| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32336477del | CA913188584 | BRCA2 | c.2122del (p.Ser708LeufsTer22) c.1753del (p.Ser585LeufsTer22) n.2122del | ClinVar dbSNP |
| 13 | g.32336476_32336478delinsTTC | CA2082749548 | BRCA2 | c.2121_2123delinsTTC (p.Asp707=) c.1752_1754delinsTTC (p.Asp584=) n.2121_2123delinsTTC | |
| 13 | g.32336477T>A | CA014385 | BRCA2 | c.2122T>A (p.Ser708Thr) c.1753T>A (p.Ser585Thr) n.2122T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336477T>C | CA387770036 | BRCA2 | c.2122T>C (p.Ser708Pro) c.1753T>C (p.Ser585Pro) n.2122T>C | |
| 13 | g.32336477T>G | CA387770038 | BRCA2 | c.2122T>G (p.Ser708Ala) c.1753T>G (p.Ser585Ala) n.2122T>G | ClinVar dbSNP |
| 13 | g.32336477T= | CA2082749568 | BRCA2 | c.2122T= (p.Ser708=) c.1753T= (p.Ser585=) n.2122T= | |
| 13 | g.32336480_32336481del | CA10586055 | BRCA2 | c.2125_2126del (p.Leu709ValfsTer9) c.1756_1757del (p.Leu586ValfsTer9) n.2125_2126del | ClinVar dbSNP |
| 13 | g.32336478C>A | CA387770042 | BRCA2 | c.2123C>A (p.Ser708Tyr) c.1754C>A (p.Ser585Tyr) n.2123C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336478C= | CA2082749585 | BRCA2 | c.2123C= (p.Ser708=) c.1754C= (p.Ser585=) n.2123C= | |
| 13 | g.32336478C>G | CA387770044 | BRCA2 | c.2123C>G (p.Ser708Cys) c.1754C>G (p.Ser585Cys) n.2123C>G | dbSNP |
| 13 | g.32336478C>T | CA387770047 | BRCA2 | c.2123C>T (p.Ser708Phe) c.1754C>T (p.Ser585Phe) n.2123C>T | dbSNP |
| 13 | g.32336478_32336479insGAACATTTTGGTTCGTAAATCCGTAGTTCGTAAATACCCGACCGTCTCCACCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAAGTAGAATCTAATTTAAGTGTATTATACCCTCTATAT | CA2540799265 | BRCA2 | c.2123_2124insGAACATTTTGGTTCGTAAATCCGTAGTTCGTAAATACCCGACCGTCTCCACCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAAGTAGAATCTAATTTAAGTGTATTATACCCTCTATAT (p.Leu709AsnfsTer35) c.1754_1755insGAACATTTTGGTTCGTAAATCCGTAGTTCGTAAATACCCGACCGTCTCCACCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAAGTAGAATCTAATTTAAGTGTATTATACCCTCTATAT (p.Leu586AsnfsTer35) n.2123_2124insGAACATTTTGGTTCGTAAATCCGTAGTTCGTAAATACCCGACCGTCTCCACCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAAGTAGAATCTAATTTAAGTGTATTATACCCTCTATAT | |
| 13 | g.32336478_32336479insGAACATTTTGGTTCGTAAAGCCGTAGTCCGTAAATACCCGACCGTCTCCGCCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAGGTAGAGTCTAATTTAAGTGTATTATACCCTCTATAT | CA2543061172 | BRCA2 | c.2123_2124insGAACATTTTGGTTCGTAAAGCCGTAGTCCGTAAATACCCGACCGTCTCCGCCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAGGTAGAGTCTAATTTAAGTGTATTATACCCTCTATAT (p.Leu709AsnfsTer35) c.1754_1755insGAACATTTTGGTTCGTAAAGCCGTAGTCCGTAAATACCCGACCGTCTCCGCCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAGGTAGAGTCTAATTTAAGTGTATTATACCCTCTATAT (p.Leu586AsnfsTer35) n.2123_2124insGAACATTTTGGTTCGTAAAGCCGTAGTCCGTAAATACCCGACCGTCTCCGCCTACCCGAAAAGTAATTTTTTGGTTTTCGTACTTACCGTTCCAGGTAGAGTCTAATTTAAGTGTATTATACCCTCTATAT | |
| 13 | g.32336479T>A | CA483436800 | BRCA2 | c.2124T>A (p.Ser708=) c.1755T>A (p.Ser585=) n.2124T>A | dbSNP |
| 13 | g.32336479T>C | CA483436801 | BRCA2 | c.2124T>C (p.Ser708=) c.1755T>C (p.Ser585=) n.2124T>C | dbSNP |
| 13 | g.32336479T>G | CA483436802 | BRCA2 | c.2124T>G (p.Ser708=) c.1755T>G (p.Ser585=) n.2124T>G | |
| 13 | g.32336480C>A | CA387770053 | BRCA2 | c.2125C>A (p.Leu709Met) c.1756C>A (p.Leu586Met) n.2125C>A | ClinVar dbSNP |
| 13 | g.32336480C= | CA2082749593 | BRCA2 | c.2125C= (p.Leu709=) c.1756C= (p.Leu586=) n.2125C= | |
| 13 | g.32336480C>G | CA014396 | BRCA2 | c.2125C>G (p.Leu709Val) c.1756C>G (p.Leu586Val) n.2125C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336480C>T | CA6940584 | BRCA2 | c.2125C>T (p.Leu709=) c.1756C>T (p.Leu586=) n.2125C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336481T>A | CA387770055 | BRCA2 | c.2126T>A (p.Leu709Gln) c.1757T>A (p.Leu586Gln) n.2126T>A | dbSNP |
