Phe174Cys) c.488T>G (p.Phe163Cys) c.263T>G (p.Phe88Cys) n.841T>G n.843T>G c.611T>G (p.Phe204Cys) n.626T>G | |
11 | g.77156710T= | CA1984095305 | MYO7A | c.521T= (p.Phe174=) c.488T= (p.Phe163=) c.263T= (p.Phe88=) n.841T= n.843T= c.611T= (p.Phe204=) n.626T= | |
11 | g.77156711C>A | CA381931844 | MYO7A | c.522C>A (p.Phe174Leu) c.489C>A (p.Phe163Leu) c.264C>A (p.Phe88Leu) n.842C>A n.844C>A c.612C>A (p.Phe204Leu) n.627C>A | COSMIC |
11 | g.77156711C>G | CA381931845 | MYO7A | c.522C>G (p.Phe174Leu) c.489C>G (p.Phe163Leu) c.264C>G (p.Phe88Leu) n.842C>G n.844C>G c.612C>G (p.Phe204Leu) n.627C>G | |
11 | g.77156711C>T | CA475886970 | MYO7A | c.522C>T (p.Phe174=) c.489C>T (p.Phe163=) c.264C>T (p.Phe88=) n.842C>T n.844C>T c.612C>T (p.Phe204=) n.627C>T | gnomAD v4 |
11 | g.77156712C>A | CA381931846 | MYO7A | c.523C>A (p.Leu175Met) c.490C>A (p.Leu164Met) c.265C>A (p.Leu89Met) n.843C>A n.845C>A c.613C>A (p.Leu205Met) n.628C>A | |
11 | g.77156712C>G | CA381931847 | MYO7A | c.523C>G (p.Leu175Val) c.490C>G (p.Leu164Val) c.265C>G (p.Leu89Val) n.843C>G n.845C>G c.613C>G (p.Leu205Val) n.628C>G | |
11 | g.77156712C>T | CA475886974 | MYO7A | c.523C>T (p.Leu175=) c.490C>T (p.Leu164=) c.265C>T (p.Leu89=) n.843C>T n.845C>T c.613C>T (p.Leu205=) n.628C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77156713T>A | CA381931848 | MYO7A | c.524T>A (p.Leu175Gln) c.491T>A (p.Leu164Gln) c.266T>A (p.Leu89Gln) n.844T>A n.846T>A c.614T>A (p.Leu205Gln) n.629T>A | |
11 | g.77156713T>C | CA381931849 | MYO7A | c.524T>C (p.Leu175Pro) c.491T>C (p.Leu164Pro) c.266T>C (p.Leu89Pro) n.844T>C n.846T>C c.614T>C (p.Leu205Pro) n.629T>C | |
11 | g.77156713T>G | CA381931850 | MYO7A | c.524T>G (p.Leu175Arg) c.491T>G (p.Leu164Arg) c.266T>G (p.Leu89Arg) n.844T>G n.846T>G c.614T>G (p.Leu205Arg) n.629T>G | |
11 | g.77156714G>A | CA6197163 | MYO7A | c.525G>A (p.Leu175=) c.492G>A (p.Leu164=) c.267G>A (p.Leu89=) n.845G>A n.847G>A c.615G>A (p.Leu205=) n.630G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156714G>C | CA475886981 | MYO7A | c.525G>C (p.Leu175=) c.492G>C (p.Leu164=) c.267G>C (p.Leu89=) n.845G>C n.847G>C c.615G>C (p.Leu205=) n.630G>C | |
11 | g.77156714G= | CA1984095310 | MYO7A | c.525G= (p.Leu175=) c.492G= (p.Leu164=) c.267G= (p.Leu89=) n.845G= n.847G= c.615G= (p.Leu205=) n.630G= | |
11 | g.77156714G>T | CA475886979 | MYO7A | c.525G>T (p.Leu175=) c.492G>T (p.Leu164=) c.267G>T (p.Leu89=) n.845G>T n.847G>T c.615G>T (p.Leu205=) n.630G>T | |
11 | g.77156715G>A | CA381931851 | MYO7A | c.526G>A (p.Ala176Thr) c.493G>A (p.Ala165Thr) c.268G>A (p.Ala90Thr) n.846G>A n.848G>A c.616G>A (p.Ala206Thr) n.631G>A | |
11 | g.77156715G>C | CA381931852 | MYO7A | c.526G>C (p.Ala176Pro) c.493G>C (p.Ala165Pro) c.268G>C (p.Ala90Pro) n.846G>C n.848G>C c.616G>C (p.Ala206Pro) n.631G>C | |
11 | g.77156715G>T | CA381931853 | MYO7A | c.526G>T (p.Ala176Ser) c.493G>T (p.Ala165Ser) c.268G>T (p.Ala90Ser) n.846G>T n.848G>T c.616G>T (p.Ala206Ser) n.631G>T | |
11 | g.77156716C>A | CA381931856 | MYO7A | c.527C>A (p.Ala176Glu) c.494C>A (p.Ala165Glu) c.269C>A (p.Ala90Glu) n.847C>A n.849C>A c.617C>A (p.Ala206Glu) n.632C>A | |
11 | g.77156716C>G | CA381931854 | MYO7A | c.527C>G (p.Ala176Gly) c.494C>G (p.Ala165Gly) c.269C>G (p.Ala90Gly) n.847C>G n.849C>G c.617C>G (p.Ala206Gly) n.632C>G | |
