| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32330917_32331031del | CA2499222059 | BRCA2 | c.682-2_793+1del c.313-2_424+1del c.*461-2_*572+1del n.880-2_991+1del n.682-2_793+1del | ClinVar dbSNP |
| 13 | g.32330937del | CA024654 | BRCA2 | c.700del (p.Ser234ProfsTer7) c.331del (p.Ser111ProfsTer7) c.*479del (n.*479del) n.898del n.700del | ClinVar dbSNP |
| 13 | g.32330937T>A | CA387759909 | BRCA2 | c.700T>A (p.Ser234Thr) c.331T>A (p.Ser111Thr) c.*479T>A (n.*479T>A) n.898T>A n.700T>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32330937T>C | CA387759910 | BRCA2 | c.700T>C (p.Ser234Pro) c.331T>C (p.Ser111Pro) c.*479T>C (n.*479T>C) n.898T>C n.700T>C | dbSNP |
| 13 | g.32330937T>G | CA387759911 | BRCA2 | c.700T>G (p.Ser234Ala) c.331T>G (p.Ser111Ala) c.*479T>G (n.*479T>G) n.898T>G n.700T>G | |
| 13 | g.32330937T= | CA2082758979 | BRCA2 | c.700T= (p.Ser234=) c.331T= (p.Ser111=) c.*479T= (n.*479T=) n.898T= n.700T= | |
| 13 | g.32330937_32330938delinsAT | CA915946947 | BRCA2 | c.700_701delinsAT (p.Ser234Ile) c.331_332delinsAT (p.Ser111Ile) c.*479_*480delinsAT (n.*479_*480delinsAT) n.898_899delinsAT n.700_701delinsAT | ClinVar dbSNP |
| 13 | g.32330937_32330938delinsTC | CA2082758976 | BRCA2 | c.700_701delinsTC (p.Ser234=) c.331_332delinsTC (p.Ser111=) c.*479_*480delinsTC (n.*479_*480delinsTC) n.898_899delinsTC n.700_701delinsTC | |
| 13 | g.32330938C>A | CA387759916 | BRCA2 | c.701C>A (p.Ser234Tyr) c.332C>A (p.Ser111Tyr) c.*480C>A (n.*480C>A) n.899C>A n.701C>A | |
| 13 | g.32330938C= | CA2082758992 | BRCA2 | c.701C= (p.Ser234=) c.332C= (p.Ser111=) c.*480C= (n.*480C=) n.899C= n.701C= | |
| 13 | g.32330938C>G | CA387759917 | BRCA2 | c.701C>G (p.Ser234Cys) c.332C>G (p.Ser111Cys) c.*480C>G (n.*480C>G) n.899C>G n.701C>G | |
| 13 | g.32330938C>T | CA387759914 | BRCA2 | c.701C>T (p.Ser234Phe) c.332C>T (p.Ser111Phe) c.*480C>T (n.*480C>T) n.899C>T n.701C>T | ClinVar dbSNP |
| 13 | g.32330939del | CA024773 | BRCA2 | c.702del (p.Asn235IlefsTer6) c.333del (p.Asn112IlefsTer6) c.*481del (n.*481del) n.900del n.702del | ClinVar dbSNP |
| 13 | g.32330939C>A | CA483274402 | BRCA2 | c.702C>A (p.Ser234=) c.333C>A (p.Ser111=) c.*481C>A (n.*481C>A) n.900C>A n.702C>A | gnomAD v4 |
| 13 | g.32330939C= | CA2082759000 | BRCA2 | c.702C= (p.Ser234=) c.333C= (p.Ser111=) c.*481C= (n.*481C=) n.900C= n.702C= | |
| 13 | g.32330939C>G | CA483274404 | BRCA2 | c.702C>G (p.Ser234=) c.333C>G (p.Ser111=) c.*481C>G (n.*481C>G) n.900C>G n.702C>G | dbSNP |
| 13 | g.32330939C>T | CA483274405 | BRCA2 | c.702C>T (p.Ser234=) c.333C>T (p.Ser111=) c.*481C>T (n.*481C>T) n.900C>T n.702C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32330940A= | CA2082759010 | BRCA2 | c.703A= (p.Asn235=) c.334A= (p.Asn112=) c.*482A= (n.*482A=) n.901A= n.703A= | |
| 13 | g.32330940A>C | CA387759918 | BRCA2 | c.703A>C (p.Asn235His) c.334A>C (p.Asn112His) c.*482A>C (n.*482A>C) n.901A>C n.703A>C | |
| 13 | g.32330940A>G | CA6940436 | BRCA2 | c.703A>G (p.Asn235Asp) c.334A>G (p.Asn112Asp) c.*482A>G (n.*482A>G) n.901A>G n.703A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330940A>T | CA387759920 | BRCA2 | c.703A>T (p.Asn235Tyr) c.334A>T (p.Asn112Tyr) c.*482A>T (n.*482A>T) n.901A>T n.703A>T | dbSNP |
| 13 | g.32330941A= | CA2082759013 | BRCA2 | c.704A= (p.Asn235=) c.335A= (p.Asn112=) c.*483A= (n.*483A=) n.902A= n.704A= | |
| 13 | g.32330941A>C | CA387759921 | BRCA2 | c.704A>C (p.Asn235Thr) c.335A>C (p.Asn112Thr) c.*483A>C (n.*483A>C) n.902A>C n.704A>C | |
| 13 | g.32330941A>G | CA024792 | BRCA2 | c.704A>G (p.Asn235Ser) c.335A>G (p.Asn112Ser) c.*483A>G (n.*483A>G) n.902A>G n.704A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330941A>T | CA387759923 | BRCA2 | c.704A>T (p.Asn235Ile) c.335A>T (p.Asn112Ile) c.*483A>T (n.*483A>T) n.902A>T n.704A>T | dbSNP |
