| 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.19116968_19116970del | CA2695207478 | TWIST1 | c.353_355del (p.Arg118del) c.150_152del n.704_706del n.668_670del | |
| 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 | ClinVar |
| 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 |
| 7 | g.19116978A>G | CA367015637 | TWIST1 | c.344T>C (p.Val115Ala) c.141T>C n.695T>C n.659T>C | |
| 7 | g.19116978A>T | CA367015638 | TWIST1 | c.344T>A (p.Val115Glu) c.141T>A n.695T>A n.659T>A | |
| 7 | g.19116979C>A | CA367015639 | TWIST1 | c.343G>T (p.Val115Leu) c.140G>T n.694G>T n.658G>T | |
| 7 | g.19116979C= | CA1692250666 | TWIST1 | c.343G= (p.Val115=) c.140G= n.694G= n.658G= | |
| 7 | g.19116979C>G | CA367015640 | TWIST1 | c.343G>C (p.Val115Leu) c.140G>C n.694G>C n.658G>C | dbSNP gnomAD v2 |
| 7 | g.19116979C>T | CA367015641 | TWIST1 | c.343G>A (p.Val115Met) c.140G>A n.694G>A n.658G>A | |
| 7 | g.19116980G>A | CA4174499 | TWIST1 | c.342C>T (p.Asn114=) c.139C>T n.693C>T n.657C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116980G>C | CA367015642 | TWIST1 | c.342C>G (p.Asn114Lys) c.139C>G n.693C>G n.657C>G | gnomAD v4 |
| 7 | g.19116980G= | CA1692250668 | TWIST1 | c.342C= (p.Asn114=) c.139C= n.693C= n.657C= | |
| 7 | g.19116980G>T | CA367015643 | TWIST1 | c.342C>A (p.Asn114Lys) c.139C>A n.693C>A n.657C>A | |
| 7 | g.19116981_19116997del | CA2695207480 | TWIST1 | c.326_342del (p.Gln109ArgfsTer?) c.123_139del n.677_693del n.641_657del | |
| 7 | g.19116981T>A | CA367015644 | TWIST1 | c.341A>T (p.Asn114Ile) c.138A>T n.692A>T n.656A>T | |
| 7 | g.19116981T>C | CA367015645 | TWIST1 | c.341A>G (p.Asn114Ser) c.138A>G n.692A>G n.656A>G | |
| 7 | g.19116981T>G | CA367015646 | TWIST1 | c.341A>C (p.Asn114Thr) c.138A>C n.692A>C n.656A>C | ClinVar dbSNP |
| 7 | g.19116981T= | CA1692250671 | TWIST1 | c.341A= (p.Asn114=) c.138A= n.692A= n.656A= | |
| 7 | g.19116982T>A | CA367015649 | TWIST1 | c.340A>T (p.Asn114Tyr) c.137A>T n.691A>T n.655A>T | gnomAD v4 |
| 7 | g.19116982T>C | CA367015648 | TWIST1 | c.340A>G (p.Asn114Asp) c.137A>G n.691A>G n.655A>G | |
| 7 | g.19116982T>G | CA367015647 | TWIST1 | c.340A>C (p.Asn114His) c.137A>C n.691A>C n.655A>C | |
| 7 | g.19116983G>A | CA454143791 | TWIST1 | c.339C>T (p.Ala113=) c.136C>T n.690C>T n.654C>T | gnomAD v4 |
| 7 | g.19116983G>C | CA454143793 | TWIST1 | c.339C>G (p.Ala113=) c.136C>G n.690C>G n.654C>G | |
| 7 | g.19116983G>T | CA454143794 | TWIST1 | c.339C>A (p.Ala113=) c.136C>A n.690C>A n.654C>A | |
| 7 | g.19116984_19116985insGTGGG | CA2681939410 | TWIST1 | c.339_340insCACCC (p.Asn114HisfsTer13) c.136_137insCACCC n.690_691insCACCC n.654_655insCACCC | gnomAD v4 |
| 7 | g.19116983_19116984dup | CA2573142039 | TWIST1 | c.338_339dup (p.Asn114ProfsTer12) c.135_136dup n.689_690dup n.653_654dup | ClinVar dbSNP |
| 7 | g.19116984G>A | CA367015650 | TWIST1 | c.338C>T (p.Ala113Val) c.135C>T n.689C>T n.653C>T | |
| 7 | g.19116984G>C | CA367015652 | TWIST1 | c.338C>G (p.Ala113Gly) c.135C>G n.689C>G n.653C>G | |
| 7 | g.19116984G>T | CA367015651 | TWIST1 | c.338C>A (p.Ala113Asp) c.135C>A n.689C>A n.653C>A | gnomAD v4 |
| 7 | g.19116985C>A | CA367015653 | TWIST1 | c.337G>T (p.Ala113Ser) c.134G>T n.688G>T n.652G>T | |
| 7 | g.19116985C>G | CA367015654 | TWIST1 | c.337G>C (p.Ala113Pro) c.134G>C n.688G>C n.652G>C | |
| 7 | g.19116985C>T | CA367015655 | TWIST1 | c.337G>A (p.Ala113Thr) c.134G>A n.688G>A n.652G>A | gnomAD v4 |
| 7 | g.19116986del | CA2695207481 | TWIST1 | c.337del (p.Ala113ProfsTer12) c.134del n.688del n.652del | |
| 7 | g.19116986C>A | CA367015656 | TWIST1 | c.336G>T (p.Met112Ile) c.133G>T n.687G>T n.651G>T | |
| 7 | g.19116986C= | CA1692250674 | TWIST1 | c.336G= (p.Met112=) c.133G= n.687G= n.651G= | |
| 7 | g.19116986C>G | CA367015657 | TWIST1 | c.336G>C (p.Met112Ile) c.133G>C n.687G>C n.651G>C | |
| 7 | g.19116986C>T | CA367015658 | TWIST1 | c.336G>A (p.Met112Ile) c.133G>A n.687G>A n.651G>A | gnomAD v4 |
| 7 | g.19116986_19116987insTGTCTCCGG | CA2681939411 | TWIST1 | c.335_336insCCGGAGACA (p.Met112delinsIleArgArgGln) c.132_133insCCGGAGACA n.686_687insCCGGAGACA n.650_651insCCGGAGACA | gnomAD v4 |
| 7 | g.19116987A>C | CA367015659 | TWIST1 | c.335T>G (p.Met112Arg) c.132T>G n.686T>G n.650T>G | |
| 7 | g.19116987A>G | CA367015660 | TWIST1 | c.335T>C (p.Met112Thr) c.132T>C n.686T>C n.650T>C | gnomAD v4 |
| 7 | g.19116987A>T | CA367015661 | TWIST1 | c.335T>A (p.Met112Lys) c.132T>A n.686T>A n.650T>A | |
| 7 | g.19116987_19116988insGGA | CA155466592 | TWIST1 | c.335_336insCCT (p.Met112delinsIleLeu) c.132_133insCCT n.686_687insCCT n.650_651insCCT | dbSNP |
| 7 | g.19116987_19116988insAATTCGAGGTTGGGCCTT | CA2681939412 | TWIST1 | c.334_335insAAGGCCCAACCTCGAATT (p.Met112delinsLysGlyProThrSerAsnLeu) c.131_132insAAGGCCCAACCTCGAATT n.685_686insAAGGCCCAACCTCGAATT n.649_650insAAGGCCCAACCTCGAATT | gnomAD v4 |
| 7 | g.19116988T>A | CA367015662 | TWIST1 | c.334A>T (p.Met112Leu) c.131A>T n.685A>T n.649A>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116988T>C | CA367015663 | TWIST1 | c.334A>G (p.Met112Val) c.131A>G n.685A>G n.649A>G | dbSNP gnomAD v2 |
| 7 | g.19116988T>G | CA155466593 | TWIST1 | c.334A>C (p.Met112Leu) c.131A>C n.685A>C n.649A>C | dbSNP |
| 7 | g.19116988T= | CA1692250683 | TWIST1 | c.334A= (p.Met112=) c.131A= n.685A= n.649A= | |
| 7 | g.19116989G>A | CA454143802 | TWIST1 | c.333C>T (p.Val111=) c.130C>T n.684C>T n.648C>T | dbSNP gnomAD v2 |
| 7 | g.19116989G>C | CA454143803 | TWIST1 | c.333C>G (p.Val111=) c.130C>G n.684C>G n.648C>G | |
| 7 | g.19116989G= | CA1692250689 | TWIST1 | c.333C= (p.Val111=) c.130C= n.684C= n.648C= | |
| 7 | g.19116989G>T | CA4174500 | TWIST1 | c.333C>A (p.Val111=) c.130C>A n.684C>A n.648C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116990_19116994del | CA2695207482 | TWIST1 | c.329_333del (p.Arg110HisfsTer?) c.126_130del n.680_684del n.644_648del | |
| 7 | g.19116990A>C | CA367015664 | TWIST1 | c.332T>G (p.Val111Gly) c.129T>G n.683T>G n.647T>G | |
| 7 | g.19116990A>G | CA367015665 | TWIST1 | c.332T>C (p.Val111Ala) c.129T>C n.683T>C n.647T>C | |
| 7 | g.19116990A>T | CA367015666 | TWIST1 | c.332T>A (p.Val111Asp) c.129T>A n.683T>A n.647T>A | |
| 7 | g.19116991C>A | CA367015667 | TWIST1 | c.331G>T (p.Val111Phe) c.128G>T n.682G>T n.646G>T | gnomAD v4 |
| 7 | g.19116991C= | CA1692250691 | TWIST1 | c.331G= (p.Val111=) c.128G= n.682G= n.646G= | |
| 7 | g.19116991C>G | CA367015668 | TWIST1 | c.331G>C (p.Val111Leu) c.128G>C n.682G>C n.646G>C | |
| 7 | g.19116991C>T | CA155466594 | TWIST1 | c.331G>A (p.Val111Ile) c.128G>A n.682G>A n.646G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116993del | CA2695207483 | TWIST1 | c.331del (p.Val111SerfsTer14) c.128del n.682del n.646del | |
| 7 | g.19116992C>A | CA454143811 | TWIST1 | c.330G>T (p.Arg110=) c.127G>T n.681G>T n.645G>T | |
| 7 | g.19116992C= | CA1692250693 | TWIST1 | c.330G= (p.Arg110=) c.127G= n.681G= n.645G= | |
| 7 | g.19116992C>G | CA155466595 | TWIST1 | c.330G>C (p.Arg110=) c.127G>C n.681G>C n.645G>C | dbSNP |
| 7 | g.19116992C>T | CA4174501 | TWIST1 | c.330G>A (p.Arg110=) c.127G>A n.681G>A n.645G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116993C>A | CA367015669 | TWIST1 | c.329G>T (p.Arg110Leu) c.126G>T n.680G>T n.644G>T | |
