| 4023 | A391E ALA391GLU,ALA393GLU,A393E | NC_000004.12:g.1804426C>A,NC_000004.11:g.1806153C>A,ENST00000440486.8:c.1172C>A,NM_000142.5:c.1172C>A,ENSP00000414914.2:p.Ala391Glu,NP_000133.1:p.Ala391Glu | missense_variant |
| 2906 | Amplification | | |
| 2406 | G370C GLY370CYS,G372C,GLY372CYS | NC_000004.11:g.1806089G>T,NC_000004.12:g.1804362G>T,NM_000142.5:c.1108G>T,NP_000133.1:p.Gly370Cys,NP_001156685.1:p.Gly372Cys | missense_variant |
| 2405 | G380R GLY380ARG,G382R,GLY382ARG | NC_000004.11:g.1806119G>C,NC_000004.12:g.1804392G>C,NM_000142.5:c.1138G>C,NP_000133.1:p.Gly380Arg,NP_001156685.1:p.Gly382Arg,NM_001163213.1:c.1144G>C | missense_variant |
| 4030 | G697C GLY697CYS,GLY699CYS,G699C | NC_000004.12:g.1806604G>T,NC_000004.11:g.1808331G>T,ENST00000440486.8:c.2089G>T,ENSP00000414914.2:p.Gly697Cys ,NM_000142.5:c.2089G>T,NP_000133.1:p.Gly697Cys ,NP_001156685.1:p.Gly699Cys ,NM_001163213.2:c.2095G>T | missense_variant |
| 4024 | K650D LYS650ASP | NC_000004.12:g.1806162_1806164delinsGAC,NC_000004.11:g.1807889_1807891delinsGAC,ENST00000440486.8:c.1948_1950delinsGAC,ENSP00000414914.2:p.Lys650Asp ,NM_000142.5:c.1948_1950delinsGAC,NP_000133.1:p.Lys650Asp | delins |
| 1400 | K650E RS78311289,LYS650GLU,K652E,LYS652GLU,TDII | NC_000004.11:g.1807889A>G,NC_000004.12:g.1806162A>G,NM_000142.5:c.1948A>G,NP_000133.1:p.Lys650Glu | missense_variant |
| 4025 | K650L LYS650LEU | NC_000004.12:g.1806162_1806163delinsCT,NC_000004.11:g.1807889_1807890delinsCT,ENST00000440486.8:c.1948_1949delinsCT,ENSP00000414914.2:p.Lys650Leu,NM_000142.5:c.1948_1949delinsCT,NP_000133.1:p.Lys650Leu | |
| 4013 | K650M LYS650MET | NC_000004.12:g.1806163A>T,NC_000004.11:g.1807890A>T,ENST00000440486.8:c.1949A>T,ENSP00000414914.2:p.Lys650Met,NM_000142.5:c.1949A>T,NP_000133.1:p.Lys650Met | missense_variant |
| 3695 | K650N LYS650ASN | NC_000004.12:g.1806164G>C,NC_000004.11:g.1807891G>C,ENST00000440486.8:c.1950G>C,NM_000142.5:c.1950G>C,ENSP00000414914.2:p.Lys650Asn,NP_000133.1:p.Lys650Asn | missense_variant |
| 4019 | K650Q LYS650GLN,LYS652GLN,LYS538GLN,LYS651GLN,K652Q,K538Q,K651Q | NC_000004.12:g.1806162A>C,NC_000004.11:g.1807889A>C,ENST00000440486.8:c.1948A>C,NM_000142.5:c.1948A>C,ENSP00000414914.2:p.Lys650Gln ,NP_000133.1:p.Lys650Gln | missense_variant |
| 4021 | K650T LYS650THR,LYS652THR,LYS538THR,LYS651THR,K652T,K538T,K651T | NC_000004.12:g.1806163A>,NC_000004.11:g.1807890A>C,ENST00000440486.8:c.1949A>C,NM_000142.5:c.1949A>C,ENSP00000414914.2:p.Lys650Thr ,NP_000133.1:p.Lys650Thr | missense_variant |
| 827 | Mutation | | |
| 325 | Overexpression | | |
| 2403 | R248C RS121913482,ARG248CYS | NC_000004.11:g.1803564C>T,NM_000142.4:c.742C>T,NP_000133.1:p.Arg248Cys,ENST00000340107.4:c.742C>T | missense_variant |
| 628 | S249C SER249CYS,RS121913483 | NC_000004.11:g.1803568C>G,NM_000142.4:c.746C>G,NP_000133.1:p.Ser249Cys,ENST00000340107.4c.746C>G | missense_variant |
| 2400 | V555M VAL443MET,V443M,VAL555MET,ENSP00000414914.2:P.VAL555MET | NM_022965.4:c.1327G>A,NC_000004.11:g.1807494G>A,NM_000142.5:c.1663G>A ,NP_000133.1:p.Val555Met,ENST00000440486.8:c.1663G>A,ENSP00000414914.2:p.Val555Met | missense_variant |
| 2404 | Y373C TYR375CYS,RS121913485,Y375C,TYR373CYS | NC_000004.11:g.1806099A>G,NM_001163213.1:c.1124A>G,NP_000133.1:p.Tyr373Cys,NM_000142.5:c.1118A>G,NC_000004.12:g.1804372A>G | missense_variant |