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 |
|---|---|---|---|---|---|
| 10 | g.43120084G>A | CA008940 | RET | c.2215G>A (p.Val739Ile) n.2185G>A n.2176G>A c.2611G>A (p.Val871Ile) c.*1205G>A (n.*1205G>A) c.1337G>A (p.Arg446His) c.1849G>A (p.Val617Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.43120084G>C | CA376556957 | RET | c.2215G>C (p.Val739Leu) n.2185G>C n.2176G>C c.2611G>C (p.Val871Leu) c.*1205G>C (n.*1205G>C) c.1337G>C (p.Arg446Pro) c.1849G>C (p.Val617Leu) | ClinVar dbSNP |
| 10 | g.43120084G= | CA1905819823 | RET | c.2215G= (p.Val739=) n.2185G= n.2176G= c.2611G= (p.Val871=) c.*1205G= (n.*1205G=) c.1337G= (p.Arg446=) c.1849G= (p.Val617=) | |
| 10 | g.43120084G>T | CA376556959 | RET | c.2215G>T (p.Val739Phe) n.2185G>T n.2176G>T c.2611G>T (p.Val871Phe) c.*1205G>T (n.*1205G>T) c.1337G>T (p.Arg446Leu) c.1849G>T (p.Val617Phe) | |
| 10 | g.43120085T>A | CA376556961 | RET | c.2216T>A (p.Val739Asp) n.2186T>A n.2177T>A c.2612T>A (p.Val871Asp) c.*1206T>A (n.*1206T>A) c.1338T>A (p.Arg446=) c.1850T>A (p.Val617Asp) | dbSNP |
| 10 | g.43120085T>C | CA376556963 | RET | c.2216T>C (p.Val739Ala) n.2186T>C n.2177T>C c.2612T>C (p.Val871Ala) c.*1206T>C (n.*1206T>C) c.1338T>C (p.Arg446=) c.1850T>C (p.Val617Ala) | dbSNP |
| 10 | g.43120085T>G | CA376556965 | RET | c.2216T>G (p.Val739Gly) n.2186T>G n.2177T>G c.2612T>G (p.Val871Gly) c.*1206T>G (n.*1206T>G) c.1338T>G (p.Arg446=) c.1850T>G (p.Val617Gly) | dbSNP |
| 10 | g.43120086T>A | CA376556971 | RET | c.2217T>A (p.Val739=) n.2187T>A n.2178T>A c.2613T>A (p.Val871=) c.*1207T>A (n.*1207T>A) c.1339T>A (p.Ser447Thr) c.1851T>A (p.Val617=) | |
| 10 | g.43120086T>C | CA376556967 | RET | c.2217T>C (p.Val739=) n.2187T>C n.2178T>C c.2613T>C (p.Val871=) c.*1207T>C (n.*1207T>C) c.1339T>C (p.Ser447Pro) c.1851T>C (p.Val617=) | |
| 10 | g.43120086T>G | CA376556969 | RET | c.2217T>G (p.Val739=) n.2187T>G n.2178T>G c.2613T>G (p.Val871=) c.*1207T>G (n.*1207T>G) c.1339T>G (p.Ser447Ala) c.1851T>G (p.Val617=) | |
| 10 | g.43120087C>A | CA376556973 | RET | c.2218C>A (p.His740Asn) n.2188C>A n.2179C>A c.2614C>A (p.His872Asn) c.*1208C>A (n.*1208C>A) c.1340C>A (p.Ser447Ter) c.1852C>A (p.His618Asn) | |
| 10 | g.43120087C>G | CA376556975 | RET | c.2218C>G (p.His740Asp) n.2188C>G n.2179C>G c.2614C>G (p.His872Asp) c.*1208C>G (n.*1208C>G) c.1340C>G (p.Ser447Ter) c.1852C>G (p.His618Asp) | |
