17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80104932G>A | CA401360836 | GAA | c.346G>A (p.Gly116Arg)
| |
17 | g.80104932G>C | CA401360838 | GAA | c.346G>C (p.Gly116Arg)
| |
17 | g.80104932G>T | CA401360840 | GAA | c.346G>T (p.Gly116Trp)
| gnomAD v4 |
17 | g.80104933G>A | CA401360844 | GAA | c.347G>A (p.Gly116Glu)
| ClinVar dbSNP |
17 | g.80104933G>C | CA401360842 | GAA | c.347G>C (p.Gly116Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104933G= | CA2277810730 | GAA | c.347G= (p.Gly116=)
| |
17 | g.80104933G>T | CA8814853 | GAA | c.347G>T (p.Gly116Val)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80104934G>A | CA502402242 | GAA | c.348G>A (p.Gly116=)
| |
17 | g.80104934G>C | CA502402243 | GAA | c.348G>C (p.Gly116=)
| |
17 | g.80104934G>T | CA502402244 | GAA | c.348G>T (p.Gly116=)
| ClinVar dbSNP |
17 | g.80104935C>A | CA401360846 | GAA | c.349C>A (p.Leu117Met)
| |
17 | g.80104935C>G | CA401360848 | GAA | c.349C>G (p.Leu117Val)
| |
17 | g.80104935C>T | CA502402245 | GAA | c.349C>T (p.Leu117=)
| |
17 | g.80104936T>A | CA401360850 | GAA | c.350T>A (p.Leu117Gln)
| |
17 | g.80104936T>C | CA401360852 | GAA | c.350T>C (p.Leu117Pro)
| |
17 | g.80104936T>G | CA401360853 | GAA | c.350T>G (p.Leu117Arg)
| |
17 | g.80104937G>A | CA8814854 | GAA | c.351G>A (p.Leu117=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104937G>C | CA502402246 | GAA | c.351G>C (p.Leu117=)
| |
17 | g.80104937G= | CA2277810731 | GAA | c.351G= (p.Leu117=)
| |
17 | g.80104937G>T | CA502402247 | GAA | c.351G>T (p.Leu117=)
| |
17 | g.80104938C>A | CA401360855 | GAA | c.352C>A (p.Gln118Lys)
| |
17 | g.80104938C= | CA2277810732 | GAA | c.352C= (p.Gln118=)
| |
17 | g.80104938C>G | CA401360857 | GAA | c.352C>G (p.Gln118Glu)
| |
17 | g.80104938C>T | CA401360858 | GAA | c.352C>T (p.Gln118Ter)
| ClinVar dbSNP |
17 | g.80104939A= | CA2277810733 | GAA | c.353A= (p.Gln118=)
| |
17 | g.80104939A>C | CA401360860 | GAA | c.353A>C (p.Gln118Pro)
| dbSNP |
17 | g.80104939A>G | CA401360861 | GAA | c.353A>G (p.Gln118Arg)
| dbSNP |
17 | g.80104939A>T | CA401360863 | GAA | c.353A>T (p.Gln118Leu)
| |
17 | g.80104940G>A | CA502402248 | GAA | c.354G>A (p.Gln118=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104940G>C | CA401360866 | GAA | c.354G>C (p.Gln118His)
| |
17 | g.80104940G= | CA2277810734 | GAA | c.354G= (p.Gln118=)
| |
17 | g.80104940G>T | CA401360864 | GAA | c.354G>T (p.Gln118His)
| |
17 | g.80104941G>A | CA401360869 | GAA | c.355G>A (p.Gly119Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104941G>C | CA401360870 | GAA | c.355G>C (p.Gly119Arg)
| |
17 | g.80104941G= | CA2277810735 | GAA | c.355G= (p.Gly119=)
| |
17 | g.80104941G>T | CA401360871 | GAA | c.355G>T (p.Gly119Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104942G>A | CA401360873 | GAA | c.356G>A (p.Gly119Glu)
| |
17 | g.80104942G>C | CA401360874 | GAA | c.356G>C (p.Gly119Ala)
| |
17 | g.80104942G>T | CA401360876 | GAA | c.356G>T (p.Gly119Val)
| |
17 | g.80104943A>C | CA502402249 | GAA | c.357A>C (p.Gly119=)
| ClinVar |
17 | g.80104943A>G | CA502402250 | GAA | c.357A>G (p.Gly119=)
| |
17 | g.80104943A>T | CA502402251 | GAA | c.357A>T (p.Gly119=)
| |
17 | g.80104944G>A | CA401360881 | GAA | c.358G>A (p.Ala120Thr)
| |
17 | g.80104944G>C | CA401360880 | GAA | c.358G>C (p.Ala120Pro)
| |
17 | g.80104944G>T | CA401360878 | GAA | c.358G>T (p.Ala120Ser)
| gnomAD v4 |
17 | g.80104945C>A | CA401360883 | GAA | c.359C>A (p.Ala120Asp)
| |
17 | g.80104945C= | CA2277810736 | GAA | c.359C= (p.Ala120=)
| |
17 | g.80104945C>G | CA8814855 | GAA | c.359C>G (p.Ala120Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104945C>T | CA401360885 | GAA | c.359C>T (p.Ala120Val)
