Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11756911T>G | CA1764072240 | GATA4 | c.998-24T>G (n.998-24T>G) c.1001-24T>G (n.1001-24T>G) n.419T>G c.380-24T>G (n.380-24T>G) c.995-24T>G (n.995-24T>G) c.254-24T>G (n.254-24T>G) | dbSNP |
8 | g.11756911T= | CA1764072238 | GATA4 | c.998-24T= (n.998-24T=) c.1001-24T= (n.1001-24T=) n.419T= c.380-24T= (n.380-24T=) c.995-24T= (n.995-24T=) c.254-24T= (n.254-24T=) | |
8 | g.11756912G>A | CA4630793 | GATA4 | c.998-23G>A (n.998-23G>A) c.1001-23G>A (n.1001-23G>A) n.420G>A c.380-23G>A (n.380-23G>A) c.995-23G>A (n.995-23G>A) c.254-23G>A (n.254-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756912G= | CA1764072241 | GATA4 | c.998-23G= (n.998-23G=) c.1001-23G= (n.1001-23G=) n.420G= c.380-23G= (n.380-23G=) c.995-23G= (n.995-23G=) c.254-23G= (n.254-23G=) | |
8 | g.11756913T>G | CA4630794 | GATA4 | c.998-22T>G (n.998-22T>G) c.1001-22T>G (n.1001-22T>G) n.421T>G c.380-22T>G (n.380-22T>G) c.995-22T>G (n.995-22T>G) c.254-22T>G (n.254-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756913T= | CA1764072243 | GATA4 | c.998-22T= (n.998-22T=) c.1001-22T= (n.1001-22T=) n.421T= c.380-22T= (n.380-22T=) c.995-22T= (n.995-22T=) c.254-22T= (n.254-22T=) | |
8 | g.11756914G>A | CA846161511 | GATA4 | c.998-21G>A (n.998-21G>A) c.1001-21G>A (n.1001-21G>A) n.422G>A c.380-21G>A (n.380-21G>A) c.995-21G>A (n.995-21G>A) c.254-21G>A (n.254-21G>A) | dbSNP |
8 | g.11756914G= | CA1764072251 | GATA4 | c.998-21G= (n.998-21G=) c.1001-21G= (n.1001-21G=) n.422G= c.380-21G= (n.380-21G=) c.995-21G= (n.995-21G=) c.254-21G= (n.254-21G=) | |
8 | g.11756915C= | CA1764072253 | GATA4 | c.998-20C= (n.998-20C=) c.1001-20C= (n.1001-20C=) n.423C= c.380-20C= (n.380-20C=) c.995-20C= (n.995-20C=) c.254-20C= (n.254-20C=) | |
8 | g.11756915C>G | CA579789154 | GATA4 | c.998-20C>G (n.998-20C>G) c.1001-20C>G (n.1001-20C>G) n.423C>G c.380-20C>G (n.380-20C>G) c.995-20C>G (n.995-20C>G) c.254-20C>G (n.254-20C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756915C>T | CA4630795 | GATA4 | c.998-20C>T (n.998-20C>T) c.1001-20C>T (n.1001-20C>T) n.423C>T c.380-20C>T (n.380-20C>T) c.995-20C>T (n.995-20C>T) c.254-20C>T (n.254-20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11756917G>C | CA4630796 | GATA4 | c.998-18G>C (n.998-18G>C) c.1001-18G>C (n.1001-18G>C) n.425G>C c.380-18G>C (n.380-18G>C) c.995-18G>C (n.995-18G>C) c.254-18G>C (n.254-18G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756917G= | CA1764072258 | GATA4 | c.998-18G= (n.998-18G=) c.1001-18G= (n.1001-18G=) n.425G= c.380-18G= (n.380-18G=) c.995-18G= (n.995-18G=) c.254-18G= (n.254-18G=) | |
8 | g.11756917G>T | CA579789156 | GATA4 | c.998-18G>T (n.998-18G>T) c.1001-18G>T (n.1001-18G>T) n.425G>T c.380-18G>T (n.380-18G>T) c.995-18G>T (n.995-18G>T) c.254-18G>T (n.254-18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756918A= | CA1764072261 | GATA4 | c.998-17A= (n.998-17A=) c.1001-17A= (n.1001-17A=) n.426A= c.380-17A= (n.380-17A=) c.995-17A= (n.995-17A=) c.254-17A= (n.254-17A=) | |
8 | g.11756918A>C | CA1764072262 | GATA4 | c.998-17A>C (n.998-17A>C) c.1001-17A>C (n.1001-17A>C) n.426A>C c.380-17A>C (n.380-17A>C) c.995-17A>C (n.995-17A>C) c.254-17A>C (n.254-17A>C) | dbSNP |
8 | g.11756918A>T | CA2686136929 | GATA4 | c.998-17A>T (n.998-17A>T) c.1001-17A>T (n.1001-17A>T) n.426A>T c.380-17A>T (n.380-17A>T) c.995-17A>T (n.995-17A>T) c.254-17A>T (n.254-17A>T) | gnomAD v4 |
8 | g.11756919C= | CA1764072264 | GATA4 | c.998-16C= (n.998-16C=) c.1001-16C= (n.1001-16C=) n.427C= c.380-16C= (n.380-16C=) c.995-16C= (n.995-16C=) c.254-16C= (n.254-16C=) | |
8 | g.11756919C>T | CA172120307 | GATA4 | c.998-16C>T (n.998-16C>T) c.1001-16C>T (n.1001-16C>T) n.427C>T c.380-16C>T (n.380-16C>T) c.995-16C>T (n.995-16C>T) c.254-16C>T (n.254-16C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756921_11756922del | CA2686136930 | GATA4 | c.998-14_998-13del (n.998-14_998-13del) c.1001-14_1001-13del (n.1001-14_1001-13del) n.429_430del c.380-14_380-13del (n.380-14_380-13del) c.995-14_995-13del (n.995-14_995-13del) c.254-14_254-13del (n.254-14_254-13del) | gnomAD v4 |
8 | g.11756921C>G | CA2842499780 | GATA4 | c.998-14C>G (n.998-14C>G) c.1001-14C>G (n.1001-14C>G) n.429C>G c.380-14C>G (n.380-14C>G) c.995-14C>G (n.995-14C>G) c.254-14C>G (n.254-14C>G) | |
8 | g.11756921C>T | CA2686136931 | GATA4 | c.998-14C>T (n.998-14C>T) c.1001-14C>T (n.1001-14C>T) n.429C>T c.380-14C>T (n.380-14C>T) c.995-14C>T (n.995-14C>T) c.254-14C>T (n.254-14C>T) | gnomAD v4 |
8 | g.11756922T>C | CA172120310 | GATA4 | c.998-13T>C (n.998-13T>C) c.1001-13T>C (n.1001-13T>C) n.430T>C c.380-13T>C (n.380-13T>C) c.995-13T>C (n.995-13T>C) c.254-13T>C (n.254-13T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756922T>G | CA1764072269 | GATA4 | c.998-13T>G (n.998-13T>G) c.1001-13T>G (n.1001-13T>G) n.430T>G c.380-13T>G (n.380-13T>G) c.995-13T>G (n.995-13T>G) c.254-13T>G (n.254-13T>G) | dbSNP |
8 | g.11756922T= | CA1764072267 | GATA4 | c.998-13T= (n.998-13T=) c.1001-13T= (n.1001-13T=) n.430T= c.380-13T= (n.380-13T=) c.995-13T= (n.995-13T=) c.254-13T= (n.254-13T=) | |
8 | g.11756924C= | CA1764072272 | GATA4 | c.998-11C= (n.998-11C=) c.1001-11C= (n.1001-11C=) n.432C= c.380-11C= (n.380-11C=) c.995-11C= (n.995-11C=) c.254-11C= (n.254-11C=) | |
8 | g.11756924C>G | CA4630797 | GATA4 | c.998-11C>G (n.998-11C>G) c.1001-11C>G (n.1001-11C>G) n.432C>G c.380-11C>G (n.380-11C>G) c.995-11C>G (n.995-11C>G) c.254-11C>G (n.254-11C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11756926T>C | CA2686136932 | GATA4 | c.998-9T>C (n.998-9T>C) c.1001-9T>C (n.1001-9T>C) n.434T>C c.380-9T>C (n.380-9T>C) c.995-9T>C (n.995-9T>C) c.254-9T>C (n.254-9T>C) | gnomAD v4 |
8 | g.11756927del | CA2686136933 | GATA4 | c.998-8del (n.998-8del) c.1001-8del (n.1001-8del) n.435del c.380-8del (n.380-8del) c.995-8del (n.995-8del) c.254-8del (n.254-8del) | gnomAD v4 |
8 | g.11756927C>T | CA2779061043 | GATA4 | c.998-8C>T (n.998-8C>T) c.1001-8C>T (n.1001-8C>T) n.435C>T c.380-8C>T (n.380-8C>T) c.995-8C>T (n.995-8C>T) c.254-8C>T (n.254-8C>T) | |
8 | g.11756928A>G | CA2686136934 | GATA4 | c.998-7A>G (n.998-7A>G) c.1001-7A>G (n.1001-7A>G) n.436A>G c.380-7A>G (n.380-7A>G) c.995-7A>G (n.995-7A>G) c.254-7A>G (n.254-7A>G) | gnomAD v4 |
8 | g.11756928A>T | CA2686136935 | GATA4 | c.998-7A>T (n.998-7A>T) c.1001-7A>T (n.1001-7A>T) n.436A>T c.380-7A>T (n.380-7A>T) c.995-7A>T (n.995-7A>T) c.254-7A>T (n.254-7A>T) | gnomAD v4 |
8 | g.11756930T>G | CA2686136936 | GATA4 | c.998-5T>G (n.998-5T>G) c.1001-5T>G (n.1001-5T>G) n.438T>G c.380-5T>G (n.380-5T>G) c.995-5T>G (n.995-5T>G) c.254-5T>G (n.254-5T>G) | gnomAD v4 |
8 | g.11756931C>A | CA2686136937 | GATA4 | c.998-4C>A (n.998-4C>A) c.1001-4C>A (n.1001-4C>A) n.439C>A c.380-4C>A (n.380-4C>A) c.995-4C>A (n.995-4C>A) c.254-4C>A (n.254-4C>A) | gnomAD v4 |
8 | g.11756931C= | CA1764072276 | GATA4 | c.998-4C= (n.998-4C=) c.1001-4C= (n.1001-4C=) n.439C= c.380-4C= (n.380-4C=) c.995-4C= (n.995-4C=) c.254-4C= (n.254-4C=) | |
8 | g.11756931C>G | CA4630798 | GATA4 | c.998-4C>G (n.998-4C>G) c.1001-4C>G (n.1001-4C>G) n.439C>G c.380-4C>G (n.380-4C>G) c.995-4C>G (n.995-4C>G) c.254-4C>G (n.254-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756932C= | CA1764072278 | GATA4 | c.998-3C= (n.998-3C=) c.1001-3C= (n.1001-3C=) n.440C= c.380-3C= (n.380-3C=) c.995-3C= (n.995-3C=) c.254-3C= (n.254-3C=) | |
