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 |
|---|---|---|---|---|---|
| 8 | g.63072982A>C | CA371333745 | TTPA | c.311T>G (p.Leu104Arg) n.232+12836T>G c.205-8666T>G (n.205-8666T>G) | |
| 8 | g.63072982A>G | CA371333746 | TTPA | c.311T>C (p.Leu104Pro) n.232+12836T>C c.205-8666T>C (n.205-8666T>C) | |
| 8 | g.63072982A>T | CA371333747 | TTPA | c.311T>A (p.Leu104Gln) n.232+12836T>A c.205-8666T>A (n.205-8666T>A) | |
| 8 | g.63072983G>A | CA4763280 | TTPA | c.310C>T (p.Leu104=) n.232+12835C>T c.205-8667C>T (n.205-8667C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63072983G>C | CA371333749 | TTPA | c.310C>G (p.Leu104Val) n.232+12835C>G c.205-8667C>G (n.205-8667C>G) | gnomAD v4 |
| 8 | g.63072983G= | CA1788938327 | TTPA | c.310C= (p.Leu104=) n.232+12835C= c.205-8667C= (n.205-8667C=) | |
| 8 | g.63072983G>T | CA371333748 | TTPA | c.310C>A (p.Leu104Met) n.232+12835C>A c.205-8667C>A (n.205-8667C>A) | |
| 8 | g.63072983_63072991delinsGGACTCCAT | CA1788938328 | TTPA | c.302_310delinsATGGAGTCC (p.His101=) n.232+12827_232+12835delinsATGGAGTCC c.205-8675_205-8667delinsATGGAGTCC (n.205-8675_205-8667delinsATGGAGTCC) | |
| 8 | g.63072984G>A | CA4763281 | TTPA | c.309C>T (p.Val103=) n.232+12834C>T c.205-8668C>T (n.205-8668C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63072984G>C | CA461144492 | TTPA | c.309C>G (p.Val103=) n.232+12834C>G c.205-8668C>G (n.205-8668C>G) | |
| 8 | g.63072984G= | CA1788938330 | TTPA | c.309C= (p.Val103=) n.232+12834C= c.205-8668C= (n.205-8668C=) | |
| 8 | g.63072984G>T | CA461144491 | TTPA | c.309C>A (p.Val103=) n.232+12834C>A c.205-8668C>A (n.205-8668C>A) | |
| 8 | g.63072985_63072992del | CA1788938329 | TTPA | c.302_309del (p.His101ProfsTer28) n.232+12827_232+12834del c.205-8675_205-8668del (n.205-8675_205-8668del) | ClinVar dbSNP gnomAD v4 |
| 8 | g.63072985A>C | CA371333752 | TTPA | c.308T>G (p.Val103Gly) n.232+12833T>G c.205-8669T>G (n.205-8669T>G) | |
| 8 | g.63072985A>G | CA371333750 | TTPA | c.308T>C (p.Val103Ala) n.232+12833T>C c.205-8669T>C (n.205-8669T>C) | |
| 8 | g.63072985A>T | CA371333751 | TTPA | c.308T>A (p.Val103Asp) n.232+12833T>A c.205-8669T>A (n.205-8669T>A) | |
| 8 | g.63072986C>A | CA371333753 | TTPA | c.307G>T (p.Val103Phe) n.232+12832G>T c.205-8670G>T (n.205-8670G>T) | |
| 8 | g.63072986C>G | CA371333754 | TTPA | c.307G>C (p.Val103Leu) n.232+12832G>C c.205-8670G>C (n.205-8670G>C) | |
| 8 | g.63072986C>T | CA371333755 | TTPA | c.307G>A (p.Val103Ile) n.232+12832G>A c.205-8670G>A (n.205-8670G>A) | gnomAD v4 |
| 8 | g.63072987T>A | CA461144493 | TTPA | c.306A>T (p.Gly102=) n.232+12831A>T c.205-8671A>T (n.205-8671A>T) | |
| 8 | g.63072987T>C | CA461144494 | TTPA | c.306A>G (p.Gly102=) n.232+12831A>G c.205-8671A>G (n.205-8671A>G) | |
| 8 | g.63072987T>G | CA461144495 | TTPA | c.306A>C (p.Gly102=) n.232+12831A>C c.205-8671A>C (n.205-8671A>C) | |
| 8 | g.63072988C>A | CA371333756 | TTPA | c.305G>T (p.Gly102Val) n.232+12830G>T c.205-8672G>T (n.205-8672G>T) | |
| 8 | g.63072988C>G | CA371333757 | TTPA | c.305G>C (p.Gly102Ala) n.232+12830G>C c.205-8672G>C (n.205-8672G>C) | |
