| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116946C>A | CA254289 | TWIST1 | c.376G>T (p.Glu126Ter) c.173G>T n.727G>T n.691G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116946C= | CA1692250589 | TWIST1 | c.376G= (p.Glu126=) c.173G= n.727G= n.691G= | |
| 7 | g.19116946C>G | CA367015570 | TWIST1 | c.376G>C (p.Glu126Gln) c.173G>C n.727G>C n.691G>C | |
| 7 | g.19116946C>T | CA367015571 | TWIST1 | c.376G>A (p.Glu126Lys) c.173G>A n.727G>A n.691G>A | |
| 7 | g.19116947G>A | CA4174496 | TWIST1 | c.375C>T (p.Asn125=) c.172C>T n.726C>T n.690C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116947G>C | CA367015572 | TWIST1 | c.375C>G (p.Asn125Lys) c.172C>G n.726C>G n.690C>G | ClinVar |
| 7 | g.19116947G= | CA1692250594 | TWIST1 | c.375C= (p.Asn125=) c.172C= n.726C= n.690C= | |
| 7 | g.19116947G>T | CA367015573 | TWIST1 | c.375C>A (p.Asn125Lys) c.172C>A n.726C>A n.690C>A | |
| 7 | g.19116948T>A | CA367015575 | TWIST1 | c.374A>T (p.Asn125Ile) c.171A>T n.725A>T n.689A>T | |
| 7 | g.19116948T>C | CA367015576 | TWIST1 | c.374A>G (p.Asn125Ser) c.171A>G n.725A>G n.689A>G | gnomAD v4 |
| 7 | g.19116948T>G | CA367015574 | TWIST1 | c.374A>C (p.Asn125Thr) c.171A>C n.725A>C n.689A>C | |
| 7 | g.19116949T>A | CA367015577 | TWIST1 | c.373A>T (p.Asn125Tyr) c.170A>T n.724A>T n.688A>T | |
| 7 | g.19116949T>C | CA367015578 | TWIST1 | c.373A>G (p.Asn125Asp) c.170A>G n.724A>G n.688A>G | gnomAD v4 |
| 7 | g.19116949T>G | CA367015579 | TWIST1 | c.373A>C (p.Asn125His) c.170A>C n.724A>C n.688A>C | |
| 7 | g.19116950C>A | CA454143749 | TWIST1 | c.372G>T (p.Leu124=) c.169G>T n.723G>T n.687G>T | |
| 7 | g.19116950C= | CA1692250595 | TWIST1 | c.372G= (p.Leu124=) c.169G= n.723G= n.687G= | |
| 7 | g.19116950C>G | CA155466589 | TWIST1 | c.372G>C (p.Leu124=) c.169G>C n.723G>C n.687G>C | dbSNP |
| 7 | g.19116950C>T | CA454143750 | TWIST1 | c.372G>A (p.Leu124=) c.169G>A n.723G>A n.687G>A | dbSNP |
| 7 | g.19116951A>C | CA367015580 | TWIST1 | c.371T>G (p.Leu124Arg) c.168T>G n.722T>G n.686T>G | |
| 7 | g.19116951A>G | CA367015581 | TWIST1 | c.371T>C (p.Leu124Pro) c.168T>C n.722T>C n.686T>C | |
| 7 | g.19116951A>T | CA367015582 | TWIST1 | c.371T>A (p.Leu124Gln) c.168T>A n.722T>A n.686T>A | |
| 7 | g.19116952G>A | CA454143752 | TWIST1 | c.370C>T (p.Leu124=) c.167C>T n.721C>T n.685C>T | dbSNP gnomAD v4 |
| 7 | g.19116952G>C | CA367015583 | TWIST1 | c.370C>G (p.Leu124Val) c.167C>G n.721C>G n.685C>G | |
| 7 | g.19116952G= | CA1692250599 | TWIST1 | c.370C= (p.Leu124=) c.167C= n.721C= n.685C= | |
| 7 | g.19116952G>T | CA367015584 | TWIST1 | c.370C>A (p.Leu124Met) c.167C>A n.721C>A n.685C>A | |
| 7 | g.19116953C>A | CA454143753 | TWIST1 | c.369G>T (p.Ser123=) c.166G>T n.720G>T n.684G>T | gnomAD v4 |
