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.28900754G>A | CA494874387 | ATP2A1 | c.1938G>A (p.Glu646=) c.1563G>A (p.Glu521=) | dbSNP |
16 | g.28900754G>C | CA395411265 | ATP2A1 | c.1938G>C (p.Glu646Asp) c.1563G>C (p.Glu521Asp) | ClinVar |
16 | g.28900754G= | CA2215884917 | ATP2A1 | c.1938G= (p.Glu646=) c.1563G= (p.Glu521=) | |
16 | g.28900754G>T | CA395411266 | ATP2A1 | c.1938G>T (p.Glu646Asp) c.1563G>T (p.Glu521Asp) | |
16 | g.28900755G>A | CA395411267 | ATP2A1 | c.1939G>A (p.Glu647Lys) c.1564G>A (p.Glu522Lys) | gnomAD v4 |
16 | g.28900755G>C | CA395411268 | ATP2A1 | c.1939G>C (p.Glu647Gln) c.1564G>C (p.Glu522Gln) | |
16 | g.28900755G>T | CA395411269 | ATP2A1 | c.1939G>T (p.Glu647Ter) c.1564G>T (p.Glu522Ter) | |
16 | g.28900756A>C | CA395411270 | ATP2A1 | c.1940A>C (p.Glu647Ala) c.1565A>C (p.Glu522Ala) | |
16 | g.28900756A>G | CA395411271 | ATP2A1 | c.1940A>G (p.Glu647Gly) c.1565A>G (p.Glu522Gly) | |
16 | g.28900756A>T | CA395411272 | ATP2A1 | c.1940A>T (p.Glu647Val) c.1565A>T (p.Glu522Val) | gnomAD v4 |
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 |