Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160135246G>A | CA256633 | ATP1A2 | c.2066G>A (p.Arg689Gln) c.1198G>A n.2169G>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.160135246G>C | CA343248670 | ATP1A2 | c.2066G>C (p.Arg689Pro) c.1198G>C n.2169G>C | |
1 | g.160135246G= | CA1140495932 | ATP1A2 | c.2066G= (p.Arg689=) c.1198G= n.2169G= | |
1 | g.160135246G>T | CA343248671 | ATP1A2 | c.2066G>T (p.Arg689Leu) c.1198G>T n.2169G>T | |
1 | g.160135247A>C | CA421600416 | ATP1A2 | c.2067A>C (p.Arg689=) c.1199A>C n.2170A>C | |
1 | g.160135247A>G | CA421600417 | ATP1A2 | c.2067A>G (p.Arg689=) c.1199A>G n.2170A>G | |
1 | g.160135247A>T | CA421600415 | ATP1A2 | c.2067A>T (p.Arg689=) c.1199A>T n.2170A>T | |
1 | g.160135248A>C | CA343248674 | ATP1A2 | c.2068A>C (p.Thr690Pro) c.1200A>C n.2171A>C | |
1 | g.160135248A>G | CA343248673 | ATP1A2 | c.2068A>G (p.Thr690Ala) c.1200A>G n.2171A>G | |
1 | g.160135248A>T | CA343248672 | ATP1A2 | c.2068A>T (p.Thr690Ser) c.1200A>T n.2171A>T | |
1 | g.160135249C>A | CA343248675 | ATP1A2 | c.2069C>A (p.Thr690Lys) c.1201C>A n.2172C>A | |
1 | g.160135249C= | CA1202195055 | ATP1A2 | c.2069C= (p.Thr690=) c.1201C= n.2172C= | |
1 | g.160135249C>G | CA343248676 | ATP1A2 | c.2069C>G (p.Thr690Arg) c.1201C>G n.2172C>G | ClinVar |
1 | g.160135249C>T | CA31500991 | ATP1A2 | c.2069C>T (p.Thr690Met) c.1201C>T n.2172C>T | dbSNP gnomAD v4 |
1 | g.160135250del | CA2580061275 | ATP1A2 | c.2070del (p.Ser691LeufsTer21) c.1202del n.2173del | ClinVar |
1 | g.160135250G>A | CA1194652 | ATP1A2 | c.2070G>A (p.Thr690=) c.1202G>A n.2173G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135250G>C | CA421600418 | ATP1A2 | c.2070G>C (p.Thr690=) c.1202G>C n.2173G>C | |
1 | g.160135250G= | CA1141893968 | ATP1A2 | c.2070G= (p.Thr690=) c.1202G= n.2173G= | |
1 | g.160135250G>T | CA421600419 | ATP1A2 | c.2070G>T (p.Thr690=) c.1202G>T n.2173G>T | |
1 | g.160135251T>A | CA343248677 | ATP1A2 | c.2071T>A (p.Ser691Thr) c.1203T>A n.2174T>A | |
1 | g.160135251T>C | CA343248678 | ATP1A2 | c.2071T>C (p.Ser691Pro) c.1203T>C n.2174T>C | |
1 | g.160135251T>G | CA343248679 | ATP1A2 | c.2071T>G (p.Ser691Ala) c.1203T>G n.2174T>G | |
1 | g.160135252C>A | CA343248680 | ATP1A2 | c.2072C>A (p.Ser691Tyr) c.1204C>A n.2175C>A | |
1 | g.160135252C>G | CA343248681 | ATP1A2 | c.2072C>G (p.Ser691Cys) c.1204C>G n.2175C>G | |
1 | g.160135252C>T | CA343248682 | ATP1A2 | c.2072C>T (p.Ser691Phe) c.1204C>T n.2175C>T | ClinVar |
1 | g.160135253T>A | CA421600426 | ATP1A2 | c.2073T>A (p.Ser691=) c.1205T>A n.2176T>A | |
1 | g.160135253T>C | CA421600424 | ATP1A2 | c.2073T>C (p.Ser691=) c.1205T>C n.2176T>C | |
1 | g.160135253T>G | CA421600423 | ATP1A2 | c.2073T>G (p.Ser691=) c.1205T>G n.2176T>G | |
1 | g.160135254C>A | CA343248683 | ATP1A2 | c.2074C>A (p.Pro692Thr) c.1206C>A n.2177C>A | ClinVar |
1 | g.160135254C>G | CA343248684 | ATP1A2 | c.2074C>G (p.Pro692Ala) c.1206C>G n.2177C>G | |
1 | g.160135254C>T | CA343248685 | ATP1A2 | c.2074C>T (p.Pro692Ser) c.1206C>T n.2177C>T | |
1 | g.160135255C>A | CA343248688 | ATP1A2 | c.2075C>A (p.Pro692His) c.1207C>A n.2178C>A | |
1 | g.160135255C>G | CA343248687 | ATP1A2 | c.2075C>G (p.Pro692Arg) c.1207C>G n.2178C>G | |
