UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32355129_32355134delinsATTAAC | CA2082810503 | BRCA2 | c.7276_7281delinsATTAAC (p.Ile2426=) c.6907_6912delinsATTAAC (p.Ile2303=) n.7276_7281delinsATTAAC c.7180_7185delinsATTAAC (p.Ile2394=) | |
| 13 | g.32355129_32355136delinsATTAACTT | CA2082810492 | BRCA2 | c.7276_7283delinsATTAACTT (p.Ile2426=) c.6907_6914delinsATTAACTT (p.Ile2303=) n.7276_7283delinsATTAACTT c.7180_7187delinsATTAACTT (p.Ile2394=) | |
| 13 | g.32355130_32355136del | CA10589420 | BRCA2 | c.7277_7283del (p.Ile2426ArgfsTer?) c.6908_6914del (p.Ile2303ArgfsTer?) n.7277_7283del c.7181_7187del (p.Ile2394ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32355132_32355136del | CA658656417 | BRCA2 | c.7279_7283del (p.Asn2427GlyfsTer10) c.6910_6914del (p.Asn2304GlyfsTer10) n.7279_7283del c.7183_7187del (p.Asn2395GlyfsTer10) | ClinVar dbSNP |
| 13 | g.32355133del | CA2727917846 | BRCA2 | c.7280del (p.Asn2427ThrfsTer?) c.6911del (p.Asn2304ThrfsTer?) n.7280del c.7184del (p.Asn2395ThrfsTer?) | dbSNP |
| 13 | g.32355133A>C | CA387740701 | BRCA2 | c.7280A>C (p.Asn2427Thr) c.6911A>C (p.Asn2304Thr) n.7280A>C c.7184A>C (p.Asn2395Thr) | dbSNP |
| 13 | g.32355133A>G | CA387740705 | BRCA2 | c.7280A>G (p.Asn2427Ser) c.6911A>G (p.Asn2304Ser) n.7280A>G c.7184A>G (p.Asn2395Ser) | dbSNP |
| 13 | g.32355133A>T | CA387740706 | BRCA2 | c.7280A>T (p.Asn2427Ile) c.6911A>T (p.Asn2304Ile) n.7280A>T c.7184A>T (p.Asn2395Ile) | dbSNP |
| 13 | g.32355134del | CA2695199709 | BRCA2 | c.7281del (p.Leu2428TrpfsTer?) c.6912del (p.Leu2305TrpfsTer?) n.7281del c.7185del (p.Leu2396TrpfsTer?) | ClinVar |
| 13 | g.32355134C>A | CA387740707 | BRCA2 | c.7281C>A (p.Asn2427Lys) c.6912C>A (p.Asn2304Lys) n.7281C>A c.7185C>A (p.Asn2395Lys) | dbSNP |
| 13 | g.32355134C= | CA2082810537 | BRCA2 | c.7281C= (p.Asn2427=) c.6912C= (p.Asn2304=) n.7281C= c.7185C= (p.Asn2395=) | |
| 13 | g.32355134C>G | CA387740708 | BRCA2 | c.7281C>G (p.Asn2427Lys) c.6912C>G (p.Asn2304Lys) n.7281C>G c.7185C>G (p.Asn2395Lys) | dbSNP |
| 13 | g.32355134C>T | CA483439807 | BRCA2 | c.7281C>T (p.Asn2427=) c.6912C>T (p.Asn2304=) n.7281C>T c.7185C>T (p.Asn2395=) | dbSNP |
| 13 | g.32355134_32355135delinsCT | CA2082810571 | BRCA2 | c.7281_7282delinsCT (p.Asn2427=) c.6912_6913delinsCT (p.Asn2304=) n.7281_7282delinsCT c.7185_7186delinsCT (p.Asn2395=) | |
| 13 | g.32355135T>A | CA387740709 | BRCA2 | c.7282T>A (p.Leu2428Met) c.6913T>A (p.Leu2305Met) n.7282T>A c.7186T>A (p.Leu2396Met) | dbSNP |
| 13 | g.32355135T>C | CA16606805 | BRCA2 | c.7282T>C (p.Leu2428=) c.6913T>C (p.Leu2305=) n.7282T>C c.7186T>C (p.Leu2396=) | ClinVar dbSNP |
| 13 | g.32355135T>G | CA387740711 | BRCA2 | c.7282T>G (p.Leu2428Val) c.6913T>G (p.Leu2305Val) n.7282T>G c.7186T>G (p.Leu2396Val) | ClinVar dbSNP |
| 13 | g.32355135T= | CA2082810591 | BRCA2 | c.7282T= (p.Leu2428=) c.6913T= (p.Leu2305=) n.7282T= c.7186T= (p.Leu2396=) | |
| 13 | g.32355136del | CA025012 | BRCA2 | c.7283del (p.Leu2428TrpfsTer?) c.6914del (p.Leu2305TrpfsTer?) n.7283del c.7187del (p.Leu2396TrpfsTer?) | ClinVar dbSNP |
| 13 | g.32355136T>A | CA10589421 | BRCA2 | c.7283T>A (p.Leu2428Ter) c.6914T>A (p.Leu2305Ter) n.7283T>A c.7187T>A (p.Leu2396Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355136T>C | CA387740726 | BRCA2 | c.7283T>C (p.Leu2428Ser) c.6914T>C (p.Leu2305Ser) n.7283T>C c.7187T>C (p.Leu2396Ser) | |
| 13 | g.32355136T>G | CA387740729 | BRCA2 | c.7283T>G (p.Leu2428Trp) c.6914T>G (p.Leu2305Trp) n.7283T>G c.7187T>G (p.Leu2396Trp) | |
| 13 | g.32355136T= | CA2082810606 | BRCA2 | c.7283T= (p.Leu2428=) c.6914T= (p.Leu2305=) n.7283T= c.7187T= (p.Leu2396=) | |
| 13 | g.32355136_32355137delinsTG | CA2082810604 | BRCA2 | c.7283_7284delinsTG (p.Leu2428=) c.6914_6915delinsTG (p.Leu2305=) n.7283_7284delinsTG c.7187_7188delinsTG (p.Leu2396=) | |
| 13 | g.32355137G>A | CA483439810 | BRCA2 | c.7284G>A (p.Leu2428=) c.6915G>A (p.Leu2305=) n.7284G>A c.7188G>A (p.Leu2396=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355137G>C | CA387740732 | BRCA2 | c.7284G>C (p.Leu2428Phe) c.6915G>C (p.Leu2305Phe) n.7284G>C c.7188G>C (p.Leu2396Phe) | ClinVar dbSNP |
| 13 | g.32355137G>T | CA387740746 | BRCA2 | c.7284G>T (p.Leu2428Phe) c.6915G>T (p.Leu2305Phe) n.7284G>T c.7188G>T (p.Leu2396Phe) | ClinVar dbSNP |
| 13 | g.32355138del | CA10586571 | BRCA2 | c.7285del (p.Glu2429ArgfsTer?) c.6916del (p.Glu2306ArgfsTer?) n.7285del c.7189del (p.Glu2397ArgfsTer?) | ClinVar dbSNP |
| 13 | g.32355138G>A | CA387740748 | BRCA2 | c.7285G>A (p.Glu2429Lys) c.6916G>A (p.Glu2306Lys) n.7285G>A c.7189G>A (p.Glu2397Lys) | dbSNP |
| 13 | g.32355138G>C | CA387740747 | BRCA2 | c.7285G>C (p.Glu2429Gln) c.6916G>C (p.Glu2306Gln) n.7285G>C c.7189G>C (p.Glu2397Gln) | dbSNP |
| 13 | g.32355138G>T | CA387740753 | BRCA2 | c.7285G>T (p.Glu2429Ter) c.6916G>T (p.Glu2306Ter) n.7285G>T c.7189G>T (p.Glu2397Ter) | dbSNP |
| 13 | g.32355139A>C | CA387740760 | BRCA2 | c.7286A>C (p.Glu2429Ala) c.6917A>C (p.Glu2306Ala) n.7286A>C c.7190A>C (p.Glu2397Ala) | ClinVar |
| 13 | g.32355139A>G | CA387740762 | BRCA2 | c.7286A>G (p.Glu2429Gly) c.6917A>G (p.Glu2306Gly) n.7286A>G c.7190A>G (p.Glu2397Gly) | dbSNP |
| 13 | g.32355139A>T | CA387740769 | BRCA2 | c.7286A>T (p.Glu2429Val) c.6917A>T (p.Glu2306Val) n.7286A>T c.7190A>T (p.Glu2397Val) | dbSNP |
| 13 | g.32355140G>A | CA025013 | BRCA2 | c.7287G>A (p.Glu2429=) c.6918G>A (p.Glu2306=) n.7287G>A c.7191G>A (p.Glu2397=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355140G>C | CA387740775 | BRCA2 | c.7287G>C (p.Glu2429Asp) c.6918G>C (p.Glu2306Asp) n.7287G>C c.7191G>C (p.Glu2397Asp) | dbSNP |
| 13 | g.32355140G= | CA2082810624 | BRCA2 | c.7287G= (p.Glu2429=) c.6918G= (p.Glu2306=) n.7287G= c.7191G= (p.Glu2397=) | |
| 13 | g.32355140G>T | CA387740778 | BRCA2 | c.7287G>T (p.Glu2429Asp) c.6918G>T (p.Glu2306Asp) n.7287G>T c.7191G>T (p.Glu2397Asp) | COSMIC COSMIC |
| 13 | g.32355141G>A | CA387740781 | BRCA2 | c.7288G>A (p.Glu2430Lys) c.6919G>A (p.Glu2307Lys) n.7288G>A c.7192G>A (p.Glu2398Lys) | dbSNP |
| 13 | g.32355141G>C | CA387740784 | BRCA2 | c.7288G>C (p.Glu2430Gln) c.6919G>C (p.Glu2307Gln) n.7288G>C c.7192G>C (p.Glu2398Gln) | dbSNP |
| 13 | g.32355141G>T | CA387740786 | BRCA2 | c.7288G>T (p.Glu2430Ter) c.6919G>T (p.Glu2307Ter) n.7288G>T c.7192G>T (p.Glu2398Ter) | ClinVar |
| 13 | g.32355142A>C | CA387740787 | BRCA2 | c.7289A>C (p.Glu2430Ala) c.6920A>C (p.Glu2307Ala) n.7289A>C c.7193A>C (p.Glu2398Ala) | |
| 13 | g.32355142A>G | CA387740789 | BRCA2 | c.7289A>G (p.Glu2430Gly) c.6920A>G (p.Glu2307Gly) n.7289A>G c.7193A>G (p.Glu2398Gly) | dbSNP |
| 13 | g.32355142A>T | CA387740794 | BRCA2 | c.7289A>T (p.Glu2430Val) c.6920A>T (p.Glu2307Val) n.7289A>T c.7193A>T (p.Glu2398Val) | ClinVar dbSNP |
| 13 | g.32355145dup | CA2499222278 | BRCA2 | c.7292dup (p.Asn2431LysfsTer8) c.6923dup (p.Asn2308LysfsTer8) n.7292dup c.7196dup (p.Asn2399LysfsTer8) | ClinVar dbSNP |
| 13 | g.32355143A= | CA2082810633 | BRCA2 | c.7290A= (p.Glu2430=) c.6921A= (p.Glu2307=) n.7290A= c.7194A= (p.Glu2398=) | |
| 13 | g.32355143A>C | CA387740798 | BRCA2 | c.7290A>C (p.Glu2430Asp) c.6921A>C (p.Glu2307Asp) n.7290A>C c.7194A>C (p.Glu2398Asp) | |
| 13 | g.32355143A>G | CA483439412 | BRCA2 | c.7290A>G (p.Glu2430=) c.6921A>G (p.Glu2307=) n.7290A>G c.7194A>G (p.Glu2398=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355143A>T | CA387740800 | BRCA2 | c.7290A>T (p.Glu2430Asp) c.6921A>T (p.Glu2307Asp) n.7290A>T c.7194A>T (p.Glu2398Asp) | dbSNP |
| 13 | g.32355144A>C | CA387740805 | BRCA2 | c.7291A>C (p.Asn2431His) c.6922A>C (p.Asn2308His) n.7291A>C c.7195A>C (p.Asn2399His) | |
| 13 | g.32355144A>G | CA387740817 | BRCA2 | c.7291A>G (p.Asn2431Asp) c.6922A>G (p.Asn2308Asp) n.7291A>G c.7195A>G (p.Asn2399Asp) | |
| 13 | g.32355144A>T | CA387740818 | BRCA2 | c.7291A>T (p.Asn2431Tyr) c.6922A>T (p.Asn2308Tyr) n.7291A>T c.7195A>T (p.Asn2399Tyr) | dbSNP |
| 13 | g.32355145A= | CA2082810639 | BRCA2 | c.7292A= (p.Asn2431=) c.6923A= (p.Asn2308=) n.7292A= c.7196A= (p.Asn2399=) | |
| 13 | g.32355145A>C | CA387740822 | BRCA2 | c.7292A>C (p.Asn2431Thr) c.6923A>C (p.Asn2308Thr) n.7292A>C c.7196A>C (p.Asn2399Thr) | |