| 13 | g.32336481T>C | CA387770057 | BRCA2 | c.2126T>C (p.Leu709Pro) c.1757T>C (p.Leu586Pro) n.2126T>C | dbSNP |
| 13 | g.32336481T>G | CA387770060 | BRCA2 | c.2126T>G (p.Leu709Arg) c.1757T>G (p.Leu586Arg) n.2126T>G | |
| 13 | g.32336482G>A | CA483436803 | BRCA2 | c.2127G>A (p.Leu709=) c.1758G>A (p.Leu586=) n.2127G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336482G>C | CA014402 | BRCA2 | c.2127G>C (p.Leu709=) c.1758G>C (p.Leu586=) n.2127G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336482G= | CA2082749600 | BRCA2 | c.2127G= (p.Leu709=) c.1758G= (p.Leu586=) n.2127G= | |
| 13 | g.32336482G>T | CA483436804 | BRCA2 | c.2127G>T (p.Leu709=) c.1758G>T (p.Leu586=) n.2127G>T | ClinVar dbSNP |
| 13 | g.32336483T>A | CA387770062 | BRCA2 | c.2128T>A (p.Ser710Thr) c.1759T>A (p.Ser587Thr) n.2128T>A | dbSNP |
| 13 | g.32336483T>C | CA387770066 | BRCA2 | c.2128T>C (p.Ser710Pro) c.1759T>C (p.Ser587Pro) n.2128T>C | dbSNP |
| 13 | g.32336483T>G | CA387770063 | BRCA2 | c.2128T>G (p.Ser710Ala) c.1759T>G (p.Ser587Ala) n.2128T>G | ClinVar dbSNP |
| 13 | g.32336484C>A | CA387770069 | BRCA2 | c.2129C>A (p.Ser710Ter) c.1760C>A (p.Ser587Ter) n.2129C>A | ClinVar dbSNP |
| 13 | g.32336484C= | CA2082749617 | BRCA2 | c.2129C= (p.Ser710=) c.1760C= (p.Ser587=) n.2129C= | |
| 13 | g.32336484C>G | CA10589136 | BRCA2 | c.2129C>G (p.Ser710Ter) c.1760C>G (p.Ser587Ter) n.2129C>G | ClinVar dbSNP |
| 13 | g.32336484C>T | CA387770072 | BRCA2 | c.2129C>T (p.Ser710Leu) c.1760C>T (p.Ser587Leu) n.2129C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336485A= | CA2082749627 | BRCA2 | c.2130A= (p.Ser710=) c.1761A= (p.Ser587=) n.2130A= | |
| 13 | g.32336485A>C | CA483436805 | BRCA2 | c.2130A>C (p.Ser710=) c.1761A>C (p.Ser587=) n.2130A>C | ClinVar |
| 13 | g.32336485A>G | CA483436806 | BRCA2 | c.2130A>G (p.Ser710=) c.1761A>G (p.Ser587=) n.2130A>G | |
| 13 | g.32336485A>T | CA247501439 | BRCA2 | c.2130A>T (p.Ser710=) c.1761A>T (p.Ser587=) n.2130A>T | dbSNP |
| 13 | g.32336485_32336486insAA | CA2499222098 | BRCA2 | c.2130_2131insAA (p.Cys711AsnfsTer20) c.1761_1762insAA (p.Cys588AsnfsTer20) n.2130_2131insAA | |
| 13 | g.32336486T>A | CA387770076 | BRCA2 | c.2131T>A (p.Cys711Ser) c.1762T>A (p.Cys588Ser) n.2131T>A | dbSNP |
| 13 | g.32336486T>C | CA387770078 | BRCA2 | c.2131T>C (p.Cys711Arg) c.1762T>C (p.Cys588Arg) n.2131T>C | ClinVar dbSNP |
| 13 | g.32336486T>G | CA387770080 | BRCA2 | c.2131T>G (p.Cys711Gly) c.1762T>G (p.Cys588Gly) n.2131T>G | |
| 13 | g.32336489_32336492dup | CA2573149363 | BRCA2 | c.2134_2137dup (p.Gln713ProfsTer7) c.1765_1768dup (p.Gln590ProfsTer7) n.2134_2137dup | ClinVar dbSNP |
| 13 | g.32336487G>A | CA387770082 | BRCA2 | c.2132G>A (p.Cys711Tyr) c.1763G>A (p.Cys588Tyr) n.2132G>A | ClinVar dbSNP |
| 13 | g.32336487G>C | CA387770084 | BRCA2 | c.2132G>C (p.Cys711Ser) c.1763G>C (p.Cys588Ser) n.2132G>C | dbSNP |
| 13 | g.32336487G= | CA2082749636 | BRCA2 | c.2132G= (p.Cys711=) c.1763G= (p.Cys588=) n.2132G= | |
| 13 | g.32336487G>T | CA387770087 | BRCA2 | c.2132G>T (p.Cys711Phe) c.1763G>T (p.Cys588Phe) n.2132G>T | ClinVar |
| 13 | g.32336487dup | CA2580087204 | BRCA2 | c.2132dup (p.Cys711TrpfsTer8) c.1763dup (p.Cys588TrpfsTer8) n.2132dup | ClinVar |
| 13 | g.32336488C>A | CA387770089 | BRCA2 | c.2133C>A (p.Cys711Ter) c.1764C>A (p.Cys588Ter) n.2133C>A | ClinVar dbSNP COSMIC |
| 13 | g.32336488C= | CA2082749647 | BRCA2 | c.2133C= (p.Cys711=) c.1764C= (p.Cys588=) n.2133C= |