| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116958_19116974del | CA2695207476 | TWIST1 | c.348_364del (p.Glu117ValfsTer?) c.145_161del n.699_715del n.663_679del | |
| 7 | g.19116964_19116971del | CA1139655407 | TWIST1 | c.353_360del (p.Arg118HisfsTer?) c.150_157del n.704_711del n.668_675del | |
| 7 | g.19116965_19116966delinsGG | CA2695207477 | TWIST1 | c.356_357delinsCC (p.Gln119Pro) c.153_154delinsCC n.707_708delinsCC n.671_672delinsCC | |
| 7 | g.19116966T>A | CA367015612 | TWIST1 | c.356A>T (p.Gln119Leu) c.153A>T n.707A>T n.671A>T | |
| 7 | g.19116966T>C | CA367015613 | TWIST1 | c.356A>G (p.Gln119Arg) c.153A>G n.707A>G n.671A>G | dbSNP gnomAD v4 |
| 7 | g.19116966T>G | CA254285 | TWIST1 | c.356A>C (p.Gln119Pro) c.153A>C n.707A>C n.671A>C | ClinVar dbSNP |
| 7 | g.19116966T= | CA1692250632 | TWIST1 | c.356A= (p.Gln119=) c.153A= n.707A= n.671A= | |
| 7 | g.19116967G>A | CA367015614 | TWIST1 | c.355C>T (p.Gln119Ter) c.152C>T n.706C>T n.670C>T | |
| 7 | g.19116967G>C | CA367015615 | TWIST1 | c.355C>G (p.Gln119Glu) c.152C>G n.706C>G n.670C>G | |
| 7 | g.19116967G>T | CA367015616 | TWIST1 | c.355C>A (p.Gln119Lys) c.152C>A n.706C>A n.670C>A | |
| 7 | g.19116968del | CA2695207479 | TWIST1 | c.355del (p.Gln119SerfsTer6) c.152del n.706del n.670del | |
| 7 | g.19116968_19116970del | CA2695207478 | TWIST1 | c.353_355del (p.Arg118del) c.150_152del n.704_706del n.668_670del | |
| 7 | g.19116968G>A | CA454143767 | TWIST1 | c.354C>T (p.Arg118=) c.151C>T n.705C>T n.669C>T | |
| 7 | g.19116968G>C | CA454143768 | TWIST1 | c.354C>G (p.Arg118=) c.151C>G n.705C>G n.669C>G | dbSNP gnomAD v4 |
| 7 | g.19116968G>T | CA454143769 | TWIST1 | c.354C>A (p.Arg118=) c.151C>A n.705C>A n.669C>A | |
| 7 | g.19116969C>A | CA367015617 | TWIST1 | c.353G>T (p.Arg118Leu) c.150G>T n.704G>T n.668G>T | |
| 7 | g.19116969C= | CA1692250636 | TWIST1 | c.353G= (p.Arg118=) c.150G= n.704G= n.668G= | |
| 7 | g.19116969C>G | CA367015618 | TWIST1 | c.353G>C (p.Arg118Pro) c.150G>C n.704G>C n.668G>C | |
| 7 | g.19116969C>T | CA367015619 | TWIST1 | c.353G>A (p.Arg118His) c.150G>A n.704G>A n.668G>A | dbSNP gnomAD v2 |
| 7 | g.19116970G>A | CA367015621 | TWIST1 | c.352C>T (p.Arg118Cys) c.149C>T n.703C>T n.667C>T | COSMIC |
| 7 | g.19116970G>C | CA367015622 | TWIST1 | c.352C>G (p.Arg118Gly) c.149C>G n.703C>G n.667C>G | ClinVar dbSNP |
| 7 | g.19116970G= | CA1692250639 | TWIST1 | c.352C= (p.Arg118=) c.149C= n.703C= n.667C= | |
| 7 | g.19116970G>T | CA367015620 | TWIST1 | c.352C>A (p.Arg118Ser) c.149C>A n.703C>A n.667C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116971C>A | CA367015623 | TWIST1 | c.351G>T (p.Glu117Asp) c.148G>T n.702G>T n.666G>T | |
| 7 | g.19116971C= | CA1692250644 | TWIST1 | c.351G= (p.Glu117=) c.148G= n.702G= n.666G= | |
