Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356392C>A | CA6941098 | BRCA2 | c.7436-36C>A (n.7436-36C>A) c.7067-36C>A (n.7067-36C>A) n.7436-36C>A c.7340-36C>A (n.7340-36C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356392C= | CA2082813886 | BRCA2 | c.7436-36C= (n.7436-36C=) c.7067-36C= (n.7067-36C=) n.7436-36C= c.7340-36C= (n.7340-36C=) | |
13 | g.32356392C>G | CA2622600573 | BRCA2 | c.7436-36C>G (n.7436-36C>G) c.7067-36C>G (n.7067-36C>G) n.7436-36C>G c.7340-36C>G (n.7340-36C>G) | dbSNP gnomAD v4 |
13 | g.32356392C>T | CA2727840304 | BRCA2 | c.7436-36C>T (n.7436-36C>T) c.7067-36C>T (n.7067-36C>T) n.7436-36C>T c.7340-36C>T (n.7340-36C>T) | dbSNP |
13 | g.32356393A>T | CA2727921935 | BRCA2 | c.7436-35A>T (n.7436-35A>T) c.7067-35A>T (n.7067-35A>T) n.7436-35A>T c.7340-35A>T (n.7340-35A>T) | dbSNP |
13 | g.32356394A= | CA2082813890 | BRCA2 | c.7436-34A= (n.7436-34A=) c.7067-34A= (n.7067-34A=) n.7436-34A= c.7340-34A= (n.7340-34A=) | |
13 | g.32356394A>G | CA609091274 | BRCA2 | c.7436-34A>G (n.7436-34A>G) c.7067-34A>G (n.7067-34A>G) n.7436-34A>G c.7340-34A>G (n.7340-34A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356394A>T | CA2727870102 | BRCA2 | c.7436-34A>T (n.7436-34A>T) c.7067-34A>T (n.7067-34A>T) n.7436-34A>T c.7340-34A>T (n.7340-34A>T) | dbSNP |
13 | g.32356395T>A | CA6941099 | BRCA2 | c.7436-33T>A (n.7436-33T>A) c.7067-33T>A (n.7067-33T>A) n.7436-33T>A c.7340-33T>A (n.7340-33T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356395T>C | CA247469549 | BRCA2 | c.7436-33T>C (n.7436-33T>C) c.7067-33T>C (n.7067-33T>C) n.7436-33T>C c.7340-33T>C (n.7340-33T>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356395T= | CA2082813892 | BRCA2 | c.7436-33T= (n.7436-33T=) c.7067-33T= (n.7067-33T=) n.7436-33T= c.7340-33T= (n.7340-33T=) | |
13 | g.32356397T>A | CA2575387997 | BRCA2 | c.7436-31T>A (n.7436-31T>A) c.7067-31T>A (n.7067-31T>A) n.7436-31T>A c.7340-31T>A (n.7340-31T>A) | |
13 | g.32356398T>A | CA609091275 | BRCA2 | c.7436-30T>A (n.7436-30T>A) c.7067-30T>A (n.7067-30T>A) n.7436-30T>A c.7340-30T>A (n.7340-30T>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356398T>C | CA609091276 | BRCA2 | c.7436-30T>C (n.7436-30T>C) c.7067-30T>C (n.7067-30T>C) n.7436-30T>C c.7340-30T>C (n.7340-30T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356398T>G | CA247469560 | BRCA2 | c.7436-30T>G (n.7436-30T>G) c.7067-30T>G (n.7067-30T>G) n.7436-30T>G c.7340-30T>G (n.7340-30T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356398T= | CA2082813897 | BRCA2 | c.7436-30T= (n.7436-30T=) c.7067-30T= (n.7067-30T=) n.7436-30T= c.7340-30T= (n.7340-30T=) | |
13 | g.32356404T>C | CA2727921952 | BRCA2 | c.7436-24T>C (n.7436-24T>C) c.7067-24T>C (n.7067-24T>C) n.7436-24T>C c.7340-24T>C (n.7340-24T>C) | dbSNP |
13 | g.32356404_32356405delinsTG | CA2082813899 | BRCA2 | c.7436-24_7436-23delinsTG (n.7436-24_7436-23delinsTG) c.7067-24_7067-23delinsTG (n.7067-24_7067-23delinsTG) n.7436-24_7436-23delinsTG c.7340-24_7340-23delinsTG (n.7340-24_7340-23delinsTG) | |
13 | g.32356405del | CA609091277 | BRCA2 | c.7436-23del (n.7436-23del) c.7067-23del (n.7067-23del) n.7436-23del c.7340-23del (n.7340-23del) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356405G>A | CA2727922013 | BRCA2 | c.7436-23G>A (n.7436-23G>A) c.7067-23G>A (n.7067-23G>A) n.7436-23G>A c.7340-23G>A (n.7340-23G>A) | dbSNP |
13 | g.32356405G>C | CA2727921955 | BRCA2 | c.7436-23G>C (n.7436-23G>C) c.7067-23G>C (n.7067-23G>C) n.7436-23G>C c.7340-23G>C (n.7340-23G>C) | dbSNP |
13 | g.32356405G>T | CA2727922076 | BRCA2 | c.7436-23G>T (n.7436-23G>T) c.7067-23G>T (n.7067-23G>T) n.7436-23G>T c.7340-23G>T (n.7340-23G>T) | dbSNP |
13 | g.32356406C= | CA2082813905 | BRCA2 | c.7436-22C= (n.7436-22C=) c.7067-22C= (n.7067-22C=) n.7436-22C= c.7340-22C= (n.7340-22C=) | |
13 | g.32356406C>G | CA6941100 | BRCA2 | c.7436-22C>G (n.7436-22C>G) c.7067-22C>G (n.7067-22C>G) n.7436-22C>G c.7340-22C>G (n.7340-22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356406C>T | CA2575387998 | BRCA2 | c.7436-22C>T (n.7436-22C>T) c.7067-22C>T (n.7067-22C>T) n.7436-22C>T c.7340-22C>T (n.7340-22C>T) | dbSNP |
13 | g.32356407T>C | CA2575387999 | BRCA2 | c.7436-21T>C (n.7436-21T>C) c.7067-21T>C (n.7067-21T>C) n.7436-21T>C c.7340-21T>C (n.7340-21T>C) | |
13 | g.32356408A= | CA2082813909 | BRCA2 | c.7436-20A= (n.7436-20A=) c.7067-20A= (n.7067-20A=) n.7436-20A= c.7340-20A= (n.7340-20A=) | |
13 | g.32356408A>G | CA10583130 | BRCA2 | c.7436-20A>G (n.7436-20A>G) c.7067-20A>G (n.7067-20A>G) n.7436-20A>G c.7340-20A>G (n.7340-20A>G) | ClinVar dbSNP |
13 | g.32356408A>T | CA2727841610 | BRCA2 | c.7436-20A>T (n.7436-20A>T) c.7067-20A>T (n.7067-20A>T) n.7436-20A>T c.7340-20A>T (n.7340-20A>T) | dbSNP |
13 | g.32356409del | CA2727922110 | BRCA2 | c.7436-19del (n.7436-19del) c.7067-19del (n.7067-19del) n.7436-19del c.7340-19del (n.7340-19del) | dbSNP |
13 | g.32356409A= | CA2082813918 | BRCA2 | c.7436-19A= (n.7436-19A=) c.7067-19A= (n.7067-19A=) n.7436-19A= c.7340-19A= (n.7340-19A=) | |
13 | g.32356409A>G | CA025084 | BRCA2 | c.7436-19A>G (n.7436-19A>G) c.7067-19A>G (n.7067-19A>G) n.7436-19A>G c.7340-19A>G (n.7340-19A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32356409A>T | CA2727836583 | BRCA2 | c.7436-19A>T (n.7436-19A>T) c.7067-19A>T (n.7067-19A>T) n.7436-19A>T c.7340-19A>T (n.7340-19A>T) | dbSNP |
13 | g.32356410G>A | CA2573149386 | BRCA2 | c.7436-18G>A (n.7436-18G>A) c.7067-18G>A (n.7067-18G>A) n.7436-18G>A c.7340-18G>A (n.7340-18G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32356410G>C | CA2727922129 | BRCA2 | c.7436-18G>C (n.7436-18G>C) c.7067-18G>C (n.7067-18G>C) n.7436-18G>C c.7340-18G>C (n.7340-18G>C) | dbSNP |
13 | g.32356410G>T | CA2727922130 | BRCA2 | c.7436-18G>T (n.7436-18G>T) c.7067-18G>T (n.7067-18G>T) n.7436-18G>T c.7340-18G>T (n.7340-18G>T) | dbSNP |
13 | g.32356410_32356414delinsGTATT | CA2082813924 | BRCA2 | c.7436-18_7436-14delinsGTATT (n.7436-18_7436-14delinsGTATT) c.7067-18_7067-14delinsGTATT (n.7067-18_7067-14delinsGTATT) n.7436-18_7436-14delinsGTATT c.7340-18_7340-14delinsGTATT (n.7340-18_7340-14delinsGTATT) | |
13 | g.32356411T>A | CA2727833950 | BRCA2 | c.7436-17T>A (n.7436-17T>A) c.7067-17T>A (n.7067-17T>A) n.7436-17T>A c.7340-17T>A (n.7340-17T>A) | dbSNP |
13 | g.32356411T>C | CA2727833951 | BRCA2 | c.7436-17T>C (n.7436-17T>C) c.7067-17T>C (n.7067-17T>C) n.7436-17T>C c.7340-17T>C (n.7340-17T>C) | dbSNP |
13 | g.32356411T>G | CA025083 | BRCA2 | c.7436-17T>G (n.7436-17T>G) c.7067-17T>G (n.7067-17T>G) n.7436-17T>G c.7340-17T>G (n.7340-17T>G) | ClinVar dbSNP |
13 | g.32356411T= | CA2082813932 | BRCA2 | c.7436-17T= (n.7436-17T=) c.7067-17T= (n.7067-17T=) n.7436-17T= c.7340-17T= (n.7340-17T=) | |
13 | g.32356415_32356418del | CA2082813930 | BRCA2 | c.7436-13_7436-10del (n.7436-13_7436-10del) c.7067-13_7067-10del (n.7067-13_7067-10del) n.7436-13_7436-10del c.7340-13_7340-10del (n.7340-13_7340-10del) | ClinVar dbSNP |
