| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |