Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338534G>A | CA019680 | BRCA2 | c.4179G>A (p.Ala1393=) c.3810G>A (p.Ala1270=) n.4179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32338534G>C | CA483437882 | BRCA2 | c.4179G>C (p.Ala1393=) c.3810G>C (p.Ala1270=) n.4179G>C | ClinVar dbSNP |
13 | g.32338534G= | CA2082809208 | BRCA2 | c.4179G= (p.Ala1393=) c.3810G= (p.Ala1270=) n.4179G= | |
13 | g.32338534G>T | CA483437883 | BRCA2 | c.4179G>T (p.Ala1393=) c.3810G>T (p.Ala1270=) n.4179G>T | dbSNP |
13 | g.32338535A>C | CA387780117 | BRCA2 | c.4180A>C (p.Lys1394Gln) c.3811A>C (p.Lys1271Gln) n.4180A>C | |
13 | g.32338535A>G | CA387780118 | BRCA2 | c.4180A>G (p.Lys1394Glu) c.3811A>G (p.Lys1271Glu) n.4180A>G | |
13 | g.32338535A>T | CA387780120 | BRCA2 | c.4180A>T (p.Lys1394Ter) c.3811A>T (p.Lys1271Ter) n.4180A>T | dbSNP |
13 | g.32338536A>C | CA387780122 | BRCA2 | c.4181A>C (p.Lys1394Thr) c.3812A>C (p.Lys1271Thr) n.4181A>C | |
13 | g.32338536A>G | CA387780124 | BRCA2 | c.4181A>G (p.Lys1394Arg) c.3812A>G (p.Lys1271Arg) n.4181A>G | dbSNP |
13 | g.32338536A>T | CA387780126 | BRCA2 | c.4181A>T (p.Lys1394Ile) c.3812A>T (p.Lys1271Ile) n.4181A>T | dbSNP |
13 | g.32338537A>C | CA387780128 | BRCA2 | c.4182A>C (p.Lys1394Asn) c.3813A>C (p.Lys1271Asn) n.4182A>C | |
13 | g.32338537A>G | CA483437886 | BRCA2 | c.4182A>G (p.Lys1394=) c.3813A>G (p.Lys1271=) n.4182A>G | ClinVar dbSNP |
13 | g.32338537A>T | CA387780130 | BRCA2 | c.4182A>T (p.Lys1394Asn) c.3813A>T (p.Lys1271Asn) n.4182A>T | dbSNP |
13 | g.32338537_32338538delinsAG | CA2082809211 | BRCA2 | c.4182_4183delinsAG (p.Lys1394=) c.3813_3814delinsAG (p.Lys1271=) n.4182_4183delinsAG | |
13 | g.32338538del | CA1139663190 | BRCA2 | c.4183del (p.Ala1395LeufsTer15) c.3814del (p.Ala1272LeufsTer15) n.4183del | ClinVar dbSNP |
13 | g.32338538G>A | CA387780133 | BRCA2 | c.4183G>A (p.Ala1395Thr) c.3814G>A (p.Ala1272Thr) n.4183G>A | dbSNP |
13 | g.32338538G>C | CA387780135 | BRCA2 | c.4183G>C (p.Ala1395Pro) c.3814G>C (p.Ala1272Pro) n.4183G>C | dbSNP |
13 | g.32338538G= | CA2082809217 | BRCA2 | c.4183G= (p.Ala1395=) c.3814G= (p.Ala1272=) n.4183G= | |
13 | g.32338538G>T | CA019684 | BRCA2 | c.4183G>T (p.Ala1395Ser) c.3814G>T (p.Ala1272Ser) n.4183G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338539C>A | CA387780141 | BRCA2 | c.4184C>A (p.Ala1395Asp) c.3815C>A (p.Ala1272Asp) n.4184C>A | dbSNP |
13 | g.32338539C= | CA2082809231 | BRCA2 | c.4184C= (p.Ala1395=) c.3815C= (p.Ala1272=) n.4184C= | |
13 | g.32338539C>G | CA387780137 | BRCA2 | c.4184C>G (p.Ala1395Gly) c.3815C>G (p.Ala1272Gly) n.4184C>G | dbSNP |
13 | g.32338539C>T | CA387780139 | BRCA2 | c.4184C>T (p.Ala1395Val) c.3815C>T (p.Ala1272Val) n.4184C>T | ClinVar dbSNP |
13 | g.32338539dup | CA2573053809 | BRCA2 | c.4184dup (p.Gln1396SerfsTer7) c.3815dup (p.Gln1273SerfsTer7) n.4184dup | ClinVar dbSNP gnomAD v4 |
13 | g.32338540T>A | CA483437891 | BRCA2 | c.4185T>A (p.Ala1395=) c.3816T>A (p.Ala1272=) n.4185T>A | dbSNP |
