Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32359467_32364093del | CA2580087377 | BRCA2 | c.7805+1538_8331+560del c.7436+1538_7962+560del c.272+1538_798+560del c.7805+1538_8339+560del c.370+1538_896+560del c.7709+1538_8235+560del | ClinVar |
13 | g.32362492_32362505delinsTTATGATAATATTC | CA2082830009 | BRCA2 | c.7806-31_7806-18delinsTTATGATAATATTC (n.7806-31_7806-18delinsTTATGATAATATTC) c.7437-31_7437-18delinsTTATGATAATATTC (n.7437-31_7437-18delinsTTATGATAATATTC) c.273-31_273-18delinsTTATGATAATATTC (n.273-31_273-18delinsTTATGATAATATTC) c.7806-23_7806-10delinsTTATGATAATATTC (n.7806-23_7806-10delinsTTATGATAATATTC) c.371-31_371-18delinsTTATGATAATATTC n.7806-23_7806-10delinsTTATGATAATATTC c.7710-31_7710-18delinsTTATGATAATATTC (n.7710-31_7710-18delinsTTATGATAATATTC) | |
13 | g.32362495_32362507del | CA919242832 | BRCA2 | c.7806-28_7806-16del (n.7806-28_7806-16del) c.7437-28_7437-16del (n.7437-28_7437-16del) c.273-28_273-16del (n.273-28_273-16del) c.7806-20_7806-8del (n.7806-20_7806-8del) c.371-28_371-16del n.7806-20_7806-8del c.7710-28_7710-16del (n.7710-28_7710-16del) | dbSNP |
13 | g.32362496G>C | CA2727916303 | BRCA2 | c.7806-27G>C (n.7806-27G>C) c.7437-27G>C (n.7437-27G>C) c.273-27G>C (n.273-27G>C) c.7806-19G>C (n.7806-19G>C) c.371-27G>C n.7806-19G>C c.7710-27G>C (n.7710-27G>C) | dbSNP |
13 | g.32362496G>T | CA2622572611 | BRCA2 | c.7806-27G>T (n.7806-27G>T) c.7437-27G>T (n.7437-27G>T) c.273-27G>T (n.273-27G>T) c.7806-19G>T (n.7806-19G>T) c.371-27G>T n.7806-19G>T c.7710-27G>T (n.7710-27G>T) | dbSNP gnomAD v4 |
13 | g.32362497A= | CA2082830050 | BRCA2 | c.7806-26A= (n.7806-26A=) c.7437-26A= (n.7437-26A=) c.273-26A= (n.273-26A=) c.7806-18A= (n.7806-18A=) c.371-26A= n.7806-18A= c.7710-26A= (n.7710-26A=) | |
13 | g.32362497A>G | CA6941156 | BRCA2 | c.7806-26A>G (n.7806-26A>G) c.7437-26A>G (n.7437-26A>G) c.273-26A>G (n.273-26A>G) c.7806-18A>G (n.7806-18A>G) c.371-26A>G n.7806-18A>G c.7710-26A>G (n.7710-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362497A>T | CA2511629941 | BRCA2 | c.7806-26A>T (n.7806-26A>T) c.7437-26A>T (n.7437-26A>T) c.273-26A>T (n.273-26A>T) c.7806-18A>T (n.7806-18A>T) c.371-26A>T n.7806-18A>T c.7710-26A>T (n.7710-26A>T) | |
13 | g.32362500_32362502del | CA2798720221 | BRCA2 | c.7806-23_7806-21del (n.7806-23_7806-21del) c.7437-23_7437-21del (n.7437-23_7437-21del) c.273-23_273-21del (n.273-23_273-21del) c.7806-15_7806-13del (n.7806-15_7806-13del) c.371-23_371-21del n.7806-15_7806-13del c.7710-23_7710-21del (n.7710-23_7710-21del) | |
13 | g.32362498T>C | CA6941157 | BRCA2 | c.7806-25T>C (n.7806-25T>C) c.7437-25T>C (n.7437-25T>C) c.273-25T>C (n.273-25T>C) c.7806-17T>C (n.7806-17T>C) c.371-25T>C n.7806-17T>C c.7710-25T>C (n.7710-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362498T>G | CA2622572615 | BRCA2 | c.7806-25T>G (n.7806-25T>G) c.7437-25T>G (n.7437-25T>G) c.273-25T>G (n.273-25T>G) c.7806-17T>G (n.7806-17T>G) c.371-25T>G n.7806-17T>G c.7710-25T>G (n.7710-25T>G) | gnomAD v4 |
13 | g.32362498T= | CA2082830081 | BRCA2 | c.7806-25T= (n.7806-25T=) c.7437-25T= (n.7437-25T=) c.273-25T= (n.273-25T=) c.7806-17T= (n.7806-17T=) c.371-25T= n.7806-17T= c.7710-25T= (n.7710-25T=) | |
13 | g.32362499A= | CA2082830082 | BRCA2 | c.7806-24A= (n.7806-24A=) c.7437-24A= (n.7437-24A=) c.273-24A= (n.273-24A=) c.7806-16A= (n.7806-16A=) c.371-24A= n.7806-16A= c.7710-24A= (n.7710-24A=) | |
13 | g.32362499A>G | CA2082830083 | BRCA2 | c.7806-24A>G (n.7806-24A>G) c.7437-24A>G (n.7437-24A>G) c.273-24A>G (n.273-24A>G) c.7806-16A>G (n.7806-16A>G) c.371-24A>G n.7806-16A>G c.7710-24A>G (n.7710-24A>G) | dbSNP |
13 | g.32362501T>C | CA2727916344 | BRCA2 | c.7806-22T>C (n.7806-22T>C) c.7437-22T>C (n.7437-22T>C) c.273-22T>C (n.273-22T>C) c.7806-14T>C (n.7806-14T>C) c.371-22T>C n.7806-14T>C c.7710-22T>C (n.7710-22T>C) | dbSNP |
13 | g.32362502A= | CA2082830085 | BRCA2 | c.7806-21A= (n.7806-21A=) c.7437-21A= (n.7437-21A=) c.273-21A= (n.273-21A=) c.7806-13A= (n.7806-13A=) c.371-21A= n.7806-13A= c.7710-21A= (n.7710-21A=) | |
13 | g.32362502A>G | CA697354669 | BRCA2 | c.7806-21A>G (n.7806-21A>G) c.7437-21A>G (n.7437-21A>G) c.273-21A>G (n.273-21A>G) c.7806-13A>G (n.7806-13A>G) c.371-21A>G n.7806-13A>G c.7710-21A>G (n.7710-21A>G) | dbSNP |
13 | g.32362503T>C | CA2499222310 | BRCA2 | c.7806-20T>C (n.7806-20T>C) c.7437-20T>C (n.7437-20T>C) c.273-20T>C (n.273-20T>C) c.7806-12T>C (n.7806-12T>C) c.371-20T>C n.7806-12T>C c.7710-20T>C (n.7710-20T>C) | ClinVar dbSNP |
13 | g.32362504T>C | CA658683860 | BRCA2 | c.7806-19T>C (n.7806-19T>C) c.7437-19T>C (n.7437-19T>C) c.273-19T>C (n.273-19T>C) c.7806-11T>C (n.7806-11T>C) c.371-19T>C n.7806-11T>C c.7710-19T>C (n.7710-19T>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32362504T= | CA2082830089 | BRCA2 | c.7806-19T= (n.7806-19T=) c.7437-19T= (n.7437-19T=) c.273-19T= (n.273-19T=) c.7806-11T= (n.7806-11T=) c.371-19T= n.7806-11T= c.7710-19T= (n.7710-19T=) | |
13 | g.32362505C>A | CA2697551741 | BRCA2 | c.7806-18C>A (n.7806-18C>A) c.7437-18C>A (n.7437-18C>A) c.273-18C>A (n.273-18C>A) c.7806-10C>A (n.7806-10C>A) c.371-18C>A n.7806-10C>A c.7710-18C>A (n.7710-18C>A) | ClinVar dbSNP |
13 | g.32362505C>G | CA2573149343 | BRCA2 | c.7806-18C>G (n.7806-18C>G) c.7437-18C>G (n.7437-18C>G) c.273-18C>G (n.273-18C>G) c.7806-10C>G (n.7806-10C>G) c.371-18C>G n.7806-10C>G c.7710-18C>G (n.7710-18C>G) | ClinVar dbSNP |
13 | g.32362505C>T | CA2622572623 | BRCA2 | c.7806-18C>T (n.7806-18C>T) c.7437-18C>T (n.7437-18C>T) c.273-18C>T (n.273-18C>T) c.7806-10C>T (n.7806-10C>T) c.371-18C>T n.7806-10C>T c.7710-18C>T (n.7710-18C>T) | dbSNP gnomAD v4 |
13 | g.32362506T>C | CA2082830096 | BRCA2 | c.7806-17T>C (n.7806-17T>C) c.7437-17T>C (n.7437-17T>C) c.273-17T>C (n.273-17T>C) c.7806-9T>C (n.7806-9T>C) c.371-17T>C n.7806-9T>C c.7710-17T>C (n.7710-17T>C) | dbSNP |
13 | g.32362506T= | CA2082830094 | BRCA2 | c.7806-17T= (n.7806-17T=) c.7437-17T= (n.7437-17T=) c.273-17T= (n.273-17T=) c.7806-9T= (n.7806-9T=) c.371-17T= n.7806-9T= c.7710-17T= (n.7710-17T=) | |
13 | g.32362507A>C | CA2523751922 | BRCA2 | c.7806-16A>C (n.7806-16A>C) c.7437-16A>C (n.7437-16A>C) c.273-16A>C (n.273-16A>C) c.7806-8A>C (n.7806-8A>C) c.371-16A>C n.7806-8A>C c.7710-16A>C (n.7710-16A>C) | |
13 | g.32362507A>G | CA2566177354 | BRCA2 | c.7806-16A>G (n.7806-16A>G) c.7437-16A>G (n.7437-16A>G) c.273-16A>G (n.273-16A>G) c.7806-8A>G (n.7806-8A>G) c.371-16A>G n.7806-8A>G c.7710-16A>G (n.7710-16A>G) | |
13 | g.32362508C= | CA2082830102 | BRCA2 | c.7806-15C= (n.7806-15C=) c.7437-15C= (n.7437-15C=) c.273-15C= (n.273-15C=) c.7806-7C= (n.7806-7C=) c.371-15C= n.7806-7C= c.7710-15C= (n.7710-15C=) | |
13 | g.32362508C>G | CA2727873224 | BRCA2 | c.7806-15C>G (n.7806-15C>G) c.7437-15C>G (n.7437-15C>G) c.273-15C>G (n.273-15C>G) c.7806-7C>G (n.7806-7C>G) c.371-15C>G n.7806-7C>G c.7710-15C>G (n.7710-15C>G) | dbSNP |
13 | g.32362508C>T | CA645372560 | BRCA2 | c.7806-15C>T (n.7806-15C>T) c.7437-15C>T (n.7437-15C>T) c.273-15C>T (n.273-15C>T) c.7806-7C>T (n.7806-7C>T) c.371-15C>T n.7806-7C>T c.7710-15C>T (n.7710-15C>T) | ClinVar dbSNP |
13 | g.32362508_32362509delinsCT | CA2082830100 | BRCA2 | c.7806-15_7806-14delinsCT (n.7806-15_7806-14delinsCT) c.7437-15_7437-14delinsCT (n.7437-15_7437-14delinsCT) c.273-15_273-14delinsCT (n.273-15_273-14delinsCT) c.7806-7_7806-6delinsCT (n.7806-7_7806-6delinsCT) c.371-15_371-14delinsCT n.7806-7_7806-6delinsCT c.7710-15_7710-14delinsCT (n.7710-15_7710-14delinsCT) | |
13 | g.32362509T>A | CA2082830131 | BRCA2 | c.7806-14T>A (n.7806-14T>A) c.7437-14T>A (n.7437-14T>A) c.273-14T>A (n.273-14T>A) c.7806-6T>A (n.7806-6T>A) c.371-14T>A n.7806-6T>A c.7710-14T>A (n.7710-14T>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32362509T>C | CA025287 | BRCA2 | c.7806-14T>C (n.7806-14T>C) c.7437-14T>C (n.7437-14T>C) c.273-14T>C (n.273-14T>C) c.7806-6T>C (n.7806-6T>C) c.371-14T>C n.7806-6T>C c.7710-14T>C (n.7710-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362509T>G | CA2581130874 | BRCA2 | c.7806-14T>G (n.7806-14T>G) c.7437-14T>G (n.7437-14T>G) c.273-14T>G (n.273-14T>G) c.7806-6T>G (n.7806-6T>G) c.371-14T>G n.7806-6T>G c.7710-14T>G (n.7710-14T>G) | dbSNP |
13 | g.32362509T= | CA1630855885 | BRCA2 | c.7806-14T= (n.7806-14T=) c.7437-14T= (n.7437-14T=) c.273-14T= (n.273-14T=) c.7806-6T= (n.7806-6T=) c.371-14T= n.7806-6T= c.7710-14T= (n.7710-14T=) | |
13 | g.32362509_32362510delinsCG | CA2573149345 | BRCA2 | c.7806-14_7806-13delinsCG (n.7806-14_7806-13delinsCG) c.7437-14_7437-13delinsCG (n.7437-14_7437-13delinsCG) c.273-14_273-13delinsCG (n.273-14_273-13delinsCG) c.7806-6_7806-5delinsCG (n.7806-6_7806-5delinsCG) c.371-14_371-13delinsCG n.7806-6_7806-5delinsCG c.7710-14_7710-13delinsCG (n.7710-14_7710-13delinsCG) | ClinVar dbSNP |
13 | g.32362512del | CA6941158 | BRCA2 | c.7806-11del (n.7806-11del) c.7437-11del (n.7437-11del) c.273-11del (n.273-11del) c.7806-3del (n.7806-3del) c.371-11del n.7806-3del c.7710-11del (n.7710-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362511T>A | CA2581130875 | BRCA2 | c.7806-12T>A (n.7806-12T>A) c.7437-12T>A (n.7437-12T>A) c.273-12T>A (n.273-12T>A) c.7806-4T>A (n.7806-4T>A) c.371-12T>A n.7806-4T>A c.7710-12T>A (n.7710-12T>A) | |
13 | g.32362511T>C | CA025286 | BRCA2 | c.7806-12T>C (n.7806-12T>C) c.7437-12T>C (n.7437-12T>C) c.273-12T>C (n.273-12T>C) c.7806-4T>C (n.7806-4T>C) c.371-12T>C n.7806-4T>C c.7710-12T>C (n.7710-12T>C) | ClinVar dbSNP |
13 | g.32362511T>G | CA2581130876 | BRCA2 | c.7806-12T>G (n.7806-12T>G) c.7437-12T>G (n.7437-12T>G) c.273-12T>G (n.273-12T>G) c.7806-4T>G (n.7806-4T>G) c.371-12T>G n.7806-4T>G c.7710-12T>G (n.7710-12T>G) | |
13 | g.32362511T= | CA2082830144 | BRCA2 | c.7806-12T= (n.7806-12T=) c.7437-12T= (n.7437-12T=) c.273-12T= (n.273-12T=) c.7806-4T= (n.7806-4T=) c.371-12T= n.7806-4T= c.7710-12T= (n.7710-12T=) | |
13 | g.32362512T>C | CA2573149346 | BRCA2 | c.7806-11T>C (n.7806-11T>C) c.7437-11T>C (n.7437-11T>C) c.273-11T>C (n.273-11T>C) c.7806-3T>C (n.7806-3T>C) c.371-11T>C n.7806-3T>C c.7710-11T>C (n.7710-11T>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32362512T>G | CA6941159 | BRCA2 | c.7806-11T>G (n.7806-11T>G) c.7437-11T>G (n.7437-11T>G) c.273-11T>G (n.273-11T>G) c.7806-3T>G (n.7806-3T>G) c.371-11T>G n.7806-3T>G c.7710-11T>G (n.7710-11T>G) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32362512T= | CA2082830150 | BRCA2 | c.7806-11T= (n.7806-11T=) c.7437-11T= (n.7437-11T=) c.273-11T= (n.273-11T=) c.7806-3T= (n.7806-3T=) c.371-11T= n.7806-3T= c.7710-11T= (n.7710-11T=) | |