| 7 | g.19116993C= | CA1692250699 | TWIST1 | c.329G= (p.Arg110=) c.126G= n.680G= n.644G= | |
| 7 | g.19116993C>G | CA367015670 | TWIST1 | c.329G>C (p.Arg110Pro) c.126G>C n.680G>C n.644G>C | ClinVar dbSNP |
| 7 | g.19116993C>T | CA367015671 | TWIST1 | c.329G>A (p.Arg110Gln) c.126G>A n.680G>A n.644G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116994G>A | CA367015672 | TWIST1 | c.328C>T (p.Arg110Trp) c.125C>T n.679C>T n.643C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116994G>C | CA367015673 | TWIST1 | c.328C>G (p.Arg110Gly) c.125C>G n.679C>G n.643C>G | ClinVar gnomAD v4 |
| 7 | g.19116994G= | CA1692250702 | TWIST1 | c.328C= (p.Arg110=) c.125C= n.679C= n.643C= | |
| 7 | g.19116994G>T | CA454143815 | TWIST1 | c.328C>A (p.Arg110=) c.125C>A n.679C>A n.643C>A | |
| 7 | g.19116995C>A | CA367015674 | TWIST1 | c.327G>T (p.Gln109His) c.124G>T n.678G>T n.642G>T | |
| 7 | g.19116995C>G | CA367015675 | TWIST1 | c.327G>C (p.Gln109His) c.124G>C n.678G>C n.642G>C | |
| 7 | g.19116995C>T | CA454143818 | TWIST1 | c.327G>A (p.Gln109=) c.124G>A n.678G>A n.642G>A | |
| 7 | g.19116996T>A | CA367015676 | TWIST1 | c.326A>T (p.Gln109Leu) c.123A>T n.677A>T n.641A>T | gnomAD v4 |
| 7 | g.19116996T>C | CA367015677 | TWIST1 | c.326A>G (p.Gln109Arg) c.123A>G n.677A>G n.641A>G | |
| 7 | g.19116996T>G | CA367015678 | TWIST1 | c.326A>C (p.Gln109Pro) c.123A>C n.677A>C n.641A>C | |
| 7 | g.19116997G>A | CA367015679 | TWIST1 | c.325C>T (p.Gln109Ter) c.122C>T n.676C>T n.640C>T | ClinVar COSMIC |
| 7 | g.19116997G>C | CA367015680 | TWIST1 | c.325C>G (p.Gln109Glu) c.122C>G n.676C>G n.640C>G | ClinVar |
| 7 | g.19116997G>T | CA367015681 | TWIST1 | c.325C>A (p.Gln109Lys) c.122C>A n.676C>A n.640C>A | |
| 7 | g.19116998C>A | CA4174503 | TWIST1 | c.324G>T (p.Thr108=) c.121G>T n.675G>T n.639G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116998C= | CA1692250707 | TWIST1 | c.324G= (p.Thr108=) c.121G= n.675G= n.639G= | |
| 7 | g.19116998C>G | CA4174502 | TWIST1 | c.324G>C (p.Thr108=) c.121G>C n.675G>C n.639G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116998C>T | CA454143825 | TWIST1 | c.324G>A (p.Thr108=) c.121G>A n.675G>A n.639G>A | gnomAD v4 |
| 7 | g.19116999G>A | CA367015682 | TWIST1 | c.323C>T (p.Thr108Met) c.120C>T n.674C>T n.638C>T | dbSNP gnomAD v4 COSMIC |
| 7 | g.19116999G>C | CA155466596 | TWIST1 | c.323C>G (p.Thr108Arg) c.120C>G n.674C>G n.638C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116999G= | CA1692250710 | TWIST1 | c.323C= (p.Thr108=) c.120C= n.674C= n.638C= | |
| 7 | g.19116999G>T | CA367015683 | TWIST1 | c.323C>A (p.Thr108Lys) c.120C>A n.674C>A n.638C>A | |
| 7 | g.19117000T>A | CA367015684 | TWIST1 | c.322A>T (p.Thr108Ser) c.119A>T n.673A>T n.637A>T | |
| 7 | g.19117000T>C | CA367015685 | TWIST1 | c.322A>G (p.Thr108Ala) c.119A>G n.673A>G n.637A>G | dbSNP gnomAD v4 |
| 7 | g.19117000T>G | CA367015686 | TWIST1 | c.322A>C (p.Thr108Pro) c.119A>C n.673A>C n.637A>C | |
| 7 | g.19117000T= | CA1692250713 | TWIST1 | c.322A= (p.Thr108=) c.119A= n.673A= n.637A= | |
| 7 | g.19117001C>A | CA367015687 | TWIST1 | c.321G>T (p.Gln107His) c.118G>T n.672G>T n.636G>T | gnomAD v4 |
| 7 | g.19117001C= | CA1692250719 | TWIST1 | c.321G= (p.Gln107=) c.118G= n.672G= n.636G= | |
| 7 | g.19117001C>G | CA367015688 | TWIST1 | c.321G>C (p.Gln107His) c.118G>C n.672G>C n.636G>C | dbSNP |
| 7 | g.19117001C>T | CA454143835 | TWIST1 | c.321G>A (p.Gln107=) c.118G>A n.672G>A n.636G>A | |
| 7 | g.19117001dup | CA1139659987 | TWIST1 | c.321dup (p.Thr108AspfsTer?) c.118dup n.672dup n.636dup | ClinVar dbSNP |
| 7 | g.19117002T>A | CA367015689 | TWIST1 | c.320A>T (p.Gln107Leu) c.117A>T n.671A>T n.635A>T | |
| 7 | g.19117002T>C | CA367015690 | TWIST1 | c.320A>G (p.Gln107Arg) c.117A>G n.671A>G n.635A>G | gnomAD v4 |
| 7 | g.19117002T>G | CA367015691 | TWIST1 | c.320A>C (p.Gln107Pro) c.117A>C n.671A>C n.635A>C | |
| 7 | g.19117003G>A | CA367015692 | TWIST1 | c.319C>T (p.Gln107Ter) c.116C>T n.670C>T n.634C>T | ClinVar |
| 7 | g.19117003G>C | CA367015693 | TWIST1 | c.319C>G (p.Gln107Glu) c.116C>G n.670C>G n.634C>G | |
| 7 | g.19117003G>T | CA367015694 | TWIST1 | c.319C>A (p.Gln107Lys) c.116C>A n.670C>A n.634C>A | |
| 7 | g.19117004C>A | CA454143836 | TWIST1 | c.318G>T (p.Leu106=) c.115G>T n.669G>T n.633G>T | |
| 7 | g.19117004C= | CA1692250722 | TWIST1 | c.318G= (p.Leu106=) c.115G= n.669G= n.633G= | |
| 7 | g.19117004C>G | CA454143837 | TWIST1 | c.318G>C (p.Leu106=) c.115G>C n.669G>C n.633G>C | |
| 7 | g.19117004C>T | CA454143838 | TWIST1 | c.318G>A (p.Leu106=) c.115G>A n.669G>A n.633G>A | dbSNP |
| 7 | g.19117005A>C | CA367015695 | TWIST1 | c.317T>G (p.Leu106Arg) c.114T>G n.668T>G n.632T>G | |
| 7 | g.19117005A>G | CA367015696 | TWIST1 | c.317T>C (p.Leu106Pro) c.114T>C n.668T>C n.632T>C | |
| 7 | g.19117005A>T | CA367015697 | TWIST1 | c.317T>A (p.Leu106Gln) c.114T>A n.668T>A n.632T>A | |
| 7 | g.19117006G>A | CA454143842 | TWIST1 | c.316C>T (p.Leu106=) c.113C>T n.667C>T n.631C>T | dbSNP gnomAD v4 |
| 7 | g.19117006G>C | CA367015698 | TWIST1 | c.316C>G (p.Leu106Val) c.113C>G n.667C>G n.631C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117006G= | CA1692250727 | TWIST1 | c.316C= (p.Leu106=) c.113C= n.667C= n.631C= | |
| 7 | g.19117006G>T | CA367015699 | TWIST1 | c.316C>A (p.Leu106Met) c.113C>A n.667C>A n.631C>A | |
| 7 | g.19117007C>A | CA367015700 | TWIST1 | c.315G>T (p.Glu105Asp) c.112G>T n.666G>T n.630G>T | gnomAD v4 |
| 7 | g.19117007C= | CA1692250731 | TWIST1 | c.315G= (p.Glu105=) c.112G= n.666G= n.630G= | |
| 7 | g.19117007C>G | CA4174504 | TWIST1 | c.315G>C (p.Glu105Asp) c.112G>C n.666G>C n.630G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117007C>T | CA454143847 | TWIST1 | c.315G>A (p.Glu105=) c.112G>A n.666G>A n.630G>A | gnomAD v4 |
| 7 | g.19117008T>A | CA367015702 | TWIST1 | c.314A>T (p.Glu105Val) c.111A>T n.665A>T n.629A>T | gnomAD v4 |
| 7 | g.19117008T>C | CA367015703 | TWIST1 | c.314A>G (p.Glu105Gly) c.111A>G n.665A>G n.629A>G | |
| 7 | g.19117008T>G | CA367015701 | TWIST1 | c.314A>C (p.Glu105Ala) c.111A>C n.665A>C n.629A>C | |
| 7 | g.19117009C>A | CA367015704 | TWIST1 | c.313G>T (p.Glu105Ter) c.110G>T n.664G>T n.628G>T | gnomAD v4 |
| 7 | g.19117009C>G | CA367015706 | TWIST1 | c.313G>C (p.Glu105Gln) c.110G>C n.664G>C n.628G>C | gnomAD v4 |
| 7 | g.19117009C>T | CA367015705 | TWIST1 | c.313G>A (p.Glu105Lys) c.110G>A n.664G>A n.628G>A | |
| 7 | g.19117010C>A | CA367015707 | TWIST1 | c.312G>T (p.Glu104Asp) c.109G>T n.663G>T n.627G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117010C= | CA1692250734 | TWIST1 | c.312G= (p.Glu104=) c.109G= n.663G= n.627G= | |
| 7 | g.19117010C>G | CA367015708 | TWIST1 | c.312G>C (p.Glu104Asp) c.109G>C n.663G>C n.627G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117010C>T | CA4174505 | TWIST1 | c.312G>A (p.Glu104=) c.109G>A n.663G>A n.627G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117011T>A | CA367015709 | TWIST1 | c.311A>T (p.Glu104Val) c.108A>T n.662A>T n.626A>T | |
| 7 | g.19117011T>C | CA367015711 | TWIST1 | c.311A>G (p.Glu104Gly) c.108A>G n.662A>G n.626A>G | |
| 7 | g.19117011T>G | CA367015710 | TWIST1 | c.311A>C (p.Glu104Ala) c.108A>C n.662A>C n.626A>C | |
| 7 | g.19117012C>A | CA367015712 | TWIST1 | c.310G>T (p.Glu104Ter) c.107G>T n.661G>T n.625G>T | ClinVar dbSNP |