1 | g.160135255C>T | CA343248686 | ATP1A2 | c.2075C>T (p.Pro692Leu) c.1207C>T n.2178C>T | COSMIC |
1 | g.160135256C>A | CA421600429 | ATP1A2 | c.2076C>A (p.Pro692=) c.1208C>A n.2179C>A | gnomAD v4 |
1 | g.160135256C>G | CA421600430 | ATP1A2 | c.2076C>G (p.Pro692=) c.1208C>G n.2179C>G | |
1 | g.160135256C>T | CA421600431 | ATP1A2 | c.2076C>T (p.Pro692=) c.1208C>T n.2179C>T | |
1 | g.160135257C>A | CA343248689 | ATP1A2 | c.2077C>A (p.Gln693Lys) c.1209C>A n.2180C>A | |
1 | g.160135257C>G | CA343248691 | ATP1A2 | c.2077C>G (p.Gln693Glu) c.1209C>G n.2180C>G | |
1 | g.160135257C>T | CA343248690 | ATP1A2 | c.2077C>T (p.Gln693Ter) c.1209C>T n.2180C>T | |
1 | g.160135258A>C | CA343248692 | ATP1A2 | c.2078A>C (p.Gln693Pro) c.1210A>C n.2181A>C | |
1 | g.160135258A>G | CA343248693 | ATP1A2 | c.2078A>G (p.Gln693Arg) c.1210A>G n.2181A>G | |
1 | g.160135258A>T | CA343248694 | ATP1A2 | c.2078A>T (p.Gln693Leu) c.1210A>T n.2181A>T | |
1 | g.160135259G>A | CA421600433 | ATP1A2 | c.2079G>A (p.Gln693=) c.1211G>A n.2182G>A | dbSNP gnomAD v2 |
1 | g.160135259G>C | CA343248695 | ATP1A2 | c.2079G>C (p.Gln693His) c.1211G>C n.2182G>C | |
1 | g.160135259G= | CA1202195056 | ATP1A2 | c.2079G= (p.Gln693=) c.1211G= n.2182G= | |
1 | g.160135259G>T | CA343248696 | ATP1A2 | c.2079G>T (p.Gln693His) c.1211G>T n.2182G>T | |
1 | g.160135260del | CA2574131061 | ATP1A2 | c.2080del (p.Gln694ArgfsTer18) c.1212del n.2183del | |
1 | g.160135260C>A | CA31500998 | ATP1A2 | c.2080C>A (p.Gln694Lys) c.1212C>A n.2183C>A | ClinVar dbSNP |
1 | g.160135260C= | CA1202195057 | ATP1A2 | c.2080C= (p.Gln694=) c.1212C= n.2183C= | |
1 | g.160135260C>G | CA343248697 | ATP1A2 | c.2080C>G (p.Gln694Glu) c.1212C>G n.2183C>G | |
1 | g.160135260C>T | CA343248698 | ATP1A2 | c.2080C>T (p.Gln694Ter) c.1212C>T n.2183C>T | COSMIC |
1 | g.160135261A>C | CA343248699 | ATP1A2 | c.2081A>C (p.Gln694Pro) c.1213A>C n.2184A>C | |
1 | g.160135261A>G | CA343248700 | ATP1A2 | c.2081A>G (p.Gln694Arg) c.1213A>G n.2184A>G | |
1 | g.160135261A>T | CA343248701 | ATP1A2 | c.2081A>T (p.Gln694Leu) c.1213A>T n.2184A>T | |
1 | g.160135262G>A | CA421600437 | ATP1A2 | c.2082G>A (p.Gln694=) c.1214G>A n.2185G>A | |
1 | g.160135262G>C | CA343248702 | ATP1A2 | c.2082G>C (p.Gln694His) c.1214G>C n.2185G>C | |
1 | g.160135262G>T | CA343248703 | ATP1A2 | c.2082G>T (p.Gln694His) c.1214G>T n.2185G>T | |
1 | g.160135263A>C | CA343248706 | ATP1A2 | c.2083A>C (p.Lys695Gln) c.1215A>C n.2186A>C | |
1 | g.160135263A>G | CA343248704 | ATP1A2 | c.2083A>G (p.Lys695Glu) c.1215A>G n.2186A>G | |
1 | g.160135263A>T | CA343248705 | ATP1A2 | c.2083A>T (p.Lys695Ter) c.1215A>T n.2186A>T | |
1 | g.160135264A>C | CA343248707 | ATP1A2 | c.2084A>C (p.Lys695Thr) c.1216A>C n.2187A>C | |
1 | g.160135264A>G | CA343248708 | ATP1A2 | c.2084A>G (p.Lys695Arg) c.1216A>G n.2187A>G | |
1 | g.160135264A>T | CA343248709 | ATP1A2 | c.2084A>T (p.Lys695Met) c.1216A>T n.2187A>T | |
1 | g.160135265G>A | CA421600439 | ATP1A2 | c.2085G>A (p.Lys695=) c.1217G>A n.2188G>A | |
1 | g.160135265G>C | CA343248710 | ATP1A2 | c.2085G>C (p.Lys695Asn) c.1217G>C n.2188G>C | |
1 | g.160135265G>T | CA343248711 | ATP1A2 | c.2085G>T (p.Lys695Asn) c.1217G>T n.2188G>T | |
