UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160135147A= | CA1202195025 | ATP1A2 | c.1967A= (p.Glu656=) c.1099A= n.2070A= | |
| 1 | g.160135147A>C | CA343247555 | ATP1A2 | c.1967A>C (p.Glu656Ala) c.1099A>C n.2070A>C | gnomAD v4 |
| 1 | g.160135147A>G | CA343247551 | ATP1A2 | c.1967A>G (p.Glu656Gly) c.1099A>G n.2070A>G | |
| 1 | g.160135147A>T | CA1194639 | ATP1A2 | c.1967A>T (p.Glu656Val) c.1099A>T n.2070A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160135148_160135157del | CA1008330815 | ATP1A2 | c.1968_1977del (p.Glu656AspfsTer9) c.1100_1109del n.2071_2080del | gnomAD v3 gnomAD v4 |
| 1 | g.160135148A>C | CA343247559 | ATP1A2 | c.1968A>C (p.Glu656Asp) c.1100A>C n.2071A>C | |
| 1 | g.160135148A>G | CA421351397 | ATP1A2 | c.1968A>G (p.Glu656=) c.1100A>G n.2071A>G | |
| 1 | g.160135148A>T | CA343247556 | ATP1A2 | c.1968A>T (p.Glu656Asp) c.1100A>T n.2071A>T | |
| 1 | g.160135149G>A | CA343247567 | ATP1A2 | c.1969G>A (p.Ala657Thr) c.1101G>A n.2072G>A | |
| 1 | g.160135149G>C | CA343247562 | ATP1A2 | c.1969G>C (p.Ala657Pro) c.1101G>C n.2072G>C | |
| 1 | g.160135149G>T | CA343247564 | ATP1A2 | c.1969G>T (p.Ala657Ser) c.1101G>T n.2072G>T | gnomAD v4 |
| 1 | g.160135150C>A | CA343247576 | ATP1A2 | c.1970C>A (p.Ala657Asp) c.1102C>A n.2073C>A | |
| 1 | g.160135150C>G | CA343247579 | ATP1A2 | c.1970C>G (p.Ala657Gly) c.1102C>G n.2073C>G | |
| 1 | g.160135150C>T | CA343247582 | ATP1A2 | c.1970C>T (p.Ala657Val) c.1102C>T n.2073C>T | |
| 1 | g.160135151C>A | CA421351401 | ATP1A2 | c.1971C>A (p.Ala657=) c.1103C>A n.2074C>A | COSMIC |
| 1 | g.160135151C= | CA1202195026 | ATP1A2 | c.1971C= (p.Ala657=) c.1103C= n.2074C= | |
| 1 | g.160135151C>G | CA421351403 | ATP1A2 | c.1971C>G (p.Ala657=) c.1103C>G n.2074C>G | |
| 1 | g.160135151C>T | CA1194640 | ATP1A2 | c.1971C>T (p.Ala657=) c.1103C>T n.2074C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135152A>C | CA343247589 | ATP1A2 | c.1972A>C (p.Lys658Gln) c.1104A>C n.2075A>C | |
| 1 | g.160135152A>G | CA343247591 | ATP1A2 | c.1972A>G (p.Lys658Glu) c.1104A>G n.2075A>G | |
| 1 | g.160135152A>T | CA343247594 | ATP1A2 | c.1972A>T (p.Lys658Ter) c.1104A>T n.2075A>T | |
| 1 | g.160135153A>C | CA343247598 | ATP1A2 | c.1973A>C (p.Lys658Thr) c.1105A>C n.2076A>C | |
| 1 | g.160135153A>G | CA343247600 | ATP1A2 | c.1973A>G (p.Lys658Arg) c.1105A>G n.2076A>G | |
| 1 | g.160135153A>T | CA343247602 | ATP1A2 | c.1973A>T (p.Lys658Met) c.1105A>T n.2076A>T | |
| 1 | g.160135154G>A | CA1194641 | ATP1A2 | c.1974G>A (p.Lys658=) c.1106G>A n.2077G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135154G>C | CA343247605 | ATP1A2 | c.1974G>C (p.Lys658Asn) c.1106G>C n.2077G>C | |
| 1 | g.160135154G= | CA1202195027 | ATP1A2 | c.1974G= (p.Lys658=) c.1106G= n.2077G= | |
| 1 | g.160135154G>T | CA343247609 | ATP1A2 | c.1974G>T (p.Lys658Asn) c.1106G>T n.2077G>T | |
| 1 | g.160135155G>A | CA343247615 | ATP1A2 | c.1975G>A (p.Ala659Thr) c.1107G>A n.2078G>A | |
| 1 | g.160135155G>C | CA343247618 | ATP1A2 | c.1975G>C (p.Ala659Pro) c.1107G>C n.2078G>C | |
| 1 | g.160135155G= | CA1202195028 | ATP1A2 | c.1975G= (p.Ala659=) c.1107G= n.2078G= | |
| 1 | g.160135155G>T | CA343247620 | ATP1A2 | c.1975G>T (p.Ala659Ser) c.1107G>T n.2078G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160135156C>A | CA343247623 | ATP1A2 | c.1976C>A (p.Ala659Glu) c.1108C>A n.2079C>A | |
| 1 | g.160135156C= | CA1202195029 | ATP1A2 | c.1976C= (p.Ala659=) c.1108C= n.2079C= | |
| 1 | g.160135156C>G | CA343247624 | ATP1A2 | c.1976C>G (p.Ala659Gly) c.1108C>G n.2079C>G | |
| 1 | g.160135156C>T | CA1194642 | ATP1A2 | c.1976C>T (p.Ala659Val) c.1108C>T n.2079C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160135157A>C | CA421351411 | ATP1A2 | c.1977A>C (p.Ala659=) c.1109A>C n.2080A>C | |
| 1 | g.160135157A>G | CA421351413 | ATP1A2 | c.1977A>G (p.Ala659=) c.1109A>G n.2080A>G | gnomAD v4 |
| 1 | g.160135157A>T | CA421351416 | ATP1A2 | c.1977A>T (p.Ala659=) c.1109A>T n.2080A>T | |
| 1 | g.160135158T>A | CA343247625 | ATP1A2 | c.1978T>A (p.Cys660Ser) c.1110T>A n.2081T>A | |
| 1 | g.160135158T>C | CA343247626 | ATP1A2 | c.1978T>C (p.Cys660Arg) c.1110T>C n.2081T>C | dbSNP gnomAD v4 |