13 | g.32362513A= | CA2082830154 | BRCA2 | c.7806-10A= (n.7806-10A=) c.7437-10A= (n.7437-10A=) c.273-10A= (n.273-10A=) c.7806-2A= (n.7806-2A=) c.371-10A= n.7806-2A= c.7710-10A= (n.7710-10A=) | |
13 | g.32362513A>T | CA658656466 | BRCA2 | c.7806-10A>T (n.7806-10A>T) c.7437-10A>T (n.7437-10A>T) c.273-10A>T (n.273-10A>T) c.7806-2A>T (n.7806-2A>T) c.371-10A>T n.7806-2A>T c.7710-10A>T (n.7710-10A>T) | ClinVar dbSNP gnomAD v4 |
13 | g.32362514T>A | CA2580602580 | BRCA2 | c.7806-9T>A (n.7806-9T>A) c.7437-9T>A (n.7437-9T>A) c.273-9T>A (n.273-9T>A) c.7806-1T>A (n.7806-1T>A) c.371-9T>A n.7806-1T>A c.7710-9T>A (n.7710-9T>A) | |
13 | g.32362514T>C | CA2580602579 | BRCA2 | c.7806-9T>C (n.7806-9T>C) c.7437-9T>C (n.7437-9T>C) c.273-9T>C (n.273-9T>C) c.7806-1T>C (n.7806-1T>C) c.371-9T>C n.7806-1T>C c.7710-9T>C (n.7710-9T>C) | |
13 | g.32362514T>G | CA025293 | BRCA2 | c.7806-9T>G (n.7806-9T>G) c.7437-9T>G (n.7437-9T>G) c.273-9T>G (n.273-9T>G) c.7806-1T>G (n.7806-1T>G) c.371-9T>G n.7806-1T>G c.7710-9T>G (n.7710-9T>G) | ClinVar dbSNP |
13 | g.32362514T= | CA2082830160 | BRCA2 | c.7806-9T= (n.7806-9T=) c.7437-9T= (n.7437-9T=) c.273-9T= (n.273-9T=) c.7806-1T= (n.7806-1T=) c.371-9T= n.7806-1T= c.7710-9T= (n.7710-9T=) | |
13 | g.32362515T>G | CA16613939 | BRCA2 | c.7806-8T>G (n.7806-8T>G) c.7437-8T>G (n.7437-8T>G) c.273-8T>G (n.273-8T>G) c.7806T>G (p.Ser2602Arg) c.371-8T>G n.7806T>G c.7710-8T>G (n.7710-8T>G) | ClinVar dbSNP |
13 | g.32362515T= | CA2082830166 | BRCA2 | c.7806-8T= (n.7806-8T=) c.7437-8T= (n.7437-8T=) c.273-8T= (n.273-8T=) c.7806T= (p.Ser2602=) c.371-8T= n.7806T= c.7710-8T= (n.7710-8T=) | |
13 | g.32362516T>C | CA025292 | BRCA2 | c.7806-7T>C (n.7806-7T>C) c.7437-7T>C (n.7437-7T>C) c.273-7T>C (n.273-7T>C) c.7807T>C (p.Cys2603Arg) c.371-7T>C n.7807T>C c.7710-7T>C (n.7710-7T>C) | ClinVar dbSNP |
13 | g.32362516T= | CA2082830177 | BRCA2 | c.7806-7T= (n.7806-7T=) c.7437-7T= (n.7437-7T=) c.273-7T= (n.273-7T=) c.7807T= (p.Cys2603=) c.371-7T= n.7807T= c.7710-7T= (n.7710-7T=) | |
13 | g.32362516_32362517delinsTG | CA2082830200 | BRCA2 | c.7806-7_7806-6delinsTG (n.7806-7_7806-6delinsTG) c.7437-7_7437-6delinsTG (n.7437-7_7437-6delinsTG) c.273-7_273-6delinsTG (n.273-7_273-6delinsTG) c.7807_7808delinsTG (p.Cys2603=) c.371-7_371-6delinsTG n.7807_7808delinsTG c.7710-7_7710-6delinsTG (n.7710-7_7710-6delinsTG) | |
13 | g.32362517del | CA6941160 | BRCA2 | c.7806-6del (n.7806-6del) c.7437-6del (n.7437-6del) c.273-6del (n.273-6del) c.7808del (p.Cys2603PhefsTer6) c.371-6del n.7808del c.7710-6del (n.7710-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362517G>A | CA658798125 | BRCA2 | c.7806-6G>A (n.7806-6G>A) c.7437-6G>A (n.7437-6G>A) c.273-6G>A (n.273-6G>A) c.7808G>A (p.Cys2603Tyr) c.371-6G>A n.7808G>A c.7710-6G>A (n.7710-6G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32362517G>C | CA2499222311 | BRCA2 | c.7806-6G>C (n.7806-6G>C) c.7437-6G>C (n.7437-6G>C) c.273-6G>C (n.273-6G>C) c.7808G>C (p.Cys2603Ser) c.371-6G>C n.7808G>C c.7710-6G>C (n.7710-6G>C) | ClinVar dbSNP gnomAD v4 |
13 | g.32362517G= | CA2082830217 | BRCA2 | c.7806-6G= (n.7806-6G=) c.7437-6G= (n.7437-6G=) c.273-6G= (n.273-6G=) c.7808G= (p.Cys2603=) c.371-6G= n.7808G= c.7710-6G= (n.7710-6G=) | |
13 | g.32362517G>T | CA658656467 | BRCA2 | c.7806-6G>T (n.7806-6G>T) c.7437-6G>T (n.7437-6G>T) c.273-6G>T (n.273-6G>T) c.7808G>T (p.Cys2603Phe) c.371-6G>T n.7808G>T c.7710-6G>T (n.7710-6G>T) | ClinVar dbSNP gnomAD v4 |
13 | g.32362518T>A | CA2727916429 | BRCA2 | c.7806-5T>A (n.7806-5T>A) c.7437-5T>A (n.7437-5T>A) c.273-5T>A (n.273-5T>A) c.7809T>A (p.Cys2603Ter) c.371-5T>A n.7809T>A c.7710-5T>A (n.7710-5T>A) | dbSNP |
13 | g.32362518T>C | CA2573149350 | BRCA2 | c.7806-5T>C (n.7806-5T>C) c.7437-5T>C (n.7437-5T>C) c.273-5T>C (n.273-5T>C) c.7809T>C (p.Cys2603=) c.371-5T>C n.7809T>C c.7710-5T>C (n.7710-5T>C) | ClinVar dbSNP |
13 | g.32362519T>C | CA609091792 | BRCA2 | c.7806-4T>C (n.7806-4T>C) c.7437-4T>C (n.7437-4T>C) c.273-4T>C (n.273-4T>C) c.7810T>C (p.Ser2604Pro) c.371-4T>C n.7810T>C c.7710-4T>C (n.7710-4T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362519T= | CA2082830243 | BRCA2 | c.7806-4T= (n.7806-4T=) c.7437-4T= (n.7437-4T=) c.273-4T= (n.273-4T=) c.7810T= (p.Ser2604=) c.371-4T= n.7810T= c.7710-4T= (n.7710-4T=) | |
13 | g.32362520C>A | CA2622572666 | BRCA2 | c.7806-3C>A (n.7806-3C>A) c.7437-3C>A (n.7437-3C>A) c.273-3C>A (n.273-3C>A) c.7811C>A (p.Ser2604Ter) c.371-3C>A n.7811C>A c.7710-3C>A (n.7710-3C>A) | dbSNP gnomAD v4 |
13 | g.32362520C= | CA2082830249 | BRCA2 | c.7806-3C= (n.7806-3C=) c.7437-3C= (n.7437-3C=) c.273-3C= (n.273-3C=) c.7811C= (p.Ser2604=) c.371-3C= n.7811C= c.7710-3C= (n.7710-3C=) | |
13 | g.32362520C>G | CA336639 | BRCA2 | c.7806-3C>G (n.7806-3C>G) c.7437-3C>G (n.7437-3C>G) c.273-3C>G (n.273-3C>G) c.7811C>G (p.Ser2604Ter) c.371-3C>G n.7811C>G c.7710-3C>G (n.7710-3C>G) | ClinVar dbSNP |
13 | g.32362520C>T | CA2727841192 | BRCA2 | c.7806-3C>T (n.7806-3C>T) c.7437-3C>T (n.7437-3C>T) c.273-3C>T (n.273-3C>T) c.7811C>T (p.Ser2604Leu) c.371-3C>T n.7811C>T c.7710-3C>T (n.7710-3C>T) | dbSNP |
13 | g.32362521A= | CA2082830261 | BRCA2 | c.7806-2A= (n.7806-2A=) c.7437-2A= (n.7437-2A=) c.273-2A= (n.273-2A=) c.7812A= (p.Ser2604=) c.371-2A= n.7812A= c.7710-2A= (n.7710-2A=) | |
13 | g.32362521A>C | CA387746909 | BRCA2 | c.7806-2A>C (n.7806-2A>C) c.7437-2A>C (n.7437-2A>C) c.273-2A>C (n.273-2A>C) c.7812A>C (p.Ser2604=) c.371-2A>C n.7812A>C c.7710-2A>C (n.7710-2A>C) | ClinVar dbSNP |
13 | g.32362521A>G | CA025289 | BRCA2 | c.7806-2A>G (n.7806-2A>G) c.7437-2A>G (n.7437-2A>G) c.273-2A>G (n.273-2A>G) c.7812A>G (p.Ser2604=) c.371-2A>G n.7812A>G c.7710-2A>G (n.7710-2A>G) | ClinVar dbSNP |
13 | g.32362521A>T | CA10602542 | BRCA2 | c.7806-2A>T (n.7806-2A>T) c.7437-2A>T (n.7437-2A>T) c.273-2A>T (n.273-2A>T) c.7812A>T (p.Ser2604=) c.371-2A>T n.7812A>T c.7710-2A>T (n.7710-2A>T) | ClinVar dbSNP |
13 | g.32362521_32362522dup | CA915946879 | BRCA2 | c.7806-2_7806-1dup (n.7806-2_7806-1dup) c.7437-2_7437-1dup (n.7437-2_7437-1dup) c.273-2_273-1dup (n.273-2_273-1dup) c.7812_7813dup (p.Gly2605GlufsTer5) c.371-2_371-1dup n.7812_7813dup c.7710-2_7710-1dup (n.7710-2_7710-1dup) | ClinVar dbSNP |
13 | g.32362523_32362591del | CA2695217933 | BRCA2 | c.7806_7874del c.7437_7505del c.273_341del c.7814_7882del (p.Gly2605_Ile2627del) c.371_439del n.7814_7882del c.7710_7778del | |
13 | g.32362522G>A | CA387746913 | BRCA2 | c.7806-1G>A (n.7806-1G>A) c.7437-1G>A (n.7437-1G>A) c.273-1G>A (n.273-1G>A) c.7813G>A (p.Gly2605Arg) c.371-1G>A n.7813G>A c.7710-1G>A (n.7710-1G>A) | ClinVar dbSNP |
13 | g.32362522G>C | CA387746915 | BRCA2 | c.7806-1G>C (n.7806-1G>C) c.7437-1G>C (n.7437-1G>C) c.273-1G>C (n.273-1G>C) c.7813G>C (p.Gly2605Arg) c.371-1G>C n.7813G>C c.7710-1G>C (n.7710-1G>C) | ClinVar dbSNP |
13 | g.32362522G= | CA2082830273 | BRCA2 | c.7806-1G= (n.7806-1G=) c.7437-1G= (n.7437-1G=) c.273-1G= (n.273-1G=) c.7813G= (p.Gly2605=) c.371-1G= n.7813G= c.7710-1G= (n.7710-1G=) | |
13 | g.32362522G>T | CA025288 | BRCA2 | c.7806-1G>T (n.7806-1G>T) c.7437-1G>T (n.7437-1G>T) c.273-1G>T (n.273-1G>T) c.7813G>T (p.Gly2605Trp) c.371-1G>T n.7813G>T c.7710-1G>T (n.7710-1G>T) | ClinVar dbSNP |
13 | g.32362524del | CA2499222312 | BRCA2 | c.7807del c.7438del c.274del c.7815del (p.Leu2606SerfsTer3) c.372del n.7815del c.7711del | ClinVar dbSNP |
13 | g.32362523G>A | CA483260800 | BRCA2 | c.7806G>A (p.Arg2602=) c.7437G>A (p.Arg2479=) c.273G>A (p.Arg91=) c.7814G>A (p.Gly2605Glu) c.371G>A n.7814G>A c.7710G>A (p.Arg2570=) | dbSNP |
13 | g.32362523G>C | CA387746918 | BRCA2 | c.7806G>C (p.Arg2602Ser) c.7437G>C (p.Arg2479Ser) c.273G>C (p.Arg91Ser) c.7814G>C (p.Gly2605Ala) c.371G>C n.7814G>C c.7710G>C (p.Arg2570Ser) | dbSNP |
13 | g.32362523G= | CA2082830290 | BRCA2 | c.7806G= (p.Arg2602=) c.7437G= (p.Arg2479=) c.273G= (p.Arg91=) c.7814G= (p.Gly2605=) c.371G= n.7814G= c.7710G= (p.Arg2570=) | |
13 | g.32362523G>T | CA387746919 | BRCA2 | c.7806G>T (p.Arg2602Ser) c.7437G>T (p.Arg2479Ser) c.273G>T (p.Arg91Ser) c.7814G>T (p.Gly2605Val) c.371G>T n.7814G>T c.7710G>T (p.Arg2570Ser) | dbSNP |
13 | g.32362523_32362524insAG | CA025291 | BRCA2 | c.7806_7807insAG (p.Ala2603ArgfsTer?) c.7437_7438insAG (p.Ala2480ArgfsTer?) c.273_274insAG (p.Ala92ArgfsTer?) c.7814_7815insAG (p.Leu2606GlyfsTer4) c.371_372insAG n.7814_7815insAG c.7710_7711insAG (p.Ala2571ArgfsTer?) | ClinVar dbSNP |
13 | g.32362524_32362624del | CA913203499 | BRCA2 | c.7807_7907del (p.Ala2603CysfsTer4) c.7438_7538del (p.Ala2480CysfsTer4) c.274_374del (p.Ala92CysfsTer4) c.7815_7915del (p.Leu2606AlafsTer?) c.372_472del n.7815_7915del c.7711_7811del (p.Ala2571CysfsTer4) | |
13 | g.32362524G>A | CA025294 | BRCA2 | c.7807G>A (p.Ala2603Thr) c.7438G>A (p.Ala2480Thr) c.274G>A (p.Ala92Thr) c.7815G>A (p.Gly2605=) c.372G>A n.7815G>A c.7711G>A (p.Ala2571Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362524G>C | CA387746924 | BRCA2 | c.7807G>C (p.Ala2603Pro) c.7438G>C (p.Ala2480Pro) c.274G>C (p.Ala92Pro) c.7815G>C (p.Gly2605=) c.372G>C n.7815G>C c.7711G>C (p.Ala2571Pro) | ClinVar dbSNP |
13 | g.32362524G= | CA2082830305 | BRCA2 | c.7807G= (p.Ala2603=) c.7438G= (p.Ala2480=) c.274G= (p.Ala92=) c.7815G= (p.Gly2605=) c.372G= n.7815G= c.7711G= (p.Ala2571=) | |
13 | g.32362524G>T | CA16613947 | BRCA2 | c.7807G>T (p.Ala2603Ser) c.7438G>T (p.Ala2480Ser) c.274G>T (p.Ala92Ser) c.7815G>T (p.Gly2605=) c.372G>T n.7815G>T c.7711G>T (p.Ala2571Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32362525C>A | CA387746926 | BRCA2 | c.7808C>A (p.Ala2603Asp) c.7439C>A (p.Ala2480Asp) c.275C>A (p.Ala92Asp) c.7816C>A (p.Leu2606Ile) c.373C>A n.7816C>A c.7712C>A (p.Ala2571Asp) | |
13 | g.32362525C>G | CA387746928 | BRCA2 | c.7808C>G (p.Ala2603Gly) c.7439C>G (p.Ala2480Gly) c.275C>G (p.Ala92Gly) c.7816C>G (p.Leu2606Val) c.373C>G n.7816C>G c.7712C>G (p.Ala2571Gly) | dbSNP |
13 | g.32362525C>T | CA387746930 | BRCA2 | c.7808C>T (p.Ala2603Val) c.7439C>T (p.Ala2480Val) c.275C>T (p.Ala92Val) c.7816C>T (p.Leu2606Phe) c.373C>T n.7816C>T c.7712C>T (p.Ala2571Val) | ClinVar gnomAD v4 |
13 | g.32362527_32362528del | CA2622572676 | BRCA2 | c.7810_7811del (p.Leu2604ValfsTer2) c.7441_7442del (p.Leu2481ValfsTer2) c.277_278del (p.Leu93ValfsTer2) c.7818_7819del (p.Val2608AspfsTer?) c.375_376del n.7818_7819del c.7714_7715del (p.Leu2572ValfsTer2) | gnomAD v4 |
13 | g.32362526T>A | CA483260801 | BRCA2 | c.7809T>A (p.Ala2603=) c.7440T>A (p.Ala2480=) c.276T>A (p.Ala92=) c.7817T>A (p.Leu2606His) c.374T>A n.7817T>A c.7713T>A (p.Ala2571=) | dbSNP |
