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