Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
13 | g.32337211A>C | CA483437537 | BRCA2 | c.2856A>C (p.Ala952=) c.2487A>C (p.Ala829=) n.2856A>C | |
13 | g.32337211A>G | CA483437538 | BRCA2 | c.2856A>G (p.Ala952=) c.2487A>G (p.Ala829=) n.2856A>G | dbSNP |
13 | g.32337211A>T | CA483437539 | BRCA2 | c.2856A>T (p.Ala952=) c.2487A>T (p.Ala829=) n.2856A>T | dbSNP |
13 | g.32337211_32337214delinsAGAG | CA2082812077 | BRCA2 | c.2856_2859delinsAGAG (p.Ala952=) c.2487_2490delinsAGAG (p.Ala829=) n.2856_2859delinsAGAG | |
13 | g.32337212G>A | CA387773951 | BRCA2 | c.2857G>A (p.Glu953Lys) c.2488G>A (p.Glu830Lys) n.2857G>A | dbSNP |
13 | g.32337212G>C | CA387773953 | BRCA2 | c.2857G>C (p.Glu953Gln) c.2488G>C (p.Glu830Gln) n.2857G>C | dbSNP |
13 | g.32337212G>T | CA387773955 | BRCA2 | c.2857G>T (p.Glu953Ter) c.2488G>T (p.Glu830Ter) n.2857G>T | |
13 | g.32337212_32337213delinsGA | CA2082812092 | BRCA2 | c.2857_2858delinsGA (p.Glu953=) c.2488_2489delinsGA (p.Glu830=) n.2857_2858delinsGA | |
13 | g.32337215_32337217del | CA016637 | BRCA2 | c.2860_2862del (p.Glu954del) c.2491_2493del (p.Glu831del) n.2860_2862del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337213del | CA10589176 | BRCA2 | c.2858del (p.Glu953GlyfsTer7) c.2489del (p.Glu830GlyfsTer7) n.2858del | ClinVar dbSNP |
13 | g.32337213A= | CA2082812097 | BRCA2 | c.2858A= (p.Glu953=) c.2489A= (p.Glu830=) n.2858A= | |
13 | g.32337213A>C | CA387773965 | BRCA2 | c.2858A>C (p.Glu953Ala) c.2489A>C (p.Glu830Ala) n.2858A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337213A>G | CA387773958 | BRCA2 | c.2858A>G (p.Glu953Gly) c.2489A>G (p.Glu830Gly) n.2858A>G | dbSNP |
13 | g.32337213A>T | CA387773961 | BRCA2 | c.2858A>T (p.Glu953Val) c.2489A>T (p.Glu830Val) n.2858A>T | dbSNP |
13 | g.32337213_32337214delinsAG | CA2082812100 | BRCA2 | c.2858_2859delinsAG (p.Glu953=) c.2489_2490delinsAG (p.Glu830=) n.2858_2859delinsAG | |
13 | g.32337214G>A | CA483437544 | BRCA2 | c.2859G>A (p.Glu953=) c.2490G>A (p.Glu830=) n.2859G>A | dbSNP |
13 | g.32337214G>C | CA387773967 | BRCA2 | c.2859G>C (p.Glu953Asp) c.2490G>C (p.Glu830Asp) n.2859G>C | dbSNP |
13 | g.32337214G= | CA2082812113 | BRCA2 | c.2859G= (p.Glu953=) c.2490G= (p.Glu830=) n.2859G= | |
13 | g.32337214G>T | CA387773969 | BRCA2 | c.2859G>T (p.Glu953Asp) c.2490G>T (p.Glu830Asp) n.2859G>T | dbSNP |
13 | g.32337215del | CA915948442 | BRCA2 | c.2860del (p.Glu954ArgfsTer6) c.2491del (p.Glu831ArgfsTer6) n.2860del | ClinVar dbSNP |
13 | g.32337215G>A | CA387773971 | BRCA2 | c.2860G>A (p.Glu954Lys) c.2491G>A (p.Glu831Lys) n.2860G>A | ClinVar dbSNP |
13 | g.32337215G>C | CA387773972 | BRCA2 | c.2860G>C (p.Glu954Gln) c.2491G>C (p.Glu831Gln) n.2860G>C | dbSNP |
13 | g.32337215G= | CA2082812118 | BRCA2 | c.2860G= (p.Glu954=) c.2491G= (p.Glu831=) n.2860G= | |
13 | g.32337215G>T | CA387773975 | BRCA2 | c.2860G>T (p.Glu954Ter) c.2491G>T (p.Glu831Ter) n.2860G>T | ClinVar dbSNP |
13 | g.32337216A= | CA2082812126 | BRCA2 | c.2861A= (p.Glu954=) c.2492A= (p.Glu831=) n.2861A= | |
13 | g.32337216A>C | CA387773977 | BRCA2 | c.2861A>C (p.Glu954Ala) c.2492A>C (p.Glu831Ala) n.2861A>C | gnomAD v4 |
13 | g.32337216A>G | CA387773978 | BRCA2 | c.2861A>G (p.Glu954Gly) c.2492A>G (p.Glu831Gly) n.2861A>G | ClinVar dbSNP |
13 | g.32337216A>T | CA387773980 | BRCA2 | c.2861A>T (p.Glu954Val) c.2492A>T (p.Glu831Val) n.2861A>T | dbSNP |
13 | g.32337217G>A | CA6940637 | BRCA2 | c.2862G>A (p.Glu954=) c.2493G>A (p.Glu831=) n.2862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337217G>C | CA387773984 | BRCA2 | c.2862G>C (p.Glu954Asp) c.2493G>C (p.Glu831Asp) n.2862G>C | dbSNP |
13 | g.32337217G= | CA2082812135 | BRCA2 | c.2862G= (p.Glu954=) c.2493G= (p.Glu831=) n.2862G= | |
13 | g.32337217G>T | CA387773982 | BRCA2 | c.2862G>T (p.Glu954Asp) c.2493G>T (p.Glu831Asp) n.2862G>T | dbSNP |
13 | g.32337218A>C | CA387773989 | BRCA2 | c.2863A>C (p.Asn955His) c.2494A>C (p.Asn832His) n.2863A>C | dbSNP |
13 | g.32337218A>G | CA387773991 | BRCA2 | c.2863A>G (p.Asn955Asp) c.2494A>G (p.Asn832Asp) n.2863A>G | dbSNP |
13 | g.32337218A>T | CA387773992 | BRCA2 | c.2863A>T (p.Asn955Tyr) c.2494A>T (p.Asn832Tyr) n.2863A>T | dbSNP |
13 | g.32337219A= | CA2082812146 | BRCA2 | c.2864A= (p.Asn955=) c.2495A= (p.Asn832=) n.2864A= | |
13 | g.32337219A>C | CA387773995 | BRCA2 | c.2864A>C (p.Asn955Thr) c.2495A>C (p.Asn832Thr) n.2864A>C | |
13 | g.32337219A>G | CA16613941 | BRCA2 | c.2864A>G (p.Asn955Ser) c.2495A>G (p.Asn832Ser) n.2864A>G | ClinVar dbSNP |
13 | g.32337219A>T | CA387773997 | BRCA2 | c.2864A>T (p.Asn955Ile) c.2495A>T (p.Asn832Ile) n.2864A>T | dbSNP |
13 | g.32337220C>A | CA387774000 | BRCA2 | c.2865C>A (p.Asn955Lys) c.2496C>A (p.Asn832Lys) n.2865C>A | dbSNP gnomAD v4 |
13 | g.32337220C>G | CA387773998 | BRCA2 | c.2865C>G (p.Asn955Lys) c.2496C>G (p.Asn832Lys) n.2865C>G | ClinVar dbSNP |
13 | g.32337220C>T | CA483437068 | BRCA2 | c.2865C>T (p.Asn955=) c.2496C>T (p.Asn832=) n.2865C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337220_32337221delinsCA | CA2082812154 | BRCA2 | c.2865_2866delinsCA (p.Asn955=) c.2496_2497delinsCA (p.Asn832=) n.2865_2866delinsCA | |
13 | g.32337221A>C | CA387774003 | BRCA2 | c.2866A>C (p.Lys956Gln) c.2497A>C (p.Lys833Gln) n.2866A>C | dbSNP |
13 | g.32337221A>G | CA387774005 | BRCA2 | c.2866A>G (p.Lys956Glu) c.2497A>G (p.Lys833Glu) n.2866A>G | |
13 | g.32337221A>T | CA387774006 | BRCA2 | c.2866A>T (p.Lys956Ter) c.2497A>T (p.Lys833Ter) n.2866A>T | |
13 | g.32337225dup | CA2582341841 | BRCA2 | c.2870dup (p.Asn957LysfsTer2) c.2501dup (p.Asn834LysfsTer2) n.2870dup | ClinVar |
13 | g.32337225del | CA016645 | BRCA2 | c.2870del (p.Asn957IlefsTer3) c.2501del (p.Asn834IlefsTer3) n.2870del | ClinVar dbSNP |
13 | g.32337224_32337225del | CA2695218019 | BRCA2 | c.2869_2870del (p.Asn957Ter) c.2500_2501del (p.Asn834Ter) n.2869_2870del | |
13 | g.32337222A= | CA2082812169 | BRCA2 | c.2867A= (p.Lys956=) c.2498A= (p.Lys833=) n.2867A= | |
13 | g.32337222A>C | CA387774009 | BRCA2 | c.2867A>C (p.Lys956Thr) c.2498A>C (p.Lys833Thr) n.2867A>C | COSMIC COSMIC |
13 | g.32337222A>G | CA6940638 | BRCA2 | c.2867A>G (p.Lys956Arg) c.2498A>G (p.Lys833Arg) n.2867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337222A>T | CA387774011 | BRCA2 | c.2867A>T (p.Lys956Ile) c.2498A>T (p.Lys833Ile) n.2867A>T | dbSNP |
13 | g.32337223A= | CA2082812179 | BRCA2 | c.2868A= (p.Lys956=) c.2499A= (p.Lys833=) n.2868A= | |
13 | g.32337223A>C | CA387774013 | BRCA2 | c.2868A>C (p.Lys956Asn) c.2499A>C (p.Lys833Asn) n.2868A>C | dbSNP |
13 | g.32337223A>G | CA483437075 | BRCA2 | c.2868A>G (p.Lys956=) c.2499A>G (p.Lys833=) n.2868A>G | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
