Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900756_28900758del | CA645573195 | ATP2A1 | c.1940_1942del (p.Glu647del) c.1565_1567del (p.Glu522del) | COSMIC COSMIC |
16 | g.28900757G>A | CA10643415 | ATP2A1 | c.1941G>A (p.Glu647=) c.1566G>A (p.Glu522=) | ClinVar dbSNP gnomAD v4 |
16 | g.28900757G>C | CA395411274 | ATP2A1 | c.1941G>C (p.Glu647Asp) c.1566G>C (p.Glu522Asp) | |
16 | g.28900757G= | CA2215884921 | ATP2A1 | c.1941G= (p.Glu647=) c.1566G= (p.Glu522=) | |
16 | g.28900757G>T | CA395411273 | ATP2A1 | c.1941G>T (p.Glu647Asp) c.1566G>T (p.Glu522Asp) | |
16 | g.28900758G>A | CA395411275 | ATP2A1 | c.1942G>A (p.Val648Met) c.1567G>A (p.Val523Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900758G>C | CA395411277 | ATP2A1 | c.1942G>C (p.Val648Leu) c.1567G>C (p.Val523Leu) | |
16 | g.28900758G= | CA2215884925 | ATP2A1 | c.1942G= (p.Val648=) c.1567G= (p.Val523=) | |
16 | g.28900758G>T | CA395411276 | ATP2A1 | c.1942G>T (p.Val648Leu) c.1567G>T (p.Val523Leu) | |
16 | g.28900759T>A | CA395411278 | ATP2A1 | c.1943T>A (p.Val648Glu) c.1568T>A (p.Val523Glu) | |
16 | g.28900759T>C | CA395411280 | ATP2A1 | c.1943T>C (p.Val648Ala) c.1568T>C (p.Val523Ala) | |
16 | g.28900759T>G | CA395411279 | ATP2A1 | c.1943T>G (p.Val648Gly) c.1568T>G (p.Val523Gly) | |
16 | g.28900760G>A | CA494874388 | ATP2A1 | c.1944G>A (p.Val648=) c.1569G>A (p.Val523=) | |
16 | g.28900760G>C | CA494874389 | ATP2A1 | c.1944G>C (p.Val648=) c.1569G>C (p.Val523=) | |
16 | g.28900760G>T | CA494874390 | ATP2A1 | c.1944G>T (p.Val648=) c.1569G>T (p.Val523=) | |
16 | g.28900761G>A | CA395411281 | ATP2A1 | c.1945G>A (p.Ala649Thr) c.1570G>A (p.Ala524Thr) | dbSNP |
16 | g.28900761G>C | CA395411282 | ATP2A1 | c.1945G>C (p.Ala649Pro) c.1570G>C (p.Ala524Pro) | |
16 | g.28900761G= | CA2215884932 | ATP2A1 | c.1945G= (p.Ala649=) c.1570G= (p.Ala524=) | |
16 | g.28900761G>T | CA395411283 | ATP2A1 | c.1945G>T (p.Ala649Ser) c.1570G>T (p.Ala524Ser) | |
16 | g.28900762C>A | CA395411284 | ATP2A1 | c.1946C>A (p.Ala649Asp) c.1571C>A (p.Ala524Asp) | |
16 | g.28900762C= | CA2215884936 | ATP2A1 | c.1946C= (p.Ala649=) c.1571C= (p.Ala524=) | |
16 | g.28900762C>G | CA395411285 | ATP2A1 | c.1946C>G (p.Ala649Gly) c.1571C>G (p.Ala524Gly) | |
16 | g.28900762C>T | CA395411286 | ATP2A1 | c.1946C>T (p.Ala649Val) c.1571C>T (p.Ala524Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900763C>A | CA494874392 | ATP2A1 | c.1947C>A (p.Ala649=) c.1572C>A (p.Ala524=) | |
16 | g.28900763C= | CA2215884942 | ATP2A1 | c.1947C= (p.Ala649=) c.1572C= (p.Ala524=) | |
16 | g.28900763C>G | CA494874393 | ATP2A1 | c.1947C>G (p.Ala649=) c.1572C>G (p.Ala524=) | dbSNP |
16 | g.28900763C>T | CA494874391 | ATP2A1 | c.1947C>T (p.Ala649=) c.1572C>T (p.Ala524=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>A | CA7987123 | ATP2A1 | c.1948G>A (p.Asp650Asn) c.1573G>A (p.Asp525Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>C | CA395411287 | ATP2A1 | c.1948G>C (p.Asp650His) c.1573G>C (p.Asp525His) | |
16 | g.28900764G= | CA2215884950 | ATP2A1 | c.1948G= (p.Asp650=) c.1573G= (p.Asp525=) | |
16 | g.28900764G>T | CA7987124 | ATP2A1 | c.1948G>T (p.Asp650Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP ExAC gnomAD v2 |
16 | g.28900765A= | CA2215884952 | ATP2A1 | c.1949A= (p.Asp650=) c.1574A= (p.Asp525=) | |
16 | g.28900765A>C | CA395411288 | ATP2A1 | c.1949A>C (p.Asp650Ala) c.1574A>C (p.Asp525Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900765A>G | CA395411289 | ATP2A1 | c.1949A>G (p.Asp650Gly) c.1574A>G (p.Asp525Gly) | |
16 | g.28900765A>T | CA395411290 | ATP2A1 | c.1949A>T (p.Asp650Val) c.1574A>T (p.Asp525Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900766T>A | CA395411291 | ATP2A1 | c.1950T>A (p.Asp650Glu) c.1575T>A (p.Asp525Glu) | |
16 | g.28900766T>C | CA494874394 | ATP2A1 | c.1950T>C (p.Asp650=) c.1575T>C (p.Asp525=) | dbSNP |
16 | g.28900766T>G | CA395411292 | ATP2A1 | c.1950T>G (p.Asp650Glu) c.1575T>G (p.Asp525Glu) | |
16 | g.28900766T= | CA2215884957 | ATP2A1 | c.1950T= (p.Asp650=) c.1575T= (p.Asp525=) | |
16 | g.28900767C>A | CA395411293 | ATP2A1 | c.1951C>A (p.Arg651Ser) c.1576C>A (p.Arg526Ser) | COSMIC COSMIC |
16 | g.28900767C= | CA2215884966 | ATP2A1 | c.1951C= (p.Arg651=) c.1576C= (p.Arg526=) | |
16 | g.28900767C>G | CA395411294 | ATP2A1 | c.1951C>G (p.Arg651Gly) c.1576C>G (p.Arg526Gly) | dbSNP gnomAD v4 |
16 | g.28900767C>T | CA279240353 | ATP2A1 | c.1951C>T (p.Arg651Cys) c.1576C>T (p.Arg526Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900768G>A | CA7987125 | ATP2A1 | c.1952G>A (p.Arg651His) c.1577G>A (p.Arg526His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900768G>C | CA395411295 | ATP2A1 | c.1952G>C (p.Arg651Pro) c.1577G>C (p.Arg526Pro) | |
16 | g.28900768G= | CA2215884971 | ATP2A1 | c.1952G= (p.Arg651=) c.1577G= (p.Arg526=) | |
16 | g.28900768G>T | CA395411296 | ATP2A1 | c.1952G>T (p.Arg651Leu) c.1577G>T (p.Arg526Leu) | |
16 | g.28900769C>A | CA494874395 | ATP2A1 | c.1953C>A (p.Arg651=) c.1578C>A (p.Arg526=) | dbSNP |
16 | g.28900769C= | CA2215884978 | ATP2A1 | c.1953C= (p.Arg651=) c.1578C= (p.Arg526=) | |
16 | g.28900769C>G | CA494874396 | ATP2A1 | c.1953C>G (p.Arg651=) c.1578C>G (p.Arg526=) | |
16 | g.28900769C>T | CA7987126 | ATP2A1 | c.1953C>T (p.Arg651=) c.1578C>T (p.Arg526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900770G>A | CA7987127 | ATP2A1 | c.1954G>A (p.Ala652Thr) c.1579G>A (p.Ala527Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900770G>C | CA395411297 | ATP2A1 | c.1954G>C (p.Ala652Pro) c.1579G>C (p.Ala527Pro) | |
16 | g.28900770G= | CA2215884985 | ATP2A1 | c.1954G= (p.Ala652=) c.1579G= (p.Ala527=) | |
16 | g.28900770G>T | CA395411298 | ATP2A1 | c.1954G>T (p.Ala652Ser) c.1579G>T (p.Ala527Ser) | |
16 | g.28900771C>A | CA395411300 | ATP2A1 | c.1955C>A (p.Ala652Asp) c.1580C>A (p.Ala527Asp) | |
16 | g.28900771C>G | CA395411301 | ATP2A1 | c.1955C>G (p.Ala652Gly) c.1580C>G (p.Ala527Gly) | |
16 | g.28900771C>T | CA395411299 | ATP2A1 | c.1955C>T (p.Ala652Val) c.1580C>T (p.Ala527Val) | gnomAD v4 |
16 | g.28900772C>A | CA494874397 | ATP2A1 | c.1956C>A (p.Ala652=) c.1581C>A (p.Ala527=) | |
16 | g.28900772C= | CA2215884994 | ATP2A1 | c.1956C= (p.Ala652=) c.1581C= (p.Ala527=) | |
16 | g.28900772C>G | CA494874398 | ATP2A1 | c.1956C>G (p.Ala652=) c.1581C>G (p.Ala527=) | |
16 | g.28900772C>T | CA7987128 | ATP2A1 | c.1956C>T (p.Ala652=) c.1581C>T (p.Ala527=) | dbSNP ExAC gnomAD v2 |
16 | g.28900773T>A | CA395411302 | ATP2A1 | c.1957T>A (p.Tyr653Asn) c.1582T>A (p.Tyr528Asn) | |
16 | g.28900773T>C | CA395411303 | ATP2A1 | c.1957T>C (p.Tyr653His) c.1582T>C (p.Tyr528His) | ClinVar |
16 | g.28900773T>G | CA395411304 | ATP2A1 | c.1957T>G (p.Tyr653Asp) c.1582T>G (p.Tyr528Asp) | |
16 | g.28900774A= | CA2215885000 | ATP2A1 | c.1958A= (p.Tyr653=) c.1583A= (p.Tyr528=) | |
16 | g.28900774A>C | CA395411305 | ATP2A1 | c.1958A>C (p.Tyr653Ser) c.1583A>C (p.Tyr528Ser) | |
16 | g.28900774A>G | CA7987129 | ATP2A1 | c.1958A>G (p.Tyr653Cys) c.1583A>G (p.Tyr528Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.28900774A>T | CA395411306 | ATP2A1 | c.1958A>T (p.Tyr653Phe) c.1583A>T (p.Tyr528Phe) | |
16 | g.28900775C>A | CA395411307 | ATP2A1 | c.1959C>A (p.Tyr653Ter) c.1584C>A (p.Tyr528Ter) | |
16 | g.28900775C>G | CA395411308 | ATP2A1 | c.1959C>G (p.Tyr653Ter) c.1584C>G (p.Tyr528Ter) | |
16 | g.28900775C>T | CA494874399 | ATP2A1 | c.1959C>T (p.Tyr653=) c.1584C>T (p.Tyr528=) | |
16 | g.28900776A>C | CA395411309 | ATP2A1 | c.1960A>C (p.Thr654Pro) c.1585A>C (p.Thr529Pro) | |
16 | g.28900776A>G | CA395411310 | ATP2A1 | c.1960A>G (p.Thr654Ala) c.1585A>G (p.Thr529Ala) | gnomAD v4 |
16 | g.28900776A>T | CA395411311 | ATP2A1 | c.1960A>T (p.Thr654Ser) c.1585A>T (p.Thr529Ser) | |
16 | g.28900777C>A | CA395411312 | ATP2A1 | c.1961C>A (p.Thr654Lys) c.1586C>A (p.Thr529Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900777C= | CA2215885019 | ATP2A1 | c.1961C= (p.Thr654=) c.1586C= (p.Thr529=) | |
16 | g.28900777C>G | CA395411313 | ATP2A1 | c.1961C>G (p.Thr654Arg) c.1586C>G (p.Thr529Arg) | |
16 | g.28900777C>T | CA7987130 | ATP2A1 | c.1961C>T (p.Thr654Met) c.1586C>T (p.Thr529Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900778G>A | CA7987131 | ATP2A1 | c.1962G>A (p.Thr654=) c.1587G>A (p.Thr529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900778G>C | CA494874400 | ATP2A1 | c.1962G>C (p.Thr654=) c.1587G>C (p.Thr529=) | dbSNP |
16 | g.28900778G= | CA2215885025 | ATP2A1 | c.1962G= (p.Thr654=) c.1587G= (p.Thr529=) | |
16 | g.28900778G>T | CA494874401 | ATP2A1 | c.1962G>T (p.Thr654=) c.1587G>T (p.Thr529=) | |
16 | g.28900779G>A | CA395411314 | ATP2A1 | c.1963G>A (p.Gly655Ser) c.1588G>A (p.Gly530Ser) | |
16 | g.28900779G>C | CA395411315 | ATP2A1 | c.1963G>C (p.Gly655Arg) c.1588G>C (p.Gly530Arg) | |
16 | g.28900779G>T | CA395411316 | ATP2A1 | c.1963G>T (p.Gly655Cys) c.1588G>T (p.Gly530Cys) | |
16 | g.28900780G>A | CA395411319 | ATP2A1 | c.1964G>A (p.Gly655Asp) c.1589G>A (p.Gly530Asp) | |
16 | g.28900780G>C | CA395411318 | ATP2A1 | c.1964G>C (p.Gly655Ala) c.1589G>C (p.Gly530Ala) | |
16 | g.28900780G>T | CA395411317 | ATP2A1 | c.1964G>T (p.Gly655Val) c.1589G>T (p.Gly530Val) | |
16 | g.28900781C>A | CA494874402 | ATP2A1 | c.1965C>A (p.Gly655=) c.1590C>A (p.Gly530=) | |
16 | g.28900781C= | CA2215885030 | ATP2A1 | c.1965C= (p.Gly655=) c.1590C= (p.Gly530=) | |
