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.1610456G>A | CA362557885 | FOXC1 | c.11G>A (p.Arg4His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610456G>C | CA362557887 | FOXC1 | c.11G>C (p.Arg4Pro) | |
6 | g.1610456G= | CA1605822305 | FOXC1 | c.11G= (p.Arg4=) | |
6 | g.1610456G>T | CA362557886 | FOXC1 | c.11G>T (p.Arg4Leu) | gnomAD v4 |
6 | g.1610457del | CA2695205850 | FOXC1 | c.12del (p.Tyr5ThrfsTer?) | |
6 | g.1610457C>A | CA448393200 | FOXC1 | c.12C>A (p.Arg4=) | gnomAD v4 |
6 | g.1610457C>G | CA448393201 | FOXC1 | c.12C>G (p.Arg4=) | |
6 | g.1610457C>T | CA448393202 | FOXC1 | c.12C>T (p.Arg4=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610458T>A | CA362557888 | FOXC1 | c.13T>A (p.Tyr5Asn) | |
6 | g.1610458T>C | CA362557889 | FOXC1 | c.13T>C (p.Tyr5His) | gnomAD v4 |
6 | g.1610458T>G | CA362557890 | FOXC1 | c.13T>G (p.Tyr5Asp) | |
6 | g.1610459A>C | CA362557891 | FOXC1 | c.14A>C (p.Tyr5Ser) | |
6 | g.1610459A>G | CA362557892 | FOXC1 | c.14A>G (p.Tyr5Cys) | gnomAD v4 |
6 | g.1610459A>T | CA362557893 | FOXC1 | c.14A>T (p.Tyr5Phe) | |
6 | g.1610460C>A | CA362557894 | FOXC1 | c.15C>A (p.Tyr5Ter) | |
6 | g.1610460C>G | CA362557895 | FOXC1 | c.15C>G (p.Tyr5Ter) | |
6 | g.1610460C>T | CA448393203 | FOXC1 | c.15C>T (p.Tyr5=) | gnomAD v4 |
6 | g.1610461T>A | CA362557896 | FOXC1 | c.16T>A (p.Ser6Thr) | gnomAD v4 |
6 | g.1610461T>C | CA362557897 | FOXC1 | c.16T>C (p.Ser6Pro) | gnomAD v4 |
6 | g.1610461T>G | CA362557898 | FOXC1 | c.16T>G (p.Ser6Ala) | |
6 | g.1610462C>A | CA362557901 | FOXC1 | c.17C>A (p.Ser6Tyr) | gnomAD v4 |
6 | g.1610462C>G | CA362557899 | FOXC1 | c.17C>G (p.Ser6Cys) | gnomAD v4 |
6 | g.1610462C>T | CA362557900 | FOXC1 | c.17C>T (p.Ser6Phe) | gnomAD v4 |
6 | g.1610463C>A | CA448393205 | FOXC1 | c.18C>A (p.Ser6=) | dbSNP gnomAD v4 |
6 | g.1610463C= | CA1605822306 | FOXC1 | c.18C= (p.Ser6=) | |
6 | g.1610463C>G | CA448393206 | FOXC1 | c.18C>G (p.Ser6=) | ClinVar dbSNP gnomAD v4 |
6 | g.1610463C>T | CA448393207 | FOXC1 | c.18C>T (p.Ser6=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610464G>A | CA362557902 | FOXC1 | c.19G>A (p.Val7Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610464G>C | CA362557903 | FOXC1 | c.19G>C (p.Val7Leu) | gnomAD v4 |
6 | g.1610464G= | CA1605822307 | FOXC1 | c.19G= (p.Val7=) | |
6 | g.1610464G>T | CA362557904 | FOXC1 | c.19G>T (p.Val7Leu) | gnomAD v4 |
6 | g.1610465T>A | CA362557905 | FOXC1 | c.20T>A (p.Val7Glu) | |
6 | g.1610465T>C | CA362557906 | FOXC1 | c.20T>C (p.Val7Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610465T>G | CA362557907 | FOXC1 | c.20T>G (p.Val7Gly) | |
6 | g.1610465T= | CA1605822308 | FOXC1 | c.20T= (p.Val7=) | |
6 | g.1610465dup | CA915944133 | FOXC1 | c.20dup (p.Ser8ValfsTer?) | ClinVar dbSNP |
6 | g.1610466G>A | CA448393210 | FOXC1 | c.21G>A (p.Val7=) | gnomAD v4 |
6 | g.1610466G>C | CA448393211 | FOXC1 | c.21G>C (p.Val7=) | |
6 | g.1610466G= | CA1605822309 | FOXC1 | c.21G= (p.Val7=) | |
6 | g.1610466G>T | CA3614692 | FOXC1 | c.21G>T (p.Val7=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610467T>A | CA362557908 | FOXC1 | c.22T>A (p.Ser8Thr) | |
6 | g.1610467T>C | CA362557909 | FOXC1 | c.22T>C (p.Ser8Pro) | gnomAD v4 |
6 | g.1610467T>G | CA362557910 | FOXC1 | c.22T>G (p.Ser8Ala) | |
6 | g.1610468C>A | CA362557911 | FOXC1 | c.23C>A (p.Ser8Tyr) | gnomAD v4 |
6 | g.1610468C>G | CA362557912 | FOXC1 | c.23C>G (p.Ser8Cys) | gnomAD v4 |
6 | g.1610468C>T | CA362557913 | FOXC1 | c.23C>T (p.Ser8Phe) | gnomAD v4 |
6 | g.1610469C>A | CA448393213 | FOXC1 | c.24C>A (p.Ser8=) | gnomAD v4 |
6 | g.1610469C= | CA1605822310 | FOXC1 | c.24C= (p.Ser8=) | |
6 | g.1610469C>G | CA448393214 | FOXC1 | c.24C>G (p.Ser8=) |