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.61847090T>C | CA626816987 | BRIP1 | c.627+11A>G (n.627+11A>G) c.120+11A>G (n.120+11A>G) n.2368+11A>G c.*126A>G (n.*126A>G) c.144+11A>G (n.144+11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847090T= | CA2269198490 | BRIP1 | c.627+11A= (n.627+11A=) c.120+11A= (n.120+11A=) n.2368+11A= c.*126A= (n.*126A=) c.144+11A= (n.144+11A=) | |
| 17 | g.61847092A>T | CA2733902322 | BRIP1 | c.627+9T>A (n.627+9T>A) c.120+9T>A (n.120+9T>A) n.2368+9T>A c.*124T>A (n.*124T>A) c.144+9T>A (n.144+9T>A) | dbSNP |
| 17 | g.61847092_61847099dup | CA2740093899 | BRIP1 | c.627+2_627+9dup (n.627+2_627+9dup) c.120+2_120+9dup (n.120+2_120+9dup) n.2368+2_2368+9dup c.*117_*124dup (n.*117_*124dup) c.144+2_144+9dup (n.144+2_144+9dup) | ClinVar |
| 17 | g.61847093A>G | CA2733902413 | BRIP1 | c.627+8T>C (n.627+8T>C) c.120+8T>C (n.120+8T>C) n.2368+8T>C c.*123T>C (n.*123T>C) c.144+8T>C (n.144+8T>C) | dbSNP |
| 17 | g.61847093A>T | CA2733902419 | BRIP1 | c.627+8T>A (n.627+8T>A) c.120+8T>A (n.120+8T>A) n.2368+8T>A c.*123T>A (n.*123T>A) c.144+8T>A (n.144+8T>A) | dbSNP |
| 17 | g.61847094T>A | CA2733659238 | BRIP1 | c.627+7A>T (n.627+7A>T) c.120+7A>T (n.120+7A>T) n.2368+7A>T c.*122A>T (n.*122A>T) c.144+7A>T (n.144+7A>T) | dbSNP |
| 17 | g.61847094T>C | CA16615518 | BRIP1 | c.627+7A>G (n.627+7A>G) c.120+7A>G (n.120+7A>G) n.2368+7A>G c.*122A>G (n.*122A>G) c.144+7A>G (n.144+7A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847094T= | CA2269198491 | BRIP1 | c.627+7A= (n.627+7A=) c.120+7A= (n.120+7A=) n.2368+7A= c.*122A= (n.*122A=) c.144+7A= (n.144+7A=) | |
| 17 | g.61847095A>G | CA2740093900 | BRIP1 | c.627+6T>C (n.627+6T>C) c.120+6T>C (n.120+6T>C) n.2368+6T>C c.*121T>C (n.*121T>C) c.144+6T>C (n.144+6T>C) | ClinVar |
| 17 | g.61847095A>T | CA2733902684 | BRIP1 | c.627+6T>A (n.627+6T>A) c.120+6T>A (n.120+6T>A) n.2368+6T>A c.*121T>A (n.*121T>A) c.144+6T>A (n.144+6T>A) | dbSNP |
| 17 | g.61847096C>A | CA2733646284 | BRIP1 | c.627+5G>T (n.627+5G>T) c.120+5G>T (n.120+5G>T) n.2368+5G>T c.*120G>T (n.*120G>T) c.144+5G>T (n.144+5G>T) | dbSNP |
| 17 | g.61847096C= | CA2269198492 | BRIP1 | c.627+5G= (n.627+5G=) c.120+5G= (n.120+5G=) n.2368+5G= c.*120G= (n.*120G=) c.144+5G= (n.144+5G=) | |
| 17 | g.61847096C>G | CA2733646283 | BRIP1 | c.627+5G>C (n.627+5G>C) c.120+5G>C (n.120+5G>C) n.2368+5G>C c.*120G>C (n.*120G>C) c.144+5G>C (n.144+5G>C) | dbSNP |
| 17 | g.61847096C>T | CA8690897 | BRIP1 | c.627+5G>A (n.627+5G>A) c.120+5G>A (n.120+5G>A) n.2368+5G>A c.*120G>A (n.*120G>A) c.144+5G>A (n.144+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847097A>T | CA2639157056 | BRIP1 | c.627+4T>A (n.627+4T>A) c.120+4T>A (n.120+4T>A) n.2368+4T>A c.*119T>A (n.*119T>A) c.144+4T>A (n.144+4T>A) | dbSNP gnomAD v4 |
| 17 | g.61847098T>C | CA658658684 | BRIP1 | c.627+3A>G (n.627+3A>G) c.120+3A>G (n.120+3A>G) n.2368+3A>G c.*118A>G (n.*118A>G) c.144+3A>G (n.144+3A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847098T>G | CA292277693 | BRIP1 | c.627+3A>C (n.627+3A>C) c.120+3A>C (n.120+3A>C) n.2368+3A>C c.*118A>C (n.*118A>C) c.144+3A>C (n.144+3A>C) | dbSNP gnomAD v4 |
| 17 | g.61847098T= | CA2269198493 | BRIP1 | c.627+3A= (n.627+3A=) c.120+3A= (n.120+3A=) n.2368+3A= c.*118A= (n.*118A=) c.144+3A= (n.144+3A=) | |
| 17 | g.61847099A= | CA2269198494 | BRIP1 | c.627+2T= (n.627+2T=) c.120+2T= (n.120+2T=) n.2368+2T= c.*117T= (n.*117T=) c.144+2T= (n.144+2T=) | |
| 17 | g.61847099A>C | CA400482774 | BRIP1 | c.627+2T>G (n.627+2T>G) c.120+2T>G (n.120+2T>G) n.2368+2T>G c.*117T>G (n.*117T>G) c.144+2T>G (n.144+2T>G) | |
| 17 | g.61847099A>G | CA400482775 | BRIP1 | c.627+2T>C (n.627+2T>C) c.120+2T>C (n.120+2T>C) n.2368+2T>C c.*117T>C (n.*117T>C) c.144+2T>C (n.144+2T>C) | ClinVar dbSNP |
| 17 | g.61847099A>T | CA400482776 | BRIP1 | c.627+2T>A (n.627+2T>A) c.120+2T>A (n.120+2T>A) n.2368+2T>A c.*117T>A (n.*117T>A) c.144+2T>A (n.144+2T>A) | ClinVar dbSNP |
| 17 | g.61847100C>A | CA400482777 | BRIP1 | c.627+1G>T (n.627+1G>T) c.120+1G>T (n.120+1G>T) n.2368+1G>T c.*116G>T (n.*116G>T) c.144+1G>T (n.144+1G>T) | ClinVar dbSNP |
| 17 | g.61847100C= | CA2269198495 | BRIP1 | c.627+1G= (n.627+1G=) c.120+1G= (n.120+1G=) n.2368+1G= c.*116G= (n.*116G=) c.144+1G= (n.144+1G=) | |
| 17 | g.61847100C>G | CA400482778 | BRIP1 | c.627+1G>C (n.627+1G>C) c.120+1G>C (n.120+1G>C) n.2368+1G>C c.*116G>C (n.*116G>C) c.144+1G>C (n.144+1G>C) | dbSNP |
| 17 | g.61847100C>T | CA298834 | BRIP1 | c.627+1G>A (n.627+1G>A) c.120+1G>A (n.120+1G>A) n.2368+1G>A c.*116G>A (n.*116G>A) c.144+1G>A (n.144+1G>A) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.61847101T>A | CA400482779 | BRIP1 | c.627A>T (p.Lys209Asn) c.120A>T (p.Lys40Asn) n.2368A>T c.*115A>T (n.*115A>T) c.144A>T (p.Lys48Asn) | |
| 17 | g.61847101T>C | CA501150600 | BRIP1 | c.627A>G (p.Lys209=) c.120A>G (p.Lys40=) n.2368A>G c.*115A>G (n.*115A>G) c.144A>G (p.Lys48=) | ClinVar dbSNP |
| 17 | g.61847101T>G | CA400482780 | BRIP1 | c.627A>C (p.Lys209Asn) c.120A>C (p.Lys40Asn) n.2368A>C c.*115A>C (n.*115A>C) c.144A>C (p.Lys48Asn) | |
| 17 | g.61847101T= | CA2269198496 | BRIP1 | c.627A= (p.Lys209=) c.120A= (p.Lys40=) n.2368A= c.*115A= (n.*115A=) c.144A= (p.Lys48=) | |
| 17 | g.61847103dup | CA773823948 | BRIP1 | c.627dup (p.Pro210ThrfsTer3) c.120dup (p.Pro41ThrfsTer7) c.627dup (p.Pro210ThrfsTer7) n.2368dup c.*115dup (n.*115dup) c.144dup (p.Pro49ThrfsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847102T>A | CA400482781 | BRIP1 | c.626A>T (p.Lys209Ile) c.119A>T (p.Lys40Ile) n.2367A>T c.*114A>T (n.*114A>T) c.143A>T (p.Lys48Ile) | |
| 17 | g.61847102T>C | CA10580865 | BRIP1 | c.626A>G (p.Lys209Arg) c.119A>G (p.Lys40Arg) n.2367A>G c.*114A>G (n.*114A>G) c.143A>G (p.Lys48Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847102T>G | CA400482782 | BRIP1 | c.626A>C (p.Lys209Thr) c.119A>C (p.Lys40Thr) n.2367A>C c.*114A>C (n.*114A>C) c.143A>C (p.Lys48Thr) | |
| 17 | g.61847102T= | CA2269198497 | BRIP1 | c.626A= (p.Lys209=) c.119A= (p.Lys40=) n.2367A= c.*114A= (n.*114A=) c.143A= (p.Lys48=) | |
| 17 | g.61847103T>A | CA400482783 | BRIP1 | c.625A>T (p.Lys209Ter) c.118A>T (p.Lys40Ter) n.2366A>T c.*113A>T (n.*113A>T) c.142A>T (p.Lys48Ter) | |
| 17 | g.61847103T>C | CA400482784 | BRIP1 | c.625A>G (p.Lys209Glu) c.118A>G (p.Lys40Glu) n.2366A>G c.*113A>G (n.*113A>G) c.142A>G (p.Lys48Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847103T>G | CA400482785 | BRIP1 | c.625A>C (p.Lys209Gln) c.118A>C (p.Lys40Gln) n.2366A>C c.*113A>C (n.*113A>C) c.142A>C (p.Lys48Gln) | |
| 17 | g.61847103T= | CA2269198498 | BRIP1 | c.625A= (p.Lys209=) c.118A= (p.Lys40=) n.2366A= c.*113A= (n.*113A=) c.142A= (p.Lys48=) | |
| 17 | g.61847104C>A | CA400482786 | BRIP1 | c.624G>T (p.Gln208His) c.117G>T (p.Gln39His) n.2365G>T c.*112G>T (n.*112G>T) c.141G>T (p.Gln47His) | dbSNP |
| 17 | g.61847104C>G | CA400482787 | BRIP1 | c.624G>C (p.Gln208His) c.117G>C (p.Gln39His) n.2365G>C c.*112G>C (n.*112G>C) c.141G>C (p.Gln47His) | dbSNP |
| 17 | g.61847104C>T | CA501150601 | BRIP1 | c.624G>A (p.Gln208=) c.117G>A (p.Gln39=) n.2365G>A c.*112G>A (n.*112G>A) c.141G>A (p.Gln47=) | dbSNP |
| 17 | g.61847105T>A | CA400482788 | BRIP1 | c.623A>T (p.Gln208Leu) c.116A>T (p.Gln39Leu) n.2364A>T c.*111A>T (n.*111A>T) c.140A>T (p.Gln47Leu) | |
| 17 | g.61847105T>C | CA400482789 | BRIP1 | c.623A>G (p.Gln208Arg) c.116A>G (p.Gln39Arg) n.2364A>G c.*111A>G (n.*111A>G) c.140A>G (p.Gln47Arg) | ClinVar |
| 17 | g.61847105T>G | CA400482790 | BRIP1 | c.623A>C (p.Gln208Pro) c.116A>C (p.Gln39Pro) n.2364A>C c.*111A>C (n.*111A>C) c.140A>C (p.Gln47Pro) | |
| 17 | g.61847106G>A | CA400482793 | BRIP1 | c.622C>T (p.Gln208Ter) c.115C>T (p.Gln39Ter) n.2363C>T c.*110C>T (n.*110C>T) c.139C>T (p.Gln47Ter) | ClinVar gnomAD v4 |
| 17 | g.61847106G>C | CA400482792 | BRIP1 | c.622C>G (p.Gln208Glu) c.115C>G (p.Gln39Glu) n.2363C>G c.*110C>G (n.*110C>G) c.139C>G (p.Gln47Glu) | dbSNP |
| 17 | g.61847106G= | CA2269198499 | BRIP1 | c.622C= (p.Gln208=) c.115C= (p.Gln39=) n.2363C= c.*110C= (n.*110C=) c.139C= (p.Gln47=) | |
| 17 | g.61847106G>T | CA400482791 | BRIP1 | c.622C>A (p.Gln208Lys) c.115C>A (p.Gln39Lys) n.2363C>A c.*110C>A (n.*110C>A) c.139C>A (p.Gln47Lys) | |
| 17 | g.61847107T>A | CA501150602 | BRIP1 | c.621A>T (p.Pro207=) c.114A>T (p.Pro38=) n.2362A>T c.*109A>T (n.*109A>T) c.138A>T (p.Pro46=) | dbSNP |
| 17 | g.61847107T>C | CA8690898 | BRIP1 | c.621A>G (p.Pro207=) c.114A>G (p.Pro38=) n.2362A>G c.*109A>G (n.*109A>G) c.138A>G (p.Pro46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847107T>G | CA501150603 | BRIP1 | c.621A>C (p.Pro207=) c.114A>C (p.Pro38=) n.2362A>C c.*109A>C (n.*109A>C) c.138A>C (p.Pro46=) | dbSNP |
| 17 | g.61847107T= | CA2269198500 | BRIP1 | c.621A= (p.Pro207=) c.114A= (p.Pro38=) n.2362A= c.*109A= (n.*109A=) c.138A= (p.Pro46=) | |
| 17 | g.61847108G>A | CA400482801 | BRIP1 | c.620C>T (p.Pro207Leu) c.113C>T (p.Pro38Leu) n.2361C>T c.*108C>T (n.*108C>T) c.137C>T (p.Pro46Leu) | ClinVar dbSNP |
| 17 | g.61847108G>C | CA400482797 | BRIP1 | c.620C>G (p.Pro207Arg) c.113C>G (p.Pro38Arg) n.2361C>G c.*108C>G (n.*108C>G) c.137C>G (p.Pro46Arg) | dbSNP |
| 17 | g.61847108G>T | CA400482799 | BRIP1 | c.620C>A (p.Pro207Gln) c.113C>A (p.Pro38Gln) n.2361C>A c.*108C>A (n.*108C>A) c.137C>A (p.Pro46Gln) | dbSNP gnomAD v4 |
| 17 | g.61847109G>A | CA8690899 | BRIP1 | c.619C>T (p.Pro207Ser) c.112C>T (p.Pro38Ser) n.2360C>T c.*107C>T (n.*107C>T) c.136C>T (p.Pro46Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847109G>C | CA400482806 | BRIP1 | c.619C>G (p.Pro207Ala) c.112C>G (p.Pro38Ala) n.2360C>G c.*107C>G (n.*107C>G) c.136C>G (p.Pro46Ala) | dbSNP |
| 17 | g.61847109G= | CA2269198501 | BRIP1 | c.619C= (p.Pro207=) c.112C= (p.Pro38=) n.2360C= c.*107C= (n.*107C=) c.136C= (p.Pro46=) | |
| 17 | g.61847109G>T | CA400482807 | BRIP1 | c.619C>A (p.Pro207Thr) c.112C>A (p.Pro38Thr) n.2360C>A c.*107C>A (n.*107C>A) c.136C>A (p.Pro46Thr) | dbSNP |
| 17 | g.61847110C>A | CA10580866 | BRIP1 | c.618G>T (p.Ser206=) c.111G>T (p.Ser37=) n.2359G>T c.*106G>T (n.*106G>T) c.135G>T (p.Ser45=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847110C= | CA2269198502 | BRIP1 | c.618G= (p.Ser206=) c.111G= (p.Ser37=) n.2359G= c.*106G= (n.*106G=) c.135G= (p.Ser45=) | |
| 17 | g.61847110C>G | CA501150604 | BRIP1 | c.618G>C (p.Ser206=) c.111G>C (p.Ser37=) n.2359G>C c.*106G>C (n.*106G>C) c.135G>C (p.Ser45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847110C>T | CA8690900 | BRIP1 | c.618G>A (p.Ser206=) c.111G>A (p.Ser37=) n.2359G>A c.*106G>A (n.*106G>A) c.135G>A (p.Ser45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847111G>A | CA334612 | BRIP1 | c.617C>T (p.Ser206Leu) c.110C>T (p.Ser37Leu) n.2358C>T c.*105C>T (n.*105C>T) c.134C>T (p.Ser45Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847111G>C | CA400482812 | BRIP1 | c.617C>G (p.Ser206Trp) c.110C>G (p.Ser37Trp) n.2358C>G c.*105C>G (n.*105C>G) c.134C>G (p.Ser45Trp) | dbSNP |
| 17 | g.61847111G= | CA2269198503 | BRIP1 | c.617C= (p.Ser206=) c.110C= (p.Ser37=) n.2358C= c.*105C= (n.*105C=) c.134C= (p.Ser45=) | |
| 17 | g.61847111G>T | CA400482815 | BRIP1 | c.617C>A (p.Ser206Ter) c.110C>A (p.Ser37Ter) n.2358C>A c.*105C>A (n.*105C>A) c.134C>A (p.Ser45Ter) | dbSNP |
| 17 | g.61847111_61847113delinsGAA | CA2269198504 | BRIP1 | c.615_617delinsTTC (p.Phe205=) c.108_110delinsTTC (p.Phe36=) n.2356_2358delinsTTC c.*103_*105delinsTTC (n.*103_*105delinsTTC) c.132_134delinsTTC (p.Phe44=) | |
| 17 | g.61847112A>C | CA400482818 | BRIP1 | c.616T>G (p.Ser206Ala) c.109T>G (p.Ser37Ala) n.2357T>G c.*104T>G (n.*104T>G) c.133T>G (p.Ser45Ala) | |
| 17 | g.61847112A>G | CA400482820 | BRIP1 | c.616T>C (p.Ser206Pro) c.109T>C (p.Ser37Pro) n.2357T>C c.*104T>C (n.*104T>C) c.133T>C (p.Ser45Pro) | |
| 17 | g.61847112A>T | CA400482823 | BRIP1 | c.616T>A (p.Ser206Thr) c.109T>A (p.Ser37Thr) n.2357T>A c.*104T>A (n.*104T>A) c.133T>A (p.Ser45Thr) | |
| 17 | g.61847115del | CA2580094478 | BRIP1 | c.616del (p.Ser206ArgfsTer9) c.109del (p.Ser37ArgfsTer?) c.616del (p.Ser206ArgfsTer?) n.2357del c.*104del (n.*104del) c.133del (p.Ser45ArgfsTer?) | ClinVar |
| 17 | g.61847114_61847115del | CA915950664 | BRIP1 | c.615_616del (p.Ser206AlafsTer6) c.108_109del (p.Ser37AlafsTer10) c.615_616del (p.Ser206AlafsTer10) n.2356_2357del c.*103_*104del (n.*103_*104del) c.132_133del (p.Ser45AlafsTer10) | ClinVar dbSNP |
| 17 | g.61847113A>C | CA400482825 | BRIP1 | c.615T>G (p.Phe205Leu) c.108T>G (p.Phe36Leu) n.2356T>G c.*103T>G (n.*103T>G) c.132T>G (p.Phe44Leu) | |
| 17 | g.61847113A>G | CA501150605 | BRIP1 | c.615T>C (p.Phe205=) c.108T>C (p.Phe36=) n.2356T>C c.*103T>C (n.*103T>C) c.132T>C (p.Phe44=) | dbSNP |
| 17 | g.61847113A>T | CA400482827 | BRIP1 | c.615T>A (p.Phe205Leu) c.108T>A (p.Phe36Leu) n.2356T>A c.*103T>A (n.*103T>A) c.132T>A (p.Phe44Leu) | |
| 17 | g.61847114A>C | CA400482829 | BRIP1 | c.614T>G (p.Phe205Cys) c.107T>G (p.Phe36Cys) n.2355T>G c.*102T>G (n.*102T>G) c.131T>G (p.Phe44Cys) | |
| 17 | g.61847114A>G | CA400482833 | BRIP1 | c.614T>C (p.Phe205Ser) c.107T>C (p.Phe36Ser) n.2355T>C c.*102T>C (n.*102T>C) c.131T>C (p.Phe44Ser) | dbSNP |
| 17 | g.61847114A>T | CA400482831 | BRIP1 | c.614T>A (p.Phe205Tyr) c.107T>A (p.Phe36Tyr) n.2355T>A c.*102T>A (n.*102T>A) c.131T>A (p.Phe44Tyr) | |
| 17 | g.61847114_61847117delinsAAGG | CA2269198505 | BRIP1 | c.611_614delinsCCTT (p.Ser204=) c.104_107delinsCCTT (p.Ser35=) n.2352_2355delinsCCTT c.*99_*102delinsCCTT (n.*99_*102delinsCCTT) c.128_131delinsCCTT (p.Ser43=) | |
| 17 | g.61847115A= | CA2269198506 | BRIP1 | c.613T= (p.Phe205=) c.106T= (p.Phe36=) n.2354T= c.*101T= (n.*101T=) c.130T= (p.Phe44=) | |
| 17 | g.61847115A>C | CA400482836 | BRIP1 | c.613T>G (p.Phe205Val) c.106T>G (p.Phe36Val) n.2354T>G c.*101T>G (n.*101T>G) c.130T>G (p.Phe44Val) | ClinVar dbSNP |
| 17 | g.61847115A>G | CA400482838 | BRIP1 | c.613T>C (p.Phe205Leu) c.106T>C (p.Phe36Leu) n.2354T>C c.*101T>C (n.*101T>C) c.130T>C (p.Phe44Leu) | ClinVar dbSNP |
| 17 | g.61847115A>T | CA400482840 | BRIP1 | c.613T>A (p.Phe205Ile) c.106T>A (p.Phe36Ile) n.2354T>A c.*101T>A (n.*101T>A) c.130T>A (p.Phe44Ile) | dbSNP |
| 17 | g.61847117_61847119del | CA16615826 | BRIP1 | c.611_613del (p.Ser204del) c.104_106del (p.Ser35del) n.2352_2354del c.*99_*101del (n.*99_*101del) c.128_130del (p.Ser43del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847116G>A | CA501150608 | BRIP1 | c.612C>T (p.Ser204=) c.105C>T (p.Ser35=) n.2353C>T c.*100C>T (n.*100C>T) c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847116G>C | CA332993 | BRIP1 | c.612C>G (p.Ser204=) c.105C>G (p.Ser35=) n.2353C>G c.*100C>G (n.*100C>G) c.129C>G (p.Ser43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847116G= | CA2269198507 | BRIP1 | c.612C= (p.Ser204=) c.105C= (p.Ser35=) n.2353C= c.*100C= (n.*100C=) c.129C= (p.Ser43=) | |
| 17 | g.61847116G>T | CA501150609 | BRIP1 | c.612C>A (p.Ser204=) c.105C>A (p.Ser35=) n.2353C>A c.*100C>A (n.*100C>A) c.129C>A (p.Ser43=) | |
| 17 | g.61847117del | CA2582342223 | BRIP1 | c.612del (p.Ser206ArgfsTer9) c.105del (p.Ser37ArgfsTer?) c.612del (p.Ser206ArgfsTer?) n.2353del c.*100del (n.*100del) c.129del (p.Ser45ArgfsTer?) | ClinVar |
| 17 | g.61847117G>A | CA8690901 | BRIP1 | c.611C>T (p.Ser204Phe) c.104C>T (p.Ser35Phe) n.2352C>T c.*99C>T (n.*99C>T) c.128C>T (p.Ser43Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847117G>C | CA400482846 | BRIP1 | c.611C>G (p.Ser204Cys) c.104C>G (p.Ser35Cys) n.2352C>G c.*99C>G (n.*99C>G) c.128C>G (p.Ser43Cys) | dbSNP |
| 17 | g.61847117G= | CA2269198508 | BRIP1 | c.611C= (p.Ser204=) c.104C= (p.Ser35=) n.2352C= c.*99C= (n.*99C=) c.128C= (p.Ser43=) | |
| 17 | g.61847117G>T | CA400482849 | BRIP1 | c.611C>A (p.Ser204Tyr) c.104C>A (p.Ser35Tyr) n.2352C>A c.*99C>A (n.*99C>A) c.128C>A (p.Ser43Tyr) | |
| 17 | g.61847118A= | CA2269198509 | BRIP1 | c.610T= (p.Ser204=) c.103T= (p.Ser35=) n.2351T= c.*98T= (n.*98T=) c.127T= (p.Ser43=) | |
| 17 | g.61847118A>C | CA8690902 | BRIP1 | c.610T>G (p.Ser204Ala) c.103T>G (p.Ser35Ala) n.2351T>G c.*98T>G (n.*98T>G) c.127T>G (p.Ser43Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847118A>G | CA400482853 | BRIP1 | c.610T>C (p.Ser204Pro) c.103T>C (p.Ser35Pro) n.2351T>C c.*98T>C (n.*98T>C) c.127T>C (p.Ser43Pro) | ClinVar gnomAD v4 |
| 17 | g.61847118A>T | CA400482855 | BRIP1 | c.610T>A (p.Ser204Thr) c.103T>A (p.Ser35Thr) n.2351T>A c.*98T>A (n.*98T>A) c.127T>A (p.Ser43Thr) | |
| 17 | g.61847119G>A | CA501150610 | BRIP1 | c.609C>T (p.Asn203=) c.102C>T (p.Asn34=) n.2350C>T c.*97C>T (n.*97C>T) c.126C>T (p.Asn42=) | |
| 17 | g.61847119G>C | CA400482858 | BRIP1 | c.609C>G (p.Asn203Lys) c.102C>G (p.Asn34Lys) n.2350C>G c.*97C>G (n.*97C>G) c.126C>G (p.Asn42Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847119G= | CA2269198511 | BRIP1 | c.609C= (p.Asn203=) c.102C= (p.Asn34=) n.2350C= c.*97C= (n.*97C=) c.126C= (p.Asn42=) | |
| 17 | g.61847119G>T | CA400482860 | BRIP1 | c.609C>A (p.Asn203Lys) c.102C>A (p.Asn34Lys) n.2350C>A c.*97C>A (n.*97C>A) c.126C>A (p.Asn42Lys) | |
| 17 | g.61847119_61847120delinsGT | CA2269198510 | BRIP1 | c.608_609delinsAC (p.Asn203=) c.101_102delinsAC (p.Asn34=) n.2349_2350delinsAC c.*96_*97delinsAC (n.*96_*97delinsAC) c.125_126delinsAC (p.Asn42=) | |
| 17 | g.61847120T>A | CA400482863 | BRIP1 | c.608A>T (p.Asn203Ile) c.101A>T (p.Asn34Ile) n.2349A>T c.*96A>T (n.*96A>T) c.125A>T (p.Asn42Ile) | dbSNP |
| 17 | g.61847120T>C | CA400482867 | BRIP1 | c.608A>G (p.Asn203Ser) c.101A>G (p.Asn34Ser) n.2349A>G c.*96A>G (n.*96A>G) c.125A>G (p.Asn42Ser) | ClinVar dbSNP |
| 17 | g.61847120T>G | CA400482865 | BRIP1 | c.608A>C (p.Asn203Thr) c.101A>C (p.Asn34Thr) n.2349A>C c.*96A>C (n.*96A>C) c.125A>C (p.Asn42Thr) | |
| 17 | g.61847120T= | CA2269198512 | BRIP1 | c.608A= (p.Asn203=) c.101A= (p.Asn34=) n.2349A= c.*96A= (n.*96A=) c.125A= (p.Asn42=) | |
| 17 | g.61847122del | CA915950665 | BRIP1 | c.608del (p.Asn203ThrfsTer12) c.101del (p.Asn34ThrfsTer?) c.608del (p.Asn203ThrfsTer?) n.2349del c.*96del (n.*96del) c.125del (p.Asn42ThrfsTer?) | ClinVar dbSNP |
| 17 | g.61847121T>A | CA400482869 | BRIP1 | c.607A>T (p.Asn203Tyr) c.100A>T (p.Asn34Tyr) n.2348A>T c.*95A>T (n.*95A>T) c.124A>T (p.Asn42Tyr) | |
| 17 | g.61847121T>C | CA400482871 | BRIP1 | c.607A>G (p.Asn203Asp) c.100A>G (p.Asn34Asp) n.2348A>G c.*95A>G (n.*95A>G) c.124A>G (p.Asn42Asp) | |
| 17 | g.61847121T>G | CA400482873 | BRIP1 | c.607A>C (p.Asn203His) c.100A>C (p.Asn34His) n.2348A>C c.*95A>C (n.*95A>C) c.124A>C (p.Asn42His) | COSMIC COSMIC |