16 | g.28900781C>G | CA494874403 | ATP2A1 | c.1965C>G (p.Gly655=) c.1590C>G (p.Gly530=) | |
16 | g.28900781C>T | CA494874404 | ATP2A1 | c.1965C>T (p.Gly655=) c.1590C>T (p.Gly530=) | dbSNP |
16 | g.28900782C>A | CA7987133 | ATP2A1 | c.1966C>A (p.Arg656=) c.1591C>A (p.Arg531=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.28900782C= | CA2215885034 | ATP2A1 | c.1966C= (p.Arg656=) c.1591C= (p.Arg531=) | |
16 | g.28900782C>G | CA395411320 | ATP2A1 | c.1966C>G (p.Arg656Gly) c.1591C>G (p.Arg531Gly) | |
16 | g.28900782C>T | CA7987132 | ATP2A1 | c.1966C>T (p.Arg656Ter) c.1591C>T (p.Arg531Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900783G>A | CA7987134 | ATP2A1 | c.1967G>A (p.Arg656Gln) c.1592G>A (p.Arg531Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900783G>C | CA395411321 | ATP2A1 | c.1967G>C (p.Arg656Pro) c.1592G>C (p.Arg531Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900783G= | CA2215885039 | ATP2A1 | c.1967G= (p.Arg656=) c.1592G= (p.Arg531=) | |
16 | g.28900783G>T | CA7987135 | ATP2A1 | c.1967G>T (p.Arg656Leu) c.1592G>T (p.Arg531Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900786_28900787del | CA2632539976 | ATP2A1 | c.1970_1971del (p.Glu657ValfsTer8) c.1595_1596del (p.Glu532ValfsTer8) | gnomAD v4 |
16 | g.28900784A= | CA2215885043 | ATP2A1 | c.1968A= (p.Arg656=) c.1593A= (p.Arg531=) | |
16 | g.28900784A>C | CA494874405 | ATP2A1 | c.1968A>C (p.Arg656=) c.1593A>C (p.Arg531=) | |
16 | g.28900784A>G | CA494874407 | ATP2A1 | c.1968A>G (p.Arg656=) c.1593A>G (p.Arg531=) | dbSNP |
16 | g.28900784A>T | CA494874406 | ATP2A1 | c.1968A>T (p.Arg656=) c.1593A>T (p.Arg531=) | |
16 | g.28900784dup | CA622162501 | ATP2A1 | c.1968dup (p.Glu657ArgfsTer9) c.1593dup (p.Glu532ArgfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900785G>A | CA395411324 | ATP2A1 | c.1969G>A (p.Glu657Lys) c.1594G>A (p.Glu532Lys) | COSMIC |
16 | g.28900785G>C | CA395411323 | ATP2A1 | c.1969G>C (p.Glu657Gln) c.1594G>C (p.Glu532Gln) | dbSNP |
16 | g.28900785G= | CA2215885049 | ATP2A1 | c.1969G= (p.Glu657=) c.1594G= (p.Glu532=) | |
16 | g.28900785G>T | CA395411322 | ATP2A1 | c.1969G>T (p.Glu657Ter) c.1594G>T (p.Glu532Ter) | |
16 | g.28900786A>C | CA395411325 | ATP2A1 | c.1970A>C (p.Glu657Ala) c.1595A>C (p.Glu532Ala) | |
16 | g.28900786A>G | CA395411327 | ATP2A1 | c.1970A>G (p.Glu657Gly) c.1595A>G (p.Glu532Gly) | |
16 | g.28900786A>T | CA395411326 | ATP2A1 | c.1970A>T (p.Glu657Val) c.1595A>T (p.Glu532Val) | |
16 | g.28900787G>A | CA494874408 | ATP2A1 | c.1971G>A (p.Glu657=) c.1596G>A (p.Glu532=) | |
16 | g.28900787G>C | CA395411328 | ATP2A1 | c.1971G>C (p.Glu657Asp) c.1596G>C (p.Glu532Asp) | dbSNP |
16 | g.28900787G>T | CA395411329 | ATP2A1 | c.1971G>T (p.Glu657Asp) c.1596G>T (p.Glu532Asp) | |
16 | g.28900788T>A | CA395411330 | ATP2A1 | c.1972T>A (p.Phe658Ile) c.1597T>A (p.Phe533Ile) | |
16 | g.28900788T>C | CA395411331 | ATP2A1 | c.1972T>C (p.Phe658Leu) c.1597T>C (p.Phe533Leu) | |
16 | g.28900788T>G | CA395411332 | ATP2A1 | c.1972T>G (p.Phe658Val) c.1597T>G (p.Phe533Val) | |
16 | g.28900789T>A | CA395411333 | ATP2A1 | c.1973T>A (p.Phe658Tyr) c.1598T>A (p.Phe533Tyr) | |
16 | g.28900789T>C | CA395411334 | ATP2A1 | c.1973T>C (p.Phe658Ser) c.1598T>C (p.Phe533Ser) | |
16 | g.28900789T>G | CA395411335 | ATP2A1 | c.1973T>G (p.Phe658Cys) c.1598T>G (p.Phe533Cys) | |
16 | g.28900790C>A | CA395411336 | ATP2A1 | c.1974C>A (p.Phe658Leu) c.1599C>A (p.Phe533Leu) | ClinVar dbSNP gnomAD v2 |
16 | g.28900790C= | CA2215885060 | ATP2A1 | c.1974C= (p.Phe658=) c.1599C= (p.Phe533=) | |
16 | g.28900790C>G | CA395411337 | ATP2A1 | c.1974C>G (p.Phe658Leu) c.1599C>G (p.Phe533Leu) | gnomAD v4 |
16 | g.28900790C>T | CA7987136 | ATP2A1 | c.1974C>T (p.Phe658=) c.1599C>T (p.Phe533=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900791G>A | CA7987137 | ATP2A1 | c.1975G>A (p.Asp659Asn) c.1600G>A (p.Asp534Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900791G>C | CA395411339 | ATP2A1 | c.1975G>C (p.Asp659His) c.1600G>C (p.Asp534His) | |
16 | g.28900791G= | CA2215885080 | ATP2A1 | c.1975G= (p.Asp659=) c.1600G= (p.Asp534=) | |
16 | g.28900791G>T | CA395411338 | ATP2A1 | c.1975G>T (p.Asp659Tyr) c.1600G>T (p.Asp534Tyr) | |
16 | g.28900792A= | CA2215885087 | ATP2A1 | c.1976A= (p.Asp659=) c.1601A= (p.Asp534=) | |
16 | g.28900792A>C | CA395411340 | ATP2A1 | c.1976A>C (p.Asp659Ala) c.1601A>C (p.Asp534Ala) | |
16 | g.28900792A>G | CA395411341 | ATP2A1 | c.1976A>G (p.Asp659Gly) c.1601A>G (p.Asp534Gly) | ClinVar dbSNP |
16 | g.28900792A>T | CA395411342 | ATP2A1 | c.1976A>T (p.Asp659Val) c.1601A>T (p.Asp534Val) | |
16 | g.28900793C>A | CA395411343 | ATP2A1 | c.1977C>A (p.Asp659Glu) c.1602C>A (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C= | CA2215885102 | ATP2A1 | c.1977C= (p.Asp659=) c.1602C= (p.Asp534=) | |
16 | g.28900793C>G | CA395411344 | ATP2A1 | c.1977C>G (p.Asp659Glu) c.1602C>G (p.Asp534Glu) | gnomAD v4 |
16 | g.28900793C>T | CA494874409 | ATP2A1 | c.1977C>T (p.Asp659=) c.1602C>T (p.Asp534=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900794G>A | CA7987138 | ATP2A1 | c.1978G>A (p.Asp660Asn) c.1603G>A (p.Asp535Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28900794G>C | CA395411345 | ATP2A1 | c.1978G>C (p.Asp660His) c.1603G>C (p.Asp535His) | |
16 | g.28900794G= | CA2215885116 | ATP2A1 | c.1978G= (p.Asp660=) c.1603G= (p.Asp535=) | |
16 | g.28900794G>T | CA395411346 | ATP2A1 | c.1978G>T (p.Asp660Tyr) c.1603G>T (p.Asp535Tyr) | |
16 | g.28900795A>C | CA395411347 | ATP2A1 | c.1979A>C (p.Asp660Ala) c.1604A>C (p.Asp535Ala) | |
16 | g.28900795A>G | CA395411348 | ATP2A1 | c.1979A>G (p.Asp660Gly) c.1604A>G (p.Asp535Gly) | |
16 | g.28900795A>T | CA395411349 | ATP2A1 | c.1979A>T (p.Asp660Val) c.1604A>T (p.Asp535Val) | |
16 | g.28900796C>A | CA395411350 | ATP2A1 | c.1980C>A (p.Asp660Glu) c.1605C>A (p.Asp535Glu) | |
16 | g.28900796C= | CA2215885122 | ATP2A1 | c.1980C= (p.Asp660=) c.1605C= (p.Asp535=) | |
16 | g.28900796C>G | CA395411351 | ATP2A1 | c.1980C>G (p.Asp660Glu) c.1605C>G (p.Asp535Glu) | |
16 | g.28900796C>T | CA494874410 | ATP2A1 | c.1980C>T (p.Asp660=) c.1605C>T (p.Asp535=) | dbSNP gnomAD v4 |
16 | g.28900797C>A | CA395411352 | ATP2A1 | c.1981C>A (p.Leu661Met) c.1606C>A (p.Leu536Met) | |
16 | g.28900797C>G | CA395411353 | ATP2A1 | c.1981C>G (p.Leu661Val) c.1606C>G (p.Leu536Val) | |
16 | g.28900797C>T | CA494874411 | ATP2A1 | c.1981C>T (p.Leu661=) c.1606C>T (p.Leu536=) | |
16 | g.28900798T>A | CA395411354 | ATP2A1 | c.1982T>A (p.Leu661Gln) c.1607T>A (p.Leu536Gln) | |
16 | g.28900798T>C | CA395411355 | ATP2A1 | c.1982T>C (p.Leu661Pro) c.1607T>C (p.Leu536Pro) | |
16 | g.28900798T>G | CA395411356 | ATP2A1 | c.1982T>G (p.Leu661Arg) c.1607T>G (p.Leu536Arg) | |
16 | g.28900799G>A | CA494874412 | ATP2A1 | c.1983G>A (p.Leu661=) c.1608G>A (p.Leu536=) | dbSNP |
16 | g.28900799G>C | CA494874413 | ATP2A1 | c.1983G>C (p.Leu661=) c.1608G>C (p.Leu536=) | |
16 | g.28900799G= | CA2215885133 | ATP2A1 | c.1983G= (p.Leu661=) c.1608G= (p.Leu536=) | |
16 | g.28900799G>T | CA494874414 | ATP2A1 | c.1983G>T (p.Leu661=) c.1608G>T (p.Leu536=) | |
16 | g.28900800C>A | CA395411357 | ATP2A1 | c.1984C>A (p.Pro662Thr) c.1609C>A (p.Pro537Thr) | |
16 | g.28900800C= | CA2215885138 | ATP2A1 | c.1984C= (p.Pro662=) c.1609C= (p.Pro537=) | |
16 | g.28900800C>G | CA395411358 | ATP2A1 | c.1984C>G (p.Pro662Ala) c.1609C>G (p.Pro537Ala) | |
16 | g.28900800C>T | CA395411359 | ATP2A1 | c.1984C>T (p.Pro662Ser) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900803dup | CA2632539998 | ATP2A1 | c.1987dup (p.Leu663ProfsTer3) c.1612dup (p.Leu538ProfsTer3) | gnomAD v4 |
16 | g.28900801C>A | CA395411361 | ATP2A1 | c.1985C>A (p.Pro662His) c.1610C>A (p.Pro537His) | |
16 | g.28900801C= | CA2215885143 | ATP2A1 | c.1985C= (p.Pro662=) c.1610C= (p.Pro537=) | |
16 | g.28900801C>G | CA395411360 | ATP2A1 | c.1985C>G (p.Pro662Arg) c.1610C>G (p.Pro537Arg) | |
16 | g.28900801C>T | CA7987139 | ATP2A1 | c.1985C>T (p.Pro662Leu) c.1610C>T (p.Pro537Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900802C>A | CA494874415 | ATP2A1 | c.1986C>A (p.Pro662=) c.1611C>A (p.Pro537=) | |
16 | g.28900802C>G | CA494874416 | ATP2A1 | c.1986C>G (p.Pro662=) c.1611C>G (p.Pro537=) | |
16 | g.28900802C>T | CA494874417 | ATP2A1 | c.1986C>T (p.Pro662=) c.1611C>T (p.Pro537=) | |
16 | g.28900803C>A | CA395411362 | ATP2A1 | c.1987C>A (p.Leu663Met) c.1612C>A (p.Leu538Met) | |
16 | g.28900803C= | CA2215885153 | ATP2A1 | c.1987C= (p.Leu663=) c.1612C= (p.Leu538=) | |
16 | g.28900803C>G | CA7987140 | ATP2A1 | c.1987C>G (p.Leu663Val) c.1612C>G (p.Leu538Val) | dbSNP ExAC gnomAD v2 |
16 | g.28900803C>T | CA494874418 | ATP2A1 | c.1987C>T (p.Leu663=) c.1612C>T (p.Leu538=) | |
16 | g.28900804T>A | CA395411363 | ATP2A1 | c.1988T>A (p.Leu663Gln) c.1613T>A (p.Leu538Gln) | |
16 | g.28900804T>C | CA395411364 | ATP2A1 | c.1988T>C (p.Leu663Pro) c.1613T>C (p.Leu538Pro) | gnomAD v4 |
16 | g.28900804T>G | CA7987141 | ATP2A1 | c.1988T>G (p.Leu663Arg) c.1613T>G (p.Leu538Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900804T= | CA2215885160 | ATP2A1 | c.1988T= (p.Leu663=) c.1613T= (p.Leu538=) | |
16 | g.28900805G>A | CA494874419 | ATP2A1 | c.1989G>A (p.Leu663=) c.1614G>A (p.Leu538=) | |
16 | g.28900805G>C | CA494874420 | ATP2A1 | c.1989G>C (p.Leu663=) c.1614G>C (p.Leu538=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900805G= | CA2215885166 | ATP2A1 | c.1989G= (p.Leu663=) c.1614G= (p.Leu538=) | |
16 | g.28900805G>T | CA494874421 | ATP2A1 | c.1989G>T (p.Leu663=) c.1614G>T (p.Leu538=) | |
16 | g.28900806G>A | CA7987142 | ATP2A1 | c.1990G>A (p.Ala664Thr) c.1615G>A (p.Ala539Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900806G>C | CA395411366 | ATP2A1 | c.1990G>C (p.Ala664Pro) c.1615G>C (p.Ala539Pro) | |
16 | g.28900806G= | CA2215885174 | ATP2A1 | c.1990G= (p.Ala664=) c.1615G= (p.Ala539=) | |
16 | g.28900806G>T | CA395411365 | ATP2A1 | c.1990G>T (p.Ala664Ser) c.1615G>T (p.Ala539Ser) | |
16 | g.28900807C>A | CA395411367 | ATP2A1 | c.1991C>A (p.Ala664Asp) c.1616C>A (p.Ala539Asp) | |
16 | g.28900807C>G | CA395411368 | ATP2A1 | c.1991C>G (p.Ala664Gly) c.1616C>G (p.Ala539Gly) | |
16 | g.28900807C>T | CA395411369 | ATP2A1 | c.1991C>T (p.Ala664Val) c.1616C>T (p.Ala539Val) | |
16 | g.28900808T>A | CA494874422 | ATP2A1 | c.1992T>A (p.Ala664=) c.1617T>A (p.Ala539=) | |
16 | g.28900808T>C | CA494874423 | ATP2A1 | c.1992T>C (p.Ala664=) c.1617T>C (p.Ala539=) | dbSNP |
16 | g.28900808T>G | CA494874424 | ATP2A1 | c.1992T>G (p.Ala664=) c.1617T>G (p.Ala539=) | |
16 | g.28900808T= | CA2215885182 | ATP2A1 | c.1992T= (p.Ala664=) c.1617T= (p.Ala539=) | |
16 | g.28900809G>A | CA395411370 | ATP2A1 | c.1993G>A (p.Glu665Lys) c.1618G>A (p.Glu540Lys) | gnomAD v4 |
16 | g.28900809G>C | CA395411371 | ATP2A1 | c.1993G>C (p.Glu665Gln) c.1618G>C (p.Glu540Gln) | |
16 | g.28900809G>T | CA395411372 | ATP2A1 | c.1993G>T (p.Glu665Ter) c.1618G>T (p.Glu540Ter) | |
16 | g.28900810A>C | CA395411373 | ATP2A1 | c.1994A>C (p.Glu665Ala) c.1619A>C (p.Glu540Ala) | |
16 | g.28900810A>G | CA395411374 | ATP2A1 | c.1994A>G (p.Glu665Gly) c.1619A>G (p.Glu540Gly) | |
16 | g.28900810A>T | CA395411375 | ATP2A1 | c.1994A>T (p.Glu665Val) c.1619A>T (p.Glu540Val) | |
16 | g.28900811A= | CA2215885187 | ATP2A1 | c.1995A= (p.Glu665=) c.1620A= (p.Glu540=) | |
16 | g.28900811A>C | CA395411376 | ATP2A1 | c.1995A>C (p.Glu665Asp) c.1620A>C (p.Glu540Asp) | |
16 | g.28900811A>G | CA494874425 | ATP2A1 | c.1995A>G (p.Glu665=) c.1620A>G (p.Glu540=) | dbSNP |
16 | g.28900811A>T | CA395411377 | ATP2A1 | c.1995A>T (p.Glu665Asp) c.1620A>T (p.Glu540Asp) | |
16 | g.28900812C>A | CA395411379 | ATP2A1 | c.1996C>A (p.Gln666Lys) c.1621C>A (p.Gln541Lys) | |
16 | g.28900812C= | CA2215885191 | ATP2A1 | c.1996C= (p.Gln666=) c.1621C= (p.Gln541=) | |
16 | g.28900812C>G | CA395411380 | ATP2A1 | c.1996C>G (p.Gln666Glu) c.1621C>G (p.Gln541Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900812C>T | CA395411378 | ATP2A1 | c.1996C>T (p.Gln666Ter) c.1621C>T (p.Gln541Ter) | |
16 | g.28900813A>C | CA395411382 | ATP2A1 | c.1997A>C (p.Gln666Pro) c.1622A>C (p.Gln541Pro) | |
16 | g.28900813A>G | CA395411381 | ATP2A1 | c.1997A>G (p.Gln666Arg) c.1622A>G (p.Gln541Arg) | |
16 | g.28900813A>T | CA395411383 | ATP2A1 | c.1997A>T (p.Gln666Leu) c.1622A>T (p.Gln541Leu) | |
16 | g.28900814G>A | CA494874426 | ATP2A1 | c.1998G>A (p.Gln666=) c.1623G>A (p.Gln541=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900814G>C | CA7987143 | ATP2A1 | c.1998G>C (p.Gln666His) c.1623G>C (p.Gln541His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900814G= | CA2215885205 | ATP2A1 | c.1998G= (p.Gln666=) c.1623G= (p.Gln541=) | |
16 | g.28900814G>T | CA395411384 | ATP2A1 | c.1998G>T (p.Gln666His) c.1623G>T (p.Gln541His) | COSMIC COSMIC |
16 | g.28900815C>A | CA494874427 | ATP2A1 | c.1999C>A (p.Arg667=) c.1624C>A (p.Arg542=) | |
16 | g.28900815C= | CA2215885212 | ATP2A1 | c.1999C= (p.Arg667=) c.1624C= (p.Arg542=) | |
16 | g.28900815C>G | CA395411385 | ATP2A1 | c.1999C>G (p.Arg667Gly) c.1624C>G (p.Arg542Gly) | |
16 | g.28900815C>T | CA7987144 | ATP2A1 | c.1999C>T (p.Arg667Trp) c.1624C>T (p.Arg542Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.28900816G>A | CA7987145 | ATP2A1 | c.2000G>A (p.Arg667Gln) c.1625G>A (p.Arg542Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900816G>C | CA395411386 | ATP2A1 | c.2000G>C (p.Arg667Pro) c.1625G>C (p.Arg542Pro) | ClinVar gnomAD v4 |
16 | g.28900816G= | CA2215885217 | ATP2A1 | c.2000G= (p.Arg667=) c.1625G= (p.Arg542=) | |
16 | g.28900816G>T | CA395411387 | ATP2A1 | c.2000G>T (p.Arg667Leu) c.1625G>T (p.Arg542Leu) | |
16 | g.28900817G>A | CA494874428 | ATP2A1 | c.2001G>A (p.Arg667=) c.1626G>A (p.Arg542=) | |
16 | g.28900817G>C | CA494874429 | ATP2A1 | c.2001G>C (p.Arg667=) c.1626G>C (p.Arg542=) | |
16 | g.28900817G>T | CA494874430 | ATP2A1 | c.2001G>T (p.Arg667=) c.1626G>T (p.Arg542=) | |
16 | g.28900818G>A | CA395411390 | ATP2A1 | c.2002G>A (p.Glu668Lys) c.1627G>A (p.Glu543Lys) | gnomAD v4 |