| 10 | g.43120087C>T | CA376556977 | RET | c.2218C>T (p.His740Tyr) n.2188C>T n.2179C>T c.2614C>T (p.His872Tyr) c.*1208C>T (n.*1208C>T) c.1340C>T (p.Ser447Leu) c.1852C>T (p.His618Tyr) | |
| 10 | g.43120088A>C | CA376556979 | RET | c.2219A>C (p.His740Pro) n.2189A>C n.2180A>C c.2615A>C (p.His872Pro) c.*1209A>C (n.*1209A>C) c.1341A>C (p.Ser447=) c.1853A>C (p.His618Pro) | dbSNP |
| 10 | g.43120088A>G | CA376556981 | RET | c.2219A>G (p.His740Arg) n.2189A>G n.2180A>G c.2615A>G (p.His872Arg) c.*1209A>G (n.*1209A>G) c.1341A>G (p.Ser447=) c.1853A>G (p.His618Arg) | |
| 10 | g.43120088A>T | CA376556982 | RET | c.2219A>T (p.His740Leu) n.2189A>T n.2180A>T c.2615A>T (p.His872Leu) c.*1209A>T (n.*1209A>T) c.1341A>T (p.Ser447=) c.1853A>T (p.His618Leu) | dbSNP |
| 10 | g.43120089T>A | CA376556984 | RET | c.2220T>A (p.His740Gln) n.2190T>A n.2181T>A c.2616T>A (p.His872Gln) c.*1210T>A (n.*1210T>A) c.1342T>A (p.Ser448Thr) c.1854T>A (p.His618Gln) | dbSNP |
| 10 | g.43120089T>C | CA376556985 | RET | c.2220T>C (p.His740=) n.2190T>C n.2181T>C c.2616T>C (p.His872=) c.*1210T>C (n.*1210T>C) c.1342T>C (p.Ser448Pro) c.1854T>C (p.His618=) | ClinVar dbSNP |
| 10 | g.43120089T>G | CA376556986 | RET | c.2220T>G (p.His740Gln) n.2190T>G n.2181T>G c.2616T>G (p.His872Gln) c.*1210T>G (n.*1210T>G) c.1342T>G (p.Ser448Ala) c.1854T>G (p.His618Gln) | |
| 10 | g.43120090C>A | CA376556988 | RET | c.2221C>A (p.Arg741=) n.2191C>A n.2182C>A c.2617C>A (p.Arg873=) c.*1211C>A (n.*1211C>A) c.1343C>A (p.Ser448Ter) c.1855C>A (p.Arg619=) | ClinVar dbSNP |
| 10 | g.43120090C= | CA1905819826 | RET | c.2221C= (p.Arg741=) n.2191C= n.2182C= c.2617C= (p.Arg873=) c.*1211C= (n.*1211C=) c.1343C= (p.Ser448=) c.1855C= (p.Arg619=) | |
| 10 | g.43120090C>G | CA376556990 | RET | c.2221C>G (p.Arg741Gly) n.2191C>G n.2182C>G c.2617C>G (p.Arg873Gly) c.*1211C>G (n.*1211C>G) c.1343C>G (p.Ser448Trp) c.1855C>G (p.Arg619Gly) | dbSNP |
| 10 | g.43120090C>T | CA376556992 | RET | c.2221C>T (p.Arg741Trp) n.2191C>T n.2182C>T c.2617C>T (p.Arg873Trp) c.*1211C>T (n.*1211C>T) c.1343C>T (p.Ser448Leu) c.1855C>T (p.Arg619Trp) | ClinVar COSMIC |
| 10 | g.43120091G>A | CA376556995 | RET | c.2222G>A (p.Arg741Gln) n.2192G>A n.2183G>A c.2618G>A (p.Arg873Gln) c.*1212G>A (n.*1212G>A) c.1344G>A (p.Ser448=) c.1856G>A (p.Arg619Gln) | dbSNP gnomAD v2 |
| 10 | g.43120091G>C | CA376556996 | RET | c.2222G>C (p.Arg741Pro) n.2192G>C n.2183G>C c.2618G>C (p.Arg873Pro) c.*1212G>C (n.*1212G>C) c.1344G>C (p.Ser448=) c.1856G>C (p.Arg619Pro) | dbSNP |
