Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900556G>A | CA2632539698 | ATP2A1 | c.1765-25G>A (n.1765-25G>A) c.1390-25G>A (n.1390-25G>A) c.794-25G>A | gnomAD v4 |
16 | g.28900556G>T | CA2632539701 | ATP2A1 | c.1765-25G>T (n.1765-25G>T) c.1390-25G>T (n.1390-25G>T) c.794-25G>T | gnomAD v4 |
16 | g.28900556_28900557insGA | CA2732138538 | ATP2A1 | c.1765-25_1765-24insGA (n.1765-25_1765-24insGA) c.1390-25_1390-24insGA (n.1390-25_1390-24insGA) c.794-25_794-24insGA | dbSNP |
16 | g.28900557T>C | CA2575960504 | ATP2A1 | c.1765-24T>C (n.1765-24T>C) c.1390-24T>C (n.1390-24T>C) c.794-24T>C | |
16 | g.28900557T>G | CA2575960505 | ATP2A1 | c.1765-24T>G (n.1765-24T>G) c.1390-24T>G (n.1390-24T>G) c.794-24T>G | |
16 | g.28900558G>T | CA2632539706 | ATP2A1 | c.1765-23G>T (n.1765-23G>T) c.1390-23G>T (n.1390-23G>T) c.794-23G>T | gnomAD v4 |
16 | g.28900559G>A | CA2632539709 | ATP2A1 | c.1765-22G>A (n.1765-22G>A) c.1390-22G>A (n.1390-22G>A) c.794-22G>A | gnomAD v4 |
16 | g.28900559G>T | CA2632539710 | ATP2A1 | c.1765-22G>T (n.1765-22G>T) c.1390-22G>T (n.1390-22G>T) c.794-22G>T | gnomAD v4 |
16 | g.28900559_28900561delinsGCT | CA2215884172 | ATP2A1 | c.1765-22_1765-20delinsGCT (n.1765-22_1765-20delinsGCT) c.1390-22_1390-20delinsGCT (n.1390-22_1390-20delinsGCT) c.794-22_794-20delinsGCT | |
16 | g.28900560C= | CA2215884177 | ATP2A1 | c.1765-21C= (n.1765-21C=) c.1390-21C= (n.1390-21C=) c.794-21C= | |
16 | g.28900560C>G | CA2215884180 | ATP2A1 | c.1765-21C>G (n.1765-21C>G) c.1390-21C>G (n.1390-21C>G) c.794-21C>G | dbSNP |
16 | g.28900560C>T | CA2632539712 | ATP2A1 | c.1765-21C>T (n.1765-21C>T) c.1390-21C>T (n.1390-21C>T) c.794-21C>T | gnomAD v4 |
16 | g.28900564_28900565del | CA719739897 | ATP2A1 | c.1765-17_1765-16del (n.1765-17_1765-16del) c.1390-17_1390-16del (n.1390-17_1390-16del) c.794-17_794-16del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900561T>A | CA279239969 | ATP2A1 | c.1765-20T>A (n.1765-20T>A) c.1390-20T>A (n.1390-20T>A) c.794-20T>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900561T>C | CA2632539714 | ATP2A1 | c.1765-20T>C (n.1765-20T>C) c.1390-20T>C (n.1390-20T>C) c.794-20T>C | gnomAD v4 |
16 | g.28900561T= | CA2215884184 | ATP2A1 | c.1765-20T= (n.1765-20T=) c.1390-20T= (n.1390-20T=) c.794-20T= | |
16 | g.28900562C>A | CA2632539716 | ATP2A1 | c.1765-19C>A (n.1765-19C>A) c.1390-19C>A (n.1390-19C>A) c.794-19C>A | gnomAD v4 |
16 | g.28900563T>C | CA2569192021 | ATP2A1 | c.1765-18T>C (n.1765-18T>C) c.1390-18T>C (n.1390-18T>C) c.794-18T>C | gnomAD v4 |
16 | g.28900563_28900564insA | CA2732138539 | ATP2A1 | c.1765-18_1765-17insA (n.1765-18_1765-17insA) c.1390-18_1390-17insA (n.1390-18_1390-17insA) c.794-18_794-17insA | dbSNP |
16 | g.28900564C>A | CA2632539719 | ATP2A1 | c.1765-17C>A (n.1765-17C>A) c.1390-17C>A (n.1390-17C>A) c.794-17C>A | gnomAD v4 |
16 | g.28900564C>G | CA2632539721 | ATP2A1 | c.1765-17C>G (n.1765-17C>G) c.1390-17C>G (n.1390-17C>G) c.794-17C>G | gnomAD v4 |
16 | g.28900564_28900565insCAAGTTCA | CA2732138541 | ATP2A1 | c.1765-17_1765-16insCAAGTTCA (n.1765-17_1765-16insCAAGTTCA) c.1390-17_1390-16insCAAGTTCA (n.1390-17_1390-16insCAAGTTCA) c.794-17_794-16insCAAGTTCA | dbSNP |
16 | g.28900566G>A | CA2632539722 | ATP2A1 | c.1765-15G>A (n.1765-15G>A) c.1390-15G>A (n.1390-15G>A) c.794-15G>A | gnomAD v4 |
16 | g.28900566G>T | CA2632539724 | ATP2A1 | c.1765-15G>T (n.1765-15G>T) c.1390-15G>T (n.1390-15G>T) c.794-15G>T | gnomAD v4 |
16 | g.28900567C>A | CA2215884191 | ATP2A1 | c.1765-14C>A (n.1765-14C>A) c.1390-14C>A (n.1390-14C>A) c.794-14C>A | dbSNP gnomAD v4 |
16 | g.28900567C= | CA2215884188 | ATP2A1 | c.1765-14C= (n.1765-14C=) c.1390-14C= (n.1390-14C=) c.794-14C= | |
16 | g.28900567C>G | CA2731904219 | ATP2A1 | c.1765-14C>G (n.1765-14C>G) c.1390-14C>G (n.1390-14C>G) c.794-14C>G | dbSNP |
16 | g.28900567C>T | CA621792659 | ATP2A1 | c.1765-14C>T (n.1765-14C>T) c.1390-14C>T (n.1390-14C>T) c.794-14C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900568T>A | CA2731886977 | ATP2A1 | c.1765-13T>A (n.1765-13T>A) c.1390-13T>A (n.1390-13T>A) c.794-13T>A | dbSNP |
16 | g.28900568T>C | CA621792662 | ATP2A1 | c.1765-13T>C (n.1765-13T>C) c.1390-13T>C (n.1390-13T>C) c.794-13T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900568T>G | CA279239973 | ATP2A1 | c.1765-13T>G (n.1765-13T>G) c.1390-13T>G (n.1390-13T>G) c.794-13T>G | dbSNP |
16 | g.28900568T= | CA2215884197 | ATP2A1 | c.1765-13T= (n.1765-13T=) c.1390-13T= (n.1390-13T=) c.794-13T= | |
16 | g.28900569G>A | CA7987075 | ATP2A1 | c.1765-12G>A (n.1765-12G>A) c.1390-12G>A (n.1390-12G>A) c.794-12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900569G>C | CA7987076 | ATP2A1 | c.1765-12G>C (n.1765-12G>C) c.1390-12G>C (n.1390-12G>C) c.794-12G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900569G= | CA2215884207 | ATP2A1 | c.1765-12G= (n.1765-12G=) c.1390-12G= (n.1390-12G=) c.794-12G= | |
