| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61799188_61799210delinsCAAACCGAAGCTGAACTTCTGTT | CA2269178673 | BRIP1 | c.723_745delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val241=) c.1230_1252delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val410=) n.2971_2993delinsAACAGAAGTTCAGCTTCGGTTTG c.1008_1030delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val336=) c.808_830delinsAACAGAAGTTCAGCTTCGGTTTG (n.808_830delinsAACAGAAGTTCAGCTTCGGTTTG) c.747_769delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val249=) c.687_709delinsAACAGAAGTTCAGCTTCGGTTTG (p.Val229=) | |
| 17 | g.61799190_61799211del | CA192794 | BRIP1 | c.723_744del (p.Thr242LeufsTer5) c.1230_1251del (p.Thr411LeufsTer5) n.2971_2992del c.1008_1029del (p.Thr337LeufsTer5) c.808_829del (n.808_829del) c.747_768del (p.Thr250LeufsTer5) c.687_708del (p.Thr230LeufsTer5) | ClinVar dbSNP |
| 17 | g.61799197_61799201dup | CA1139665790 | BRIP1 | c.733_737dup (p.Arg247SerfsTer9) c.1240_1244dup (p.Arg416SerfsTer9) n.2981_2985dup c.1018_1022dup (p.Arg342SerfsTer9) c.818_822dup (n.818_822dup) c.757_761dup (p.Arg255SerfsTer9) c.697_701dup (p.Arg235SerfsTer9) | ClinVar dbSNP |
| 17 | g.61799200G>A | CA165277 | BRIP1 | c.733C>T (p.Gln245Ter) c.1240C>T (p.Gln414Ter) n.2981C>T c.1018C>T (p.Gln340Ter) c.818C>T (n.818C>T) c.757C>T (p.Gln253Ter) c.697C>T (p.Gln233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799200G>C | CA400483622 | BRIP1 | c.733C>G (p.Gln245Glu) c.1240C>G (p.Gln414Glu) n.2981C>G c.1018C>G (p.Gln340Glu) c.818C>G (n.818C>G) c.757C>G (p.Gln253Glu) c.697C>G (p.Gln233Glu) | dbSNP |
| 17 | g.61799200G= | CA2269178681 | BRIP1 | c.733C= (p.Gln245=) c.1240C= (p.Gln414=) n.2981C= c.1018C= (p.Gln340=) c.818C= (n.818C=) c.757C= (p.Gln253=) c.697C= (p.Gln233=) | |
| 17 | g.61799200G>T | CA400483623 | BRIP1 | c.733C>A (p.Gln245Lys) c.1240C>A (p.Gln414Lys) n.2981C>A c.1018C>A (p.Gln340Lys) c.818C>A (n.818C>A) c.757C>A (p.Gln253Lys) c.697C>A (p.Gln233Lys) | |
| 17 | g.61799201A= | CA2269178682 | BRIP1 | c.732T= (p.Val244=) c.1239T= (p.Val413=) n.2980T= c.1017T= (p.Val339=) c.817T= (n.817T=) c.756T= (p.Val252=) c.696T= (p.Val232=) | |
| 17 | g.61799201A>C | CA501151541 | BRIP1 | c.732T>G (p.Val244=) c.1239T>G (p.Val413=) n.2980T>G c.1017T>G (p.Val339=) c.817T>G (n.817T>G) c.756T>G (p.Val252=) c.696T>G (p.Val232=) | |
| 17 | g.61799201A>G | CA501151542 | BRIP1 | c.732T>C (p.Val244=) c.1239T>C (p.Val413=) n.2980T>C c.1017T>C (p.Val339=) c.817T>C (n.817T>C) c.756T>C (p.Val252=) c.696T>C (p.Val232=) | dbSNP |
| 17 | g.61799201A>T | CA501151543 | BRIP1 | c.732T>A (p.Val244=) c.1239T>A (p.Val413=) n.2980T>A c.1017T>A (p.Val339=) c.817T>A (n.817T>A) c.756T>A (p.Val252=) c.696T>A (p.Val232=) | dbSNP |