| 7 | g.19117012C= | CA1692250737 | TWIST1 | c.310G= (p.Glu104=) c.107G= n.661G= n.625G= | |
| 7 | g.19117012C>G | CA4174506 | TWIST1 | c.310G>C (p.Glu104Gln) c.107G>C n.661G>C n.625G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117012C>T | CA367015713 | TWIST1 | c.310G>A (p.Glu104Lys) c.107G>A n.661G>A n.625G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117013del | CA2695207484 | TWIST1 | c.309del (p.Tyr103Ter) c.106del n.660del n.624del | |
| 7 | g.19117013G>A | CA454143858 | TWIST1 | c.309C>T (p.Tyr103=) c.106C>T n.660C>T n.624C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117013G>C | CA155466597 | TWIST1 | c.309C>G (p.Tyr103Ter) c.106C>G n.660C>G n.624C>G | ClinVar dbSNP |
| 7 | g.19117013G= | CA1692250741 | TWIST1 | c.309C= (p.Tyr103=) c.106C= n.660C= n.624C= | |
| 7 | g.19117013G>T | CA254286 | TWIST1 | c.309C>A (p.Tyr103Ter) c.106C>A n.660C>A n.624C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117014T>A | CA155466598 | TWIST1 | c.308A>T (p.Tyr103Phe) c.105A>T n.659A>T n.623A>T | dbSNP |
| 7 | g.19117014T>C | CA367015714 | TWIST1 | c.308A>G (p.Tyr103Cys) c.105A>G n.659A>G n.623A>G | gnomAD v4 |
| 7 | g.19117014T>G | CA367015715 | TWIST1 | c.308A>C (p.Tyr103Ser) c.105A>C n.659A>C n.623A>C | |
| 7 | g.19117014T= | CA1692250750 | TWIST1 | c.308A= (p.Tyr103=) c.105A= n.659A= n.623A= | |
| 7 | g.19117014dup | CA254283 | TWIST1 | c.308dup (p.Tyr103Ter) c.105dup n.659dup n.623dup | ClinVar dbSNP |
| 7 | g.19117014_19117016delinsTAA | CA1692250753 | TWIST1 | c.306_308delinsTTA (p.Ser102=) c.103_105delinsTTA n.657_659delinsTTA n.621_623delinsTTA | |
| 7 | g.19117015A>C | CA367015716 | TWIST1 | c.307T>G (p.Tyr103Asp) c.104T>G n.658T>G n.622T>G | |
| 7 | g.19117015A>G | CA367015717 | TWIST1 | c.307T>C (p.Tyr103His) c.104T>C n.658T>C n.622T>C | gnomAD v4 |
| 7 | g.19117015A>T | CA367015718 | TWIST1 | c.307T>A (p.Tyr103Asn) c.104T>A n.658T>A n.622T>A | |
| 7 | g.19117015_19117016del | CA915944884 | TWIST1 | c.306_307del (p.Tyr103ArgfsTer?) c.103_104del n.657_658del n.621_622del | ClinVar dbSNP |
| 7 | g.19117016A= | CA1692250758 | TWIST1 | c.306T= (p.Ser102=) c.103T= n.657T= n.621T= | |
| 7 | g.19117016A>C | CA454143863 | TWIST1 | c.306T>G (p.Ser102=) c.103T>G n.657T>G n.621T>G | |
| 7 | g.19117016A>G | CA155466599 | TWIST1 | c.306T>C (p.Ser102=) c.103T>C n.657T>C n.621T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117016A>T | CA4174507 | TWIST1 | c.306T>A (p.Ser102=) c.103T>A n.657T>A n.621T>A | dbSNP ExAC gnomAD v4 |
| 7 | g.19117017G>A | CA367015719 | TWIST1 | c.305C>T (p.Ser102Phe) c.102C>T n.656C>T n.620C>T | gnomAD v4 |
| 7 | g.19117017G>C | CA4174508 | TWIST1 | c.305C>G (p.Ser102Cys) c.102C>G n.656C>G n.620C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117017G= | CA1692250761 | TWIST1 | c.305C= (p.Ser102=) c.102C= n.656C= n.620C= | |
| 7 | g.19117017G>T | CA367015720 | TWIST1 | c.305C>A (p.Ser102Tyr) c.102C>A n.656C>A n.620C>A | gnomAD v4 |
| 7 | g.19117018A= | CA1692250764 | TWIST1 | c.304T= (p.Ser102=) c.101T= n.655T= n.619T= | |
| 7 | g.19117018A>C | CA367015721 | TWIST1 | c.304T>G (p.Ser102Ala) c.101T>G n.655T>G n.619T>G | dbSNP |
| 7 | g.19117018A>G | CA367015722 | TWIST1 | c.304T>C (p.Ser102Pro) c.101T>C n.655T>C n.619T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117018A>T | CA4174509 | TWIST1 | c.304T>A (p.Ser102Thr) c.101T>A n.655T>A n.619T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117019C>A | CA367015723 | TWIST1 | c.303G>T (p.Gln101His) c.100G>T n.654G>T n.618G>T | gnomAD v4 |
| 7 | g.19117019C= | CA1692250768 | TWIST1 | c.303G= (p.Gln101=) c.100G= n.654G= n.618G= | |
| 7 | g.19117019C>G | CA4174510 | TWIST1 | c.303G>C (p.Gln101His) c.100G>C n.654G>C n.618G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117019C>T | CA4174511 | TWIST1 | c.303G>A (p.Gln101=) c.100G>A n.654G>A n.618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117020T>A | CA367015724 | TWIST1 | c.302A>T (p.Gln101Leu) c.99A>T n.653A>T n.617A>T | gnomAD v4 |
| 7 | g.19117020T>C | CA4174512 | TWIST1 | c.302A>G (p.Gln101Arg) c.99A>G n.653A>G n.617A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117020T>G | CA367015725 | TWIST1 | c.302A>C (p.Gln101Pro) c.99A>C n.653A>C n.617A>C | |
| 7 | g.19117020T= | CA1692250770 | TWIST1 | c.302A= (p.Gln101=) c.99A= n.653A= n.617A= | |
| 7 | g.19117021G>A | CA367015728 | TWIST1 | c.301C>T (p.Gln101Ter) c.98C>T n.652C>T n.616C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117021G>C | CA367015727 | TWIST1 | c.301C>G (p.Gln101Glu) c.98C>G n.652C>G n.616C>G | |
| 7 | g.19117021G= | CA1692250773 | TWIST1 | c.301C= (p.Gln101=) c.98C= n.652C= n.616C= | |
| 7 | g.19117021G>T | CA367015726 | TWIST1 | c.301C>A (p.Gln101Lys) c.98C>A n.652C>A n.616C>A | gnomAD v4 |
| 7 | g.19117022C>A | CA4174513 | TWIST1 | c.300G>T (p.Pro100=) c.97G>T n.651G>T n.615G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117022C= | CA1692250780 | TWIST1 | c.300G= (p.Pro100=) c.97G= n.651G= n.615G= | |
| 7 | g.19117022C>G | CA454143875 | TWIST1 | c.300G>C (p.Pro100=) c.97G>C n.651G>C n.615G>C | |
| 7 | g.19117022C>T | CA454143877 | TWIST1 | c.300G>A (p.Pro100=) c.97G>A n.651G>A n.615G>A | gnomAD v4 COSMIC |
| 7 | g.19117023G>A | CA367015729 | TWIST1 | c.299C>T (p.Pro100Leu) c.96C>T n.650C>T n.614C>T | |
| 7 | g.19117023G>C | CA367015730 | TWIST1 | c.299C>G (p.Pro100Arg) c.96C>G n.650C>G n.614C>G | |
| 7 | g.19117023G>T | CA367015731 | TWIST1 | c.299C>A (p.Pro100Gln) c.96C>A n.650C>A n.614C>A | gnomAD v4 |
| 7 | g.19117024G>A | CA367015732 | TWIST1 | c.298C>T (p.Pro100Ser) c.95C>T n.649C>T n.613C>T | COSMIC |
| 7 | g.19117024G>C | CA367015733 | TWIST1 | c.298C>G (p.Pro100Ala) c.95C>G n.649C>G n.613C>G | |
| 7 | g.19117024G>T | CA367015734 | TWIST1 | c.298C>A (p.Pro100Thr) c.95C>A n.649C>A n.613C>A | gnomAD v4 |
| 7 | g.19117025A>C | CA367015735 | TWIST1 | c.297T>G (p.Ser99Arg) c.94T>G n.648T>G n.612T>G | dbSNP gnomAD v4 |
| 7 | g.19117025A>G | CA454143881 | TWIST1 | c.297T>C (p.Ser99=) c.94T>C n.648T>C n.612T>C | gnomAD v4 |
| 7 | g.19117025A>T | CA367015736 | TWIST1 | c.297T>A (p.Ser99Arg) c.94T>A n.648T>A n.612T>A | |
| 7 | g.19117025_19117040delinsACTCCCGCCGCCGCTG | CA1692250783 | TWIST1 | c.282_297delinsCAGCGGCGGCGGGAGT (p.Ser94=) c.79_94delinsCAGCGGCGGCGGGAGT n.633_648delinsCAGCGGCGGCGGGAGT n.597_612delinsCAGCGGCGGCGGGAGT | |
| 7 | g.19117025_19117042del | CA2580615856 | TWIST1 | c.280_297del (p.Ser94_Ser99del) c.77_94del n.631_648del n.595_612del | ClinVar |
| 7 | g.19117025_19117043delinsACTCCCGCCGCCGCTGCTG | CA1692250785 | TWIST1 | c.279_297delinsCAGCAGCGGCGGCGGGAGT (p.Ser93=) c.76_94delinsCAGCAGCGGCGGCGGGAGT n.630_648delinsCAGCAGCGGCGGCGGGAGT n.594_612delinsCAGCAGCGGCGGCGGGAGT | |
| 7 | g.19117026C>A | CA367015737 | TWIST1 | c.296G>T (p.Ser99Ile) c.93G>T n.647G>T n.611G>T | gnomAD v4 |
| 7 | g.19117026C= | CA1692250794 | TWIST1 | c.296G= (p.Ser99=) c.93G= n.647G= n.611G= | |
| 7 | g.19117026C>G | CA367015739 | TWIST1 | c.296G>C (p.Ser99Thr) c.93G>C n.647G>C n.611G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117026C>T | CA367015738 | TWIST1 | c.296G>A (p.Ser99Asn) c.93G>A n.647G>A n.611G>A | |