11 | g.77156716C>T | CA381931855 | MYO7A | c.527C>T (p.Ala176Val) c.494C>T (p.Ala165Val) c.269C>T (p.Ala90Val) n.847C>T n.849C>T c.617C>T (p.Ala206Val) n.632C>T | |
11 | g.77156717A>C | CA475886989 | MYO7A | c.528A>C (p.Ala176=) c.495A>C (p.Ala165=) c.270A>C (p.Ala90=) n.848A>C n.850A>C c.618A>C (p.Ala206=) n.633A>C | |
11 | g.77156717A>G | CA475886990 | MYO7A | c.528A>G (p.Ala176=) c.495A>G (p.Ala165=) c.270A>G (p.Ala90=) n.848A>G n.850A>G c.618A>G (p.Ala206=) n.633A>G | |
11 | g.77156717A>T | CA475886991 | MYO7A | c.528A>T (p.Ala176=) c.495A>T (p.Ala165=) c.270A>T (p.Ala90=) n.848A>T n.850A>T c.618A>T (p.Ala206=) n.633A>T | |
11 | g.77156718G>A | CA381931857 | MYO7A | c.529G>A (p.Ala177Thr) c.496G>A (p.Ala166Thr) c.271G>A (p.Ala91Thr) n.849G>A n.851G>A c.619G>A (p.Ala207Thr) n.634G>A | gnomAD v4 |
11 | g.77156718G>C | CA381931858 | MYO7A | c.529G>C (p.Ala177Pro) c.496G>C (p.Ala166Pro) c.271G>C (p.Ala91Pro) n.849G>C n.851G>C c.619G>C (p.Ala207Pro) n.634G>C | |
11 | g.77156718G>T | CA381931859 | MYO7A | c.529G>T (p.Ala177Ser) c.496G>T (p.Ala166Ser) c.271G>T (p.Ala91Ser) n.849G>T n.851G>T c.619G>T (p.Ala207Ser) n.634G>T | |
11 | g.77156719C>A | CA381931860 | MYO7A | c.530C>A (p.Ala177Asp) c.497C>A (p.Ala166Asp) c.272C>A (p.Ala91Asp) n.850C>A n.852C>A c.620C>A (p.Ala207Asp) n.635C>A | |
11 | g.77156719C= | CA1984095314 | MYO7A | c.530C= (p.Ala177=) c.497C= (p.Ala166=) c.272C= (p.Ala91=) n.850C= n.852C= c.620C= (p.Ala207=) n.635C= | |
11 | g.77156719C>G | CA381931861 | MYO7A | c.530C>G (p.Ala177Gly) c.497C>G (p.Ala166Gly) c.272C>G (p.Ala91Gly) n.850C>G n.852C>G c.620C>G (p.Ala207Gly) n.635C>G | dbSNP gnomAD v4 |
11 | g.77156719C>T | CA381931862 | MYO7A | c.530C>T (p.Ala177Val) c.497C>T (p.Ala166Val) c.272C>T (p.Ala91Val) n.850C>T n.852C>T c.620C>T (p.Ala207Val) n.635C>T | |
11 | g.77156720dup | CA2838591867 | MYO7A | c.531dup (p.Ile178HisfsTer9) c.498dup (p.Ile167HisfsTer9) c.273dup (p.Ile92HisfsTer9) n.851dup n.853dup c.621dup (p.Ile208HisfsTer9) n.636dup | |
11 | g.77156720C>A | CA475886997 | MYO7A | c.531C>A (p.Ala177=) c.498C>A (p.Ala166=) c.273C>A (p.Ala91=) n.851C>A n.853C>A c.621C>A (p.Ala207=) n.636C>A | |
11 | g.77156720C= | CA1984095319 | MYO7A | c.531C= (p.Ala177=) c.498C= (p.Ala166=) c.273C= (p.Ala91=) n.851C= n.853C= c.621C= (p.Ala207=) n.636C= | |
11 | g.77156720C>G | CA475886998 | MYO7A | c.531C>G (p.Ala177=) c.498C>G (p.Ala166=) c.273C>G (p.Ala91=) n.851C>G n.853C>G c.621C>G (p.Ala207=) n.636C>G | |
11 | g.77156720C>T | CA475887000 | MYO7A | c.531C>T (p.Ala177=) c.498C>T (p.Ala166=) c.273C>T (p.Ala91=) n.851C>T n.853C>T c.621C>T (p.Ala207=) n.636C>T | dbSNP |
11 | g.77156721A>C | CA381931863 | MYO7A | c.532A>C (p.Ile178Leu) c.499A>C (p.Ile167Leu) c.274A>C (p.Ile92Leu) n.852A>C n.854A>C c.622A>C (p.Ile208Leu) n.637A>C | |
11 | g.77156721A>G | CA381931864 | MYO7A | c.532A>G (p.Ile178Val) c.499A>G (p.Ile167Val) c.274A>G (p.Ile92Val) n.852A>G n.854A>G c.622A>G (p.Ile208Val) n.637A>G | |
11 | g.77156721A>T | CA381931865 | MYO7A | c.532A>T (p.Ile178Phe) c.499A>T (p.Ile167Phe) c.274A>T (p.Ile92Phe) n.852A>T n.854A>T c.622A>T (p.Ile208Phe) n.637A>T | |
11 | g.77156722T>A | CA381931866 | MYO7A | c.533T>A (p.Ile178Asn) c.500T>A (p.Ile167Asn) c.275T>A (p.Ile92Asn) n.853T>A n.855T>A c.623T>A (p.Ile208Asn) n.638T>A | |