13 | g.32356412A>G | CA2580087456 | BRCA2 | c.7436-16A>G (n.7436-16A>G) c.7067-16A>G (n.7067-16A>G) n.7436-16A>G c.7340-16A>G (n.7340-16A>G) | ClinVar gnomAD v4 |
13 | g.32356413T>C | CA913188638 | BRCA2 | c.7436-15T>C (n.7436-15T>C) c.7067-15T>C (n.7067-15T>C) n.7436-15T>C c.7340-15T>C (n.7340-15T>C) | ClinVar dbSNP |
13 | g.32356413T= | CA2082813937 | BRCA2 | c.7436-15T= (n.7436-15T=) c.7067-15T= (n.7067-15T=) n.7436-15T= c.7340-15T= (n.7340-15T=) | |
13 | g.32356414T>G | CA025082 | BRCA2 | c.7436-14T>G (n.7436-14T>G) c.7067-14T>G (n.7067-14T>G) n.7436-14T>G c.7340-14T>G (n.7340-14T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356414T= | CA2082813942 | BRCA2 | c.7436-14T= (n.7436-14T=) c.7067-14T= (n.7067-14T=) n.7436-14T= c.7340-14T= (n.7340-14T=) | |
13 | g.32356415T>G | CA915946867 | BRCA2 | c.7436-13T>G (n.7436-13T>G) c.7067-13T>G (n.7067-13T>G) n.7436-13T>G c.7340-13T>G (n.7340-13T>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32356415T= | CA2082813949 | BRCA2 | c.7436-13T= (n.7436-13T=) c.7067-13T= (n.7067-13T=) n.7436-13T= c.7340-13T= (n.7340-13T=) | |
13 | g.32356416A>G | CA2499222285 | BRCA2 | c.7436-12A>G (n.7436-12A>G) c.7067-12A>G (n.7067-12A>G) n.7436-12A>G c.7340-12A>G (n.7340-12A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32356416A>T | CA2622600585 | BRCA2 | c.7436-12A>T (n.7436-12A>T) c.7067-12A>T (n.7067-12A>T) n.7436-12A>T c.7340-12A>T (n.7340-12A>T) | dbSNP gnomAD v4 |
13 | g.32356417T>C | CA915946868 | BRCA2 | c.7436-11T>C (n.7436-11T>C) c.7067-11T>C (n.7067-11T>C) n.7436-11T>C c.7340-11T>C (n.7340-11T>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32356417T= | CA2082813953 | BRCA2 | c.7436-11T= (n.7436-11T=) c.7067-11T= (n.7067-11T=) n.7436-11T= c.7340-11T= (n.7340-11T=) | |
13 | g.32356418T>A | CA2622600587 | BRCA2 | c.7436-10T>A (n.7436-10T>A) c.7067-10T>A (n.7067-10T>A) n.7436-10T>A c.7340-10T>A (n.7340-10T>A) | gnomAD v4 |
13 | g.32356418T>C | CA025081 | BRCA2 | c.7436-10T>C (n.7436-10T>C) c.7067-10T>C (n.7067-10T>C) n.7436-10T>C c.7340-10T>C (n.7340-10T>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32356418T= | CA2082813970 | BRCA2 | c.7436-10T= (n.7436-10T=) c.7067-10T= (n.7067-10T=) n.7436-10T= c.7340-10T= (n.7340-10T=) | |
13 | g.32356419C>A | CA025088 | BRCA2 | c.7436-9C>A (n.7436-9C>A) c.7067-9C>A (n.7067-9C>A) n.7436-9C>A c.7340-9C>A (n.7340-9C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356419C= | CA2082813975 | BRCA2 | c.7436-9C= (n.7436-9C=) c.7067-9C= (n.7067-9C=) n.7436-9C= c.7340-9C= (n.7340-9C=) | |
13 | g.32356419C>G | CA2499222286 | BRCA2 | c.7436-9C>G (n.7436-9C>G) c.7067-9C>G (n.7067-9C>G) n.7436-9C>G c.7340-9C>G (n.7340-9C>G) | ClinVar dbSNP |
13 | g.32356419C>T | CA1139771873 | BRCA2 | c.7436-9C>T (n.7436-9C>T) c.7067-9C>T (n.7067-9C>T) n.7436-9C>T c.7340-9C>T (n.7340-9C>T) | ClinVar dbSNP |
13 | g.32356420T>C | CA025087 | BRCA2 | c.7436-8T>C (n.7436-8T>C) c.7067-8T>C (n.7067-8T>C) n.7436-8T>C c.7340-8T>C (n.7340-8T>C) | ClinVar dbSNP |
13 | g.32356420T>G | CA2739277512 | BRCA2 | c.7436-8T>G (n.7436-8T>G) c.7067-8T>G (n.7067-8T>G) n.7436-8T>G c.7340-8T>G (n.7340-8T>G) | ClinVar |
13 | g.32356420T= | CA2082813979 | BRCA2 | c.7436-8T= (n.7436-8T=) c.7067-8T= (n.7067-8T=) n.7436-8T= c.7340-8T= (n.7340-8T=) | |
13 | g.32356422del | CA2573053821 | BRCA2 | c.7436-6del (n.7436-6del) c.7067-6del (n.7067-6del) n.7436-6del c.7340-6del (n.7340-6del) | ClinVar dbSNP |
13 | g.32356422_32356424delinsGG | CA2697551775 | BRCA2 | c.7436-6_7436-4delinsGG (n.7436-6_7436-4delinsGG) c.7067-6_7067-4delinsGG (n.7067-6_7067-4delinsGG) n.7436-6_7436-4delinsGG c.7340-6_7340-4delinsGG (n.7340-6_7340-4delinsGG) | ClinVar |
13 | g.32356422_32356426delinsTGATA | CA2082813981 | BRCA2 | c.7436-6_7436-2delinsTGATA (n.7436-6_7436-2delinsTGATA) c.7067-6_7067-2delinsTGATA (n.7067-6_7067-2delinsTGATA) n.7436-6_7436-2delinsTGATA c.7340-6_7340-2delinsTGATA (n.7340-6_7340-2delinsTGATA) | |
13 | g.32356423G>A | CA2499222287 | BRCA2 | c.7436-5G>A (n.7436-5G>A) c.7067-5G>A (n.7067-5G>A) n.7436-5G>A c.7340-5G>A (n.7340-5G>A) | ClinVar dbSNP |
13 | g.32356423G>C | CA2727922257 | BRCA2 | c.7436-5G>C (n.7436-5G>C) c.7067-5G>C (n.7067-5G>C) n.7436-5G>C c.7340-5G>C (n.7340-5G>C) | dbSNP |
13 | g.32356423G>T | CA2727922285 | BRCA2 | c.7436-5G>T (n.7436-5G>T) c.7067-5G>T (n.7067-5G>T) n.7436-5G>T c.7340-5G>T (n.7340-5G>T) | dbSNP |
13 | g.32356426_32356429del | CA10579738 | BRCA2 | c.7436-2_7437del c.7067-2_7068del n.7436-2_7437del c.7340-2_7341del | ClinVar dbSNP |
13 | g.32356424A= | CA2082813997 | BRCA2 | c.7436-4A= (n.7436-4A=) c.7067-4A= (n.7067-4A=) n.7436-4A= c.7340-4A= (n.7340-4A=) | |
13 | g.32356424A>C | CA2798720783 | BRCA2 | c.7436-4A>C (n.7436-4A>C) c.7067-4A>C (n.7067-4A>C) n.7436-4A>C c.7340-4A>C (n.7340-4A>C) | |
13 | g.32356424A>G | CA025086 | BRCA2 | c.7436-4A>G (n.7436-4A>G) c.7067-4A>G (n.7067-4A>G) n.7436-4A>G c.7340-4A>G (n.7340-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356424A>T | CA658656424 | BRCA2 | c.7436-4A>T (n.7436-4A>T) c.7067-4A>T (n.7067-4A>T) n.7436-4A>T c.7340-4A>T (n.7340-4A>T) | ClinVar dbSNP |
13 | g.32356425T>C | CA915946869 | BRCA2 | c.7436-3T>C (n.7436-3T>C) c.7067-3T>C (n.7067-3T>C) n.7436-3T>C c.7340-3T>C (n.7340-3T>C) | ClinVar dbSNP |
13 | g.32356425T= | CA2082814003 | BRCA2 | c.7436-3T= (n.7436-3T=) c.7067-3T= (n.7067-3T=) n.7436-3T= c.7340-3T= (n.7340-3T=) | |
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356426A= | CA2082814009 | BRCA2 | c.7436-2A= (n.7436-2A=) c.7067-2A= (n.7067-2A=) n.7436-2A= c.7340-2A= (n.7340-2A=) | |
13 | g.32356426A>C | CA387742928 | BRCA2 | c.7436-2A>C (n.7436-2A>C) c.7067-2A>C (n.7067-2A>C) n.7436-2A>C c.7340-2A>C (n.7340-2A>C) | ClinVar dbSNP |
13 | g.32356426A>G | CA10602538 | BRCA2 | c.7436-2A>G (n.7436-2A>G) c.7067-2A>G (n.7067-2A>G) n.7436-2A>G c.7340-2A>G (n.7340-2A>G) | ClinVar dbSNP |
13 | g.32356426A>T | CA025085 | BRCA2 | c.7436-2A>T (n.7436-2A>T) c.7067-2A>T (n.7067-2A>T) n.7436-2A>T c.7340-2A>T (n.7340-2A>T) | ClinVar dbSNP |
13 | g.32356427G>A | CA387742943 | BRCA2 | c.7436-1G>A (n.7436-1G>A) c.7067-1G>A (n.7067-1G>A) n.7436-1G>A c.7340-1G>A (n.7340-1G>A) | ClinVar dbSNP |
13 | g.32356427G>C | CA10602539 | BRCA2 | c.7436-1G>C (n.7436-1G>C) c.7067-1G>C (n.7067-1G>C) n.7436-1G>C c.7340-1G>C (n.7340-1G>C) | ClinVar dbSNP |
13 | g.32356427G= | CA2082814024 | BRCA2 | c.7436-1G= (n.7436-1G=) c.7067-1G= (n.7067-1G=) n.7436-1G= c.7340-1G= (n.7340-1G=) | |
13 | g.32356427G>T | CA387742947 | BRCA2 | c.7436-1G>T (n.7436-1G>T) c.7067-1G>T (n.7067-1G>T) n.7436-1G>T c.7340-1G>T (n.7340-1G>T) | ClinVar dbSNP |
13 | g.32356428A= | CA2082814037 | BRCA2 | c.7436A= (p.Asp2479=) c.7067A= (p.Asp2356=) c.1A= n.7436A= c.7340A= (p.Asp2447=) | |
13 | g.32356428A>C | CA387742949 | BRCA2 | c.7436A>C (p.Asp2479Ala) c.7067A>C (p.Asp2356Ala) c.1A>C n.7436A>C c.7340A>C (p.Asp2447Ala) | |
13 | g.32356428A>G | CA025089 | BRCA2 | c.7436A>G (p.Asp2479Gly) c.7067A>G (p.Asp2356Gly) c.1A>G n.7436A>G c.7340A>G (p.Asp2447Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32356428A>T | CA387742952 | BRCA2 | c.7436A>T (p.Asp2479Val) c.7067A>T (p.Asp2356Val) c.1A>T n.7436A>T c.7340A>T (p.Asp2447Val) | dbSNP |
13 | g.32356429T>A | CA387742954 | BRCA2 | c.7437T>A (p.Asp2479Glu) c.7068T>A (p.Asp2356Glu) c.2T>A n.7437T>A c.7341T>A (p.Asp2447Glu) | |
13 | g.32356429T>C | CA483260348 | BRCA2 | c.7437T>C (p.Asp2479=) c.7068T>C (p.Asp2356=) c.2T>C n.7437T>C c.7341T>C (p.Asp2447=) | ClinVar |
13 | g.32356429T>G | CA387742957 | BRCA2 | c.7437T>G (p.Asp2479Glu) c.7068T>G (p.Asp2356Glu) c.2T>G n.7437T>G c.7341T>G (p.Asp2447Glu) | ClinVar |
13 | g.32356430T>A | CA387742961 | BRCA2 | c.7438T>A (p.Leu2480Ile) c.7069T>A (p.Leu2357Ile) c.3T>A n.7438T>A c.7342T>A (p.Leu2448Ile) | dbSNP |
13 | g.32356430T>C | CA483260349 | BRCA2 | c.7438T>C (p.Leu2480=) c.7069T>C (p.Leu2357=) c.3T>C n.7438T>C c.7342T>C (p.Leu2448=) | ClinVar dbSNP |
13 | g.32356430T>G | CA025090 | BRCA2 | c.7438T>G (p.Leu2480Val) c.7069T>G (p.Leu2357Val) c.3T>G n.7438T>G c.7342T>G (p.Leu2448Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356430T= | CA2082814049 | BRCA2 | c.7438T= (p.Leu2480=) c.7069T= (p.Leu2357=) c.3T= n.7438T= c.7342T= (p.Leu2448=) | |
13 | g.32356431T>A | CA387742964 | BRCA2 | c.7439T>A (p.Leu2480Ter) c.7070T>A (p.Leu2357Ter) c.4T>A n.7439T>A c.7343T>A (p.Leu2448Ter) | ClinVar dbSNP |
13 | g.32356431T>C | CA387742966 | BRCA2 | c.7439T>C (p.Leu2480Ser) c.7070T>C (p.Leu2357Ser) c.4T>C n.7439T>C c.7343T>C (p.Leu2448Ser) | gnomAD v4 |
13 | g.32356431T>G | CA387742969 | BRCA2 | c.7439T>G (p.Leu2480Ter) c.7070T>G (p.Leu2357Ter) c.4T>G n.7439T>G c.7343T>G (p.Leu2448Ter) | |
13 | g.32356432A= | CA2082814055 | BRCA2 | c.7440A= (p.Leu2480=) c.7071A= (p.Leu2357=) c.5A= n.7440A= c.7344A= (p.Leu2448=) | |
13 | g.32356432A>C | CA387742971 | BRCA2 | c.7440A>C (p.Leu2480Phe) c.7071A>C (p.Leu2357Phe) c.5A>C n.7440A>C c.7344A>C (p.Leu2448Phe) | ClinVar dbSNP |
13 | g.32356432A>G | CA483260350 | BRCA2 | c.7440A>G (p.Leu2480=) c.7071A>G (p.Leu2357=) c.5A>G n.7440A>G c.7344A>G (p.Leu2448=) | |
13 | g.32356432A>T | CA387742974 | BRCA2 | c.7440A>T (p.Leu2480Phe) c.7071A>T (p.Leu2357Phe) c.5A>T n.7440A>T c.7344A>T (p.Leu2448Phe) | dbSNP |
13 | g.32356433A= | CA2082814064 | BRCA2 | c.7441A= (p.Ile2481=) c.7072A= (p.Ile2358=) c.6A= n.7441A= c.7345A= (p.Ile2449=) | |
13 | g.32356433A>C | CA387742976 | BRCA2 | c.7441A>C (p.Ile2481Leu) c.7072A>C (p.Ile2358Leu) c.6A>C n.7441A>C c.7345A>C (p.Ile2449Leu) | |
13 | g.32356433A>G | CA387742978 | BRCA2 | c.7441A>G (p.Ile2481Val) c.7072A>G (p.Ile2358Val) c.6A>G n.7441A>G c.7345A>G (p.Ile2449Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356433A>T | CA6941101 | BRCA2 | c.7441A>T (p.Ile2481Phe) c.7072A>T (p.Ile2358Phe) c.6A>T n.7441A>T c.7345A>T (p.Ile2449Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356433_32356434delinsAT | CA2082814063 | BRCA2 | c.7441_7442delinsAT (p.Ile2481=) c.7072_7073delinsAT (p.Ile2358=) c.6_7delinsAT n.7441_7442delinsAT c.7345_7346delinsAT (p.Ile2449=) | |
13 | g.32356434T>A | CA387742982 | BRCA2 | c.7442T>A (p.Ile2481Asn) c.7073T>A (p.Ile2358Asn) c.7T>A n.7442T>A c.7346T>A (p.Ile2449Asn) | dbSNP |
13 | g.32356434T>C | CA387742985 | BRCA2 | c.7442T>C (p.Ile2481Thr) c.7073T>C (p.Ile2358Thr) c.7T>C n.7442T>C c.7346T>C (p.Ile2449Thr) | dbSNP |
13 | g.32356434T>G | CA387742987 | BRCA2 | c.7442T>G (p.Ile2481Ser) c.7073T>G (p.Ile2358Ser) c.7T>G n.7442T>G c.7346T>G (p.Ile2449Ser) | ClinVar |
13 | g.32356435del | CA025092 | BRCA2 | c.7443del (p.Thr2482GlnfsTer?) c.7074del (p.Thr2359GlnfsTer?) c.8del n.7443del c.7347del (p.Thr2450GlnfsTer?) | ClinVar dbSNP |
13 | g.32356435T>A | CA483260351 | BRCA2 | c.7443T>A (p.Ile2481=) c.7074T>A (p.Ile2358=) c.8T>A n.7443T>A c.7347T>A (p.Ile2449=) | |
13 | g.32356435T>C | CA483260352 | BRCA2 | c.7443T>C (p.Ile2481=) c.7074T>C (p.Ile2358=) c.8T>C n.7443T>C c.7347T>C (p.Ile2449=) | |
13 | g.32356435T>G | CA387742997 | BRCA2 | c.7443T>G (p.Ile2481Met) c.7074T>G (p.Ile2358Met) c.8T>G n.7443T>G c.7347T>G (p.Ile2449Met) | |
13 | g.32356436A= | CA2082814068 | BRCA2 | c.7444A= (p.Thr2482=) c.7075A= (p.Thr2359=) c.9A= n.7444A= c.7348A= (p.Thr2450=) | |
13 | g.32356436A>C | CA387743007 | BRCA2 | c.7444A>C (p.Thr2482Pro) c.7075A>C (p.Thr2359Pro) c.9A>C n.7444A>C c.7348A>C (p.Thr2450Pro) | |
13 | g.32356436A>G | CA387743003 | BRCA2 | c.7444A>G (p.Thr2482Ala) c.7075A>G (p.Thr2359Ala) c.9A>G n.7444A>G c.7348A>G (p.Thr2450Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32356436A>T | CA387743001 | BRCA2 | c.7444A>T (p.Thr2482Ser) c.7075A>T (p.Thr2359Ser) c.9A>T n.7444A>T c.7348A>T (p.Thr2450Ser) | dbSNP |
13 | g.32356437C>A | CA387743014 | BRCA2 | c.7445C>A (p.Thr2482Lys) c.7076C>A (p.Thr2359Lys) c.10C>A n.7445C>A c.7349C>A (p.Thr2450Lys) | |
13 | g.32356437C= | CA2082814070 | BRCA2 | c.7445C= (p.Thr2482=) c.7076C= (p.Thr2359=) c.10C= n.7445C= c.7349C= (p.Thr2450=) | |
13 | g.32356437C>G | CA387743016 | BRCA2 | c.7445C>G (p.Thr2482Arg) c.7076C>G (p.Thr2359Arg) c.10C>G n.7445C>G c.7349C>G (p.Thr2450Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356437C>T | CA387743018 | BRCA2 | c.7445C>T (p.Thr2482Ile) c.7076C>T (p.Thr2359Ile) c.10C>T n.7445C>T c.7349C>T (p.Thr2450Ile) | dbSNP |
13 | g.32356437_32356438delinsCA | CA2082814071 | BRCA2 | c.7445_7446delinsCA (p.Thr2482=) c.7076_7077delinsCA (p.Thr2359=) c.10_11delinsCA n.7445_7446delinsCA c.7349_7350delinsCA (p.Thr2450=) | |
13 | g.32356438A>C | CA483260353 | BRCA2 | c.7446A>C (p.Thr2482=) c.7077A>C (p.Thr2359=) c.11A>C n.7446A>C c.7350A>C (p.Thr2450=) | |
13 | g.32356438A>G | CA483260354 | BRCA2 | c.7446A>G (p.Thr2482=) c.7077A>G (p.Thr2359=) c.11A>G n.7446A>G c.7350A>G (p.Thr2450=) | gnomAD v4 |
13 | g.32356438A>T | CA483260355 | BRCA2 | c.7446A>T (p.Thr2482=) c.7077A>T (p.Thr2359=) c.11A>T n.7446A>T c.7350A>T (p.Thr2450=) | dbSNP |
13 | g.32356439del | CA16614002 | BRCA2 | c.7447del (p.Ser2483ValfsTer?) c.7078del (p.Ser2360ValfsTer?) c.12del n.7447del c.7351del (p.Ser2451ValfsTer?) | ClinVar dbSNP |
13 | g.32356439A= | CA2082814082 | BRCA2 | c.7447A= (p.Ser2483=) c.7078A= (p.Ser2360=) c.12A= n.7447A= c.7351A= (p.Ser2451=) | |
13 | g.32356439A>C | CA387743021 | BRCA2 | c.7447A>C (p.Ser2483Arg) c.7078A>C (p.Ser2360Arg) c.12A>C n.7447A>C c.7351A>C (p.Ser2451Arg) | |
13 | g.32356439A>G | CA025093 | BRCA2 | c.7447A>G (p.Ser2483Gly) c.7078A>G (p.Ser2360Gly) c.12A>G n.7447A>G c.7351A>G (p.Ser2451Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356439A>T | CA387743026 | BRCA2 | c.7447A>T (p.Ser2483Cys) c.7078A>T (p.Ser2360Cys) c.12A>T n.7447A>T c.7351A>T (p.Ser2451Cys) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32356440G>A | CA025094 | BRCA2 | c.7448G>A (p.Ser2483Asn) c.7079G>A (p.Ser2360Asn) c.13G>A n.7448G>A c.7352G>A (p.Ser2451Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356440G>C | CA387743029 | BRCA2 | c.7448G>C (p.Ser2483Thr) c.7079G>C (p.Ser2360Thr) c.13G>C n.7448G>C c.7352G>C (p.Ser2451Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356440G= | CA2082814090 | BRCA2 | c.7448G= (p.Ser2483=) c.7079G= (p.Ser2360=) c.13G= n.7448G= c.7352G= (p.Ser2451=) | |
