| 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.1611031_1611082delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG | CA1605822624 | FOXC1 | c.586_637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG (p.Pro196=) | |
| 6 | g.1611032_1611083del | CA2499218186 | FOXC1 | c.587_638del (p.Pro196ArgfsTer?) | ClinVar dbSNP |
| 6 | g.1611039_1611089del | CA565356194 | FOXC1 | c.594_644del (p.Arg199_Gly215del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1611056_1611106del | CA2677060459 | FOXC1 | c.611_661del (p.Ala204_Pro220del) | gnomAD v4 |
| 6 | g.1611063G>A | CA448393497 | FOXC1 | c.618G>A (p.Pro206=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1611063G>C | CA448393498 | FOXC1 | c.618G>C (p.Pro206=) | |
| 6 | g.1611063G= | CA1605822652 | FOXC1 | c.618G= (p.Pro206=) | |
| 6 | g.1611063G>T | CA448393499 | FOXC1 | c.618G>T (p.Pro206=) | |
| 6 | g.1611064G>A | CA362559213 | FOXC1 | c.619G>A (p.Glu207Lys) | gnomAD v4 |
| 6 | g.1611064G>C | CA362559214 | FOXC1 | c.619G>C (p.Glu207Gln) | gnomAD v3 gnomAD v4 |
| 6 | g.1611064G>T | CA362559215 | FOXC1 | c.619G>T (p.Glu207Ter) | |
| 6 | g.1611065A>C | CA362559216 | FOXC1 | c.620A>C (p.Glu207Ala) | |
| 6 | g.1611065A>G | CA362559217 | FOXC1 | c.620A>G (p.Glu207Gly) | |
| 6 | g.1611065A>T | CA362559218 | FOXC1 | c.620A>T (p.Glu207Val) | |
| 6 | g.1611066G>A | CA448393503 | FOXC1 | c.621G>A (p.Glu207=) | gnomAD v4 |
| 6 | g.1611066G>C | CA362559219 | FOXC1 | c.621G>C (p.Glu207Asp) | gnomAD v3 gnomAD v4 |
| 6 | g.1611066G>T | CA362559220 | FOXC1 | c.621G>T (p.Glu207Asp) | |
| 6 | g.1611067C>A | CA362559221 | FOXC1 | c.622C>A (p.Gln208Lys) | |
| 6 | g.1611067C>G | CA362559223 | FOXC1 | c.622C>G (p.Gln208Glu) | gnomAD v4 |
| 6 | g.1611067C>T | CA362559222 | FOXC1 | c.622C>T (p.Gln208Ter) | gnomAD v4 |
| 6 | g.1611067_1611068insCG | CA2538721429 | FOXC1 | c.622_623insCG (p.Gln208ProfsTer?) | |
| 6 | g.1611068A= | CA1605822653 | FOXC1 | c.623A= (p.Gln208=) | |
| 6 | g.1611068A>C | CA362559224 | FOXC1 | c.623A>C (p.Gln208Pro) | gnomAD v4 |
| 6 | g.1611068A>G | CA3614796 | FOXC1 | c.623A>G (p.Gln208Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.1611068A>T | CA362559225 | FOXC1 | c.623A>T (p.Gln208Leu) | |
| 6 | g.1611069G>A | CA448393506 | FOXC1 | c.624G>A (p.Gln208=) | |
| 6 | g.1611069G>C | CA362559226 | FOXC1 | c.624G>C (p.Gln208His) | |
| 6 | g.1611069G= | CA1605822654 | FOXC1 | c.624G= (p.Gln208=) | |
| 6 | g.1611069G>T | CA362559227 | FOXC1 | c.624G>T (p.Gln208His) | dbSNP |
| 6 | g.1611070G>A | CA362559228 | FOXC1 | c.625G>A (p.Ala209Thr) | gnomAD v4 |
| 6 | g.1611070G>C | CA362559230 | FOXC1 | c.625G>C (p.Ala209Pro) | gnomAD v4 |
| 6 | g.1611070G>T | CA362559229 | FOXC1 | c.625G>T (p.Ala209Ser) | |
| 6 | g.1611071C>A | CA362559231 | FOXC1 | c.626C>A (p.Ala209Asp) | |
| 6 | g.1611071C= | CA1605822655 | FOXC1 | c.626C= (p.Ala209=) | |
| 6 | g.1611071C>G | CA362559232 | FOXC1 | c.626C>G (p.Ala209Gly) | |
| 6 | g.1611071C>T | CA362559233 | FOXC1 | c.626C>T (p.Ala209Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1611072C>A | CA448393512 | FOXC1 | c.627C>A (p.Ala209=) | dbSNP gnomAD v4 |
| 6 | g.1611072C= | CA1605822656 | FOXC1 | c.627C= (p.Ala209=) | |
| 6 | g.1611072C>G | CA448393510 | FOXC1 | c.627C>G (p.Ala209=) | |
| 6 | g.1611072C>T | CA3614797 | FOXC1 | c.627C>T (p.Ala209=) | dbSNP ExAC gnomAD v4 |
| 6 | g.1611073G>A | CA362559234 | FOXC1 | c.628G>A (p.Asp210Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1611073G>C | CA362559235 | FOXC1 | c.628G>C (p.Asp210His) | |
| 6 | g.1611073G= | CA1605822657 | FOXC1 | c.628G= (p.Asp210=) | |
| 6 | g.1611073G>T | CA362559236 | FOXC1 | c.628G>T (p.Asp210Tyr) | |
| 6 | g.1611074A>C | CA362559237 | FOXC1 | c.629A>C (p.Asp210Ala) | |
| 6 | g.1611074A>G | CA362559238 | FOXC1 | c.629A>G (p.Asp210Gly) | gnomAD v4 |
| 6 | g.1611074A>T | CA362559239 | FOXC1 | c.629A>T (p.Asp210Val) | |
| 6 | g.1611075C>A | CA362559240 | FOXC1 | c.630C>A (p.Asp210Glu) | gnomAD v4 |
| 6 | g.1611075C= | CA1605822658 | FOXC1 | c.630C= (p.Asp210=) |