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.1610557_1610565delinsACCGCCATG | CA1605822372 | FOXC1 | c.112_120delinsACCGCCATG (p.Thr38=) | |
6 | g.1610561_1610568del | CA16044260 | FOXC1 | c.116_123del (p.Ala39GlyfsTer?) | ClinVar dbSNP |
6 | g.1610561C>A | CA362558108 | FOXC1 | c.116C>A (p.Ala39Asp) | |
6 | g.1610561C>G | CA362558109 | FOXC1 | c.116C>G (p.Ala39Gly) | |
6 | g.1610561C>T | CA362558110 | FOXC1 | c.116C>T (p.Ala39Val) | gnomAD v4 |
6 | g.1610562C>A | CA448393372 | FOXC1 | c.117C>A (p.Ala39=) | |
6 | g.1610562C= | CA1605822376 | FOXC1 | c.117C= (p.Ala39=) | |
6 | g.1610562C>G | CA448393373 | FOXC1 | c.117C>G (p.Ala39=) | |
6 | g.1610562C>T | CA448393374 | FOXC1 | c.117C>T (p.Ala39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.1610563A= | CA1605822377 | FOXC1 | c.118A= (p.Met40=) | |
6 | g.1610563A>C | CA362558111 | FOXC1 | c.118A>C (p.Met40Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610563A>G | CA362558112 | FOXC1 | c.118A>G (p.Met40Val) | gnomAD v4 |
6 | g.1610563A>T | CA362558113 | FOXC1 | c.118A>T (p.Met40Leu) | |
6 | g.1610564T>A | CA362558114 | FOXC1 | c.119T>A (p.Met40Lys) | |
6 | g.1610564T>C | CA362558115 | FOXC1 | c.119T>C (p.Met40Thr) | |
6 | g.1610564T>G | CA362558116 | FOXC1 | c.119T>G (p.Met40Arg) | |
6 | g.1610565G>A | CA362558117 | FOXC1 | c.120G>A (p.Met40Ile) | |
6 | g.1610565G>C | CA362558119 | FOXC1 | c.120G>C (p.Met40Ile) | |
6 | g.1610565G= | CA1605822378 | FOXC1 | c.120G= (p.Met40=) | |
6 | g.1610565G>T | CA362558118 | FOXC1 | c.120G>T (p.Met40Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610566C>A | CA362558120 | FOXC1 | c.121C>A (p.Pro41Thr) | |
6 | g.1610566C= | CA1605822379 | FOXC1 | c.121C= (p.Pro41=) | |
6 | g.1610566C>G | CA362558121 | FOXC1 | c.121C>G (p.Pro41Ala) | gnomAD v4 |
6 | g.1610566C>T | CA3614699 | FOXC1 | c.121C>T (p.Pro41Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.1610567C>A | CA362558122 | FOXC1 | c.122C>A (p.Pro41Gln) | dbSNP |
6 | g.1610567C= | CA1605822380 | FOXC1 | c.122C= (p.Pro41=) | |
6 | g.1610567C>G | CA362558123 | FOXC1 | c.122C>G (p.Pro41Arg) | ClinVar gnomAD v4 |
6 | g.1610567C>T | CA362558124 | FOXC1 | c.122C>T (p.Pro41Leu) | dbSNP gnomAD v4 |
6 | g.1610568G>A | CA448393383 | FOXC1 | c.123G>A (p.Pro41=) | |
6 | g.1610568G>C | CA448393381 | FOXC1 | c.123G>C (p.Pro41=) | gnomAD v4 |
6 | g.1610568G>T | CA448393380 | FOXC1 | c.123G>T (p.Pro41=) | |
6 | g.1610569G>A | CA362558125 | FOXC1 | c.124G>A (p.Ala42Thr) | gnomAD v4 |
6 | g.1610569G>C | CA362558126 | FOXC1 | c.124G>C (p.Ala42Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.1610569G= | CA1605822381 | FOXC1 | c.124G= (p.Ala42=) | |
6 | g.1610569G>T | CA3614700 | FOXC1 | c.124G>T (p.Ala42Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.1610570C>A | CA362558127 | FOXC1 | c.125C>A (p.Ala42Asp) | gnomAD v4 |
6 | g.1610570C>G | CA362558128 | FOXC1 | c.125C>G (p.Ala42Gly) | |
6 | g.1610570C>T | CA362558129 | FOXC1 | c.125C>T (p.Ala42Val) | gnomAD v4 |
6 | g.1610571C>A | CA448393386 | FOXC1 | c.126C>A (p.Ala42=) | gnomAD v4 |
6 | g.1610571C= | CA1605822382 | FOXC1 | c.126C= (p.Ala42=) | |
6 | g.1610571C>G | CA448393388 | FOXC1 | c.126C>G (p.Ala42=) | |
6 | g.1610571C>T | CA448393389 | FOXC1 | c.126C>T (p.Ala42=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.1610572C>A | CA362558132 | FOXC1 | c.127C>A (p.Pro43Thr) | dbSNP gnomAD v4 |
6 | g.1610572C= | CA1605822383 | FOXC1 | c.127C= (p.Pro43=) | |
6 | g.1610572C>G | CA362558131 | FOXC1 | c.127C>G (p.Pro43Ala) | |
6 | g.1610572C>T | CA362558130 | FOXC1 | c.127C>T (p.Pro43Ser) | dbSNP gnomAD v4 |
6 | g.1610573C>A | CA362558133 | FOXC1 | c.128C>A (p.Pro43His) | |
6 | g.1610573C>G | CA362558134 | FOXC1 | c.128C>G (p.Pro43Arg) | |
6 | g.1610573C>T | CA362558135 | FOXC1 | c.128C>T (p.Pro43Leu) |