| gnomAD v4 |
17 | g.80104946C>A | CA502402252 | GAA | c.360C>A (p.Ala120=)
| gnomAD v4 |
17 | g.80104946C>G | CA502402253 | GAA | c.360C>G (p.Ala120=)
| |
17 | g.80104946C>T | CA502402254 | GAA | c.360C>T (p.Ala120=)
| |
17 | g.80104947C>A | CA401360887 | GAA | c.361C>A (p.Gln121Lys)
| |
17 | g.80104947C= | CA2277810737 | GAA | c.361C= (p.Gln121=)
| |
17 | g.80104947C>G | CA401360889 | GAA | c.361C>G (p.Gln121Glu)
| |
17 | g.80104947C>T | CA8814856 | GAA | c.361C>T (p.Gln121Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104948A= | CA2277810738 | GAA | c.362A= (p.Gln121=)
| |
17 | g.80104948A>C | CA401360891 | GAA | c.362A>C (p.Gln121Pro)
| dbSNP |
17 | g.80104948A>G | CA8814857 | GAA | c.362A>G (p.Gln121Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104948A>T | CA401360893 | GAA | c.362A>T (p.Gln121Leu)
| |
17 | g.80104949G>A | CA502402255 | GAA | c.363G>A (p.Gln121=)
| |
17 | g.80104949G>C | CA401360895 | GAA | c.363G>C (p.Gln121His)
| |
17 | g.80104949G>T | CA401360896 | GAA | c.363G>T (p.Gln121His)
| gnomAD v4 |
17 | g.80104950A= | CA2277810740 | GAA | c.364A= (p.Met122=)
| |
17 | g.80104950A>C | CA401360898 | GAA | c.364A>C (p.Met122Leu)
| |
17 | g.80104950A>G | CA401360899 | GAA | c.364A>G (p.Met122Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104950A>T | CA401360901 | GAA | c.364A>T (p.Met122Leu)
| |
17 | g.80104950_80104951delinsAT | CA2277810739 | GAA | c.364_365delinsAT (p.Met122=)
| |
17 | g.80104951del | CA274330 | GAA | c.365del (p.Met122ArgfsTer20)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104951T>A | CA401360903 | GAA | c.365T>A (p.Met122Lys)
| |
17 | g.80104951T>C | CA401360906 | GAA | c.365T>C (p.Met122Thr)
| gnomAD v4 |
17 | g.80104951T>G | CA8814858 | GAA | c.365T>G (p.Met122Arg)
| dbSNP ExAC gnomAD v4 |
17 | g.80104951T= | CA2277810741 | GAA | c.365T= (p.Met122=)
| |
17 | g.80104952G>A | CA401360909 | GAA | c.366G>A (p.Met122Ile)
| |
17 | g.80104952G>C | CA401360911 | GAA | c.366G>C (p.Met122Ile)
| |
17 | g.80104952G>T | CA401360913 | GAA | c.366G>T (p.Met122Ile)
| |
17 | g.80104953G>A | CA401360915 | GAA | c.367G>A (p.Gly123Arg)
| dbSNP gnomAD v2 |
17 | g.80104953G>C | CA401360919 | GAA | c.367G>C (p.Gly123Arg)
| |
17 | g.80104953G= | CA2277810742 | GAA | c.367G= (p.Gly123=)
| |
17 | g.80104953G>T | CA401360917 | GAA | c.367G>T (p.Gly123Trp)
| |
17 | g.80104954G>A | CA8814859 | GAA | c.368G>A (p.Gly123Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104954G>C | CA401360922 | GAA | c.368G>C (p.Gly123Ala)
| |
17 | g.80104954G= | CA2277810743 | GAA | c.368G= (p.Gly123=)
| |
17 | g.80104954G>T | CA401360924 | GAA | c.368G>T (p.Gly123Val)
| ClinVar dbSNP |
17 | g.80104955G>A | CA8814860 | GAA | c.369G>A (p.Gly123=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104955G>C | CA502402256 | GAA | c.369G>C (p.Gly123=)
| |
17 | g.80104955G= | CA2277810744 | GAA | c.369G= (p.Gly123=)
| |
17 | g.80104955G>T | CA502402257 | GAA | c.369G>T (p.Gly123=)
| |
17 | g.80104957_80104967del | CA2695200347 | GAA | c.371_381del (p.Gln124LeufsTer18)
| ClinVar |
17 | g.80104956C>A | CA401360928 | GAA | c.370C>A (p.Gln124Lys)
| dbSNP |
17 | g.80104956C= | CA2277810745 | GAA | c.370C= (p.Gln124=)
| |
17 | g.80104956C>G | CA401360930 | GAA | c.370C>G (p.Gln124Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104956C>T | CA401360932 | GAA | c.370C>T (p.Gln124Ter)
| |
17 | g.80104957A>C | CA401360934 | GAA | c.371A>C (p.Gln124Pro)
| |
17 | g.80104957A>G | CA401360935 | GAA | c.371A>G (p.Gln124Arg)
| |