13 | g.32356440G>T | CA387743032 | BRCA2 | c.7448G>T (p.Ser2483Ile) c.7079G>T (p.Ser2360Ile) c.13G>T n.7448G>T c.7352G>T (p.Ser2451Ile) | |
13 | g.32356441T>A | CA387743035 | BRCA2 | c.7449T>A (p.Ser2483Arg) c.7080T>A (p.Ser2360Arg) c.14T>A n.7449T>A c.7353T>A (p.Ser2451Arg) | dbSNP |
13 | g.32356441T>C | CA483260356 | BRCA2 | c.7449T>C (p.Ser2483=) c.7080T>C (p.Ser2360=) c.14T>C n.7449T>C c.7353T>C (p.Ser2451=) | dbSNP |
13 | g.32356441T>G | CA387743039 | BRCA2 | c.7449T>G (p.Ser2483Arg) c.7080T>G (p.Ser2360Arg) c.14T>G n.7449T>G c.7353T>G (p.Ser2451Arg) | ClinVar dbSNP |
13 | g.32356441T= | CA2082814098 | BRCA2 | c.7449T= (p.Ser2483=) c.7080T= (p.Ser2360=) c.14T= n.7449T= c.7353T= (p.Ser2451=) | |
13 | g.32356442C>A | CA387743042 | BRCA2 | c.7450C>A (p.Leu2484Ile) c.7081C>A (p.Leu2361Ile) c.15C>A n.7450C>A c.7354C>A (p.Leu2452Ile) | |
13 | g.32356442C>G | CA387743052 | BRCA2 | c.7450C>G (p.Leu2484Val) c.7081C>G (p.Leu2361Val) c.15C>G n.7450C>G c.7354C>G (p.Leu2452Val) | dbSNP |
13 | g.32356442C>T | CA387743055 | BRCA2 | c.7450C>T (p.Leu2484Phe) c.7081C>T (p.Leu2361Phe) c.15C>T n.7450C>T c.7354C>T (p.Leu2452Phe) | dbSNP gnomAD v4 |
13 | g.32356443T>A | CA387743063 | BRCA2 | c.7451T>A (p.Leu2484His) c.7082T>A (p.Leu2361His) c.16T>A n.7451T>A c.7355T>A (p.Leu2452His) | |
13 | g.32356443T>C | CA387743069 | BRCA2 | c.7451T>C (p.Leu2484Pro) c.7082T>C (p.Leu2361Pro) c.16T>C n.7451T>C c.7355T>C (p.Leu2452Pro) | |
13 | g.32356443T>G | CA387743060 | BRCA2 | c.7451T>G (p.Leu2484Arg) c.7082T>G (p.Leu2361Arg) c.16T>G n.7451T>G c.7355T>G (p.Leu2452Arg) | |
13 | g.32356444T>A | CA483260357 | BRCA2 | c.7452T>A (p.Leu2484=) c.7083T>A (p.Leu2361=) c.17T>A n.7452T>A c.7356T>A (p.Leu2452=) | |
13 | g.32356444T>C | CA483260358 | BRCA2 | c.7452T>C (p.Leu2484=) c.7083T>C (p.Leu2361=) c.17T>C n.7452T>C c.7356T>C (p.Leu2452=) | ClinVar dbSNP |
13 | g.32356444T>G | CA483260359 | BRCA2 | c.7452T>G (p.Leu2484=) c.7083T>G (p.Leu2361=) c.17T>G n.7452T>G c.7356T>G (p.Leu2452=) | |
13 | g.32356445C>A | CA387743073 | BRCA2 | c.7453C>A (p.Gln2485Lys) c.7084C>A (p.Gln2362Lys) c.18C>A n.7453C>A c.7357C>A (p.Gln2453Lys) | dbSNP gnomAD v4 |
13 | g.32356445C= | CA2082814105 | BRCA2 | c.7453C= (p.Gln2485=) c.7084C= (p.Gln2362=) c.18C= n.7453C= c.7357C= (p.Gln2453=) | |
13 | g.32356445C>G | CA387743077 | BRCA2 | c.7453C>G (p.Gln2485Glu) c.7084C>G (p.Gln2362Glu) c.18C>G n.7453C>G c.7357C>G (p.Gln2453Glu) | dbSNP |
13 | g.32356445C>T | CA387743079 | BRCA2 | c.7453C>T (p.Gln2485Ter) c.7084C>T (p.Gln2362Ter) c.18C>T n.7453C>T c.7357C>T (p.Gln2453Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356446A>C | CA387743081 | BRCA2 | c.7454A>C (p.Gln2485Pro) c.7085A>C (p.Gln2362Pro) c.19A>C n.7454A>C c.7358A>C (p.Gln2453Pro) | |
13 | g.32356446A>G | CA387743085 | BRCA2 | c.7454A>G (p.Gln2485Arg) c.7085A>G (p.Gln2362Arg) c.19A>G n.7454A>G c.7358A>G (p.Gln2453Arg) | dbSNP |
13 | g.32356446A>T | CA387743088 | BRCA2 | c.7454A>T (p.Gln2485Leu) c.7085A>T (p.Gln2362Leu) c.19A>T n.7454A>T c.7358A>T (p.Gln2453Leu) | dbSNP |
13 | g.32356446_32356472delinsAGAATGCCAGAGATATACAGGATATGC | CA2082814115 | BRCA2 | c.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2485=) c.7085_7111delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2362=) c.19_45delinsAGAATGCCAGAGATATACAGGATATGC n.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC c.7358_7384delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2453=) | |
13 | g.32356447G>A | CA483260360 | BRCA2 | c.7455G>A (p.Gln2485=) c.7086G>A (p.Gln2362=) c.20G>A n.7455G>A c.7359G>A (p.Gln2453=) | ClinVar dbSNP |
13 | g.32356447G>C | CA387743092 | BRCA2 | c.7455G>C (p.Gln2485His) c.7086G>C (p.Gln2362His) c.20G>C n.7455G>C c.7359G>C (p.Gln2453His) | dbSNP |
13 | g.32356447G>T | CA387743095 | BRCA2 | c.7455G>T (p.Gln2485His) c.7086G>T (p.Gln2362His) c.20G>T n.7455G>T c.7359G>T (p.Gln2453His) | |
13 | g.32356451_32356476del | CA16619762 | BRCA2 | c.7459_7484del (p.Ala2487Ter) c.7090_7115del (p.Ala2364Ter) c.24_49del n.7459_7484del c.7363_7388del (p.Ala2455Ter) | ClinVar dbSNP |
13 | g.32356448A= | CA2082814126 | BRCA2 | c.7456A= (p.Asn2486=) c.7087A= (p.Asn2363=) c.21A= n.7456A= c.7360A= (p.Asn2454=) | |
13 | g.32356448A>C | CA387743098 | BRCA2 | c.7456A>C (p.Asn2486His) c.7087A>C (p.Asn2363His) c.21A>C n.7456A>C c.7360A>C (p.Asn2454His) | |
13 | g.32356448A>G | CA025095 | BRCA2 | c.7456A>G (p.Asn2486Asp) c.7087A>G (p.Asn2363Asp) c.21A>G n.7456A>G c.7360A>G (p.Asn2454Asp) | ClinVar dbSNP |
13 | g.32356448A>T | CA387743105 | BRCA2 | c.7456A>T (p.Asn2486Tyr) c.7087A>T (p.Asn2363Tyr) c.21A>T n.7456A>T c.7360A>T (p.Asn2454Tyr) | dbSNP |
13 | g.32356449A= | CA2082814132 | BRCA2 | c.7457A= (p.Asn2486=) c.7088A= (p.Asn2363=) c.22A= n.7457A= c.7361A= (p.Asn2454=) | |
13 | g.32356449A>C | CA387743113 | BRCA2 | c.7457A>C (p.Asn2486Thr) c.7088A>C (p.Asn2363Thr) c.22A>C n.7457A>C c.7361A>C (p.Asn2454Thr) | |
13 | g.32356449A>G | CA025096 | BRCA2 | c.7457A>G (p.Asn2486Ser) c.7088A>G (p.Asn2363Ser) c.22A>G n.7457A>G c.7361A>G (p.Asn2454Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32356449A>T | CA387743108 | BRCA2 | c.7457A>T (p.Asn2486Ile) c.7088A>T (p.Asn2363Ile) c.22A>T n.7457A>T c.7361A>T (p.Asn2454Ile) | |
13 | g.32356450T>A | CA387743117 | BRCA2 | c.7458T>A (p.Asn2486Lys) c.7089T>A (p.Asn2363Lys) c.23T>A n.7458T>A c.7362T>A (p.Asn2454Lys) | dbSNP |
13 | g.32356450T>C | CA483260361 | BRCA2 | c.7458T>C (p.Asn2486=) c.7089T>C (p.Asn2363=) c.23T>C n.7458T>C c.7362T>C (p.Asn2454=) | ClinVar dbSNP |
13 | g.32356450T>G | CA387743121 | BRCA2 | c.7458T>G (p.Asn2486Lys) c.7089T>G (p.Asn2363Lys) c.23T>G n.7458T>G c.7362T>G (p.Asn2454Lys) | |
13 | g.32356451G>A | CA387743124 | BRCA2 | c.7459G>A (p.Ala2487Thr) c.7090G>A (p.Ala2364Thr) c.24G>A n.7459G>A c.7363G>A (p.Ala2455Thr) | ClinVar |
13 | g.32356451G>C | CA387743125 | BRCA2 | c.7459G>C (p.Ala2487Pro) c.7090G>C (p.Ala2364Pro) c.24G>C n.7459G>C c.7363G>C (p.Ala2455Pro) | |
13 | g.32356451G= | CA2082814135 | BRCA2 | c.7459G= (p.Ala2487=) c.7090G= (p.Ala2364=) c.24G= n.7459G= c.7363G= (p.Ala2455=) | |
13 | g.32356451G>T | CA387743127 | BRCA2 | c.7459G>T (p.Ala2487Ser) c.7090G>T (p.Ala2364Ser) c.24G>T n.7459G>T c.7363G>T (p.Ala2455Ser) | ClinVar dbSNP |
13 | g.32356452C>A | CA387743130 | BRCA2 | c.7460C>A (p.Ala2487Asp) c.7091C>A (p.Ala2364Asp) c.25C>A n.7460C>A c.7364C>A (p.Ala2455Asp) | dbSNP |
13 | g.32356452C>G | CA387743134 | BRCA2 | c.7460C>G (p.Ala2487Gly) c.7091C>G (p.Ala2364Gly) c.25C>G n.7460C>G c.7364C>G (p.Ala2455Gly) | dbSNP |
13 | g.32356452C>T | CA387743136 | BRCA2 | c.7460C>T (p.Ala2487Val) c.7091C>T (p.Ala2364Val) c.25C>T n.7460C>T c.7364C>T (p.Ala2455Val) | dbSNP |
13 | g.32356453C>A | CA483260362 | BRCA2 | c.7461C>A (p.Ala2487=) c.7092C>A (p.Ala2364=) c.26C>A n.7461C>A c.7365C>A (p.Ala2455=) | dbSNP COSMIC COSMIC |
