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.1610742_1610773delinsCACCCTGAACGGCATCTACCAGTTCATCATGG | CA1605822479 | FOXC1 | c.297_328delinsCACCCTGAACGGCATCTACCAGTTCATCATGG (p.Ile99=) | |
6 | g.1610746_1610776del | CA916082800 | FOXC1 | c.301_331del (p.Leu101AlafsTer?) | ClinVar dbSNP |
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=) | |
6 | g.1610750A>C | CA362558518 | FOXC1 | c.305A>C (p.Asn102Thr) | |
6 | g.1610750A>G | CA133389665 | FOXC1 | c.305A>G (p.Asn102Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610750A>T | CA362558519 | FOXC1 | c.305A>T (p.Asn102Ile) | |
6 | g.1610751C>A | CA362558521 | FOXC1 | c.306C>A (p.Asn102Lys) | |
6 | g.1610751C= | CA1605822484 | FOXC1 | c.306C= (p.Asn102=) | |
6 | g.1610751C>G | CA362558520 | FOXC1 | c.306C>G (p.Asn102Lys) | |
6 | g.1610751C>T | CA3614732 | FOXC1 | c.306C>T (p.Asn102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610752G>A | CA362558522 | FOXC1 | c.307G>A (p.Gly103Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610752G>C | CA362558523 | FOXC1 | c.307G>C (p.Gly103Arg) | ClinVar gnomAD v4 |
6 | g.1610752G= | CA1605822485 | FOXC1 | c.307G= (p.Gly103=) | |
6 | g.1610752G>T | CA362558524 | FOXC1 | c.307G>T (p.Gly103Cys) | |
6 | g.1610753G>A | CA362558525 | FOXC1 | c.308G>A (p.Gly103Asp) | |
6 | g.1610753G>C | CA362558526 | FOXC1 | c.308G>C (p.Gly103Ala) | |
6 | g.1610753G>T | CA362558527 | FOXC1 | c.308G>T (p.Gly103Val) | |
6 | g.1610754C>A | CA448393362 | FOXC1 | c.309C>A (p.Gly103=) | |
6 | g.1610754C= | CA1605822486 | FOXC1 | c.309C= (p.Gly103=) | |
6 | g.1610754C>G | CA448393363 | FOXC1 | c.309C>G (p.Gly103=) | |
6 | g.1610754C>T | CA448393365 | FOXC1 | c.309C>T (p.Gly103=) | ClinVar dbSNP gnomAD v4 |
6 | g.1610755A>C | CA362558529 | FOXC1 | c.310A>C (p.Ile104Leu) | |
6 | g.1610755A>G | CA362558530 | FOXC1 | c.310A>G (p.Ile104Val) | |
6 | g.1610755A>T | CA362558528 | FOXC1 | c.310A>T (p.Ile104Phe) | |
6 | g.1610756T>A | CA362558532 | FOXC1 | c.311T>A (p.Ile104Asn) | |
6 | g.1610756T>C | CA362558531 | FOXC1 | c.311T>C (p.Ile104Thr) | ClinVar |
6 | g.1610756T>G | CA362558533 | FOXC1 | c.311T>G (p.Ile104Ser) | |
6 | g.1610757C>A | CA448393368 | FOXC1 | c.312C>A (p.Ile104=) | |
6 | g.1610757C= | CA1605822487 | FOXC1 | c.312C= (p.Ile104=) | |
6 | g.1610757C>G | CA362558534 | FOXC1 | c.312C>G (p.Ile104Met) | |
6 | g.1610757C>T | CA3614733 | FOXC1 | c.312C>T (p.Ile104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610758T>A | CA362558535 | FOXC1 | c.313T>A (p.Tyr105Asn) | |
6 | g.1610758T>C | CA362558537 | FOXC1 | c.313T>C (p.Tyr105His) | |
6 | g.1610758T>G | CA362558536 | FOXC1 | c.313T>G (p.Tyr105Asp) | |
6 | g.1610759A>C | CA362558538 | FOXC1 | c.314A>C (p.Tyr105Ser) | |
6 | g.1610759A>G | CA362558539 | FOXC1 | c.314A>G (p.Tyr105Cys) | gnomAD v4 |
6 | g.1610759A>T | CA362558540 | FOXC1 | c.314A>T (p.Tyr105Phe) | |
6 | g.1610759dup | CA2695205859 | FOXC1 | c.314dup (p.Tyr105Ter) | |
6 | g.1610760C>A | CA362558541 | FOXC1 | c.315C>A (p.Tyr105Ter) | |
6 | g.1610760C= | CA1605822488 | FOXC1 | c.315C= (p.Tyr105=) | |
6 | g.1610760C>G | CA362558542 | FOXC1 | c.315C>G (p.Tyr105Ter) | ClinVar |
6 | g.1610760C>T | CA3614734 | FOXC1 | c.315C>T (p.Tyr105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610761C>A | CA362558543 | FOXC1 | c.316C>A (p.Gln106Lys) | |
6 | g.1610761C= | CA1605822489 | FOXC1 | c.316C= (p.Gln106=) | |
6 | g.1610761C>G | CA362558544 | FOXC1 | c.316C>G (p.Gln106Glu) | |
6 | g.1610761C>T | CA16044263 | FOXC1 | c.316C>T (p.Gln106Ter) | ClinVar dbSNP |