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 |
|---|---|---|---|---|---|
| 17 | g.61847174G>A | CA400483144 | BRIP1 | c.554C>T (p.Ala185Val) c.47C>T (p.Ala16Val) n.2295C>T c.*42C>T (n.*42C>T) c.71C>T (p.Ala24Val) | ClinVar |
| 17 | g.61847174G>C | CA400483146 | BRIP1 | c.554C>G (p.Ala185Gly) c.47C>G (p.Ala16Gly) n.2295C>G c.*42C>G (n.*42C>G) c.71C>G (p.Ala24Gly) | |
| 17 | g.61847174G>T | CA400483142 | BRIP1 | c.554C>A (p.Ala185Glu) c.47C>A (p.Ala16Glu) n.2295C>A c.*42C>A (n.*42C>A) c.71C>A (p.Ala24Glu) | |
| 17 | g.61847175C>A | CA400483149 | BRIP1 | c.553G>T (p.Ala185Ser) c.46G>T (p.Ala16Ser) n.2294G>T c.*41G>T (n.*41G>T) c.70G>T (p.Ala24Ser) | |
| 17 | g.61847175C= | CA2269198547 | BRIP1 | c.553G= (p.Ala185=) c.46G= (p.Ala16=) n.2294G= c.*41G= (n.*41G=) c.70G= (p.Ala24=) | |
| 17 | g.61847175C>G | CA400483150 | BRIP1 | c.553G>C (p.Ala185Pro) c.46G>C (p.Ala16Pro) n.2294G>C c.*41G>C (n.*41G>C) c.70G>C (p.Ala24Pro) | dbSNP |
| 17 | g.61847175C>T | CA8690910 | BRIP1 | c.553G>A (p.Ala185Thr) c.46G>A (p.Ala16Thr) n.2294G>A c.*41G>A (n.*41G>A) c.70G>A (p.Ala24Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847176A>C | CA400483154 | BRIP1 | c.552T>G (p.Asp184Glu) c.45T>G (p.Asp15Glu) n.2293T>G c.*40T>G (n.*40T>G) c.69T>G (p.Asp23Glu) | |
| 17 | g.61847176A>G | CA501150652 | BRIP1 | c.552T>C (p.Asp184=) c.45T>C (p.Asp15=) n.2293T>C c.*40T>C (n.*40T>C) c.69T>C (p.Asp23=) | |
| 17 | g.61847176A>T | CA400483157 | BRIP1 | c.552T>A (p.Asp184Glu) c.45T>A (p.Asp15Glu) n.2293T>A c.*40T>A (n.*40T>A) c.69T>A (p.Asp23Glu) | dbSNP gnomAD v4 |
| 17 | g.61847177T>A | CA400483164 | BRIP1 | c.551A>T (p.Asp184Val) c.44A>T (p.Asp15Val) n.2292A>T c.*39A>T (n.*39A>T) c.68A>T (p.Asp23Val) | |
| 17 | g.61847177T>C | CA400483160 | BRIP1 | c.551A>G (p.Asp184Gly) c.44A>G (p.Asp15Gly) n.2292A>G c.*39A>G (n.*39A>G) c.68A>G (p.Asp23Gly) | gnomAD v4 |
| 17 | g.61847177T>G | CA400483162 | BRIP1 | c.551A>C (p.Asp184Ala) c.44A>C (p.Asp15Ala) n.2292A>C c.*39A>C (n.*39A>C) c.68A>C (p.Asp23Ala) | ClinVar |
| 17 | g.61847178C>A | CA294540 | BRIP1 | c.550G>T (p.Asp184Tyr) c.43G>T (p.Asp15Tyr) n.2291G>T c.*38G>T (n.*38G>T) c.67G>T (p.Asp23Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847178C= | CA2269198548 | BRIP1 | c.550G= (p.Asp184=) c.43G= (p.Asp15=) n.2291G= c.*38G= (n.*38G=) c.67G= (p.Asp23=) | |
| 17 | g.61847178C>G | CA400483168 | BRIP1 | c.550G>C (p.Asp184His) c.43G>C (p.Asp15His) n.2291G>C c.*38G>C (n.*38G>C) c.67G>C (p.Asp23His) | dbSNP |
