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