| 1 | g.160135158T>G | CA343247627 | ATP1A2 | c.1978T>G (p.Cys660Gly) c.1110T>G n.2081T>G | |
| 1 | g.160135158T= | CA1202195030 | ATP1A2 | c.1978T= (p.Cys660=) c.1110T= n.2081T= | |
| 1 | g.160135159del | CA1008330821 | ATP1A2 | c.1979del (p.Cys660SerfsTer8) c.1111del n.2082del | gnomAD v3 gnomAD v4 |
| 1 | g.160135159G>A | CA343247630 | ATP1A2 | c.1979G>A (p.Cys660Tyr) c.1111G>A n.2082G>A | |
| 1 | g.160135159G>C | CA343247632 | ATP1A2 | c.1979G>C (p.Cys660Ser) c.1111G>C n.2082G>C | |
| 1 | g.160135159G>T | CA343247634 | ATP1A2 | c.1979G>T (p.Cys660Phe) c.1111G>T n.2082G>T | gnomAD v4 |
| 1 | g.160135160C>A | CA343247656 | ATP1A2 | c.1980C>A (p.Cys660Ter) c.1112C>A n.2083C>A | gnomAD v4 COSMIC |
| 1 | g.160135160C= | CA1140725151 | ATP1A2 | c.1980C= (p.Cys660=) c.1112C= n.2083C= | |
| 1 | g.160135160C>G | CA343247639 | ATP1A2 | c.1980C>G (p.Cys660Trp) c.1112C>G n.2083C>G | |
| 1 | g.160135160C>T | CA288691 | ATP1A2 | c.1980C>T (p.Cys660=) c.1112C>T n.2083C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135161G>A | CA343247672 | ATP1A2 | c.1981G>A (p.Val661Met) c.1113G>A n.2084G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160135161G>C | CA343247667 | ATP1A2 | c.1981G>C (p.Val661Leu) c.1113G>C n.2084G>C | ClinVar |
| 1 | g.160135161G= | CA1202195031 | ATP1A2 | c.1981G= (p.Val661=) c.1113G= n.2084G= | |
| 1 | g.160135161G>T | CA343247668 | ATP1A2 | c.1981G>T (p.Val661Leu) c.1113G>T n.2084G>T | |
| 1 | g.160135161_160135164del | CA1008330827 | ATP1A2 | c.1981_1984del (p.Val661CysfsTer6) c.1113_1116del n.2084_2087del | gnomAD v3 gnomAD v4 |
| 1 | g.160135162T>A | CA343247676 | ATP1A2 | c.1982T>A (p.Val661Glu) c.1114T>A n.2085T>A | |
| 1 | g.160135162T>C | CA343247679 | ATP1A2 | c.1982T>C (p.Val661Ala) c.1114T>C n.2085T>C | |
| 1 | g.160135162T>G | CA343247685 | ATP1A2 | c.1982T>G (p.Val661Gly) c.1114T>G n.2085T>G | |
| 1 | g.160135163G>A | CA421351434 | ATP1A2 | c.1983G>A (p.Val661=) c.1115G>A n.2086G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160135163G>C | CA421351433 | ATP1A2 | c.1983G>C (p.Val661=) c.1115G>C n.2086G>C | dbSNP |
| 1 | g.160135163G= | CA1202195032 | ATP1A2 | c.1983G= (p.Val661=) c.1115G= n.2086G= | |
| 1 | g.160135163G>T | CA421351432 | ATP1A2 | c.1983G>T (p.Val661=) c.1115G>T n.2086G>T | |
| 1 | g.160135164G>A | CA1194643 | ATP1A2 | c.1984G>A (p.Val662Met) c.1116G>A n.2087G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135164G>C | CA343247691 | ATP1A2 | c.1984G>C (p.Val662Leu) c.1116G>C n.2087G>C | COSMIC |
| 1 | g.160135164G= | CA1141751940 | ATP1A2 | c.1984G= (p.Val662=) c.1116G= n.2087G= | |
| 1 | g.160135164G>T | CA343247688 | ATP1A2 | c.1984G>T (p.Val662Leu) c.1116G>T n.2087G>T | |
| 1 | g.160135165T>A | CA343247695 | ATP1A2 | c.1985T>A (p.Val662Glu) c.1117T>A n.2088T>A | |
| 1 | g.160135165T>C | CA343247696 | ATP1A2 | c.1985T>C (p.Val662Ala) c.1117T>C n.2088T>C | |
| 1 | g.160135165T>G | CA343247697 | ATP1A2 | c.1985T>G (p.Val662Gly) c.1117T>G n.2088T>G | |
| 1 | g.160135166G>A | CA421351441 | ATP1A2 | c.1986G>A (p.Val662=) c.1118G>A n.2089G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160135166G>C | CA421351437 | ATP1A2 | c.1986G>C (p.Val662=) c.1118G>C n.2089G>C | |
| 1 | g.160135166G= | CA1202195033 | ATP1A2 | c.1986G= (p.Val662=) c.1118G= n.2089G= | |
| 1 | g.160135166G>T | CA421351439 | ATP1A2 | c.1986G>T (p.Val662=) c.1118G>T n.2089G>T | gnomAD v4 |
| 1 | g.160135167C>A | CA343247698 | ATP1A2 | c.1987C>A (p.His663Asn) c.1119C>A n.2090C>A | |
| 1 | g.160135167C>G | CA343247699 | ATP1A2 | c.1987C>G (p.His663Asp) c.1119C>G n.2090C>G | |
| 1 | g.160135167C>T | CA343247701 | ATP1A2 | c.1987C>T (p.His663Tyr) c.1119C>T n.2090C>T | |
| 1 | g.160135168A>C | CA343247703 | ATP1A2 | c.1988A>C (p.His663Pro) c.1120A>C n.2091A>C | |
| 1 | g.160135168A>G | CA343247709 | ATP1A2 | c.1988A>G (p.His663Arg) c.1120A>G n.2091A>G | |
| 1 | g.160135168A>T | CA343247706 | ATP1A2 | c.1988A>T (p.His663Leu) c.1120A>T n.2091A>T | |
| 1 | g.160135169C>A | CA343248497 | ATP1A2 | c.1989C>A (p.His663Gln) c.1121C>A n.2092C>A | |
| 1 | g.160135169C= | CA1202195034 | ATP1A2 | c.1989C= (p.His663=) c.1121C= n.2092C= | |
| 1 | g.160135169C>G | CA343248498 | ATP1A2 | c.1989C>G (p.His663Gln) c.1121C>G n.2092C>G | gnomAD v4 |