1 | g.160135266C>A | CA343248712 | ATP1A2 | c.2086C>A (p.Leu696Ile) c.1218C>A n.2189C>A | |
1 | g.160135266C>G | CA343248713 | ATP1A2 | c.2086C>G (p.Leu696Val) c.1218C>G n.2189C>G | |
1 | g.160135266C>T | CA343248714 | ATP1A2 | c.2086C>T (p.Leu696Phe) c.1218C>T n.2189C>T | |
1 | g.160135267T>A | CA343248715 | ATP1A2 | c.2087T>A (p.Leu696His) c.1219T>A n.2190T>A | |
1 | g.160135267T>C | CA343248716 | ATP1A2 | c.2087T>C (p.Leu696Pro) c.1219T>C n.2190T>C | |
1 | g.160135267T>G | CA343248717 | ATP1A2 | c.2087T>G (p.Leu696Arg) c.1219T>G n.2190T>G | |
1 | g.160135268C>A | CA421600441 | ATP1A2 | c.2088C>A (p.Leu696=) c.1220C>A n.2191C>A | |
1 | g.160135268C= | CA1142403181 | ATP1A2 | c.2088C= (p.Leu696=) c.1220C= n.2191C= | |
1 | g.160135268C>G | CA421600440 | ATP1A2 | c.2088C>G (p.Leu696=) c.1220C>G n.2191C>G | |
1 | g.160135268C>T | CA1194653 | ATP1A2 | c.2088C>T (p.Leu696=) c.1220C>T n.2191C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135269A>C | CA343248718 | ATP1A2 | c.2089A>C (p.Ile697Leu) c.1221A>C n.2192A>C | gnomAD v3 gnomAD v4 |
1 | g.160135269A>G | CA343248720 | ATP1A2 | c.2089A>G (p.Ile697Val) c.1221A>G n.2192A>G | |
1 | g.160135269A>T | CA343248719 | ATP1A2 | c.2089A>T (p.Ile697Phe) c.1221A>T n.2192A>T | |
1 | g.160135270T>A | CA343248721 | ATP1A2 | c.2090T>A (p.Ile697Asn) c.1222T>A n.2193T>A | |
1 | g.160135270T>C | CA343248722 | ATP1A2 | c.2090T>C (p.Ile697Thr) c.1222T>C n.2193T>C | |
1 | g.160135270T>G | CA343248723 | ATP1A2 | c.2090T>G (p.Ile697Ser) c.1222T>G n.2193T>G | |
1 | g.160135271C>A | CA421600445 | ATP1A2 | c.2091C>A (p.Ile697=) c.1223C>A n.2194C>A | gnomAD v4 |
1 | g.160135271C>G | CA343248724 | ATP1A2 | c.2091C>G (p.Ile697Met) c.1223C>G n.2194C>G | |
1 | g.160135271C>T | CA421600443 | ATP1A2 | c.2091C>T (p.Ile697=) c.1223C>T n.2194C>T | |
1 | g.160135272A= | CA1202195058 | ATP1A2 | c.2092A= (p.Ile698=) c.1224A= n.2195A= | |
1 | g.160135272A>C | CA343248725 | ATP1A2 | c.2092A>C (p.Ile698Leu) c.1224A>C n.2195A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135272A>G | CA343248726 | ATP1A2 | c.2092A>G (p.Ile698Val) c.1224A>G n.2195A>G | COSMIC |
1 | g.160135272A>T | CA343248727 | ATP1A2 | c.2092A>T (p.Ile698Phe) c.1224A>T n.2195A>T | |
1 | g.160135273T>A | CA343248728 | ATP1A2 | c.2093T>A (p.Ile698Asn) c.1225T>A n.2196T>A | |
1 | g.160135273T>C | CA343248729 | ATP1A2 | c.2093T>C (p.Ile698Thr) c.1225T>C n.2196T>C | ClinVar dbSNP |
1 | g.160135273T>G | CA343248730 | ATP1A2 | c.2093T>G (p.Ile698Ser) c.1225T>G n.2196T>G | |
1 | g.160135273T= | CA1202195059 | ATP1A2 | c.2093T= (p.Ile698=) c.1225T= n.2196T= | |
1 | g.160135274T>A | CA421600446 | ATP1A2 | c.2094T>A (p.Ile698=) c.1226T>A n.2197T>A | |
1 | g.160135274T>C | CA421600448 | ATP1A2 | c.2094T>C (p.Ile698=) c.1226T>C n.2197T>C | dbSNP gnomAD v4 |
1 | g.160135274T>G | CA343248732 | ATP1A2 | c.2094T>G (p.Ile698Met) c.1226T>G n.2197T>G | |
1 | g.160135274T= | CA1202195060 | ATP1A2 | c.2094T= (p.Ile698=) c.1226T= n.2197T= | |
1 | g.160135275G>A | CA343248737 | ATP1A2 | c.2095G>A (p.Val699Met) c.1227G>A n.2198G>A | |
1 | g.160135275G>C | CA343248736 | ATP1A2 | c.2095G>C (p.Val699Leu) c.1227G>C n.2198G>C | |
1 | g.160135275G>T | CA343248734 | ATP1A2 | c.2095G>T (p.Val699Leu) c.1227G>T n.2198G>T | |
1 | g.160135276T>A | CA343248739 | ATP1A2 | c.2096T>A (p.Val699Glu) c.1228T>A n.2199T>A | |
1 | g.160135276T>C | CA343248741 | ATP1A2 | c.2096T>C (p.Val699Ala) c.1228T>C n.2199T>C | |
1 | g.160135276T>G | CA343248742 | ATP1A2 | c.2096T>G (p.Val699Gly) c.1228T>G n.2199T>G | |
1 | g.160135277G>A | CA1194654 | ATP1A2 | c.2097G>A (p.Val699=) c.1229G>A n.2200G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135277G>C | CA421600449 | ATP1A2 | c.2097G>C (p.Val699=) c.1229G>C n.2200G>C | |
1 | g.160135277G= | CA1148290632 | ATP1A2 | c.2097G= (p.Val699=) c.1229G= n.2200G= | |
1 | g.160135277G>T | CA421600450 | ATP1A2 | c.2097G>T (p.Val699=) c.1229G>T n.2200G>T | |
1 | g.160135278G>A | CA343248744 | ATP1A2 | c.2098G>A (p.Glu700Lys) c.1230G>A n.2201G>A | |
1 | g.160135278G>C | CA343248746 | ATP1A2 | c.2098G>C (p.Glu700Gln) c.1230G>C n.2201G>C | |
1 | g.160135278G>T | CA343248747 | ATP1A2 | c.2098G>T (p.Glu700Ter) c.1230G>T n.2201G>T | |
1 | g.160135279A>C | CA343248748 | ATP1A2 | c.2099A>C (p.Glu700Ala) c.1231A>C n.2202A>C | |
1 | g.160135279A>G | CA343248750 | ATP1A2 | c.2099A>G (p.Glu700Gly) c.1231A>G n.2202A>G | |
1 | g.160135279A>T | CA343248751 | ATP1A2 | c.2099A>T (p.Glu700Val) c.1231A>T n.2202A>T | |
1 | g.160135279_160135280delinsAG | CA1202195061 | ATP1A2 | c.2099_2100delinsAG (p.Glu700=) c.1231_1232delinsAG n.2202_2203delinsAG | |
1 | g.160135280G>A | CA421600453 | ATP1A2 | c.2100G>A (p.Glu700=) c.1232G>A n.2203G>A | |
1 | g.160135280G>C | CA343248753 | ATP1A2 | c.2100G>C (p.Glu700Asp) c.1232G>C n.2203G>C | |
1 | g.160135280G>T | CA343248754 | ATP1A2 | c.2100G>T (p.Glu700Asp) c.1232G>T n.2203G>T | |
1 | g.160135282del | CA16617011 | ATP1A2 | c.2102del (p.Gly701AspfsTer11) c.1234del n.2205del | ClinVar dbSNP gnomAD v4 |
1 | g.160135281G>A | CA343248757 | ATP1A2 | c.2101G>A (p.Gly701Arg) c.1233G>A n.2204G>A | ClinVar |
1 | g.160135281G>C | CA343248758 | ATP1A2 | c.2101G>C (p.Gly701Arg) c.1233G>C n.2204G>C | |
1 | g.160135281G>T | CA343248756 | ATP1A2 | c.2101G>T (p.Gly701Ter) c.1233G>T n.2204G>T | |
1 | g.160135282G>A | CA343248764 | ATP1A2 | c.2102G>A (p.Gly701Glu) c.1234G>A n.2205G>A | COSMIC |
1 | g.160135282G>C | CA343248760 | ATP1A2 | c.2102G>C (p.Gly701Ala) c.1234G>C n.2205G>C | |
1 | g.160135282G>T | CA343248762 | ATP1A2 | c.2102G>T (p.Gly701Val) c.1234G>T n.2205G>T | |
1 | g.160135283A= | CA1202195062 | ATP1A2 | c.2103A= (p.Gly701=) c.1235A= n.2206A= | |
1 | g.160135283A>C | CA31501015 | ATP1A2 | c.2103A>C (p.Gly701=) c.1235A>C n.2206A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135283A>G | CA421600457 | ATP1A2 | c.2103A>G (p.Gly701=) c.1235A>G n.2206A>G | |
1 | g.160135283A>T | CA31501016 | ATP1A2 | c.2103A>T (p.Gly701=) c.1235A>T n.2206A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135283_160135285delinsATG | CA1202195063 | ATP1A2 | c.2103_2105delinsATG (p.Gly701=) c.1235_1237delinsATG n.2206_2208delinsATG | |
1 | g.160135284T>A | CA343248765 | ATP1A2 | c.2104T>A (p.Cys702Ser) c.1236T>A n.2207T>A | ClinVar dbSNP |
1 | g.160135284T>C | CA343248766 | ATP1A2 | c.2104T>C (p.Cys702Arg) c.1236T>C n.2207T>C | |
1 | g.160135284T>G | CA343248768 | ATP1A2 | c.2104T>G (p.Cys702Gly) c.1236T>G n.2207T>G | |
1 | g.160135284T= | CA1202195064 | ATP1A2 | c.2104T= (p.Cys702=) c.1236T= n.2207T= | |
1 | g.160135285_160135286del | CA913189844 | ATP1A2 | c.2105_2106del (p.Cys702SerfsTer12) c.1237_1238del n.2208_2209del | ClinVar dbSNP |
1 | g.160135285G>A | CA1194655 | ATP1A2 | c.2105G>A (p.Cys702Tyr) c.1237G>A n.2208G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135285G>C | CA343248771 | ATP1A2 | c.2105G>C (p.Cys702Ser) c.1237G>C n.2208G>C | |
1 | g.160135285G= | CA1202195065 | ATP1A2 | c.2105G= (p.Cys702=) c.1237G= n.2208G= | |
1 | g.160135285G>T | CA343248772 | ATP1A2 | c.2105G>T (p.Cys702Phe) c.1237G>T n.2208G>T | COSMIC |
1 | g.160135286T>A | CA343248773 | ATP1A2 | c.2106T>A (p.Cys702Ter) c.1238T>A n.2209T>A | |
1 | g.160135286T>C | CA421600460 | ATP1A2 | c.2106T>C (p.Cys702=) c.1238T>C n.2209T>C | |
1 | g.160135286T>G | CA343248774 | ATP1A2 | c.2106T>G (p.Cys702Trp) c.1238T>G n.2209T>G | |
1 | g.160135287C>A | CA343248776 | ATP1A2 | c.2107C>A (p.Gln703Lys) c.1239C>A n.2210C>A | |
1 | g.160135287C= | CA1202195066 | ATP1A2 | c.2107C= (p.Gln703=) c.1239C= n.2210C= | |
1 | g.160135287C>G | CA343248777 | ATP1A2 | c.2107C>G (p.Gln703Glu) c.1239C>G n.2210C>G | ClinVar dbSNP |
1 | g.160135287C>T | CA343248780 | ATP1A2 | c.2107C>T (p.Gln703Ter) c.1239C>T n.2210C>T | |
1 | g.160135288A>C | CA343248784 | ATP1A2 | c.2108A>C (p.Gln703Pro) c.1240A>C n.2211A>C | |
1 | g.160135288A>G | CA343248781 | ATP1A2 | c.2108A>G (p.Gln703Arg) c.1240A>G n.2211A>G | |
1 | g.160135288A>T | CA343248783 | ATP1A2 | c.2108A>T (p.Gln703Leu) c.1240A>T n.2211A>T | |
1 | g.160135289G>A | CA421600461 | ATP1A2 | c.2109G>A (p.Gln703=) c.1241G>A n.2212G>A | |
1 | g.160135289G>C | CA343248785 | ATP1A2 | c.2109G>C (p.Gln703His) c.1241G>C n.2212G>C | |
1 | g.160135289G>T | CA343248787 | ATP1A2 | c.2109G>T (p.Gln703His) c.1241G>T n.2212G>T | |
1 | g.160135289_160135290delinsGA | CA1202195067 | ATP1A2 | c.2109_2110delinsGA (p.Gln703=) c.1241_1242delinsGA n.2212_2213delinsGA | |
1 | g.160135290del | CA890099089 | ATP1A2 | c.2110del (p.Arg704GlyfsTer8) c.1242del n.2213del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135290A>C | CA421600462 | ATP1A2 | c.2110A>C (p.Arg704=) c.1242A>C n.2213A>C | |
1 | g.160135290A>G | CA343248789 | ATP1A2 | c.2110A>G (p.Arg704Gly) c.1242A>G n.2213A>G | |
1 | g.160135290A>T | CA343248791 | ATP1A2 | c.2110A>T (p.Arg704Trp) c.1242A>T n.2213A>T | |
1 | g.160135291G>A | CA343248793 | ATP1A2 | c.2111G>A (p.Arg704Lys) c.1243G>A n.2214G>A | ClinVar dbSNP gnomAD v4 |
1 | g.160135291G>C | CA343248795 | ATP1A2 | c.2111G>C (p.Arg704Thr) c.1243G>C n.2214G>C | |
1 | g.160135291G>T | CA343248797 | ATP1A2 | c.2111G>T (p.Arg704Met) c.1243G>T n.2214G>T | |
1 | g.160135292G>A | CA421600465 | ATP1A2 | c.2112G>A (p.Arg704=) c.1244G>A n.2215G>A | |
1 | g.160135292G>C | CA343248798 | ATP1A2 | c.2112G>C (p.Arg704Ser) c.1244G>C n.2215G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135292G= | CA1202195068 | ATP1A2 | c.2112G= (p.Arg704=) c.1244G= n.2215G= | |
1 | g.160135292G>T | CA343248799 | ATP1A2 | c.2112G>T (p.Arg704Ser) c.1244G>T n.2215G>T | |
