Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900886C>A | CA395411533 | ATP2A1 | c.2070C>A (p.Tyr690Ter) c.1695C>A (p.Tyr565Ter) | |
16 | g.28900886C= | CA2215885461 | ATP2A1 | c.2070C= (p.Tyr690=) c.1695C= (p.Tyr565=) | |
16 | g.28900886C>G | CA395411534 | ATP2A1 | c.2070C>G (p.Tyr690Ter) c.1695C>G (p.Tyr565Ter) | |
16 | g.28900886C>T | CA494874275 | ATP2A1 | c.2070C>T (p.Tyr690=) c.1695C>T (p.Tyr565=) | dbSNP gnomAD v4 |
16 | g.28900887C>A | CA395411535 | ATP2A1 | c.2071C>A (p.Leu691Met) c.1696C>A (p.Leu566Met) | |
16 | g.28900887C= | CA2215885462 | ATP2A1 | c.2071C= (p.Leu691=) c.1696C= (p.Leu566=) | |
16 | g.28900887C>G | CA395411536 | ATP2A1 | c.2071C>G (p.Leu691Val) c.1696C>G (p.Leu566Val) | |
16 | g.28900887C>T | CA494874276 | ATP2A1 | c.2071C>T (p.Leu691=) c.1696C>T (p.Leu566=) | dbSNP |
16 | g.28900888T>A | CA395411537 | ATP2A1 | c.2072T>A (p.Leu691Gln) c.1697T>A (p.Leu566Gln) | |
16 | g.28900888T>C | CA395411538 | ATP2A1 | c.2072T>C (p.Leu691Pro) c.1697T>C (p.Leu566Pro) | |
16 | g.28900888T>G | CA395411539 | ATP2A1 | c.2072T>G (p.Leu691Arg) c.1697T>G (p.Leu566Arg) | |
16 | g.28900889G>A | CA494874277 | ATP2A1 | c.2073G>A (p.Leu691=) c.1698G>A (p.Leu566=) | ClinVar dbSNP |
16 | g.28900889G>C | CA494874278 | ATP2A1 | c.2073G>C (p.Leu691=) c.1698G>C (p.Leu566=) | |
16 | g.28900889G= | CA2215885463 | ATP2A1 | c.2073G= (p.Leu691=) c.1698G= (p.Leu566=) | |
16 | g.28900889G>T | CA494874279 | ATP2A1 | c.2073G>T (p.Leu691=) c.1698G>T (p.Leu566=) | |
16 | g.28900890C>A | CA395411542 | ATP2A1 | c.2074C>A (p.Gln692Lys) c.1699C>A (p.Gln567Lys) | |
16 | g.28900890C>G | CA395411540 | ATP2A1 | c.2074C>G (p.Gln692Glu) c.1699C>G (p.Gln567Glu) | |
16 | g.28900890C>T | CA395411541 | ATP2A1 | c.2074C>T (p.Gln692Ter) c.1699C>T (p.Gln567Ter) | |
16 | g.28900891A= | CA2215885464 | ATP2A1 | c.2075A= (p.Gln692=) c.1700A= (p.Gln567=) | |
16 | g.28900891A>C | CA395411543 | ATP2A1 | c.2075A>C (p.Gln692Pro) c.1700A>C (p.Gln567Pro) | |
16 | g.28900891A>G | CA395411544 | ATP2A1 | c.2075A>G (p.Gln692Arg) c.1700A>G (p.Gln567Arg) | ClinVar dbSNP gnomAD v2 |
16 | g.28900891A>T | CA395411545 | ATP2A1 | c.2075A>T (p.Gln692Leu) c.1700A>T (p.Gln567Leu) | |
16 | g.28900892G>A | CA494874280 | ATP2A1 | c.2076G>A (p.Gln692=) c.1701G>A (p.Gln567=) | |
16 | g.28900892G>C | CA395411546 | ATP2A1 | c.2076G>C (p.Gln692His) c.1701G>C (p.Gln567His) | |
16 | g.28900892G>T | CA395411547 | ATP2A1 | c.2076G>T (p.Gln692His) c.1701G>T (p.Gln567His) | |
16 | g.28900893T>A | CA395411548 | ATP2A1 | c.2077T>A (p.Ser693Thr) c.1702T>A (p.Ser568Thr) | |
16 | g.28900893T>C | CA395411549 | ATP2A1 | c.2077T>C (p.Ser693Pro) c.1702T>C (p.Ser568Pro) | |
16 | g.28900893T>G | CA7987160 | ATP2A1 | c.2077T>G (p.Ser693Ala) c.1702T>G (p.Ser568Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900893T= | CA2215885465 | ATP2A1 | c.2077T= (p.Ser693=) c.1702T= (p.Ser568=) | |
16 | g.28900894C>A | CA395411550 | ATP2A1 | c.2078C>A (p.Ser693Tyr) c.1703C>A (p.Ser568Tyr) | gnomAD v4 |
