Unique variants in gene R3HCC1L

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

20 entries on 1 page. Showing entries 1 - 20.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. 1 - c.-213+3670A>T - r.(=) p.(=) g.99898133A>T dbSNP R3HCC1L_000001 rs6584171 0.34628 Admin
./. 1 - c.-212-12607A>G - - - g.99910033A>G dbSNP R3HCC1L_000002 rs2095365 0.71791 Admin
./. 1 - c.-212-8379C>T - r.(=) p.(=) g.99914261C>T dbSNP R3HCC1L_000003 rs10748715 0.65878 Admin
./. 1 - c.-212-3693A>G - - - g.99918947A>G dbSNP R3HCC1L_000004 rs7096493 0.20439 Admin
./. 1 - c.-212-3664A>G - r.(=) p.(=) g.99918976A>G dbSNP R3HCC1L_000005 rs4468282 0.66216 Admin
./. 1 - c.-212-228A>G - - - g.99922412A>G dbSNP R3HCC1L_000020 rs869977 0.13007 Admin
./. 1 - c.-15+8392A>G - - - g.99931546A>G dbSNP R3HCC1L_000006 rs1408943 0.02027 Admin
./. 1 - c.-14-20087C>T - - - g.99947771C>T dbSNP R3HCC1L_000007 rs1252920 0.33277 Admin
./. 1 - c.-14-18598A>G - - - g.99949260A>G dbSNP R3HCC1L_000008 rs2182163 0.97804 Admin
./. 1 - c.-14-5585A>G - - - g.99962273A>G dbSNP R3HCC1L_000009 rs11189510 0.85980 Admin
./. 1 - c.714A>C - r.(?) p.(Lys238Asn) g.99968585A>C dbSNP R3HCC1L_000010 rs7922159 0.05068 Admin
./. 1 - c.1697A>G - r.(?) p.(His566Arg) g.99969568A>G dbSNP R3HCC1L_000011 rs11189513 0.25000 Admin
./. 1 - c.1785+4144A>C - - - g.99973800A>C dbSNP R3HCC1L_000012 rs1359509 0.79730 Admin
./. 1 - c.1785+7083C>T - - - g.99976739C>T dbSNP R3HCC1L_000013 rs7078393 0.66216 Admin
./. 1 - c.1785+8759C>T - - - g.99978415C>T dbSNP R3HCC1L_000014 rs9420729 0.79392 Admin
./. 1 - c.1786-6734G>T - - - g.99984535G>T dbSNP R3HCC1L_000015 rs7914867 0.00507 Admin
./. 1 - c.1786-5262C>G - - - g.99986007C>G dbSNP R3HCC1L_000016 rs12266953 0.04392 Admin
./. 1 - c.2269+3290C>G - r.(=) p.(=) g.99999211C>G dbSNP R3HCC1L_000017 rs10732781 0.02196 Admin
./. 1 - c.2269+3422A>G - - - g.99999343A>G dbSNP R3HCC1L_000018 rs10748721 0.57264 Admin
./. 1 - c.*526C>G - - - g.100004441C>G dbSNP R3HCC1L_000019 rs1048757 0.63176 Admin
Legend