16 | g.28900569G>T | CA2632539734 | ATP2A1 | c.1765-12G>T (n.1765-12G>T) c.1390-12G>T (n.1390-12G>T) c.794-12G>T | gnomAD v4 |
16 | g.28900570T>C | CA2632539737 | ATP2A1 | c.1765-11T>C (n.1765-11T>C) c.1390-11T>C (n.1390-11T>C) c.794-11T>C | gnomAD v4 |
16 | g.28900570dup | CA621792667 | ATP2A1 | c.1765-11dup (n.1765-11dup) c.1390-11dup (n.1390-11dup) c.794-11dup | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900570_28900571insCC | CA2632539739 | ATP2A1 | c.1765-11_1765-10insCC (n.1765-11_1765-10insCC) c.1390-11_1390-10insCC (n.1390-11_1390-10insCC) c.794-11_794-10insCC | gnomAD v4 |
16 | g.28900571A= | CA2215884216 | ATP2A1 | c.1765-10A= (n.1765-10A=) c.1390-10A= (n.1390-10A=) c.794-10A= | |
16 | g.28900571A>G | CA7987077 | ATP2A1 | c.1765-10A>G (n.1765-10A>G) c.1390-10A>G (n.1390-10A>G) c.794-10A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900572T>A | CA2215884223 | ATP2A1 | c.1765-9T>A (n.1765-9T>A) c.1390-9T>A (n.1390-9T>A) c.794-9T>A | dbSNP |
16 | g.28900572T= | CA2215884221 | ATP2A1 | c.1765-9T= (n.1765-9T=) c.1390-9T= (n.1390-9T=) c.794-9T= | |
16 | g.28900572_28900576del | CA2732138543 | ATP2A1 | c.1765-9_1765-5del (n.1765-9_1765-5del) c.1390-9_1390-5del (n.1390-9_1390-5del) c.794-9_794-5del | dbSNP |
16 | g.28900574del | CA2575960506 | ATP2A1 | c.1765-7del (n.1765-7del) c.1390-7del (n.1390-7del) c.794-7del | |
16 | g.28900574T>C | CA2632539744 | ATP2A1 | c.1765-7T>C (n.1765-7T>C) c.1390-7T>C (n.1390-7T>C) c.794-7T>C | gnomAD v4 |
16 | g.28900575C>A | CA2632539745 | ATP2A1 | c.1765-6C>A (n.1765-6C>A) c.1390-6C>A (n.1390-6C>A) c.794-6C>A | gnomAD v4 |
16 | g.28900575C= | CA2215884232 | ATP2A1 | c.1765-6C= (n.1765-6C=) c.1390-6C= (n.1390-6C=) c.794-6C= | |
16 | g.28900575C>T | CA621792670 | ATP2A1 | c.1765-6C>T (n.1765-6C>T) c.1390-6C>T (n.1390-6C>T) c.794-6C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900578del | CA2806424055 | ATP2A1 | c.1765-3del (n.1765-3del) c.1390-3del (n.1390-3del) c.794-3del | |
16 | g.28900576C>A | CA2632539747 | ATP2A1 | c.1765-5C>A (n.1765-5C>A) c.1390-5C>A (n.1390-5C>A) c.794-5C>A | gnomAD v4 |
16 | g.28900577C>A | CA2632539751 | ATP2A1 | c.1765-4C>A (n.1765-4C>A) c.1390-4C>A (n.1390-4C>A) c.794-4C>A | gnomAD v4 |
16 | g.28900577C= | CA2215884245 | ATP2A1 | c.1765-4C= (n.1765-4C=) c.1390-4C= (n.1390-4C=) c.794-4C= | |
16 | g.28900577C>G | CA7987078 | ATP2A1 | c.1765-4C>G (n.1765-4C>G) c.1390-4C>G (n.1390-4C>G) c.794-4C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900578C>A | CA2632539758 | ATP2A1 | c.1765-3C>A (n.1765-3C>A) c.1390-3C>A (n.1390-3C>A) c.794-3C>A | gnomAD v4 |
16 | g.28900578C>G | CA2732138548 | ATP2A1 | c.1765-3C>G (n.1765-3C>G) c.1390-3C>G (n.1390-3C>G) c.794-3C>G | dbSNP |
16 | g.28900578C>T | CA2503425678 | ATP2A1 | c.1765-3C>T (n.1765-3C>T) c.1390-3C>T (n.1390-3C>T) c.794-3C>T | |
16 | g.28900579A>C | CA395410828 | ATP2A1 | c.1765-2A>C (n.1765-2A>C) c.1390-2A>C (n.1390-2A>C) c.794-2A>C | |
16 | g.28900579A>G | CA395410829 | ATP2A1 | c.1765-2A>G (n.1765-2A>G) c.1390-2A>G (n.1390-2A>G) c.794-2A>G | gnomAD v4 |
16 | g.28900579A>T | CA395410830 | ATP2A1 | c.1765-2A>T (n.1765-2A>T) c.1390-2A>T (n.1390-2A>T) c.794-2A>T | |
16 | g.28900580G>A | CA395410832 | ATP2A1 | c.1765-1G>A (n.1765-1G>A) c.1390-1G>A (n.1390-1G>A) c.794-1G>A | |
16 | g.28900580G>C | CA395410834 | ATP2A1 | c.1765-1G>C (n.1765-1G>C) c.1390-1G>C (n.1390-1G>C) c.794-1G>C | |
16 | g.28900580G>T | CA395410835 | ATP2A1 | c.1765-1G>T (n.1765-1G>T) c.1390-1G>T (n.1390-1G>T) c.794-1G>T | |
16 | g.28900581A= | CA2215884251 | ATP2A1 | c.1765A= (p.Thr589=) c.1390A= (p.Thr464=) c.794A= | |
16 | g.28900581A>C | CA395410837 | ATP2A1 | c.1765A>C (p.Thr589Pro) c.1390A>C (p.Thr464Pro) c.794A>C | |
16 | g.28900581A>G | CA7987079 | ATP2A1 | c.1765A>G (p.Thr589Ala) c.1390A>G (p.Thr464Ala) c.794A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900581A>T | CA395410838 | ATP2A1 | c.1765A>T (p.Thr589Ser) c.1390A>T (p.Thr464Ser) c.794A>T | |
16 | g.28900582C>A | CA395410839 | ATP2A1 | c.1766C>A (p.Thr589Lys) c.1391C>A (p.Thr464Lys) c.795C>A | |
16 | g.28900582C= | CA2215884260 | ATP2A1 | c.1766C= (p.Thr589=) c.1391C= (p.Thr464=) c.795C= | |
16 | g.28900582C>G | CA395410841 | ATP2A1 | c.1766C>G (p.Thr589Arg) c.1391C>G (p.Thr464Arg) c.795C>G | |
16 | g.28900582C>T | CA7987080 | ATP2A1 | c.1766C>T (p.Thr589Met) c.1391C>T (p.Thr464Met) c.795C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900583G>A | CA7987081 | ATP2A1 | c.1767G>A (p.Thr589=) c.1392G>A (p.Thr464=) c.796G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900583G>C | CA494508837 | ATP2A1 | c.1767G>C (p.Thr589=) c.1392G>C (p.Thr464=) c.796G>C | |
