UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.204154983T>C | CA2650012199 | REN | c.*33A>G (n.*33A>G) | gnomAD v4 |
| 1 | g.204154984G>A | CA2573986558 | REN | c.*32C>T (n.*32C>T) | gnomAD v4 |
| 1 | g.204154985A>C | CA2573986629 | REN | c.*31T>G (n.*31T>G) | |
| 1 | g.204154985A>G | CA2573986673 | REN | c.*31T>C (n.*31T>C) | |
| 1 | g.204154986del | CA2747425803 | REN | c.*31del (n.*31del) | |
| 1 | g.204154986A= | CA2482055127 | REN | c.*30T= (n.*30T=) | |
| 1 | g.204154986A>G | CA2482055129 | REN | c.*30T>C (n.*30T>C) | dbSNP |
| 1 | g.204154987G>A | CA2482055131 | REN | c.*29C>T (n.*29C>T) | dbSNP |
| 1 | g.204154987G= | CA2482055130 | REN | c.*29C= (n.*29C=) | |
| 1 | g.204154988G>A | CA528532067 | REN | c.*28C>T (n.*28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.204154988G= | CA2482055133 | REN | c.*28C= (n.*28C=) | |
| 1 | g.204154988G>T | CA2650012200 | REN | c.*28C>A (n.*28C>A) | gnomAD v4 |
| 1 | g.204154989C= | CA2482055135 | REN | c.*27G= (n.*27G=) | |
| 1 | g.204154990dup | CA730335127 | REN | c.*26dup (n.*26dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.204154991G>A | CA2482055140 | REN | c.*25C>T (n.*25C>T) | dbSNP |
| 1 | g.204154991G= | CA2482055138 | REN | c.*25C= (n.*25C=) | |
| 1 | g.204154993_204155006del | CA2747425804 | REN | c.*12_*25del (n.*12_*25del) | |
| 1 | g.204154992G>A | CA1344619 | REN | c.*24C>T (n.*24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204154992G= | CA2482055142 | REN | c.*24C= (n.*24C=) | |
| 1 | g.204154992G>T | CA2573986675 | REN | c.*24C>A (n.*24C>A) | |
| 1 | g.204154993G>A | CA2482055144 | REN | c.*23C>T (n.*23C>T) | dbSNP gnomAD v4 |
| 1 | g.204154993G>C | CA2573986677 | REN | c.*23C>G (n.*23C>G) | |
| 1 | g.204154993G= | CA2482055143 | REN | c.*23C= (n.*23C=) | |
| 1 | g.204154994C>G | CA2650012201 | REN | c.*22G>C (n.*22G>C) | gnomAD v4 |
| 1 | g.204154997G>A | CA1344620 | REN | c.*19C>T (n.*19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204154997G>C | CA2650012202 | REN | c.*19C>G (n.*19C>G) | gnomAD v4 |
| 1 | g.204154997G= | CA2482055145 | REN | c.*19C= (n.*19C=) | |
| 1 | g.204154997G>T | CA2650012203 | REN | c.*19C>A (n.*19C>A) | gnomAD v4 |
| 1 | g.204154997_204154998insT | CA646367543 | REN | c.*18_*19insA (n.*18_*19insA) | COSMIC COSMIC |
| 1 | g.204155000_204155002delinsTGG | CA2482055146 | REN | c.*14_*16delinsCCA (n.*14_*16delinsCCA) | |
| 1 | g.204155001G>A | CA2482055149 | REN | c.*15C>T (n.*15C>T) | dbSNP gnomAD v4 |
| 1 | g.204155001G>C | CA2482055147 | REN | c.*15C>G (n.*15C>G) | dbSNP |
| 1 | g.204155001G= | CA2482055148 | REN | c.*15C= (n.*15C=) | |
| 1 | g.204155001G>T | CA2747425805 | REN | c.*15C>A (n.*15C>A) | |
| 1 | g.204155002_204155003del | CA1344621 | REN | c.*14_*15del (n.*14_*15del) | dbSNP ExAC gnomAD v4 |
| 1 | g.204155004T>G | CA2650012204 | REN | c.*12A>C (n.*12A>C) | gnomAD v4 |
| 1 | g.204155007C>G | CA2573986682 | REN | c.*9G>C (n.*9G>C) | gnomAD v4 |
| 1 | g.204155009del | CA2650012205 | REN | c.*7del (n.*7del) | gnomAD v4 |
| 1 | g.204155011G>A | CA1344622 | REN | c.*5C>T (n.*5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155011G= | CA2482055150 | REN | c.*5C= (n.*5C=) | |
| 1 | g.204155012G>A | CA2482055151 | REN | c.*4C>T (n.*4C>T) | dbSNP |
| 1 | g.204155012G= | CA2482055152 | REN | c.*4C= (n.*4C=) | |
| 1 | g.204155013G>T | CA2650012206 | REN | c.*3C>A (n.*3C>A) | gnomAD v4 |
| 1 | g.204155014C>A | CA2650012207 | REN | c.*2G>T (n.*2G>T) | gnomAD v4 |
| 1 | g.204155014C>T | CA2650012208 | REN | c.*2G>A (n.*2G>A) | gnomAD v4 |
| 1 | g.204155015C>A | CA1344623 | REN | c.*1G>T (n.*1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204155015C= | CA2482055153 | REN | c.*1G= (n.*1G=) | |
| 1 | g.204155015C>T | CA2650012209 | REN | c.*1G>A (n.*1G>A) | gnomAD v4 |
| 1 | g.204155016T>A | CA344332137 | REN | c.1221A>T (p.Ter407Cys) c.1107A>T (p.Ter369Cys) | |
| 1 | g.204155016T>C | CA344332138 | REN | c.1221A>G (p.Ter407Trp) c.1107A>G (p.Ter369Trp) | |
| 1 | g.204155016T>G | CA344332139 | REN | c.1221A>C (p.Ter407Cys) c.1107A>C (p.Ter369Cys) | |
| 1 | g.204155017C>A | CA1344624 | REN | c.1220G>T (p.Ter407Leu) c.1106G>T (p.Ter369Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155017C= | CA1143438997 | REN | c.1220G= (p.Ter407=) c.1106G= (p.Ter369=) | |
| 1 | g.204155017C>G | CA344332140 | REN | c.1220G>C (p.Ter407Ser) c.1106G>C (p.Ter369Ser) | |
| 1 | g.204155017C>T | CA1344625 | REN | c.1220G>A (p.Ter407=) c.1106G>A (p.Ter369=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155018A>C | CA344332141 | REN | c.1219T>G (p.Ter407Gly) c.1105T>G (p.Ter369Gly) | |
| 1 | g.204155018A>G | CA344332142 | REN | c.1219T>C (p.Ter407Arg) c.1105T>C (p.Ter369Arg) | |
| 1 | g.204155018A>T | CA344332143 | REN | c.1219T>A (p.Ter407Arg) c.1105T>A (p.Ter369Arg) | |
| 1 | g.204155019G>A | CA422833038 | REN | c.1218C>T (p.Arg406=) c.1104C>T (p.Arg368=) | |
| 1 | g.204155019G>C | CA422833040 | REN | c.1218C>G (p.Arg406=) c.1104C>G (p.Arg368=) | |
| 1 | g.204155019G>T | CA422833042 | REN | c.1218C>A (p.Arg406=) c.1104C>A (p.Arg368=) | |
| 1 | g.204155020C>A | CA344332145 | REN | c.1217G>T (p.Arg406Leu) c.1103G>T (p.Arg368Leu) | |
| 1 | g.204155020C= | CA1144237452 | REN | c.1217G= (p.Arg406=) c.1103G= (p.Arg368=) | |
| 1 | g.204155020C>G | CA344332144 | REN | c.1217G>C (p.Arg406Pro) c.1103G>C (p.Arg368Pro) | |
| 1 | g.204155020C>T | CA1344626 | REN | c.1217G>A (p.Arg406His) c.1103G>A (p.Arg368His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204155021G>A | CA1344627 | REN | c.1216C>T (p.Arg406Cys) c.1102C>T (p.Arg368Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155021G>C | CA344332146 | REN | c.1216C>G (p.Arg406Gly) c.1102C>G (p.Arg368Gly) | gnomAD v4 |