1 | g.160135293C>A | CA343248801 | ATP1A2 | c.2113C>A (p.Gln705Lys) c.1245C>A n.2216C>A | |
1 | g.160135293C>G | CA343248803 | ATP1A2 | c.2113C>G (p.Gln705Glu) c.1245C>G n.2216C>G | |
1 | g.160135293C>T | CA343248804 | ATP1A2 | c.2113C>T (p.Gln705Ter) c.1245C>T n.2216C>T | |
1 | g.160135294A>C | CA343248808 | ATP1A2 | c.2114A>C (p.Gln705Pro) c.1246A>C n.2217A>C | |
1 | g.160135294A>G | CA343248807 | ATP1A2 | c.2114A>G (p.Gln705Arg) c.1246A>G n.2217A>G | |
1 | g.160135294A>T | CA343248806 | ATP1A2 | c.2114A>T (p.Gln705Leu) c.1246A>T n.2217A>T | |
1 | g.160135295G>A | CA421600467 | ATP1A2 | c.2115G>A (p.Gln705=) c.1247G>A n.2218G>A | |
1 | g.160135295G>C | CA343248809 | ATP1A2 | c.2115G>C (p.Gln705His) c.1247G>C n.2218G>C | |
1 | g.160135295G>T | CA343248810 | ATP1A2 | c.2115G>T (p.Gln705His) c.1247G>T n.2218G>T | COSMIC |
1 | g.160135296G>A | CA343248812 | ATP1A2 | c.2115+1G>A (n.2115+1G>A) c.1247+1G>A n.2218+1G>A | COSMIC |
1 | g.160135296G>C | CA343248813 | ATP1A2 | c.2115+1G>C (n.2115+1G>C) c.1247+1G>C n.2218+1G>C | |
1 | g.160135296G>T | CA343248814 | ATP1A2 | c.2115+1G>T (n.2115+1G>T) c.1247+1G>T n.2218+1G>T | gnomAD v4 |
1 | g.160135297T>A | CA343248816 | ATP1A2 | c.2115+2T>A (n.2115+2T>A) c.1247+2T>A n.2218+2T>A | |
1 | g.160135297T>C | CA343248818 | ATP1A2 | c.2115+2T>C (n.2115+2T>C) c.1247+2T>C n.2218+2T>C | |
1 | g.160135297T>G | CA1194656 | ATP1A2 | c.2115+2T>G (n.2115+2T>G) c.1247+2T>G n.2218+2T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135297T= | CA1202195069 | ATP1A2 | c.2115+2T= (n.2115+2T=) c.1247+2T= n.2218+2T= | |
1 | g.160135298G>A | CA890099103 | ATP1A2 | c.2115+3G>A (n.2115+3G>A) c.1247+3G>A n.2218+3G>A | dbSNP |
1 | g.160135298G= | CA1202195070 | ATP1A2 | c.2115+3G= (n.2115+3G=) c.1247+3G= n.2218+3G= | |
1 | g.160135299A= | CA1148467945 | ATP1A2 | c.2115+4A= (n.2115+4A=) c.1247+4A= n.2218+4A= | |
1 | g.160135299A>C | CA2574131062 | ATP1A2 | c.2115+4A>C (n.2115+4A>C) c.1247+4A>C n.2218+4A>C | |
1 | g.160135299A>G | CA1194657 | ATP1A2 | c.2115+4A>G (n.2115+4A>G) c.1247+4A>G n.2218+4A>G | dbSNP ExAC gnomAD v2 |
1 | g.160135300G>A | CA2648642717 | ATP1A2 | c.2115+5G>A (n.2115+5G>A) c.1247+5G>A n.2218+5G>A | gnomAD v4 |
1 | g.160135301C>G | CA2739275363 | ATP1A2 | c.2115+6C>G (n.2115+6C>G) c.1247+6C>G n.2218+6C>G | ClinVar |
1 | g.160135303C= | CA1202195071 | ATP1A2 | c.2115+8C= (n.2115+8C=) c.1247+8C= n.2218+8C= | |
1 | g.160135303C>T | CA1194658 | ATP1A2 | c.2115+8C>T (n.2115+8C>T) c.1247+8C>T n.2218+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135305G>A | CA2556145988 | ATP1A2 | c.2115+10G>A (n.2115+10G>A) c.1247+10G>A n.2218+10G>A | |
1 | g.160135306C>A | CA2648642723 | ATP1A2 | c.2115+11C>A (n.2115+11C>A) c.1247+11C>A n.2218+11C>A | gnomAD v4 |
1 | g.160135306C= | CA1202195072 | ATP1A2 | c.2115+11C= (n.2115+11C=) c.1247+11C= n.2218+11C= | |
1 | g.160135306C>T | CA1194659 | ATP1A2 | c.2115+11C>T (n.2115+11C>T) c.1247+11C>T n.2218+11C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135309C>A | CA526678361 | ATP1A2 | c.2115+14C>A (n.2115+14C>A) c.1247+14C>A n.2218+14C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135309C= | CA1143444673 | ATP1A2 | c.2115+14C= (n.2115+14C=) c.1247+14C= n.2218+14C= | |