16 | g.28900894C>G | CA395411551 | ATP2A1 | c.2078C>G (p.Ser693Cys) c.1703C>G (p.Ser568Cys) | |
16 | g.28900894C>T | CA395411552 | ATP2A1 | c.2078C>T (p.Ser693Phe) c.1703C>T (p.Ser568Phe) | |
16 | g.28900895C>A | CA494874281 | ATP2A1 | c.2079C>A (p.Ser693=) c.1704C>A (p.Ser568=) | |
16 | g.28900895C>G | CA494874282 | ATP2A1 | c.2079C>G (p.Ser693=) c.1704C>G (p.Ser568=) | |
16 | g.28900895C>T | CA494874283 | ATP2A1 | c.2079C>T (p.Ser693=) c.1704C>T (p.Ser568=) | gnomAD v4 |
16 | g.28900896T>A | CA395411555 | ATP2A1 | c.2080T>A (p.Tyr694Asn) c.1705T>A (p.Tyr569Asn) | |
16 | g.28900896T>C | CA395411554 | ATP2A1 | c.2080T>C (p.Tyr694His) c.1705T>C (p.Tyr569His) | |
16 | g.28900896T>G | CA395411553 | ATP2A1 | c.2080T>G (p.Tyr694Asp) c.1705T>G (p.Tyr569Asp) | |
16 | g.28900897A= | CA2215885466 | ATP2A1 | c.2081A= (p.Tyr694=) c.1706A= (p.Tyr569=) | |
16 | g.28900897A>C | CA395411556 | ATP2A1 | c.2081A>C (p.Tyr694Ser) c.1706A>C (p.Tyr569Ser) | |
16 | g.28900897A>G | CA395411558 | ATP2A1 | c.2081A>G (p.Tyr694Cys) c.1706A>G (p.Tyr569Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900897A>T | CA395411557 | ATP2A1 | c.2081A>T (p.Tyr694Phe) c.1706A>T (p.Tyr569Phe) | |
16 | g.28900898C>A | CA395411559 | ATP2A1 | c.2082C>A (p.Tyr694Ter) c.1707C>A (p.Tyr569Ter) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900898C= | CA2215885467 | ATP2A1 | c.2082C= (p.Tyr694=) c.1707C= (p.Tyr569=) | |
16 | g.28900898C>G | CA395411560 | ATP2A1 | c.2082C>G (p.Tyr694Ter) c.1707C>G (p.Tyr569Ter) | |
16 | g.28900898C>T | CA7987161 | ATP2A1 | c.2082C>T (p.Tyr694=) c.1707C>T (p.Tyr569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900899G>A | CA279240525 | ATP2A1 | c.2083G>A (p.Asp695Asn) c.1708G>A (p.Asp570Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900899G>C | CA395411561 | ATP2A1 | c.2083G>C (p.Asp695His) c.1708G>C (p.Asp570His) | |
16 | g.28900899G= | CA2215885468 | ATP2A1 | c.2083G= (p.Asp695=) c.1708G= (p.Asp570=) | |
16 | g.28900899G>T | CA395411562 | ATP2A1 | c.2083G>T (p.Asp695Tyr) c.1708G>T (p.Asp570Tyr) | |
16 | g.28900900A>C | CA395411563 | ATP2A1 | c.2084A>C (p.Asp695Ala) c.1709A>C (p.Asp570Ala) | |
16 | g.28900900A>G | CA395411564 | ATP2A1 | c.2084A>G (p.Asp695Gly) c.1709A>G (p.Asp570Gly) | |
16 | g.28900900A>T | CA395411565 | ATP2A1 | c.2084A>T (p.Asp695Val) c.1709A>T (p.Asp570Val) | |
16 | g.28900901T>A | CA395411566 | ATP2A1 | c.2085T>A (p.Asp695Glu) c.1710T>A (p.Asp570Glu) | |
16 | g.28900901T>C | CA494874284 | ATP2A1 | c.2085T>C (p.Asp695=) c.1710T>C (p.Asp570=) | |
16 | g.28900901T>G | CA395411567 | ATP2A1 | c.2085T>G (p.Asp695Glu) c.1710T>G (p.Asp570Glu) | gnomAD v4 |
16 | g.28900902G>A | CA395411570 | ATP2A1 | c.2086G>A (p.Glu696Lys) c.1711G>A (p.Glu571Lys) | gnomAD v4 |
16 | g.28900902G>C | CA395411569 | ATP2A1 | c.2086G>C (p.Glu696Gln) c.1711G>C (p.Glu571Gln) | |
16 | g.28900902G>T | CA395411568 | ATP2A1 | c.2086G>T (p.Glu696Ter) c.1711G>T (p.Glu571Ter) | |