| 7 | g.19117028_19117042del | CA836362195 | TWIST1 | c.282_296del (p.Ser95_Ser99del) c.79_93del n.633_647del n.597_611del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117028_19117045del | CA573294103 | TWIST1 | c.279_296del (p.Ser94_Ser99del) c.76_93del n.630_647del n.594_611del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117027T>A | CA367015740 | TWIST1 | c.295A>T (p.Ser99Cys) c.92A>T n.646A>T n.610A>T | |
| 7 | g.19117027T>C | CA367015741 | TWIST1 | c.295A>G (p.Ser99Gly) c.92A>G n.646A>G n.610A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117027T>G | CA367015742 | TWIST1 | c.295A>C (p.Ser99Arg) c.92A>C n.646A>C n.610A>C | |
| 7 | g.19117027T= | CA1692250799 | TWIST1 | c.295A= (p.Ser99=) c.92A= n.646A= n.610A= | |
| 7 | g.19117027_19117048delinsTCCCGCCGCCGCTGCTGCTGCC | CA1692250797 | TWIST1 | c.274_295delinsGGCAGCAGCAGCGGCGGCGGGA (p.Gly92=) c.71_92delinsGGCAGCAGCAGCGGCGGCGGGA n.625_646delinsGGCAGCAGCAGCGGCGGCGGGA n.589_610delinsGGCAGCAGCAGCGGCGGCGGGA | |
| 7 | g.19117028C>A | CA454143888 | TWIST1 | c.294G>T (p.Gly98=) c.91G>T n.645G>T n.609G>T | gnomAD v4 |
| 7 | g.19117028C= | CA1692250806 | TWIST1 | c.294G= (p.Gly98=) c.91G= n.645G= n.609G= | |
| 7 | g.19117028C>G | CA454143889 | TWIST1 | c.294G>C (p.Gly98=) c.91G>C n.645G>C n.609G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117028C>T | CA454143890 | TWIST1 | c.294G>A (p.Gly98=) c.91G>A n.645G>A n.609G>A | gnomAD v4 COSMIC |
| 7 | g.19117029_19117033del | CA2740097308 | TWIST1 | c.290_294del (p.Gly97GlufsTer?) c.87_91del n.641_645del n.605_609del | ClinVar |
| 7 | g.19117028_19117046delinsCCCGCCGCCGCTGCTGCTG | CA1692250808 | TWIST1 | c.276_294delinsCAGCAGCAGCGGCGGCGGG (p.Gly92=) c.73_91delinsCAGCAGCAGCGGCGGCGGG n.627_645delinsCAGCAGCAGCGGCGGCGGG n.591_609delinsCAGCAGCAGCGGCGGCGGG | |
| 7 | g.19117028_19117048del | CA836362211 | TWIST1 | c.274_294del (p.Gly92_Gly98del) c.71_91del n.625_645del n.589_609del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117028_19117049delinsCCCGCCGCCGCTGCTGCTGCCG | CA1692250807 | TWIST1 | c.273_294delinsCGGCAGCAGCAGCGGCGGCGGG (p.Gly91=) c.70_91delinsCGGCAGCAGCAGCGGCGGCGGG n.624_645delinsCGGCAGCAGCAGCGGCGGCGGG n.588_609delinsCGGCAGCAGCAGCGGCGGCGGG | |
| 7 | g.19117033_19117063del | CA2681939413 | TWIST1 | c.264_294del (p.Gly89ValfsTer26) c.61_91del n.615_645del n.579_609del | gnomAD v4 |
| 7 | g.19117029C>A | CA155466601 | TWIST1 | c.293G>T (p.Gly98Val) c.90G>T n.644G>T n.608G>T | dbSNP gnomAD v4 |
| 7 | g.19117029C= | CA1692250822 | TWIST1 | c.293G= (p.Gly98=) c.90G= n.644G= n.608G= | |
| 7 | g.19117029C>G | CA367015744 | TWIST1 | c.293G>C (p.Gly98Ala) c.90G>C n.644G>C n.608G>C | |
| 7 | g.19117029C>T | CA367015743 | TWIST1 | c.293G>A (p.Gly98Glu) c.90G>A n.644G>A n.608G>A | gnomAD v4 |
| 7 | g.19117036_19117038dup | CA4174515 | TWIST1 | c.291_293dup (p.Gly98_Ser99insGly) c.88_90dup n.642_644dup n.606_608dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117036_19117038del | CA2681939417 | TWIST1 | c.291_293del (p.Gly98del) c.88_90del n.642_644del n.606_608del | gnomAD v4 |
| 7 | g.19117039_19117056dup | CA155466600 | TWIST1 | c.276_293dup (p.Gly98_Ser99insSerSerSerGlyGlyGly) c.73_90dup n.627_644dup n.591_608dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117039_19117056del | CA4174514 | TWIST1 | c.276_293del (p.Ser93_Gly98del) c.73_90del n.627_644del n.591_608del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117039_19117059dup | CA916082913 | TWIST1 | c.273_293dup (p.Gly98_Ser99insGlySerSerSerGlyGlyGly) c.70_90dup n.624_644dup n.588_608dup | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117039_19117059del | CA573294104 | TWIST1 | c.273_293del (p.Gly92_Gly98del) c.70_90del n.624_644del n.588_608del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117037_19117060del | CA2681939416 | TWIST1 | c.270_293del (p.Gly91_Gly98del) c.67_90del n.621_644del n.585_608del | gnomAD v4 |
| 7 | g.19117029_19117062delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG | CA1692250824 | TWIST1 | c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG (p.Ala87=) c.57_90delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG n.611_644delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG n.575_608delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG | |
| 7 | g.19117039_19117074dup | CA2681939418 | TWIST1 | c.258_293dup (p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSerGlyGlyGly) c.55_90dup n.609_644dup n.573_608dup | gnomAD v4 |
| 7 | g.19117039_19117074del | CA2681939415 | TWIST1 | c.258_293del (p.Ala87_Gly98del) c.55_90del n.609_644del n.573_608del | dbSNP gnomAD v4 |
| 7 | g.19117039_19117077del | CA2681939414 | TWIST1 | c.255_293del (p.Gly86_Gly98del) c.52_90del n.606_644del n.570_608del | gnomAD v4 |
| 7 | g.19117030C>A | CA367015745 | TWIST1 | c.292G>T (p.Gly98Trp) c.89G>T n.643G>T n.607G>T | |
| 7 | g.19117030C= | CA1692250830 | TWIST1 | c.292G= (p.Gly98=) c.89G= n.643G= n.607G= | |
| 7 | g.19117030C>G | CA367015746 | TWIST1 | c.292G>C (p.Gly98Arg) c.89G>C n.643G>C n.607G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117030C>T | CA367015747 | TWIST1 | c.292G>A (p.Gly98Arg) c.89G>A n.643G>A n.607G>A | gnomAD v4 |
| 7 | g.19117030_19117045delinsCGCCGCCGCTGCTGCT | CA1692250832 | TWIST1 | c.277_292delinsAGCAGCAGCGGCGGCG (p.Ser93=) c.74_89delinsAGCAGCAGCGGCGGCG n.628_643delinsAGCAGCAGCGGCGGCG n.592_607delinsAGCAGCAGCGGCGGCG | |
| 7 | g.19117039_19117071del | CA4174516 | TWIST1 | c.260_292del (p.Ala87_Gly97del) c.57_89del n.611_643del n.575_607del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117031G>A | CA155466602 | TWIST1 | c.291C>T (p.Gly97=) c.88C>T n.642C>T n.606C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117031G>C | CA454143895 | TWIST1 | c.291C>G (p.Gly97=) c.88C>G n.642C>G n.606C>G | dbSNP |
| 7 | g.19117031G= | CA1692250837 | TWIST1 | c.291C= (p.Gly97=) c.88C= n.642C= n.606C= | |
| 7 | g.19117031G>T | CA454143896 | TWIST1 | c.291C>A (p.Gly97=) c.88C>A n.642C>A n.606C>A | gnomAD v4 |
| 7 | g.19117039_19117053dup | CA573294106 | TWIST1 | c.277_291dup (p.Gly97_Gly98insSerSerSerGlyGly) c.74_88dup n.628_642dup n.592_606dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117039_19117053del | CA573294105 | TWIST1 | c.277_291del (p.Ser93_Gly97del) c.74_88del n.628_642del n.592_606del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117032C>A | CA367015748 | TWIST1 | c.290G>T (p.Gly97Val) c.87G>T n.641G>T n.605G>T | gnomAD v4 |
| 7 | g.19117032C>G | CA367015749 | TWIST1 | c.290G>C (p.Gly97Ala) c.87G>C n.641G>C n.605G>C | gnomAD v4 |
| 7 | g.19117032C>T | CA367015750 | TWIST1 | c.290G>A (p.Gly97Asp) c.87G>A n.641G>A n.605G>A | gnomAD v4 |
| 7 | g.19117033C>A | CA367015751 | TWIST1 | c.289G>T (p.Gly97Cys) c.86G>T n.640G>T n.604G>T | gnomAD v4 |
| 7 | g.19117033C= | CA1692250842 | TWIST1 | c.289G= (p.Gly97=) c.86G= n.640G= n.604G= | |
| 7 | g.19117033C>G | CA367015752 | TWIST1 | c.289G>C (p.Gly97Arg) c.86G>C n.640G>C n.604G>C | |
| 7 | g.19117033C>T | CA367015753 | TWIST1 | c.289G>A (p.Gly97Ser) c.86G>A n.640G>A n.604G>A | COSMIC |
| 7 | g.19117034G>A | CA454143907 | TWIST1 | c.288C>T (p.Gly96=) c.85C>T n.639C>T n.603C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19117034G>C | CA454143906 | TWIST1 | c.288C>G (p.Gly96=) c.85C>G n.639C>G n.603C>G | |
