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 |
|---|---|---|---|---|---|
| 18 | g.31598635C>A | CA402158243 | TTR | c.404C>A (p.Ser135Tyr) c.308C>A (p.Ser103Tyr) c.518C>A (p.Ser173Tyr) c.380C>A (p.Ser127Tyr) | |
| 18 | g.31598635C>G | CA402158244 | TTR | c.404C>G (p.Ser135Cys) c.308C>G (p.Ser103Cys) c.518C>G (p.Ser173Cys) c.380C>G (p.Ser127Cys) | |
| 18 | g.31598635C>T | CA402158245 | TTR | c.404C>T (p.Ser135Phe) c.308C>T (p.Ser103Phe) c.518C>T (p.Ser173Phe) c.380C>T (p.Ser127Phe) | COSMIC |
| 18 | g.31598636C>A | CA503610930 | TTR | c.405C>A (p.Ser135=) c.309C>A (p.Ser103=) c.519C>A (p.Ser173=) c.381C>A (p.Ser127=) | |
| 18 | g.31598636C= | CA2293889363 | TTR | c.405C= (p.Ser135=) c.309C= (p.Ser103=) c.519C= (p.Ser173=) c.381C= (p.Ser127=) | |
| 18 | g.31598636C>G | CA8928509 | TTR | c.405C>G (p.Ser135=) c.309C>G (p.Ser103=) c.519C>G (p.Ser173=) c.381C>G (p.Ser127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598636C>T | CA503610931 | TTR | c.405C>T (p.Ser135=) c.309C>T (p.Ser103=) c.519C>T (p.Ser173=) c.381C>T (p.Ser127=) | dbSNP gnomAD v4 COSMIC |
| 18 | g.31598637T>A | CA402158246 | TTR | c.406T>A (p.Tyr136Asn) c.310T>A (p.Tyr104Asn) c.520T>A (p.Tyr174Asn) c.382T>A (p.Tyr128Asn) | |
| 18 | g.31598637T>C | CA8928510 | TTR | c.406T>C (p.Tyr136His) c.310T>C (p.Tyr104His) c.520T>C (p.Tyr174His) c.382T>C (p.Tyr128His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31598637T>G | CA402158247 | TTR | c.406T>G (p.Tyr136Asp) c.310T>G (p.Tyr104Asp) c.520T>G (p.Tyr174Asp) c.382T>G (p.Tyr128Asp) | |
| 18 | g.31598637T= | CA2293889364 | TTR | c.406T= (p.Tyr136=) c.310T= (p.Tyr104=) c.520T= (p.Tyr174=) c.382T= (p.Tyr128=) | |
| 18 | g.31598638A= | CA2293889365 | TTR | c.407A= (p.Tyr136=) c.311A= (p.Tyr104=) c.521A= (p.Tyr174=) c.383A= (p.Tyr128=) | |
| 18 | g.31598638A>C | CA297535 | TTR | c.407A>C (p.Tyr136Ser) c.311A>C (p.Tyr104Ser) c.521A>C (p.Tyr174Ser) c.383A>C (p.Tyr128Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31598638A>G | CA402158248 | TTR | c.407A>G (p.Tyr136Cys) c.311A>G (p.Tyr104Cys) c.521A>G (p.Tyr174Cys) c.383A>G (p.Tyr128Cys) | COSMIC |
| 18 | g.31598638A>T | CA402158249 | TTR | c.407A>T (p.Tyr136Phe) c.311A>T (p.Tyr104Phe) c.521A>T (p.Tyr174Phe) c.383A>T (p.Tyr128Phe) | |
| 18 | g.31598639T>A | CA402158251 | TTR | c.408T>A (p.Tyr136Ter) c.312T>A (p.Tyr104Ter) c.522T>A (p.Tyr174Ter) c.384T>A (p.Tyr128Ter) | |
| 18 | g.31598639T>C | CA503610933 | TTR | c.408T>C (p.Tyr136=) c.312T>C (p.Tyr104=) c.522T>C (p.Tyr174=) c.384T>C (p.Tyr128=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598639T>G | CA402158250 | TTR | c.408T>G (p.Tyr136Ter) c.312T>G (p.Tyr104Ter) c.522T>G (p.Tyr174Ter) c.384T>G (p.Tyr128Ter) | ClinVar |
| 18 | g.31598639T= | CA2293889366 | TTR | c.408T= (p.Tyr136=) c.312T= (p.Tyr104=) c.522T= (p.Tyr174=) c.384T= (p.Tyr128=) | |
| 18 | g.31598640T>A | CA8928511 | TTR | c.409T>A (p.Ser137Thr) c.313T>A (p.Ser105Thr) c.523T>A (p.Ser175Thr) c.385T>A (p.Ser129Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598640T>C | CA402158252 | TTR | c.409T>C (p.Ser137Pro) c.313T>C (p.Ser105Pro) c.523T>C (p.Ser175Pro) c.385T>C (p.Ser129Pro) | |
| 18 | g.31598640T>G | CA402158253 | TTR | c.409T>G (p.Ser137Ala) c.313T>G (p.Ser105Ala) c.523T>G (p.Ser175Ala) c.385T>G (p.Ser129Ala) | |
| 18 | g.31598640T= | CA2293889367 | TTR | c.409T= (p.Ser137=) c.313T= (p.Ser105=) c.523T= (p.Ser175=) c.385T= (p.Ser129=) | |
| 18 | g.31598641C>A | CA402158254 | TTR | c.410C>A (p.Ser137Tyr) c.314C>A (p.Ser105Tyr) c.524C>A (p.Ser175Tyr) c.386C>A (p.Ser129Tyr) | |
| 18 | g.31598641C>G | CA402158255 | TTR | c.410C>G (p.Ser137Cys) c.314C>G (p.Ser105Cys) c.524C>G (p.Ser175Cys) c.386C>G (p.Ser129Cys) | |