8 | g.11756932C>G | CA579789157 | GATA4 | c.998-3C>G (n.998-3C>G) c.1001-3C>G (n.1001-3C>G) n.440C>G c.380-3C>G (n.380-3C>G) c.995-3C>G (n.995-3C>G) c.254-3C>G (n.254-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11756932C>T | CA1110746744 | GATA4 | c.998-3C>T (n.998-3C>T) c.1001-3C>T (n.1001-3C>T) n.440C>T c.380-3C>T (n.380-3C>T) c.995-3C>T (n.995-3C>T) c.254-3C>T (n.254-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756933A= | CA1764072280 | GATA4 | c.998-2A= (n.998-2A=) c.1001-2A= (n.1001-2A=) n.441A= c.380-2A= (n.380-2A=) c.995-2A= (n.995-2A=) c.254-2A= (n.254-2A=) | |
8 | g.11756933A>C | CA370314705 | GATA4 | c.998-2A>C (n.998-2A>C) c.1001-2A>C (n.1001-2A>C) n.441A>C c.380-2A>C (n.380-2A>C) c.995-2A>C (n.995-2A>C) c.254-2A>C (n.254-2A>C) | |
8 | g.11756933A>G | CA370314707 | GATA4 | c.998-2A>G (n.998-2A>G) c.1001-2A>G (n.1001-2A>G) n.441A>G c.380-2A>G (n.380-2A>G) c.995-2A>G (n.995-2A>G) c.254-2A>G (n.254-2A>G) | |
8 | g.11756933A>T | CA370314709 | GATA4 | c.998-2A>T (n.998-2A>T) c.1001-2A>T (n.1001-2A>T) n.441A>T c.380-2A>T (n.380-2A>T) c.995-2A>T (n.995-2A>T) c.254-2A>T (n.254-2A>T) | dbSNP |
8 | g.11756934G>A | CA370314714 | GATA4 | c.998-1G>A (n.998-1G>A) c.1001-1G>A (n.1001-1G>A) n.442G>A c.380-1G>A (n.380-1G>A) c.995-1G>A (n.995-1G>A) c.254-1G>A (n.254-1G>A) | |
8 | g.11756934G>C | CA370314713 | GATA4 | c.998-1G>C (n.998-1G>C) c.1001-1G>C (n.1001-1G>C) n.442G>C c.380-1G>C (n.380-1G>C) c.995-1G>C (n.995-1G>C) c.254-1G>C (n.254-1G>C) | |
8 | g.11756934G>T | CA370314711 | GATA4 | c.998-1G>T (n.998-1G>T) c.1001-1G>T (n.1001-1G>T) n.442G>T c.380-1G>T (n.380-1G>T) c.995-1G>T (n.995-1G>T) c.254-1G>T (n.254-1G>T) | |
8 | g.11756935C>A | CA370314716 | GATA4 | c.998C>A (p.Ala333Asp) c.1001C>A (p.Ala334Asp) n.443C>A c.380C>A (p.Ala127Asp) c.995C>A (p.Ala332Asp) c.254C>A (p.Ala85Asp) | |
8 | g.11756935C= | CA1764072285 | GATA4 | c.998C= (p.Ala333=) c.1001C= (p.Ala334=) n.443C= c.380C= (p.Ala127=) c.995C= (p.Ala332=) c.254C= (p.Ala85=) | |
8 | g.11756935C>G | CA370314718 | GATA4 | c.998C>G (p.Ala333Gly) c.1001C>G (p.Ala334Gly) n.443C>G c.380C>G (p.Ala127Gly) c.995C>G (p.Ala332Gly) c.254C>G (p.Ala85Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11756935C>T | CA370314719 | GATA4 | c.998C>T (p.Ala333Val) c.1001C>T (p.Ala334Val) n.443C>T c.380C>T (p.Ala127Val) c.995C>T (p.Ala332Val) c.254C>T (p.Ala85Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.11756936T>A | CA459313574 | GATA4 | c.999T>A (p.Ala333=) c.1002T>A (p.Ala334=) n.444T>A c.381T>A (p.Ala127=) c.996T>A (p.Ala332=) c.255T>A (p.Ala85=) | |
8 | g.11756936T>C | CA459313575 | GATA4 | c.999T>C (p.Ala333=) c.1002T>C (p.Ala334=) n.444T>C c.381T>C (p.Ala127=) c.996T>C (p.Ala332=) c.255T>C (p.Ala85=) | |
8 | g.11756936T>G | CA459313576 | GATA4 | c.999T>G (p.Ala333=) c.1002T>G (p.Ala334=) n.444T>G c.381T>G (p.Ala127=) c.996T>G (p.Ala332=) c.255T>G (p.Ala85=) | |
8 | g.11756937C>A | CA370314722 | GATA4 | c.1000C>A (p.Pro334Thr) c.1003C>A (p.Pro335Thr) n.445C>A c.382C>A (p.Pro128Thr) c.997C>A (p.Pro333Thr) c.256C>A (p.Pro86Thr) | gnomAD v4 |
8 | g.11756937C= | CA1764072291 | GATA4 | c.1000C= (p.Pro334=) c.1003C= (p.Pro335=) n.445C= c.382C= (p.Pro128=) c.997C= (p.Pro333=) c.256C= (p.Pro86=) | |
8 | g.11756937C>G | CA370314724 | GATA4 | c.1000C>G (p.Pro334Ala) c.1003C>G (p.Pro335Ala) n.445C>G c.382C>G (p.Pro128Ala) c.997C>G (p.Pro333Ala) c.256C>G (p.Pro86Ala) | dbSNP |
8 | g.11756937C>T | CA370314725 | GATA4 | c.1000C>T (p.Pro334Ser) c.1003C>T (p.Pro335Ser) n.445C>T c.382C>T (p.Pro128Ser) c.997C>T (p.Pro333Ser) c.256C>T (p.Pro86Ser) | ClinVar dbSNP COSMIC |
8 | g.11756938C>A | CA370314727 | GATA4 | c.1001C>A (p.Pro334His) c.1004C>A (p.Pro335His) n.446C>A c.383C>A (p.Pro128His) c.998C>A (p.Pro333His) c.257C>A (p.Pro86His) | |
8 | g.11756938C= | CA1764072300 | GATA4 | c.1001C= (p.Pro334=) c.1004C= (p.Pro335=) n.446C= c.383C= (p.Pro128=) c.998C= (p.Pro333=) c.257C= (p.Pro86=) | |
8 | g.11756938C>G | CA370314729 | GATA4 | c.1001C>G (p.Pro334Arg) c.1004C>G (p.Pro335Arg) n.446C>G c.383C>G (p.Pro128Arg) c.998C>G (p.Pro333Arg) c.257C>G (p.Pro86Arg) | |
8 | g.11756938C>T | CA370314731 | GATA4 | c.1001C>T (p.Pro334Leu) c.1004C>T (p.Pro335Leu) n.446C>T c.383C>T (p.Pro128Leu) c.998C>T (p.Pro333Leu) c.257C>T (p.Pro86Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756939T>A | CA459313578 | GATA4 | c.1002T>A (p.Pro334=) c.1005T>A (p.Pro335=) n.447T>A c.384T>A (p.Pro128=) c.999T>A (p.Pro333=) c.258T>A (p.Pro86=) | |
8 | g.11756939T>C | CA459313579 | GATA4 | c.1002T>C (p.Pro334=) c.1005T>C (p.Pro335=) n.447T>C c.384T>C (p.Pro128=) c.999T>C (p.Pro333=) c.258T>C (p.Pro86=) | |
8 | g.11756939T>G | CA459313581 | GATA4 | c.1002T>G (p.Pro334=) c.1005T>G (p.Pro335=) n.447T>G c.384T>G (p.Pro128=) c.999T>G (p.Pro333=) c.258T>G (p.Pro86=) | |
8 | g.11756940T>A | CA370314733 | GATA4 | c.1003T>A (p.Ser335Thr) c.1006T>A (p.Ser336Thr) n.448T>A c.385T>A (p.Ser129Thr) c.1000T>A (p.Ser334Thr) c.259T>A (p.Ser87Thr) | |
8 | g.11756940T>C | CA370314734 | GATA4 | c.1003T>C (p.Ser335Pro) c.1006T>C (p.Ser336Pro) n.448T>C c.385T>C (p.Ser129Pro) c.1000T>C (p.Ser334Pro) c.259T>C (p.Ser87Pro) | |
8 | g.11756940T>G | CA370314736 | GATA4 | c.1003T>G (p.Ser335Ala) c.1006T>G (p.Ser336Ala) n.448T>G c.385T>G (p.Ser129Ala) c.1000T>G (p.Ser334Ala) c.259T>G (p.Ser87Ala) | |
8 | g.11756941C>A | CA370314740 | GATA4 | c.1004C>A (p.Ser335Ter) c.1007C>A (p.Ser336Ter) n.449C>A c.386C>A (p.Ser129Ter) c.1001C>A (p.Ser334Ter) c.260C>A (p.Ser87Ter) | |
8 | g.11756941C>G | CA370314738 | GATA4 | c.1004C>G (p.Ser335Ter) c.1007C>G (p.Ser336Ter) n.449C>G c.386C>G (p.Ser129Ter) c.1001C>G (p.Ser334Ter) c.260C>G (p.Ser87Ter) | |
8 | g.11756941C>T | CA370314737 | GATA4 | c.1004C>T (p.Ser335Leu) c.1007C>T (p.Ser336Leu) n.449C>T c.386C>T (p.Ser129Leu) c.1001C>T (p.Ser334Leu) c.260C>T (p.Ser87Leu) | |
8 | g.11756942A= | CA1764072305 | GATA4 | c.1005A= (p.Ser335=) c.1008A= (p.Ser336=) n.450A= c.387A= (p.Ser129=) c.1002A= (p.Ser334=) c.261A= (p.Ser87=) | |
8 | g.11756942A>C | CA459313582 | GATA4 | c.1005A>C (p.Ser335=) c.1008A>C (p.Ser336=) n.450A>C c.387A>C (p.Ser129=) c.1002A>C (p.Ser334=) c.261A>C (p.Ser87=) | |
8 | g.11756942A>G | CA4630799 | GATA4 | c.1005A>G (p.Ser335=) c.1008A>G (p.Ser336=) n.450A>G c.387A>G (p.Ser129=) c.1002A>G (p.Ser334=) c.261A>G (p.Ser87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756942A>T | CA459313584 | GATA4 | c.1005A>T (p.Ser335=) c.1008A>T (p.Ser336=) n.450A>T c.387A>T (p.Ser129=) c.1002A>T (p.Ser334=) c.261A>T (p.Ser87=) | |
8 | g.11756943G>A | CA370314743 | GATA4 | c.1006G>A (p.Gly336Ser) c.1009G>A (p.Gly337Ser) n.451G>A c.388G>A (p.Gly130Ser) c.1003G>A (p.Gly335Ser) c.262G>A (p.Gly88Ser) | |
8 | g.11756943G>C | CA370314744 | GATA4 | c.1006G>C (p.Gly336Arg) c.1009G>C (p.Gly337Arg) n.451G>C c.388G>C (p.Gly130Arg) c.1003G>C (p.Gly335Arg) c.262G>C (p.Gly88Arg) | |
8 | g.11756943G>T | CA370314745 | GATA4 | c.1006G>T (p.Gly336Cys) c.1009G>T (p.Gly337Cys) n.451G>T c.388G>T (p.Gly130Cys) c.1003G>T (p.Gly335Cys) c.262G>T (p.Gly88Cys) | |
8 | g.11756944G>A | CA370314746 | GATA4 | c.1007G>A (p.Gly336Asp) c.1010G>A (p.Gly337Asp) n.452G>A c.389G>A (p.Gly130Asp) c.1004G>A (p.Gly335Asp) c.263G>A (p.Gly88Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756944G>C | CA370314747 | GATA4 | c.1007G>C (p.Gly336Ala) c.1010G>C (p.Gly337Ala) n.452G>C c.389G>C (p.Gly130Ala) c.1004G>C (p.Gly335Ala) c.263G>C (p.Gly88Ala) | |