| 1 | g.160135169C>T | CA1194644 | ATP1A2 | c.1989C>T (p.His663=) c.1121C>T n.2092C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.160135170G>A | CA343248499 | ATP1A2 | c.1990G>A (p.Gly664Ser) c.1122G>A n.2093G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.160135170G>C | CA343248500 | ATP1A2 | c.1990G>C (p.Gly664Arg) c.1122G>C n.2093G>C | |
| 1 | g.160135170G= | CA1202195035 | ATP1A2 | c.1990G= (p.Gly664=) c.1122G= n.2093G= | |
| 1 | g.160135170G>T | CA343248501 | ATP1A2 | c.1990G>T (p.Gly664Cys) c.1122G>T n.2093G>T | COSMIC |
| 1 | g.160135171G>A | CA343248502 | ATP1A2 | c.1991G>A (p.Gly664Asp) c.1123G>A n.2094G>A | |
| 1 | g.160135171G>C | CA343248503 | ATP1A2 | c.1991G>C (p.Gly664Ala) c.1123G>C n.2094G>C | |
| 1 | g.160135171G>T | CA343248504 | ATP1A2 | c.1991G>T (p.Gly664Val) c.1123G>T n.2094G>T | |
| 1 | g.160135172C>A | CA421600319 | ATP1A2 | c.1992C>A (p.Gly664=) c.1124C>A n.2095C>A | |
| 1 | g.160135172C>G | CA421600320 | ATP1A2 | c.1992C>G (p.Gly664=) c.1124C>G n.2095C>G | |
| 1 | g.160135172C>T | CA421600321 | ATP1A2 | c.1992C>T (p.Gly664=) c.1124C>T n.2095C>T | |
| 1 | g.160135173T>A | CA343248505 | ATP1A2 | c.1993T>A (p.Ser665Thr) c.1125T>A n.2096T>A | |
| 1 | g.160135173T>C | CA343248506 | ATP1A2 | c.1993T>C (p.Ser665Pro) c.1125T>C n.2096T>C | |
| 1 | g.160135173T>G | CA343248507 | ATP1A2 | c.1993T>G (p.Ser665Ala) c.1125T>G n.2096T>G | |
| 1 | g.160135174C>A | CA343248509 | ATP1A2 | c.1994C>A (p.Ser665Tyr) c.1126C>A n.2097C>A | |
| 1 | g.160135174C>G | CA343248510 | ATP1A2 | c.1994C>G (p.Ser665Cys) c.1126C>G n.2097C>G | gnomAD v4 |
| 1 | g.160135174C>T | CA343248508 | ATP1A2 | c.1994C>T (p.Ser665Phe) c.1126C>T n.2097C>T | |
| 1 | g.160135175T>A | CA421600325 | ATP1A2 | c.1995T>A (p.Ser665=) c.1127T>A n.2098T>A | |
| 1 | g.160135175T>C | CA421600326 | ATP1A2 | c.1995T>C (p.Ser665=) c.1127T>C n.2098T>C | gnomAD v4 |
| 1 | g.160135175T>G | CA421600327 | ATP1A2 | c.1995T>G (p.Ser665=) c.1127T>G n.2098T>G | |
| 1 | g.160135176G>A | CA343248511 | ATP1A2 | c.1996G>A (p.Asp666Asn) c.1128G>A n.2099G>A | |
| 1 | g.160135176G>C | CA343248512 | ATP1A2 | c.1996G>C (p.Asp666His) c.1128G>C n.2099G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160135176G= | CA1202195036 | ATP1A2 | c.1996G= (p.Asp666=) c.1128G= n.2099G= | |
| 1 | g.160135176G>T | CA343248513 | ATP1A2 | c.1996G>T (p.Asp666Tyr) c.1128G>T n.2099G>T | |
| 1 | g.160135177A= | CA1202195037 | ATP1A2 | c.1997A= (p.Asp666=) c.1129A= n.2100A= | |
| 1 | g.160135177A>C | CA343248514 | ATP1A2 | c.1997A>C (p.Asp666Ala) c.1129A>C n.2100A>C | |
| 1 | g.160135177A>G | CA343248515 | ATP1A2 | c.1997A>G (p.Asp666Gly) c.1129A>G n.2100A>G | |
| 1 | g.160135177A>T | CA343248516 | ATP1A2 | c.1997A>T (p.Asp666Val) c.1129A>T n.2100A>T | dbSNP |
| 1 | g.160135178C>A | CA343248517 | ATP1A2 | c.1998C>A (p.Asp666Glu) c.1130C>A n.2101C>A | dbSNP |
| 1 | g.160135178C= | CA1202195038 | ATP1A2 | c.1998C= (p.Asp666=) c.1130C= n.2101C= | |
| 1 | g.160135178C>G | CA343248518 | ATP1A2 | c.1998C>G (p.Asp666Glu) c.1130C>G n.2101C>G | |
| 1 | g.160135178C>T | CA421600330 | ATP1A2 | c.1998C>T (p.Asp666=) c.1130C>T n.2101C>T | gnomAD v4 |
| 1 | g.160135179C>A | CA343248519 | ATP1A2 | c.1999C>A (p.Leu667Met) c.1131C>A n.2102C>A | |
| 1 | g.160135179C>G | CA343248520 | ATP1A2 | c.1999C>G (p.Leu667Val) c.1131C>G n.2102C>G | |
| 1 | g.160135179C>T | CA421600332 | ATP1A2 | c.1999C>T (p.Leu667=) c.1131C>T n.2102C>T | |
| 1 | g.160135180T>A | CA343248521 | ATP1A2 | c.2000T>A (p.Leu667Gln) c.1132T>A n.2103T>A | |
| 1 | g.160135180T>C | CA343248522 | ATP1A2 | c.2000T>C (p.Leu667Pro) c.1132T>C n.2103T>C | |
| 1 | g.160135180T>G | CA343248523 | ATP1A2 | c.2000T>G (p.Leu667Arg) c.1132T>G n.2103T>G | |
| 1 | g.160135181G>A | CA421600334 | ATP1A2 | c.2001G>A (p.Leu667=) c.1133G>A n.2104G>A | ClinVar dbSNP |
| 1 | g.160135181G>C | CA421600335 | ATP1A2 | c.2001G>C (p.Leu667=) c.1133G>C n.2104G>C | |
| 1 | g.160135181G>T | CA421600333 | ATP1A2 | c.2001G>T (p.Leu667=) c.1133G>T n.2104G>T | |
| 1 | g.160135182A>C | CA343248526 | ATP1A2 | c.2002A>C (p.Lys668Gln) c.1134A>C n.2105A>C | |
| 1 | g.160135182A>G | CA343248525 | ATP1A2 | c.2002A>G (p.Lys668Glu) c.1134A>G n.2105A>G | |
| 1 | g.160135182A>T | CA343248524 | ATP1A2 | c.2002A>T (p.Lys668Ter) c.1134A>T n.2105A>T | |
| 1 | g.160135183A>C | CA343248527 | ATP1A2 | c.2003A>C (p.Lys668Thr) c.1135A>C n.2106A>C | |
| 1 | g.160135183A>G | CA343248528 | ATP1A2 | c.2003A>G (p.Lys668Arg) c.1135A>G n.2106A>G | |
| 1 | g.160135183A>T | CA343248529 | ATP1A2 | c.2003A>T (p.Lys668Met) c.1135A>T n.2106A>T | |
| 1 | g.160135184G>A | CA421600339 | ATP1A2 | c.2004G>A (p.Lys668=) c.1136G>A n.2107G>A | dbSNP gnomAD v2 |
| 1 | g.160135184G>C | CA343248530 | ATP1A2 | c.2004G>C (p.Lys668Asn) c.1136G>C n.2107G>C | |
| 1 | g.160135184G= | CA1202195039 | ATP1A2 | c.2004G= (p.Lys668=) c.1136G= n.2107G= | |
| 1 | g.160135184G>T | CA343248531 | ATP1A2 | c.2004G>T (p.Lys668Asn) c.1136G>T n.2107G>T | |
| 1 | g.160135185G>A | CA343248532 | ATP1A2 | c.2005G>A (p.Asp669Asn) c.1137G>A n.2108G>A | |
| 1 | g.160135185G>C | CA343248533 | ATP1A2 | c.2005G>C (p.Asp669His) c.1137G>C n.2108G>C | |
| 1 | g.160135185G>T | CA343248534 | ATP1A2 | c.2005G>T (p.Asp669Tyr) c.1137G>T n.2108G>T | |
| 1 | g.160135186A>C | CA343248535 | ATP1A2 | c.2006A>C (p.Asp669Ala) c.1138A>C n.2109A>C | |
| 1 | g.160135186A>G | CA343248536 | ATP1A2 | c.2006A>G (p.Asp669Gly) c.1138A>G n.2109A>G | |
| 1 | g.160135186A>T | CA343248537 | ATP1A2 | c.2006A>T (p.Asp669Val) c.1138A>T n.2109A>T | |
| 1 | g.160135187C>A | CA343248538 | ATP1A2 | c.2007C>A (p.Asp669Glu) c.1139C>A n.2110C>A | |
| 1 | g.160135187C= | CA1202195040 | ATP1A2 | c.2007C= (p.Asp669=) c.1139C= n.2110C= | |
| 1 | g.160135187C>G | CA343248539 | ATP1A2 | c.2007C>G (p.Asp669Glu) c.1139C>G n.2110C>G | |
| 1 | g.160135187C>T | CA31500951 | ATP1A2 | c.2007C>T (p.Asp669=) c.1139C>T n.2110C>T | dbSNP |
| 1 | g.160135188A= | CA1202195041 | ATP1A2 | c.2008A= (p.Met670=) c.1140A= n.2111A= | |
| 1 | g.160135188A>C | CA343248541 | ATP1A2 | c.2008A>C (p.Met670Leu) c.1140A>C n.2111A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160135188A>G | CA343248542 | ATP1A2 | c.2008A>G (p.Met670Val) c.1140A>G n.2111A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.160135188A>T | CA343248540 | ATP1A2 | c.2008A>T (p.Met670Leu) c.1140A>T n.2111A>T | |
| 1 | g.160135189T>A | CA343248543 | ATP1A2 | c.2009T>A (p.Met670Lys) c.1141T>A n.2112T>A | |
| 1 | g.160135189T>C | CA343248544 | ATP1A2 | c.2009T>C (p.Met670Thr) c.1141T>C n.2112T>C | gnomAD v4 |
| 1 | g.160135189T>G | CA343248545 | ATP1A2 | c.2009T>G (p.Met670Arg) c.1141T>G n.2112T>G | |
| 1 | g.160135190G>A | CA343248546 | ATP1A2 | c.2010G>A (p.Met670Ile) c.1142G>A n.2113G>A | |
| 1 | g.160135190G>C | CA343248547 | ATP1A2 | c.2010G>C (p.Met670Ile) c.1142G>C n.2113G>C | |
| 1 | g.160135190G>T | CA343248548 | ATP1A2 | c.2010G>T (p.Met670Ile) c.1142G>T n.2113G>T | |
| 1 | g.160135191A= | CA1141253787 | ATP1A2 | c.2011A= (p.Thr671=) c.1143A= n.2114A= | |
| 1 | g.160135191A>C | CA343248549 | ATP1A2 | c.2011A>C (p.Thr671Pro) c.1143A>C n.2114A>C | |
| 1 | g.160135191A>G | CA31500958 | ATP1A2 | c.2011A>G (p.Thr671Ala) c.1143A>G n.2114A>G | dbSNP |
| 1 | g.160135191A>T | CA343248550 | ATP1A2 | c.2011A>T (p.Thr671Ser) c.1143A>T n.2114A>T | |
| 1 | g.160135192C>A | CA343248551 | ATP1A2 | c.2012C>A (p.Thr671Lys) c.1144C>A n.2115C>A | |
| 1 | g.160135192C>G | CA343248552 | ATP1A2 | c.2012C>G (p.Thr671Arg) c.1144C>G n.2115C>G | |
| 1 | g.160135192C>T | CA343248553 | ATP1A2 | c.2012C>T (p.Thr671Ile) c.1144C>T n.2115C>T | gnomAD v4 |
| 1 | g.160135193A= | CA1202195042 | ATP1A2 | c.2013A= (p.Thr671=) c.1145A= n.2116A= | |
| 1 | g.160135193A>C | CA421600347 | ATP1A2 | c.2013A>C (p.Thr671=) c.1145A>C n.2116A>C | |
| 1 | g.160135193A>G | CA421600348 | ATP1A2 | c.2013A>G (p.Thr671=) c.1145A>G n.2116A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160135193A>T | CA421600349 | ATP1A2 | c.2013A>T (p.Thr671=) c.1145A>T n.2116A>T | gnomAD v4 |
| 1 | g.160135194T>A | CA343248556 | ATP1A2 | c.2014T>A (p.Ser672Thr) c.1146T>A n.2117T>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.160135194T>C | CA343248554 | ATP1A2 | c.2014T>C (p.Ser672Pro) c.1146T>C n.2117T>C | |
| 1 | g.160135194T>G | CA343248555 | ATP1A2 | c.2014T>G (p.Ser672Ala) c.1146T>G n.2117T>G | |
| 1 | g.160135194T= | CA1202195043 | ATP1A2 | c.2014T= (p.Ser672=) c.1146T= n.2117T= | |
| 1 | g.160135195C>A | CA343248557 | ATP1A2 | c.2015C>A (p.Ser672Ter) c.1147C>A n.2118C>A | dbSNP |
| 1 | g.160135195C= | CA1142070547 | ATP1A2 | c.2015C= (p.Ser672=) c.1147C= n.2118C= | |
| 1 | g.160135195C>G | CA343248558 | ATP1A2 | c.2015C>G (p.Ser672Trp) c.1147C>G n.2118C>G | |
| 1 | g.160135195C>T | CA1194645 | ATP1A2 | c.2015C>T (p.Ser672Leu) c.1147C>T n.2118C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.160135196G>A | CA1194646 | ATP1A2 | c.2016G>A (p.Ser672=) c.1148G>A n.2119G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135196G>C | CA421600353 | ATP1A2 | c.2016G>C (p.Ser672=) c.1148G>C n.2119G>C | |
| 1 | g.160135196G= | CA1202195044 | ATP1A2 | c.2016G= (p.Ser672=) c.1148G= n.2119G= | |
| 1 | g.160135196G>T | CA421600354 | ATP1A2 | c.2016G>T (p.Ser672=) c.1148G>T n.2119G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160135197G>A | CA343248559 | ATP1A2 | c.2017G>A (p.Glu673Lys) c.1149G>A n.2120G>A | COSMIC |
| 1 | g.160135197G>C | CA343248560 | ATP1A2 | c.2017G>C (p.Glu673Gln) c.1149G>C n.2120G>C | |
| 1 | g.160135197G>T | CA343248561 | ATP1A2 | c.2017G>T (p.Glu673Ter) c.1149G>T n.2120G>T | |
| 1 | g.160135198A>C | CA343248562 | ATP1A2 | c.2018A>C (p.Glu673Ala) c.1150A>C n.2121A>C | |
| 1 | g.160135198A>G | CA343248563 | ATP1A2 | c.2018A>G (p.Glu673Gly) c.1150A>G n.2121A>G | |
| 1 | g.160135198A>T | CA343248564 | ATP1A2 | c.2018A>T (p.Glu673Val) c.1150A>T n.2121A>T | |
| 1 | g.160135199G>A | CA421600357 | ATP1A2 | c.2019G>A (p.Glu673=) c.1151G>A n.2122G>A | gnomAD v4 |
| 1 | g.160135199G>C | CA343248565 | ATP1A2 | c.2019G>C (p.Glu673Asp) c.1151G>C n.2122G>C | |
| 1 | g.160135199G>T | CA343248566 | ATP1A2 | c.2019G>T (p.Glu673Asp) c.1151G>T n.2122G>T | |
| 1 | g.160135200C>A | CA343248568 | ATP1A2 | c.2020C>A (p.Gln674Lys) c.1152C>A n.2123C>A | |
| 1 | g.160135200C>G | CA343248569 | ATP1A2 | c.2020C>G (p.Gln674Glu) c.1152C>G n.2123C>G | |
| 1 | g.160135200C>T | CA343248567 | ATP1A2 | c.2020C>T (p.Gln674Ter) c.1152C>T n.2123C>T | |
| 1 | g.160135201A>C | CA343248570 | ATP1A2 | c.2021A>C (p.Gln674Pro) c.1153A>C n.2124A>C | |
| 1 | g.160135201A>G | CA343248572 | ATP1A2 | c.2021A>G (p.Gln674Arg) c.1153A>G n.2124A>G | |
| 1 | g.160135201A>T | CA343248571 | ATP1A2 | c.2021A>T (p.Gln674Leu) c.1153A>T n.2124A>T | |
| 1 | g.160135202G>A | CA421600361 | ATP1A2 | c.2022G>A (p.Gln674=) c.1154G>A n.2125G>A | dbSNP |
| 1 | g.160135202G>C | CA343248573 | ATP1A2 | c.2022G>C (p.Gln674His) c.1154G>C n.2125G>C | |
| 1 | g.160135202G= | CA1202195045 | ATP1A2 | c.2022G= (p.Gln674=) c.1154G= n.2125G= | |
| 1 | g.160135202G>T | CA343248574 | ATP1A2 | c.2022G>T (p.Gln674His) c.1154G>T n.2125G>T | dbSNP |
| 1 | g.160135203C>A | CA343248575 | ATP1A2 | c.2023C>A (p.Leu675Ile) c.1155C>A n.2126C>A | |
| 1 | g.160135203C>G | CA343248577 | ATP1A2 | c.2023C>G (p.Leu675Val) c.1155C>G n.2126C>G | |
| 1 | g.160135203C>T | CA343248576 | ATP1A2 | c.2023C>T (p.Leu675Phe) c.1155C>T n.2126C>T | |
| 1 | g.160135204T>A | CA343248578 | ATP1A2 | c.2024T>A (p.Leu675His) c.1156T>A n.2127T>A | |
| 1 | g.160135204T>C | CA343248580 | ATP1A2 | c.2024T>C (p.Leu675Pro) c.1156T>C n.2127T>C | |
| 1 | g.160135204T>G | CA343248579 | ATP1A2 | c.2024T>G (p.Leu675Arg) c.1156T>G n.2127T>G | |
| 1 | g.160135205C>A | CA421600366 | ATP1A2 | c.2025C>A (p.Leu675=) c.1157C>A n.2128C>A | |
| 1 | g.160135205C= | CA1202195046 | ATP1A2 | c.2025C= (p.Leu675=) c.1157C= n.2128C= | |
| 1 | g.160135205C>G | CA421600368 | ATP1A2 | c.2025C>G (p.Leu675=) c.1157C>G n.2128C>G | ClinVar dbSNP |
| 1 | g.160135205C>T | CA421600367 | ATP1A2 | c.2025C>T (p.Leu675=) c.1157C>T n.2128C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160135206G>A | CA31500964 | ATP1A2 | c.2026G>A (p.Asp676Asn) c.1158G>A n.2129G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160135206G>C | CA343248581 | ATP1A2 | c.2026G>C (p.Asp676His) c.1158G>C n.2129G>C | dbSNP |
| 1 | g.160135206G= | CA1202195047 | ATP1A2 | c.2026G= (p.Asp676=) c.1158G= n.2129G= | |
| 1 | g.160135206G>T | CA343248582 | ATP1A2 | c.2026G>T (p.Asp676Tyr) c.1158G>T n.2129G>T | |
| 1 | g.160135207A>C | CA343248583 | ATP1A2 | c.2027A>C (p.Asp676Ala) c.1159A>C n.2130A>C | |
