| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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= | |
| 7 | g.19116890G>A | CA454143532 | TWIST1 | c.432C>T (p.Ser144=) c.229C>T c.35C>T n.783C>T n.747C>T | |
| 7 | g.19116890G>C | CA367015451 | TWIST1 | c.432C>G (p.Ser144Arg) c.229C>G c.35C>G n.783C>G n.747C>G | |
| 7 | g.19116890G>T | CA367015452 | TWIST1 | c.432C>A (p.Ser144Arg) c.229C>A c.35C>A n.783C>A n.747C>A | |
| 7 | g.19116891C>A | CA367015453 | TWIST1 | c.431G>T (p.Ser144Ile) c.228G>T c.34G>T n.782G>T n.746G>T | |
| 7 | g.19116891C>G | CA367015454 | TWIST1 | c.431G>C (p.Ser144Thr) c.228G>C c.34G>C n.782G>C n.746G>C | |
| 7 | g.19116891C>T | CA367015455 | TWIST1 | c.431G>A (p.Ser144Asn) c.228G>A c.34G>A n.782G>A n.746G>A | |
| 7 | g.19116892T>A | CA367015456 | TWIST1 | c.430A>T (p.Ser144Cys) c.227A>T c.33A>T n.781A>T n.745A>T | |
| 7 | g.19116892T>C | CA367015457 | TWIST1 | c.430A>G (p.Ser144Gly) c.227A>G c.33A>G n.781A>G n.745A>G | |
| 7 | g.19116892T>G | CA367015458 | TWIST1 | c.430A>C (p.Ser144Arg) c.227A>C c.33A>C n.781A>C n.745A>C | |
| 7 | g.19116893C>A | CA454143542 | TWIST1 | c.429G>T (p.Leu143=) c.226G>T c.32G>T n.780G>T n.744G>T | |
| 7 | g.19116893C= | CA1692250444 | TWIST1 | c.429G= (p.Leu143=) c.226G= c.32G= n.780G= n.744G= | |
| 7 | g.19116893C>G | CA454143544 | TWIST1 | c.429G>C (p.Leu143=) c.226G>C c.32G>C n.780G>C n.744G>C | |
| 7 | g.19116893C>T | CA454143546 | TWIST1 | c.429G>A (p.Leu143=) c.226G>A c.32G>A n.780G>A n.744G>A | dbSNP |
| 7 | g.19116894del | CA2695207472 | TWIST1 | c.428del (p.Leu143ArgfsTer?) c.225del c.31del n.779del n.743del | |
| 7 | g.19116894A>C | CA367015459 | TWIST1 | c.428T>G (p.Leu143Arg) c.225T>G c.31T>G n.779T>G n.743T>G | |
| 7 | g.19116894A>G | CA367015460 | TWIST1 | c.428T>C (p.Leu143Pro) c.225T>C c.31T>C n.779T>C n.743T>C | |
| 7 | g.19116894A>T | CA367015461 | TWIST1 | c.428T>A (p.Leu143Gln) c.225T>A c.31T>A n.779T>A n.743T>A | gnomAD v4 |
| 7 | g.19116895G>A | CA454143550 | TWIST1 | c.427C>T (p.Leu143=) c.224C>T c.30C>T n.778C>T n.742C>T | gnomAD v4 |
| 7 | g.19116895G>C | CA367015462 | TWIST1 | c.427C>G (p.Leu143Val) c.224C>G c.30C>G n.778C>G n.742C>G | gnomAD v4 |
| 7 | g.19116895G>T | CA367015463 | TWIST1 | c.427C>A (p.Leu143Met) c.224C>A c.30C>A n.778C>A n.742C>A | |
| 7 | g.19116896C>A | CA367015464 | TWIST1 | c.426G>T (p.Lys142Asn) c.223G>T c.29G>T n.777G>T n.741G>T | |
| 7 | g.19116896C= | CA1692250447 | TWIST1 | c.426G= (p.Lys142=) c.223G= c.29G= n.777G= n.741G= | |
| 7 | g.19116896C>G | CA367015465 | TWIST1 | c.426G>C (p.Lys142Asn) c.223G>C c.29G>C n.777G>C n.741G>C | |
| 7 | g.19116896C>T | CA155466586 | TWIST1 | c.426G>A (p.Lys142=) c.223G>A c.29G>A n.777G>A n.741G>A | dbSNP |
| 7 | g.19116897T>A | CA367015466 | TWIST1 | c.425A>T (p.Lys142Met) c.222A>T c.28A>T n.776A>T n.740A>T | |
| 7 | g.19116897T>C | CA367015467 | TWIST1 | c.425A>G (p.Lys142Arg) c.222A>G c.28A>G n.776A>G n.740A>G | |
| 7 | g.19116897T>G | CA367015468 | TWIST1 | c.425A>C (p.Lys142Thr) c.222A>C c.28A>C n.776A>C n.740A>C | |
| 7 | g.19116898T>A | CA367015469 | TWIST1 | c.424A>T (p.Lys142Ter) c.221A>T c.27A>T n.775A>T n.739A>T | |
| 7 | g.19116898T>C | CA367015470 | TWIST1 | c.424A>G (p.Lys142Glu) c.221A>G c.27A>G n.775A>G n.739A>G | |
| 7 | g.19116898T>G | CA367015471 | TWIST1 | c.424A>C (p.Lys142Gln) c.221A>C c.27A>C n.775A>C n.739A>C | |
| 7 | g.19116899G>A | CA454143556 | TWIST1 | c.423C>T (p.Asp141=) c.220C>T c.26C>T n.774C>T n.738C>T | gnomAD v4 |
| 7 | g.19116899G>C | CA367015472 | TWIST1 | c.423C>G (p.Asp141Glu) c.220C>G c.26C>G n.774C>G n.738C>G | |
| 7 | g.19116899G>T | CA367015473 | TWIST1 | c.423C>A (p.Asp141Glu) c.220C>A c.26C>A n.774C>A n.738C>A | |
| 7 | g.19116899_19116923dup | CA2580615853 | TWIST1 | c.399_423dup (p.Lys142AspfsTer?) c.196_220dup c.2_26dup n.750_774dup n.714_738dup | ClinVar |
| 7 | g.19116900T>A | CA367015474 | TWIST1 | c.422A>T (p.Asp141Val) c.219A>T c.25A>T n.773A>T n.737A>T | |
| 7 | g.19116900T>C | CA367015475 | TWIST1 | c.422A>G (p.Asp141Gly) c.219A>G c.25A>G n.773A>G n.737A>G | |
| 7 | g.19116900T>G | CA367015476 | TWIST1 | c.422A>C (p.Asp141Ala) c.219A>C c.25A>C n.773A>C n.737A>C | |
| 7 | g.19116901C>A | CA367015478 | TWIST1 | c.421G>T (p.Asp141Tyr) c.218G>T c.24G>T n.772G>T n.736G>T | |
| 7 | g.19116901C= | CA1692250448 | TWIST1 | c.421G= (p.Asp141=) c.218G= c.24G= n.772G= n.736G= | |
| 7 | g.19116901C>G | CA367015479 | TWIST1 | c.421G>C (p.Asp141His) c.218G>C c.24G>C n.772G>C n.736G>C | gnomAD v4 |
| 7 | g.19116901C>T | CA367015477 | TWIST1 | c.421G>A (p.Asp141Asn) c.218G>A c.24G>A n.772G>A n.736G>A | ClinVar |
| 7 | g.19116902C>A | CA155466587 | TWIST1 | c.420G>T (p.Ser140=) c.217G>T c.23G>T n.771G>T n.735G>T | dbSNP gnomAD v4 |
| 7 | g.19116902C= | CA1692250452 | TWIST1 | c.420G= (p.Ser140=) c.217G= c.23G= n.771G= n.735G= | |
| 7 | g.19116902C>G | CA4174486 | TWIST1 | c.420G>C (p.Ser140=) c.217G>C c.23G>C n.771G>C n.735G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.19116902C>T | CA454143558 | TWIST1 | c.420G>A (p.Ser140=) c.217G>A c.23G>A n.771G>A n.735G>A | gnomAD v4 |
| 7 | g.19116903_19116923dup | CA915944882 | TWIST1 | c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) c.197_217dup c.3_23dup n.751_771dup n.715_735dup | ClinVar dbSNP |
| 7 | g.19116903G>A | CA367015480 | TWIST1 | c.419C>T (p.Ser140Leu) c.216C>T c.22C>T n.770C>T n.734C>T | ClinVar dbSNP |
| 7 | g.19116903G>C | CA367015481 | TWIST1 | c.419C>G (p.Ser140Trp) c.216C>G c.22C>G n.770C>G n.734C>G | gnomAD v4 |
| 7 | g.19116903G= | CA1692250459 | TWIST1 | c.419C= (p.Ser140=) c.216C= c.22C= n.770C= n.734C= | |
| 7 | g.19116903G>T | CA367015482 | TWIST1 | c.419C>A (p.Ser140Ter) c.216C>A c.22C>A n.770C>A n.734C>A | ClinVar dbSNP |
| 7 | g.19116904A= | CA1692250466 | TWIST1 | c.418T= (p.Ser140=) c.215T= c.21T= n.769T= n.733T= | |
| 7 | g.19116904A>C | CA367015483 | TWIST1 | c.418T>G (p.Ser140Ala) c.215T>G c.21T>G n.769T>G n.733T>G | |
| 7 | g.19116904A>G | CA367015484 | TWIST1 | c.418T>C (p.Ser140Pro) c.215T>C c.21T>C n.769T>C n.733T>C | |
| 7 | g.19116904A>T | CA367015485 | TWIST1 | c.418T>A (p.Ser140Thr) c.215T>A c.21T>A n.769T>A n.733T>A | |
| 7 | g.19116904_19116924dup | CA891842918 | TWIST1 | c.398_418dup (p.Ser140Ter) c.195_215dup c.1_21dup n.749_769dup n.713_733dup | ClinVar dbSNP |
| 7 | g.19116905G>A | CA454143562 | TWIST1 | c.417C>T (p.Pro139=) c.214C>T c.20C>T n.768C>T n.732C>T | dbSNP gnomAD v4 |
| 7 | g.19116905G>C | CA4174487 | TWIST1 | c.417C>G (p.Pro139=) c.214C>G c.20C>G n.768C>G n.732C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116905G= | CA1692250471 | TWIST1 | c.417C= (p.Pro139=) c.214C= c.20C= n.768C= n.732C= | |
| 7 | g.19116905G>T | CA454143564 | TWIST1 | c.417C>A (p.Pro139=) c.214C>A c.20C>A n.768C>A n.732C>A | |
| 7 | g.19116905_19116925dup | CA658657662 | TWIST1 | c.397_417dup (p.Pro139_Ser140insLysIleIleProThrLeuPro) c.194_214dup n.748_768dup n.712_732dup | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116906G>A | CA367015486 | TWIST1 | c.416C>T (p.Pro139Leu) c.213C>T c.19C>T n.767C>T n.731C>T | ClinVar dbSNP |
| 7 | g.19116906G>C | CA367015487 | TWIST1 | c.416C>G (p.Pro139Arg) c.213C>G c.19C>G n.767C>G n.731C>G | |
| 7 | g.19116906G= | CA1692250479 | TWIST1 | c.416C= (p.Pro139=) c.213C= c.19C= n.767C= n.731C= | |
| 7 | g.19116906G>T | CA367015488 | TWIST1 | c.416C>A (p.Pro139His) c.213C>A c.19C>A n.767C>A n.731C>A | |
| 7 | g.19116906_19116926dup | CA658796907 | TWIST1 | c.396_416dup (p.Pro139_Ser140insLysIleIleProThrLeuPro) c.193_213dup n.747_767dup n.711_731dup | ClinVar dbSNP |
| 7 | g.19116906_19116927delinsGGCAGCGTGGGGATGATCTTCC | CA1692250477 | TWIST1 | c.395_416delinsGGAAGATCATCCCCACGCTGCC (p.Arg132=) c.192_213delinsGGAAGATCATCCCCACGCTGCC n.746_767delinsGGAAGATCATCCCCACGCTGCC n.710_731delinsGGAAGATCATCCCCACGCTGCC | |
| 7 | g.19116907G>A | CA367015489 | TWIST1 | c.415C>T (p.Pro139Ser) c.212C>T c.18C>T n.766C>T n.730C>T | ClinVar dbSNP |
| 7 | g.19116907G>C | CA367015490 | TWIST1 | c.415C>G (p.Pro139Ala) c.212C>G c.18C>G n.766C>G n.730C>G | |
| 7 | g.19116907G>T | CA367015491 | TWIST1 | c.415C>A (p.Pro139Thr) c.212C>A c.18C>A n.766C>A n.730C>A | |
| 7 | g.19116913_19116933dup | CA2573142038 | TWIST1 | c.395_415dup (p.Leu138_Pro139insArgLysIleIleProThrLeu) c.192_212dup n.746_766dup n.710_730dup | ClinVar dbSNP |
| 7 | g.19116913_19116933del | CA658657663 | TWIST1 | c.395_415del (p.Arg132_Leu138del) c.192_212del n.746_766del n.710_730del | ClinVar dbSNP |
| 7 | g.19116908C>A | CA454143568 | TWIST1 | c.414G>T (p.Leu138=) c.211G>T c.17G>T n.765G>T n.729G>T | |
| 7 | g.19116908C= | CA1692250488 | TWIST1 | c.414G= (p.Leu138=) c.211G= c.17G= n.765G= n.729G= | |
| 7 | g.19116908C>G | CA454143570 | TWIST1 | c.414G>C (p.Leu138=) c.211G>C c.17G>C n.765G>C n.729G>C | |
| 7 | g.19116908C>T | CA454143574 | TWIST1 | c.414G>A (p.Leu138=) c.211G>A c.17G>A n.765G>A n.729G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116909A>C | CA367015492 | TWIST1 | c.413T>G (p.Leu138Arg) c.210T>G c.16T>G n.764T>G n.728T>G | |
| 7 | g.19116909A>G | CA367015494 | TWIST1 | c.413T>C (p.Leu138Pro) c.210T>C c.16T>C n.764T>C n.728T>C | |
| 7 | g.19116909A>T | CA367015493 | TWIST1 | c.413T>A (p.Leu138Gln) c.210T>A c.16T>A n.764T>A n.728T>A | |
| 7 | g.19116910G>A | CA454143579 | TWIST1 | c.412C>T (p.Leu138=) c.209C>T c.15C>T n.763C>T n.727C>T | |
| 7 | g.19116910G>C | CA367015495 | TWIST1 | c.412C>G (p.Leu138Val) c.209C>G c.15C>G n.763C>G n.727C>G | |
| 7 | g.19116910G>T | CA367015496 | TWIST1 | c.412C>A (p.Leu138Met) c.209C>A c.15C>A n.763C>A n.727C>A | |
| 7 | g.19116911C>A | CA454143583 | TWIST1 | c.411G>T (p.Thr137=) c.208G>T c.14G>T n.762G>T n.726G>T | |
| 7 | g.19116911C>G | CA454143584 | TWIST1 | c.411G>C (p.Thr137=) c.208G>C c.14G>C n.762G>C n.726G>C | gnomAD v4 |
| 7 | g.19116911C>T | CA454143585 | TWIST1 | c.411G>A (p.Thr137=) c.208G>A c.14G>A n.762G>A n.726G>A | gnomAD v4 |
| 7 | g.19116912G>A | CA367015497 | TWIST1 | c.410C>T (p.Thr137Met) c.207C>T c.13C>T n.761C>T n.725C>T | |
| 7 | g.19116912G>C | CA367015498 | TWIST1 | c.410C>G (p.Thr137Arg) c.207C>G c.13C>G n.761C>G n.725C>G | ClinVar dbSNP |
| 7 | g.19116912G>T | CA367015499 | TWIST1 | c.410C>A (p.Thr137Lys) c.207C>A c.13C>A n.761C>A n.725C>A | |
| 7 | g.19116913T>A | CA367015500 | TWIST1 | c.409A>T (p.Thr137Ser) c.206A>T c.12A>T n.760A>T n.724A>T | |
| 7 | g.19116913T>C | CA367015501 | TWIST1 | c.409A>G (p.Thr137Ala) c.206A>G c.12A>G n.760A>G n.724A>G | |
| 7 | g.19116913T>G | CA367015502 | TWIST1 | c.409A>C (p.Thr137Pro) c.206A>C c.12A>C n.760A>C n.724A>C | |
| 7 | g.19116913T= | CA1692250493 | TWIST1 | c.409A= (p.Thr137=) c.206A= c.12A= n.760A= n.724A= | |
| 7 | g.19116914G>A | CA454143697 | TWIST1 | c.408C>T (p.Pro136=) c.205C>T c.11C>T n.759C>T n.723C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19116914G>C | CA454143699 | TWIST1 | c.408C>G (p.Pro136=) c.205C>G c.11C>G n.759C>G n.723C>G | dbSNP gnomAD v4 |
| 7 | g.19116914G= | CA1692250498 | TWIST1 | c.408C= (p.Pro136=) c.205C= c.11C= n.759C= n.723C= | |
| 7 | g.19116914G>T | CA454143700 | TWIST1 | c.408C>A (p.Pro136=) c.205C>A c.11C>A n.759C>A n.723C>A | |
| 7 | g.19116917dup | CA658796908 | TWIST1 | c.408dup (p.Thr137HisfsTer?) c.205dup c.11dup n.759dup n.723dup | ClinVar dbSNP |
| 7 | g.19116917del | CA2580615854 | TWIST1 | c.408del (p.Thr137ArgfsTer7) c.205del c.11del n.759del n.723del | ClinVar |
| 7 | g.19116916_19116936del | CA2695207473 | TWIST1 | c.388_408del (p.Ala130_Pro136del) c.185_205del n.739_759del n.703_723del | |
| 7 | g.19116915G>A | CA367015503 | TWIST1 | c.407C>T (p.Pro136Leu) c.204C>T c.10C>T n.758C>T n.722C>T | ClinVar |
| 7 | g.19116915G>C | CA367015504 | TWIST1 | c.407C>G (p.Pro136Arg) c.204C>G c.10C>G n.758C>G n.722C>G | |
| 7 | g.19116915G>T | CA367015505 | TWIST1 | c.407C>A (p.Pro136His) c.204C>A c.10C>A n.758C>A n.722C>A | COSMIC |
| 7 | g.19116916G>A | CA367015508 | TWIST1 | c.406C>T (p.Pro136Ser) c.203C>T c.9C>T n.757C>T n.721C>T | |
| 7 | g.19116916G>C | CA367015507 | TWIST1 | c.406C>G (p.Pro136Ala) c.203C>G c.9C>G n.757C>G n.721C>G | ClinVar |
| 7 | g.19116916G= | CA1692250506 | TWIST1 | c.406C= (p.Pro136=) c.203C= c.9C= n.757C= n.721C= | |
| 7 | g.19116916G>T | CA367015506 | TWIST1 | c.406C>A (p.Pro136Thr) c.203C>A c.9C>A n.757C>A n.721C>A | ClinVar dbSNP |
| 7 | g.19116917G>A | CA4174489 | TWIST1 | c.405C>T (p.Ile135=) c.202C>T c.8C>T n.756C>T n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116917G>C | CA367015509 | TWIST1 | c.405C>G (p.Ile135Met) c.202C>G c.8C>G n.756C>G n.720C>G | ClinVar dbSNP |
| 7 | g.19116917G= | CA1692250517 | TWIST1 | c.405C= (p.Ile135=) c.202C= c.8C= n.756C= n.720C= | |
| 7 | g.19116917G>T | CA454143704 | TWIST1 | c.405C>A (p.Ile135=) c.202C>A c.8C>A n.756C>A n.720C>A | gnomAD v4 |
| 7 | g.19116920_19116922del | CA2580615855 | TWIST1 | c.403_405del (p.Ile135del) c.200_202del c.6_8del n.754_756del n.718_720del | ClinVar dbSNP |
| 7 | g.19116919_19116939dup | CA4174488 | TWIST1 | c.385_405dup (p.Ile135_Pro136insAlaAlaLeuArgLysIleIle) c.182_202dup n.736_756dup n.700_720dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116918A>C | CA367015510 | TWIST1 | c.404T>G (p.Ile135Ser) c.201T>G c.7T>G n.755T>G n.719T>G | |
| 7 | g.19116918A>G | CA367015511 | TWIST1 | c.404T>C (p.Ile135Thr) c.201T>C c.7T>C n.755T>C n.719T>C | |
| 7 | g.19116918A>T | CA367015512 | TWIST1 | c.404T>A (p.Ile135Asn) c.201T>A c.7T>A n.755T>A n.719T>A | |
| 7 | g.19116919T>A | CA367015513 | TWIST1 | c.403A>T (p.Ile135Phe) c.200A>T c.6A>T n.754A>T n.718A>T | |
| 7 | g.19116919T>C | CA367015514 | TWIST1 | c.403A>G (p.Ile135Val) c.200A>G c.6A>G n.754A>G n.718A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116919T>G | CA367015515 | TWIST1 | c.403A>C (p.Ile135Leu) c.200A>C c.6A>C n.754A>C n.718A>C | |
| 7 | g.19116919T= | CA1692250523 | TWIST1 | c.403A= (p.Ile135=) c.200A= c.6A= n.754A= n.718A= | |
| 7 | g.19116920G>A | CA454143709 | TWIST1 | c.402C>T (p.Ile134=) c.199C>T c.5C>T n.753C>T n.717C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116920G>C | CA367015516 | TWIST1 | c.402C>G (p.Ile134Met) c.199C>G c.5C>G n.753C>G n.717C>G | gnomAD v4 |
| 7 | g.19116920G= | CA1692250525 | TWIST1 | c.402C= (p.Ile134=) c.199C= c.5C= n.753C= n.717C= | |
| 7 | g.19116920G>T | CA454143710 | TWIST1 | c.402C>A (p.Ile134=) c.199C>A c.5C>A n.753C>A n.717C>A | |
| 7 | g.19116921A>C | CA367015517 | TWIST1 | c.401T>G (p.Ile134Ser) c.198T>G c.4T>G n.752T>G n.716T>G | |
| 7 | g.19116921A>G | CA367015518 | TWIST1 | c.401T>C (p.Ile134Thr) c.198T>C c.4T>C n.752T>C n.716T>C | |
| 7 | g.19116921A>T | CA367015519 | TWIST1 | c.401T>A (p.Ile134Asn) c.198T>A c.4T>A n.752T>A n.716T>A | |
| 7 | g.19116921_19116924delinsATCT | CA1692250527 | TWIST1 | c.398_401delinsAGAT (p.Lys133=) c.195_198delinsAGAT c.1_4delinsAGAT n.749_752delinsAGAT n.713_716delinsAGAT | |
| 7 | g.19116922T>A | CA367015520 | TWIST1 | c.400A>T (p.Ile134Phe) c.197A>T c.3A>T n.751A>T n.715A>T | |
| 7 | g.19116922T>C | CA367015521 | TWIST1 | c.400A>G (p.Ile134Val) c.197A>G c.3A>G n.751A>G n.715A>G | |
| 7 | g.19116922T>G | CA367015522 | TWIST1 | c.400A>C (p.Ile134Leu) c.197A>C c.3A>C n.751A>C n.715A>C | gnomAD v4 |
| 7 | g.19116924_19116926del | CA658796909 | TWIST1 | c.398_400del (p.Lys133del) c.195_197del n.749_751del n.713_715del | ClinVar dbSNP |
| 7 | g.19116923C>A | CA367015523 | TWIST1 | c.399G>T (p.Lys133Asn) c.196G>T c.2G>T n.750G>T n.714G>T | gnomAD v4 |
| 7 | g.19116923C>G | CA367015524 | TWIST1 | c.399G>C (p.Lys133Asn) c.196G>C c.2G>C n.750G>C n.714G>C | |
| 7 | g.19116923C>T | CA454143715 | TWIST1 | c.399G>A (p.Lys133=) c.196G>A c.2G>A n.750G>A n.714G>A | gnomAD v4 |
| 7 | g.19116923_19116924delinsAA | CA915944883 | TWIST1 | c.398_399delinsTT (p.Lys133Ile) c.195_196delinsTT c.1_2delinsTT n.749_750delinsTT n.713_714delinsTT | ClinVar dbSNP |
| 7 | g.19116923_19116924delinsCT | CA1692250534 | TWIST1 | c.398_399delinsAG (p.Lys133=) c.195_196delinsAG c.1_2delinsAG n.749_750delinsAG n.713_714delinsAG | |
| 7 | g.19116923_19116942delinsAATCCGCAGCGCGGCGAACT | CA2695207474 | TWIST1 | c.380_399delinsAGTTCGCCGCGCTGCGGATT (p.Ala127_Lys133delinsGluPheAlaAlaLeuArgIle) c.177_196delinsAGTTCGCCGCGCTGCGGATT n.731_750delinsAGTTCGCCGCGCTGCGGATT n.695_714delinsAGTTCGCCGCGCTGCGGATT | |
| 7 | g.19116924T>A | CA367015525 | TWIST1 | c.398A>T (p.Lys133Met) c.195A>T c.1A>T n.749A>T n.713A>T | |
| 7 | g.19116924T>C | CA367015526 | TWIST1 | c.398A>G (p.Lys133Arg) c.195A>G c.1A>G n.749A>G n.713A>G | |
| 7 | g.19116924T>G | CA367015527 | TWIST1 | c.398A>C (p.Lys133Thr) c.195A>C c.1A>C n.749A>C n.713A>C | |
| 7 | g.19116925T>A | CA367015528 | TWIST1 | c.397A>T (p.Lys133Ter) c.194A>T n.748A>T n.712A>T | ClinVar dbSNP |
| 7 | g.19116925T>C | CA367015529 | TWIST1 | c.397A>G (p.Lys133Glu) c.194A>G n.748A>G n.712A>G | |
| 7 | g.19116925T>G | CA367015530 | TWIST1 | c.397A>C (p.Lys133Gln) c.194A>C n.748A>C n.712A>C | dbSNP gnomAD v4 |
| 7 | g.19116925T= | CA1692250538 | TWIST1 | c.397A= (p.Lys133=) c.194A= n.748A= n.712A= | |
| 7 | g.19116926C>A | CA454143719 | TWIST1 | c.396G>T (p.Arg132=) c.193G>T n.747G>T n.711G>T | dbSNP |
| 7 | g.19116926C= | CA1692250542 | TWIST1 | c.396G= (p.Arg132=) c.193G= n.747G= n.711G= | |
| 7 | g.19116926C>G | CA155466588 | TWIST1 | c.396G>C (p.Arg132=) c.193G>C n.747G>C n.711G>C | dbSNP COSMIC |
| 7 | g.19116926C>T | CA4174490 | TWIST1 | c.396G>A (p.Arg132=) c.193G>A n.747G>A n.711G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116927C>A | CA367015531 | TWIST1 | c.395G>T (p.Arg132Leu) c.192G>T n.746G>T n.710G>T | |
| 7 | g.19116927C= | CA1692250547 | TWIST1 | c.395G= (p.Arg132=) c.192G= n.746G= n.710G= | |
| 7 | g.19116927C>G | CA367015532 | TWIST1 | c.395G>C (p.Arg132Pro) c.192G>C n.746G>C n.710G>C | ClinVar dbSNP |
| 7 | g.19116927C>T | CA367015533 | TWIST1 | c.395G>A (p.Arg132Gln) c.192G>A n.746G>A n.710G>A | |
| 7 | g.19116928G>A | CA367015534 | TWIST1 | c.394C>T (p.Arg132Trp) c.191C>T n.745C>T n.709C>T | |
| 7 | g.19116928G>C | CA367015535 | TWIST1 | c.394C>G (p.Arg132Gly) c.191C>G n.745C>G n.709C>G | |
| 7 | g.19116928G>T | CA454143720 | TWIST1 | c.394C>A (p.Arg132=) c.191C>A n.745C>A n.709C>A | |
| 7 | g.19116929C>A | CA454143722 | TWIST1 | c.393G>T (p.Leu131=) c.190G>T n.744G>T n.708G>T | |
| 7 | g.19116929C>G | CA454143726 | TWIST1 | c.393G>C (p.Leu131=) c.190G>C n.744G>C n.708G>C | |
| 7 | g.19116929C>T | CA454143725 | TWIST1 | c.393G>A (p.Leu131=) c.190G>A n.744G>A n.708G>A | |
| 7 | g.19116930A= | CA1692250554 | TWIST1 | c.392T= (p.Leu131=) c.189T= n.743T= n.707T= | |
| 7 | g.19116930A>C | CA367015537 | TWIST1 | c.392T>G (p.Leu131Arg) c.189T>G n.743T>G n.707T>G | |
| 7 | g.19116930A>G | CA254291 | TWIST1 | c.392T>C (p.Leu131Pro) c.189T>C n.743T>C n.707T>C | ClinVar dbSNP |
| 7 | g.19116930A>T | CA367015536 | TWIST1 | c.392T>A (p.Leu131Gln) c.189T>A n.743T>A n.707T>A | |