16 | g.28900583G= | CA2215884333 | ATP2A1 | c.1767G= (p.Thr589=) c.1392G= (p.Thr464=) c.796G= | |
16 | g.28900583G>T | CA494508834 | ATP2A1 | c.1767G>T (p.Thr589=) c.1392G>T (p.Thr464=) c.796G>T | |
16 | g.28900583_28900584delinsAA | CA645573194 | ATP2A1 | c.1767_1768delinsAA (p.Asp590Asn) c.1392_1393delinsAA (p.Asp465Asn) c.796_797delinsAA | COSMIC |
16 | g.28900584G>A | CA279239993 | ATP2A1 | c.1768G>A (p.Asp590Asn) c.1393G>A (p.Asp465Asn) c.797G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900584G>C | CA395410843 | ATP2A1 | c.1768G>C (p.Asp590His) c.1393G>C (p.Asp465His) c.797G>C | gnomAD v4 |
16 | g.28900584G= | CA2215884351 | ATP2A1 | c.1768G= (p.Asp590=) c.1393G= (p.Asp465=) c.797G= | |
16 | g.28900584G>T | CA395410845 | ATP2A1 | c.1768G>T (p.Asp590Tyr) c.1393G>T (p.Asp465Tyr) c.797G>T | |
16 | g.28900585A>C | CA395410847 | ATP2A1 | c.1769A>C (p.Asp590Ala) c.1394A>C (p.Asp465Ala) c.798A>C | |
16 | g.28900585A>G | CA395410849 | ATP2A1 | c.1769A>G (p.Asp590Gly) c.1394A>G (p.Asp465Gly) c.798A>G | |
16 | g.28900585A>T | CA395410851 | ATP2A1 | c.1769A>T (p.Asp590Val) c.1394A>T (p.Asp465Val) c.798A>T | |
16 | g.28900586C>A | CA395410853 | ATP2A1 | c.1770C>A (p.Asp590Glu) c.1395C>A (p.Asp465Glu) c.799C>A | gnomAD v4 |
16 | g.28900586C>G | CA395410854 | ATP2A1 | c.1770C>G (p.Asp590Glu) c.1395C>G (p.Asp465Glu) c.799C>G | |
16 | g.28900586C>T | CA494508852 | ATP2A1 | c.1770C>T (p.Asp590=) c.1395C>T (p.Asp465=) c.799C>T | gnomAD v4 |
16 | g.28900587C>A | CA395410858 | ATP2A1 | c.1771C>A (p.Leu591Met) c.1396C>A (p.Leu466Met) c.800C>A | |
16 | g.28900587C>G | CA395410857 | ATP2A1 | c.1771C>G (p.Leu591Val) c.1396C>G (p.Leu466Val) c.800C>G | |
16 | g.28900587C>T | CA494508857 | ATP2A1 | c.1771C>T (p.Leu591=) c.1396C>T (p.Leu466=) c.800C>T | dbSNP gnomAD v4 |
16 | g.28900588T>A | CA395410860 | ATP2A1 | c.1772T>A (p.Leu591Gln) c.1397T>A (p.Leu466Gln) c.801T>A | |
16 | g.28900588T>C | CA395410861 | ATP2A1 | c.1772T>C (p.Leu591Pro) c.1397T>C (p.Leu466Pro) c.801T>C | gnomAD v4 |
16 | g.28900588T>G | CA395410862 | ATP2A1 | c.1772T>G (p.Leu591Arg) c.1397T>G (p.Leu466Arg) c.801T>G | |
16 | g.28900589G>A | CA279240004 | ATP2A1 | c.1773G>A (p.Leu591=) c.1398G>A (p.Leu466=) c.802G>A | dbSNP gnomAD v4 |
16 | g.28900589G>C | CA494508861 | ATP2A1 | c.1773G>C (p.Leu591=) c.1398G>C (p.Leu466=) c.802G>C | gnomAD v4 |
16 | g.28900589G= | CA2215884358 | ATP2A1 | c.1773G= (p.Leu591=) c.1398G= (p.Leu466=) c.802G= | |
16 | g.28900589G>T | CA494508863 | ATP2A1 | c.1773G>T (p.Leu591=) c.1398G>T (p.Leu466=) c.802G>T | |
16 | g.28900590A>C | CA395410863 | ATP2A1 | c.1774A>C (p.Thr592Pro) c.1399A>C (p.Thr467Pro) c.803A>C | |
16 | g.28900590A>G | CA395410864 | ATP2A1 | c.1774A>G (p.Thr592Ala) c.1399A>G (p.Thr467Ala) c.803A>G | |
16 | g.28900590A>T | CA395410865 | ATP2A1 | c.1774A>T (p.Thr592Ser) c.1399A>T (p.Thr467Ser) c.803A>T | |
16 | g.28900591C>A | CA395410867 | ATP2A1 | c.1775C>A (p.Thr592Lys) c.1400C>A (p.Thr467Lys) c.804C>A | gnomAD v4 |
16 | g.28900591C= | CA2215884361 | ATP2A1 | c.1775C= (p.Thr592=) c.1400C= (p.Thr467=) c.804C= | |
16 | g.28900591C>G | CA395410869 | ATP2A1 | c.1775C>G (p.Thr592Arg) c.1400C>G (p.Thr467Arg) c.804C>G | dbSNP gnomAD v4 |
16 | g.28900591C>T | CA395410870 | ATP2A1 | c.1775C>T (p.Thr592Ile) c.1400C>T (p.Thr467Ile) c.804C>T | |
16 | g.28900592A= | CA2215884368 | ATP2A1 | c.1776A= (p.Thr592=) c.1401A= (p.Thr467=) c.805A= | |
16 | g.28900592A>C | CA494508884 | ATP2A1 | c.1776A>C (p.Thr592=) c.1401A>C (p.Thr467=) c.805A>C | gnomAD v4 |
16 | g.28900592A>G | CA7987082 | ATP2A1 | c.1776A>G (p.Thr592=) c.1401A>G (p.Thr467=) c.805A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900592A>T | CA494508888 | ATP2A1 | c.1776A>T (p.Thr592=) c.1401A>T (p.Thr467=) c.805A>T | |
16 | g.28900593T>A | CA395410874 | ATP2A1 | c.1777T>A (p.Phe593Ile) c.1402T>A (p.Phe468Ile) c.806T>A | |
16 | g.28900593T>C | CA395410875 | ATP2A1 | c.1777T>C (p.Phe593Leu) c.1402T>C (p.Phe468Leu) c.806T>C | gnomAD v4 |
16 | g.28900593T>G | CA395410877 | ATP2A1 | c.1777T>G (p.Phe593Val) c.1402T>G (p.Phe468Val) c.806T>G | |
16 | g.28900594T>A | CA395410881 | ATP2A1 | c.1778T>A (p.Phe593Tyr) c.1403T>A (p.Phe468Tyr) c.807T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900594T>C | CA395410883 | ATP2A1 | c.1778T>C (p.Phe593Ser) c.1403T>C (p.Phe468Ser) c.807T>C | dbSNP |
16 | g.28900594T>G | CA395410880 | ATP2A1 | c.1778T>G (p.Phe593Cys) c.1403T>G (p.Phe468Cys) c.807T>G | |
16 | g.28900594T= | CA2215884373 | ATP2A1 | c.1778T= (p.Phe593=) c.1403T= (p.Phe468=) c.807T= | |