16 | g.28900903A>C | CA395411571 | ATP2A1 | c.2087A>C (p.Glu696Ala) c.1712A>C (p.Glu571Ala) | |
16 | g.28900903A>G | CA395411572 | ATP2A1 | c.2087A>G (p.Glu696Gly) c.1712A>G (p.Glu571Gly) | |
16 | g.28900903A>T | CA395411573 | ATP2A1 | c.2087A>T (p.Glu696Val) c.1712A>T (p.Glu571Val) | |
16 | g.28900904G>A | CA279240526 | ATP2A1 | c.2088G>A (p.Glu696=) c.1713G>A (p.Glu571=) | dbSNP |
16 | g.28900904G>C | CA395411574 | ATP2A1 | c.2088G>C (p.Glu696Asp) c.1713G>C (p.Glu571Asp) | |
16 | g.28900904G= | CA2215885469 | ATP2A1 | c.2088G= (p.Glu696=) c.1713G= (p.Glu571=) | |
16 | g.28900904G>T | CA395411575 | ATP2A1 | c.2088G>T (p.Glu696Asp) c.1713G>T (p.Glu571Asp) | |
16 | g.28900905A>C | CA395411576 | ATP2A1 | c.2089A>C (p.Ile697Leu) c.1714A>C (p.Ile572Leu) | COSMIC |
16 | g.28900905A>G | CA395411577 | ATP2A1 | c.2089A>G (p.Ile697Val) c.1714A>G (p.Ile572Val) | ClinVar |
16 | g.28900905A>T | CA395411578 | ATP2A1 | c.2089A>T (p.Ile697Phe) c.1714A>T (p.Ile572Phe) | |
16 | g.28900906T>A | CA395411579 | ATP2A1 | c.2090T>A (p.Ile697Asn) c.1715T>A (p.Ile572Asn) | |
16 | g.28900906T>C | CA395411581 | ATP2A1 | c.2090T>C (p.Ile697Thr) c.1715T>C (p.Ile572Thr) | |
16 | g.28900906T>G | CA395411584 | ATP2A1 | c.2090T>G (p.Ile697Ser) c.1715T>G (p.Ile572Ser) | |
16 | g.28900907C>A | CA494874285 | ATP2A1 | c.2091C>A (p.Ile697=) c.1716C>A (p.Ile572=) | |
16 | g.28900907C= | CA2215885472 | ATP2A1 | c.2091C= (p.Ile697=) c.1716C= (p.Ile572=) | |
16 | g.28900907C>G | CA10643416 | ATP2A1 | c.2091C>G (p.Ile697Met) c.1716C>G (p.Ile572Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900907C>T | CA494874286 | ATP2A1 | c.2091C>T (p.Ile697=) c.1716C>T (p.Ile572=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900908A>C | CA395411589 | ATP2A1 | c.2092A>C (p.Thr698Pro) c.1717A>C (p.Thr573Pro) | gnomAD v4 |
16 | g.28900908A>G | CA395411588 | ATP2A1 | c.2092A>G (p.Thr698Ala) c.1717A>G (p.Thr573Ala) | gnomAD v4 |
16 | g.28900908A>T | CA395411586 | ATP2A1 | c.2092A>T (p.Thr698Ser) c.1717A>T (p.Thr573Ser) | |
16 | g.28900909C>A | CA395411591 | ATP2A1 | c.2093C>A (p.Thr698Lys) c.1718C>A (p.Thr573Lys) | |
16 | g.28900909C>G | CA395411593 | ATP2A1 | c.2093C>G (p.Thr698Arg) c.1718C>G (p.Thr573Arg) | |
16 | g.28900909C>T | CA395411595 | ATP2A1 | c.2093C>T (p.Thr698Ile) c.1718C>T (p.Thr573Ile) | |
16 | g.28900910A>C | CA494874287 | ATP2A1 | c.2094A>C (p.Thr698=) c.1719A>C (p.Thr573=) | |
16 | g.28900910A>G | CA494874288 | ATP2A1 | c.2094A>G (p.Thr698=) c.1719A>G (p.Thr573=) | gnomAD v4 |
16 | g.28900910A>T | CA494874289 | ATP2A1 | c.2094A>T (p.Thr698=) c.1719A>T (p.Thr573=) | |
16 | g.28900911G>A | CA395411597 | ATP2A1 | c.2095G>A (p.Ala699Thr) c.1720G>A (p.Ala574Thr) | |
16 | g.28900911G>C | CA395411599 | ATP2A1 | c.2095G>C (p.Ala699Pro) c.1720G>C (p.Ala574Pro) | |
16 | g.28900911G>T | CA395411601 | ATP2A1 | c.2095G>T (p.Ala699Ser) c.1720G>T (p.Ala574Ser) | gnomAD v4 |
16 | g.28900912C>A | CA395411604 | ATP2A1 | c.2096C>A (p.Ala699Asp) c.1721C>A (p.Ala574Asp) | |