| 7 | g.19117034G= | CA1692250847 | TWIST1 | c.288C= (p.Gly96=) c.85C= n.639C= n.603C= | |
| 7 | g.19117034G>T | CA454143904 | TWIST1 | c.288C>A (p.Gly96=) c.85C>A n.639C>A n.603C>A | gnomAD v4 |
| 7 | g.19117036_19117041dup | CA2681939419 | TWIST1 | c.283_288dup (p.Gly96_Gly97insSerGly) c.80_85dup n.634_639dup n.598_603dup | gnomAD v4 |
| 7 | g.19117039_19117050dup | CA454143901 | TWIST1 | c.277_288dup (p.Gly96_Gly97insSerSerSerGly) c.74_85dup n.628_639dup n.592_603dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117035C>A | CA367015755 | TWIST1 | c.287G>T (p.Gly96Val) c.84G>T n.638G>T n.602G>T | gnomAD v4 |
| 7 | g.19117035C= | CA1692250850 | TWIST1 | c.287G= (p.Gly96=) c.84G= n.638G= n.602G= | |
| 7 | g.19117035C>G | CA4174517 | TWIST1 | c.287G>C (p.Gly96Ala) c.84G>C n.638G>C n.602G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19117035C>T | CA367015754 | TWIST1 | c.287G>A (p.Gly96Asp) c.84G>A n.638G>A n.602G>A | gnomAD v4 |
| 7 | g.19117036C>A | CA367015756 | TWIST1 | c.286G>T (p.Gly96Cys) c.83G>T n.637G>T n.601G>T | gnomAD v4 |
| 7 | g.19117036C= | CA1692250854 | TWIST1 | c.286G= (p.Gly96=) c.83G= n.637G= n.601G= | |
| 7 | g.19117036C>G | CA367015757 | TWIST1 | c.286G>C (p.Gly96Arg) c.83G>C n.637G>C n.601G>C | |
| 7 | g.19117036C>T | CA4174520 | TWIST1 | c.286G>A (p.Gly96Ser) c.83G>A n.637G>A n.601G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117036_19117039delinsCGCT | CA1692250856 | TWIST1 | c.283_286delinsAGCG (p.Ser95=) c.80_83delinsAGCG n.634_637delinsAGCG n.598_601delinsAGCG | |
| 7 | g.19117037G>A | CA454143917 | TWIST1 | c.285C>T (p.Ser95=) c.82C>T n.636C>T n.600C>T | gnomAD v4 COSMIC |
| 7 | g.19117037G>C | CA367015758 | TWIST1 | c.285C>G (p.Ser95Arg) c.82C>G n.636C>G n.600C>G | gnomAD v4 |
| 7 | g.19117037G= | CA1692250865 | TWIST1 | c.285C= (p.Ser95=) c.82C= n.636C= n.600C= | |
| 7 | g.19117037G>T | CA367015759 | TWIST1 | c.285C>A (p.Ser95Arg) c.82C>A n.636C>A n.600C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117045_19117047dup | CA4174519 | TWIST1 | c.283_285dup (p.Ser95_Gly96insSer) c.80_82dup n.634_636dup n.598_600dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117042_19117047dup | CA1692250867 | TWIST1 | c.280_285dup (p.Ser95_Gly96insSerSer) c.77_82dup n.631_636dup n.595_600dup | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117039_19117047dup | CA2681939420 | TWIST1 | c.277_285dup (p.Ser95_Gly96insSerSerSer) c.74_82dup n.628_636dup n.592_600dup | gnomAD v4 |
| 7 | g.19117045_19117047del | CA4174518 | TWIST1 | c.283_285del (p.Ser95del) c.80_82del n.634_636del n.598_600del | dbSNP ExAC gnomAD v4 |
| 7 | g.19117038C>A | CA367015760 | TWIST1 | c.284G>T (p.Ser95Ile) c.81G>T n.635G>T n.599G>T | gnomAD v4 |
| 7 | g.19117038C>G | CA367015761 | TWIST1 | c.284G>C (p.Ser95Thr) c.81G>C n.635G>C n.599G>C | |
| 7 | g.19117038C>T | CA367015762 | TWIST1 | c.284G>A (p.Ser95Asn) c.81G>A n.635G>A n.599G>A | gnomAD v4 |
| 7 | g.19117039del | CA2681939421 | TWIST1 | c.283del (p.Ser95AlafsTer30) c.80del n.634del n.598del | gnomAD v4 |
| 7 | g.19117039T>A | CA367015763 | TWIST1 | c.283A>T (p.Ser95Cys) c.80A>T n.634A>T n.598A>T | |
| 7 | g.19117039T>C | CA4174522 | TWIST1 | c.283A>G (p.Ser95Gly) c.80A>G n.634A>G n.598A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117039T>G | CA367015764 | TWIST1 | c.283A>C (p.Ser95Arg) c.80A>C n.634A>C n.598A>C | |
| 7 | g.19117039T= | CA1692250871 | TWIST1 | c.283A= (p.Ser95=) c.80A= n.634A= n.598A= | |
| 7 | g.19117039delinsCG | CA1139655408 | TWIST1 | c.283delinsCG (p.Ser95ArgfsTer?) c.80delinsCG n.634delinsCG n.598delinsCG | |
| 7 | g.19117039_19117040del | CA2578839879 | TWIST1 | c.282_283del (p.Ser94ArgfsTer?) c.79_80del n.633_634del n.597_598del | |
| 7 | g.19117039_19117057delinsTGCTGCTGCCGCCGCCGCC | CA1692250873 | TWIST1 | c.265_283delinsGGCGGCGGCGGCAGCAGCA (p.Gly89=) c.62_80delinsGGCGGCGGCGGCAGCAGCA n.616_634delinsGGCGGCGGCGGCAGCAGCA n.580_598delinsGGCGGCGGCGGCAGCAGCA | |
| 7 | g.19117039_19117066delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC | CA1692250874 | TWIST1 | c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA (p.Gly86=) c.53_80delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA n.607_634delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA n.571_598delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA | |
| 7 | g.19117040G>A | CA454143925 | TWIST1 | c.282C>T (p.Ser94=) c.79C>T n.633C>T n.597C>T | gnomAD v4 |
| 7 | g.19117040G>C | CA367015766 | TWIST1 | c.282C>G (p.Ser94Arg) c.79C>G n.633C>G n.597C>G | |
| 7 | g.19117040G>T | CA367015765 | TWIST1 | c.282C>A (p.Ser94Arg) c.79C>A n.633C>A n.597C>A | gnomAD v4 |
| 7 | g.19117042_19117059dup | CA573294107 | TWIST1 | c.265_282dup (p.Ser94_Ser95insGlyGlyGlyGlySerSer) c.62_79dup n.616_633dup n.580_597dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117042_19117059del | CA4174521 | TWIST1 | c.265_282del (p.Gly89_Ser94del) c.62_79del n.616_633del n.580_597del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117040_19117060dup | CA2681939424 | TWIST1 | c.262_282dup (p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer) c.59_79dup n.613_633dup n.577_597dup | gnomAD v4 |
| 7 | g.19117042_19117068del | CA573294108 | TWIST1 | c.256_282del (p.Gly86_Ser94del) c.53_79del n.607_633del n.571_597del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117042_19117077dup | CA2681939423 | TWIST1 | c.247_282dup (p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGlySerSer) c.44_79dup n.598_633dup n.562_597dup | gnomAD v4 |
| 7 | g.19117041C>A | CA367015767 | TWIST1 | c.281G>T (p.Ser94Ile) c.78G>T n.632G>T n.596G>T | dbSNP gnomAD v4 |
| 7 | g.19117041C= | CA1692250880 | TWIST1 | c.281G= (p.Ser94=) c.78G= n.632G= n.596G= | |
| 7 | g.19117041C>G | CA367015768 | TWIST1 | c.281G>C (p.Ser94Thr) c.78G>C n.632G>C n.596G>C | |
| 7 | g.19117041C>T | CA367015769 | TWIST1 | c.281G>A (p.Ser94Asn) c.78G>A n.632G>A n.596G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117041_19117042del | CA2681939425 | TWIST1 | c.280_281del (p.Ser94GlnfsTer?) c.77_78del n.631_632del n.595_596del | gnomAD v4 |
| 7 | g.19117042_19117051dup | CA2695207485 | TWIST1 | c.272_281dup (p.Ser94ArgfsTer?) c.69_78dup n.623_632dup n.587_596dup | |
| 7 | g.19117041_19117072del | CA2681939426 | TWIST1 | c.250_281del (p.Gly84GlnfsTer?) c.47_78del n.601_632del n.565_596del | gnomAD v4 |
| 7 | g.19117042T>A | CA367015770 | TWIST1 | c.280A>T (p.Ser94Cys) c.77A>T n.631A>T n.595A>T | |
| 7 | g.19117042T>C | CA367015771 | TWIST1 | c.280A>G (p.Ser94Gly) c.77A>G n.631A>G n.595A>G | gnomAD v4 |
| 7 | g.19117042T>G | CA367015772 | TWIST1 | c.280A>C (p.Ser94Arg) c.77A>C n.631A>C n.595A>C | |
| 7 | g.19117042T= | CA1692250884 | TWIST1 | c.280A= (p.Ser94=) c.77A= n.631A= n.595A= | |
| 7 | g.19117042_19117063delinsTGCTGCCGCCGCCGCCGCCCGC | CA1692250882 | TWIST1 | c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA (p.Ala87=) c.56_77delinsGCGGGCGGCGGCGGCGGCAGCA n.610_631delinsGCGGGCGGCGGCGGCGGCAGCA n.574_595delinsGCGGGCGGCGGCGGCGGCAGCA | |
| 7 | g.19117042_19117069delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC | CA1692250885 | TWIST1 | c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA (p.Gly85=) c.50_77delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA n.604_631delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA n.568_595delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA | |
| 7 | g.19117043G>A | CA454143773 | TWIST1 | c.279C>T (p.Ser93=) c.76C>T n.630C>T n.594C>T | gnomAD v4 |
| 7 | g.19117043G>C | CA367015773 | TWIST1 | c.279C>G (p.Ser93Arg) c.76C>G n.630C>G n.594C>G | |
| 7 | g.19117043G>T | CA367015774 | TWIST1 | c.279C>A (p.Ser93Arg) c.76C>A n.630C>A n.594C>A | gnomAD v4 |
| 7 | g.19117043_19117044insGCCGCCG | CA2695207486 | TWIST1 | c.279_280insGGCGGCC (p.Ser94GlyfsTer?) c.76_77insGGCGGCC n.630_631insGGCGGCC n.594_595insGGCGGCC | |
| 7 | g.19117044_19117045insCGC | CA2681939430 | TWIST1 | c.279_280insGGC (p.Ser93_Ser94insGly) c.76_77insGGC n.630_631insGGC n.594_595insGGC | gnomAD v4 |
| 7 | g.19117045_19117050dup | CA155466603 | TWIST1 | c.274_279dup (p.Ser93_Ser94insGlySer) c.71_76dup n.625_630dup n.589_594dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117045_19117050del | CA2681939427 | TWIST1 | c.274_279del (p.Gly92_Ser93del) c.71_76del n.625_630del n.589_594del | gnomAD v4 |
| 7 | g.19117045_19117053dup | CA1692250890 | TWIST1 | c.271_279dup (p.Ser93_Ser94insGlyGlySer) c.68_76dup n.622_630dup n.586_594dup | dbSNP gnomAD v4 |
| 7 | g.19117045_19117065del | CA573294067 | TWIST1 | c.259_279del (p.Ala87_Ser93del) c.56_76del n.610_630del n.574_594del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117045_19117071del | CA4174523 | TWIST1 | c.253_279del (p.Gly85_Ser93del) c.50_76del n.604_630del n.568_594del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117045_19117074dup | CA1099032775 | TWIST1 | c.250_279dup (p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGlySer) c.47_76dup n.601_630dup n.565_594dup | gnomAD v3 gnomAD v4 |
| 7 | g.19117044C>A | CA367015775 | TWIST1 | c.278G>T (p.Ser93Ile) c.75G>T n.629G>T n.593G>T | gnomAD v4 |
| 7 | g.19117044C= | CA1692250892 | TWIST1 | c.278G= (p.Ser93=) c.75G= n.629G= n.593G= | |
| 7 | g.19117044C>G | CA367015776 | TWIST1 | c.278G>C (p.Ser93Thr) c.75G>C n.629G>C n.593G>C | |
| 7 | g.19117044C>T | CA367015777 | TWIST1 | c.278G>A (p.Ser93Asn) c.75G>A n.629G>A n.593G>A | gnomAD v4 |
| 7 | g.19117045del | CA2578839880 | TWIST1 | c.277del (p.Ser93AlafsTer?) c.74del n.628del n.592del | |
| 7 | g.19117045T>A | CA367015779 | TWIST1 | c.277A>T (p.Ser93Cys) c.74A>T n.628A>T n.592A>T | |
| 7 | g.19117045T>C | CA4174525 | TWIST1 | c.277A>G (p.Ser93Gly) c.74A>G n.628A>G n.592A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117045T>G | CA367015778 | TWIST1 | c.277A>C (p.Ser93Arg) c.74A>C n.628A>C n.592A>C | |
| 7 | g.19117045T= | CA1692250899 | TWIST1 | c.277A= (p.Ser93=) c.74A= n.628A= n.592A= | |
| 7 | g.19117045dup | CA915944885 | TWIST1 | c.277dup (p.Ser93LysfsTer?) c.74dup n.628dup n.592dup | ClinVar dbSNP |
| 7 | g.19117045_19117054delinsTGCCGCCGCC | CA1692250898 | TWIST1 | c.268_277delinsGGCGGCGGCA (p.Gly90=) c.65_74delinsGGCGGCGGCA n.619_628delinsGGCGGCGGCA n.583_592delinsGGCGGCGGCA | |
| 7 | g.19117045_19117062del | CA645561702 | TWIST1 | c.260_277del (p.Ala87_Ser93delinsGly) c.57_74del n.611_628del n.575_592del | gnomAD v4 COSMIC |
| 7 | g.19117045_19117069delinsTGCCGCCGCCGCCGCCCGCGCCGCC | CA1692250896 | TWIST1 | c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA (p.Gly85=) c.50_74delinsGGCGGCGCGGGCGGCGGCGGCGGCA n.604_628delinsGGCGGCGCGGGCGGCGGCGGCGGCA n.568_592delinsGGCGGCGCGGGCGGCGGCGGCGGCA | |
| 7 | g.19117046G>A | CA454143790 | TWIST1 | c.276C>T (p.Gly92=) c.73C>T n.627C>T n.591C>T | gnomAD v4 |
| 7 | g.19117046G>C | CA454143789 | TWIST1 | c.276C>G (p.Gly92=) c.73C>G n.627C>G n.591C>G | |
| 7 | g.19117046G= | CA1692250918 | TWIST1 | c.276C= (p.Gly92=) c.73C= n.627C= n.591C= | |
| 7 | g.19117046G>T | CA454143788 | TWIST1 | c.276C>A (p.Gly92=) c.73C>A n.627C>A n.591C>A | gnomAD v4 |
| 7 | g.19117047_19117048insTGCCGCCGCCGCCGCCCGCGCCGC | CA2681939485 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer) c.73_74insGGCGCGGGCGGCGGCGGCGGCAGC n.627_628insGGCGCGGGCGGCGGCGGCGGCAGC n.591_592insGGCGCGGGCGGCGGCGGCGGCAGC | gnomAD v4 |
| 7 | g.19117049_19117050insGCCGCCGCCG | CA2695207487 | TWIST1 | c.276_277insGGCGGCCGGC (p.Ser93GlyfsTer?) c.73_74insGGCGGCCGGC n.627_628insGGCGGCCGGC n.591_592insGGCGGCCGGC | |
| 7 | g.19117057_19117058insCGCGCCGCCGCCGCCGCC | CA2681939498 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGC | gnomAD v4 |
| 7 | g.19117058_19117060dup | CA155466604 | TWIST1 | c.274_276dup (p.Gly92_Ser93insGly) c.71_73dup n.625_627dup n.589_591dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117055_19117060dup | CA573294068 | TWIST1 | c.271_276dup (p.Gly92_Ser93insGlyGly) c.68_73dup n.622_627dup n.586_591dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117052_19117060dup | CA1692250919 | TWIST1 | c.268_276dup (p.Gly92_Ser93insGlyGlyGly) c.65_73dup n.619_627dup n.583_591dup | dbSNP |
| 7 | g.19117049_19117060dup | CA1692250917 | TWIST1 | c.265_276dup (p.Gly92_Ser93insGlyGlyGlyGly) c.62_73dup n.616_627dup n.580_591dup | dbSNP |
| 7 | g.19117058_19117060del | CA4174526 | TWIST1 | c.274_276del (p.Gly92del) c.71_73del n.625_627del n.589_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117055_19117060del | CA1692250913 | TWIST1 | c.271_276del (p.Gly91_Gly92del) c.68_73del n.622_627del n.586_591del | dbSNP gnomAD v4 |
| 7 | g.19117052_19117060del | CA1692250922 | TWIST1 | c.268_276del (p.Gly90_Gly92del) c.65_73del n.619_627del n.583_591del | dbSNP gnomAD v4 |
| 7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC | CA1099032803 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC | CA1099032804 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117061_19117078dup | CA917957211 | TWIST1 | c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly) c.56_73dup n.610_627dup n.574_591dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117058_19117078dup | CA4174528 | TWIST1 | c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) c.53_73dup n.607_627dup n.571_591dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117055_19117078dup | CA454143792 | TWIST1 | c.253_276dup (p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly) c.50_73dup n.604_627dup n.568_591dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117061_19117078del | CA4174524 | TWIST1 | c.259_276del (p.Ala87_Gly92del) c.56_73del n.610_627del n.574_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19117058_19117078del | CA4174527 | TWIST1 | c.256_276del (p.Gly86_Gly92del) c.53_73del n.607_627del n.571_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117055_19117078del | CA1099032810 | TWIST1 | c.253_276del (p.Gly85_Gly92del) c.50_73del n.604_627del n.568_591del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117047C>A | CA367015780 | TWIST1 | c.275G>T (p.Gly92Val) c.72G>T n.626G>T n.590G>T | dbSNP gnomAD v4 |
| 7 | g.19117047C= | CA1692250939 | TWIST1 | c.275G= (p.Gly92=) c.72G= n.626G= n.590G= | |
| 7 | g.19117047C>G | CA367015781 | TWIST1 | c.275G>C (p.Gly92Ala) c.72G>C n.626G>C n.590G>C | |
| 7 | g.19117047C>T | CA367015782 | TWIST1 | c.275G>A (p.Gly92Asp) c.72G>A n.626G>A n.590G>A | gnomAD v4 |
| 7 | g.19117047_19117061del | CA2681939514 | TWIST1 | c.261_275del (p.Gly88_Gly92del) c.58_72del n.612_626del n.576_590del | gnomAD v4 |