| 7 | g.19116953C= | CA1692250603 | TWIST1 | c.369G= (p.Ser123=) c.166G= n.720G= n.684G= | |
| 7 | g.19116953C>G | CA4174497 | TWIST1 | c.369G>C (p.Ser123=) c.166G>C n.720G>C n.684G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116953C>T | CA155466590 | TWIST1 | c.369G>A (p.Ser123=) c.166G>A n.720G>A n.684G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19116954G>A | CA367015585 | TWIST1 | c.368C>T (p.Ser123Leu) c.165C>T n.719C>T n.683C>T | gnomAD v4 |
| 7 | g.19116954G>C | CA367015586 | TWIST1 | c.368C>G (p.Ser123Trp) c.165C>G n.719C>G n.683C>G | |
| 7 | g.19116954G= | CA1692250606 | TWIST1 | c.368C= (p.Ser123=) c.165C= n.719C= n.683C= | |
| 7 | g.19116954G>T | CA254287 | TWIST1 | c.368C>A (p.Ser123Ter) c.165C>A n.719C>A n.683C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116955A= | CA1692250610 | TWIST1 | c.367T= (p.Ser123=) c.164T= n.718T= n.682T= | |
| 7 | g.19116955A>C | CA367015587 | TWIST1 | c.367T>G (p.Ser123Ala) c.164T>G n.718T>G n.682T>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116955A>G | CA367015589 | TWIST1 | c.367T>C (p.Ser123Pro) c.164T>C n.718T>C n.682T>C | ClinVar dbSNP |
| 7 | g.19116955A>T | CA367015588 | TWIST1 | c.367T>A (p.Ser123Thr) c.164T>A n.718T>A n.682T>A | |
| 7 | g.19116956C>A | CA367015590 | TWIST1 | c.366G>T (p.Gln122His) c.163G>T n.717G>T n.681G>T | |
| 7 | g.19116956C>G | CA367015591 | TWIST1 | c.366G>C (p.Gln122His) c.163G>C n.717G>C n.681G>C | |
| 7 | g.19116956C>T | CA454143754 | TWIST1 | c.366G>A (p.Gln122=) c.163G>A n.717G>A n.681G>A | |
| 7 | g.19116957T>A | CA367015592 | TWIST1 | c.365A>T (p.Gln122Leu) c.162A>T n.716A>T n.680A>T | |
| 7 | g.19116957T>C | CA367015593 | TWIST1 | c.365A>G (p.Gln122Arg) c.162A>G n.716A>G n.680A>G | ClinVar dbSNP |
| 7 | g.19116957T>G | CA367015594 | TWIST1 | c.365A>C (p.Gln122Pro) c.162A>C n.716A>C n.680A>C | |
| 7 | g.19116958G>A | CA367015595 | TWIST1 | c.364C>T (p.Gln122Ter) c.161C>T n.715C>T n.679C>T | |
| 7 | g.19116958G>C | CA367015596 | TWIST1 | c.364C>G (p.Gln122Glu) c.161C>G n.715C>G n.679C>G | |
| 7 | g.19116958G= | CA1692250613 | TWIST1 | c.364C= (p.Gln122=) c.161C= n.715C= n.679C= | |
| 7 | g.19116958G>T | CA367015597 | TWIST1 | c.364C>A (p.Gln122Lys) c.161C>A n.715C>A n.679C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116958_19116974del | CA2695207476 | TWIST1 | c.348_364del (p.Glu117ValfsTer?) c.145_161del n.699_715del n.663_679del | |
| 7 | g.19116959G>A | CA454143757 | TWIST1 | c.363C>T (p.Thr121=) c.160C>T n.714C>T n.678C>T | |
| 7 | g.19116959G>C | CA4174498 | TWIST1 | c.363C>G (p.Thr121=) c.160C>G n.714C>G n.678C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |