| 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.1610526_1610545del | CA2499218183 | FOXC1 | c.81_100del (p.Ala28GlyfsTer?) | ClinVar dbSNP |
| 6 | g.1610537_1610545dup | CA1605822344 | FOXC1 | c.92_100dup (p.Ala33_Gly34insAlaAlaAla) | dbSNP gnomAD v4 |
| 6 | g.1610537_1610545del | CA3614694 | FOXC1 | c.92_100del (p.Ala31_Ala33del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610537_1610546delinsCGGCGGCCGG | CA1605822356 | FOXC1 | c.92_101delinsCGGCGGCCGG (p.Ala31=) | |
| 6 | g.1610540_1610548del | CA565356145 | FOXC1 | c.95_103del (p.Ala32_Gly34del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610544_1610553del | CA1147243049 | FOXC1 | c.99_108del (p.Gly34ThrfsTer8) | ClinVar dbSNP |
| 6 | g.1610540_1610549delinsCGGCCGGGGG | CA1605822359 | FOXC1 | c.95_104delinsCGGCCGGGGG (p.Ala32=) | |
| 6 | g.1610541_1610549del | CA1605822360 | FOXC1 | c.96_104del (p.Ala33_Gly35del) | dbSNP gnomAD v4 |
| 6 | g.1610544_1610554delinsCGGGGGCGGCT | CA1605822362 | FOXC1 | c.99_109delinsCGGGGGCGGCT (p.Ala33=) | |
| 6 | g.1610545G>A | CA362558075 | FOXC1 | c.100G>A (p.Gly34Arg) | dbSNP gnomAD v4 |
| 6 | g.1610545G>C | CA362558076 | FOXC1 | c.100G>C (p.Gly34Arg) | gnomAD v4 |
| 6 | g.1610545G= | CA1605822363 | FOXC1 | c.100G= (p.Gly34=) | |
| 6 | g.1610545G>T | CA362558077 | FOXC1 | c.100G>T (p.Gly34Trp) | gnomAD v4 |
| 6 | g.1610549del | CA2578515741 | FOXC1 | c.104del (p.Gly35AlafsTer10) | ClinVar gnomAD v4 |
| 6 | g.1610545_1610554del | CA16044259 | FOXC1 | c.100_109del (p.Gly34ThrfsTer8) | ClinVar dbSNP |
| 6 | g.1610546G>A | CA362558079 | FOXC1 | c.101G>A (p.Gly34Glu) | gnomAD v4 |
| 6 | g.1610546G>C | CA362558080 | FOXC1 | c.101G>C (p.Gly34Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.1610546G= | CA1605822364 | FOXC1 | c.101G= (p.Gly34=) | |
| 6 | g.1610546G>T | CA362558078 | FOXC1 | c.101G>T (p.Gly34Val) | |
| 6 | g.1610547G>A | CA448393345 | FOXC1 | c.102G>A (p.Gly34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.1610547G>C | CA448393346 | FOXC1 | c.102G>C (p.Gly34=) | |
| 6 | g.1610547G= | CA1605822365 | FOXC1 | c.102G= (p.Gly34=) | |
| 6 | g.1610547G>T | CA448393348 | FOXC1 | c.102G>T (p.Gly34=) | |
| 6 | g.1610548G>A | CA133389128 | FOXC1 | c.103G>A (p.Gly35Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.1610548G>C | CA362558081 | FOXC1 | c.103G>C (p.Gly35Arg) | |
| 6 | g.1610548G= | CA1605822366 | FOXC1 | c.103G= (p.Gly35=) | |
| 6 | g.1610548G>T | CA362558082 | FOXC1 | c.103G>T (p.Gly35Cys) | gnomAD v4 |
| 6 | g.1610549G>A | CA362558083 | FOXC1 | c.104G>A (p.Gly35Asp) | gnomAD v4 |
| 6 | g.1610549G>C | CA362558085 | FOXC1 | c.104G>C (p.Gly35Ala) | |
| 6 | g.1610549G>T | CA362558084 | FOXC1 | c.104G>T (p.Gly35Val) | gnomAD v4 |
| 6 | g.1610549_1610550delinsT | CA2695198804 | FOXC1 | c.104_105delinsT (p.Gly35ValfsTer10) | ClinVar |
| 6 | g.1610549_1610550insT | CA2580074183 | FOXC1 | c.104_105insT (p.Gly36ArgfsTer?) | ClinVar |
| 6 | g.1610550C>A | CA448393352 | FOXC1 | c.105C>A (p.Gly35=) | gnomAD v4 |
| 6 | g.1610550C>G | CA448393353 | FOXC1 | c.105C>G (p.Gly35=) | |
| 6 | g.1610550C>T | CA448393354 | FOXC1 | c.105C>T (p.Gly35=) | ClinVar gnomAD v4 |
| 6 | g.1610551G>A | CA362558086 | FOXC1 | c.106G>A (p.Gly36Ser) | dbSNP |
| 6 | g.1610551G>C | CA362558088 | FOXC1 | c.106G>C (p.Gly36Arg) | dbSNP |
| 6 | g.1610551G= | CA1605822367 | FOXC1 | c.106G= (p.Gly36=) | |
| 6 | g.1610551G>T | CA362558087 | FOXC1 | c.106G>T (p.Gly36Cys) | |
| 6 | g.1610552G>A | CA362558089 | FOXC1 | c.107G>A (p.Gly36Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.1610552G>C | CA362558090 | FOXC1 | c.107G>C (p.Gly36Ala) | |
| 6 | g.1610552G= | CA1605822368 | FOXC1 | c.107G= (p.Gly36=) | |
| 6 | g.1610552G>T | CA362558091 | FOXC1 | c.107G>T (p.Gly36Val) | |
| 6 | g.1610553C>A | CA448393359 | FOXC1 | c.108C>A (p.Gly36=) | gnomAD v4 |
| 6 | g.1610553C>G | CA448393360 | FOXC1 | c.108C>G (p.Gly36=) | ClinVar dbSNP |
| 6 | g.1610553C>T | CA448393361 | FOXC1 | c.108C>T (p.Gly36=) | |
| 6 | g.1610554_1610556dup | CA2677060448 | FOXC1 | c.109_111dup (p.Tyr37_Thr38insTyr) | gnomAD v4 |
| 6 | g.1610554T>A | CA362558092 | FOXC1 | c.109T>A (p.Tyr37Asn) | |
| 6 | g.1610554T>C | CA362558093 | FOXC1 | c.109T>C (p.Tyr37His) | dbSNP gnomAD v4 |