| 8 | g.10612877G>A | CA459620094 | RP1L1 | c.1221C>T (p.Ile407=)
| |
| 8 | g.10612877G>C | CA370295941 | RP1L1 | c.1221C>G (p.Ile407Met)
| ClinVar gnomAD v4 |
| 8 | g.10612877G= | CA1763379149 | RP1L1 | c.1221C= (p.Ile407=)
| |
| 8 | g.10612877G>T | CA4625263 | RP1L1 | c.1221C>A (p.Ile407=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612878A>C | CA370295944 | RP1L1 | c.1220T>G (p.Ile407Ser)
| |
| 8 | g.10612878A>G | CA370295945 | RP1L1 | c.1220T>C (p.Ile407Thr)
| |
| 8 | g.10612878A>T | CA370295946 | RP1L1 | c.1220T>A (p.Ile407Asn)
| |
| 8 | g.10612879T>A | CA370295949 | RP1L1 | c.1219A>T (p.Ile407Phe)
| |
| 8 | g.10612879T>C | CA370295951 | RP1L1 | c.1219A>G (p.Ile407Val)
| |
| 8 | g.10612879T>G | CA370295952 | RP1L1 | c.1219A>C (p.Ile407Leu)
| |
| 8 | g.10612880T>A | CA370295954 | RP1L1 | c.1218A>T (p.Glu406Asp)
| dbSNP |
| 8 | g.10612880T>C | CA459620100 | RP1L1 | c.1218A>G (p.Glu406=)
| |
| 8 | g.10612880T>G | CA370295956 | RP1L1 | c.1218A>C (p.Glu406Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612880T= | CA1763379150 | RP1L1 | c.1218A= (p.Glu406=)
| |
| 8 | g.10612881T>A | CA370295958 | RP1L1 | c.1217A>T (p.Glu406Val)
| |
| 8 | g.10612881T>C | CA370295959 | RP1L1 | c.1217A>G (p.Glu406Gly)
| |
| 8 | g.10612881T>G | CA370295960 | RP1L1 | c.1217A>C (p.Glu406Ala)
| |
| 8 | g.10612882C>A | CA370295961 | RP1L1 | c.1216G>T (p.Glu406Ter)
| |
| 8 | g.10612882C>G | CA370295963 | RP1L1 | c.1216G>C (p.Glu406Gln)
| |
| 8 | g.10612882C>T | CA370295966 | RP1L1 | c.1216G>A (p.Glu406Lys)
| COSMIC |
| 8 | g.10612883A= | CA1763379152 | RP1L1 | c.1215T= (p.Tyr405=)
| |
| 8 | g.10612883A>C | CA171947817 | RP1L1 | c.1215T>G (p.Tyr405Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612883A>G | CA459620105 | RP1L1 | c.1215T>C (p.Tyr405=)
| |
| 8 | g.10612883A>T | CA370295969 | RP1L1 | c.1215T>A (p.Tyr405Ter)
| gnomAD v4 COSMIC |
| 8 | g.10612884T>A | CA370295971 | RP1L1 | c.1214A>T (p.Tyr405Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612884T>C | CA4625264 | RP1L1 | c.1214A>G (p.Tyr405Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612884T>G | CA370295974 | RP1L1 | c.1214A>C (p.Tyr405Ser)
| |
| 8 | g.10612884T= | CA1763379154 | RP1L1 | c.1214A= (p.Tyr405=)
| |
| 8 | g.10612885A>C | CA370295978 | RP1L1 | c.1213T>G (p.Tyr405Asp)
| |
| 8 | g.10612885A>G | CA370295980 | RP1L1 | c.1213T>C (p.Tyr405His)
| |
| 8 | g.10612885A>T | CA370295977 | RP1L1 | c.1213T>A (p.Tyr405Asn)
| |
| 8 | g.10612886C>A | CA370295982 | RP1L1 | c.1212G>T (p.Lys404Asn)
| |
| 8 | g.10612886C= | CA1763379156 | RP1L1 | c.1212G= (p.Lys404=)
| |
| 8 | g.10612886C>G | CA370295984 | RP1L1 | c.1212G>C (p.Lys404Asn)
| gnomAD v4 |
| 8 | g.10612886C>T | CA4625265 | RP1L1 | c.1212G>A (p.Lys404=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612887T>A | CA4625267 | RP1L1 | c.1211A>T (p.Lys404Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612887T>C | CA4625266 | RP1L1 | c.1211A>G (p.Lys404Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612887T>G | CA171947818 | RP1L1 | c.1211A>C (p.Lys404Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612887T= | CA1763379159 | RP1L1 | c.1211A= (p.Lys404=)
| |
| 8 | g.10612888T>A | CA370295989 | RP1L1 | c.1210A>T (p.Lys404Ter)
| |
| 8 | g.10612888T>C | CA4625268 | RP1L1 | c.1210A>G (p.Lys404Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612888T>G | CA370295991 | RP1L1 | c.1210A>C (p.Lys404Gln)
| |
| 8 | g.10612888T= | CA1763379161 | RP1L1 | c.1210A= (p.Lys404=)
| |
| 8 | g.10612889G>A | CA459620115 | RP1L1 | c.1209C>T (p.Pro403=)
| |
| 8 | g.10612889G>C | CA459620117 | RP1L1 | c.1209C>G (p.Pro403=)
| dbSNP |
| 8 | g.10612889G= | CA1763379163 | RP1L1 | c.1209C= (p.Pro403=)
| |
| 8 | g.10612889G>T | CA459620116 | RP1L1 | c.1209C>A (p.Pro403=)
| |
| 8 | g.10612891del | CA2686114059 | RP1L1 | c.1209del (p.Lys404SerfsTer?)
| gnomAD v4 |
| 8 | g.10612890G>A | CA370295993 | RP1L1 | c.1208C>T (p.Pro403Leu)
| |
| 8 | g.10612890G>C | CA370295994 | RP1L1 | c.1208C>G (p.Pro403Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612890G= | CA1763379165 | RP1L1 | c.1208C= (p.Pro403=)
| |
| 8 | g.10612890G>T | CA370295996 | RP1L1 | c.1208C>A (p.Pro403His)
| COSMIC |
| 8 | g.10612891G>A | CA370296000 | RP1L1 | c.1207C>T (p.Pro403Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612891G>C | CA370296003 | RP1L1 | c.1207C>G (p.Pro403Ala)
| gnomAD v4 |
| 8 | g.10612891G= | CA1763379166 | RP1L1 | c.1207C= (p.Pro403=)
| |
| 8 | g.10612891G>T | CA370295998 | RP1L1 | c.1207C>A (p.Pro403Thr)
| gnomAD v4 |
| 8 | g.10612892C>A | CA459620122 | RP1L1 | c.1206G>T (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612892C>G | CA459620123 | RP1L1 | c.1206G>C (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612892C>T | CA459620124 | RP1L1 | c.1206G>A (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612893C>A | CA370296005 | RP1L1 | c.1205G>T (p.Gly402Val)
| |
| 8 | g.10612893C>G | CA370296006 | RP1L1 | c.1205G>C (p.Gly402Ala)
| |
| 8 | g.10612893C>T | CA370296009 | RP1L1 | c.1205G>A (p.Gly402Glu)
| |
| 8 | g.10612894C>A | CA370296011 | RP1L1 | c.1204G>T (p.Gly402Trp)
| |
| 8 | g.10612894C= | CA1763379168 | RP1L1 | c.1204G= (p.Gly402=)
| |
| 8 | g.10612894C>G | CA370296013 | RP1L1 | c.1204G>C (p.Gly402Arg)
| gnomAD v4 |
| 8 | g.10612894C>T | CA4625269 | RP1L1 | c.1204G>A (p.Gly402Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612895T>A | CA459620129 | RP1L1 | c.1203A>T (p.Pro401=)
| |
| 8 | g.10612895T>C | CA459620131 | RP1L1 | c.1203A>G (p.Pro401=)
| |
| 8 | g.10612895T>G | CA459620132 | RP1L1 | c.1203A>C (p.Pro401=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612895T= | CA1763379171 | RP1L1 | c.1203A= (p.Pro401=)
| |
| 8 | g.10612896G>A | CA370296018 | RP1L1 | c.1202C>T (p.Pro401Leu)
| |
| 8 | g.10612896G>C | CA370296015 | RP1L1 | c.1202C>G (p.Pro401Arg)
| dbSNP |
| 8 | g.10612896G= | CA1763379173 | RP1L1 | c.1202C= (p.Pro401=)
| |
| 8 | g.10612896G>T | CA370296017 | RP1L1 | c.1202C>A (p.Pro401Gln)
| gnomAD v4 |
| 8 | g.10612897G>A | CA370296020 | RP1L1 | c.1201C>T (p.Pro401Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612897G>C | CA370296021 | RP1L1 | c.1201C>G (p.Pro401Ala)
| gnomAD v4 |
| 8 | g.10612897G= | CA1763379175 | RP1L1 | c.1201C= (p.Pro401=)
| |
| 8 | g.10612897G>T | CA4625270 | RP1L1 | c.1201C>A (p.Pro401Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612898C>A | CA370296023 | RP1L1 | c.1200G>T (p.Gln400His)
| gnomAD v4 COSMIC |
| 8 | g.10612898C= | CA1763379177 | RP1L1 | c.1200G= (p.Gln400=)
| |
| 8 | g.10612898C>G | CA370296026 | RP1L1 | c.1200G>C (p.Gln400His)
| |
| 8 | g.10612898C>T | CA4625271 | RP1L1 | c.1200G>A (p.Gln400=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612899T>A | CA370296032 | RP1L1 | c.1199A>T (p.Gln400Leu)
| |
| 8 | g.10612899T>C | CA370296034 | RP1L1 | c.1199A>G (p.Gln400Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612899T>G | CA370296029 | RP1L1 | c.1199A>C (p.Gln400Pro)
| gnomAD v4 |
| 8 | g.10612899T= | CA1763379179 | RP1L1 | c.1199A= (p.Gln400=)
| |
| 8 | g.10612900G>A | CA370296040 | RP1L1 | c.1198C>T (p.Gln400Ter)
| gnomAD v4 |
| 8 | g.10612900G>C | CA370296036 | RP1L1 | c.1198C>G (p.Gln400Glu)
| |
| 8 | g.10612900G>T | CA370296038 | RP1L1 | c.1198C>A (p.Gln400Lys)
| |
| 8 | g.10612901C>A | CA459620140 | RP1L1 | c.1197G>T (p.Gly399=)
| |
| 8 | g.10612901C= | CA1763379180 | RP1L1 | c.1197G= (p.Gly399=)
| |
| 8 | g.10612901C>G | CA459620141 | RP1L1 | c.1197G>C (p.Gly399=)
| |
| 8 | g.10612901C>T | CA4625272 | RP1L1 | c.1197G>A (p.Gly399=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612902C>A | CA370296043 | RP1L1 | c.1196G>T (p.Gly399Val)
| gnomAD v4 |
| 8 | g.10612902C= | CA1763379181 | RP1L1 | c.1196G= (p.Gly399=)
| |
| 8 | g.10612902C>G | CA370296045 | RP1L1 | c.1196G>C (p.Gly399Ala)
| |
| 8 | g.10612902C>T | CA370296048 | RP1L1 | c.1196G>A (p.Gly399Glu)
| dbSNP |
| 8 | g.10612903C>A | CA370296049 | RP1L1 | c.1195G>T (p.Gly399Trp)
| COSMIC |
| 8 | g.10612903C= | CA1763379183 | RP1L1 | c.1195G= (p.Gly399=)
| |
| 8 | g.10612903C>G | CA370296050 | RP1L1 | c.1195G>C (p.Gly399Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612903C>T | CA4625273 | RP1L1 | c.1195G>A (p.Gly399Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612903_10612904delinsCG | CA1763379185 | RP1L1 | c.1194_1195delinsCG (p.Gly398=)
| |
| 8 | g.10612904del | CA845125895 | RP1L1 | c.1194del (p.Gln400SerfsTer?)