16 | g.28900912C>G | CA395411606 | ATP2A1 | c.2096C>G (p.Ala699Gly) c.1721C>G (p.Ala574Gly) | |
16 | g.28900912C>T | CA395411608 | ATP2A1 | c.2096C>T (p.Ala699Val) c.1721C>T (p.Ala574Val) | |
16 | g.28900913C>A | CA494874290 | ATP2A1 | c.2097C>A (p.Ala699=) c.1722C>A (p.Ala574=) | |
16 | g.28900913C>G | CA494874292 | ATP2A1 | c.2097C>G (p.Ala699=) c.1722C>G (p.Ala574=) | |
16 | g.28900913C>T | CA494874291 | ATP2A1 | c.2097C>T (p.Ala699=) c.1722C>T (p.Ala574=) | |
16 | g.28900914A= | CA2215885479 | ATP2A1 | c.2098A= (p.Met700=) c.1723A= (p.Met575=) | |
16 | g.28900914A>C | CA395411610 | ATP2A1 | c.2098A>C (p.Met700Leu) c.1723A>C (p.Met575Leu) | |
16 | g.28900914A>G | CA7987162 | ATP2A1 | c.2098A>G (p.Met700Val) c.1723A>G (p.Met575Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900914A>T | CA395411612 | ATP2A1 | c.2098A>T (p.Met700Leu) c.1723A>T (p.Met575Leu) | |
16 | g.28900915T>A | CA395411618 | ATP2A1 | c.2099T>A (p.Met700Lys) c.1724T>A (p.Met575Lys) | |
16 | g.28900915T>C | CA395411617 | ATP2A1 | c.2099T>C (p.Met700Thr) c.1724T>C (p.Met575Thr) | gnomAD v4 |
16 | g.28900915T>G | CA395411615 | ATP2A1 | c.2099T>G (p.Met700Arg) c.1724T>G (p.Met575Arg) | |
16 | g.28900916G>A | CA395411621 | ATP2A1 | c.2100G>A (p.Met700Ile) c.1725G>A (p.Met575Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900916G>C | CA395411622 | ATP2A1 | c.2100G>C (p.Met700Ile) c.1725G>C (p.Met575Ile) | |
16 | g.28900916G= | CA2215885482 | ATP2A1 | c.2100G= (p.Met700=) c.1725G= (p.Met575=) | |
16 | g.28900916G>T | CA395411625 | ATP2A1 | c.2100G>T (p.Met700Ile) c.1725G>T (p.Met575Ile) | |
16 | g.28900917G>A | CA395411627 | ATP2A1 | c.2100+1G>A (n.2100+1G>A) c.1725+1G>A (n.1725+1G>A) | gnomAD v4 |
16 | g.28900917G>C | CA395411628 | ATP2A1 | c.2100+1G>C (n.2100+1G>C) c.1725+1G>C (n.1725+1G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900917G= | CA2215885488 | ATP2A1 | c.2100+1G= (n.2100+1G=) c.1725+1G= (n.1725+1G=) | |
16 | g.28900917G>T | CA395411631 | ATP2A1 | c.2100+1G>T (n.2100+1G>T) c.1725+1G>T (n.1725+1G>T) | |
16 | g.28900918T>A | CA395411632 | ATP2A1 | c.2100+2T>A (n.2100+2T>A) c.1725+2T>A (n.1725+2T>A) | |
16 | g.28900918T>C | CA395411633 | ATP2A1 | c.2100+2T>C (n.2100+2T>C) c.1725+2T>C (n.1725+2T>C) | |
16 | g.28900918T>G | CA395411635 | ATP2A1 | c.2100+2T>G (n.2100+2T>G) c.1725+2T>G (n.1725+2T>G) | |
16 | g.28900920A= | CA2215885492 | ATP2A1 | c.2100+4A= (n.2100+4A=) c.1725+4A= (n.1725+4A=) | |
16 | g.28900920A>C | CA976148062 | ATP2A1 | c.2100+4A>C (n.2100+4A>C) c.1725+4A>C (n.1725+4A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900925del | CA2575960522 | ATP2A1 | c.2100+9del (n.2100+9del) c.1725+9del (n.1725+9del) | |
16 | g.28900925G>A | CA7987163 | ATP2A1 | c.2100+9G>A (n.2100+9G>A) c.1725+9G>A (n.1725+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900925G>C | CA2731885701 | ATP2A1 | c.2100+9G>C (n.2100+9G>C) c.1725+9G>C (n.1725+9G>C) | dbSNP |
16 | g.28900925G= | CA2215885495 | ATP2A1 | c.2100+9G= (n.2100+9G=) c.1725+9G= (n.1725+9G=) | |