13 | g.32356453C>G | CA483260363 | BRCA2 | c.7461C>G (p.Ala2487=) c.7092C>G (p.Ala2364=) c.26C>G n.7461C>G c.7365C>G (p.Ala2455=) | ClinVar dbSNP |
13 | g.32356453C>T | CA483260364 | BRCA2 | c.7461C>T (p.Ala2487=) c.7092C>T (p.Ala2364=) c.26C>T n.7461C>T c.7365C>T (p.Ala2455=) | dbSNP |
13 | g.32356454A= | CA2082814140 | BRCA2 | c.7462A= (p.Arg2488=) c.7093A= (p.Arg2365=) c.27A= n.7462A= c.7366A= (p.Arg2456=) | |
13 | g.32356454A>C | CA483260365 | BRCA2 | c.7462A>C (p.Arg2488=) c.7093A>C (p.Arg2365=) c.27A>C n.7462A>C c.7366A>C (p.Arg2456=) | gnomAD v4 |
13 | g.32356454A>G | CA6941102 | BRCA2 | c.7462A>G (p.Arg2488Gly) c.7093A>G (p.Arg2365Gly) c.27A>G n.7462A>G c.7366A>G (p.Arg2456Gly) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32356454A>T | CA387743139 | BRCA2 | c.7462A>T (p.Arg2488Ter) c.7093A>T (p.Arg2365Ter) c.27A>T n.7462A>T c.7366A>T (p.Arg2456Ter) | dbSNP |
13 | g.32356455G>A | CA025097 | BRCA2 | c.7463G>A (p.Arg2488Lys) c.7094G>A (p.Arg2365Lys) c.28G>A n.7463G>A c.7367G>A (p.Arg2456Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356455G>C | CA387743142 | BRCA2 | c.7463G>C (p.Arg2488Thr) c.7094G>C (p.Arg2365Thr) c.28G>C n.7463G>C c.7367G>C (p.Arg2456Thr) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32356455G= | CA2082814150 | BRCA2 | c.7463G= (p.Arg2488=) c.7094G= (p.Arg2365=) c.28G= n.7463G= c.7367G= (p.Arg2456=) | |
13 | g.32356455G>T | CA387743145 | BRCA2 | c.7463G>T (p.Arg2488Ile) c.7094G>T (p.Arg2365Ile) c.28G>T n.7463G>T c.7367G>T (p.Arg2456Ile) | |
13 | g.32356455_32356456insTA | CA658823745 | BRCA2 | c.7463_7464insTA (p.Arg2488SerfsTer?) c.7094_7095insTA (p.Arg2365SerfsTer?) c.28_29insTA n.7463_7464insTA c.7367_7368insTA (p.Arg2456SerfsTer?) | ClinVar dbSNP |
13 | g.32356456A= | CA2082814166 | BRCA2 | c.7464A= (p.Arg2488=) c.7095A= (p.Arg2365=) c.29A= n.7464A= c.7368A= (p.Arg2456=) | |
13 | g.32356456A>C | CA025098 | BRCA2 | c.7464A>C (p.Arg2488Ser) c.7095A>C (p.Arg2365Ser) c.29A>C n.7464A>C c.7368A>C (p.Arg2456Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356456A>G | CA483260366 | BRCA2 | c.7464A>G (p.Arg2488=) c.7095A>G (p.Arg2365=) c.29A>G n.7464A>G c.7368A>G (p.Arg2456=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356456A>T | CA387743165 | BRCA2 | c.7464A>T (p.Arg2488Ser) c.7095A>T (p.Arg2365Ser) c.29A>T n.7464A>T c.7368A>T (p.Arg2456Ser) | |
13 | g.32356456_32356457insTA | CA10586575 | BRCA2 | c.7464_7465insTA (p.Asp2489Ter) c.7095_7096insTA (p.Asp2366Ter) c.29_30insTA n.7464_7465insTA c.7368_7369insTA (p.Asp2457Ter) | ClinVar dbSNP |
13 | g.32356457G>A | CA387743173 | BRCA2 | c.7465G>A (p.Asp2489Asn) c.7096G>A (p.Asp2366Asn) c.30G>A n.7465G>A c.7369G>A (p.Asp2457Asn) | ClinVar dbSNP |
13 | g.32356457G>C | CA387743172 | BRCA2 | c.7465G>C (p.Asp2489His) c.7096G>C (p.Asp2366His) c.30G>C n.7465G>C c.7369G>C (p.Asp2457His) | dbSNP |
13 | g.32356457G= | CA2082814181 | BRCA2 | c.7465G= (p.Asp2489=) c.7096G= (p.Asp2366=) c.30G= n.7465G= c.7369G= (p.Asp2457=) | |
13 | g.32356457G>T | CA387743174 | BRCA2 | c.7465G>T (p.Asp2489Tyr) c.7096G>T (p.Asp2366Tyr) c.30G>T n.7465G>T c.7369G>T (p.Asp2457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356462_32356470del | CA2580614679 | BRCA2 | c.7470_7478del (p.Ile2490_Asp2492del) c.7101_7109del (p.Ile2367_Asp2369del) c.35_43del n.7470_7478del c.7374_7382del (p.Ile2458_Asp2460del) | ClinVar |
13 | g.32356458A= | CA2082814190 | BRCA2 | c.7466A= (p.Asp2489=) c.7097A= (p.Asp2366=) c.31A= n.7466A= c.7370A= (p.Asp2457=) | |
13 | g.32356458A>C | CA387743177 | BRCA2 | c.7466A>C (p.Asp2489Ala) c.7097A>C (p.Asp2366Ala) c.31A>C n.7466A>C c.7370A>C (p.Asp2457Ala) | |
13 | g.32356458A>G | CA025100 | BRCA2 | c.7466A>G (p.Asp2489Gly) c.7097A>G (p.Asp2366Gly) c.31A>G n.7466A>G c.7370A>G (p.Asp2457Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356458A>T | CA387743183 | BRCA2 | c.7466A>T (p.Asp2489Val) c.7097A>T (p.Asp2366Val) c.31A>T n.7466A>T c.7370A>T (p.Asp2457Val) | dbSNP |
13 | g.32356459T>A | CA387743188 | BRCA2 | c.7467T>A (p.Asp2489Glu) c.7098T>A (p.Asp2366Glu) c.32T>A n.7467T>A c.7371T>A (p.Asp2457Glu) | dbSNP |
13 | g.32356459T>C | CA483260367 | BRCA2 | c.7467T>C (p.Asp2489=) c.7098T>C (p.Asp2366=) c.32T>C n.7467T>C c.7371T>C (p.Asp2457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356459T>G | CA387743191 | BRCA2 | c.7467T>G (p.Asp2489Glu) c.7098T>G (p.Asp2366Glu) c.32T>G n.7467T>G c.7371T>G (p.Asp2457Glu) | ClinVar dbSNP |
13 | g.32356459T= | CA2082814204 | BRCA2 | c.7467T= (p.Asp2489=) c.7098T= (p.Asp2366=) c.32T= n.7467T= c.7371T= (p.Asp2457=) | |
13 | g.32356459dup | CA025102 | BRCA2 | c.7467dup (p.Ile2490TyrfsTer7) c.7098dup (p.Ile2367TyrfsTer7) c.32dup n.7467dup c.7371dup (p.Ile2458TyrfsTer7) | ClinVar dbSNP |
13 | g.32356460A= | CA2082814213 | BRCA2 | c.7468A= (p.Ile2490=) c.7099A= (p.Ile2367=) c.33A= n.7468A= c.7372A= (p.Ile2458=) | |
13 | g.32356460A>C | CA387743196 | BRCA2 | c.7468A>C (p.Ile2490Leu) c.7099A>C (p.Ile2367Leu) c.33A>C n.7468A>C c.7372A>C (p.Ile2458Leu) | |
13 | g.32356460A>G | CA387743199 | BRCA2 | c.7468A>G (p.Ile2490Val) c.7099A>G (p.Ile2367Val) c.33A>G n.7468A>G c.7372A>G (p.Ile2458Val) | ClinVar dbSNP |
13 | g.32356460A>T | CA387743200 | BRCA2 | c.7468A>T (p.Ile2490Leu) c.7099A>T (p.Ile2367Leu) c.33A>T n.7468A>T c.7372A>T (p.Ile2458Leu) | dbSNP |
13 | g.32356460_32356461delinsAT | CA2082814212 | BRCA2 | c.7468_7469delinsAT (p.Ile2490=) c.7099_7100delinsAT (p.Ile2367=) c.33_34delinsAT n.7468_7469delinsAT c.7372_7373delinsAT (p.Ile2458=) | |
13 | g.32356461del | CA10589429 | BRCA2 | c.7469del (p.Ile2490AsnfsTer?) c.7100del (p.Ile2367AsnfsTer?) c.34del n.7469del c.7373del (p.Ile2458AsnfsTer?) | ClinVar dbSNP |
13 | g.32356461T>A | CA387743202 | BRCA2 | c.7469T>A (p.Ile2490Lys) c.7100T>A (p.Ile2367Lys) c.34T>A n.7469T>A c.7373T>A (p.Ile2458Lys) | dbSNP |
13 | g.32356461T>C | CA025105 | BRCA2 | c.7469T>C (p.Ile2490Thr) c.7100T>C (p.Ile2367Thr) c.34T>C n.7469T>C c.7373T>C (p.Ile2458Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356461T>G | CA387743205 | BRCA2 | c.7469T>G (p.Ile2490Arg) c.7100T>G (p.Ile2367Arg) c.34T>G n.7469T>G c.7373T>G (p.Ile2458Arg) | |
13 | g.32356461T= | CA2082814227 | BRCA2 | c.7469T= (p.Ile2490=) c.7100T= (p.Ile2367=) c.34T= n.7469T= c.7373T= (p.Ile2458=) | |
13 | g.32356461dup | CA025104 | BRCA2 | c.7469dup (p.Gln2491ThrfsTer6) c.7100dup (p.Gln2368ThrfsTer6) c.34dup n.7469dup c.7373dup (p.Gln2459ThrfsTer6) | ClinVar dbSNP |
13 | g.32356462A= | CA2082814239 | BRCA2 | c.7470A= (p.Ile2490=) c.7101A= (p.Ile2367=) c.35A= n.7470A= c.7374A= (p.Ile2458=) | |
13 | g.32356462A>C | CA483260368 | BRCA2 | c.7470A>C (p.Ile2490=) c.7101A>C (p.Ile2367=) c.35A>C n.7470A>C c.7374A>C (p.Ile2458=) | |
13 | g.32356462A>G | CA16606809 | BRCA2 | c.7470A>G (p.Ile2490Met) c.7101A>G (p.Ile2367Met) c.35A>G n.7470A>G c.7374A>G (p.Ile2458Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32356462A>T | CA483260369 | BRCA2 | c.7470A>T (p.Ile2490=) c.7101A>T (p.Ile2367=) c.35A>T n.7470A>T c.7374A>T (p.Ile2458=) | dbSNP |
13 | g.32356462_32356463delinsAC | CA2082814238 | BRCA2 | c.7470_7471delinsAC (p.Ile2490=) c.7101_7102delinsAC (p.Ile2367=) c.35_36delinsAC n.7470_7471delinsAC c.7374_7375delinsAC (p.Ile2458=) | |
13 | g.32356463del | CA10586576 | BRCA2 | c.7471del (p.Gln2491ArgfsTer?) c.7102del (p.Gln2368ArgfsTer?) c.36del n.7471del c.7375del (p.Gln2459ArgfsTer?) | ClinVar dbSNP |
13 | g.32356463C>A | CA387743221 | BRCA2 | c.7471C>A (p.Gln2491Lys) c.7102C>A (p.Gln2368Lys) c.36C>A n.7471C>A c.7375C>A (p.Gln2459Lys) | dbSNP |
13 | g.32356463C= | CA2082814252 | BRCA2 | c.7471C= (p.Gln2491=) c.7102C= (p.Gln2368=) c.36C= n.7471C= c.7375C= (p.Gln2459=) | |
13 | g.32356463C>G | CA387743224 | BRCA2 | c.7471C>G (p.Gln2491Glu) c.7102C>G (p.Gln2368Glu) c.36C>G n.7471C>G c.7375C>G (p.Gln2459Glu) | dbSNP |
13 | g.32356463C>T | CA025106 | BRCA2 | c.7471C>T (p.Gln2491Ter) c.7102C>T (p.Gln2368Ter) c.36C>T n.7471C>T c.7375C>T (p.Gln2459Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356464A= | CA2082814263 | BRCA2 | c.7472A= (p.Gln2491=) c.7103A= (p.Gln2368=) c.37A= n.7472A= c.7376A= (p.Gln2459=) | |
13 | g.32356464A>C | CA387743228 | BRCA2 | c.7472A>C (p.Gln2491Pro) c.7103A>C (p.Gln2368Pro) c.37A>C n.7472A>C c.7376A>C (p.Gln2459Pro) | |
13 | g.32356464A>G | CA247469683 | BRCA2 | c.7472A>G (p.Gln2491Arg) c.7103A>G (p.Gln2368Arg) c.37A>G n.7472A>G c.7376A>G (p.Gln2459Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356464A>T | CA387743232 | BRCA2 | c.7472A>T (p.Gln2491Leu) c.7103A>T (p.Gln2368Leu) c.37A>T n.7472A>T c.7376A>T (p.Gln2459Leu) | ClinVar dbSNP |
13 | g.32356465G>A | CA483260370 | BRCA2 | c.7473G>A (p.Gln2491=) c.7104G>A (p.Gln2368=) c.38G>A n.7473G>A c.7377G>A (p.Gln2459=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356465G>C | CA387743234 | BRCA2 | c.7473G>C (p.Gln2491His) c.7104G>C (p.Gln2368His) c.38G>C n.7473G>C c.7377G>C (p.Gln2459His) | ClinVar dbSNP |
13 | g.32356465G>T | CA387743236 | BRCA2 | c.7473G>T (p.Gln2491His) c.7104G>T (p.Gln2368His) c.38G>T n.7473G>T c.7377G>T (p.Gln2459His) | dbSNP |
13 | g.32356465_32356467delinsGGA | CA2082814270 | BRCA2 | c.7473_7475delinsGGA (p.Gln2491=) c.7104_7106delinsGGA (p.Gln2368=) c.38_40delinsGGA n.7473_7475delinsGGA c.7377_7379delinsGGA (p.Gln2459=) | |
13 | g.32356466G>A | CA387743238 | BRCA2 | c.7474G>A (p.Asp2492Asn) c.7105G>A (p.Asp2369Asn) c.39G>A n.7474G>A c.7378G>A (p.Asp2460Asn) | dbSNP |
13 | g.32356466G>C | CA387743240 | BRCA2 | c.7474G>C (p.Asp2492His) c.7105G>C (p.Asp2369His) c.39G>C n.7474G>C c.7378G>C (p.Asp2460His) | dbSNP |
13 | g.32356466G>T | CA387743245 | BRCA2 | c.7474G>T (p.Asp2492Tyr) c.7105G>T (p.Asp2369Tyr) c.39G>T n.7474G>T c.7378G>T (p.Asp2460Tyr) | |
13 | g.32356466_32356467del | CA025107 | BRCA2 | c.7474_7475del (p.Asp2492TyrfsTer4) c.7105_7106del (p.Asp2369TyrfsTer4) c.39_40del n.7474_7475del c.7378_7379del (p.Asp2460TyrfsTer4) | ClinVar dbSNP |
13 | g.32356467A>C | CA387743249 | BRCA2 | c.7475A>C (p.Asp2492Ala) c.7106A>C (p.Asp2369Ala) c.40A>C n.7475A>C c.7379A>C (p.Asp2460Ala) | |
13 | g.32356467A>G | CA387743250 | BRCA2 | c.7475A>G (p.Asp2492Gly) c.7106A>G (p.Asp2369Gly) c.40A>G n.7475A>G c.7379A>G (p.Asp2460Gly) | |
13 | g.32356467A>T | CA387743248 | BRCA2 | c.7475A>T (p.Asp2492Val) c.7106A>T (p.Asp2369Val) c.40A>T n.7475A>T c.7379A>T (p.Asp2460Val) | |
13 | g.32356468T>A | CA387743251 | BRCA2 | c.7476T>A (p.Asp2492Glu) c.7107T>A (p.Asp2369Glu) c.41T>A n.7476T>A c.7380T>A (p.Asp2460Glu) | dbSNP |
13 | g.32356468T>C | CA483260371 | BRCA2 | c.7476T>C (p.Asp2492=) c.7107T>C (p.Asp2369=) c.41T>C n.7476T>C c.7380T>C (p.Asp2460=) | ClinVar gnomAD v4 |
13 | g.32356468T>G | CA387743253 | BRCA2 | c.7476T>G (p.Asp2492Glu) c.7107T>G (p.Asp2369Glu) c.41T>G n.7476T>G c.7380T>G (p.Asp2460Glu) | dbSNP |
13 | g.32356469A= | CA2082814287 | BRCA2 | c.7477A= (p.Met2493=) c.7108A= (p.Met2370=) c.42A= n.7477A= c.7381A= (p.Met2461=) | |
13 | g.32356469A>C | CA387743256 | BRCA2 | c.7477A>C (p.Met2493Leu) c.7108A>C (p.Met2370Leu) c.42A>C n.7477A>C c.7381A>C (p.Met2461Leu) | |
13 | g.32356469A>G | CA16619763 | BRCA2 | c.7477A>G (p.Met2493Val) c.7108A>G (p.Met2370Val) c.42A>G n.7477A>G c.7381A>G (p.Met2461Val) | ClinVar dbSNP |
13 | g.32356469A>T | CA387743260 | BRCA2 | c.7477A>T (p.Met2493Leu) c.7108A>T (p.Met2370Leu) c.42A>T n.7477A>T c.7381A>T (p.Met2461Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>A | CA387743264 | BRCA2 | c.7478T>A (p.Met2493Lys) c.7109T>A (p.Met2370Lys) c.43T>A n.7478T>A c.7382T>A (p.Met2461Lys) | dbSNP |
13 | g.32356470T>C | CA336705 | BRCA2 | c.7478T>C (p.Met2493Thr) c.7109T>C (p.Met2370Thr) c.43T>C n.7478T>C c.7382T>C (p.Met2461Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>G | CA10583131 | BRCA2 | c.7478T>G (p.Met2493Arg) c.7109T>G (p.Met2370Arg) c.43T>G n.7478T>G c.7382T>G (p.Met2461Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356470T= | CA2082814304 | BRCA2 | c.7478T= (p.Met2493=) c.7109T= (p.Met2370=) c.43T= n.7478T= c.7382T= (p.Met2461=) | |
13 | g.32356471G>A | CA10577491 | BRCA2 | c.7479G>A (p.Met2493Ile) c.7110G>A (p.Met2370Ile) c.44G>A n.7479G>A c.7383G>A (p.Met2461Ile) | ClinVar dbSNP |
13 | g.32356471G>C | CA387743268 | BRCA2 | c.7479G>C (p.Met2493Ile) c.7110G>C (p.Met2370Ile) c.44G>C n.7479G>C c.7383G>C (p.Met2461Ile) | dbSNP |
13 | g.32356471G= | CA2082814315 | BRCA2 | c.7479G= (p.Met2493=) c.7110G= (p.Met2370=) c.44G= n.7479G= c.7383G= (p.Met2461=) | |
13 | g.32356471G>T | CA387743271 | BRCA2 | c.7479G>T (p.Met2493Ile) c.7110G>T (p.Met2370Ile) c.44G>T n.7479G>T c.7383G>T (p.Met2461Ile) | |
13 | g.32356472C>A | CA6941103 | BRCA2 | c.7480C>A (p.Arg2494=) c.7111C>A (p.Arg2371=) c.45C>A n.7480C>A c.7384C>A (p.Arg2462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356472C= | CA2082814341 | BRCA2 | c.7480C= (p.Arg2494=) c.7111C= (p.Arg2371=) c.45C= n.7480C= c.7384C= (p.Arg2462=) | |
13 | g.32356472C>G | CA387743274 | BRCA2 | c.7480C>G (p.Arg2494Gly) c.7111C>G (p.Arg2371Gly) c.45C>G n.7480C>G c.7384C>G (p.Arg2462Gly) | |
13 | g.32356472C>T | CA025108 | BRCA2 | c.7480C>T (p.Arg2494Ter) c.7111C>T (p.Arg2371Ter) c.45C>T n.7480C>T c.7384C>T (p.Arg2462Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356473G>A | CA025110 | BRCA2 | c.7481G>A (p.Arg2494Gln) c.7112G>A (p.Arg2371Gln) c.46G>A n.7481G>A c.7385G>A (p.Arg2462Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32356473G>C | CA387743276 | BRCA2 | c.7481G>C (p.Arg2494Pro) c.7112G>C (p.Arg2371Pro) c.46G>C n.7481G>C c.7385G>C (p.Arg2462Pro) | dbSNP |
13 | g.32356473G= | CA2082814345 | BRCA2 | c.7481G= (p.Arg2494=) c.7112G= (p.Arg2371=) c.46G= n.7481G= c.7385G= (p.Arg2462=) | |
13 | g.32356473G>T | CA387743275 | BRCA2 | c.7481G>T (p.Arg2494Leu) c.7112G>T (p.Arg2371Leu) c.46G>T n.7481G>T c.7385G>T (p.Arg2462Leu) | dbSNP |
13 | g.32356474A= | CA2082814350 | BRCA2 | c.7482A= (p.Arg2494=) c.7113A= (p.Arg2371=) c.47A= n.7482A= c.7386A= (p.Arg2462=) | |
13 | g.32356474A>C | CA483260372 | BRCA2 | c.7482A>C (p.Arg2494=) c.7113A>C (p.Arg2371=) c.47A>C n.7482A>C c.7386A>C (p.Arg2462=) | |