| 1 | g.204155021G= | CA1145772282 | REN | c.1216C= (p.Arg406=) c.1102C= (p.Arg368=) | |
| 1 | g.204155021G>T | CA344332147 | REN | c.1216C>A (p.Arg406Ser) c.1102C>A (p.Arg368Ser) | |
| 1 | g.204155022G>A | CA422833046 | REN | c.1215C>T (p.Ala405=) c.1101C>T (p.Ala367=) | |
| 1 | g.204155022G>C | CA422833047 | REN | c.1215C>G (p.Ala405=) c.1101C>G (p.Ala367=) | |
| 1 | g.204155022G>T | CA422833050 | REN | c.1215C>A (p.Ala405=) c.1101C>A (p.Ala367=) | |
| 1 | g.204155023G>A | CA344332148 | REN | c.1214C>T (p.Ala405Val) c.1100C>T (p.Ala367Val) | |
| 1 | g.204155023G>C | CA344332149 | REN | c.1214C>G (p.Ala405Gly) c.1100C>G (p.Ala367Gly) | |
| 1 | g.204155023G>T | CA344332150 | REN | c.1214C>A (p.Ala405Asp) c.1100C>A (p.Ala367Asp) | |
| 1 | g.204155024C>A | CA344332151 | REN | c.1213G>T (p.Ala405Ser) c.1099G>T (p.Ala367Ser) | |
| 1 | g.204155024C>G | CA344332152 | REN | c.1213G>C (p.Ala405Pro) c.1099G>C (p.Ala367Pro) | |
| 1 | g.204155024C>T | CA344332153 | REN | c.1213G>A (p.Ala405Thr) c.1099G>A (p.Ala367Thr) | COSMIC |
| 1 | g.204155025C>A | CA344332154 | REN | c.1212G>T (p.Leu404Phe) c.1098G>T (p.Leu366Phe) | gnomAD v4 |
| 1 | g.204155025C= | CA2482055155 | REN | c.1212G= (p.Leu404=) c.1098G= (p.Leu366=) | |
| 1 | g.204155025C>G | CA344332155 | REN | c.1212G>C (p.Leu404Phe) c.1098G>C (p.Leu366Phe) | |
| 1 | g.204155025C>T | CA1344628 | REN | c.1212G>A (p.Leu404=) c.1098G>A (p.Leu366=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155026A>C | CA344332157 | REN | c.1211T>G (p.Leu404Trp) c.1097T>G (p.Leu366Trp) | |
| 1 | g.204155026A>G | CA344332158 | REN | c.1211T>C (p.Leu404Ser) c.1097T>C (p.Leu366Ser) | |
| 1 | g.204155026A>T | CA344332156 | REN | c.1211T>A (p.Leu404Ter) c.1097T>A (p.Leu366Ter) | |
| 1 | g.204155027A>C | CA344332160 | REN | c.1210T>G (p.Leu404Val) c.1096T>G (p.Leu366Val) | |
| 1 | g.204155027A>G | CA422833055 | REN | c.1210T>C (p.Leu404=) c.1096T>C (p.Leu366=) | |
| 1 | g.204155027A>T | CA344332159 | REN | c.1210T>A (p.Leu404Met) c.1096T>A (p.Leu366Met) | |
| 1 | g.204155028G>A | CA422833057 | REN | c.1209C>T (p.Ala403=) c.1095C>T (p.Ala365=) | gnomAD v4 |
| 1 | g.204155028G>C | CA1344629 | REN | c.1209C>G (p.Ala403=) c.1095C>G (p.Ala365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204155028G= | CA2482055159 | REN | c.1209C= (p.Ala403=) c.1095C= (p.Ala365=) | |
| 1 | g.204155028G>T | CA422833058 | REN | c.1209C>A (p.Ala403=) c.1095C>A (p.Ala365=) | |
| 1 | g.204155029G>A | CA344332161 | REN | c.1208C>T (p.Ala403Val) c.1094C>T (p.Ala365Val) | |
| 1 | g.204155029G>C | CA344332162 | REN | c.1208C>G (p.Ala403Gly) c.1094C>G (p.Ala365Gly) | |
| 1 | g.204155029G>T | CA344332163 | REN | c.1208C>A (p.Ala403Asp) c.1094C>A (p.Ala365Asp) | |