| 18 | g.31598641C>T | CA402158256 | TTR | c.410C>T (p.Ser137Phe) c.314C>T (p.Ser105Phe) c.524C>T (p.Ser175Phe) c.386C>T (p.Ser129Phe) | |
| 18 | g.31598642C>A | CA503610935 | TTR | c.411C>A (p.Ser137=) c.315C>A (p.Ser105=) c.525C>A (p.Ser175=) c.387C>A (p.Ser129=) | |
| 18 | g.31598642C= | CA2293889368 | TTR | c.411C= (p.Ser137=) c.315C= (p.Ser105=) c.525C= (p.Ser175=) c.387C= (p.Ser129=) | |
| 18 | g.31598642C>G | CA503610936 | TTR | c.411C>G (p.Ser137=) c.315C>G (p.Ser105=) c.525C>G (p.Ser175=) c.387C>G (p.Ser129=) | |
| 18 | g.31598642C>T | CA8928512 | TTR | c.411C>T (p.Ser137=) c.315C>T (p.Ser105=) c.525C>T (p.Ser175=) c.387C>T (p.Ser129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598643A>C | CA402158257 | TTR | c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) c.526A>C (p.Thr176Pro) c.388A>C (p.Thr130Pro) | |
| 18 | g.31598643A>G | CA402158258 | TTR | c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) c.526A>G (p.Thr176Ala) c.388A>G (p.Thr130Ala) | |
| 18 | g.31598643A>T | CA402158259 | TTR | c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) c.526A>T (p.Thr176Ser) c.388A>T (p.Thr130Ser) | |
| 18 | g.31598644C>A | CA297741988 | TTR | c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) c.527C>A (p.Thr176Asn) c.389C>A (p.Thr130Asn) | dbSNP |
| 18 | g.31598644C= | CA2293889369 | TTR | c.413C= (p.Thr138=) c.317C= (p.Thr106=) c.527C= (p.Thr176=) c.389C= (p.Thr130=) | |
| 18 | g.31598644C>G | CA402158260 | TTR | c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) c.527C>G (p.Thr176Ser) c.389C>G (p.Thr130Ser) | |
| 18 | g.31598644C>T | CA402158261 | TTR | c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) c.527C>T (p.Thr176Ile) c.389C>T (p.Thr130Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598645C>A | CA503610942 | TTR | c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) c.528C>A (p.Thr176=) c.390C>A (p.Thr130=) | |
| 18 | g.31598645C>G | CA503610943 | TTR | c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) c.528C>G (p.Thr176=) c.390C>G (p.Thr130=) | |
| 18 | g.31598645C>T | CA503610944 | TTR | c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) c.528C>T (p.Thr176=) c.390C>T (p.Thr130=) | |
| 18 | g.31598646A>C | CA402158264 | TTR | c.415A>C (p.Thr139Pro) c.319A>C (p.Thr107Pro) c.529A>C (p.Thr177Pro) c.391A>C (p.Thr131Pro) | |
| 18 | g.31598646A>G | CA402158263 | TTR | c.415A>G (p.Thr139Ala) c.319A>G (p.Thr107Ala) c.529A>G (p.Thr177Ala) c.391A>G (p.Thr131Ala) | |
| 18 | g.31598646A>T | CA402158262 | TTR | c.415A>T (p.Thr139Ser) c.319A>T (p.Thr107Ser) c.529A>T (p.Thr177Ser) c.391A>T (p.Thr131Ser) | |
| 18 | g.31598647C>A | CA402158265 | TTR | c.416C>A (p.Thr139Lys) c.320C>A (p.Thr107Lys) c.530C>A (p.Thr177Lys) c.392C>A (p.Thr131Lys) | |
| 18 | g.31598647C= | CA2293889370 | TTR | c.416C= (p.Thr139=) c.320C= (p.Thr107=) c.530C= (p.Thr177=) c.392C= (p.Thr131=) | |
| 18 | g.31598647C>G | CA402158266 | TTR | c.416C>G (p.Thr139Arg) c.320C>G (p.Thr107Arg) c.530C>G (p.Thr177Arg) c.392C>G (p.Thr131Arg) | |
| 18 | g.31598647C>T | CA123101 | TTR | c.416C>T (p.Thr139Met) c.320C>T (p.Thr107Met) c.530C>T (p.Thr177Met) c.392C>T (p.Thr131Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598648G>A | CA132602 | TTR | c.417G>A (p.Thr139=) c.321G>A (p.Thr107=) c.531G>A (p.Thr177=) c.393G>A (p.Thr131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31598648G>C | CA503610949 | TTR | c.417G>C (p.Thr139=) c.321G>C (p.Thr107=) c.531G>C (p.Thr177=) c.393G>C (p.Thr131=) | |
| 18 | g.31598648G= | CA2293889371 | TTR | c.417G= (p.Thr139=) c.321G= (p.Thr107=) c.531G= (p.Thr177=) c.393G= (p.Thr131=) |