| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28900741T>A | CA395411235 | ATP2A1 | c.1925T>A (p.Phe642Tyr) c.1550T>A (p.Phe517Tyr) | |
| 16 | g.28900741T>C | CA395411236 | ATP2A1 | c.1925T>C (p.Phe642Ser) c.1550T>C (p.Phe517Ser) | dbSNP |
| 16 | g.28900741T>G | CA395411237 | ATP2A1 | c.1925T>G (p.Phe642Cys) c.1550T>G (p.Phe517Cys) | |
| 16 | g.28900741T= | CA2215884848 | ATP2A1 | c.1925T= (p.Phe642=) c.1550T= (p.Phe517=) | |
| 16 | g.28900742T>A | CA395411238 | ATP2A1 | c.1926T>A (p.Phe642Leu) c.1551T>A (p.Phe517Leu) | |
| 16 | g.28900742T>C | CA494874384 | ATP2A1 | c.1926T>C (p.Phe642=) c.1551T>C (p.Phe517=) | dbSNP |
| 16 | g.28900742T>G | CA395411239 | ATP2A1 | c.1926T>G (p.Phe642Leu) c.1551T>G (p.Phe517Leu) | |
| 16 | g.28900742T= | CA2215884855 | ATP2A1 | c.1926T= (p.Phe642=) c.1551T= (p.Phe517=) | |
| 16 | g.28900743G>A | CA395411240 | ATP2A1 | c.1927G>A (p.Gly643Arg) c.1552G>A (p.Gly518Arg) | |
| 16 | g.28900743G>C | CA395411241 | ATP2A1 | c.1927G>C (p.Gly643Arg) c.1552G>C (p.Gly518Arg) | |
| 16 | g.28900743G>T | CA395411242 | ATP2A1 | c.1927G>T (p.Gly643Trp) c.1552G>T (p.Gly518Trp) | |
| 16 | g.28900746del | CA2632539945 | ATP2A1 | c.1930del (p.Glu644ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) | gnomAD v4 |
| 16 | g.28900744G>A | CA395411243 | ATP2A1 | c.1928G>A (p.Gly643Glu) c.1553G>A (p.Gly518Glu) | gnomAD v4 |
| 16 | g.28900744G>C | CA279240302 | ATP2A1 | c.1928G>C (p.Gly643Ala) c.1553G>C (p.Gly518Ala) | dbSNP |
| 16 | g.28900744G= | CA2215884858 | ATP2A1 | c.1928G= (p.Gly643=) c.1553G= (p.Gly518=) | |
| 16 | g.28900744G>T | CA395411244 | ATP2A1 | c.1928G>T (p.Gly643Val) c.1553G>T (p.Gly518Val) | |
| 16 | g.28900745G>A | CA279240303 | ATP2A1 | c.1929G>A (p.Gly643=) c.1554G>A (p.Gly518=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28900745G>C | CA494874385 | ATP2A1 | c.1929G>C (p.Gly643=) c.1554G>C (p.Gly518=) | |
| 16 | g.28900745G= | CA2215884865 | ATP2A1 | c.1929G= (p.Gly643=) c.1554G= (p.Gly518=) | |
| 16 | g.28900745G>T | CA494874386 | ATP2A1 | c.1929G>T (p.Gly643=) c.1554G>T (p.Gly518=) | 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 |