| 8 | g.63072988C>T | CA371333758 | TTPA | c.305G>A (p.Gly102Glu) n.232+12830G>A c.205-8672G>A (n.205-8672G>A) | |
| 8 | g.63072989C>A | CA371333759 | TTPA | c.304G>T (p.Gly102Ter) n.232+12829G>T c.205-8673G>T (n.205-8673G>T) | |
| 8 | g.63072989C>G | CA371333760 | TTPA | c.304G>C (p.Gly102Arg) n.232+12829G>C c.205-8673G>C (n.205-8673G>C) | |
| 8 | g.63072989C>T | CA371333761 | TTPA | c.304G>A (p.Gly102Arg) n.232+12829G>A c.205-8673G>A (n.205-8673G>A) | |
| 8 | g.63072990A= | CA1788938331 | TTPA | c.303T= (p.His101=) n.232+12828T= c.205-8674T= (n.205-8674T=) | |
| 8 | g.63072990A>C | CA120135 | TTPA | c.303T>G (p.His101Gln) n.232+12828T>G c.205-8674T>G (n.205-8674T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63072990A>G | CA461144496 | TTPA | c.303T>C (p.His101=) n.232+12828T>C c.205-8674T>C (n.205-8674T>C) | gnomAD v4 |
| 8 | g.63072990A>T | CA371333762 | TTPA | c.303T>A (p.His101Gln) n.232+12828T>A c.205-8674T>A (n.205-8674T>A) | |
| 8 | g.63072991T>A | CA371333765 | TTPA | c.302A>T (p.His101Leu) n.232+12827A>T c.205-8675A>T (n.205-8675A>T) | |
| 8 | g.63072991T>C | CA371333763 | TTPA | c.302A>G (p.His101Arg) n.232+12827A>G c.205-8675A>G (n.205-8675A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.63072991T>G | CA371333764 | TTPA | c.302A>C (p.His101Pro) n.232+12827A>C c.205-8675A>C (n.205-8675A>C) | |
| 8 | g.63072991T= | CA1788938332 | TTPA | c.302A= (p.His101=) n.232+12827A= c.205-8675A= (n.205-8675A=) | |
| 8 | g.63072992G>A | CA371333766 | TTPA | c.301C>T (p.His101Tyr) n.232+12826C>T c.205-8676C>T (n.205-8676C>T) | |
| 8 | g.63072992G>C | CA371333767 | TTPA | c.301C>G (p.His101Asp) n.232+12826C>G c.205-8676C>G (n.205-8676C>G) | |
| 8 | g.63072992G>T | CA371333768 | TTPA | c.301C>A (p.His101Asn) n.232+12826C>A c.205-8676C>A (n.205-8676C>A) | |
| 8 | g.63072993G>A | CA461144497 | TTPA | c.300C>T (p.Tyr100=) n.232+12825C>T c.205-8677C>T (n.205-8677C>T) | gnomAD v4 COSMIC |
| 8 | g.63072993G>C | CA371333769 | TTPA | c.300C>G (p.Tyr100Ter) n.232+12825C>G c.205-8677C>G (n.205-8677C>G) | |
| 8 | g.63072993G>T | CA371333770 | TTPA | c.300C>A (p.Tyr100Ter) n.232+12825C>A c.205-8677C>A (n.205-8677C>A) | ClinVar dbSNP |
| 8 | g.63072994T>A | CA371333771 | TTPA | c.299A>T (p.Tyr100Phe) n.232+12824A>T c.205-8678A>T (n.205-8678A>T) | |
| 8 | g.63072994T>C | CA371333772 | TTPA | c.299A>G (p.Tyr100Cys) n.232+12824A>G c.205-8678A>G (n.205-8678A>G) | dbSNP gnomAD v4 |
| 8 | g.63072994T>G | CA371333773 | TTPA | c.299A>C (p.Tyr100Ser) n.232+12824A>C c.205-8678A>C (n.205-8678A>C) | gnomAD v4 |
| 8 | g.63072995A>C | CA371333774 | TTPA | c.298T>G (p.Tyr100Asp) n.232+12823T>G c.205-8679T>G (n.205-8679T>G) | |
| 8 | g.63072995A>G | CA371333775 | TTPA | c.298T>C (p.Tyr100His) n.232+12823T>C c.205-8679T>C (n.205-8679T>C) | |
| 8 | g.63072995A>T | CA371333776 | TTPA | c.298T>A (p.Tyr100Asn) n.232+12823T>A c.205-8679T>A (n.205-8679T>A) | |
| 8 | g.63072996G>A | CA461144498 | TTPA | c.297C>T (p.Gly99=) n.232+12822C>T c.205-8680C>T (n.205-8680C>T) | |
| 8 | g.63072996G>C | CA461144500 | TTPA | c.297C>G (p.Gly99=) n.232+12822C>G c.205-8680C>G (n.205-8680C>G) |