| 10 | g.43120091G= | CA1905819828 | RET | c.2222G= (p.Arg741=) n.2192G= n.2183G= c.2618G= (p.Arg873=) c.*1212G= (n.*1212G=) c.1344G= (p.Ser448=) c.1856G= (p.Arg619=) | |
| 10 | g.43120091G>T | CA376556993 | RET | c.2222G>T (p.Arg741Leu) n.2192G>T n.2183G>T c.2618G>T (p.Arg873Leu) c.*1212G>T (n.*1212G>T) c.1344G>T (p.Ser448=) c.1856G>T (p.Arg619Leu) | dbSNP |
| 10 | g.43120092G>A | CA376557001 | RET | c.2223G>A (p.Arg741=) n.2193G>A n.2184G>A c.2619G>A (p.Arg873=) c.*1213G>A (n.*1213G>A) c.1345G>A (p.Gly449Arg) c.1857G>A (p.Arg619=) | ClinVar dbSNP |
| 10 | g.43120092G>C | CA376556997 | RET | c.2223G>C (p.Arg741=) n.2193G>C n.2184G>C c.2619G>C (p.Arg873=) c.*1213G>C (n.*1213G>C) c.1345G>C (p.Gly449Arg) c.1857G>C (p.Arg619=) | dbSNP |
| 10 | g.43120092G>T | CA376556999 | RET | c.2223G>T (p.Arg741=) n.2193G>T n.2184G>T c.2619G>T (p.Arg873=) c.*1213G>T (n.*1213G>T) c.1345G>T (p.Gly449Ter) c.1857G>T (p.Arg619=) | dbSNP |
| 10 | g.43120093G>A | CA376557003 | RET | c.2224G>A (p.Asp742Asn) n.2194G>A n.2185G>A c.2620G>A (p.Asp874Asn) c.*1214G>A (n.*1214G>A) c.1346G>A (p.Gly449Glu) c.1858G>A (p.Asp620Asn) | dbSNP |
| 10 | g.43120093G>C | CA376557005 | RET | c.2224G>C (p.Asp742His) n.2194G>C n.2185G>C c.2620G>C (p.Asp874His) c.*1214G>C (n.*1214G>C) c.1346G>C (p.Gly449Ala) c.1858G>C (p.Asp620His) | dbSNP |
| 10 | g.43120093G>T | CA376557007 | RET | c.2224G>T (p.Asp742Tyr) n.2194G>T n.2185G>T c.2620G>T (p.Asp874Tyr) c.*1214G>T (n.*1214G>T) c.1346G>T (p.Gly449Val) c.1858G>T (p.Asp620Tyr) | |
| 10 | g.43120094A>C | CA376557009 | RET | c.2225A>C (p.Asp742Ala) n.2195A>C n.2186A>C c.2621A>C (p.Asp874Ala) c.*1215A>C (n.*1215A>C) c.1347A>C (p.Gly449=) c.1859A>C (p.Asp620Ala) | dbSNP |
| 10 | g.43120094A>G | CA376557010 | RET | c.2225A>G (p.Asp742Gly) n.2195A>G n.2186A>G c.2621A>G (p.Asp874Gly) c.*1215A>G (n.*1215A>G) c.1347A>G (p.Gly449=) c.1859A>G (p.Asp620Gly) | dbSNP |
| 10 | g.43120094A>T | CA376557012 | RET | c.2225A>T (p.Asp742Val) n.2195A>T n.2186A>T c.2621A>T (p.Asp874Val) c.*1215A>T (n.*1215A>T) c.1347A>T (p.Gly449=) c.1859A>T (p.Asp620Val) | dbSNP |
| 10 | g.43120095C>A | CA376557013 | RET | c.2226C>A (p.Asp742Glu) n.2196C>A n.2187C>A c.2622C>A (p.Asp874Glu) c.*1216C>A (n.*1216C>A) c.1348C>A (p.Leu450Ile) c.1860C>A (p.Asp620Glu) | |