11 | g.77156722T>C | CA381931867 | MYO7A | c.533T>C (p.Ile178Thr) c.500T>C (p.Ile167Thr) c.275T>C (p.Ile92Thr) n.853T>C n.855T>C c.623T>C (p.Ile208Thr) n.638T>C | |
11 | g.77156722T>G | CA381931868 | MYO7A | c.533T>G (p.Ile178Ser) c.500T>G (p.Ile167Ser) c.275T>G (p.Ile92Ser) n.853T>G n.855T>G c.623T>G (p.Ile208Ser) n.638T>G | |
11 | g.77156723C>A | CA475887009 | MYO7A | c.534C>A (p.Ile178=) c.501C>A (p.Ile167=) c.276C>A (p.Ile92=) n.854C>A n.856C>A c.624C>A (p.Ile208=) n.639C>A | dbSNP |
11 | g.77156723C= | CA1984095328 | MYO7A | c.534C= (p.Ile178=) c.501C= (p.Ile167=) c.276C= (p.Ile92=) n.854C= n.856C= c.624C= (p.Ile208=) n.639C= | |
11 | g.77156723C>G | CA381931869 | MYO7A | c.534C>G (p.Ile178Met) c.501C>G (p.Ile167Met) c.276C>G (p.Ile92Met) n.854C>G n.856C>G c.624C>G (p.Ile208Met) n.639C>G | |
11 | g.77156723C>T | CA475887011 | MYO7A | c.534C>T (p.Ile178=) c.501C>T (p.Ile167=) c.276C>T (p.Ile92=) n.854C>T n.856C>T c.624C>T (p.Ile208=) n.639C>T | ClinVar |
11 | g.77156724A>C | CA381931872 | MYO7A | c.535A>C (p.Ser179Arg) c.502A>C (p.Ser168Arg) c.277A>C (p.Ser93Arg) n.855A>C n.857A>C c.625A>C (p.Ser209Arg) n.640A>C | |
11 | g.77156724A>G | CA381931871 | MYO7A | c.535A>G (p.Ser179Gly) c.502A>G (p.Ser168Gly) c.277A>G (p.Ser93Gly) n.855A>G n.857A>G c.625A>G (p.Ser209Gly) n.640A>G | |
11 | g.77156724A>T | CA381931870 | MYO7A | c.535A>T (p.Ser179Cys) c.502A>T (p.Ser168Cys) c.277A>T (p.Ser93Cys) n.855A>T n.857A>T c.625A>T (p.Ser209Cys) n.640A>T | |
11 | g.77156724_77156725del | CA2695215130 | MYO7A | c.535_536del (p.Ser179TrpfsTer7) c.502_503del (p.Ser168TrpfsTer7) c.277_278del (p.Ser93TrpfsTer7) n.855_856del n.857_858del c.625_626del (p.Ser209TrpfsTer7) n.640_641del | ClinVar |
11 | g.77156725G>A | CA381931873 | MYO7A | c.536G>A (p.Ser179Asn) c.503G>A (p.Ser168Asn) c.278G>A (p.Ser93Asn) n.856G>A n.858G>A c.626G>A (p.Ser209Asn) n.641G>A | |
11 | g.77156725G>C | CA381931874 | MYO7A | c.536G>C (p.Ser179Thr) c.503G>C (p.Ser168Thr) c.278G>C (p.Ser93Thr) n.856G>C n.858G>C c.626G>C (p.Ser209Thr) n.641G>C | COSMIC |
11 | g.77156725G>T | CA381931875 | MYO7A | c.536G>T (p.Ser179Ile) c.503G>T (p.Ser168Ile) c.278G>T (p.Ser93Ile) n.856G>T n.858G>T c.626G>T (p.Ser209Ile) n.641G>T | |
11 | g.77156726T>A | CA381931876 | MYO7A | c.537T>A (p.Ser179Arg) c.504T>A (p.Ser168Arg) c.279T>A (p.Ser93Arg) n.857T>A n.859T>A c.627T>A (p.Ser209Arg) n.642T>A | |
11 | g.77156726T>C | CA475887022 | MYO7A | c.537T>C (p.Ser179=) c.504T>C (p.Ser168=) c.279T>C (p.Ser93=) n.857T>C n.859T>C c.627T>C (p.Ser209=) n.642T>C | dbSNP gnomAD v2 |
11 | g.77156726T>G | CA381931877 | MYO7A | c.537T>G (p.Ser179Arg) c.504T>G (p.Ser168Arg) c.279T>G (p.Ser93Arg) n.857T>G n.859T>G c.627T>G (p.Ser209Arg) n.642T>G | |
11 | g.77156726T= | CA1984095334 | MYO7A | c.537T= (p.Ser179=) c.504T= (p.Ser168=) c.279T= (p.Ser93=) n.857T= n.859T= c.627T= (p.Ser209=) n.642T= | |
11 | g.77156727G>A | CA381931878 | MYO7A | c.538G>A (p.Gly180Arg) c.505G>A (p.Gly169Arg) c.280G>A (p.Gly94Arg) n.858G>A n.860G>A c.628G>A (p.Gly210Arg) n.643G>A | |
11 | g.77156727G>C | CA381931879 | MYO7A | c.538G>C (p.Gly180Arg) c.505G>C (p.Gly169Arg) c.280G>C (p.Gly94Arg) n.858G>C n.860G>C c.628G>C (p.Gly210Arg) n.643G>C | |
