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