17 | g.80104957A>T | CA401360937 | GAA | c.371A>T (p.Gln124Leu)
| |
17 | g.80104958G>A | CA294887185 | GAA | c.372G>A (p.Gln124=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104958G>C | CA401360938 | GAA | c.372G>C (p.Gln124His)
| |
17 | g.80104958G= | CA2277810746 | GAA | c.372G= (p.Gln124=)
| |
17 | g.80104958G>T | CA401360940 | GAA | c.372G>T (p.Gln124His)
| |
17 | g.80104959C>A | CA401360944 | GAA | c.373C>A (p.Pro125Thr)
| |
17 | g.80104959C>G | CA401360941 | GAA | c.373C>G (p.Pro125Ala)
| |
17 | g.80104959C>T | CA401360942 | GAA | c.373C>T (p.Pro125Ser)
| gnomAD v4 |
17 | g.80104961del | CA2810576312 | GAA | c.375del (p.Trp126GlyfsTer16)
| |
17 | g.80104959_80104962delinsCCCT | CA2277810747 | GAA | c.373_376delinsCCCT (p.Pro125=)
| |
17 | g.80104960C>A | CA401360945 | GAA | c.374C>A (p.Pro125His)
| |
17 | g.80104960C>G | CA401360947 | GAA | c.374C>G (p.Pro125Arg)
| |
17 | g.80104960C>T | CA401360949 | GAA | c.374C>T (p.Pro125Leu)
| gnomAD v4 |
17 | g.80104960_80104962del | CA775508596 | GAA | c.374_376del (p.Pro125_Trp126delinsArg)
| dbSNP |
17 | g.80104961C>A | CA502402258 | GAA | c.375C>A (p.Pro125=)
| |
17 | g.80104961C>G | CA502402260 | GAA | c.375C>G (p.Pro125=)
| |
17 | g.80104961C>T | CA502402259 | GAA | c.375C>T (p.Pro125=)
| COSMIC |
17 | g.80104961_80104962del | CA913014078 | GAA | c.375_376del (p.Trp126ValfsTer19)
| |
17 | g.80104961_80104962delinsCT | CA2277810748 | GAA | c.375_376delinsCT (p.Pro125=)
| |
17 | g.80104962del | CA658824773 | GAA | c.376del (p.Trp126GlyfsTer16)
| ClinVar dbSNP |
17 | g.80104962T>A | CA401360951 | GAA | c.376T>A (p.Trp126Arg)
| |
17 | g.80104962T>C | CA401360953 | GAA | c.376T>C (p.Trp126Arg)
| dbSNP gnomAD v2 |
17 | g.80104962T>G | CA401360955 | GAA | c.376T>G (p.Trp126Gly)
| gnomAD v4 |
17 | g.80104962T= | CA2277810749 | GAA | c.376T= (p.Trp126=)
| |
17 | g.80104964_80104966del | CA913014079 | GAA | c.378_380del (p.Trp126del)
| |
17 | g.80104963G>A | CA294887189 | GAA | c.377G>A (p.Trp126Ter)
| ClinVar dbSNP |
17 | g.80104963G>C | CA401360958 | GAA | c.377G>C (p.Trp126Ser)
| dbSNP gnomAD v4 |
17 | g.80104963G= | CA2277810751 | GAA | c.377G= (p.Trp126=)
| |
17 | g.80104963G>T | CA401360960 | GAA | c.377G>T (p.Trp126Leu)
| |
17 | g.80104963_80104965delinsGGT | CA2277810750 | GAA | c.377_379delinsGGT (p.Trp126=)
| |
17 | g.80104964G>A | CA401360961 | GAA | c.378G>A (p.Trp126Ter)
| ClinVar dbSNP |
17 | g.80104964G>C | CA401360963 | GAA | c.378G>C (p.Trp126Cys)
| |
17 | g.80104964G= | CA2277810752 | GAA | c.378G= (p.Trp126=)
| |
17 | g.80104964G>T | CA401360964 | GAA | c.378G>T (p.Trp126Cys)
| gnomAD v4 |
17 | g.80104965_80104966del | CA658795227 | GAA | c.379_380del (p.Cys127LeufsTer18)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104965T>A | CA401360968 | GAA | c.379T>A (p.Cys127Ser)
| |
17 | g.80104965T>C | CA401360970 | GAA | c.379T>C (p.Cys127Arg)
| gnomAD v4 |
17 | g.80104965T>G | CA401360967 | GAA | c.379T>G (p.Cys127Gly)
| |
17 | g.80104966G>A | CA401360975 | GAA | c.380G>A (p.Cys127Tyr)
| |
17 | g.80104966G>C | CA401360972 | GAA | c.380G>C (p.Cys127Ser)
| |
17 | g.80104966G>T | CA401360974 | GAA | c.380G>T (p.Cys127Phe)
| COSMIC |
17 | g.80104966_80104969delinsGCTT | CA2277810753 | GAA | c.380_383delinsGCTT (p.Cys127=)
| |
17 | g.80104967C>A | CA401360977 | GAA | c.381C>A (p.Cys127Ter)
| |
17 | g.80104967C= | CA2277810754 | GAA | c.381C= (p.Cys127=)
| |
17 | g.80104967C>G | CA401360978 | GAA | c.381C>G (p.Cys127Trp)
| |
17 | g.80104967C>T | CA502402261 | GAA | c.381C>T (p.Cys127=)
| ClinVar dbSNP |
17 | g.80104971_80104973del | CA986720965 | GAA | c.385_387del (p.Phe129del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104968T>A | CA401360980 | GAA | c.382T>A (p.Phe128Ile)
