UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.19116871G>A | CA454143501 | TWIST1 | c.451C>T (p.Leu151=) c.248C>T c.54C>T n.802C>T n.766C>T | gnomAD v4 |
| 7 | g.19116871G>C | CA367015408 | TWIST1 | c.451C>G (p.Leu151Val) c.248C>G c.54C>G n.802C>G n.766C>G | ClinVar dbSNP |
| 7 | g.19116871G>T | CA367015409 | TWIST1 | c.451C>A (p.Leu151Met) c.248C>A c.54C>A n.802C>A n.766C>A | |
| 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 |