16 | g.28900595C>A | CA7987083 | ATP2A1 | c.1779C>A (p.Phe593Leu) c.1404C>A (p.Phe468Leu) c.808C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900595C= | CA2215884384 | ATP2A1 | c.1779C= (p.Phe593=) c.1404C= (p.Phe468=) c.808C= | |
16 | g.28900595C>G | CA395410885 | ATP2A1 | c.1779C>G (p.Phe593Leu) c.1404C>G (p.Phe468Leu) c.808C>G | |
16 | g.28900595C>T | CA7987084 | ATP2A1 | c.1779C>T (p.Phe593=) c.1404C>T (p.Phe468=) c.808C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900596G>A | CA7987085 | ATP2A1 | c.1780G>A (p.Val594Met) c.1405G>A (p.Val469Met) c.809G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900596G>C | CA395410897 | ATP2A1 | c.1780G>C (p.Val594Leu) c.1405G>C (p.Val469Leu) c.809G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900596G= | CA2215884392 | ATP2A1 | c.1780G= (p.Val594=) c.1405G= (p.Val469=) c.809G= | |
16 | g.28900596G>T | CA395410895 | ATP2A1 | c.1780G>T (p.Val594Leu) c.1405G>T (p.Val469Leu) c.809G>T | gnomAD v4 COSMIC |
16 | g.28900597T>A | CA395410900 | ATP2A1 | c.1781T>A (p.Val594Glu) c.1406T>A (p.Val469Glu) c.810T>A | |
16 | g.28900597T>C | CA395410904 | ATP2A1 | c.1781T>C (p.Val594Ala) c.1406T>C (p.Val469Ala) c.810T>C | |
16 | g.28900597T>G | CA395410903 | ATP2A1 | c.1781T>G (p.Val594Gly) c.1406T>G (p.Val469Gly) c.810T>G | |
16 | g.28900598G>A | CA494508926 | ATP2A1 | c.1782G>A (p.Val594=) c.1407G>A (p.Val469=) c.811G>A | dbSNP gnomAD v4 |
16 | g.28900598G>C | CA494508925 | ATP2A1 | c.1782G>C (p.Val594=) c.1407G>C (p.Val469=) c.811G>C | |
16 | g.28900598G= | CA2215884401 | ATP2A1 | c.1782G= (p.Val594=) c.1407G= (p.Val469=) c.811G= | |
16 | g.28900598G>T | CA494508924 | ATP2A1 | c.1782G>T (p.Val594=) c.1407G>T (p.Val469=) c.811G>T | dbSNP |
16 | g.28900599G>A | CA395410906 | ATP2A1 | c.1783G>A (p.Gly595Ser) c.1408G>A (p.Gly470Ser) c.812G>A | |
16 | g.28900599G>C | CA395410908 | ATP2A1 | c.1783G>C (p.Gly595Arg) c.1408G>C (p.Gly470Arg) c.812G>C | |
16 | g.28900599G>T | CA395410909 | ATP2A1 | c.1783G>T (p.Gly595Cys) c.1408G>T (p.Gly470Cys) c.812G>T | gnomAD v4 |
16 | g.28900600G>A | CA395410911 | ATP2A1 | c.1784G>A (p.Gly595Asp) c.1409G>A (p.Gly470Asp) c.813G>A | |
16 | g.28900600G>C | CA395410913 | ATP2A1 | c.1784G>C (p.Gly595Ala) c.1409G>C (p.Gly470Ala) c.813G>C | |
16 | g.28900600G>T | CA395410915 | ATP2A1 | c.1784G>T (p.Gly595Val) c.1409G>T (p.Gly470Val) c.813G>T | |
16 | g.28900601T>A | CA494508936 | ATP2A1 | c.1785T>A (p.Gly595=) c.1410T>A (p.Gly470=) c.814T>A | gnomAD v4 |
16 | g.28900601T>C | CA494508939 | ATP2A1 | c.1785T>C (p.Gly595=) c.1410T>C (p.Gly470=) c.814T>C | dbSNP gnomAD v4 |
16 | g.28900601T>G | CA494508941 | ATP2A1 | c.1785T>G (p.Gly595=) c.1410T>G (p.Gly470=) c.814T>G | |
16 | g.28900601_28900602insCTAC | CA2806424056 | ATP2A1 | c.1785_1786insCTAC (p.Val596LeufsTer22) c.1410_1411insCTAC (p.Val471LeufsTer22) c.814_815insCTAC | |
16 | g.28900602G>A | CA7987086 | ATP2A1 | c.1786G>A (p.Val596Ile) c.1411G>A (p.Val471Ile) c.815G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900602G>C | CA395410917 | ATP2A1 | c.1786G>C (p.Val596Leu) c.1411G>C (p.Val471Leu) c.815G>C | |
16 | g.28900602G= | CA2215884406 | ATP2A1 | c.1786G= (p.Val596=) c.1411G= (p.Val471=) c.815G= | |
16 | g.28900602G>T | CA395410921 | ATP2A1 | c.1786G>T (p.Val596Leu) c.1411G>T (p.Val471Leu) c.815G>T | |
16 | g.28900603T>A | CA395410923 | ATP2A1 | c.1787T>A (p.Val596Glu) c.1412T>A (p.Val471Glu) c.816T>A | |
16 | g.28900603T>C | CA395410926 | ATP2A1 | c.1787T>C (p.Val596Ala) c.1412T>C (p.Val471Ala) c.816T>C | gnomAD v4 |
16 | g.28900603T>G | CA395410928 | ATP2A1 | c.1787T>G (p.Val596Gly) c.1412T>G (p.Val471Gly) c.816T>G | |
16 | g.28900604A>C | CA494874293 | ATP2A1 | c.1788A>C (p.Val596=) c.1413A>C (p.Val471=) c.817A>C | |
16 | g.28900604A>G | CA494874294 | ATP2A1 | c.1788A>G (p.Val596=) c.1413A>G (p.Val471=) c.817A>G | COSMIC |
16 | g.28900604A>T | CA494874295 | ATP2A1 | c.1788A>T (p.Val596=) c.1413A>T (p.Val471=) c.817A>T | |
16 | g.28900605G>A | CA395410930 | ATP2A1 | c.1789G>A (p.Val597Met) c.1414G>A (p.Val472Met) c.818G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900605G>C | CA395410934 | ATP2A1 | c.1789G>C (p.Val597Leu) c.1414G>C (p.Val472Leu) c.818G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900605G= | CA2215884414 | ATP2A1 | c.1789G= (p.Val597=) c.1414G= (p.Val472=) c.818G= | |
16 | g.28900605G>T | CA395410932 | ATP2A1 | c.1789G>T (p.Val597Leu) c.1414G>T (p.Val472Leu) c.818G>T | |
16 | g.28900606T>A | CA395410936 | ATP2A1 | c.1790T>A (p.Val597Glu) c.1415T>A (p.Val472Glu) c.819T>A | |
16 | g.28900606T>C | CA395410939 | ATP2A1 | c.1790T>C (p.Val597Ala) c.1415T>C (p.Val472Ala) c.819T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900606T>G | CA395410940 | ATP2A1 | c.1790T>G (p.Val597Gly) c.1415T>G (p.Val472Gly) c.819T>G | |
