Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114672119C>A | CA6809827 | TBX3 | c.1894G>T (p.Gly632Cys) c.1954G>T (p.Gly652Cys) c.1891G>T (p.Gly631Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.114672119C= | CA2064762104 | TBX3 | c.1894G= (p.Gly632=) c.1954G= (p.Gly652=) c.1891G= (p.Gly631=) | |
12 | g.114672119C>G | CA386867968 | TBX3 | c.1894G>C (p.Gly632Arg) c.1954G>C (p.Gly652Arg) c.1891G>C (p.Gly631Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672119C>T | CA386867967 | TBX3 | c.1894G>A (p.Gly632Ser) c.1954G>A (p.Gly652Ser) c.1891G>A (p.Gly631Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.114672120G>A | CA482135700 | TBX3 | c.1893C>T (p.Asp631=) c.1953C>T (p.Asp651=) c.1890C>T (p.Asp630=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672120G>C | CA6809828 | TBX3 | c.1893C>G (p.Asp631Glu) c.1953C>G (p.Asp651Glu) c.1890C>G (p.Asp630Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672120G= | CA2064762107 | TBX3 | c.1893C= (p.Asp631=) c.1953C= (p.Asp651=) c.1890C= (p.Asp630=) | |
12 | g.114672120G>T | CA386867969 | TBX3 | c.1893C>A (p.Asp631Glu) c.1953C>A (p.Asp651Glu) c.1890C>A (p.Asp630Glu) | gnomAD v4 |
12 | g.114672121T>A | CA386867970 | TBX3 | c.1892A>T (p.Asp631Val) c.1952A>T (p.Asp651Val) c.1889A>T (p.Asp630Val) | dbSNP |
12 | g.114672121T>C | CA386867971 | TBX3 | c.1892A>G (p.Asp631Gly) c.1952A>G (p.Asp651Gly) c.1889A>G (p.Asp630Gly) | gnomAD v4 |
12 | g.114672121T>G | CA386867972 | TBX3 | c.1892A>C (p.Asp631Ala) c.1952A>C (p.Asp651Ala) c.1889A>C (p.Asp630Ala) | |
12 | g.114672121T= | CA2064762112 | TBX3 | c.1892A= (p.Asp631=) c.1952A= (p.Asp651=) c.1889A= (p.Asp630=) | |
12 | g.114672122C>A | CA386867973 | TBX3 | c.1891G>T (p.Asp631Tyr) c.1951G>T (p.Asp651Tyr) c.1888G>T (p.Asp630Tyr) | gnomAD v4 |
12 | g.114672122C= | CA2064762115 | TBX3 | c.1891G= (p.Asp631=) c.1951G= (p.Asp651=) c.1888G= (p.Asp630=) | |
12 | g.114672122C>G | CA386867974 | TBX3 | c.1891G>C (p.Asp631His) c.1951G>C (p.Asp651His) c.1888G>C (p.Asp630His) | dbSNP |
12 | g.114672122C>T | CA386867975 | TBX3 | c.1891G>A (p.Asp631Asn) c.1951G>A (p.Asp651Asn) c.1888G>A (p.Asp630Asn) | gnomAD v4 |
12 | g.114672126_114672131dup | CA952072848 | TBX3 | c.1886_1891dup (p.Pro630_Asp631insValPro) c.1946_1951dup (p.Pro650_Asp651insValPro) c.1883_1888dup (p.Pro629_Asp630insValPro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672123C>A | CA482135703 | TBX3 | c.1890G>T (p.Pro630=) c.1950G>T (p.Pro650=) c.1887G>T (p.Pro629=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672123C= | CA2064762119 | TBX3 | c.1890G= (p.Pro630=) c.1950G= (p.Pro650=) c.1887G= (p.Pro629=) | |
12 | g.114672123C>G | CA482135704 | TBX3 | c.1890G>C (p.Pro630=) c.1950G>C (p.Pro650=) c.1887G>C (p.Pro629=) | dbSNP |
12 | g.114672123C>T | CA6809829 | TBX3 | c.1890G>A (p.Pro630=) c.1950G>A (p.Pro650=) c.1887G>A (p.Pro629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672124G>A | CA386867976 | TBX3 | c.1889C>T (p.Pro630Leu) c.1949C>T (p.Pro650Leu) c.1886C>T (p.Pro629Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.114672124G>C | CA386867977 | TBX3 | c.1889C>G (p.Pro630Arg) c.1949C>G (p.Pro650Arg) c.1886C>G (p.Pro629Arg) | |
12 | g.114672124G= | CA2064762125 | TBX3 | c.1889C= (p.Pro630=) c.1949C= (p.Pro650=) c.1886C= (p.Pro629=) | |