| 7 | g.19116931G>A | CA454143727 | TWIST1 | c.391C>T (p.Leu131=) c.188C>T n.742C>T n.706C>T | dbSNP |
| 7 | g.19116931G>C | CA367015538 | TWIST1 | c.391C>G (p.Leu131Val) c.188C>G n.742C>G n.706C>G | |
| 7 | g.19116931G= | CA1692250556 | TWIST1 | c.391C= (p.Leu131=) c.188C= n.742C= n.706C= | |
| 7 | g.19116931G>T | CA367015539 | TWIST1 | c.391C>A (p.Leu131Met) c.188C>A n.742C>A n.706C>A | |
| 7 | g.19116932C>A | CA454143729 | TWIST1 | c.390G>T (p.Ala130=) c.187G>T n.741G>T n.705G>T | |
| 7 | g.19116932C= | CA1692250558 | TWIST1 | c.390G= (p.Ala130=) c.187G= n.741G= n.705G= | |
| 7 | g.19116932C>G | CA4174492 | TWIST1 | c.390G>C (p.Ala130=) c.187G>C n.741G>C n.705G>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116932C>T | CA4174491 | TWIST1 | c.390G>A (p.Ala130=) c.187G>A n.741G>A n.705G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116933G>A | CA367015540 | TWIST1 | c.389C>T (p.Ala130Val) c.186C>T n.740C>T n.704C>T | gnomAD v4 |
| 7 | g.19116933G>C | CA367015541 | TWIST1 | c.389C>G (p.Ala130Gly) c.186C>G n.740C>G n.704C>G | |
| 7 | g.19116933G>T | CA367015542 | TWIST1 | c.389C>A (p.Ala130Glu) c.186C>A n.740C>A n.704C>A | |
| 7 | g.19116934C>A | CA367015543 | TWIST1 | c.388G>T (p.Ala130Ser) c.185G>T n.739G>T n.703G>T | gnomAD v4 |
| 7 | g.19116934C>G | CA367015544 | TWIST1 | c.388G>C (p.Ala130Pro) c.185G>C n.739G>C n.703G>C | ClinVar |
| 7 | g.19116934C>T | CA367015545 | TWIST1 | c.388G>A (p.Ala130Thr) c.185G>A n.739G>A n.703G>A | |
| 7 | g.19116935G>A | CA454143734 | TWIST1 | c.387C>T (p.Ala129=) c.184C>T n.738C>T n.702C>T | COSMIC |
| 7 | g.19116935G>C | CA454143736 | TWIST1 | c.387C>G (p.Ala129=) c.184C>G n.738C>G n.702C>G | |
| 7 | g.19116935G>T | CA454143735 | TWIST1 | c.387C>A (p.Ala129=) c.184C>A n.738C>A n.702C>A | gnomAD v4 |
| 7 | g.19116936G>A | CA367015546 | TWIST1 | c.386C>T (p.Ala129Val) c.183C>T n.737C>T n.701C>T | |
| 7 | g.19116936G>C | CA367015547 | TWIST1 | c.386C>G (p.Ala129Gly) c.183C>G n.737C>G n.701C>G | |
| 7 | g.19116936G= | CA1692250561 | TWIST1 | c.386C= (p.Ala129=) c.183C= n.737C= n.701C= | |
| 7 | g.19116936G>T | CA367015548 | TWIST1 | c.386C>A (p.Ala129Asp) c.183C>A n.737C>A n.701C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116937C>A | CA367015550 | TWIST1 | c.385G>T (p.Ala129Ser) c.182G>T n.736G>T n.700G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116937C= | CA1692250565 | TWIST1 | c.385G= (p.Ala129=) c.182G= n.736G= n.700G= | |
| 7 | g.19116937C>G | CA4174493 | TWIST1 | c.385G>C (p.Ala129Pro) c.182G>C n.736G>C n.700G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116937C>T | CA367015549 | TWIST1 | c.385G>A (p.Ala129Thr) c.182G>A n.736G>A n.700G>A | |
| 7 | g.19116938G>A | CA4174494 | TWIST1 | c.384C>T (p.Phe128=) c.181C>T n.735C>T n.699C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116938G>C | CA367015551 | TWIST1 | c.384C>G (p.Phe128Leu) c.181C>G n.735C>G n.699C>G | |
| 7 | g.19116938G= | CA1692250567 | TWIST1 | c.384C= (p.Phe128=) c.181C= n.735C= n.699C= | |
| 7 | g.19116938G>T | CA367015552 | TWIST1 | c.384C>A (p.Phe128Leu) c.181C>A n.735C>A n.699C>A | dbSNP |
| 7 | g.19116938dup | CA1139655103 | TWIST1 | c.384dup (p.Ala129ArgfsTer?) c.181dup n.735dup n.699dup | |
| 7 | g.19116939A>C | CA367015553 | TWIST1 | c.383T>G (p.Phe128Cys) c.180T>G n.734T>G n.698T>G | |
| 7 | g.19116939A>G | CA367015554 | TWIST1 | c.383T>C (p.Phe128Ser) c.180T>C n.734T>C n.698T>C | |
| 7 | g.19116939A>T | CA367015555 | TWIST1 | c.383T>A (p.Phe128Tyr) c.180T>A n.734T>A n.698T>A | |
| 7 | g.19116940A>C | CA367015556 | TWIST1 | c.382T>G (p.Phe128Val) c.179T>G n.733T>G n.697T>G | |
| 7 | g.19116940A>G | CA367015557 | TWIST1 | c.382T>C (p.Phe128Leu) c.179T>C n.733T>C n.697T>C | |
| 7 | g.19116940A>T | CA367015558 | TWIST1 | c.382T>A (p.Phe128Ile) c.179T>A n.733T>A n.697T>A | |
| 7 | g.19116941C>A | CA454143740 | TWIST1 | c.381G>T (p.Ala127=) c.178G>T n.732G>T n.696G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116941C= | CA1692250570 | TWIST1 | c.381G= (p.Ala127=) c.178G= n.732G= n.696G= | |
| 7 | g.19116941C>G | CA454143741 | TWIST1 | c.381G>C (p.Ala127=) c.178G>C n.732G>C n.696G>C | gnomAD v4 |
| 7 | g.19116941C>T | CA454143743 | TWIST1 | c.381G>A (p.Ala127=) c.178G>A n.732G>A n.696G>A | COSMIC |
| 7 | g.19116942_19116944dup | CA2695207475 | TWIST1 | c.379_381dup (p.Ala127_Phe128insAla) c.176_178dup n.730_732dup n.694_696dup | |
| 7 | g.19116942G>A | CA367015559 | TWIST1 | c.380C>T (p.Ala127Val) c.177C>T n.731C>T n.695C>T | COSMIC |
| 7 | g.19116942G>C | CA367015560 | TWIST1 | c.380C>G (p.Ala127Gly) c.177C>G n.731C>G n.695C>G | |
| 7 | g.19116942G>T | CA367015561 | TWIST1 | c.380C>A (p.Ala127Glu) c.177C>A n.731C>A n.695C>A | |
| 7 | g.19116942_19116943delinsTT | CA2580076908 | TWIST1 | c.379_380delinsAA (p.Ala127Lys) c.176_177delinsAA n.730_731delinsAA n.694_695delinsAA | ClinVar |
| 7 | g.19116943C>A | CA367015563 | TWIST1 | c.379G>T (p.Ala127Ser) c.176G>T n.730G>T n.694G>T | |
| 7 | g.19116943C= | CA1692250576 | TWIST1 | c.379G= (p.Ala127=) c.176G= n.730G= n.694G= | |
| 7 | g.19116943C>G | CA367015564 | TWIST1 | c.379G>C (p.Ala127Pro) c.176G>C n.730G>C n.694G>C | |
| 7 | g.19116943C>T | CA367015562 | TWIST1 | c.379G>A (p.Ala127Thr) c.176G>A n.730G>A n.694G>A | ClinVar dbSNP |
| 7 | g.19116944C>A | CA367015565 | TWIST1 | c.378G>T (p.Glu126Asp) c.175G>T n.729G>T n.693G>T | |
| 7 | g.19116944C= | CA1692250584 | TWIST1 | c.378G= (p.Glu126=) c.175G= n.729G= n.693G= | |
| 7 | g.19116944C>G | CA367015566 | TWIST1 | c.378G>C (p.Glu126Asp) c.175G>C n.729G>C n.693G>C | |
| 7 | g.19116944C>T | CA4174495 | TWIST1 | c.378G>A (p.Glu126=) c.175G>A n.729G>A n.693G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.19116945T>A | CA367015567 | TWIST1 | c.377A>T (p.Glu126Val) c.174A>T n.728A>T n.692A>T | gnomAD v4 |
| 7 | g.19116945T>C | CA367015568 | TWIST1 | c.377A>G (p.Glu126Gly) c.174A>G n.728A>G n.692A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116945T>G | CA367015569 | TWIST1 | c.377A>C (p.Glu126Ala) c.174A>C n.728A>C n.692A>C | |
| 7 | g.19116945T= | CA1692250586 | TWIST1 | c.377A= (p.Glu126=) c.174A= n.728A= n.692A= | |
| 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 |
| 7 | g.19116959G= | CA1692250615 | TWIST1 | c.363C= (p.Thr121=) c.160C= n.714C= n.678C= | |
| 7 | g.19116959G>T | CA454143758 | TWIST1 | c.363C>A (p.Thr121=) c.160C>A n.714C>A n.678C>A | gnomAD v4 |
| 7 | g.19116960G>A | CA367015598 | TWIST1 | c.362C>T (p.Thr121Ile) c.159C>T n.713C>T n.677C>T | ClinVar dbSNP |
| 7 | g.19116960G>C | CA367015599 | TWIST1 | c.362C>G (p.Thr121Ser) c.159C>G n.713C>G n.677C>G | |
| 7 | g.19116960G= | CA1692250619 | TWIST1 | c.362C= (p.Thr121=) c.159C= n.713C= n.677C= | |
| 7 | g.19116960G>T | CA367015600 | TWIST1 | c.362C>A (p.Thr121Asn) c.159C>A n.713C>A n.677C>A | |
| 7 | g.19116961T>A | CA367015601 | TWIST1 | c.361A>T (p.Thr121Ser) c.158A>T n.712A>T n.676A>T | |
| 7 | g.19116961T>C | CA367015602 | TWIST1 | c.361A>G (p.Thr121Ala) c.158A>G n.712A>G n.676A>G | |
| 7 | g.19116961T>G | CA367015603 | TWIST1 | c.361A>C (p.Thr121Pro) c.158A>C n.712A>C n.676A>C | ClinVar dbSNP |
| 7 | g.19116961T= | CA1692250623 | TWIST1 | c.361A= (p.Thr121=) c.158A= n.712A= n.676A= | |
| 7 | g.19116962G>A | CA454143760 | TWIST1 | c.360C>T (p.Arg120=) c.157C>T n.711C>T n.675C>T | gnomAD v4 |
| 7 | g.19116962G>C | CA454143761 | TWIST1 | c.360C>G (p.Arg120=) c.157C>G n.711C>G n.675C>G | dbSNP |
| 7 | g.19116962G= | CA1692250626 | TWIST1 | c.360C= (p.Arg120=) c.157C= n.711C= n.675C= | |
| 7 | g.19116962G>T | CA454143762 | TWIST1 | c.360C>A (p.Arg120=) c.157C>A n.711C>A n.675C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116964_19116971del | CA1139655407 | TWIST1 | c.353_360del (p.Arg118HisfsTer?) c.150_157del n.704_711del n.668_675del | |
| 7 | g.19116963C>A | CA367015606 | TWIST1 | c.359G>T (p.Arg120Leu) c.156G>T n.710G>T n.674G>T | |
| 7 | g.19116963C>G | CA367015605 | TWIST1 | c.359G>C (p.Arg120Pro) c.156G>C n.710G>C n.674G>C | |
| 7 | g.19116963C>T | CA367015604 | TWIST1 | c.359G>A (p.Arg120His) c.156G>A n.710G>A n.674G>A | ClinVar |
| 7 | g.19116964G>A | CA367015607 | TWIST1 | c.358C>T (p.Arg120Cys) c.155C>T n.709C>T n.673C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.19116964G>C | CA367015608 | TWIST1 | c.358C>G (p.Arg120Gly) c.155C>G n.709C>G n.673C>G | ClinVar dbSNP |
| 7 | g.19116964G= | CA1692250630 | TWIST1 | c.358C= (p.Arg120=) c.155C= n.709C= n.673C= | |
| 7 | g.19116964G>T | CA367015609 | TWIST1 | c.358C>A (p.Arg120Ser) c.155C>A n.709C>A n.673C>A | gnomAD v4 |
| 7 | g.19116965C>A | CA367015610 | TWIST1 | c.357G>T (p.Gln119His) c.154G>T n.708G>T n.672G>T | |
| 7 | g.19116965C>G | CA367015611 | TWIST1 | c.357G>C (p.Gln119His) c.154G>C n.708G>C n.672G>C | |
| 7 | g.19116965C>T | CA454143765 | TWIST1 | c.357G>A (p.Gln119=) c.154G>A n.708G>A n.672G>A | gnomAD v4 |
| 7 | g.19116965_19116966delinsGG | CA2695207477 | TWIST1 | c.356_357delinsCC (p.Gln119Pro) c.153_154delinsCC n.707_708delinsCC n.671_672delinsCC | |
| 7 | g.19116966T>A | CA367015612 | TWIST1 | c.356A>T (p.Gln119Leu) c.153A>T n.707A>T n.671A>T | |
| 7 | g.19116966T>C | CA367015613 | TWIST1 | c.356A>G (p.Gln119Arg) c.153A>G n.707A>G n.671A>G | dbSNP gnomAD v4 |
| 7 | g.19116966T>G | CA254285 | TWIST1 | c.356A>C (p.Gln119Pro) c.153A>C n.707A>C n.671A>C | ClinVar dbSNP |
| 7 | g.19116966T= | CA1692250632 | TWIST1 | c.356A= (p.Gln119=) c.153A= n.707A= n.671A= | |
| 7 | g.19116967G>A | CA367015614 | TWIST1 | c.355C>T (p.Gln119Ter) c.152C>T n.706C>T n.670C>T | |
| 7 | g.19116967G>C | CA367015615 | TWIST1 | c.355C>G (p.Gln119Glu) c.152C>G n.706C>G n.670C>G | |
| 7 | g.19116967G>T | CA367015616 | TWIST1 | c.355C>A (p.Gln119Lys) c.152C>A n.706C>A n.670C>A | |
| 7 | g.19116968del | CA2695207479 | TWIST1 | c.355del (p.Gln119SerfsTer6) c.152del n.706del n.670del | |
| 7 | g.19116968_19116970del | CA2695207478 | TWIST1 | c.353_355del (p.Arg118del) c.150_152del n.704_706del n.668_670del | |
| 7 | g.19116968G>A | CA454143767 | TWIST1 | c.354C>T (p.Arg118=) c.151C>T n.705C>T n.669C>T | |
| 7 | g.19116968G>C | CA454143768 | TWIST1 | c.354C>G (p.Arg118=) c.151C>G n.705C>G n.669C>G | dbSNP gnomAD v4 |
| 7 | g.19116968G>T | CA454143769 | TWIST1 | c.354C>A (p.Arg118=) c.151C>A n.705C>A n.669C>A | |
| 7 | g.19116969C>A | CA367015617 | TWIST1 | c.353G>T (p.Arg118Leu) c.150G>T n.704G>T n.668G>T | |
| 7 | g.19116969C= | CA1692250636 | TWIST1 | c.353G= (p.Arg118=) c.150G= n.704G= n.668G= | |
| 7 | g.19116969C>G | CA367015618 | TWIST1 | c.353G>C (p.Arg118Pro) c.150G>C n.704G>C n.668G>C | |
| 7 | g.19116969C>T | CA367015619 | TWIST1 | c.353G>A (p.Arg118His) c.150G>A n.704G>A n.668G>A | dbSNP gnomAD v2 |
| 7 | g.19116970G>A | CA367015621 | TWIST1 | c.352C>T (p.Arg118Cys) c.149C>T n.703C>T n.667C>T | COSMIC |
| 7 | g.19116970G>C | CA367015622 | TWIST1 | c.352C>G (p.Arg118Gly) c.149C>G n.703C>G n.667C>G | ClinVar dbSNP |
| 7 | g.19116970G= | CA1692250639 | TWIST1 | c.352C= (p.Arg118=) c.149C= n.703C= n.667C= | |
| 7 | g.19116970G>T | CA367015620 | TWIST1 | c.352C>A (p.Arg118Ser) c.149C>A n.703C>A n.667C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.19116971C>A | CA367015623 | TWIST1 | c.351G>T (p.Glu117Asp) c.148G>T n.702G>T n.666G>T | 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= |