| 1 | g.204155030C>A | CA344332166 | REN | c.1207G>T (p.Ala403Ser) c.1093G>T (p.Ala365Ser) | |
| 1 | g.204155030C= | CA1140116662 | REN | c.1207G= (p.Ala403=) c.1093G= (p.Ala365=) | |
| 1 | g.204155030C>G | CA344332165 | REN | c.1207G>C (p.Ala403Pro) c.1093G>C (p.Ala365Pro) | dbSNP |
| 1 | g.204155030C>T | CA344332164 | REN | c.1207G>A (p.Ala403Thr) c.1093G>A (p.Ala365Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.204155031G>A | CA1344630 | REN | c.1206C>T (p.Phe402=) c.1092C>T (p.Phe364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204155031G>C | CA344332167 | REN | c.1206C>G (p.Phe402Leu) c.1092C>G (p.Phe364Leu) | |
| 1 | g.204155031G= | CA2482055166 | REN | c.1206C= (p.Phe402=) c.1092C= (p.Phe364=) | |
| 1 | g.204155031G>T | CA344332168 | REN | c.1206C>A (p.Phe402Leu) c.1092C>A (p.Phe364Leu) | gnomAD v4 |
| 1 | g.204155032A>C | CA344332169 | REN | c.1205T>G (p.Phe402Cys) c.1091T>G (p.Phe364Cys) | |
| 1 | g.204155032A>G | CA344332170 | REN | c.1205T>C (p.Phe402Ser) c.1091T>C (p.Phe364Ser) | |
| 1 | g.204155032A>T | CA344332171 | REN | c.1205T>A (p.Phe402Tyr) c.1091T>A (p.Phe364Tyr) | |
| 1 | g.204155033A>C | CA344332172 | REN | c.1204T>G (p.Phe402Val) c.1090T>G (p.Phe364Val) | |
| 1 | g.204155033A>G | CA344332174 | REN | c.1204T>C (p.Phe402Leu) c.1090T>C (p.Phe364Leu) | |
| 1 | g.204155033A>T | CA344332173 | REN | c.1204T>A (p.Phe402Ile) c.1090T>A (p.Phe364Ile) | |
| 1 | g.204155034G>A | CA422833064 | REN | c.1203C>T (p.Gly401=) c.1089C>T (p.Gly363=) | gnomAD v4 |
| 1 | g.204155034G>C | CA422833065 | REN | c.1203C>G (p.Gly401=) c.1089C>G (p.Gly363=) | |
| 1 | g.204155034G>T | CA422833066 | REN | c.1203C>A (p.Gly401=) c.1089C>A (p.Gly363=) | |
| 1 | g.204155035C>A | CA344332175 | REN | c.1202G>T (p.Gly401Val) c.1088G>T (p.Gly363Val) | COSMIC |
| 1 | g.204155035C>G | CA344332176 | REN | c.1202G>C (p.Gly401Ala) c.1088G>C (p.Gly363Ala) | |
| 1 | g.204155035C>T | CA344332177 | REN | c.1202G>A (p.Gly401Asp) c.1088G>A (p.Gly363Asp) | gnomAD v4 |
| 1 | g.204155036C>A | CA344332178 | REN | c.1201G>T (p.Gly401Cys) c.1087G>T (p.Gly363Cys) | |
| 1 | g.204155036C>G | CA344332179 | REN | c.1201G>C (p.Gly401Arg) c.1087G>C (p.Gly363Arg) | |
| 1 | g.204155036C>T | CA344332180 | REN | c.1201G>A (p.Gly401Ser) c.1087G>A (p.Gly363Ser) | |
| 1 | g.204155037A>C | CA344332181 | REN | c.1200T>G (p.Ile400Met) c.1086T>G (p.Ile362Met) | |
| 1 | g.204155037A>G | CA422833075 | REN | c.1200T>C (p.Ile400=) c.1086T>C (p.Ile362=) | |
| 1 | g.204155037A>T | CA422833074 | REN | c.1200T>A (p.Ile400=) c.1086T>A (p.Ile362=) | |
| 1 | g.204155038A>C | CA344332182 | REN | c.1199T>G (p.Ile400Ser) c.1085T>G (p.Ile362Ser) | |
| 1 | g.204155038A>G | CA344332183 | REN | c.1199T>C (p.Ile400Thr) c.1085T>C (p.Ile362Thr) | |
| 1 | g.204155038A>T | CA344332184 | REN | c.1199T>A (p.Ile400Asn) c.1085T>A (p.Ile362Asn) | |
