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