| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 17 | g.61847188T>C | CA501150659 | BRIP1 | c.540A>G (p.Val180=) c.33A>G (p.Val11=) n.2281A>G c.*28A>G (n.*28A>G) c.57A>G (p.Val19=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847188T>G | CA501150658 | BRIP1 | c.540A>C (p.Val180=) c.33A>C (p.Val11=) n.2281A>C c.*28A>C (n.*28A>C) c.57A>C (p.Val19=) | |
| 17 | g.61847188T= | CA2269198553 | BRIP1 | c.540A= (p.Val180=) c.33A= (p.Val11=) n.2281A= c.*28A= (n.*28A=) c.57A= (p.Val19=) | |
| 17 | g.61847189A= | CA2269198554 | BRIP1 | c.539T= (p.Val180=) c.32T= (p.Val11=) n.2280T= c.*27T= (n.*27T=) c.56T= (p.Val19=) | |
| 17 | g.61847189A>C | CA400483231 | BRIP1 | c.539T>G (p.Val180Gly) c.32T>G (p.Val11Gly) n.2280T>G c.*27T>G (n.*27T>G) c.56T>G (p.Val19Gly) | |
| 17 | g.61847189A>G | CA400483232 | BRIP1 | c.539T>C (p.Val180Ala) c.32T>C (p.Val11Ala) n.2280T>C c.*27T>C (n.*27T>C) c.56T>C (p.Val19Ala) | |
| 17 | g.61847189A>T | CA400483234 | BRIP1 | c.539T>A (p.Val180Glu) c.32T>A (p.Val11Glu) n.2280T>A c.*27T>A (n.*27T>A) c.56T>A (p.Val19Glu) | dbSNP |
| 17 | g.61847190C>A | CA400483236 | BRIP1 | c.538G>T (p.Val180Leu) c.31G>T (p.Val11Leu) n.2279G>T c.*26G>T (n.*26G>T) c.55G>T (p.Val19Leu) | |
| 17 | g.61847190C= | CA2269198555 | BRIP1 | c.538G= (p.Val180=) c.31G= (p.Val11=) n.2279G= c.*26G= (n.*26G=) c.55G= (p.Val19=) | |
| 17 | g.61847190C>G | CA400483238 | BRIP1 | c.538G>C (p.Val180Leu) c.31G>C (p.Val11Leu) n.2279G>C c.*26G>C (n.*26G>C) c.55G>C (p.Val19Leu) | ClinVar dbSNP |
| 17 | g.61847190C>T | CA400483240 | BRIP1 | c.538G>A (p.Val180Ile) c.31G>A (p.Val11Ile) n.2279G>A c.*26G>A (n.*26G>A) c.55G>A (p.Val19Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847192_61847194dup | CA913188881 | BRIP1 | c.536_538dup (p.Glu179_Val180insGlu) c.29_31dup (p.Glu10_Val11insGlu) n.2277_2279dup c.*24_*26dup (n.*24_*26dup) c.53_55dup (p.Glu18_Val19insGlu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847191T>A | CA400483243 | BRIP1 | c.537A>T (p.Glu179Asp) c.30A>T (p.Glu10Asp) n.2278A>T c.*25A>T (n.*25A>T) c.54A>T (p.Glu18Asp) | |
| 17 | g.61847191T>C | CA192432 | BRIP1 | c.537A>G (p.Glu179=) c.30A>G (p.Glu10=) n.2278A>G c.*25A>G (n.*25A>G) c.54A>G (p.Glu18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847191T>G | CA400483246 | BRIP1 | c.537A>C (p.Glu179Asp) c.30A>C (p.Glu10Asp) n.2278A>C c.*25A>C (n.*25A>C) c.54A>C (p.Glu18Asp) | |
| 17 | g.61847191T= | CA2269198556 | BRIP1 | c.537A= (p.Glu179=) c.30A= (p.Glu10=) n.2278A= c.*25A= (n.*25A=) c.54A= (p.Glu18=) | |
| 17 | g.61847191_61847193delinsTTC | CA2269198557 | BRIP1 | c.535_537delinsGAA (p.Glu179=) c.28_30delinsGAA (p.Glu10=) n.2276_2278delinsGAA c.*23_*25delinsGAA (n.*23_*25delinsGAA) c.52_54delinsGAA (p.Glu18=) | |
| 17 | g.61847192T>A | CA400483249 | BRIP1 | c.536A>T (p.Glu179Val) c.29A>T (p.Glu10Val) n.2277A>T c.*24A>T (n.*24A>T) c.53A>T (p.Glu18Val) | |
| 17 | g.61847192T>C | CA400483253 | BRIP1 | c.536A>G (p.Glu179Gly) c.29A>G (p.Glu10Gly) n.2277A>G c.*24A>G (n.*24A>G) c.53A>G (p.Glu18Gly) | |
| 17 | g.61847192T>G | CA400483254 | BRIP1 | c.536A>C (p.Glu179Ala) c.29A>C (p.Glu10Ala) n.2277A>C c.*24A>C (n.*24A>C) c.53A>C (p.Glu18Ala) | |
| 17 | g.61847193_61847194dup | CA2580094493 | BRIP1 | c.535_536dup (p.Val180LysfsTer15) c.28_29dup (p.Val11LysfsTer15) n.2276_2277dup c.*23_*24dup (n.*23_*24dup) c.52_53dup (p.Val19LysfsTer15) | ClinVar |
| 17 | g.61847193_61847194del | CA626817030 | BRIP1 | c.535_536del (p.Glu179SerfsTer9) c.28_29del (p.Glu10SerfsTer9) n.2276_2277del c.*23_*24del (n.*23_*24del) c.52_53del (p.Glu18SerfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847192_61847202del | CA2580094495 | BRIP1 | c.526_536del (p.Phe176SerfsTer9) c.19_29del (p.Phe7SerfsTer9) n.2267_2277del c.*14_*24del (n.*14_*24del) c.43_53del (p.Phe15SerfsTer9) | ClinVar |
| 17 | g.61847193C>A | CA400483260 | BRIP1 | c.535G>T (p.Glu179Ter) c.28G>T (p.Glu10Ter) n.2276G>T c.*23G>T (n.*23G>T) c.52G>T (p.Glu18Ter) | ClinVar dbSNP |
| 17 | g.61847193C= | CA2269198558 | BRIP1 | c.535G= (p.Glu179=) c.28G= (p.Glu10=) n.2276G= c.*23G= (n.*23G=) c.52G= (p.Glu18=) | |
| 17 | g.61847193C>G | CA400483257 | BRIP1 | c.535G>C (p.Glu179Gln) c.28G>C (p.Glu10Gln) n.2276G>C c.*23G>C (n.*23G>C) c.52G>C (p.Glu18Gln) | dbSNP |
| 17 | g.61847193C>T | CA400483259 | BRIP1 | c.535G>A (p.Glu179Lys) c.28G>A (p.Glu10Lys) n.2276G>A c.*23G>A (n.*23G>A) c.52G>A (p.Glu18Lys) | dbSNP |
| 17 | g.61847194T>A | CA501150660 | BRIP1 | c.534A>T (p.Thr178=) c.27A>T (p.Thr9=) n.2275A>T c.*22A>T (n.*22A>T) c.51A>T (p.Thr17=) |