| 7 | g.19117047_19117061dup | CA1692250937 | TWIST1 | c.261_275dup (p.Gly92_Ser93insGlyGlyGlyGlyGly) c.58_72dup n.612_626dup n.576_590dup | dbSNP |
| 7 | g.19117047_19117062delinsCCGCCGCCGCCGCCCG | CA1692250938 | TWIST1 | c.260_275delinsCGGGCGGCGGCGGCGG (p.Ala87=) c.57_72delinsCGGGCGGCGGCGGCGG n.611_626delinsCGGGCGGCGGCGGCGG n.575_590delinsCGGGCGGCGGCGGCGG | |
| 7 | g.19117051_19117063del | CA2695207488 | TWIST1 | c.263_275del (p.Gly88AlafsTer?) c.60_72del n.614_626del n.578_590del | |
| 7 | g.19117048C>A | CA367015783 | TWIST1 | c.274G>T (p.Gly92Cys) c.71G>T n.625G>T n.589G>T | ClinVar gnomAD v4 |
| 7 | g.19117048C= | CA1692250948 | TWIST1 | c.274G= (p.Gly92=) c.71G= n.625G= n.589G= | |
| 7 | g.19117048C>G | CA367015784 | TWIST1 | c.274G>C (p.Gly92Arg) c.71G>C n.625G>C n.589G>C | |
| 7 | g.19117048C>T | CA155466605 | TWIST1 | c.274G>A (p.Gly92Ser) c.71G>A n.625G>A n.589G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19117061_19117075dup | CA573294069 | TWIST1 | c.260_274dup (p.Gly91_Gly92insAlaGlyGlyGlyGly) c.57_71dup n.611_625dup n.575_589dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117061_19117075del | CA4174529 | TWIST1 | c.260_274del (p.Ala87_Gly91del) c.57_71del n.611_625del n.575_589del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117049G>A | CA454143800 | TWIST1 | c.273C>T (p.Gly91=) c.70C>T n.624C>T n.588C>T | gnomAD v4 |
| 7 | g.19117049G>C | CA454143798 | TWIST1 | c.273C>G (p.Gly91=) c.70C>G n.624C>G n.588C>G | |
| 7 | g.19117049G>T | CA454143801 | TWIST1 | c.273C>A (p.Gly91=) c.70C>A n.624C>A n.588C>A | gnomAD v4 |
| 7 | g.19117050C>A | CA367015786 | TWIST1 | c.272G>T (p.Gly91Val) c.69G>T n.623G>T n.587G>T | gnomAD v4 |
| 7 | g.19117050C>G | CA367015787 | TWIST1 | c.272G>C (p.Gly91Ala) c.69G>C n.623G>C n.587G>C | |
| 7 | g.19117050C>T | CA367015785 | TWIST1 | c.272G>A (p.Gly91Asp) c.69G>A n.623G>A n.587G>A | gnomAD v4 |
| 7 | g.19117050_19117062delinsCCGCCGCCGCCCG | CA1692250951 | TWIST1 | c.260_272delinsCGGGCGGCGGCGG (p.Ala87=) c.57_69delinsCGGGCGGCGGCGG n.611_623delinsCGGGCGGCGGCGG n.575_587delinsCGGGCGGCGGCGG | |
| 7 | g.19117051C>A | CA367015788 | TWIST1 | c.271G>T (p.Gly91Cys) c.68G>T n.622G>T n.586G>T | gnomAD v4 |
| 7 | g.19117051C= | CA1692250956 | TWIST1 | c.271G= (p.Gly91=) c.68G= n.622G= n.586G= | |
| 7 | g.19117051C>G | CA367015789 | TWIST1 | c.271G>C (p.Gly91Arg) c.68G>C n.622G>C n.586G>C | |
| 7 | g.19117051C>T | CA367015790 | TWIST1 | c.271G>A (p.Gly91Ser) c.68G>A n.622G>A n.586G>A | dbSNP gnomAD v4 |
| 7 | g.19117061_19117072dup | CA573294070 | TWIST1 | c.260_271dup (p.Gly90_Gly91insAlaGlyGlyGly) c.57_68dup n.611_622dup n.575_586dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117061_19117072del | CA4174530 | TWIST1 | c.260_271del (p.Ala87_Gly90del) c.57_68del n.611_622del n.575_586del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117052G>A | CA454143806 | TWIST1 | c.270C>T (p.Gly90=) c.67C>T n.621C>T n.585C>T | gnomAD v4 |
| 7 | g.19117052G>C | CA454143807 | TWIST1 | c.270C>G (p.Gly90=) c.67C>G n.621C>G n.585C>G | |
| 7 | g.19117052G= | CA1692250961 | TWIST1 | c.270C= (p.Gly90=) c.67C= n.621C= n.585C= | |
| 7 | g.19117052G>T | CA454143805 | TWIST1 | c.270C>A (p.Gly90=) c.67C>A n.621C>A n.585C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117053C>A | CA367015793 | TWIST1 | c.269G>T (p.Gly90Val) c.66G>T n.620G>T n.584G>T | gnomAD v4 |
| 7 | g.19117053C= | CA1692250965 | TWIST1 | c.269G= (p.Gly90=) c.66G= n.620G= n.584G= | |
| 7 | g.19117053C>G | CA367015792 | TWIST1 | c.269G>C (p.Gly90Ala) c.66G>C n.620G>C n.584G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117053C>T | CA367015791 | TWIST1 | c.269G>A (p.Gly90Asp) c.66G>A n.620G>A n.584G>A | gnomAD v4 |
| 7 | g.19117054C>A | CA367015794 | TWIST1 | c.268G>T (p.Gly90Cys) c.65G>T n.619G>T n.583G>T | gnomAD v4 |
| 7 | g.19117054C= | CA1692250970 | TWIST1 | c.268G= (p.Gly90=) c.65G= n.619G= n.583G= | |
| 7 | g.19117054C>G | CA367015795 | TWIST1 | c.268G>C (p.Gly90Arg) c.65G>C n.619G>C n.583G>C | |
| 7 | g.19117054C>T | CA367015796 | TWIST1 | c.268G>A (p.Gly90Ser) c.65G>A n.619G>A n.583G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117061_19117069dup | CA836362407 | TWIST1 | c.260_268dup (p.Gly89_Gly90insAlaGlyGly) c.57_65dup n.611_619dup n.575_583dup | dbSNP |
| 7 | g.19117061_19117069del | CA2681939558 | TWIST1 | c.260_268del (p.Ala87_Gly89del) c.57_65del n.611_619del n.575_583del | gnomAD v4 |
| 7 | g.19117055G>A | CA454143812 | TWIST1 | c.267C>T (p.Gly89=) c.64C>T n.618C>T n.582C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117055G>C | CA454143813 | TWIST1 | c.267C>G (p.Gly89=) c.64C>G n.618C>G n.582C>G | gnomAD v4 |
| 7 | g.19117055G= | CA1692250972 | TWIST1 | c.267C= (p.Gly89=) c.64C= n.618C= n.582C= | |
| 7 | g.19117055G>T | CA454143814 | TWIST1 | c.267C>A (p.Gly89=) c.64C>A n.618C>A n.582C>A | gnomAD v4 |
| 7 | g.19117056C>A | CA367015797 | TWIST1 | c.266G>T (p.Gly89Val) c.63G>T n.617G>T n.581G>T | gnomAD v4 |
| 7 | g.19117056C>G | CA367015798 | TWIST1 | c.266G>C (p.Gly89Ala) c.63G>C n.617G>C n.581G>C | gnomAD v4 |
| 7 | g.19117056C>T | CA367015799 | TWIST1 | c.266G>A (p.Gly89Asp) c.63G>A n.617G>A n.581G>A | gnomAD v4 |
| 7 | g.19117057C>A | CA367015800 | TWIST1 | c.265G>T (p.Gly89Cys) c.62G>T n.616G>T n.580G>T | gnomAD v4 |
| 7 | g.19117057C= | CA1692250975 | TWIST1 | c.265G= (p.Gly89=) c.62G= n.616G= n.580G= | |
| 7 | g.19117057C>G | CA367015802 | TWIST1 | c.265G>C (p.Gly89Arg) c.62G>C n.616G>C n.580G>C | |
| 7 | g.19117057C>T | CA367015801 | TWIST1 | c.265G>A (p.Gly89Ser) c.62G>A n.616G>A n.580G>A | gnomAD v2 gnomAD v4 |
| 7 | g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA | CA1692250974 | TWIST1 | c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG (p.Cys81=) c.38_62delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.592_616delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.556_580delinsTGTGGCGGCGGCGGCGGCGCGGGCG | |
| 7 | g.19117057_19117058insACA | CA836362427 | TWIST1 | c.264_265insTGT (p.Gly88_Gly89insCys) c.61_62insTGT n.615_616insTGT n.579_580insTGT | dbSNP |
| 7 | g.19117058del | CA2681939559 | TWIST1 | c.264del (p.Gly89AlafsTer?) c.61del n.615del n.579del | gnomAD v4 |
| 7 | g.19117058G>A | CA155466606 | TWIST1 | c.264C>T (p.Gly88=) c.61C>T n.615C>T n.579C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117058G>C | CA155466607 | TWIST1 | c.264C>G (p.Gly88=) c.61C>G n.615C>G n.579C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117058G= | CA1692250984 | TWIST1 | c.264C= (p.Gly88=) c.61C= n.615C= n.579C= | |
| 7 | g.19117058G>T | CA454143821 | TWIST1 | c.264C>A (p.Gly88=) c.61C>A n.615C>A n.579C>A | gnomAD v4 |
| 7 | g.19117064_19117087dup | CA573294071 | TWIST1 | c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly) c.38_61dup n.592_615dup n.556_579dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117064_19117087del | CA4174531 | TWIST1 | c.241_264del (p.Cys81_Gly88del) c.38_61del n.592_615del n.556_579del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117059C>A | CA367015805 | TWIST1 | c.263G>T (p.Gly88Val) c.60G>T n.614G>T n.578G>T | gnomAD v4 |
| 7 | g.19117059C= | CA1692250990 | TWIST1 | c.263G= (p.Gly88=) c.60G= n.614G= n.578G= | |
| 7 | g.19117059C>G | CA367015803 | TWIST1 | c.263G>C (p.Gly88Ala) c.60G>C n.614G>C n.578G>C | |