| 17 | g.61847122T>A | CA501150611 | BRIP1 | c.606A>T (p.Ile202=) c.99A>T (p.Ile33=) n.2347A>T c.*94A>T (n.*94A>T) c.123A>T (p.Ile41=) | |
| 17 | g.61847122T>C | CA400482875 | BRIP1 | c.606A>G (p.Ile202Met) c.99A>G (p.Ile33Met) n.2347A>G c.*94A>G (n.*94A>G) c.123A>G (p.Ile41Met) | |
| 17 | g.61847122T>G | CA501150612 | BRIP1 | c.606A>C (p.Ile202=) c.99A>C (p.Ile33=) n.2347A>C c.*94A>C (n.*94A>C) c.123A>C (p.Ile41=) | |
| 17 | g.61847123A>C | CA400482877 | BRIP1 | c.605T>G (p.Ile202Arg) c.98T>G (p.Ile33Arg) n.2346T>G c.*93T>G (n.*93T>G) c.122T>G (p.Ile41Arg) | |
| 17 | g.61847123A>G | CA400482879 | BRIP1 | c.605T>C (p.Ile202Thr) c.98T>C (p.Ile33Thr) n.2346T>C c.*93T>C (n.*93T>C) c.122T>C (p.Ile41Thr) | ClinVar |
| 17 | g.61847123A>T | CA400482881 | BRIP1 | c.605T>A (p.Ile202Lys) c.98T>A (p.Ile33Lys) n.2346T>A c.*93T>A (n.*93T>A) c.122T>A (p.Ile41Lys) | dbSNP |
| 17 | g.61847123_61847124delinsAT | CA2269198513 | BRIP1 | c.604_605delinsAT (p.Ile202=) c.97_98delinsAT (p.Ile33=) n.2345_2346delinsAT c.*92_*93delinsAT (n.*92_*93delinsAT) c.121_122delinsAT (p.Ile41=) | |
| 17 | g.61847124del | CA915950666 | BRIP1 | c.604del (p.Ile202Ter) c.97del (p.Ile33Ter) n.2345del c.*92del (n.*92del) c.121del (p.Ile41Ter) | ClinVar dbSNP |
| 17 | g.61847124T>A | CA400482884 | BRIP1 | c.604A>T (p.Ile202Leu) c.97A>T (p.Ile33Leu) n.2345A>T c.*92A>T (n.*92A>T) c.121A>T (p.Ile41Leu) | ClinVar dbSNP |
| 17 | g.61847124T>C | CA16615523 | BRIP1 | c.604A>G (p.Ile202Val) c.97A>G (p.Ile33Val) n.2345A>G c.*92A>G (n.*92A>G) c.121A>G (p.Ile41Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847124T>G | CA400482887 | BRIP1 | c.604A>C (p.Ile202Leu) c.97A>C (p.Ile33Leu) n.2345A>C c.*92A>C (n.*92A>C) c.121A>C (p.Ile41Leu) | |
| 17 | g.61847124T= | CA2269198514 | BRIP1 | c.604A= (p.Ile202=) c.97A= (p.Ile33=) n.2345A= c.*92A= (n.*92A=) c.121A= (p.Ile41=) | |
| 17 | g.61847125del | CA2580094481 | BRIP1 | c.603del (p.Ile202Ter) c.96del (p.Ile33Ter) n.2344del c.*91del (n.*91del) c.120del (p.Ile41Ter) | ClinVar |
| 17 | g.61847125C>A | CA400482890 | BRIP1 | c.603G>T (p.Lys201Asn) c.96G>T (p.Lys32Asn) n.2344G>T c.*91G>T (n.*91G>T) c.120G>T (p.Lys40Asn) | |
| 17 | g.61847125C= | CA2269198515 | BRIP1 | c.603G= (p.Lys201=) c.96G= (p.Lys32=) n.2344G= c.*91G= (n.*91G=) c.120G= (p.Lys40=) | |
| 17 | g.61847125C>G | CA400482892 | BRIP1 | c.603G>C (p.Lys201Asn) c.96G>C (p.Lys32Asn) n.2344G>C c.*91G>C (n.*91G>C) c.120G>C (p.Lys40Asn) | COSMIC COSMIC |
| 17 | g.61847125C>T | CA501150613 | BRIP1 | c.603G>A (p.Lys201=) c.96G>A (p.Lys32=) n.2344G>A c.*91G>A (n.*91G>A) c.120G>A (p.Lys40=) | ClinVar dbSNP |
| 17 | g.61847126T>A | CA400482898 | BRIP1 | c.602A>T (p.Lys201Met) c.95A>T (p.Lys32Met) n.2343A>T c.*90A>T (n.*90A>T) c.119A>T (p.Lys40Met) | |
| 17 | g.61847126T>C | CA400482894 | BRIP1 | c.602A>G (p.Lys201Arg) c.95A>G (p.Lys32Arg) n.2343A>G c.*90A>G (n.*90A>G) c.119A>G (p.Lys40Arg) | ClinVar dbSNP |
| 17 | g.61847126T>G | CA400482896 | BRIP1 | c.602A>C (p.Lys201Thr) c.95A>C (p.Lys32Thr) n.2343A>C c.*90A>C (n.*90A>C) c.119A>C (p.Lys40Thr) | |
| 17 | g.61847126T= | CA2269198516 | BRIP1 | c.602A= (p.Lys201=) c.95A= (p.Lys32=) n.2343A= c.*90A= (n.*90A=) c.119A= (p.Lys40=) | |
| 17 | g.61847127T>A | CA400482901 | BRIP1 | c.601A>T (p.Lys201Ter) c.94A>T (p.Lys32Ter) n.2342A>T c.*89A>T (n.*89A>T) c.118A>T (p.Lys40Ter) | |
| 17 | g.61847127T>C | CA400482903 | BRIP1 | c.601A>G (p.Lys201Glu) c.94A>G (p.Lys32Glu) n.2342A>G c.*89A>G (n.*89A>G) c.118A>G (p.Lys40Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847127T>G | CA400482905 | BRIP1 | c.601A>C (p.Lys201Gln) c.94A>C (p.Lys32Gln) n.2342A>C c.*89A>C (n.*89A>C) c.118A>C (p.Lys40Gln) | |
| 17 | g.61847127T= | CA2269198517 | BRIP1 | c.601A= (p.Lys201=) c.94A= (p.Lys32=) n.2342A= c.*89A= (n.*89A=) c.118A= (p.Lys40=) | |
| 17 | g.61847128T>A | CA400482909 | BRIP1 | c.600A>T (p.Glu200Asp) c.93A>T (p.Glu31Asp) n.2341A>T c.*88A>T (n.*88A>T) c.117A>T (p.Glu39Asp) | |
| 17 | g.61847128T>C | CA501150614 | BRIP1 | c.600A>G (p.Glu200=) c.93A>G (p.Glu31=) n.2341A>G c.*88A>G (n.*88A>G) c.117A>G (p.Glu39=) | ClinVar |
| 17 | g.61847128T>G | CA400482910 | BRIP1 | c.600A>C (p.Glu200Asp) c.93A>C (p.Glu31Asp) n.2341A>C c.*88A>C (n.*88A>C) c.117A>C (p.Glu39Asp) | |
| 17 | g.61847129T>A | CA400482912 | BRIP1 | c.599A>T (p.Glu200Val) c.92A>T (p.Glu31Val) n.2340A>T c.*87A>T (n.*87A>T) c.116A>T (p.Glu39Val) | |
| 17 | g.61847129T>C | CA400482913 | BRIP1 | c.599A>G (p.Glu200Gly) c.92A>G (p.Glu31Gly) n.2340A>G c.*87A>G (n.*87A>G) c.116A>G (p.Glu39Gly) | ClinVar dbSNP |
| 17 | g.61847129T>G | CA400482916 | BRIP1 | c.599A>C (p.Glu200Ala) c.92A>C (p.Glu31Ala) n.2340A>C c.*87A>C (n.*87A>C) c.116A>C (p.Glu39Ala) | |
| 17 | g.61847129T= | CA2269198518 | BRIP1 | c.599A= (p.Glu200=) c.92A= (p.Glu31=) n.2340A= c.*87A= (n.*87A=) c.116A= (p.Glu39=) | |
| 17 | g.61847129_61847130delinsTC | CA2269198519 | BRIP1 | c.598_599delinsGA (p.Glu200=) c.91_92delinsGA (p.Glu31=) n.2339_2340delinsGA c.*86_*87delinsGA (n.*86_*87delinsGA) c.115_116delinsGA (p.Glu39=) | |
| 17 | g.61847130C>A | CA400482918 | BRIP1 | c.598G>T (p.Glu200Ter) c.91G>T (p.Glu31Ter) n.2339G>T c.*86G>T (n.*86G>T) c.115G>T (p.Glu39Ter) | ClinVar |
| 17 | g.61847130C= | CA2269198520 | BRIP1 | c.598G= (p.Glu200=) c.91G= (p.Glu31=) n.2339G= c.*86G= (n.*86G=) c.115G= (p.Glu39=) | |
| 17 | g.61847130C>G | CA400482921 | BRIP1 | c.598G>C (p.Glu200Gln) c.91G>C (p.Glu31Gln) n.2339G>C c.*86G>C (n.*86G>C) c.115G>C (p.Glu39Gln) | |
| 17 | g.61847130C>T | CA400482923 | BRIP1 | c.598G>A (p.Glu200Lys) c.91G>A (p.Glu31Lys) n.2339G>A c.*86G>A (n.*86G>A) c.115G>A (p.Glu39Lys) | ClinVar dbSNP |
| 17 | g.61847131del | CA915950667 | BRIP1 | c.598del (p.Glu200LysfsTer3) c.91del (p.Glu31LysfsTer3) n.2339del c.*86del (n.*86del) c.115del (p.Glu39LysfsTer3) | ClinVar dbSNP |
| 17 | g.61847131C>A | CA501150615 | BRIP1 | c.597G>T (p.Leu199=) c.90G>T (p.Leu30=) n.2338G>T c.*85G>T (n.*85G>T) c.114G>T (p.Leu38=) | |
| 17 | g.61847131C= | CA2269198521 | BRIP1 | c.597G= (p.Leu199=) c.90G= (p.Leu30=) n.2338G= c.*85G= (n.*85G=) c.114G= (p.Leu38=) | |