16 | g.28900926C>T | CA2632540142 | ATP2A1 | c.2100+10C>T (n.2100+10C>T) c.1725+10C>T (n.1725+10C>T) | gnomAD v4 |
16 | g.28900928dup | CA2632540143 | ATP2A1 | c.2100+12dup (n.2100+12dup) c.1725+12dup (n.1725+12dup) | gnomAD v4 |
16 | g.28900928C>A | CA2573152282 | ATP2A1 | c.2100+12C>A (n.2100+12C>A) c.1725+12C>A (n.1725+12C>A) | ClinVar dbSNP |
16 | g.28900928C>T | CA2632540144 | ATP2A1 | c.2100+12C>T (n.2100+12C>T) c.1725+12C>T (n.1725+12C>T) | gnomAD v4 |
16 | g.28900929A= | CA2215885503 | ATP2A1 | c.2100+13A= (n.2100+13A=) c.1725+13A= (n.1725+13A=) | |
16 | g.28900929A>G | CA2215885506 | ATP2A1 | c.2100+13A>G (n.2100+13A>G) c.1725+13A>G (n.1725+13A>G) | dbSNP |
16 | g.28900929_28900930delinsAG | CA2215885499 | ATP2A1 | c.2100+13_2100+14delinsAG (n.2100+13_2100+14delinsAG) c.1725+13_1725+14delinsAG (n.1725+13_1725+14delinsAG) | |
16 | g.28900930G>A | CA7987165 | ATP2A1 | c.2100+14G>A (n.2100+14G>A) c.1725+14G>A (n.1725+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900930G= | CA2215885511 | ATP2A1 | c.2100+14G= (n.2100+14G=) c.1725+14G= (n.1725+14G=) | |
16 | g.28900931del | CA7987164 | ATP2A1 | c.2100+15del (n.2100+15del) c.1725+15del (n.1725+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900930_28900935del | CA2632540148 | ATP2A1 | c.2100+14_2100+19del (n.2100+14_2100+19del) c.1725+14_1725+19del (n.1725+14_1725+19del) | gnomAD v4 |
16 | g.28900931G>A | CA2215885515 | ATP2A1 | c.2100+15G>A (n.2100+15G>A) c.1725+15G>A (n.1725+15G>A) | dbSNP |
16 | g.28900931G= | CA2215885512 | ATP2A1 | c.2100+15G= (n.2100+15G=) c.1725+15G= (n.1725+15G=) | |
16 | g.28900932C>A | CA7987166 | ATP2A1 | c.2100+16C>A (n.2100+16C>A) c.1725+16C>A (n.1725+16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900932C= | CA2215885517 | ATP2A1 | c.2100+16C= (n.2100+16C=) c.1725+16C= (n.1725+16C=) | |
16 | g.28900933A>C | CA2632540152 | ATP2A1 | c.2100+17A>C (n.2100+17A>C) c.1725+17A>C (n.1725+17A>C) | gnomAD v4 |
16 | g.28900934G>A | CA2632540153 | ATP2A1 | c.2100+18G>A (n.2100+18G>A) c.1725+18G>A (n.1725+18G>A) | gnomAD v4 |
16 | g.28900936T>C | CA2632540156 | ATP2A1 | c.2100+20T>C (n.2100+20T>C) c.1725+20T>C (n.1725+20T>C) | gnomAD v4 |
16 | g.28900937G>A | CA622162496 | ATP2A1 | c.2100+21G>A (n.2100+21G>A) c.1725+21G>A (n.1725+21G>A) | dbSNP gnomAD v2 |
16 | g.28900937G= | CA2215885519 | ATP2A1 | c.2100+21G= (n.2100+21G=) c.1725+21G= (n.1725+21G=) | |
16 | g.28900937_28900941del | CA2632540157 | ATP2A1 | c.2100+21_2100+25del (n.2100+21_2100+25del) c.1725+21_1725+25del (n.1725+21_1725+25del) | gnomAD v4 |
16 | g.28900938C= | CA2215885523 | ATP2A1 | c.2100+22C= (n.2100+22C=) c.1725+22C= (n.1725+22C=) | |
16 | g.28900938C>T | CA7987167 | ATP2A1 | c.2100+22C>T (n.2100+22C>T) c.1725+22C>T (n.1725+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900939A= | CA2215885526 | ATP2A1 | c.2100+23A= (n.2100+23A=) c.1725+23A= (n.1725+23A=) | |