16 | g.28900818G>C | CA395411388 | ATP2A1 | c.2002G>C (p.Glu668Gln) c.1627G>C (p.Glu543Gln) | |
16 | g.28900818G>T | CA395411389 | ATP2A1 | c.2002G>T (p.Glu668Ter) c.1627G>T (p.Glu543Ter) | |
16 | g.28900819A>C | CA395411391 | ATP2A1 | c.2003A>C (p.Glu668Ala) c.1628A>C (p.Glu543Ala) | |
16 | g.28900819A>G | CA395411392 | ATP2A1 | c.2003A>G (p.Glu668Gly) c.1628A>G (p.Glu543Gly) | |
16 | g.28900819A>T | CA395411393 | ATP2A1 | c.2003A>T (p.Glu668Val) c.1628A>T (p.Glu543Val) | |
16 | g.28900820A= | CA2215885222 | ATP2A1 | c.2004A= (p.Glu668=) c.1629A= (p.Glu543=) | |
16 | g.28900820A>C | CA395411394 | ATP2A1 | c.2004A>C (p.Glu668Asp) c.1629A>C (p.Glu543Asp) | |
16 | g.28900820A>G | CA494874431 | ATP2A1 | c.2004A>G (p.Glu668=) c.1629A>G (p.Glu543=) | dbSNP |
16 | g.28900820A>T | CA395411395 | ATP2A1 | c.2004A>T (p.Glu668Asp) c.1629A>T (p.Glu543Asp) | |
16 | g.28900821G>A | CA395411398 | ATP2A1 | c.2005G>A (p.Ala669Thr) c.1630G>A (p.Ala544Thr) | |
16 | g.28900821G>C | CA395411396 | ATP2A1 | c.2005G>C (p.Ala669Pro) c.1630G>C (p.Ala544Pro) | |
16 | g.28900821G>T | CA395411397 | ATP2A1 | c.2005G>T (p.Ala669Ser) c.1630G>T (p.Ala544Ser) | |
16 | g.28900822C>A | CA395411399 | ATP2A1 | c.2006C>A (p.Ala669Asp) c.1631C>A (p.Ala544Asp) | gnomAD v4 |
16 | g.28900822C>G | CA395411400 | ATP2A1 | c.2006C>G (p.Ala669Gly) c.1631C>G (p.Ala544Gly) | gnomAD v4 |
16 | g.28900822C>T | CA395411401 | ATP2A1 | c.2006C>T (p.Ala669Val) c.1631C>T (p.Ala544Val) | |
16 | g.28900823C>A | CA494874432 | ATP2A1 | c.2007C>A (p.Ala669=) c.1632C>A (p.Ala544=) | |
16 | g.28900823C>G | CA494874433 | ATP2A1 | c.2007C>G (p.Ala669=) c.1632C>G (p.Ala544=) | gnomAD v4 |
16 | g.28900823C>T | CA494874434 | ATP2A1 | c.2007C>T (p.Ala669=) c.1632C>T (p.Ala544=) | |
16 | g.28900824T>A | CA395411402 | ATP2A1 | c.2008T>A (p.Cys670Ser) c.1633T>A (p.Cys545Ser) | |
16 | g.28900824T>C | CA395411403 | ATP2A1 | c.2008T>C (p.Cys670Arg) c.1633T>C (p.Cys545Arg) | |
16 | g.28900824T>G | CA395411404 | ATP2A1 | c.2008T>G (p.Cys670Gly) c.1633T>G (p.Cys545Gly) | |
16 | g.28900825G>A | CA395411405 | ATP2A1 | c.2009G>A (p.Cys670Tyr) c.1634G>A (p.Cys545Tyr) | gnomAD v4 |
16 | g.28900825G>C | CA7987146 | ATP2A1 | c.2009G>C (p.Cys670Ser) c.1634G>C (p.Cys545Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900825G= | CA2215885225 | ATP2A1 | c.2009G= (p.Cys670=) c.1634G= (p.Cys545=) | |
16 | g.28900825G>T | CA395411406 | ATP2A1 | c.2009G>T (p.Cys670Phe) c.1634G>T (p.Cys545Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900826C>A | CA395411407 | ATP2A1 | c.2010C>A (p.Cys670Ter) c.1635C>A (p.Cys545Ter) | |
16 | g.28900826C>G | CA395411408 | ATP2A1 | c.2010C>G (p.Cys670Trp) c.1635C>G (p.Cys545Trp) | |
16 | g.28900826C>T | CA494874435 | ATP2A1 | c.2010C>T (p.Cys670=) c.1635C>T (p.Cys545=) | |
16 | g.28900827C>A | CA494874436 | ATP2A1 | c.2011C>A (p.Arg671=) c.1636C>A (p.Arg546=) | gnomAD v4 |
16 | g.28900827C= | CA2215885227 | ATP2A1 | c.2011C= (p.Arg671=) c.1636C= (p.Arg546=) | |
16 | g.28900827C>G | CA395411409 | ATP2A1 | c.2011C>G (p.Arg671Gly) c.1636C>G (p.Arg546Gly) | |
16 | g.28900827C>T | CA395411410 | ATP2A1 | c.2011C>T (p.Arg671Ter) c.1636C>T (p.Arg546Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.28900828G>A | CA7987147 | ATP2A1 | c.2012G>A (p.Arg671Gln) c.1637G>A (p.Arg546Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900828G>C | CA395411412 | ATP2A1 | c.2012G>C (p.Arg671Pro) c.1637G>C (p.Arg546Pro) | |
16 | g.28900828G= | CA2215885230 | ATP2A1 | c.2012G= (p.Arg671=) c.1637G= (p.Arg546=) | |
16 | g.28900828G>T | CA395411411 | ATP2A1 | c.2012G>T (p.Arg671Leu) c.1637G>T (p.Arg546Leu) | |
16 | g.28900829A= | CA2215885235 | ATP2A1 | c.2013A= (p.Arg671=) c.1638A= (p.Arg546=) | |
16 | g.28900829A>C | CA494874437 | ATP2A1 | c.2013A>C (p.Arg671=) c.1638A>C (p.Arg546=) | dbSNP |
16 | g.28900829A>G | CA494874438 | ATP2A1 | c.2013A>G (p.Arg671=) c.1638A>G (p.Arg546=) | |
16 | g.28900829A>T | CA494874439 | ATP2A1 | c.2013A>T (p.Arg671=) c.1638A>T (p.Arg546=) | gnomAD v4 |
16 | g.28900830C>A | CA395411413 | ATP2A1 | c.2014C>A (p.Arg672Ser) c.1639C>A (p.Arg547Ser) | |
16 | g.28900830C= | CA2215885244 | ATP2A1 | c.2014C= (p.Arg672=) c.1639C= (p.Arg547=) | |
16 | g.28900830C>G | CA395411414 | ATP2A1 | c.2014C>G (p.Arg672Gly) c.1639C>G (p.Arg547Gly) | |
16 | g.28900830C>T | CA7987148 | ATP2A1 | c.2014C>T (p.Arg672Cys) c.1639C>T (p.Arg547Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900831G>A | CA7987149 | ATP2A1 | c.2015G>A (p.Arg672His) c.1640G>A (p.Arg547His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900831G>C | CA395411415 | ATP2A1 | c.2015G>C (p.Arg672Pro) c.1640G>C (p.Arg547Pro) | |
16 | g.28900831G= | CA2215885247 | ATP2A1 | c.2015G= (p.Arg672=) c.1640G= (p.Arg547=) | |