13 | g.32337223A>T | CA387774014 | BRCA2 | c.2868A>T (p.Lys956Asn) c.2499A>T (p.Lys833Asn) n.2868A>T | dbSNP |
13 | g.32337223_32337224insCCAAACACACCCAACAC | CA2798719286 | BRCA2 | c.2868_2869insCCAAACACACCCAACAC (p.Asn957ProfsTer9) c.2499_2500insCCAAACACACCCAACAC (p.Asn834ProfsTer9) n.2868_2869insCCAAACACACCCAACAC | |
13 | g.32337224A>C | CA387774015 | BRCA2 | c.2869A>C (p.Asn957His) c.2500A>C (p.Asn834His) n.2869A>C | |
13 | g.32337224A>G | CA387774016 | BRCA2 | c.2869A>G (p.Asn957Asp) c.2500A>G (p.Asn834Asp) n.2869A>G | dbSNP |
13 | g.32337224A>T | CA387774017 | BRCA2 | c.2869A>T (p.Asn957Tyr) c.2500A>T (p.Asn834Tyr) n.2869A>T | dbSNP |
13 | g.32337224_32337225insCCAAACACACCCAACAC | CA2798719293 | BRCA2 | c.2869_2870insCCAAACACACCCAACAC (p.Asn957ThrfsTer9) c.2500_2501insCCAAACACACCCAACAC (p.Asn834ThrfsTer9) n.2869_2870insCCAAACACACCCAACAC | |
13 | g.32337225A= | CA2082812187 | BRCA2 | c.2870A= (p.Asn957=) c.2501A= (p.Asn834=) n.2870A= | |
13 | g.32337225A>C | CA387774019 | BRCA2 | c.2870A>C (p.Asn957Thr) c.2501A>C (p.Asn834Thr) n.2870A>C | |
13 | g.32337225A>G | CA387774021 | BRCA2 | c.2870A>G (p.Asn957Ser) c.2501A>G (p.Asn834Ser) n.2870A>G | ClinVar dbSNP |
13 | g.32337225A>T | CA387774022 | BRCA2 | c.2870A>T (p.Asn957Ile) c.2501A>T (p.Asn834Ile) n.2870A>T | |
13 | g.32337225_32337226insCCAAACACACCCAACACA | CA2798719292 | BRCA2 | c.2870_2871insCCAAACACACCCAACACA (p.Asn957_Ser958insGlnThrHisProThrHis) c.2501_2502insCCAAACACACCCAACACA (p.Asn834_Ser835insGlnThrHisProThrHis) n.2870_2871insCCAAACACACCCAACACA | |
13 | g.32337226T>A | CA387774023 | BRCA2 | c.2871T>A (p.Asn957Lys) c.2502T>A (p.Asn834Lys) n.2871T>A | dbSNP |
13 | g.32337226T>C | CA483437076 | BRCA2 | c.2871T>C (p.Asn957=) c.2502T>C (p.Asn834=) n.2871T>C | ClinVar dbSNP |
13 | g.32337226T>G | CA387774024 | BRCA2 | c.2871T>G (p.Asn957Lys) c.2502T>G (p.Asn834Lys) n.2871T>G | dbSNP |
13 | g.32337226T= | CA2082812195 | BRCA2 | c.2871T= (p.Asn957=) c.2502T= (p.Asn834=) n.2871T= | |
13 | g.32337227del | CA2695199255 | BRCA2 | c.2872del (p.Ser958ValfsTer2) c.2503del (p.Ser835ValfsTer2) n.2872del | ClinVar |
13 | g.32337227A= | CA2082812206 | BRCA2 | c.2872A= (p.Ser958=) c.2503A= (p.Ser835=) n.2872A= | |
13 | g.32337227A>C | CA387774031 | BRCA2 | c.2872A>C (p.Ser958Arg) c.2503A>C (p.Ser835Arg) n.2872A>C | |
13 | g.32337227A>G | CA016655 | BRCA2 | c.2872A>G (p.Ser958Gly) c.2503A>G (p.Ser835Gly) n.2872A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337227A>T | CA387774034 | BRCA2 | c.2872A>T (p.Ser958Cys) c.2503A>T (p.Ser835Cys) n.2872A>T | ClinVar dbSNP |
13 | g.32337228G>A | CA387774040 | BRCA2 | c.2873G>A (p.Ser958Asn) c.2504G>A (p.Ser835Asn) n.2873G>A | ClinVar dbSNP |
13 | g.32337228G>C | CA387774039 | BRCA2 | c.2873G>C (p.Ser958Thr) c.2504G>C (p.Ser835Thr) n.2873G>C | dbSNP |
13 | g.32337228G>T | CA387774037 | BRCA2 | c.2873G>T (p.Ser958Ile) c.2504G>T (p.Ser835Ile) n.2873G>T | dbSNP |
13 | g.32337229T>A | CA387774042 | BRCA2 | c.2874T>A (p.Ser958Arg) c.2505T>A (p.Ser835Arg) n.2874T>A | dbSNP |
13 | g.32337229T>C | CA483437081 | BRCA2 | c.2874T>C (p.Ser958=) c.2505T>C (p.Ser835=) n.2874T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337229T>G | CA387774044 | BRCA2 | c.2874T>G (p.Ser958Arg) c.2505T>G (p.Ser835Arg) n.2874T>G | ClinVar dbSNP |
13 | g.32337229T= | CA2082812215 | BRCA2 | c.2874T= (p.Ser958=) c.2505T= (p.Ser835=) n.2874T= | |
13 | g.32337230G>A | CA387774046 | BRCA2 | c.2875G>A (p.Val959Ile) c.2506G>A (p.Val836Ile) n.2875G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337230G>C | CA387774048 | BRCA2 | c.2875G>C (p.Val959Leu) c.2506G>C (p.Val836Leu) n.2875G>C | dbSNP |
13 | g.32337230G= | CA2082812221 | BRCA2 | c.2875G= (p.Val959=) c.2506G= (p.Val836=) n.2875G= | |
13 | g.32337230G>T | CA387774050 | BRCA2 | c.2875G>T (p.Val959Leu) c.2506G>T (p.Val836Leu) n.2875G>T | dbSNP |
13 | g.32337231T>A | CA387774052 | BRCA2 | c.2876T>A (p.Val959Glu) c.2507T>A (p.Val836Glu) n.2876T>A | |
13 | g.32337231T>C | CA387774053 | BRCA2 | c.2876T>C (p.Val959Ala) c.2507T>C (p.Val836Ala) n.2876T>C | ClinVar gnomAD v4 |
13 | g.32337231T>G | CA387774055 | BRCA2 | c.2876T>G (p.Val959Gly) c.2507T>G (p.Val836Gly) n.2876T>G | |
13 | g.32337232A>C | CA483437090 | BRCA2 | c.2877A>C (p.Val959=) c.2508A>C (p.Val836=) n.2877A>C | |
13 | g.32337232A>G | CA483437091 | BRCA2 | c.2877A>G (p.Val959=) c.2508A>G (p.Val836=) n.2877A>G | |
13 | g.32337232A>T | CA483437093 | BRCA2 | c.2877A>T (p.Val959=) c.2508A>T (p.Val836=) n.2877A>T | dbSNP |
13 | g.32337233A= | CA2082812228 | BRCA2 | c.2878A= (p.Lys960=) c.2509A= (p.Lys837=) n.2878A= | |
13 | g.32337233A>C | CA387774058 | BRCA2 | c.2878A>C (p.Lys960Gln) c.2509A>C (p.Lys837Gln) n.2878A>C | ClinVar |
13 | g.32337233A>G | CA10579554 | BRCA2 | c.2878A>G (p.Lys960Glu) c.2509A>G (p.Lys837Glu) n.2878A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337233A>T | CA387774060 | BRCA2 | c.2878A>T (p.Lys960Ter) c.2509A>T (p.Lys837Ter) n.2878A>T | |
13 | g.32337234A>C | CA387774062 | BRCA2 | c.2879A>C (p.Lys960Thr) c.2510A>C (p.Lys837Thr) n.2879A>C | |
13 | g.32337234A>G | CA387774064 | BRCA2 | c.2879A>G (p.Lys960Arg) c.2510A>G (p.Lys837Arg) n.2879A>G | dbSNP |
13 | g.32337234A>T | CA387774065 | BRCA2 | c.2879A>T (p.Lys960Met) c.2510A>T (p.Lys837Met) n.2879A>T | dbSNP |
13 | g.32337234_32337235delinsAG | CA2082812238 | BRCA2 | c.2879_2880delinsAG (p.Lys960=) c.2510_2511delinsAG (p.Lys837=) n.2879_2880delinsAG | |
13 | g.32337235del | CA10589177 | BRCA2 | c.2880del (p.Lys960AsnfsTer4) c.2511del (p.Lys837AsnfsTer4) n.2880del | ClinVar dbSNP |
13 | g.32337235G>A | CA483437096 | BRCA2 | c.2880G>A (p.Lys960=) c.2511G>A (p.Lys837=) n.2880G>A | ClinVar dbSNP |
13 | g.32337235G>C | CA247503235 | BRCA2 | c.2880G>C (p.Lys960Asn) c.2511G>C (p.Lys837Asn) n.2880G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337235G= | CA2082812258 | BRCA2 | c.2880G= (p.Lys960=) c.2511G= (p.Lys837=) n.2880G= | |
13 | g.32337235G>T | CA387774068 | BRCA2 | c.2880G>T (p.Lys960Asn) c.2511G>T (p.Lys837Asn) n.2880G>T | dbSNP |
13 | g.32337236C>A | CA387774072 | BRCA2 | c.2881C>A (p.Gln961Lys) c.2512C>A (p.Gln838Lys) n.2881C>A | dbSNP |
13 | g.32337236C= | CA2082812277 | BRCA2 | c.2881C= (p.Gln961=) c.2512C= (p.Gln838=) n.2881C= | |
13 | g.32337236C>G | CA016663 | BRCA2 | c.2881C>G (p.Gln961Glu) c.2512C>G (p.Gln838Glu) n.2881C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337236C>T | CA016668 | BRCA2 | c.2881C>T (p.Gln961Ter) c.2512C>T (p.Gln838Ter) n.2881C>T | ClinVar dbSNP |
13 | g.32337236_32337261delinsCAGCATATAAAAATGACTCTAGGTCA | CA2082812288 | BRCA2 | c.2881_2906delinsCAGCATATAAAAATGACTCTAGGTCA (p.Gln961=) c.2512_2537delinsCAGCATATAAAAATGACTCTAGGTCA (p.Gln838=) n.2881_2906delinsCAGCATATAAAAATGACTCTAGGTCA | |
13 | g.32337237A= | CA2082812306 | BRCA2 | c.2882A= (p.Gln961=) c.2513A= (p.Gln838=) n.2882A= | |
13 | g.32337237A>C | CA387774076 | BRCA2 | c.2882A>C (p.Gln961Pro) c.2513A>C (p.Gln838Pro) n.2882A>C | |
13 | g.32337237A>G | CA387774078 | BRCA2 | c.2882A>G (p.Gln961Arg) c.2513A>G (p.Gln838Arg) n.2882A>G | ClinVar COSMIC COSMIC |
13 | g.32337237A>T | CA387774080 | BRCA2 | c.2882A>T (p.Gln961Leu) c.2513A>T (p.Gln838Leu) n.2882A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337237_32337238delinsAG | CA2082812304 | BRCA2 | c.2882_2883delinsAG (p.Gln961=) c.2513_2514delinsAG (p.Gln838=) n.2882_2883delinsAG | |
13 | g.32337239_32337263del | CA658656395 | BRCA2 | c.2884_2908del (p.His962IlefsTer2) c.2515_2539del (p.His839IlefsTer2) n.2884_2908del | ClinVar dbSNP |
13 | g.32337238del | CA915948443 | BRCA2 | c.2883del (p.Gln961HisfsTer3) c.2514del (p.Gln838HisfsTer3) n.2883del | ClinVar dbSNP |
13 | g.32337238G>A | CA016678 | BRCA2 | c.2883G>A (p.Gln961=) c.2514G>A (p.Gln838=) n.2883G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337238G>C | CA387774083 | BRCA2 | c.2883G>C (p.Gln961His) c.2514G>C (p.Gln838His) n.2883G>C | dbSNP |
13 | g.32337238G= | CA2082812327 | BRCA2 | c.2883G= (p.Gln961=) c.2514G= (p.Gln838=) n.2883G= | |
13 | g.32337238G>T | CA387774084 | BRCA2 | c.2883G>T (p.Gln961His) c.2514G>T (p.Gln838His) n.2883G>T | ClinVar dbSNP |
13 | g.32337239C>A | CA387774086 | BRCA2 | c.2884C>A (p.His962Asn) c.2515C>A (p.His839Asn) n.2884C>A | dbSNP |
13 | g.32337239C= | CA2082812348 | BRCA2 | c.2884C= (p.His962=) c.2515C= (p.His839=) n.2884C= | |
13 | g.32337239C>G | CA387774088 | BRCA2 | c.2884C>G (p.His962Asp) c.2515C>G (p.His839Asp) n.2884C>G | ClinVar dbSNP |
13 | g.32337239C>T | CA6940639 | BRCA2 | c.2884C>T (p.His962Tyr) c.2515C>T (p.His839Tyr) n.2884C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337239_32337498delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | CA2082812358 | BRCA2 | c.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His962=) c.2515_2774delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His839=) n.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | |
13 | g.32337240A= | CA2082812366 | BRCA2 | c.2885A= (p.His962=) c.2516A= (p.His839=) n.2885A= | |
13 | g.32337240A>C | CA387774095 | BRCA2 | c.2885A>C (p.His962Pro) c.2516A>C (p.His839Pro) n.2885A>C | |
13 | g.32337240A>G | CA387774093 | BRCA2 | c.2885A>G (p.His962Arg) c.2516A>G (p.His839Arg) n.2885A>G | dbSNP |
13 | g.32337240A>T | CA387774092 | BRCA2 | c.2885A>T (p.His962Leu) c.2516A>T (p.His839Leu) n.2885A>T | dbSNP |
13 | g.32337240dup | CA2499222120 | BRCA2 | c.2885dup (p.His962GlnfsTer20) c.2516dup (p.His839GlnfsTer20) n.2885dup | ClinVar dbSNP |
13 | g.32337240_32337469delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | CA2082812369 | BRCA2 | c.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His962=) c.2516_2745delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His839=) n.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | |
13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
13 | g.32337241T>A | CA387774099 | BRCA2 | c.2886T>A (p.His962Gln) c.2517T>A (p.His839Gln) n.2886T>A | dbSNP |
13 | g.32337241T>C | CA016683 | BRCA2 | c.2886T>C (p.His962=) c.2517T>C (p.His839=) n.2886T>C | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337241T>G | CA387774098 | BRCA2 | c.2886T>G (p.His962Gln) c.2517T>G (p.His839Gln) n.2886T>G | dbSNP |
13 | g.32337241T= | CA2082812385 | BRCA2 | c.2886T= (p.His962=) c.2517T= (p.His839=) n.2886T= | |
13 | g.32337241dup | CA891842153 | BRCA2 | c.2886dup (p.Ile963TyrfsTer19) c.2517dup (p.Ile840TyrfsTer19) n.2886dup | ClinVar dbSNP |
13 | g.32337241_32337469del | CA1139663130 | BRCA2 | c.2886_3114del (p.Ile963LeufsTer4) c.2517_2745del (p.Ile840LeufsTer4) n.2886_3114del | ClinVar dbSNP |
13 | g.32337242A>C | CA387774101 | BRCA2 | c.2887A>C (p.Ile963Leu) c.2518A>C (p.Ile840Leu) n.2887A>C | |
13 | g.32337242A>G | CA387774103 | BRCA2 | c.2887A>G (p.Ile963Val) c.2518A>G (p.Ile840Val) n.2887A>G | ClinVar |
13 | g.32337242A>T | CA387774105 | BRCA2 | c.2887A>T (p.Ile963Leu) c.2518A>T (p.Ile840Leu) n.2887A>T | dbSNP |
13 | g.32337243T>A | CA387774107 | BRCA2 | c.2888T>A (p.Ile963Lys) c.2519T>A (p.Ile840Lys) n.2888T>A | dbSNP |
13 | g.32337243T>C | CA387774109 | BRCA2 | c.2888T>C (p.Ile963Thr) c.2519T>C (p.Ile840Thr) n.2888T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337243T>G | CA387774111 | BRCA2 | c.2888T>G (p.Ile963Arg) c.2519T>G (p.Ile840Arg) n.2888T>G | dbSNP |
13 | g.32337244A= | CA2082812399 | BRCA2 | c.2889A= (p.Ile963=) c.2520A= (p.Ile840=) n.2889A= | |
13 | g.32337244A>C | CA483437123 | BRCA2 | c.2889A>C (p.Ile963=) c.2520A>C (p.Ile840=) n.2889A>C | |
13 | g.32337244A>G | CA387774113 | BRCA2 | c.2889A>G (p.Ile963Met) c.2520A>G (p.Ile840Met) n.2889A>G | dbSNP |
13 | g.32337244A>T | CA483437125 | BRCA2 | c.2889A>T (p.Ile963=) c.2520A>T (p.Ile840=) n.2889A>T | ClinVar dbSNP |
13 | g.32337248del | CA645573220 | BRCA2 | c.2893del (p.Met965Ter) c.2524del (p.Met842Ter) n.2893del | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337245A>C | CA387774115 | BRCA2 | c.2890A>C (p.Lys964Gln) c.2521A>C (p.Lys841Gln) n.2890A>C | |
13 | g.32337245A>G | CA387774117 | BRCA2 | c.2890A>G (p.Lys964Glu) c.2521A>G (p.Lys841Glu) n.2890A>G | |
13 | g.32337245A>T | CA387774119 | BRCA2 | c.2890A>T (p.Lys964Ter) c.2521A>T (p.Lys841Ter) n.2890A>T | dbSNP |
13 | g.32337246A>C | CA387774123 | BRCA2 | c.2891A>C (p.Lys964Thr) c.2522A>C (p.Lys841Thr) n.2891A>C | |
13 | g.32337246A>G | CA387774124 | BRCA2 | c.2891A>G (p.Lys964Arg) c.2522A>G (p.Lys841Arg) n.2891A>G | gnomAD v4 |
13 | g.32337246A>T | CA387774122 | BRCA2 | c.2891A>T (p.Lys964Ile) c.2522A>T (p.Lys841Ile) n.2891A>T | dbSNP |
13 | g.32337247A= | CA2082812412 | BRCA2 | c.2892A= (p.Lys964=) c.2523A= (p.Lys841=) n.2892A= | |
13 | g.32337247A>C | CA387774126 | BRCA2 | c.2892A>C (p.Lys964Asn) c.2523A>C (p.Lys841Asn) n.2892A>C | ClinVar dbSNP |
13 | g.32337247A>G | CA483437132 | BRCA2 | c.2892A>G (p.Lys964=) c.2523A>G (p.Lys841=) n.2892A>G | ClinVar dbSNP |
13 | g.32337247A>T | CA016692 | BRCA2 | c.2892A>T (p.Lys964Asn) c.2523A>T (p.Lys841Asn) n.2892A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337247_32337248insC | CA2695218020 | BRCA2 | c.2892_2893insC (p.Met965HisfsTer17) c.2523_2524insC (p.Met842HisfsTer17) n.2892_2893insC | |
13 | g.32337248A= | CA2082812426 | BRCA2 | c.2893A= (p.Met965=) c.2524A= (p.Met842=) n.2893A= | |
