| 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.1610733C>A | CA362558481 | FOXC1 | c.288C>A (p.Asp96Glu) | |
| 6 | g.1610733C= | CA1605822473 | FOXC1 | c.288C= (p.Asp96=) | |
| 6 | g.1610733C>G | CA362558482 | FOXC1 | c.288C>G (p.Asp96Glu) | |
| 6 | g.1610733C>T | CA448393301 | FOXC1 | c.288C>T (p.Asp96=) | |
| 6 | g.1610733_1610736delinsCAAG | CA1605822474 | FOXC1 | c.288_291delinsCAAG (p.Asp96=) | |
| 6 | g.1610734A= | CA1605822475 | FOXC1 | c.289A= (p.Lys97=) | |
| 6 | g.1610734A>C | CA362558483 | FOXC1 | c.289A>C (p.Lys97Gln) | |
| 6 | g.1610734A>G | CA362558484 | FOXC1 | c.289A>G (p.Lys97Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610734A>T | CA362558485 | FOXC1 | c.289A>T (p.Lys97Ter) | |
| 6 | g.1610735dup | CA10606400 | FOXC1 | c.290dup (p.Lys98GlufsTer?) | ClinVar dbSNP |
| 6 | g.1610738_1610740del | CA915944134 | FOXC1 | c.293_295del (p.Lys98del) | ClinVar dbSNP |
| 6 | g.1610735A>C | CA362558486 | FOXC1 | c.290A>C (p.Lys97Thr) | |
| 6 | g.1610735A>G | CA362558488 | FOXC1 | c.290A>G (p.Lys97Arg) | gnomAD v4 |
| 6 | g.1610735A>T | CA362558487 | FOXC1 | c.290A>T (p.Lys97Met) | |
| 6 | g.1610736G>A | CA448393306 | FOXC1 | c.291G>A (p.Lys97=) | gnomAD v4 |
| 6 | g.1610736G>C | CA362558489 | FOXC1 | c.291G>C (p.Lys97Asn) | |
| 6 | g.1610736G>T | CA362558490 | FOXC1 | c.291G>T (p.Lys97Asn) | |
| 6 | g.1610737A>C | CA362558491 | FOXC1 | c.292A>C (p.Lys98Gln) | gnomAD v4 |
| 6 | g.1610737A>G | CA362558492 | FOXC1 | c.292A>G (p.Lys98Glu) | |
| 6 | g.1610737A>T | CA362558493 | FOXC1 | c.292A>T (p.Lys98Ter) | |
| 6 | g.1610738A>C | CA362558494 | FOXC1 | c.293A>C (p.Lys98Thr) | |
| 6 | g.1610738A>G | CA362558495 | FOXC1 | c.293A>G (p.Lys98Arg) | gnomAD v4 |
| 6 | g.1610738A>T | CA362558496 | FOXC1 | c.293A>T (p.Lys98Met) | |
| 6 | g.1610739G>A | CA448393312 | FOXC1 | c.294G>A (p.Lys98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610739G>C | CA362558497 | FOXC1 | c.294G>C (p.Lys98Asn) | |
| 6 | g.1610739G= | CA1605822476 | FOXC1 | c.294G= (p.Lys98=) | |
| 6 | g.1610739G>T | CA362558498 | FOXC1 | c.294G>T (p.Lys98Asn) | |
| 6 | g.1610740A= | CA1605822477 | FOXC1 | c.295A= (p.Ile99=) | |
| 6 | g.1610740A>C | CA362558500 | FOXC1 | c.295A>C (p.Ile99Leu) | dbSNP |
| 6 | g.1610740A>G | CA362558501 | FOXC1 | c.295A>G (p.Ile99Val) | |
| 6 | g.1610740A>T | CA362558499 | FOXC1 | c.295A>T (p.Ile99Phe) | |
| 6 | g.1610741T>A | CA362558502 | FOXC1 | c.296T>A (p.Ile99Asn) | |
| 6 | g.1610741T>C | CA362558503 | FOXC1 | c.296T>C (p.Ile99Thr) | |
| 6 | g.1610741T>G | CA362558504 | FOXC1 | c.296T>G (p.Ile99Ser) | |
| 6 | g.1610742C>A | CA448393316 | FOXC1 | c.297C>A (p.Ile99=) | dbSNP |
| 6 | g.1610742C= | CA1605822478 | FOXC1 | c.297C= (p.Ile99=) | |
| 6 | g.1610742C>G | CA3614730 | FOXC1 | c.297C>G (p.Ile99Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610742C>T | CA448393319 | FOXC1 | c.297C>T (p.Ile99=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1610742_1610773delinsCACCCTGAACGGCATCTACCAGTTCATCATGG | CA1605822479 | FOXC1 | c.297_328delinsCACCCTGAACGGCATCTACCAGTTCATCATGG (p.Ile99=) | |
| 6 | g.1610743A= | CA1605822480 | FOXC1 | c.298A= (p.Thr100=) | |
| 6 | g.1610743A>C | CA362558505 | FOXC1 | c.298A>C (p.Thr100Pro) | |
| 6 | g.1610743A>G | CA362558506 | FOXC1 | c.298A>G (p.Thr100Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610743A>T | CA362558507 | FOXC1 | c.298A>T (p.Thr100Ser) | |
| 6 | g.1610746_1610776del | CA916082800 | FOXC1 | c.301_331del (p.Leu101AlafsTer?) | ClinVar dbSNP |
| 6 | g.1610744C>A | CA362558508 | FOXC1 | c.299C>A (p.Thr100Asn) | |
| 6 | g.1610744C= | CA1605822481 | FOXC1 | c.299C= (p.Thr100=) | |
| 6 | g.1610744C>G | CA362558509 | FOXC1 | c.299C>G (p.Thr100Ser) | |
| 6 | g.1610744C>T | CA3614731 | FOXC1 | c.299C>T (p.Thr100Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.1610745C>A | CA448393338 | FOXC1 | c.300C>A (p.Thr100=) | gnomAD v4 |