Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900746del | CA2632539945 | ATP2A1 | c.1930del (p.Glu644ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) | gnomAD v4 |
16 | g.28900746G>A | CA395411247 | ATP2A1 | c.1930G>A (p.Glu644Lys) c.1555G>A (p.Glu519Lys) | |
16 | g.28900746G>C | CA395411245 | ATP2A1 | c.1930G>C (p.Glu644Gln) c.1555G>C (p.Glu519Gln) | |
16 | g.28900746G>T | CA395411246 | ATP2A1 | c.1930G>T (p.Glu644Ter) c.1555G>T (p.Glu519Ter) | |
16 | g.28900747A>C | CA395411248 | ATP2A1 | c.1931A>C (p.Glu644Ala) c.1556A>C (p.Glu519Ala) | |
16 | g.28900747A>G | CA395411249 | ATP2A1 | c.1931A>G (p.Glu644Gly) c.1556A>G (p.Glu519Gly) | gnomAD v4 |
16 | g.28900747A>T | CA395411250 | ATP2A1 | c.1931A>T (p.Glu644Val) c.1556A>T (p.Glu519Val) | |
16 | g.28900748G>A | CA279240308 | ATP2A1 | c.1932G>A (p.Glu644=) c.1557G>A (p.Glu519=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900748G>C | CA395411251 | ATP2A1 | c.1932G>C (p.Glu644Asp) c.1557G>C (p.Glu519Asp) | |
16 | g.28900748G= | CA2215884877 | ATP2A1 | c.1932G= (p.Glu644=) c.1557G= (p.Glu519=) | |
16 | g.28900748G>T | CA395411252 | ATP2A1 | c.1932G>T (p.Glu644Asp) c.1557G>T (p.Glu519Asp) | |
16 | g.28900749A>C | CA395411255 | ATP2A1 | c.1933A>C (p.Asn645His) c.1558A>C (p.Asn520His) | |
16 | g.28900749A>G | CA395411254 | ATP2A1 | c.1933A>G (p.Asn645Asp) c.1558A>G (p.Asn520Asp) | |
16 | g.28900749A>T | CA395411253 | ATP2A1 | c.1933A>T (p.Asn645Tyr) c.1558A>T (p.Asn520Tyr) | |
16 | g.28900750A>C | CA395411256 | ATP2A1 | c.1934A>C (p.Asn645Thr) c.1559A>C (p.Asn520Thr) | |
16 | g.28900750A>G | CA395411257 | ATP2A1 | c.1934A>G (p.Asn645Ser) c.1559A>G (p.Asn520Ser) | |
16 | g.28900750A>T | CA395411258 | ATP2A1 | c.1934A>T (p.Asn645Ile) c.1559A>T (p.Asn520Ile) | |
16 | g.28900751C>A | CA395411259 | ATP2A1 | c.1935C>A (p.Asn645Lys) c.1560C>A (p.Asn520Lys) | |
16 | g.28900751C= | CA2215884885 | ATP2A1 | c.1935C= (p.Asn645=) c.1560C= (p.Asn520=) | |
16 | g.28900751C>G | CA395411260 | ATP2A1 | c.1935C>G (p.Asn645Lys) c.1560C>G (p.Asn520Lys) | |
16 | g.28900751C>T | CA7987120 | ATP2A1 | c.1935C>T (p.Asn645=) c.1560C>T (p.Asn520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900752G>A | CA7987121 | ATP2A1 | c.1936G>A (p.Glu646Lys) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G>C | CA7987122 | ATP2A1 | c.1936G>C (p.Glu646Gln) c.1561G>C (p.Glu521Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G= | CA2215884907 | ATP2A1 | c.1936G= (p.Glu646=) c.1561G= (p.Glu521=) | |
16 | g.28900752G>T | CA395411261 | ATP2A1 | c.1936G>T (p.Glu646Ter) c.1561G>T (p.Glu521Ter) | |
16 | g.28900756_28900758del | CA645573195 | ATP2A1 | c.1940_1942del (p.Glu647del) c.1565_1567del (p.Glu522del) | COSMIC COSMIC |
16 | g.28900753A>C | CA395411262 | ATP2A1 | c.1937A>C (p.Glu646Ala) c.1562A>C (p.Glu521Ala) | |
16 | g.28900753A>G | CA395411263 | ATP2A1 | c.1937A>G (p.Glu646Gly) c.1562A>G (p.Glu521Gly) | |
16 | g.28900753A>T | CA395411264 | ATP2A1 | c.1937A>T (p.Glu646Val) c.1562A>T (p.Glu521Val) | |
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) |