| 7 | g.19116971C>G | CA367015624 | TWIST1 | c.351G>C (p.Glu117Asp) c.148G>C n.702G>C n.666G>C | |
| 7 | g.19116971C>T | CA454143772 | TWIST1 | c.351G>A (p.Glu117=) c.148G>A n.702G>A n.666G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116972T>A | CA367015625 | TWIST1 | c.350A>T (p.Glu117Val) c.147A>T n.701A>T n.665A>T | ClinVar dbSNP |
| 7 | g.19116972T>C | CA367015626 | TWIST1 | c.350A>G (p.Glu117Gly) c.147A>G n.701A>G n.665A>G | ClinVar dbSNP |
| 7 | g.19116972T>G | CA367015627 | TWIST1 | c.350A>C (p.Glu117Ala) c.147A>C n.701A>C n.665A>C | |
| 7 | g.19116972T= | CA1692250648 | TWIST1 | c.350A= (p.Glu117=) c.147A= n.701A= n.665A= | |
| 7 | g.19116973C>A | CA367015628 | TWIST1 | c.349G>T (p.Glu117Ter) c.146G>T n.700G>T n.664G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116973C>G | CA367015629 | TWIST1 | c.349G>C (p.Glu117Gln) c.146G>C n.700G>C n.664G>C | |
| 7 | g.19116973C>T | CA367015630 | TWIST1 | c.349G>A (p.Glu117Lys) c.146G>A n.700G>A n.664G>A | |
| 7 | g.19116974C>A | CA454143776 | TWIST1 | c.348G>T (p.Arg116=) c.145G>T n.699G>T n.663G>T | |
| 7 | g.19116974C= | CA1692250653 | TWIST1 | c.348G= (p.Arg116=) c.145G= n.699G= n.663G= | |
| 7 | g.19116974C>G | CA155466591 | TWIST1 | c.348G>C (p.Arg116=) c.145G>C n.699G>C n.663G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116974C>T | CA454143777 | TWIST1 | c.348G>A (p.Arg116=) c.145G>A n.699G>A n.663G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116975C>A | CA367015631 | TWIST1 | c.347G>T (p.Arg116Leu) c.144G>T n.698G>T n.662G>T | |
| 7 | g.19116975C>G | CA367015632 | TWIST1 | c.347G>C (p.Arg116Pro) c.144G>C n.698G>C n.662G>C | ClinVar |
| 7 | g.19116975C>T | CA367015633 | TWIST1 | c.347G>A (p.Arg116Gln) c.144G>A n.698G>A n.662G>A | |
| 7 | g.19116976G>A | CA367015635 | TWIST1 | c.346C>T (p.Arg116Trp) c.143C>T n.697C>T n.661C>T | COSMIC |
| 7 | g.19116976G>C | CA367015634 | TWIST1 | c.346C>G (p.Arg116Gly) c.143C>G n.697C>G n.661C>G | ClinVar dbSNP |
| 7 | g.19116976G= | CA1692250661 | TWIST1 | c.346C= (p.Arg116=) c.143C= n.697C= n.661C= | |
| 7 | g.19116976G>T | CA454143779 | TWIST1 | c.346C>A (p.Arg116=) c.143C>A n.697C>A n.661C>A | |
| 7 | g.19116977C>A | CA454143780 | TWIST1 | c.345G>T (p.Val115=) c.142G>T n.696G>T n.660G>T | |
| 7 | g.19116977C= | CA1692250663 | TWIST1 | c.345G= (p.Val115=) c.142G= n.696G= n.660G= | |
| 7 | g.19116977C>G | CA454143782 | TWIST1 | c.345G>C (p.Val115=) c.142G>C n.696G>C n.660G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116977C>T | CA454143781 | TWIST1 | c.345G>A (p.Val115=) c.142G>A n.696G>A n.660G>A | dbSNP |
| 7 | g.19116978A>C | CA367015636 | TWIST1 | c.344T>G (p.Val115Gly) c.141T>G n.695T>G n.659T>G | gnomAD v4 |