Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.1610446_1613897del | CA891843163 | FOXC1 | c.1_*1790del (n.[c.1_*1790del;Met1=]) c.1_3452del (n.[c.1_3452del;Met1=]) | ClinVar |
6 | g.1610486del | CA2677060447 | FOXC1 | c.41del (p.Gly14GlufsTer?) | gnomAD v4 |
6 | g.1610486G>A | CA362557950 | FOXC1 | c.41G>A (p.Gly14Glu) | ClinVar gnomAD v4 |
6 | g.1610486G>C | CA362557951 | FOXC1 | c.41G>C (p.Gly14Ala) | gnomAD v4 |
6 | g.1610486G>T | CA362557952 | FOXC1 | c.41G>T (p.Gly14Val) | gnomAD v4 |
6 | g.1610487A>C | CA448393233 | FOXC1 | c.42A>C (p.Gly14=) | |
6 | g.1610487A>G | CA448393235 | FOXC1 | c.42A>G (p.Gly14=) | gnomAD v4 |
6 | g.1610487A>T | CA448393234 | FOXC1 | c.42A>T (p.Gly14=) | |
6 | g.1610488G>A | CA362557953 | FOXC1 | c.43G>A (p.Val15Met) | gnomAD v4 |
6 | g.1610488G>C | CA362557954 | FOXC1 | c.43G>C (p.Val15Leu) | dbSNP gnomAD v2 |
6 | g.1610488G= | CA1605822321 | FOXC1 | c.43G= (p.Val15=) | |
6 | g.1610488G>T | CA362557955 | FOXC1 | c.43G>T (p.Val15Leu) | dbSNP gnomAD v4 |
6 | g.1610489T>A | CA362557956 | FOXC1 | c.44T>A (p.Val15Glu) | |
6 | g.1610489T>C | CA362557957 | FOXC1 | c.44T>C (p.Val15Ala) | gnomAD v4 |
6 | g.1610489T>G | CA362557958 | FOXC1 | c.44T>G (p.Val15Gly) | |
6 | g.1610490G>A | CA448393237 | FOXC1 | c.45G>A (p.Val15=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610490G>C | CA448393238 | FOXC1 | c.45G>C (p.Val15=) | |
6 | g.1610490G= | CA1605822322 | FOXC1 | c.45G= (p.Val15=) | |
6 | g.1610490G>T | CA133389061 | FOXC1 | c.45G>T (p.Val15=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610491G>A | CA362557959 | FOXC1 | c.46G>A (p.Val16Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610491G>C | CA362557960 | FOXC1 | c.46G>C (p.Val16Leu) | |
6 | g.1610491G= | CA1605822323 | FOXC1 | c.46G= (p.Val16=) | |
6 | g.1610491G>T | CA362557961 | FOXC1 | c.46G>T (p.Val16Leu) | gnomAD v4 |
6 | g.1610492T>A | CA362557962 | FOXC1 | c.47T>A (p.Val16Glu) | |
6 | g.1610492T>C | CA362557964 | FOXC1 | c.47T>C (p.Val16Ala) | gnomAD v4 |
6 | g.1610492T>G | CA362557963 | FOXC1 | c.47T>G (p.Val16Gly) | |
6 | g.1610493G>A | CA448393239 | FOXC1 | c.48G>A (p.Val16=) | dbSNP gnomAD v4 |
6 | g.1610493G>C | CA448393243 | FOXC1 | c.48G>C (p.Val16=) | |
6 | g.1610493G= | CA1605822324 | FOXC1 | c.48G= (p.Val16=) | |
6 | g.1610493G>T | CA448393241 | FOXC1 | c.48G>T (p.Val16=) | dbSNP gnomAD v4 |
6 | g.1610494C>A | CA362557965 | FOXC1 | c.49C>A (p.Pro17Thr) | gnomAD v4 |
6 | g.1610494C= | CA1605822325 | FOXC1 | c.49C= (p.Pro17=) | |
6 | g.1610494C>G | CA362557967 | FOXC1 | c.49C>G (p.Pro17Ala) | gnomAD v4 |
6 | g.1610494C>T | CA362557966 | FOXC1 | c.49C>T (p.Pro17Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610496del | CA2499218182 | FOXC1 | c.51del (p.Tyr18ThrfsTer27) | ClinVar dbSNP |
6 | g.1610495C>A | CA362557968 | FOXC1 | c.50C>A (p.Pro17His) | gnomAD v4 |
6 | g.1610495C>G | CA362557970 | FOXC1 | c.50C>G (p.Pro17Arg) | |
6 | g.1610495C>T | CA362557969 | FOXC1 | c.50C>T (p.Pro17Leu) | |
6 | g.1610496C>A | CA448393248 | FOXC1 | c.51C>A (p.Pro17=) | gnomAD v4 |
6 | g.1610496C= | CA1605822326 | FOXC1 | c.51C= (p.Pro17=) | |
6 | g.1610496C>G | CA448393249 | FOXC1 | c.51C>G (p.Pro17=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610496C>T | CA448393250 | FOXC1 | c.51C>T (p.Pro17=) | gnomAD v4 |
6 | g.1610497T>A | CA362557971 | FOXC1 | c.52T>A (p.Tyr18Asn) | |
6 | g.1610497T>C | CA362557972 | FOXC1 | c.52T>C (p.Tyr18His) | gnomAD v4 |
6 | g.1610497T>G | CA362557973 | FOXC1 | c.52T>G (p.Tyr18Asp) | gnomAD v4 |
6 | g.1610498A>C | CA362557974 | FOXC1 | c.53A>C (p.Tyr18Ser) | |
6 | g.1610498A>G | CA362557975 | FOXC1 | c.53A>G (p.Tyr18Cys) | gnomAD v4 |
6 | g.1610498A>T | CA362557976 | FOXC1 | c.53A>T (p.Tyr18Phe) | gnomAD v4 |
6 | g.1610499C>A | CA362557977 | FOXC1 | c.54C>A (p.Tyr18Ter) | gnomAD v4 |
6 | g.1610499C>G | CA362557978 | FOXC1 | c.54C>G (p.Tyr18Ter) |