16 | g.28900606T= | CA2215884420 | ATP2A1 | c.1790T= (p.Val597=) c.1415T= (p.Val472=) c.819T= | |
16 | g.28900607G>A | CA494874296 | ATP2A1 | c.1791G>A (p.Val597=) c.1416G>A (p.Val472=) c.820G>A | |
16 | g.28900607G>C | CA494874297 | ATP2A1 | c.1791G>C (p.Val597=) c.1416G>C (p.Val472=) c.820G>C | |
16 | g.28900607G>T | CA494874298 | ATP2A1 | c.1791G>T (p.Val597=) c.1416G>T (p.Val472=) c.820G>T | gnomAD v4 |
16 | g.28900608G>A | CA395410943 | ATP2A1 | c.1792G>A (p.Gly598Ser) c.1417G>A (p.Gly473Ser) c.821G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900608G>C | CA395410944 | ATP2A1 | c.1792G>C (p.Gly598Arg) c.1417G>C (p.Gly473Arg) c.821G>C | |
16 | g.28900608G= | CA2215884428 | ATP2A1 | c.1792G= (p.Gly598=) c.1417G= (p.Gly473=) c.821G= | |
16 | g.28900608G>T | CA395410945 | ATP2A1 | c.1792G>T (p.Gly598Cys) c.1417G>T (p.Gly473Cys) c.821G>T | COSMIC COSMIC |
16 | g.28900609G>A | CA395410947 | ATP2A1 | c.1793G>A (p.Gly598Asp) c.1418G>A (p.Gly473Asp) c.822G>A | gnomAD v4 |
16 | g.28900609G>C | CA395410949 | ATP2A1 | c.1793G>C (p.Gly598Ala) c.1418G>C (p.Gly473Ala) c.822G>C | |
16 | g.28900609G>T | CA395410951 | ATP2A1 | c.1793G>T (p.Gly598Val) c.1418G>T (p.Gly473Val) c.822G>T | gnomAD v4 |
16 | g.28900610C>A | CA494874299 | ATP2A1 | c.1794C>A (p.Gly598=) c.1419C>A (p.Gly473=) c.823C>A | |
16 | g.28900610C>G | CA494874300 | ATP2A1 | c.1794C>G (p.Gly598=) c.1419C>G (p.Gly473=) c.823C>G | |
16 | g.28900610C>T | CA494874301 | ATP2A1 | c.1794C>T (p.Gly598=) c.1419C>T (p.Gly473=) c.823C>T | |
16 | g.28900611A>C | CA395410954 | ATP2A1 | c.1795A>C (p.Met599Leu) c.1420A>C (p.Met474Leu) c.824A>C | gnomAD v4 |
16 | g.28900611A>G | CA395410955 | ATP2A1 | c.1795A>G (p.Met599Val) c.1420A>G (p.Met474Val) c.824A>G | |
16 | g.28900611A>T | CA395410953 | ATP2A1 | c.1795A>T (p.Met599Leu) c.1420A>T (p.Met474Leu) c.824A>T | |
16 | g.28900612T>A | CA395410956 | ATP2A1 | c.1796T>A (p.Met599Lys) c.1421T>A (p.Met474Lys) c.825T>A | |
16 | g.28900612T>C | CA395410958 | ATP2A1 | c.1796T>C (p.Met599Thr) c.1421T>C (p.Met474Thr) c.825T>C | gnomAD v4 |
16 | g.28900612T>G | CA395410960 | ATP2A1 | c.1796T>G (p.Met599Arg) c.1421T>G (p.Met474Arg) c.825T>G | |
16 | g.28900613G>A | CA395410962 | ATP2A1 | c.1797G>A (p.Met599Ile) c.1422G>A (p.Met474Ile) c.826G>A | |
16 | g.28900613G>C | CA395410963 | ATP2A1 | c.1797G>C (p.Met599Ile) c.1422G>C (p.Met474Ile) c.826G>C | |
16 | g.28900613G>T | CA395410965 | ATP2A1 | c.1797G>T (p.Met599Ile) c.1422G>T (p.Met474Ile) c.826G>T | dbSNP |
16 | g.28900615_28900626del | CA2575960520 | ATP2A1 | c.1799_1810del (p.Leu600_Pro603del) c.1424_1435del (p.Leu475_Pro478del) | |
16 | g.28900614C>A | CA395410968 | ATP2A1 | c.1798C>A (p.Leu600Met) c.1423C>A (p.Leu475Met) c.827C>A | dbSNP |
16 | g.28900614C>G | CA395410969 | ATP2A1 | c.1798C>G (p.Leu600Val) c.1423C>G (p.Leu475Val) c.827C>G | |
16 | g.28900614C>T | CA494874302 | ATP2A1 | c.1798C>T (p.Leu600=) c.1423C>T (p.Leu475=) c.827C>T | gnomAD v4 |
16 | g.28900615T>A | CA395410971 | ATP2A1 | c.1799T>A (p.Leu600Gln) c.1424T>A (p.Leu475Gln) c.828T>A | |
16 | g.28900615T>C | CA395410974 | ATP2A1 | c.1799T>C (p.Leu600Pro) c.1424T>C (p.Leu475Pro) c.828T>C | gnomAD v4 |
16 | g.28900615T>G | CA395410975 | ATP2A1 | c.1799T>G (p.Leu600Arg) c.1424T>G (p.Leu475Arg) c.828T>G | |
16 | g.28900616G>A | CA7987087 | ATP2A1 | c.1800G>A (p.Leu600=) c.1425G>A (p.Leu475=) c.829G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900616G>C | CA494874303 | ATP2A1 | c.1800G>C (p.Leu600=) c.1425G>C (p.Leu475=) c.829G>C | |
16 | g.28900616G= | CA2215884439 | ATP2A1 | c.1800G= (p.Leu600=) c.1425G= (p.Leu475=) c.829G= | |
16 | g.28900616G>T | CA7987088 | ATP2A1 | c.1800G>T (p.Leu600=) c.1425G>T (p.Leu475=) c.829G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900617G>A | CA395410983 | ATP2A1 | c.1801G>A (p.Asp601Asn) c.1426G>A (p.Asp476Asn) c.830G>A | dbSNP gnomAD v2 |
16 | g.28900617G>C | CA395410982 | ATP2A1 | c.1801G>C (p.Asp601His) c.1426G>C (p.Asp476His) c.830G>C | |
16 | g.28900617G= | CA2215884456 | ATP2A1 | c.1801G= (p.Asp601=) c.1426G= (p.Asp476=) c.830G= | |
16 | g.28900617G>T | CA395410981 | ATP2A1 | c.1801G>T (p.Asp601Tyr) c.1426G>T (p.Asp476Tyr) c.830G>T | |
16 | g.28900618A>C | CA395410984 | ATP2A1 | c.1802A>C (p.Asp601Ala) c.1427A>C (p.Asp476Ala) c.831A>C | |
16 | g.28900618A>G | CA395410985 | ATP2A1 | c.1802A>G (p.Asp601Gly) c.1427A>G (p.Asp476Gly) c.831A>G | gnomAD v4 |
16 | g.28900618A>T | CA395410986 | ATP2A1 | c.1802A>T (p.Asp601Val) c.1427A>T (p.Asp476Val) c.831A>T | |
16 | g.28900619C>A | CA395410987 | ATP2A1 | c.1803C>A (p.Asp601Glu) c.1428C>A (p.Asp476Glu) | |
16 | g.28900619C= | CA2215884463 | ATP2A1 | c.1803C= (p.Asp601=) c.1428C= (p.Asp476=) | |
16 | g.28900619C>G | CA395410988 | ATP2A1 | c.1803C>G (p.Asp601Glu) c.1428C>G (p.Asp476Glu) | |
16 | g.28900619C>T | CA7987089 | ATP2A1 | c.1803C>T (p.Asp601=) c.1428C>T (p.Asp476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900620C>A | CA395410989 | ATP2A1 | c.1804C>A (p.Pro602Thr) c.1429C>A (p.Pro477Thr) | gnomAD v4 COSMIC |
16 | g.28900620C>G | CA395410990 | ATP2A1 | c.1804C>G (p.Pro602Ala) c.1429C>G (p.Pro477Ala) | |
16 | g.28900620C>T | CA395410991 | ATP2A1 | c.1804C>T (p.Pro602Ser) c.1429C>T (p.Pro477Ser) | |
16 | g.28900621C>A | CA395410992 | ATP2A1 | c.1805C>A (p.Pro602His) c.1430C>A (p.Pro477His) | |
16 | g.28900621C= | CA2215884465 | ATP2A1 | c.1805C= (p.Pro602=) c.1430C= (p.Pro477=) | |
16 | g.28900621C>G | CA395410993 | ATP2A1 | c.1805C>G (p.Pro602Arg) c.1430C>G (p.Pro477Arg) | |
16 | g.28900621C>T | CA395410994 | ATP2A1 | c.1805C>T (p.Pro602Leu) c.1430C>T (p.Pro477Leu) | dbSNP |
16 | g.28900621_28900622insCG | CA2632539884 | ATP2A1 | c.1805_1806insCG (p.Pro603ValfsTer20) c.1430_1431insCG (p.Pro478ValfsTer20) | gnomAD v4 |
16 | g.28900622T>A | CA494874304 | ATP2A1 | c.1806T>A (p.Pro602=) c.1431T>A (p.Pro477=) | dbSNP |
16 | g.28900622T>C | CA494874305 | ATP2A1 | c.1806T>C (p.Pro602=) c.1431T>C (p.Pro477=) | |
16 | g.28900622T>G | CA494874306 | ATP2A1 | c.1806T>G (p.Pro602=) c.1431T>G (p.Pro477=) | |
16 | g.28900622T= | CA2215884470 | ATP2A1 | c.1806T= (p.Pro602=) c.1431T= (p.Pro477=) | |
16 | g.28900622_28900623insACCTTCCCTGCAGACTCACTTCATGCAGTGCA | CA2632539887 | ATP2A1 | c.1806_1807insACCTTCCCTGCAGACTCACTTCATGCAGTGCA (p.Pro603ThrfsTer30) c.1431_1432insACCTTCCCTGCAGACTCACTTCATGCAGTGCA (p.Pro478ThrfsTer30) | gnomAD v4 |
16 | g.28900623C>A | CA395410997 | ATP2A1 | c.1807C>A (p.Pro603Thr) c.1432C>A (p.Pro478Thr) | |
16 | g.28900623C>G | CA395410996 | ATP2A1 | c.1807C>G (p.Pro603Ala) c.1432C>G (p.Pro478Ala) | |
16 | g.28900623C>T | CA395410995 | ATP2A1 | c.1807C>T (p.Pro603Ser) c.1432C>T (p.Pro478Ser) | |
16 | g.28900624dup | CA2215884472 | ATP2A1 | c.1808dup (p.Arg604AlafsTer13) c.1433dup (p.Arg479AlafsTer13) | dbSNP |
16 | g.28900624C>A | CA395410998 | ATP2A1 | c.1808C>A (p.Pro603Gln) c.1433C>A (p.Pro478Gln) | |
16 | g.28900624C= | CA2215884476 | ATP2A1 | c.1808C= (p.Pro603=) c.1433C= (p.Pro478=) | |
16 | g.28900624C>G | CA395410999 | ATP2A1 | c.1808C>G (p.Pro603Arg) c.1433C>G (p.Pro478Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900624C>T | CA7987090 | ATP2A1 | c.1808C>T (p.Pro603Leu) c.1433C>T (p.Pro478Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900625G>A | CA7987091 | ATP2A1 | c.1809G>A (p.Pro603=) c.1434G>A (p.Pro478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900625G>C | CA494874308 | ATP2A1 | c.1809G>C (p.Pro603=) c.1434G>C (p.Pro478=) | dbSNP |
16 | g.28900625G= | CA2215884483 | ATP2A1 | c.1809G= (p.Pro603=) c.1434G= (p.Pro478=) | |
16 | g.28900625G>T | CA494874307 | ATP2A1 | c.1809G>T (p.Pro603=) c.1434G>T (p.Pro478=) | |
16 | g.28900626C>A | CA395411000 | ATP2A1 | c.1810C>A (p.Arg604Ser) c.1435C>A (p.Arg479Ser) | gnomAD v4 |
16 | g.28900626C= | CA2215884492 | ATP2A1 | c.1810C= (p.Arg604=) c.1435C= (p.Arg479=) | |
16 | g.28900626C>G | CA395411001 | ATP2A1 | c.1810C>G (p.Arg604Gly) c.1435C>G (p.Arg479Gly) | |
16 | g.28900626C>T | CA279240136 | ATP2A1 | c.1810C>T (p.Arg604Cys) c.1435C>T (p.Arg479Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.28900627G>A | CA395411002 | ATP2A1 | c.1811G>A (p.Arg604His) c.1436G>A (p.Arg479His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900627G>C | CA395411003 | ATP2A1 | c.1811G>C (p.Arg604Pro) c.1436G>C (p.Arg479Pro) | |
16 | g.28900627G= | CA2215884501 | ATP2A1 | c.1811G= (p.Arg604=) c.1436G= (p.Arg479=) | |
16 | g.28900627G>T | CA395411004 | ATP2A1 | c.1811G>T (p.Arg604Leu) c.1436G>T (p.Arg479Leu) | |
16 | g.28900628C>A | CA494874311 | ATP2A1 | c.1812C>A (p.Arg604=) c.1437C>A (p.Arg479=) | |
16 | g.28900628C>G | CA494874310 | ATP2A1 | c.1812C>G (p.Arg604=) c.1437C>G (p.Arg479=) | |
16 | g.28900628C>T | CA494874309 | ATP2A1 | c.1812C>T (p.Arg604=) c.1437C>T (p.Arg479=) | |
16 | g.28900629A= | CA2215884513 | ATP2A1 | c.1813A= (p.Lys605=) c.1438A= (p.Lys480=) | |
16 | g.28900629A>C | CA395411005 | ATP2A1 | c.1813A>C (p.Lys605Gln) c.1438A>C (p.Lys480Gln) | |
16 | g.28900629A>G | CA395411006 | ATP2A1 | c.1813A>G (p.Lys605Glu) c.1438A>G (p.Lys480Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900629A>T | CA395411007 | ATP2A1 | c.1813A>T (p.Lys605Ter) c.1438A>T (p.Lys480Ter) | |
16 | g.28900629_28900632delinsAAGG | CA2215884514 | ATP2A1 | c.1813_1816delinsAAGG (p.Lys605=) c.1438_1441delinsAAGG (p.Lys480=) | |
16 | g.28900630A>C | CA395411008 | ATP2A1 | c.1814A>C (p.Lys605Thr) c.1439A>C (p.Lys480Thr) | |