| |
17 | g.80104968T>C | CA401360981 | GAA | c.382T>C (p.Phe128Leu)
| |
17 | g.80104968T>G | CA401360983 | GAA | c.382T>G (p.Phe128Val)
| dbSNP gnomAD v4 |
17 | g.80104968T= | CA2277810755 | GAA | c.382T= (p.Phe128=)
| |
17 | g.80104969T>A | CA401360988 | GAA | c.383T>A (p.Phe128Tyr)
| |
17 | g.80104969T>C | CA401360986 | GAA | c.383T>C (p.Phe128Ser)
| ClinVar dbSNP |
17 | g.80104969T>G | CA401360987 | GAA | c.383T>G (p.Phe128Cys)
| |
17 | g.80104969T= | CA2277810756 | GAA | c.383T= (p.Phe128=)
| |
17 | g.80104970C>A | CA401360990 | GAA | c.384C>A (p.Phe128Leu)
| gnomAD v4 |
17 | g.80104970C= | CA2277810757 | GAA | c.384C= (p.Phe128=)
| |
17 | g.80104970C>G | CA401360992 | GAA | c.384C>G (p.Phe128Leu)
| |
17 | g.80104970C>T | CA294887195 | GAA | c.384C>T (p.Phe128=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104971T>A | CA401360994 | GAA | c.385T>A (p.Phe129Ile)
| |
17 | g.80104971T>C | CA401360996 | GAA | c.385T>C (p.Phe129Leu)
| |
17 | g.80104971T>G | CA401360998 | GAA | c.385T>G (p.Phe129Val)
| |
17 | g.80104972T>A | CA401360999 | GAA | c.386T>A (p.Phe129Tyr)
| |
17 | g.80104972T>C | CA401361003 | GAA | c.386T>C (p.Phe129Ser)
| |
17 | g.80104972T>G | CA401361001 | GAA | c.386T>G (p.Phe129Cys)
| |
17 | g.80104973C>A | CA401361005 | GAA | c.387C>A (p.Phe129Leu)
| |
17 | g.80104973C>G | CA401361006 | GAA | c.387C>G (p.Phe129Leu)
| gnomAD v4 |
17 | g.80104973C>T | CA502402262 | GAA | c.387C>T (p.Phe129=)
| |
17 | g.80104975del | CA2695200348 | GAA | c.389del (p.Pro130HisfsTer12)
| ClinVar |
17 | g.80104974C>A | CA401361008 | GAA | c.388C>A (p.Pro130Thr)
| |
17 | g.80104974C= | CA2277810758 | GAA | c.388C= (p.Pro130=)
| |
17 | g.80104974C>G | CA401361009 | GAA | c.388C>G (p.Pro130Ala)
| |
17 | g.80104974C>T | CA8814861 | GAA | c.388C>T (p.Pro130Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104975C>A | CA401361012 | GAA | c.389C>A (p.Pro130Gln)
| |
17 | g.80104975C= | CA2277810759 | GAA | c.389C= (p.Pro130=)
| |
17 | g.80104975C>G | CA401361014 | GAA | c.389C>G (p.Pro130Arg)
| ClinVar gnomAD v4 |
17 | g.80104975C>T | CA8814862 | GAA | c.389C>T (p.Pro130Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104976A= | CA2277810760 | GAA | c.390A= (p.Pro130=)
| |
17 | g.80104976A>C | CA502402263 | GAA | c.390A>C (p.Pro130=)
| dbSNP gnomAD v4 |
17 | g.80104976A>G | CA502402264 | GAA | c.390A>G (p.Pro130=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104976A>T | CA502402265 | GAA | c.390A>T (p.Pro130=)
| |
17 | g.80104976dup | CA913014081 | GAA | c.390dup (p.Pro131ThrfsTer15)
| |
17 | g.80104976_80104977delinsAC | CA2277810761 | GAA | c.390_391delinsAC (p.Pro130=)
| |
17 | g.80104977C>A | CA401361016 | GAA | c.391C>A (p.Pro131Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104977C= | CA2277810762 | GAA | c.391C= (p.Pro131=)
| |
17 | g.80104977C>G | CA401361018 | GAA | c.391C>G (p.Pro131Ala)
| |
17 | g.80104977C>T | CA401361020 | GAA | c.391C>T (p.Pro131Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104979del | CA16041882 | GAA | c.393del (p.Ser132AlafsTer10)
| ClinVar dbSNP |
17 | g.80104986_80104994dup | CA658824774 | GAA | c.400_408dup (p.Tyr136_Lys137insProSerTyr)
| ClinVar dbSNP |
17 | g.80104978C>A | CA401361023 | GAA | c.392C>A (p.Pro131His)
| |
17 | g.80104978C>G | CA401361025 | GAA | c.392C>G (p.Pro131Arg)
| |
17 | g.80104978C>T | CA401361026 | GAA | c.392C>T (p.Pro131Leu)
| |
17 | g.80104979C>A | CA502402266 | GAA | c.393C>A (p.Pro131=)
| |
17 | g.80104979C= | CA2277810763 | GAA | c.393C= (p.Pro131=)
| |
17 | g.80104979C>G | CA8814863 | GAA | c.393C>G (p.Pro131=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104979C>T | CA502402267 | GAA | c.393C>T (p.Pro131=)
| COSMIC |
17 | g.80104980A>C | CA401361029 | GAA | c.394A>C (p.Ser132Arg)
| |
17 | g.80104980A>G | CA401361031 | GAA | c.394A>G (p.Ser132Gly)
| gnomAD v4 COSMIC |
17 | g.80104980A>T | CA401361032 | GAA | c.394A>T (p.Ser132Cys)
| |
17 | g.80104981G>A | CA401361035 | GAA | c.395G>A (p.Ser132Asn)
| gnomAD v4 |
17 | g.80104981G>C | CA8814864 | GAA | c.395G>C (p.Ser132Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104981G= | CA2277810764 | GAA | c.395G= (p.Ser132=)
| |
17 | g.80104981G>T | CA401361038 | GAA | c.395G>T (p.Ser132Ile)
| |
17 | g.80104982C>A | CA401361040 | GAA | c.396C>A (p.Ser132Arg)
| |
17 | g.80104982C>G | CA401361041 | GAA | c.396C>G (p.Ser132Arg)
| ClinVar dbSNP |
17 | g.80104982C>T | CA502402268 | GAA | c.396C>T (p.Ser132=)
| |
17 | g.80104982dup | CA2695200349 | GAA | c.396dup (p.Tyr133LeufsTer13)
| ClinVar |
17 | g.80104983T>A | CA401361042 | GAA | c.397T>A (p.Tyr133Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104983T>C | CA401361044 | GAA | c.397T>C (p.Tyr133His)
| dbSNP gnomAD v4 |
17 | g.80104983T>G | CA401361046 | GAA | c.397T>G (p.Tyr133Asp)
| gnomAD v4 |
17 | g.80104983T= | CA2277810765 | GAA | c.397T= (p.Tyr133=)
| |
17 | g.80104984A>C | CA401361048 | GAA | c.398A>C (p.Tyr133Ser)
| |
17 | g.80104984A>G | CA401361052 | GAA | c.398A>G (p.Tyr133Cys)
| |
17 | g.80104984A>T | CA401361050 | GAA | c.398A>T (p.Tyr133Phe)
| |
17 | g.80104985C>A | CA401361056 | GAA | c.399C>A (p.Tyr133Ter)
| ClinVar dbSNP |
17 | g.80104985C= | CA2277810766 | GAA | c.399C= (p.Tyr133=)
| |
17 | g.80104985C>G | CA401361058 | GAA | c.399C>G (p.Tyr133Ter)
| |
17 | g.80104985C>T | CA502402269 | GAA | c.399C>T (p.Tyr133=)
| ClinVar gnomAD v4 |
17 | g.80104986C>A | CA401361061 | GAA | c.400C>A (p.Pro134Thr)
| |
17 | g.80104986C= | CA2277810767 | GAA | c.400C= (p.Pro134=)
| |
17 | g.80104986C>G | CA401361063 | GAA | c.400C>G (p.Pro134Ala)
| |
17 | g.80104986C>T | CA8814865 | GAA | c.400C>T (p.Pro134Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104987C>A | CA401361069 | GAA | c.401C>A (p.Pro134His)
| |
17 | g.80104987C= | CA2277810768 | GAA | c.401C= (p.Pro134=)
| |
17 | g.80104987C>G | CA401361071 | GAA | c.401C>G (p.Pro134Arg)
| dbSNP |
17 | g.80104987C>T | CA401361074 | GAA | c.401C>T (p.Pro134Leu)
| COSMIC |
17 | g.80104988C>A | CA502402270 | GAA | c.402C>A (p.Pro134=)
| gnomAD v4 |
17 | g.80104988C>G | CA502402273 | GAA | c.402C>G (p.Pro134=)
| |
17 | g.80104988C>T | CA502402272 | GAA | c.402C>T (p.Pro134=)
| |
17 | g.80104989A>C | CA401361077 | GAA | c.403A>C (p.Ser135Arg)
| |
17 | g.80104989A>G | CA401361079 | GAA | c.403A>G (p.Ser135Gly)
| gnomAD v4 |
17 | g.80104989A>T | CA401361080 | GAA | c.403A>T (p.Ser135Cys)
| |
17 | g.80104990G>A | CA401361083 | GAA | c.404G>A (p.Ser135Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104990G>C | CA401361085 | GAA | c.404G>C (p.Ser135Thr)
| |
17 | g.80104990G= | CA2277810769 | GAA | c.404G= (p.Ser135=)
| |
17 | g.80104990G>T | CA401361081 | GAA | c.404G>T (p.Ser135Ile)
| |
17 | g.80104991C>A | CA8814866 | GAA | c.405C>A (p.Ser135Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80104991C= | CA2277810770 | GAA | c.405C= (p.Ser135=)
| |
17 | g.80104991C>G | CA401361088 | GAA | c.405C>G (p.Ser135Arg)
| |
17 | g.80104991C>T | CA502402274 | GAA | c.405C>T (p.Ser135=)
| |
17 | g.80104992T>A | CA401361091 | GAA | c.406T>A (p.Tyr136Asn)
| |
17 | g.80104992T>C | CA401361093 | GAA | c.406T>C (p.Tyr136His)
| |