| 17 | g.61799202A= | CA2269178683 | BRIP1 | c.731T= (p.Val244=) c.1238T= (p.Val413=) n.2979T= c.1016T= (p.Val339=) c.816T= (n.816T=) c.755T= (p.Val252=) c.695T= (p.Val232=) | |
| 17 | g.61799202A>C | CA400483625 | BRIP1 | c.731T>G (p.Val244Gly) c.1238T>G (p.Val413Gly) n.2979T>G c.1016T>G (p.Val339Gly) c.816T>G (n.816T>G) c.755T>G (p.Val252Gly) c.695T>G (p.Val232Gly) | dbSNP |
| 17 | g.61799202A>G | CA8690773 | BRIP1 | c.731T>C (p.Val244Ala) c.1238T>C (p.Val413Ala) n.2979T>C c.1016T>C (p.Val339Ala) c.816T>C (n.816T>C) c.755T>C (p.Val252Ala) c.695T>C (p.Val232Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61799202A>T | CA400483624 | BRIP1 | c.731T>A (p.Val244Asp) c.1238T>A (p.Val413Asp) n.2979T>A c.1016T>A (p.Val339Asp) c.816T>A (n.816T>A) c.755T>A (p.Val252Asp) c.695T>A (p.Val232Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61799203C>A | CA400483626 | BRIP1 | c.730G>T (p.Val244Phe) c.1237G>T (p.Val413Phe) n.2978G>T c.1015G>T (p.Val339Phe) c.815G>T (n.815G>T) c.754G>T (p.Val252Phe) c.694G>T (p.Val232Phe) | dbSNP |
| 17 | g.61799203C>G | CA400483627 | BRIP1 | c.730G>C (p.Val244Leu) c.1237G>C (p.Val413Leu) n.2978G>C c.1015G>C (p.Val339Leu) c.815G>C (n.815G>C) c.754G>C (p.Val252Leu) c.694G>C (p.Val232Leu) | ClinVar dbSNP |
| 17 | g.61799203C>T | CA400483628 | BRIP1 | c.730G>A (p.Val244Ile) c.1237G>A (p.Val413Ile) n.2978G>A c.1015G>A (p.Val339Ile) c.815G>A (n.815G>A) c.754G>A (p.Val252Ile) c.694G>A (p.Val232Ile) | dbSNP |
| 17 | g.61799203_61799204delinsCT | CA2269178684 | BRIP1 | c.729_730delinsAG (p.Glu243=) c.1236_1237delinsAG (p.Glu412=) n.2977_2978delinsAG c.1014_1015delinsAG (p.Glu338=) c.814_815delinsAG (n.814_815delinsAG) c.753_754delinsAG (p.Glu251=) c.693_694delinsAG (p.Glu231=) | |
| 17 | g.61799204T>A | CA400483629 | BRIP1 | c.729A>T (p.Glu243Asp) c.1236A>T (p.Glu412Asp) n.2977A>T c.1014A>T (p.Glu338Asp) c.814A>T (n.814A>T) c.753A>T (p.Glu251Asp) c.693A>T (p.Glu231Asp) | |
| 17 | g.61799204T>C | CA501151546 | BRIP1 | c.729A>G (p.Glu243=) c.1236A>G (p.Glu412=) n.2977A>G c.1014A>G (p.Glu338=) c.814A>G (n.814A>G) c.753A>G (p.Glu251=) c.693A>G (p.Glu231=) | |
| 17 | g.61799204T>G | CA400483630 | BRIP1 | c.729A>C (p.Glu243Asp) c.1236A>C (p.Glu412Asp) n.2977A>C c.1014A>C (p.Glu338Asp) c.814A>C (n.814A>C) c.753A>C (p.Glu251Asp) c.693A>C (p.Glu231Asp) | ClinVar |
| 17 | g.61799205del | CA339406 | BRIP1 | c.729del (p.Val244PhefsTer10) c.1236del (p.Val413PhefsTer10) n.2977del c.1014del (p.Val339PhefsTer10) c.814del (n.814del) c.753del (p.Val252PhefsTer10) c.693del (p.Val232PhefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61799204_61799206delinsTTC | CA2269178685 | BRIP1 | c.727_729delinsGAA (p.Glu243=) c.1234_1236delinsGAA (p.Glu412=) n.2975_2977delinsGAA c.1012_1014delinsGAA (p.Glu338=) c.812_814delinsGAA (n.812_814delinsGAA) c.751_753delinsGAA (p.Glu251=) c.691_693delinsGAA (p.Glu231=) | |
| 17 | g.61799205T>A | CA400483631 | BRIP1 | c.728A>T (p.Glu243Val) c.1235A>T (p.Glu412Val) n.2976A>T c.1013A>T (p.Glu338Val) c.813A>T (n.813A>T) c.752A>T (p.Glu251Val) c.692A>T (p.Glu231Val) | |
| 17 | g.61799205T>C | CA400483632 | BRIP1 | c.728A>G (p.Glu243Gly) c.1235A>G (p.Glu412Gly) n.2976A>G c.1013A>G (p.Glu338Gly) c.813A>G (n.813A>G) c.752A>G (p.Glu251Gly) c.692A>G (p.Glu231Gly) | dbSNP |
| 17 | g.61799205T>G | CA400483633 | BRIP1 | c.728A>C (p.Glu243Ala) c.1235A>C (p.Glu412Ala) n.2976A>C c.1013A>C (p.Glu338Ala) c.813A>C (n.813A>C) c.752A>C (p.Glu251Ala) c.692A>C (p.Glu231Ala) | |
| 17 | g.61799206_61799207del | CA16620536 | BRIP1 | c.727_728del (p.Glu243SerfsTer9) c.1234_1235del (p.Glu412SerfsTer9) n.2975_2976del c.1012_1013del (p.Glu338SerfsTer9) c.812_813del (n.812_813del) c.751_752del (p.Glu251SerfsTer9) c.691_692del (p.Glu231SerfsTer9) | ClinVar dbSNP |
| 17 | g.61799206C>A | CA400483634 | BRIP1 | c.727G>T (p.Glu243Ter) c.1234G>T (p.Glu412Ter) n.2975G>T c.1012G>T (p.Glu338Ter) c.812G>T (n.812G>T) c.751G>T (p.Glu251Ter) c.691G>T (p.Glu231Ter) | |
| 17 | g.61799206C>G | CA400483635 | BRIP1 | c.727G>C (p.Glu243Gln) c.1234G>C (p.Glu412Gln) n.2975G>C c.1012G>C (p.Glu338Gln) c.812G>C (n.812G>C) c.751G>C (p.Glu251Gln) c.691G>C (p.Glu231Gln) | dbSNP |
| 17 | g.61799206C>T | CA400483636 | BRIP1 | c.727G>A (p.Glu243Lys) c.1234G>A (p.Glu412Lys) n.2975G>A c.1012G>A (p.Glu338Lys) c.812G>A (n.812G>A) c.751G>A (p.Glu251Lys) c.691G>A (p.Glu231Lys) | dbSNP |
| 17 | g.61799207T>A | CA501151552 | BRIP1 | c.726A>T (p.Thr242=) c.1233A>T (p.Thr411=) n.2974A>T c.1011A>T (p.Thr337=) c.811A>T (n.811A>T) c.750A>T (p.Thr250=) c.690A>T (p.Thr230=) | gnomAD v4 |
| 17 | g.61799207T>C | CA501151551 | BRIP1 | c.726A>G (p.Thr242=) c.1233A>G (p.Thr411=) n.2974A>G c.1011A>G (p.Thr337=) c.811A>G (n.811A>G) c.750A>G (p.Thr250=) c.690A>G (p.Thr230=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799207T>G | CA501151550 | BRIP1 | c.726A>C (p.Thr242=) c.1233A>C (p.Thr411=) n.2974A>C c.1011A>C (p.Thr337=) c.811A>C (n.811A>C) c.750A>C (p.Thr250=) c.690A>C (p.Thr230=) | |
| 17 | g.61799207T= | CA2269178686 | BRIP1 | c.726A= (p.Thr242=) c.1233A= (p.Thr411=) n.2974A= c.1011A= (p.Thr337=) c.811A= (n.811A=) c.750A= (p.Thr250=) c.690A= (p.Thr230=) | |
| 17 | g.61799207_61799217del | CA2576345099 | BRIP1 | c.716_726del (p.Tyr239Ter) c.1223_1233del (p.Tyr408Ter) n.2964_2974del c.1001_1011del (p.Tyr334Ter) c.801_811del (n.801_811del) c.740_750del (p.Tyr247Ter) c.680_690del (p.Tyr227Ter) | |