| 17 | g.61847131C>G | CA501150616 | BRIP1 | c.597G>C (p.Leu199=) c.90G>C (p.Leu30=) n.2338G>C c.*85G>C (n.*85G>C) c.114G>C (p.Leu38=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.61847131C>T | CA501150617 | BRIP1 | c.597G>A (p.Leu199=) c.90G>A (p.Leu30=) n.2338G>A c.*85G>A (n.*85G>A) c.114G>A (p.Leu38=) | ClinVar dbSNP |
| 17 | g.61847132A>C | CA400482931 | BRIP1 | c.596T>G (p.Leu199Arg) c.89T>G (p.Leu30Arg) n.2337T>G c.*84T>G (n.*84T>G) c.113T>G (p.Leu38Arg) | |
| 17 | g.61847132A>G | CA400482928 | BRIP1 | c.596T>C (p.Leu199Pro) c.89T>C (p.Leu30Pro) n.2337T>C c.*84T>C (n.*84T>C) c.113T>C (p.Leu38Pro) | |
| 17 | g.61847132A>T | CA400482926 | BRIP1 | c.596T>A (p.Leu199Gln) c.89T>A (p.Leu30Gln) n.2337T>A c.*84T>A (n.*84T>A) c.113T>A (p.Leu38Gln) | dbSNP |
| 17 | g.61847133G>A | CA8690903 | BRIP1 | c.595C>T (p.Leu199=) c.88C>T (p.Leu30=) n.2336C>T c.*83C>T (n.*83C>T) c.112C>T (p.Leu38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847133G>C | CA400482937 | BRIP1 | c.595C>G (p.Leu199Val) c.88C>G (p.Leu30Val) n.2336C>G c.*83C>G (n.*83C>G) c.112C>G (p.Leu38Val) | ClinVar dbSNP |
| 17 | g.61847133G= | CA2269198522 | BRIP1 | c.595C= (p.Leu199=) c.88C= (p.Leu30=) n.2336C= c.*83C= (n.*83C=) c.112C= (p.Leu38=) | |
| 17 | g.61847133G>T | CA400482935 | BRIP1 | c.595C>A (p.Leu199Met) c.88C>A (p.Leu30Met) n.2336C>A c.*83C>A (n.*83C>A) c.112C>A (p.Leu38Met) | |
| 17 | g.61847134T>A | CA501150618 | BRIP1 | c.594A>T (p.Pro198=) c.87A>T (p.Pro29=) n.2335A>T c.*82A>T (n.*82A>T) c.111A>T (p.Pro37=) | |
| 17 | g.61847134T>C | CA501150619 | BRIP1 | c.594A>G (p.Pro198=) c.87A>G (p.Pro29=) n.2335A>G c.*82A>G (n.*82A>G) c.111A>G (p.Pro37=) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.61847134T>G | CA501150620 | BRIP1 | c.594A>C (p.Pro198=) c.87A>C (p.Pro29=) n.2335A>C c.*82A>C (n.*82A>C) c.111A>C (p.Pro37=) | |
| 17 | g.61847135G>A | CA400482940 | BRIP1 | c.593C>T (p.Pro198Leu) c.86C>T (p.Pro29Leu) n.2334C>T c.*81C>T (n.*81C>T) c.110C>T (p.Pro37Leu) | ClinVar dbSNP |
| 17 | g.61847135G>C | CA400482941 | BRIP1 | c.593C>G (p.Pro198Arg) c.86C>G (p.Pro29Arg) n.2334C>G c.*81C>G (n.*81C>G) c.110C>G (p.Pro37Arg) | |
| 17 | g.61847135G>T | CA400482942 | BRIP1 | c.593C>A (p.Pro198Gln) c.86C>A (p.Pro29Gln) n.2334C>A c.*81C>A (n.*81C>A) c.110C>A (p.Pro37Gln) | dbSNP |
| 17 | g.61847136G>A | CA400482946 | BRIP1 | c.592C>T (p.Pro198Ser) c.85C>T (p.Pro29Ser) n.2333C>T c.*80C>T (n.*80C>T) c.109C>T (p.Pro37Ser) | dbSNP COSMIC COSMIC |
| 17 | g.61847136G>C | CA400482948 | BRIP1 | c.592C>G (p.Pro198Ala) c.85C>G (p.Pro29Ala) n.2333C>G c.*80C>G (n.*80C>G) c.109C>G (p.Pro37Ala) | dbSNP |
| 17 | g.61847136G>T | CA400482950 | BRIP1 | c.592C>A (p.Pro198Thr) c.85C>A (p.Pro29Thr) n.2333C>A c.*80C>A (n.*80C>A) c.109C>A (p.Pro37Thr) | ClinVar |
| 17 | g.61847137A>C | CA501150621 | BRIP1 | c.591T>G (p.Ser197=) c.84T>G (p.Ser28=) n.2332T>G c.*79T>G (n.*79T>G) c.108T>G (p.Ser36=) | ClinVar |
| 17 | g.61847137A>G | CA501150622 | BRIP1 | c.591T>C (p.Ser197=) c.84T>C (p.Ser28=) n.2332T>C c.*79T>C (n.*79T>C) c.108T>C (p.Ser36=) | |
| 17 | g.61847137A>T | CA501150623 | BRIP1 | c.591T>A (p.Ser197=) c.84T>A (p.Ser28=) n.2332T>A c.*79T>A (n.*79T>A) c.108T>A (p.Ser36=) | ClinVar dbSNP |
| 17 | g.61847138G>A | CA167679 | BRIP1 | c.590C>T (p.Ser197Phe) c.83C>T (p.Ser28Phe) n.2331C>T c.*78C>T (n.*78C>T) c.107C>T (p.Ser36Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847138G>C | CA10580867 | BRIP1 | c.590C>G (p.Ser197Cys) c.83C>G (p.Ser28Cys) n.2331C>G c.*78C>G (n.*78C>G) c.107C>G (p.Ser36Cys) | ClinVar dbSNP |
| 17 | g.61847138G= | CA2269198523 | BRIP1 | c.590C= (p.Ser197=) c.83C= (p.Ser28=) n.2331C= c.*78C= (n.*78C=) c.107C= (p.Ser36=) | |
| 17 | g.61847138G>T | CA10580868 | BRIP1 | c.590C>A (p.Ser197Tyr) c.83C>A (p.Ser28Tyr) n.2331C>A c.*78C>A (n.*78C>A) c.107C>A (p.Ser36Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847139A= | CA2269198524 | BRIP1 | c.589T= (p.Ser197=) c.82T= (p.Ser28=) n.2330T= c.*77T= (n.*77T=) c.106T= (p.Ser36=) | |
| 17 | g.61847139A>C | CA400482956 | BRIP1 | c.589T>G (p.Ser197Ala) c.82T>G (p.Ser28Ala) n.2330T>G c.*77T>G (n.*77T>G) c.106T>G (p.Ser36Ala) | |
| 17 | g.61847139A>G | CA8690904 | BRIP1 | c.589T>C (p.Ser197Pro) c.82T>C (p.Ser28Pro) n.2330T>C c.*77T>C (n.*77T>C) c.106T>C (p.Ser36Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847139A>T | CA400482959 | BRIP1 | c.589T>A (p.Ser197Thr) c.82T>A (p.Ser28Thr) n.2330T>A c.*77T>A (n.*77T>A) c.106T>A (p.Ser36Thr) | dbSNP |
| 17 | g.61847140G>A | CA8690905 | BRIP1 | c.588C>T (p.Asn196=) c.81C>T (p.Asn27=) n.2329C>T c.*76C>T (n.*76C>T) c.105C>T (p.Asn35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847140G>C | CA292277712 | BRIP1 | c.588C>G (p.Asn196Lys) c.81C>G (p.Asn27Lys) n.2329C>G c.*76C>G (n.*76C>G) c.105C>G (p.Asn35Lys) | ClinVar dbSNP |
| 17 | g.61847140G= | CA2269198525 | BRIP1 | c.588C= (p.Asn196=) c.81C= (p.Asn27=) n.2329C= c.*76C= (n.*76C=) c.105C= (p.Asn35=) | |
| 17 | g.61847140G>T | CA400482965 | BRIP1 | c.588C>A (p.Asn196Lys) c.81C>A (p.Asn27Lys) n.2329C>A c.*76C>A (n.*76C>A) c.105C>A (p.Asn35Lys) | |
| 17 | g.61847141T>A | CA400482969 | BRIP1 | c.587A>T (p.Asn196Ile) c.80A>T (p.Asn27Ile) n.2328A>T c.*75A>T (n.*75A>T) c.104A>T (p.Asn35Ile) | dbSNP |
| 17 | g.61847141T>C | CA288606 | BRIP1 | c.587A>G (p.Asn196Ser) c.80A>G (p.Asn27Ser) n.2328A>G c.*75A>G (n.*75A>G) c.104A>G (p.Asn35Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.61847141T>G | CA400482971 | BRIP1 | c.587A>C (p.Asn196Thr) c.80A>C (p.Asn27Thr) n.2328A>C c.*75A>C (n.*75A>C) c.104A>C (p.Asn35Thr) | ClinVar dbSNP |
| 17 | g.61847141T= | CA2269198526 | BRIP1 | c.587A= (p.Asn196=) c.80A= (p.Asn27=) n.2328A= c.*75A= (n.*75A=) c.104A= (p.Asn35=) | |
| 17 | g.61847142T>A | CA400482974 | BRIP1 | c.586A>T (p.Asn196Tyr) c.79A>T (p.Asn27Tyr) n.2327A>T c.*74A>T (n.*74A>T) c.103A>T (p.Asn35Tyr) | |
| 17 | g.61847142T>C | CA400482976 | BRIP1 | c.586A>G (p.Asn196Asp) c.79A>G (p.Asn27Asp) n.2327A>G c.*74A>G (n.*74A>G) c.103A>G (p.Asn35Asp) | dbSNP |
| 17 | g.61847142T>G | CA400482978 | BRIP1 | c.586A>C (p.Asn196His) c.79A>C (p.Asn27His) n.2327A>C c.*74A>C (n.*74A>C) c.103A>C (p.Asn35His) | |
| 17 | g.61847142_61847144delinsTGA | CA2269198527 | BRIP1 | c.584_586delinsTCA (p.Leu195=) c.77_79delinsTCA (p.Leu26=) n.2325_2327delinsTCA c.*72_*74delinsTCA (n.*72_*74delinsTCA) c.101_103delinsTCA (p.Leu34=) | |
| 17 | g.61847143G>A | CA501150626 | BRIP1 | c.585C>T (p.Leu195=) c.78C>T (p.Leu26=) n.2326C>T c.*73C>T (n.*73C>T) c.102C>T (p.Leu34=) | ClinVar dbSNP |
| 17 | g.61847143G>C | CA501150627 | BRIP1 | c.585C>G (p.Leu195=) c.78C>G (p.Leu26=) n.2326C>G c.*73C>G (n.*73C>G) c.102C>G (p.Leu34=) | dbSNP |
| 17 | g.61847143G= | CA2269198528 | BRIP1 | c.585C= (p.Leu195=) c.78C= (p.Leu26=) n.2326C= c.*73C= (n.*73C=) c.102C= (p.Leu34=) | |
| 17 | g.61847143G>T | CA501150625 | BRIP1 | c.585C>A (p.Leu195=) c.78C>A (p.Leu26=) n.2326C>A c.*73C>A (n.*73C>A) c.102C>A (p.Leu34=) | |
| 17 | g.61847144_61847145del | CA658658685 | BRIP1 | c.584_585del (p.Leu195GlnfsTer17) c.77_78del (p.Leu26GlnfsTer21) c.584_585del (p.Leu195GlnfsTer21) n.2325_2326del c.*72_*73del (n.*72_*73del) c.101_102del (p.Leu34GlnfsTer21) | ClinVar dbSNP |
| 17 | g.61847143_61847150delinsTT | CA2582342226 | BRIP1 | c.578_585delinsAA (p.Val193_Leu195delinsGlu) c.71_78delinsAA (p.Val24_Leu26delinsGlu) n.2319_2326delinsAA c.*66_*73delinsAA (n.*66_*73delinsAA) c.95_102delinsAA (p.Val32_Leu34delinsGlu) | ClinVar |
| 17 | g.61847144A= | CA2269198529 | BRIP1 | c.584T= (p.Leu195=) c.77T= (p.Leu26=) n.2325T= c.*72T= (n.*72T=) c.101T= (p.Leu34=) | |
| 17 | g.61847144A>C | CA400482981 | BRIP1 | c.584T>G (p.Leu195Arg) c.77T>G (p.Leu26Arg) n.2325T>G c.*72T>G (n.*72T>G) c.101T>G (p.Leu34Arg) | ClinVar |
| 17 | g.61847144A>G | CA157725 | BRIP1 | c.584T>C (p.Leu195Pro) c.77T>C (p.Leu26Pro) n.2325T>C c.*72T>C (n.*72T>C) c.101T>C (p.Leu34Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847144A>T | CA400482984 | BRIP1 | c.584T>A (p.Leu195His) c.77T>A (p.Leu26His) n.2325T>A c.*72T>A (n.*72T>A) c.101T>A (p.Leu34His) | dbSNP |
| 17 | g.61847145G>A | CA400482988 | BRIP1 | c.583C>T (p.Leu195Phe) c.76C>T (p.Leu26Phe) n.2324C>T c.*71C>T (n.*71C>T) c.100C>T (p.Leu34Phe) | ClinVar dbSNP |
| 17 | g.61847145G>C | CA400482989 | BRIP1 | c.583C>G (p.Leu195Val) c.76C>G (p.Leu26Val) n.2324C>G c.*71C>G (n.*71C>G) c.100C>G (p.Leu34Val) | |
| 17 | g.61847145G= | CA2269198530 | BRIP1 | c.583C= (p.Leu195=) c.76C= (p.Leu26=) n.2324C= c.*71C= (n.*71C=) c.100C= (p.Leu34=) | |
| 17 | g.61847145G>T | CA400482992 | BRIP1 | c.583C>A (p.Leu195Ile) c.76C>A (p.Leu26Ile) n.2324C>A c.*71C>A (n.*71C>A) c.100C>A (p.Leu34Ile) | |
| 17 | g.61847146T>A | CA292277717 | BRIP1 | c.582A>T (p.Lys194Asn) c.75A>T (p.Lys25Asn) n.2323A>T c.*70A>T (n.*70A>T) c.99A>T (p.Lys33Asn) | ClinVar dbSNP |
| 17 | g.61847146T>C | CA501150628 | BRIP1 | c.582A>G (p.Lys194=) c.75A>G (p.Lys25=) n.2323A>G c.*70A>G (n.*70A>G) c.99A>G (p.Lys33=) | ClinVar |
| 17 | g.61847146T>G | CA400482996 | BRIP1 | c.582A>C (p.Lys194Asn) c.75A>C (p.Lys25Asn) n.2323A>C c.*70A>C (n.*70A>C) c.99A>C (p.Lys33Asn) | ClinVar |
| 17 | g.61847146T= | CA2269198531 | BRIP1 | c.582A= (p.Lys194=) c.75A= (p.Lys25=) n.2323A= c.*70A= (n.*70A=) c.99A= (p.Lys33=) | |
| 17 | g.61847147T>A | CA400482999 | BRIP1 | c.581A>T (p.Lys194Ile) c.74A>T (p.Lys25Ile) n.2322A>T c.*69A>T (n.*69A>T) c.98A>T (p.Lys33Ile) | dbSNP |
| 17 | g.61847147T>C | CA400483002 | BRIP1 | c.581A>G (p.Lys194Arg) c.74A>G (p.Lys25Arg) n.2322A>G c.*69A>G (n.*69A>G) c.98A>G (p.Lys33Arg) | |
| 17 | g.61847147T>G | CA400483004 | BRIP1 | c.581A>C (p.Lys194Thr) c.74A>C (p.Lys25Thr) n.2322A>C c.*69A>C (n.*69A>C) c.98A>C (p.Lys33Thr) | |
| 17 | g.61847148T>A | CA400483007 | BRIP1 | c.580A>T (p.Lys194Ter) c.73A>T (p.Lys25Ter) n.2321A>T c.*68A>T (n.*68A>T) c.97A>T (p.Lys33Ter) | dbSNP |
| 17 | g.61847148T>C | CA400483009 | BRIP1 | c.580A>G (p.Lys194Glu) c.73A>G (p.Lys25Glu) n.2321A>G c.*68A>G (n.*68A>G) c.97A>G (p.Lys33Glu) | gnomAD v4 |
| 17 | g.61847148T>G | CA400483011 | BRIP1 | c.580A>C (p.Lys194Gln) c.73A>C (p.Lys25Gln) n.2321A>C c.*68A>C (n.*68A>C) c.97A>C (p.Lys33Gln) | |
| 17 | g.61847149T>A | CA501150629 | BRIP1 | c.579A>T (p.Val193=) c.72A>T (p.Val24=) n.2320A>T c.*67A>T (n.*67A>T) c.96A>T (p.Val32=) | |
| 17 | g.61847149T>C | CA501150630 | BRIP1 | c.579A>G (p.Val193=) c.72A>G (p.Val24=) n.2320A>G c.*67A>G (n.*67A>G) c.96A>G (p.Val32=) | ClinVar dbSNP |
| 17 | g.61847149T>G | CA501150631 | BRIP1 | c.579A>C (p.Val193=) c.72A>C (p.Val24=) n.2320A>C c.*67A>C (n.*67A>C) c.96A>C (p.Val32=) | |
| 17 | g.61847150A>C | CA400483019 | BRIP1 | c.578T>G (p.Val193Gly) c.71T>G (p.Val24Gly) n.2319T>G c.*66T>G (n.*66T>G) c.95T>G (p.Val32Gly) | dbSNP |
| 17 | g.61847150A>G | CA400483014 | BRIP1 | c.578T>C (p.Val193Ala) c.71T>C (p.Val24Ala) n.2319T>C c.*66T>C (n.*66T>C) c.95T>C (p.Val32Ala) | |
| 17 | g.61847150A>T | CA400483016 | BRIP1 | c.578T>A (p.Val193Glu) c.71T>A (p.Val24Glu) n.2319T>A c.*66T>A (n.*66T>A) c.95T>A (p.Val32Glu) | dbSNP |
| 17 | g.61847151C>A | CA400483021 | BRIP1 | c.577G>T (p.Val193Leu) c.70G>T (p.Val24Leu) n.2318G>T c.*65G>T (n.*65G>T) c.94G>T (p.Val32Leu) | dbSNP |
| 17 | g.61847151C= | CA2269198532 | BRIP1 | c.577G= (p.Val193=) c.70G= (p.Val24=) n.2318G= c.*65G= (n.*65G=) c.94G= (p.Val32=) | |
| 17 | g.61847151C>G | CA400483024 | BRIP1 | c.577G>C (p.Val193Leu) c.70G>C (p.Val24Leu) n.2318G>C c.*65G>C (n.*65G>C) c.94G>C (p.Val32Leu) | dbSNP |
| 17 | g.61847151C>T | CA157722 | BRIP1 | c.577G>A (p.Val193Ile) c.70G>A (p.Val24Ile) n.2318G>A c.*65G>A (n.*65G>A) c.94G>A (p.Val32Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847151_61847152delinsCA | CA2269198533 | BRIP1 | c.576_577delinsTG (p.Thr192=) c.69_70delinsTG (p.Thr23=) n.2317_2318delinsTG c.*64_*65delinsTG (n.*64_*65delinsTG) c.93_94delinsTG (p.Thr31=) | |
| 17 | g.61847152del | CA10580869 | BRIP1 | c.576del (p.Val193Ter) c.69del (p.Val24Ter) n.2317del c.*64del (n.*64del) c.93del (p.Val32Ter) | ClinVar dbSNP |
| 17 | g.61847152A= | CA2269198534 | BRIP1 | c.576T= (p.Thr192=) c.69T= (p.Thr23=) n.2317T= c.*64T= (n.*64T=) c.93T= (p.Thr31=) | |
| 17 | g.61847152A>C | CA501150632 | BRIP1 | c.576T>G (p.Thr192=) c.69T>G (p.Thr23=) n.2317T>G c.*64T>G (n.*64T>G) c.93T>G (p.Thr31=) | |
