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.19116770G>A | CA454066763 | TWIST1 | c.552C>T (p.Ser184=) c.349C>T c.155C>T n.903C>T n.867C>T | |
| 7 | g.19116770G>C | CA367015184 | TWIST1 | c.552C>G (p.Ser184Arg) c.349C>G c.155C>G n.903C>G n.867C>G | |
| 7 | g.19116770G>T | CA367015185 | TWIST1 | c.552C>A (p.Ser184Arg) c.349C>A c.155C>A n.903C>A n.867C>A | |
| 7 | g.19116771C>A | CA367015186 | TWIST1 | c.551G>T (p.Ser184Ile) c.348G>T c.154G>T n.902G>T n.866G>T | COSMIC |
| 7 | g.19116771C>G | CA367015187 | TWIST1 | c.551G>C (p.Ser184Thr) c.348G>C c.154G>C n.902G>C n.866G>C | |
| 7 | g.19116771C>T | CA367015188 | TWIST1 | c.551G>A (p.Ser184Asn) c.348G>A c.154G>A n.902G>A n.866G>A | |
| 7 | g.19116772T>A | CA367015189 | TWIST1 | c.550A>T (p.Ser184Cys) c.347A>T c.153A>T n.901A>T n.865A>T | |
| 7 | g.19116772T>C | CA367015190 | TWIST1 | c.550A>G (p.Ser184Gly) c.347A>G c.153A>G n.901A>G n.865A>G | COSMIC |
| 7 | g.19116772T>G | CA367015191 | TWIST1 | c.550A>C (p.Ser184Arg) c.347A>C c.153A>C n.901A>C n.865A>C | |
| 7 | g.19116773G>A | CA454066764 | TWIST1 | c.549C>T (p.Leu183=) c.346C>T c.152C>T n.900C>T n.864C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19116773G>C | CA454066765 | TWIST1 | c.549C>G (p.Leu183=) c.346C>G c.152C>G n.900C>G n.864C>G | |
| 7 | g.19116773G= | CA1692250231 | TWIST1 | c.549C= (p.Leu183=) c.346C= c.152C= n.900C= n.864C= | |
| 7 | g.19116773G>T | CA454066766 | TWIST1 | c.549C>A (p.Leu183=) c.346C>A c.152C>A n.900C>A n.864C>A | |
| 7 | g.19116774A>C | CA367015193 | TWIST1 | c.548T>G (p.Leu183Arg) c.345T>G c.151T>G n.899T>G n.863T>G | |
| 7 | g.19116774A>G | CA367015194 | TWIST1 | c.548T>C (p.Leu183Pro) c.345T>C c.151T>C n.899T>C n.863T>C | |
| 7 | g.19116774A>T | CA367015192 | TWIST1 | c.548T>A (p.Leu183His) c.345T>A c.151T>A n.899T>A n.863T>A | |
| 7 | g.19116775G>A | CA367015195 | TWIST1 | c.547C>T (p.Leu183Phe) c.344C>T c.150C>T n.898C>T n.862C>T | |
| 7 | g.19116775G>C | CA367015196 | TWIST1 | c.547C>G (p.Leu183Val) c.344C>G c.150C>G n.898C>G n.862C>G | |
| 7 | g.19116775G>T | CA367015197 | TWIST1 | c.547C>A (p.Leu183Ile) c.344C>A c.150C>A n.898C>A n.862C>A | |
| 7 | g.19116776C>A | CA4174465 | TWIST1 | c.546G>T (p.Arg182=) c.343G>T c.149G>T n.897G>T n.861G>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.19116776C= | CA1692250234 | TWIST1 | c.546G= (p.Arg182=) c.343G= c.149G= n.897G= n.861G= | |
| 7 | g.19116776C>G | CA155466572 | TWIST1 | c.546G>C (p.Arg182=) c.343G>C c.149G>C n.897G>C n.861G>C | dbSNP |
| 7 | g.19116776C>T | CA454066767 | TWIST1 | c.546G>A (p.Arg182=) c.343G>A c.149G>A n.897G>A n.861G>A | |
| 7 | g.19116777C>A | CA367015200 | TWIST1 | c.545G>T (p.Arg182Leu) c.342G>T c.148G>T n.896G>T n.860G>T | ClinVar |
| 7 | g.19116777C>G | CA367015199 | TWIST1 | c.545G>C (p.Arg182Pro) c.342G>C c.148G>C n.896G>C n.860G>C | |
