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.1610644T>A | CA362558284 | FOXC1 | c.199T>A (p.Tyr67Asn) | |
6 | g.1610644T>C | CA362558285 | FOXC1 | c.199T>C (p.Tyr67His) | |
6 | g.1610644T>G | CA362558286 | FOXC1 | c.199T>G (p.Tyr67Asp) | |
6 | g.1610645A>C | CA362558287 | FOXC1 | c.200A>C (p.Tyr67Ser) | |
6 | g.1610645A>G | CA362558288 | FOXC1 | c.200A>G (p.Tyr67Cys) | ClinVar gnomAD v4 |
6 | g.1610645A>T | CA362558289 | FOXC1 | c.200A>T (p.Tyr67Phe) | gnomAD v4 |
6 | g.1610646C>A | CA362558290 | FOXC1 | c.201C>A (p.Tyr67Ter) | |
6 | g.1610646C>G | CA362558291 | FOXC1 | c.201C>G (p.Tyr67Ter) | |
6 | g.1610646C>T | CA448393557 | FOXC1 | c.201C>T (p.Tyr67=) | |
6 | g.1610647A>C | CA362558294 | FOXC1 | c.202A>C (p.Thr68Pro) | |
6 | g.1610647A>G | CA362558292 | FOXC1 | c.202A>G (p.Thr68Ala) | |
6 | g.1610647A>T | CA362558293 | FOXC1 | c.202A>T (p.Thr68Ser) | |
6 | g.1610648C>A | CA362558295 | FOXC1 | c.203C>A (p.Thr68Lys) | |
6 | g.1610648C= | CA1605822432 | FOXC1 | c.203C= (p.Thr68=) | |
6 | g.1610648C>G | CA362558296 | FOXC1 | c.203C>G (p.Thr68Arg) | |
6 | g.1610648C>T | CA362558297 | FOXC1 | c.203C>T (p.Thr68Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610649G>A | CA3614720 | FOXC1 | c.204G>A (p.Thr68=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.1610649G>C | CA133389396 | FOXC1 | c.204G>C (p.Thr68=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610649G= | CA1605822433 | FOXC1 | c.204G= (p.Thr68=) | |
6 | g.1610649G>T | CA133389379 | FOXC1 | c.204G>T (p.Thr68=) | dbSNP |
6 | g.1610658_1610663dup | CA3614719 | FOXC1 | c.213_218dup (p.Pro73_Lys74insGlnPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610658_1610663del | CA2677060449 | FOXC1 | c.213_218del (p.Gln72_Pro73del) | gnomAD v4 |
6 | g.1610650C>A | CA362558298 | FOXC1 | c.205C>A (p.Pro69Thr) | |
6 | g.1610650C= | CA1605822434 | FOXC1 | c.205C= (p.Pro69=) | |
6 | g.1610650C>G | CA362558299 | FOXC1 | c.205C>G (p.Pro69Ala) | ClinVar dbSNP |
6 | g.1610650C>T | CA362558300 | FOXC1 | c.205C>T (p.Pro69Ser) | |
6 | g.1610651del | CA2695205852 | FOXC1 | c.206del (p.Pro69ArgfsTer9) | |
6 | g.1610651C>A | CA362558301 | FOXC1 | c.206C>A (p.Pro69Gln) | |
6 | g.1610651C>G | CA362558302 | FOXC1 | c.206C>G (p.Pro69Arg) | gnomAD v4 |
6 | g.1610651C>T | CA362558303 | FOXC1 | c.206C>T (p.Pro69Leu) | ClinVar gnomAD v4 |
6 | g.1610652G>A | CA448393564 | FOXC1 | c.207G>A (p.Pro69=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610652G>C | CA133389420 | FOXC1 | c.207G>C (p.Pro69=) | dbSNP |
6 | g.1610652G= | CA1605822435 | FOXC1 | c.207G= (p.Pro69=) | |
6 | g.1610652G>T | CA3614721 | FOXC1 | c.207G>T (p.Pro69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610653C>A | CA362558304 | FOXC1 | c.208C>A (p.Gln70Lys) | |
6 | g.1610653C>G | CA362558305 | FOXC1 | c.208C>G (p.Gln70Glu) | |
6 | g.1610653C>T | CA362558306 | FOXC1 | c.208C>T (p.Gln70Ter) | ClinVar |
6 | g.1610654A>C | CA362558307 | FOXC1 | c.209A>C (p.Gln70Pro) | |
6 | g.1610654A>G | CA362558308 | FOXC1 | c.209A>G (p.Gln70Arg) | |
6 | g.1610654A>T | CA362558309 | FOXC1 | c.209A>T (p.Gln70Leu) | |
6 | g.1610655del | CA2695205853 | FOXC1 | c.210del (p.Gln70HisfsTer8) | |
6 | g.1610655G>A | CA448393565 | FOXC1 | c.210G>A (p.Gln70=) | |
6 | g.1610655G>C | CA362558310 | FOXC1 | c.210G>C (p.Gln70His) | |
6 | g.1610655G>T | CA362558311 | FOXC1 | c.210G>T (p.Gln70His) | |
6 | g.1610656C>A | CA362558312 | FOXC1 | c.211C>A (p.Pro71Thr) | |
6 | g.1610656C>G | CA362558313 | FOXC1 | c.211C>G (p.Pro71Ala) | |
6 | g.1610656C>T | CA362558314 | FOXC1 | c.211C>T (p.Pro71Ser) | gnomAD v4 |
6 | g.1610657C>A | CA362558315 | FOXC1 | c.212C>A (p.Pro71Gln) | |
6 | g.1610657C>G | CA362558316 | FOXC1 | c.212C>G (p.Pro71Arg) |