8 | g.11756944G= | CA1764072312 | GATA4 | c.1007G= (p.Gly336=) c.1010G= (p.Gly337=) n.452G= c.389G= (p.Gly130=) c.1004G= (p.Gly335=) c.263G= (p.Gly88=) | |
8 | g.11756944G>T | CA370314748 | GATA4 | c.1007G>T (p.Gly336Val) c.1010G>T (p.Gly337Val) n.452G>T c.389G>T (p.Gly130Val) c.1004G>T (p.Gly335Val) c.263G>T (p.Gly88Val) | dbSNP gnomAD v4 |
8 | g.11756945C>A | CA459313588 | GATA4 | c.1008C>A (p.Gly336=) c.1011C>A (p.Gly337=) n.453C>A c.390C>A (p.Gly130=) c.1005C>A (p.Gly335=) c.264C>A (p.Gly88=) | |
8 | g.11756945C= | CA1764072314 | GATA4 | c.1008C= (p.Gly336=) c.1011C= (p.Gly337=) n.453C= c.390C= (p.Gly130=) c.1005C= (p.Gly335=) c.264C= (p.Gly88=) | |
8 | g.11756945C>G | CA459313590 | GATA4 | c.1008C>G (p.Gly336=) c.1011C>G (p.Gly337=) n.453C>G c.390C>G (p.Gly130=) c.1005C>G (p.Gly335=) c.264C>G (p.Gly88=) | |
8 | g.11756945C>T | CA459313587 | GATA4 | c.1008C>T (p.Gly336=) c.1011C>T (p.Gly337=) n.453C>T c.390C>T (p.Gly130=) c.1005C>T (p.Gly335=) c.264C>T (p.Gly88=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756945_11756948delinsCAGT | CA1764072316 | GATA4 | c.1008_1011delinsCAGT (p.Gly336=) c.1011_1014delinsCAGT (p.Gly337=) n.453_456delinsCAGT c.390_393delinsCAGT (p.Gly130=) c.1005_1008delinsCAGT (p.Gly335=) c.264_267delinsCAGT (p.Gly88=) | |
8 | g.11756946A>C | CA370314750 | GATA4 | c.1009A>C (p.Ser337Arg) c.1012A>C (p.Ser338Arg) n.454A>C c.391A>C (p.Ser131Arg) c.1006A>C (p.Ser336Arg) c.265A>C (p.Ser89Arg) | |
8 | g.11756946A>G | CA370314751 | GATA4 | c.1009A>G (p.Ser337Gly) c.1012A>G (p.Ser338Gly) n.454A>G c.391A>G (p.Ser131Gly) c.1006A>G (p.Ser336Gly) c.265A>G (p.Ser89Gly) | gnomAD v4 |
8 | g.11756946A>T | CA370314752 | GATA4 | c.1009A>T (p.Ser337Cys) c.1012A>T (p.Ser338Cys) n.454A>T c.391A>T (p.Ser131Cys) c.1006A>T (p.Ser336Cys) c.265A>T (p.Ser89Cys) | |
8 | g.11756946_11756948del | CA459313591 | GATA4 | c.1009_1011del (p.Ser337del) c.1012_1014del (p.Ser338del) n.454_456del c.391_393del (p.Ser131del) c.1006_1008del (p.Ser336del) c.265_267del (p.Ser89del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11756947G>A | CA4630800 | GATA4 | c.1010G>A (p.Ser337Asn) c.1013G>A (p.Ser338Asn) n.455G>A c.392G>A (p.Ser131Asn) c.1007G>A (p.Ser336Asn) c.266G>A (p.Ser89Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756947G>C | CA370314753 | GATA4 | c.1010G>C (p.Ser337Thr) c.1013G>C (p.Ser338Thr) n.455G>C c.392G>C (p.Ser131Thr) c.1007G>C (p.Ser336Thr) c.266G>C (p.Ser89Thr) | |
8 | g.11756947G= | CA1764072323 | GATA4 | c.1010G= (p.Ser337=) c.1013G= (p.Ser338=) n.455G= c.392G= (p.Ser131=) c.1007G= (p.Ser336=) c.266G= (p.Ser89=) | |
8 | g.11756947G>T | CA370314754 | GATA4 | c.1010G>T (p.Ser337Ile) c.1013G>T (p.Ser338Ile) n.455G>T c.392G>T (p.Ser131Ile) c.1007G>T (p.Ser336Ile) c.266G>T (p.Ser89Ile) | gnomAD v4 |
8 | g.11756947_11756949del | CA370314755 | GATA4 | c.1010_1012del (p.Ser337_Glu338delinsLys) c.1013_1015del (p.Ser338_Glu339delinsLys) n.455_457del c.392_394del (p.Ser131_Glu132delinsLys) c.1007_1009del (p.Ser336_Glu337delinsLys) c.266_268del (p.Ser89_Glu90delinsLys) | |
8 | g.11756948del | CA2573142545 | GATA4 | c.1011del (p.Ser337ArgfsTer?) c.1014del (p.Ser338ArgfsTer?) n.456del c.393del (p.Ser131ArgfsTer?) c.1008del (p.Ser336ArgfsTer?) c.267del (p.Ser89ArgfsTer?) | ClinVar dbSNP |
8 | g.11756948T>A | CA370314756 | GATA4 | c.1011T>A (p.Ser337Arg) c.1014T>A (p.Ser338Arg) n.456T>A c.393T>A (p.Ser131Arg) c.1008T>A (p.Ser336Arg) c.267T>A (p.Ser89Arg) | |
8 | g.11756948T>C | CA459313594 | GATA4 | c.1011T>C (p.Ser337=) c.1014T>C (p.Ser338=) n.456T>C c.393T>C (p.Ser131=) c.1008T>C (p.Ser336=) c.267T>C (p.Ser89=) | |
8 | g.11756948T>G | CA370314757 | GATA4 | c.1011T>G (p.Ser337Arg) c.1014T>G (p.Ser338Arg) n.456T>G c.393T>G (p.Ser131Arg) c.1008T>G (p.Ser336Arg) c.267T>G (p.Ser89Arg) | |
8 | g.11756949G>A | CA370314758 | GATA4 | c.1012G>A (p.Glu338Lys) c.1015G>A (p.Glu339Lys) n.457G>A c.394G>A (p.Glu132Lys) c.1009G>A (p.Glu337Lys) c.268G>A (p.Glu90Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756949G>C | CA370314760 | GATA4 | c.1012G>C (p.Glu338Gln) c.1015G>C (p.Glu339Gln) n.457G>C c.394G>C (p.Glu132Gln) c.1009G>C (p.Glu337Gln) c.268G>C (p.Glu90Gln) | gnomAD v4 |
8 | g.11756949G= | CA1764072326 | GATA4 | c.1012G= (p.Glu338=) c.1015G= (p.Glu339=) n.457G= c.394G= (p.Glu132=) c.1009G= (p.Glu337=) c.268G= (p.Glu90=) | |
8 | g.11756949G>T | CA370314763 | GATA4 | c.1012G>T (p.Glu338Ter) c.1015G>T (p.Glu339Ter) n.457G>T c.394G>T (p.Glu132Ter) c.1009G>T (p.Glu337Ter) c.268G>T (p.Glu90Ter) | |
8 | g.11756950A>C | CA370314764 | GATA4 | c.1013A>C (p.Glu338Ala) c.1016A>C (p.Glu339Ala) n.458A>C c.395A>C (p.Glu132Ala) c.1010A>C (p.Glu337Ala) c.269A>C (p.Glu90Ala) | |
8 | g.11756950A>G | CA370314765 | GATA4 | c.1013A>G (p.Glu338Gly) c.1016A>G (p.Glu339Gly) n.458A>G c.395A>G (p.Glu132Gly) c.1010A>G (p.Glu337Gly) c.269A>G (p.Glu90Gly) | |
8 | g.11756950A>T | CA370314766 | GATA4 | c.1013A>T (p.Glu338Val) c.1016A>T (p.Glu339Val) n.458A>T c.395A>T (p.Glu132Val) c.1010A>T (p.Glu337Val) c.269A>T (p.Glu90Val) | |
8 | g.11756951G>A | CA4630801 | GATA4 | c.1014G>A (p.Glu338=) c.1017G>A (p.Glu339=) n.459G>A c.396G>A (p.Glu132=) c.1011G>A (p.Glu337=) c.270G>A (p.Glu90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756951G>C | CA370314767 | GATA4 | c.1014G>C (p.Glu338Asp) c.1017G>C (p.Glu339Asp) n.459G>C c.396G>C (p.Glu132Asp) c.1011G>C (p.Glu337Asp) c.270G>C (p.Glu90Asp) | |
8 | g.11756951G= | CA1764072328 | GATA4 | c.1014G= (p.Glu338=) c.1017G= (p.Glu339=) n.459G= c.396G= (p.Glu132=) c.1011G= (p.Glu337=) c.270G= (p.Glu90=) | |
8 | g.11756951G>T | CA370314769 | GATA4 | c.1014G>T (p.Glu338Asp) c.1017G>T (p.Glu339Asp) n.459G>T c.396G>T (p.Glu132Asp) c.1011G>T (p.Glu337Asp) c.270G>T (p.Glu90Asp) | |
8 | g.11756952A= | CA1764072331 | GATA4 | c.1015A= (p.Ser339=) c.1018A= (p.Ser340=) n.460A= c.397A= (p.Ser133=) c.1012A= (p.Ser338=) c.271A= (p.Ser91=) | |
8 | g.11756952A>C | CA370314770 | GATA4 | c.1015A>C (p.Ser339Arg) c.1018A>C (p.Ser340Arg) n.460A>C c.397A>C (p.Ser133Arg) c.1012A>C (p.Ser338Arg) c.271A>C (p.Ser91Arg) | gnomAD v4 |
8 | g.11756952A>G | CA4630802 | GATA4 | c.1015A>G (p.Ser339Gly) c.1018A>G (p.Ser340Gly) n.460A>G c.397A>G (p.Ser133Gly) c.1012A>G (p.Ser338Gly) c.271A>G (p.Ser91Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11756952A>T | CA370314772 | GATA4 | c.1015A>T (p.Ser339Cys) c.1018A>T (p.Ser340Cys) n.460A>T c.397A>T (p.Ser133Cys) c.1012A>T (p.Ser338Cys) c.271A>T (p.Ser91Cys) | |
8 | g.11756953G>A | CA370314776 | GATA4 | c.1016G>A (p.Ser339Asn) c.1019G>A (p.Ser340Asn) n.461G>A c.398G>A (p.Ser133Asn) c.1013G>A (p.Ser338Asn) c.272G>A (p.Ser91Asn) | gnomAD v4 |
8 | g.11756953G>C | CA370314778 | GATA4 | c.1016G>C (p.Ser339Thr) c.1019G>C (p.Ser340Thr) n.461G>C c.398G>C (p.Ser133Thr) c.1013G>C (p.Ser338Thr) c.272G>C (p.Ser91Thr) | gnomAD v4 |
8 | g.11756953G= | CA1764072336 | GATA4 | c.1016G= (p.Ser339=) c.1019G= (p.Ser340=) n.461G= c.398G= (p.Ser133=) c.1013G= (p.Ser338=) c.272G= (p.Ser91=) | |
8 | g.11756953G>T | CA370314774 | GATA4 | c.1016G>T (p.Ser339Ile) c.1019G>T (p.Ser340Ile) n.461G>T c.398G>T (p.Ser133Ile) c.1013G>T (p.Ser338Ile) c.272G>T (p.Ser91Ile) | dbSNP |
8 | g.11756954C>A | CA370314780 | GATA4 | c.1017C>A (p.Ser339Arg) c.1020C>A (p.Ser340Arg) n.462C>A c.399C>A (p.Ser133Arg) c.1014C>A (p.Ser338Arg) c.273C>A (p.Ser91Arg) | gnomAD v4 |
8 | g.11756954C= | CA1764072338 | GATA4 | c.1017C= (p.Ser339=) c.1020C= (p.Ser340=) n.462C= c.399C= (p.Ser133=) c.1014C= (p.Ser338=) c.273C= (p.Ser91=) | |
