| 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.1610680C>A | CA362558367 | FOXC1 | c.235C>A (p.Pro79Thr) | |
| 6 | g.1610680C= | CA1605822445 | FOXC1 | c.235C= (p.Pro79=) | |
| 6 | g.1610680C>G | CA362558368 | FOXC1 | c.235C>G (p.Pro79Ala) | |
| 6 | g.1610680C>T | CA362558369 | FOXC1 | c.235C>T (p.Pro79Ser) | ClinVar dbSNP |
| 6 | g.1610681C>A | CA362558370 | FOXC1 | c.236C>A (p.Pro79Gln) | ClinVar |
| 6 | g.1610681C>G | CA362558371 | FOXC1 | c.236C>G (p.Pro79Arg) | |
| 6 | g.1610681C>T | CA362558372 | FOXC1 | c.236C>T (p.Pro79Leu) | |
| 6 | g.1610682G>A | CA448393595 | FOXC1 | c.237G>A (p.Pro79=) | gnomAD v4 |
| 6 | g.1610682G>C | CA448393596 | FOXC1 | c.237G>C (p.Pro79=) | dbSNP |
| 6 | g.1610682G= | CA1605822446 | FOXC1 | c.237G= (p.Pro79=) | |
| 6 | g.1610682G>T | CA448393598 | FOXC1 | c.237G>T (p.Pro79=) | dbSNP gnomAD v4 |
| 6 | g.1610683C>A | CA362558373 | FOXC1 | c.238C>A (p.Pro80Thr) | |
| 6 | g.1610683C>G | CA362558374 | FOXC1 | c.238C>G (p.Pro80Ala) | |
| 6 | g.1610683C>T | CA362558375 | FOXC1 | c.238C>T (p.Pro80Ser) | |
| 6 | g.1610685_1610729del | CA2695205854 | FOXC1 | c.240_284del (p.Tyr81_Pro95del) | |
| 6 | g.1610684C>A | CA362558378 | FOXC1 | c.239C>A (p.Pro80His) | |
| 6 | g.1610684C>G | CA362558376 | FOXC1 | c.239C>G (p.Pro80Arg) | |
| 6 | g.1610684C>T | CA362558377 | FOXC1 | c.239C>T (p.Pro80Leu) | gnomAD v4 |
| 6 | g.1610685C>A | CA448393601 | FOXC1 | c.240C>A (p.Pro80=) | |
| 6 | g.1610685C= | CA1605822447 | FOXC1 | c.240C= (p.Pro80=) | |
| 6 | g.1610685C>G | CA448393602 | FOXC1 | c.240C>G (p.Pro80=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1610685C>T | CA448393600 | FOXC1 | c.240C>T (p.Pro80=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610686T>A | CA362558379 | FOXC1 | c.241T>A (p.Tyr81Asn) | |
| 6 | g.1610686T>C | CA362558380 | FOXC1 | c.241T>C (p.Tyr81His) | ClinVar |
| 6 | g.1610686T>G | CA362558381 | FOXC1 | c.241T>G (p.Tyr81Asp) | |
| 6 | g.1610686_1610688del | CA2573140133 | FOXC1 | c.241_243del (p.Tyr81del) | ClinVar dbSNP |
| 6 | g.1610686_1610688dup | CA2695205855 | FOXC1 | c.241_243dup (p.Tyr81_Ser82insTyr) | |
| 6 | g.1610687A= | CA1605822448 | FOXC1 | c.242A= (p.Tyr81=) | |
| 6 | g.1610687A>C | CA362558382 | FOXC1 | c.242A>C (p.Tyr81Ser) | |
| 6 | g.1610687A>G | CA362558383 | FOXC1 | c.242A>G (p.Tyr81Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610687A>T | CA362558384 | FOXC1 | c.242A>T (p.Tyr81Phe) | |
| 6 | g.1610688T>A | CA362558385 | FOXC1 | c.243T>A (p.Tyr81Ter) | |
| 6 | g.1610688T>C | CA448393605 | FOXC1 | c.243T>C (p.Tyr81=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610688T>G | CA362558386 | FOXC1 | c.243T>G (p.Tyr81Ter) | |
| 6 | g.1610688T= | CA1605822449 | FOXC1 | c.243T= (p.Tyr81=) | |
| 6 | g.1610689A>C | CA362558387 | FOXC1 | c.244A>C (p.Ser82Arg) | |
| 6 | g.1610689A>G | CA362558388 | FOXC1 | c.244A>G (p.Ser82Gly) | |
| 6 | g.1610689A>T | CA362558389 | FOXC1 | c.244A>T (p.Ser82Cys) | |
| 6 | g.1610689dup | CA2499218185 | FOXC1 | c.244dup (p.Ser82LysfsTer?) | ClinVar dbSNP |
| 6 | g.1610690G>A | CA362558391 | FOXC1 | c.245G>A (p.Ser82Asn) | |
| 6 | g.1610690G>C | CA119639 | FOXC1 | c.245G>C (p.Ser82Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1610690G= | CA1605822450 | FOXC1 | c.245G= (p.Ser82=) | |
| 6 | g.1610690G>T | CA362558390 | FOXC1 | c.245G>T (p.Ser82Ile) | |
| 6 | g.1610691C>A | CA362558392 | FOXC1 | c.246C>A (p.Ser82Arg) | ClinVar dbSNP |
| 6 | g.1610691C= | CA1605822451 | FOXC1 | c.246C= (p.Ser82=) | |
| 6 | g.1610691C>G | CA10588415 | FOXC1 | c.246C>G (p.Ser82Arg) | ClinVar dbSNP |
| 6 | g.1610691C>T | CA133389544 | FOXC1 | c.246C>T (p.Ser82=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.1610692T>A | CA362558393 | FOXC1 | c.247T>A (p.Tyr83Asn) | |
| 6 | g.1610692T>C | CA362558394 | FOXC1 | c.247T>C (p.Tyr83His) |