17 | g.80104992T>G | CA401361109 | GAA | c.406T>G (p.Tyr136Asp)
| |
17 | g.80104993A>C | CA401361121 | GAA | c.407A>C (p.Tyr136Ser)
| |
17 | g.80104993A>G | CA401361124 | GAA | c.407A>G (p.Tyr136Cys)
| ClinVar gnomAD v4 |
17 | g.80104993A>T | CA401361128 | GAA | c.407A>T (p.Tyr136Phe)
| |
17 | g.80104995_80105006del | CA2640275634 | GAA | c.409_420del (p.Lys137_Asn140del)
| gnomAD v4 |
17 | g.80104994C>A | CA401361132 | GAA | c.408C>A (p.Tyr136Ter)
| |
17 | g.80104994C= | CA2277810771 | GAA | c.408C= (p.Tyr136=)
| |
17 | g.80104994C>G | CA401361133 | GAA | c.408C>G (p.Tyr136Ter)
| dbSNP gnomAD v4 |
17 | g.80104994C>T | CA8814867 | GAA | c.408C>T (p.Tyr136=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104995A>C | CA401361140 | GAA | c.409A>C (p.Lys137Gln)
| |
17 | g.80104995A>G | CA401361142 | GAA | c.409A>G (p.Lys137Glu)
| |
17 | g.80104995A>T | CA401361144 | GAA | c.409A>T (p.Lys137Ter)
| |
17 | g.80104996A>C | CA401361165 | GAA | c.410A>C (p.Lys137Thr)
| |
17 | g.80104996A>G | CA401361159 | GAA | c.410A>G (p.Lys137Arg)
| |
17 | g.80104996A>T | CA401361161 | GAA | c.410A>T (p.Lys137Met)
| |
17 | g.80104997G>A | CA502402279 | GAA | c.411G>A (p.Lys137=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104997G>C | CA401361167 | GAA | c.411G>C (p.Lys137Asn)
| |
17 | g.80104997G= | CA2277810772 | GAA | c.411G= (p.Lys137=)
| |
17 | g.80104997G>T | CA401361169 | GAA | c.411G>T (p.Lys137Asn)
| |
17 | g.80104998C>A | CA401361172 | GAA | c.412C>A (p.Leu138Met)
| COSMIC |
17 | g.80104998C= | CA2277810773 | GAA | c.412C= (p.Leu138=)
| |
17 | g.80104998C>G | CA8814868 | GAA | c.412C>G (p.Leu138Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104998C>T | CA502402280 | GAA | c.412C>T (p.Leu138=)
| gnomAD v4 |
17 | g.80104999T>A | CA401361175 | GAA | c.413T>A (p.Leu138Gln)
| |
17 | g.80104999T>C | CA401361177 | GAA | c.413T>C (p.Leu138Pro)
| |
17 | g.80104999T>G | CA401361179 | GAA | c.413T>G (p.Leu138Arg)
| |
17 | g.80105000G>A | CA502402284 | GAA | c.414G>A (p.Leu138=)
| ClinVar |
17 | g.80105000G>C | CA502402285 | GAA | c.414G>C (p.Leu138=)
| |
17 | g.80105000G>T | CA502402286 | GAA | c.414G>T (p.Leu138=)
| |
17 | g.80105001G>A | CA294887228 | GAA | c.415G>A (p.Glu139Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105001G>C | CA401361185 | GAA | c.415G>C (p.Glu139Gln)
| |
17 | g.80105001G= | CA2277810774 | GAA | c.415G= (p.Glu139=)
| |
17 | g.80105001G>T | CA401361188 | GAA | c.415G>T (p.Glu139Ter)
| |
17 | g.80105002A>C | CA401361189 | GAA | c.416A>C (p.Glu139Ala)
| |
17 | g.80105002A>G | CA401361192 | GAA | c.416A>G (p.Glu139Gly)
| |
17 | g.80105002A>T | CA401361195 | GAA | c.416A>T (p.Glu139Val)
| |
17 | g.80105003G>A | CA502402287 | GAA | c.417G>A (p.Glu139=)
| |
17 | g.80105003G>C | CA401361199 | GAA | c.417G>C (p.Glu139Asp)
| |
17 | g.80105003G>T | CA401361203 | GAA | c.417G>T (p.Glu139Asp)
| |
17 | g.80105004A>C | CA401361206 | GAA | c.418A>C (p.Asn140His)
| |
17 | g.80105004A>G | CA401361209 | GAA | c.418A>G (p.Asn140Asp)
| gnomAD v4 |
17 | g.80105004A>T | CA401361212 | GAA | c.418A>T (p.Asn140Tyr)
| |
17 | g.80105005A>C | CA401361216 | GAA | c.419A>C (p.Asn140Thr)
| |
17 | g.80105005A>G | CA401361219 | GAA | c.419A>G (p.Asn140Ser)
| |
17 | g.80105005A>T | CA401361221 | GAA | c.419A>T (p.Asn140Ile)
| ClinVar |
17 | g.80105006C>A | CA8814869 | GAA | c.420C>A (p.Asn140Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105006C= | CA2277810775 | GAA | c.420C= (p.Asn140=)
| |
17 | g.80105006C>G | CA401361226 | GAA | c.420C>G (p.Asn140Lys)
| |
17 | g.80105006C>T | CA294887240 | GAA | c.420C>T (p.Asn140=)
| dbSNP |