8 | g.11756954C>G | CA172120329 | GATA4 | c.1017C>G (p.Ser339Arg) c.1020C>G (p.Ser340Arg) n.462C>G c.399C>G (p.Ser133Arg) c.1014C>G (p.Ser338Arg) c.273C>G (p.Ser91Arg) | dbSNP gnomAD v4 |
8 | g.11756954C>T | CA459313600 | GATA4 | c.1017C>T (p.Ser339=) c.1020C>T (p.Ser340=) n.462C>T c.399C>T (p.Ser133=) c.1014C>T (p.Ser338=) c.273C>T (p.Ser91=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756955C>A | CA370314781 | GATA4 | c.1018C>A (p.Leu340Ile) c.1021C>A (p.Leu341Ile) n.463C>A c.400C>A (p.Leu134Ile) c.1015C>A (p.Leu339Ile) c.274C>A (p.Leu92Ile) | |
8 | g.11756955C>G | CA370314782 | GATA4 | c.1018C>G (p.Leu340Val) c.1021C>G (p.Leu341Val) n.463C>G c.400C>G (p.Leu134Val) c.1015C>G (p.Leu339Val) c.274C>G (p.Leu92Val) | gnomAD v4 |
8 | g.11756955C>T | CA370314783 | GATA4 | c.1018C>T (p.Leu340Phe) c.1021C>T (p.Leu341Phe) n.463C>T c.400C>T (p.Leu134Phe) c.1015C>T (p.Leu339Phe) c.274C>T (p.Leu92Phe) | COSMIC |
8 | g.11756956T>A | CA370314785 | GATA4 | c.1019T>A (p.Leu340His) c.1022T>A (p.Leu341His) n.464T>A c.401T>A (p.Leu134His) c.1016T>A (p.Leu339His) c.275T>A (p.Leu92His) | |
8 | g.11756956T>C | CA370314786 | GATA4 | c.1019T>C (p.Leu340Pro) c.1022T>C (p.Leu341Pro) n.464T>C c.401T>C (p.Leu134Pro) c.1016T>C (p.Leu339Pro) c.275T>C (p.Leu92Pro) | |
8 | g.11756956T>G | CA370314788 | GATA4 | c.1019T>G (p.Leu340Arg) c.1022T>G (p.Leu341Arg) n.464T>G c.401T>G (p.Leu134Arg) c.1016T>G (p.Leu339Arg) c.275T>G (p.Leu92Arg) | |
8 | g.11756957T>A | CA459313602 | GATA4 | c.1020T>A (p.Leu340=) c.1023T>A (p.Leu341=) n.465T>A c.402T>A (p.Leu134=) c.1017T>A (p.Leu339=) c.276T>A (p.Leu92=) | |
8 | g.11756957T>C | CA459313603 | GATA4 | c.1020T>C (p.Leu340=) c.1023T>C (p.Leu341=) n.465T>C c.402T>C (p.Leu134=) c.1017T>C (p.Leu339=) c.276T>C (p.Leu92=) | |
8 | g.11756957T>G | CA459313604 | GATA4 | c.1020T>G (p.Leu340=) c.1023T>G (p.Leu341=) n.465T>G c.402T>G (p.Leu134=) c.1017T>G (p.Leu339=) c.276T>G (p.Leu92=) | |
8 | g.11756958C>A | CA370314789 | GATA4 | c.1021C>A (p.Pro341Thr) c.1024C>A (p.Pro342Thr) n.466C>A c.403C>A (p.Pro135Thr) c.1018C>A (p.Pro340Thr) c.277C>A (p.Pro93Thr) | |
8 | g.11756958C= | CA1764072341 | GATA4 | c.1021C= (p.Pro341=) c.1024C= (p.Pro342=) n.466C= c.403C= (p.Pro135=) c.1018C= (p.Pro340=) c.277C= (p.Pro93=) | |
8 | g.11756958C>G | CA370314794 | GATA4 | c.1021C>G (p.Pro341Ala) c.1024C>G (p.Pro342Ala) n.466C>G c.403C>G (p.Pro135Ala) c.1018C>G (p.Pro340Ala) c.277C>G (p.Pro93Ala) | |
8 | g.11756958C>T | CA370314792 | GATA4 | c.1021C>T (p.Pro341Ser) c.1024C>T (p.Pro342Ser) n.466C>T c.403C>T (p.Pro135Ser) c.1018C>T (p.Pro340Ser) c.277C>T (p.Pro93Ser) | dbSNP COSMIC |
8 | g.11756959C>A | CA370314796 | GATA4 | c.1022C>A (p.Pro341His) c.1025C>A (p.Pro342His) n.467C>A c.404C>A (p.Pro135His) c.1019C>A (p.Pro340His) c.278C>A (p.Pro93His) | |
8 | g.11756959C= | CA1764072343 | GATA4 | c.1022C= (p.Pro341=) c.1025C= (p.Pro342=) n.467C= c.404C= (p.Pro135=) c.1019C= (p.Pro340=) c.278C= (p.Pro93=) | |
8 | g.11756959C>G | CA370314798 | GATA4 | c.1022C>G (p.Pro341Arg) c.1025C>G (p.Pro342Arg) n.467C>G c.404C>G (p.Pro135Arg) c.1019C>G (p.Pro340Arg) c.278C>G (p.Pro93Arg) | |
8 | g.11756959C>T | CA370314800 | GATA4 | c.1022C>T (p.Pro341Leu) c.1025C>T (p.Pro342Leu) n.467C>T c.404C>T (p.Pro135Leu) c.1019C>T (p.Pro340Leu) c.278C>T (p.Pro93Leu) | dbSNP gnomAD v4 |
8 | g.11756960T>A | CA459313606 | GATA4 | c.1023T>A (p.Pro341=) c.1026T>A (p.Pro342=) n.468T>A c.405T>A (p.Pro135=) c.1020T>A (p.Pro340=) c.279T>A (p.Pro93=) | |
8 | g.11756960T>C | CA4630803 | GATA4 | c.1023T>C (p.Pro341=) c.1026T>C (p.Pro342=) n.468T>C c.405T>C (p.Pro135=) c.1020T>C (p.Pro340=) c.279T>C (p.Pro93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756960T>G | CA459313607 | GATA4 | c.1023T>G (p.Pro341=) c.1026T>G (p.Pro342=) n.468T>G c.405T>G (p.Pro135=) c.1020T>G (p.Pro340=) c.279T>G (p.Pro93=) | |
8 | g.11756960T= | CA1764072347 | GATA4 | c.1023T= (p.Pro341=) c.1026T= (p.Pro342=) n.468T= c.405T= (p.Pro135=) c.1020T= (p.Pro340=) c.279T= (p.Pro93=) | |
8 | g.11756961C>A | CA370314804 | GATA4 | c.1024C>A (p.Pro342Thr) c.1027C>A (p.Pro343Thr) n.469C>A c.406C>A (p.Pro136Thr) c.1021C>A (p.Pro341Thr) c.280C>A (p.Pro94Thr) | |
8 | g.11756961C= | CA1764072354 | GATA4 | c.1024C= (p.Pro342=) c.1027C= (p.Pro343=) n.469C= c.406C= (p.Pro136=) c.1021C= (p.Pro341=) c.280C= (p.Pro94=) | |
8 | g.11756961C>G | CA370314803 | GATA4 | c.1024C>G (p.Pro342Ala) c.1027C>G (p.Pro343Ala) n.469C>G c.406C>G (p.Pro136Ala) c.1021C>G (p.Pro341Ala) c.280C>G (p.Pro94Ala) | |
8 | g.11756961C>T | CA172120334 | GATA4 | c.1024C>T (p.Pro342Ser) c.1027C>T (p.Pro343Ser) n.469C>T c.406C>T (p.Pro136Ser) c.1021C>T (p.Pro341Ser) c.280C>T (p.Pro94Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756962C>A | CA370314806 | GATA4 | c.1025C>A (p.Pro342His) c.1028C>A (p.Pro343His) n.470C>A c.407C>A (p.Pro136His) c.1022C>A (p.Pro341His) c.281C>A (p.Pro94His) | |
8 | g.11756962C>G | CA370314808 | GATA4 | c.1025C>G (p.Pro342Arg) c.1028C>G (p.Pro343Arg) n.470C>G c.407C>G (p.Pro136Arg) c.1022C>G (p.Pro341Arg) c.281C>G (p.Pro94Arg) | |
8 | g.11756962C>T | CA370314809 | GATA4 | c.1025C>T (p.Pro342Leu) c.1028C>T (p.Pro343Leu) n.470C>T c.407C>T (p.Pro136Leu) c.1022C>T (p.Pro341Leu) c.281C>T (p.Pro94Leu) | gnomAD v4 |
8 | g.11756963C>A | CA459313612 | GATA4 | c.1026C>A (p.Pro342=) c.1029C>A (p.Pro343=) n.471C>A c.408C>A (p.Pro136=) c.1023C>A (p.Pro341=) c.282C>A (p.Pro94=) | |
8 | g.11756963C= | CA1764072356 | GATA4 | c.1026C= (p.Pro342=) c.1029C= (p.Pro343=) n.471C= c.408C= (p.Pro136=) c.1023C= (p.Pro341=) c.282C= (p.Pro94=) | |
8 | g.11756963C>G | CA459313613 | GATA4 | c.1026C>G (p.Pro342=) c.1029C>G (p.Pro343=) n.471C>G c.408C>G (p.Pro136=) c.1023C>G (p.Pro341=) c.282C>G (p.Pro94=) | |
8 | g.11756963C>T | CA4630804 | GATA4 | c.1026C>T (p.Pro342=) c.1029C>T (p.Pro343=) n.471C>T c.408C>T (p.Pro136=) c.1023C>T (p.Pro341=) c.282C>T (p.Pro94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756964G>A | CA4630805 | GATA4 | c.1027G>A (p.Ala343Thr) c.1030G>A (p.Ala344Thr) n.472G>A c.409G>A (p.Ala137Thr) c.1024G>A (p.Ala342Thr) c.283G>A (p.Ala95Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756964G>C | CA370314812 | GATA4 | c.1027G>C (p.Ala343Pro) c.1030G>C (p.Ala344Pro) n.472G>C c.409G>C (p.Ala137Pro) c.1024G>C (p.Ala342Pro) c.283G>C (p.Ala95Pro) | |
8 | g.11756964G= | CA1764072358 | GATA4 | c.1027G= (p.Ala343=) c.1030G= (p.Ala344=) n.472G= c.409G= (p.Ala137=) c.1024G= (p.Ala342=) c.283G= (p.Ala95=) | |
8 | g.11756964G>T | CA370314814 | GATA4 | c.1027G>T (p.Ala343Ser) c.1030G>T (p.Ala344Ser) n.472G>T c.409G>T (p.Ala137Ser) c.1024G>T (p.Ala342Ser) c.283G>T (p.Ala95Ser) | gnomAD v4 |
8 | g.11756965C>A | CA370314816 | GATA4 | c.1028C>A (p.Ala343Asp) c.1031C>A (p.Ala344Asp) n.473C>A c.410C>A (p.Ala137Asp) c.1025C>A (p.Ala342Asp) c.284C>A (p.Ala95Asp) | |
8 | g.11756965C= | CA1764072361 | GATA4 | c.1028C= (p.Ala343=) c.1031C= (p.Ala344=) n.473C= c.410C= (p.Ala137=) c.1025C= (p.Ala342=) c.284C= (p.Ala95=) | |
8 | g.11756965C>G | CA370314817 | GATA4 | c.1028C>G (p.Ala343Gly) c.1031C>G (p.Ala344Gly) n.473C>G c.410C>G (p.Ala137Gly) c.1025C>G (p.Ala342Gly) c.284C>G (p.Ala95Gly) | |
8 | g.11756965C>T | CA370314818 | GATA4 | c.1028C>T (p.Ala343Val) c.1031C>T (p.Ala344Val) n.473C>T c.410C>T (p.Ala137Val) c.1025C>T (p.Ala342Val) c.284C>T (p.Ala95Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756966C>A | CA459313619 | GATA4 | c.1029C>A (p.Ala343=) c.1032C>A (p.Ala344=) n.474C>A c.411C>A (p.Ala137=) c.1026C>A (p.Ala342=) c.285C>A (p.Ala95=) | |
8 | g.11756966C>G | CA459313617 | GATA4 | c.1029C>G (p.Ala343=) c.1032C>G (p.Ala344=) n.474C>G c.411C>G (p.Ala137=) c.1026C>G (p.Ala342=) c.285C>G (p.Ala95=) | |
8 | g.11756966C>T | CA459313618 | GATA4 | c.1029C>T (p.Ala343=) c.1032C>T (p.Ala344=) n.474C>T c.411C>T (p.Ala137=) c.1026C>T (p.Ala342=) c.285C>T (p.Ala95=) | gnomAD v4 |
8 | g.11756967A>C | CA370314819 | GATA4 | c.1030A>C (p.Ser344Arg) c.1033A>C (p.Ser345Arg) n.475A>C c.412A>C (p.Ser138Arg) c.1027A>C (p.Ser343Arg) c.286A>C (p.Ser96Arg) | |
8 | g.11756967A>G | CA370314821 | GATA4 | c.1030A>G (p.Ser344Gly) c.1033A>G (p.Ser345Gly) n.475A>G c.412A>G (p.Ser138Gly) c.1027A>G (p.Ser343Gly) c.286A>G (p.Ser96Gly) | gnomAD v4 |
8 | g.11756967A>T | CA370314823 | GATA4 | c.1030A>T (p.Ser344Cys) c.1033A>T (p.Ser345Cys) n.475A>T c.412A>T (p.Ser138Cys) c.1027A>T (p.Ser343Cys) c.286A>T (p.Ser96Cys) | |
8 | g.11756968G>A | CA370314826 | GATA4 | c.1031G>A (p.Ser344Asn) c.1034G>A (p.Ser345Asn) n.476G>A c.413G>A (p.Ser138Asn) c.1028G>A (p.Ser343Asn) c.287G>A (p.Ser96Asn) | |
8 | g.11756968G>C | CA370314829 | GATA4 | c.1031G>C (p.Ser344Thr) c.1034G>C (p.Ser345Thr) n.476G>C c.413G>C (p.Ser138Thr) c.1028G>C (p.Ser343Thr) c.287G>C (p.Ser96Thr) | gnomAD v4 |
8 | g.11756968G>T | CA370314827 | GATA4 | c.1031G>T (p.Ser344Ile) c.1034G>T (p.Ser345Ile) n.476G>T c.413G>T (p.Ser138Ile) c.1028G>T (p.Ser343Ile) c.287G>T (p.Ser96Ile) | |
8 | g.11756969C>A | CA370314832 | GATA4 | c.1032C>A (p.Ser344Arg) c.1035C>A (p.Ser345Arg) n.477C>A c.414C>A (p.Ser138Arg) c.1029C>A (p.Ser343Arg) c.288C>A (p.Ser96Arg) | |
8 | g.11756969C= | CA1764072367 | GATA4 | c.1032C= (p.Ser344=) c.1035C= (p.Ser345=) n.477C= c.414C= (p.Ser138=) c.1029C= (p.Ser343=) c.288C= (p.Ser96=) | |
8 | g.11756969C>G | CA370314835 | GATA4 | c.1032C>G (p.Ser344Arg) c.1035C>G (p.Ser345Arg) n.477C>G c.414C>G (p.Ser138Arg) c.1029C>G (p.Ser343Arg) c.288C>G (p.Ser96Arg) | |
8 | g.11756969C>T | CA4630806 | GATA4 | c.1032C>T (p.Ser344=) c.1035C>T (p.Ser345=) n.477C>T c.414C>T (p.Ser138=) c.1029C>T (p.Ser343=) c.288C>T (p.Ser96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11756970G>A | CA4630807 | GATA4 | c.1033G>A (p.Gly345Ser) c.1036G>A (p.Gly346Ser) n.478G>A c.415G>A (p.Gly139Ser) c.1030G>A (p.Gly344Ser) c.289G>A (p.Gly97Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756970G>C | CA370314838 | GATA4 | c.1033G>C (p.Gly345Arg) c.1036G>C (p.Gly346Arg) n.478G>C c.415G>C (p.Gly139Arg) c.1030G>C (p.Gly344Arg) c.289G>C (p.Gly97Arg) | |
8 | g.11756970G= | CA1764072373 | GATA4 | c.1033G= (p.Gly345=) c.1036G= (p.Gly346=) n.478G= c.415G= (p.Gly139=) c.1030G= (p.Gly344=) c.289G= (p.Gly97=) | |
8 | g.11756970G>T | CA370314839 | GATA4 | c.1033G>T (p.Gly345Cys) c.1036G>T (p.Gly346Cys) n.478G>T c.415G>T (p.Gly139Cys) c.1030G>T (p.Gly344Cys) c.289G>T (p.Gly97Cys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756971G>A | CA370314842 | GATA4 | c.1034G>A (p.Gly345Asp) c.1037G>A (p.Gly346Asp) n.479G>A c.416G>A (p.Gly139Asp) c.1031G>A (p.Gly344Asp) c.290G>A (p.Gly97Asp) | |
8 | g.11756971G>C | CA370314844 | GATA4 | c.1034G>C (p.Gly345Ala) c.1037G>C (p.Gly346Ala) n.479G>C c.416G>C (p.Gly139Ala) c.1031G>C (p.Gly344Ala) c.290G>C (p.Gly97Ala) | |
8 | g.11756971G>T | CA370314846 | GATA4 | c.1034G>T (p.Gly345Val) c.1037G>T (p.Gly346Val) n.479G>T c.416G>T (p.Gly139Val) c.1031G>T (p.Gly344Val) c.290G>T (p.Gly97Val) | gnomAD v4 |
8 | g.11756972T>A | CA459313625 | GATA4 | c.1035T>A (p.Gly345=) c.1038T>A (p.Gly346=) n.480T>A c.417T>A (p.Gly139=) c.1032T>A (p.Gly344=) c.291T>A (p.Gly97=) | |
8 | g.11756972T>C | CA459313624 | GATA4 | c.1035T>C (p.Gly345=) c.1038T>C (p.Gly346=) n.480T>C c.417T>C (p.Gly139=) c.1032T>C (p.Gly344=) c.291T>C (p.Gly97=) | |
8 | g.11756972T>G | CA459313626 | GATA4 | c.1035T>G (p.Gly345=) c.1038T>G (p.Gly346=) n.480T>G c.417T>G (p.Gly139=) c.1032T>G (p.Gly344=) c.291T>G (p.Gly97=) | gnomAD v4 |
8 | g.11756973G>A | CA4630808 | GATA4 | c.1036G>A (p.Ala346Thr) c.1039G>A (p.Ala347Thr) n.481G>A c.418G>A (p.Ala140Thr) c.1033G>A (p.Ala345Thr) c.292G>A (p.Ala98Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756973G>C | CA370314851 | GATA4 | c.1036G>C (p.Ala346Pro) c.1039G>C (p.Ala347Pro) n.481G>C c.418G>C (p.Ala140Pro) c.1033G>C (p.Ala345Pro) c.292G>C (p.Ala98Pro) | dbSNP gnomAD v4 |
8 | g.11756973G= | CA1764072379 | GATA4 | c.1036G= (p.Ala346=) c.1039G= (p.Ala347=) n.481G= c.418G= (p.Ala140=) c.1033G= (p.Ala345=) c.292G= (p.Ala98=) | |
8 | g.11756973G>T | CA370314853 | GATA4 | c.1036G>T (p.Ala346Ser) c.1039G>T (p.Ala347Ser) n.481G>T c.418G>T (p.Ala140Ser) c.1033G>T (p.Ala345Ser) c.292G>T (p.Ala98Ser) | |
8 | g.11756974C>A | CA370314858 | GATA4 | c.1037C>A (p.Ala346Asp) c.1040C>A (p.Ala347Asp) n.482C>A c.419C>A (p.Ala140Asp) c.1034C>A (p.Ala345Asp) c.293C>A (p.Ala98Asp) | |
8 | g.11756974C= | CA1764072385 | GATA4 | c.1037C= (p.Ala346=) c.1040C= (p.Ala347=) n.482C= c.419C= (p.Ala140=) c.1034C= (p.Ala345=) c.293C= (p.Ala98=) | |
8 | g.11756974C>G | CA370314855 | GATA4 | c.1037C>G (p.Ala346Gly) c.1040C>G (p.Ala347Gly) n.482C>G c.419C>G (p.Ala140Gly) c.1034C>G (p.Ala345Gly) c.293C>G (p.Ala98Gly) | |
8 | g.11756974C>T | CA212670 | GATA4 | c.1037C>T (p.Ala346Val) c.1040C>T (p.Ala347Val) n.482C>T c.419C>T (p.Ala140Val) c.1034C>T (p.Ala345Val) c.293C>T (p.Ala98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756975T>A | CA459313628 | GATA4 | c.1038T>A (p.Ala346=) c.1041T>A (p.Ala347=) n.483T>A c.420T>A (p.Ala140=) c.1035T>A (p.Ala345=) c.294T>A (p.Ala98=) | |
8 | g.11756975T>C | CA459313629 | GATA4 | c.1038T>C (p.Ala346=) c.1041T>C (p.Ala347=) n.483T>C c.420T>C (p.Ala140=) c.1035T>C (p.Ala345=) c.294T>C (p.Ala98=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756975T>G | CA459313630 | GATA4 | c.1038T>G (p.Ala346=) c.1041T>G (p.Ala347=) n.483T>G c.420T>G (p.Ala140=) c.1035T>G (p.Ala345=) c.294T>G (p.Ala98=) | |
8 | g.11756975T= | CA1764072390 | GATA4 | c.1038T= (p.Ala346=) c.1041T= (p.Ala347=) n.483T= c.420T= (p.Ala140=) c.1035T= (p.Ala345=) c.294T= (p.Ala98=) | |
8 | g.11756975_11756984delinsTTCCAGCAAC | CA1764072388 | GATA4 | c.1038_1047delinsTTCCAGCAAC (p.Ala346=) c.1041_1050delinsTTCCAGCAAC (p.Ala347=) n.483_492delinsTTCCAGCAAC c.420_429delinsTTCCAGCAAC (p.Ala140=) c.1035_1044delinsTTCCAGCAAC (p.Ala345=) c.294_303delinsTTCCAGCAAC (p.Ala98=) | |
8 | g.11756976T>A | CA370314859 | GATA4 | c.1039T>A (p.Ser347Thr) c.1042T>A (p.Ser348Thr) n.484T>A c.421T>A (p.Ser141Thr) c.1036T>A (p.Ser346Thr) c.295T>A (p.Ser99Thr) | |
8 | g.11756976T>C | CA370314861 | GATA4 | c.1039T>C (p.Ser347Pro) c.1042T>C (p.Ser348Pro) n.484T>C c.421T>C (p.Ser141Pro) c.1036T>C (p.Ser346Pro) c.295T>C (p.Ser99Pro) | |
8 | g.11756976T>G | CA370314866 | GATA4 | c.1039T>G (p.Ser347Ala) c.1042T>G (p.Ser348Ala) n.484T>G c.421T>G (p.Ser141Ala) c.1036T>G (p.Ser346Ala) c.295T>G (p.Ser99Ala) | |
8 | g.11756985_11756993del | CA579789161 | GATA4 | c.1048_1056del (p.Ser350_Asn352del) c.1051_1059del (p.Ser351_Asn353del) n.493_501del c.430_438del (p.Ser144_Asn146del) c.1045_1053del (p.Ser349_Asn351del) c.304_312del (p.Ser102_Asn104del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756977C>A | CA370314869 | GATA4 | c.1040C>A (p.Ser347Tyr) c.1043C>A (p.Ser348Tyr) n.485C>A c.422C>A (p.Ser141Tyr) c.1037C>A (p.Ser346Tyr) c.296C>A (p.Ser99Tyr) | |