13 | g.32356474A>G | CA483260373 | BRCA2 | c.7482A>G (p.Arg2494=) c.7113A>G (p.Arg2371=) c.47A>G n.7482A>G c.7386A>G (p.Arg2462=) | |
13 | g.32356474A>T | CA483260374 | BRCA2 | c.7482A>T (p.Arg2494=) c.7113A>T (p.Arg2371=) c.47A>T n.7482A>T c.7386A>T (p.Arg2462=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356474_32356475insCC | CA2499222289 | BRCA2 | c.7482_7483insCC (p.Ile2495ProfsTer30) c.7113_7114insCC (p.Ile2372ProfsTer30) c.47_48insCC n.7482_7483insCC c.7386_7387insCC (p.Ile2463ProfsTer30) | |
13 | g.32356475A= | CA2082814357 | BRCA2 | c.7483A= (p.Ile2495=) c.7114A= (p.Ile2372=) c.48A= n.7483A= c.7387A= (p.Ile2463=) | |
13 | g.32356475A>C | CA387743279 | BRCA2 | c.7483A>C (p.Ile2495Leu) c.7114A>C (p.Ile2372Leu) c.48A>C n.7483A>C c.7387A>C (p.Ile2463Leu) | dbSNP |
13 | g.32356475A>G | CA247469723 | BRCA2 | c.7483A>G (p.Ile2495Val) c.7114A>G (p.Ile2372Val) c.48A>G n.7483A>G c.7387A>G (p.Ile2463Val) | dbSNP |
13 | g.32356475A>T | CA387743300 | BRCA2 | c.7483A>T (p.Ile2495Phe) c.7114A>T (p.Ile2372Phe) c.48A>T n.7483A>T c.7387A>T (p.Ile2463Phe) | dbSNP |
13 | g.32356475_32356476delinsAT | CA2082814354 | BRCA2 | c.7483_7484delinsAT (p.Ile2495=) c.7114_7115delinsAT (p.Ile2372=) c.48_49delinsAT n.7483_7484delinsAT c.7387_7388delinsAT (p.Ile2463=) | |
13 | g.32356476T>A | CA387743306 | BRCA2 | c.7484T>A (p.Ile2495Asn) c.7115T>A (p.Ile2372Asn) c.49T>A n.7484T>A c.7388T>A (p.Ile2463Asn) | dbSNP |
13 | g.32356476T>C | CA025112 | BRCA2 | c.7484T>C (p.Ile2495Thr) c.7115T>C (p.Ile2372Thr) c.49T>C n.7484T>C c.7388T>C (p.Ile2463Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356476T>G | CA387743314 | BRCA2 | c.7484T>G (p.Ile2495Ser) c.7115T>G (p.Ile2372Ser) c.49T>G n.7484T>G c.7388T>G (p.Ile2463Ser) | dbSNP |
13 | g.32356476T= | CA2082814366 | BRCA2 | c.7484T= (p.Ile2495=) c.7115T= (p.Ile2372=) c.49T= n.7484T= c.7388T= (p.Ile2463=) | |
13 | g.32356477dup | CA10589430 | BRCA2 | c.7485dup (p.Lys2496Ter) c.7116dup (p.Lys2373Ter) c.50dup n.7485dup c.7389dup (p.Lys2464Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356477del | CA10586577 | BRCA2 | c.7485del (p.Lys2496ArgfsTer28) c.7116del (p.Lys2373ArgfsTer28) c.50del n.7485del c.7389del (p.Lys2464ArgfsTer28) | ClinVar dbSNP |
13 | g.32356476_32356477insA | CA658823746 | BRCA2 | c.7484_7485insA (p.Lys2496Ter) c.7115_7116insA (p.Lys2373Ter) c.49_50insA n.7484_7485insA c.7388_7389insA (p.Lys2464Ter) | ClinVar dbSNP |
13 | g.32356477T>A | CA483260375 | BRCA2 | c.7485T>A (p.Ile2495=) c.7116T>A (p.Ile2372=) c.50T>A n.7485T>A c.7389T>A (p.Ile2463=) | |
13 | g.32356477T>C | CA483260376 | BRCA2 | c.7485T>C (p.Ile2495=) c.7116T>C (p.Ile2372=) c.50T>C n.7485T>C c.7389T>C (p.Ile2463=) | |
13 | g.32356477T>G | CA387743317 | BRCA2 | c.7485T>G (p.Ile2495Met) c.7116T>G (p.Ile2372Met) c.50T>G n.7485T>G c.7389T>G (p.Ile2463Met) | ClinVar dbSNP |
13 | g.32356477T= | CA2082814381 | BRCA2 | c.7485T= (p.Ile2495=) c.7116T= (p.Ile2372=) c.50T= n.7485T= c.7389T= (p.Ile2463=) | |
13 | g.32356477_32356480delinsTAAG | CA2082814379 | BRCA2 | c.7485_7488delinsTAAG (p.Ile2495=) c.7116_7119delinsTAAG (p.Ile2372=) c.50_53delinsTAAG n.7485_7488delinsTAAG c.7389_7392delinsTAAG (p.Ile2463=) | |
13 | g.32356478A= | CA2082814390 | BRCA2 | c.7486A= (p.Lys2496=) c.7117A= (p.Lys2373=) c.51A= n.7486A= c.7390A= (p.Lys2464=) | |
13 | g.32356478A>C | CA387743320 | BRCA2 | c.7486A>C (p.Lys2496Gln) c.7117A>C (p.Lys2373Gln) c.51A>C n.7486A>C c.7390A>C (p.Lys2464Gln) | |
13 | g.32356478A>G | CA387743323 | BRCA2 | c.7486A>G (p.Lys2496Glu) c.7117A>G (p.Lys2373Glu) c.51A>G n.7486A>G c.7390A>G (p.Lys2464Glu) | |
13 | g.32356478A>T | CA387743332 | BRCA2 | c.7486A>T (p.Lys2496Ter) c.7117A>T (p.Lys2373Ter) c.51A>T n.7486A>T c.7390A>T (p.Lys2464Ter) | dbSNP |
13 | g.32356479dup | CA645372939 | BRCA2 | c.7487dup (p.Lys2497GlufsTer?) c.7118dup (p.Lys2374GlufsTer?) c.52dup n.7487dup c.7391dup (p.Lys2465GlufsTer?) | ClinVar dbSNP |
13 | g.32356483_32356485del | CA025115 | BRCA2 | c.7491_7493del (p.Lys2498del) c.7122_7124del (p.Lys2375del) c.56_58del n.7491_7493del c.7395_7397del (p.Lys2466del) | ClinVar dbSNP gnomAD v4 |
13 | g.32356478_32356499dup | CA2580087467 | BRCA2 | c.7486_7507dup (p.Val2503GlufsTer?) c.7117_7138dup (p.Val2380GlufsTer?) c.51_72dup n.7486_7507dup c.7390_7411dup (p.Val2471GlufsTer?) | ClinVar |
13 | g.32356478_32356479insT | CA10586578 | BRCA2 | c.7486_7487insT (p.Lys2496IlefsTer?) c.7117_7118insT (p.Lys2373IlefsTer?) c.51_52insT n.7486_7487insT c.7390_7391insT (p.Lys2464IlefsTer?) | ClinVar dbSNP |
13 | g.32356479A= | CA2082814397 | BRCA2 | c.7487A= (p.Lys2496=) c.7118A= (p.Lys2373=) c.52A= n.7487A= c.7391A= (p.Lys2464=) | |
13 | g.32356479A>C | CA025113 | BRCA2 | c.7487A>C (p.Lys2496Thr) c.7118A>C (p.Lys2373Thr) c.52A>C n.7487A>C c.7391A>C (p.Lys2464Thr) | ClinVar dbSNP |
13 | g.32356479A>G | CA387743336 | BRCA2 | c.7487A>G (p.Lys2496Arg) c.7118A>G (p.Lys2373Arg) c.52A>G n.7487A>G c.7391A>G (p.Lys2464Arg) | |
13 | g.32356479A>T | CA387743335 | BRCA2 | c.7487A>T (p.Lys2496Met) c.7118A>T (p.Lys2373Met) c.52A>T n.7487A>T c.7391A>T (p.Lys2464Met) | dbSNP |
13 | g.32356480del | CA2499222290 | BRCA2 | c.7488del (p.Lys2497ArgfsTer27) c.7119del (p.Lys2374ArgfsTer27) c.53del n.7488del c.7392del (p.Lys2465ArgfsTer27) | ClinVar dbSNP |
13 | g.32356480G>A | CA483260377 | BRCA2 | c.7488G>A (p.Lys2496=) c.7119G>A (p.Lys2373=) c.53G>A n.7488G>A c.7392G>A (p.Lys2464=) | dbSNP |
13 | g.32356480G>C | CA6941104 | BRCA2 | c.7488G>C (p.Lys2496Asn) c.7119G>C (p.Lys2373Asn) c.53G>C n.7488G>C c.7392G>C (p.Lys2464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356480G= | CA2082814412 | BRCA2 | c.7488G= (p.Lys2496=) c.7119G= (p.Lys2373=) c.53G= n.7488G= c.7392G= (p.Lys2464=) | |
13 | g.32356480G>T | CA387743340 | BRCA2 | c.7488G>T (p.Lys2496Asn) c.7119G>T (p.Lys2373Asn) c.53G>T n.7488G>T c.7392G>T (p.Lys2464Asn) | dbSNP |
13 | g.32356481A>C | CA387743341 | BRCA2 | c.7489A>C (p.Lys2497Gln) c.7120A>C (p.Lys2374Gln) c.54A>C n.7489A>C c.7393A>C (p.Lys2465Gln) | dbSNP |
13 | g.32356481A>G | CA387743342 | BRCA2 | c.7489A>G (p.Lys2497Glu) c.7120A>G (p.Lys2374Glu) c.54A>G n.7489A>G c.7393A>G (p.Lys2465Glu) | |
13 | g.32356481A>T | CA387743343 | BRCA2 | c.7489A>T (p.Lys2497Ter) c.7120A>T (p.Lys2374Ter) c.54A>T n.7489A>T c.7393A>T (p.Lys2465Ter) | |
13 | g.32356482dup | CA919242751 | BRCA2 | c.7490dup (p.Lys2498GlufsTer?) c.7121dup (p.Lys2375GlufsTer?) c.55dup n.7490dup c.7394dup (p.Lys2466GlufsTer?) | dbSNP |
13 | g.32356483_32356486del | CA2622571560 | BRCA2 | c.7491_7494del (p.Lys2497AsnfsTer26) c.7122_7125del (p.Lys2374AsnfsTer26) c.56_59del n.7491_7494del c.7395_7398del (p.Lys2465AsnfsTer26) | gnomAD v4 |
13 | g.32356482A= | CA2082814423 | BRCA2 | c.7490A= (p.Lys2497=) c.7121A= (p.Lys2374=) c.55A= n.7490A= c.7394A= (p.Lys2465=) | |
13 | g.32356482A>C | CA387743344 | BRCA2 | c.7490A>C (p.Lys2497Thr) c.7121A>C (p.Lys2374Thr) c.55A>C n.7490A>C c.7394A>C (p.Lys2465Thr) | ClinVar dbSNP |
