Unique variants in gene R3HCC1L

Information The variants shown are described using the NM_014472.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-32A>G r.(=) p.(=) g.99923137A>G - R3HCC1L_000001 rs73323863 0.025 13 516 4704 - - Admin
./. 1 - c.64C>T r.(?) p.(Pro22Ser) g.99967935C>T - R3HCC1L_000002 rs148941402 0.001938 1 516 3515 - - Admin
./. 1 - c.458C>T r.(?) p.(Thr153Met) g.99968329C>T - R3HCC1L_000003 rs372453818 0.001938 1 516 8426 - - Admin
./. 1 - c.463G>A r.(?) p.(Val155Met) g.99968334G>A - R3HCC1L_000004 rs146588639 0.005814 3 516 8511 - - Admin
./. 1 - c.664A>G r.(?) p.(Arg222Gly) g.99968535A>G - R3HCC1L_000005 rs115631399 0.003876 2 516 6815 - - Admin
./. 1 - c.714A>C r.(?) p.(Lys238Asn) g.99968585A>C - R3HCC1L_000006 rs7922159 0.001938 1 516 6743 - - Admin
./. 1 - c.781A>G r.(?) p.(Ser261Gly) g.99968652A>G - R3HCC1L_000007 rs35373035 0.00969 5 516 7919 - - Admin
./. 1 - c.799A>G r.(?) p.(Thr267Ala) g.99968670A>G - R3HCC1L_000008 rs34530959 0.001938 1 516 8086 - - Admin
./. 1 - c.872G>T r.(?) p.(Gly291Val) g.99968743G>T - R3HCC1L_000009 rs147674187 0.001938 1 516 8139 - - Admin
./. 1 - c.1147A>G r.(?) p.(Met383Val) g.99969018A>G - R3HCC1L_000010 rs373436697 0.001938 1 516 8356 - - Admin
./. 1 - c.1205C>T r.(?) p.(Ala402Val) g.99969076C>T - R3HCC1L_000011 rs35200917 0.003876 2 516 7514 - - Admin
./. 1 - c.1229G>A r.(?) p.(Arg410Gln) g.99969100G>A - R3HCC1L_000012 rs146287469 0.001938 1 516 7602 - - Admin
./. 1 - c.1369G>A r.(?) p.(Glu457Lys) g.99969240G>A - R3HCC1L_000013 rs74153522 0.001938 1 516 6330 - - Admin
./. 1 - c.1519A>C r.(?) p.(Ile507Leu) g.99969390A>C - R3HCC1L_000014 rs74153524 0.005814 3 516 7665 - - Admin
./. 1 - c.1576G>A r.(?) p.(Glu526Lys) g.99969447G>A - R3HCC1L_000015 rs750156034 0.001938 1 516 8047 - - Admin
./. 1 - c.1604A>C r.(?) p.(Asp535Ala) g.99969475A>C - R3HCC1L_000016 rs34494334 0.182 94 516 8470 - - Admin
./. 1 - c.1627G>C r.(?) p.(Val543Leu) g.99969498G>C - R3HCC1L_000017 rs148867373 0.007752 4 516 8433 - - Admin
./. 1 - c.1636C>T r.(?) p.(Pro546Ser) g.99969507C>T - R3HCC1L_000018 rs35122894 0.025 13 516 8546 - - Admin
./. 1 - c.1697A>G r.(?) p.(His566Arg) g.99969568A>G - R3HCC1L_000019 rs11189513 0.302 156 516 10444 - - Admin
./. 1 - c.1746C>T r.(=) p.(=) g.99969617C>T - R3HCC1L_000020 rs538813584 0.001938 1 516 9304 - - Admin
./. 1 - c.1779A>G r.(=) p.(=) g.99969650A>G - R3HCC1L_000021 rs115833071 0.001938 1 516 7914 - - Admin
./. 1 - c.1785+28_1785+31del r.(=) p.(=) g.99969684_99969687del - R3HCC1L_000022 rs374265889 0.001938 1 516 7914 - - Admin
./. 1 - c.1785+1366A>C r.(=) p.(=) g.99971022A>C - R3HCC1L_000023 rs58486270 0.005814 3 516 7947 - - Admin
./. 1 - c.1785+1429C>A r.(=) p.(=) g.99971085C>A - R3HCC1L_000024 - 0.001938 1 516 7688 1 - Admin
./. 1 - c.1785+1432G>A r.(=) p.(=) g.99971088G>A - R3HCC1L_000025 rs868121767 0.001938 1 516 7584 - - Admin
./. 1 - c.1785+1568A>G r.(=) p.(=) g.99971224A>G - R3HCC1L_000026 rs72826282 0.1 49 488 1492 - - Admin
./. 1 - c.1786-658_1786-657insA r.(=) p.(=) g.99990611_99990612insA - R3HCC1L_000027 - - - - - - - Admin
./. 1 - c.1925A>G r.(?) p.(His642Arg) g.99991408A>G - R3HCC1L_000028 rs1952061 0.996 514 516 7853 - - Admin
./. 1 - c.2032+82C>G r.(=) p.(=) g.99994355C>G - R3HCC1L_000029 rs181874368 0.001938 1 516 3949 - - Admin
./. 1 - c.2042C>T r.(?) p.(Ala681Val) g.99995191C>T - R3HCC1L_000030 rs143935716 0.001938 1 516 8646 - - Admin
./. 1 - c.2098G>T r.(?) p.(Ala700Ser) g.99995247G>T - R3HCC1L_000031 rs35145638 0.014 7 516 8884 - - Admin
./. 1 - c.2128+100T>C r.(=) p.(=) g.99995377T>C - R3HCC1L_000032 rs976654120 0.001938 1 516 3595 1 - Admin
./. 1 - c.2129-59G>A r.(=) p.(=) g.99995722G>A - R3HCC1L_000033 rs746140016 0.001938 1 516 7680 - - Admin
./. 1 - c.2129-52G>T r.(=) p.(=) g.99995729G>T - R3HCC1L_000034 rs114714802 0.00969 5 516 7929 - - Admin
./. 1 - c.2129-8C>T r.(=) p.(=) g.99995773C>T - R3HCC1L_000035 rs61875307 0.182 94 516 8394 - - Admin
./. 1 - c.2175A>C r.(=) p.(=) g.99995827A>C - R3HCC1L_000036 rs142916397 0.003876 2 516 6643 - - Admin
./. 1 - c.2230G>A r.(?) p.(Glu744Lys) g.99995882G>A - R3HCC1L_000038 rs115268639 0.003876 2 516 4371 - - Admin
./. 1 - c.2230G>C r.(?) p.(Glu744Gln) g.99995882G>C - R3HCC1L_000037 rs115268639 0.001938 1 516 4371 - - Admin
./. 1 - c.2270-113G>T r.(=) p.(=) g.100003735G>T - R3HCC1L_000039 rs116414740 0.005814 3 516 3488 - - Admin
./. 1 - c.2270-63T>C r.(=) p.(=) g.100003785T>C - R3HCC1L_000040 rs1359508 0.347 179 516 6188 - - Admin
Legend