16 | g.28900939A>C | CA2215885527 | ATP2A1 | c.2100+23A>C (n.2100+23A>C) c.1725+23A>C (n.1725+23A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900939A>G | CA2632540159 | ATP2A1 | c.2100+23A>G (n.2100+23A>G) c.1725+23A>G (n.1725+23A>G) | gnomAD v4 |
16 | g.28900942C= | CA2215885530 | ATP2A1 | c.2100+26C= (n.2100+26C=) c.1725+26C= (n.1725+26C=) | |
16 | g.28900942C>G | CA2575960523 | ATP2A1 | c.2100+26C>G (n.2100+26C>G) c.1725+26C>G (n.1725+26C>G) | gnomAD v4 |
16 | g.28900942C>T | CA622162497 | ATP2A1 | c.2100+26C>T (n.2100+26C>T) c.1725+26C>T (n.1725+26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900943T>A | CA2632540163 | ATP2A1 | c.2100+27T>A (n.2100+27T>A) c.1725+27T>A (n.1725+27T>A) | gnomAD v4 |
16 | g.28900943T>C | CA2632540164 | ATP2A1 | c.2100+27T>C (n.2100+27T>C) c.1725+27T>C (n.1725+27T>C) | gnomAD v4 |
16 | g.28900945A= | CA2215885536 | ATP2A1 | c.2100+29A= (n.2100+29A=) c.1725+29A= (n.1725+29A=) | |
16 | g.28900945A>C | CA976148071 | ATP2A1 | c.2100+29A>C (n.2100+29A>C) c.1725+29A>C (n.1725+29A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900945_28900947delinsAGT | CA2215885539 | ATP2A1 | c.2100+29_2100+31delinsAGT (n.2100+29_2100+31delinsAGT) c.1725+29_1725+31delinsAGT (n.1725+29_1725+31delinsAGT) | |
16 | g.28900948_28900949del | CA2215885544 | ATP2A1 | c.2100+32_2100+33del (n.2100+32_2100+33del) c.1725+32_1725+33del (n.1725+32_1725+33del) | dbSNP |
16 | g.28900947T>A | CA2215885549 | ATP2A1 | c.2100+31T>A (n.2100+31T>A) c.1725+31T>A (n.1725+31T>A) | dbSNP |
16 | g.28900947T>C | CA7987168 | ATP2A1 | c.2100+31T>C (n.2100+31T>C) c.1725+31T>C (n.1725+31T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900947T= | CA2215885547 | ATP2A1 | c.2100+31T= (n.2100+31T=) c.1725+31T= (n.1725+31T=) | |
16 | g.28900949T>C | CA279240579 | ATP2A1 | c.2100+33T>C (n.2100+33T>C) c.1725+33T>C (n.1725+33T>C) | dbSNP |
16 | g.28900949T= | CA2215885559 | ATP2A1 | c.2100+33T= (n.2100+33T=) c.1725+33T= (n.1725+33T=) | |
16 | g.28900949_28900950delinsTC | CA2215885557 | ATP2A1 | c.2100+33_2100+34delinsTC (n.2100+33_2100+34delinsTC) c.1725+33_1725+34delinsTC (n.1725+33_1725+34delinsTC) | |
16 | g.28900950C>T | CA2575960524 | ATP2A1 | c.2100+34C>T (n.2100+34C>T) c.1725+34C>T (n.1725+34C>T) | |
16 | g.28900951del | CA7987169 | ATP2A1 | c.2100+35del (n.2100+35del) c.1725+35del (n.1725+35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900953C= | CA2215885569 | ATP2A1 | c.2100+37C= (n.2100+37C=) c.1725+37C= (n.1725+37C=) | |
16 | g.28900953C>T | CA7987170 | ATP2A1 | c.2100+37C>T (n.2100+37C>T) c.1725+37C>T (n.1725+37C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900954G>A | CA7987171 | ATP2A1 | c.2100+38G>A (n.2100+38G>A) c.1725+38G>A (n.1725+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900954G= | CA2215885572 | ATP2A1 | c.2100+38G= (n.2100+38G=) c.1725+38G= (n.1725+38G=) | |
16 | g.28900955G>A | CA622162498 | ATP2A1 | c.2100+39G>A (n.2100+39G>A) c.1725+39G>A (n.1725+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900955G= | CA2215885578 | ATP2A1 | c.2100+39G= (n.2100+39G=) c.1725+39G= (n.1725+39G=) | |