| 13 | g.32330941_32330942delinsAT | CA2082759018 | BRCA2 | c.704_705delinsAT (p.Asn235=) c.335_336delinsAT (p.Asn112=) c.*483_*484delinsAT (n.*483_*484delinsAT) n.902_903delinsAT n.704_705delinsAT | |
| 13 | g.32330942del | CA658798109 | BRCA2 | c.705del (p.His236MetfsTer5) c.336del (p.His113MetfsTer5) c.*484del (n.*484del) n.903del n.705del | ClinVar dbSNP |
| 13 | g.32330942T>A | CA387759926 | BRCA2 | c.705T>A (p.Asn235Lys) c.336T>A (p.Asn112Lys) c.*484T>A (n.*484T>A) n.903T>A n.705T>A | dbSNP |
| 13 | g.32330942T>C | CA483274408 | BRCA2 | c.705T>C (p.Asn235=) c.336T>C (p.Asn112=) c.*484T>C (n.*484T>C) n.903T>C n.705T>C | ClinVar dbSNP |
| 13 | g.32330942T>G | CA024822 | BRCA2 | c.705T>G (p.Asn235Lys) c.336T>G (p.Asn112Lys) c.*484T>G (n.*484T>G) n.903T>G n.705T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330942T= | CA2082759026 | BRCA2 | c.705T= (p.Asn235=) c.336T= (p.Asn112=) c.*484T= (n.*484T=) n.903T= n.705T= | |
| 13 | g.32330943C>A | CA387759927 | BRCA2 | c.706C>A (p.His236Asn) c.337C>A (p.His113Asn) c.*485C>A (n.*485C>A) n.904C>A n.706C>A | dbSNP |
| 13 | g.32330943C= | CA2082759043 | BRCA2 | c.706C= (p.His236=) c.337C= (p.His113=) c.*485C= (n.*485C=) n.904C= n.706C= | |
| 13 | g.32330943C>G | CA387759928 | BRCA2 | c.706C>G (p.His236Asp) c.337C>G (p.His113Asp) c.*485C>G (n.*485C>G) n.904C>G n.706C>G | dbSNP gnomAD v4 |
| 13 | g.32330943C>T | CA387759930 | BRCA2 | c.706C>T (p.His236Tyr) c.337C>T (p.His113Tyr) c.*485C>T (n.*485C>T) n.904C>T n.706C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32330943_32330944delinsCA | CA2082759046 | BRCA2 | c.706_707delinsCA (p.His236=) c.337_338delinsCA (p.His113=) c.*485_*486delinsCA (n.*485_*486delinsCA) n.904_905delinsCA n.706_707delinsCA | |
| 13 | g.32330943_32330946delinsCATG | CA2082759041 | BRCA2 | c.706_709delinsCATG (p.His236=) c.337_340delinsCATG (p.His113=) c.*485_*488delinsCATG (n.*485_*488delinsCATG) n.904_907delinsCATG n.706_709delinsCATG | |
| 13 | g.32330944del | CA1139663098 | BRCA2 | c.707del (p.His236LeufsTer5) c.338del (p.His113LeufsTer5) c.*486del (n.*486del) n.905del n.707del | ClinVar dbSNP |
| 13 | g.32330944A= | CA2082759065 | BRCA2 | c.707A= (p.His236=) c.338A= (p.His113=) c.*486A= (n.*486A=) n.905A= n.707A= | |
| 13 | g.32330944A>C | CA387759932 | BRCA2 | c.707A>C (p.His236Pro) c.338A>C (p.His113Pro) c.*486A>C (n.*486A>C) n.905A>C n.707A>C | |
| 13 | g.32330944A>G | CA024845 | BRCA2 | c.707A>G (p.His236Arg) c.338A>G (p.His113Arg) c.*486A>G (n.*486A>G) n.905A>G n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330944A>T | CA387759933 | BRCA2 | c.707A>T (p.His236Leu) c.338A>T (p.His113Leu) c.*486A>T (n.*486A>T) n.905A>T n.707A>T | ClinVar dbSNP |
| 13 | g.32330948_32330950del | CA10579469 | BRCA2 | c.711_713del (p.Asp237del) c.342_344del (p.Asp114del) c.*490_*492del (n.*490_*492del) n.909_911del n.711_713del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32330945T>A | CA387759936 | BRCA2 | c.708T>A (p.His236Gln) c.339T>A (p.His113Gln) c.*487T>A (n.*487T>A) n.906T>A n.708T>A | |
| 13 | g.32330945T>C | CA024855 | BRCA2 | c.708T>C (p.His236=) c.339T>C (p.His113=) c.*487T>C (n.*487T>C) n.906T>C n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32330945T>G | CA387759937 | BRCA2 | c.708T>G (p.His236Gln) c.339T>G (p.His113Gln) c.*487T>G (n.*487T>G) n.906T>G n.708T>G | ClinVar |
| 13 | g.32330945T= | CA2082759074 | BRCA2 | c.708T= (p.His236=) c.339T= (p.His113=) c.*487T= (n.*487T=) n.906T= n.708T= | |
| 13 | g.32330946G>A | CA024869 | BRCA2 | c.709G>A (p.Asp237Asn) c.340G>A (p.Asp114Asn) c.*488G>A (n.*488G>A) n.907G>A n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32330946G>C | CA387759940 | BRCA2 | c.709G>C (p.Asp237His) c.340G>C (p.Asp114His) c.*488G>C (n.*488G>C) n.907G>C n.709G>C | dbSNP |