13 | g.32337248A>C | CA387774129 | BRCA2 | c.2893A>C (p.Met965Leu) c.2524A>C (p.Met842Leu) n.2893A>C | dbSNP |
13 | g.32337248A>G | CA387774131 | BRCA2 | c.2893A>G (p.Met965Val) c.2524A>G (p.Met842Val) n.2893A>G | ClinVar dbSNP |
13 | g.32337248A>T | CA387774133 | BRCA2 | c.2893A>T (p.Met965Leu) c.2524A>T (p.Met842Leu) n.2893A>T | dbSNP |
13 | g.32337249T>A | CA387774139 | BRCA2 | c.2894T>A (p.Met965Lys) c.2525T>A (p.Met842Lys) n.2894T>A | dbSNP |
13 | g.32337249T>C | CA387774135 | BRCA2 | c.2894T>C (p.Met965Thr) c.2525T>C (p.Met842Thr) n.2894T>C | ClinVar dbSNP |
13 | g.32337249T>G | CA387774137 | BRCA2 | c.2894T>G (p.Met965Arg) c.2525T>G (p.Met842Arg) n.2894T>G | dbSNP |
13 | g.32337249T= | CA2082812432 | BRCA2 | c.2894T= (p.Met965=) c.2525T= (p.Met842=) n.2894T= | |
13 | g.32337250G>A | CA387774141 | BRCA2 | c.2895G>A (p.Met965Ile) c.2526G>A (p.Met842Ile) n.2895G>A | dbSNP |
13 | g.32337250G>C | CA387774143 | BRCA2 | c.2895G>C (p.Met965Ile) c.2526G>C (p.Met842Ile) n.2895G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337250G= | CA2082812446 | BRCA2 | c.2895G= (p.Met965=) c.2526G= (p.Met842=) n.2895G= | |
13 | g.32337250G>T | CA387774145 | BRCA2 | c.2895G>T (p.Met965Ile) c.2526G>T (p.Met842Ile) n.2895G>T | dbSNP gnomAD v4 |
13 | g.32337251A>C | CA387774148 | BRCA2 | c.2896A>C (p.Thr966Pro) c.2527A>C (p.Thr843Pro) n.2896A>C | |
13 | g.32337251A>G | CA387774151 | BRCA2 | c.2896A>G (p.Thr966Ala) c.2527A>G (p.Thr843Ala) n.2896A>G | ClinVar |
13 | g.32337251A>T | CA387774153 | BRCA2 | c.2896A>T (p.Thr966Ser) c.2527A>T (p.Thr843Ser) n.2896A>T | dbSNP |
13 | g.32337251dup | CA10589178 | BRCA2 | c.2896dup (p.Thr966AsnfsTer16) c.2527dup (p.Thr843AsnfsTer16) n.2896dup | ClinVar dbSNP |
13 | g.32337251_32337253delinsACT | CA2082812458 | BRCA2 | c.2896_2898delinsACT (p.Thr966=) c.2527_2529delinsACT (p.Thr843=) n.2896_2898delinsACT | |
13 | g.32337252C>A | CA387774160 | BRCA2 | c.2897C>A (p.Thr966Asn) c.2528C>A (p.Thr843Asn) n.2897C>A | dbSNP |
13 | g.32337252C>G | CA387774157 | BRCA2 | c.2897C>G (p.Thr966Ser) c.2528C>G (p.Thr843Ser) n.2897C>G | dbSNP |
13 | g.32337252C>T | CA387774155 | BRCA2 | c.2897C>T (p.Thr966Ile) c.2528C>T (p.Thr843Ile) n.2897C>T | dbSNP gnomAD v4 |
13 | g.32337254_32337255del | CA016707 | BRCA2 | c.2899_2900del (p.Leu967ArgfsTer14) c.2530_2531del (p.Leu844ArgfsTer14) n.2899_2900del | ClinVar dbSNP gnomAD v4 |
13 | g.32337253T>A | CA483437156 | BRCA2 | c.2898T>A (p.Thr966=) c.2529T>A (p.Thr843=) n.2898T>A | dbSNP |
13 | g.32337253T>C | CA016699 | BRCA2 | c.2898T>C (p.Thr966=) c.2529T>C (p.Thr843=) n.2898T>C | ClinVar dbSNP |
13 | g.32337253T>G | CA483437160 | BRCA2 | c.2898T>G (p.Thr966=) c.2529T>G (p.Thr843=) n.2898T>G | |
13 | g.32337253T= | CA2082812478 | BRCA2 | c.2898T= (p.Thr966=) c.2529T= (p.Thr843=) n.2898T= | |
13 | g.32337254C>A | CA387774162 | BRCA2 | c.2899C>A (p.Leu967Ile) c.2530C>A (p.Leu844Ile) n.2899C>A | dbSNP |
13 | g.32337254C= | CA2082812488 | BRCA2 | c.2899C= (p.Leu967=) c.2530C= (p.Leu844=) n.2899C= | |
13 | g.32337254C>G | CA016713 | BRCA2 | c.2899C>G (p.Leu967Val) c.2530C>G (p.Leu844Val) n.2899C>G | ClinVar dbSNP |
13 | g.32337254C>T | CA483437165 | BRCA2 | c.2899C>T (p.Leu967=) c.2530C>T (p.Leu844=) n.2899C>T | ClinVar dbSNP |
13 | g.32337255T>A | CA387774165 | BRCA2 | c.2900T>A (p.Leu967Gln) c.2531T>A (p.Leu844Gln) n.2900T>A | dbSNP |
13 | g.32337255T>C | CA016735 | BRCA2 | c.2900T>C (p.Leu967Pro) c.2531T>C (p.Leu844Pro) n.2900T>C | ClinVar dbSNP |
13 | g.32337255T>G | CA387774168 | BRCA2 | c.2900T>G (p.Leu967Arg) c.2531T>G (p.Leu844Arg) n.2900T>G | |
13 | g.32337255T= | CA2082812503 | BRCA2 | c.2900T= (p.Leu967=) c.2531T= (p.Leu844=) n.2900T= | |
13 | g.32337256A>C | CA483437167 | BRCA2 | c.2901A>C (p.Leu967=) c.2532A>C (p.Leu844=) n.2901A>C | |
13 | g.32337256A>G | CA483437168 | BRCA2 | c.2901A>G (p.Leu967=) c.2532A>G (p.Leu844=) n.2901A>G | dbSNP |
13 | g.32337256A>T | CA483437169 | BRCA2 | c.2901A>T (p.Leu967=) c.2532A>T (p.Leu844=) n.2901A>T | dbSNP |
13 | g.32337257G>A | CA387774172 | BRCA2 | c.2902G>A (p.Gly968Ser) c.2533G>A (p.Gly845Ser) n.2902G>A | ClinVar dbSNP |
13 | g.32337257G>C | CA387774170 | BRCA2 | c.2902G>C (p.Gly968Arg) c.2533G>C (p.Gly845Arg) n.2902G>C | dbSNP |
13 | g.32337257G= | CA2082812580 | BRCA2 | c.2902G= (p.Gly968=) c.2533G= (p.Gly845=) n.2902G= | |
13 | g.32337257G>T | CA387774171 | BRCA2 | c.2902G>T (p.Gly968Cys) c.2533G>T (p.Gly845Cys) n.2902G>T | dbSNP |
13 | g.32337257_32337266del | CA2582341843 | BRCA2 | c.2902_2911del (p.Gly968Ter) c.2533_2542del (p.Gly845Ter) n.2902_2911del | ClinVar |
13 | g.32337258G>A | CA387774173 | BRCA2 | c.2903G>A (p.Gly968Asp) c.2534G>A (p.Gly845Asp) n.2903G>A | dbSNP |
13 | g.32337258G>C | CA387774174 | BRCA2 | c.2903G>C (p.Gly968Ala) c.2534G>C (p.Gly845Ala) n.2903G>C | dbSNP |
13 | g.32337258G>T | CA387774175 | BRCA2 | c.2903G>T (p.Gly968Val) c.2534G>T (p.Gly845Val) n.2903G>T | dbSNP |
13 | g.32337259T>A | CA483437177 | BRCA2 | c.2904T>A (p.Gly968=) c.2535T>A (p.Gly845=) n.2904T>A | dbSNP |
13 | g.32337259T>C | CA483437180 | BRCA2 | c.2904T>C (p.Gly968=) c.2535T>C (p.Gly845=) n.2904T>C | ClinVar dbSNP |
13 | g.32337259T>G | CA483437181 | BRCA2 | c.2904T>G (p.Gly968=) c.2535T>G (p.Gly845=) n.2904T>G | dbSNP |
13 | g.32337260C>A | CA387774176 | BRCA2 | c.2905C>A (p.Gln969Lys) c.2536C>A (p.Gln846Lys) n.2905C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337260C= | CA2082812603 | BRCA2 | c.2905C= (p.Gln969=) c.2536C= (p.Gln846=) n.2905C= | |
13 | g.32337260C>G | CA387774177 | BRCA2 | c.2905C>G (p.Gln969Glu) c.2536C>G (p.Gln846Glu) n.2905C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337260C>T | CA10586506 | BRCA2 | c.2905C>T (p.Gln969Ter) c.2536C>T (p.Gln846Ter) n.2905C>T | ClinVar dbSNP |
13 | g.32337261A= | CA2082812611 | BRCA2 | c.2906A= (p.Gln969=) c.2537A= (p.Gln846=) n.2906A= | |
13 | g.32337261A>C | CA387774178 | BRCA2 | c.2906A>C (p.Gln969Pro) c.2537A>C (p.Gln846Pro) n.2906A>C | |
13 | g.32337261A>G | CA387774180 | BRCA2 | c.2906A>G (p.Gln969Arg) c.2537A>G (p.Gln846Arg) n.2906A>G | ClinVar dbSNP |
13 | g.32337261A>T | CA387774179 | BRCA2 | c.2906A>T (p.Gln969Leu) c.2537A>T (p.Gln846Leu) n.2906A>T | dbSNP |
13 | g.32337262A= | CA2082812619 | BRCA2 | c.2907A= (p.Gln969=) c.2538A= (p.Gln846=) n.2907A= | |
13 | g.32337262A>C | CA387774181 | BRCA2 | c.2907A>C (p.Gln969His) c.2538A>C (p.Gln846His) n.2907A>C | ClinVar |
13 | g.32337262A>G | CA483437187 | BRCA2 | c.2907A>G (p.Gln969=) c.2538A>G (p.Gln846=) n.2907A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337262A>T | CA387774182 | BRCA2 | c.2907A>T (p.Gln969His) c.2538A>T (p.Gln846His) n.2907A>T | dbSNP |
13 | g.32337263G>A | CA016740 | BRCA2 | c.2908G>A (p.Asp970Asn) c.2539G>A (p.Asp847Asn) n.2908G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337263G>C | CA387774183 | BRCA2 | c.2908G>C (p.Asp970His) c.2539G>C (p.Asp847His) n.2908G>C | ClinVar dbSNP |
13 | g.32337263G= | CA2082812641 | BRCA2 | c.2908G= (p.Asp970=) c.2539G= (p.Asp847=) n.2908G= | |
13 | g.32337263G>T | CA387774184 | BRCA2 | c.2908G>T (p.Asp970Tyr) c.2539G>T (p.Asp847Tyr) n.2908G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337264A= | CA2082812660 | BRCA2 | c.2909A= (p.Asp970=) c.2540A= (p.Asp847=) n.2909A= | |
13 | g.32337264A>C | CA387774185 | BRCA2 | c.2909A>C (p.Asp970Ala) c.2540A>C (p.Asp847Ala) n.2909A>C | |
13 | g.32337264A>G | CA387774186 | BRCA2 | c.2909A>G (p.Asp970Gly) c.2540A>G (p.Asp847Gly) n.2909A>G | ClinVar dbSNP |
13 | g.32337264A>T | CA387774187 | BRCA2 | c.2909A>T (p.Asp970Val) c.2540A>T (p.Asp847Val) n.2909A>T | dbSNP |
13 | g.32337265T>A | CA387774188 | BRCA2 | c.2910T>A (p.Asp970Glu) c.2541T>A (p.Asp847Glu) n.2910T>A | dbSNP |
13 | g.32337265T>C | CA483437194 | BRCA2 | c.2910T>C (p.Asp970=) c.2541T>C (p.Asp847=) n.2910T>C | dbSNP |
13 | g.32337265T>G | CA387774189 | BRCA2 | c.2910T>G (p.Asp970Glu) c.2541T>G (p.Asp847Glu) n.2910T>G | dbSNP |
13 | g.32337266T>A | CA387774190 | BRCA2 | c.2911T>A (p.Leu971Ile) c.2542T>A (p.Leu848Ile) n.2911T>A | ClinVar dbSNP |
13 | g.32337266T>C | CA483437196 | BRCA2 | c.2911T>C (p.Leu971=) c.2542T>C (p.Leu848=) n.2911T>C | dbSNP |
13 | g.32337266T>G | CA387774191 | BRCA2 | c.2911T>G (p.Leu971Val) c.2542T>G (p.Leu848Val) n.2911T>G | ClinVar |
13 | g.32337266T= | CA2082812668 | BRCA2 | c.2911T= (p.Leu971=) c.2542T= (p.Leu848=) n.2911T= | |
13 | g.32337267T>A | CA387774192 | BRCA2 | c.2912T>A (p.Leu971Ter) c.2543T>A (p.Leu848Ter) n.2912T>A | |
13 | g.32337267T>C | CA387774193 | BRCA2 | c.2912T>C (p.Leu971Ser) c.2543T>C (p.Leu848Ser) n.2912T>C | |
13 | g.32337267T>G | CA016757 | BRCA2 | c.2912T>G (p.Leu971Ter) c.2543T>G (p.Leu848Ter) n.2912T>G | ClinVar dbSNP |
13 | g.32337267T= | CA2082812674 | BRCA2 | c.2912T= (p.Leu971=) c.2543T= (p.Leu848=) n.2912T= | |
13 | g.32337268A= | CA2082812679 | BRCA2 | c.2913A= (p.Leu971=) c.2544A= (p.Leu848=) n.2913A= | |
13 | g.32337268A>C | CA387774194 | BRCA2 | c.2913A>C (p.Leu971Phe) c.2544A>C (p.Leu848Phe) n.2913A>C | |
13 | g.32337268A>G | CA483437197 | BRCA2 | c.2913A>G (p.Leu971=) c.2544A>G (p.Leu848=) n.2913A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337268A>T | CA387774195 | BRCA2 | c.2913A>T (p.Leu971Phe) c.2544A>T (p.Leu848Phe) n.2913A>T | dbSNP |
13 | g.32337269A>C | CA387774196 | BRCA2 | c.2914A>C (p.Lys972Gln) c.2545A>C (p.Lys849Gln) n.2914A>C | |
13 | g.32337269A>G | CA387774197 | BRCA2 | c.2914A>G (p.Lys972Glu) c.2545A>G (p.Lys849Glu) n.2914A>G | dbSNP |
13 | g.32337269A>T | CA387774198 | BRCA2 | c.2914A>T (p.Lys972Ter) c.2545A>T (p.Lys849Ter) n.2914A>T | dbSNP |
13 | g.32337270A= | CA2082812686 | BRCA2 | c.2915A= (p.Lys972=) c.2546A= (p.Lys849=) n.2915A= | |
13 | g.32337270A>C | CA387774199 | BRCA2 | c.2915A>C (p.Lys972Thr) c.2546A>C (p.Lys849Thr) n.2915A>C | |
13 | g.32337270A>G | CA16619678 | BRCA2 | c.2915A>G (p.Lys972Arg) c.2546A>G (p.Lys849Arg) n.2915A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337270A>T | CA387774200 | BRCA2 | c.2915A>T (p.Lys972Ile) c.2546A>T (p.Lys849Ile) n.2915A>T | dbSNP |
13 | g.32337271A= | CA2082812693 | BRCA2 | c.2916A= (p.Lys972=) c.2547A= (p.Lys849=) n.2916A= | |
13 | g.32337271A>C | CA387774201 | BRCA2 | c.2916A>C (p.Lys972Asn) c.2547A>C (p.Lys849Asn) n.2916A>C | ClinVar dbSNP |
13 | g.32337271A>G | CA483437199 | BRCA2 | c.2916A>G (p.Lys972=) c.2547A>G (p.Lys849=) n.2916A>G | |
13 | g.32337271A>T | CA387774202 | BRCA2 | c.2916A>T (p.Lys972Asn) c.2547A>T (p.Lys849Asn) n.2916A>T | |
13 | g.32337272T>A | CA387774203 | BRCA2 | c.2917T>A (p.Ser973Thr) c.2548T>A (p.Ser850Thr) n.2917T>A | dbSNP |
13 | g.32337272T>C | CA387774204 | BRCA2 | c.2917T>C (p.Ser973Pro) c.2548T>C (p.Ser850Pro) n.2917T>C | dbSNP |
13 | g.32337272T>G | CA387774205 | BRCA2 | c.2917T>G (p.Ser973Ala) c.2548T>G (p.Ser850Ala) n.2917T>G | dbSNP |
13 | g.32337273C>A | CA016767 | BRCA2 | c.2918C>A (p.Ser973Ter) c.2549C>A (p.Ser850Ter) n.2918C>A | ClinVar dbSNP |
13 | g.32337273C= | CA2082812708 | BRCA2 | c.2918C= (p.Ser973=) c.2549C= (p.Ser850=) n.2918C= | |
13 | g.32337273C>G | CA387774206 | BRCA2 | c.2918C>G (p.Ser973Trp) c.2549C>G (p.Ser850Trp) n.2918C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337273C>T | CA016775 | BRCA2 | c.2918C>T (p.Ser973Leu) c.2549C>T (p.Ser850Leu) n.2918C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337273_32337274delinsCG | CA2082812711 | BRCA2 | c.2918_2919delinsCG (p.Ser973=) c.2549_2550delinsCG (p.Ser850=) n.2918_2919delinsCG | |
13 | g.32337274G>A | CA016784 | BRCA2 | c.2919G>A (p.Ser973=) c.2550G>A (p.Ser850=) n.2919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337274G>C | CA483437203 | BRCA2 | c.2919G>C (p.Ser973=) c.2550G>C (p.Ser850=) n.2919G>C | dbSNP |
13 | g.32337274G= | CA2082812731 | BRCA2 | c.2919G= (p.Ser973=) c.2550G= (p.Ser850=) n.2919G= | |
13 | g.32337274G>T | CA483437202 | BRCA2 | c.2919G>T (p.Ser973=) c.2550G>T (p.Ser850=) n.2919G>T | ClinVar dbSNP |
13 | g.32337275del | CA919242626 | BRCA2 | c.2920del (p.Asp974ThrfsTer4) c.2551del (p.Asp851ThrfsTer4) n.2920del | dbSNP |
13 | g.32337275G>A | CA016790 | BRCA2 | c.2920G>A (p.Asp974Asn) c.2551G>A (p.Asp851Asn) n.2920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337275G>C | CA387774207 | BRCA2 | c.2920G>C (p.Asp974His) c.2551G>C (p.Asp851His) n.2920G>C | ClinVar dbSNP |
13 | g.32337275G= | CA2082812750 | BRCA2 | c.2920G= (p.Asp974=) c.2551G= (p.Asp851=) n.2920G= | |
13 | g.32337275G>T | CA6940640 | BRCA2 | c.2920G>T (p.Asp974Tyr) c.2551G>T (p.Asp851Tyr) n.2920G>T | dbSNP ExAC gnomAD v2 |
13 | g.32337275_32337277dup | CA2622601029 | BRCA2 | c.2920_2922dup (p.Asp974_Ile975insAsp) c.2551_2553dup (p.Asp851_Ile852insAsp) n.2920_2922dup | gnomAD v4 |
13 | g.32337276A>C | CA387774208 | BRCA2 | c.2921A>C (p.Asp974Ala) c.2552A>C (p.Asp851Ala) n.2921A>C | dbSNP |
13 | g.32337276A>G | CA387774209 | BRCA2 | c.2921A>G (p.Asp974Gly) c.2552A>G (p.Asp851Gly) n.2921A>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337276A>T | CA387774210 | BRCA2 | c.2921A>T (p.Asp974Val) c.2552A>T (p.Asp851Val) n.2921A>T | dbSNP |
13 | g.32337277C>A | CA387774211 | BRCA2 | c.2922C>A (p.Asp974Glu) c.2553C>A (p.Asp851Glu) n.2922C>A | ClinVar dbSNP |
13 | g.32337277C= | CA2082812768 | BRCA2 | c.2922C= (p.Asp974=) c.2553C= (p.Asp851=) n.2922C= | |