| 1 | g.160135207A>G | CA343248584 | ATP1A2 | c.2027A>G (p.Asp676Gly) c.1159A>G n.2130A>G | |
| 1 | g.160135207A>T | CA343248585 | ATP1A2 | c.2027A>T (p.Asp676Val) c.1159A>T n.2130A>T | |
| 1 | g.160135208T>A | CA1194647 | ATP1A2 | c.2028T>A (p.Asp676Glu) c.1160T>A n.2131T>A | dbSNP ExAC gnomAD v2 |
| 1 | g.160135208T>C | CA421600375 | ATP1A2 | c.2028T>C (p.Asp676=) c.1160T>C n.2131T>C | |
| 1 | g.160135208T>G | CA343248586 | ATP1A2 | c.2028T>G (p.Asp676Glu) c.1160T>G n.2131T>G | |
| 1 | g.160135208T= | CA1143565074 | ATP1A2 | c.2028T= (p.Asp676=) c.1160T= n.2131T= | |
| 1 | g.160135209G>A | CA343248587 | ATP1A2 | c.2029G>A (p.Glu677Lys) c.1161G>A n.2132G>A | |
| 1 | g.160135209G>C | CA343248588 | ATP1A2 | c.2029G>C (p.Glu677Gln) c.1161G>C n.2132G>C | |
| 1 | g.160135209G>T | CA343248589 | ATP1A2 | c.2029G>T (p.Glu677Ter) c.1161G>T n.2132G>T | |
| 1 | g.160135210A>C | CA343248590 | ATP1A2 | c.2030A>C (p.Glu677Ala) c.1162A>C n.2133A>C | gnomAD v4 |
| 1 | g.160135210A>G | CA343248592 | ATP1A2 | c.2030A>G (p.Glu677Gly) c.1162A>G n.2133A>G | |
| 1 | g.160135210A>T | CA343248591 | ATP1A2 | c.2030A>T (p.Glu677Val) c.1162A>T n.2133A>T | |
| 1 | g.160135211G>A | CA421600377 | ATP1A2 | c.2031G>A (p.Glu677=) c.1163G>A n.2134G>A | |
| 1 | g.160135211G>C | CA343248593 | ATP1A2 | c.2031G>C (p.Glu677Asp) c.1163G>C n.2134G>C | |
| 1 | g.160135211G>T | CA343248594 | ATP1A2 | c.2031G>T (p.Glu677Asp) c.1163G>T n.2134G>T | |
| 1 | g.160135212A>C | CA343248595 | ATP1A2 | c.2032A>C (p.Ile678Leu) c.1164A>C n.2135A>C | gnomAD v4 |
| 1 | g.160135212A>G | CA343248596 | ATP1A2 | c.2032A>G (p.Ile678Val) c.1164A>G n.2135A>G | |
| 1 | g.160135212A>T | CA343248597 | ATP1A2 | c.2032A>T (p.Ile678Phe) c.1164A>T n.2135A>T | COSMIC |
| 1 | g.160135213T>A | CA343248598 | ATP1A2 | c.2033T>A (p.Ile678Asn) c.1165T>A n.2136T>A | |
| 1 | g.160135213T>C | CA31500969 | ATP1A2 | c.2033T>C (p.Ile678Thr) c.1165T>C n.2136T>C | dbSNP |
| 1 | g.160135213T>G | CA343248599 | ATP1A2 | c.2033T>G (p.Ile678Ser) c.1165T>G n.2136T>G | gnomAD v4 |
| 1 | g.160135213T= | CA1202195048 | ATP1A2 | c.2033T= (p.Ile678=) c.1165T= n.2136T= | |
| 1 | g.160135214C>A | CA421600380 | ATP1A2 | c.2034C>A (p.Ile678=) c.1166C>A n.2137C>A | gnomAD v4 |
| 1 | g.160135214C>G | CA343248600 | ATP1A2 | c.2034C>G (p.Ile678Met) c.1166C>G n.2137C>G | |
| 1 | g.160135214C>T | CA421600381 | ATP1A2 | c.2034C>T (p.Ile678=) c.1166C>T n.2137C>T | gnomAD v4 |
| 1 | g.160135215C>A | CA343248602 | ATP1A2 | c.2035C>A (p.Leu679Ile) c.1167C>A n.2138C>A | |
| 1 | g.160135215C>G | CA343248603 | ATP1A2 | c.2035C>G (p.Leu679Val) c.1167C>G n.2138C>G | |
| 1 | g.160135215C>T | CA343248601 | ATP1A2 | c.2035C>T (p.Leu679Phe) c.1167C>T n.2138C>T | |
| 1 | g.160135216T>A | CA343248604 | ATP1A2 | c.2036T>A (p.Leu679His) c.1168T>A n.2139T>A | |
| 1 | g.160135216T>C | CA343248605 | ATP1A2 | c.2036T>C (p.Leu679Pro) c.1168T>C n.2139T>C | |
| 1 | g.160135216T>G | CA343248606 | ATP1A2 | c.2036T>G (p.Leu679Arg) c.1168T>G n.2139T>G | |
| 1 | g.160135217C>A | CA421600382 | ATP1A2 | c.2037C>A (p.Leu679=) c.1169C>A n.2140C>A | |
| 1 | g.160135217C>G | CA421600384 | ATP1A2 | c.2037C>G (p.Leu679=) c.1169C>G n.2140C>G | |
| 1 | g.160135217C>T | CA421600383 | ATP1A2 | c.2037C>T (p.Leu679=) c.1169C>T n.2140C>T | |
| 1 | g.160135218A>C | CA343248607 | ATP1A2 | c.2038A>C (p.Lys680Gln) c.1170A>C n.2141A>C | |
| 1 | g.160135218A>G | CA343248608 | ATP1A2 | c.2038A>G (p.Lys680Glu) c.1170A>G n.2141A>G | |
| 1 | g.160135218A>T | CA343248609 | ATP1A2 | c.2038A>T (p.Lys680Ter) c.1170A>T n.2141A>T | |
| 1 | g.160135219A>C | CA343248610 | ATP1A2 | c.2039A>C (p.Lys680Thr) c.1171A>C n.2142A>C | |
| 1 | g.160135219A>G | CA343248611 | ATP1A2 | c.2039A>G (p.Lys680Arg) c.1171A>G n.2142A>G | gnomAD v4 |
| 1 | g.160135219A>T | CA343248612 | ATP1A2 | c.2039A>T (p.Lys680Met) c.1171A>T n.2142A>T | |
| 1 | g.160135220G>A | CA421600386 | ATP1A2 | c.2040G>A (p.Lys680=) c.1172G>A n.2143G>A | |
| 1 | g.160135220G>C | CA343248613 | ATP1A2 | c.2040G>C (p.Lys680Asn) c.1172G>C n.2143G>C | |
| 1 | g.160135220G>T | CA343248614 | ATP1A2 | c.2040G>T (p.Lys680Asn) c.1172G>T n.2143G>T | |
| 1 | g.160135221A>C | CA343248617 | ATP1A2 | c.2041A>C (p.Asn681His) c.1173A>C n.2144A>C | |
| 1 | g.160135221A>G | CA343248616 | ATP1A2 | c.2041A>G (p.Asn681Asp) c.1173A>G n.2144A>G | |
| 1 | g.160135221A>T | CA343248615 | ATP1A2 | c.2041A>T (p.Asn681Tyr) c.1173A>T n.2144A>T | |
| 1 | g.160135222A>C | CA343248618 | ATP1A2 | c.2042A>C (p.Asn681Thr) c.1174A>C n.2145A>C | |
| 1 | g.160135222A>G | CA343248619 | ATP1A2 | c.2042A>G (p.Asn681Ser) c.1174A>G n.2145A>G | |
| 1 | g.160135222A>T | CA343248620 | ATP1A2 | c.2042A>T (p.Asn681Ile) c.1174A>T n.2145A>T | |
| 1 | g.160135223C>A | CA343248621 | ATP1A2 | c.2043C>A (p.Asn681Lys) c.1175C>A n.2146C>A | |
| 1 | g.160135223C>G | CA343248622 | ATP1A2 | c.2043C>G (p.Asn681Lys) c.1175C>G n.2146C>G | |
| 1 | g.160135223C>T | CA421600390 | ATP1A2 | c.2043C>T (p.Asn681=) c.1175C>T n.2146C>T | |
| 1 | g.160135223_160135225delinsCCA | CA1202195049 | ATP1A2 | c.2043_2045delinsCCA (p.Asn681=) c.1175_1177delinsCCA n.2146_2148delinsCCA | |
| 1 | g.160135224C>A | CA343248623 | ATP1A2 | c.2044C>A (p.His682Asn) c.1176C>A n.2147C>A | |
| 1 | g.160135224C>G | CA343248624 | ATP1A2 | c.2044C>G (p.His682Asp) c.1176C>G n.2147C>G | |
| 1 | g.160135224C>T | CA343248625 | ATP1A2 | c.2044C>T (p.His682Tyr) c.1176C>T n.2147C>T | gnomAD v4 |
| 1 | g.160135228_160135229del | CA526678354 | ATP1A2 | c.2048_2049del (p.Thr683ArgfsTer?) c.1180_1181del n.2151_2152del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160135225A>C | CA343248626 | ATP1A2 | c.2045A>C (p.His682Pro) c.1177A>C n.2148A>C | |
| 1 | g.160135225A>G | CA343248627 | ATP1A2 | c.2045A>G (p.His682Arg) c.1177A>G n.2148A>G | gnomAD v4 |
| 1 | g.160135225A>T | CA343248628 | ATP1A2 | c.2045A>T (p.His682Leu) c.1177A>T n.2148A>T | |
| 1 | g.160135226C>A | CA343248629 | ATP1A2 | c.2046C>A (p.His682Gln) c.1178C>A n.2149C>A | dbSNP |
| 1 | g.160135226C= | CA1202195050 | ATP1A2 | c.2046C= (p.His682=) c.1178C= n.2149C= | |
| 1 | g.160135226C>G | CA343248630 | ATP1A2 | c.2046C>G (p.His682Gln) c.1178C>G n.2149C>G | |
| 1 | g.160135226C>T | CA421600394 | ATP1A2 | c.2046C>T (p.His682=) c.1178C>T n.2149C>T | dbSNP |
| 1 | g.160135227A>C | CA343248632 | ATP1A2 | c.2047A>C (p.Thr683Pro) c.1179A>C n.2150A>C | |
| 1 | g.160135227A>G | CA343248633 | ATP1A2 | c.2047A>G (p.Thr683Ala) c.1179A>G n.2150A>G | gnomAD v4 |
| 1 | g.160135227A>T | CA343248631 | ATP1A2 | c.2047A>T (p.Thr683Ser) c.1179A>T n.2150A>T | |
| 1 | g.160135228C>A | CA343248635 | ATP1A2 | c.2048C>A (p.Thr683Lys) c.1180C>A n.2151C>A | |
| 1 | g.160135228C= | CA1202195051 | ATP1A2 | c.2048C= (p.Thr683=) c.1180C= n.2151C= | |
| 1 | g.160135228C>G | CA343248634 | ATP1A2 | c.2048C>G (p.Thr683Arg) c.1180C>G n.2151C>G | gnomAD v3 gnomAD v4 |
| 1 | g.160135228C>T | CA1194648 | ATP1A2 | c.2048C>T (p.Thr683Ile) c.1180C>T n.2151C>T | dbSNP ExAC gnomAD v2 |
| 1 | g.160135229A>C | CA421600396 | ATP1A2 | c.2049A>C (p.Thr683=) c.1181A>C n.2152A>C | |
| 1 | g.160135229A>G | CA421600397 | ATP1A2 | c.2049A>G (p.Thr683=) c.1181A>G n.2152A>G | |
| 1 | g.160135229A>T | CA421600398 | ATP1A2 | c.2049A>T (p.Thr683=) c.1181A>T n.2152A>T | |
| 1 | g.160135230G>A | CA343248636 | ATP1A2 | c.2050G>A (p.Glu684Lys) c.1182G>A n.2153G>A | |
| 1 | g.160135230G>C | CA343248637 | ATP1A2 | c.2050G>C (p.Glu684Gln) c.1182G>C n.2153G>C | |
| 1 | g.160135230G>T | CA343248638 | ATP1A2 | c.2050G>T (p.Glu684Ter) c.1182G>T n.2153G>T | |
| 1 | g.160135231A>C | CA343248639 | ATP1A2 | c.2051A>C (p.Glu684Ala) c.1183A>C n.2154A>C | |
| 1 | g.160135231A>G | CA343248640 | ATP1A2 | c.2051A>G (p.Glu684Gly) c.1183A>G n.2154A>G | |
| 1 | g.160135231A>T | CA343248641 | ATP1A2 | c.2051A>T (p.Glu684Val) c.1183A>T n.2154A>T | |
| 1 | g.160135232G>A | CA421600400 | ATP1A2 | c.2052G>A (p.Glu684=) c.1184G>A n.2155G>A | |
| 1 | g.160135232G>C | CA343248642 | ATP1A2 | c.2052G>C (p.Glu684Asp) c.1184G>C n.2155G>C | |
| 1 | g.160135232G>T | CA343248643 | ATP1A2 | c.2052G>T (p.Glu684Asp) c.1184G>T n.2155G>T | |
| 1 | g.160135233A>C | CA343248644 | ATP1A2 | c.2053A>C (p.Ile685Leu) c.1185A>C n.2156A>C | |
| 1 | g.160135233A>G | CA343248645 | ATP1A2 | c.2053A>G (p.Ile685Val) c.1185A>G n.2156A>G | |
| 1 | g.160135233A>T | CA343248646 | ATP1A2 | c.2053A>T (p.Ile685Phe) c.1185A>T n.2156A>T | |