16 | g.28900831G>T | CA395411416 | ATP2A1 | c.2015G>T (p.Arg672Leu) c.1640G>T (p.Arg547Leu) | dbSNP gnomAD v2 |
16 | g.28900832T>A | CA494874440 | ATP2A1 | c.2016T>A (p.Arg672=) c.1641T>A (p.Arg547=) | |
16 | g.28900832T>C | CA494874441 | ATP2A1 | c.2016T>C (p.Arg672=) c.1641T>C (p.Arg547=) | |
16 | g.28900832T>G | CA494874442 | ATP2A1 | c.2016T>G (p.Arg672=) c.1641T>G (p.Arg547=) | |
16 | g.28900833G>A | CA395411417 | ATP2A1 | c.2017G>A (p.Ala673Thr) c.1642G>A (p.Ala548Thr) | gnomAD v4 |
16 | g.28900833G>C | CA395411418 | ATP2A1 | c.2017G>C (p.Ala673Pro) c.1642G>C (p.Ala548Pro) | |
16 | g.28900833G>T | CA395411419 | ATP2A1 | c.2017G>T (p.Ala673Ser) c.1642G>T (p.Ala548Ser) | |
16 | g.28900834C>A | CA395411420 | ATP2A1 | c.2018C>A (p.Ala673Asp) c.1643C>A (p.Ala548Asp) | dbSNP gnomAD v4 |
16 | g.28900834C= | CA2215885262 | ATP2A1 | c.2018C= (p.Ala673=) c.1643C= (p.Ala548=) | |
16 | g.28900834C>G | CA395411421 | ATP2A1 | c.2018C>G (p.Ala673Gly) c.1643C>G (p.Ala548Gly) | |
16 | g.28900834C>T | CA395411422 | ATP2A1 | c.2018C>T (p.Ala673Val) c.1643C>T (p.Ala548Val) | |
16 | g.28900835C>A | CA494874443 | ATP2A1 | c.2019C>A (p.Ala673=) c.1644C>A (p.Ala548=) | |
16 | g.28900835C>G | CA494874444 | ATP2A1 | c.2019C>G (p.Ala673=) c.1644C>G (p.Ala548=) | |
16 | g.28900835C>T | CA494874445 | ATP2A1 | c.2019C>T (p.Ala673=) c.1644C>T (p.Ala548=) | |
16 | g.28900836T>A | CA395411424 | ATP2A1 | c.2020T>A (p.Cys674Ser) c.1645T>A (p.Cys549Ser) | |
16 | g.28900836T>C | CA395411425 | ATP2A1 | c.2020T>C (p.Cys674Arg) c.1645T>C (p.Cys549Arg) | gnomAD v4 |
16 | g.28900836T>G | CA395411423 | ATP2A1 | c.2020T>G (p.Cys674Gly) c.1645T>G (p.Cys549Gly) | |
16 | g.28900837G>A | CA279240442 | ATP2A1 | c.2021G>A (p.Cys674Tyr) c.1646G>A (p.Cys549Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.28900837G>C | CA395411426 | ATP2A1 | c.2021G>C (p.Cys674Ser) c.1646G>C (p.Cys549Ser) | |
16 | g.28900837G= | CA2215885265 | ATP2A1 | c.2021G= (p.Cys674=) c.1646G= (p.Cys549=) | |
16 | g.28900837G>T | CA395411427 | ATP2A1 | c.2021G>T (p.Cys674Phe) c.1646G>T (p.Cys549Phe) | |
16 | g.28900838C>A | CA395411428 | ATP2A1 | c.2022C>A (p.Cys674Ter) c.1647C>A (p.Cys549Ter) | |
16 | g.28900838C>G | CA395411429 | ATP2A1 | c.2022C>G (p.Cys674Trp) c.1647C>G (p.Cys549Trp) | |
16 | g.28900838C>T | CA494874446 | ATP2A1 | c.2022C>T (p.Cys674=) c.1647C>T (p.Cys549=) | |
16 | g.28900839T>A | CA395411432 | ATP2A1 | c.2023T>A (p.Cys675Ser) c.1648T>A (p.Cys550Ser) | |
16 | g.28900839T>C | CA395411430 | ATP2A1 | c.2023T>C (p.Cys675Arg) c.1648T>C (p.Cys550Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900839T>G | CA395411431 | ATP2A1 | c.2023T>G (p.Cys675Gly) c.1648T>G (p.Cys550Gly) | |
16 | g.28900839T= | CA2215885267 | ATP2A1 | c.2023T= (p.Cys675=) c.1648T= (p.Cys550=) | |
16 | g.28900840G>A | CA395411433 | ATP2A1 | c.2024G>A (p.Cys675Tyr) c.1649G>A (p.Cys550Tyr) | COSMIC COSMIC |
16 | g.28900840G>C | CA395411434 | ATP2A1 | c.2024G>C (p.Cys675Ser) c.1649G>C (p.Cys550Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900840G= | CA2215885274 | ATP2A1 | c.2024G= (p.Cys675=) c.1649G= (p.Cys550=) | |
16 | g.28900840G>T | CA395411435 | ATP2A1 | c.2024G>T (p.Cys675Phe) c.1649G>T (p.Cys550Phe) | |
16 | g.28900841C>A | CA127436 | ATP2A1 | c.2025C>A (p.Cys675Ter) c.1650C>A (p.Cys550Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900841C= | CA2215885280 | ATP2A1 | c.2025C= (p.Cys675=) c.1650C= (p.Cys550=) | |
16 | g.28900841C>G | CA395411436 | ATP2A1 | c.2025C>G (p.Cys675Trp) c.1650C>G (p.Cys550Trp) | |
16 | g.28900841C>T | CA494874447 | ATP2A1 | c.2025C>T (p.Cys675=) c.1650C>T (p.Cys550=) | |
16 | g.28900842T>A | CA395411439 | ATP2A1 | c.2026T>A (p.Phe676Ile) c.1651T>A (p.Phe551Ile) | |
16 | g.28900842T>C | CA395411437 | ATP2A1 | c.2026T>C (p.Phe676Leu) c.1651T>C (p.Phe551Leu) | |
16 | g.28900842T>G | CA395411438 | ATP2A1 | c.2026T>G (p.Phe676Val) c.1651T>G (p.Phe551Val) | |
16 | g.28900843T>A | CA395411440 | ATP2A1 | c.2027T>A (p.Phe676Tyr) c.1652T>A (p.Phe551Tyr) | |
16 | g.28900843T>C | CA395411442 | ATP2A1 | c.2027T>C (p.Phe676Ser) c.1652T>C (p.Phe551Ser) | |
16 | g.28900843T>G | CA395411441 | ATP2A1 | c.2027T>G (p.Phe676Cys) c.1652T>G (p.Phe551Cys) | |
16 | g.28900844C>A | CA395411443 | ATP2A1 | c.2028C>A (p.Phe676Leu) c.1653C>A (p.Phe551Leu) | |
16 | g.28900844C= | CA2215885298 | ATP2A1 | c.2028C= (p.Phe676=) c.1653C= (p.Phe551=) | |
16 | g.28900844C>G | CA395411444 | ATP2A1 | c.2028C>G (p.Phe676Leu) c.1653C>G (p.Phe551Leu) | |
16 | g.28900844C>T | CA7987150 | ATP2A1 | c.2028C>T (p.Phe676=) c.1653C>T (p.Phe551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900845del | CA2632540073 | ATP2A1 | c.2029del (p.Ala677ProfsTer24) c.1654del (p.Ala552ProfsTer24) | gnomAD v4 |
