| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.19116788_19116795dup | CA2573142036 | TWIST1 | c.530_537dup (p.His180MetfsTer?) c.327_334dup c.133_140dup n.881_888dup n.845_852dup | ClinVar dbSNP |
| 7 | g.19116789A>C | CA367015221 | TWIST1 | c.533T>G (p.Val178Gly) c.330T>G c.136T>G n.884T>G n.848T>G | |
| 7 | g.19116789A>G | CA367015222 | TWIST1 | c.533T>C (p.Val178Ala) c.330T>C c.136T>C n.884T>C n.848T>C | |
| 7 | g.19116789A>T | CA367015223 | TWIST1 | c.533T>A (p.Val178Glu) c.330T>A c.136T>A n.884T>A n.848T>A | |
| 7 | g.19116790C>A | CA367015224 | TWIST1 | c.532G>T (p.Val178Leu) c.329G>T c.135G>T n.883G>T n.847G>T | COSMIC |
| 7 | g.19116790C= | CA1692250261 | TWIST1 | c.532G= (p.Val178=) c.329G= c.135G= n.883G= n.847G= | |
| 7 | g.19116790C>G | CA367015225 | TWIST1 | c.532G>C (p.Val178Leu) c.329G>C c.135G>C n.883G>C n.847G>C | |
| 7 | g.19116790C>T | CA367015226 | TWIST1 | c.532G>A (p.Val178Met) c.329G>A c.135G>A n.883G>A n.847G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116791A= | CA1692250265 | TWIST1 | c.531T= (p.Tyr177=) c.328T= c.134T= n.882T= n.846T= | |
| 7 | g.19116791A>C | CA367015227 | TWIST1 | c.531T>G (p.Tyr177Ter) c.328T>G c.134T>G n.882T>G n.846T>G | |
| 7 | g.19116791A>G | CA155466576 | TWIST1 | c.531T>C (p.Tyr177=) c.328T>C c.134T>C n.882T>C n.846T>C | dbSNP gnomAD v4 |
| 7 | g.19116791A>T | CA367015228 | TWIST1 | c.531T>A (p.Tyr177Ter) c.328T>A c.134T>A n.882T>A n.846T>A | ClinVar |
| 7 | g.19116792T>A | CA367015229 | TWIST1 | c.530A>T (p.Tyr177Phe) c.327A>T c.133A>T n.881A>T n.845A>T | dbSNP gnomAD v4 |
| 7 | g.19116792T>C | CA367015230 | TWIST1 | c.530A>G (p.Tyr177Cys) c.327A>G c.133A>G n.881A>G n.845A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116792T>G | CA367015231 | TWIST1 | c.530A>C (p.Tyr177Ser) c.327A>C c.133A>C n.881A>C n.845A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116792T= | CA1692250267 | TWIST1 | c.530A= (p.Tyr177=) c.327A= c.133A= n.881A= n.845A= | |
| 7 | g.19116793A>C | CA367015234 | TWIST1 | c.529T>G (p.Tyr177Asp) c.326T>G c.132T>G n.880T>G n.844T>G | |
| 7 | g.19116793A>G | CA367015232 | TWIST1 | c.529T>C (p.Tyr177His) c.326T>C c.132T>C n.880T>C n.844T>C | |
| 7 | g.19116793A>T | CA367015233 | TWIST1 | c.529T>A (p.Tyr177Asn) c.326T>A c.132T>A n.880T>A n.844T>A | |
| 7 | g.19116794G>A | CA454143418 | TWIST1 | c.528C>T (p.Ser176=) c.325C>T c.131C>T n.879C>T n.843C>T | gnomAD v4 COSMIC |
| 7 | g.19116794G>C | CA367015235 | TWIST1 | c.528C>G (p.Ser176Arg) c.325C>G c.131C>G n.879C>G n.843C>G | ClinVar |
| 7 | g.19116794G>T | CA367015236 | TWIST1 | c.528C>A (p.Ser176Arg) c.325C>A c.131C>A n.879C>A n.843C>A | |
| 7 | g.19116795C>A | CA367015237 | TWIST1 | c.527G>T (p.Ser176Ile) c.324G>T c.130G>T n.878G>T n.842G>T | |
| 7 | g.19116795C= | CA1692250270 | TWIST1 | c.527G= (p.Ser176=) c.324G= c.130G= n.878G= n.842G= | |
| 7 | g.19116795C>G | CA367015238 | TWIST1 | c.527G>C (p.Ser176Thr) c.324G>C c.130G>C n.878G>C n.842G>C | |
| 7 | g.19116795C>T | CA367015239 | TWIST1 | c.527G>A (p.Ser176Asn) c.324G>A c.130G>A n.878G>A n.842G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116796T>A | CA367015240 | TWIST1 | c.526A>T (p.Ser176Cys) c.323A>T c.129A>T n.877A>T n.841A>T | |
| 7 | g.19116796T>C | CA367015241 | TWIST1 | c.526A>G (p.Ser176Gly) c.323A>G c.129A>G n.877A>G n.841A>G | gnomAD v4 COSMIC |
| 7 | g.19116796T>G | CA367015242 | TWIST1 | c.526A>C (p.Ser176Arg) c.323A>C c.129A>C n.877A>C n.841A>C | |
| 7 | g.19116797G>A | CA454143421 | TWIST1 | c.525C>T (p.Cys175=) c.322C>T c.128C>T n.876C>T n.840C>T | dbSNP gnomAD v4 |
| 7 | g.19116797G>C | CA367015243 | TWIST1 | c.525C>G (p.Cys175Trp) c.322C>G c.128C>G n.876C>G n.840C>G | |
| 7 | g.19116797G= | CA1692250275 | TWIST1 | c.525C= (p.Cys175=) c.322C= c.128C= n.876C= n.840C= | |
| 7 | g.19116797G>T | CA367015244 | TWIST1 | c.525C>A (p.Cys175Ter) c.322C>A c.128C>A n.876C>A n.840C>A | |
| 7 | g.19116798C>A | CA367015245 | TWIST1 | c.524G>T (p.Cys175Phe) c.321G>T c.127G>T n.875G>T n.839G>T | |
| 7 | g.19116798C>G | CA367015246 | TWIST1 | c.524G>C (p.Cys175Ser) c.321G>C c.127G>C n.875G>C n.839G>C | |
| 7 | g.19116798C>T | CA367015247 | TWIST1 | c.524G>A (p.Cys175Tyr) c.321G>A c.127G>A n.875G>A n.839G>A | |
| 7 | g.19116799A>C | CA367015250 | TWIST1 | c.523T>G (p.Cys175Gly) c.320T>G c.126T>G n.874T>G n.838T>G | |
| 7 | g.19116799A>G | CA367015249 | TWIST1 | c.523T>C (p.Cys175Arg) c.320T>C c.126T>C n.874T>C n.838T>C | |
| 7 | g.19116799A>T | CA367015248 | TWIST1 | c.523T>A (p.Cys175Ser) c.320T>A c.126T>A n.874T>A n.838T>A | |
| 7 | g.19116800G>A | CA454143422 | TWIST1 | c.522C>T (p.Ser174=) c.319C>T c.125C>T n.873C>T n.837C>T | |
| 7 | g.19116800G>C | CA367015252 | TWIST1 | c.522C>G (p.Ser174Arg) c.319C>G c.125C>G n.873C>G n.837C>G | |
| 7 | g.19116800G>T | CA367015251 | TWIST1 | c.522C>A (p.Ser174Arg) c.319C>A c.125C>A n.873C>A n.837C>A | |
| 7 | g.19116801C>A | CA367015254 | TWIST1 | c.521G>T (p.Ser174Ile) c.318G>T c.124G>T n.872G>T n.836G>T | |
| 7 | g.19116801C>G | CA367015253 | TWIST1 | c.521G>C (p.Ser174Thr) c.318G>C c.124G>C n.872G>C n.836G>C | |
| 7 | g.19116801C>T | CA367015255 | TWIST1 | c.521G>A (p.Ser174Asn) c.318G>A c.124G>A n.872G>A n.836G>A | |
| 7 | g.19116802T>A | CA367015256 | TWIST1 | c.520A>T (p.Ser174Cys) c.317A>T c.123A>T n.871A>T n.835A>T | |
| 7 | g.19116802T>C | CA367015258 | TWIST1 | c.520A>G (p.Ser174Gly) c.317A>G c.123A>G n.871A>G n.835A>G | dbSNP gnomAD v4 |
| 7 | g.19116802T>G | CA367015257 | TWIST1 | c.520A>C (p.Ser174Arg) c.317A>C c.123A>C n.871A>C n.835A>C | |
| 7 | g.19116802T= | CA1692250278 | TWIST1 | c.520A= (p.Ser174=) c.317A= c.123A= n.871A= n.835A= | |
| 7 | g.19116803T>A | CA454143424 | TWIST1 | c.519A>T (p.Ala173=) c.316A>T c.122A>T n.870A>T n.834A>T | |
| 7 | g.19116803T>C | CA454143425 | TWIST1 | c.519A>G (p.Ala173=) c.316A>G c.122A>G n.870A>G n.834A>G | |
| 7 | g.19116803T>G | CA155466577 | TWIST1 | c.519A>C (p.Ala173=) c.316A>C c.122A>C n.870A>C n.834A>C | dbSNP |
| 7 | g.19116803T= | CA1692250282 | TWIST1 | c.519A= (p.Ala173=) c.316A= c.122A= n.870A= n.834A= | |
| 7 | g.19116804del | CA2573142037 | TWIST1 | c.518del (p.Ala173GlufsTer?) c.315del c.121del n.869del n.833del | ClinVar dbSNP |
| 7 | g.19116804G>A | CA367015261 | TWIST1 | c.518C>T (p.Ala173Val) c.315C>T c.121C>T n.869C>T n.833C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116804G>C | CA367015259 | TWIST1 | c.518C>G (p.Ala173Gly) c.315C>G c.121C>G n.869C>G n.833C>G | |
| 7 | g.19116804G= | CA1692250284 | TWIST1 | c.518C= (p.Ala173=) c.315C= c.121C= n.869C= n.833C= | |
| 7 | g.19116804G>T | CA367015260 | TWIST1 | c.518C>A (p.Ala173Glu) c.315C>A c.121C>A n.869C>A n.833C>A | |
| 7 | g.19116805C>A | CA367015262 | TWIST1 | c.517G>T (p.Ala173Ser) c.314G>T c.120G>T n.868G>T n.832G>T | |
| 7 | g.19116805C= | CA1692250287 | TWIST1 | c.517G= (p.Ala173=) c.314G= c.120G= n.868G= n.832G= | |
| 7 | g.19116805C>G | CA367015263 | TWIST1 | c.517G>C (p.Ala173Pro) c.314G>C c.120G>C n.868G>C n.832G>C | |
| 7 | g.19116805C>T | CA155466578 | TWIST1 | c.517G>A (p.Ala173Thr) c.314G>A c.120G>A n.868G>A n.832G>A | dbSNP gnomAD v4 |
| 7 | g.19116806C>A | CA367015264 | TWIST1 | c.516G>T (p.Met172Ile) c.313G>T c.119G>T n.867G>T n.831G>T | |
| 7 | g.19116806C= | CA1692250291 | TWIST1 | c.516G= (p.Met172=) c.313G= c.119G= n.867G= n.831G= | |
| 7 | g.19116806C>G | CA367015265 | TWIST1 | c.516G>C (p.Met172Ile) c.313G>C c.119G>C n.867G>C n.831G>C | |
| 7 | g.19116806C>T | CA4174469 | TWIST1 | c.516G>A (p.Met172Ile) c.313G>A c.119G>A n.867G>A n.831G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116807A>C | CA367015266 | TWIST1 | c.515T>G (p.Met172Arg) c.312T>G c.118T>G n.866T>G n.830T>G | |
| 7 | g.19116807A>G | CA367015267 | TWIST1 | c.515T>C (p.Met172Thr) c.312T>C c.118T>C n.866T>C n.830T>C | |
| 7 | g.19116807A>T | CA367015268 | TWIST1 | c.515T>A (p.Met172Lys) c.312T>A c.118T>A n.866T>A n.830T>A | |
| 7 | g.19116808T>A | CA367015269 | TWIST1 | c.514A>T (p.Met172Leu) c.311A>T c.117A>T n.865A>T n.829A>T | |
| 7 | g.19116808T>C | CA367015271 | TWIST1 | c.514A>G (p.Met172Val) c.311A>G c.117A>G n.865A>G n.829A>G | |
| 7 | g.19116808T>G | CA367015270 | TWIST1 | c.514A>C (p.Met172Leu) c.311A>C c.117A>C n.865A>C n.829A>C | |
| 7 | g.19116809C>A | CA367015272 | TWIST1 | c.513G>T (p.Lys171Asn) c.310G>T c.116G>T n.864G>T n.828G>T | |
| 7 | g.19116809C= | CA1692250293 | TWIST1 | c.513G= (p.Lys171=) c.310G= c.116G= n.864G= n.828G= | |
| 7 | g.19116809C>G | CA367015273 | TWIST1 | c.513G>C (p.Lys171Asn) c.310G>C c.116G>C n.864G>C n.828G>C | COSMIC |
| 7 | g.19116809C>T | CA454143427 | TWIST1 | c.513G>A (p.Lys171=) c.310G>A c.116G>A n.864G>A n.828G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116810T>A | CA367015274 | TWIST1 | c.512A>T (p.Lys171Met) c.309A>T c.115A>T n.863A>T n.827A>T | |
| 7 | g.19116810T>C | CA4174470 | TWIST1 | c.512A>G (p.Lys171Arg) c.309A>G c.115A>G n.863A>G n.827A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116810T>G | CA367015275 | TWIST1 | c.512A>C (p.Lys171Thr) c.309A>C c.115A>C n.863A>C n.827A>C | |
| 7 | g.19116810T= | CA1692250296 | TWIST1 | c.512A= (p.Lys171=) c.309A= c.115A= n.863A= n.827A= | |
| 7 | g.19116811T>A | CA367015276 | TWIST1 | c.511A>T (p.Lys171Ter) c.308A>T c.114A>T n.862A>T n.826A>T | |
| 7 | g.19116811T>C | CA367015277 | TWIST1 | c.511A>G (p.Lys171Glu) c.308A>G c.114A>G n.862A>G n.826A>G | |
| 7 | g.19116811T>G | CA367015278 | TWIST1 | c.511A>C (p.Lys171Gln) c.308A>C c.114A>C n.862A>C n.826A>C | |
| 7 | g.19116812G>A | CA155466579 | TWIST1 | c.510C>T (p.Ser170=) c.307C>T c.113C>T n.861C>T n.825C>T | dbSNP |
| 7 | g.19116812G>C | CA454143428 | TWIST1 | c.510C>G (p.Ser170=) c.307C>G c.113C>G n.861C>G n.825C>G | |
| 7 | g.19116812G= | CA1692250299 | TWIST1 | c.510C= (p.Ser170=) c.307C= c.113C= n.861C= n.825C= | |
| 7 | g.19116812G>T | CA454143430 | TWIST1 | c.510C>A (p.Ser170=) c.307C>A c.113C>A n.861C>A n.825C>A | |
| 7 | g.19116813dup | CA915940498 | TWIST1 | c.510dup (p.Lys171GlnfsTer?) c.307dup c.113dup n.861dup n.825dup | ClinVar dbSNP |
| 7 | g.19116813G>A | CA367015279 | TWIST1 | c.509C>T (p.Ser170Phe) c.306C>T c.112C>T n.860C>T n.824C>T | |
| 7 | g.19116813G>C | CA367015280 | TWIST1 | c.509C>G (p.Ser170Cys) c.306C>G c.112C>G n.860C>G n.824C>G | COSMIC |
| 7 | g.19116813G= | CA1692250304 | TWIST1 | c.509C= (p.Ser170=) c.306C= c.112C= n.860C= n.824C= | |
| 7 | g.19116813G>T | CA155466580 | TWIST1 | c.509C>A (p.Ser170Tyr) c.306C>A c.112C>A n.860C>A n.824C>A | dbSNP |
| 7 | g.19116814A= | CA1692250311 | TWIST1 | c.508T= (p.Ser170=) c.305T= c.111T= n.859T= n.823T= | |
| 7 | g.19116814A>C | CA367015281 | TWIST1 | c.508T>G (p.Ser170Ala) c.305T>G c.111T>G n.859T>G n.823T>G | |