13 | g.32337277C>G | CA247503315 | BRCA2 | c.2922C>G (p.Asp974Glu) c.2553C>G (p.Asp851Glu) n.2922C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337277C>T | CA483437208 | BRCA2 | c.2922C>T (p.Asp974=) c.2553C>T (p.Asp851=) n.2922C>T | dbSNP |
13 | g.32337278A= | CA2082812794 | BRCA2 | c.2923A= (p.Ile975=) c.2554A= (p.Ile852=) n.2923A= | |
13 | g.32337278A>C | CA387774212 | BRCA2 | c.2923A>C (p.Ile975Leu) c.2554A>C (p.Ile852Leu) n.2923A>C | |
13 | g.32337278A>G | CA387774213 | BRCA2 | c.2923A>G (p.Ile975Val) c.2554A>G (p.Ile852Val) n.2923A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337278A>T | CA6940641 | BRCA2 | c.2923A>T (p.Ile975Phe) c.2554A>T (p.Ile852Phe) n.2923A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337278_32337279delinsGA | CA2740097653 | BRCA2 | c.2923_2924delinsGA (p.Ile975Asp) c.2554_2555delinsGA (p.Ile852Asp) n.2923_2924delinsGA | ClinVar |
13 | g.32337278_32337280delinsATC | CA2082812788 | BRCA2 | c.2923_2925delinsATC (p.Ile975=) c.2554_2556delinsATC (p.Ile852=) n.2923_2925delinsATC | |
13 | g.32337278_32337282delinsATCTC | CA2082812791 | BRCA2 | c.2923_2927delinsATCTC (p.Ile975=) c.2554_2558delinsATCTC (p.Ile852=) n.2923_2927delinsATCTC | |
13 | g.32337278_32337282delinsGACAT | CA891844448 | BRCA2 | c.2923_2927delinsGACAT (p.Ile975_Ser976delinsAspIle) c.2554_2558delinsGACAT (p.Ile852_Ser853delinsAspIle) n.2923_2927delinsGACAT | ClinVar dbSNP |
13 | g.32337279T>A | CA16613864 | BRCA2 | c.2924T>A (p.Ile975Asn) c.2555T>A (p.Ile852Asn) n.2924T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337279T>C | CA10577466 | BRCA2 | c.2924T>C (p.Ile975Thr) c.2555T>C (p.Ile852Thr) n.2924T>C | ClinVar dbSNP |
13 | g.32337279T>G | CA016800 | BRCA2 | c.2924T>G (p.Ile975Ser) c.2555T>G (p.Ile852Ser) n.2924T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337279T= | CA2082812816 | BRCA2 | c.2924T= (p.Ile975=) c.2555T= (p.Ile852=) n.2924T= | |
13 | g.32337279_32337282delinsTCTC | CA2082812821 | BRCA2 | c.2924_2927delinsTCTC (p.Ile975=) c.2555_2558delinsTCTC (p.Ile852=) n.2924_2927delinsTCTC | |
13 | g.32337281_32337282del | CA915948444 | BRCA2 | c.2926_2927del (p.Ser976LeufsTer5) c.2557_2558del (p.Ser853LeufsTer5) n.2926_2927del | ClinVar dbSNP |
13 | g.32337280C>A | CA483437213 | BRCA2 | c.2925C>A (p.Ile975=) c.2556C>A (p.Ile852=) n.2925C>A | ClinVar dbSNP |
13 | g.32337280C= | CA2082812839 | BRCA2 | c.2925C= (p.Ile975=) c.2556C= (p.Ile852=) n.2925C= | |
13 | g.32337280C>G | CA387774214 | BRCA2 | c.2925C>G (p.Ile975Met) c.2556C>G (p.Ile852Met) n.2925C>G | ClinVar dbSNP |
13 | g.32337280C>T | CA483437214 | BRCA2 | c.2925C>T (p.Ile975=) c.2556C>T (p.Ile852=) n.2925C>T | dbSNP gnomAD v4 |
13 | g.32337280_32337281delinsCT | CA2082812835 | BRCA2 | c.2925_2926delinsCT (p.Ile975=) c.2556_2557delinsCT (p.Ile852=) n.2925_2926delinsCT | |
13 | g.32337282_32337284del | CA016811 | BRCA2 | c.2927_2929del (p.Ser976del) c.2558_2560del (p.Ser853del) n.2927_2929del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337281del | CA609453774 | BRCA2 | c.2926del (p.Ser976ProfsTer2) c.2557del (p.Ser853ProfsTer2) n.2926del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337281T>A | CA6940642 | BRCA2 | c.2926T>A (p.Ser976Thr) c.2557T>A (p.Ser853Thr) n.2926T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337281T>C | CA387774218 | BRCA2 | c.2926T>C (p.Ser976Pro) c.2557T>C (p.Ser853Pro) n.2926T>C | dbSNP |
13 | g.32337281T>G | CA387774221 | BRCA2 | c.2926T>G (p.Ser976Ala) c.2557T>G (p.Ser853Ala) n.2926T>G | |
13 | g.32337281T= | CA2082812853 | BRCA2 | c.2926T= (p.Ser976=) c.2557T= (p.Ser853=) n.2926T= | |
13 | g.32337281_32337282delinsAT | CA016802 | BRCA2 | c.2926_2927delinsAT (p.Ser976Ile) c.2557_2558delinsAT (p.Ser853Ile) n.2926_2927delinsAT | ClinVar dbSNP |
13 | g.32337281_32337282delinsTC | CA2082812852 | BRCA2 | c.2926_2927delinsTC (p.Ser976=) c.2557_2558delinsTC (p.Ser853=) n.2926_2927delinsTC | |
13 | g.32337282C>A | CA387774224 | BRCA2 | c.2927C>A (p.Ser976Tyr) c.2558C>A (p.Ser853Tyr) n.2927C>A | dbSNP |
13 | g.32337282C= | CA2082812861 | BRCA2 | c.2927C= (p.Ser976=) c.2558C= (p.Ser853=) n.2927C= | |
13 | g.32337282C>G | CA387774226 | BRCA2 | c.2927C>G (p.Ser976Cys) c.2558C>G (p.Ser853Cys) n.2927C>G | dbSNP |
13 | g.32337282C>T | CA6940643 | BRCA2 | c.2927C>T (p.Ser976Phe) c.2558C>T (p.Ser853Phe) n.2927C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337282_32337283delinsTT | CA645573221 | BRCA2 | c.2927_2928delinsTT (p.Ser976Phe) c.2558_2559delinsTT (p.Ser853Phe) n.2927_2928delinsTT | COSMIC COSMIC |
13 | g.32337283del | CA2499222121 | BRCA2 | c.2928del (p.Leu977Ter) c.2559del (p.Leu854Ter) n.2928del | |
13 | g.32337283C>A | CA483437218 | BRCA2 | c.2928C>A (p.Ser976=) c.2559C>A (p.Ser853=) n.2928C>A | dbSNP |
13 | g.32337283C= | CA2082812866 | BRCA2 | c.2928C= (p.Ser976=) c.2559C= (p.Ser853=) n.2928C= | |
13 | g.32337283C>G | CA483437219 | BRCA2 | c.2928C>G (p.Ser976=) c.2559C>G (p.Ser853=) n.2928C>G | |
13 | g.32337283C>T | CA483437217 | BRCA2 | c.2928C>T (p.Ser976=) c.2559C>T (p.Ser853=) n.2928C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337283_32337294delinsCTTGAATATAGA | CA2082812865 | BRCA2 | c.2928_2939delinsCTTGAATATAGA (p.Ser976=) c.2559_2570delinsCTTGAATATAGA (p.Ser853=) n.2928_2939delinsCTTGAATATAGA | |
13 | g.32337283_32337296delinsG | CA2580087307 | BRCA2 | c.2928_2941delinsG (p.Leu977LysfsTer10) c.2559_2572delinsG (p.Leu854LysfsTer10) n.2928_2941delinsG | ClinVar |
13 | g.32337284T>A | CA387774233 | BRCA2 | c.2929T>A (p.Leu977Met) c.2560T>A (p.Leu854Met) n.2929T>A | dbSNP |
13 | g.32337284T>C | CA10579555 | BRCA2 | c.2929T>C (p.Leu977=) c.2560T>C (p.Leu854=) n.2929T>C | ClinVar dbSNP |
13 | g.32337284T>G | CA387774236 | BRCA2 | c.2929T>G (p.Leu977Val) c.2560T>G (p.Leu854Val) n.2929T>G | |
13 | g.32337284T= | CA2082812880 | BRCA2 | c.2929T= (p.Leu977=) c.2560T= (p.Leu854=) n.2929T= | |
13 | g.32337285_32337295del | CA016825 | BRCA2 | c.2930_2940del (p.Leu977Ter) c.2561_2571del (p.Leu854Ter) n.2930_2940del | ClinVar dbSNP |
13 | g.32337285T>A | CA387774239 | BRCA2 | c.2930T>A (p.Leu977Ter) c.2561T>A (p.Leu854Ter) n.2930T>A | dbSNP |
13 | g.32337285T>C | CA387774240 | BRCA2 | c.2930T>C (p.Leu977Ser) c.2561T>C (p.Leu854Ser) n.2930T>C | dbSNP |
13 | g.32337285T>G | CA387774241 | BRCA2 | c.2930T>G (p.Leu977Trp) c.2561T>G (p.Leu854Trp) n.2930T>G | |
13 | g.32337286G>A | CA483437224 | BRCA2 | c.2931G>A (p.Leu977=) c.2562G>A (p.Leu854=) n.2931G>A | dbSNP gnomAD v4 |
13 | g.32337286G>C | CA6940644 | BRCA2 | c.2931G>C (p.Leu977Phe) c.2562G>C (p.Leu854Phe) n.2931G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337286G= | CA2082812900 | BRCA2 | c.2931G= (p.Leu977=) c.2562G= (p.Leu854=) n.2931G= | |