13 | g.32338540T>C | CA483437892 | BRCA2 | c.4185T>C (p.Ala1395=) c.3816T>C (p.Ala1272=) n.4185T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338540T>G | CA483437894 | BRCA2 | c.4185T>G (p.Ala1395=) c.3816T>G (p.Ala1272=) n.4185T>G | ClinVar dbSNP |
13 | g.32338540T= | CA2082809236 | BRCA2 | c.4185T= (p.Ala1395=) c.3816T= (p.Ala1272=) n.4185T= | |
13 | g.32338540_32338576del | CA2580087257 | BRCA2 | c.4185_4221del (p.Gln1396SerfsTer2) c.3816_3852del (p.Gln1273SerfsTer2) n.4185_4221del | ClinVar |
13 | g.32338541C>A | CA387780143 | BRCA2 | c.4186C>A (p.Gln1396Lys) c.3817C>A (p.Gln1273Lys) n.4186C>A | ClinVar dbSNP |
13 | g.32338541C= | CA2082809241 | BRCA2 | c.4186C= (p.Gln1396=) c.3817C= (p.Gln1273=) n.4186C= | |
13 | g.32338541C>G | CA6940758 | BRCA2 | c.4186C>G (p.Gln1396Glu) c.3817C>G (p.Gln1273Glu) n.4186C>G | dbSNP ExAC |
13 | g.32338541C>T | CA387780145 | BRCA2 | c.4186C>T (p.Gln1396Ter) c.3817C>T (p.Gln1273Ter) n.4186C>T | ClinVar dbSNP |
13 | g.32338541_32338542delinsCA | CA2082809240 | BRCA2 | c.4186_4187delinsCA (p.Gln1396=) c.3817_3818delinsCA (p.Gln1273=) n.4186_4187delinsCA | |
13 | g.32338542A= | CA2082809249 | BRCA2 | c.4187A= (p.Gln1396=) c.3818A= (p.Gln1273=) n.4187A= | |
13 | g.32338542A>C | CA387780151 | BRCA2 | c.4187A>C (p.Gln1396Pro) c.3818A>C (p.Gln1273Pro) n.4187A>C | |
13 | g.32338542A>G | CA019687 | BRCA2 | c.4187A>G (p.Gln1396Arg) c.3818A>G (p.Gln1273Arg) n.4187A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338542A>T | CA387780149 | BRCA2 | c.4187A>T (p.Gln1396Leu) c.3818A>T (p.Gln1273Leu) n.4187A>T | dbSNP gnomAD v4 |
13 | g.32338543del | CA019693 | BRCA2 | c.4188del (p.Glu1397LysfsTer13) c.3819del (p.Glu1274LysfsTer13) n.4188del | ClinVar dbSNP |
13 | g.32338543A= | CA2082809256 | BRCA2 | c.4188A= (p.Gln1396=) c.3819A= (p.Gln1273=) n.4188A= | |
13 | g.32338543A>C | CA387780153 | BRCA2 | c.4188A>C (p.Gln1396His) c.3819A>C (p.Gln1273His) n.4188A>C | |
13 | g.32338543A>G | CA483437899 | BRCA2 | c.4188A>G (p.Gln1396=) c.3819A>G (p.Gln1273=) n.4188A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338543A>T | CA387780156 | BRCA2 | c.4188A>T (p.Gln1396His) c.3819A>T (p.Gln1273His) n.4188A>T | |
13 | g.32338544G>A | CA019698 | BRCA2 | c.4189G>A (p.Glu1397Lys) c.3820G>A (p.Glu1274Lys) n.4189G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338544G>C | CA387780160 | BRCA2 | c.4189G>C (p.Glu1397Gln) c.3820G>C (p.Glu1274Gln) n.4189G>C | ClinVar dbSNP |
13 | g.32338544G= | CA2082809262 | BRCA2 | c.4189G= (p.Glu1397=) c.3820G= (p.Glu1274=) n.4189G= | |
13 | g.32338544G>T | CA387780162 | BRCA2 | c.4189G>T (p.Glu1397Ter) c.3820G>T (p.Glu1274Ter) n.4189G>T | dbSNP |
13 | g.32338545A= | CA2082809269 | BRCA2 | c.4190A= (p.Glu1397=) c.3821A= (p.Glu1274=) n.4190A= | |
13 | g.32338545A>C | CA387780164 | BRCA2 | c.4190A>C (p.Glu1397Ala) c.3821A>C (p.Glu1274Ala) n.4190A>C | ClinVar dbSNP |
13 | g.32338545A>G | CA387780168 | BRCA2 | c.4190A>G (p.Glu1397Gly) c.3821A>G (p.Glu1274Gly) n.4190A>G |