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.32337556_32337557delinsTG | CA2082815211 | BRCA2 | c.3201_3202delinsTG (p.Thr1067=) c.2832_2833delinsTG (p.Thr944=) n.3201_3202delinsTG | |
13 | g.32337556_32337600delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | CA2082815219 | BRCA2 | c.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr1067=) c.2832_2876delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr944=) n.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | |
13 | g.32337557del | CA017531 | BRCA2 | c.3202del (p.Val1068TyrfsTer9) c.2833del (p.Val945TyrfsTer9) n.3202del | ClinVar dbSNP |
13 | g.32337557G>A | CA387775867 | BRCA2 | c.3202G>A (p.Val1068Ile) c.2833G>A (p.Val945Ile) n.3202G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32337557G>C | CA387775866 | BRCA2 | c.3202G>C (p.Val1068Leu) c.2833G>C (p.Val945Leu) n.3202G>C | dbSNP |
13 | g.32337557G= | CA2082815229 | BRCA2 | c.3202G= (p.Val1068=) c.2833G= (p.Val945=) n.3202G= | |
13 | g.32337557G>T | CA387775865 | BRCA2 | c.3202G>T (p.Val1068Leu) c.2833G>T (p.Val945Leu) n.3202G>T | dbSNP |
13 | g.32337557_32337561delinsGTATC | CA2082815230 | BRCA2 | c.3202_3206delinsGTATC (p.Val1068=) c.2833_2837delinsGTATC (p.Val945=) n.3202_3206delinsGTATC | |
13 | g.32337557_32337600del | CA913190906 | BRCA2 | c.3202_3245del (p.Val1068LysfsTer2) c.2833_2876del (p.Val945LysfsTer2) n.3202_3245del | ClinVar dbSNP |
13 | g.32337558T>A | CA387775868 | BRCA2 | c.3203T>A (p.Val1068Glu) c.2834T>A (p.Val945Glu) n.3203T>A | dbSNP |
13 | g.32337558T>C | CA387775869 | BRCA2 | c.3203T>C (p.Val1068Ala) c.2834T>C (p.Val945Ala) n.3203T>C | ClinVar dbSNP |
13 | g.32337558T>G | CA387775870 | BRCA2 | c.3203T>G (p.Val1068Gly) c.2834T>G (p.Val945Gly) n.3203T>G | ClinVar dbSNP |
13 | g.32337560_32337561insAATTGCAGTCAATTAATAT | CA658823656 | BRCA2 | c.3205_3206insAATTGCAGTCAATTAATAT (p.Ser1069Ter) c.2836_2837insAATTGCAGTCAATTAATAT (p.Ser946Ter) n.3205_3206insAATTGCAGTCAATTAATAT | dbSNP |
13 | g.32337559_32337562del | CA658823655 | BRCA2 | c.3204_3207del (p.Ser1069HisfsTer7) c.2835_2838del (p.Ser946HisfsTer7) n.3204_3207del | ClinVar dbSNP |
13 | g.32337559A= | CA2082815243 | BRCA2 | c.3204A= (p.Val1068=) c.2835A= (p.Val945=) n.3204A= | |
13 | g.32337559A>C | CA483437518 | BRCA2 | c.3204A>C (p.Val1068=) c.2835A>C (p.Val945=) n.3204A>C | dbSNP |
13 | g.32337559A>G | CA483437519 | BRCA2 | c.3204A>G (p.Val1068=) c.2835A>G (p.Val945=) n.3204A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337559A>T | CA483437520 | BRCA2 | c.3204A>T (p.Val1068=) c.2835A>T (p.Val945=) n.3204A>T | dbSNP |
13 | g.32337560T>A | CA387775871 | BRCA2 | c.3205T>A (p.Ser1069Thr) c.2836T>A (p.Ser946Thr) n.3205T>A | dbSNP |
13 | g.32337560T>C | CA387775872 | BRCA2 | c.3205T>C (p.Ser1069Pro) c.2836T>C (p.Ser946Pro) n.3205T>C | dbSNP |
13 | g.32337560T>G | CA387775873 | BRCA2 | c.3205T>G (p.Ser1069Ala) c.2836T>G (p.Ser946Ala) n.3205T>G | ClinVar |
13 | g.32337560T= | CA2082815252 | BRCA2 | c.3205T= (p.Ser1069=) c.2836T= (p.Ser946=) n.3205T= | |
13 | g.32337560_32337561insTAATTGCAGTCAATTAATA | CA16619691 | BRCA2 | c.3205_3206insTAATTGCAGTCAATTAATA (p.Ser1069LeufsTer6) c.2836_2837insTAATTGCAGTCAATTAATA (p.Ser946LeufsTer6) n.3205_3206insTAATTGCAGTCAATTAATA | ClinVar dbSNP |