| 13 | g.32355145A>G | CA387740824 | BRCA2 | c.7292A>G (p.Asn2431Ser) c.6923A>G (p.Asn2308Ser) n.7292A>G c.7196A>G (p.Asn2399Ser) | ClinVar dbSNP |
| 13 | g.32355145A>T | CA387740827 | BRCA2 | c.7292A>T (p.Asn2431Ile) c.6923A>T (p.Asn2308Ile) n.7292A>T c.7196A>T (p.Asn2399Ile) | ClinVar dbSNP |
| 13 | g.32355148_32355151del | CA2697551761 | BRCA2 | c.7295_7298del (p.Arg2432LysfsTer?) c.6926_6929del (p.Arg2309LysfsTer?) n.7295_7298del c.7199_7202del (p.Arg2400LysfsTer?) | ClinVar |
| 13 | g.32355146C>A | CA387740830 | BRCA2 | c.7293C>A (p.Asn2431Lys) c.6924C>A (p.Asn2308Lys) n.7293C>A c.7197C>A (p.Asn2399Lys) | dbSNP |
| 13 | g.32355146C= | CA2082810642 | BRCA2 | c.7293C= (p.Asn2431=) c.6924C= (p.Asn2308=) n.7293C= c.7197C= (p.Asn2399=) | |
| 13 | g.32355146C>G | CA387740834 | BRCA2 | c.7293C>G (p.Asn2431Lys) c.6924C>G (p.Asn2308Lys) n.7293C>G c.7197C>G (p.Asn2399Lys) | dbSNP |
| 13 | g.32355146C>T | CA483439418 | BRCA2 | c.7293C>T (p.Asn2431=) c.6924C>T (p.Asn2308=) n.7293C>T c.7197C>T (p.Asn2399=) | dbSNP |
| 13 | g.32355147A= | CA2082810645 | BRCA2 | c.7294A= (p.Arg2432=) c.6925A= (p.Arg2309=) n.7294A= c.7198A= (p.Arg2400=) | |
| 13 | g.32355147A>C | CA483439420 | BRCA2 | c.7294A>C (p.Arg2432=) c.6925A>C (p.Arg2309=) n.7294A>C c.7198A>C (p.Arg2400=) | |
| 13 | g.32355147A>G | CA387740841 | BRCA2 | c.7294A>G (p.Arg2432Gly) c.6925A>G (p.Arg2309Gly) n.7294A>G c.7198A>G (p.Arg2400Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355147A>T | CA387740844 | BRCA2 | c.7294A>T (p.Arg2432Ter) c.6925A>T (p.Arg2309Ter) n.7294A>T c.7198A>T (p.Arg2400Ter) | dbSNP |
| 13 | g.32355147dup | CA2580087421 | BRCA2 | c.7294dup (p.Arg2432LysfsTer7) c.6925dup (p.Arg2309LysfsTer7) n.7294dup c.7198dup (p.Arg2400LysfsTer7) | ClinVar |
| 13 | g.32355148G>A | CA387740850 | BRCA2 | c.7295G>A (p.Arg2432Lys) c.6926G>A (p.Arg2309Lys) n.7295G>A c.7199G>A (p.Arg2400Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355148G>C | CA387740851 | BRCA2 | c.7295G>C (p.Arg2432Thr) c.6926G>C (p.Arg2309Thr) n.7295G>C c.7199G>C (p.Arg2400Thr) | dbSNP |
| 13 | g.32355148G= | CA2082810646 | BRCA2 | c.7295G= (p.Arg2432=) c.6926G= (p.Arg2309=) n.7295G= c.7199G= (p.Arg2400=) | |
| 13 | g.32355148G>T | CA387740848 | BRCA2 | c.7295G>T (p.Arg2432Ile) c.6926G>T (p.Arg2309Ile) n.7295G>T c.7199G>T (p.Arg2400Ile) | dbSNP |
| 13 | g.32355149A= | CA2082810652 | BRCA2 | c.7296A= (p.Arg2432=) c.6927A= (p.Arg2309=) n.7296A= c.7200A= (p.Arg2400=) | |
| 13 | g.32355149A>C | CA387740852 | BRCA2 | c.7296A>C (p.Arg2432Ser) c.6927A>C (p.Arg2309Ser) n.7296A>C c.7200A>C (p.Arg2400Ser) | |
| 13 | g.32355149A>G | CA16606437 | BRCA2 | c.7296A>G (p.Arg2432=) c.6927A>G (p.Arg2309=) n.7296A>G c.7200A>G (p.Arg2400=) | ClinVar dbSNP |
| 13 | g.32355149A>T | CA387740853 | BRCA2 | c.7296A>T (p.Arg2432Ser) c.6927A>T (p.Arg2309Ser) n.7296A>T c.7200A>T (p.Arg2400Ser) | dbSNP |
| 13 | g.32355150C>A | CA387740856 | BRCA2 | c.7297C>A (p.Gln2433Lys) c.6928C>A (p.Gln2310Lys) n.7297C>A c.7201C>A (p.Gln2401Lys) | ClinVar dbSNP |
| 13 | g.32355150C>G | CA387740859 | BRCA2 | c.7297C>G (p.Gln2433Glu) c.6928C>G (p.Gln2310Glu) n.7297C>G c.7201C>G (p.Gln2401Glu) | |
| 13 | g.32355150C>T | CA387740866 | BRCA2 | c.7297C>T (p.Gln2433Ter) c.6928C>T (p.Gln2310Ter) n.7297C>T c.7201C>T (p.Gln2401Ter) | ClinVar |
| 13 | g.32355150_32355151delinsCA | CA2082810655 | BRCA2 | c.7297_7298delinsCA (p.Gln2433=) c.6928_6929delinsCA (p.Gln2310=) n.7297_7298delinsCA c.7201_7202delinsCA (p.Gln2401=) | |
| 13 | g.32355151A= | CA2082810668 | BRCA2 | c.7298A= (p.Gln2433=) c.6929A= (p.Gln2310=) n.7298A= c.7202A= (p.Gln2401=) | |
| 13 | g.32355151A>C | CA387740869 | BRCA2 | c.7298A>C (p.Gln2433Pro) c.6929A>C (p.Gln2310Pro) n.7298A>C c.7202A>C (p.Gln2401Pro) | |
| 13 | g.32355151A>G | CA387740871 | BRCA2 | c.7298A>G (p.Gln2433Arg) c.6929A>G (p.Gln2310Arg) n.7298A>G c.7202A>G (p.Gln2401Arg) | ClinVar dbSNP |
| 13 | g.32355151A>T | CA387740873 | BRCA2 | c.7298A>T (p.Gln2433Leu) c.6929A>T (p.Gln2310Leu) n.7298A>T c.7202A>T (p.Gln2401Leu) | dbSNP |
| 13 | g.32355154del | CA025019 | BRCA2 | c.7301del (p.Lys2434SerfsTer?) c.6932del (p.Lys2311SerfsTer?) n.7301del c.7205del (p.Lys2402SerfsTer?) | ClinVar dbSNP |
| 13 | g.32355153_32355154del | CA2580617977 | BRCA2 | c.7300_7301del (p.Lys2434AlafsTer4) c.6931_6932del (p.Lys2311AlafsTer4) n.7300_7301del c.7204_7205del (p.Lys2402AlafsTer4) | ClinVar |
| 13 | g.32355152A= | CA2082810684 | BRCA2 | c.7299A= (p.Gln2433=) c.6930A= (p.Gln2310=) n.7299A= c.7203A= (p.Gln2401=) | |
| 13 | g.32355152A>C | CA387740882 | BRCA2 | c.7299A>C (p.Gln2433His) c.6930A>C (p.Gln2310His) n.7299A>C c.7203A>C (p.Gln2401His) | |
| 13 | g.32355152A>G | CA025016 | BRCA2 | c.7299A>G (p.Gln2433=) c.6930A>G (p.Gln2310=) n.7299A>G c.7203A>G (p.Gln2401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355152A>T | CA387740890 | BRCA2 | c.7299A>T (p.Gln2433His) c.6930A>T (p.Gln2310His) n.7299A>T c.7203A>T (p.Gln2401His) | dbSNP |
| 13 | g.32355153A>C | CA387740906 | BRCA2 | c.7300A>C (p.Lys2434Gln) c.6931A>C (p.Lys2311Gln) n.7300A>C c.7204A>C (p.Lys2402Gln) | |
| 13 | g.32355153A>G | CA387740903 | BRCA2 | c.7300A>G (p.Lys2434Glu) c.6931A>G (p.Lys2311Glu) n.7300A>G c.7204A>G (p.Lys2402Glu) | dbSNP |
| 13 | g.32355153A>T | CA387740900 | BRCA2 | c.7300A>T (p.Lys2434Ter) c.6931A>T (p.Lys2311Ter) n.7300A>T c.7204A>T (p.Lys2402Ter) | dbSNP |
| 13 | g.32355154A= | CA2082810694 | BRCA2 | c.7301A= (p.Lys2434=) c.6932A= (p.Lys2311=) n.7301A= c.7205A= (p.Lys2402=) | |
| 13 | g.32355154A>C | CA025018 | BRCA2 | c.7301A>C (p.Lys2434Thr) c.6932A>C (p.Lys2311Thr) n.7301A>C c.7205A>C (p.Lys2402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355154A>G | CA387740911 | BRCA2 | c.7301A>G (p.Lys2434Arg) c.6932A>G (p.Lys2311Arg) n.7301A>G c.7205A>G (p.Lys2402Arg) | ClinVar dbSNP |
| 13 | g.32355154A>T | CA387740913 | BRCA2 | c.7301A>T (p.Lys2434Met) c.6932A>T (p.Lys2311Met) n.7301A>T c.7205A>T (p.Lys2402Met) | dbSNP |
| 13 | g.32355155G>A | CA483439430 | BRCA2 | c.7302G>A (p.Lys2434=) c.6933G>A (p.Lys2311=) n.7302G>A c.7206G>A (p.Lys2402=) | ClinVar dbSNP |
| 13 | g.32355155G>C | CA387740916 | BRCA2 | c.7302G>C (p.Lys2434Asn) c.6933G>C (p.Lys2311Asn) n.7302G>C c.7206G>C (p.Lys2402Asn) | dbSNP |
| 13 | g.32355155G>T | CA387740922 | BRCA2 | c.7302G>T (p.Lys2434Asn) c.6933G>T (p.Lys2311Asn) n.7302G>T c.7206G>T (p.Lys2402Asn) | |
| 13 | g.32355156C>A | CA387740925 | BRCA2 | c.7303C>A (p.Gln2435Lys) c.6934C>A (p.Gln2312Lys) n.7303C>A c.7207C>A (p.Gln2403Lys) | dbSNP |
| 13 | g.32355156C= | CA2082810710 | BRCA2 | c.7303C= (p.Gln2435=) c.6934C= (p.Gln2312=) n.7303C= c.7207C= (p.Gln2403=) | |
| 13 | g.32355156C>G | CA6941077 | BRCA2 | c.7303C>G (p.Gln2435Glu) c.6934C>G (p.Gln2312Glu) n.7303C>G c.7207C>G (p.Gln2403Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355156C>T | CA025020 | BRCA2 | c.7303C>T (p.Gln2435Ter) c.6934C>T (p.Gln2312Ter) n.7303C>T c.7207C>T (p.Gln2403Ter) | ClinVar dbSNP |
| 13 | g.32355157A= | CA2082810722 | BRCA2 | c.7304A= (p.Gln2435=) c.6935A= (p.Gln2312=) n.7304A= c.7208A= (p.Gln2403=) | |
| 13 | g.32355157A>C | CA387740935 | BRCA2 | c.7304A>C (p.Gln2435Pro) c.6935A>C (p.Gln2312Pro) n.7304A>C c.7208A>C (p.Gln2403Pro) | |
| 13 | g.32355157A>G | CA025022 | BRCA2 | c.7304A>G (p.Gln2435Arg) c.6935A>G (p.Gln2312Arg) n.7304A>G c.7208A>G (p.Gln2403Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355157A>T | CA387740954 | BRCA2 | c.7304A>T (p.Gln2435Leu) c.6935A>T (p.Gln2312Leu) n.7304A>T c.7208A>T (p.Gln2403Leu) | dbSNP |
| 13 | g.32355160del | CA658761172 | BRCA2 | c.7307del (p.Asn2436ThrfsTer?) c.6938del (p.Asn2313ThrfsTer?) n.7307del c.7211del (p.Asn2404ThrfsTer?) | |
| 13 | g.32355158A>C | CA387740959 | BRCA2 | c.7305A>C (p.Gln2435His) c.6936A>C (p.Gln2312His) n.7305A>C c.7209A>C (p.Gln2403His) | dbSNP |
| 13 | g.32355158A>G | CA483439432 | BRCA2 | c.7305A>G (p.Gln2435=) c.6936A>G (p.Gln2312=) n.7305A>G c.7209A>G (p.Gln2403=) | ClinVar gnomAD v4 |
| 13 | g.32355158A>T | CA387740965 | BRCA2 | c.7305A>T (p.Gln2435His) c.6936A>T (p.Gln2312His) n.7305A>T c.7209A>T (p.Gln2403His) | dbSNP |
| 13 | g.32355159A= | CA2082810730 | BRCA2 | c.7306A= (p.Asn2436=) c.6937A= (p.Asn2313=) n.7306A= c.7210A= (p.Asn2404=) | |