| 7 | g.19116814A>G | CA367015282 | TWIST1 | c.508T>C (p.Ser170Pro) c.305T>C c.111T>C n.859T>C n.823T>C | |
| 7 | g.19116814A>T | CA155466581 | TWIST1 | c.508T>A (p.Ser170Thr) c.305T>A c.111T>A n.859T>A n.823T>A | ClinVar dbSNP |
| 7 | g.19116814dup | CA1692250309 | TWIST1 | c.508dup (p.Ser170PhefsTer?) c.305dup c.111dup n.859dup n.823dup | ClinVar dbSNP |
| 7 | g.19116815G>A | CA454143432 | TWIST1 | c.507C>T (p.Asp169=) c.304C>T c.110C>T n.858C>T n.822C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116815G>C | CA367015283 | TWIST1 | c.507C>G (p.Asp169Glu) c.304C>G c.110C>G n.858C>G n.822C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116815G= | CA1692250317 | TWIST1 | c.507C= (p.Asp169=) c.304C= c.110C= n.858C= n.822C= | |
| 7 | g.19116815G>T | CA367015284 | TWIST1 | c.507C>A (p.Asp169Glu) c.304C>A c.110C>A n.858C>A n.822C>A | |
| 7 | g.19116816T>A | CA367015285 | TWIST1 | c.506A>T (p.Asp169Val) c.303A>T c.109A>T n.857A>T n.821A>T | |
| 7 | g.19116816T>C | CA367015286 | TWIST1 | c.506A>G (p.Asp169Gly) c.303A>G c.109A>G n.857A>G n.821A>G | |
| 7 | g.19116816T>G | CA367015287 | TWIST1 | c.506A>C (p.Asp169Ala) c.303A>C c.109A>C n.857A>C n.821A>C | |
| 7 | g.19116817C>A | CA367015288 | TWIST1 | c.505G>T (p.Asp169Tyr) c.302G>T c.108G>T n.856G>T n.820G>T | gnomAD v4 |
| 7 | g.19116817C>G | CA367015289 | TWIST1 | c.505G>C (p.Asp169His) c.302G>C c.108G>C n.856G>C n.820G>C | |
| 7 | g.19116817C>T | CA367015290 | TWIST1 | c.505G>A (p.Asp169Asn) c.302G>A c.108G>A n.856G>A n.820G>A | gnomAD v4 |
| 7 | g.19116818C>A | CA454143434 | TWIST1 | c.504G>T (p.Leu168=) c.301G>T c.107G>T n.855G>T n.819G>T | gnomAD v4 |
| 7 | g.19116818C>G | CA454143436 | TWIST1 | c.504G>C (p.Leu168=) c.301G>C c.107G>C n.855G>C n.819G>C | |
| 7 | g.19116818C>T | CA454143437 | TWIST1 | c.504G>A (p.Leu168=) c.301G>A c.107G>A n.855G>A n.819G>A | |
| 7 | g.19116819A>C | CA367015293 | TWIST1 | c.503T>G (p.Leu168Arg) c.300T>G c.106T>G n.854T>G n.818T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116819A>G | CA367015292 | TWIST1 | c.503T>C (p.Leu168Pro) c.300T>C c.106T>C n.854T>C n.818T>C | |
| 7 | g.19116819A>T | CA367015291 | TWIST1 | c.503T>A (p.Leu168Gln) c.300T>A c.106T>A n.854T>A n.818T>A | |
| 7 | g.19116820G>A | CA454143439 | TWIST1 | c.502C>T (p.Leu168=) c.299C>T c.105C>T n.853C>T n.817C>T | |
| 7 | g.19116820G>C | CA367015294 | TWIST1 | c.502C>G (p.Leu168Val) c.299C>G c.105C>G n.853C>G n.817C>G | |
| 7 | g.19116820G= | CA1692250319 | TWIST1 | c.502C= (p.Leu168=) c.299C= c.105C= n.853C= n.817C= | |
| 7 | g.19116820G>T | CA155466582 | TWIST1 | c.502C>A (p.Leu168Met) c.299C>A c.105C>A n.853C>A n.817C>A | dbSNP |
| 7 | g.19116821C>A | CA367015295 | TWIST1 | c.501G>T (p.Glu167Asp) c.298G>T c.104G>T n.852G>T n.816G>T | |
| 7 | g.19116821C>G | CA367015296 | TWIST1 | c.501G>C (p.Glu167Asp) c.298G>C c.104G>C n.852G>C n.816G>C | |
| 7 | g.19116821C>T | CA454143440 | TWIST1 | c.501G>A (p.Glu167=) c.298G>A c.104G>A n.852G>A n.816G>A | |
| 7 | g.19116822T>A | CA367015297 | TWIST1 | c.500A>T (p.Glu167Val) c.297A>T c.103A>T n.851A>T n.815A>T | |
| 7 | g.19116822T>C | CA367015298 | TWIST1 | c.500A>G (p.Glu167Gly) c.297A>G c.103A>G n.851A>G n.815A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116822T>G | CA367015299 | TWIST1 | c.500A>C (p.Glu167Ala) c.297A>C c.103A>C n.851A>C n.815A>C | |
| 7 | g.19116822T= | CA1692250325 | TWIST1 | c.500A= (p.Glu167=) c.297A= c.103A= n.851A= n.815A= | |
| 7 | g.19116823C>A | CA367015300 | TWIST1 | c.499G>T (p.Glu167Ter) c.296G>T c.102G>T n.850G>T n.814G>T | dbSNP |
| 7 | g.19116823C= | CA1692250327 | TWIST1 | c.499G= (p.Glu167=) c.296G= c.102G= n.850G= n.814G= | |
| 7 | g.19116823C>G | CA367015301 | TWIST1 | c.499G>C (p.Glu167Gln) c.296G>C c.102G>C n.850G>C n.814G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116823C>T | CA367015302 | TWIST1 | c.499G>A (p.Glu167Lys) c.296G>A c.102G>A n.850G>A n.814G>A | dbSNP gnomAD v2 |
| 7 | g.19116824G>A | CA4174471 | TWIST1 | c.498C>T (p.Asp166=) c.295C>T c.101C>T n.849C>T n.813C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116824G>C | CA367015303 | TWIST1 | c.498C>G (p.Asp166Glu) c.295C>G c.101C>G n.849C>G n.813C>G | dbSNP |
| 7 | g.19116824G= | CA1692250331 | TWIST1 | c.498C= (p.Asp166=) c.295C= c.101C= n.849C= n.813C= | |
| 7 | g.19116824G>T | CA367015304 | TWIST1 | c.498C>A (p.Asp166Glu) c.295C>A c.101C>A n.849C>A n.813C>A | |
| 7 | g.19116825T>A | CA367015306 | TWIST1 | c.497A>T (p.Asp166Val) c.294A>T c.100A>T n.848A>T n.812A>T | |
| 7 | g.19116825T>C | CA367015307 | TWIST1 | c.497A>G (p.Asp166Gly) c.294A>G c.100A>G n.848A>G n.812A>G | |
| 7 | g.19116825T>G | CA367015305 | TWIST1 | c.497A>C (p.Asp166Ala) c.294A>C c.100A>C n.848A>C n.812A>C | |
| 7 | g.19116826C>A | CA367015309 | TWIST1 | c.496G>T (p.Asp166Tyr) c.293G>T c.99G>T n.847G>T n.811G>T | |
| 7 | g.19116826C= | CA1692250334 | TWIST1 | c.496G= (p.Asp166=) c.293G= c.99G= n.847G= n.811G= | |
| 7 | g.19116826C>G | CA367015308 | TWIST1 | c.496G>C (p.Asp166His) c.293G>C c.99G>C n.847G>C n.811G>C | |
| 7 | g.19116826C>T | CA4174472 | TWIST1 | c.496G>A (p.Asp166Asn) c.293G>A c.99G>A n.847G>A n.811G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116827G>A | CA454143444 | TWIST1 | c.495C>T (p.Ser165=) c.292C>T c.98C>T n.846C>T n.810C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116827G>C | CA367015310 | TWIST1 | c.495C>G (p.Ser165Arg) c.292C>G c.98C>G n.846C>G n.810C>G | |
| 7 | g.19116827G= | CA1692250336 | TWIST1 | c.495C= (p.Ser165=) c.292C= c.98C= n.846C= n.810C= | |
| 7 | g.19116827G>T | CA367015311 | TWIST1 | c.495C>A (p.Ser165Arg) c.292C>A c.98C>A n.846C>A n.810C>A | gnomAD v4 COSMIC |
| 7 | g.19116828C>A | CA367015312 | TWIST1 | c.494G>T (p.Ser165Ile) c.291G>T c.97G>T n.845G>T n.809G>T | |
| 7 | g.19116828C= | CA1692250339 | TWIST1 | c.494G= (p.Ser165=) c.291G= c.97G= n.845G= n.809G= | |
| 7 | g.19116828C>G | CA367015313 | TWIST1 | c.494G>C (p.Ser165Thr) c.291G>C c.97G>C n.845G>C n.809G>C | COSMIC |
| 7 | g.19116828C>T | CA4174473 | TWIST1 | c.494G>A (p.Ser165Asn) c.291G>A c.97G>A n.845G>A n.809G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116829T>A | CA367015314 | TWIST1 | c.493A>T (p.Ser165Cys) c.290A>T c.96A>T n.844A>T n.808A>T | |
| 7 | g.19116829T>C | CA367015315 | TWIST1 | c.493A>G (p.Ser165Gly) c.290A>G c.96A>G n.844A>G n.808A>G | |
| 7 | g.19116829T>G | CA367015316 | TWIST1 | c.493A>C (p.Ser165Arg) c.290A>C c.96A>C n.844A>C n.808A>C | |
| 7 | g.19116830C>A | CA367015317 | TWIST1 | c.492G>T (p.Gln164His) c.289G>T c.95G>T n.843G>T n.807G>T | |
| 7 | g.19116830C>G | CA367015318 | TWIST1 | c.492G>C (p.Gln164His) c.289G>C c.95G>C n.843G>C n.807G>C | |
| 7 | g.19116830C>T | CA454143447 | TWIST1 | c.492G>A (p.Gln164=) c.289G>A c.95G>A n.843G>A n.807G>A | |
| 7 | g.19116831T>A | CA367015321 | TWIST1 | c.491A>T (p.Gln164Leu) c.288A>T c.94A>T n.842A>T n.806A>T | |
| 7 | g.19116831T>C | CA367015319 | TWIST1 | c.491A>G (p.Gln164Arg) c.288A>G c.94A>G n.842A>G n.806A>G | |
| 7 | g.19116831T>G | CA367015320 | TWIST1 | c.491A>C (p.Gln164Pro) c.288A>C c.94A>C n.842A>C n.806A>C | |
| 7 | g.19116832G>A | CA367015322 | TWIST1 | c.490C>T (p.Gln164Ter) c.287C>T c.93C>T n.841C>T n.805C>T | |
| 7 | g.19116832G>C | CA367015323 | TWIST1 | c.490C>G (p.Gln164Glu) c.287C>G c.93C>G n.841C>G n.805C>G | |
| 7 | g.19116832G>T | CA367015324 | TWIST1 | c.490C>A (p.Gln164Lys) c.287C>A c.93C>A n.841C>A n.805C>A | |
| 7 | g.19116833G>A | CA454143449 | TWIST1 | c.489C>T (p.Leu163=) c.286C>T c.92C>T n.840C>T n.804C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116833G>C | CA4174474 | TWIST1 | c.489C>G (p.Leu163=) c.286C>G c.92C>G n.840C>G n.804C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19116833G= | CA1692250343 | TWIST1 | c.489C= (p.Leu163=) c.286C= c.92C= n.840C= n.804C= | |
| 7 | g.19116833G>T | CA454143451 | TWIST1 | c.489C>A (p.Leu163=) c.286C>A c.92C>A n.840C>A n.804C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116834A>C | CA367015325 | TWIST1 | c.488T>G (p.Leu163Arg) c.285T>G c.91T>G n.839T>G n.803T>G | |
| 7 | g.19116834A>G | CA367015326 | TWIST1 | c.488T>C (p.Leu163Pro) c.285T>C c.91T>C n.839T>C n.803T>C | ClinVar |
| 7 | g.19116834A>T | CA367015327 | TWIST1 | c.488T>A (p.Leu163His) c.285T>A c.91T>A n.839T>A n.803T>A | |
| 7 | g.19116834_19116837del | CA2695207464 | TWIST1 | c.485_488del (p.Val162AlafsTer?) c.282_285del c.88_91del n.836_839del n.800_803del | |
| 7 | g.19116834_19116840del | CA2695207463 | TWIST1 | c.482_488del (p.Gln161ProfsTer?) c.279_285del c.85_91del n.833_839del n.797_803del | |
| 7 | g.19116835G>A | CA155466583 | TWIST1 | c.487C>T (p.Leu163Phe) c.284C>T c.90C>T n.838C>T n.802C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116835G>C | CA367015328 | TWIST1 | c.487C>G (p.Leu163Val) c.284C>G c.90C>G n.838C>G n.802C>G | |
| 7 | g.19116835G= | CA1692250348 | TWIST1 | c.487C= (p.Leu163=) c.284C= c.90C= n.838C= n.802C= | |
| 7 | g.19116835G>T | CA367015329 | TWIST1 | c.487C>A (p.Leu163Ile) c.284C>A c.90C>A n.838C>A n.802C>A | |
| 7 | g.19116836del | CA2695207465 | TWIST1 | c.487del (p.Leu163SerfsTer?) c.284del c.90del n.838del n.802del | |
| 7 | g.19116836G>A | CA4174475 | TWIST1 | c.486C>T (p.Val162=) c.283C>T c.89C>T n.837C>T n.801C>T | dbSNP ExAC gnomAD v4 |
| 7 | g.19116836G>C | CA454143453 | TWIST1 | c.486C>G (p.Val162=) c.283C>G c.89C>G n.837C>G n.801C>G | |
| 7 | g.19116836G= | CA1692250350 | TWIST1 | c.486C= (p.Val162=) c.283C= c.89C= n.837C= n.801C= | |
| 7 | g.19116836G>T | CA454143454 | TWIST1 | c.486C>A (p.Val162=) c.283C>A c.89C>A n.837C>A n.801C>A | |
| 7 | g.19116837A>C | CA367015331 | TWIST1 | c.485T>G (p.Val162Gly) c.282T>G c.88T>G n.836T>G n.800T>G | |
| 7 | g.19116837A>G | CA367015332 | TWIST1 | c.485T>C (p.Val162Ala) c.282T>C c.88T>C n.836T>C n.800T>C | |
| 7 | g.19116837A>T | CA367015330 | TWIST1 | c.485T>A (p.Val162Asp) c.282T>A c.88T>A n.836T>A n.800T>A | |
| 7 | g.19116837_19116838delinsAC | CA1692250352 | TWIST1 | c.484_485delinsGT (p.Val162=) c.281_282delinsGT c.87_88delinsGT n.835_836delinsGT n.799_800delinsGT | |
| 7 | g.19116838C>A | CA367015333 | TWIST1 | c.484G>T (p.Val162Phe) c.281G>T c.87G>T n.835G>T n.799G>T | |
| 7 | g.19116838C>G | CA367015334 | TWIST1 | c.484G>C (p.Val162Leu) c.281G>C c.87G>C n.835G>C n.799G>C | |
| 7 | g.19116838C>T | CA367015335 | TWIST1 | c.484G>A (p.Val162Ile) c.281G>A c.87G>A n.835G>A n.799G>A | |
| 7 | g.19116839del | CA1692250354 | TWIST1 | c.484del (p.Val162SerfsTer?) c.281del c.87del n.835del n.799del | ClinVar dbSNP |
| 7 | g.19116839C>A | CA367015336 | TWIST1 | c.483G>T (p.Gln161His) c.280G>T c.86G>T n.834G>T n.798G>T | |
| 7 | g.19116839C= | CA1692250358 | TWIST1 | c.483G= (p.Gln161=) c.280G= c.86G= n.834G= n.798G= | |
| 7 | g.19116839C>G | CA367015337 | TWIST1 | c.483G>C (p.Gln161His) c.280G>C c.86G>C n.834G>C n.798G>C | |
| 7 | g.19116839C>T | CA454143457 | TWIST1 | c.483G>A (p.Gln161=) c.280G>A c.86G>A n.834G>A n.798G>A | dbSNP |
| 7 | g.19116840T>A | CA367015338 | TWIST1 | c.482A>T (p.Gln161Leu) c.279A>T c.85A>T n.833A>T n.797A>T | |
| 7 | g.19116840T>C | CA367015339 | TWIST1 | c.482A>G (p.Gln161Arg) c.279A>G c.85A>G n.833A>G n.797A>G | |
| 7 | g.19116840T>G | CA367015340 | TWIST1 | c.482A>C (p.Gln161Pro) c.279A>C c.85A>C n.833A>C n.797A>C | |
| 7 | g.19116841G>A | CA367015341 | TWIST1 | c.481C>T (p.Gln161Ter) c.278C>T c.84C>T n.832C>T n.796C>T | ClinVar |
| 7 | g.19116841G>C | CA367015342 | TWIST1 | c.481C>G (p.Gln161Glu) c.278C>G c.84C>G n.832C>G n.796C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116841G= | CA1692250360 | TWIST1 | c.481C= (p.Gln161=) c.278C= c.84C= n.832C= n.796C= | |
| 7 | g.19116841G>T | CA367015343 | TWIST1 | c.481C>A (p.Gln161Lys) c.278C>A c.84C>A n.832C>A n.796C>A | |
| 7 | g.19116842del | CA2695207466 | TWIST1 | c.481del (p.Gln161ArgfsTer?) c.278del c.84del n.832del n.796del | |
| 7 | g.19116842G>A | CA454143460 | TWIST1 | c.480C>T (p.Tyr160=) c.277C>T c.83C>T n.831C>T n.795C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116842G>C | CA367015344 | TWIST1 | c.480C>G (p.Tyr160Ter) c.277C>G c.83C>G n.831C>G n.795C>G | |
| 7 | g.19116842G= | CA1692250364 | TWIST1 | c.480C= (p.Tyr160=) c.277C= c.83C= n.831C= n.795C= | |
| 7 | g.19116842G>T | CA367015345 | TWIST1 | c.480C>A (p.Tyr160Ter) c.277C>A c.83C>A n.831C>A n.795C>A | |
| 7 | g.19116842_19116843insC | CA2695207467 | TWIST1 | c.479_480insG (p.Tyr160Ter) c.276_277insG c.82_83insG n.830_831insG n.794_795insG | |
| 7 | g.19116843T>A | CA367015348 | TWIST1 | c.479A>T (p.Tyr160Phe) c.276A>T c.82A>T n.830A>T n.794A>T | |
| 7 | g.19116843T>C | CA367015347 | TWIST1 | c.479A>G (p.Tyr160Cys) c.276A>G c.82A>G n.830A>G n.794A>G | gnomAD v4 |
| 7 | g.19116843T>G | CA367015346 | TWIST1 | c.479A>C (p.Tyr160Ser) c.276A>C c.82A>C n.830A>C n.794A>C | |
| 7 | g.19116844A>C | CA367015349 | TWIST1 | c.478T>G (p.Tyr160Asp) c.275T>G c.81T>G n.829T>G n.793T>G | |
| 7 | g.19116844A>G | CA367015350 | TWIST1 | c.478T>C (p.Tyr160His) c.275T>C c.81T>C n.829T>C n.793T>C | |
| 7 | g.19116844A>T | CA367015351 | TWIST1 | c.478T>A (p.Tyr160Asn) c.275T>A c.81T>A n.829T>A n.793T>A | |
| 7 | g.19116846_19116847dup | CA2695207468 | TWIST1 | c.477_478dup (p.Tyr160SerfsTer?) c.274_275dup c.80_81dup n.828_829dup n.792_793dup | |
| 7 | g.19116845G>A | CA454143463 | TWIST1 | c.477C>T (p.Leu159=) c.274C>T c.80C>T n.828C>T n.792C>T | |
| 7 | g.19116845G>C | CA454143461 | TWIST1 | c.477C>G (p.Leu159=) c.274C>G c.80C>G n.828C>G n.792C>G | COSMIC |
| 7 | g.19116845G>T | CA454143462 | TWIST1 | c.477C>A (p.Leu159=) c.274C>A c.80C>A n.828C>A n.792C>A | |
| 7 | g.19116846A= | CA1692250367 | TWIST1 | c.476T= (p.Leu159=) c.273T= c.79T= n.827T= n.791T= | |
| 7 | g.19116846A>C | CA367015352 | TWIST1 | c.476T>G (p.Leu159Arg) c.273T>G c.79T>G n.827T>G n.791T>G | |
| 7 | g.19116846A>G | CA367015353 | TWIST1 | c.476T>C (p.Leu159Pro) c.273T>C c.79T>C n.827T>C n.791T>C | ClinVar dbSNP |
| 7 | g.19116846A>T | CA367015354 | TWIST1 | c.476T>A (p.Leu159His) c.273T>A c.79T>A n.827T>A n.791T>A | ClinVar dbSNP |
| 7 | g.19116847G>A | CA367015355 | TWIST1 | c.475C>T (p.Leu159Phe) c.272C>T c.78C>T n.826C>T n.790C>T | ClinVar dbSNP |
| 7 | g.19116847G>C | CA367015356 | TWIST1 | c.475C>G (p.Leu159Val) c.272C>G c.78C>G n.826C>G n.790C>G | ClinVar dbSNP |
| 7 | g.19116847G= | CA1692250373 | TWIST1 | c.475C= (p.Leu159=) c.272C= c.78C= n.826C= n.790C= | |
| 7 | g.19116847G>T | CA367015357 | TWIST1 | c.475C>A (p.Leu159Ile) c.272C>A c.78C>A n.826C>A n.790C>A | |
| 7 | g.19116848G>A | CA454143467 | TWIST1 | c.474C>T (p.Phe158=) c.271C>T c.77C>T n.825C>T n.789C>T | |
| 7 | g.19116848G>C | CA367015358 | TWIST1 | c.474C>G (p.Phe158Leu) c.271C>G c.77C>G n.825C>G n.789C>G | ClinVar dbSNP |
| 7 | g.19116848G>T | CA367015359 | TWIST1 | c.474C>A (p.Phe158Leu) c.271C>A c.77C>A n.825C>A n.789C>A | |
| 7 | g.19116849A>C | CA367015360 | TWIST1 | c.473T>G (p.Phe158Cys) c.270T>G c.76T>G n.824T>G n.788T>G | |
| 7 | g.19116849A>G | CA367015361 | TWIST1 | c.473T>C (p.Phe158Ser) c.270T>C c.76T>C n.824T>C n.788T>C | |
| 7 | g.19116849A>T | CA367015362 | TWIST1 | c.473T>A (p.Phe158Tyr) c.270T>A c.76T>A n.824T>A n.788T>A | |
| 7 | g.19116850A>C | CA367015364 | TWIST1 | c.472T>G (p.Phe158Val) c.269T>G c.75T>G n.823T>G n.787T>G | |
| 7 | g.19116850A>G | CA367015365 | TWIST1 | c.472T>C (p.Phe158Leu) c.269T>C c.75T>C n.823T>C n.787T>C | ClinVar dbSNP |
| 7 | g.19116850A>T | CA367015363 | TWIST1 | c.472T>A (p.Phe158Ile) c.269T>A c.75T>A n.823T>A n.787T>A | |
| 7 | g.19116851G>A | CA454143470 | TWIST1 | c.471C>T (p.Asp157=) c.268C>T c.74C>T n.822C>T n.786C>T | gnomAD v4 |
| 7 | g.19116851G>C | CA367015367 | TWIST1 | c.471C>G (p.Asp157Glu) c.268C>G c.74C>G n.822C>G n.786C>G | |
| 7 | g.19116851G>T | CA367015366 | TWIST1 | c.471C>A (p.Asp157Glu) c.268C>A c.74C>A n.822C>A n.786C>A | |
| 7 | g.19116852T>A | CA367015370 | TWIST1 | c.470A>T (p.Asp157Val) c.267A>T c.73A>T n.821A>T n.785A>T | |
| 7 | g.19116852T>C | CA367015368 | TWIST1 | c.470A>G (p.Asp157Gly) c.267A>G c.73A>G n.821A>G n.785A>G | |
| 7 | g.19116852T>G | CA367015369 | TWIST1 | c.470A>C (p.Asp157Ala) c.267A>C c.73A>C n.821A>C n.785A>C | |
| 7 | g.19116853C>A | CA367015371 | TWIST1 | c.469G>T (p.Asp157Tyr) c.266G>T c.72G>T n.820G>T n.784G>T | |
| 7 | g.19116853C>G | CA367015372 | TWIST1 | c.469G>C (p.Asp157His) c.266G>C c.72G>C n.820G>C n.784G>C | |
| 7 | g.19116853C>T | CA367015373 | TWIST1 | c.469G>A (p.Asp157Asn) c.266G>A c.72G>A n.820G>A n.784G>A | gnomAD v4 |
| 7 | g.19116853_19116857del | CA2695207469 | TWIST1 | c.465_469del (p.Tyr155Ter) c.262_266del c.68_72del n.816_820del n.780_784del | |
| 7 | g.19116854G>A | CA454143473 | TWIST1 | c.468C>T (p.Ile156=) c.265C>T c.71C>T n.819C>T n.783C>T | |
| 7 | g.19116854G>C | CA367015374 | TWIST1 | c.468C>G (p.Ile156Met) c.265C>G c.71C>G n.819C>G n.783C>G | dbSNP |
| 7 | g.19116854G= | CA1692250379 | TWIST1 | c.468C= (p.Ile156=) c.265C= c.71C= n.819C= n.783C= | |
| 7 | g.19116854G>T | CA4174476 | TWIST1 | c.468C>A (p.Ile156=) c.265C>A c.71C>A n.819C>A n.783C>A | dbSNP ExAC gnomAD v2 |
| 7 | g.19116855A>C | CA367015375 | TWIST1 | c.467T>G (p.Ile156Ser) c.264T>G c.70T>G n.818T>G n.782T>G | ClinVar dbSNP |
| 7 | g.19116855A>G | CA367015376 | TWIST1 | c.467T>C (p.Ile156Thr) c.264T>C c.70T>C n.818T>C n.782T>C | |
| 7 | g.19116855A>T | CA367015377 | TWIST1 | c.467T>A (p.Ile156Asn) c.264T>A c.70T>A n.818T>A n.782T>A | |
| 7 | g.19116856T>A | CA367015378 | TWIST1 | c.466A>T (p.Ile156Phe) c.263A>T c.69A>T n.817A>T n.781A>T | |
| 7 | g.19116856T>C | CA254294 | TWIST1 | c.466A>G (p.Ile156Val) c.263A>G c.69A>G n.817A>G n.781A>G | ClinVar dbSNP |
| 7 | g.19116856T>G | CA367015379 | TWIST1 | c.466A>C (p.Ile156Leu) c.263A>C c.69A>C n.817A>C n.781A>C | |
| 7 | g.19116856T= | CA1692250381 | TWIST1 | c.466A= (p.Ile156=) c.263A= c.69A= n.817A= n.781A= | |
| 7 | g.19116857G>A | CA4174477 | TWIST1 | c.465C>T (p.Tyr155=) c.262C>T c.68C>T n.816C>T n.780C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116857G>C | CA367015381 | TWIST1 | c.465C>G (p.Tyr155Ter) c.262C>G c.68C>G n.816C>G n.780C>G | ClinVar |
| 7 | g.19116857G= | CA1692250385 | TWIST1 | c.465C= (p.Tyr155=) c.262C= c.68C= n.816C= n.780C= | |
| 7 | g.19116857G>T | CA367015380 | TWIST1 | c.465C>A (p.Tyr155Ter) c.262C>A c.68C>A n.816C>A n.780C>A | |
| 7 | g.19116858T>A | CA367015382 | TWIST1 | c.464A>T (p.Tyr155Phe) c.261A>T c.67A>T n.815A>T n.779A>T | |
| 7 | g.19116858T>C | CA367015383 | TWIST1 | c.464A>G (p.Tyr155Cys) c.261A>G c.67A>G n.815A>G n.779A>G | |
| 7 | g.19116858T>G | CA367015384 | TWIST1 | c.464A>C (p.Tyr155Ser) c.261A>C c.67A>C n.815A>C n.779A>C | |
| 7 | g.19116858_19116859insCTGGATAAAATATA | CA2681939408 | TWIST1 | c.463_464insTATATTTTATCCAG (p.Tyr155LeufsTer?) c.260_261insTATATTTTATCCAG c.66_67insTATATTTTATCCAG n.814_815insTATATTTTATCCAG n.778_779insTATATTTTATCCAG | gnomAD v4 |
| 7 | g.19116859A>C | CA367015385 | TWIST1 | c.463T>G (p.Tyr155Asp) c.260T>G c.66T>G n.814T>G n.778T>G | |
| 7 | g.19116859A>G | CA367015386 | TWIST1 | c.463T>C (p.Tyr155His) c.260T>C c.66T>C n.814T>C n.778T>C | |
| 7 | g.19116859A>T | CA367015387 | TWIST1 | c.463T>A (p.Tyr155Asn) c.260T>A c.66T>A n.814T>A n.778T>A | |
| 7 | g.19116860C>A | CA4174478 | TWIST1 | c.462G>T (p.Arg154Ser) c.259G>T c.65G>T n.813G>T n.777G>T | dbSNP ExAC gnomAD v2 |
| 7 | g.19116860C= | CA1692250387 | TWIST1 | c.462G= (p.Arg154=) c.259G= c.65G= n.813G= n.777G= | |
| 7 | g.19116860C>G | CA367015388 | TWIST1 | c.462G>C (p.Arg154Ser) c.259G>C c.65G>C n.813G>C n.777G>C | |
| 7 | g.19116860C>T | CA454143479 | TWIST1 | c.462G>A (p.Arg154=) c.259G>A c.65G>A n.813G>A n.777G>A | |
| 7 | g.19116860_19116861insGCTAATGAACTGACTAGTAA | CA2681939409 | TWIST1 | c.461_462insTTACTAGTCAGTTCATTAGC (p.Arg154SerfsTer3) c.258_259insTTACTAGTCAGTTCATTAGC c.64_65insTTACTAGTCAGTTCATTAGC n.812_813insTTACTAGTCAGTTCATTAGC n.776_777insTTACTAGTCAGTTCATTAGC | gnomAD v4 |
| 7 | g.19116861C>A | CA367015389 | TWIST1 | c.461G>T (p.Arg154Met) c.258G>T c.64G>T n.812G>T n.776G>T | |
| 7 | g.19116861C= | CA1692250390 | TWIST1 | c.461G= (p.Arg154=) c.258G= c.64G= n.812G= n.776G= | |
| 7 | g.19116861C>G | CA367015390 | TWIST1 | c.461G>C (p.Arg154Thr) c.258G>C c.64G>C n.812G>C n.776G>C | |
| 7 | g.19116861C>T | CA367015391 | TWIST1 | c.461G>A (p.Arg154Lys) c.258G>A c.64G>A n.812G>A n.776G>A | |
| 7 | g.19116862T>A | CA367015393 | TWIST1 | c.460A>T (p.Arg154Trp) c.257A>T c.63A>T n.811A>T n.775A>T | |
| 7 | g.19116862T>C | CA367015392 | TWIST1 | c.460A>G (p.Arg154Gly) c.257A>G c.63A>G n.811A>G n.775A>G | |
| 7 | g.19116862T>G | CA454143486 | TWIST1 | c.460A>C (p.Arg154=) c.257A>C c.63A>C n.811A>C n.775A>C | |
| 7 | g.19116862dup | CA913185068 | TWIST1 | c.460dup (p.Arg154LysfsTer?) c.257dup c.63dup n.811dup n.775dup | ClinVar dbSNP |
| 7 | g.19116863G>A | CA4174480 | TWIST1 | c.459C>T (p.Ala153=) c.256C>T c.62C>T n.810C>T n.774C>T | dbSNP ExAC gnomAD v4 |
| 7 | g.19116863G>C | CA4174479 | TWIST1 | c.459C>G (p.Ala153=) c.256C>G c.62C>G n.810C>G n.774C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116863G= | CA1692250396 | TWIST1 | c.459C= (p.Ala153=) c.256C= c.62C= n.810C= n.774C= | |
| 7 | g.19116863G>T | CA454143488 | TWIST1 | c.459C>A (p.Ala153=) c.256C>A c.62C>A n.810C>A n.774C>A | |
| 7 | g.19116864G>A | CA367015394 | TWIST1 | c.458C>T (p.Ala153Val) c.255C>T c.61C>T n.809C>T n.773C>T | gnomAD v4 |