8 | g.11756977C>G | CA370314871 | GATA4 | c.1040C>G (p.Ser347Cys) c.1043C>G (p.Ser348Cys) n.485C>G c.422C>G (p.Ser141Cys) c.1037C>G (p.Ser346Cys) c.296C>G (p.Ser99Cys) | |
8 | g.11756977C>T | CA370314872 | GATA4 | c.1040C>T (p.Ser347Phe) c.1043C>T (p.Ser348Phe) n.485C>T c.422C>T (p.Ser141Phe) c.1037C>T (p.Ser346Phe) c.296C>T (p.Ser99Phe) | |
8 | g.11756978C>A | CA459313632 | GATA4 | c.1041C>A (p.Ser347=) c.1044C>A (p.Ser348=) n.486C>A c.423C>A (p.Ser141=) c.1038C>A (p.Ser346=) c.297C>A (p.Ser99=) | |
8 | g.11756978C>G | CA459313633 | GATA4 | c.1041C>G (p.Ser347=) c.1044C>G (p.Ser348=) n.486C>G c.423C>G (p.Ser141=) c.1038C>G (p.Ser346=) c.297C>G (p.Ser99=) | |
8 | g.11756978C>T | CA459313634 | GATA4 | c.1041C>T (p.Ser347=) c.1044C>T (p.Ser348=) n.486C>T c.423C>T (p.Ser141=) c.1038C>T (p.Ser346=) c.297C>T (p.Ser99=) | |
8 | g.11756979A>C | CA370314874 | GATA4 | c.1042A>C (p.Ser348Arg) c.1045A>C (p.Ser349Arg) n.487A>C c.424A>C (p.Ser142Arg) c.1039A>C (p.Ser347Arg) c.298A>C (p.Ser100Arg) | |
8 | g.11756979A>G | CA370314876 | GATA4 | c.1042A>G (p.Ser348Gly) c.1045A>G (p.Ser349Gly) n.487A>G c.424A>G (p.Ser142Gly) c.1039A>G (p.Ser347Gly) c.298A>G (p.Ser100Gly) | |
8 | g.11756979A>T | CA370314877 | GATA4 | c.1042A>T (p.Ser348Cys) c.1045A>T (p.Ser349Cys) n.487A>T c.424A>T (p.Ser142Cys) c.1039A>T (p.Ser347Cys) c.298A>T (p.Ser100Cys) | |
8 | g.11756980G>A | CA370314879 | GATA4 | c.1043G>A (p.Ser348Asn) c.1046G>A (p.Ser349Asn) n.488G>A c.425G>A (p.Ser142Asn) c.1040G>A (p.Ser347Asn) c.299G>A (p.Ser100Asn) | gnomAD v4 |
8 | g.11756980G>C | CA370314881 | GATA4 | c.1043G>C (p.Ser348Thr) c.1046G>C (p.Ser349Thr) n.488G>C c.425G>C (p.Ser142Thr) c.1040G>C (p.Ser347Thr) c.299G>C (p.Ser100Thr) | |
8 | g.11756980G= | CA1764072395 | GATA4 | c.1043G= (p.Ser348=) c.1046G= (p.Ser349=) n.488G= c.425G= (p.Ser142=) c.1040G= (p.Ser347=) c.299G= (p.Ser100=) | |
8 | g.11756980G>T | CA370314883 | GATA4 | c.1043G>T (p.Ser348Ile) c.1046G>T (p.Ser349Ile) n.488G>T c.425G>T (p.Ser142Ile) c.1040G>T (p.Ser347Ile) c.299G>T (p.Ser100Ile) | dbSNP |
8 | g.11756981C>A | CA370314884 | GATA4 | c.1044C>A (p.Ser348Arg) c.1047C>A (p.Ser349Arg) n.489C>A c.426C>A (p.Ser142Arg) c.1041C>A (p.Ser347Arg) c.300C>A (p.Ser100Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756981C= | CA1764072397 | GATA4 | c.1044C= (p.Ser348=) c.1047C= (p.Ser349=) n.489C= c.426C= (p.Ser142=) c.1041C= (p.Ser347=) c.300C= (p.Ser100=) | |
8 | g.11756981C>G | CA370314885 | GATA4 | c.1044C>G (p.Ser348Arg) c.1047C>G (p.Ser349Arg) n.489C>G c.426C>G (p.Ser142Arg) c.1041C>G (p.Ser347Arg) c.300C>G (p.Ser100Arg) | |
8 | g.11756981C>T | CA459313637 | GATA4 | c.1044C>T (p.Ser348=) c.1047C>T (p.Ser349=) n.489C>T c.426C>T (p.Ser142=) c.1041C>T (p.Ser347=) c.300C>T (p.Ser100=) | gnomAD v4 |
8 | g.11756982A>C | CA370314887 | GATA4 | c.1045A>C (p.Asn349His) c.1048A>C (p.Asn350His) n.490A>C c.427A>C (p.Asn143His) c.1042A>C (p.Asn348His) c.301A>C (p.Asn101His) | |
8 | g.11756982A>G | CA370314891 | GATA4 | c.1045A>G (p.Asn349Asp) c.1048A>G (p.Asn350Asp) n.490A>G c.427A>G (p.Asn143Asp) c.1042A>G (p.Asn348Asp) c.301A>G (p.Asn101Asp) | gnomAD v4 |
8 | g.11756982A>T | CA370314889 | GATA4 | c.1045A>T (p.Asn349Tyr) c.1048A>T (p.Asn350Tyr) n.490A>T c.427A>T (p.Asn143Tyr) c.1042A>T (p.Asn348Tyr) c.301A>T (p.Asn101Tyr) | |
8 | g.11756983A>C | CA370314893 | GATA4 | c.1046A>C (p.Asn349Thr) c.1049A>C (p.Asn350Thr) n.491A>C c.428A>C (p.Asn143Thr) c.1043A>C (p.Asn348Thr) c.302A>C (p.Asn101Thr) | |
8 | g.11756983A>G | CA370314895 | GATA4 | c.1046A>G (p.Asn349Ser) c.1049A>G (p.Asn350Ser) n.491A>G c.428A>G (p.Asn143Ser) c.1043A>G (p.Asn348Ser) c.302A>G (p.Asn101Ser) | |
8 | g.11756983A>T | CA370314897 | GATA4 | c.1046A>T (p.Asn349Ile) c.1049A>T (p.Asn350Ile) n.491A>T c.428A>T (p.Asn143Ile) c.1043A>T (p.Asn348Ile) c.302A>T (p.Asn101Ile) | |
8 | g.11756984C>A | CA370314902 | GATA4 | c.1047C>A (p.Asn349Lys) c.1050C>A (p.Asn350Lys) n.492C>A c.429C>A (p.Asn143Lys) c.1044C>A (p.Asn348Lys) c.303C>A (p.Asn101Lys) | |
8 | g.11756984C>G | CA370314904 | GATA4 | c.1047C>G (p.Asn349Lys) c.1050C>G (p.Asn350Lys) n.492C>G c.429C>G (p.Asn143Lys) c.1044C>G (p.Asn348Lys) c.303C>G (p.Asn101Lys) | |
8 | g.11756984C>T | CA459313641 | GATA4 | c.1047C>T (p.Asn349=) c.1050C>T (p.Asn350=) n.492C>T c.429C>T (p.Asn143=) c.1044C>T (p.Asn348=) c.303C>T (p.Asn101=) | gnomAD v4 |
8 | g.11756985T>A | CA370314906 | GATA4 | c.1048T>A (p.Ser350Thr) c.1051T>A (p.Ser351Thr) n.493T>A c.430T>A (p.Ser144Thr) c.1045T>A (p.Ser349Thr) c.304T>A (p.Ser102Thr) | |
8 | g.11756985T>C | CA370314908 | GATA4 | c.1048T>C (p.Ser350Pro) c.1051T>C (p.Ser351Pro) n.493T>C c.430T>C (p.Ser144Pro) c.1045T>C (p.Ser349Pro) c.304T>C (p.Ser102Pro) | |
8 | g.11756985T>G | CA370314910 | GATA4 | c.1048T>G (p.Ser350Ala) c.1051T>G (p.Ser351Ala) n.493T>G c.430T>G (p.Ser144Ala) c.1045T>G (p.Ser349Ala) c.304T>G (p.Ser102Ala) | |
8 | g.11756986C>A | CA370314911 | GATA4 | c.1049C>A (p.Ser350Tyr) c.1052C>A (p.Ser351Tyr) n.494C>A c.431C>A (p.Ser144Tyr) c.1046C>A (p.Ser349Tyr) c.305C>A (p.Ser102Tyr) | |
8 | g.11756986C>G | CA370314912 | GATA4 | c.1049C>G (p.Ser350Cys) c.1052C>G (p.Ser351Cys) n.494C>G c.431C>G (p.Ser144Cys) c.1046C>G (p.Ser349Cys) c.305C>G (p.Ser102Cys) | |
8 | g.11756986C>T | CA370314913 | GATA4 | c.1049C>T (p.Ser350Phe) c.1052C>T (p.Ser351Phe) n.494C>T c.431C>T (p.Ser144Phe) c.1046C>T (p.Ser349Phe) c.305C>T (p.Ser102Phe) | |
8 | g.11756987C>A | CA459313642 | GATA4 | c.1050C>A (p.Ser350=) c.1053C>A (p.Ser351=) n.495C>A c.432C>A (p.Ser144=) c.1047C>A (p.Ser349=) c.306C>A (p.Ser102=) | |
8 | g.11756987C= | CA1764072399 | GATA4 | c.1050C= (p.Ser350=) c.1053C= (p.Ser351=) n.495C= c.432C= (p.Ser144=) c.1047C= (p.Ser349=) c.306C= (p.Ser102=) | |
8 | g.11756987C>G | CA459313643 | GATA4 | c.1050C>G (p.Ser350=) c.1053C>G (p.Ser351=) n.495C>G c.432C>G (p.Ser144=) c.1047C>G (p.Ser349=) c.306C>G (p.Ser102=) | |
8 | g.11756987C>T | CA4630809 | GATA4 | c.1050C>T (p.Ser350=) c.1053C>T (p.Ser351=) n.495C>T c.432C>T (p.Ser144=) c.1047C>T (p.Ser349=) c.306C>T (p.Ser102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756988A>C | CA370315320 | GATA4 | c.1051A>C (p.Ser351Arg) c.1054A>C (p.Ser352Arg) n.496A>C c.433A>C (p.Ser145Arg) c.1048A>C (p.Ser350Arg) c.307A>C (p.Ser103Arg) | |
8 | g.11756988A>G | CA370315318 | GATA4 | c.1051A>G (p.Ser351Gly) c.1054A>G (p.Ser352Gly) n.496A>G c.433A>G (p.Ser145Gly) c.1048A>G (p.Ser350Gly) c.307A>G (p.Ser103Gly) | ClinVar |
8 | g.11756988A>T | CA370315319 | GATA4 | c.1051A>T (p.Ser351Cys) c.1054A>T (p.Ser352Cys) n.496A>T c.433A>T (p.Ser145Cys) c.1048A>T (p.Ser350Cys) c.307A>T (p.Ser103Cys) | |
8 | g.11756989G>A | CA370315321 | GATA4 | c.1052G>A (p.Ser351Asn) c.1055G>A (p.Ser352Asn) n.497G>A c.434G>A (p.Ser145Asn) c.1049G>A (p.Ser350Asn) c.308G>A (p.Ser103Asn) | dbSNP |
8 | g.11756989G>C | CA370315322 | GATA4 | c.1052G>C (p.Ser351Thr) c.1055G>C (p.Ser352Thr) n.497G>C c.434G>C (p.Ser145Thr) c.1049G>C (p.Ser350Thr) c.308G>C (p.Ser103Thr) | |
8 | g.11756989G= | CA1764072402 | GATA4 | c.1052G= (p.Ser351=) c.1055G= (p.Ser352=) n.497G= c.434G= (p.Ser145=) c.1049G= (p.Ser350=) c.308G= (p.Ser103=) | |
8 | g.11756989G>T | CA370315323 | GATA4 | c.1052G>T (p.Ser351Ile) c.1055G>T (p.Ser352Ile) n.497G>T c.434G>T (p.Ser145Ile) c.1049G>T (p.Ser350Ile) c.308G>T (p.Ser103Ile) | |
8 | g.11756990C>A | CA370315324 | GATA4 | c.1053C>A (p.Ser351Arg) c.1056C>A (p.Ser352Arg) n.498C>A c.435C>A (p.Ser145Arg) c.1050C>A (p.Ser350Arg) c.309C>A (p.Ser103Arg) | COSMIC |