11 | g.77156727G>T | CA381931880 | MYO7A | c.538G>T (p.Gly180Trp) c.505G>T (p.Gly169Trp) c.280G>T (p.Gly94Trp) n.858G>T n.860G>T c.628G>T (p.Gly210Trp) n.643G>T | |
11 | g.77156728G>A | CA381931881 | MYO7A | c.539G>A (p.Gly180Glu) c.506G>A (p.Gly169Glu) c.281G>A (p.Gly94Glu) n.859G>A n.861G>A c.629G>A (p.Gly210Glu) n.644G>A | |
11 | g.77156728G>C | CA6197164 | MYO7A | c.539G>C (p.Gly180Ala) c.506G>C (p.Gly169Ala) c.281G>C (p.Gly94Ala) n.859G>C n.861G>C c.629G>C (p.Gly210Ala) n.644G>C | dbSNP ExAC gnomAD v2 |
11 | g.77156728G= | CA1984095343 | MYO7A | c.539G= (p.Gly180=) c.506G= (p.Gly169=) c.281G= (p.Gly94=) n.859G= n.861G= c.629G= (p.Gly210=) n.644G= | |
11 | g.77156728G>T | CA381931882 | MYO7A | c.539G>T (p.Gly180Val) c.506G>T (p.Gly169Val) c.281G>T (p.Gly94Val) n.859G>T n.861G>T c.629G>T (p.Gly210Val) n.644G>T | |
11 | g.77156729G>A | CA475887032 | MYO7A | c.540G>A (p.Gly180=) c.507G>A (p.Gly169=) c.282G>A (p.Gly94=) n.860G>A n.862G>A c.630G>A (p.Gly210=) n.645G>A | |
11 | g.77156729G>C | CA475887033 | MYO7A | c.540G>C (p.Gly180=) c.507G>C (p.Gly169=) c.282G>C (p.Gly94=) n.860G>C n.862G>C c.630G>C (p.Gly210=) n.645G>C | |
11 | g.77156729G>T | CA475887035 | MYO7A | c.540G>T (p.Gly180=) c.507G>T (p.Gly169=) c.282G>T (p.Gly94=) n.860G>T n.862G>T c.630G>T (p.Gly210=) n.645G>T | |
11 | g.77156730C>A | CA381931883 | MYO7A | c.541C>A (p.Gln181Lys) c.508C>A (p.Gln170Lys) c.283C>A (p.Gln95Lys) n.861C>A n.863C>A c.631C>A (p.Gln211Lys) n.646C>A | |
11 | g.77156730C= | CA1984095345 | MYO7A | c.541C= (p.Gln181=) c.508C= (p.Gln170=) c.283C= (p.Gln95=) n.861C= n.863C= c.631C= (p.Gln211=) n.646C= | |
11 | g.77156730C>G | CA381931884 | MYO7A | c.541C>G (p.Gln181Glu) c.508C>G (p.Gln170Glu) c.283C>G (p.Gln95Glu) n.861C>G n.863C>G c.631C>G (p.Gln211Glu) n.646C>G | |
11 | g.77156730C>T | CA381931885 | MYO7A | c.541C>T (p.Gln181Ter) c.508C>T (p.Gln170Ter) c.283C>T (p.Gln95Ter) n.861C>T n.863C>T c.631C>T (p.Gln211Ter) n.646C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.77156731A>C | CA381931887 | MYO7A | c.542A>C (p.Gln181Pro) c.509A>C (p.Gln170Pro) c.284A>C (p.Gln95Pro) n.862A>C n.864A>C c.632A>C (p.Gln211Pro) n.647A>C | |
11 | g.77156731A>G | CA381931888 | MYO7A | c.542A>G (p.Gln181Arg) c.509A>G (p.Gln170Arg) c.284A>G (p.Gln95Arg) n.862A>G n.864A>G c.632A>G (p.Gln211Arg) n.647A>G | |
11 | g.77156731A>T | CA381931886 | MYO7A | c.542A>T (p.Gln181Leu) c.509A>T (p.Gln170Leu) c.284A>T (p.Gln95Leu) n.862A>T n.864A>T c.632A>T (p.Gln211Leu) n.647A>T | |
11 | g.77156732G>A | CA475887043 | MYO7A | c.543G>A (p.Gln181=) c.510G>A (p.Gln170=) c.285G>A (p.Gln95=) n.863G>A n.865G>A c.633G>A (p.Gln211=) n.648G>A | |
11 | g.77156732G>C | CA381931889 | MYO7A | c.543G>C (p.Gln181His) c.510G>C (p.Gln170His) c.285G>C (p.Gln95His) n.863G>C n.865G>C c.633G>C (p.Gln211His) n.648G>C | |
11 | g.77156732G>T | CA381931890 | MYO7A | c.543G>T (p.Gln181His) c.510G>T (p.Gln170His) c.285G>T (p.Gln95His) n.863G>T n.865G>T c.633G>T (p.Gln211His) n.648G>T | |
11 | g.77156733C>A | CA381931891 | MYO7A | c.544C>A (p.His182Asn) c.511C>A (p.His171Asn) c.286C>A (p.His96Asn) n.864C>A n.866C>A c.634C>A (p.His212Asn) n.649C>A | |
11 | g.77156733C>G | CA381931892 | MYO7A | c.544C>G (p.His182Asp) c.511C>G (p.His171Asp) c.286C>G (p.His96Asp) n.864C>G n.866C>G c.634C>G (p.His212Asp) n.649C>G | |
11 | g.77156733C>T | CA381931893 | MYO7A | c.544C>T (p.His182Tyr) c.511C>T (p.His171Tyr) c.286C>T (p.His96Tyr) n.864C>T n.866C>T c.634C>T (p.His212Tyr) n.649C>T | gnomAD v4 |
11 | g.77156734A= | CA1984095354 | MYO7A | c.545A= (p.His182=) c.512A= (p.His171=) c.287A= (p.His96=) n.865A= n.867A= c.635A= (p.His212=) n.650A= | |
11 | g.77156734A>C | CA381931894 | MYO7A | c.545A>C (p.His182Pro) c.512A>C (p.His171Pro) c.287A>C (p.His96Pro) n.865A>C n.867A>C c.635A>C (p.His212Pro) n.650A>C | dbSNP |
11 | g.77156734A>G | CA381931895 | MYO7A | c.545A>G (p.His182Arg) c.512A>G (p.His171Arg) c.287A>G (p.His96Arg) n.865A>G n.867A>G c.635A>G (p.His212Arg) n.650A>G | dbSNP gnomAD v4 |
11 | g.77156734A>T | CA381931896 | MYO7A | c.545A>T (p.His182Leu) c.512A>T (p.His171Leu) c.287A>T (p.His96Leu) n.865A>T n.867A>T c.635A>T (p.His212Leu) n.650A>T | |
11 | g.77156735C>A | CA381931897 | MYO7A | c.546C>A (p.His182Gln) c.513C>A (p.His171Gln) c.288C>A (p.His96Gln) n.866C>A n.868C>A c.636C>A (p.His212Gln) n.651C>A | |
11 | g.77156735C>G | CA381931898 | MYO7A | c.546C>G (p.His182Gln) c.513C>G (p.His171Gln) c.288C>G (p.His96Gln) n.866C>G n.868C>G c.636C>G (p.His212Gln) n.651C>G | |
11 | g.77156735C>T | CA475887046 | MYO7A | c.546C>T (p.His182=) c.513C>T (p.His171=) c.288C>T (p.His96=) n.866C>T n.868C>T c.636C>T (p.His212=) n.651C>T | |
11 | g.77156736T>A | CA381931899 | MYO7A | c.547T>A (p.Ser183Thr) c.514T>A (p.Ser172Thr) c.289T>A (p.Ser97Thr) n.867T>A n.869T>A c.637T>A (p.Ser213Thr) n.652T>A | |
11 | g.77156736T>C | CA381931900 | MYO7A | c.547T>C (p.Ser183Pro) c.514T>C (p.Ser172Pro) c.289T>C (p.Ser97Pro) n.867T>C n.869T>C c.637T>C (p.Ser213Pro) n.652T>C | |
11 | g.77156736T>G | CA381931901 | MYO7A | c.547T>G (p.Ser183Ala) c.514T>G (p.Ser172Ala) c.289T>G (p.Ser97Ala) n.867T>G n.869T>G c.637T>G (p.Ser213Ala) n.652T>G | |
11 | g.77156737C>A | CA381931903 | MYO7A | c.548C>A (p.Ser183Ter) c.515C>A (p.Ser172Ter) c.290C>A (p.Ser97Ter) n.868C>A n.870C>A c.638C>A (p.Ser213Ter) n.653C>A | ClinVar |
11 | g.77156737C= | CA1984095359 | MYO7A | c.548C= (p.Ser183=) c.515C= (p.Ser172=) c.290C= (p.Ser97=) n.868C= n.870C= c.638C= (p.Ser213=) n.653C= | |
11 | g.77156737C>G | CA381931902 | MYO7A | c.548C>G (p.Ser183Trp) c.515C>G (p.Ser172Trp) c.290C>G (p.Ser97Trp) n.868C>G n.870C>G c.638C>G (p.Ser213Trp) n.653C>G | gnomAD v4 |
11 | g.77156737C>T | CA6197165 | MYO7A | c.548C>T (p.Ser183Leu) c.515C>T (p.Ser172Leu) c.290C>T (p.Ser97Leu) n.868C>T n.870C>T c.638C>T (p.Ser213Leu) n.653C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156738G>A | CA6197167 | MYO7A | c.549G>A (p.Ser183=) c.516G>A (p.Ser172=) c.291G>A (p.Ser97=) n.869G>A n.871G>A c.639G>A (p.Ser213=) n.654G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156738G>C | CA6197166 | MYO7A | c.549G>C (p.Ser183=) c.516G>C (p.Ser172=) c.291G>C (p.Ser97=) n.869G>C n.871G>C c.639G>C (p.Ser213=) n.654G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156738G= | CA1984095366 | MYO7A | c.549G= (p.Ser183=) c.516G= (p.Ser172=) c.291G= (p.Ser97=) n.869G= n.871G= c.639G= (p.Ser213=) n.654G= | |
11 | g.77156738G>T | CA475887051 | MYO7A | c.549G>T (p.Ser183=) c.516G>T (p.Ser172=) c.291G>T (p.Ser97=) n.869G>T n.871G>T c.639G>T (p.Ser213=) n.654G>T | gnomAD v4 |
11 | g.77156739T>A | CA381931904 | MYO7A | c.550T>A (p.Trp184Arg) c.517T>A (p.Trp173Arg) c.292T>A (p.Trp98Arg) n.870T>A n.872T>A c.640T>A (p.Trp214Arg) n.655T>A | |
11 | g.77156739T>C | CA381931905 | MYO7A | c.550T>C (p.Trp184Arg) c.517T>C (p.Trp173Arg) c.292T>C (p.Trp98Arg) n.870T>C n.872T>C c.640T>C (p.Trp214Arg) n.655T>C | gnomAD v4 |
11 | g.77156739T>G | CA381931906 | MYO7A | c.550T>G (p.Trp184Gly) c.517T>G (p.Trp173Gly) c.292T>G (p.Trp98Gly) n.870T>G n.872T>G c.640T>G (p.Trp214Gly) n.655T>G | |
11 | g.77156740G>A | CA381931907 | MYO7A | c.551G>A (p.Trp184Ter) c.518G>A (p.Trp173Ter) c.293G>A (p.Trp98Ter) n.871G>A n.873G>A c.641G>A (p.Trp214Ter) n.656G>A | ClinVar |
11 | g.77156740G>C | CA381931908 | MYO7A | c.551G>C (p.Trp184Ser) c.518G>C (p.Trp173Ser) c.293G>C (p.Trp98Ser) n.871G>C n.873G>C c.641G>C (p.Trp214Ser) n.656G>C | |
11 | g.77156740G>T | CA381931909 | MYO7A | c.551G>T (p.Trp184Leu) c.518G>T (p.Trp173Leu) c.293G>T (p.Trp98Leu) n.871G>T n.873G>T c.641G>T (p.Trp214Leu) n.656G>T | |
11 | g.77156741G>A | CA381931910 | MYO7A | c.552G>A (p.Trp184Ter) c.519G>A (p.Trp173Ter) c.294G>A (p.Trp98Ter) n.872G>A n.874G>A c.642G>A (p.Trp214Ter) n.657G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.77156741G>C | CA381931911 | MYO7A | c.552G>C (p.Trp184Cys) c.519G>C (p.Trp173Cys) c.294G>C (p.Trp98Cys) n.872G>C n.874G>C c.642G>C (p.Trp214Cys) n.657G>C | |
11 | g.77156741G= | CA1984095377 | MYO7A | c.552G= (p.Trp184=) c.519G= (p.Trp173=) c.294G= (p.Trp98=) n.872G= n.874G= c.642G= (p.Trp214=) n.657G= | |
11 | g.77156741G>T | CA381931912 | MYO7A | c.552G>T (p.Trp184Cys) c.519G>T (p.Trp173Cys) c.294G>T (p.Trp98Cys) n.872G>T n.874G>T c.642G>T (p.Trp214Cys) n.657G>T | |
11 | g.77156742A= | CA1984095383 | MYO7A | c.553A= (p.Ile185=) c.520A= (p.Ile174=) c.295A= (p.Ile99=) n.873A= n.875A= c.643A= (p.Ile215=) n.658A= | |
11 | g.77156742A>C | CA381931914 | MYO7A | c.553A>C (p.Ile185Leu) c.520A>C (p.Ile174Leu) c.295A>C (p.Ile99Leu) n.873A>C n.875A>C c.643A>C (p.Ile215Leu) n.658A>C | |
11 | g.77156742A>G | CA6197168 | MYO7A | c.553A>G (p.Ile185Val) c.520A>G (p.Ile174Val) c.295A>G (p.Ile99Val) n.873A>G n.875A>G c.643A>G (p.Ile215Val) n.658A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156742A>T | CA381931913 | MYO7A | c.553A>T (p.Ile185Phe) c.520A>T (p.Ile174Phe) c.295A>T (p.Ile99Phe) n.873A>T n.875A>T c.643A>T (p.Ile215Phe) n.658A>T | |
11 | g.77156743T>A | CA381931915 | MYO7A | c.554T>A (p.Ile185Asn) c.521T>A (p.Ile174Asn) c.296T>A (p.Ile99Asn) n.874T>A n.876T>A c.644T>A (p.Ile215Asn) n.659T>A | |
11 | g.77156743T>C | CA381931916 | MYO7A | c.554T>C (p.Ile185Thr) c.521T>C (p.Ile174Thr) c.296T>C (p.Ile99Thr) n.874T>C n.876T>C c.644T>C (p.Ile215Thr) n.659T>C | |
11 | g.77156743T>G | CA381931917 | MYO7A | c.554T>G (p.Ile185Ser) c.521T>G (p.Ile174Ser) c.296T>G (p.Ile99Ser) n.874T>G n.876T>G c.644T>G (p.Ile215Ser) n.659T>G | |
11 | g.77156744T>A | CA475887058 | MYO7A | c.555T>A (p.Ile185=) c.522T>A (p.Ile174=) c.297T>A (p.Ile99=) n.875T>A n.877T>A c.645T>A (p.Ile215=) n.660T>A | |
11 | g.77156744T>C | CA475887059 | MYO7A | c.555T>C (p.Ile185=) c.522T>C (p.Ile174=) c.297T>C (p.Ile99=) n.875T>C n.877T>C c.645T>C (p.Ile215=) n.660T>C | |