13 | g.32362526T>C | CA483260802 | BRCA2 | c.7809T>C (p.Ala2603=) c.7440T>C (p.Ala2480=) c.276T>C (p.Ala92=) c.7817T>C (p.Leu2606Pro) c.374T>C n.7817T>C c.7713T>C (p.Ala2571=) | |
13 | g.32362526T>G | CA483260803 | BRCA2 | c.7809T>G (p.Ala2603=) c.7440T>G (p.Ala2480=) c.276T>G (p.Ala92=) c.7817T>G (p.Leu2606Arg) c.374T>G n.7817T>G c.7713T>G (p.Ala2571=) | |
13 | g.32362527C>A | CA387746933 | BRCA2 | c.7810C>A (p.Leu2604Met) c.7441C>A (p.Leu2481Met) c.277C>A (p.Leu93Met) c.7818C>A (p.Leu2606=) c.375C>A n.7818C>A c.7714C>A (p.Leu2572Met) | |
13 | g.32362527C= | CA2082830332 | BRCA2 | c.7810C= (p.Leu2604=) c.7441C= (p.Leu2481=) c.277C= (p.Leu93=) c.7818C= (p.Leu2606=) c.375C= n.7818C= c.7714C= (p.Leu2572=) | |
13 | g.32362527C>G | CA387746935 | BRCA2 | c.7810C>G (p.Leu2604Val) c.7441C>G (p.Leu2481Val) c.277C>G (p.Leu93Val) c.7818C>G (p.Leu2606=) c.375C>G n.7818C>G c.7714C>G (p.Leu2572Val) | ClinVar dbSNP |
13 | g.32362527C>T | CA483260804 | BRCA2 | c.7810C>T (p.Leu2604=) c.7441C>T (p.Leu2481=) c.277C>T (p.Leu93=) c.7818C>T (p.Leu2606=) c.375C>T n.7818C>T c.7714C>T (p.Leu2572=) | dbSNP gnomAD v4 |
13 | g.32362527_32362529delinsCTG | CA2082830323 | BRCA2 | c.7810_7812delinsCTG (p.Leu2604=) c.7441_7443delinsCTG (p.Leu2481=) c.277_279delinsCTG (p.Leu93=) c.7818_7820delinsCTG (p.Leu2606=) c.375_377delinsCTG n.7818_7820delinsCTG c.7714_7716delinsCTG (p.Leu2572=) | |
13 | g.32362528T>A | CA387746942 | BRCA2 | c.7811T>A (p.Leu2604Gln) c.7442T>A (p.Leu2481Gln) c.278T>A (p.Leu93Gln) c.7819T>A (p.Cys2607Ser) c.376T>A n.7819T>A c.7715T>A (p.Leu2572Gln) | |
13 | g.32362528T>C | CA025295 | BRCA2 | c.7811T>C (p.Leu2604Pro) c.7442T>C (p.Leu2481Pro) c.278T>C (p.Leu93Pro) c.7819T>C (p.Cys2607Arg) c.376T>C n.7819T>C c.7715T>C (p.Leu2572Pro) | ClinVar dbSNP |
13 | g.32362528T>G | CA387746938 | BRCA2 | c.7811T>G (p.Leu2604Arg) c.7442T>G (p.Leu2481Arg) c.278T>G (p.Leu93Arg) c.7819T>G (p.Cys2607Gly) c.376T>G n.7819T>G c.7715T>G (p.Leu2572Arg) | |
13 | g.32362528T= | CA2082830343 | BRCA2 | c.7811T= (p.Leu2604=) c.7442T= (p.Leu2481=) c.278T= (p.Leu93=) c.7819T= (p.Cys2607=) c.376T= n.7819T= c.7715T= (p.Leu2572=) | |
13 | g.32362532_32362533del | CA10589452 | BRCA2 | c.7815_7816del (p.Cys2605Ter) c.7446_7447del (p.Cys2482Ter) c.282_283del (p.Cys94Ter) c.7823_7824del (p.Val2608AspfsTer?) c.380_381del n.7823_7824del c.7719_7720del (p.Cys2573Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32362530_32362533del | CA2580612213 | BRCA2 | c.7813_7816del (p.Cys2605ThrfsTer?) c.7444_7447del (p.Cys2482ThrfsTer?) c.280_283del (p.Cys94ThrfsTer?) c.7821_7824del (p.Cys2607Ter) c.378_381del n.7821_7824del c.7717_7720del (p.Cys2573ThrfsTer?) | |
13 | g.32362529G>A | CA483260805 | BRCA2 | c.7812G>A (p.Leu2604=) c.7443G>A (p.Leu2481=) c.279G>A (p.Leu93=) c.7820G>A (p.Cys2607Tyr) c.377G>A n.7820G>A c.7716G>A (p.Leu2572=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362529G>C | CA483260806 | BRCA2 | c.7812G>C (p.Leu2604=) c.7443G>C (p.Leu2481=) c.279G>C (p.Leu93=) c.7820G>C (p.Cys2607Ser) c.377G>C n.7820G>C c.7716G>C (p.Leu2572=) | ClinVar dbSNP |
13 | g.32362529G= | CA2082830352 | BRCA2 | c.7812G= (p.Leu2604=) c.7443G= (p.Leu2481=) c.279G= (p.Leu93=) c.7820G= (p.Cys2607=) c.377G= n.7820G= c.7716G= (p.Leu2572=) | |
13 | g.32362529G>T | CA483260807 | BRCA2 | c.7812G>T (p.Leu2604=) c.7443G>T (p.Leu2481=) c.279G>T (p.Leu93=) c.7820G>T (p.Cys2607Phe) c.377G>T n.7820G>T c.7716G>T (p.Leu2572=) | |
13 | g.32362530T>A | CA387746944 | BRCA2 | c.7813T>A (p.Cys2605Ser) c.7444T>A (p.Cys2482Ser) c.280T>A (p.Cys94Ser) c.7821T>A (p.Cys2607Ter) c.378T>A n.7821T>A c.7717T>A (p.Cys2573Ser) | dbSNP |
13 | g.32362530T>C | CA387746945 | BRCA2 | c.7813T>C (p.Cys2605Arg) c.7444T>C (p.Cys2482Arg) c.280T>C (p.Cys94Arg) c.7821T>C (p.Cys2607=) c.378T>C n.7821T>C c.7717T>C (p.Cys2573Arg) | |
13 | g.32362530T>G | CA387746947 | BRCA2 | c.7813T>G (p.Cys2605Gly) c.7444T>G (p.Cys2482Gly) c.280T>G (p.Cys94Gly) c.7821T>G (p.Cys2607Trp) c.378T>G n.7821T>G c.7717T>G (p.Cys2573Gly) | |
13 | g.32362531G>A | CA025296 | BRCA2 | c.7814G>A (p.Cys2605Tyr) c.7445G>A (p.Cys2482Tyr) c.281G>A (p.Cys94Tyr) c.7822G>A (p.Val2608Met) c.379G>A n.7822G>A c.7718G>A (p.Cys2573Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32362531G>C | CA387746950 | BRCA2 | c.7814G>C (p.Cys2605Ser) c.7445G>C (p.Cys2482Ser) c.281G>C (p.Cys94Ser) c.7822G>C (p.Val2608Leu) c.379G>C n.7822G>C c.7718G>C (p.Cys2573Ser) | dbSNP |
13 | g.32362531G= | CA2082830362 | BRCA2 | c.7814G= (p.Cys2605=) c.7445G= (p.Cys2482=) c.281G= (p.Cys94=) c.7822G= (p.Val2608=) c.379G= n.7822G= c.7718G= (p.Cys2573=) | |
13 | g.32362531G>T | CA387746953 | BRCA2 | c.7814G>T (p.Cys2605Phe) c.7445G>T (p.Cys2482Phe) c.281G>T (p.Cys94Phe) c.7822G>T (p.Val2608Leu) c.379G>T n.7822G>T c.7718G>T (p.Cys2573Phe) | |
13 | g.32362532T>A | CA387746955 | BRCA2 | c.7815T>A (p.Cys2605Ter) c.7446T>A (p.Cys2482Ter) c.282T>A (p.Cys94Ter) c.7823T>A (p.Val2608Glu) c.380T>A n.7823T>A c.7719T>A (p.Cys2573Ter) | dbSNP |
13 | g.32362532T>C | CA483260808 | BRCA2 | c.7815T>C (p.Cys2605=) c.7446T>C (p.Cys2482=) c.282T>C (p.Cys94=) c.7823T>C (p.Val2608Ala) c.380T>C n.7823T>C c.7719T>C (p.Cys2573=) | |
13 | g.32362532T>G | CA387746957 | BRCA2 | c.7815T>G (p.Cys2605Trp) c.7446T>G (p.Cys2482Trp) c.282T>G (p.Cys94Trp) c.7823T>G (p.Val2608Gly) c.380T>G n.7823T>G c.7719T>G (p.Cys2573Trp) | |
13 | g.32362532T= | CA2082830377 | BRCA2 | c.7815T= (p.Cys2605=) c.7446T= (p.Cys2482=) c.282T= (p.Cys94=) c.7823T= (p.Val2608=) c.380T= n.7823T= c.7719T= (p.Cys2573=) | |
13 | g.32362533G>A | CA387746960 | BRCA2 | c.7816G>A (p.Asp2606Asn) c.7447G>A (p.Asp2483Asn) c.283G>A (p.Asp95Asn) c.7824G>A (p.Val2608=) c.381G>A n.7824G>A c.7720G>A (p.Asp2574Asn) | ClinVar |
13 | g.32362533G>C | CA387746962 | BRCA2 | c.7816G>C (p.Asp2606His) c.7447G>C (p.Asp2483His) c.283G>C (p.Asp95His) c.7824G>C (p.Val2608=) c.381G>C n.7824G>C c.7720G>C (p.Asp2574His) | dbSNP |
13 | g.32362533G>T | CA387746964 | BRCA2 | c.7816G>T (p.Asp2606Tyr) c.7447G>T (p.Asp2483Tyr) c.283G>T (p.Asp95Tyr) c.7824G>T (p.Val2608=) c.381G>T n.7824G>T c.7720G>T (p.Asp2574Tyr) | COSMIC COSMIC |
13 | g.32362533dup | CA915946880 | BRCA2 | c.7816dup (p.Asp2606GlyfsTer12) c.7447dup (p.Asp2483GlyfsTer12) c.283dup (p.Asp95GlyfsTer12) c.7824dup (p.Thr2609AspfsTer?) c.381dup n.7824dup c.7720dup (p.Asp2574GlyfsTer12) | ClinVar dbSNP |
13 | g.32362533_32362536dup | CA025297 | BRCA2 | c.7816_7819dup (p.Thr2607ArgfsTer12) c.7447_7450dup (p.Thr2484ArgfsTer12) c.283_286dup (p.Thr96ArgfsTer12) c.7824_7827dup (p.Leu2610AspfsTer?) c.381_384dup n.7824_7827dup c.7720_7723dup (p.Thr2575ArgfsTer12) | ClinVar dbSNP |
13 | g.32362534A= | CA2082830391 | BRCA2 | c.7817A= (p.Asp2606=) c.7448A= (p.Asp2483=) c.284A= (p.Asp95=) c.7825A= (p.Thr2609=) c.382A= n.7825A= c.7721A= (p.Asp2574=) | |
13 | g.32362534A>C | CA387746967 | BRCA2 | c.7817A>C (p.Asp2606Ala) c.7448A>C (p.Asp2483Ala) c.284A>C (p.Asp95Ala) c.7825A>C (p.Thr2609Pro) c.382A>C n.7825A>C c.7721A>C (p.Asp2574Ala) | |
13 | g.32362534A>G | CA387746968 | BRCA2 | c.7817A>G (p.Asp2606Gly) c.7448A>G (p.Asp2483Gly) c.284A>G (p.Asp95Gly) c.7825A>G (p.Thr2609Ala) c.382A>G n.7825A>G c.7721A>G (p.Asp2574Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32362534A>T | CA387746971 | BRCA2 | c.7817A>T (p.Asp2606Val) c.7448A>T (p.Asp2483Val) c.284A>T (p.Asp95Val) c.7825A>T (p.Thr2609Ser) c.382A>T n.7825A>T c.7721A>T (p.Asp2574Val) | dbSNP |
13 | g.32362536_32362537del | CA2580614673 | BRCA2 | c.7819_7820del (p.Thr2607SerfsTer10) c.7450_7451del (p.Thr2484SerfsTer10) c.286_287del (p.Thr96SerfsTer10) c.7827_7828del (p.Leu2610ProfsTer?) c.384_385del n.7827_7828del c.7723_7724del (p.Thr2575SerfsTer10) | ClinVar dbSNP |
13 | g.32362535C>A | CA387746973 | BRCA2 | c.7818C>A (p.Asp2606Glu) c.7449C>A (p.Asp2483Glu) c.285C>A (p.Asp95Glu) c.7826C>A (p.Thr2609Lys) c.383C>A n.7826C>A c.7722C>A (p.Asp2574Glu) | |
13 | g.32362535C= | CA2082830409 | BRCA2 | c.7818C= (p.Asp2606=) c.7449C= (p.Asp2483=) c.285C= (p.Asp95=) c.7826C= (p.Thr2609=) c.383C= n.7826C= c.7722C= (p.Asp2574=) | |
13 | g.32362535C>G | CA387746974 | BRCA2 | c.7818C>G (p.Asp2606Glu) c.7449C>G (p.Asp2483Glu) c.285C>G (p.Asp95Glu) c.7826C>G (p.Thr2609Arg) c.383C>G n.7826C>G c.7722C>G (p.Asp2574Glu) | dbSNP |
13 | g.32362535C>T | CA483260809 | BRCA2 | c.7818C>T (p.Asp2606=) c.7449C>T (p.Asp2483=) c.285C>T (p.Asp95=) c.7826C>T (p.Thr2609Ile) c.383C>T n.7826C>T c.7722C>T (p.Asp2574=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362535_32362536delinsCA | CA2082830407 | BRCA2 | c.7818_7819delinsCA (p.Asp2606=) c.7449_7450delinsCA (p.Asp2483=) c.285_286delinsCA (p.Asp95=) c.7826_7827delinsCA (p.Thr2609=) c.383_384delinsCA n.7826_7827delinsCA c.7722_7723delinsCA (p.Asp2574=) | |
13 | g.32362536del | CA16613949 | BRCA2 | c.7819del (p.Thr2607LeufsTer?) c.7450del (p.Thr2484LeufsTer?) c.286del (p.Thr96LeufsTer?) c.7827del (p.Leu2610SerfsTer10) c.384del n.7827del c.7723del (p.Thr2575LeufsTer?) | ClinVar dbSNP |
13 | g.32362536A= | CA2082830442 | BRCA2 | c.7819A= (p.Thr2607=) c.7450A= (p.Thr2484=) c.286A= (p.Thr96=) c.7827A= (p.Thr2609=) c.384A= n.7827A= c.7723A= (p.Thr2575=) | |
13 | g.32362536A>C | CA025298 | BRCA2 | c.7819A>C (p.Thr2607Pro) c.7450A>C (p.Thr2484Pro) c.286A>C (p.Thr96Pro) c.7827A>C (p.Thr2609=) c.384A>C n.7827A>C c.7723A>C (p.Thr2575Pro) | ClinVar dbSNP |
13 | g.32362536A>G | CA025299 | BRCA2 | c.7819A>G (p.Thr2607Ala) c.7450A>G (p.Thr2484Ala) c.286A>G (p.Thr96Ala) c.7827A>G (p.Thr2609=) c.384A>G n.7827A>G c.7723A>G (p.Thr2575Ala) | ClinVar dbSNP |
13 | g.32362536A>T | CA387746979 | BRCA2 | c.7819A>T (p.Thr2607Ser) c.7450A>T (p.Thr2484Ser) c.286A>T (p.Thr96Ser) c.7827A>T (p.Thr2609=) c.384A>T n.7827A>T c.7723A>T (p.Thr2575Ser) | dbSNP |
13 | g.32362536_32362538delinsCCC | CA2825002142 | BRCA2 | c.7819_7821delinsCCC (p.Thr2607Pro) c.7450_7452delinsCCC (p.Thr2484Pro) c.286_288delinsCCC (p.Thr96Pro) c.7827_7829delinsCCC (p.Leu2610Pro) c.384_386delinsCCC n.7827_7829delinsCCC c.7723_7725delinsCCC (p.Thr2575Pro) | ClinVar |
13 | g.32362537C>A | CA387746981 | BRCA2 | c.7820C>A (p.Thr2607Asn) c.7451C>A (p.Thr2484Asn) c.287C>A (p.Thr96Asn) c.7828C>A (p.Leu2610Ile) c.385C>A n.7828C>A c.7724C>A (p.Thr2575Asn) | |
13 | g.32362537C= | CA2082830453 | BRCA2 | c.7820C= (p.Thr2607=) c.7451C= (p.Thr2484=) c.287C= (p.Thr96=) c.7828C= (p.Leu2610=) c.385C= n.7828C= c.7724C= (p.Thr2575=) | |
13 | g.32362537C>G | CA387746984 | BRCA2 | c.7820C>G (p.Thr2607Ser) c.7451C>G (p.Thr2484Ser) c.287C>G (p.Thr96Ser) c.7828C>G (p.Leu2610Val) c.385C>G n.7828C>G c.7724C>G (p.Thr2575Ser) | dbSNP |
13 | g.32362537C>T | CA387746983 | BRCA2 | c.7820C>T (p.Thr2607Ile) c.7451C>T (p.Thr2484Ile) c.287C>T (p.Thr96Ile) c.7828C>T (p.Leu2610Phe) c.385C>T n.7828C>T c.7724C>T (p.Thr2575Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32362538del | CA483260813 | BRCA2 | c.7821del (p.Pro2608GlnfsTer?) c.7452del (p.Pro2485GlnfsTer?) c.288del (p.Pro97GlnfsTer?) c.7829del (p.Leu2610ProfsTer10) c.386del n.7829del c.7725del (p.Pro2576GlnfsTer?) | COSMIC |
13 | g.32362538T>A | CA483260810 | BRCA2 | c.7821T>A (p.Thr2607=) c.7452T>A (p.Thr2484=) c.288T>A (p.Thr96=) c.7829T>A (p.Leu2610His) c.386T>A n.7829T>A c.7725T>A (p.Thr2575=) | |
13 | g.32362538T>C | CA483260811 | BRCA2 | c.7821T>C (p.Thr2607=) c.7452T>C (p.Thr2484=) c.288T>C (p.Thr96=) c.7829T>C (p.Leu2610Pro) c.386T>C n.7829T>C c.7725T>C (p.Thr2575=) | ClinVar dbSNP |
13 | g.32362538T>G | CA483260812 | BRCA2 | c.7821T>G (p.Thr2607=) c.7452T>G (p.Thr2484=) c.288T>G (p.Thr96=) c.7829T>G (p.Leu2610Arg) c.386T>G n.7829T>G c.7725T>G (p.Thr2575=) | |
13 | g.32362538T= | CA2082830471 | BRCA2 | c.7821T= (p.Thr2607=) c.7452T= (p.Thr2484=) c.288T= (p.Thr96=) c.7829T= (p.Leu2610=) c.386T= n.7829T= c.7725T= (p.Thr2575=) | |
13 | g.32362539C>A | CA387746987 | BRCA2 | c.7822C>A (p.Pro2608Thr) c.7453C>A (p.Pro2485Thr) c.289C>A (p.Pro97Thr) c.7830C>A (p.Leu2610=) c.387C>A n.7830C>A c.7726C>A (p.Pro2576Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362539C= | CA2082830486 | BRCA2 | c.7822C= (p.Pro2608=) c.7453C= (p.Pro2485=) c.289C= (p.Pro97=) c.7830C= (p.Leu2610=) c.387C= n.7830C= c.7726C= (p.Pro2576=) | |
13 | g.32362539C>G | CA10585900 | BRCA2 | c.7822C>G (p.Pro2608Ala) c.7453C>G (p.Pro2485Ala) c.289C>G (p.Pro97Ala) c.7830C>G (p.Leu2610=) c.387C>G n.7830C>G c.7726C>G (p.Pro2576Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362539C>T | CA387746989 | BRCA2 | c.7822C>T (p.Pro2608Ser) c.7453C>T (p.Pro2485Ser) c.289C>T (p.Pro97Ser) c.7830C>T (p.Leu2610=) c.387C>T n.7830C>T c.7726C>T (p.Pro2576Ser) | dbSNP COSMIC COSMIC |
13 | g.32362540dup | CA16614005 | BRCA2 | c.7823dup (p.Gly2609ArgfsTer9) c.7454dup (p.Gly2486ArgfsTer9) c.290dup (p.Gly98ArgfsTer9) c.7831dup (p.Gln2611ProfsTer?) c.388dup n.7831dup c.7727dup (p.Gly2577ArgfsTer9) | ClinVar dbSNP |
13 | g.32362540C>A | CA387746992 | BRCA2 | c.7823C>A (p.Pro2608Gln) c.7454C>A (p.Pro2485Gln) c.290C>A (p.Pro97Gln) c.7831C>A (p.Gln2611Lys) c.388C>A n.7831C>A c.7727C>A (p.Pro2576Gln) | ClinVar dbSNP gnomAD v4 |
13 | g.32362540C= | CA2082830501 | BRCA2 | c.7823C= (p.Pro2608=) c.7454C= (p.Pro2485=) c.290C= (p.Pro97=) c.7831C= (p.Gln2611=) c.388C= n.7831C= c.7727C= (p.Pro2576=) | |
13 | g.32362540C>G | CA387746995 | BRCA2 | c.7823C>G (p.Pro2608Arg) c.7454C>G (p.Pro2485Arg) c.290C>G (p.Pro97Arg) c.7831C>G (p.Gln2611Glu) c.388C>G n.7831C>G c.7727C>G (p.Pro2576Arg) | dbSNP |
13 | g.32362540C>T | CA387746994 | BRCA2 | c.7823C>T (p.Pro2608Leu) c.7454C>T (p.Pro2485Leu) c.290C>T (p.Pro97Leu) c.7831C>T (p.Gln2611Ter) c.388C>T n.7831C>T c.7727C>T (p.Pro2576Leu) | ClinVar dbSNP |
13 | g.32362541A>C | CA483260814 | BRCA2 | c.7824A>C (p.Pro2608=) c.7455A>C (p.Pro2485=) c.291A>C (p.Pro97=) c.7832A>C (p.Gln2611Pro) c.389A>C n.7832A>C c.7728A>C (p.Pro2576=) | |
13 | g.32362541A>G | CA483260815 | BRCA2 | c.7824A>G (p.Pro2608=) c.7455A>G (p.Pro2485=) c.291A>G (p.Pro97=) c.7832A>G (p.Gln2611Arg) c.389A>G n.7832A>G c.7728A>G (p.Pro2576=) | ClinVar dbSNP |
13 | g.32362541A>T | CA483260816 | BRCA2 | c.7824A>T (p.Pro2608=) c.7455A>T (p.Pro2485=) c.291A>T (p.Pro97=) c.7832A>T (p.Gln2611Leu) c.389A>T n.7832A>T c.7728A>T (p.Pro2576=) | dbSNP |
13 | g.32362542G>A | CA387746996 | BRCA2 | c.7825G>A (p.Gly2609Ser) c.7456G>A (p.Gly2486Ser) c.292G>A (p.Gly98Ser) c.7833G>A (p.Gln2611=) c.390G>A n.7833G>A c.7729G>A (p.Gly2577Ser) | ClinVar dbSNP |
13 | g.32362542G>C | CA387746997 | BRCA2 | c.7825G>C (p.Gly2609Arg) c.7456G>C (p.Gly2486Arg) c.292G>C (p.Gly98Arg) c.7833G>C (p.Gln2611His) c.390G>C n.7833G>C c.7729G>C (p.Gly2577Arg) | dbSNP |
13 | g.32362542G>T | CA387746998 | BRCA2 | c.7825G>T (p.Gly2609Cys) c.7456G>T (p.Gly2486Cys) c.292G>T (p.Gly98Cys) c.7833G>T (p.Gln2611His) c.390G>T n.7833G>T c.7729G>T (p.Gly2577Cys) | |
13 | g.32362543G>A | CA025300 | BRCA2 | c.7826G>A (p.Gly2609Asp) c.7457G>A (p.Gly2486Asp) c.293G>A (p.Gly98Asp) c.7834G>A (p.Val2612Met) c.391G>A n.7834G>A c.7730G>A (p.Gly2577Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32362543G>C | CA025301 | BRCA2 | c.7826G>C (p.Gly2609Ala) c.7457G>C (p.Gly2486Ala) c.293G>C (p.Gly98Ala) c.7834G>C (p.Val2612Leu) c.391G>C n.7834G>C c.7730G>C (p.Gly2577Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32362543G= | CA2082830516 | BRCA2 | c.7826G= (p.Gly2609=) c.7457G= (p.Gly2486=) c.293G= (p.Gly98=) c.7834G= (p.Val2612=) c.391G= n.7834G= c.7730G= (p.Gly2577=) | |
13 | g.32362543G>T | CA10579757 | BRCA2 | c.7826G>T (p.Gly2609Val) c.7457G>T (p.Gly2486Val) c.293G>T (p.Gly98Val) c.7834G>T (p.Val2612Leu) c.391G>T n.7834G>T c.7730G>T (p.Gly2577Val) | ClinVar dbSNP |
13 | g.32362544T>A | CA483260817 | BRCA2 | c.7827T>A (p.Gly2609=) c.7458T>A (p.Gly2486=) c.294T>A (p.Gly98=) c.7835T>A (p.Val2612Glu) c.392T>A n.7835T>A c.7731T>A (p.Gly2577=) | ClinVar |
13 | g.32362544T>C | CA483260819 | BRCA2 | c.7827T>C (p.Gly2609=) c.7458T>C (p.Gly2486=) c.294T>C (p.Gly98=) c.7835T>C (p.Val2612Ala) c.392T>C n.7835T>C c.7731T>C (p.Gly2577=) | ClinVar dbSNP |
13 | g.32362544T>G | CA483260818 | BRCA2 | c.7827T>G (p.Gly2609=) c.7458T>G (p.Gly2486=) c.294T>G (p.Gly98=) c.7835T>G (p.Val2612Gly) c.392T>G n.7835T>G c.7731T>G (p.Gly2577=) | |
13 | g.32362544dup | CA2580087394 | BRCA2 | c.7827dup (p.Val2610CysfsTer8) c.7458dup (p.Val2487CysfsTer8) c.294dup (p.Val99CysfsTer8) c.7835dup (p.Trp2613ValfsTer?) c.392dup n.7835dup c.7731dup (p.Val2578CysfsTer8) | ClinVar |
13 | g.32362545G>A | CA025302 | BRCA2 | c.7828G>A (p.Val2610Met) c.7459G>A (p.Val2487Met) c.295G>A (p.Val99Met) c.7836G>A (p.Val2612=) c.393G>A n.7836G>A c.7732G>A (p.Val2578Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32362545G>C | CA387746999 | BRCA2 | c.7828G>C (p.Val2610Leu) c.7459G>C (p.Val2487Leu) c.295G>C (p.Val99Leu) c.7836G>C (p.Val2612=) c.393G>C n.7836G>C c.7732G>C (p.Val2578Leu) | dbSNP |
13 | g.32362545G= | CA2082830530 | BRCA2 | c.7828G= (p.Val2610=) c.7459G= (p.Val2487=) c.295G= (p.Val99=) c.7836G= (p.Val2612=) c.393G= n.7836G= c.7732G= (p.Val2578=) | |
13 | g.32362545G>T | CA387747000 | BRCA2 | c.7828G>T (p.Val2610Leu) c.7459G>T (p.Val2487Leu) c.295G>T (p.Val99Leu) c.7836G>T (p.Val2612=) c.393G>T n.7836G>T c.7732G>T (p.Val2578Leu) | dbSNP |
13 | g.32362545_32362551del | CA2695217937 | BRCA2 | c.7828_7834del (p.Val2610GlnfsTer?) c.7459_7465del (p.Val2487GlnfsTer?) c.295_301del (p.Val99GlnfsTer?) c.7836_7842del (p.Trp2613LysfsTer5) c.393_399del n.7836_7842del c.7732_7738del (p.Val2578GlnfsTer?) | |
13 | g.32362546T>A | CA387747001 | BRCA2 | c.7829T>A (p.Val2610Glu) c.7460T>A (p.Val2487Glu) c.296T>A (p.Val99Glu) c.7837T>A (p.Trp2613Arg) c.394T>A n.7837T>A c.7733T>A (p.Val2578Glu) | |
13 | g.32362546T>C | CA387747002 | BRCA2 | c.7829T>C (p.Val2610Ala) c.7460T>C (p.Val2487Ala) c.296T>C (p.Val99Ala) c.7837T>C (p.Trp2613Arg) c.394T>C n.7837T>C c.7733T>C (p.Val2578Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362546T>G | CA387747003 | BRCA2 | c.7829T>G (p.Val2610Gly) c.7460T>G (p.Val2487Gly) c.296T>G (p.Val99Gly) c.7837T>G (p.Trp2613Gly) c.394T>G n.7837T>G c.7733T>G (p.Val2578Gly) | |
13 | g.32362546T= | CA2082830542 | BRCA2 | c.7829T= (p.Val2610=) c.7460T= (p.Val2487=) c.296T= (p.Val99=) c.7837T= (p.Trp2613=) c.394T= n.7837T= c.7733T= (p.Val2578=) | |
13 | g.32362546dup | CA645509331 | BRCA2 | c.7829dup (p.Asp2611GlyfsTer7) c.7460dup (p.Asp2488GlyfsTer7) c.296dup (p.Asp100GlyfsTer7) c.7837dup (p.Trp2613LeufsTer?) c.394dup n.7837dup c.7733dup (p.Asp2579GlyfsTer7) | ClinVar dbSNP |
13 | g.32362547G>A | CA025303 | BRCA2 | c.7830G>A (p.Val2610=) c.7461G>A (p.Val2487=) c.297G>A (p.Val99=) c.7838G>A (p.Trp2613Ter) c.395G>A n.7838G>A c.7734G>A (p.Val2578=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362547G>C | CA483260820 | BRCA2 | c.7830G>C (p.Val2610=) c.7461G>C (p.Val2487=) c.297G>C (p.Val99=) c.7838G>C (p.Trp2613Ser) c.395G>C n.7838G>C c.7734G>C (p.Val2578=) | |
13 | g.32362547G= | CA2082830553 | BRCA2 | c.7830G= (p.Val2610=) c.7461G= (p.Val2487=) c.297G= (p.Val99=) c.7838G= (p.Trp2613=) c.395G= n.7838G= c.7734G= (p.Val2578=) | |
13 | g.32362547G>T | CA16614216 | BRCA2 | c.7830G>T (p.Val2610=) c.7461G>T (p.Val2487=) c.297G>T (p.Val99=) c.7838G>T (p.Trp2613Leu) c.395G>T n.7838G>T c.7734G>T (p.Val2578=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362548G>A | CA387747004 | BRCA2 | c.7831G>A (p.Asp2611Asn) c.7462G>A (p.Asp2488Asn) c.298G>A (p.Asp100Asn) c.7839G>A (p.Trp2613Ter) c.396G>A n.7839G>A c.7735G>A (p.Asp2579Asn) | ClinVar dbSNP |
13 | g.32362548G>C | CA387747005 | BRCA2 | c.7831G>C (p.Asp2611His) c.7462G>C (p.Asp2488His) c.298G>C (p.Asp100His) c.7839G>C (p.Trp2613Cys) c.396G>C n.7839G>C c.7735G>C (p.Asp2579His) | dbSNP |
13 | g.32362548G= | CA2082830564 | BRCA2 | c.7831G= (p.Asp2611=) c.7462G= (p.Asp2488=) c.298G= (p.Asp100=) c.7839G= (p.Trp2613=) c.396G= n.7839G= c.7735G= (p.Asp2579=) | |
13 | g.32362548G>T | CA387747006 | BRCA2 | c.7831G>T (p.Asp2611Tyr) c.7462G>T (p.Asp2488Tyr) c.298G>T (p.Asp100Tyr) c.7839G>T (p.Trp2613Cys) c.396G>T n.7839G>T c.7735G>T (p.Asp2579Tyr) | dbSNP |
13 | g.32362548_32362554delinsGATCCAA | CA2082830572 | BRCA2 | c.7831_7837delinsGATCCAA (p.Asp2611=) c.7462_7468delinsGATCCAA (p.Asp2488=) c.298_304delinsGATCCAA (p.Asp100=) c.7839_7845delinsGATCCAA (p.Trp2613=) c.396_402delinsGATCCAA n.7839_7845delinsGATCCAA c.7735_7741delinsGATCCAA (p.Asp2579=) | |
13 | g.32362549A= | CA2082830588 | BRCA2 | c.7832A= (p.Asp2611=) c.7463A= (p.Asp2488=) c.299A= (p.Asp100=) c.7840A= (p.Ile2614=) c.397A= n.7840A= c.7736A= (p.Asp2579=) | |
13 | g.32362549A>C | CA387747007 | BRCA2 | c.7832A>C (p.Asp2611Ala) c.7463A>C (p.Asp2488Ala) c.299A>C (p.Asp100Ala) c.7840A>C (p.Ile2614Leu) c.397A>C n.7840A>C c.7736A>C (p.Asp2579Ala) | |
13 | g.32362549A>G | CA025304 | BRCA2 | c.7832A>G (p.Asp2611Gly) c.7463A>G (p.Asp2488Gly) c.299A>G (p.Asp100Gly) c.7840A>G (p.Ile2614Val) c.397A>G n.7840A>G c.7736A>G (p.Asp2579Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362549A>T | CA387747008 | BRCA2 | c.7832A>T (p.Asp2611Val) c.7463A>T (p.Asp2488Val) c.299A>T (p.Asp100Val) c.7840A>T (p.Ile2614Phe) c.397A>T n.7840A>T c.7736A>T (p.Asp2579Val) | |
13 | g.32362550_32362555del | CA954700246 | BRCA2 | c.7833_7838del (p.Asp2611_Lys2613delinsGlu) c.7464_7469del (p.Asp2488_Lys2490delinsGlu) c.300_305del (p.Asp100_Lys102delinsGlu) c.7841_7846del (p.Ile2614_Gln2615del) c.398_403del n.7841_7846del c.7737_7742del (p.Asp2579_Lys2581delinsGlu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362549_32362559delinsATCCAAAGCTT | CA2082830580 | BRCA2 | c.7832_7842delinsATCCAAAGCTT (p.Asp2611=) c.7463_7473delinsATCCAAAGCTT (p.Asp2488=) c.299_309delinsATCCAAAGCTT (p.Asp100=) c.7840_7850delinsATCCAAAGCTT (p.Ile2614=) c.397_407delinsATCCAAAGCTT n.7840_7850delinsATCCAAAGCTT c.7736_7746delinsATCCAAAGCTT (p.Asp2579=) | |
13 | g.32362549_32362560delinsATCCAAAGCTTA | CA2082830583 | BRCA2 | c.7832_7843delinsATCCAAAGCTTA (p.Asp2611=) c.7463_7474delinsATCCAAAGCTTA (p.Asp2488=) c.299_310delinsATCCAAAGCTTA (p.Asp100=) c.7840_7851delinsATCCAAAGCTTA (p.Ile2614=) c.397_408delinsATCCAAAGCTTA n.7840_7851delinsATCCAAAGCTTA c.7736_7747delinsATCCAAAGCTTA (p.Asp2579=) | |
13 | g.32362549_32362564delinsATCCAAAGCTTATTTC | CA2082830581 | BRCA2 | c.7832_7847delinsATCCAAAGCTTATTTC (p.Asp2611=) c.7463_7478delinsATCCAAAGCTTATTTC (p.Asp2488=) c.299_314delinsATCCAAAGCTTATTTC (p.Asp100=) c.7840_7855delinsATCCAAAGCTTATTTC (p.Ile2614=) c.397_412delinsATCCAAAGCTTATTTC n.7840_7855delinsATCCAAAGCTTATTTC c.7736_7751delinsATCCAAAGCTTATTTC (p.Asp2579=) | |
13 | g.32362550T>A | CA387747009 | BRCA2 | c.7833T>A (p.Asp2611Glu) c.7464T>A (p.Asp2488Glu) c.300T>A (p.Asp100Glu) c.7841T>A (p.Ile2614Asn) c.398T>A n.7841T>A c.7737T>A (p.Asp2579Glu) | dbSNP |
13 | g.32362550T>C | CA483260821 | BRCA2 | c.7833T>C (p.Asp2611=) c.7464T>C (p.Asp2488=) c.300T>C (p.Asp100=) c.7841T>C (p.Ile2614Thr) c.398T>C n.7841T>C c.7737T>C (p.Asp2579=) | |
13 | g.32362550T>G | CA387747010 | BRCA2 | c.7833T>G (p.Asp2611Glu) c.7464T>G (p.Asp2488Glu) c.300T>G (p.Asp100Glu) c.7841T>G (p.Ile2614Ser) c.398T>G n.7841T>G c.7737T>G (p.Asp2579Glu) | |
13 | g.32362550_32362551delinsTC | CA2082830622 | BRCA2 | c.7833_7834delinsTC (p.Asp2611=) c.7464_7465delinsTC (p.Asp2488=) c.300_301delinsTC (p.Asp100=) c.7841_7842delinsTC (p.Ile2614=) c.398_399delinsTC n.7841_7842delinsTC c.7737_7738delinsTC (p.Asp2579=) | |
13 | g.32362550_32362559del | CA697354848 | BRCA2 | c.7833_7842del (p.Asp2611GlufsTer?) c.7464_7473del (p.Asp2488GlufsTer?) c.300_309del (p.Asp100GlufsTer?) c.7841_7850del (p.Ile2614AsnfsTer3) c.398_407del n.7841_7850del c.7737_7746del (p.Asp2579GlufsTer?) | dbSNP |
13 | g.32362550_32362560delinsG | CA658656477 | BRCA2 | c.7833_7843delinsG (p.Asp2611GlufsTer?) c.7464_7474delinsG (p.Asp2488GlufsTer?) c.300_310delinsG (p.Asp100GlufsTer?) c.7841_7851delinsG (p.Ile2614SerfsTer3) c.398_408delinsG n.7841_7851delinsG c.7737_7747delinsG (p.Asp2579GlufsTer?) | ClinVar dbSNP |
13 | g.32362550_32362564delinsGTTTA | CA916080523 | BRCA2 | c.7833_7847delinsGTTTA (p.Asp2611GlufsTer?) c.7464_7478delinsGTTTA (p.Asp2488GlufsTer?) c.300_314delinsGTTTA (p.Asp100GlufsTer?) c.7841_7855delinsGTTTA (p.Ile2614SerfsTer3) c.398_412delinsGTTTA n.7841_7855delinsGTTTA c.7737_7751delinsGTTTA (p.Asp2579GlufsTer?) | ClinVar dbSNP |
13 | g.32362551C>A | CA387747011 | BRCA2 | c.7834C>A (p.Pro2612Thr) c.7465C>A (p.Pro2489Thr) c.301C>A (p.Pro101Thr) c.7842C>A (p.Ile2614=) c.399C>A n.7842C>A c.7738C>A (p.Pro2580Thr) | dbSNP gnomAD v4 |
13 | g.32362551C= | CA2082830636 | BRCA2 | c.7834C= (p.Pro2612=) c.7465C= (p.Pro2489=) c.301C= (p.Pro101=) c.7842C= (p.Ile2614=) c.399C= n.7842C= c.7738C= (p.Pro2580=) | |
13 | g.32362551C>G | CA387747012 | BRCA2 | c.7834C>G (p.Pro2612Ala) c.7465C>G (p.Pro2489Ala) c.301C>G (p.Pro101Ala) c.7842C>G (p.Ile2614Met) c.399C>G n.7842C>G c.7738C>G (p.Pro2580Ala) | dbSNP |
13 | g.32362551C>T | CA6941161 | BRCA2 | c.7834C>T (p.Pro2612Ser) c.7465C>T (p.Pro2489Ser) c.301C>T (p.Pro101Ser) c.7842C>T (p.Ile2614=) c.399C>T n.7842C>T c.7738C>T (p.Pro2580Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362552del | CA919242940 | BRCA2 | c.7835del (p.Pro2612GlnfsTer?) c.7466del (p.Pro2489GlnfsTer?) c.302del (p.Pro101GlnfsTer?) c.7843del (p.Gln2615LysfsTer5) c.400del n.7843del c.7739del (p.Pro2580GlnfsTer?) | dbSNP |
13 | g.32362552C>A | CA387747015 | BRCA2 | c.7835C>A (p.Pro2612Gln) c.7466C>A (p.Pro2489Gln) c.302C>A (p.Pro101Gln) c.7843C>A (p.Gln2615Lys) c.400C>A n.7843C>A c.7739C>A (p.Pro2580Gln) | dbSNP |
13 | g.32362552C= | CA2082830647 | BRCA2 | c.7835C= (p.Pro2612=) c.7466C= (p.Pro2489=) c.302C= (p.Pro101=) c.7843C= (p.Gln2615=) c.400C= n.7843C= c.7739C= (p.Pro2580=) | |
13 | g.32362552C>G | CA387747014 | BRCA2 | c.7835C>G (p.Pro2612Arg) c.7466C>G (p.Pro2489Arg) c.302C>G (p.Pro101Arg) c.7843C>G (p.Gln2615Glu) c.400C>G n.7843C>G c.7739C>G (p.Pro2580Arg) | dbSNP |
13 | g.32362552C>T | CA387747013 | BRCA2 | c.7835C>T (p.Pro2612Leu) c.7466C>T (p.Pro2489Leu) c.302C>T (p.Pro101Leu) c.7843C>T (p.Gln2615Ter) c.400C>T n.7843C>T c.7739C>T (p.Pro2580Leu) | dbSNP |
13 | g.32362552_32362555dup | CA2580087396 | BRCA2 | c.7835_7838dup (p.Lys2613AsnfsTer6) c.7466_7469dup (p.Lys2490AsnfsTer6) c.302_305dup (p.Lys102AsnfsTer6) c.7843_7846dup (p.Ser2616ThrfsTer?) c.400_403dup n.7843_7846dup c.7739_7742dup (p.Lys2581AsnfsTer6) | ClinVar |
13 | g.32362553A= | CA2082830657 | BRCA2 | c.7836A= (p.Pro2612=) c.7467A= (p.Pro2489=) c.303A= (p.Pro101=) c.7844A= (p.Gln2615=) c.401A= n.7844A= c.7740A= (p.Pro2580=) | |
13 | g.32362553A>C | CA16614361 | BRCA2 | c.7836A>C (p.Pro2612=) c.7467A>C (p.Pro2489=) c.303A>C (p.Pro101=) c.7844A>C (p.Gln2615Pro) c.401A>C n.7844A>C c.7740A>C (p.Pro2580=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362553A>G | CA483260822 | BRCA2 | c.7836A>G (p.Pro2612=) c.7467A>G (p.Pro2489=) c.303A>G (p.Pro101=) c.7844A>G (p.Gln2615Arg) c.401A>G n.7844A>G c.7740A>G (p.Pro2580=) | dbSNP |
13 | g.32362553A>T | CA483260823 | BRCA2 | c.7836A>T (p.Pro2612=) c.7467A>T (p.Pro2489=) c.303A>T (p.Pro101=) c.7844A>T (p.Gln2615Leu) c.401A>T n.7844A>T c.7740A>T (p.Pro2580=) | |
13 | g.32362554A>C | CA387747016 | BRCA2 | c.7837A>C (p.Lys2613Gln) c.7468A>C (p.Lys2490Gln) c.304A>C (p.Lys102Gln) c.7845A>C (p.Gln2615His) c.402A>C n.7845A>C c.7741A>C (p.Lys2581Gln) | |
13 | g.32362554A>G | CA387747017 | BRCA2 | c.7837A>G (p.Lys2613Glu) c.7468A>G (p.Lys2490Glu) c.304A>G (p.Lys102Glu) c.7845A>G (p.Gln2615=) c.402A>G n.7845A>G c.7741A>G (p.Lys2581Glu) | |
13 | g.32362554A>T | CA387747018 | BRCA2 | c.7837A>T (p.Lys2613Ter) c.7468A>T (p.Lys2490Ter) c.304A>T (p.Lys102Ter) c.7845A>T (p.Gln2615His) c.402A>T n.7845A>T c.7741A>T (p.Lys2581Ter) | dbSNP |
13 | g.32362555A>C | CA387747019 | BRCA2 | c.7838A>C (p.Lys2613Thr) c.7469A>C (p.Lys2490Thr) c.305A>C (p.Lys102Thr) c.7846A>C (p.Ser2616Arg) c.403A>C n.7846A>C c.7742A>C (p.Lys2581Thr) | |
13 | g.32362555A>G | CA387747020 | BRCA2 | c.7838A>G (p.Lys2613Arg) c.7469A>G (p.Lys2490Arg) c.305A>G (p.Lys102Arg) c.7846A>G (p.Ser2616Gly) c.403A>G n.7846A>G c.7742A>G (p.Lys2581Arg) | |
13 | g.32362555A>T | CA387747021 | BRCA2 | c.7838A>T (p.Lys2613Met) c.7469A>T (p.Lys2490Met) c.305A>T (p.Lys102Met) c.7846A>T (p.Ser2616Cys) c.403A>T n.7846A>T c.7742A>T (p.Lys2581Met) | dbSNP |
13 | g.32362556G>A | CA16607483 | BRCA2 | c.7839G>A (p.Lys2613=) c.7470G>A (p.Lys2490=) c.306G>A (p.Lys102=) c.7847G>A (p.Ser2616Asn) c.404G>A n.7847G>A c.7743G>A (p.Lys2581=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362556G>C | CA387747022 | BRCA2 | c.7839G>C (p.Lys2613Asn) c.7470G>C (p.Lys2490Asn) c.306G>C (p.Lys102Asn) c.7847G>C (p.Ser2616Thr) c.404G>C n.7847G>C c.7743G>C (p.Lys2581Asn) | dbSNP |
13 | g.32362556G= | CA2082830669 | BRCA2 | c.7839G= (p.Lys2613=) c.7470G= (p.Lys2490=) c.306G= (p.Lys102=) c.7847G= (p.Ser2616=) c.404G= n.7847G= c.7743G= (p.Lys2581=) | |
13 | g.32362556G>T | CA387747023 | BRCA2 | c.7839G>T (p.Lys2613Asn) c.7470G>T (p.Lys2490Asn) c.306G>T (p.Lys102Asn) c.7847G>T (p.Ser2616Ile) c.404G>T n.7847G>T c.7743G>T (p.Lys2581Asn) | dbSNP |
13 | g.32362556_32362560delinsGCTTA | CA2082830674 | BRCA2 | c.7839_7843delinsGCTTA (p.Lys2613=) c.7470_7474delinsGCTTA (p.Lys2490=) c.306_310delinsGCTTA (p.Lys102=) c.7847_7851delinsGCTTA (p.Ser2616=) c.404_408delinsGCTTA n.7847_7851delinsGCTTA c.7743_7747delinsGCTTA (p.Lys2581=) | |
13 | g.32362557C>A | CA387747024 | BRCA2 | c.7840C>A (p.Leu2614Ile) c.7471C>A (p.Leu2491Ile) c.307C>A (p.Leu103Ile) c.7848C>A (p.Ser2616Arg) c.405C>A n.7848C>A c.7744C>A (p.Leu2582Ile) | |
13 | g.32362557C>G | CA387747025 | BRCA2 | c.7840C>G (p.Leu2614Val) c.7471C>G (p.Leu2491Val) c.307C>G (p.Leu103Val) c.7848C>G (p.Ser2616Arg) c.405C>G n.7848C>G c.7744C>G (p.Leu2582Val) | |
13 | g.32362557C>T | CA387747026 | BRCA2 | c.7840C>T (p.Leu2614Phe) c.7471C>T (p.Leu2491Phe) c.307C>T (p.Leu103Phe) c.7848C>T (p.Ser2616=) c.405C>T n.7848C>T c.7744C>T (p.Leu2582Phe) | COSMIC |
13 | g.32362557_32362560del | CA954700254 | BRCA2 | c.7840_7843del (p.Leu2614PhefsTer?) c.7471_7474del (p.Leu2491PhefsTer?) c.307_310del (p.Leu103PhefsTer?) c.7848_7851del (p.Leu2617PhefsTer2) c.405_408del n.7848_7851del c.7744_7747del (p.Leu2582PhefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362558T>A | CA387747029 | BRCA2 | c.7841T>A (p.Leu2614His) c.7472T>A (p.Leu2491His) c.308T>A (p.Leu103His) c.7849T>A (p.Leu2617Ile) c.406T>A n.7849T>A c.7745T>A (p.Leu2582His) | |
13 | g.32362558T>C | CA387747028 | BRCA2 | c.7841T>C (p.Leu2614Pro) c.7472T>C (p.Leu2491Pro) c.308T>C (p.Leu103Pro) c.7849T>C (p.Leu2617=) c.406T>C n.7849T>C c.7745T>C (p.Leu2582Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32362558T>G | CA387747027 | BRCA2 | c.7841T>G (p.Leu2614Arg) c.7472T>G (p.Leu2491Arg) c.308T>G (p.Leu103Arg) c.7849T>G (p.Leu2617Val) c.406T>G n.7849T>G c.7745T>G (p.Leu2582Arg) | dbSNP |
13 | g.32362558T= | CA2082830702 | BRCA2 | c.7841T= (p.Leu2614=) c.7472T= (p.Leu2491=) c.308T= (p.Leu103=) c.7849T= (p.Leu2617=) c.406T= n.7849T= c.7745T= (p.Leu2582=) | |
13 | g.32362558_32362560delinsTTA | CA2082830698 | BRCA2 | c.7841_7843delinsTTA (p.Leu2614=) c.7472_7474delinsTTA (p.Leu2491=) c.308_310delinsTTA (p.Leu103=) c.7849_7851delinsTTA (p.Leu2617=) c.406_408delinsTTA n.7849_7851delinsTTA c.7745_7747delinsTTA (p.Leu2582=) | |
13 | g.32362559T>A | CA483260824 | BRCA2 | c.7842T>A (p.Leu2614=) c.7473T>A (p.Leu2491=) c.309T>A (p.Leu103=) c.7850T>A (p.Leu2617Ter) c.407T>A n.7850T>A c.7746T>A (p.Leu2582=) | ClinVar dbSNP |
13 | g.32362559T>C | CA483260825 | BRCA2 | c.7842T>C (p.Leu2614=) c.7473T>C (p.Leu2491=) c.309T>C (p.Leu103=) c.7850T>C (p.Leu2617Ser) c.407T>C n.7850T>C c.7746T>C (p.Leu2582=) | |
13 | g.32362559T>G | CA483260826 | BRCA2 | c.7842T>G (p.Leu2614=) c.7473T>G (p.Leu2491=) c.309T>G (p.Leu103=) c.7850T>G (p.Leu2617Ter) c.407T>G n.7850T>G c.7746T>G (p.Leu2582=) | |
13 | g.32362559T= | CA2082830717 | BRCA2 | c.7842T= (p.Leu2614=) c.7473T= (p.Leu2491=) c.309T= (p.Leu103=) c.7850T= (p.Leu2617=) c.407T= n.7850T= c.7746T= (p.Leu2582=) | |
13 | g.32362560_32362561del | CA10590057 | BRCA2 | c.7843_7844del (p.Ile2615PhefsTer2) c.7474_7475del (p.Ile2492PhefsTer2) c.310_311del (p.Ile104PhefsTer2) c.7851_7852del (p.Leu2617PhefsTer?) c.408_409del n.7851_7852del c.7747_7748del (p.Ile2583PhefsTer2) | ClinVar dbSNP |
13 | g.32362560A= | CA2082830725 | BRCA2 | c.7843A= (p.Ile2615=) c.7474A= (p.Ile2492=) c.310A= (p.Ile104=) c.7851A= (p.Leu2617=) c.408A= n.7851A= c.7747A= (p.Ile2583=) | |
13 | g.32362560A>C | CA387747030 | BRCA2 | c.7843A>C (p.Ile2615Leu) c.7474A>C (p.Ile2492Leu) c.310A>C (p.Ile104Leu) c.7851A>C (p.Leu2617Phe) c.408A>C n.7851A>C c.7747A>C (p.Ile2583Leu) | ClinVar |
13 | g.32362560A>G | CA387747031 | BRCA2 | c.7843A>G (p.Ile2615Val) c.7474A>G (p.Ile2492Val) c.310A>G (p.Ile104Val) c.7851A>G (p.Leu2617=) c.408A>G n.7851A>G c.7747A>G (p.Ile2583Val) | dbSNP |
13 | g.32362560A>T | CA387747032 | BRCA2 | c.7843A>T (p.Ile2615Phe) c.7474A>T (p.Ile2492Phe) c.310A>T (p.Ile104Phe) c.7851A>T (p.Leu2617Phe) c.408A>T n.7851A>T c.7747A>T (p.Ile2583Phe) | dbSNP |
13 | g.32362560_32362561delinsAT | CA2082830723 | BRCA2 | c.7843_7844delinsAT (p.Ile2615=) c.7474_7475delinsAT (p.Ile2492=) c.310_311delinsAT (p.Ile104=) c.7851_7852delinsAT (p.Leu2617=) c.408_409delinsAT n.7851_7852delinsAT c.7747_7748delinsAT (p.Ile2583=) | |
13 | g.32362561T>A | CA387747033 | BRCA2 | c.7844T>A (p.Ile2615Asn) c.7475T>A (p.Ile2492Asn) c.311T>A (p.Ile104Asn) c.7852T>A (p.Phe2618Ile) c.409T>A n.7852T>A c.7748T>A (p.Ile2583Asn) | dbSNP |
13 | g.32362561T>C | CA387747034 | BRCA2 | c.7844T>C (p.Ile2615Thr) c.7475T>C (p.Ile2492Thr) c.311T>C (p.Ile104Thr) c.7852T>C (p.Phe2618Leu) c.409T>C n.7852T>C c.7748T>C (p.Ile2583Thr) | |
13 | g.32362561T>G | CA387747035 | BRCA2 | c.7844T>G (p.Ile2615Ser) c.7475T>G (p.Ile2492Ser) c.311T>G (p.Ile104Ser) c.7852T>G (p.Phe2618Val) c.409T>G n.7852T>G c.7748T>G (p.Ile2583Ser) | dbSNP |
13 | g.32362563del | CA025305 | BRCA2 | c.7846del (p.Ser2616LeufsTer?) c.7477del (p.Ser2493LeufsTer?) c.313del (p.Ser105LeufsTer?) c.7854del (p.Leu2619Ter) c.411del n.7854del c.7750del (p.Ser2584LeufsTer?) | ClinVar dbSNP |
13 | g.32362562T>A | CA483260827 | BRCA2 | c.7845T>A (p.Ile2615=) c.7476T>A (p.Ile2492=) c.312T>A (p.Ile104=) c.7853T>A (p.Phe2618Tyr) c.410T>A n.7853T>A c.7749T>A (p.Ile2583=) | |
13 | g.32362562T>C | CA483260828 | BRCA2 | c.7845T>C (p.Ile2615=) c.7476T>C (p.Ile2492=) c.312T>C (p.Ile104=) c.7853T>C (p.Phe2618Ser) c.410T>C n.7853T>C c.7749T>C (p.Ile2583=) | |
13 | g.32362562T>G | CA387747036 | BRCA2 | c.7845T>G (p.Ile2615Met) c.7476T>G (p.Ile2492Met) c.312T>G (p.Ile104Met) c.7853T>G (p.Phe2618Cys) c.410T>G n.7853T>G c.7749T>G (p.Ile2583Met) | |
13 | g.32362563T>A | CA387747037 | BRCA2 | c.7846T>A (p.Ser2616Thr) c.7477T>A (p.Ser2493Thr) c.313T>A (p.Ser105Thr) c.7854T>A (p.Phe2618Leu) c.411T>A n.7854T>A c.7750T>A (p.Ser2584Thr) | dbSNP |
13 | g.32362563T>C | CA387747038 | BRCA2 | c.7846T>C (p.Ser2616Pro) c.7477T>C (p.Ser2493Pro) c.313T>C (p.Ser105Pro) c.7854T>C (p.Phe2618=) c.411T>C n.7854T>C c.7750T>C (p.Ser2584Pro) | dbSNP |
13 | g.32362563T>G | CA387747039 | BRCA2 | c.7846T>G (p.Ser2616Ala) c.7477T>G (p.Ser2493Ala) c.313T>G (p.Ser105Ala) c.7854T>G (p.Phe2618Leu) c.411T>G n.7854T>G c.7750T>G (p.Ser2584Ala) | gnomAD v4 |
13 | g.32362563_32362564delinsTC | CA2082830743 | BRCA2 | c.7846_7847delinsTC (p.Ser2616=) c.7477_7478delinsTC (p.Ser2493=) c.313_314delinsTC (p.Ser105=) c.7854_7855delinsTC (p.Phe2618=) c.411_412delinsTC n.7854_7855delinsTC c.7750_7751delinsTC (p.Ser2584=) | |
13 | g.32362564del | CA025306 | BRCA2 | c.7847del (p.Ser2616LeufsTer?) c.7478del (p.Ser2493LeufsTer?) c.314del (p.Ser105LeufsTer?) c.7855del (p.Leu2619Ter) c.412del n.7855del c.7751del (p.Ser2584LeufsTer?) | ClinVar dbSNP |
13 | g.32362564C>A | CA387747041 | BRCA2 | c.7847C>A (p.Ser2616Tyr) c.7478C>A (p.Ser2493Tyr) c.314C>A (p.Ser105Tyr) c.7855C>A (p.Leu2619Ile) c.412C>A n.7855C>A c.7751C>A (p.Ser2584Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362564C= | CA2082830756 | BRCA2 | c.7847C= (p.Ser2616=) c.7478C= (p.Ser2493=) c.314C= (p.Ser105=) c.7855C= (p.Leu2619=) c.412C= n.7855C= c.7751C= (p.Ser2584=) | |
13 | g.32362564C>G | CA387747042 | BRCA2 | c.7847C>G (p.Ser2616Cys) c.7478C>G (p.Ser2493Cys) c.314C>G (p.Ser105Cys) c.7855C>G (p.Leu2619Val) c.412C>G n.7855C>G c.7751C>G (p.Ser2584Cys) | ClinVar dbSNP |
13 | g.32362564C>T | CA387747040 | BRCA2 | c.7847C>T (p.Ser2616Phe) c.7478C>T (p.Ser2493Phe) c.314C>T (p.Ser105Phe) c.7855C>T (p.Leu2619=) c.412C>T n.7855C>T c.7751C>T (p.Ser2584Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32362565T>A | CA483260874 | BRCA2 | c.7848T>A (p.Ser2616=) c.7479T>A (p.Ser2493=) c.315T>A (p.Ser105=) c.7856T>A (p.Leu2619Gln) c.413T>A n.7856T>A c.7752T>A (p.Ser2584=) | |
13 | g.32362565T>C | CA483260871 | BRCA2 | c.7848T>C (p.Ser2616=) c.7479T>C (p.Ser2493=) c.315T>C (p.Ser105=) c.7856T>C (p.Leu2619Pro) c.413T>C n.7856T>C c.7752T>C (p.Ser2584=) | |
13 | g.32362565T>G | CA483260873 | BRCA2 | c.7848T>G (p.Ser2616=) c.7479T>G (p.Ser2493=) c.315T>G (p.Ser105=) c.7856T>G (p.Leu2619Arg) c.413T>G n.7856T>G c.7752T>G (p.Ser2584=) | dbSNP |
13 | g.32362565T= | CA2082830769 | BRCA2 | c.7848T= (p.Ser2616=) c.7479T= (p.Ser2493=) c.315T= (p.Ser105=) c.7856T= (p.Leu2619=) c.413T= n.7856T= c.7752T= (p.Ser2584=) | |
13 | g.32362566A= | CA2082830779 | BRCA2 | c.7849A= (p.Arg2617=) c.7480A= (p.Arg2494=) c.316A= (p.Arg106=) c.7857A= (p.Leu2619=) c.414A= n.7857A= c.7753A= (p.Arg2585=) | |
13 | g.32362566A>C | CA483260875 | BRCA2 | c.7849A>C (p.Arg2617=) c.7480A>C (p.Arg2494=) c.316A>C (p.Arg106=) c.7857A>C (p.Leu2619=) c.414A>C n.7857A>C c.7753A>C (p.Arg2585=) | ClinVar |
13 | g.32362566A>G | CA025307 | BRCA2 | c.7849A>G (p.Arg2617Gly) c.7480A>G (p.Arg2494Gly) c.316A>G (p.Arg106Gly) c.7857A>G (p.Leu2619=) c.414A>G n.7857A>G c.7753A>G (p.Arg2585Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362566A>T | CA387747043 | BRCA2 | c.7849A>T (p.Arg2617Ter) c.7480A>T (p.Arg2494Ter) c.316A>T (p.Arg106Ter) c.7857A>T (p.Leu2619=) c.414A>T n.7857A>T c.7753A>T (p.Arg2585Ter) | dbSNP |
13 | g.32362567G>A | CA387747044 | BRCA2 | c.7850G>A (p.Arg2617Lys) c.7481G>A (p.Arg2494Lys) c.317G>A (p.Arg106Lys) c.7858G>A (p.Glu2620Lys) c.415G>A n.7858G>A c.7754G>A (p.Arg2585Lys) | ClinVar dbSNP |
13 | g.32362567G>C | CA387747045 | BRCA2 | c.7850G>C (p.Arg2617Thr) c.7481G>C (p.Arg2494Thr) c.317G>C (p.Arg106Thr) c.7858G>C (p.Glu2620Gln) c.415G>C n.7858G>C c.7754G>C (p.Arg2585Thr) | dbSNP |
13 | g.32362567G= | CA2082830788 | BRCA2 | c.7850G= (p.Arg2617=) c.7481G= (p.Arg2494=) c.317G= (p.Arg106=) c.7858G= (p.Glu2620=) c.415G= n.7858G= c.7754G= (p.Arg2585=) | |
13 | g.32362567G>T | CA387747046 | BRCA2 | c.7850G>T (p.Arg2617Ile) c.7481G>T (p.Arg2494Ile) c.317G>T (p.Arg106Ile) c.7858G>T (p.Glu2620Ter) c.415G>T n.7858G>T c.7754G>T (p.Arg2585Ile) | |
13 | g.32362568A>C | CA387747047 | BRCA2 | c.7851A>C (p.Arg2617Ser) c.7482A>C (p.Arg2494Ser) c.318A>C (p.Arg106Ser) c.7859A>C (p.Glu2620Ala) c.416A>C n.7859A>C c.7755A>C (p.Arg2585Ser) | |
13 | g.32362568A>G | CA483260879 | BRCA2 | c.7851A>G (p.Arg2617=) c.7482A>G (p.Arg2494=) c.318A>G (p.Arg106=) c.7859A>G (p.Glu2620Gly) c.416A>G n.7859A>G c.7755A>G (p.Arg2585=) | |
13 | g.32362568A>T | CA387747048 | BRCA2 | c.7851A>T (p.Arg2617Ser) c.7482A>T (p.Arg2494Ser) c.318A>T (p.Arg106Ser) c.7859A>T (p.Glu2620Val) c.416A>T n.7859A>T c.7755A>T (p.Arg2585Ser) | |
13 | g.32362569_32362579del | CA2695217939 | BRCA2 | c.7852_7862del (p.Ile2618Ter) c.7483_7493del (p.Ile2495Ter) c.319_329del (p.Ile107Ter) c.7860_7870del (p.Glu2620AspfsTer?) c.417_427del n.7860_7870del c.7756_7766del (p.Ile2586Ter) | |
13 | g.32362569A= | CA2082830795 | BRCA2 | c.7852A= (p.Ile2618=) c.7483A= (p.Ile2495=) c.319A= (p.Ile107=) c.7860A= (p.Glu2620=) c.417A= n.7860A= c.7756A= (p.Ile2586=) | |
13 | g.32362569A>C | CA387747049 | BRCA2 | c.7852A>C (p.Ile2618Leu) c.7483A>C (p.Ile2495Leu) c.319A>C (p.Ile107Leu) c.7860A>C (p.Glu2620Asp) c.417A>C n.7860A>C c.7756A>C (p.Ile2586Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362569A>G | CA387747050 | BRCA2 | c.7852A>G (p.Ile2618Val) c.7483A>G (p.Ile2495Val) c.319A>G (p.Ile107Val) c.7860A>G (p.Glu2620=) c.417A>G n.7860A>G c.7756A>G (p.Ile2586Val) | |
13 | g.32362569A>T | CA387747051 | BRCA2 | c.7852A>T (p.Ile2618Phe) c.7483A>T (p.Ile2495Phe) c.319A>T (p.Ile107Phe) c.7860A>T (p.Glu2620Asp) c.417A>T n.7860A>T c.7756A>T (p.Ile2586Phe) | dbSNP |
13 | g.32362569_32362570delinsAT | CA2082830790 | BRCA2 | c.7852_7853delinsAT (p.Ile2618=) c.7483_7484delinsAT (p.Ile2495=) c.319_320delinsAT (p.Ile107=) c.7860_7861delinsAT (p.Glu2620=) c.417_418delinsAT n.7860_7861delinsAT c.7756_7757delinsAT (p.Ile2586=) | |
13 | g.32362570T>A | CA387747052 | BRCA2 | c.7853T>A (p.Ile2618Asn) c.7484T>A (p.Ile2495Asn) c.320T>A (p.Ile107Asn) c.7861T>A (p.Phe2621Ile) c.418T>A n.7861T>A c.7757T>A (p.Ile2586Asn) | |
13 | g.32362570T>C | CA387747053 | BRCA2 | c.7853T>C (p.Ile2618Thr) c.7484T>C (p.Ile2495Thr) c.320T>C (p.Ile107Thr) c.7861T>C (p.Phe2621Leu) c.418T>C n.7861T>C c.7757T>C (p.Ile2586Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362570T>G | CA387747054 | BRCA2 | c.7853T>G (p.Ile2618Ser) c.7484T>G (p.Ile2495Ser) c.320T>G (p.Ile107Ser) c.7861T>G (p.Phe2621Val) c.418T>G n.7861T>G c.7757T>G (p.Ile2586Ser) | |
13 | g.32362570T= | CA2082830806 | BRCA2 | c.7853T= (p.Ile2618=) c.7484T= (p.Ile2495=) c.320T= (p.Ile107=) c.7861T= (p.Phe2621=) c.418T= n.7861T= c.7757T= (p.Ile2586=) | |
13 | g.32362572dup | CA165137 | BRCA2 | c.7855dup (p.Trp2619LeufsTer4) c.7486dup (p.Trp2496LeufsTer4) c.322dup (p.Trp108LeufsTer4) c.7863dup (p.Gly2622TrpfsTer?) c.420dup n.7863dup c.7759dup (p.Trp2587LeufsTer4) | ClinVar dbSNP |
13 | g.32362572del | CA916080524 | BRCA2 | c.7855del (p.Trp2619GlyfsTer29) c.7486del (p.Trp2496GlyfsTer29) c.322del (p.Trp108GlyfsTer29) c.7863del (p.Phe2621LeufsTer4) c.420del n.7863del c.7759del (p.Trp2587GlyfsTer29) | ClinVar dbSNP |
13 | g.32362571T>A | CA483260883 | BRCA2 | c.7854T>A (p.Ile2618=) c.7485T>A (p.Ile2495=) c.321T>A (p.Ile107=) c.7862T>A (p.Phe2621Tyr) c.419T>A n.7862T>A c.7758T>A (p.Ile2586=) | dbSNP |
13 | g.32362571T>C | CA483260884 | BRCA2 | c.7854T>C (p.Ile2618=) c.7485T>C (p.Ile2495=) c.321T>C (p.Ile107=) c.7862T>C (p.Phe2621Ser) c.419T>C n.7862T>C c.7758T>C (p.Ile2586=) | |
13 | g.32362571T>G | CA387747055 | BRCA2 | c.7854T>G (p.Ile2618Met) c.7485T>G (p.Ile2495Met) c.321T>G (p.Ile107Met) c.7862T>G (p.Phe2621Cys) c.419T>G n.7862T>G c.7758T>G (p.Ile2586Met) | |
13 | g.32362572T>A | CA387747056 | BRCA2 | c.7855T>A (p.Trp2619Arg) c.7486T>A (p.Trp2496Arg) c.322T>A (p.Trp108Arg) c.7863T>A (p.Phe2621Leu) c.420T>A n.7863T>A c.7759T>A (p.Trp2587Arg) | |
13 | g.32362572T>C | CA387747058 | BRCA2 | c.7855T>C (p.Trp2619Arg) c.7486T>C (p.Trp2496Arg) c.322T>C (p.Trp108Arg) c.7863T>C (p.Phe2621=) c.420T>C n.7863T>C c.7759T>C (p.Trp2587Arg) | ClinVar dbSNP |
13 | g.32362572T>G | CA387747057 | BRCA2 | c.7855T>G (p.Trp2619Gly) c.7486T>G (p.Trp2496Gly) c.322T>G (p.Trp108Gly) c.7863T>G (p.Phe2621Leu) c.420T>G n.7863T>G c.7759T>G (p.Trp2587Gly) | ClinVar |
13 | g.32362572T= | CA2082830812 | BRCA2 | c.7855T= (p.Trp2619=) c.7486T= (p.Trp2496=) c.322T= (p.Trp108=) c.7863T= (p.Phe2621=) c.420T= n.7863T= c.7759T= (p.Trp2587=) | |
13 | g.32362572_32362573delinsTG | CA2082830811 | BRCA2 | c.7855_7856delinsTG (p.Trp2619=) c.7486_7487delinsTG (p.Trp2496=) c.322_323delinsTG (p.Trp108=) c.7863_7864delinsTG (p.Phe2621=) c.420_421delinsTG n.7863_7864delinsTG c.7759_7760delinsTG (p.Trp2587=) | |
13 | g.32362573G>A | CA025309 | BRCA2 | c.7856G>A (p.Trp2619Ter) c.7487G>A (p.Trp2496Ter) c.323G>A (p.Trp108Ter) c.7864G>A (p.Gly2622Arg) c.421G>A n.7864G>A c.7760G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362573G>C | CA025310 | BRCA2 | c.7856G>C (p.Trp2619Ser) c.7487G>C (p.Trp2496Ser) c.323G>C (p.Trp108Ser) c.7864G>C (p.Gly2622Arg) c.421G>C n.7864G>C c.7760G>C (p.Trp2587Ser) | ClinVar dbSNP |
13 | g.32362573G= | CA2082830822 | BRCA2 | c.7856G= (p.Trp2619=) c.7487G= (p.Trp2496=) c.323G= (p.Trp108=) c.7864G= (p.Gly2622=) c.421G= n.7864G= c.7760G= (p.Trp2587=) | |
13 | g.32362573G>T | CA387747059 | BRCA2 | c.7856G>T (p.Trp2619Leu) c.7487G>T (p.Trp2496Leu) c.323G>T (p.Trp108Leu) c.7864G>T (p.Gly2622Trp) c.421G>T n.7864G>T c.7760G>T (p.Trp2587Leu) | dbSNP |
13 | g.32362575del | CA10586581 | BRCA2 | c.7858del (p.Val2620PhefsTer28) c.7489del (p.Val2497PhefsTer28) c.325del (p.Val109PhefsTer28) c.7866del (p.Phe2623LeufsTer2) c.423del n.7866del c.7762del (p.Val2588PhefsTer28) | ClinVar dbSNP |
13 | g.32362574G>A | CA025311 | BRCA2 | c.7857G>A (p.Trp2619Ter) c.7488G>A (p.Trp2496Ter) c.324G>A (p.Trp108Ter) c.7865G>A (p.Gly2622Glu) c.422G>A n.7865G>A c.7761G>A (p.Trp2587Ter) | ClinVar dbSNP |
13 | g.32362574G>C | CA387747060 | BRCA2 | c.7857G>C (p.Trp2619Cys) c.7488G>C (p.Trp2496Cys) c.324G>C (p.Trp108Cys) c.7865G>C (p.Gly2622Ala) c.422G>C n.7865G>C c.7761G>C (p.Trp2587Cys) | ClinVar dbSNP |
13 | g.32362574G= | CA2082830835 | BRCA2 | c.7857G= (p.Trp2619=) c.7488G= (p.Trp2496=) c.324G= (p.Trp108=) c.7865G= (p.Gly2622=) c.422G= n.7865G= c.7761G= (p.Trp2587=) | |
13 | g.32362574G>T | CA387747061 | BRCA2 | c.7857G>T (p.Trp2619Cys) c.7488G>T (p.Trp2496Cys) c.324G>T (p.Trp108Cys) c.7865G>T (p.Gly2622Val) c.422G>T n.7865G>T c.7761G>T (p.Trp2587Cys) | dbSNP |
13 | g.32362575G>A | CA387747062 | BRCA2 | c.7858G>A (p.Val2620Ile) c.7489G>A (p.Val2497Ile) c.325G>A (p.Val109Ile) c.7866G>A (p.Gly2622=) c.423G>A n.7866G>A c.7762G>A (p.Val2588Ile) | ClinVar dbSNP |
13 | g.32362575G>C | CA387747063 | BRCA2 | c.7858G>C (p.Val2620Leu) c.7489G>C (p.Val2497Leu) c.325G>C (p.Val109Leu) c.7866G>C (p.Gly2622=) c.423G>C n.7866G>C c.7762G>C (p.Val2588Leu) | |
13 | g.32362575G>T | CA387747064 | BRCA2 | c.7858G>T (p.Val2620Phe) c.7489G>T (p.Val2497Phe) c.325G>T (p.Val109Phe) c.7866G>T (p.Gly2622=) c.423G>T n.7866G>T c.7762G>T (p.Val2588Phe) | ClinVar |
13 | g.32362575_32362576del | CA2582341812 | BRCA2 | c.7858_7859del (p.Val2620LeufsTer2) c.7489_7490del (p.Val2497LeufsTer2) c.325_326del (p.Val109LeufsTer2) c.7866_7867del (p.Phe2623TyrfsTer?) c.423_424del n.7866_7867del c.7762_7763del (p.Val2588LeufsTer2) | ClinVar |
13 | g.32362575_32362576delinsGT | CA2082830848 | BRCA2 | c.7858_7859delinsGT (p.Val2620=) c.7489_7490delinsGT (p.Val2497=) c.325_326delinsGT (p.Val109=) c.7866_7867delinsGT (p.Gly2622=) c.423_424delinsGT n.7866_7867delinsGT c.7762_7763delinsGT (p.Val2588=) | |
13 | g.32362576T>A | CA387747066 | BRCA2 | c.7859T>A (p.Val2620Asp) c.7490T>A (p.Val2497Asp) c.326T>A (p.Val109Asp) c.7867T>A (p.Phe2623Ile) c.424T>A n.7867T>A c.7763T>A (p.Val2588Asp) | ClinVar dbSNP |
13 | g.32362576T>C | CA387747067 | BRCA2 | c.7859T>C (p.Val2620Ala) c.7490T>C (p.Val2497Ala) c.326T>C (p.Val109Ala) c.7867T>C (p.Phe2623Leu) c.424T>C n.7867T>C c.7763T>C (p.Val2588Ala) | |
13 | g.32362576T>G | CA387747065 | BRCA2 | c.7859T>G (p.Val2620Gly) c.7490T>G (p.Val2497Gly) c.326T>G (p.Val109Gly) c.7867T>G (p.Phe2623Val) c.424T>G n.7867T>G c.7763T>G (p.Val2588Gly) | |
13 | g.32362578del | CA10589453 | BRCA2 | c.7861del (p.Tyr2621IlefsTer27) c.7492del (p.Tyr2498IlefsTer27) c.328del (p.Tyr110IlefsTer27) c.7869del (p.Phe2623LeufsTer2) c.426del n.7869del c.7765del (p.Tyr2589IlefsTer27) | ClinVar dbSNP |
13 | g.32362577T>A | CA483260890 | BRCA2 | c.7860T>A (p.Val2620=) c.7491T>A (p.Val2497=) c.327T>A (p.Val109=) c.7868T>A (p.Phe2623Tyr) c.425T>A n.7868T>A c.7764T>A (p.Val2588=) | |
13 | g.32362577T>C | CA483260891 | BRCA2 | c.7860T>C (p.Val2620=) c.7491T>C (p.Val2497=) c.327T>C (p.Val109=) c.7868T>C (p.Phe2623Ser) c.425T>C n.7868T>C c.7764T>C (p.Val2588=) | dbSNP |
13 | g.32362577T>G | CA483260892 | BRCA2 | c.7860T>G (p.Val2620=) c.7491T>G (p.Val2497=) c.327T>G (p.Val109=) c.7868T>G (p.Phe2623Cys) c.425T>G n.7868T>G c.7764T>G (p.Val2588=) | |
13 | g.32362578T>A | CA387747068 | BRCA2 | c.7861T>A (p.Tyr2621Asn) c.7492T>A (p.Tyr2498Asn) c.328T>A (p.Tyr110Asn) c.7869T>A (p.Phe2623Leu) c.426T>A n.7869T>A c.7765T>A (p.Tyr2589Asn) | dbSNP |
13 | g.32362578T>C | CA387747069 | BRCA2 | c.7861T>C (p.Tyr2621His) c.7492T>C (p.Tyr2498His) c.328T>C (p.Tyr110His) c.7869T>C (p.Phe2623=) c.426T>C n.7869T>C c.7765T>C (p.Tyr2589His) | dbSNP |
13 | g.32362578T>G | CA387747070 | BRCA2 | c.7861T>G (p.Tyr2621Asp) c.7492T>G (p.Tyr2498Asp) c.328T>G (p.Tyr110Asp) c.7869T>G (p.Phe2623Leu) c.426T>G n.7869T>G c.7765T>G (p.Tyr2589Asp) | |
13 | g.32362579A= | CA2082830859 | BRCA2 | c.7862A= (p.Tyr2621=) c.7493A= (p.Tyr2498=) c.329A= (p.Tyr110=) c.7870A= (p.Ile2624=) c.427A= n.7870A= c.7766A= (p.Tyr2589=) | |
13 | g.32362579A>C | CA387747071 | BRCA2 | c.7862A>C (p.Tyr2621Ser) c.7493A>C (p.Tyr2498Ser) c.329A>C (p.Tyr110Ser) c.7870A>C (p.Ile2624Leu) c.427A>C n.7870A>C c.7766A>C (p.Tyr2589Ser) | |
13 | g.32362579A>G | CA387747072 | BRCA2 | c.7862A>G (p.Tyr2621Cys) c.7493A>G (p.Tyr2498Cys) c.329A>G (p.Tyr110Cys) c.7870A>G (p.Ile2624Val) c.427A>G n.7870A>G c.7766A>G (p.Tyr2589Cys) | ClinVar gnomAD v4 |
13 | g.32362579A>T | CA387747073 | BRCA2 | c.7862A>T (p.Tyr2621Phe) c.7493A>T (p.Tyr2498Phe) c.329A>T (p.Tyr110Phe) c.7870A>T (p.Ile2624Leu) c.427A>T n.7870A>T c.7766A>T (p.Tyr2589Phe) | ClinVar dbSNP |
13 | g.32362580T>A | CA025312 | BRCA2 | c.7863T>A (p.Tyr2621Ter) c.7494T>A (p.Tyr2498Ter) c.330T>A (p.Tyr110Ter) c.7871T>A (p.Ile2624Lys) c.428T>A n.7871T>A c.7767T>A (p.Tyr2589Ter) | ClinVar dbSNP |
13 | g.32362580T>C | CA483260894 | BRCA2 | c.7863T>C (p.Tyr2621=) c.7494T>C (p.Tyr2498=) c.330T>C (p.Tyr110=) c.7871T>C (p.Ile2624Thr) c.428T>C n.7871T>C c.7767T>C (p.Tyr2589=) | |
13 | g.32362580T>G | CA387747074 | BRCA2 | c.7863T>G (p.Tyr2621Ter) c.7494T>G (p.Tyr2498Ter) c.330T>G (p.Tyr110Ter) c.7871T>G (p.Ile2624Arg) c.428T>G n.7871T>G c.7767T>G (p.Tyr2589Ter) | |
13 | g.32362580T= | CA2082830868 | BRCA2 | c.7863T= (p.Tyr2621=) c.7494T= (p.Tyr2498=) c.330T= (p.Tyr110=) c.7871T= (p.Ile2624=) c.428T= n.7871T= c.7767T= (p.Tyr2589=) | |
13 | g.32362581A= | CA2082830897 | BRCA2 | c.7864A= (p.Asn2622=) c.7495A= (p.Asn2499=) c.331A= (p.Asn111=) c.7872A= (p.Ile2624=) c.429A= n.7872A= c.7768A= (p.Asn2590=) | |
13 | g.32362581A>C | CA387747075 | BRCA2 | c.7864A>C (p.Asn2622His) c.7495A>C (p.Asn2499His) c.331A>C (p.Asn111His) c.7872A>C (p.Ile2624=) c.429A>C n.7872A>C c.7768A>C (p.Asn2590His) | |
13 | g.32362581A>G | CA387747076 | BRCA2 | c.7864A>G (p.Asn2622Asp) c.7495A>G (p.Asn2499Asp) c.331A>G (p.Asn111Asp) c.7872A>G (p.Ile2624Met) c.429A>G n.7872A>G c.7768A>G (p.Asn2590Asp) | ClinVar dbSNP |
13 | g.32362581A>T | CA387747077 | BRCA2 | c.7864A>T (p.Asn2622Tyr) c.7495A>T (p.Asn2499Tyr) c.331A>T (p.Asn111Tyr) c.7872A>T (p.Ile2624=) c.429A>T n.7872A>T c.7768A>T (p.Asn2590Tyr) | dbSNP |
13 | g.32362582dup | CA10589454 | BRCA2 | c.7865dup (p.Asn2622LysfsTer4) c.7496dup (p.Asn2499LysfsTer4) c.332dup (p.Asn111LysfsTer4) c.7873dup (p.Ile2625AsnfsTer?) c.430dup n.7873dup c.7769dup (p.Asn2590LysfsTer4) | ClinVar dbSNP |
13 | g.32362582del | CA2727841626 | BRCA2 | c.7865del (p.Asn2622IlefsTer26) c.7496del (p.Asn2499IlefsTer26) c.332del (p.Asn111IlefsTer26) c.7873del (p.Ile2625SerfsTer3) c.430del n.7873del c.7769del (p.Asn2590IlefsTer26) | dbSNP |
13 | g.32362582A= | CA2082830905 | BRCA2 | c.7865A= (p.Asn2622=) c.7496A= (p.Asn2499=) c.332A= (p.Asn111=) c.7873A= (p.Ile2625=) c.430A= n.7873A= c.7769A= (p.Asn2590=) | |
13 | g.32362582A>C | CA387747079 | BRCA2 | c.7865A>C (p.Asn2622Thr) c.7496A>C (p.Asn2499Thr) c.332A>C (p.Asn111Thr) c.7873A>C (p.Ile2625Leu) c.430A>C n.7873A>C c.7769A>C (p.Asn2590Thr) | ClinVar dbSNP |
13 | g.32362582A>G | CA025313 | BRCA2 | c.7865A>G (p.Asn2622Ser) c.7496A>G (p.Asn2499Ser) c.332A>G (p.Asn111Ser) c.7873A>G (p.Ile2625Val) c.430A>G n.7873A>G c.7769A>G (p.Asn2590Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32362582A>T | CA387747078 | BRCA2 | c.7865A>T (p.Asn2622Ile) c.7496A>T (p.Asn2499Ile) c.332A>T (p.Asn111Ile) c.7873A>T (p.Ile2625Phe) c.430A>T n.7873A>T c.7769A>T (p.Asn2590Ile) | ClinVar dbSNP |
13 | g.32362583T>A | CA387747080 | BRCA2 | c.7866T>A (p.Asn2622Lys) c.7497T>A (p.Asn2499Lys) c.333T>A (p.Asn111Lys) c.7874T>A (p.Ile2625Asn) c.431T>A n.7874T>A c.7770T>A (p.Asn2590Lys) | |
13 | g.32362583T>C | CA483260897 | BRCA2 | c.7866T>C (p.Asn2622=) c.7497T>C (p.Asn2499=) c.333T>C (p.Asn111=) c.7874T>C (p.Ile2625Thr) c.431T>C n.7874T>C c.7770T>C (p.Asn2590=) | |
13 | g.32362583T>G | CA387747081 | BRCA2 | c.7866T>G (p.Asn2622Lys) c.7497T>G (p.Asn2499Lys) c.333T>G (p.Asn111Lys) c.7874T>G (p.Ile2625Ser) c.431T>G n.7874T>G c.7770T>G (p.Asn2590Lys) | |
13 | g.32362584C>A | CA387747082 | BRCA2 | c.7867C>A (p.His2623Asn) c.7498C>A (p.His2500Asn) c.334C>A (p.His112Asn) c.7875C>A (p.Ile2625=) c.432C>A n.7875C>A c.7771C>A (p.His2591Asn) | ClinVar |
13 | g.32362584C= | CA2082830910 | BRCA2 | c.7867C= (p.His2623=) c.7498C= (p.His2500=) c.334C= (p.His112=) c.7875C= (p.Ile2625=) c.432C= n.7875C= c.7771C= (p.His2591=) | |
13 | g.32362584C>G | CA387747083 | BRCA2 | c.7867C>G (p.His2623Asp) c.7498C>G (p.His2500Asp) c.334C>G (p.His112Asp) c.7875C>G (p.Ile2625Met) c.432C>G n.7875C>G c.7771C>G (p.His2591Asp) | |
13 | g.32362584C>T | CA387747084 | BRCA2 | c.7867C>T (p.His2623Tyr) c.7498C>T (p.His2500Tyr) c.334C>T (p.His112Tyr) c.7875C>T (p.Ile2625=) c.432C>T n.7875C>T c.7771C>T (p.His2591Tyr) | ClinVar dbSNP |
13 | g.32362585A= | CA2082830918 | BRCA2 | c.7868A= (p.His2623=) c.7499A= (p.His2500=) c.335A= (p.His112=) c.7876A= (p.Thr2626=) c.433A= n.7876A= c.7772A= (p.His2591=) | |
13 | g.32362585A>C | CA387747086 | BRCA2 | c.7868A>C (p.His2623Pro) c.7499A>C (p.His2500Pro) c.335A>C (p.His112Pro) c.7876A>C (p.Thr2626Pro) c.433A>C n.7876A>C c.7772A>C (p.His2591Pro) | ClinVar |
13 | g.32362585A>G | CA025314 | BRCA2 | c.7868A>G (p.His2623Arg) c.7499A>G (p.His2500Arg) c.335A>G (p.His112Arg) c.7876A>G (p.Thr2626Ala) c.433A>G n.7876A>G c.7772A>G (p.His2591Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32362585A>T | CA387747085 | BRCA2 | c.7868A>T (p.His2623Leu) c.7499A>T (p.His2500Leu) c.335A>T (p.His112Leu) c.7876A>T (p.Thr2626Ser) c.433A>T n.7876A>T c.7772A>T (p.His2591Leu) | ClinVar dbSNP |
13 | g.32362586C>A | CA387747087 | BRCA2 | c.7869C>A (p.His2623Gln) c.7500C>A (p.His2500Gln) c.336C>A (p.His112Gln) c.7877C>A (p.Thr2626Asn) c.434C>A n.7877C>A c.7773C>A (p.His2591Gln) | dbSNP |
13 | g.32362586C= | CA2082830927 | BRCA2 | c.7869C= (p.His2623=) c.7500C= (p.His2500=) c.336C= (p.His112=) c.7877C= (p.Thr2626=) c.434C= n.7877C= c.7773C= (p.His2591=) | |
13 | g.32362586C>G | CA387747088 | BRCA2 | c.7869C>G (p.His2623Gln) c.7500C>G (p.His2500Gln) c.336C>G (p.His112Gln) c.7877C>G (p.Thr2626Ser) c.434C>G n.7877C>G c.7773C>G (p.His2591Gln) | dbSNP |
13 | g.32362586C>T | CA483260899 | BRCA2 | c.7869C>T (p.His2623=) c.7500C>T (p.His2500=) c.336C>T (p.His112=) c.7877C>T (p.Thr2626Ile) c.434C>T n.7877C>T c.7773C>T (p.His2591=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362586_32362588delinsCTA | CA2082830926 | BRCA2 | c.7869_7871delinsCTA (p.His2623=) c.7500_7502delinsCTA (p.His2500=) c.336_338delinsCTA (p.His112=) c.7877_7879delinsCTA (p.Thr2626=) c.434_436delinsCTA n.7877_7879delinsCTA c.7773_7775delinsCTA (p.His2591=) | |
13 | g.32362587T>A | CA387747089 | BRCA2 | c.7870T>A (p.Tyr2624Asn) c.7501T>A (p.Tyr2501Asn) c.337T>A (p.Tyr113Asn) c.7878T>A (p.Thr2626=) c.435T>A n.7878T>A c.7774T>A (p.Tyr2592Asn) | dbSNP |
13 | g.32362587T>C | CA387747090 | BRCA2 | c.7870T>C (p.Tyr2624His) c.7501T>C (p.Tyr2501His) c.337T>C (p.Tyr113His) c.7878T>C (p.Thr2626=) c.435T>C n.7878T>C c.7774T>C (p.Tyr2592His) | ClinVar dbSNP |
13 | g.32362587T>G | CA387747091 | BRCA2 | c.7870T>G (p.Tyr2624Asp) c.7501T>G (p.Tyr2501Asp) c.337T>G (p.Tyr113Asp) c.7878T>G (p.Thr2626=) c.435T>G n.7878T>G c.7774T>G (p.Tyr2592Asp) | ClinVar |
13 | g.32362587T= | CA2082830936 | BRCA2 | c.7870T= (p.Tyr2624=) c.7501T= (p.Tyr2501=) c.337T= (p.Tyr113=) c.7878T= (p.Thr2626=) c.435T= n.7878T= c.7774T= (p.Tyr2592=) | |
13 | g.32362589_32362590del | CA025316 | BRCA2 | c.7872_7873del (p.Tyr2624Ter) c.7503_7504del (p.Tyr2501Ter) c.339_340del (p.Tyr113Ter) c.7880_7881del (p.Ile2627ArgfsTer?) c.437_438del n.7880_7881del c.7776_7777del (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362588A= | CA2082830962 | BRCA2 | c.7871A= (p.Tyr2624=) c.7502A= (p.Tyr2501=) c.338A= (p.Tyr113=) c.7879A= (p.Ile2627=) c.436A= n.7879A= c.7775A= (p.Tyr2592=) | |
13 | g.32362588A>C | CA387747093 | BRCA2 | c.7871A>C (p.Tyr2624Ser) c.7502A>C (p.Tyr2501Ser) c.338A>C (p.Tyr113Ser) c.7879A>C (p.Ile2627Leu) c.436A>C n.7879A>C c.7775A>C (p.Tyr2592Ser) | |
13 | g.32362588A>G | CA025315 | BRCA2 | c.7871A>G (p.Tyr2624Cys) c.7502A>G (p.Tyr2501Cys) c.338A>G (p.Tyr113Cys) c.7879A>G (p.Ile2627Val) c.436A>G n.7879A>G c.7775A>G (p.Tyr2592Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32362588A>T | CA387747092 | BRCA2 | c.7871A>T (p.Tyr2624Phe) c.7502A>T (p.Tyr2501Phe) c.338A>T (p.Tyr113Phe) c.7879A>T (p.Ile2627Leu) c.436A>T n.7879A>T c.7775A>T (p.Tyr2592Phe) | dbSNP |
13 | g.32362589T>A | CA387747094 | BRCA2 | c.7872T>A (p.Tyr2624Ter) c.7503T>A (p.Tyr2501Ter) c.339T>A (p.Tyr113Ter) c.7880T>A (p.Ile2627Lys) c.437T>A n.7880T>A c.7776T>A (p.Tyr2592Ter) | dbSNP |
13 | g.32362589T>C | CA10583136 | BRCA2 | c.7872T>C (p.Tyr2624=) c.7503T>C (p.Tyr2501=) c.339T>C (p.Tyr113=) c.7880T>C (p.Ile2627Thr) c.437T>C n.7880T>C c.7776T>C (p.Tyr2592=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362589T>G | CA339124 | BRCA2 | c.7872T>G (p.Tyr2624Ter) c.7503T>G (p.Tyr2501Ter) c.339T>G (p.Tyr113Ter) c.7880T>G (p.Ile2627Arg) c.437T>G n.7880T>G c.7776T>G (p.Tyr2592Ter) | ClinVar dbSNP |
13 | g.32362589T= | CA2082830969 | BRCA2 | c.7872T= (p.Tyr2624=) c.7503T= (p.Tyr2501=) c.339T= (p.Tyr113=) c.7880T= (p.Ile2627=) c.437T= n.7880T= c.7776T= (p.Tyr2592=) | |
13 | g.32362590A>C | CA483260903 | BRCA2 | c.7873A>C (p.Arg2625=) c.7504A>C (p.Arg2502=) c.340A>C (p.Arg114=) c.7881A>C (p.Ile2627=) c.438A>C n.7881A>C c.7777A>C (p.Arg2593=) | ClinVar dbSNP |
13 | g.32362590A>G | CA387747096 | BRCA2 | c.7873A>G (p.Arg2625Gly) c.7504A>G (p.Arg2502Gly) c.340A>G (p.Arg114Gly) c.7881A>G (p.Ile2627Met) c.438A>G n.7881A>G c.7777A>G (p.Arg2593Gly) | ClinVar dbSNP |
13 | g.32362590A>T | CA387747095 | BRCA2 | c.7873A>T (p.Arg2625Ter) c.7504A>T (p.Arg2502Ter) c.340A>T (p.Arg114Ter) c.7881A>T (p.Ile2627=) c.438A>T n.7881A>T c.7777A>T (p.Arg2593Ter) | |
13 | g.32362591G>A | CA348618 | BRCA2 | c.7874G>A (p.Arg2625Lys) c.7505G>A (p.Arg2502Lys) c.341G>A (p.Arg114Lys) c.7882G>A (p.Asp2628Asn) c.439G>A n.7882G>A c.7778G>A (p.Arg2593Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32362591G>C | CA387747097 | BRCA2 | c.7874G>C (p.Arg2625Thr) c.7505G>C (p.Arg2502Thr) c.341G>C (p.Arg114Thr) c.7882G>C (p.Asp2628His) c.439G>C n.7882G>C c.7778G>C (p.Arg2593Thr) | dbSNP |
13 | g.32362591G= | CA2082830981 | BRCA2 | c.7874G= (p.Arg2625=) c.7505G= (p.Arg2502=) c.341G= (p.Arg114=) c.7882G= (p.Asp2628=) c.439G= n.7882G= c.7778G= (p.Arg2593=) | |
13 | g.32362591G>T | CA16619772 | BRCA2 | c.7874G>T (p.Arg2625Ile) c.7505G>T (p.Arg2502Ile) c.341G>T (p.Arg114Ile) c.7882G>T (p.Asp2628Tyr) c.439G>T n.7882G>T c.7778G>T (p.Arg2593Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>C | CA387747098 | BRCA2 | c.7875A>C (p.Arg2625Ser) c.7506A>C (p.Arg2502Ser) c.342A>C (p.Arg114Ser) c.7883A>C (p.Asp2628Ala) c.440A>C n.7883A>C c.7779A>C (p.Arg2593Ser) | |
13 | g.32362592A>G | CA483260908 | BRCA2 | c.7875A>G (p.Arg2625=) c.7506A>G (p.Arg2502=) c.342A>G (p.Arg114=) c.7883A>G (p.Asp2628Gly) c.440A>G n.7883A>G c.7779A>G (p.Arg2593=) | ClinVar dbSNP gnomAD v4 |
13 | g.32362592A>T | CA387747099 | BRCA2 | c.7875A>T (p.Arg2625Ser) c.7506A>T (p.Arg2502Ser) c.342A>T (p.Arg114Ser) c.7883A>T (p.Asp2628Val) c.440A>T n.7883A>T c.7779A>T (p.Arg2593Ser) | ClinVar gnomAD v4 |
13 | g.32362592dup | CA915946881 | BRCA2 | c.7875dup (p.Trp2626MetfsTer15) c.7506dup (p.Trp2503MetfsTer15) c.342dup (p.Trp115MetfsTer15) c.7883dup (p.Asp2628GlufsTer?) c.440dup n.7883dup c.7779dup (p.Trp2594MetfsTer15) | ClinVar dbSNP |
13 | g.32362593T>A | CA16614217 | BRCA2 | c.7876T>A (p.Trp2626Arg) c.7507T>A (p.Trp2503Arg) c.343T>A (p.Trp115Arg) c.7884T>A (p.Asp2628Glu) c.441T>A n.7884T>A c.7780T>A (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>C | CA387747100 | BRCA2 | c.7876T>C (p.Trp2626Arg) c.7507T>C (p.Trp2503Arg) c.343T>C (p.Trp115Arg) c.7884T>C (p.Asp2628=) c.441T>C n.7884T>C c.7780T>C (p.Trp2594Arg) | ClinVar dbSNP |
13 | g.32362593T>G | CA387747101 | BRCA2 | c.7876T>G (p.Trp2626Gly) c.7507T>G (p.Trp2503Gly) c.343T>G (p.Trp115Gly) c.7884T>G (p.Asp2628Glu) c.441T>G n.7884T>G c.7780T>G (p.Trp2594Gly) | gnomAD v4 |
13 | g.32362593T= | CA2082831005 | BRCA2 | c.7876T= (p.Trp2626=) c.7507T= (p.Trp2503=) c.343T= (p.Trp115=) c.7884T= (p.Asp2628=) c.441T= n.7884T= c.7780T= (p.Trp2594=) | |
13 | g.32362593_32362594delinsTG | CA2082831012 | BRCA2 | c.7876_7877delinsTG (p.Trp2626=) c.7507_7508delinsTG (p.Trp2503=) c.343_344delinsTG (p.Trp115=) c.7884_7885delinsTG (p.Asp2628=) c.441_442delinsTG n.7884_7885delinsTG c.7780_7781delinsTG (p.Trp2594=) | |
13 | g.32362594G>A | CA025317 | BRCA2 | c.7877G>A (p.Trp2626Ter) c.7508G>A (p.Trp2503Ter) c.344G>A (p.Trp115Ter) c.7885G>A (p.Gly2629Arg) c.442G>A n.7885G>A c.7781G>A (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362594G>C | CA387747102 | BRCA2 | c.7877G>C (p.Trp2626Ser) c.7508G>C (p.Trp2503Ser) c.344G>C (p.Trp115Ser) c.7885G>C (p.Gly2629Arg) c.442G>C n.7885G>C c.7781G>C (p.Trp2594Ser) | |
13 | g.32362594G= | CA2082831089 | BRCA2 | c.7877G= (p.Trp2626=) c.7508G= (p.Trp2503=) c.344G= (p.Trp115=) c.7885G= (p.Gly2629=) c.442G= n.7885G= c.7781G= (p.Trp2594=) | |
13 | g.32362594G>T | CA387747103 | BRCA2 | c.7877G>T (p.Trp2626Leu) c.7508G>T (p.Trp2503Leu) c.344G>T (p.Trp115Leu) c.7885G>T (p.Gly2629Ter) c.442G>T n.7885G>T c.7781G>T (p.Trp2594Leu) | COSMIC COSMIC |
13 | g.32362595del | CA658653812 | BRCA2 | c.7878del (p.Trp2626Ter) c.7509del (p.Trp2503Ter) c.345del (p.Trp115Ter) c.7886del (p.Gly2629AspfsTer14) c.443del n.7886del c.7782del (p.Trp2594Ter) | ClinVar dbSNP |
13 | g.32362595G>A | CA025318 | BRCA2 | c.7878G>A (p.Trp2626Ter) c.7509G>A (p.Trp2503Ter) c.345G>A (p.Trp115Ter) c.7886G>A (p.Gly2629Glu) c.443G>A n.7886G>A c.7782G>A (p.Trp2594Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32362595G>C | CA025319 | BRCA2 | c.7878G>C (p.Trp2626Cys) c.7509G>C (p.Trp2503Cys) c.345G>C (p.Trp115Cys) c.7886G>C (p.Gly2629Ala) c.443G>C n.7886G>C c.7782G>C (p.Trp2594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32362595G= | CA2082831105 | BRCA2 | c.7878G= (p.Trp2626=) c.7509G= (p.Trp2503=) c.345G= (p.Trp115=) c.7886G= (p.Gly2629=) c.443G= n.7886G= c.7782G= (p.Trp2594=) | |
13 | g.32362595G>T | CA387747104 | BRCA2 | c.7878G>T (p.Trp2626Cys) c.7509G>T (p.Trp2503Cys) c.345G>T (p.Trp115Cys) c.7886G>T (p.Gly2629Val) c.443G>T n.7886G>T c.7782G>T (p.Trp2594Cys) | ClinVar dbSNP |
13 | g.32362595_32362598dup | CA10589455 | BRCA2 | c.7878_7881dup (p.Ile2628AspfsTer14) c.7509_7512dup (p.Ile2505AspfsTer14) c.345_348dup (p.Ile117AspfsTer14) c.7886_7889dup (p.Tyr2631IlefsTer?) c.443_446dup n.7886_7889dup c.7782_7785dup (p.Ile2596AspfsTer14) | ClinVar dbSNP |