| 10 | g.43120095C>G | CA376557015 | RET | c.2226C>G (p.Asp742Glu) n.2196C>G n.2187C>G c.2622C>G (p.Asp874Glu) c.*1216C>G (n.*1216C>G) c.1348C>G (p.Leu450Val) c.1860C>G (p.Asp620Glu) | |
| 10 | g.43120095C>T | CA376557017 | RET | c.2226C>T (p.Asp742=) n.2196C>T n.2187C>T c.2622C>T (p.Asp874=) c.*1216C>T (n.*1216C>T) c.1348C>T (p.Leu450Phe) c.1860C>T (p.Asp620=) | ClinVar |
| 10 | g.43120096T>A | CA376557021 | RET | c.2227T>A (p.Leu743Met) n.2197T>A n.2188T>A c.2623T>A (p.Leu875Met) c.*1217T>A (n.*1217T>A) c.1349T>A (p.Leu450His) c.1861T>A (p.Leu621Met) | dbSNP |
| 10 | g.43120096T>C | CA376557020 | RET | c.2227T>C (p.Leu743=) n.2197T>C n.2188T>C c.2623T>C (p.Leu875=) c.*1217T>C (n.*1217T>C) c.1349T>C (p.Leu450Pro) c.1861T>C (p.Leu621=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43120096T>G | CA376557018 | RET | c.2227T>G (p.Leu743Val) n.2197T>G n.2188T>G c.2623T>G (p.Leu875Val) c.*1217T>G (n.*1217T>G) c.1349T>G (p.Leu450Arg) c.1861T>G (p.Leu621Val) | ClinVar dbSNP gnomAD v4 |
| 10 | g.43120096T= | CA1905819831 | RET | c.2227T= (p.Leu743=) n.2197T= n.2188T= c.2623T= (p.Leu875=) c.*1217T= (n.*1217T=) c.1349T= (p.Leu450=) c.1861T= (p.Leu621=) | |
| 10 | g.43120097T>A | CA376557023 | RET | c.2228T>A (p.Leu743Ter) n.2198T>A n.2189T>A c.2624T>A (p.Leu875Ter) c.*1218T>A (n.*1218T>A) c.1350T>A (p.Leu450=) c.1862T>A (p.Leu621Ter) | |
| 10 | g.43120097T>C | CA376557025 | RET | c.2228T>C (p.Leu743Ser) n.2198T>C n.2189T>C c.2624T>C (p.Leu875Ser) c.*1218T>C (n.*1218T>C) c.1350T>C (p.Leu450=) c.1862T>C (p.Leu621Ser) | |
| 10 | g.43120097T>G | CA376557027 | RET | c.2228T>G (p.Leu743Trp) n.2198T>G n.2189T>G c.2624T>G (p.Leu875Trp) c.*1218T>G (n.*1218T>G) c.1350T>G (p.Leu450=) c.1862T>G (p.Leu621Trp) | |
| 10 | g.43120098G>A | CA376557029 | RET | c.2229G>A (p.Leu743=) n.2199G>A n.2190G>A c.2625G>A (p.Leu875=) c.*1219G>A (n.*1219G>A) c.1351G>A (p.Gly451Ser) c.1863G>A (p.Leu621=) | dbSNP |
| 10 | g.43120098G>C | CA376557031 | RET | c.2229G>C (p.Leu743Phe) n.2199G>C n.2190G>C c.2625G>C (p.Leu875Phe) c.*1219G>C (n.*1219G>C) c.1351G>C (p.Gly451Arg) c.1863G>C (p.Leu621Phe) | |
| 10 | g.43120098G>T | CA376557033 | RET | c.2229G>T (p.Leu743Phe) n.2199G>T n.2190G>T c.2625G>T (p.Leu875Phe) c.*1219G>T (n.*1219G>T) c.1351G>T (p.Gly451Cys) c.1863G>T (p.Leu621Phe) | dbSNP |
| 10 | g.43120099G>A | CA376557036 | RET | c.2230G>A (p.Ala744Thr) n.2200G>A n.2191G>A c.2626G>A (p.Ala876Thr) c.*1220G>A (n.*1220G>A) c.1352G>A (p.Gly451Asp) c.1864G>A (p.Ala622Thr) | dbSNP |