16 | g.28900957G>A | CA976148084 | ATP2A1 | c.2100+41G>A (n.2100+41G>A) c.1725+41G>A (n.1725+41G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900957G= | CA2215885580 | ATP2A1 | c.2100+41G= (n.2100+41G=) c.1725+41G= (n.1725+41G=) | |
16 | g.28900958A= | CA2215885583 | ATP2A1 | c.2100+42A= (n.2100+42A=) c.1725+42A= (n.1725+42A=) | |
16 | g.28900958A>G | CA976148085 | ATP2A1 | c.2100+42A>G (n.2100+42A>G) c.1725+42A>G (n.1725+42A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900959T>A | CA2806424057 | ATP2A1 | c.2100+43T>A (n.2100+43T>A) c.1725+43T>A (n.1725+43T>A) | |
16 | g.28900959T>G | CA2632540185 | ATP2A1 | c.2100+43T>G (n.2100+43T>G) c.1725+43T>G (n.1725+43T>G) | gnomAD v4 |
16 | g.28900960G>A | CA2632540188 | ATP2A1 | c.2100+44G>A (n.2100+44G>A) c.1725+44G>A (n.1725+44G>A) | gnomAD v4 |
16 | g.28900961A>G | CA2632540189 | ATP2A1 | c.2100+45A>G (n.2100+45A>G) c.1725+45A>G (n.1725+45A>G) | gnomAD v4 |
16 | g.28900962C= | CA2215885585 | ATP2A1 | c.2100+46C= (n.2100+46C=) c.1725+46C= (n.1725+46C=) | |
16 | g.28900962C>T | CA7987172 | ATP2A1 | c.2100+46C>T (n.2100+46C>T) c.1725+46C>T (n.1725+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900964A>G | CA2593660195 | ATP2A1 | c.2100+48A>G (n.2100+48A>G) c.1725+48A>G (n.1725+48A>G) | gnomAD v3 gnomAD v4 |
16 | g.28900965G>A | CA279240600 | ATP2A1 | c.2100+49G>A (n.2100+49G>A) c.1725+49G>A (n.1725+49G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900965G= | CA2215885588 | ATP2A1 | c.2100+49G= (n.2100+49G=) c.1725+49G= (n.1725+49G=) | |
16 | g.28900966A>C | CA2632540194 | ATP2A1 | c.2100+50A>C (n.2100+50A>C) c.1725+50A>C (n.1725+50A>C) | gnomAD v4 |
16 | g.28900968G>A | CA2632540195 | ATP2A1 | c.2100+52G>A (n.2100+52G>A) c.1725+52G>A (n.1725+52G>A) | gnomAD v4 |
16 | g.28900970C>T | CA2632540197 | ATP2A1 | c.2100+54C>T (n.2100+54C>T) c.1725+54C>T (n.1725+54C>T) | gnomAD v4 |
16 | g.28900972G>A | CA2632540199 | ATP2A1 | c.2100+56G>A (n.2100+56G>A) c.1725+56G>A (n.1725+56G>A) | gnomAD v4 |
16 | g.28900972G= | CA2215885593 | ATP2A1 | c.2100+56G= (n.2100+56G=) c.1725+56G= (n.1725+56G=) | |
16 | g.28900972G>T | CA2215885594 | ATP2A1 | c.2100+56G>T (n.2100+56G>T) c.1725+56G>T (n.1725+56G>T) | dbSNP |
16 | g.28900973T>C | CA2632540202 | ATP2A1 | c.2100+57T>C (n.2100+57T>C) c.1725+57T>C (n.1725+57T>C) | gnomAD v4 |
16 | g.28900973T>G | CA2632540204 | ATP2A1 | c.2100+57T>G (n.2100+57T>G) c.1725+57T>G (n.1725+57T>G) | gnomAD v4 |
16 | g.28900974G>T | CA2632540205 | ATP2A1 | c.2100+58G>T (n.2100+58G>T) c.1725+58G>T (n.1725+58G>T) | gnomAD v4 |
16 | g.28900975C>A | CA2632540207 | ATP2A1 | c.2100+59C>A (n.2100+59C>A) c.1725+59C>A (n.1725+59C>A) | gnomAD v4 |
16 | g.28900975C= | CA2215885597 | ATP2A1 | c.2100+59C= (n.2100+59C=) c.1725+59C= (n.1725+59C=) | |
16 | g.28900975C>G | CA2632540208 | ATP2A1 | c.2100+59C>G (n.2100+59C>G) c.1725+59C>G (n.1725+59C>G) | gnomAD v4 |