| 1 | g.160135234T>A | CA343248647 | ATP1A2 | c.2054T>A (p.Ile685Asn) c.1186T>A n.2157T>A | |
| 1 | g.160135234T>C | CA343248649 | ATP1A2 | c.2054T>C (p.Ile685Thr) c.1186T>C n.2157T>C | |
| 1 | g.160135234T>G | CA343248648 | ATP1A2 | c.2054T>G (p.Ile685Ser) c.1186T>G n.2157T>G | |
| 1 | g.160135235C>A | CA421600401 | ATP1A2 | c.2055C>A (p.Ile685=) c.1187C>A n.2158C>A | gnomAD v4 |
| 1 | g.160135235C= | CA1202195052 | ATP1A2 | c.2055C= (p.Ile685=) c.1187C= n.2158C= | |
| 1 | g.160135235C>G | CA343248650 | ATP1A2 | c.2055C>G (p.Ile685Met) c.1187C>G n.2158C>G | gnomAD v4 |
| 1 | g.160135235C>T | CA1194649 | ATP1A2 | c.2055C>T (p.Ile685=) c.1187C>T n.2158C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160135236G>A | CA1194650 | ATP1A2 | c.2056G>A (p.Val686Ile) c.1188G>A n.2159G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160135236G>C | CA343248651 | ATP1A2 | c.2056G>C (p.Val686Leu) c.1188G>C n.2159G>C | |
| 1 | g.160135236G= | CA1202195053 | ATP1A2 | c.2056G= (p.Val686=) c.1188G= n.2159G= | |
| 1 | g.160135236G>T | CA343248652 | ATP1A2 | c.2056G>T (p.Val686Phe) c.1188G>T n.2159G>T | |
| 1 | g.160135237T>A | CA343248653 | ATP1A2 | c.2057T>A (p.Val686Asp) c.1189T>A n.2160T>A | |
| 1 | g.160135237T>C | CA343248654 | ATP1A2 | c.2057T>C (p.Val686Ala) c.1189T>C n.2160T>C | gnomAD v4 |
| 1 | g.160135237T>G | CA343248655 | ATP1A2 | c.2057T>G (p.Val686Gly) c.1189T>G n.2160T>G | |
| 1 | g.160135238C>A | CA421600403 | ATP1A2 | c.2058C>A (p.Val686=) c.1190C>A n.2161C>A | COSMIC |
| 1 | g.160135238C>G | CA421600404 | ATP1A2 | c.2058C>G (p.Val686=) c.1190C>G n.2161C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160135238C>T | CA421600405 | ATP1A2 | c.2058C>T (p.Val686=) c.1190C>T n.2161C>T | |
| 1 | g.160135239T>A | CA343248656 | ATP1A2 | c.2059T>A (p.Phe687Ile) c.1191T>A n.2162T>A | |
| 1 | g.160135239T>C | CA343248657 | ATP1A2 | c.2059T>C (p.Phe687Leu) c.1191T>C n.2162T>C | |
| 1 | g.160135239T>G | CA343248658 | ATP1A2 | c.2059T>G (p.Phe687Val) c.1191T>G n.2162T>G | |
| 1 | g.160135240_160135241del | CA2648642694 | ATP1A2 | c.2060_2061del (p.Phe687CysfsTer27) c.1192_1193del n.2163_2164del | gnomAD v4 |
| 1 | g.160135240T>A | CA343248660 | ATP1A2 | c.2060T>A (p.Phe687Tyr) c.1192T>A n.2163T>A | |
| 1 | g.160135240T>C | CA343248661 | ATP1A2 | c.2060T>C (p.Phe687Ser) c.1192T>C n.2163T>C | |
| 1 | g.160135240T>G | CA343248659 | ATP1A2 | c.2060T>G (p.Phe687Cys) c.1192T>G n.2163T>G | |
| 1 | g.160135241T>A | CA343248662 | ATP1A2 | c.2061T>A (p.Phe687Leu) c.1193T>A n.2164T>A | |
| 1 | g.160135241T>C | CA421600406 | ATP1A2 | c.2061T>C (p.Phe687=) c.1193T>C n.2164T>C | gnomAD v4 |
| 1 | g.160135241T>G | CA343248663 | ATP1A2 | c.2061T>G (p.Phe687Leu) c.1193T>G n.2164T>G | |
| 1 | g.160135242G>A | CA343248664 | ATP1A2 | c.2062G>A (p.Ala688Thr) c.1194G>A n.2165G>A | |
| 1 | g.160135242G>C | CA31500984 | ATP1A2 | c.2062G>C (p.Ala688Pro) c.1194G>C n.2165G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160135242G= | CA1143417401 | ATP1A2 | c.2062G= (p.Ala688=) c.1194G= n.2165G= | |
| 1 | g.160135242G>T | CA1194651 | ATP1A2 | c.2062G>T (p.Ala688Ser) c.1194G>T n.2165G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160135243C>A | CA343248665 | ATP1A2 | c.2063C>A (p.Ala688Asp) c.1195C>A n.2166C>A | |
| 1 | g.160135243C>G | CA343248666 | ATP1A2 | c.2063C>G (p.Ala688Gly) c.1195C>G n.2166C>G | |
| 1 | g.160135243C>T | CA343248667 | ATP1A2 | c.2063C>T (p.Ala688Val) c.1195C>T n.2166C>T | gnomAD v4 COSMIC |
| 1 | g.160135244T>A | CA421600409 | ATP1A2 | c.2064T>A (p.Ala688=) c.1196T>A n.2167T>A | |
| 1 | g.160135244T>C | CA421600410 | ATP1A2 | c.2064T>C (p.Ala688=) c.1196T>C n.2167T>C | |
| 1 | g.160135244T>G | CA421600411 | ATP1A2 | c.2064T>G (p.Ala688=) c.1196T>G n.2167T>G | |
| 1 | g.160135245C>A | CA421600413 | ATP1A2 | c.2065C>A (p.Arg689=) c.1197C>A n.2168C>A | |
| 1 | g.160135245C= | CA1202195054 | ATP1A2 | c.2065C= (p.Arg689=) c.1197C= n.2168C= | |
| 1 | g.160135245C>G | CA343248668 | ATP1A2 | c.2065C>G (p.Arg689Gly) c.1197C>G n.2168C>G | |
| 1 | g.160135245C>T | CA343248669 | ATP1A2 | c.2065C>T (p.Arg689Ter) c.1197C>T n.2168C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 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 |