8 | g.11756990C= | CA1764072407 | GATA4 | c.1053C= (p.Ser351=) c.1056C= (p.Ser352=) n.498C= c.435C= (p.Ser145=) c.1050C= (p.Ser350=) c.309C= (p.Ser103=) | |
8 | g.11756990C>G | CA370315325 | GATA4 | c.1053C>G (p.Ser351Arg) c.1056C>G (p.Ser352Arg) n.498C>G c.435C>G (p.Ser145Arg) c.1050C>G (p.Ser350Arg) c.309C>G (p.Ser103Arg) | |
8 | g.11756990C>T | CA459313685 | GATA4 | c.1053C>T (p.Ser351=) c.1056C>T (p.Ser352=) n.498C>T c.435C>T (p.Ser145=) c.1050C>T (p.Ser350=) c.309C>T (p.Ser103=) | ClinVar dbSNP gnomAD v4 |
8 | g.11756991A>C | CA370315326 | GATA4 | c.1054A>C (p.Asn352His) c.1057A>C (p.Asn353His) n.499A>C c.436A>C (p.Asn146His) c.1051A>C (p.Asn351His) c.310A>C (p.Asn104His) | |
8 | g.11756991A>G | CA370315327 | GATA4 | c.1054A>G (p.Asn352Asp) c.1057A>G (p.Asn353Asp) n.499A>G c.436A>G (p.Asn146Asp) c.1051A>G (p.Asn351Asp) c.310A>G (p.Asn104Asp) | |
8 | g.11756991A>T | CA370315328 | GATA4 | c.1054A>T (p.Asn352Tyr) c.1057A>T (p.Asn353Tyr) n.499A>T c.436A>T (p.Asn146Tyr) c.1051A>T (p.Asn351Tyr) c.310A>T (p.Asn104Tyr) | |
8 | g.11756992A>C | CA370315329 | GATA4 | c.1055A>C (p.Asn352Thr) c.1058A>C (p.Asn353Thr) n.500A>C c.437A>C (p.Asn146Thr) c.1052A>C (p.Asn351Thr) c.311A>C (p.Asn104Thr) | |
8 | g.11756992A>G | CA370315330 | GATA4 | c.1055A>G (p.Asn352Ser) c.1058A>G (p.Asn353Ser) n.500A>G c.437A>G (p.Asn146Ser) c.1052A>G (p.Asn351Ser) c.311A>G (p.Asn104Ser) | |
8 | g.11756992A>T | CA370315331 | GATA4 | c.1055A>T (p.Asn352Ile) c.1058A>T (p.Asn353Ile) n.500A>T c.437A>T (p.Asn146Ile) c.1052A>T (p.Asn351Ile) c.311A>T (p.Asn104Ile) | |
8 | g.11756993C>A | CA370315333 | GATA4 | c.1056C>A (p.Asn352Lys) c.1059C>A (p.Asn353Lys) n.501C>A c.438C>A (p.Asn146Lys) c.1053C>A (p.Asn351Lys) c.312C>A (p.Asn104Lys) | dbSNP gnomAD v2 |
8 | g.11756993C= | CA1764072411 | GATA4 | c.1056C= (p.Asn352=) c.1059C= (p.Asn353=) n.501C= c.438C= (p.Asn146=) c.1053C= (p.Asn351=) c.312C= (p.Asn104=) | |
8 | g.11756993C>G | CA370315332 | GATA4 | c.1056C>G (p.Asn352Lys) c.1059C>G (p.Asn353Lys) n.501C>G c.438C>G (p.Asn146Lys) c.1053C>G (p.Asn351Lys) c.312C>G (p.Asn104Lys) | |
8 | g.11756993C>T | CA133991 | GATA4 | c.1056C>T (p.Asn352=) c.1059C>T (p.Asn353=) n.501C>T c.438C>T (p.Asn146=) c.1053C>T (p.Asn351=) c.312C>T (p.Asn104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756994G>A | CA4630810 | GATA4 | c.1057G>A (p.Ala353Thr) c.1060G>A (p.Ala354Thr) n.502G>A c.439G>A (p.Ala147Thr) c.1054G>A (p.Ala352Thr) c.313G>A (p.Ala105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11756994G>C | CA370315334 | GATA4 | c.1057G>C (p.Ala353Pro) c.1060G>C (p.Ala354Pro) n.502G>C c.439G>C (p.Ala147Pro) c.1054G>C (p.Ala352Pro) c.313G>C (p.Ala105Pro) | gnomAD v4 |
8 | g.11756994G= | CA1764072417 | GATA4 | c.1057G= (p.Ala353=) c.1060G= (p.Ala354=) n.502G= c.439G= (p.Ala147=) c.1054G= (p.Ala352=) c.313G= (p.Ala105=) | |
8 | g.11756994G>T | CA370315335 | GATA4 | c.1057G>T (p.Ala353Ser) c.1060G>T (p.Ala354Ser) n.502G>T c.439G>T (p.Ala147Ser) c.1054G>T (p.Ala352Ser) c.313G>T (p.Ala105Ser) | |
8 | g.11756995C>A | CA370315336 | GATA4 | c.1058C>A (p.Ala353Asp) c.1061C>A (p.Ala354Asp) n.503C>A c.440C>A (p.Ala147Asp) c.1055C>A (p.Ala352Asp) c.314C>A (p.Ala105Asp) | |
8 | g.11756995C>G | CA370315337 | GATA4 | c.1058C>G (p.Ala353Gly) c.1061C>G (p.Ala354Gly) n.503C>G c.440C>G (p.Ala147Gly) c.1055C>G (p.Ala352Gly) c.314C>G (p.Ala105Gly) | |
8 | g.11756995C>T | CA370315338 | GATA4 | c.1058C>T (p.Ala353Val) c.1061C>T (p.Ala354Val) n.503C>T c.440C>T (p.Ala147Val) c.1055C>T (p.Ala352Val) c.314C>T (p.Ala105Val) | |
8 | g.11756996C>A | CA459313689 | GATA4 | c.1059C>A (p.Ala353=) c.1062C>A (p.Ala354=) n.504C>A c.441C>A (p.Ala147=) c.1056C>A (p.Ala352=) c.315C>A (p.Ala105=) | |
8 | g.11756996C>G | CA459313688 | GATA4 | c.1059C>G (p.Ala353=) c.1062C>G (p.Ala354=) n.504C>G c.441C>G (p.Ala147=) c.1056C>G (p.Ala352=) c.315C>G (p.Ala105=) | |
8 | g.11756996C>T | CA459313687 | GATA4 | c.1059C>T (p.Ala353=) c.1062C>T (p.Ala354=) n.504C>T c.441C>T (p.Ala147=) c.1056C>T (p.Ala352=) c.315C>T (p.Ala105=) | gnomAD v4 |
8 | g.11756997A= | CA1764072423 | GATA4 | c.1060A= (p.Thr354=) c.1063A= (p.Thr355=) n.505A= c.442A= (p.Thr148=) c.1057A= (p.Thr353=) c.316A= (p.Thr106=) | |
8 | g.11756997A>C | CA370315339 | GATA4 | c.1060A>C (p.Thr354Pro) c.1063A>C (p.Thr355Pro) n.505A>C c.442A>C (p.Thr148Pro) c.1057A>C (p.Thr353Pro) c.316A>C (p.Thr106Pro) | gnomAD v4 |
8 | g.11756997A>G | CA370315340 | GATA4 | c.1060A>G (p.Thr354Ala) c.1063A>G (p.Thr355Ala) n.505A>G c.442A>G (p.Thr148Ala) c.1057A>G (p.Thr353Ala) c.316A>G (p.Thr106Ala) | dbSNP |
8 | g.11756997A>T | CA370315341 | GATA4 | c.1060A>T (p.Thr354Ser) c.1063A>T (p.Thr355Ser) n.505A>T c.442A>T (p.Thr148Ser) c.1057A>T (p.Thr353Ser) c.316A>T (p.Thr106Ser) | |
8 | g.11756998C>A | CA4630811 | GATA4 | c.1061C>A (p.Thr354Asn) c.1064C>A (p.Thr355Asn) n.506C>A c.443C>A (p.Thr148Asn) c.1058C>A (p.Thr353Asn) c.317C>A (p.Thr106Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11756998C= | CA1764072425 | GATA4 | c.1061C= (p.Thr354=) c.1064C= (p.Thr355=) n.506C= c.443C= (p.Thr148=) c.1058C= (p.Thr353=) c.317C= (p.Thr106=) | |
8 | g.11756998C>G | CA370315342 | GATA4 | c.1061C>G (p.Thr354Ser) c.1064C>G (p.Thr355Ser) n.506C>G c.443C>G (p.Thr148Ser) c.1058C>G (p.Thr353Ser) c.317C>G (p.Thr106Ser) | |
8 | g.11756998C>T | CA370315343 | GATA4 | c.1061C>T (p.Thr354Ile) c.1064C>T (p.Thr355Ile) n.506C>T c.443C>T (p.Thr148Ile) c.1058C>T (p.Thr353Ile) c.317C>T (p.Thr106Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11756999C>A | CA459313690 | GATA4 | c.1062C>A (p.Thr354=) c.1065C>A (p.Thr355=) n.507C>A c.444C>A (p.Thr148=) c.1059C>A (p.Thr353=) c.318C>A (p.Thr106=) | |
8 | g.11756999C= | CA1764072428 | GATA4 | c.1062C= (p.Thr354=) c.1065C= (p.Thr355=) n.507C= c.444C= (p.Thr148=) c.1059C= (p.Thr353=) c.318C= (p.Thr106=) | |
8 | g.11756999C>G | CA459313691 | GATA4 | c.1062C>G (p.Thr354=) c.1065C>G (p.Thr355=) n.507C>G c.444C>G (p.Thr148=) c.1059C>G (p.Thr353=) c.318C>G (p.Thr106=) | |
8 | g.11756999C>T | CA4630812 | GATA4 | c.1062C>T (p.Thr354=) c.1065C>T (p.Thr355=) n.507C>T c.444C>T (p.Thr148=) c.1059C>T (p.Thr353=) c.318C>T (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11757000A= | CA1764072430 | GATA4 | c.1063A= (p.Thr355=) c.1066A= (p.Thr356=) n.508A= c.445A= (p.Thr149=) c.1060A= (p.Thr354=) c.319A= (p.Thr107=) | |
8 | g.11757000A>C | CA370315346 | GATA4 | c.1063A>C (p.Thr355Pro) c.1066A>C (p.Thr356Pro) n.508A>C c.445A>C (p.Thr149Pro) c.1060A>C (p.Thr354Pro) c.319A>C (p.Thr107Pro) | |
8 | g.11757000A>G | CA370315344 | GATA4 | c.1063A>G (p.Thr355Ala) c.1066A>G (p.Thr356Ala) n.508A>G c.445A>G (p.Thr149Ala) c.1060A>G (p.Thr354Ala) c.319A>G (p.Thr107Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11757000A>T | CA370315345 | GATA4 | c.1063A>T (p.Thr355Ser) c.1066A>T (p.Thr356Ser) n.508A>T c.445A>T (p.Thr149Ser) c.1060A>T (p.Thr354Ser) c.319A>T (p.Thr107Ser) | |
8 | g.11757001C>A | CA370315347 | GATA4 | c.1064C>A (p.Thr355Asn) c.1067C>A (p.Thr356Asn) n.509C>A c.446C>A (p.Thr149Asn) c.1061C>A (p.Thr354Asn) c.320C>A (p.Thr107Asn) | |
8 | g.11757001C= | CA1764072433 | GATA4 | c.1064C= (p.Thr355=) c.1067C= (p.Thr356=) n.509C= c.446C= (p.Thr149=) c.1061C= (p.Thr354=) c.320C= (p.Thr107=) | |