| 17 | g.61847178C>T | CA195893 | BRIP1 | c.550G>A (p.Asp184Asn) c.43G>A (p.Asp15Asn) n.2291G>A c.*38G>A (n.*38G>A) c.67G>A (p.Asp23Asn) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847179C>A | CA400483172 | BRIP1 | c.549G>T (p.Leu183Phe) c.42G>T (p.Leu14Phe) n.2290G>T c.*37G>T (n.*37G>T) c.66G>T (p.Leu22Phe) | |
| 17 | g.61847179C= | CA2269198549 | BRIP1 | c.549G= (p.Leu183=) c.42G= (p.Leu14=) n.2290G= c.*37G= (n.*37G=) c.66G= (p.Leu22=) | |
| 17 | g.61847179C>G | CA400483174 | BRIP1 | c.549G>C (p.Leu183Phe) c.42G>C (p.Leu14Phe) n.2290G>C c.*37G>C (n.*37G>C) c.66G>C (p.Leu22Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847179C>T | CA16615541 | BRIP1 | c.549G>A (p.Leu183=) c.42G>A (p.Leu14=) n.2290G>A c.*37G>A (n.*37G>A) c.66G>A (p.Leu22=) | ClinVar dbSNP |
| 17 | g.61847179_61847180delinsCA | CA2269198550 | BRIP1 | c.548_549delinsTG (p.Leu183=) c.41_42delinsTG (p.Leu14=) n.2289_2290delinsTG c.*36_*37delinsTG (n.*36_*37delinsTG) c.65_66delinsTG (p.Leu22=) | |
| 17 | g.61847180A>C | CA400483178 | BRIP1 | c.548T>G (p.Leu183Trp) c.41T>G (p.Leu14Trp) n.2289T>G c.*36T>G (n.*36T>G) c.65T>G (p.Leu22Trp) | |
| 17 | g.61847180A>G | CA400483182 | BRIP1 | c.548T>C (p.Leu183Ser) c.41T>C (p.Leu14Ser) n.2289T>C c.*36T>C (n.*36T>C) c.65T>C (p.Leu22Ser) | |
| 17 | g.61847180A>T | CA400483179 | BRIP1 | c.548T>A (p.Leu183Ter) c.41T>A (p.Leu14Ter) n.2289T>A c.*36T>A (n.*36T>A) c.65T>A (p.Leu22Ter) | ClinVar |
| 17 | g.61847182del | CA16615832 | BRIP1 | c.548del (p.Leu183TrpfsTer11) c.41del (p.Leu14TrpfsTer11) n.2289del c.*36del (n.*36del) c.65del (p.Leu22TrpfsTer11) | ClinVar dbSNP |
| 17 | g.61847181A>C | CA400483185 | BRIP1 | c.547T>G (p.Leu183Val) c.40T>G (p.Leu14Val) n.2288T>G c.*35T>G (n.*35T>G) c.64T>G (p.Leu22Val) | |
| 17 | g.61847181A>G | CA501150654 | BRIP1 | c.547T>C (p.Leu183=) c.40T>C (p.Leu14=) n.2288T>C c.*35T>C (n.*35T>C) c.64T>C (p.Leu22=) | ClinVar |
| 17 | g.61847181A>T | CA400483187 | BRIP1 | c.547T>A (p.Leu183Met) c.40T>A (p.Leu14Met) n.2288T>A c.*35T>A (n.*35T>A) c.64T>A (p.Leu22Met) | |
| 17 | g.61847182A>C | CA400483190 | BRIP1 | c.546T>G (p.Asn182Lys) c.39T>G (p.Asn13Lys) n.2287T>G c.*34T>G (n.*34T>G) c.63T>G (p.Asn21Lys) | |
| 17 | g.61847182A>G | CA501150655 | BRIP1 | c.546T>C (p.Asn182=) c.39T>C (p.Asn13=) n.2287T>C c.*34T>C (n.*34T>C) c.63T>C (p.Asn21=) | |
| 17 | g.61847182A>T | CA400483192 | BRIP1 | c.546T>A (p.Asn182Lys) c.39T>A (p.Asn13Lys) n.2287T>A c.*34T>A (n.*34T>A) c.63T>A (p.Asn21Lys) | dbSNP |
| 17 | g.61847183T>A | CA400483196 | BRIP1 | c.545A>T (p.Asn182Ile) c.38A>T (p.Asn13Ile) n.2286A>T c.*33A>T (n.*33A>T) c.62A>T (p.Asn21Ile) | |
| 17 | g.61847183T>C | CA400483197 | BRIP1 | c.545A>G (p.Asn182Ser) c.38A>G (p.Asn13Ser) n.2286A>G c.*33A>G (n.*33A>G) c.62A>G (p.Asn21Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847183T>G | CA400483199 | BRIP1 | c.545A>C (p.Asn182Thr) c.38A>C (p.Asn13Thr) n.2286A>C c.*33A>C (n.*33A>C) c.62A>C (p.Asn21Thr) | |
| 17 | g.61847184T>A | CA400483202 | BRIP1 | c.544A>T (p.Asn182Tyr) c.37A>T (p.Asn13Tyr) n.2285A>T c.*32A>T (n.*32A>T) c.61A>T (p.Asn21Tyr) | dbSNP |
| 17 | g.61847184T>C | CA400483204 | BRIP1 | c.544A>G (p.Asn182Asp) c.37A>G (p.Asn13Asp) n.2285A>G c.*32A>G (n.*32A>G) c.61A>G (p.Asn21Asp) | |
| 17 | g.61847184T>G | CA400483207 | BRIP1 | c.544A>C (p.Asn182His) c.37A>C (p.Asn13His) n.2285A>C c.*32A>C (n.*32A>C) c.61A>C (p.Asn21His) | ClinVar |
| 17 | g.61847185G>A | CA501150656 | BRIP1 | c.543C>T (p.His181=) c.36C>T (p.His12=) n.2284C>T c.*31C>T (n.*31C>T) c.60C>T (p.His20=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847185G>C | CA400483209 | BRIP1 | c.543C>G (p.His181Gln) c.36C>G (p.His12Gln) n.2284C>G c.*31C>G (n.*31C>G) c.60C>G (p.His20Gln) | |
| 17 | g.61847185G= | CA2269198551 | BRIP1 | c.543C= (p.His181=) c.36C= (p.His12=) n.2284C= c.*31C= (n.*31C=) c.60C= (p.His20=) | |
| 17 | g.61847185G>T | CA400483212 | BRIP1 | c.543C>A (p.His181Gln) c.36C>A (p.His12Gln) n.2284C>A c.*31C>A (n.*31C>A) c.60C>A (p.His20Gln) | ClinVar gnomAD v4 |
| 17 | g.61847186T>A | CA400483219 | BRIP1 | c.542A>T (p.His181Leu) c.35A>T (p.His12Leu) n.2283A>T c.*30A>T (n.*30A>T) c.59A>T (p.His20Leu) | |
| 17 | g.61847186T>C | CA400483217 | BRIP1 | c.542A>G (p.His181Arg) c.35A>G (p.His12Arg) n.2283A>G c.*30A>G (n.*30A>G) c.59A>G (p.His20Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847186T>G | CA400483215 | BRIP1 | c.542A>C (p.His181Pro) c.35A>C (p.His12Pro) n.2283A>C c.*30A>C (n.*30A>C) c.59A>C (p.His20Pro) | |
| 17 | g.61847186T= | CA2269198552 | BRIP1 | c.542A= (p.His181=) c.35A= (p.His12=) n.2283A= c.*30A= (n.*30A=) c.59A= (p.His20=) | |
| 17 | g.61847187G>A | CA400483225 | BRIP1 | c.541C>T (p.His181Tyr) c.34C>T (p.His12Tyr) n.2282C>T c.*29C>T (n.*29C>T) c.58C>T (p.His20Tyr) | dbSNP |
| 17 | g.61847187G>C | CA400483223 | BRIP1 | c.541C>G (p.His181Asp) c.34C>G (p.His12Asp) n.2282C>G c.*29C>G (n.*29C>G) c.58C>G (p.His20Asp) | dbSNP |
| 17 | g.61847187G>T | CA400483227 | BRIP1 | c.541C>A (p.His181Asn) c.34C>A (p.His12Asn) n.2282C>A c.*29C>A (n.*29C>A) c.58C>A (p.His20Asn) | |
| 17 | g.61847188T>A | CA501150657 | BRIP1 | c.540A>T (p.Val180=) c.33A>T (p.Val11=) n.2281A>T c.*28A>T (n.*28A>T) c.57A>T (p.Val19=) | dbSNP |