Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338524_32338526delinsTGG | CA2082809124 | BRCA2 | c.4169_4171delinsTGG (p.Leu1390=) c.3800_3802delinsTGG (p.Leu1267=) n.4169_4171delinsTGG | |
13 | g.32338525_32338526del | CA10583100 | BRCA2 | c.4170_4171del (p.Glu1391SerfsTer11) c.3801_3802del (p.Glu1268SerfsTer11) n.4170_4171del | ClinVar dbSNP |
13 | g.32338526dup | CA2580087256 | BRCA2 | c.4171dup (p.Glu1391GlyfsTer12) c.3802dup (p.Glu1268GlyfsTer12) n.4171dup | ClinVar |
13 | g.32338526del | CA019663 | BRCA2 | c.4171del (p.Glu1391LysfsTer19) c.3802del (p.Glu1268LysfsTer19) n.4171del | ClinVar dbSNP |
13 | g.32338526G>A | CA387780084 | BRCA2 | c.4171G>A (p.Glu1391Lys) c.3802G>A (p.Glu1268Lys) n.4171G>A | ClinVar dbSNP |
13 | g.32338526G>C | CA387780086 | BRCA2 | c.4171G>C (p.Glu1391Gln) c.3802G>C (p.Glu1268Gln) n.4171G>C | dbSNP |
13 | g.32338526G= | CA2082809157 | BRCA2 | c.4171G= (p.Glu1391=) c.3802G= (p.Glu1268=) n.4171G= | |
13 | g.32338526G>T | CA387780083 | BRCA2 | c.4171G>T (p.Glu1391Ter) c.3802G>T (p.Glu1268Ter) n.4171G>T | ClinVar dbSNP |
13 | g.32338527A>C | CA387780088 | BRCA2 | c.4172A>C (p.Glu1391Ala) c.3803A>C (p.Glu1268Ala) n.4172A>C | |
13 | g.32338527A>G | CA387780089 | BRCA2 | c.4172A>G (p.Glu1391Gly) c.3803A>G (p.Glu1268Gly) n.4172A>G | ClinVar dbSNP |
13 | g.32338527A>T | CA387780091 | BRCA2 | c.4172A>T (p.Glu1391Val) c.3803A>T (p.Glu1268Val) n.4172A>T | dbSNP |
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 |