| 13 | g.32355159A>C | CA387740977 | BRCA2 | c.7306A>C (p.Asn2436His) c.6937A>C (p.Asn2313His) n.7306A>C c.7210A>C (p.Asn2404His) | ClinVar dbSNP |
| 13 | g.32355159A>G | CA387740981 | BRCA2 | c.7306A>G (p.Asn2436Asp) c.6937A>G (p.Asn2313Asp) n.7306A>G c.7210A>G (p.Asn2404Asp) | |
| 13 | g.32355159A>T | CA387740969 | BRCA2 | c.7306A>T (p.Asn2436Tyr) c.6937A>T (p.Asn2313Tyr) n.7306A>T c.7210A>T (p.Asn2404Tyr) | dbSNP |
| 13 | g.32355160A= | CA2082810736 | BRCA2 | c.7307A= (p.Asn2436=) c.6938A= (p.Asn2313=) n.7307A= c.7211A= (p.Asn2404=) | |
| 13 | g.32355160A>C | CA387740998 | BRCA2 | c.7307A>C (p.Asn2436Thr) c.6938A>C (p.Asn2313Thr) n.7307A>C c.7211A>C (p.Asn2404Thr) | |
| 13 | g.32355160A>G | CA025023 | BRCA2 | c.7307A>G (p.Asn2436Ser) c.6938A>G (p.Asn2313Ser) n.7307A>G c.7211A>G (p.Asn2404Ser) | ClinVar dbSNP |
| 13 | g.32355160A>T | CA025024 | BRCA2 | c.7307A>T (p.Asn2436Ile) c.6938A>T (p.Asn2313Ile) n.7307A>T c.7211A>T (p.Asn2404Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355160_32355161delinsAC | CA2082810743 | BRCA2 | c.7307_7308delinsAC (p.Asn2436=) c.6938_6939delinsAC (p.Asn2313=) n.7307_7308delinsAC c.7211_7212delinsAC (p.Asn2404=) | |
| 13 | g.32355161del | CA658823725 | BRCA2 | c.7308del (p.Asn2436LysfsTer?) c.6939del (p.Asn2313LysfsTer?) n.7308del c.7212del (p.Asn2404LysfsTer?) | ClinVar dbSNP |
| 13 | g.32355161C>A | CA387741002 | BRCA2 | c.7308C>A (p.Asn2436Lys) c.6939C>A (p.Asn2313Lys) n.7308C>A c.7212C>A (p.Asn2404Lys) | dbSNP |
| 13 | g.32355161C>G | CA387741005 | BRCA2 | c.7308C>G (p.Asn2436Lys) c.6939C>G (p.Asn2313Lys) n.7308C>G c.7212C>G (p.Asn2404Lys) | dbSNP |
| 13 | g.32355161C>T | CA483439433 | BRCA2 | c.7308C>T (p.Asn2436=) c.6939C>T (p.Asn2313=) n.7308C>T c.7212C>T (p.Asn2404=) | ClinVar dbSNP |
| 13 | g.32355161_32355162delinsCA | CA2082810753 | BRCA2 | c.7308_7309delinsCA (p.Asn2436=) c.6939_6940delinsCA (p.Asn2313=) n.7308_7309delinsCA c.7212_7213delinsCA (p.Asn2404=) | |
| 13 | g.32355162del | CA10589422 | BRCA2 | c.7309del (p.Ile2437LeufsTer30) c.6940del (p.Ile2314LeufsTer30) n.7309del c.7309del (p.Ile2437LeufsTer?) c.7213del (p.Ile2405LeufsTer30) | ClinVar dbSNP |
| 13 | g.32355162A= | CA2082810768 | BRCA2 | c.7309A= (p.Ile2437=) c.6940A= (p.Ile2314=) n.7309A= c.7213A= (p.Ile2405=) | |
| 13 | g.32355162A>C | CA387741009 | BRCA2 | c.7309A>C (p.Ile2437Leu) c.6940A>C (p.Ile2314Leu) n.7309A>C c.7213A>C (p.Ile2405Leu) | dbSNP |
| 13 | g.32355162A>G | CA6941078 | BRCA2 | c.7309A>G (p.Ile2437Val) c.6940A>G (p.Ile2314Val) n.7309A>G c.7213A>G (p.Ile2405Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355162A>T | CA387741016 | BRCA2 | c.7309A>T (p.Ile2437Phe) c.6940A>T (p.Ile2314Phe) n.7309A>T c.7213A>T (p.Ile2405Phe) | dbSNP |
| 13 | g.32355163T>A | CA387741022 | BRCA2 | c.7310T>A (p.Ile2437Asn) c.6941T>A (p.Ile2314Asn) n.7310T>A c.7214T>A (p.Ile2405Asn) | ClinVar dbSNP |
| 13 | g.32355163T>C | CA387741026 | BRCA2 | c.7310T>C (p.Ile2437Thr) c.6941T>C (p.Ile2314Thr) n.7310T>C c.7214T>C (p.Ile2405Thr) | ClinVar dbSNP |
| 13 | g.32355163T>G | CA387741035 | BRCA2 | c.7310T>G (p.Ile2437Ser) c.6941T>G (p.Ile2314Ser) n.7310T>G c.7214T>G (p.Ile2405Ser) | |
| 13 | g.32355163T= | CA2082810779 | BRCA2 | c.7310T= (p.Ile2437=) c.6941T= (p.Ile2314=) n.7310T= c.7214T= (p.Ile2405=) | |
| 13 | g.32355164del | CA2499222279 | BRCA2 | c.7311del (p.Ile2437MetfsTer30) c.6942del (p.Ile2314MetfsTer30) n.7311del c.7311del (p.Ile2437MetfsTer?) c.7215del (p.Ile2405MetfsTer30) | |
| 13 | g.32355164T>A | CA483439438 | BRCA2 | c.7311T>A (p.Ile2437=) c.6942T>A (p.Ile2314=) n.7311T>A c.7215T>A (p.Ile2405=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355164T>C | CA483439439 | BRCA2 | c.7311T>C (p.Ile2437=) c.6942T>C (p.Ile2314=) n.7311T>C c.7215T>C (p.Ile2405=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355164T>G | CA387741038 | BRCA2 | c.7311T>G (p.Ile2437Met) c.6942T>G (p.Ile2314Met) n.7311T>G c.7215T>G (p.Ile2405Met) | ClinVar dbSNP |
| 13 | g.32355164T= | CA2082810789 | BRCA2 | c.7311T= (p.Ile2437=) c.6942T= (p.Ile2314=) n.7311T= c.7215T= (p.Ile2405=) | |
| 13 | g.32355165G>A | CA6941080 | BRCA2 | c.7312G>A (p.Asp2438Asn) c.6943G>A (p.Asp2315Asn) n.7312G>A c.7216G>A (p.Asp2406Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355165G>C | CA387741042 | BRCA2 | c.7312G>C (p.Asp2438His) c.6943G>C (p.Asp2315His) n.7312G>C c.7216G>C (p.Asp2406His) | dbSNP |
| 13 | g.32355165G= | CA2082810801 | BRCA2 | c.7312G= (p.Asp2438=) c.6943G= (p.Asp2315=) n.7312G= c.7216G= (p.Asp2406=) | |
| 13 | g.32355165G>T | CA6941079 | BRCA2 | c.7312G>T (p.Asp2438Tyr) c.6943G>T (p.Asp2315Tyr) n.7312G>T c.7216G>T (p.Asp2406Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355166A= | CA2082810806 | BRCA2 | c.7313A= (p.Asp2438=) c.6944A= (p.Asp2315=) n.7313A= c.7217A= (p.Asp2406=) | |
| 13 | g.32355166A>C | CA387741044 | BRCA2 | c.7313A>C (p.Asp2438Ala) c.6944A>C (p.Asp2315Ala) n.7313A>C c.7217A>C (p.Asp2406Ala) | dbSNP |
| 13 | g.32355166A>G | CA025026 | BRCA2 | c.7313A>G (p.Asp2438Gly) c.6944A>G (p.Asp2315Gly) n.7313A>G c.7217A>G (p.Asp2406Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355166A>T | CA387741050 | BRCA2 | c.7313A>T (p.Asp2438Val) c.6944A>T (p.Asp2315Val) n.7313A>T c.7217A>T (p.Asp2406Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355167T>A | CA387741054 | BRCA2 | c.7314T>A (p.Asp2438Glu) c.6945T>A (p.Asp2315Glu) n.7314T>A c.7218T>A (p.Asp2406Glu) | |
| 13 | g.32355167T>C | CA483439444 | BRCA2 | c.7314T>C (p.Asp2438=) c.6945T>C (p.Asp2315=) n.7314T>C c.7218T>C (p.Asp2406=) | ClinVar COSMIC COSMIC |
| 13 | g.32355167T>G | CA387741060 | BRCA2 | c.7314T>G (p.Asp2438Glu) c.6945T>G (p.Asp2315Glu) n.7314T>G c.7218T>G (p.Asp2406Glu) | dbSNP |
| 13 | g.32355168G>A | CA387741064 | BRCA2 | c.7315G>A (p.Gly2439Arg) c.6946G>A (p.Gly2316Arg) n.7315G>A c.7219G>A (p.Gly2407Arg) | dbSNP |
| 13 | g.32355168G>C | CA387741065 | BRCA2 | c.7315G>C (p.Gly2439Arg) c.6946G>C (p.Gly2316Arg) n.7315G>C c.7219G>C (p.Gly2407Arg) | dbSNP |
| 13 | g.32355168G>T | CA387741066 | BRCA2 | c.7315G>T (p.Gly2439Ter) c.6946G>T (p.Gly2316Ter) n.7315G>T c.7219G>T (p.Gly2407Ter) | |
| 13 | g.32355169del | CA658761173 | BRCA2 | c.7316del (p.Gly2439AspfsTer28) c.6947del (p.Gly2316AspfsTer28) n.7316del c.7316del (p.Gly2439AspfsTer30) c.7220del (p.Gly2407AspfsTer28) | |
| 13 | g.32355169G>A | CA387741068 | BRCA2 | c.7316G>A (p.Gly2439Glu) c.6947G>A (p.Gly2316Glu) n.7316G>A c.7220G>A (p.Gly2407Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355169G>C | CA387741069 | BRCA2 | c.7316G>C (p.Gly2439Ala) c.6947G>C (p.Gly2316Ala) n.7316G>C c.7220G>C (p.Gly2407Ala) | ClinVar dbSNP |
| 13 | g.32355169G= | CA2082810826 | BRCA2 | c.7316G= (p.Gly2439=) c.6947G= (p.Gly2316=) n.7316G= c.7220G= (p.Gly2407=) | |
| 13 | g.32355169G>T | CA387741071 | BRCA2 | c.7316G>T (p.Gly2439Val) c.6947G>T (p.Gly2316Val) n.7316G>T c.7220G>T (p.Gly2407Val) | ClinVar dbSNP |
| 13 | g.32355169_32355170delinsGA | CA2082810820 | BRCA2 | c.7316_7317delinsGA (p.Gly2439=) c.6947_6948delinsGA (p.Gly2316=) n.7316_7317delinsGA c.7220_7221delinsGA (p.Gly2407=) | |
| 13 | g.32355170del | CA1139663173 | BRCA2 | c.7317del (p.His2440MetfsTer27) c.6948del (p.His2317MetfsTer27) n.7317del c.7317del (p.His2440MetfsTer29) c.7221del (p.His2408MetfsTer27) | ClinVar dbSNP |
| 13 | g.32355170A= | CA2082810831 | BRCA2 | c.7317A= (p.Gly2439=) c.6948A= (p.Gly2316=) n.7317A= c.7221A= (p.Gly2407=) | |
| 13 | g.32355170A>C | CA483439445 | BRCA2 | c.7317A>C (p.Gly2439=) c.6948A>C (p.Gly2316=) n.7317A>C c.7221A>C (p.Gly2407=) | dbSNP |
| 13 | g.32355170A>G | CA025027 | BRCA2 | c.7317A>G (p.Gly2439=) c.6948A>G (p.Gly2316=) n.7317A>G c.7221A>G (p.Gly2407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355170A>T | CA483439447 | BRCA2 | c.7317A>T (p.Gly2439=) c.6948A>T (p.Gly2316=) n.7317A>T c.7221A>T (p.Gly2407=) | dbSNP |
| 13 | g.32355171C>A | CA387741077 | BRCA2 | c.7318C>A (p.His2440Asn) c.6949C>A (p.His2317Asn) n.7318C>A c.7222C>A (p.His2408Asn) | ClinVar dbSNP |
| 13 | g.32355171C= | CA2082810836 | BRCA2 | c.7318C= (p.His2440=) c.6949C= (p.His2317=) n.7318C= c.7222C= (p.His2408=) | |
| 13 | g.32355171C>G | CA387741078 | BRCA2 | c.7318C>G (p.His2440Asp) c.6949C>G (p.His2317Asp) n.7318C>G c.7222C>G (p.His2408Asp) | dbSNP |
