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.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 | |
| 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 |