| dbSNP gnomAD v4 |
| 8 | g.10612904G>A | CA4625274 | RP1L1 | c.1194C>T (p.Gly398=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612904G>C | CA459620143 | RP1L1 | c.1194C>G (p.Gly398=)
| dbSNP gnomAD v4 |
| 8 | g.10612904G= | CA1763379188 | RP1L1 | c.1194C= (p.Gly398=)
| |
| 8 | g.10612904G>T | CA459620145 | RP1L1 | c.1194C>A (p.Gly398=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612905C>A | CA370296051 | RP1L1 | c.1193G>T (p.Gly398Val)
| |
| 8 | g.10612905C>G | CA370296052 | RP1L1 | c.1193G>C (p.Gly398Ala)
| |
| 8 | g.10612905C>T | CA370296054 | RP1L1 | c.1193G>A (p.Gly398Asp)
| |
| 8 | g.10612906C>A | CA370296059 | RP1L1 | c.1192G>T (p.Gly398Cys)
| |
| 8 | g.10612906C>G | CA370296057 | RP1L1 | c.1192G>C (p.Gly398Arg)
| |
| 8 | g.10612906C>T | CA370296056 | RP1L1 | c.1192G>A (p.Gly398Ser)
| |
| 8 | g.10612907T>A | CA459620148 | RP1L1 | c.1191A>T (p.Arg397=)
| |
| 8 | g.10612907T>C | CA4625275 | RP1L1 | c.1191A>G (p.Arg397=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612907T>G | CA459620149 | RP1L1 | c.1191A>C (p.Arg397=)
| |
| 8 | g.10612907T= | CA1763379190 | RP1L1 | c.1191A= (p.Arg397=)
| |
| 8 | g.10612908C>A | CA370296061 | RP1L1 | c.1190G>T (p.Arg397Leu)
| gnomAD v4 |
| 8 | g.10612908C= | CA1763379192 | RP1L1 | c.1190G= (p.Arg397=)
| |
| 8 | g.10612908C>G | CA370296063 | RP1L1 | c.1190G>C (p.Arg397Pro)
| |
| 8 | g.10612908C>T | CA4625276 | RP1L1 | c.1190G>A (p.Arg397Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612909G>A | CA4625277 | RP1L1 | c.1189C>T (p.Arg397Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612909G>C | CA171947826 | RP1L1 | c.1189C>G (p.Arg397Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612909G= | CA1763379194 | RP1L1 | c.1189C= (p.Arg397=)
| |
| 8 | g.10612909G>T | CA459620150 | RP1L1 | c.1189C>A (p.Arg397=)
| |
| 8 | g.10612910G>A | CA171947828 | RP1L1 | c.1188C>T (p.Gly396=)
| dbSNP |
| 8 | g.10612910G>C | CA459620151 | RP1L1 | c.1188C>G (p.Gly396=)
| |
| 8 | g.10612910G= | CA1763379196 | RP1L1 | c.1188C= (p.Gly396=)
| |
| 8 | g.10612910G>T | CA459620152 | RP1L1 | c.1188C>A (p.Gly396=)
| |
| 8 | g.10612911C>A | CA370296067 | RP1L1 | c.1187G>T (p.Gly396Val)
| |
| 8 | g.10612911C>G | CA370296068 | RP1L1 | c.1187G>C (p.Gly396Ala)
| |
| 8 | g.10612911C>T | CA370296069 | RP1L1 | c.1187G>A (p.Gly396Asp)
| |
| 8 | g.10612912C>A | CA370296070 | RP1L1 | c.1186G>T (p.Gly396Cys)
| dbSNP |
| 8 | g.10612912C>G | CA370296072 | RP1L1 | c.1186G>C (p.Gly396Arg)
| gnomAD v4 |
| 8 | g.10612912C>T | CA370296073 | RP1L1 | c.1186G>A (p.Gly396Ser)
| |
| 8 | g.10612913A= | CA1763379198 | RP1L1 | c.1185T= (p.Phe395=)
| |
| 8 | g.10612913A>C | CA370296075 | RP1L1 | c.1185T>G (p.Phe395Leu)
| |
| 8 | g.10612913A>G | CA459620154 | RP1L1 | c.1185T>C (p.Phe395=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612913A>T | CA370296076 | RP1L1 | c.1185T>A (p.Phe395Leu)
| |
| 8 | g.10612914A>C | CA370296080 | RP1L1 | c.1184T>G (p.Phe395Cys)
| |
| 8 | g.10612914A>G | CA370296082 | RP1L1 | c.1184T>C (p.Phe395Ser)
| |
| 8 | g.10612914A>T | CA370296078 | RP1L1 | c.1184T>A (p.Phe395Tyr)
| |
| 8 | g.10612915A>C | CA370296083 | RP1L1 | c.1183T>G (p.Phe395Val)
| |
| 8 | g.10612915A>G | CA370296085 | RP1L1 | c.1183T>C (p.Phe395Leu)
| |
| 8 | g.10612915A>T | CA370296087 | RP1L1 | c.1183T>A (p.Phe395Ile)
| |
| 8 | g.10612916G>A | CA459620157 | RP1L1 | c.1182C>T (p.Val394=)
| |
| 8 | g.10612916G>C | CA459620158 | RP1L1 | c.1182C>G (p.Val394=)
| dbSNP |
| 8 | g.10612916G= | CA1763379200 | RP1L1 | c.1182C= (p.Val394=)
| |
| 8 | g.10612916G>T | CA459620160 | RP1L1 | c.1182C>A (p.Val394=)
| gnomAD v4 |
| 8 | g.10612917A= | CA1763379202 | RP1L1 | c.1181T= (p.Val394=)