| 13 | g.32355171C>T | CA387741076 | BRCA2 | c.7318C>T (p.His2440Tyr) c.6949C>T (p.His2317Tyr) n.7318C>T c.7222C>T (p.His2408Tyr) | ClinVar dbSNP |
| 13 | g.32355172A= | CA2082810846 | BRCA2 | c.7319A= (p.His2440=) c.6950A= (p.His2317=) n.7319A= c.7223A= (p.His2408=) | |
| 13 | g.32355172A>C | CA10579732 | BRCA2 | c.7319A>C (p.His2440Pro) c.6950A>C (p.His2317Pro) n.7319A>C c.7223A>C (p.His2408Pro) | ClinVar dbSNP |
| 13 | g.32355172A>G | CA025028 | BRCA2 | c.7319A>G (p.His2440Arg) c.6950A>G (p.His2317Arg) n.7319A>G c.7223A>G (p.His2408Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355172A>T | CA387741081 | BRCA2 | c.7319A>T (p.His2440Leu) c.6950A>T (p.His2317Leu) n.7319A>T c.7223A>T (p.His2408Leu) | ClinVar dbSNP |
| 13 | g.32355173T>A | CA387741086 | BRCA2 | c.7320T>A (p.His2440Gln) c.6951T>A (p.His2317Gln) n.7320T>A c.7224T>A (p.His2408Gln) | dbSNP |
| 13 | g.32355173T>C | CA483439451 | BRCA2 | c.7320T>C (p.His2440=) c.6951T>C (p.His2317=) n.7320T>C c.7224T>C (p.His2408=) | ClinVar gnomAD v4 |
| 13 | g.32355173T>G | CA387741091 | BRCA2 | c.7320T>G (p.His2440Gln) c.6951T>G (p.His2317Gln) n.7320T>G c.7224T>G (p.His2408Gln) | |
| 13 | g.32355173_32355174delinsTG | CA2082810857 | BRCA2 | c.7320_7321delinsTG (p.His2440=) c.6951_6952delinsTG (p.His2317=) n.7320_7321delinsTG c.7224_7225delinsTG (p.His2408=) | |
| 13 | g.32355174G>A | CA387741095 | BRCA2 | c.7321G>A (p.Gly2441Ser) c.6952G>A (p.Gly2318Ser) n.7321G>A c.7225G>A (p.Gly2409Ser) | ClinVar dbSNP |
| 13 | g.32355174G>C | CA387741100 | BRCA2 | c.7321G>C (p.Gly2441Arg) c.6952G>C (p.Gly2318Arg) n.7321G>C c.7225G>C (p.Gly2409Arg) | dbSNP |
| 13 | g.32355174G>T | CA387741103 | BRCA2 | c.7321G>T (p.Gly2441Cys) c.6952G>T (p.Gly2318Cys) n.7321G>T c.7225G>T (p.Gly2409Cys) | dbSNP |
| 13 | g.32355175del | CA025029 | BRCA2 | c.7322del (p.Gly2441AlafsTer26) c.6953del (p.Gly2318AlafsTer26) n.7322del c.7322del (p.Gly2441AlafsTer28) c.7226del (p.Gly2409AlafsTer26) | ClinVar dbSNP |
| 13 | g.32355175G>A | CA247468704 | BRCA2 | c.7322G>A (p.Gly2441Asp) c.6953G>A (p.Gly2318Asp) n.7322G>A c.7226G>A (p.Gly2409Asp) | ClinVar dbSNP |
| 13 | g.32355175G>C | CA025030 | BRCA2 | c.7322G>C (p.Gly2441Ala) c.6953G>C (p.Gly2318Ala) n.7322G>C c.7226G>C (p.Gly2409Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355175G= | CA2082810874 | BRCA2 | c.7322G= (p.Gly2441=) c.6953G= (p.Gly2318=) n.7322G= c.7226G= (p.Gly2409=) | |
| 13 | g.32355175G>T | CA387741106 | BRCA2 | c.7322G>T (p.Gly2441Val) c.6953G>T (p.Gly2318Val) n.7322G>T c.7226G>T (p.Gly2409Val) | dbSNP |
| 13 | g.32355176C>A | CA483439456 | BRCA2 | c.7323C>A (p.Gly2441=) c.6954C>A (p.Gly2318=) n.7323C>A c.7227C>A (p.Gly2409=) | dbSNP |
| 13 | g.32355176C>G | CA483439454 | BRCA2 | c.7323C>G (p.Gly2441=) c.6954C>G (p.Gly2318=) n.7323C>G c.7227C>G (p.Gly2409=) | dbSNP |
| 13 | g.32355176C>T | CA483439455 | BRCA2 | c.7323C>T (p.Gly2441=) c.6954C>T (p.Gly2318=) n.7323C>T c.7227C>T (p.Gly2409=) | dbSNP |
| 13 | g.32355177T>A | CA387741117 | BRCA2 | c.7324T>A (p.Ser2442Thr) c.6955T>A (p.Ser2319Thr) n.7324T>A c.7228T>A (p.Ser2410Thr) | dbSNP |
| 13 | g.32355177T>C | CA387741119 | BRCA2 | c.7324T>C (p.Ser2442Pro) c.6955T>C (p.Ser2319Pro) n.7324T>C c.7228T>C (p.Ser2410Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355177T>G | CA387741112 | BRCA2 | c.7324T>G (p.Ser2442Ala) c.6955T>G (p.Ser2319Ala) n.7324T>G c.7228T>G (p.Ser2410Ala) | |
| 13 | g.32355178C>A | CA387741130 | BRCA2 | c.7325C>A (p.Ser2442Tyr) c.6956C>A (p.Ser2319Tyr) n.7325C>A c.7229C>A (p.Ser2410Tyr) | dbSNP |
| 13 | g.32355178C>G | CA387741134 | BRCA2 | c.7325C>G (p.Ser2442Cys) c.6956C>G (p.Ser2319Cys) n.7325C>G c.7229C>G (p.Ser2410Cys) | ClinVar dbSNP |
| 13 | g.32355178C>T | CA387741137 | BRCA2 | c.7325C>T (p.Ser2442Phe) c.6956C>T (p.Ser2319Phe) n.7325C>T c.7229C>T (p.Ser2410Phe) | ClinVar dbSNP |
| 13 | g.32355179T>A | CA483439458 | BRCA2 | c.7326T>A (p.Ser2442=) c.6957T>A (p.Ser2319=) n.7326T>A c.7230T>A (p.Ser2410=) | dbSNP |
| 13 | g.32355179T>C | CA483439460 | BRCA2 | c.7326T>C (p.Ser2442=) c.6957T>C (p.Ser2319=) n.7326T>C c.7230T>C (p.Ser2410=) | |
| 13 | g.32355179T>G | CA483439461 | BRCA2 | c.7326T>G (p.Ser2442=) c.6957T>G (p.Ser2319=) n.7326T>G c.7230T>G (p.Ser2410=) | |
| 13 | g.32355180G>A | CA387741143 | BRCA2 | c.7327G>A (p.Asp2443Asn) c.6958G>A (p.Asp2320Asn) n.7327G>A c.7231G>A (p.Asp2411Asn) | dbSNP gnomAD v2 |
| 13 | g.32355180G>C | CA387741145 | BRCA2 | c.7327G>C (p.Asp2443His) c.6958G>C (p.Asp2320His) n.7327G>C c.7231G>C (p.Asp2411His) | dbSNP |
| 13 | g.32355180G= | CA2082810876 | BRCA2 | c.7327G= (p.Asp2443=) c.6958G= (p.Asp2320=) n.7327G= c.7231G= (p.Asp2411=) | |
| 13 | g.32355180G>T | CA387741148 | BRCA2 | c.7327G>T (p.Asp2443Tyr) c.6958G>T (p.Asp2320Tyr) n.7327G>T c.7231G>T (p.Asp2411Tyr) | |
| 13 | g.32355181A= | CA2082810884 | BRCA2 | c.7328A= (p.Asp2443=) c.6959A= (p.Asp2320=) n.7328A= c.7232A= (p.Asp2411=) | |
| 13 | g.32355181A>C | CA387741150 | BRCA2 | c.7328A>C (p.Asp2443Ala) c.6959A>C (p.Asp2320Ala) n.7328A>C c.7232A>C (p.Asp2411Ala) | dbSNP |
| 13 | g.32355181A>G | CA387741152 | BRCA2 | c.7328A>G (p.Asp2443Gly) c.6959A>G (p.Asp2320Gly) n.7328A>G c.7232A>G (p.Asp2411Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355181A>T | CA387741151 | BRCA2 | c.7328A>T (p.Asp2443Val) c.6959A>T (p.Asp2320Val) n.7328A>T c.7232A>T (p.Asp2411Val) | dbSNP COSMIC COSMIC |
| 13 | g.32355182T>A | CA387741153 | BRCA2 | c.7329T>A (p.Asp2443Glu) c.6960T>A (p.Asp2320Glu) n.7329T>A c.7233T>A (p.Asp2411Glu) | dbSNP gnomAD v4 |
| 13 | g.32355182T>C | CA483439462 | BRCA2 | c.7329T>C (p.Asp2443=) c.6960T>C (p.Asp2320=) n.7329T>C c.7233T>C (p.Asp2411=) | gnomAD v4 |
| 13 | g.32355182T>G | CA387741158 | BRCA2 | c.7329T>G (p.Asp2443Glu) c.6960T>G (p.Asp2320Glu) n.7329T>G c.7233T>G (p.Asp2411Glu) | |
| 13 | g.32355183G>A | CA387741161 | BRCA2 | c.7330G>A (p.Asp2444Asn) c.6961G>A (p.Asp2321Asn) n.7330G>A c.7234G>A (p.Asp2412Asn) | dbSNP |
| 13 | g.32355183G>C | CA16619759 | BRCA2 | c.7330G>C (p.Asp2444His) c.6961G>C (p.Asp2321His) n.7330G>C c.7234G>C (p.Asp2412His) | ClinVar dbSNP |
| 13 | g.32355183G= | CA2082810893 | BRCA2 | c.7330G= (p.Asp2444=) c.6961G= (p.Asp2321=) n.7330G= c.7234G= (p.Asp2412=) | |
| 13 | g.32355183G>T | CA025031 | BRCA2 | c.7330G>T (p.Asp2444Tyr) c.6961G>T (p.Asp2321Tyr) n.7330G>T c.7234G>T (p.Asp2412Tyr) | ClinVar dbSNP |
| 13 | g.32355183_32355184delinsGA | CA2082810901 | BRCA2 | c.7330_7331delinsGA (p.Asp2444=) c.6961_6962delinsGA (p.Asp2321=) n.7330_7331delinsGA c.7234_7235delinsGA (p.Asp2412=) | |
| 13 | g.32355184del | CA645372927 | BRCA2 | c.7331del (p.Asp2444ValfsTer23) c.6962del (p.Asp2321ValfsTer23) n.7331del c.7331del (p.Asp2444ValfsTer25) c.7235del (p.Asp2412ValfsTer23) | ClinVar dbSNP |
| 13 | g.32355184A= | CA2082810919 | BRCA2 | c.7331A= (p.Asp2444=) c.6962A= (p.Asp2321=) n.7331A= c.7235A= (p.Asp2412=) | |
| 13 | g.32355184A>C | CA387741173 | BRCA2 | c.7331A>C (p.Asp2444Ala) c.6962A>C (p.Asp2321Ala) n.7331A>C c.7235A>C (p.Asp2412Ala) | |
| 13 | g.32355184A>G | CA025032 | BRCA2 | c.7331A>G (p.Asp2444Gly) c.6962A>G (p.Asp2321Gly) n.7331A>G c.7235A>G (p.Asp2412Gly) | ClinVar dbSNP |
| 13 | g.32355184A>T | CA025033 | BRCA2 | c.7331A>T (p.Asp2444Val) c.6962A>T (p.Asp2321Val) n.7331A>T c.7235A>T (p.Asp2412Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355185T>A | CA387741185 | BRCA2 | c.7332T>A (p.Asp2444Glu) c.6963T>A (p.Asp2321Glu) n.7332T>A c.7236T>A (p.Asp2412Glu) | dbSNP |
| 13 | g.32355185T>C | CA483439466 | BRCA2 | c.7332T>C (p.Asp2444=) c.6963T>C (p.Asp2321=) n.7332T>C c.7236T>C (p.Asp2412=) | ClinVar dbSNP |
| 13 | g.32355185T>G | CA387741183 | BRCA2 | c.7332T>G (p.Asp2444Glu) c.6963T>G (p.Asp2321Glu) n.7332T>G c.7236T>G (p.Asp2412Glu) | ClinVar dbSNP |
| 13 | g.32355185T= | CA2082810927 | BRCA2 | c.7332T= (p.Asp2444=) c.6963T= (p.Asp2321=) n.7332T= c.7236T= (p.Asp2412=) | |
| 13 | g.32355186A>C | CA387741192 | BRCA2 | c.7333A>C (p.Ser2445Arg) c.6964A>C (p.Ser2322Arg) n.7333A>C c.7237A>C (p.Ser2413Arg) | |
| 13 | g.32355186A>G | CA387741195 | BRCA2 | c.7333A>G (p.Ser2445Gly) c.6964A>G (p.Ser2322Gly) n.7333A>G c.7237A>G (p.Ser2413Gly) | dbSNP |
| 13 | g.32355186A>T | CA387741201 | BRCA2 | c.7333A>T (p.Ser2445Cys) c.6964A>T (p.Ser2322Cys) n.7333A>T c.7237A>T (p.Ser2413Cys) | dbSNP |
| 13 | g.32355187G>A | CA387741205 | BRCA2 | c.7334G>A (p.Ser2445Asn) c.6965G>A (p.Ser2322Asn) n.7334G>A c.7238G>A (p.Ser2413Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355187G>C | CA387741223 | BRCA2 | c.7334G>C (p.Ser2445Thr) c.6965G>C (p.Ser2322Thr) n.7334G>C c.7238G>C (p.Ser2413Thr) | ClinVar |
| 13 | g.32355187G= | CA2082810936 | BRCA2 | c.7334G= (p.Ser2445=) c.6965G= (p.Ser2322=) n.7334G= c.7238G= (p.Ser2413=) | |
| 13 | g.32355187G>T | CA387741224 | BRCA2 | c.7334G>T (p.Ser2445Ile) c.6965G>T (p.Ser2322Ile) n.7334G>T c.7238G>T (p.Ser2413Ile) | ClinVar gnomAD v4 |
| 13 | g.32355188T>A | CA387741225 | BRCA2 | c.7335T>A (p.Ser2445Arg) c.6966T>A (p.Ser2322Arg) n.7335T>A c.7239T>A (p.Ser2413Arg) | |
| 13 | g.32355188T>C | CA483439468 | BRCA2 | c.7335T>C (p.Ser2445=) c.6966T>C (p.Ser2322=) n.7335T>C c.7239T>C (p.Ser2413=) | ClinVar dbSNP |
| 13 | g.32355188T>G | CA387741226 | BRCA2 | c.7335T>G (p.Ser2445Arg) c.6966T>G (p.Ser2322Arg) n.7335T>G c.7239T>G (p.Ser2413Arg) | ClinVar dbSNP |
| 13 | g.32355188T= | CA2082810943 | BRCA2 | c.7335T= (p.Ser2445=) c.6966T= (p.Ser2322=) n.7335T= c.7239T= (p.Ser2413=) | |
| 13 | g.32355189A= | CA2082810952 | BRCA2 | c.7336A= (p.Lys2446=) c.6967A= (p.Lys2323=) n.7336A= c.7240A= (p.Lys2414=) | |
| 13 | g.32355189A>C | CA387741231 | BRCA2 | c.7336A>C (p.Lys2446Gln) c.6967A>C (p.Lys2323Gln) n.7336A>C c.7240A>C (p.Lys2414Gln) | |
| 13 | g.32355189A>G | CA387741232 | BRCA2 | c.7336A>G (p.Lys2446Glu) c.6967A>G (p.Lys2323Glu) n.7336A>G c.7240A>G (p.Lys2414Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355189A>T | CA387741234 | BRCA2 | c.7336A>T (p.Lys2446Ter) c.6967A>T (p.Lys2323Ter) n.7336A>T c.7240A>T (p.Lys2414Ter) | dbSNP |
| 13 | g.32355193dup | CA273824 | BRCA2 | c.7340dup (p.Asn2447LysfsTer2) c.6971dup (p.Asn2324LysfsTer2) n.7340dup c.7244dup (p.Asn2415LysfsTer2) | ClinVar dbSNP |
| 13 | g.32355193del | CA2580087431 | BRCA2 | c.7340del (p.Asn2447IlefsTer20) c.6971del (p.Asn2324IlefsTer20) n.7340del c.7340del (p.Asn2447IlefsTer22) c.7244del (p.Asn2415IlefsTer20) | ClinVar dbSNP |
| 13 | g.32355190A= | CA2082810978 | BRCA2 | c.7337A= (p.Lys2446=) c.6968A= (p.Lys2323=) n.7337A= c.7241A= (p.Lys2414=) | |
| 13 | g.32355190A>C | CA387741255 | BRCA2 | c.7337A>C (p.Lys2446Thr) c.6968A>C (p.Lys2323Thr) n.7337A>C c.7241A>C (p.Lys2414Thr) | gnomAD v4 |
| 13 | g.32355190A>G | CA387741251 | BRCA2 | c.7337A>G (p.Lys2446Arg) c.6968A>G (p.Lys2323Arg) n.7337A>G c.7241A>G (p.Lys2414Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355190A>T | CA387741238 | BRCA2 | c.7337A>T (p.Lys2446Ile) c.6968A>T (p.Lys2323Ile) n.7337A>T c.7241A>T (p.Lys2414Ile) | |
| 13 | g.32355190_32355191insTCAAGTGTCTCATTTTTTCATTTCTTGTAGCAG | CA2082810987 | BRCA2 | c.7337_7338insTCAAGTGTCTCATTTTTTCATTTCTTGTAGCAG (p.Lys2446delinsAsnGlnValSerHisPhePheIleSerCysSerArg) c.6968_6969insTCAAGTGTCTCATTTTTTCATTTCTTGTAGCAG (p.Lys2323delinsAsnGlnValSerHisPhePheIleSerCysSerArg) n.7337_7338insTCAAGTGTCTCATTTTTTCATTTCTTGTAGCAG c.7241_7242insTCAAGTGTCTCATTTTTTCATTTCTTGTAGCAG (p.Lys2414delinsAsnGlnValSerHisPhePheIleSerCysSerArg) | dbSNP |
| 13 | g.32355191A= | CA2082810993 | BRCA2 | c.7338A= (p.Lys2446=) c.6969A= (p.Lys2323=) n.7338A= c.7242A= (p.Lys2414=) | |
| 13 | g.32355191A>C | CA387741258 | BRCA2 | c.7338A>C (p.Lys2446Asn) c.6969A>C (p.Lys2323Asn) n.7338A>C c.7242A>C (p.Lys2414Asn) | |
| 13 | g.32355191A>G | CA483439471 | BRCA2 | c.7338A>G (p.Lys2446=) c.6969A>G (p.Lys2323=) n.7338A>G c.7242A>G (p.Lys2414=) | |
| 13 | g.32355191A>T | CA387741259 | BRCA2 | c.7338A>T (p.Lys2446Asn) c.6969A>T (p.Lys2323Asn) n.7338A>T c.7242A>T (p.Lys2414Asn) | dbSNP |
| 13 | g.32355192A= | CA2082811001 | BRCA2 | c.7339A= (p.Asn2447=) c.6970A= (p.Asn2324=) n.7339A= c.7243A= (p.Asn2415=) | |
| 13 | g.32355192A>C | CA387741262 | BRCA2 | c.7339A>C (p.Asn2447His) c.6970A>C (p.Asn2324His) n.7339A>C c.7243A>C (p.Asn2415His) | |
| 13 | g.32355192A>G | CA025034 | BRCA2 | c.7339A>G (p.Asn2447Asp) c.6970A>G (p.Asn2324Asp) n.7339A>G c.7243A>G (p.Asn2415Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355192A>T | CA387741267 | BRCA2 | c.7339A>T (p.Asn2447Tyr) c.6970A>T (p.Asn2324Tyr) n.7339A>T c.7243A>T (p.Asn2415Tyr) | |
| 13 | g.32355192_32355194delinsAAT | CA2082811015 | BRCA2 | c.7339_7341delinsAAT (p.Asn2447=) c.6970_6972delinsAAT (p.Asn2324=) n.7339_7341delinsAAT c.7243_7245delinsAAT (p.Asn2415=) | |
| 13 | g.32355193A= | CA2082811026 | BRCA2 | c.7340A= (p.Asn2447=) c.6971A= (p.Asn2324=) n.7340A= c.7244A= (p.Asn2415=) | |
| 13 | g.32355193A>C | CA6941081 | BRCA2 | c.7340A>C (p.Asn2447Thr) c.6971A>C (p.Asn2324Thr) n.7340A>C c.7244A>C (p.Asn2415Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355193A>G | CA387741277 | BRCA2 | c.7340A>G (p.Asn2447Ser) c.6971A>G (p.Asn2324Ser) n.7340A>G c.7244A>G (p.Asn2415Ser) | ClinVar dbSNP |
| 13 | g.32355193A>T | CA387741280 | BRCA2 | c.7340A>T (p.Asn2447Ile) c.6971A>T (p.Asn2324Ile) n.7340A>T c.7244A>T (p.Asn2415Ile) | ClinVar dbSNP |
| 13 | g.32355194_32355195del | CA10579733 | BRCA2 | c.7341_7342del (p.Asn2447LysfsTer3) c.6972_6973del (p.Asn2324LysfsTer3) n.7341_7342del c.7245_7246del (p.Asn2415LysfsTer3) | ClinVar dbSNP |
| 13 | g.32355194T>A | CA387741287 | BRCA2 | c.7341T>A (p.Asn2447Lys) c.6972T>A (p.Asn2324Lys) n.7341T>A c.7245T>A (p.Asn2415Lys) | |
| 13 | g.32355194T>C | CA6941082 | BRCA2 | c.7341T>C (p.Asn2447=) c.6972T>C (p.Asn2324=) n.7341T>C c.7245T>C (p.Asn2415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355194T>G | CA387741294 | BRCA2 | c.7341T>G (p.Asn2447Lys) c.6972T>G (p.Asn2324Lys) n.7341T>G c.7245T>G (p.Asn2415Lys) | |
| 13 | g.32355194T= | CA2082811037 | BRCA2 | c.7341T= (p.Asn2447=) c.6972T= (p.Asn2324=) n.7341T= c.7245T= (p.Asn2415=) | |
| 13 | g.32355194_32355196delinsTAA | CA2082811038 | BRCA2 | c.7341_7343delinsTAA (p.Asn2447=) c.6972_6974delinsTAA (p.Asn2324=) n.7341_7343delinsTAA c.7245_7247delinsTAA (p.Asn2415=) | |
| 13 | g.32355195A= | CA2082811064 | BRCA2 | c.7342A= (p.Lys2448=) c.6973A= (p.Lys2325=) n.7342A= c.7246A= (p.Lys2416=) | |
| 13 | g.32355195A>C | CA025038 | BRCA2 | c.7342A>C (p.Lys2448Gln) c.6973A>C (p.Lys2325Gln) n.7342A>C c.7246A>C (p.Lys2416Gln) | ClinVar dbSNP |
| 13 | g.32355195A>G | CA387741303 | BRCA2 | c.7342A>G (p.Lys2448Glu) c.6973A>G (p.Lys2325Glu) n.7342A>G c.7246A>G (p.Lys2416Glu) | dbSNP |
| 13 | g.32355195A>T | CA387741300 | BRCA2 | c.7342A>T (p.Lys2448Ter) c.6973A>T (p.Lys2325Ter) n.7342A>T c.7246A>T (p.Lys2416Ter) | |
| 13 | g.32355195_32355196del | CA025036 | BRCA2 | c.7342_7343del (p.Lys2448AspfsTer2) c.6973_6974del (p.Lys2325AspfsTer2) n.7342_7343del c.7246_7247del (p.Lys2416AspfsTer2) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355196A= | CA2082811075 | BRCA2 | c.7343A= (p.Lys2448=) c.6974A= (p.Lys2325=) n.7343A= c.7247A= (p.Lys2416=) | |
| 13 | g.32355196A>C | CA387741306 | BRCA2 | c.7343A>C (p.Lys2448Thr) c.6974A>C (p.Lys2325Thr) n.7343A>C c.7247A>C (p.Lys2416Thr) | |
| 13 | g.32355196A>G | CA025039 | BRCA2 | c.7343A>G (p.Lys2448Arg) c.6974A>G (p.Lys2325Arg) n.7343A>G c.7247A>G (p.Lys2416Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355196A>T | CA387741313 | BRCA2 | c.7343A>T (p.Lys2448Met) c.6974A>T (p.Lys2325Met) n.7343A>T c.7247A>T (p.Lys2416Met) | dbSNP |
| 13 | g.32355197G>A | CA483439478 | BRCA2 | c.7344G>A (p.Lys2448=) c.6975G>A (p.Lys2325=) n.7344G>A c.7248G>A (p.Lys2416=) | ClinVar dbSNP |
| 13 | g.32355197G>C | CA387741316 | BRCA2 | c.7344G>C (p.Lys2448Asn) c.6975G>C (p.Lys2325Asn) n.7344G>C c.7248G>C (p.Lys2416Asn) | dbSNP |
| 13 | g.32355197G= | CA2082811078 | BRCA2 | c.7344G= (p.Lys2448=) c.6975G= (p.Lys2325=) n.7344G= c.7248G= (p.Lys2416=) | |
| 13 | g.32355197G>T | CA387741317 | BRCA2 | c.7344G>T (p.Lys2448Asn) c.6975G>T (p.Lys2325Asn) n.7344G>T c.7248G>T (p.Lys2416Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355198A>C | CA387741324 | BRCA2 | c.7345A>C (p.Ile2449Leu) c.6976A>C (p.Ile2326Leu) n.7345A>C c.7249A>C (p.Ile2417Leu) | |
| 13 | g.32355198A>G | CA387741326 | BRCA2 | c.7345A>G (p.Ile2449Val) c.6976A>G (p.Ile2326Val) n.7345A>G c.7249A>G (p.Ile2417Val) | |
| 13 | g.32355198A>T | CA387741328 | BRCA2 | c.7345A>T (p.Ile2449Phe) c.6976A>T (p.Ile2326Phe) n.7345A>T c.7249A>T (p.Ile2417Phe) | |
| 13 | g.32355199T>A | CA387741340 | BRCA2 | c.7346T>A (p.Ile2449Asn) c.6977T>A (p.Ile2326Asn) n.7346T>A c.7250T>A (p.Ile2417Asn) | dbSNP |
| 13 | g.32355199T>C | CA387741342 | BRCA2 | c.7346T>C (p.Ile2449Thr) c.6977T>C (p.Ile2326Thr) n.7346T>C c.7250T>C (p.Ile2417Thr) | dbSNP |
| 13 | g.32355199T>G | CA387741343 | BRCA2 | c.7346T>G (p.Ile2449Ser) c.6977T>G (p.Ile2326Ser) n.7346T>G c.7250T>G (p.Ile2417Ser) | |
| 13 | g.32355200T>A | CA483439479 | BRCA2 | c.7347T>A (p.Ile2449=) c.6978T>A (p.Ile2326=) n.7347T>A c.7251T>A (p.Ile2417=) | |
| 13 | g.32355200T>C | CA16607481 | BRCA2 | c.7347T>C (p.Ile2449=) c.6978T>C (p.Ile2326=) n.7347T>C c.7251T>C (p.Ile2417=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355200T>G | CA16619760 | BRCA2 | c.7347T>G (p.Ile2449Met) c.6978T>G (p.Ile2326Met) n.7347T>G c.7251T>G (p.Ile2417Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355200T= | CA2082811087 | BRCA2 | c.7347T= (p.Ile2449=) c.6978T= (p.Ile2326=) n.7347T= c.7251T= (p.Ile2417=) | |
| 13 | g.32355201A>C | CA387741349 | BRCA2 | c.7348A>C (p.Asn2450His) c.6979A>C (p.Asn2327His) n.7348A>C c.7252A>C (p.Asn2418His) | |
| 13 | g.32355201A>G | CA387741354 | BRCA2 | c.7348A>G (p.Asn2450Asp) c.6979A>G (p.Asn2327Asp) n.7348A>G c.7252A>G (p.Asn2418Asp) | |
| 13 | g.32355201A>T | CA387741348 | BRCA2 | c.7348A>T (p.Asn2450Tyr) c.6979A>T (p.Asn2327Tyr) n.7348A>T c.7252A>T (p.Asn2418Tyr) | dbSNP |
| 13 | g.32355201_32355206delinsAATGAC | CA2082811093 | BRCA2 | c.7348_7353delinsAATGAC (p.Asn2450=) c.6979_6984delinsAATGAC (p.Asn2327=) n.7348_7353delinsAATGAC c.7252_7257delinsAATGAC (p.Asn2418=) | |
| 13 | g.32355202A= | CA2082811110 | BRCA2 | c.7349A= (p.Asn2450=) c.6980A= (p.Asn2327=) n.7349A= c.7253A= (p.Asn2418=) | |
| 13 | g.32355202A>C | CA387741357 | BRCA2 | c.7349A>C (p.Asn2450Thr) c.6980A>C (p.Asn2327Thr) n.7349A>C c.7253A>C (p.Asn2418Thr) | dbSNP |
| 13 | g.32355202A>G | CA387741358 | BRCA2 | c.7349A>G (p.Asn2450Ser) c.6980A>G (p.Asn2327Ser) n.7349A>G c.7253A>G (p.Asn2418Ser) | ClinVar dbSNP |
| 13 | g.32355202A>T | CA6941083 | BRCA2 | c.7349A>T (p.Asn2450Ile) c.6980A>T (p.Asn2327Ile) n.7349A>T c.7253A>T (p.Asn2418Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355203_32355207del | CA10586572 | BRCA2 | c.7350_7354del (p.Asn2450LysfsTer2) c.6981_6985del (p.Asn2327LysfsTer2) n.7350_7354del c.7254_7258del (p.Asn2418LysfsTer2) | ClinVar dbSNP |
| 13 | g.32355203T>A | CA387741361 | BRCA2 | c.7350T>A (p.Asn2450Lys) c.6981T>A (p.Asn2327Lys) n.7350T>A c.7254T>A (p.Asn2418Lys) | dbSNP |
| 13 | g.32355203T>C | CA6941084 | BRCA2 | c.7350T>C (p.Asn2450=) c.6981T>C (p.Asn2327=) n.7350T>C c.7254T>C (p.Asn2418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355203T>G | CA387741366 | BRCA2 | c.7350T>G (p.Asn2450Lys) c.6981T>G (p.Asn2327Lys) n.7350T>G c.7254T>G (p.Asn2418Lys) | |
| 13 | g.32355203T= | CA2082811124 | BRCA2 | c.7350T= (p.Asn2450=) c.6981T= (p.Asn2327=) n.7350T= c.7254T= (p.Asn2418=) | |
| 13 | g.32355204G>A | CA16619761 | BRCA2 | c.7351G>A (p.Asp2451Asn) c.6982G>A (p.Asp2328Asn) n.7351G>A c.7255G>A (p.Asp2419Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355204G>C | CA387741371 | BRCA2 | c.7351G>C (p.Asp2451His) c.6982G>C (p.Asp2328His) n.7351G>C c.7255G>C (p.Asp2419His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355204G= | CA2082811136 | BRCA2 | c.7351G= (p.Asp2451=) c.6982G= (p.Asp2328=) n.7351G= c.7255G= (p.Asp2419=) | |
| 13 | g.32355204G>T | CA387741369 | BRCA2 | c.7351G>T (p.Asp2451Tyr) c.6982G>T (p.Asp2328Tyr) n.7351G>T c.7255G>T (p.Asp2419Tyr) | |
| 13 | g.32355205A>C | CA387741374 | BRCA2 | c.7352A>C (p.Asp2451Ala) c.6983A>C (p.Asp2328Ala) n.7352A>C c.7256A>C (p.Asp2419Ala) | dbSNP |
| 13 | g.32355205A>G | CA387741376 | BRCA2 | c.7352A>G (p.Asp2451Gly) c.6983A>G (p.Asp2328Gly) n.7352A>G c.7256A>G (p.Asp2419Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355205A>T | CA387741379 | BRCA2 | c.7352A>T (p.Asp2451Val) c.6983A>T (p.Asp2328Val) n.7352A>T c.7256A>T (p.Asp2419Val) | dbSNP |
| 13 | g.32355206del | CA2580087435 | BRCA2 | c.7353del (p.Asp2451GlufsTer16) c.6984del (p.Asp2328GlufsTer16) n.7353del c.7353del (p.Asp2451GlufsTer18) c.7257del (p.Asp2419GlufsTer16) | ClinVar |
| 13 | g.32355206C>A | CA387741382 | BRCA2 | c.7353C>A (p.Asp2451Glu) c.6984C>A (p.Asp2328Glu) n.7353C>A c.7257C>A (p.Asp2419Glu) | ClinVar dbSNP |
| 13 | g.32355206C>G | CA387741385 | BRCA2 | c.7353C>G (p.Asp2451Glu) c.6984C>G (p.Asp2328Glu) n.7353C>G c.7257C>G (p.Asp2419Glu) | dbSNP |
| 13 | g.32355206C>T | CA483439485 | BRCA2 | c.7353C>T (p.Asp2451=) c.6984C>T (p.Asp2328=) n.7353C>T c.7257C>T (p.Asp2419=) | dbSNP |
| 13 | g.32355206_32355207delinsCA | CA2082811142 | BRCA2 | c.7353_7354delinsCA (p.Asp2451=) c.6984_6985delinsCA (p.Asp2328=) n.7353_7354delinsCA c.7257_7258delinsCA (p.Asp2419=) | |
| 13 | g.32355207A= | CA2082811152 | BRCA2 | c.7354A= (p.Asn2452=) c.6985A= (p.Asn2329=) n.7354A= c.7258A= (p.Asn2420=) | |
| 13 | g.32355207A>C | CA387741389 | BRCA2 | c.7354A>C (p.Asn2452His) c.6985A>C (p.Asn2329His) n.7354A>C c.7258A>C (p.Asn2420His) | |
| 13 | g.32355207A>G | CA025040 | BRCA2 | c.7354A>G (p.Asn2452Asp) c.6985A>G (p.Asn2329Asp) n.7354A>G c.7258A>G (p.Asn2420Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355207A>T | CA387741388 | BRCA2 | c.7354A>T (p.Asn2452Tyr) c.6985A>T (p.Asn2329Tyr) n.7354A>T c.7258A>T (p.Asn2420Tyr) | |
| 13 | g.32355208del | CA10589423 | BRCA2 | c.7355del (p.Asn2452MetfsTer15) c.6986del (p.Asn2329MetfsTer15) n.7355del c.7355del (p.Asn2452MetfsTer17) c.7259del (p.Asn2420MetfsTer15) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32355208A= | CA2082811160 | BRCA2 | c.7355A= (p.Asn2452=) c.6986A= (p.Asn2329=) n.7355A= c.7259A= (p.Asn2420=) | |
| 13 | g.32355208A>C | CA387741390 | BRCA2 | c.7355A>C (p.Asn2452Thr) c.6986A>C (p.Asn2329Thr) n.7355A>C c.7259A>C (p.Asn2420Thr) | dbSNP COSMIC COSMIC |
| 13 | g.32355208A>G | CA025041 | BRCA2 | c.7355A>G (p.Asn2452Ser) c.6986A>G (p.Asn2329Ser) n.7355A>G c.7259A>G (p.Asn2420Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355208A>T | CA387741394 | BRCA2 | c.7355A>T (p.Asn2452Ile) c.6986A>T (p.Asn2329Ile) n.7355A>T c.7259A>T (p.Asn2420Ile) | ClinVar dbSNP |
| 13 | g.32355209T>A | CA387741417 | BRCA2 | c.7356T>A (p.Asn2452Lys) c.6987T>A (p.Asn2329Lys) n.7356T>A c.7260T>A (p.Asn2420Lys) | dbSNP |
| 13 | g.32355209T>C | CA483439486 | BRCA2 | c.7356T>C (p.Asn2452=) c.6987T>C (p.Asn2329=) n.7356T>C c.7260T>C (p.Asn2420=) | ClinVar gnomAD v4 |
| 13 | g.32355209T>G | CA387741410 | BRCA2 | c.7356T>G (p.Asn2452Lys) c.6987T>G (p.Asn2329Lys) n.7356T>G c.7260T>G (p.Asn2420Lys) | dbSNP |
| 13 | g.32355209_32355228delinsAACAGTTTAAC | CA2580087437 | BRCA2 | c.7356_7375delinsAACAGTTTAAC (p.Asn2452LysfsTer4) c.6987_7006delinsAACAGTTTAAC (p.Asn2329LysfsTer4) n.7356_7375delinsAACAGTTTAAC c.7260_7279delinsAACAGTTTAAC (p.Asn2420LysfsTer4) | ClinVar |
| 13 | g.32355210G>A | CA387741425 | BRCA2 | c.7357G>A (p.Glu2453Lys) c.6988G>A (p.Glu2330Lys) n.7357G>A c.7261G>A (p.Glu2421Lys) | ClinVar dbSNP |
| 13 | g.32355210G>C | CA387741423 | BRCA2 | c.7357G>C (p.Glu2453Gln) c.6988G>C (p.Glu2330Gln) n.7357G>C c.7261G>C (p.Glu2421Gln) | dbSNP |
| 13 | g.32355210G= | CA2082811169 | BRCA2 | c.7357G= (p.Glu2453=) c.6988G= (p.Glu2330=) n.7357G= c.7261G= (p.Glu2421=) | |
| 13 | g.32355210G>T | CA387741424 | BRCA2 | c.7357G>T (p.Glu2453Ter) c.6988G>T (p.Glu2330Ter) n.7357G>T c.7261G>T (p.Glu2421Ter) | |
| 13 | g.32355211A>C | CA387741426 | BRCA2 | c.7358A>C (p.Glu2453Ala) c.6989A>C (p.Glu2330Ala) n.7358A>C c.7262A>C (p.Glu2421Ala) | ClinVar gnomAD v4 |
| 13 | g.32355211A>G | CA387741427 | BRCA2 | c.7358A>G (p.Glu2453Gly) c.6989A>G (p.Glu2330Gly) n.7358A>G c.7262A>G (p.Glu2421Gly) | |
| 13 | g.32355211A>T | CA387741430 | BRCA2 | c.7358A>T (p.Glu2453Val) c.6989A>T (p.Glu2330Val) n.7358A>T c.7262A>T (p.Glu2421Val) | dbSNP |
| 13 | g.32355212G>A | CA16606700 | BRCA2 | c.7359G>A (p.Glu2453=) c.6990G>A (p.Glu2330=) n.7359G>A c.7263G>A (p.Glu2421=) | ClinVar dbSNP |
| 13 | g.32355212G>C | CA387741433 | BRCA2 | c.7359G>C (p.Glu2453Asp) c.6990G>C (p.Glu2330Asp) n.7359G>C c.7263G>C (p.Glu2421Asp) | dbSNP |
| 13 | g.32355212G= | CA2082811182 | BRCA2 | c.7359G= (p.Glu2453=) c.6990G= (p.Glu2330=) n.7359G= c.7263G= (p.Glu2421=) | |
| 13 | g.32355212G>T | CA387741438 | BRCA2 | c.7359G>T (p.Glu2453Asp) c.6990G>T (p.Glu2330Asp) n.7359G>T c.7263G>T (p.Glu2421Asp) | dbSNP |
| 13 | g.32355212_32355213delinsGA | CA2082811178 | BRCA2 | c.7359_7360delinsGA (p.Glu2453=) c.6990_6991delinsGA (p.Glu2330=) n.7359_7360delinsGA c.7263_7264delinsGA (p.Glu2421=) | |
| 13 | g.32355213del | CA025043 | BRCA2 | c.7360del (p.Ile2454PhefsTer13) c.6991del (p.Ile2331PhefsTer13) n.7360del c.7360del (p.Ile2454PhefsTer15) c.7264del (p.Ile2422PhefsTer13) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355213A= | CA2082811203 | BRCA2 | c.7360A= (p.Ile2454=) c.6991A= (p.Ile2331=) n.7360A= c.7264A= (p.Ile2422=) | |
| 13 | g.32355213A>C | CA387741442 | BRCA2 | c.7360A>C (p.Ile2454Leu) c.6991A>C (p.Ile2331Leu) n.7360A>C c.7264A>C (p.Ile2422Leu) | dbSNP |
| 13 | g.32355213A>G | CA387741441 | BRCA2 | c.7360A>G (p.Ile2454Val) c.6991A>G (p.Ile2331Val) n.7360A>G c.7264A>G (p.Ile2422Val) | |
| 13 | g.32355213A>T | CA10579734 | BRCA2 | c.7360A>T (p.Ile2454Phe) c.6991A>T (p.Ile2331Phe) n.7360A>T c.7264A>T (p.Ile2422Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355214T>A | CA387741445 | BRCA2 | c.7361T>A (p.Ile2454Asn) c.6992T>A (p.Ile2331Asn) n.7361T>A c.7265T>A (p.Ile2422Asn) | dbSNP |
| 13 | g.32355214T>C | CA387741447 | BRCA2 | c.7361T>C (p.Ile2454Thr) c.6992T>C (p.Ile2331Thr) n.7361T>C c.7265T>C (p.Ile2422Thr) | ClinVar dbSNP |
| 13 | g.32355214T>G | CA6941085 | BRCA2 | c.7361T>G (p.Ile2454Ser) c.6992T>G (p.Ile2331Ser) n.7361T>G c.7265T>G (p.Ile2422Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355214T= | CA2082811219 | BRCA2 | c.7361T= (p.Ile2454=) c.6992T= (p.Ile2331=) n.7361T= c.7265T= (p.Ile2422=) | |
| 13 | g.32355215T>A | CA483439489 | BRCA2 | c.7362T>A (p.Ile2454=) c.6993T>A (p.Ile2331=) n.7362T>A c.7266T>A (p.Ile2422=) | ClinVar |
| 13 | g.32355215T>C | CA483439490 | BRCA2 | c.7362T>C (p.Ile2454=) c.6993T>C (p.Ile2331=) n.7362T>C c.7266T>C (p.Ile2422=) | |
| 13 | g.32355215T>G | CA387741452 | BRCA2 | c.7362T>G (p.Ile2454Met) c.6993T>G (p.Ile2331Met) n.7362T>G c.7266T>G (p.Ile2422Met) | ClinVar dbSNP |
| 13 | g.32355215T= | CA2082811233 | BRCA2 | c.7362T= (p.Ile2454=) c.6993T= (p.Ile2331=) n.7362T= c.7266T= (p.Ile2422=) | |
| 13 | g.32355215_32355216delinsTC | CA2082811231 | BRCA2 | c.7362_7363delinsTC (p.Ile2454=) c.6993_6994delinsTC (p.Ile2331=) n.7362_7363delinsTC c.7266_7267delinsTC (p.Ile2422=) | |
| 13 | g.32355215_32355216insTAGA | CA609453877 | BRCA2 | c.7362_7363insTAGA (p.His2455Ter) c.6993_6994insTAGA (p.His2332Ter) n.7362_7363insTAGA c.7266_7267insTAGA (p.His2423Ter) | gnomAD v2 |
| 13 | g.32355215_32355216insTAGACAGAAATTCTTGA | CA2528863531 | BRCA2 | c.7362_7363insTAGACAGAAATTCTTGA (p.His2455Ter) c.6993_6994insTAGACAGAAATTCTTGA (p.His2332Ter) n.7362_7363insTAGACAGAAATTCTTGA c.7266_7267insTAGACAGAAATTCTTGA (p.His2423Ter) | |
| 13 | g.32355216del | CA10589424 | BRCA2 | c.7363del (p.His2455IlefsTer12) c.6994del (p.His2332IlefsTer12) n.7363del c.7363del (p.His2455IlefsTer14) c.7267del (p.His2423IlefsTer12) | ClinVar dbSNP |
| 13 | g.32355216C>A | CA387741458 | BRCA2 | c.7363C>A (p.His2455Asn) c.6994C>A (p.His2332Asn) n.7363C>A c.7267C>A (p.His2423Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355216C>G | CA387741493 | BRCA2 | c.7363C>G (p.His2455Asp) c.6994C>G (p.His2332Asp) n.7363C>G c.7267C>G (p.His2423Asp) | |
| 13 | g.32355216C>T | CA387741487 | BRCA2 | c.7363C>T (p.His2455Tyr) c.6994C>T (p.His2332Tyr) n.7363C>T c.7267C>T (p.His2423Tyr) | |
| 13 | g.32355216dup | CA2580087438 | BRCA2 | c.7363dup (p.His2455ProfsTer4) c.6994dup (p.His2332ProfsTer4) n.7363dup c.7267dup (p.His2423ProfsTer4) | ClinVar |
| 13 | g.32355216_32355217del | CA609453878 | BRCA2 | c.7363_7364del (p.His2455SerfsTer3) c.6994_6995del (p.His2332SerfsTer3) n.7363_7364del c.7267_7268del (p.His2423SerfsTer3) | gnomAD v2 |
| 13 | g.32355217A= | CA2082811247 | BRCA2 | c.7364A= (p.His2455=) c.6995A= (p.His2332=) n.7364A= c.7268A= (p.His2423=) | |
| 13 | g.32355217A>C | CA387741501 | BRCA2 | c.7364A>C (p.His2455Pro) c.6995A>C (p.His2332Pro) n.7364A>C c.7268A>C (p.His2423Pro) | |
| 13 | g.32355217A>G | CA387741505 | BRCA2 | c.7364A>G (p.His2455Arg) c.6995A>G (p.His2332Arg) n.7364A>G c.7268A>G (p.His2423Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355217A>T | CA387741509 | BRCA2 | c.7364A>T (p.His2455Leu) c.6995A>T (p.His2332Leu) n.7364A>T c.7268A>T (p.His2423Leu) | |
| 13 | g.32355217_32355218insGAAATTC | CA609453879 | BRCA2 | c.7364_7365insGAAATTC (p.His2455GlnfsTer6) c.6995_6996insGAAATTC (p.His2332GlnfsTer6) n.7364_7365insGAAATTC c.7268_7269insGAAATTC (p.His2423GlnfsTer6) | dbSNP gnomAD v2 |
| 13 | g.32355218T>A | CA387741522 | BRCA2 | c.7365T>A (p.His2455Gln) c.6996T>A (p.His2332Gln) n.7365T>A c.7269T>A (p.His2423Gln) | ClinVar dbSNP |
| 13 | g.32355218T>C | CA483439491 | BRCA2 | c.7365T>C (p.His2455=) c.6996T>C (p.His2332=) n.7365T>C c.7269T>C (p.His2423=) | |
| 13 | g.32355218T>G | CA387741537 | BRCA2 | c.7365T>G (p.His2455Gln) c.6996T>G (p.His2332Gln) n.7365T>G c.7269T>G (p.His2423Gln) | |
| 13 | g.32355218T= | CA2082811252 | BRCA2 | c.7365T= (p.His2455=) c.6996T= (p.His2332=) n.7365T= c.7269T= (p.His2423=) | |
| 13 | g.32355218_32355219insAGA | CA609453880 | BRCA2 | c.7365_7366insAGA (p.His2455_Gln2456insArg) c.6996_6997insAGA (p.His2332_Gln2333insArg) n.7365_7366insAGA c.7269_7270insAGA (p.His2423_Gln2424insArg) | dbSNP gnomAD v2 |
| 13 | g.32355219C>A | CA387741542 | BRCA2 | c.7366C>A (p.Gln2456Lys) c.6997C>A (p.Gln2333Lys) n.7366C>A c.7270C>A (p.Gln2424Lys) | dbSNP gnomAD v4 |
| 13 | g.32355219C= | CA2082811259 | BRCA2 | c.7366C= (p.Gln2456=) c.6997C= (p.Gln2333=) n.7366C= c.7270C= (p.Gln2424=) | |
| 13 | g.32355219C>G | CA025044 | BRCA2 | c.7366C>G (p.Gln2456Glu) c.6997C>G (p.Gln2333Glu) n.7366C>G c.7270C>G (p.Gln2424Glu) | ClinVar dbSNP |
| 13 | g.32355219C>T | CA10579735 | BRCA2 | c.7366C>T (p.Gln2456Ter) c.6997C>T (p.Gln2333Ter) n.7366C>T c.7270C>T (p.Gln2424Ter) | ClinVar dbSNP |
| 13 | g.32355220A= | CA2082811286 | BRCA2 | c.7367A= (p.Gln2456=) c.6998A= (p.Gln2333=) n.7367A= c.7271A= (p.Gln2424=) | |
| 13 | g.32355220A>C | CA387741548 | BRCA2 | c.7367A>C (p.Gln2456Pro) c.6998A>C (p.Gln2333Pro) n.7367A>C c.7271A>C (p.Gln2424Pro) | ClinVar gnomAD v4 |
| 13 | g.32355220A>G | CA387741549 | BRCA2 | c.7367A>G (p.Gln2456Arg) c.6998A>G (p.Gln2333Arg) n.7367A>G c.7271A>G (p.Gln2424Arg) | ClinVar dbSNP |
| 13 | g.32355220A>T | CA387741550 | BRCA2 | c.7367A>T (p.Gln2456Leu) c.6998A>T (p.Gln2333Leu) n.7367A>T c.7271A>T (p.Gln2424Leu) | gnomAD v4 |
| 13 | g.32355220_32355224delinsAGTTT | CA2082811292 | BRCA2 | c.7367_7371delinsAGTTT (p.Gln2456=) c.6998_7002delinsAGTTT (p.Gln2333=) n.7367_7371delinsAGTTT c.7271_7275delinsAGTTT (p.Gln2424=) | |
| 13 | g.32355221G>A | CA483439492 | BRCA2 | c.7368G>A (p.Gln2456=) c.6999G>A (p.Gln2333=) n.7368G>A c.7272G>A (p.Gln2424=) | dbSNP |
| 13 | g.32355221G>C | CA387741555 | BRCA2 | c.7368G>C (p.Gln2456His) c.6999G>C (p.Gln2333His) n.7368G>C c.7272G>C (p.Gln2424His) | gnomAD v4 |
| 13 | g.32355221G= | CA2082811302 | BRCA2 | c.7368G= (p.Gln2456=) c.6999G= (p.Gln2333=) n.7368G= c.7272G= (p.Gln2424=) | |
| 13 | g.32355221G>T | CA387741552 | BRCA2 | c.7368G>T (p.Gln2456His) c.6999G>T (p.Gln2333His) n.7368G>T c.7272G>T (p.Gln2424His) | ClinVar gnomAD v4 |
| 13 | g.32355221_32355224del | CA10589425 | BRCA2 | c.7368_7371del (p.Phe2457ThrfsTer9) c.6999_7002del (p.Phe2334ThrfsTer9) n.7368_7371del c.7368_7371del (p.Phe2457ThrfsTer11) c.7272_7275del (p.Phe2425ThrfsTer9) | ClinVar dbSNP |
| 13 | g.32355221_32355222insAAA | CA609453881 | BRCA2 | c.7368_7369insAAA (p.Gln2456_Phe2457insLys) c.6999_7000insAAA (p.Gln2333_Phe2334insLys) n.7368_7369insAAA c.7272_7273insAAA (p.Gln2424_Phe2425insLys) | dbSNP gnomAD v2 |
| 13 | g.32355222T>A | CA387741558 | BRCA2 | c.7369T>A (p.Phe2457Ile) c.7000T>A (p.Phe2334Ile) n.7369T>A c.7273T>A (p.Phe2425Ile) | dbSNP |
