| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32324894_32328983dup | CA2580086925 | BRCA2 | c.317-182_632-460dup c.-53-182_263-460dup c.*95+68_*411-460dup n.515-182_830-460dup n.317-182_632-460dup | ClinVar |
| 13 | g.32326101_32326613del | CA2581463424 | BRCA2 | c.426_631del c.57_262del n.297_502del c.*205_*410del n.624_829del n.426_631del | |
| 13 | g.32326471_32326622del | CA2695217875 | BRCA2 | c.517-28_631+9del c.148-28_262+9del n.388-28_511del c.*296-28_*410+9del n.715-28_829+9del n.517-28_631+9del | |
| 13 | g.32326470_32326501del | CA2499222043 | BRCA2 | c.517-29_519del c.148-29_150del n.388-29_390del c.*296-29_*298del n.715-29_717del n.517-29_519del | ClinVar dbSNP |
| 13 | g.32326496del | CA6940394 | BRCA2 | c.517-3del (n.517-3del) c.148-3del (n.148-3del) n.388-3del c.*296-3del (n.*296-3del) n.715-3del n.517-3del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32326496C= | CA2082751595 | BRCA2 | c.517-3C= (n.517-3C=) c.148-3C= (n.148-3C=) n.388-3C= c.*296-3C= (n.*296-3C=) n.715-3C= n.517-3C= | |
| 13 | g.32326496C>G | CA2727421327 | BRCA2 | c.517-3C>G (n.517-3C>G) c.148-3C>G (n.148-3C>G) n.388-3C>G c.*296-3C>G (n.*296-3C>G) n.715-3C>G n.517-3C>G | dbSNP |
| 13 | g.32326496C>T | CA6940395 | BRCA2 | c.517-3C>T (n.517-3C>T) c.148-3C>T (n.148-3C>T) n.388-3C>T c.*296-3C>T (n.*296-3C>T) n.715-3C>T n.517-3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32326497A= | CA2082751615 | BRCA2 | c.517-2A= (n.517-2A=) c.148-2A= (n.148-2A=) n.388-2A= c.*296-2A= (n.*296-2A=) n.715-2A= n.517-2A= | |
| 13 | g.32326497A>C | CA021575 | BRCA2 | c.517-2A>C (n.517-2A>C) c.148-2A>C (n.148-2A>C) n.388-2A>C c.*296-2A>C (n.*296-2A>C) n.715-2A>C n.517-2A>C | ClinVar dbSNP |
| 13 | g.32326497A>G | CA021578 | BRCA2 | c.517-2A>G (n.517-2A>G) c.148-2A>G (n.148-2A>G) n.388-2A>G c.*296-2A>G (n.*296-2A>G) n.715-2A>G n.517-2A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326497A>T | CA387757763 | BRCA2 | c.517-2A>T (n.517-2A>T) c.148-2A>T (n.148-2A>T) n.388-2A>T c.*296-2A>T (n.*296-2A>T) n.715-2A>T n.517-2A>T | ClinVar dbSNP |
| 13 | g.32326497_32326498delinsAG | CA2082751617 | BRCA2 | c.517-2_517-1delinsAG (n.517-2_517-1delinsAG) c.148-2_148-1delinsAG (n.148-2_148-1delinsAG) n.388-2_388-1delinsAG c.*296-2_*296-1delinsAG (n.*296-2_*296-1delinsAG) n.715-2_715-1delinsAG n.517-2_517-1delinsAG | |
| 13 | g.32326497_32326614del | CA2499222047 | BRCA2 | c.517-2_631+1del c.148-2_262+1del n.388-2_503del c.*296-2_*410+1del n.715-2_829+1del n.517-2_631+1del | ClinVar dbSNP |
| 13 | g.32326498G>A | CA021567 | BRCA2 | c.517-1G>A (n.517-1G>A) c.148-1G>A (n.148-1G>A) n.388-1G>A c.*296-1G>A (n.*296-1G>A) n.715-1G>A n.517-1G>A | ClinVar dbSNP |
| 13 | g.32326498G>C | CA387757767 | BRCA2 | c.517-1G>C (n.517-1G>C) c.148-1G>C (n.148-1G>C) n.388-1G>C c.*296-1G>C (n.*296-1G>C) n.715-1G>C n.517-1G>C | ClinVar dbSNP |
