Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160135845T>A | CA343249894 | ATP1A2 | c.2291T>A (p.Leu764Gln) c.1423T>A n.2394T>A | |
1 | g.160135845T>C | CA256627 | ATP1A2 | c.2291T>C (p.Leu764Pro) c.1423T>C n.2394T>C | ClinVar dbSNP |
1 | g.160135845T>G | CA343249898 | ATP1A2 | c.2291T>G (p.Leu764Arg) c.1423T>G n.2394T>G | |
1 | g.160135845T= | CA1140495934 | ATP1A2 | c.2291T= (p.Leu764=) c.1423T= n.2394T= | |
1 | g.160135846G>A | CA421351642 | ATP1A2 | c.2292G>A (p.Leu764=) c.1424G>A n.2395G>A | gnomAD v4 |
1 | g.160135846G>C | CA1194723 | ATP1A2 | c.2292G>C (p.Leu764=) c.1424G>C n.2395G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160135846G= | CA1202195290 | ATP1A2 | c.2292G= (p.Leu764=) c.1424G= n.2395G= | |
1 | g.160135846G>T | CA421351644 | ATP1A2 | c.2292G>T (p.Leu764=) c.1424G>T n.2395G>T | |
1 | g.160135847A>C | CA343249904 | ATP1A2 | c.2293A>C (p.Ile765Leu) c.1425A>C n.2396A>C | |
1 | g.160135847A>G | CA343249907 | ATP1A2 | c.2293A>G (p.Ile765Val) c.1425A>G n.2396A>G | |
1 | g.160135847A>T | CA343249910 | ATP1A2 | c.2293A>T (p.Ile765Phe) c.1425A>T n.2396A>T | |
1 | g.160135848T>A | CA343249914 | ATP1A2 | c.2294T>A (p.Ile765Asn) c.1426T>A n.2397T>A | |
1 | g.160135848T>C | CA343249922 | ATP1A2 | c.2294T>C (p.Ile765Thr) c.1426T>C n.2397T>C | |
1 | g.160135848T>G | CA343249925 | ATP1A2 | c.2294T>G (p.Ile765Ser) c.1426T>G n.2397T>G | |
1 | g.160135849C>A | CA421351646 | ATP1A2 | c.2295C>A (p.Ile765=) c.1427C>A n.2398C>A | ClinVar |
1 | g.160135849C>G | CA343249927 | ATP1A2 | c.2295C>G (p.Ile765Met) c.1427C>G n.2398C>G | |
1 | g.160135849C>T | CA421351648 | ATP1A2 | c.2295C>T (p.Ile765=) c.1427C>T n.2398C>T | |
1 | g.160135850T>A | CA343249939 | ATP1A2 | c.2296T>A (p.Phe766Ile) c.1428T>A n.2399T>A | |
1 | g.160135850T>C | CA343249934 | ATP1A2 | c.2296T>C (p.Phe766Leu) c.1428T>C n.2399T>C | |
1 | g.160135850T>G | CA343249936 | ATP1A2 | c.2296T>G (p.Phe766Val) c.1428T>G n.2399T>G | |
1 | g.160135851T>A | CA343249942 | ATP1A2 | c.2297T>A (p.Phe766Tyr) c.1429T>A n.2400T>A | |
1 | g.160135851T>C | CA343249948 | ATP1A2 | c.2297T>C (p.Phe766Ser) c.1429T>C n.2400T>C | |
1 | g.160135851T>G | CA343249951 | ATP1A2 | c.2297T>G (p.Phe766Cys) c.1429T>G n.2400T>G | |
1 | g.160135852T>A | CA343249965 | ATP1A2 | c.2298T>A (p.Phe766Leu) c.1430T>A n.2401T>A | dbSNP |
1 | g.160135852T>C | CA421351653 | ATP1A2 | c.2298T>C (p.Phe766=) c.1430T>C n.2401T>C | gnomAD v4 |
1 | g.160135852T>G | CA343249969 | ATP1A2 | c.2298T>G (p.Phe766Leu) c.1430T>G n.2401T>G | ClinVar dbSNP |
1 | g.160135853G>A | CA343249974 | ATP1A2 | c.2299G>A (p.Asp767Asn) c.1431G>A n.2402G>A | |
1 | g.160135853G>C | CA343249977 | ATP1A2 | c.2299G>C (p.Asp767His) c.1431G>C n.2402G>C | |
1 | g.160135853G>T | CA343249980 | ATP1A2 | c.2299G>T (p.Asp767Tyr) c.1431G>T n.2402G>T | |
1 | g.160135854A>C | CA343249982 | ATP1A2 | c.2300A>C (p.Asp767Ala) c.1432A>C n.2403A>C | |
1 | g.160135854A>G | CA343249983 | ATP1A2 | c.2300A>G (p.Asp767Gly) c.1432A>G n.2403A>G | |
1 | g.160135854A>T | CA343249986 | ATP1A2 | c.2300A>T (p.Asp767Val) c.1432A>T n.2403A>T | |
1 | g.160135855C>A | CA343249993 | ATP1A2 | c.2301C>A (p.Asp767Glu) c.1433C>A n.2404C>A | ClinVar dbSNP |
1 | g.160135855C>G | CA343249989 | ATP1A2 | c.2301C>G (p.Asp767Glu) c.1433C>G n.2404C>G | |
1 | g.160135855C>T | CA421351659 | ATP1A2 | c.2301C>T (p.Asp767=) c.1433C>T n.2404C>T | |
1 | g.160135856A>C | CA343249994 | ATP1A2 | c.2302A>C (p.Asn768His) c.1434A>C n.2405A>C | |
1 | g.160135856A>G | CA343249995 | ATP1A2 | c.2302A>G (p.Asn768Asp) c.1434A>G n.2405A>G | |
1 | g.160135856A>T | CA343249996 | ATP1A2 | c.2302A>T (p.Asn768Tyr) c.1434A>T n.2405A>T | |
1 | g.160135857A>C | CA343249997 | ATP1A2 | c.2303A>C (p.Asn768Thr) c.1435A>C n.2406A>C | |
1 | g.160135857A>G | CA343250000 | ATP1A2 | c.2303A>G (p.Asn768Ser) c.1435A>G n.2406A>G | |
1 | g.160135857A>T | CA343250001 | ATP1A2 | c.2303A>T (p.Asn768Ile) c.1435A>T n.2406A>T | |
1 | g.160135858C>A | CA343250004 | ATP1A2 | c.2304C>A (p.Asn768Lys) c.1436C>A n.2407C>A | |
1 | g.160135858C= | CA1202195291 | ATP1A2 | c.2304C= (p.Asn768=) c.1436C= n.2407C= | |
1 | g.160135858C>G | CA343250005 | ATP1A2 | c.2304C>G (p.Asn768Lys) c.1436C>G n.2407C>G | |
1 | g.160135858C>T | CA421351664 | ATP1A2 | c.2304C>T (p.Asn768=) c.1436C>T n.2407C>T | dbSNP |
1 | g.160135859T>A | CA343250008 | ATP1A2 | c.2305T>A (p.Leu769Met) c.1437T>A n.2408T>A | |
1 | g.160135859T>C | CA421351667 | ATP1A2 | c.2305T>C (p.Leu769=) c.1437T>C n.2408T>C | |
1 | g.160135859T>G | CA343250011 | ATP1A2 | c.2305T>G (p.Leu769Val) c.1437T>G n.2408T>G | |
1 | g.160135860T>A | CA343250021 | ATP1A2 | c.2306T>A (p.Leu769Ter) c.1438T>A n.2409T>A | |
1 | g.160135860T>C | CA343250024 | ATP1A2 | c.2306T>C (p.Leu769Ser) c.1438T>C n.2409T>C |