| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116899_19116923dup | CA2580615853 | TWIST1 | c.399_423dup (p.Lys142AspfsTer?) c.196_220dup c.2_26dup n.750_774dup n.714_738dup | ClinVar |
| 7 | g.19116903_19116923dup | CA915944882 | TWIST1 | c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) c.197_217dup c.3_23dup n.751_771dup n.715_735dup | ClinVar dbSNP |
| 7 | g.19116904_19116924dup | CA891842918 | TWIST1 | c.398_418dup (p.Ser140Ter) c.195_215dup c.1_21dup n.749_769dup n.713_733dup | ClinVar dbSNP |
| 7 | g.19116905_19116925dup | CA658657662 | TWIST1 | c.397_417dup (p.Pro139_Ser140insLysIleIleProThrLeuPro) c.194_214dup n.748_768dup n.712_732dup | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116906_19116926dup | CA658796907 | TWIST1 | c.396_416dup (p.Pro139_Ser140insLysIleIleProThrLeuPro) c.193_213dup n.747_767dup n.711_731dup | ClinVar dbSNP |
| 7 | g.19116906_19116927delinsGGCAGCGTGGGGATGATCTTCC | CA1692250477 | TWIST1 | c.395_416delinsGGAAGATCATCCCCACGCTGCC (p.Arg132=) c.192_213delinsGGAAGATCATCCCCACGCTGCC n.746_767delinsGGAAGATCATCCCCACGCTGCC n.710_731delinsGGAAGATCATCCCCACGCTGCC | |
| 7 | g.19116913_19116933dup | CA2573142038 | TWIST1 | c.395_415dup (p.Leu138_Pro139insArgLysIleIleProThrLeu) c.192_212dup n.746_766dup n.710_730dup | ClinVar dbSNP |
| 7 | g.19116913_19116933del | CA658657663 | TWIST1 | c.395_415del (p.Arg132_Leu138del) c.192_212del n.746_766del n.710_730del | ClinVar dbSNP |
| 7 | g.19116917dup | CA658796908 | TWIST1 | c.408dup (p.Thr137HisfsTer?) c.205dup c.11dup n.759dup n.723dup | ClinVar dbSNP |
| 7 | g.19116917del | CA2580615854 | TWIST1 | c.408del (p.Thr137ArgfsTer7) c.205del c.11del n.759del n.723del | ClinVar |
| 7 | g.19116916_19116936del | CA2695207473 | TWIST1 | c.388_408del (p.Ala130_Pro136del) c.185_205del n.739_759del n.703_723del | |
| 7 | g.19116915G>A | CA367015503 | TWIST1 | c.407C>T (p.Pro136Leu) c.204C>T c.10C>T n.758C>T n.722C>T | ClinVar |
| 7 | g.19116915G>C | CA367015504 | TWIST1 | c.407C>G (p.Pro136Arg) c.204C>G c.10C>G n.758C>G n.722C>G | |
| 7 | g.19116915G>T | CA367015505 | TWIST1 | c.407C>A (p.Pro136His) c.204C>A c.10C>A n.758C>A n.722C>A | COSMIC |
| 7 | g.19116916G>A | CA367015508 | TWIST1 | c.406C>T (p.Pro136Ser) c.203C>T c.9C>T n.757C>T n.721C>T | |
| 7 | g.19116916G>C | CA367015507 | TWIST1 | c.406C>G (p.Pro136Ala) c.203C>G c.9C>G n.757C>G n.721C>G | ClinVar |
| 7 | g.19116916G= | CA1692250506 | TWIST1 | c.406C= (p.Pro136=) c.203C= c.9C= n.757C= n.721C= | |
| 7 | g.19116916G>T | CA367015506 | TWIST1 | c.406C>A (p.Pro136Thr) c.203C>A c.9C>A n.757C>A n.721C>A | ClinVar dbSNP |
| 7 | g.19116917G>A | CA4174489 | TWIST1 | c.405C>T (p.Ile135=) c.202C>T c.8C>T n.756C>T n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116917G>C | CA367015509 | TWIST1 | c.405C>G (p.Ile135Met) c.202C>G c.8C>G n.756C>G n.720C>G | ClinVar dbSNP |
| 7 | g.19116917G= | CA1692250517 | TWIST1 | c.405C= (p.Ile135=) c.202C= c.8C= n.756C= n.720C= | |
| 7 | g.19116917G>T | CA454143704 | TWIST1 | c.405C>A (p.Ile135=) c.202C>A c.8C>A n.756C>A n.720C>A | gnomAD v4 |
| 7 | g.19116920_19116922del | CA2580615855 | TWIST1 | c.403_405del (p.Ile135del) c.200_202del c.6_8del n.754_756del n.718_720del | ClinVar dbSNP |
| 7 | g.19116919_19116939dup | CA4174488 | TWIST1 | c.385_405dup (p.Ile135_Pro136insAlaAlaLeuArgLysIleIle) c.182_202dup n.736_756dup n.700_720dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116918A>C | CA367015510 | TWIST1 | c.404T>G (p.Ile135Ser) c.201T>G c.7T>G n.755T>G n.719T>G | |
| 7 | g.19116918A>G | CA367015511 | TWIST1 | c.404T>C (p.Ile135Thr) c.201T>C c.7T>C n.755T>C n.719T>C | |
| 7 | g.19116918A>T | CA367015512 | TWIST1 | c.404T>A (p.Ile135Asn) c.201T>A c.7T>A n.755T>A n.719T>A | |
| 7 | g.19116919T>A | CA367015513 | TWIST1 | c.403A>T (p.Ile135Phe) c.200A>T c.6A>T n.754A>T n.718A>T | |
| 7 | g.19116919T>C | CA367015514 | TWIST1 | c.403A>G (p.Ile135Val) c.200A>G c.6A>G n.754A>G n.718A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116919T>G | CA367015515 | TWIST1 | c.403A>C (p.Ile135Leu) c.200A>C c.6A>C n.754A>C n.718A>C | |
| 7 | g.19116919T= | CA1692250523 | TWIST1 | c.403A= (p.Ile135=) c.200A= c.6A= n.754A= n.718A= | |
| 7 | g.19116920G>A | CA454143709 | TWIST1 | c.402C>T (p.Ile134=) c.199C>T c.5C>T n.753C>T n.717C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116920G>C | CA367015516 | TWIST1 | c.402C>G (p.Ile134Met) c.199C>G c.5C>G n.753C>G n.717C>G | gnomAD v4 |
| 7 | g.19116920G= | CA1692250525 | TWIST1 | c.402C= (p.Ile134=) c.199C= c.5C= n.753C= n.717C= | |
| 7 | g.19116920G>T | CA454143710 | TWIST1 | c.402C>A (p.Ile134=) c.199C>A c.5C>A n.753C>A n.717C>A | |
| 7 | g.19116921A>C | CA367015517 | TWIST1 | c.401T>G (p.Ile134Ser) c.198T>G c.4T>G n.752T>G n.716T>G | |
| 7 | g.19116921A>G | CA367015518 | TWIST1 | c.401T>C (p.Ile134Thr) c.198T>C c.4T>C n.752T>C n.716T>C | |
| 7 | g.19116921A>T | CA367015519 | TWIST1 | c.401T>A (p.Ile134Asn) c.198T>A c.4T>A n.752T>A n.716T>A | |
| 7 | g.19116921_19116924delinsATCT | CA1692250527 | TWIST1 | c.398_401delinsAGAT (p.Lys133=) c.195_198delinsAGAT c.1_4delinsAGAT n.749_752delinsAGAT n.713_716delinsAGAT | |
| 7 | g.19116922T>A | CA367015520 | TWIST1 | c.400A>T (p.Ile134Phe) c.197A>T c.3A>T n.751A>T n.715A>T | |
| 7 | g.19116922T>C | CA367015521 | TWIST1 | c.400A>G (p.Ile134Val) c.197A>G c.3A>G n.751A>G n.715A>G | |
| 7 | g.19116922T>G | CA367015522 | TWIST1 | c.400A>C (p.Ile134Leu) c.197A>C c.3A>C n.751A>C n.715A>C | gnomAD v4 |
| 7 | g.19116924_19116926del | CA658796909 | TWIST1 | c.398_400del (p.Lys133del) c.195_197del n.749_751del n.713_715del | ClinVar dbSNP |
| 7 | g.19116923C>A | CA367015523 | TWIST1 | c.399G>T (p.Lys133Asn) c.196G>T c.2G>T n.750G>T n.714G>T | gnomAD v4 |
| 7 | g.19116923C>G | CA367015524 | TWIST1 | c.399G>C (p.Lys133Asn) c.196G>C c.2G>C n.750G>C n.714G>C | |
| 7 | g.19116923C>T | CA454143715 | TWIST1 | c.399G>A (p.Lys133=) c.196G>A c.2G>A n.750G>A n.714G>A | gnomAD v4 |
| 7 | g.19116923_19116924delinsAA | CA915944883 | TWIST1 | c.398_399delinsTT (p.Lys133Ile) c.195_196delinsTT c.1_2delinsTT n.749_750delinsTT n.713_714delinsTT | ClinVar dbSNP |
| 7 | g.19116923_19116924delinsCT | CA1692250534 | TWIST1 | c.398_399delinsAG (p.Lys133=) c.195_196delinsAG c.1_2delinsAG n.749_750delinsAG n.713_714delinsAG | |
| 7 | g.19116923_19116942delinsAATCCGCAGCGCGGCGAACT | CA2695207474 | TWIST1 | c.380_399delinsAGTTCGCCGCGCTGCGGATT (p.Ala127_Lys133delinsGluPheAlaAlaLeuArgIle) c.177_196delinsAGTTCGCCGCGCTGCGGATT n.731_750delinsAGTTCGCCGCGCTGCGGATT n.695_714delinsAGTTCGCCGCGCTGCGGATT | |
| 7 | g.19116924T>A | CA367015525 | TWIST1 | c.398A>T (p.Lys133Met) c.195A>T c.1A>T n.749A>T n.713A>T |