| 13 | g.32326498G= | CA2082751631 | BRCA2 | c.517-1G= (n.517-1G=) c.148-1G= (n.148-1G=) n.388-1G= c.*296-1G= (n.*296-1G=) n.715-1G= n.517-1G= | |
| 13 | g.32326498G>T | CA10602523 | BRCA2 | c.517-1G>T (n.517-1G>T) c.148-1G>T (n.148-1G>T) n.388-1G>T c.*296-1G>T (n.*296-1G>T) n.715-1G>T n.517-1G>T | ClinVar dbSNP |
| 13 | g.32326500del | CA021628 | BRCA2 | c.518del c.149del n.389del c.*297del n.716del n.518del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326499G>A | CA387757774 | BRCA2 | c.517G>A (p.Gly173Ser) c.148G>A (p.Gly50Ser) n.388G>A c.*296G>A (n.*296G>A) n.715G>A n.517G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326499G>C | CA021599 | BRCA2 | c.517G>C (p.Gly173Arg) c.148G>C (p.Gly50Arg) n.388G>C c.*296G>C (n.*296G>C) n.715G>C n.517G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326499G= | CA2082751651 | BRCA2 | c.517G= (p.Gly173=) c.148G= (p.Gly50=) n.388G= c.*296G= (n.*296G=) n.715G= n.517G= | |
| 13 | g.32326499G>T | CA021603 | BRCA2 | c.517G>T (p.Gly173Cys) c.148G>T (p.Gly50Cys) n.388G>T c.*296G>T (n.*296G>T) n.715G>T n.517G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326499_32327075delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | CA2082751656 | BRCA2 | c.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.148_262+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.*296_*410+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.715_829+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | |
| 13 | g.32326500G>A | CA387757777 | BRCA2 | c.518G>A (p.Gly173Asp) c.149G>A (p.Gly50Asp) n.389G>A c.*297G>A (n.*297G>A) n.716G>A n.518G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326500G>C | CA387757779 | BRCA2 | c.518G>C (p.Gly173Ala) c.149G>C (p.Gly50Ala) n.389G>C c.*297G>C (n.*297G>C) n.716G>C n.518G>C | ClinVar dbSNP |
| 13 | g.32326500G= | CA2082751677 | BRCA2 | c.518G= (p.Gly173=) c.149G= (p.Gly50=) n.389G= c.*297G= (n.*297G=) n.716G= n.518G= | |
| 13 | g.32326500G>T | CA021632 | BRCA2 | c.518G>T (p.Gly173Val) c.149G>T (p.Gly50Val) n.389G>T c.*297G>T (n.*297G>T) n.716G>T n.518G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32326500_32327075del | CA1139663062 | BRCA2 | c.518_631+462del c.149_262+462del c.*297_*410+462del n.716_829+462del n.518_631+462del | ClinVar dbSNP |
| 13 | g.32326500_32327075delinsAAAGAAATTTTATTTCTTT | CA2697551694 | BRCA2 | c.518_631+462delinsAAAGAAATTTTATTTCTTT c.149_262+462delinsAAAGAAATTTTATTTCTTT c.*297_*410+462delinsAAAGAAATTTTATTTCTTT n.716_829+462delinsAAAGAAATTTTATTTCTTT n.518_631+462delinsAAAGAAATTTTATTTCTTT | ClinVar |
| 13 | g.32326501T>A | CA483273807 | BRCA2 | c.519T>A (p.Gly173=) c.150T>A (p.Gly50=) n.390T>A c.*298T>A (n.*298T>A) n.717T>A n.519T>A | dbSNP |
| 13 | g.32326501T>C | CA483273808 | BRCA2 | c.519T>C (p.Gly173=) c.150T>C (p.Gly50=) n.390T>C c.*298T>C (n.*298T>C) n.717T>C n.519T>C | dbSNP |