13 | g.32337561C>A | CA387775874 | BRCA2 | c.3206C>A (p.Ser1069Tyr) c.2837C>A (p.Ser946Tyr) n.3206C>A | dbSNP |
13 | g.32337561C= | CA2082815257 | BRCA2 | c.3206C= (p.Ser1069=) c.2837C= (p.Ser946=) n.3206C= | |
13 | g.32337561C>G | CA387775875 | BRCA2 | c.3206C>G (p.Ser1069Cys) c.2837C>G (p.Ser946Cys) n.3206C>G | dbSNP |
13 | g.32337561C>T | CA017538 | BRCA2 | c.3206C>T (p.Ser1069Phe) c.2837C>T (p.Ser946Phe) n.3206C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32337562T>A | CA483437526 | BRCA2 | c.3207T>A (p.Ser1069=) c.2838T>A (p.Ser946=) n.3207T>A | dbSNP |
13 | g.32337562T>C | CA483437527 | BRCA2 | c.3207T>C (p.Ser1069=) c.2838T>C (p.Ser946=) n.3207T>C | dbSNP |
13 | g.32337562T>G | CA483437528 | BRCA2 | c.3207T>G (p.Ser1069=) c.2838T>G (p.Ser946=) n.3207T>G | dbSNP |
13 | g.32337563G>A | CA017548 | BRCA2 | c.3208G>A (p.Ala1070Thr) c.2839G>A (p.Ala947Thr) n.3208G>A | ClinVar dbSNP |
13 | g.32337563G>C | CA387775876 | BRCA2 | c.3208G>C (p.Ala1070Pro) c.2839G>C (p.Ala947Pro) n.3208G>C | dbSNP |
13 | g.32337563G= | CA2082815270 | BRCA2 | c.3208G= (p.Ala1070=) c.2839G= (p.Ala947=) n.3208G= | |
13 | g.32337563G>T | CA017554 | BRCA2 | c.3208G>T (p.Ala1070Ser) c.2839G>T (p.Ala947Ser) n.3208G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337564C>A | CA387775877 | BRCA2 | c.3209C>A (p.Ala1070Glu) c.2840C>A (p.Ala947Glu) n.3209C>A | dbSNP |
13 | g.32337564C>G | CA387775878 | BRCA2 | c.3209C>G (p.Ala1070Gly) c.2840C>G (p.Ala947Gly) n.3209C>G | dbSNP |
13 | g.32337564C>T | CA387775879 | BRCA2 | c.3209C>T (p.Ala1070Val) c.2840C>T (p.Ala947Val) n.3209C>T | ClinVar dbSNP |
13 | g.32337566_32337567dup | CA2580614692 | BRCA2 | c.3211_3212dup (p.Leu1072IlefsTer6) c.2842_2843dup (p.Leu949IlefsTer6) n.3211_3212dup | ClinVar dbSNP |
13 | g.32337565A= | CA2082815278 | BRCA2 | c.3210A= (p.Ala1070=) c.2841A= (p.Ala947=) n.3210A= | |
13 | g.32337565A>C | CA483437534 | BRCA2 | c.3210A>C (p.Ala1070=) c.2841A>C (p.Ala947=) n.3210A>C | ClinVar dbSNP |
13 | g.32337565A>G | CA10579566 | BRCA2 | c.3210A>G (p.Ala1070=) c.2841A>G (p.Ala947=) n.3210A>G | ClinVar dbSNP gnomAD v2 |
13 | g.32337565A>T | CA483437533 | BRCA2 | c.3210A>T (p.Ala1070=) c.2841A>T (p.Ala947=) n.3210A>T | dbSNP |
13 | g.32337566C>A | CA387775880 | BRCA2 | c.3211C>A (p.His1071Asn) c.2842C>A (p.His948Asn) n.3211C>A | |
13 | g.32337566C= | CA2082815289 | BRCA2 | c.3211C= (p.His1071=) c.2842C= (p.His948=) n.3211C= | |
13 | g.32337566C>G | CA387775881 | BRCA2 | c.3211C>G (p.His1071Asp) c.2842C>G (p.His948Asp) n.3211C>G | ClinVar dbSNP |
13 | g.32337566C>T | CA017559 | BRCA2 | c.3211C>T (p.His1071Tyr) c.2842C>T (p.His948Tyr) n.3211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337567A= | CA2082815299 | BRCA2 | c.3212A= (p.His1071=) c.2843A= (p.His948=) n.3212A= | |
13 | g.32337567A>C | CA387775882 | BRCA2 | c.3212A>C (p.His1071Pro) c.2843A>C (p.His948Pro) n.3212A>C | |
13 | g.32337567A>G | CA017566 | BRCA2 | c.3212A>G (p.His1071Arg) c.2843A>G (p.His948Arg) n.3212A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |