| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338527_32338530del | CA2695218198 | BRCA2 | c.4172_4175del (p.Glu1391ValfsTer18) c.3803_3806del (p.Glu1268ValfsTer18) n.4172_4175del | |
| 13 | g.32338528A>C | CA387780093 | BRCA2 | c.4173A>C (p.Glu1391Asp) c.3804A>C (p.Glu1268Asp) n.4173A>C | |
| 13 | g.32338528A>G | CA483437868 | BRCA2 | c.4173A>G (p.Glu1391=) c.3804A>G (p.Glu1268=) n.4173A>G | dbSNP gnomAD v4 |
| 13 | g.32338528A>T | CA387780095 | BRCA2 | c.4173A>T (p.Glu1391Asp) c.3804A>T (p.Glu1268Asp) n.4173A>T | dbSNP |
| 13 | g.32338529G>A | CA019667 | BRCA2 | c.4174G>A (p.Val1392Ile) c.3805G>A (p.Val1269Ile) n.4174G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338529G>C | CA387780098 | BRCA2 | c.4174G>C (p.Val1392Leu) c.3805G>C (p.Val1269Leu) n.4174G>C | dbSNP |
| 13 | g.32338529G= | CA2082809162 | BRCA2 | c.4174G= (p.Val1392=) c.3805G= (p.Val1269=) n.4174G= | |
| 13 | g.32338529G>T | CA387780100 | BRCA2 | c.4174G>T (p.Val1392Phe) c.3805G>T (p.Val1269Phe) n.4174G>T | dbSNP |
| 13 | g.32338529_32338530delinsGT | CA2082809167 | BRCA2 | c.4174_4175delinsGT (p.Val1392=) c.3805_3806delinsGT (p.Val1269=) n.4174_4175delinsGT | |
| 13 | g.32338530T>A | CA387780102 | BRCA2 | c.4175T>A (p.Val1392Asp) c.3806T>A (p.Val1269Asp) n.4175T>A | dbSNP |
| 13 | g.32338530T>C | CA387780104 | BRCA2 | c.4175T>C (p.Val1392Ala) c.3806T>C (p.Val1269Ala) n.4175T>C | dbSNP |
| 13 | g.32338530T>G | CA387780106 | BRCA2 | c.4175T>G (p.Val1392Gly) c.3806T>G (p.Val1269Gly) n.4175T>G | dbSNP |
| 13 | g.32338531del | CA335700 | BRCA2 | c.4176del (p.Ala1393ArgfsTer17) c.3807del (p.Ala1270ArgfsTer17) n.4176del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338531T>A | CA483437876 | BRCA2 | c.4176T>A (p.Val1392=) c.3807T>A (p.Val1269=) n.4176T>A | dbSNP |
| 13 | g.32338531T>C | CA483437877 | BRCA2 | c.4176T>C (p.Val1392=) c.3807T>C (p.Val1269=) n.4176T>C | |
| 13 | g.32338531T>G | CA483437878 | BRCA2 | c.4176T>G (p.Val1392=) c.3807T>G (p.Val1269=) n.4176T>G | |
| 13 | g.32338531T= | CA2082809178 | BRCA2 | c.4176T= (p.Val1392=) c.3807T= (p.Val1269=) n.4176T= | |
| 13 | g.32338532G>A | CA387780112 | BRCA2 | c.4177G>A (p.Ala1393Thr) c.3808G>A (p.Ala1270Thr) n.4177G>A | dbSNP |
| 13 | g.32338532G>C | CA387780109 | BRCA2 | c.4177G>C (p.Ala1393Pro) c.3808G>C (p.Ala1270Pro) n.4177G>C | dbSNP |
| 13 | g.32338532G>T | CA387780111 | BRCA2 | c.4177G>T (p.Ala1393Ser) c.3808G>T (p.Ala1270Ser) n.4177G>T | dbSNP |
| 13 | g.32338532dup | CA10579602 | BRCA2 | c.4177dup (p.Ala1393GlyfsTer10) c.3808dup (p.Ala1270GlyfsTer10) n.4177dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338533C>A | CA387780113 | BRCA2 | c.4178C>A (p.Ala1393Glu) c.3809C>A (p.Ala1270Glu) n.4178C>A | dbSNP |
| 13 | g.32338533C= | CA2082809188 | BRCA2 | c.4178C= (p.Ala1393=) c.3809C= (p.Ala1270=) n.4178C= | |
| 13 | g.32338533C>G | CA019671 | BRCA2 | c.4178C>G (p.Ala1393Gly) c.3809C>G (p.Ala1270Gly) n.4178C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338533C>T | CA019676 | BRCA2 | c.4178C>T (p.Ala1393Val) c.3809C>T (p.Ala1270Val) n.4178C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 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 |