17 | g.80105007C>A | CA401361229 | GAA | c.421C>A (p.Leu141Met)
| ClinVar dbSNP |
17 | g.80105007C= | CA2277810776 | GAA | c.421C= (p.Leu141=)
| |
17 | g.80105007C>G | CA401361231 | GAA | c.421C>G (p.Leu141Val)
| gnomAD v4 |
17 | g.80105007C>T | CA502402289 | GAA | c.421C>T (p.Leu141=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105008T>A | CA401361236 | GAA | c.422T>A (p.Leu141Gln)
| |
17 | g.80105008T>C | CA401361238 | GAA | c.422T>C (p.Leu141Pro)
| |
17 | g.80105008T>G | CA401361241 | GAA | c.422T>G (p.Leu141Arg)
| |
17 | g.80105009G>A | CA502402292 | GAA | c.423G>A (p.Leu141=)
| ClinVar |
17 | g.80105009G>C | CA502402294 | GAA | c.423G>C (p.Leu141=)
| |
17 | g.80105009G>T | CA502402293 | GAA | c.423G>T (p.Leu141=)
| ClinVar dbSNP |
17 | g.80105010_80105026del | CA658795228 | GAA | c.424_440del (p.Ser142LeufsTer29)
| ClinVar |
17 | g.80105010A>C | CA401361247 | GAA | c.424A>C (p.Ser142Arg)
| |
17 | g.80105010A>G | CA401361251 | GAA | c.424A>G (p.Ser142Gly)
| |
17 | g.80105010A>T | CA401361244 | GAA | c.424A>T (p.Ser142Cys)
| |
17 | g.80105010_80105011insTCAG | CA2810576313 | GAA | c.424_425insTCAG (p.Ser142IlefsTer5)
| |
17 | g.80105011G>A | CA8814870 | GAA | c.425G>A (p.Ser142Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105011G>C | CA401361257 | GAA | c.425G>C (p.Ser142Thr)
| |
17 | g.80105011G= | CA2277810777 | GAA | c.425G= (p.Ser142=)
| |
17 | g.80105011G>T | CA401361259 | GAA | c.425G>T (p.Ser142Ile)
| |
17 | g.80105011_80105014delinsGCTC | CA2277810778 | GAA | c.425_428delinsGCTC (p.Ser142=)
| |
17 | g.80105012C>A | CA8814871 | GAA | c.426C>A (p.Ser142Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105012C= | CA2277810779 | GAA | c.426C= (p.Ser142=)
| |
17 | g.80105012C>G | CA401361267 | GAA | c.426C>G (p.Ser142Arg)
| COSMIC |
17 | g.80105012C>T | CA502402295 | GAA | c.426C>T (p.Ser142=)
| dbSNP |
17 | g.80105015_80105017del | CA986720993 | GAA | c.429_431del (p.Ser144del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105013T>A | CA401361282 | GAA | c.427T>A (p.Ser143Thr)
| gnomAD v4 |
17 | g.80105013T>C | CA401361271 | GAA | c.427T>C (p.Ser143Pro)
| dbSNP gnomAD v2 |
17 | g.80105013T>G | CA401361278 | GAA | c.427T>G (p.Ser143Ala)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105013T= | CA2277810780 | GAA | c.427T= (p.Ser143=)
| |
17 | g.80105014C>A | CA401361285 | GAA | c.428C>A (p.Ser143Tyr)
| |
17 | g.80105014C= | CA2277810781 | GAA | c.428C= (p.Ser143=)
| |
17 | g.80105014C>G | CA401361288 | GAA | c.428C>G (p.Ser143Cys)
| dbSNP |
17 | g.80105014C>T | CA401361290 | GAA | c.428C>T (p.Ser143Phe)
| gnomAD v4 |
17 | g.80105015C>A | CA502402298 | GAA | c.429C>A (p.Ser143=)
| gnomAD v4 |
17 | g.80105015C= | CA2277810782 | GAA | c.429C= (p.Ser143=)
| |
17 | g.80105015C>G | CA502402299 | GAA | c.429C>G (p.Ser143=)
| dbSNP |
17 | g.80105015C>T | CA502402300 | GAA | c.429C>T (p.Ser143=)
| gnomAD v4 |
17 | g.80105016T>A | CA401361295 | GAA | c.430T>A (p.Ser144Thr)
| |
17 | g.80105016T>C | CA401361297 | GAA | c.430T>C (p.Ser144Pro)
| |
17 | g.80105016T>G | CA401361301 | GAA | c.430T>G (p.Ser144Ala)
| |
17 | g.80105017C>A | CA401361310 | GAA | c.431C>A (p.Ser144Tyr)
| |
17 | g.80105017C>G | CA401361307 | GAA | c.431C>G (p.Ser144Cys)
| |
17 | g.80105017C>T | CA401361304 | GAA | c.431C>T (p.Ser144Phe)
| |
17 | g.80105018T>A | CA502402306 | GAA | c.432T>A (p.Ser144=)
| |
17 | g.80105018T>C | CA502402303 | GAA | c.432T>C (p.Ser144=)
| |
17 | g.80105018T>G | CA502402304 | GAA | c.432T>G (p.Ser144=)
| |
17 | g.80105019G>A | CA401361317 | GAA | c.433G>A (p.Glu145Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105019G>C | CA401361314 | GAA | c.433G>C (p.Glu145Gln)