| 7 | g.19116864G>C | CA367015395 | TWIST1 | c.458C>G (p.Ala153Gly) c.255C>G c.61C>G n.809C>G n.773C>G | |
| 7 | g.19116864G>T | CA367015396 | TWIST1 | c.458C>A (p.Ala153Asp) c.255C>A c.61C>A n.809C>A n.773C>A | |
| 7 | g.19116865C>A | CA367015399 | TWIST1 | c.457G>T (p.Ala153Ser) c.254G>T c.60G>T n.808G>T n.772G>T | |
| 7 | g.19116865C>G | CA367015398 | TWIST1 | c.457G>C (p.Ala153Pro) c.254G>C c.60G>C n.808G>C n.772G>C | |
| 7 | g.19116865C>T | CA367015397 | TWIST1 | c.457G>A (p.Ala153Thr) c.254G>A c.60G>A n.808G>A n.772G>A | |
| 7 | g.19116866C>A | CA454143491 | TWIST1 | c.456G>T (p.Ala152=) c.253G>T c.59G>T n.807G>T n.771G>T | |
| 7 | g.19116866C= | CA1692250398 | TWIST1 | c.456G= (p.Ala152=) c.253G= c.59G= n.807G= n.771G= | |
| 7 | g.19116866C>G | CA454143492 | TWIST1 | c.456G>C (p.Ala152=) c.253G>C c.59G>C n.807G>C n.771G>C | |
| 7 | g.19116866C>T | CA454143494 | TWIST1 | c.456G>A (p.Ala152=) c.253G>A c.59G>A n.807G>A n.771G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116867G>A | CA367015400 | TWIST1 | c.455C>T (p.Ala152Val) c.252C>T c.58C>T n.806C>T n.770C>T | ClinVar COSMIC |
| 7 | g.19116867G>C | CA367015401 | TWIST1 | c.455C>G (p.Ala152Gly) c.252C>G c.58C>G n.806C>G n.770C>G | |
| 7 | g.19116867G= | CA1692250402 | TWIST1 | c.455C= (p.Ala152=) c.252C= c.58C= n.806C= n.770C= | |
| 7 | g.19116867G>T | CA367015402 | TWIST1 | c.455C>A (p.Ala152Glu) c.252C>A c.58C>A n.806C>A n.770C>A | ClinVar dbSNP |
| 7 | g.19116869_19116891del | CA2695207470 | TWIST1 | c.433_455del (p.Lys145GlyfsTer?) c.230_252del c.36_58del n.784_806del n.748_770del | |
| 7 | g.19116868C>A | CA367015403 | TWIST1 | c.454G>T (p.Ala152Ser) c.251G>T c.57G>T n.805G>T n.769G>T | |
| 7 | g.19116868C= | CA1692250407 | TWIST1 | c.454G= (p.Ala152=) c.251G= c.57G= n.805G= n.769G= | |
| 7 | g.19116868C>G | CA367015404 | TWIST1 | c.454G>C (p.Ala152Pro) c.251G>C c.57G>C n.805G>C n.769G>C | ClinVar |
| 7 | g.19116868C>T | CA4174481 | TWIST1 | c.454G>A (p.Ala152Thr) c.251G>A c.57G>A n.805G>A n.769G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116869C>A | CA454143495 | TWIST1 | c.453G>T (p.Leu151=) c.250G>T c.56G>T n.804G>T n.768G>T | |
| 7 | g.19116869C>G | CA454143496 | TWIST1 | c.453G>C (p.Leu151=) c.250G>C c.56G>C n.804G>C n.768G>C | |
| 7 | g.19116869C>T | CA454143497 | TWIST1 | c.453G>A (p.Leu151=) c.250G>A c.56G>A n.804G>A n.768G>A | |
| 7 | g.19116870A>C | CA367015405 | TWIST1 | c.452T>G (p.Leu151Arg) c.249T>G c.55T>G n.803T>G n.767T>G | |
| 7 | g.19116870A>G | CA367015407 | TWIST1 | c.452T>C (p.Leu151Pro) c.249T>C c.55T>C n.803T>C n.767T>C | |
| 7 | g.19116870A>T | CA367015406 | TWIST1 | c.452T>A (p.Leu151Gln) c.249T>A c.55T>A n.803T>A n.767T>A | |
| 7 | g.19116871G>A | CA454143501 | TWIST1 | c.451C>T (p.Leu151=) c.248C>T c.54C>T n.802C>T n.766C>T | gnomAD v4 |
| 7 | g.19116871G>C | CA367015408 | TWIST1 | c.451C>G (p.Leu151Val) c.248C>G c.54C>G n.802C>G n.766C>G | ClinVar dbSNP |
| 7 | g.19116871G>T | CA367015409 | TWIST1 | c.451C>A (p.Leu151Met) c.248C>A c.54C>A n.802C>A n.766C>A | |
| 7 | g.19116872C>A | CA367015410 | TWIST1 | c.450G>T (p.Lys150Asn) c.247G>T c.53G>T n.801G>T n.765G>T | |
| 7 | g.19116872C= | CA1692250411 | TWIST1 | c.450G= (p.Lys150=) c.247G= c.53G= n.801G= n.765G= | |
| 7 | g.19116872C>G | CA4174482 | TWIST1 | c.450G>C (p.Lys150Asn) c.247G>C c.53G>C n.801G>C n.765G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116872C>T | CA454143502 | TWIST1 | c.450G>A (p.Lys150=) c.247G>A c.53G>A n.801G>A n.765G>A | dbSNP COSMIC |
| 7 | g.19116873T>A | CA367015411 | TWIST1 | c.449A>T (p.Lys150Met) c.246A>T c.52A>T n.800A>T n.764A>T | |
| 7 | g.19116873T>C | CA367015412 | TWIST1 | c.449A>G (p.Lys150Arg) c.246A>G c.52A>G n.800A>G n.764A>G | dbSNP |
| 7 | g.19116873T>G | CA367015413 | TWIST1 | c.449A>C (p.Lys150Thr) c.246A>C c.52A>C n.800A>C n.764A>C | |
| 7 | g.19116873T= | CA1692250414 | TWIST1 | c.449A= (p.Lys150=) c.246A= c.52A= n.800A= n.764A= | |
| 7 | g.19116874T>A | CA367015414 | TWIST1 | c.448A>T (p.Lys150Ter) c.245A>T c.51A>T n.799A>T n.763A>T | |
| 7 | g.19116874T>C | CA367015415 | TWIST1 | c.448A>G (p.Lys150Glu) c.245A>G c.51A>G n.799A>G n.763A>G | |
| 7 | g.19116874T>G | CA367015416 | TWIST1 | c.448A>C (p.Lys150Gln) c.245A>C c.51A>C n.799A>C n.763A>C | |
| 7 | g.19116875_19116886del | CA2573052854 | TWIST1 | c.437_448del (p.Ile146_Leu149del) c.234_245del c.40_51del n.788_799del n.752_763del | ClinVar dbSNP |
| 7 | g.19116875G>A | CA4174483 | TWIST1 | c.447C>T (p.Leu149=) c.244C>T c.50C>T n.798C>T n.762C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116875G>C | CA454143504 | TWIST1 | c.447C>G (p.Leu149=) c.244C>G c.50C>G n.798C>G n.762C>G | |
| 7 | g.19116875G= | CA1692250416 | TWIST1 | c.447C= (p.Leu149=) c.244C= c.50C= n.798C= n.762C= | |
| 7 | g.19116875G>T | CA454143503 | TWIST1 | c.447C>A (p.Leu149=) c.244C>A c.50C>A n.798C>A n.762C>A | |
| 7 | g.19116876A= | CA1692250419 | TWIST1 | c.446T= (p.Leu149=) c.243T= c.49T= n.797T= n.761T= | |
| 7 | g.19116876A>C | CA367015419 | TWIST1 | c.446T>G (p.Leu149Arg) c.243T>G c.49T>G n.797T>G n.761T>G | ClinVar dbSNP |
| 7 | g.19116876A>G | CA367015418 | TWIST1 | c.446T>C (p.Leu149Pro) c.243T>C c.49T>C n.797T>C n.761T>C | |
| 7 | g.19116876A>T | CA367015417 | TWIST1 | c.446T>A (p.Leu149His) c.243T>A c.49T>A n.797T>A n.761T>A | |
