| 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.1610780del | CA2695205861 | FOXC1 | c.335del (p.Phe112SerfsTer?) | |
| 6 | g.1610780T>A | CA3614742 | FOXC1 | c.335T>A (p.Phe112Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610780T>C | CA119636 | FOXC1 | c.335T>C (p.Phe112Ser) | ClinVar dbSNP |
| 6 | g.1610780T>G | CA362558587 | FOXC1 | c.335T>G (p.Phe112Cys) | |
| 6 | g.1610780T= | CA1605822499 | FOXC1 | c.335T= (p.Phe112=) | |
| 6 | g.1610781C>A | CA362558588 | FOXC1 | c.336C>A (p.Phe112Leu) | |
| 6 | g.1610781C= | CA1605822500 | FOXC1 | c.336C= (p.Phe112=) | |
| 6 | g.1610781C>G | CA362558589 | FOXC1 | c.336C>G (p.Phe112Leu) | |
| 6 | g.1610781C>T | CA448393412 | FOXC1 | c.336C>T (p.Phe112=) | dbSNP gnomAD v4 |
| 6 | g.1610782_1610784dup | CA2573052641 | FOXC1 | c.337_339dup (p.Pro113_Phe114insPro) | ClinVar dbSNP |
| 6 | g.1610782C>A | CA362558590 | FOXC1 | c.337C>A (p.Pro113Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610782C= | CA1605822501 | FOXC1 | c.337C= (p.Pro113=) | |
| 6 | g.1610782C>G | CA362558591 | FOXC1 | c.337C>G (p.Pro113Ala) | gnomAD v4 |
| 6 | g.1610782C>T | CA362558592 | FOXC1 | c.337C>T (p.Pro113Ser) | gnomAD v4 |
| 6 | g.1610783C>A | CA362558593 | FOXC1 | c.338C>A (p.Pro113His) | |
| 6 | g.1610783C= | CA1605822502 | FOXC1 | c.338C= (p.Pro113=) | |
| 6 | g.1610783C>G | CA362558594 | FOXC1 | c.338C>G (p.Pro113Arg) | gnomAD v4 |
| 6 | g.1610783C>T | CA362558595 | FOXC1 | c.338C>T (p.Pro113Leu) | dbSNP gnomAD v4 |
| 6 | g.1610784C>A | CA448393416 | FOXC1 | c.339C>A (p.Pro113=) | gnomAD v4 |
| 6 | g.1610784C= | CA1605822503 | FOXC1 | c.339C= (p.Pro113=) | |
| 6 | g.1610784C>G | CA448393417 | FOXC1 | c.339C>G (p.Pro113=) | gnomAD v4 |
| 6 | g.1610784C>T | CA3614743 | FOXC1 | c.339C>T (p.Pro113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.1610785T>A | CA362558598 | FOXC1 | c.340T>A (p.Phe114Ile) | |
| 6 | g.1610785T>C | CA362558596 | FOXC1 | c.340T>C (p.Phe114Leu) | |
| 6 | g.1610785T>G | CA362558597 | FOXC1 | c.340T>G (p.Phe114Val) | |
| 6 | g.1610786T>A | CA362558599 | FOXC1 | c.341T>A (p.Phe114Tyr) | |
| 6 | g.1610786T>C | CA362558600 | FOXC1 | c.341T>C (p.Phe114Ser) | |
| 6 | g.1610786T>G | CA362558601 | FOXC1 | c.341T>G (p.Phe114Cys) | |
| 6 | g.1610787C>A | CA362558602 | FOXC1 | c.342C>A (p.Phe114Leu) | |
| 6 | g.1610787C= | CA1605822504 | FOXC1 | c.342C= (p.Phe114=) | |
| 6 | g.1610787C>G | CA362558603 | FOXC1 | c.342C>G (p.Phe114Leu) | |
| 6 | g.1610787C>T | CA448393419 | FOXC1 | c.342C>T (p.Phe114=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.1610788T>A | CA362558604 | FOXC1 | c.343T>A (p.Tyr115Asn) | |
| 6 | g.1610788T>C | CA362558605 | FOXC1 | c.343T>C (p.Tyr115His) | |
| 6 | g.1610788T>G | CA362558606 | FOXC1 | c.343T>G (p.Tyr115Asp) | |
| 6 | g.1610789A= | CA1605822505 | FOXC1 | c.344A= (p.Tyr115=) | |
| 6 | g.1610789A>C | CA362558607 | FOXC1 | c.344A>C (p.Tyr115Ser) | |
| 6 | g.1610789A>G | CA362558608 | FOXC1 | c.344A>G (p.Tyr115Cys) | ClinVar dbSNP |
| 6 | g.1610789A>T | CA362558609 | FOXC1 | c.344A>T (p.Tyr115Phe) | |
| 6 | g.1610790C>A | CA362558611 | FOXC1 | c.345C>A (p.Tyr115Ter) | |
| 6 | g.1610790C>G | CA362558610 | FOXC1 | c.345C>G (p.Tyr115Ter) | |
| 6 | g.1610790C>T | CA448393420 | FOXC1 | c.345C>T (p.Tyr115=) | gnomAD v4 |
| 6 | g.1610791C>A | CA448393421 | FOXC1 | c.346C>A (p.Arg116=) | dbSNP |
| 6 | g.1610791C= | CA1605822507 | FOXC1 | c.346C= (p.Arg116=) | |
| 6 | g.1610791C>G | CA362558612 | FOXC1 | c.346C>G (p.Arg116Gly) | |
| 6 | g.1610791C>T | CA362558613 | FOXC1 | c.346C>T (p.Arg116Trp) | dbSNP |
| 6 | g.1610791_1610792delinsCG | CA1605822506 | FOXC1 | c.346_347delinsCG (p.Arg116=) | |
| 6 | g.1610792G>A | CA133389819 | FOXC1 | c.347G>A (p.Arg116Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610792G>C | CA362558614 | FOXC1 | c.347G>C (p.Arg116Pro) |