| |
17 | g.80105019G>T | CA401361319 | GAA | c.433G>T (p.Glu145Ter)
| |
17 | g.80105020A>C | CA401361325 | GAA | c.434A>C (p.Glu145Ala)
| |
17 | g.80105020A>G | CA401361331 | GAA | c.434A>G (p.Glu145Gly)
| |
17 | g.80105020A>T | CA401361327 | GAA | c.434A>T (p.Glu145Val)
| |
17 | g.80105021A= | CA2277810783 | GAA | c.435A= (p.Glu145=)
| |
17 | g.80105021A>C | CA401361335 | GAA | c.435A>C (p.Glu145Asp)
| |
17 | g.80105021A>G | CA502402310 | GAA | c.435A>G (p.Glu145=)
| |
17 | g.80105021A>T | CA8814872 | GAA | c.435A>T (p.Glu145Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105022A>C | CA401361340 | GAA | c.436A>C (p.Met146Leu)
| |
17 | g.80105022A>G | CA401361343 | GAA | c.436A>G (p.Met146Val)
| gnomAD v4 |
17 | g.80105022A>T | CA401361345 | GAA | c.436A>T (p.Met146Leu)
| |
17 | g.80105022_80105023del | CA913014082 | GAA | c.436_437del (p.Met146GlyfsTer30)
| |
17 | g.80105022_80105023delinsAT | CA2277810784 | GAA | c.436_437delinsAT (p.Met146=)
| |
17 | g.80105023del | CA658824775 | GAA | c.437del (p.Met146ArgfsTer7)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105023T>A | CA401361353 | GAA | c.437T>A (p.Met146Lys)
| |
17 | g.80105023T>C | CA401361355 | GAA | c.437T>C (p.Met146Thr)
| |
17 | g.80105023T>G | CA401361360 | GAA | c.437T>G (p.Met146Arg)
| |
17 | g.80105024G>A | CA401361364 | GAA | c.438G>A (p.Met146Ile)
| |
17 | g.80105024G>C | CA401361366 | GAA | c.438G>C (p.Met146Ile)
| |
17 | g.80105024G= | CA2277810785 | GAA | c.438G= (p.Met146=)
| |
17 | g.80105024G>T | CA401361370 | GAA | c.438G>T (p.Met146Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105025G>A | CA401361382 | GAA | c.439G>A (p.Gly147Ser)
| COSMIC |
17 | g.80105025G>C | CA401361378 | GAA | c.439G>C (p.Gly147Arg)
| |
17 | g.80105025G>T | CA401361376 | GAA | c.439G>T (p.Gly147Cys)
| |
17 | g.80105026G>A | CA401361386 | GAA | c.440G>A (p.Gly147Asp)
| |
17 | g.80105026G>C | CA401361388 | GAA | c.440G>C (p.Gly147Ala)
| |
17 | g.80105026G>T | CA401361391 | GAA | c.440G>T (p.Gly147Val)
| |
17 | g.80105027C>A | CA502402315 | GAA | c.441C>A (p.Gly147=)
| |
17 | g.80105027C>G | CA502402317 | GAA | c.441C>G (p.Gly147=)
| |
17 | g.80105027C>T | CA502402319 | GAA | c.441C>T (p.Gly147=)
| |
17 | g.80105028T>A | CA401361395 | GAA | c.442T>A (p.Tyr148Asn)
| |
17 | g.80105028T>C | CA401361396 | GAA | c.442T>C (p.Tyr148His)
| |
17 | g.80105028T>G | CA401361399 | GAA | c.442T>G (p.Tyr148Asp)
| |
17 | g.80105029A>C | CA401361404 | GAA | c.443A>C (p.Tyr148Ser)
| |
17 | g.80105029A>G | CA401361407 | GAA | c.443A>G (p.Tyr148Cys)
| |
17 | g.80105029A>T | CA401361410 | GAA | c.443A>T (p.Tyr148Phe)
| |
17 | g.80105030C>A | CA401361413 | GAA | c.444C>A (p.Tyr148Ter)
| |
17 | g.80105030C= | CA2277810786 | GAA | c.444C= (p.Tyr148=)
| |
17 | g.80105030C>G | CA401361416 | GAA | c.444C>G (p.Tyr148Ter)
| ClinVar dbSNP |
17 | g.80105030C>T | CA10605123 | GAA | c.444C>T (p.Tyr148=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105031A>C | CA401361429 | GAA | c.445A>C (p.Thr149Pro)
| |
17 | g.80105031A>G | CA401361426 | GAA | c.445A>G (p.Thr149Ala)
| gnomAD v4 |
17 | g.80105031A>T | CA401361423 | GAA | c.445A>T (p.Thr149Ser)
| |
17 | g.80105032C>A | CA401361436 | GAA | c.446C>A (p.Thr149Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105032C= | CA2277810787 | GAA | c.446C= (p.Thr149=)
| |
17 | g.80105032C>G | CA401361432 | GAA | c.446C>G (p.Thr149Arg)
| |
17 | g.80105032C>T | CA8814873 | GAA | c.446C>T (p.Thr149Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105032dup | CA913014083 | GAA | c.446dup (p.Ala150GlyfsTer27)
| |