| 7 | g.19116877G>A | CA367015420 | TWIST1 | c.445C>T (p.Leu149Phe) c.242C>T c.48C>T n.796C>T n.760C>T | ClinVar dbSNP |
| 7 | g.19116877G>C | CA367015422 | TWIST1 | c.445C>G (p.Leu149Val) c.242C>G c.48C>G n.796C>G n.760C>G | |
| 7 | g.19116877G>T | CA367015421 | TWIST1 | c.445C>A (p.Leu149Ile) c.242C>A c.48C>A n.796C>A n.760C>A | |
| 7 | g.19116878G>A | CA4174484 | TWIST1 | c.444C>T (p.Thr148=) c.241C>T c.47C>T n.795C>T n.759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116878G>C | CA454143512 | TWIST1 | c.444C>G (p.Thr148=) c.241C>G c.47C>G n.795C>G n.759C>G | |
| 7 | g.19116878G= | CA1692250421 | TWIST1 | c.444C= (p.Thr148=) c.241C= c.47C= n.795C= n.759C= | |
| 7 | g.19116878G>T | CA454143513 | TWIST1 | c.444C>A (p.Thr148=) c.241C>A c.47C>A n.795C>A n.759C>A | |
| 7 | g.19116879G>A | CA367015423 | TWIST1 | c.443C>T (p.Thr148Ile) c.240C>T c.46C>T n.794C>T n.758C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116879G>C | CA367015424 | TWIST1 | c.443C>G (p.Thr148Ser) c.240C>G c.46C>G n.794C>G n.758C>G | |
| 7 | g.19116879G= | CA1692250427 | TWIST1 | c.443C= (p.Thr148=) c.240C= c.46C= n.794C= n.758C= | |
| 7 | g.19116879G>T | CA367015425 | TWIST1 | c.443C>A (p.Thr148Asn) c.240C>A c.46C>A n.794C>A n.758C>A | |
| 7 | g.19116880T>A | CA367015426 | TWIST1 | c.442A>T (p.Thr148Ser) c.239A>T c.45A>T n.793A>T n.757A>T | |
| 7 | g.19116880T>C | CA367015427 | TWIST1 | c.442A>G (p.Thr148Ala) c.239A>G c.45A>G n.793A>G n.757A>G | |
| 7 | g.19116880T>G | CA367015428 | TWIST1 | c.442A>C (p.Thr148Pro) c.239A>C c.45A>C n.793A>C n.757A>C | |
| 7 | g.19116881C>A | CA367015429 | TWIST1 | c.441G>T (p.Gln147His) c.238G>T c.44G>T n.792G>T n.756G>T | |
| 7 | g.19116881C>G | CA367015430 | TWIST1 | c.441G>C (p.Gln147His) c.238G>C c.44G>C n.792G>C n.756G>C | |
| 7 | g.19116881C>T | CA454143519 | TWIST1 | c.441G>A (p.Gln147=) c.238G>A c.44G>A n.792G>A n.756G>A | |
| 7 | g.19116882T>A | CA367015431 | TWIST1 | c.440A>T (p.Gln147Leu) c.237A>T c.43A>T n.791A>T n.755A>T | |
| 7 | g.19116882T>C | CA367015432 | TWIST1 | c.440A>G (p.Gln147Arg) c.237A>G c.43A>G n.791A>G n.755A>G | |
| 7 | g.19116882T>G | CA367015433 | TWIST1 | c.440A>C (p.Gln147Pro) c.237A>C c.43A>C n.791A>C n.755A>C | |
| 7 | g.19116883G>A | CA367015434 | TWIST1 | c.439C>T (p.Gln147Ter) c.236C>T c.42C>T n.790C>T n.754C>T | |
| 7 | g.19116883G>C | CA4174485 | TWIST1 | c.439C>G (p.Gln147Glu) c.236C>G c.42C>G n.790C>G n.754C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116883G= | CA1692250430 | TWIST1 | c.439C= (p.Gln147=) c.236C= c.42C= n.790C= n.754C= | |
| 7 | g.19116883G>T | CA367015435 | TWIST1 | c.439C>A (p.Gln147Lys) c.236C>A c.42C>A n.790C>A n.754C>A | |
| 7 | g.19116884A= | CA1692250434 | TWIST1 | c.438T= (p.Ile146=) c.235T= c.41T= n.789T= n.753T= | |
| 7 | g.19116884A>C | CA367015436 | TWIST1 | c.438T>G (p.Ile146Met) c.235T>G c.41T>G n.789T>G n.753T>G | COSMIC |
| 7 | g.19116884A>G | CA155466584 | TWIST1 | c.438T>C (p.Ile146=) c.235T>C c.41T>C n.789T>C n.753T>C | dbSNP gnomAD v4 |
| 7 | g.19116884A>T | CA454143526 | TWIST1 | c.438T>A (p.Ile146=) c.235T>A c.41T>A n.789T>A n.753T>A | |
| 7 | g.19116885dup | CA2695207471 | TWIST1 | c.438dup (p.Gln147SerfsTer?) c.235dup c.41dup n.789dup n.753dup | |
| 7 | g.19116885A= | CA1692250438 | TWIST1 | c.437T= (p.Ile146=) c.234T= c.40T= n.788T= n.752T= | |
| 7 | g.19116885A>C | CA367015437 | TWIST1 | c.437T>G (p.Ile146Ser) c.234T>G c.40T>G n.788T>G n.752T>G | ClinVar dbSNP |
| 7 | g.19116885A>G | CA367015438 | TWIST1 | c.437T>C (p.Ile146Thr) c.234T>C c.40T>C n.788T>C n.752T>C | ClinVar dbSNP |
| 7 | g.19116885A>T | CA367015439 | TWIST1 | c.437T>A (p.Ile146Asn) c.234T>A c.40T>A n.788T>A n.752T>A | gnomAD v4 |
| 7 | g.19116886T>A | CA367015440 | TWIST1 | c.436A>T (p.Ile146Phe) c.233A>T c.39A>T n.787A>T n.751A>T | |
| 7 | g.19116886T>C | CA367015441 | TWIST1 | c.436A>G (p.Ile146Val) c.233A>G c.39A>G n.787A>G n.751A>G | |
| 7 | g.19116886T>G | CA367015442 | TWIST1 | c.436A>C (p.Ile146Leu) c.233A>C c.39A>C n.787A>C n.751A>C | |
| 7 | g.19116887C>A | CA367015443 | TWIST1 | c.435G>T (p.Lys145Asn) c.232G>T c.38G>T n.786G>T n.750G>T | |
| 7 | g.19116887C= | CA1692250439 | TWIST1 | c.435G= (p.Lys145=) c.232G= c.38G= n.786G= n.750G= | |
| 7 | g.19116887C>G | CA367015444 | TWIST1 | c.435G>C (p.Lys145Asn) c.232G>C c.38G>C n.786G>C n.750G>C | |
| 7 | g.19116887C>T | CA155466585 | TWIST1 | c.435G>A (p.Lys145=) c.232G>A c.38G>A n.786G>A n.750G>A | dbSNP gnomAD v4 |
| 7 | g.19116888T>A | CA367015446 | TWIST1 | c.434A>T (p.Lys145Met) c.231A>T c.37A>T n.785A>T n.749A>T | |
| 7 | g.19116888T>C | CA367015447 | TWIST1 | c.434A>G (p.Lys145Arg) c.231A>G c.37A>G n.785A>G n.749A>G | |
| 7 | g.19116888T>G | CA367015445 | TWIST1 | c.434A>C (p.Lys145Thr) c.231A>C c.37A>C n.785A>C n.749A>C | |
| 7 | g.19116889dup | CA658655489 | TWIST1 | c.434dup (p.Ile146AspfsTer?) c.231dup c.37dup n.785dup n.749dup | |
| 7 | g.19116889T>A | CA367015448 | TWIST1 | c.433A>T (p.Lys145Ter) c.230A>T c.36A>T n.784A>T n.748A>T | |
| 7 | g.19116889T>C | CA367015449 | TWIST1 | c.433A>G (p.Lys145Glu) c.230A>G c.36A>G n.784A>G n.748A>G | ClinVar dbSNP |
| 7 | g.19116889T>G | CA367015450 | TWIST1 | c.433A>C (p.Lys145Gln) c.230A>C c.36A>C n.784A>C n.748A>C | |
| 7 | g.19116889T= | CA1692250441 | TWIST1 | c.433A= (p.Lys145=) c.230A= c.36A= n.784A= n.748A= |