| 7 | g.19116777C>T | CA367015198 | TWIST1 | c.545G>A (p.Arg182Gln) c.342G>A c.148G>A n.896G>A n.860G>A | |
| 7 | g.19116778G>A | CA367015201 | TWIST1 | c.544C>T (p.Arg182Trp) c.341C>T c.147C>T n.895C>T n.859C>T | COSMIC |
| 7 | g.19116778G>C | CA367015202 | TWIST1 | c.544C>G (p.Arg182Gly) c.341C>G c.147C>G n.895C>G n.859C>G | |
| 7 | g.19116778G>T | CA454066768 | TWIST1 | c.544C>A (p.Arg182=) c.341C>A c.147C>A n.895C>A n.859C>A | |
| 7 | g.19116779C>A | CA367015203 | TWIST1 | c.543G>T (p.Glu181Asp) c.340G>T c.146G>T n.894G>T n.858G>T | |
| 7 | g.19116779C>G | CA367015204 | TWIST1 | c.543G>C (p.Glu181Asp) c.340G>C c.146G>C n.894G>C n.858G>C | |
| 7 | g.19116779C>T | CA454066769 | TWIST1 | c.543G>A (p.Glu181=) c.340G>A c.146G>A n.894G>A n.858G>A | gnomAD v4 |
| 7 | g.19116780T>A | CA367015205 | TWIST1 | c.542A>T (p.Glu181Val) c.339A>T c.145A>T n.893A>T n.857A>T | |
| 7 | g.19116780T>C | CA367015206 | TWIST1 | c.542A>G (p.Glu181Gly) c.339A>G c.145A>G n.893A>G n.857A>G | COSMIC |
| 7 | g.19116780T>G | CA367015207 | TWIST1 | c.542A>C (p.Glu181Ala) c.339A>C c.145A>C n.893A>C n.857A>C | |
| 7 | g.19116781C>A | CA254292 | TWIST1 | c.541G>T (p.Glu181Ter) c.338G>T c.144G>T n.892G>T n.856G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.19116781C= | CA1692250241 | TWIST1 | c.541G= (p.Glu181=) c.338G= c.144G= n.892G= n.856G= | |
| 7 | g.19116781C>G | CA4174466 | TWIST1 | c.541G>C (p.Glu181Gln) c.338G>C c.144G>C n.892G>C n.856G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116781C>T | CA155466573 | TWIST1 | c.541G>A (p.Glu181Lys) c.338G>A c.144G>A n.892G>A n.856G>A | dbSNP gnomAD v4 COSMIC |
| 7 | g.19116782G>A | CA454066770 | TWIST1 | c.540C>T (p.His180=) c.337C>T c.143C>T n.891C>T n.855C>T | |
| 7 | g.19116782G>C | CA367015208 | TWIST1 | c.540C>G (p.His180Gln) c.337C>G c.143C>G n.891C>G n.855C>G | |
| 7 | g.19116782G>T | CA367015209 | TWIST1 | c.540C>A (p.His180Gln) c.337C>A c.143C>A n.891C>A n.855C>A | |
| 7 | g.19116783T>A | CA367015210 | TWIST1 | c.539A>T (p.His180Leu) c.336A>T c.142A>T n.890A>T n.854A>T | |
| 7 | g.19116783T>C | CA367015211 | TWIST1 | c.539A>G (p.His180Arg) c.336A>G c.142A>G n.890A>G n.854A>G | |
| 7 | g.19116783T>G | CA367015212 | TWIST1 | c.539A>C (p.His180Pro) c.336A>C c.142A>C n.890A>C n.854A>C | gnomAD v3 gnomAD v4 |
| 7 | g.19116784G>A | CA367015213 | TWIST1 | c.538C>T (p.His180Tyr) c.335C>T c.141C>T n.889C>T n.853C>T | |
| 7 | g.19116784G>C | CA4174467 | TWIST1 | c.538C>G (p.His180Asp) c.335C>G c.141C>G n.889C>G n.853C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19116784G= | CA1692250246 | TWIST1 | c.538C= (p.His180=) c.335C= c.141C= n.889C= n.853C= | |
| 7 | g.19116784G>T | CA367015214 | TWIST1 | c.538C>A (p.His180Asn) c.335C>A c.141C>A n.889C>A n.853C>A | |
| 7 | g.19116785A= | CA1692250250 | TWIST1 | c.537T= (p.Ala179=) c.334T= c.140T= n.888T= n.852T= |