13 | g.32356482A>G | CA387743345 | BRCA2 | c.7490A>G (p.Lys2497Arg) c.7121A>G (p.Lys2374Arg) c.55A>G n.7490A>G c.7394A>G (p.Lys2465Arg) | ClinVar dbSNP |
13 | g.32356482A>T | CA387743347 | BRCA2 | c.7490A>T (p.Lys2497Met) c.7121A>T (p.Lys2374Met) c.55A>T n.7490A>T c.7394A>T (p.Lys2465Met) | |
13 | g.32356483G>A | CA025116 | BRCA2 | c.7491G>A (p.Lys2497=) c.7122G>A (p.Lys2374=) c.56G>A n.7491G>A c.7395G>A (p.Lys2465=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356483G>C | CA387743353 | BRCA2 | c.7491G>C (p.Lys2497Asn) c.7122G>C (p.Lys2374Asn) c.56G>C n.7491G>C c.7395G>C (p.Lys2465Asn) | dbSNP |
13 | g.32356483G= | CA2082814433 | BRCA2 | c.7491G= (p.Lys2497=) c.7122G= (p.Lys2374=) c.56G= n.7491G= c.7395G= (p.Lys2465=) | |
13 | g.32356483G>T | CA387743351 | BRCA2 | c.7491G>T (p.Lys2497Asn) c.7122G>T (p.Lys2374Asn) c.56G>T n.7491G>T c.7395G>T (p.Lys2465Asn) | |
13 | g.32356484A>C | CA387743359 | BRCA2 | c.7492A>C (p.Lys2498Gln) c.7123A>C (p.Lys2375Gln) c.57A>C n.7492A>C c.7396A>C (p.Lys2466Gln) | |
13 | g.32356484A>G | CA387743360 | BRCA2 | c.7492A>G (p.Lys2498Glu) c.7123A>G (p.Lys2375Glu) c.57A>G n.7492A>G c.7396A>G (p.Lys2466Glu) | |
13 | g.32356484A>T | CA387743363 | BRCA2 | c.7492A>T (p.Lys2498Ter) c.7123A>T (p.Lys2375Ter) c.57A>T n.7492A>T c.7396A>T (p.Lys2466Ter) | ClinVar |
13 | g.32356485A= | CA2082814440 | BRCA2 | c.7493A= (p.Lys2498=) c.7124A= (p.Lys2375=) c.58A= n.7493A= c.7397A= (p.Lys2466=) | |
13 | g.32356485A>C | CA025117 | BRCA2 | c.7493A>C (p.Lys2498Thr) c.7124A>C (p.Lys2375Thr) c.58A>C n.7493A>C c.7397A>C (p.Lys2466Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356485A>G | CA387743368 | BRCA2 | c.7493A>G (p.Lys2498Arg) c.7124A>G (p.Lys2375Arg) c.58A>G n.7493A>G c.7397A>G (p.Lys2466Arg) | dbSNP |
13 | g.32356485A>T | CA387743366 | BRCA2 | c.7493A>T (p.Lys2498Ile) c.7124A>T (p.Lys2375Ile) c.58A>T n.7493A>T c.7397A>T (p.Lys2466Ile) | |
13 | g.32356486A= | CA2082814454 | BRCA2 | c.7494A= (p.Lys2498=) c.7125A= (p.Lys2375=) c.59A= n.7494A= c.7398A= (p.Lys2466=) | |
13 | g.32356486A>C | CA387743370 | BRCA2 | c.7494A>C (p.Lys2498Asn) c.7125A>C (p.Lys2375Asn) c.59A>C n.7494A>C c.7398A>C (p.Lys2466Asn) | |
13 | g.32356486A>G | CA483260378 | BRCA2 | c.7494A>G (p.Lys2498=) c.7125A>G (p.Lys2375=) c.59A>G n.7494A>G c.7398A>G (p.Lys2466=) | ClinVar dbSNP |
13 | g.32356486A>T | CA387743375 | BRCA2 | c.7494A>T (p.Lys2498Asn) c.7125A>T (p.Lys2375Asn) c.59A>T n.7494A>T c.7398A>T (p.Lys2466Asn) | dbSNP |
13 | g.32356487_32356488del | CA2697551777 | BRCA2 | c.7495_7496del (p.Gln2499LysfsTer?) c.7126_7127del (p.Gln2376LysfsTer?) c.60_61del n.7495_7496del c.7399_7400del (p.Gln2467LysfsTer?) | ClinVar |
13 | g.32356487del | CA2499222291 | BRCA2 | c.7495del (p.Gln2499LysfsTer25) c.7126del (p.Gln2376LysfsTer25) c.60del n.7495del c.7399del (p.Gln2467LysfsTer25) | ClinVar dbSNP |
13 | g.32356487C>A | CA387743376 | BRCA2 | c.7495C>A (p.Gln2499Lys) c.7126C>A (p.Gln2376Lys) c.60C>A n.7495C>A c.7399C>A (p.Gln2467Lys) | gnomAD v4 |
13 | g.32356487C= | CA2082814467 | BRCA2 | c.7495C= (p.Gln2499=) c.7126C= (p.Gln2376=) c.60C= n.7495C= c.7399C= (p.Gln2467=) | |
13 | g.32356487C>G | CA10579739 | BRCA2 | c.7495C>G (p.Gln2499Glu) c.7126C>G (p.Gln2376Glu) c.60C>G n.7495C>G c.7399C>G (p.Gln2467Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356487C>T | CA10589431 | BRCA2 | c.7495C>T (p.Gln2499Ter) c.7126C>T (p.Gln2376Ter) c.60C>T n.7495C>T c.7399C>T (p.Gln2467Ter) | ClinVar dbSNP |
13 | g.32356487_32356488delinsCA | CA2082814464 | BRCA2 | c.7495_7496delinsCA (p.Gln2499=) c.7126_7127delinsCA (p.Gln2376=) c.60_61delinsCA n.7495_7496delinsCA c.7399_7400delinsCA (p.Gln2467=) | |
13 | g.32356488A>C | CA387743382 | BRCA2 | c.7496A>C (p.Gln2499Pro) c.7127A>C (p.Gln2376Pro) c.61A>C n.7496A>C c.7400A>C (p.Gln2467Pro) | |
13 | g.32356488A>G | CA387743383 | BRCA2 | c.7496A>G (p.Gln2499Arg) c.7127A>G (p.Gln2376Arg) c.61A>G n.7496A>G c.7400A>G (p.Gln2467Arg) | |
13 | g.32356488A>T | CA387743384 | BRCA2 | c.7496A>T (p.Gln2499Leu) c.7127A>T (p.Gln2376Leu) c.61A>T n.7496A>T c.7400A>T (p.Gln2467Leu) | dbSNP |
13 | g.32356490del | CA919242752 | BRCA2 | c.7498del (p.Arg2500GlyfsTer24) c.7129del (p.Arg2377GlyfsTer24) c.63del n.7498del c.7402del (p.Arg2468GlyfsTer24) | dbSNP |
13 | g.32356489A= | CA2082814478 | BRCA2 | c.7497A= (p.Gln2499=) c.7128A= (p.Gln2376=) c.62A= n.7497A= c.7401A= (p.Gln2467=) | |
13 | g.32356489A>C | CA387743386 | BRCA2 | c.7497A>C (p.Gln2499His) c.7128A>C (p.Gln2376His) c.62A>C n.7497A>C c.7401A>C (p.Gln2467His) | |
13 | g.32356489A>G | CA483260379 | BRCA2 | c.7497A>G (p.Gln2499=) c.7128A>G (p.Gln2376=) c.62A>G n.7497A>G c.7401A>G (p.Gln2467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356489A>T | CA387743387 | BRCA2 | c.7497A>T (p.Gln2499His) c.7128A>T (p.Gln2376His) c.62A>T n.7497A>T c.7401A>T (p.Gln2467His) | dbSNP |
13 | g.32356490A>C | CA483260380 | BRCA2 | c.7498A>C (p.Arg2500=) c.7129A>C (p.Arg2377=) c.63A>C n.7498A>C c.7402A>C (p.Arg2468=) | |
13 | g.32356490A>G | CA387743389 | BRCA2 | c.7498A>G (p.Arg2500Gly) c.7129A>G (p.Arg2377Gly) c.63A>G n.7498A>G c.7402A>G (p.Arg2468Gly) | dbSNP |
13 | g.32356490A>T | CA387743391 | BRCA2 | c.7498A>T (p.Arg2500Trp) c.7129A>T (p.Arg2377Trp) c.63A>T n.7498A>T c.7402A>T (p.Arg2468Trp) | dbSNP |
13 | g.32356490_32356491delinsAG | CA2082814482 | BRCA2 | c.7498_7499delinsAG (p.Arg2500=) c.7129_7130delinsAG (p.Arg2377=) c.63_64delinsAG n.7498_7499delinsAG c.7402_7403delinsAG (p.Arg2468=) | |
13 | g.32356491G>A | CA025118 | BRCA2 | c.7499G>A (p.Arg2500Lys) c.7130G>A (p.Arg2377Lys) c.64G>A n.7499G>A c.7403G>A (p.Arg2468Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32356491G>C | CA025119 | BRCA2 | c.7499G>C (p.Arg2500Thr) c.7130G>C (p.Arg2377Thr) c.64G>C n.7499G>C c.7403G>C (p.Arg2468Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356491G= | CA2082814490 | BRCA2 | c.7499G= (p.Arg2500=) c.7130G= (p.Arg2377=) c.64G= n.7499G= c.7403G= (p.Arg2468=) | |
13 | g.32356491G>T | CA387743393 | BRCA2 | c.7499G>T (p.Arg2500Met) c.7130G>T (p.Arg2377Met) c.64G>T n.7499G>T c.7403G>T (p.Arg2468Met) | dbSNP |
13 | g.32356492del | CA913188525 | BRCA2 | c.7500del (p.Arg2500SerfsTer24) c.7131del (p.Arg2377SerfsTer24) c.65del n.7500del c.7404del (p.Arg2468SerfsTer24) | ClinVar dbSNP |
13 | g.32356492G>A | CA483260381 | BRCA2 | c.7500G>A (p.Arg2500=) c.7131G>A (p.Arg2377=) c.65G>A n.7500G>A c.7404G>A (p.Arg2468=) | ClinVar dbSNP |
13 | g.32356492G>C | CA387743402 | BRCA2 | c.7500G>C (p.Arg2500Ser) c.7131G>C (p.Arg2377Ser) c.65G>C n.7500G>C c.7404G>C (p.Arg2468Ser) | ClinVar dbSNP |
13 | g.32356492G= | CA2082814496 | BRCA2 | c.7500G= (p.Arg2500=) c.7131G= (p.Arg2377=) c.65G= n.7500G= c.7404G= (p.Arg2468=) | |
13 | g.32356492G>T | CA387743403 | BRCA2 | c.7500G>T (p.Arg2500Ser) c.7131G>T (p.Arg2377Ser) c.65G>T n.7500G>T c.7404G>T (p.Arg2468Ser) | |
13 | g.32356492_32356493del | CA2695199716 | BRCA2 | c.7500_7501del (p.Gln2501ThrfsTer?) c.7131_7132del (p.Gln2378ThrfsTer?) c.65_66del n.7500_7501del c.7404_7405del (p.Gln2469ThrfsTer?) | ClinVar |