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.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=) | |
6 | g.1610469C>T | CA448393215 | FOXC1 | c.24C>T (p.Ser8=) | ClinVar dbSNP gnomAD v4 |
6 | g.1610470A= | CA1605822311 | FOXC1 | c.25A= (p.Ser9=) | |
6 | g.1610470A>C | CA362557916 | FOXC1 | c.25A>C (p.Ser9Arg) | gnomAD v4 |
6 | g.1610470A>G | CA362557915 | FOXC1 | c.25A>G (p.Ser9Gly) | gnomAD v4 |
6 | g.1610470A>T | CA362557914 | FOXC1 | c.25A>T (p.Ser9Cys) | |
6 | g.1610471G>A | CA362557917 | FOXC1 | c.26G>A (p.Ser9Asn) | gnomAD v4 |
6 | g.1610471G>C | CA362557918 | FOXC1 | c.26G>C (p.Ser9Thr) | dbSNP gnomAD v2 |
6 | g.1610471G= | CA1605822312 | FOXC1 | c.26G= (p.Ser9=) | |
6 | g.1610471G>T | CA362557919 | FOXC1 | c.26G>T (p.Ser9Ile) | gnomAD v4 |
6 | g.1610471_1610473dup | CA565356144 | FOXC1 | c.26_28dup (p.Ser9_Pro10insArg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610472C>A | CA362557920 | FOXC1 | c.27C>A (p.Ser9Arg) | gnomAD v4 |
6 | g.1610472C= | CA1605822313 | FOXC1 | c.27C= (p.Ser9=) | |
6 | g.1610472C>G | CA362557921 | FOXC1 | c.27C>G (p.Ser9Arg) | |
6 | g.1610472C>T | CA448393219 | FOXC1 | c.27C>T (p.Ser9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610475del | CA2677060445 | FOXC1 | c.30del (p.Asn11ThrfsTer?) | gnomAD v4 |
6 | g.1610473C>A | CA362557922 | FOXC1 | c.28C>A (p.Pro10Thr) | gnomAD v4 |
6 | g.1610473C>G | CA362557923 | FOXC1 | c.28C>G (p.Pro10Ala) |