| 7 | g.19117059C>T | CA367015804 | TWIST1 | c.263G>A (p.Gly88Asp) c.60G>A n.614G>A n.578G>A | gnomAD v4 |
| 7 | g.19117061del | CA454143826 | TWIST1 | c.263del (p.Gly88AlafsTer?) c.60del n.614del n.578del | gnomAD v4 |
| 7 | g.19117059_19117060insTG | CA573294072 | TWIST1 | c.262_263insCA (p.Gly88AlafsTer?) c.59_60insCA n.613_614insCA n.577_578insCA | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117059_19117060insTGCTG | CA2681939560 | TWIST1 | c.262_263insCAGCA (p.Gly88AlafsTer?) c.59_60insCAGCA n.613_614insCAGCA n.577_578insCAGCA | gnomAD v4 |
| 7 | g.19117059_19117060insTGCTGCTG | CA573294073 | TWIST1 | c.262_263insCAGCAGCA (p.Gly88AlafsTer?) c.59_60insCAGCAGCA n.613_614insCAGCAGCA n.577_578insCAGCAGCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117060C>A | CA367015806 | TWIST1 | c.262G>T (p.Gly88Cys) c.59G>T n.613G>T n.577G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117060C= | CA1692250993 | TWIST1 | c.262G= (p.Gly88=) c.59G= n.613G= n.577G= | |
| 7 | g.19117060C>G | CA367015807 | TWIST1 | c.262G>C (p.Gly88Arg) c.59G>C n.613G>C n.577G>C | gnomAD v4 |
| 7 | g.19117060C>T | CA367015808 | TWIST1 | c.262G>A (p.Gly88Ser) c.59G>A n.613G>A n.577G>A | gnomAD v4 |
| 7 | g.19117061_19117063del | CA2578839881 | TWIST1 | c.260_262del (p.Ala87del) c.57_59del n.611_613del n.575_577del | gnomAD v4 |
| 7 | g.19117061C>A | CA454143834 | TWIST1 | c.261G>T (p.Ala87=) c.58G>T n.612G>T n.576G>T | gnomAD v4 |
| 7 | g.19117061C= | CA1692250997 | TWIST1 | c.261G= (p.Ala87=) c.58G= n.612G= n.576G= | |
| 7 | g.19117061C>G | CA454143829 | TWIST1 | c.261G>C (p.Ala87=) c.58G>C n.612G>C n.576G>C | |
| 7 | g.19117061C>T | CA454143832 | TWIST1 | c.261G>A (p.Ala87=) c.58G>A n.612G>A n.576G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19117062_19117065dup | CA2580615857 | TWIST1 | c.258_261dup (p.Gly88ArgfsTer?) c.55_58dup n.609_612dup n.573_576dup | ClinVar dbSNP |
| 7 | g.19117062G>A | CA367015809 | TWIST1 | c.260C>T (p.Ala87Val) c.57C>T n.611C>T n.575C>T | gnomAD v4 |
| 7 | g.19117062G>C | CA367015810 | TWIST1 | c.260C>G (p.Ala87Gly) c.57C>G n.611C>G n.575C>G | dbSNP |
| 7 | g.19117062G= | CA1692251003 | TWIST1 | c.260C= (p.Ala87=) c.57C= n.611C= n.575C= | |
| 7 | g.19117062G>T | CA367015811 | TWIST1 | c.260C>A (p.Ala87Glu) c.57C>A n.611C>A n.575C>A | gnomAD v4 |
| 7 | g.19117062_19117068delinsGCGCCGC | CA1692251002 | TWIST1 | c.254_260delinsGCGGCGC (p.Gly85=) c.51_57delinsGCGGCGC n.605_611delinsGCGGCGC n.569_575delinsGCGGCGC | |
| 7 | g.19117063C>A | CA367015812 | TWIST1 | c.259G>T (p.Ala87Ser) c.56G>T n.610G>T n.574G>T | gnomAD v4 |
| 7 | g.19117063C= | CA1692251016 | TWIST1 | c.259G= (p.Ala87=) c.56G= n.610G= n.574G= | |
| 7 | g.19117063C>G | CA367015813 | TWIST1 | c.259G>C (p.Ala87Pro) c.56G>C n.610G>C n.574G>C | |
| 7 | g.19117063C>T | CA367015814 | TWIST1 | c.259G>A (p.Ala87Thr) c.56G>A n.610G>A n.574G>A | gnomAD v4 |
| 7 | g.19117063_19117064insCGCCGCCGCCCGCGCC | CA573294074 | TWIST1 | c.259_260insGCGCGGGCGGCGGCGG (p.Ala87GlyfsTer?) c.56_57insGCGCGGGCGGCGGCGG n.610_611insGCGCGGGCGGCGGCGG n.574_575insGCGCGGGCGGCGGCGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117063dup | CA2681939561 | TWIST1 | c.259dup (p.Ala87GlyfsTer?) c.56dup n.610dup n.574dup | gnomAD v4 |
| 7 | g.19117076_19117078dup | CA155466608 | TWIST1 | c.257_259dup (p.Gly86_Ala87insGly) c.54_56dup n.608_610dup n.572_574dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117073_19117078dup | CA573294075 | TWIST1 | c.254_259dup (p.Gly86_Ala87insGlyGly) c.51_56dup n.605_610dup n.569_574dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117070_19117078dup | CA573294077 | TWIST1 | c.251_259dup (p.Gly86_Ala87insGlyGlyGly) c.48_56dup n.602_610dup n.566_574dup | dbSNP gnomAD v2 |
| 7 | g.19117076_19117078del | CA4174532 | TWIST1 | c.257_259del (p.Gly86del) c.54_56del n.608_610del n.572_574del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117073_19117078del | CA573294076 | TWIST1 | c.254_259del (p.Gly85_Gly86del) c.51_56del n.605_610del n.569_574del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117070_19117078del | CA2681939562 | TWIST1 | c.251_259del (p.Gly84_Gly86del) c.48_56del n.602_610del n.566_574del | gnomAD v4 |
| 7 | g.19117063_19117064insT | CA917957217 | TWIST1 | c.258_259insA (p.Ala87SerfsTer?) c.55_56insA n.609_610insA n.573_574insA | dbSNP |
| 7 | g.19117064G>A | CA454143839 | TWIST1 | c.258C>T (p.Gly86=) c.55C>T n.609C>T n.573C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117064G>C | CA454143845 | TWIST1 | c.258C>G (p.Gly86=) c.55C>G n.609C>G n.573C>G | gnomAD v4 |
| 7 | g.19117064G= | CA1692251019 | TWIST1 | c.258C= (p.Gly86=) c.55C= n.609C= n.573C= | |
| 7 | g.19117064G>T | CA454143841 | TWIST1 | c.258C>A (p.Gly86=) c.55C>A n.609C>A n.573C>A | gnomAD v4 |
| 7 | g.19117065C>A | CA367015817 | TWIST1 | c.257G>T (p.Gly86Val) c.54G>T n.608G>T n.572G>T | gnomAD v4 |
| 7 | g.19117065C= | CA1692251022 | TWIST1 | c.257G= (p.Gly86=) c.54G= n.608G= n.572G= | |
| 7 | g.19117065C>G | CA367015815 | TWIST1 | c.257G>C (p.Gly86Ala) c.54G>C n.608G>C n.572G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117065C>T | CA367015816 | TWIST1 | c.257G>A (p.Gly86Asp) c.54G>A n.608G>A n.572G>A | gnomAD v4 |
| 7 | g.19117066del | CA2578839882 | TWIST1 | c.257del (p.Gly86AlafsTer?) c.54del n.608del n.572del | gnomAD v4 |
| 7 | g.19117066C>A | CA367015818 | TWIST1 | c.256G>T (p.Gly86Cys) c.53G>T n.607G>T n.571G>T | gnomAD v4 |
| 7 | g.19117066C>G | CA367015819 | TWIST1 | c.256G>C (p.Gly86Arg) c.53G>C n.607G>C n.571G>C | |
| 7 | g.19117066C>T | CA367015820 | TWIST1 | c.256G>A (p.Gly86Ser) c.53G>A n.607G>A n.571G>A | gnomAD v4 |
| 7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCC | CA2681939563 | TWIST1 | c.256_257insCGGGCGGCGGCGGCGGCG (p.Gly85_Gly86insAlaGlyGlyGlyGlyGly) c.53_54insCGGGCGGCGGCGGCGGCG n.607_608insCGGGCGGCGGCGGCGGCG n.571_572insCGGGCGGCGGCGGCGGCG | gnomAD v4 |
| 7 | g.19117067G>A | CA454143850 | TWIST1 | c.255C>T (p.Gly85=) c.52C>T n.606C>T n.570C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117067G>C | CA454143851 | TWIST1 | c.255C>G (p.Gly85=) c.52C>G n.606C>G n.570C>G | |
| 7 | g.19117067G= | CA1692251025 | TWIST1 | c.255C= (p.Gly85=) c.52C= n.606C= n.570C= | |
| 7 | g.19117067G>T | CA454143848 | TWIST1 | c.255C>A (p.Gly85=) c.52C>A n.606C>A n.570C>A | gnomAD v4 |
| 7 | g.19117070_19117084del | CA2681939564 | TWIST1 | c.241_255del (p.Cys81_Gly85del) c.38_52del n.592_606del n.556_570del | gnomAD v4 |
| 7 | g.19117068C>A | CA367015821 | TWIST1 | c.254G>T (p.Gly85Val) c.51G>T n.605G>T n.569G>T | gnomAD v4 |
| 7 | g.19117068C>G | CA367015822 | TWIST1 | c.254G>C (p.Gly85Ala) c.51G>C n.605G>C n.569G>C | |
| 7 | g.19117068C>T | CA367015823 | TWIST1 | c.254G>A (p.Gly85Asp) c.51G>A n.605G>A n.569G>A | gnomAD v4 |
| 7 | g.19117069C>A | CA367015824 | TWIST1 | c.253G>T (p.Gly85Cys) c.50G>T n.604G>T n.568G>T | gnomAD v4 |
| 7 | g.19117069C= | CA1692251027 | TWIST1 | c.253G= (p.Gly85=) c.50G= n.604G= n.568G= | |
| 7 | g.19117069C>G | CA367015825 | TWIST1 | c.253G>C (p.Gly85Arg) c.50G>C n.604G>C n.568G>C | gnomAD v4 |
| 7 | g.19117069C>T | CA367015826 | TWIST1 | c.253G>A (p.Gly85Ser) c.50G>A n.604G>A n.568G>A | dbSNP gnomAD v3 gnomAD v4 |