| 13 | g.32326501T>G | CA483273809 | BRCA2 | c.519T>G (p.Gly173=) c.150T>G (p.Gly50=) n.390T>G c.*298T>G (n.*298T>G) n.717T>G n.519T>G | |
| 13 | g.32326502C>A | CA387757784 | BRCA2 | c.520C>A (p.Arg174Ser) c.151C>A (p.Arg51Ser) n.391C>A c.*299C>A (n.*299C>A) n.718C>A n.520C>A | dbSNP |
| 13 | g.32326502C= | CA2082751691 | BRCA2 | c.520C= (p.Arg174=) c.151C= (p.Arg51=) n.391C= c.*299C= (n.*299C=) n.718C= n.520C= | |
| 13 | g.32326502C>G | CA387757782 | BRCA2 | c.520C>G (p.Arg174Gly) c.151C>G (p.Arg51Gly) n.391C>G c.*299C>G (n.*299C>G) n.718C>G n.520C>G | ClinVar dbSNP |
| 13 | g.32326502C>T | CA021694 | BRCA2 | c.520C>T (p.Arg174Cys) c.151C>T (p.Arg51Cys) n.391C>T c.*299C>T (n.*299C>T) n.718C>T n.520C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32326503G>A | CA021758 | BRCA2 | c.521G>A (p.Arg174His) c.152G>A (p.Arg51His) n.392G>A c.*300G>A (n.*300G>A) n.719G>A n.521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32326503G>C | CA387757787 | BRCA2 | c.521G>C (p.Arg174Pro) c.152G>C (p.Arg51Pro) n.392G>C c.*300G>C (n.*300G>C) n.719G>C n.521G>C | dbSNP |
| 13 | g.32326503G= | CA2082751703 | BRCA2 | c.521G= (p.Arg174=) c.152G= (p.Arg51=) n.392G= c.*300G= (n.*300G=) n.719G= n.521G= | |
| 13 | g.32326503G>T | CA387757789 | BRCA2 | c.521G>T (p.Arg174Leu) c.152G>T (p.Arg51Leu) n.392G>T c.*300G>T (n.*300G>T) n.719G>T n.521G>T | |
| 13 | g.32326503_32326504delinsGT | CA2082751702 | BRCA2 | c.521_522delinsGT (p.Arg174=) c.152_153delinsGT (p.Arg51=) n.392_393delinsGT c.*300_*301delinsGT (n.*300_*301delinsGT) n.719_720delinsGT n.521_522delinsGT | |
| 13 | g.32326504del | CA16614099 | BRCA2 | c.522del (p.Gln175ArgfsTer10) c.153del (p.Gln52ArgfsTer10) n.393del c.*301del (n.*301del) n.720del n.522del | ClinVar dbSNP |
| 13 | g.32326504T>A | CA483273813 | BRCA2 | c.522T>A (p.Arg174=) c.153T>A (p.Arg51=) n.393T>A c.*301T>A (n.*301T>A) n.720T>A n.522T>A | dbSNP |
| 13 | g.32326504T>C | CA483273814 | BRCA2 | c.522T>C (p.Arg174=) c.153T>C (p.Arg51=) n.393T>C c.*301T>C (n.*301T>C) n.720T>C n.522T>C | dbSNP |
| 13 | g.32326504T>G | CA483273815 | BRCA2 | c.522T>G (p.Arg174=) c.153T>G (p.Arg51=) n.393T>G c.*301T>G (n.*301T>G) n.720T>G n.522T>G | |
| 13 | g.32326505C>A | CA387757791 | BRCA2 | c.523C>A (p.Gln175Lys) c.154C>A (p.Gln52Lys) n.394C>A c.*302C>A (n.*302C>A) n.721C>A n.523C>A | |
| 13 | g.32326505C= | CA2082751717 | BRCA2 | c.523C= (p.Gln175=) c.154C= (p.Gln52=) n.394C= c.*302C= (n.*302C=) n.721C= n.523C= | |
| 13 | g.32326505C>G | CA387757793 | BRCA2 | c.523C>G (p.Gln175Glu) c.154C>G (p.Gln52Glu) n.394C>G c.*302C>G (n.*302C>G) n.721C>G n.523C>G | ClinVar dbSNP |
| 13 | g.32326505C>T | CA6940396 | BRCA2 | c.523C>T (p.Gln175Ter) c.154C>T (p.Gln52Ter) n.394C>T c.*302C>T (n.*302C>T) n.721C>T n.523C>T | ClinVar dbSNP ExAC |