| 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.1610512C>A | CA362558004 | FOXC1 | c.67C>A (p.Gln23Lys) | gnomAD v4 |
| 6 | g.1610512C= | CA1605822336 | FOXC1 | c.67C= (p.Gln23=) | |
| 6 | g.1610512C>G | CA362558005 | FOXC1 | c.67C>G (p.Gln23Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610512C>T | CA119637 | FOXC1 | c.67C>T (p.Gln23Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.1610513A>C | CA362558007 | FOXC1 | c.68A>C (p.Gln23Pro) | |
| 6 | g.1610513A>G | CA362558008 | FOXC1 | c.68A>G (p.Gln23Arg) | |
| 6 | g.1610513A>T | CA362558006 | FOXC1 | c.68A>T (p.Gln23Leu) | |
| 6 | g.1610514G>A | CA448393279 | FOXC1 | c.69G>A (p.Gln23=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1610514G>C | CA362558009 | FOXC1 | c.69G>C (p.Gln23His) | |
| 6 | g.1610514G= | CA1605822337 | FOXC1 | c.69G= (p.Gln23=) | |
| 6 | g.1610514G>T | CA362558010 | FOXC1 | c.69G>T (p.Gln23His) | gnomAD v4 |
| 6 | g.1610515A>C | CA362558011 | FOXC1 | c.70A>C (p.Ser24Arg) | |
| 6 | g.1610515A>G | CA362558012 | FOXC1 | c.70A>G (p.Ser24Gly) | |
| 6 | g.1610515A>T | CA362558013 | FOXC1 | c.70A>T (p.Ser24Cys) | |
| 6 | g.1610516G>A | CA362558016 | FOXC1 | c.71G>A (p.Ser24Asn) | |
| 6 | g.1610516G>C | CA362558014 | FOXC1 | c.71G>C (p.Ser24Thr) | dbSNP gnomAD v4 |
| 6 | g.1610516G= | CA1605822338 | FOXC1 | c.71G= (p.Ser24=) | |
| 6 | g.1610516G>T | CA362558015 | FOXC1 | c.71G>T (p.Ser24Ile) | gnomAD v4 |
| 6 | g.1610517C>A | CA362558017 | FOXC1 | c.72C>A (p.Ser24Arg) | dbSNP gnomAD v4 |
| 6 | g.1610517C= | CA1605822339 | FOXC1 | c.72C= (p.Ser24=) | |
| 6 | g.1610517C>G | CA362558018 | FOXC1 | c.72C>G (p.Ser24Arg) | |
| 6 | g.1610517C>T | CA448393282 | FOXC1 | c.72C>T (p.Ser24=) | gnomAD v4 |
| 6 | g.1610518T>A | CA362558019 | FOXC1 | c.73T>A (p.Tyr25Asn) | |
| 6 | g.1610518T>C | CA362558020 | FOXC1 | c.73T>C (p.Tyr25His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610518T>G | CA362558021 | FOXC1 | c.73T>G (p.Tyr25Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610518T= | CA1605822340 | FOXC1 | c.73T= (p.Tyr25=) | |
| 6 | g.1610519A>C | CA362558024 | FOXC1 | c.74A>C (p.Tyr25Ser) | |
| 6 | g.1610519A>G | CA362558023 | FOXC1 | c.74A>G (p.Tyr25Cys) | gnomAD v4 |
| 6 | g.1610519A>T | CA362558022 | FOXC1 | c.74A>T (p.Tyr25Phe) | |
| 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) |