12 | g.114672124G>T | CA386867978 | TBX3 | c.1889C>A (p.Pro630Gln) c.1949C>A (p.Pro650Gln) c.1886C>A (p.Pro629Gln) | gnomAD v4 COSMIC |
12 | g.114672125G>A | CA386867981 | TBX3 | c.1888C>T (p.Pro630Ser) c.1948C>T (p.Pro650Ser) c.1885C>T (p.Pro629Ser) | gnomAD v4 |
12 | g.114672125G>C | CA386867980 | TBX3 | c.1888C>G (p.Pro630Ala) c.1948C>G (p.Pro650Ala) c.1885C>G (p.Pro629Ala) | |
12 | g.114672125G>T | CA386867979 | TBX3 | c.1888C>A (p.Pro630Thr) c.1948C>A (p.Pro650Thr) c.1885C>A (p.Pro629Thr) | |
12 | g.114672126G>A | CA482135706 | TBX3 | c.1887C>T (p.Val629=) c.1947C>T (p.Val649=) c.1884C>T (p.Val628=) | |
12 | g.114672126G>C | CA482135707 | TBX3 | c.1887C>G (p.Val629=) c.1947C>G (p.Val649=) c.1884C>G (p.Val628=) | |
12 | g.114672126G= | CA2064762129 | TBX3 | c.1887C= (p.Val629=) c.1947C= (p.Val649=) c.1884C= (p.Val628=) | |
12 | g.114672126G>T | CA6809830 | TBX3 | c.1887C>A (p.Val629=) c.1947C>A (p.Val649=) c.1884C>A (p.Val628=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672127A>C | CA386867984 | TBX3 | c.1886T>G (p.Val629Gly) c.1946T>G (p.Val649Gly) c.1883T>G (p.Val628Gly) | dbSNP |
12 | g.114672127A>G | CA386867982 | TBX3 | c.1886T>C (p.Val629Ala) c.1946T>C (p.Val649Ala) c.1883T>C (p.Val628Ala) | gnomAD v4 |
12 | g.114672127A>T | CA386867983 | TBX3 | c.1886T>A (p.Val629Asp) c.1946T>A (p.Val649Asp) c.1883T>A (p.Val628Asp) | |
12 | g.114672132_114672137dup | CA2621129660 | TBX3 | c.1881_1886dup (p.Val629_Pro630insProVal) c.1941_1946dup (p.Val649_Pro650insProVal) c.1878_1883dup (p.Val628_Pro629insProVal) | gnomAD v4 |
12 | g.114672128C>A | CA386867985 | TBX3 | c.1885G>T (p.Val629Phe) c.1945G>T (p.Val649Phe) c.1882G>T (p.Val628Phe) | gnomAD v4 |
12 | g.114672128C>G | CA386867986 | TBX3 | c.1885G>C (p.Val629Leu) c.1945G>C (p.Val649Leu) c.1882G>C (p.Val628Leu) | |
12 | g.114672128C>T | CA386867987 | TBX3 | c.1885G>A (p.Val629Ile) c.1945G>A (p.Val649Ile) c.1882G>A (p.Val628Ile) | dbSNP gnomAD v4 |
12 | g.114672129C>A | CA244141674 | TBX3 | c.1884G>T (p.Pro628=) c.1944G>T (p.Pro648=) c.1881G>T (p.Pro627=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672129C= | CA2064762134 | TBX3 | c.1884G= (p.Pro628=) c.1944G= (p.Pro648=) c.1881G= (p.Pro627=) | |
12 | g.114672129C>G | CA482135709 | TBX3 | c.1884G>C (p.Pro628=) c.1944G>C (p.Pro648=) c.1881G>C (p.Pro627=) | |
12 | g.114672129C>T | CA6809831 | TBX3 | c.1884G>A (p.Pro628=) c.1944G>A (p.Pro648=) c.1881G>A (p.Pro627=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672130G>A | CA386867988 | TBX3 | c.1883C>T (p.Pro628Leu) c.1943C>T (p.Pro648Leu) c.1880C>T (p.Pro627Leu) | dbSNP gnomAD v4 |
12 | g.114672130G>C | CA386867989 | TBX3 | c.1883C>G (p.Pro628Arg) c.1943C>G (p.Pro648Arg) c.1880C>G (p.Pro627Arg) | |
12 | g.114672130G>T | CA386867990 | TBX3 | c.1883C>A (p.Pro628Gln) c.1943C>A (p.Pro648Gln) c.1880C>A (p.Pro627Gln) | gnomAD v4 |
12 | g.114672131G>A | CA386867991 | TBX3 | c.1882C>T (p.Pro628Ser) c.1942C>T (p.Pro648Ser) c.1879C>T (p.Pro627Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672131G>C | CA386867992 | TBX3 | c.1882C>G (p.Pro628Ala) c.1942C>G (p.Pro648Ala) c.1879C>G (p.Pro627Ala) | |
12 | g.114672131G= | CA2064762148 | TBX3 | c.1882C= (p.Pro628=) c.1942C= (p.Pro648=) c.1879C= (p.Pro627=) | |
12 | g.114672131G>T | CA386867993 | TBX3 | c.1882C>A (p.Pro628Thr) c.1942C>A (p.Pro648Thr) c.1879C>A (p.Pro627Thr) | gnomAD v4 |