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.1610685_1610729del | CA2695205854 | FOXC1 | c.240_284del (p.Tyr81_Pro95del) | |
6 | g.1610713G>A | CA16044261 | FOXC1 | c.268G>A (p.Ala90Thr) | ClinVar dbSNP |
6 | g.1610713G>C | CA362558439 | FOXC1 | c.268G>C (p.Ala90Pro) | |
6 | g.1610713G= | CA1605822462 | FOXC1 | c.268G= (p.Ala90=) | |
6 | g.1610713G>T | CA362558440 | FOXC1 | c.268G>T (p.Ala90Ser) | gnomAD v4 |
6 | g.1610714C>A | CA16044262 | FOXC1 | c.269C>A (p.Ala90Asp) | ClinVar dbSNP |
6 | g.1610714C= | CA1605822463 | FOXC1 | c.269C= (p.Ala90=) | |
6 | g.1610714C>G | CA362558441 | FOXC1 | c.269C>G (p.Ala90Gly) | |
6 | g.1610714C>T | CA362558442 | FOXC1 | c.269C>T (p.Ala90Val) | ClinVar |
6 | g.1610715C>A | CA448393275 | FOXC1 | c.270C>A (p.Ala90=) | |
6 | g.1610715C= | CA1605822464 | FOXC1 | c.270C= (p.Ala90=) | |
6 | g.1610715C>G | CA3614728 | FOXC1 | c.270C>G (p.Ala90=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610715C>T | CA448393277 | FOXC1 | c.270C>T (p.Ala90=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610716A>C | CA362558444 | FOXC1 | c.271A>C (p.Ile91Leu) | |
6 | g.1610716A>G | CA362558445 | FOXC1 | c.271A>G (p.Ile91Val) | |
6 | g.1610716A>T | CA362558443 | FOXC1 | c.271A>T (p.Ile91Phe) | |
6 | g.1610717T>A | CA362558446 | FOXC1 | c.272T>A (p.Ile91Asn) | |
6 | g.1610717T>C | CA362558447 | FOXC1 | c.272T>C (p.Ile91Thr) | |
6 | g.1610717T>G | CA362558448 | FOXC1 | c.272T>G (p.Ile91Ser) | |
6 | g.1610718C>A | CA448393278 | FOXC1 | c.273C>A (p.Ile91=) | |
6 | g.1610718C>G | CA362558449 | FOXC1 | c.273C>G (p.Ile91Met) | |
6 | g.1610718C>T | CA448393280 | FOXC1 | c.273C>T (p.Ile91=) | |
6 | g.1610719C>A | CA362558450 | FOXC1 | c.274C>A (p.Gln92Lys) | gnomAD v4 |
6 | g.1610719C>G | CA362558451 | FOXC1 | c.274C>G (p.Gln92Glu) | gnomAD v4 |
6 | g.1610719C>T | CA362558452 | FOXC1 | c.274C>T (p.Gln92Ter) | ClinVar |
6 | g.1610720A>C | CA362558453 | FOXC1 | c.275A>C (p.Gln92Pro) | ClinVar dbSNP |
6 | g.1610720A>G | CA362558454 | FOXC1 | c.275A>G (p.Gln92Arg) | |
6 | g.1610720A>T | CA362558455 | FOXC1 | c.275A>T (p.Gln92Leu) | |
6 | g.1610721G>A | CA448393281 | FOXC1 | c.276G>A (p.Gln92=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610721G>C | CA362558456 | FOXC1 | c.276G>C (p.Gln92His) | |
6 | g.1610721G= | CA1605822465 | FOXC1 | c.276G= (p.Gln92=) | |
6 | g.1610721G>T | CA3614729 | FOXC1 | c.276G>T (p.Gln92His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610722A>C | CA362558459 | FOXC1 | c.277A>C (p.Asn93His) | |
6 | g.1610722A>G | CA362558457 | FOXC1 | c.277A>G (p.Asn93Asp) | |
6 | g.1610722A>T | CA362558458 | FOXC1 | c.277A>T (p.Asn93Tyr) | |
6 | g.1610723A>C | CA362558460 | FOXC1 | c.278A>C (p.Asn93Thr) | |
6 | g.1610723A>G | CA362558461 | FOXC1 | c.278A>G (p.Asn93Ser) | |
6 | g.1610723A>T | CA362558462 | FOXC1 | c.278A>T (p.Asn93Ile) | |
6 | g.1610724C>A | CA362558463 | FOXC1 | c.279C>A (p.Asn93Lys) | |
6 | g.1610724C= | CA1605822466 | FOXC1 | c.279C= (p.Asn93=) | |
6 | g.1610724C>G | CA362558464 | FOXC1 | c.279C>G (p.Asn93Lys) | |
6 | g.1610724C>T | CA238720 | FOXC1 | c.279C>T (p.Asn93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610725G>A | CA362558465 | FOXC1 | c.280G>A (p.Ala94Thr) | gnomAD v4 |
6 | g.1610725G>C | CA362558466 | FOXC1 | c.280G>C (p.Ala94Pro) | |
6 | g.1610725G= | CA1605822467 | FOXC1 | c.280G= (p.Ala94=) | |
6 | g.1610725G>T | CA362558467 | FOXC1 | c.280G>T (p.Ala94Ser) | dbSNP gnomAD v4 |
6 | g.1610726C>A | CA362558468 | FOXC1 | c.281C>A (p.Ala94Asp) | dbSNP |
6 | g.1610726C= | CA1605822468 | FOXC1 | c.281C= (p.Ala94=) | |
6 | g.1610726C>G | CA362558469 | FOXC1 | c.281C>G (p.Ala94Gly) |