11 | g.77156744T>G | CA381931918 | MYO7A | c.555T>G (p.Ile185Met) c.522T>G (p.Ile174Met) c.297T>G (p.Ile99Met) n.875T>G n.877T>G c.645T>G (p.Ile215Met) n.660T>G | |
11 | g.77156745G>A | CA381931919 | MYO7A | c.556G>A (p.Glu186Lys) c.523G>A (p.Glu175Lys) c.298G>A (p.Glu100Lys) n.876G>A n.878G>A c.646G>A (p.Glu216Lys) n.661G>A | gnomAD v4 |
11 | g.77156745G>C | CA381931920 | MYO7A | c.556G>C (p.Glu186Gln) c.523G>C (p.Glu175Gln) c.298G>C (p.Glu100Gln) n.876G>C n.878G>C c.646G>C (p.Glu216Gln) n.661G>C | gnomAD v4 |
11 | g.77156745G>T | CA381931921 | MYO7A | c.556G>T (p.Glu186Ter) c.523G>T (p.Glu175Ter) c.298G>T (p.Glu100Ter) n.876G>T n.878G>T c.646G>T (p.Glu216Ter) n.661G>T | |
11 | g.77156746A>C | CA381931924 | MYO7A | c.557A>C (p.Glu186Ala) c.524A>C (p.Glu175Ala) c.299A>C (p.Glu100Ala) n.877A>C n.879A>C c.647A>C (p.Glu216Ala) n.662A>C | |
11 | g.77156746A>G | CA381931922 | MYO7A | c.557A>G (p.Glu186Gly) c.524A>G (p.Glu175Gly) c.299A>G (p.Glu100Gly) n.877A>G n.879A>G c.647A>G (p.Glu216Gly) n.662A>G | |
11 | g.77156746A>T | CA381931923 | MYO7A | c.557A>T (p.Glu186Val) c.524A>T (p.Glu175Val) c.299A>T (p.Glu100Val) n.877A>T n.879A>T c.647A>T (p.Glu216Val) n.662A>T | |
11 | g.77156747G>A | CA475887062 | MYO7A | c.558G>A (p.Glu186=) c.525G>A (p.Glu175=) c.300G>A (p.Glu100=) n.878G>A n.880G>A c.648G>A (p.Glu216=) n.663G>A | |
11 | g.77156747G>C | CA381931925 | MYO7A | c.558G>C (p.Glu186Asp) c.525G>C (p.Glu175Asp) c.300G>C (p.Glu100Asp) n.878G>C n.880G>C c.648G>C (p.Glu216Asp) n.663G>C | |
11 | g.77156747G>T | CA381931926 | MYO7A | c.558G>T (p.Glu186Asp) c.525G>T (p.Glu175Asp) c.300G>T (p.Glu100Asp) n.878G>T n.880G>T c.648G>T (p.Glu216Asp) n.663G>T | |
11 | g.77156748C>A | CA381931927 | MYO7A | c.559C>A (p.Gln187Lys) c.526C>A (p.Gln176Lys) c.301C>A (p.Gln101Lys) n.879C>A n.881C>A c.649C>A (p.Gln217Lys) n.664C>A | |
11 | g.77156748C>G | CA381931928 | MYO7A | c.559C>G (p.Gln187Glu) c.526C>G (p.Gln176Glu) c.301C>G (p.Gln101Glu) n.879C>G n.881C>G c.649C>G (p.Gln217Glu) n.664C>G | |
11 | g.77156748C>T | CA381931929 | MYO7A | c.559C>T (p.Gln187Ter) c.526C>T (p.Gln176Ter) c.301C>T (p.Gln101Ter) n.879C>T n.881C>T c.649C>T (p.Gln217Ter) n.664C>T | |
11 | g.77156749A= | CA1984095388 | MYO7A | c.560A= (p.Gln187=) c.527A= (p.Gln176=) c.302A= (p.Gln101=) n.880A= n.882A= c.650A= (p.Gln217=) n.665A= | |
11 | g.77156749A>C | CA381931931 | MYO7A | c.560A>C (p.Gln187Pro) c.527A>C (p.Gln176Pro) c.302A>C (p.Gln101Pro) n.880A>C n.882A>C c.650A>C (p.Gln217Pro) n.665A>C | |
11 | g.77156749A>G | CA6197169 | MYO7A | c.560A>G (p.Gln187Arg) c.527A>G (p.Gln176Arg) c.302A>G (p.Gln101Arg) n.880A>G n.882A>G c.650A>G (p.Gln217Arg) n.665A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77156749A>T | CA381931930 | MYO7A | c.560A>T (p.Gln187Leu) c.527A>T (p.Gln176Leu) c.302A>T (p.Gln101Leu) n.880A>T n.882A>T c.650A>T (p.Gln217Leu) n.665A>T | |
11 | g.77156750G>A | CA475887071 | MYO7A | c.561G>A (p.Gln187=) c.528G>A (p.Gln176=) c.303G>A (p.Gln101=) n.881G>A n.883G>A c.651G>A (p.Gln217=) n.666G>A | |
11 | g.77156750G>C | CA381931932 | MYO7A | c.561G>C (p.Gln187His) c.528G>C (p.Gln176His) c.303G>C (p.Gln101His) n.881G>C n.883G>C c.651G>C (p.Gln217His) n.666G>C | |
11 | g.77156750G>T | CA381931933 | MYO7A | c.561G>T (p.Gln187His) c.528G>T (p.Gln176His) c.303G>T (p.Gln101His) n.881G>T n.883G>T c.651G>T (p.Gln217His) n.666G>T | |