8 | g.11757001C>G | CA4630813 | GATA4 | c.1064C>G (p.Thr355Ser) c.1067C>G (p.Thr356Ser) n.509C>G c.446C>G (p.Thr149Ser) c.1061C>G (p.Thr354Ser) c.320C>G (p.Thr107Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11757001C>T | CA370315348 | GATA4 | c.1064C>T (p.Thr355Ile) c.1067C>T (p.Thr356Ile) n.509C>T c.446C>T (p.Thr149Ile) c.1061C>T (p.Thr354Ile) c.320C>T (p.Thr107Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757002C>A | CA4630815 | GATA4 | c.1065C>A (p.Thr355=) c.1068C>A (p.Thr356=) n.510C>A c.447C>A (p.Thr149=) c.1062C>A (p.Thr354=) c.321C>A (p.Thr107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11757002C= | CA1764072438 | GATA4 | c.1065C= (p.Thr355=) c.1068C= (p.Thr356=) n.510C= c.447C= (p.Thr149=) c.1062C= (p.Thr354=) c.321C= (p.Thr107=) | |
8 | g.11757002C>G | CA459313692 | GATA4 | c.1065C>G (p.Thr355=) c.1068C>G (p.Thr356=) n.510C>G c.447C>G (p.Thr149=) c.1062C>G (p.Thr354=) c.321C>G (p.Thr107=) | |
8 | g.11757002C>T | CA4630814 | GATA4 | c.1065C>T (p.Thr355=) c.1068C>T (p.Thr356=) n.510C>T c.447C>T (p.Thr149=) c.1062C>T (p.Thr354=) c.321C>T (p.Thr107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757003A= | CA1764072443 | GATA4 | c.1066A= (p.Ser356=) c.1069A= (p.Ser357=) n.511A= c.448A= (p.Ser150=) c.1063A= (p.Ser355=) c.322A= (p.Ser108=) | |
8 | g.11757003A>C | CA370315349 | GATA4 | c.1066A>C (p.Ser356Arg) c.1069A>C (p.Ser357Arg) n.511A>C c.448A>C (p.Ser150Arg) c.1063A>C (p.Ser355Arg) c.322A>C (p.Ser108Arg) | |
8 | g.11757003A>G | CA370315350 | GATA4 | c.1066A>G (p.Ser356Gly) c.1069A>G (p.Ser357Gly) n.511A>G c.448A>G (p.Ser150Gly) c.1063A>G (p.Ser355Gly) c.322A>G (p.Ser108Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.11757003A>T | CA370315351 | GATA4 | c.1066A>T (p.Ser356Cys) c.1069A>T (p.Ser357Cys) n.511A>T c.448A>T (p.Ser150Cys) c.1063A>T (p.Ser355Cys) c.322A>T (p.Ser108Cys) | ClinVar dbSNP |
8 | g.11757004G>A | CA370315352 | GATA4 | c.1067G>A (p.Ser356Asn) c.1070G>A (p.Ser357Asn) n.512G>A c.449G>A (p.Ser150Asn) c.1064G>A (p.Ser355Asn) c.323G>A (p.Ser108Asn) | |
8 | g.11757004G>C | CA370315353 | GATA4 | c.1067G>C (p.Ser356Thr) c.1070G>C (p.Ser357Thr) n.512G>C c.449G>C (p.Ser150Thr) c.1064G>C (p.Ser355Thr) c.323G>C (p.Ser108Thr) | |
8 | g.11757004G= | CA1764072444 | GATA4 | c.1067G= (p.Ser356=) c.1070G= (p.Ser357=) n.512G= c.449G= (p.Ser150=) c.1064G= (p.Ser355=) c.323G= (p.Ser108=) | |
8 | g.11757004G>T | CA172120394 | GATA4 | c.1067G>T (p.Ser356Ile) c.1070G>T (p.Ser357Ile) n.512G>T c.449G>T (p.Ser150Ile) c.1064G>T (p.Ser355Ile) c.323G>T (p.Ser108Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757005C>A | CA172120398 | GATA4 | c.1068C>A (p.Ser356Arg) c.1071C>A (p.Ser357Arg) n.513C>A c.450C>A (p.Ser150Arg) c.1065C>A (p.Ser355Arg) c.324C>A (p.Ser108Arg) | dbSNP |
8 | g.11757005C= | CA1764072447 | GATA4 | c.1068C= (p.Ser356=) c.1071C= (p.Ser357=) n.513C= c.450C= (p.Ser150=) c.1065C= (p.Ser355=) c.324C= (p.Ser108=) | |
8 | g.11757005C>G | CA370315354 | GATA4 | c.1068C>G (p.Ser356Arg) c.1071C>G (p.Ser357Arg) n.513C>G c.450C>G (p.Ser150Arg) c.1065C>G (p.Ser355Arg) c.324C>G (p.Ser108Arg) | dbSNP gnomAD v4 |
8 | g.11757005C>T | CA459313693 | GATA4 | c.1068C>T (p.Ser356=) c.1071C>T (p.Ser357=) n.513C>T c.450C>T (p.Ser150=) c.1065C>T (p.Ser355=) c.324C>T (p.Ser108=) | dbSNP |
8 | g.11757006A>C | CA370315356 | GATA4 | c.1069A>C (p.Ser357Arg) c.1072A>C (p.Ser358Arg) n.514A>C c.451A>C (p.Ser151Arg) c.1066A>C (p.Ser356Arg) c.325A>C (p.Ser109Arg) | |
8 | g.11757006A>G | CA370315357 | GATA4 | c.1069A>G (p.Ser357Gly) c.1072A>G (p.Ser358Gly) n.514A>G c.451A>G (p.Ser151Gly) c.1066A>G (p.Ser356Gly) c.325A>G (p.Ser109Gly) | |
8 | g.11757006A>T | CA370315355 | GATA4 | c.1069A>T (p.Ser357Cys) c.1072A>T (p.Ser358Cys) n.514A>T c.451A>T (p.Ser151Cys) c.1066A>T (p.Ser356Cys) c.325A>T (p.Ser109Cys) | |
8 | g.11757007G>A | CA370315359 | GATA4 | c.1070G>A (p.Ser357Asn) c.1073G>A (p.Ser358Asn) n.515G>A c.452G>A (p.Ser151Asn) c.1067G>A (p.Ser356Asn) c.326G>A (p.Ser109Asn) | |
8 | g.11757007G>C | CA370315358 | GATA4 | c.1070G>C (p.Ser357Thr) c.1073G>C (p.Ser358Thr) n.515G>C c.452G>C (p.Ser151Thr) c.1067G>C (p.Ser356Thr) c.326G>C (p.Ser109Thr) | |
8 | g.11757007G= | CA1764072450 | GATA4 | c.1070G= (p.Ser357=) c.1073G= (p.Ser358=) n.515G= c.452G= (p.Ser151=) c.1067G= (p.Ser356=) c.326G= (p.Ser109=) | |
8 | g.11757007G>T | CA370315360 | GATA4 | c.1070G>T (p.Ser357Ile) c.1073G>T (p.Ser358Ile) n.515G>T c.452G>T (p.Ser151Ile) c.1067G>T (p.Ser356Ile) c.326G>T (p.Ser109Ile) | dbSNP |
8 | g.11757008C>A | CA370315361 | GATA4 | c.1071C>A (p.Ser357Arg) c.1074C>A (p.Ser358Arg) n.516C>A c.453C>A (p.Ser151Arg) c.1068C>A (p.Ser356Arg) c.327C>A (p.Ser109Arg) | |
8 | g.11757008C>G | CA370315362 | GATA4 | c.1071C>G (p.Ser357Arg) c.1074C>G (p.Ser358Arg) n.516C>G c.453C>G (p.Ser151Arg) c.1068C>G (p.Ser356Arg) c.327C>G (p.Ser109Arg) | gnomAD v4 |
8 | g.11757008C>T | CA459313694 | GATA4 | c.1071C>T (p.Ser357=) c.1074C>T (p.Ser358=) n.516C>T c.453C>T (p.Ser151=) c.1068C>T (p.Ser356=) c.327C>T (p.Ser109=) | |
8 | g.11757009A= | CA1764072452 | GATA4 | c.1072A= (p.Ser358=) c.1075A= (p.Ser359=) n.517A= c.454A= (p.Ser152=) c.1069A= (p.Ser357=) c.328A= (p.Ser110=) | |
8 | g.11757009A>C | CA370315363 | GATA4 | c.1072A>C (p.Ser358Arg) c.1075A>C (p.Ser359Arg) n.517A>C c.454A>C (p.Ser152Arg) c.1069A>C (p.Ser357Arg) c.328A>C (p.Ser110Arg) | |
8 | g.11757009A>G | CA172120401 | GATA4 | c.1072A>G (p.Ser358Gly) c.1075A>G (p.Ser359Gly) n.517A>G c.454A>G (p.Ser152Gly) c.1069A>G (p.Ser357Gly) c.328A>G (p.Ser110Gly) | dbSNP |
8 | g.11757009A>T | CA370315364 | GATA4 | c.1072A>T (p.Ser358Cys) c.1075A>T (p.Ser359Cys) n.517A>T c.454A>T (p.Ser152Cys) c.1069A>T (p.Ser357Cys) c.328A>T (p.Ser110Cys) | |
8 | g.11757010G>A | CA370315365 | GATA4 | c.1073G>A (p.Ser358Asn) c.1076G>A (p.Ser359Asn) n.518G>A c.455G>A (p.Ser152Asn) c.1070G>A (p.Ser357Asn) c.329G>A (p.Ser110Asn) | |
8 | g.11757010G>C | CA4630816 | GATA4 | c.1073G>C (p.Ser358Thr) c.1076G>C (p.Ser359Thr) n.518G>C c.455G>C (p.Ser152Thr) c.1070G>C (p.Ser357Thr) c.329G>C (p.Ser110Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757010G= | CA1764072454 | GATA4 | c.1073G= (p.Ser358=) c.1076G= (p.Ser359=) n.518G= c.455G= (p.Ser152=) c.1070G= (p.Ser357=) c.329G= (p.Ser110=) | |
8 | g.11757010G>T | CA370315366 | GATA4 | c.1073G>T (p.Ser358Ile) c.1076G>T (p.Ser359Ile) n.518G>T c.455G>T (p.Ser152Ile) c.1070G>T (p.Ser357Ile) c.329G>T (p.Ser110Ile) | |
8 | g.11757011del | CA2695208950 | GATA4 | c.1074del (p.Ser358ArgfsTer?) c.1077del (p.Ser359ArgfsTer?) n.519del c.456del (p.Ser152ArgfsTer?) c.1071del (p.Ser357ArgfsTer?) c.330del (p.Ser110ArgfsTer?) | |
8 | g.11757011C>A | CA370315367 | GATA4 | c.1074C>A (p.Ser358Arg) c.1077C>A (p.Ser359Arg) n.519C>A c.456C>A (p.Ser152Arg) c.1071C>A (p.Ser357Arg) c.330C>A (p.Ser110Arg) | |
8 | g.11757011C= | CA1764072459 | GATA4 | c.1074C= (p.Ser358=) c.1077C= (p.Ser359=) n.519C= c.456C= (p.Ser152=) c.1071C= (p.Ser357=) c.330C= (p.Ser110=) | |
8 | g.11757011C>G | CA370315368 | GATA4 | c.1074C>G (p.Ser358Arg) c.1077C>G (p.Ser359Arg) n.519C>G c.456C>G (p.Ser152Arg) c.1071C>G (p.Ser357Arg) c.330C>G (p.Ser110Arg) | ClinVar dbSNP |
8 | g.11757011C>T | CA4630817 | GATA4 | c.1074C>T (p.Ser358=) c.1077C>T (p.Ser359=) n.519C>T c.456C>T (p.Ser152=) c.1071C>T (p.Ser357=) c.330C>T (p.Ser110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757011_11757012delinsCG | CA1764072461 | GATA4 | c.1074_1075delinsCG (p.Ser358=) c.1077_1078delinsCG (p.Ser359=) n.519_520delinsCG c.456_457delinsCG (p.Ser152=) c.1071_1072delinsCG (p.Ser357=) c.330_331delinsCG (p.Ser110=) |