16 | g.28900630A>G | CA395411009 | ATP2A1 | c.1814A>G (p.Lys605Arg) c.1439A>G (p.Lys480Arg) | gnomAD v4 |
16 | g.28900630A>T | CA395411010 | ATP2A1 | c.1814A>T (p.Lys605Met) c.1439A>T (p.Lys480Met) | |
16 | g.28900633_28900635del | CA719740017 | ATP2A1 | c.1817_1819del (p.Glu606del) c.1442_1444del (p.Glu481del) | ClinVar dbSNP |
16 | g.28900631G>A | CA494874312 | ATP2A1 | c.1815G>A (p.Lys605=) c.1440G>A (p.Lys480=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900631G>C | CA16607383 | ATP2A1 | c.1815G>C (p.Lys605Asn) c.1440G>C (p.Lys480Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.28900631G= | CA2215884522 | ATP2A1 | c.1815G= (p.Lys605=) c.1440G= (p.Lys480=) | |
16 | g.28900631G>T | CA395411011 | ATP2A1 | c.1815G>T (p.Lys605Asn) c.1440G>T (p.Lys480Asn) | dbSNP |
16 | g.28900632G>A | CA395411012 | ATP2A1 | c.1816G>A (p.Glu606Lys) c.1441G>A (p.Glu481Lys) | |
16 | g.28900632G>C | CA395411013 | ATP2A1 | c.1816G>C (p.Glu606Gln) c.1441G>C (p.Glu481Gln) | |
16 | g.28900632G>T | CA395411014 | ATP2A1 | c.1816G>T (p.Glu606Ter) c.1441G>T (p.Glu481Ter) | |
16 | g.28900633A= | CA2215884528 | ATP2A1 | c.1817A= (p.Glu606=) c.1442A= (p.Glu481=) | |
16 | g.28900633A>C | CA395411015 | ATP2A1 | c.1817A>C (p.Glu606Ala) c.1442A>C (p.Glu481Ala) | |
16 | g.28900633A>G | CA395411016 | ATP2A1 | c.1817A>G (p.Glu606Gly) c.1442A>G (p.Glu481Gly) | |
16 | g.28900633A>T | CA7987092 | ATP2A1 | c.1817A>T (p.Glu606Val) c.1442A>T (p.Glu481Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900633_28900634delinsTC | CA2580091434 | ATP2A1 | c.1817_1818delinsTC (p.Glu606Val) c.1442_1443delinsTC (p.Glu481Val) | ClinVar |
16 | g.28900634G>A | CA494874313 | ATP2A1 | c.1818G>A (p.Glu606=) c.1443G>A (p.Glu481=) | |
16 | g.28900634G>C | CA395411017 | ATP2A1 | c.1818G>C (p.Glu606Asp) c.1443G>C (p.Glu481Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900634G= | CA2215884531 | ATP2A1 | c.1818G= (p.Glu606=) c.1443G= (p.Glu481=) | |
16 | g.28900634G>T | CA395411018 | ATP2A1 | c.1818G>T (p.Glu606Asp) c.1443G>T (p.Glu481Asp) | |
16 | g.28900635G>A | CA395411019 | ATP2A1 | c.1819G>A (p.Val607Ile) c.1444G>A (p.Val482Ile) | |
16 | g.28900635G>C | CA395411020 | ATP2A1 | c.1819G>C (p.Val607Leu) c.1444G>C (p.Val482Leu) | |
16 | g.28900635G>T | CA395411021 | ATP2A1 | c.1819G>T (p.Val607Phe) c.1444G>T (p.Val482Phe) | |
16 | g.28900636T>A | CA395411024 | ATP2A1 | c.1820T>A (p.Val607Asp) c.1445T>A (p.Val482Asp) | |
16 | g.28900636T>C | CA395411023 | ATP2A1 | c.1820T>C (p.Val607Ala) c.1445T>C (p.Val482Ala) | gnomAD v4 |
16 | g.28900636T>G | CA395411022 | ATP2A1 | c.1820T>G (p.Val607Gly) c.1445T>G (p.Val482Gly) | |
16 | g.28900637C>A | CA494874314 | ATP2A1 | c.1821C>A (p.Val607=) c.1446C>A (p.Val482=) | |
16 | g.28900637C>G | CA494874315 | ATP2A1 | c.1821C>G (p.Val607=) c.1446C>G (p.Val482=) | |
16 | g.28900637C>T | CA494874316 | ATP2A1 | c.1821C>T (p.Val607=) c.1446C>T (p.Val482=) | |
16 | g.28900638A= | CA2215884535 | ATP2A1 | c.1822A= (p.Thr608=) c.1447A= (p.Thr483=) | |
16 | g.28900638A>C | CA395411025 | ATP2A1 | c.1822A>C (p.Thr608Pro) c.1447A>C (p.Thr483Pro) | |
16 | g.28900638A>G | CA395411026 | ATP2A1 | c.1822A>G (p.Thr608Ala) c.1447A>G (p.Thr483Ala) | dbSNP |
16 | g.28900638A>T | CA395411027 | ATP2A1 | c.1822A>T (p.Thr608Ser) c.1447A>T (p.Thr483Ser) | |
16 | g.28900639C>A | CA395411028 | ATP2A1 | c.1823C>A (p.Thr608Lys) c.1448C>A (p.Thr483Lys) | |
16 | g.28900639C= | CA2215884541 | ATP2A1 | c.1823C= (p.Thr608=) c.1448C= (p.Thr483=) | |
16 | g.28900639C>G | CA395411029 | ATP2A1 | c.1823C>G (p.Thr608Arg) c.1448C>G (p.Thr483Arg) | |
16 | g.28900639C>T | CA7987093 | ATP2A1 | c.1823C>T (p.Thr608Met) c.1448C>T (p.Thr483Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900640G>A | CA279240147 | ATP2A1 | c.1824G>A (p.Thr608=) c.1449G>A (p.Thr483=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900640G>C | CA7987094 | ATP2A1 | c.1824G>C (p.Thr608=) c.1449G>C (p.Thr483=) | dbSNP ExAC gnomAD v2 |
16 | g.28900640G= | CA2215884545 | ATP2A1 | c.1824G= (p.Thr608=) c.1449G= (p.Thr483=) | |
16 | g.28900640G>T | CA494874317 | ATP2A1 | c.1824G>T (p.Thr608=) c.1449G>T (p.Thr483=) | gnomAD v4 |
16 | g.28900641G>A | CA395411030 | ATP2A1 | c.1825G>A (p.Gly609Ser) c.1450G>A (p.Gly484Ser) | |
16 | g.28900641G>C | CA395411032 | ATP2A1 | c.1825G>C (p.Gly609Arg) c.1450G>C (p.Gly484Arg) | |
16 | g.28900641G= | CA2215884553 | ATP2A1 | c.1825G= (p.Gly609=) c.1450G= (p.Gly484=) | |
16 | g.28900641G>T | CA395411031 | ATP2A1 | c.1825G>T (p.Gly609Cys) c.1450G>T (p.Gly484Cys) | dbSNP |
16 | g.28900642G>A | CA395411033 | ATP2A1 | c.1826G>A (p.Gly609Asp) c.1451G>A (p.Gly484Asp) | |
16 | g.28900642G>C | CA395411034 | ATP2A1 | c.1826G>C (p.Gly609Ala) c.1451G>C (p.Gly484Ala) | |