| 17 | g.61847152A>G | CA8690906 | BRIP1 | c.576T>C (p.Thr192=) c.69T>C (p.Thr23=) n.2317T>C c.*64T>C (n.*64T>C) c.93T>C (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847152A>T | CA501150633 | BRIP1 | c.576T>A (p.Thr192=) c.69T>A (p.Thr23=) n.2317T>A c.*64T>A (n.*64T>A) c.93T>A (p.Thr31=) | dbSNP |
| 17 | g.61847152dup | CA1139665803 | BRIP1 | c.576dup (p.Val193CysfsTer20) c.69dup (p.Val24CysfsTer24) c.576dup (p.Val193CysfsTer24) n.2317dup c.*64dup (n.*64dup) c.93dup (p.Val32CysfsTer24) | ClinVar dbSNP |
| 17 | g.61847153G>A | CA400483032 | BRIP1 | c.575C>T (p.Thr192Ile) c.68C>T (p.Thr23Ile) n.2316C>T c.*63C>T (n.*63C>T) c.92C>T (p.Thr31Ile) | dbSNP gnomAD v2 |
| 17 | g.61847153G>C | CA400483037 | BRIP1 | c.575C>G (p.Thr192Ser) c.68C>G (p.Thr23Ser) n.2316C>G c.*63C>G (n.*63C>G) c.92C>G (p.Thr31Ser) | ClinVar |
| 17 | g.61847153G= | CA2269198535 | BRIP1 | c.575C= (p.Thr192=) c.68C= (p.Thr23=) n.2316C= c.*63C= (n.*63C=) c.92C= (p.Thr31=) | |
| 17 | g.61847153G>T | CA400483034 | BRIP1 | c.575C>A (p.Thr192Asn) c.68C>A (p.Thr23Asn) n.2316C>A c.*63C>A (n.*63C>A) c.92C>A (p.Thr31Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61847154T>A | CA400483040 | BRIP1 | c.574A>T (p.Thr192Ser) c.67A>T (p.Thr23Ser) n.2315A>T c.*62A>T (n.*62A>T) c.91A>T (p.Thr31Ser) | dbSNP |
| 17 | g.61847154T>C | CA400483042 | BRIP1 | c.574A>G (p.Thr192Ala) c.67A>G (p.Thr23Ala) n.2315A>G c.*62A>G (n.*62A>G) c.91A>G (p.Thr31Ala) | |
| 17 | g.61847154T>G | CA400483044 | BRIP1 | c.574A>C (p.Thr192Pro) c.67A>C (p.Thr23Pro) n.2315A>C c.*62A>C (n.*62A>C) c.91A>C (p.Thr31Pro) | ClinVar dbSNP |
| 17 | g.61847154T= | CA2269198536 | BRIP1 | c.574A= (p.Thr192=) c.67A= (p.Thr23=) n.2315A= c.*62A= (n.*62A=) c.91A= (p.Thr31=) | |
| 17 | g.61847155C>A | CA400483047 | BRIP1 | c.573G>T (p.Lys191Asn) c.66G>T (p.Lys22Asn) n.2314G>T c.*61G>T (n.*61G>T) c.90G>T (p.Lys30Asn) | ClinVar dbSNP |
| 17 | g.61847155C= | CA2269198537 | BRIP1 | c.573G= (p.Lys191=) c.66G= (p.Lys22=) n.2314G= c.*61G= (n.*61G=) c.90G= (p.Lys30=) | |
| 17 | g.61847155C>G | CA400483049 | BRIP1 | c.573G>C (p.Lys191Asn) c.66G>C (p.Lys22Asn) n.2314G>C c.*61G>C (n.*61G>C) c.90G>C (p.Lys30Asn) | dbSNP |
| 17 | g.61847155C>T | CA501150634 | BRIP1 | c.573G>A (p.Lys191=) c.66G>A (p.Lys22=) n.2314G>A c.*61G>A (n.*61G>A) c.90G>A (p.Lys30=) | dbSNP |
| 17 | g.61847156T>A | CA400483051 | BRIP1 | c.572A>T (p.Lys191Met) c.65A>T (p.Lys22Met) n.2313A>T c.*60A>T (n.*60A>T) c.89A>T (p.Lys30Met) | |
| 17 | g.61847156T>C | CA8690907 | BRIP1 | c.572A>G (p.Lys191Arg) c.65A>G (p.Lys22Arg) n.2313A>G c.*60A>G (n.*60A>G) c.89A>G (p.Lys30Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.61847156T>G | CA400483054 | BRIP1 | c.572A>C (p.Lys191Thr) c.65A>C (p.Lys22Thr) n.2313A>C c.*60A>C (n.*60A>C) c.89A>C (p.Lys30Thr) | |
| 17 | g.61847156T= | CA2269198538 | BRIP1 | c.572A= (p.Lys191=) c.65A= (p.Lys22=) n.2313A= c.*60A= (n.*60A=) c.89A= (p.Lys30=) | |
| 17 | g.61847157T>A | CA400483057 | BRIP1 | c.571A>T (p.Lys191Ter) c.64A>T (p.Lys22Ter) n.2312A>T c.*59A>T (n.*59A>T) c.88A>T (p.Lys30Ter) | |
| 17 | g.61847157T>C | CA400483060 | BRIP1 | c.571A>G (p.Lys191Glu) c.64A>G (p.Lys22Glu) n.2312A>G c.*59A>G (n.*59A>G) c.88A>G (p.Lys30Glu) | |
| 17 | g.61847157T>G | CA400483062 | BRIP1 | c.571A>C (p.Lys191Gln) c.64A>C (p.Lys22Gln) n.2312A>C c.*59A>C (n.*59A>C) c.88A>C (p.Lys30Gln) | |
| 17 | g.61847158T>A | CA501150638 | BRIP1 | c.570A>T (p.Gly190=) c.63A>T (p.Gly21=) n.2311A>T c.*58A>T (n.*58A>T) c.87A>T (p.Gly29=) | |
| 17 | g.61847158T>C | CA501150639 | BRIP1 | c.570A>G (p.Gly190=) c.63A>G (p.Gly21=) n.2311A>G c.*58A>G (n.*58A>G) c.87A>G (p.Gly29=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847158T>G | CA501150640 | BRIP1 | c.570A>C (p.Gly190=) c.63A>C (p.Gly21=) n.2311A>C c.*58A>C (n.*58A>C) c.87A>C (p.Gly29=) | |
| 17 | g.61847158T= | CA2269198539 | BRIP1 | c.570A= (p.Gly190=) c.63A= (p.Gly21=) n.2311A= c.*58A= (n.*58A=) c.87A= (p.Gly29=) | |
| 17 | g.61847159C>A | CA400483066 | BRIP1 | c.569G>T (p.Gly190Val) c.62G>T (p.Gly21Val) n.2310G>T c.*57G>T (n.*57G>T) c.86G>T (p.Gly29Val) | |
| 17 | g.61847159C= | CA2269198540 | BRIP1 | c.569G= (p.Gly190=) c.62G= (p.Gly21=) n.2310G= c.*57G= (n.*57G=) c.86G= (p.Gly29=) | |
| 17 | g.61847159C>G | CA400483069 | BRIP1 | c.569G>C (p.Gly190Ala) c.62G>C (p.Gly21Ala) n.2310G>C c.*57G>C (n.*57G>C) c.86G>C (p.Gly29Ala) | dbSNP |
| 17 | g.61847159C>T | CA8690908 | BRIP1 | c.569G>A (p.Gly190Glu) c.62G>A (p.Gly21Glu) n.2310G>A c.*57G>A (n.*57G>A) c.86G>A (p.Gly29Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.61847160C>A | CA400483074 | BRIP1 | c.568G>T (p.Gly190Ter) c.61G>T (p.Gly21Ter) n.2309G>T c.*56G>T (n.*56G>T) c.85G>T (p.Gly29Ter) | ClinVar dbSNP |
| 17 | g.61847160C>G | CA400483072 | BRIP1 | c.568G>C (p.Gly190Arg) c.61G>C (p.Gly21Arg) n.2309G>C c.*56G>C (n.*56G>C) c.85G>C (p.Gly29Arg) | ClinVar dbSNP |
| 17 | g.61847160C>T | CA400483076 | BRIP1 | c.568G>A (p.Gly190Arg) c.61G>A (p.Gly21Arg) n.2309G>A c.*56G>A (n.*56G>A) c.85G>A (p.Gly29Arg) | ClinVar dbSNP |
| 17 | g.61847161T>A | CA501150641 | BRIP1 | c.567A>T (p.Ser189=) c.60A>T (p.Ser20=) n.2308A>T c.*55A>T (n.*55A>T) c.84A>T (p.Ser28=) | dbSNP |
| 17 | g.61847161T>C | CA501150642 | BRIP1 | c.567A>G (p.Ser189=) c.60A>G (p.Ser20=) n.2308A>G c.*55A>G (n.*55A>G) c.84A>G (p.Ser28=) | dbSNP |
| 17 | g.61847161T>G | CA501150643 | BRIP1 | c.567A>C (p.Ser189=) c.60A>C (p.Ser20=) n.2308A>C c.*55A>C (n.*55A>C) c.84A>C (p.Ser28=) | |
| 17 | g.61847162G>A | CA400483079 | BRIP1 | c.566C>T (p.Ser189Leu) c.59C>T (p.Ser20Leu) n.2307C>T c.*54C>T (n.*54C>T) c.83C>T (p.Ser28Leu) | ClinVar dbSNP |
| 17 | g.61847162G>C | CA400483082 | BRIP1 | c.566C>G (p.Ser189Ter) c.59C>G (p.Ser20Ter) n.2307C>G c.*54C>G (n.*54C>G) c.83C>G (p.Ser28Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847162G= | CA2269198541 | BRIP1 | c.566C= (p.Ser189=) c.59C= (p.Ser20=) n.2307C= c.*54C= (n.*54C=) c.83C= (p.Ser28=) | |
| 17 | g.61847162G>T | CA400483081 | BRIP1 | c.566C>A (p.Ser189Ter) c.59C>A (p.Ser20Ter) n.2307C>A c.*54C>A (n.*54C>A) c.83C>A (p.Ser28Ter) | ClinVar |