1 | g.160135309C>T | CA289583 | ATP1A2 | c.2115+14C>T (n.2115+14C>T) c.1247+14C>T n.2218+14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135310G>A | CA1194660 | ATP1A2 | c.2115+15G>A (n.2115+15G>A) c.1247+15G>A n.2218+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135310G= | CA1202195073 | ATP1A2 | c.2115+15G= (n.2115+15G=) c.1247+15G= n.2218+15G= | |
1 | g.160135311G= | CA1202195074 | ATP1A2 | c.2115+16G= (n.2115+16G=) c.1247+16G= n.2218+16G= | |
1 | g.160135311G>T | CA526678364 | ATP1A2 | c.2115+16G>T (n.2115+16G>T) c.1247+16G>T n.2218+16G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135312G>C | CA2574131063 | ATP1A2 | c.2115+17G>C (n.2115+17G>C) c.1247+17G>C n.2218+17G>C | |
1 | g.160135314G>A | CA1194661 | ATP1A2 | c.2115+19G>A (n.2115+19G>A) c.1247+19G>A n.2218+19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135314G= | CA1144074018 | ATP1A2 | c.2115+19G= (n.2115+19G=) c.1247+19G= n.2218+19G= | |
1 | g.160135315G>A | CA1202195075 | ATP1A2 | c.2115+20G>A (n.2115+20G>A) c.1247+20G>A n.2218+20G>A | dbSNP |
1 | g.160135315G= | CA1202195076 | ATP1A2 | c.2115+20G= (n.2115+20G=) c.1247+20G= n.2218+20G= | |
1 | g.160135320T>A | CA2574131064 | ATP1A2 | c.2115+25T>A (n.2115+25T>A) c.1247+25T>A n.2218+25T>A | |
1 | g.160135320T>C | CA2648642729 | ATP1A2 | c.2115+25T>C (n.2115+25T>C) c.1247+25T>C n.2218+25T>C | gnomAD v4 |
1 | g.160135323C= | CA1202195077 | ATP1A2 | c.2115+28C= (n.2115+28C=) c.1247+28C= n.2218+28C= | |
1 | g.160135323C>T | CA31501039 | ATP1A2 | c.2115+28C>T (n.2115+28C>T) c.1247+28C>T n.2218+28C>T | dbSNP gnomAD v4 |
1 | g.160135323_160135338delinsCAGGCAGGGACCGGGG | CA1202195078 | ATP1A2 | c.2115+28_2115+43delinsCAGGCAGGGACCGGGG (n.2115+28_2115+43delinsCAGGCAGGGACCGGGG) c.1247+28_1247+43delinsCAGGCAGGGACCGGGG n.2218+28_2218+43delinsCAGGCAGGGACCGGGG | |
1 | g.160135324A= | CA1202195080 | ATP1A2 | c.2115+29A= (n.2115+29A=) c.1247+29A= n.2218+29A= | |
1 | g.160135324A>G | CA526678367 | ATP1A2 | c.2115+29A>G (n.2115+29A>G) c.1247+29A>G n.2218+29A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135324_160135344dup | CA526678366 | ATP1A2 | c.2115+29_2115+49dup (n.2115+29_2115+49dup) c.1247+29_1247+49dup n.2218+29_2218+49dup | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135334_160135348del | CA1202195079 | ATP1A2 | c.2115+39_2115+53del (n.2115+39_2115+53del) c.1247+39_1247+53del n.2218+39_2218+53del | dbSNP |
1 | g.160135326G>T | CA2648642730 | ATP1A2 | c.2115+31G>T (n.2115+31G>T) c.1247+31G>T n.2218+31G>T | gnomAD v4 |
1 | g.160135329_160135332dup | CA2648642731 | ATP1A2 | c.2115+34_2115+37dup (n.2115+34_2115+37dup) c.1247+34_1247+37dup n.2218+34_2218+37dup | gnomAD v4 |
1 | g.160135331G>A | CA890099113 | ATP1A2 | c.2115+36G>A (n.2115+36G>A) c.1247+36G>A n.2218+36G>A | dbSNP gnomAD v4 |
1 | g.160135331G= | CA1202195081 | ATP1A2 | c.2115+36G= (n.2115+36G=) c.1247+36G= n.2218+36G= | |
1 | g.160135332A= | CA1202195082 | ATP1A2 | c.2115+37A= (n.2115+37A=) c.1247+37A= n.2218+37A= | |
1 | g.160135332A>T | CA1008330837 | ATP1A2 | c.2115+37A>T (n.2115+37A>T) c.1247+37A>T n.2218+37A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135333C>A | CA1194662 | ATP1A2 | c.2115+38C>A (n.2115+38C>A) c.1247+38C>A n.2218+38C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135333C= | CA1202195083 | ATP1A2 | c.2115+38C= (n.2115+38C=) c.1247+38C= n.2218+38C= | |
1 | g.160135333C>G | CA526678368 | ATP1A2 | c.2115+38C>G (n.2115+38C>G) c.1247+38C>G n.2218+38C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135334C>A | CA1194665 | ATP1A2 | c.2115+39C>A (n.2115+39C>A) c.1247+39C>A n.2218+39C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160135334C= | CA1202195084 | ATP1A2 | c.2115+39C= (n.2115+39C=) c.1247+39C= n.2218+39C= | |
1 | g.160135334C>G | CA1194663 | ATP1A2 | c.2115+39C>G (n.2115+39C>G) c.1247+39C>G n.2218+39C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135334C>T | CA1194664 | ATP1A2 | c.2115+39C>T (n.2115+39C>T) c.1247+39C>T n.2218+39C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.160135335G>A | CA31501052 | ATP1A2 | c.2115+40G>A (n.2115+40G>A) c.1247+40G>A n.2218+40G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135335G= | CA1144042178 | ATP1A2 | c.2115+40G= (n.2115+40G=) c.1247+40G= n.2218+40G= | |
1 | g.160135338dup | CA2574131065 | ATP1A2 | c.2115+43dup (n.2115+43dup) c.1247+43dup n.2218+43dup | |
1 | g.160135336G>A | CA1202195086 | ATP1A2 | c.2115+41G>A (n.2115+41G>A) c.1247+41G>A n.2218+41G>A | dbSNP gnomAD v4 |
1 | g.160135336G= | CA1202195085 | ATP1A2 | c.2115+41G= (n.2115+41G=) c.1247+41G= n.2218+41G= | |
1 | g.160135337G>A | CA2648642736 | ATP1A2 | c.2115+42G>A (n.2115+42G>A) c.1247+42G>A n.2218+42G>A | gnomAD v4 |
1 | g.160135337G>C | CA2648642737 | ATP1A2 | c.2115+42G>C (n.2115+42G>C) c.1247+42G>C n.2218+42G>C | gnomAD v4 |
1 | g.160135338G>A | CA2648642738 | ATP1A2 | c.2115+43G>A (n.2115+43G>A) c.1247+43G>A n.2218+43G>A | gnomAD v4 |
1 | g.160135338G>C | CA1202195088 | ATP1A2 | c.2115+43G>C (n.2115+43G>C) c.1247+43G>C n.2218+43G>C | dbSNP |
1 | g.160135338G= | CA1202195087 | ATP1A2 | c.2115+43G= (n.2115+43G=) c.1247+43G= n.2218+43G= | |
1 | g.160135340G>A | CA1202195090 | ATP1A2 | c.2115+45G>A (n.2115+45G>A) c.1247+45G>A n.2218+45G>A | dbSNP |
1 | g.160135340G= | CA1202195089 | ATP1A2 | c.2115+45G= (n.2115+45G=) c.1247+45G= n.2218+45G= | |
1 | g.160135341G>A | CA2648642739 | ATP1A2 | c.2115+46G>A (n.2115+46G>A) c.1247+46G>A n.2218+46G>A | gnomAD v4 |
1 | g.160135341G= | CA1202195091 | ATP1A2 | c.2115+46G= (n.2115+46G=) c.1247+46G= n.2218+46G= | |
1 | g.160135341G>T | CA1194666 | ATP1A2 | c.2115+46G>T (n.2115+46G>T) c.1247+46G>T n.2218+46G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135344G>A | CA526678369 | ATP1A2 | c.2115+49G>A (n.2115+49G>A) c.1247+49G>A n.2218+49G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160135344G= | CA1202195092 | ATP1A2 | c.2115+49G= (n.2115+49G=) c.1247+49G= n.2218+49G= | |
1 | g.160135345G>A | CA890099131 | ATP1A2 | c.2115+50G>A (n.2115+50G>A) c.1247+50G>A n.2218+50G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160135345G= | CA1202195093 | ATP1A2 | c.2115+50G= (n.2115+50G=) c.1247+50G= n.2218+50G= | |
1 | g.160135346G>A | CA1202195095 | ATP1A2 | c.2115+51G>A (n.2115+51G>A) c.1247+51G>A n.2218+51G>A | dbSNP |
1 | g.160135346G= | CA1202195094 | ATP1A2 | c.2115+51G= (n.2115+51G=) c.1247+51G= n.2218+51G= |