16 | g.28900975C>T | CA2215885600 | ATP2A1 | c.2100+59C>T (n.2100+59C>T) c.1725+59C>T (n.1725+59C>T) | dbSNP gnomAD v4 |
16 | g.28900977G>A | CA279240612 | ATP2A1 | c.2100+61G>A (n.2100+61G>A) c.1725+61G>A (n.1725+61G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900977G= | CA2215885605 | ATP2A1 | c.2100+61G= (n.2100+61G=) c.1725+61G= (n.1725+61G=) | |
16 | g.28900980del | CA2632540212 | ATP2A1 | c.2100+64del (n.2100+64del) c.1725+64del (n.1725+64del) | gnomAD v4 |
16 | g.28900979G>A | CA2632540213 | ATP2A1 | c.2100+63G>A (n.2100+63G>A) c.1725+63G>A (n.1725+63G>A) | gnomAD v4 |
16 | g.28900979G>C | CA2806424058 | ATP2A1 | c.2100+63G>C (n.2100+63G>C) c.1725+63G>C (n.1725+63G>C) | |
16 | g.28900979_28900980insT | CA2806424059 | ATP2A1 | c.2100+63_2100+64insT (n.2100+63_2100+64insT) c.1725+63_1725+64insT (n.1725+63_1725+64insT) | |
16 | g.28900980G>A | CA279240617 | ATP2A1 | c.2100+64G>A (n.2100+64G>A) c.1725+64G>A (n.1725+64G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900980G= | CA2215885608 | ATP2A1 | c.2100+64G= (n.2100+64G=) c.1725+64G= (n.1725+64G=) | |
16 | g.28900980G>T | CA2632540218 | ATP2A1 | c.2100+64G>T (n.2100+64G>T) c.1725+64G>T (n.1725+64G>T) | gnomAD v4 |
16 | g.28900981A>T | CA2806424060 | ATP2A1 | c.2100+65A>T (n.2100+65A>T) c.1725+65A>T (n.1725+65A>T) | |
16 | g.28900982G= | CA2215885611 | ATP2A1 | c.2100+66G= (n.2100+66G=) c.1725+66G= (n.1725+66G=) | |
16 | g.28900982G>T | CA622162499 | ATP2A1 | c.2100+66G>T (n.2100+66G>T) c.1725+66G>T (n.1725+66G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900983A>G | CA2632540220 | ATP2A1 | c.2100+67A>G (n.2100+67A>G) c.1725+67A>G (n.1725+67A>G) | gnomAD v4 |
16 | g.28900983A>T | CA2632540222 | ATP2A1 | c.2100+67A>T (n.2100+67A>T) c.1725+67A>T (n.1725+67A>T) | gnomAD v4 |
16 | g.28900984G>A | CA279240624 | ATP2A1 | c.2100+68G>A (n.2100+68G>A) c.1725+68G>A (n.1725+68G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900984G= | CA2215885614 | ATP2A1 | c.2100+68G= (n.2100+68G=) c.1725+68G= (n.1725+68G=) | |
16 | g.28900984G>T | CA2806424061 | ATP2A1 | c.2100+68G>T (n.2100+68G>T) c.1725+68G>T (n.1725+68G>T) | |
16 | g.28900985T>G | CA976148093 | ATP2A1 | c.2100+69T>G (n.2100+69T>G) c.1725+69T>G (n.1725+69T>G) | gnomAD v3 gnomAD v4 |
16 | g.28900985T= | CA2215885618 | ATP2A1 | c.2100+69T= (n.2100+69T=) c.1725+69T= (n.1725+69T=) | |
16 | g.28900986G>C | CA2575960525 | ATP2A1 | c.2100+70G>C (n.2100+70G>C) c.1725+70G>C (n.1725+70G>C) | gnomAD v4 |
16 | g.28900986G>T | CA2632540229 | ATP2A1 | c.2100+70G>T (n.2100+70G>T) c.1725+70G>T (n.1725+70G>T) | gnomAD v4 |
16 | g.28900986_28901000dup | CA719740579 | ATP2A1 | c.2100+70_2100+84dup (n.2100+70_2100+84dup) c.1725+70_1725+84dup (n.1725+70_1725+84dup) | dbSNP |
16 | g.28900986_28901001delinsGGGGCCCAGGGCCAGA | CA2215885622 | ATP2A1 | c.2100+70_2100+85delinsGGGGCCCAGGGCCAGA (n.2100+70_2100+85delinsGGGGCCCAGGGCCAGA) c.1725+70_1725+85delinsGGGGCCCAGGGCCAGA (n.1725+70_1725+85delinsGGGGCCCAGGGCCAGA) |