16 | g.28900642G>T | CA395411035 | ATP2A1 | c.1826G>T (p.Gly609Val) c.1451G>T (p.Gly484Val) | |
16 | g.28900643C>A | CA494874318 | ATP2A1 | c.1827C>A (p.Gly609=) c.1452C>A (p.Gly484=) | gnomAD v4 |
16 | g.28900643C= | CA2215884558 | ATP2A1 | c.1827C= (p.Gly609=) c.1452C= (p.Gly484=) | |
16 | g.28900643C>G | CA494874319 | ATP2A1 | c.1827C>G (p.Gly609=) c.1452C>G (p.Gly484=) | |
16 | g.28900643C>T | CA7987095 | ATP2A1 | c.1827C>T (p.Gly609=) c.1452C>T (p.Gly484=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900644T>A | CA395411036 | ATP2A1 | c.1828T>A (p.Ser610Thr) c.1453T>A (p.Ser485Thr) | |
16 | g.28900644T>C | CA395411038 | ATP2A1 | c.1828T>C (p.Ser610Pro) c.1453T>C (p.Ser485Pro) | |
16 | g.28900644T>G | CA395411037 | ATP2A1 | c.1828T>G (p.Ser610Ala) c.1453T>G (p.Ser485Ala) | |
16 | g.28900645C>A | CA395411039 | ATP2A1 | c.1829C>A (p.Ser610Tyr) c.1454C>A (p.Ser485Tyr) | |
16 | g.28900645C>G | CA395411040 | ATP2A1 | c.1829C>G (p.Ser610Cys) c.1454C>G (p.Ser485Cys) | |
16 | g.28900645C>T | CA395411041 | ATP2A1 | c.1829C>T (p.Ser610Phe) c.1454C>T (p.Ser485Phe) | |
16 | g.28900646C>A | CA494874320 | ATP2A1 | c.1830C>A (p.Ser610=) c.1455C>A (p.Ser485=) | gnomAD v4 |
16 | g.28900646C= | CA2215884562 | ATP2A1 | c.1830C= (p.Ser610=) c.1455C= (p.Ser485=) | |
16 | g.28900646C>G | CA494874321 | ATP2A1 | c.1830C>G (p.Ser610=) c.1455C>G (p.Ser485=) | |
16 | g.28900646C>T | CA279240150 | ATP2A1 | c.1830C>T (p.Ser610=) c.1455C>T (p.Ser485=) | dbSNP |
16 | g.28900647A>C | CA395411042 | ATP2A1 | c.1831A>C (p.Ile611Leu) c.1456A>C (p.Ile486Leu) | |
16 | g.28900647A>G | CA395411043 | ATP2A1 | c.1831A>G (p.Ile611Val) c.1456A>G (p.Ile486Val) | |
16 | g.28900647A>T | CA395411044 | ATP2A1 | c.1831A>T (p.Ile611Phe) c.1456A>T (p.Ile486Phe) | |
16 | g.28900648T>A | CA395411045 | ATP2A1 | c.1832T>A (p.Ile611Asn) c.1457T>A (p.Ile486Asn) | |
16 | g.28900648T>C | CA395411046 | ATP2A1 | c.1832T>C (p.Ile611Thr) c.1457T>C (p.Ile486Thr) | |
16 | g.28900648T>G | CA395411047 | ATP2A1 | c.1832T>G (p.Ile611Ser) c.1457T>G (p.Ile486Ser) | |
16 | g.28900649C>A | CA494874322 | ATP2A1 | c.1833C>A (p.Ile611=) c.1458C>A (p.Ile486=) | |
16 | g.28900649C>G | CA395411048 | ATP2A1 | c.1833C>G (p.Ile611Met) c.1458C>G (p.Ile486Met) | COSMIC |
16 | g.28900649C>T | CA494874323 | ATP2A1 | c.1833C>T (p.Ile611=) c.1458C>T (p.Ile486=) | |
16 | g.28900650C>A | CA395411051 | ATP2A1 | c.1834C>A (p.Gln612Lys) c.1459C>A (p.Gln487Lys) | |
16 | g.28900650C>G | CA395411050 | ATP2A1 | c.1834C>G (p.Gln612Glu) c.1459C>G (p.Gln487Glu) | |
16 | g.28900650C>T | CA395411049 | ATP2A1 | c.1834C>T (p.Gln612Ter) c.1459C>T (p.Gln487Ter) | gnomAD v4 |
16 | g.28900651_28900658dup | CA2632539929 | ATP2A1 | c.1835_1842dup (p.Arg615SerfsTer10) c.1460_1467dup (p.Arg490SerfsTer10) | gnomAD v4 |
16 | g.28900651A>C | CA395411052 | ATP2A1 | c.1835A>C (p.Gln612Pro) c.1460A>C (p.Gln487Pro) | |
16 | g.28900651A>G | CA395411054 | ATP2A1 | c.1835A>G (p.Gln612Arg) c.1460A>G (p.Gln487Arg) | |
16 | g.28900651A>T | CA395411053 | ATP2A1 | c.1835A>T (p.Gln612Leu) c.1460A>T (p.Gln487Leu) | |
16 | g.28900652G>A | CA494874324 | ATP2A1 | c.1836G>A (p.Gln612=) c.1461G>A (p.Gln487=) | dbSNP |
16 | g.28900652G>C | CA395411055 | ATP2A1 | c.1836G>C (p.Gln612His) c.1461G>C (p.Gln487His) | dbSNP gnomAD v4 |
16 | g.28900652G= | CA2215884569 | ATP2A1 | c.1836G= (p.Gln612=) c.1461G= (p.Gln487=) | |
16 | g.28900652G>T | CA395411056 | ATP2A1 | c.1836G>T (p.Gln612His) c.1461G>T (p.Gln487His) | |
16 | g.28900653C>A | CA395411057 | ATP2A1 | c.1837C>A (p.Leu613Met) c.1462C>A (p.Leu488Met) | |
16 | g.28900653C= | CA2215884572 | ATP2A1 | c.1837C= (p.Leu613=) c.1462C= (p.Leu488=) | |
16 | g.28900653C>G | CA395411058 | ATP2A1 | c.1837C>G (p.Leu613Val) c.1462C>G (p.Leu488Val) | |
16 | g.28900653C>T | CA7987096 | ATP2A1 | c.1837C>T (p.Leu613=) c.1462C>T (p.Leu488=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900654T>A | CA395411059 | ATP2A1 | c.1838T>A (p.Leu613Gln) c.1463T>A (p.Leu488Gln) | |
16 | g.28900654T>C | CA395411060 | ATP2A1 | c.1838T>C (p.Leu613Pro) c.1463T>C (p.Leu488Pro) | |
16 | g.28900654T>G | CA395411061 | ATP2A1 | c.1838T>G (p.Leu613Arg) c.1463T>G (p.Leu488Arg) | |
16 | g.28900655G>A | CA494874325 | ATP2A1 | c.1839G>A (p.Leu613=) c.1464G>A (p.Leu488=) | dbSNP gnomAD v4 |
16 | g.28900655G>C | CA494874326 | ATP2A1 | c.1839G>C (p.Leu613=) c.1464G>C (p.Leu488=) | |
16 | g.28900655G>T | CA494874327 | ATP2A1 | c.1839G>T (p.Leu613=) c.1464G>T (p.Leu488=) | |
16 | g.28900656T>A | CA395411062 | ATP2A1 | c.1840T>A (p.Cys614Ser) c.1465T>A (p.Cys489Ser) | |
16 | g.28900656T>C | CA395411063 | ATP2A1 | c.1840T>C (p.Cys614Arg) c.1465T>C (p.Cys489Arg) | gnomAD v4 |
16 | g.28900656T>G | CA395411064 | ATP2A1 | c.1840T>G (p.Cys614Gly) c.1465T>G (p.Cys489Gly) |