| |
| 8 | g.10612917A>C | CA370296088 | RP1L1 | c.1181T>G (p.Val394Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612917A>G | CA370296090 | RP1L1 | c.1181T>C (p.Val394Ala)
| dbSNP |
| 8 | g.10612917A>T | CA370296092 | RP1L1 | c.1181T>A (p.Val394Asp)
| |
| 8 | g.10612918C>A | CA370296093 | RP1L1 | c.1180G>T (p.Val394Phe)
| |
| 8 | g.10612918C>G | CA370296095 | RP1L1 | c.1180G>C (p.Val394Leu)
| |
| 8 | g.10612918C>T | CA370296097 | RP1L1 | c.1180G>A (p.Val394Ile)
| |
| 8 | g.10612919T>A | CA370296099 | RP1L1 | c.1179A>T (p.Glu393Asp)
| |
| 8 | g.10612919T>C | CA459620166 | RP1L1 | c.1179A>G (p.Glu393=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612919T>G | CA370296100 | RP1L1 | c.1179A>C (p.Glu393Asp)
| |
| 8 | g.10612919T= | CA1763379206 | RP1L1 | c.1179A= (p.Glu393=)
| |
| 8 | g.10612919_10612927delinsTTCCCTGCA | CA1763379205 | RP1L1 | c.1171_1179delinsTGCAGGGAA (p.Cys391=)
| |
| 8 | g.10612920T>A | CA370296108 | RP1L1 | c.1178A>T (p.Glu393Val)
| |
| 8 | g.10612920T>C | CA370296106 | RP1L1 | c.1178A>G (p.Glu393Gly)
| |
| 8 | g.10612920T>G | CA370296104 | RP1L1 | c.1178A>C (p.Glu393Ala)
| |
| 8 | g.10612924_10612931del | CA4625278 | RP1L1 | c.1171_1178del (p.Cys391SerfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612924_10612992del | CA2779032952 | RP1L1 | c.1110_1178del (p.Gly371_Glu393del)
| |
| 8 | g.10612921C>A | CA370296111 | RP1L1 | c.1177G>T (p.Glu393Ter)
| |
| 8 | g.10612921C>G | CA370296112 | RP1L1 | c.1177G>C (p.Glu393Gln)
| |
| 8 | g.10612921C>T | CA370296113 | RP1L1 | c.1177G>A (p.Glu393Lys)
| COSMIC |
| 8 | g.10612928_10612939del | CA2579091975 | RP1L1 | c.1166_1177del (p.Val389_Arg392del)
| |
| 8 | g.10612922C>A | CA370296115 | RP1L1 | c.1176G>T (p.Arg392Ser)
| gnomAD v4 |
| 8 | g.10612922C>G | CA370296117 | RP1L1 | c.1176G>C (p.Arg392Ser)
| |
| 8 | g.10612922C>T | CA459620174 | RP1L1 | c.1176G>A (p.Arg392=)
| |
| 8 | g.10612922_10612923insA | CA2779032953 | RP1L1 | c.1175_1176insT (p.Arg392SerfsTer15)
| |
| 8 | g.10612923C>A | CA370296119 | RP1L1 | c.1175G>T (p.Arg392Met)
| COSMIC |
| 8 | g.10612923C>G | CA370296121 | RP1L1 | c.1175G>C (p.Arg392Thr)
| gnomAD v4 |
| 8 | g.10612923C>T | CA370296123 | RP1L1 | c.1175G>A (p.Arg392Lys)
| COSMIC |
| 8 | g.10612924T>A | CA370296125 | RP1L1 | c.1174A>T (p.Arg392Trp)
| dbSNP |
| 8 | g.10612924T>C | CA370296126 | RP1L1 | c.1174A>G (p.Arg392Gly)
| |
| 8 | g.10612924T>G | CA459619855 | RP1L1 | c.1174A>C (p.Arg392=)
| gnomAD v4 |
| 8 | g.10612925G>A | CA459619856 | RP1L1 | c.1173C>T (p.Cys391=)
| dbSNP |
| 8 | g.10612925G>C | CA370296127 | RP1L1 | c.1173C>G (p.Cys391Trp)
| |
| 8 | g.10612925G= | CA1763379209 | RP1L1 | c.1173C= (p.Cys391=)
| |
| 8 | g.10612925G>T | CA4625279 | RP1L1 | c.1173C>A (p.Cys391Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612926C>A | CA370296132 | RP1L1 | c.1172G>T (p.Cys391Phe)
| gnomAD v4 |
| 8 | g.10612926C>G | CA370296130 | RP1L1 | c.1172G>C (p.Cys391Ser)
| |
| 8 | g.10612926C>T | CA370296129 | RP1L1 | c.1172G>A (p.Cys391Tyr)
| gnomAD v4 |
| 8 | g.10612927A= | CA1763379211 | RP1L1 | c.1171T= (p.Cys391=)
| |
| 8 | g.10612927A>C | CA370296134 | RP1L1 | c.1171T>G (p.Cys391Gly)
| |
| 8 | g.10612927A>G | CA370296138 | RP1L1 | c.1171T>C (p.Cys391Arg)
| |
| 8 | g.10612927A>T | CA370296136 | RP1L1 | c.1171T>A (p.Cys391Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612928T>A | CA459619858 | RP1L1 | c.1170A>T (p.Gly390=)
| |
| 8 | g.10612928T>C | CA459619859 | RP1L1 | c.1170A>G (p.Gly390=)
| |
| 8 | g.10612928T>G | CA459619860 | RP1L1 | c.1170A>C (p.Gly390=)
| |
| 8 | g.10612929C>A | CA370296140 | RP1L1 | c.1169G>T (p.Gly390Val)
| |
| 8 | g.10612929C= | CA1763379212 | RP1L1 | c.1169G= (p.Gly390=)
| |
| 8 | g.10612929C>G | CA171947832 | RP1L1 | c.1169G>C (p.Gly390Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612929C>T | CA4625280 | RP1L1 | c.1169G>A (p.Gly390Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612930C>A | CA370296143 | RP1L1 | c.1168G>T (p.Gly390Ter)
| |
| 8 | g.10612930C= | CA1763379215 | RP1L1 | c.1168G= (p.Gly390=)
| |
| 8 | g.10612930C>G | CA370296145 | RP1L1 | c.1168G>C (p.Gly390Arg)
| dbSNP |
| 8 | g.10612930C>T | CA370296147 | RP1L1 | c.1168G>A (p.Gly390Arg)
| |
| 8 | g.10612931C>A | CA459619863 | RP1L1 | c.1167G>T (p.Val389=)
| |
| 8 | g.10612931C= | CA1763379216 | RP1L1 | c.1167G= (p.Val389=)
| |
| 8 | g.10612931C>G | CA459619864 | RP1L1 | c.1167G>C (p.Val389=)
| |
| 8 | g.10612931C>T | CA459619865 | RP1L1 | c.1167G>A (p.Val389=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612932A>C | CA370296150 | RP1L1 | c.1166T>G (p.Val389Gly)
| |
| 8 | g.10612932A>G | CA370296151 | RP1L1 | c.1166T>C (p.Val389Ala)
| |
| 8 | g.10612932A>T | CA370296153 | RP1L1 | c.1166T>A (p.Val389Glu)
| |
| 8 | g.10612933C>A | CA370296155 | RP1L1 | c.1165G>T (p.Val389Leu)
| |
| 8 | g.10612933C= | CA1763379218 | RP1L1 | c.1165G= (p.Val389=)
| |
| 8 | g.10612933C>G | CA370296157 | RP1L1 | c.1165G>C (p.Val389Leu)
| gnomAD v4 |
| 8 | g.10612933C>T | CA4625281 | RP1L1 | c.1165G>A (p.Val389Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612934C>A | CA4625282 | RP1L1 | c.1164G>T (p.Arg388Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612934C= | CA1763379220 | RP1L1 | c.1164G= (p.Arg388=)
| |
| 8 | g.10612934C>G | CA370296160 | RP1L1 | c.1164G>C (p.Arg388Ser)
| |
| 8 | g.10612934C>T | CA459619867 | RP1L1 | c.1164G>A (p.Arg388=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612935C>A | CA370296162 | RP1L1 | c.1163G>T (p.Arg388Met)
| |
| 8 | g.10612935C= | CA1763379222 | RP1L1 | c.1163G= (p.Arg388=)
| |
| 8 | g.10612935C>G | CA370296164 | RP1L1 | c.1163G>C (p.Arg388Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612935C>T | CA4625283 | RP1L1 | c.1163G>A (p.Arg388Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612936T>A | CA370296166 | RP1L1 | c.1162A>T (p.Arg388Trp)
| dbSNP |
| 8 | g.10612936T>C | CA370296167 | RP1L1 | c.1162A>G (p.Arg388Gly)
| |
| 8 | g.10612936T>G | CA4625284 | RP1L1 | c.1162A>C (p.Arg388=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612936T= | CA1763379224 | RP1L1 | c.1162A= (p.Arg388=)
| |
| 8 | g.10612937G>A | CA459619870 | RP1L1 | c.1161C>T (p.Cys387=)
| |
| 8 | g.10612937G>C | CA370296169 | RP1L1 | c.1161C>G (p.Cys387Trp)
| |
| 8 | g.10612937G>T | CA370296171 | RP1L1 | c.1161C>A (p.Cys387Ter)
| |
| 8 | g.10612938C>A | CA4625285 | RP1L1 | c.1160G>T (p.Cys387Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612938C= | CA1763379226 | RP1L1 | c.1160G= (p.Cys387=)
| |
| 8 | g.10612938C>G | CA4625286 | RP1L1 | c.1160G>C (p.Cys387Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612938C>T | CA370296175 | RP1L1 | c.1160G>A (p.Cys387Tyr)
| |
| 8 | g.10612939A>C | CA370296179 | RP1L1 | c.1159T>G (p.Cys387Gly)
| |
| 8 | g.10612939A>G | CA370296180 | RP1L1 | c.1159T>C (p.Cys387Arg)
| gnomAD v4 |
| 8 | g.10612939A>T | CA370296177 | RP1L1 | c.1159T>A (p.Cys387Ser)
| |
| 8 | g.10612940G>A | CA4625287 | RP1L1 | c.1158C>T (p.Pro386=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612940G>C | CA459619873 | RP1L1 | c.1158C>G (p.Pro386=)
| |
| 8 | g.10612940G= | CA1763379228 | RP1L1 | c.1158C= (p.Pro386=)
| |
| 8 | g.10612940G>T | CA459619874 | RP1L1 | c.1158C>A (p.Pro386=)
| gnomAD v4 |
| 8 | g.10612941G>A | CA370296183 | RP1L1 | c.1157C>T (p.Pro386Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612941G>C | CA370296185 | RP1L1 | c.1157C>G (p.Pro386Arg)
| |
| 8 | g.10612941G= | CA1763379230 | RP1L1 | c.1157C= (p.Pro386=)
| |
| 8 | g.10612941G>T | CA370296187 | RP1L1 | c.1157C>A (p.Pro386His)
| |
| 8 | g.10612942G>A | CA370296189 | RP1L1 | c.1156C>T (p.Pro386Ser)
| gnomAD v4 |
| 8 | g.10612942G>C | CA370296190 | RP1L1 | c.1156C>G (p.Pro386Ala)
| |
| 8 | g.10612942G>T | CA370296191 | RP1L1 | c.1156C>A (p.Pro386Thr)
| gnomAD v4 |
| 8 | g.10612943C>A | CA459619878 | RP1L1 | c.1155G>T (p.Arg385=)
| gnomAD v4 |
| 8 | g.10612943C>G | CA459619879 | RP1L1 | c.1155G>C (p.Arg385=)
| gnomAD v4 |
| 8 | g.10612943C>T | CA459619880 | RP1L1 | c.1155G>A (p.Arg385=)
| |
| 8 | g.10612944C>A | CA370296193 | RP1L1 | c.1154G>T (p.Arg385Leu)
| gnomAD v4 |
| 8 | g.10612944C= | CA1763379232 | RP1L1 | c.1154G= (p.Arg385=)
| |
| 8 | g.10612944C>G | CA4625289 | RP1L1 | c.1154G>C (p.Arg385Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612944C>T | CA4625288 | RP1L1 | c.1154G>A (p.Arg385Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612945G>A | CA4625290 | RP1L1 | c.1153C>T (p.Arg385Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612945G>C | CA370296197 | RP1L1 | c.1153C>G (p.Arg385Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612945G= | CA1763379235 | RP1L1 | c.1153C= (p.Arg385=)
| |
| 8 | g.10612945G>T | CA4625291 | RP1L1 | c.1153C>A (p.Arg385=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612946G>A | CA459619886 | RP1L1 | c.1152C>T (p.Pro384=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612946G>C | CA4625292 | RP1L1 | c.1152C>G (p.Pro384=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612946G= | CA1763379237 | RP1L1 | c.1152C= (p.Pro384=)
| |
| 8 | g.10612946G>T | CA459619884 | RP1L1 | c.1152C>A (p.Pro384=)
| |
| 8 | g.10612947G>A | CA4625293 | RP1L1 | c.1151C>T (p.Pro384Leu)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.10612947G>C | CA370296203 | RP1L1 | c.1151C>G (p.Pro384Arg)
| |
| 8 | g.10612947G= | CA1763379239 | RP1L1 | c.1151C= (p.Pro384=)
| |
| 8 | g.10612947G>T | CA370296201 | RP1L1 | c.1151C>A (p.Pro384His)
| dbSNP |
| 8 | g.10612948G>A | CA4625294 | RP1L1 | c.1150C>T (p.Pro384Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612948G>C | CA4625295 | RP1L1 | c.1150C>G (p.Pro384Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612948G= | CA1763379241 | RP1L1 | c.1150C= (p.Pro384=)
| |
| 8 | g.10612948G>T | CA370296207 | RP1L1 | c.1150C>A (p.Pro384Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612949T>A | CA459619892 | RP1L1 | c.1149A>T (p.Gly383=)
| |
| 8 | g.10612949T>C | CA4625296 | RP1L1 | c.1149A>G (p.Gly383=)
| dbSNP ExAC gnomAD v2 |
| 8 | g.10612949T>G | CA459619891 | RP1L1 | c.1149A>C (p.Gly383=)
| |
| 8 | g.10612949T= | CA1763379244 | RP1L1 | c.1149A= (p.Gly383=)
| |
| 8 | g.10612950C>A | CA4625297 | RP1L1 | c.1148G>T (p.Gly383Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612950C= | CA1763379246 | RP1L1 | c.1148G= (p.Gly383=)
| |
| 8 | g.10612950C>G | CA4625298 | RP1L1 | c.1148G>C (p.Gly383Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612950C>T | CA370296210 | RP1L1 | c.1148G>A (p.Gly383Glu)
| gnomAD v4 |
| 8 | g.10612951C>A | CA370296212 | RP1L1 | c.1147G>T (p.Gly383Ter)
| |
| 8 | g.10612951C= | CA1763379248 | RP1L1 | c.1147G= (p.Gly383=)
| |
| 8 | g.10612951C>G | CA370296214 | RP1L1 | c.1147G>C (p.Gly383Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612951C>T | CA370296215 | RP1L1 | c.1147G>A (p.Gly383Arg)
| |
| 8 | g.10612952C>A | CA370296217 | RP1L1 | c.1146G>T (p.Trp382Cys)
| |
| 8 | g.10612952C= | CA1763379249 | RP1L1 | c.1146G= (p.Trp382=)
| |
| 8 | g.10612952C>G | CA370296219 | RP1L1 | c.1146G>C (p.Trp382Cys)
| |
| 8 | g.10612952C>T | CA370296221 | RP1L1 | c.1146G>A (p.Trp382Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612953C>A | CA370296226 | RP1L1 | c.1145G>T (p.Trp382Leu)
| |
| 8 | g.10612953C>G | CA370296225 | RP1L1 | c.1145G>C (p.Trp382Ser)
| |
| 8 | g.10612953C>T | CA370296224 | RP1L1 | c.1145G>A (p.Trp382Ter)
| COSMIC |
| 8 | g.10612954A>C | CA370296229 | RP1L1 | c.1144T>G (p.Trp382Gly)
| |
| 8 | g.10612954A>G | CA370296228 | RP1L1 | c.1144T>C (p.Trp382Arg)
| |
| 8 | g.10612954A>T | CA370296231 | RP1L1 | c.1144T>A (p.Trp382Arg)
| |
| 8 | g.10612955C>A | CA459619896 | RP1L1 | c.1143G>T (p.Val381=)
| |
| 8 | g.10612955C>G | CA459619899 | RP1L1 | c.1143G>C (p.Val381=)
| |
| 8 | g.10612955C>T | CA459619901 | RP1L1 | c.1143G>A (p.Val381=)
| |
| 8 | g.10612956A>C | CA370296233 | RP1L1 | c.1142T>G (p.Val381Gly)
| |
| 8 | g.10612956A>G | CA370296236 | RP1L1 | c.1142T>C (p.Val381Ala)
| |
| 8 | g.10612956A>T | CA370296235 | RP1L1 | c.1142T>A (p.Val381Glu)
| |
| 8 | g.10612957C>A | CA370296238 | RP1L1 | c.1141G>T (p.Val381Leu)
| gnomAD v4 |
| 8 | g.10612957C>G | CA370296241 | RP1L1 | c.1141G>C (p.Val381Leu)
| |
| 8 | g.10612957C>T | CA370296240 | RP1L1 | c.1141G>A (p.Val381Met)
| gnomAD v4 |
| 8 | g.10612960del | CA459619904 | RP1L1 | c.1141del (p.Val381CysfsTer?)
| COSMIC |
| 8 | g.10612958C>A | CA459619911 | RP1L1 | c.1140G>T (p.Gly380=)
| gnomAD v4 |
| 8 | g.10612958C>G | CA459619906 | RP1L1 | c.1140G>C (p.Gly380=)
| |
| 8 | g.10612958C>T | CA459619909 | RP1L1 | c.1140G>A (p.Gly380=)
| gnomAD v4 |
| 8 | g.10612959C>A | CA370296243 | RP1L1 | c.1139G>T (p.Gly380Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612959C= | CA1763379251 | RP1L1 | c.1139G= (p.Gly380=)
| |
| 8 | g.10612959C>G | CA370296244 | RP1L1 | c.1139G>C (p.Gly380Ala)
| gnomAD v4 |
| 8 | g.10612959C>T | CA370296246 | RP1L1 | c.1139G>A (p.Gly380Glu)
| dbSNP gnomAD v2 |
| 8 | g.10612960C>A | CA4625300 | RP1L1 | c.1138G>T (p.Gly380Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612960C= | CA1763379253 | RP1L1 | c.1138G= (p.Gly380=)
| |
| 8 | g.10612960C>G | CA370296249 | RP1L1 | c.1138G>C (p.Gly380Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612960C>T | CA4625299 | RP1L1 | c.1138G>A (p.Gly380Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612961A= | CA1763379254 | RP1L1 | c.1137T= (p.Pro379=)
| |
| 8 | g.10612961A>C | CA459619913 | RP1L1 | c.1137T>G (p.Pro379=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612961A>G | CA459619914 | RP1L1 | c.1137T>C (p.Pro379=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612961A>T | CA459619915 | RP1L1 | c.1137T>A (p.Pro379=)
| |
| 8 | g.10612962G>A | CA4625301 | RP1L1 | c.1136C>T (p.Pro379Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612962G>C | CA370296253 | RP1L1 | c.1136C>G (p.Pro379Arg)
| |
| 8 | g.10612962G= | CA1763379255 | RP1L1 | c.1136C= (p.Pro379=)
| |
| 8 | g.10612962G>T | CA370296254 | RP1L1 | c.1136C>A (p.Pro379His)
| |
| 8 | g.10612963G>A | CA370296256 | RP1L1 | c.1135C>T (p.Pro379Ser)
| |
| 8 | g.10612963G>C | CA370296257 | RP1L1 | c.1135C>G (p.Pro379Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612963G= | CA1763379257 | RP1L1 | c.1135C= (p.Pro379=)
| |
| 8 | g.10612963G>T | CA370296259 | RP1L1 | c.1135C>A (p.Pro379Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612964C>A | CA171947856 | RP1L1 | c.1134G>T (p.Glu378Asp)
| dbSNP COSMIC |
| 8 | g.10612964C= | CA1763379259 | RP1L1 | c.1134G= (p.Glu378=)
| |
| 8 | g.10612964C>G | CA370296262 | RP1L1 | c.1134G>C (p.Glu378Asp)
| |
| 8 | g.10612964C>T | CA4625302 | RP1L1 | c.1134G>A (p.Glu378=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612965T>A | CA370296264 | RP1L1 | c.1133A>T (p.Glu378Val)