13 | g.32337286G>T | CA387774244 | BRCA2 | c.2931G>T (p.Leu977Phe) c.2562G>T (p.Leu854Phe) n.2931G>T | dbSNP |
13 | g.32337286_32337287delinsT | CA2695199256 | BRCA2 | c.2931_2932delinsT (p.Leu977PhefsTer3) c.2562_2563delinsT (p.Leu854PhefsTer3) n.2931_2932delinsT | ClinVar |
13 | g.32337287A>C | CA387774247 | BRCA2 | c.2932A>C (p.Asn978His) c.2563A>C (p.Asn855His) n.2932A>C | |
13 | g.32337287A>G | CA387774251 | BRCA2 | c.2932A>G (p.Asn978Asp) c.2563A>G (p.Asn855Asp) n.2932A>G | dbSNP |
13 | g.32337287A>T | CA387774253 | BRCA2 | c.2932A>T (p.Asn978Tyr) c.2563A>T (p.Asn855Tyr) n.2932A>T | dbSNP |
13 | g.32337288A= | CA2082812907 | BRCA2 | c.2933A= (p.Asn978=) c.2564A= (p.Asn855=) n.2933A= | |
13 | g.32337288A>C | CA387774255 | BRCA2 | c.2933A>C (p.Asn978Thr) c.2564A>C (p.Asn855Thr) n.2933A>C | ClinVar dbSNP |
13 | g.32337288A>G | CA6940645 | BRCA2 | c.2933A>G (p.Asn978Ser) c.2564A>G (p.Asn855Ser) n.2933A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337288A>T | CA387774258 | BRCA2 | c.2933A>T (p.Asn978Ile) c.2564A>T (p.Asn855Ile) n.2933A>T | dbSNP |
13 | g.32337289T>A | CA387774260 | BRCA2 | c.2934T>A (p.Asn978Lys) c.2565T>A (p.Asn855Lys) n.2934T>A | dbSNP |
13 | g.32337289T>C | CA16606668 | BRCA2 | c.2934T>C (p.Asn978=) c.2565T>C (p.Asn855=) n.2934T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337289T>G | CA387774263 | BRCA2 | c.2934T>G (p.Asn978Lys) c.2565T>G (p.Asn855Lys) n.2934T>G | dbSNP |
13 | g.32337289T= | CA2082812916 | BRCA2 | c.2934T= (p.Asn978=) c.2565T= (p.Asn855=) n.2934T= | |
13 | g.32337290A= | CA2082812923 | BRCA2 | c.2935A= (p.Ile979=) c.2566A= (p.Ile856=) n.2935A= | |
13 | g.32337290A>C | CA387774267 | BRCA2 | c.2935A>C (p.Ile979Leu) c.2566A>C (p.Ile856Leu) n.2935A>C | |
13 | g.32337290A>G | CA387774269 | BRCA2 | c.2935A>G (p.Ile979Val) c.2566A>G (p.Ile856Val) n.2935A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337290A>T | CA387774275 | BRCA2 | c.2935A>T (p.Ile979Leu) c.2566A>T (p.Ile856Leu) n.2935A>T | dbSNP |
13 | g.32337291T>A | CA387774278 | BRCA2 | c.2936T>A (p.Ile979Lys) c.2567T>A (p.Ile856Lys) n.2936T>A | |
13 | g.32337291T>C | CA10579556 | BRCA2 | c.2936T>C (p.Ile979Thr) c.2567T>C (p.Ile856Thr) n.2936T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337291T>G | CA387774276 | BRCA2 | c.2936T>G (p.Ile979Arg) c.2567T>G (p.Ile856Arg) n.2936T>G | |
13 | g.32337291T= | CA2082812932 | BRCA2 | c.2936T= (p.Ile979=) c.2567T= (p.Ile856=) n.2936T= | |
13 | g.32337292del | CA2499222122 | BRCA2 | c.2937del (p.Ile979MetfsTer12) c.2568del (p.Ile856MetfsTer12) n.2937del | |
13 | g.32337292A= | CA2082812944 | BRCA2 | c.2937A= (p.Ile979=) c.2568A= (p.Ile856=) n.2937A= | |
13 | g.32337292A>C | CA483437229 | BRCA2 | c.2937A>C (p.Ile979=) c.2568A>C (p.Ile856=) n.2937A>C | ClinVar |
13 | g.32337292A>G | CA016830 | BRCA2 | c.2937A>G (p.Ile979Met) c.2568A>G (p.Ile856Met) n.2937A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337292A>T | CA483437230 | BRCA2 | c.2937A>T (p.Ile979=) c.2568A>T (p.Ile856=) n.2937A>T | dbSNP COSMIC COSMIC |
13 | g.32337293G>A | CA387774283 | BRCA2 | c.2938G>A (p.Asp980Asn) c.2569G>A (p.Asp857Asn) n.2938G>A | dbSNP |
13 | g.32337293G>C | CA387774286 | BRCA2 | c.2938G>C (p.Asp980His) c.2569G>C (p.Asp857His) n.2938G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337293G= | CA2082812958 | BRCA2 | c.2938G= (p.Asp980=) c.2569G= (p.Asp857=) n.2938G= | |
13 | g.32337293G>T | CA016836 | BRCA2 | c.2938G>T (p.Asp980Tyr) c.2569G>T (p.Asp857Tyr) n.2938G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337294A= | CA2082812965 | BRCA2 | c.2939A= (p.Asp980=) c.2570A= (p.Asp857=) n.2939A= | |
13 | g.32337294A>C | CA387774291 | BRCA2 | c.2939A>C (p.Asp980Ala) c.2570A>C (p.Asp857Ala) n.2939A>C | |
13 | g.32337294A>G | CA387774296 | BRCA2 | c.2939A>G (p.Asp980Gly) c.2570A>G (p.Asp857Gly) n.2939A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337294A>T | CA387774299 | BRCA2 | c.2939A>T (p.Asp980Val) c.2570A>T (p.Asp857Val) n.2939A>T | dbSNP |
13 | g.32337295T>A | CA387774302 | BRCA2 | c.2940T>A (p.Asp980Glu) c.2571T>A (p.Asp857Glu) n.2940T>A | dbSNP gnomAD v4 |
13 | g.32337295T>C | CA483437232 | BRCA2 | c.2940T>C (p.Asp980=) c.2571T>C (p.Asp857=) n.2940T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337295T>G | CA387774310 | BRCA2 | c.2940T>G (p.Asp980Glu) c.2571T>G (p.Asp857Glu) n.2940T>G | |
13 | g.32337295T= | CA2082812972 | BRCA2 | c.2940T= (p.Asp980=) c.2571T= (p.Asp857=) n.2940T= | |
13 | g.32337296A= | CA2082812990 | BRCA2 | c.2941A= (p.Lys981=) c.2572A= (p.Lys858=) n.2941A= | |
13 | g.32337296A>C | CA387774312 | BRCA2 | c.2941A>C (p.Lys981Gln) c.2572A>C (p.Lys858Gln) n.2941A>C | dbSNP |
13 | g.32337296A>G | CA387774314 | BRCA2 | c.2941A>G (p.Lys981Glu) c.2572A>G (p.Lys858Glu) n.2941A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337296A>T | CA387774317 | BRCA2 | c.2941A>T (p.Lys981Ter) c.2572A>T (p.Lys858Ter) n.2941A>T | |
13 | g.32337299dup | CA913188641 | BRCA2 | c.2944dup (p.Ile982AsnfsTer6) c.2575dup (p.Ile859AsnfsTer6) n.2944dup | ClinVar dbSNP |
13 | g.32337299del | CA658761183 | BRCA2 | c.2944del (p.Ile982TyrfsTer9) c.2575del (p.Ile859TyrfsTer9) n.2944del | dbSNP |
13 | g.32337297A= | CA2082813000 | BRCA2 | c.2942A= (p.Lys981=) c.2573A= (p.Lys858=) n.2942A= | |
13 | g.32337297A>C | CA387774324 | BRCA2 | c.2942A>C (p.Lys981Thr) c.2573A>C (p.Lys858Thr) n.2942A>C | ClinVar dbSNP |
13 | g.32337297A>G | CA016842 | BRCA2 | c.2942A>G (p.Lys981Arg) c.2573A>G (p.Lys858Arg) n.2942A>G | ClinVar dbSNP |
13 | g.32337297A>T | CA387774321 | BRCA2 | c.2942A>T (p.Lys981Ile) c.2573A>T (p.Lys858Ile) n.2942A>T | dbSNP |
13 | g.32337298A= | CA2082813008 | BRCA2 | c.2943A= (p.Lys981=) c.2574A= (p.Lys858=) n.2943A= | |
13 | g.32337298A>C | CA387774327 | BRCA2 | c.2943A>C (p.Lys981Asn) c.2574A>C (p.Lys858Asn) n.2943A>C | COSMIC COSMIC |
13 | g.32337298A>G | CA483437240 | BRCA2 | c.2943A>G (p.Lys981=) c.2574A>G (p.Lys858=) n.2943A>G | ClinVar dbSNP |
13 | g.32337298A>T | CA387774329 | BRCA2 | c.2943A>T (p.Lys981Asn) c.2574A>T (p.Lys858Asn) n.2943A>T | |
13 | g.32337299A= | CA2082813014 | BRCA2 | c.2944A= (p.Ile982=) c.2575A= (p.Ile859=) n.2944A= | |
13 | g.32337299A>C | CA016848 | BRCA2 | c.2944A>C (p.Ile982Leu) c.2575A>C (p.Ile859Leu) n.2944A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337299A>G | CA387774332 | BRCA2 | c.2944A>G (p.Ile982Val) c.2575A>G (p.Ile859Val) n.2944A>G | |
13 | g.32337299A>T | CA387774333 | BRCA2 | c.2944A>T (p.Ile982Leu) c.2575A>T (p.Ile859Leu) n.2944A>T | |
13 | g.32337299_32337300delinsAT | CA2082813013 | BRCA2 | c.2944_2945delinsAT (p.Ile982=) c.2575_2576delinsAT (p.Ile859=) n.2944_2945delinsAT | |
13 | g.32337299_32337300insCCATGGTAGAGT | CA2082813023 | BRCA2 | c.2944_2945insCCATGGTAGAGT (p.Ile982delinsThrMetValGluLeu) c.2575_2576insCCATGGTAGAGT (p.Ile859delinsThrMetValGluLeu) n.2944_2945insCCATGGTAGAGT | dbSNP |
13 | g.32337300del | CA10589179 | BRCA2 | c.2945del (p.Ile982AsnfsTer9) c.2576del (p.Ile859AsnfsTer9) n.2945del | ClinVar dbSNP |
13 | g.32337300T>A | CA387774334 | BRCA2 | c.2945T>A (p.Ile982Lys) c.2576T>A (p.Ile859Lys) n.2945T>A | dbSNP |
13 | g.32337300T>C | CA387774335 | BRCA2 | c.2945T>C (p.Ile982Thr) c.2576T>C (p.Ile859Thr) n.2945T>C | dbSNP gnomAD v4 |
13 | g.32337300T>G | CA387774336 | BRCA2 | c.2945T>G (p.Ile982Arg) c.2576T>G (p.Ile859Arg) n.2945T>G | |
13 | g.32337301A= | CA2082813030 | BRCA2 | c.2946A= (p.Ile982=) c.2577A= (p.Ile859=) n.2946A= | |
13 | g.32337301A>C | CA16606420 | BRCA2 | c.2946A>C (p.Ile982=) c.2577A>C (p.Ile859=) n.2946A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337301A>G | CA016856 | BRCA2 | c.2946A>G (p.Ile982Met) c.2577A>G (p.Ile859Met) n.2946A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337301A>T | CA483437243 | BRCA2 | c.2946A>T (p.Ile982=) c.2577A>T (p.Ile859=) n.2946A>T | ClinVar |
13 | g.32337302C>A | CA016868 | BRCA2 | c.2947C>A (p.Pro983Thr) c.2578C>A (p.Pro860Thr) n.2947C>A | ClinVar dbSNP |
13 | g.32337302C= | CA2082813045 | BRCA2 | c.2947C= (p.Pro983=) c.2578C= (p.Pro860=) n.2947C= | |
13 | g.32337302C>G | CA387774342 | BRCA2 | c.2947C>G (p.Pro983Ala) c.2578C>G (p.Pro860Ala) n.2947C>G | dbSNP |
13 | g.32337302C>T | CA387774344 | BRCA2 | c.2947C>T (p.Pro983Ser) c.2578C>T (p.Pro860Ser) n.2947C>T | dbSNP gnomAD v4 |
13 | g.32337303C>A | CA387774352 | BRCA2 | c.2948C>A (p.Pro983Gln) c.2579C>A (p.Pro860Gln) n.2948C>A | dbSNP |
13 | g.32337303C>G | CA387774349 | BRCA2 | c.2948C>G (p.Pro983Arg) c.2579C>G (p.Pro860Arg) n.2948C>G | dbSNP |
13 | g.32337303C>T | CA387774346 | BRCA2 | c.2948C>T (p.Pro983Leu) c.2579C>T (p.Pro860Leu) n.2948C>T | ClinVar dbSNP |
13 | g.32337304A= | CA2082813051 | BRCA2 | c.2949A= (p.Pro983=) c.2580A= (p.Pro860=) n.2949A= | |
13 | g.32337304A>C | CA483437250 | BRCA2 | c.2949A>C (p.Pro983=) c.2580A>C (p.Pro860=) n.2949A>C | |
13 | g.32337304A>G | CA6940646 | BRCA2 | c.2949A>G (p.Pro983=) c.2580A>G (p.Pro860=) n.2949A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337304A>T | CA483437248 | BRCA2 | c.2949A>T (p.Pro983=) c.2580A>T (p.Pro860=) n.2949A>T | |
13 | g.32337305del | CA2580087311 | BRCA2 | c.2950del (p.Glu984LysfsTer7) c.2581del (p.Glu861LysfsTer7) n.2950del | ClinVar dbSNP |
13 | g.32337305G>A | CA387774357 | BRCA2 | c.2950G>A (p.Glu984Lys) c.2581G>A (p.Glu861Lys) n.2950G>A | |
13 | g.32337305G>C | CA387774360 | BRCA2 | c.2950G>C (p.Glu984Gln) c.2581G>C (p.Glu861Gln) n.2950G>C | |
13 | g.32337305G= | CA2082813070 | BRCA2 | c.2950G= (p.Glu984=) c.2581G= (p.Glu861=) n.2950G= | |
13 | g.32337305G>T | CA016874 | BRCA2 | c.2950G>T (p.Glu984Ter) c.2581G>T (p.Glu861Ter) n.2950G>T | ClinVar dbSNP |
13 | g.32337305dup | CA2837995347 | BRCA2 | c.2950dup (p.Glu984GlyfsTer4) c.2581dup (p.Glu861GlyfsTer4) n.2950dup | |
13 | g.32337305_32337309delinsGAAAA | CA2082813067 | BRCA2 | c.2950_2954delinsGAAAA (p.Glu984=) c.2581_2585delinsGAAAA (p.Glu861=) n.2950_2954delinsGAAAA | |
13 | g.32337306A= | CA2082813103 | BRCA2 | c.2951A= (p.Glu984=) c.2582A= (p.Glu861=) n.2951A= | |
13 | g.32337306A>C | CA387774365 | BRCA2 | c.2951A>C (p.Glu984Ala) c.2582A>C (p.Glu861Ala) n.2951A>C | |
13 | g.32337306A>G | CA6940647 | BRCA2 | c.2951A>G (p.Glu984Gly) c.2582A>G (p.Glu861Gly) n.2951A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337306A>T | CA387774369 | BRCA2 | c.2951A>T (p.Glu984Val) c.2582A>T (p.Glu861Val) n.2951A>T | |
13 | g.32337312dup | CA016881 | BRCA2 | c.2957dup (p.Asn986LysfsTer2) c.2588dup (p.Asn863LysfsTer2) n.2957dup | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337312del | CA10586507 | BRCA2 | c.2957del (p.Asn986IlefsTer5) c.2588del (p.Asn863IlefsTer5) n.2957del | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337309_32337312del | CA10589180 | BRCA2 | c.2954_2957del (p.Lys985IlefsTer5) c.2585_2588del (p.Lys862IlefsTer5) n.2954_2957del | ClinVar dbSNP |
13 | g.32337307A= | CA2082813112 | BRCA2 | c.2952A= (p.Glu984=) c.2583A= (p.Glu861=) n.2952A= | |
13 | g.32337307A>C | CA6940648 | BRCA2 | c.2952A>C (p.Glu984Asp) c.2583A>C (p.Glu861Asp) n.2952A>C | dbSNP ExAC gnomAD v2 |
13 | g.32337307A>G | CA483437254 | BRCA2 | c.2952A>G (p.Glu984=) c.2583A>G (p.Glu861=) n.2952A>G | dbSNP |
13 | g.32337307A>T | CA387774377 | BRCA2 | c.2952A>T (p.Glu984Asp) c.2583A>T (p.Glu861Asp) n.2952A>T | dbSNP |
13 | g.32337308A= | CA2082813119 | BRCA2 | c.2953A= (p.Lys985=) c.2584A= (p.Lys862=) n.2953A= | |
13 | g.32337308A>C | CA387774381 | BRCA2 | c.2953A>C (p.Lys985Gln) c.2584A>C (p.Lys862Gln) n.2953A>C | |
13 | g.32337308A>G | CA387774387 | BRCA2 | c.2953A>G (p.Lys985Glu) c.2584A>G (p.Lys862Glu) n.2953A>G | ClinVar dbSNP |
13 | g.32337308A>T | CA387774388 | BRCA2 | c.2953A>T (p.Lys985Ter) c.2584A>T (p.Lys862Ter) n.2953A>T | |
13 | g.32337309A>C | CA387774393 | BRCA2 | c.2954A>C (p.Lys985Thr) c.2585A>C (p.Lys862Thr) n.2954A>C | |
13 | g.32337309A>G | CA387774395 | BRCA2 | c.2954A>G (p.Lys985Arg) c.2585A>G (p.Lys862Arg) n.2954A>G | |
13 | g.32337309A>T | CA387774398 | BRCA2 | c.2954A>T (p.Lys985Ile) c.2585A>T (p.Lys862Ile) n.2954A>T | dbSNP |
13 | g.32337310A= | CA2082813127 | BRCA2 | c.2955A= (p.Lys985=) c.2586A= (p.Lys862=) n.2955A= | |
13 | g.32337310A>C | CA387774404 | BRCA2 | c.2955A>C (p.Lys985Asn) c.2586A>C (p.Lys862Asn) n.2955A>C | |
13 | g.32337310A>G | CA483437256 | BRCA2 | c.2955A>G (p.Lys985=) c.2586A>G (p.Lys862=) n.2955A>G | ClinVar dbSNP |
13 | g.32337310A>T | CA387774400 | BRCA2 | c.2955A>T (p.Lys985Asn) c.2586A>T (p.Lys862Asn) n.2955A>T | ClinVar dbSNP |
13 | g.32337310_32337313delinsAAAT | CA2082813128 | BRCA2 | c.2955_2958delinsAAAT (p.Lys985=) c.2586_2589delinsAAAT (p.Lys862=) n.2955_2958delinsAAAT | |
13 | g.32337311A= | CA2082813140 | BRCA2 | c.2956A= (p.Asn986=) c.2587A= (p.Asn863=) n.2956A= | |
13 | g.32337311A>C | CA387774410 | BRCA2 | c.2956A>C (p.Asn986His) c.2587A>C (p.Asn863His) n.2956A>C | dbSNP |
13 | g.32337311A>G | CA6940649 | BRCA2 | c.2956A>G (p.Asn986Asp) c.2587A>G (p.Asn863Asp) n.2956A>G | ClinVar dbSNP ExAC |
13 | g.32337311A>T | CA10579557 | BRCA2 | c.2956A>T (p.Asn986Tyr) c.2587A>T (p.Asn863Tyr) n.2956A>T | ClinVar dbSNP |
13 | g.32337314_32337316del | CA016908 | BRCA2 | c.2959_2961del (p.Asn987del) c.2590_2592del (p.Asn864del) n.2959_2961del | ClinVar dbSNP gnomAD v4 |