| 17 | g.61847163A>C | CA400483084 | BRIP1 | c.565T>G (p.Ser189Ala) c.58T>G (p.Ser20Ala) n.2306T>G c.*53T>G (n.*53T>G) c.82T>G (p.Ser28Ala) | |
| 17 | g.61847163A>G | CA400483088 | BRIP1 | c.565T>C (p.Ser189Pro) c.58T>C (p.Ser20Pro) n.2306T>C c.*53T>C (n.*53T>C) c.82T>C (p.Ser28Pro) | |
| 17 | g.61847163A>T | CA400483086 | BRIP1 | c.565T>A (p.Ser189Thr) c.58T>A (p.Ser20Thr) n.2306T>A c.*53T>A (n.*53T>A) c.82T>A (p.Ser28Thr) | dbSNP |
| 17 | g.61847164A>C | CA400483089 | BRIP1 | c.564T>G (p.Asp188Glu) c.57T>G (p.Asp19Glu) n.2305T>G c.*52T>G (n.*52T>G) c.81T>G (p.Asp27Glu) | |
| 17 | g.61847164A>G | CA501150644 | BRIP1 | c.564T>C (p.Asp188=) c.57T>C (p.Asp19=) n.2305T>C c.*52T>C (n.*52T>C) c.81T>C (p.Asp27=) | |
| 17 | g.61847164A>T | CA400483091 | BRIP1 | c.564T>A (p.Asp188Glu) c.57T>A (p.Asp19Glu) n.2305T>A c.*52T>A (n.*52T>A) c.81T>A (p.Asp27Glu) | dbSNP |
| 17 | g.61847165T>A | CA400483094 | BRIP1 | c.563A>T (p.Asp188Val) c.56A>T (p.Asp19Val) n.2304A>T c.*51A>T (n.*51A>T) c.80A>T (p.Asp27Val) | dbSNP gnomAD v4 |
| 17 | g.61847165T>C | CA400483097 | BRIP1 | c.563A>G (p.Asp188Gly) c.56A>G (p.Asp19Gly) n.2304A>G c.*51A>G (n.*51A>G) c.80A>G (p.Asp27Gly) | |
| 17 | g.61847165T>G | CA400483098 | BRIP1 | c.563A>C (p.Asp188Ala) c.56A>C (p.Asp19Ala) n.2304A>C c.*51A>C (n.*51A>C) c.80A>C (p.Asp27Ala) | |
| 17 | g.61847166C>A | CA400483102 | BRIP1 | c.562G>T (p.Asp188Tyr) c.55G>T (p.Asp19Tyr) n.2303G>T c.*50G>T (n.*50G>T) c.79G>T (p.Asp27Tyr) | gnomAD v4 |
| 17 | g.61847166C>G | CA400483104 | BRIP1 | c.562G>C (p.Asp188His) c.55G>C (p.Asp19His) n.2303G>C c.*50G>C (n.*50G>C) c.79G>C (p.Asp27His) | dbSNP gnomAD v4 |
| 17 | g.61847166C>T | CA400483106 | BRIP1 | c.562G>A (p.Asp188Asn) c.55G>A (p.Asp19Asn) n.2303G>A c.*50G>A (n.*50G>A) c.79G>A (p.Asp27Asn) | dbSNP |
| 17 | g.61847167A= | CA2269198542 | BRIP1 | c.561T= (p.Val187=) c.54T= (p.Val18=) n.2302T= c.*49T= (n.*49T=) c.78T= (p.Val26=) | |
| 17 | g.61847167A>C | CA501150646 | BRIP1 | c.561T>G (p.Val187=) c.54T>G (p.Val18=) n.2302T>G c.*49T>G (n.*49T>G) c.78T>G (p.Val26=) | |
| 17 | g.61847167A>G | CA189606 | BRIP1 | c.561T>C (p.Val187=) c.54T>C (p.Val18=) n.2302T>C c.*49T>C (n.*49T>C) c.78T>C (p.Val26=) | ClinVar dbSNP |
| 17 | g.61847167A>T | CA501150645 | BRIP1 | c.561T>A (p.Val187=) c.54T>A (p.Val18=) n.2302T>A c.*49T>A (n.*49T>A) c.78T>A (p.Val26=) | |
| 17 | g.61847168del | CA2582342229 | BRIP1 | c.561del (p.Asp188IlefsTer6) c.54del (p.Asp19IlefsTer6) n.2302del c.*49del (n.*49del) c.78del (p.Asp27IlefsTer6) | ClinVar |
| 17 | g.61847168A= | CA2269198543 | BRIP1 | c.560T= (p.Val187=) c.53T= (p.Val18=) n.2301T= c.*48T= (n.*48T=) c.77T= (p.Val26=) | |
| 17 | g.61847168A>C | CA400483109 | BRIP1 | c.560T>G (p.Val187Gly) c.53T>G (p.Val18Gly) n.2301T>G c.*48T>G (n.*48T>G) c.77T>G (p.Val26Gly) | |
| 17 | g.61847168A>G | CA400483112 | BRIP1 | c.560T>C (p.Val187Ala) c.53T>C (p.Val18Ala) n.2301T>C c.*48T>C (n.*48T>C) c.77T>C (p.Val26Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.61847168A>T | CA400483114 | BRIP1 | c.560T>A (p.Val187Asp) c.53T>A (p.Val18Asp) n.2301T>A c.*48T>A (n.*48T>A) c.77T>A (p.Val26Asp) | dbSNP |
| 17 | g.61847169C>A | CA10580870 | BRIP1 | c.559G>T (p.Val187Phe) c.52G>T (p.Val18Phe) n.2300G>T c.*47G>T (n.*47G>T) c.76G>T (p.Val26Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61847169C= | CA2269198544 | BRIP1 | c.559G= (p.Val187=) c.52G= (p.Val18=) n.2300G= c.*47G= (n.*47G=) c.76G= (p.Val26=) | |
| 17 | g.61847169C>G | CA400483119 | BRIP1 | c.559G>C (p.Val187Leu) c.52G>C (p.Val18Leu) n.2300G>C c.*47G>C (n.*47G>C) c.76G>C (p.Val26Leu) | |
| 17 | g.61847169C>T | CA400483118 | BRIP1 | c.559G>A (p.Val187Ile) c.52G>A (p.Val18Ile) n.2300G>A c.*47G>A (n.*47G>A) c.76G>A (p.Val26Ile) | ClinVar |
| 17 | g.61847170T>A | CA400483123 | BRIP1 | c.558A>T (p.Lys186Asn) c.51A>T (p.Lys17Asn) n.2299A>T c.*46A>T (n.*46A>T) c.75A>T (p.Lys25Asn) | dbSNP |
| 17 | g.61847170T>C | CA501150649 | BRIP1 | c.558A>G (p.Lys186=) c.51A>G (p.Lys17=) n.2299A>G c.*46A>G (n.*46A>G) c.75A>G (p.Lys25=) | |
| 17 | g.61847170T>G | CA400483124 | BRIP1 | c.558A>C (p.Lys186Asn) c.51A>C (p.Lys17Asn) n.2299A>C c.*46A>C (n.*46A>C) c.75A>C (p.Lys25Asn) | |
| 17 | g.61847173del | CA2582342230 | BRIP1 | c.558del (p.Val187LeufsTer7) c.51del (p.Val18LeufsTer7) n.2299del c.*46del (n.*46del) c.75del (p.Val26LeufsTer7) | ClinVar |
| 17 | g.61847171T>A | CA400483126 | BRIP1 | c.557A>T (p.Lys186Ile) c.50A>T (p.Lys17Ile) n.2298A>T c.*45A>T (n.*45A>T) c.74A>T (p.Lys25Ile) | dbSNP |
| 17 | g.61847171T>C | CA400483128 | BRIP1 | c.557A>G (p.Lys186Arg) c.50A>G (p.Lys17Arg) n.2298A>G c.*45A>G (n.*45A>G) c.74A>G (p.Lys25Arg) | |
| 17 | g.61847171T>G | CA400483129 | BRIP1 | c.557A>C (p.Lys186Thr) c.50A>C (p.Lys17Thr) n.2298A>C c.*45A>C (n.*45A>C) c.74A>C (p.Lys25Thr) | |
| 17 | g.61847172T>A | CA400483133 | BRIP1 | c.556A>T (p.Lys186Ter) c.49A>T (p.Lys17Ter) n.2297A>T c.*44A>T (n.*44A>T) c.73A>T (p.Lys25Ter) | |
| 17 | g.61847172T>C | CA298831 | BRIP1 | c.556A>G (p.Lys186Glu) c.49A>G (p.Lys17Glu) n.2297A>G c.*44A>G (n.*44A>G) c.73A>G (p.Lys25Glu) | ClinVar dbSNP |
| 17 | g.61847172T>G | CA400483136 | BRIP1 | c.556A>C (p.Lys186Gln) c.49A>C (p.Lys17Gln) n.2297A>C c.*44A>C (n.*44A>C) c.73A>C (p.Lys25Gln) | ClinVar dbSNP |
| 17 | g.61847172T= | CA2269198545 | BRIP1 | c.556A= (p.Lys186=) c.49A= (p.Lys17=) n.2297A= c.*44A= (n.*44A=) c.73A= (p.Lys25=) | |
| 17 | g.61847173T>A | CA501150650 | BRIP1 | c.555A>T (p.Ala185=) c.48A>T (p.Ala16=) n.2296A>T c.*43A>T (n.*43A>T) c.72A>T (p.Ala24=) | dbSNP |
| 17 | g.61847173T>C | CA501150651 | BRIP1 | c.555A>G (p.Ala185=) c.48A>G (p.Ala16=) n.2296A>G c.*43A>G (n.*43A>G) c.72A>G (p.Ala24=) | |
| 17 | g.61847173T>G | CA8690909 | BRIP1 | c.555A>C (p.Ala185=) c.48A>C (p.Ala16=) n.2296A>C c.*43A>C (n.*43A>C) c.72A>C (p.Ala24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.61847173T= | CA2269198546 | BRIP1 | c.555A= (p.Ala185=) c.48A= (p.Ala16=) n.2296A= c.*43A= (n.*43A=) c.72A= (p.Ala24=) | |
| 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 |
| 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 |