| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.19116916_19116936del | CA2695207473 | TWIST1 | c.388_408del (p.Ala130_Pro136del) c.185_205del n.739_759del n.703_723del | |
| 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.19116923_19116942delinsAATCCGCAGCGCGGCGAACT | CA2695207474 | TWIST1 | c.380_399delinsAGTTCGCCGCGCTGCGGATT (p.Ala127_Lys133delinsGluPheAlaAlaLeuArgIle) c.177_196delinsAGTTCGCCGCGCTGCGGATT n.731_750delinsAGTTCGCCGCGCTGCGGATT n.695_714delinsAGTTCGCCGCGCTGCGGATT | |
| 7 | g.19116930A= | CA1692250554 | TWIST1 | c.392T= (p.Leu131=) c.189T= n.743T= n.707T= | |
| 7 | g.19116930A>C | CA367015537 | TWIST1 | c.392T>G (p.Leu131Arg) c.189T>G n.743T>G n.707T>G | |
| 7 | g.19116930A>G | CA254291 | TWIST1 | c.392T>C (p.Leu131Pro) c.189T>C n.743T>C n.707T>C | ClinVar dbSNP |
| 7 | g.19116930A>T | CA367015536 | TWIST1 | c.392T>A (p.Leu131Gln) c.189T>A n.743T>A n.707T>A | |
| 7 | g.19116931G>A | CA454143727 | TWIST1 | c.391C>T (p.Leu131=) c.188C>T n.742C>T n.706C>T | dbSNP |
| 7 | g.19116931G>C | CA367015538 | TWIST1 | c.391C>G (p.Leu131Val) c.188C>G n.742C>G n.706C>G | |
| 7 | g.19116931G= | CA1692250556 | TWIST1 | c.391C= (p.Leu131=) c.188C= n.742C= n.706C= | |
| 7 | g.19116931G>T | CA367015539 | TWIST1 | c.391C>A (p.Leu131Met) c.188C>A n.742C>A n.706C>A | |
| 7 | g.19116932C>A | CA454143729 | TWIST1 | c.390G>T (p.Ala130=) c.187G>T n.741G>T n.705G>T | |
| 7 | g.19116932C= | CA1692250558 | TWIST1 | c.390G= (p.Ala130=) c.187G= n.741G= n.705G= | |
| 7 | g.19116932C>G | CA4174492 | TWIST1 | c.390G>C (p.Ala130=) c.187G>C n.741G>C n.705G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116932C>T | CA4174491 | TWIST1 | c.390G>A (p.Ala130=) c.187G>A n.741G>A n.705G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116933G>A | CA367015540 | TWIST1 | c.389C>T (p.Ala130Val) c.186C>T n.740C>T n.704C>T | gnomAD v4 |
| 7 | g.19116933G>C | CA367015541 | TWIST1 | c.389C>G (p.Ala130Gly) c.186C>G n.740C>G n.704C>G | |
| 7 | g.19116933G>T | CA367015542 | TWIST1 | c.389C>A (p.Ala130Glu) c.186C>A n.740C>A n.704C>A | |
| 7 | g.19116934C>A | CA367015543 | TWIST1 | c.388G>T (p.Ala130Ser) c.185G>T n.739G>T n.703G>T | gnomAD v4 |
| 7 | g.19116934C>G | CA367015544 | TWIST1 | c.388G>C (p.Ala130Pro) c.185G>C n.739G>C n.703G>C | ClinVar |
| 7 | g.19116934C>T | CA367015545 | TWIST1 | c.388G>A (p.Ala130Thr) c.185G>A n.739G>A n.703G>A | |
| 7 | g.19116935G>A | CA454143734 | TWIST1 | c.387C>T (p.Ala129=) c.184C>T n.738C>T n.702C>T | COSMIC |
| 7 | g.19116935G>C | CA454143736 | TWIST1 | c.387C>G (p.Ala129=) c.184C>G n.738C>G n.702C>G | |
| 7 | g.19116935G>T | CA454143735 | TWIST1 | c.387C>A (p.Ala129=) c.184C>A n.738C>A n.702C>A | gnomAD v4 |
| 7 | g.19116936G>A | CA367015546 | TWIST1 | c.386C>T (p.Ala129Val) c.183C>T n.737C>T n.701C>T | |
| 7 | g.19116936G>C | CA367015547 | TWIST1 | c.386C>G (p.Ala129Gly) c.183C>G n.737C>G n.701C>G | |
| 7 | g.19116936G= | CA1692250561 | TWIST1 | c.386C= (p.Ala129=) c.183C= n.737C= n.701C= | |
| 7 | g.19116936G>T | CA367015548 | TWIST1 | c.386C>A (p.Ala129Asp) c.183C>A n.737C>A n.701C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116937C>A | CA367015550 | TWIST1 | c.385G>T (p.Ala129Ser) c.182G>T n.736G>T n.700G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116937C= | CA1692250565 | TWIST1 | c.385G= (p.Ala129=) c.182G= n.736G= n.700G= | |
| 7 | g.19116937C>G | CA4174493 | TWIST1 | c.385G>C (p.Ala129Pro) c.182G>C n.736G>C n.700G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116937C>T | CA367015549 | TWIST1 | c.385G>A (p.Ala129Thr) c.182G>A n.736G>A n.700G>A | |
| 7 | g.19116938G>A | CA4174494 | TWIST1 | c.384C>T (p.Phe128=) c.181C>T n.735C>T n.699C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116938G>C | CA367015551 | TWIST1 | c.384C>G (p.Phe128Leu) c.181C>G n.735C>G n.699C>G | |
| 7 | g.19116938G= | CA1692250567 | TWIST1 | c.384C= (p.Phe128=) c.181C= n.735C= n.699C= | |
| 7 | g.19116938G>T | CA367015552 | TWIST1 | c.384C>A (p.Phe128Leu) c.181C>A n.735C>A n.699C>A | dbSNP |
| 7 | g.19116938dup | CA1139655103 | TWIST1 | c.384dup (p.Ala129ArgfsTer?) c.181dup n.735dup n.699dup | |
| 7 | g.19116939A>C | CA367015553 | TWIST1 | c.383T>G (p.Phe128Cys) c.180T>G n.734T>G n.698T>G | |
| 7 | g.19116939A>G | CA367015554 | TWIST1 | c.383T>C (p.Phe128Ser) c.180T>C n.734T>C n.698T>C | |
| 7 | g.19116939A>T | CA367015555 | TWIST1 | c.383T>A (p.Phe128Tyr) c.180T>A n.734T>A n.698T>A | |
| 7 | g.19116940A>C | CA367015556 | TWIST1 | c.382T>G (p.Phe128Val) c.179T>G n.733T>G n.697T>G | |
| 7 | g.19116940A>G | CA367015557 | TWIST1 | c.382T>C (p.Phe128Leu) c.179T>C n.733T>C n.697T>C | |
| 7 | g.19116940A>T | CA367015558 | TWIST1 | c.382T>A (p.Phe128Ile) c.179T>A n.733T>A n.697T>A | |
| 7 | g.19116941C>A | CA454143740 | TWIST1 | c.381G>T (p.Ala127=) c.178G>T n.732G>T n.696G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116941C= | CA1692250570 | TWIST1 | c.381G= (p.Ala127=) c.178G= n.732G= n.696G= | |
| 7 | g.19116941C>G | CA454143741 | TWIST1 | c.381G>C (p.Ala127=) c.178G>C n.732G>C n.696G>C | gnomAD v4 |
| 7 | g.19116941C>T | CA454143743 | TWIST1 | c.381G>A (p.Ala127=) c.178G>A n.732G>A n.696G>A | COSMIC |
| 7 | g.19116942_19116944dup | CA2695207475 | TWIST1 | c.379_381dup (p.Ala127_Phe128insAla) c.176_178dup n.730_732dup n.694_696dup |