11 | g.77156751C>A | CA381931934 | MYO7A | c.562C>A (p.Gln188Lys) c.529C>A (p.Gln177Lys) c.304C>A (p.Gln102Lys) n.882C>A n.884C>A c.652C>A (p.Gln218Lys) n.667C>A | |
11 | g.77156751C= | CA1984095397 | MYO7A | c.562C= (p.Gln188=) c.529C= (p.Gln177=) c.304C= (p.Gln102=) n.882C= n.884C= c.652C= (p.Gln218=) n.667C= | |
11 | g.77156751C>G | CA6197170 | MYO7A | c.562C>G (p.Gln188Glu) c.529C>G (p.Gln177Glu) c.304C>G (p.Gln102Glu) n.882C>G n.884C>G c.652C>G (p.Gln218Glu) n.667C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156751C>T | CA381931935 | MYO7A | c.562C>T (p.Gln188Ter) c.529C>T (p.Gln177Ter) c.304C>T (p.Gln102Ter) n.882C>T n.884C>T c.652C>T (p.Gln218Ter) n.667C>T | |
11 | g.77156752A>C | CA381931936 | MYO7A | c.563A>C (p.Gln188Pro) c.530A>C (p.Gln177Pro) c.305A>C (p.Gln102Pro) n.883A>C n.885A>C c.653A>C (p.Gln218Pro) n.668A>C | |
11 | g.77156752A>G | CA381931937 | MYO7A | c.563A>G (p.Gln188Arg) c.530A>G (p.Gln177Arg) c.305A>G (p.Gln102Arg) n.883A>G n.885A>G c.653A>G (p.Gln218Arg) n.668A>G | |
11 | g.77156752A>T | CA381931938 | MYO7A | c.563A>T (p.Gln188Leu) c.530A>T (p.Gln177Leu) c.305A>T (p.Gln102Leu) n.883A>T n.885A>T c.653A>T (p.Gln218Leu) n.668A>T | |
11 | g.77156753G>A | CA475887074 | MYO7A | c.564G>A (p.Gln188=) c.531G>A (p.Gln177=) c.306G>A (p.Gln102=) n.884G>A n.886G>A c.654G>A (p.Gln218=) n.669G>A | ClinVar dbSNP |
11 | g.77156753G>C | CA381931939 | MYO7A | c.564G>C (p.Gln188His) c.531G>C (p.Gln177His) c.306G>C (p.Gln102His) n.884G>C n.886G>C c.654G>C (p.Gln218His) n.669G>C | |
11 | g.77156753G>T | CA381931940 | MYO7A | c.564G>T (p.Gln188His) c.531G>T (p.Gln177His) c.306G>T (p.Gln102His) n.884G>T n.886G>T c.654G>T (p.Gln218His) n.669G>T | |
11 | g.77156753_77156755delinsGGT | CA1984095404 | MYO7A | c.564_566delinsGGT (p.Gln188=) c.531_533delinsGGT (p.Gln177=) c.306_308delinsGGT (p.Gln102=) n.884_886delinsGGT n.886_888delinsGGT c.654_656delinsGGT (p.Gln218=) n.669_671delinsGGT | |
11 | g.77156754G>A | CA381931941 | MYO7A | c.565G>A (p.Val189Ile) c.532G>A (p.Val178Ile) c.307G>A (p.Val103Ile) n.885G>A n.887G>A c.655G>A (p.Val219Ile) n.670G>A | |
11 | g.77156754G>C | CA381931942 | MYO7A | c.565G>C (p.Val189Leu) c.532G>C (p.Val178Leu) c.307G>C (p.Val103Leu) n.885G>C n.887G>C c.655G>C (p.Val219Leu) n.670G>C | |
11 | g.77156754G>T | CA381931943 | MYO7A | c.565G>T (p.Val189Phe) c.532G>T (p.Val178Phe) c.307G>T (p.Val103Phe) n.885G>T n.887G>T c.655G>T (p.Val219Phe) n.670G>T | |
11 | g.77156754_77156755del | CA16609395 | MYO7A | c.565_566del (p.Val189LeufsTer19) c.532_533del (p.Val178LeufsTer19) c.307_308del (p.Val103LeufsTer19) n.885_886del n.887_888del c.655_656del (p.Val219LeufsTer19) n.670_671del | ClinVar dbSNP |
11 | g.77156755T>A | CA381931944 | MYO7A | c.566T>A (p.Val189Asp) c.533T>A (p.Val178Asp) c.308T>A (p.Val103Asp) n.886T>A n.888T>A c.656T>A (p.Val219Asp) n.671T>A | |
11 | g.77156755T>C | CA381931946 | MYO7A | c.566T>C (p.Val189Ala) c.533T>C (p.Val178Ala) c.308T>C (p.Val103Ala) n.886T>C n.888T>C c.656T>C (p.Val219Ala) n.671T>C | |
11 | g.77156755T>G | CA381931945 | MYO7A | c.566T>G (p.Val189Gly) c.533T>G (p.Val178Gly) c.308T>G (p.Val103Gly) n.886T>G n.888T>G c.656T>G (p.Val219Gly) n.671T>G |