| 17 | g.61799208G>A | CA400483639 | BRIP1 | c.725C>T (p.Thr242Ile) c.1232C>T (p.Thr411Ile) n.2973C>T c.1010C>T (p.Thr337Ile) c.810C>T (n.810C>T) c.749C>T (p.Thr250Ile) c.689C>T (p.Thr230Ile) | gnomAD v4 |
| 17 | g.61799208G>C | CA400483638 | BRIP1 | c.725C>G (p.Thr242Arg) c.1232C>G (p.Thr411Arg) n.2973C>G c.1010C>G (p.Thr337Arg) c.810C>G (n.810C>G) c.749C>G (p.Thr250Arg) c.689C>G (p.Thr230Arg) | |
| 17 | g.61799208G= | CA2269178687 | BRIP1 | c.725C= (p.Thr242=) c.1232C= (p.Thr411=) n.2973C= c.1010C= (p.Thr337=) c.810C= (n.810C=) c.749C= (p.Thr250=) c.689C= (p.Thr230=) | |
| 17 | g.61799208G>T | CA400483637 | BRIP1 | c.725C>A (p.Thr242Lys) c.1232C>A (p.Thr411Lys) n.2973C>A c.1010C>A (p.Thr337Lys) c.810C>A (n.810C>A) c.749C>A (p.Thr250Lys) c.689C>A (p.Thr230Lys) | dbSNP gnomAD v2 |
| 17 | g.61799209T>A | CA400483640 | BRIP1 | c.724A>T (p.Thr242Ser) c.1231A>T (p.Thr411Ser) n.2972A>T c.1009A>T (p.Thr337Ser) c.809A>T (n.809A>T) c.748A>T (p.Thr250Ser) c.688A>T (p.Thr230Ser) | dbSNP |
| 17 | g.61799209T>C | CA400483641 | BRIP1 | c.724A>G (p.Thr242Ala) c.1231A>G (p.Thr411Ala) n.2972A>G c.1009A>G (p.Thr337Ala) c.809A>G (n.809A>G) c.748A>G (p.Thr250Ala) c.688A>G (p.Thr230Ala) | |
| 17 | g.61799209T>G | CA400483642 | BRIP1 | c.724A>C (p.Thr242Pro) c.1231A>C (p.Thr411Pro) n.2972A>C c.1009A>C (p.Thr337Pro) c.809A>C (n.809A>C) c.748A>C (p.Thr250Pro) c.688A>C (p.Thr230Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61799209T= | CA2269178688 | BRIP1 | c.724A= (p.Thr242=) c.1231A= (p.Thr411=) n.2972A= c.1009A= (p.Thr337=) c.809A= (n.809A=) c.748A= (p.Thr250=) c.688A= (p.Thr230=) | |
| 17 | g.61799210T>A | CA501151553 | BRIP1 | c.723A>T (p.Val241=) c.1230A>T (p.Val410=) n.2971A>T c.1008A>T (p.Val336=) c.808A>T (n.808A>T) c.747A>T (p.Val249=) c.687A>T (p.Val229=) | |
| 17 | g.61799210T>C | CA501151555 | BRIP1 | c.723A>G (p.Val241=) c.1230A>G (p.Val410=) n.2971A>G c.1008A>G (p.Val336=) c.808A>G (n.808A>G) c.747A>G (p.Val249=) c.687A>G (p.Val229=) | ClinVar |
| 17 | g.61799210T>G | CA501151557 | BRIP1 | c.723A>C (p.Val241=) c.1230A>C (p.Val410=) n.2971A>C c.1008A>C (p.Val336=) c.808A>C (n.808A>C) c.747A>C (p.Val249=) c.687A>C (p.Val229=) | ClinVar dbSNP |
| 17 | g.61799211A= | CA2269178689 | BRIP1 | c.722T= (p.Val241=) c.1229T= (p.Val410=) n.2970T= c.1007T= (p.Val336=) c.807T= (n.807T=) c.746T= (p.Val249=) c.686T= (p.Val229=) | |
| 17 | g.61799211A>C | CA400483643 | BRIP1 | c.722T>G (p.Val241Gly) c.1229T>G (p.Val410Gly) n.2970T>G c.1007T>G (p.Val336Gly) c.807T>G (n.807T>G) c.746T>G (p.Val249Gly) c.686T>G (p.Val229Gly) | |
| 17 | g.61799211A>G | CA400483644 | BRIP1 | c.722T>C (p.Val241Ala) c.1229T>C (p.Val410Ala) n.2970T>C c.1007T>C (p.Val336Ala) c.807T>C (n.807T>C) c.746T>C (p.Val249Ala) c.686T>C (p.Val229Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |