Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.61857067T>A | CA400485281 | BRIP1 | c.370A>T (p.Thr124Ser) n.2111A>T c.73A>T (p.Thr25Ser) c.15A>T (p.Gln5His) | dbSNP |
17 | g.61857067T>C | CA298931 | BRIP1 | c.370A>G (p.Thr124Ala) n.2111A>G c.73A>G (p.Thr25Ala) c.15A>G (p.Gln5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61857067T>G | CA192862 | BRIP1 | c.370A>C (p.Thr124Pro) n.2111A>C c.73A>C (p.Thr25Pro) c.15A>C (p.Gln5His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61857067T= | CA2269202730 | BRIP1 | c.370A= (p.Thr124=) n.2111A= c.73A= (p.Thr25=) c.15A= (p.Gln5=) | |
17 | g.61857068T>A | CA501151195 | BRIP1 | c.369A>T (p.Ser123=) n.2110A>T c.72A>T (p.Ser24=) c.14A>T (p.Gln5Leu) | dbSNP |
17 | g.61857068T>C | CA501151196 | BRIP1 | c.369A>G (p.Ser123=) n.2110A>G c.72A>G (p.Ser24=) c.14A>G (p.Gln5Arg) | |
17 | g.61857068T>G | CA501151197 | BRIP1 | c.369A>C (p.Ser123=) n.2110A>C c.72A>C (p.Ser24=) c.14A>C (p.Gln5Pro) | |
17 | g.61857069G>A | CA400485282 | BRIP1 | c.368C>T (p.Ser123Leu) n.2109C>T c.71C>T (p.Ser24Leu) c.13C>T (p.Gln5Ter) | dbSNP COSMIC COSMIC |
17 | g.61857069G>C | CA400485283 | BRIP1 | c.368C>G (p.Ser123Ter) n.2109C>G c.71C>G (p.Ser24Ter) c.13C>G (p.Gln5Glu) | dbSNP |
17 | g.61857069G>T | CA400485284 | BRIP1 | c.368C>A (p.Ser123Ter) n.2109C>A c.71C>A (p.Ser24Ter) c.13C>A (p.Gln5Lys) | ClinVar dbSNP |
17 | g.61857070A>C | CA400485285 | BRIP1 | c.367T>G (p.Ser123Ala) n.2108T>G c.70T>G (p.Ser24Ala) c.12T>G (p.His4Gln) | |
17 | g.61857070A>G | CA400485287 | BRIP1 | c.367T>C (p.Ser123Pro) n.2108T>C c.70T>C (p.Ser24Pro) c.12T>C (p.His4=) | |
17 | g.61857070A>T | CA400485286 | BRIP1 | c.367T>A (p.Ser123Thr) n.2108T>A c.70T>A (p.Ser24Thr) c.12T>A (p.His4Gln) | dbSNP |
17 | g.61857071T>A | CA501151199 | BRIP1 | c.366A>T (p.Ser122=) n.2107A>T c.69A>T (p.Ser23=) c.11A>T (p.His4Leu) | ClinVar dbSNP |
17 | g.61857071T>C | CA501151200 | BRIP1 | c.366A>G (p.Ser122=) n.2107A>G c.69A>G (p.Ser23=) c.11A>G (p.His4Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.61857071T>G | CA501151201 | BRIP1 | c.366A>C (p.Ser122=) n.2107A>C c.69A>C (p.Ser23=) c.11A>C (p.His4Pro) | |
17 | g.61857071T= | CA2269202731 | BRIP1 | c.366A= (p.Ser122=) n.2107A= c.69A= (p.Ser23=) c.11A= (p.His4=) | |
17 | g.61857072G>A | CA400485288 | BRIP1 | c.365C>T (p.Ser122Leu) n.2106C>T c.68C>T (p.Ser23Leu) c.10C>T (p.His4Tyr) | ClinVar dbSNP |
17 | g.61857072G>C | CA400485289 | BRIP1 | c.365C>G (p.Ser122Ter) n.2106C>G c.68C>G (p.Ser23Ter) c.10C>G (p.His4Asp) | dbSNP |
17 | g.61857072G>T | CA400485290 | BRIP1 | c.365C>A (p.Ser122Ter) n.2106C>A c.68C>A (p.Ser23Ter) c.10C>A (p.His4Asn) | |
17 | g.61857073A= | CA2269202732 | BRIP1 | c.364T= (p.Ser122=) n.2105T= c.67T= (p.Ser23=) c.9T= (p.Leu3=) | |
17 | g.61857073A>C | CA400485291 | BRIP1 | c.364T>G (p.Ser122Ala) n.2105T>G c.67T>G (p.Ser23Ala) c.9T>G (p.Leu3=) | ClinVar dbSNP |
17 | g.61857073A>G | CA400485292 | BRIP1 | c.364T>C (p.Ser122Pro) n.2105T>C c.67T>C (p.Ser23Pro) c.9T>C (p.Leu3=) | gnomAD v4 |
17 | g.61857073A>T | CA400485293 | BRIP1 | c.364T>A (p.Ser122Thr) n.2105T>A c.67T>A (p.Ser23Thr) c.9T>A (p.Leu3=) | dbSNP |
17 | g.61857074A= | CA2269202733 | BRIP1 | c.363T= (p.Thr121=) n.2104T= c.66T= (p.Thr22=) c.8T= (p.Leu3=) | |
17 | g.61857074A>C | CA501151205 | BRIP1 | c.363T>G (p.Thr121=) n.2104T>G c.66T>G (p.Thr22=) c.8T>G (p.Leu3Arg) | |
17 | g.61857074A>G | CA501151207 | BRIP1 | c.363T>C (p.Thr121=) n.2104T>C c.66T>C (p.Thr22=) c.8T>C (p.Leu3Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.61857074A>T | CA10580883 | BRIP1 | c.363T>A (p.Thr121=) n.2104T>A c.66T>A (p.Thr22=) c.8T>A (p.Leu3His) | ClinVar dbSNP gnomAD v4 |
17 | g.61857075G>A | CA400485294 | BRIP1 | c.362C>T (p.Thr121Ile) n.2103C>T c.65C>T (p.Thr22Ile) c.7C>T (p.Leu3Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.61857075G>C | CA8690958 | BRIP1 | c.362C>G (p.Thr121Ser) n.2103C>G c.65C>G (p.Thr22Ser) c.7C>G (p.Leu3Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61857075G= | CA2269202734 | BRIP1 | c.362C= (p.Thr121=) n.2103C= c.65C= (p.Thr22=) c.7C= (p.Leu3=) | |
17 | g.61857075G>T | CA400485295 | BRIP1 | c.362C>A (p.Thr121Asn) n.2103C>A c.65C>A (p.Thr22Asn) c.7C>A (p.Leu3Ile) | |
17 | g.61857075_61857082dup | CA2573154322 | BRIP1 | c.355_362dup (p.Ser122MetfsTer?) n.2096_2103dup c.58_65dup (p.Ser23MetfsTer?) c.-1_7dup (p.Leu3GlnfsTer33) | ClinVar dbSNP gnomAD v4 |
17 | g.61857076T>A | CA400485297 | BRIP1 | c.361A>T (p.Thr121Ser) n.2102A>T c.64A>T (p.Thr22Ser) c.6A>T (p.Ala2=) | dbSNP |
17 | g.61857076T>C | CA400485298 | BRIP1 | c.361A>G (p.Thr121Ala) n.2102A>G c.64A>G (p.Thr22Ala) c.6A>G (p.Ala2=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.61857076T>G | CA400485296 | BRIP1 | c.361A>C (p.Thr121Pro) n.2102A>C c.64A>C (p.Thr22Pro) c.6A>C (p.Ala2=) | |
17 | g.61857076T= | CA2269202735 | BRIP1 | c.361A= (p.Thr121=) n.2102A= c.64A= (p.Thr22=) c.6A= (p.Ala2=) | |
17 | g.61857076_61857079dup | CA891844431 | BRIP1 | c.358_361dup (p.Thr121ArgfsTer11) n.2099_2102dup c.61_64dup (p.Thr22ArgfsTer?) c.3_6dup (p.Leu3GlyfsTer9) | ClinVar dbSNP |
17 | g.61857077G>A | CA16615833 | BRIP1 | c.360C>T (p.Gly120=) n.2101C>T c.63C>T (p.Gly21=) c.5C>T (p.Ala2Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.61857077G>C | CA501151210 | BRIP1 | c.360C>G (p.Gly120=) n.2101C>G c.63C>G (p.Gly21=) c.5C>G (p.Ala2Gly) | |
17 | g.61857077G= | CA2269202736 | BRIP1 | c.360C= (p.Gly120=) n.2101C= c.63C= (p.Gly21=) c.5C= (p.Ala2=) | |
17 | g.61857077G>T | CA501151212 | BRIP1 | c.360C>A (p.Gly120=) n.2101C>A c.63C>A (p.Gly21=) c.5C>A (p.Ala2Glu) | |
17 | g.61857078C>A | CA400485299 | BRIP1 | c.359G>T (p.Gly120Val) n.2100G>T c.62G>T (p.Gly21Val) c.4G>T (p.Ala2Ser) | ClinVar dbSNP |
17 | g.61857078C= | CA2269202737 | BRIP1 | c.359G= (p.Gly120=) n.2100G= c.62G= (p.Gly21=) c.4G= (p.Ala2=) | |
17 | g.61857078C>G | CA400485300 | BRIP1 | c.359G>C (p.Gly120Ala) n.2100G>C c.62G>C (p.Gly21Ala) c.4G>C (p.Ala2Pro) | dbSNP |
17 | g.61857078C>T | CA298884 | BRIP1 | c.359G>A (p.Gly120Asp) n.2100G>A c.62G>A (p.Gly21Asp) c.4G>A (p.Ala2Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.61857079C>A | CA400485301 | BRIP1 | c.358G>T (p.Gly120Cys) n.2099G>T c.61G>T (p.Gly21Cys) c.3G>T (p.Met1Ile) | dbSNP |
17 | g.61857079C>G | CA400485302 | BRIP1 | c.358G>C (p.Gly120Arg) n.2099G>C c.61G>C (p.Gly21Arg) c.3G>C (p.Met1Ile) | dbSNP |
17 | g.61857079C>T | CA400485303 | BRIP1 | c.358G>A (p.Gly120Ser) n.2099G>A c.61G>A (p.Gly21Ser) c.3G>A (p.Met1Ile) | dbSNP |
17 | g.61857080A= | CA2269202738 | BRIP1 | c.357T= (p.Asn119=) n.2098T= c.60T= (p.Asn20=) c.2T= (p.Met1=) |