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.1610520C>A | CA362558025 | FOXC1 | c.75C>A (p.Tyr25Ter) | gnomAD v4 |
6 | g.1610520C>G | CA362558026 | FOXC1 | c.75C>G (p.Tyr25Ter) | |
6 | g.1610520C>T | CA448393283 | FOXC1 | c.75C>T (p.Tyr25=) | |
6 | g.1610521T>A | CA362558027 | FOXC1 | c.76T>A (p.Tyr26Asn) | |
6 | g.1610521T>C | CA362558028 | FOXC1 | c.76T>C (p.Tyr26His) | dbSNP |
6 | g.1610521T>G | CA362558029 | FOXC1 | c.76T>G (p.Tyr26Asp) | |
6 | g.1610521T= | CA1605822341 | FOXC1 | c.76T= (p.Tyr26=) | |
6 | g.1610522A>C | CA362558030 | FOXC1 | c.77A>C (p.Tyr26Ser) | |
6 | g.1610522A>G | CA362558031 | FOXC1 | c.77A>G (p.Tyr26Cys) | gnomAD v4 |
6 | g.1610522A>T | CA362558032 | FOXC1 | c.77A>T (p.Tyr26Phe) | |
6 | g.1610523C>A | CA362558033 | FOXC1 | c.78C>A (p.Tyr26Ter) | gnomAD v4 |
6 | g.1610523C= | CA1605822342 | FOXC1 | c.78C= (p.Tyr26=) | |
6 | g.1610523C>G | CA362558034 | FOXC1 | c.78C>G (p.Tyr26Ter) | |
6 | g.1610523C>T | CA238722 | FOXC1 | c.78C>T (p.Tyr26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610526_1610545del | CA2499218183 | FOXC1 | c.81_100del (p.Ala28GlyfsTer?) | ClinVar dbSNP |
6 | g.1610524C>A | CA362558035 | FOXC1 | c.79C>A (p.Arg27Ser) | gnomAD v4 |
6 | g.1610524C>G | CA362558036 | FOXC1 | c.79C>G (p.Arg27Gly) | |
6 | g.1610524C>T | CA362558037 | FOXC1 | c.79C>T (p.Arg27Cys) | gnomAD v4 |
6 | g.1610525G>A | CA362558040 | FOXC1 | c.80G>A (p.Arg27His) | gnomAD v4 |
6 | g.1610525G>C | CA362558038 | FOXC1 | c.80G>C (p.Arg27Pro) | |
6 | g.1610525G>T | CA362558039 | FOXC1 | c.80G>T (p.Arg27Leu) | |
6 | g.1610525_1610534delinsGCGCGGCGGC | CA1605822343 | FOXC1 | c.80_89delinsGCGCGGCGGC (p.Arg27=) | |
6 | g.1610526C>A | CA448393288 | FOXC1 | c.81C>A (p.Arg27=) | gnomAD v4 |
6 | g.1610526C>G | CA448393290 | FOXC1 | c.81C>G (p.Arg27=) | gnomAD v4 |
6 | g.1610526C>T | CA448393292 | FOXC1 | c.81C>T (p.Arg27=) | |
6 | g.1610537_1610545dup | CA1605822344 | FOXC1 | c.92_100dup (p.Ala33_Gly34insAlaAlaAla) | dbSNP gnomAD v4 |
6 | g.1610537_1610545del | CA3614694 | FOXC1 | c.92_100del (p.Ala31_Ala33del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610527G>A | CA362558041 | FOXC1 | c.82G>A (p.Ala28Thr) | gnomAD v4 |
6 | g.1610527G>C | CA362558042 | FOXC1 | c.82G>C (p.Ala28Pro) | dbSNP |
6 | g.1610527G= | CA1605822345 | FOXC1 | c.82G= (p.Ala28=) | |
6 | g.1610527G>T | CA362558043 | FOXC1 | c.82G>T (p.Ala28Ser) | |
6 | g.1610528C>A | CA362558044 | FOXC1 | c.83C>A (p.Ala28Glu) | gnomAD v4 |
6 | g.1610528C>G | CA362558045 | FOXC1 | c.83C>G (p.Ala28Gly) | |
6 | g.1610528C>T | CA362558046 | FOXC1 | c.83C>T (p.Ala28Val) | gnomAD v4 |
6 | g.1610529G>A | CA448393296 | FOXC1 | c.84G>A (p.Ala28=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610529G>C | CA448393297 | FOXC1 | c.84G>C (p.Ala28=) | |
6 | g.1610529G= | CA1605822346 | FOXC1 | c.84G= (p.Ala28=) | |
6 | g.1610529G>T | CA448393298 | FOXC1 | c.84G>T (p.Ala28=) | gnomAD v4 |
6 | g.1610530G>A | CA362558047 | FOXC1 | c.85G>A (p.Ala29Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610530G>C | CA362558048 | FOXC1 | c.85G>C (p.Ala29Pro) | |
6 | g.1610530G= | CA1605822347 | FOXC1 | c.85G= (p.Ala29=) | |
6 | g.1610530G>T | CA362558049 | FOXC1 | c.85G>T (p.Ala29Ser) | |
6 | g.1610531C>A | CA362558051 | FOXC1 | c.86C>A (p.Ala29Glu) | gnomAD v4 |
6 | g.1610531C= | CA1605822348 | FOXC1 | c.86C= (p.Ala29=) | |
6 | g.1610531C>G | CA362558052 | FOXC1 | c.86C>G (p.Ala29Gly) | |
6 | g.1610531C>T | CA362558050 | FOXC1 | c.86C>T (p.Ala29Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610532G>A | CA448393303 | FOXC1 | c.87G>A (p.Ala29=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610532G>C | CA448393304 | FOXC1 | c.87G>C (p.Ala29=) | |
6 | g.1610532G= | CA1605822349 | FOXC1 | c.87G= (p.Ala29=) |