| 13 | g.32355222T>C | CA387741560 | BRCA2 | c.7369T>C (p.Phe2457Leu) c.7000T>C (p.Phe2334Leu) n.7369T>C c.7273T>C (p.Phe2425Leu) | |
| 13 | g.32355222T>G | CA387741562 | BRCA2 | c.7369T>G (p.Phe2457Val) c.7000T>G (p.Phe2334Val) n.7369T>G c.7273T>G (p.Phe2425Val) | |
| 13 | g.32355223T>A | CA387741565 | BRCA2 | c.7370T>A (p.Phe2457Tyr) c.7001T>A (p.Phe2334Tyr) n.7370T>A c.7274T>A (p.Phe2425Tyr) | dbSNP |
| 13 | g.32355223T>C | CA387741570 | BRCA2 | c.7370T>C (p.Phe2457Ser) c.7001T>C (p.Phe2334Ser) n.7370T>C c.7274T>C (p.Phe2425Ser) | dbSNP |
| 13 | g.32355223T>G | CA10577489 | BRCA2 | c.7370T>G (p.Phe2457Cys) c.7001T>G (p.Phe2334Cys) n.7370T>G c.7274T>G (p.Phe2425Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355223T= | CA2082811314 | BRCA2 | c.7370T= (p.Phe2457=) c.7001T= (p.Phe2334=) n.7370T= c.7274T= (p.Phe2425=) | |
| 13 | g.32355224T>A | CA387741574 | BRCA2 | c.7371T>A (p.Phe2457Leu) c.7002T>A (p.Phe2334Leu) n.7371T>A c.7275T>A (p.Phe2425Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355224T>C | CA483439494 | BRCA2 | c.7371T>C (p.Phe2457=) c.7002T>C (p.Phe2334=) n.7371T>C c.7275T>C (p.Phe2425=) | |
| 13 | g.32355224T>G | CA387741576 | BRCA2 | c.7371T>G (p.Phe2457Leu) c.7002T>G (p.Phe2334Leu) n.7371T>G c.7275T>G (p.Phe2425Leu) | |
| 13 | g.32355224_32355231del | CA2499222280 | BRCA2 | c.7371_7378del (p.Phe2457LeufsTer15) c.7002_7009del (p.Phe2334LeufsTer15) n.7371_7378del c.7275_7282del (p.Phe2425LeufsTer15) | |
| 13 | g.32355225A= | CA2082811325 | BRCA2 | c.7372A= (p.Asn2458=) c.7003A= (p.Asn2335=) n.7372A= c.7276A= (p.Asn2426=) | |
| 13 | g.32355225A>C | CA387741581 | BRCA2 | c.7372A>C (p.Asn2458His) c.7003A>C (p.Asn2335His) n.7372A>C c.7276A>C (p.Asn2426His) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355225A>G | CA387741597 | BRCA2 | c.7372A>G (p.Asn2458Asp) c.7003A>G (p.Asn2335Asp) n.7372A>G c.7276A>G (p.Asn2426Asp) | |
| 13 | g.32355225A>T | CA387741600 | BRCA2 | c.7372A>T (p.Asn2458Tyr) c.7003A>T (p.Asn2335Tyr) n.7372A>T c.7276A>T (p.Asn2426Tyr) | dbSNP |
| 13 | g.32355226A= | CA2082811331 | BRCA2 | c.7373A= (p.Asn2458=) c.7004A= (p.Asn2335=) n.7373A= c.7277A= (p.Asn2426=) | |
| 13 | g.32355226A>C | CA387741605 | BRCA2 | c.7373A>C (p.Asn2458Thr) c.7004A>C (p.Asn2335Thr) n.7373A>C c.7277A>C (p.Asn2426Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355226A>G | CA025045 | BRCA2 | c.7373A>G (p.Asn2458Ser) c.7004A>G (p.Asn2335Ser) n.7373A>G c.7277A>G (p.Asn2426Ser) | ClinVar dbSNP |
| 13 | g.32355226A>T | CA387741616 | BRCA2 | c.7373A>T (p.Asn2458Ile) c.7004A>T (p.Asn2335Ile) n.7373A>T c.7277A>T (p.Asn2426Ile) | dbSNP |
| 13 | g.32355227C>A | CA387741621 | BRCA2 | c.7374C>A (p.Asn2458Lys) c.7005C>A (p.Asn2335Lys) n.7374C>A c.7278C>A (p.Asn2426Lys) | ClinVar gnomAD v4 |
| 13 | g.32355227C>G | CA387741622 | BRCA2 | c.7374C>G (p.Asn2458Lys) c.7005C>G (p.Asn2335Lys) n.7374C>G c.7278C>G (p.Asn2426Lys) | |
| 13 | g.32355227C>T | CA483439496 | BRCA2 | c.7374C>T (p.Asn2458=) c.7005C>T (p.Asn2335=) n.7374C>T c.7278C>T (p.Asn2426=) | |
| 13 | g.32355227_32355228delinsCA | CA2082811338 | BRCA2 | c.7374_7375delinsCA (p.Asn2458=) c.7005_7006delinsCA (p.Asn2335=) n.7374_7375delinsCA c.7278_7279delinsCA (p.Asn2426=) | |
| 13 | g.32355228A= | CA2082811366 | BRCA2 | c.7375A= (p.Lys2459=) c.7006A= (p.Lys2336=) n.7375A= c.7279A= (p.Lys2427=) | |
| 13 | g.32355228A>C | CA387741625 | BRCA2 | c.7375A>C (p.Lys2459Gln) c.7006A>C (p.Lys2336Gln) n.7375A>C c.7279A>C (p.Lys2427Gln) | ClinVar dbSNP |
| 13 | g.32355228A>G | CA387741629 | BRCA2 | c.7375A>G (p.Lys2459Glu) c.7006A>G (p.Lys2336Glu) n.7375A>G c.7279A>G (p.Lys2427Glu) | ClinVar dbSNP |
| 13 | g.32355228A>T | CA025046 | BRCA2 | c.7375A>T (p.Lys2459Ter) c.7006A>T (p.Lys2336Ter) n.7375A>T c.7279A>T (p.Lys2427Ter) | ClinVar dbSNP |
| 13 | g.32355232dup | CA913188635 | BRCA2 | c.7379dup (p.Asn2460LysfsTer15) c.7010dup (p.Asn2337LysfsTer15) n.7379dup c.7283dup (p.Asn2428LysfsTer15) | ClinVar dbSNP |
| 13 | g.32355232del | CA025050 | BRCA2 | c.7379del (p.Asn2460ThrfsTer7) c.7010del (p.Asn2337ThrfsTer7) n.7379del c.7379del (p.Asn2460ThrfsTer9) c.7283del (p.Asn2428ThrfsTer7) | ClinVar dbSNP |
| 13 | g.32355229A= | CA2082811389 | BRCA2 | c.7376A= (p.Lys2459=) c.7007A= (p.Lys2336=) n.7376A= c.7280A= (p.Lys2427=) | |
| 13 | g.32355229A>C | CA387741633 | BRCA2 | c.7376A>C (p.Lys2459Thr) c.7007A>C (p.Lys2336Thr) n.7376A>C c.7280A>C (p.Lys2427Thr) | dbSNP |
| 13 | g.32355229A>G | CA6941086 | BRCA2 | c.7376A>G (p.Lys2459Arg) c.7007A>G (p.Lys2336Arg) n.7376A>G c.7280A>G (p.Lys2427Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355229A>T | CA387741641 | BRCA2 | c.7376A>T (p.Lys2459Ile) c.7007A>T (p.Lys2336Ile) n.7376A>T c.7280A>T (p.Lys2427Ile) | dbSNP |
| 13 | g.32355229_32355233delinsAAAAC | CA2082811385 | BRCA2 | c.7376_7380delinsAAAAC (p.Lys2459=) c.7007_7011delinsAAAAC (p.Lys2336=) n.7376_7380delinsAAAAC c.7280_7284delinsAAAAC (p.Lys2427=) | |
| 13 | g.32355230A>C | CA387741646 | BRCA2 | c.7377A>C (p.Lys2459Asn) c.7008A>C (p.Lys2336Asn) n.7377A>C c.7281A>C (p.Lys2427Asn) | |
| 13 | g.32355230A>G | CA483439498 | BRCA2 | c.7377A>G (p.Lys2459=) c.7008A>G (p.Lys2336=) n.7377A>G c.7281A>G (p.Lys2427=) | dbSNP |
| 13 | g.32355230A>T | CA387741651 | BRCA2 | c.7377A>T (p.Lys2459Asn) c.7008A>T (p.Lys2336Asn) n.7377A>T c.7281A>T (p.Lys2427Asn) | |
| 13 | g.32355230_32355233delinsAAAC | CA2082811398 | BRCA2 | c.7377_7380delinsAAAC (p.Lys2459=) c.7008_7011delinsAAAC (p.Lys2336=) n.7377_7380delinsAAAC c.7281_7284delinsAAAC (p.Lys2427=) | |
| 13 | g.32355232_32355235del | CA025048 | BRCA2 | c.7379_7382del (p.Asn2460ThrfsTer6) c.7010_7013del (p.Asn2337ThrfsTer6) n.7379_7382del c.7379_7382del (p.Asn2460ThrfsTer8) c.7283_7286del (p.Asn2428ThrfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32355231A= | CA2082811403 | BRCA2 | c.7378A= (p.Asn2460=) c.7009A= (p.Asn2337=) n.7378A= c.7282A= (p.Asn2428=) | |
| 13 | g.32355231A>C | CA387741653 | BRCA2 | c.7378A>C (p.Asn2460His) c.7009A>C (p.Asn2337His) n.7378A>C c.7282A>C (p.Asn2428His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355231A>G | CA387741654 | BRCA2 | c.7378A>G (p.Asn2460Asp) c.7009A>G (p.Asn2337Asp) n.7378A>G c.7282A>G (p.Asn2428Asp) | dbSNP |
| 13 | g.32355231A>T | CA387741656 | BRCA2 | c.7378A>T (p.Asn2460Tyr) c.7009A>T (p.Asn2337Tyr) n.7378A>T c.7282A>T (p.Asn2428Tyr) | dbSNP |
| 13 | g.32355234_32355236del | CA915946865 | BRCA2 | c.7381_7383del (p.Asn2461del) c.7012_7014del (p.Asn2338del) n.7381_7383del c.7285_7287del (p.Asn2429del) | ClinVar dbSNP |
| 13 | g.32355231_32355232insG | CA658823736 | BRCA2 | c.7378_7379insG (p.Asn2460ArgfsTer15) c.7009_7010insG (p.Asn2337ArgfsTer15) n.7378_7379insG c.7282_7283insG (p.Asn2428ArgfsTer15) | ClinVar dbSNP |
| 13 | g.32355232A= | CA2082811431 | BRCA2 | c.7379A= (p.Asn2460=) c.7010A= (p.Asn2337=) n.7379A= c.7283A= (p.Asn2428=) | |
| 13 | g.32355232A>C | CA387741660 | BRCA2 | c.7379A>C (p.Asn2460Thr) c.7010A>C (p.Asn2337Thr) n.7379A>C c.7283A>C (p.Asn2428Thr) | dbSNP |
| 13 | g.32355232A>G | CA387741667 | BRCA2 | c.7379A>G (p.Asn2460Ser) c.7010A>G (p.Asn2337Ser) n.7379A>G c.7283A>G (p.Asn2428Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355232A>T | CA387741665 | BRCA2 | c.7379A>T (p.Asn2460Ile) c.7010A>T (p.Asn2337Ile) n.7379A>T c.7283A>T (p.Asn2428Ile) | dbSNP |
| 13 | g.32355232_32355233insG | CA025047 | BRCA2 | c.7379_7380insG (p.Asn2460LysfsTer15) c.7010_7011insG (p.Asn2337LysfsTer15) n.7379_7380insG c.7283_7284insG (p.Asn2428LysfsTer15) | ClinVar dbSNP |
| 13 | g.32355233C>A | CA387741686 | BRCA2 | c.7380C>A (p.Asn2460Lys) c.7011C>A (p.Asn2337Lys) n.7380C>A c.7284C>A (p.Asn2428Lys) | |
| 13 | g.32355233C= | CA2082811453 | BRCA2 | c.7380C= (p.Asn2460=) c.7011C= (p.Asn2337=) n.7380C= c.7284C= (p.Asn2428=) | |
| 13 | g.32355233C>G | CA387741685 | BRCA2 | c.7380C>G (p.Asn2460Lys) c.7011C>G (p.Asn2337Lys) n.7380C>G c.7284C>G (p.Asn2428Lys) | |
| 13 | g.32355233C>T | CA483439500 | BRCA2 | c.7380C>T (p.Asn2460=) c.7011C>T (p.Asn2337=) n.7380C>T c.7284C>T (p.Asn2428=) | |
| 13 | g.32355233_32355234delinsCA | CA2082811456 | BRCA2 | c.7380_7381delinsCA (p.Asn2460=) c.7011_7012delinsCA (p.Asn2337=) n.7380_7381delinsCA c.7284_7285delinsCA (p.Asn2428=) |