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= |