| 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.1610738_1610740del | CA915944134 | FOXC1 | c.293_295del (p.Lys98del) | ClinVar dbSNP |
| 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 |
| 6 | g.1610745C= | CA1605822482 | FOXC1 | c.300C= (p.Thr100=) | |
| 6 | g.1610745C>G | CA448393340 | FOXC1 | c.300C>G (p.Thr100=) | ClinVar dbSNP |
| 6 | g.1610745C>T | CA448393342 | FOXC1 | c.300C>T (p.Thr100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610746C>A | CA362558510 | FOXC1 | c.301C>A (p.Leu101Met) | |
| 6 | g.1610746C>G | CA362558511 | FOXC1 | c.301C>G (p.Leu101Val) | |
| 6 | g.1610746C>T | CA448393343 | FOXC1 | c.301C>T (p.Leu101=) | gnomAD v4 |
| 6 | g.1610747T>A | CA362558513 | FOXC1 | c.302T>A (p.Leu101Gln) | |
| 6 | g.1610747T>C | CA362558514 | FOXC1 | c.302T>C (p.Leu101Pro) | |
| 6 | g.1610747T>G | CA362558512 | FOXC1 | c.302T>G (p.Leu101Arg) | |
| 6 | g.1610748G>A | CA448393349 | FOXC1 | c.303G>A (p.Leu101=) | |
| 6 | g.1610748G>C | CA448393350 | FOXC1 | c.303G>C (p.Leu101=) | |
| 6 | g.1610748G>T | CA448393351 | FOXC1 | c.303G>T (p.Leu101=) | |
| 6 | g.1610749A>C | CA362558515 | FOXC1 | c.304A>C (p.Asn102His) | |
| 6 | g.1610749A>G | CA362558516 | FOXC1 | c.304A>G (p.Asn102Asp) | gnomAD v4 |
| 6 | g.1610749A>T | CA362558517 | FOXC1 | c.304A>T (p.Asn102Tyr) | |
| 6 | g.1610750A= | CA1605822483 | FOXC1 | c.305A= (p.Asn102=) |