| |
| 8 | g.10612965T>C | CA370296265 | RP1L1 | c.1133A>G (p.Glu378Gly)
| |
| 8 | g.10612965T>G | CA370296267 | RP1L1 | c.1133A>C (p.Glu378Ala)
| |
| 8 | g.10612966C>A | CA370296269 | RP1L1 | c.1132G>T (p.Glu378Ter)
| |
| 8 | g.10612966C= | CA1763379262 | RP1L1 | c.1132G= (p.Glu378=)
| |
| 8 | g.10612966C>G | CA370296271 | RP1L1 | c.1132G>C (p.Glu378Gln)
| dbSNP |
| 8 | g.10612966C>T | CA370296272 | RP1L1 | c.1132G>A (p.Glu378Lys)
| dbSNP |
| 8 | g.10612967T>A | CA459619924 | RP1L1 | c.1131A>T (p.Ser377=)
| |
| 8 | g.10612967T>C | CA459619925 | RP1L1 | c.1131A>G (p.Ser377=)
| |
| 8 | g.10612967T>G | CA459619923 | RP1L1 | c.1131A>C (p.Ser377=)
| |
| 8 | g.10612968G>A | CA370296274 | RP1L1 | c.1130C>T (p.Ser377Leu)
| dbSNP gnomAD v4 |
| 8 | g.10612968G>C | CA370296275 | RP1L1 | c.1130C>G (p.Ser377Ter)
| gnomAD v4 COSMIC |
| 8 | g.10612968G= | CA1763379264 | RP1L1 | c.1130C= (p.Ser377=)
| |
| 8 | g.10612968G>T | CA370296277 | RP1L1 | c.1130C>A (p.Ser377Ter)
| |
| 8 | g.10612969A>C | CA370296280 | RP1L1 | c.1129T>G (p.Ser377Ala)
| gnomAD v4 |
| 8 | g.10612969A>G | CA370296282 | RP1L1 | c.1129T>C (p.Ser377Pro)
| gnomAD v4 |
| 8 | g.10612969A>T | CA370296278 | RP1L1 | c.1129T>A (p.Ser377Thr)
| |
| 8 | g.10612970G>A | CA4625304 | RP1L1 | c.1128C>T (p.Phe376=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612970G>C | CA4625303 | RP1L1 | c.1128C>G (p.Phe376Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612970G= | CA1763379266 | RP1L1 | c.1128C= (p.Phe376=)
| |
| 8 | g.10612970G>T | CA370296285 | RP1L1 | c.1128C>A (p.Phe376Leu)
| |
| 8 | g.10612971A>C | CA370296287 | RP1L1 | c.1127T>G (p.Phe376Cys)
| |
| 8 | g.10612971A>G | CA370296289 | RP1L1 | c.1127T>C (p.Phe376Ser)
| |
| 8 | g.10612971A>T | CA370296290 | RP1L1 | c.1127T>A (p.Phe376Tyr)
| |
| 8 | g.10612972A>C | CA370296293 | RP1L1 | c.1126T>G (p.Phe376Val)
| |
| 8 | g.10612972A>G | CA370296295 | RP1L1 | c.1126T>C (p.Phe376Leu)
| |
| 8 | g.10612972A>T | CA370296296 | RP1L1 | c.1126T>A (p.Phe376Ile)
| |
| 8 | g.10612973G>A | CA4625305 | RP1L1 | c.1125C>T (p.Gly375=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612973G>C | CA459619933 | RP1L1 | c.1125C>G (p.Gly375=)
| |
| 8 | g.10612973G= | CA1763379268 | RP1L1 | c.1125C= (p.Gly375=)
| |
| 8 | g.10612973G>T | CA459619934 | RP1L1 | c.1125C>A (p.Gly375=)
| gnomAD v4 |
| 8 | g.10612974C>A | CA370296299 | RP1L1 | c.1124G>T (p.Gly375Val)
| |
| 8 | g.10612974C= | CA1763379271 | RP1L1 | c.1124G= (p.Gly375=)
| |
| 8 | g.10612974C>G | CA370296301 | RP1L1 | c.1124G>C (p.Gly375Ala)
| |
| 8 | g.10612974C>T | CA370296302 | RP1L1 | c.1124G>A (p.Gly375Asp)
| dbSNP gnomAD v4 |
| 8 | g.10612977dup | CA2686114151 | RP1L1 | c.1124dup (p.Phe376LeufsTer?)
| gnomAD v4 |
| 8 | g.10612975C>A | CA370296306 | RP1L1 | c.1123G>T (p.Gly375Cys)
| gnomAD v4 |
| 8 | g.10612975C= | CA1763379273 | RP1L1 | c.1123G= (p.Gly375=)
| |
| 8 | g.10612975C>G | CA4625306 | RP1L1 | c.1123G>C (p.Gly375Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612975C>T | CA370296304 | RP1L1 | c.1123G>A (p.Gly375Ser)
| |
| 8 | g.10612976C>A | CA370296308 | RP1L1 | c.1122G>T (p.Trp374Cys)
| |
| 8 | g.10612976C= | CA1763379275 | RP1L1 | c.1122G= (p.Trp374=)
| |
| 8 | g.10612976C>G | CA370296310 | RP1L1 | c.1122G>C (p.Trp374Cys)
| |
| 8 | g.10612976C>T | CA370296312 | RP1L1 | c.1122G>A (p.Trp374Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612977C>A | CA370296314 | RP1L1 | c.1121G>T (p.Trp374Leu)
| |
| 8 | g.10612977C>G | CA370296315 | RP1L1 | c.1121G>C (p.Trp374Ser)
| |
| 8 | g.10612977C>T | CA370296317 | RP1L1 | c.1121G>A (p.Trp374Ter)
| |