16 | g.28900845G>A | CA7987151 | ATP2A1 | c.2029G>A (p.Ala677Thr) c.1654G>A (p.Ala552Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900845G>C | CA395411445 | ATP2A1 | c.2029G>C (p.Ala677Pro) c.1654G>C (p.Ala552Pro) | |
16 | g.28900845G= | CA2215885302 | ATP2A1 | c.2029G= (p.Ala677=) c.1654G= (p.Ala552=) | |
16 | g.28900845G>T | CA395411446 | ATP2A1 | c.2029G>T (p.Ala677Ser) c.1654G>T (p.Ala552Ser) | ClinVar dbSNP |
16 | g.28900846C>A | CA395411447 | ATP2A1 | c.2030C>A (p.Ala677Asp) c.1655C>A (p.Ala552Asp) | |
16 | g.28900846C>G | CA395411448 | ATP2A1 | c.2030C>G (p.Ala677Gly) c.1655C>G (p.Ala552Gly) | |
16 | g.28900846C>T | CA395411449 | ATP2A1 | c.2030C>T (p.Ala677Val) c.1655C>T (p.Ala552Val) | gnomAD v4 |
16 | g.28900847C>A | CA494874450 | ATP2A1 | c.2031C>A (p.Ala677=) c.1656C>A (p.Ala552=) | |
16 | g.28900847C>G | CA494874449 | ATP2A1 | c.2031C>G (p.Ala677=) c.1656C>G (p.Ala552=) | |
16 | g.28900847C>T | CA494874448 | ATP2A1 | c.2031C>T (p.Ala677=) c.1656C>T (p.Ala552=) | gnomAD v4 |
16 | g.28900848C>A | CA395411450 | ATP2A1 | c.2032C>A (p.Arg678Ser) c.1657C>A (p.Arg553Ser) | |
16 | g.28900848C= | CA2215885311 | ATP2A1 | c.2032C= (p.Arg678=) c.1657C= (p.Arg553=) | |
16 | g.28900848C>G | CA395411451 | ATP2A1 | c.2032C>G (p.Arg678Gly) c.1657C>G (p.Arg553Gly) | |
16 | g.28900848C>T | CA395411452 | ATP2A1 | c.2032C>T (p.Arg678Cys) c.1657C>T (p.Arg553Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900849G>A | CA7987152 | ATP2A1 | c.2033G>A (p.Arg678His) c.1658G>A (p.Arg553His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900849G>C | CA395411453 | ATP2A1 | c.2033G>C (p.Arg678Pro) c.1658G>C (p.Arg553Pro) | |
16 | g.28900849G= | CA2215885315 | ATP2A1 | c.2033G= (p.Arg678=) c.1658G= (p.Arg553=) | |
16 | g.28900849G>T | CA395411454 | ATP2A1 | c.2033G>T (p.Arg678Leu) c.1658G>T (p.Arg553Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900850T>A | CA494874453 | ATP2A1 | c.2034T>A (p.Arg678=) c.1659T>A (p.Arg553=) | |
16 | g.28900850T>C | CA494874452 | ATP2A1 | c.2034T>C (p.Arg678=) c.1659T>C (p.Arg553=) | dbSNP gnomAD v4 |
16 | g.28900850T>G | CA494874451 | ATP2A1 | c.2034T>G (p.Arg678=) c.1659T>G (p.Arg553=) | |
16 | g.28900850T= | CA2215885321 | ATP2A1 | c.2034T= (p.Arg678=) c.1659T= (p.Arg553=) | |
16 | g.28900851G>A | CA395411455 | ATP2A1 | c.2035G>A (p.Val679Met) c.1660G>A (p.Val554Met) | gnomAD v4 |
16 | g.28900851G>C | CA395411456 | ATP2A1 | c.2035G>C (p.Val679Leu) c.1660G>C (p.Val554Leu) | |
16 | g.28900851G>T | CA395411457 | ATP2A1 | c.2035G>T (p.Val679Leu) c.1660G>T (p.Val554Leu) | |
16 | g.28900852T>A | CA395411458 | ATP2A1 | c.2036T>A (p.Val679Glu) c.1661T>A (p.Val554Glu) | |
16 | g.28900852T>C | CA7987153 | ATP2A1 | c.2036T>C (p.Val679Ala) c.1661T>C (p.Val554Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900852T>G | CA395411459 | ATP2A1 | c.2036T>G (p.Val679Gly) c.1661T>G (p.Val554Gly) | |
16 | g.28900852T= | CA2215885325 | ATP2A1 | c.2036T= (p.Val679=) c.1661T= (p.Val554=) | |
16 | g.28900853G>A | CA494874454 | ATP2A1 | c.2037G>A (p.Val679=) c.1662G>A (p.Val554=) | COSMIC COSMIC |
16 | g.28900853G>C | CA494874456 | ATP2A1 | c.2037G>C (p.Val679=) c.1662G>C (p.Val554=) | |
16 | g.28900853G>T | CA494874455 | ATP2A1 | c.2037G>T (p.Val679=) c.1662G>T (p.Val554=) | |
16 | g.28900854G>A | CA395411460 | ATP2A1 | c.2038G>A (p.Glu680Lys) c.1663G>A (p.Glu555Lys) | |
16 | g.28900854G>C | CA395411461 | ATP2A1 | c.2038G>C (p.Glu680Gln) c.1663G>C (p.Glu555Gln) | |
16 | g.28900854G>T | CA395411462 | ATP2A1 | c.2038G>T (p.Glu680Ter) c.1663G>T (p.Glu555Ter) | |
16 | g.28900855A>C | CA395411463 | ATP2A1 | c.2039A>C (p.Glu680Ala) c.1664A>C (p.Glu555Ala) | |
16 | g.28900855A>G | CA395411464 | ATP2A1 | c.2039A>G (p.Glu680Gly) c.1664A>G (p.Glu555Gly) | |
16 | g.28900855A>T | CA395411465 | ATP2A1 | c.2039A>T (p.Glu680Val) c.1664A>T (p.Glu555Val) | COSMIC |
16 | g.28900856G>A | CA494874457 | ATP2A1 | c.2040G>A (p.Glu680=) c.1665G>A (p.Glu555=) | |
16 | g.28900856G>C | CA395411466 | ATP2A1 | c.2040G>C (p.Glu680Asp) c.1665G>C (p.Glu555Asp) | |
16 | g.28900856G= | CA2215885331 | ATP2A1 | c.2040G= (p.Glu680=) c.1665G= (p.Glu555=) | |
16 | g.28900856G>T | CA7987154 | ATP2A1 | c.2040G>T (p.Glu680Asp) c.1665G>T (p.Glu555Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900857C>A | CA395411467 | ATP2A1 | c.2041C>A (p.Pro681Thr) c.1666C>A (p.Pro556Thr) | |
16 | g.28900857C>G | CA395411468 | ATP2A1 | c.2041C>G (p.Pro681Ala) c.1666C>G (p.Pro556Ala) | gnomAD v4 |
16 | g.28900857C>T | CA395411469 | ATP2A1 | c.2041C>T (p.Pro681Ser) c.1666C>T (p.Pro556Ser) |