| 1 | g.204155039T>A | CA344332187 | REN | c.1198A>T (p.Ile400Phe) c.1084A>T (p.Ile362Phe) | |
| 1 | g.204155039T>C | CA344332186 | REN | c.1198A>G (p.Ile400Val) c.1084A>G (p.Ile362Val) | |
| 1 | g.204155039T>G | CA344332185 | REN | c.1198A>C (p.Ile400Leu) c.1084A>C (p.Ile362Leu) | |
| 1 | g.204155040G>A | CA1344631 | REN | c.1197C>T (p.Arg399=) c.1083C>T (p.Arg361=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155040G>C | CA422833079 | REN | c.1197C>G (p.Arg399=) c.1083C>G (p.Arg361=) | |
| 1 | g.204155040G= | CA1141917634 | REN | c.1197C= (p.Arg399=) c.1083C= (p.Arg361=) | |
| 1 | g.204155040G>T | CA422833080 | REN | c.1197C>A (p.Arg399=) c.1083C>A (p.Arg361=) | |
| 1 | g.204155041C>A | CA344332188 | REN | c.1196G>T (p.Arg399Leu) c.1082G>T (p.Arg361Leu) | |
| 1 | g.204155041C= | CA1142079449 | REN | c.1196G= (p.Arg399=) c.1082G= (p.Arg361=) | |
| 1 | g.204155041C>G | CA344332189 | REN | c.1196G>C (p.Arg399Pro) c.1082G>C (p.Arg361Pro) | |
| 1 | g.204155041C>T | CA1344632 | REN | c.1196G>A (p.Arg399His) c.1082G>A (p.Arg361His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204155042G>A | CA1344633 | REN | c.1195C>T (p.Arg399Cys) c.1081C>T (p.Arg361Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155042G>C | CA344332190 | REN | c.1195C>G (p.Arg399Gly) c.1081C>G (p.Arg361Gly) | |
| 1 | g.204155042G= | CA2482055174 | REN | c.1195C= (p.Arg399=) c.1081C= (p.Arg361=) | |
| 1 | g.204155042G>T | CA344332191 | REN | c.1195C>A (p.Arg399Ser) c.1081C>A (p.Arg361Ser) | gnomAD v4 |
| 1 | g.204155043G>A | CA422833084 | REN | c.1194C>T (p.Asn398=) c.1080C>T (p.Asn360=) | dbSNP gnomAD v2 |
| 1 | g.204155043G>C | CA344332192 | REN | c.1194C>G (p.Asn398Lys) c.1080C>G (p.Asn360Lys) | |
| 1 | g.204155043G= | CA2482055178 | REN | c.1194C= (p.Asn398=) c.1080C= (p.Asn360=) | |
| 1 | g.204155043G>T | CA344332193 | REN | c.1194C>A (p.Asn398Lys) c.1080C>A (p.Asn360Lys) | dbSNP gnomAD v4 |
| 1 | g.204155044T>A | CA344332194 | REN | c.1193A>T (p.Asn398Ile) c.1079A>T (p.Asn360Ile) | |
| 1 | g.204155044T>C | CA344332195 | REN | c.1193A>G (p.Asn398Ser) c.1079A>G (p.Asn360Ser) | |
| 1 | g.204155044T>G | CA344332196 | REN | c.1193A>C (p.Asn398Thr) c.1079A>C (p.Asn360Thr) | |
| 1 | g.204155045T>A | CA344332198 | REN | c.1192A>T (p.Asn398Tyr) c.1078A>T (p.Asn360Tyr) | |
| 1 | g.204155045T>C | CA1344634 | REN | c.1192A>G (p.Asn398Asp) c.1078A>G (p.Asn360Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204155045T>G | CA344332197 | REN | c.1192A>C (p.Asn398His) c.1078A>C (p.Asn360His) | |
| 1 | g.204155045T= | CA1148248790 | REN | c.1192A= (p.Asn398=) c.1078A= (p.Asn360=) | |
| 1 | g.204155046G>A | CA422833090 | REN | c.1191C>T (p.Asn397=) c.1077C>T (p.Asn359=) | |
| 1 | g.204155046G>C | CA344332199 | REN | c.1191C>G (p.Asn397Lys) c.1077C>G (p.Asn359Lys) | |
| 1 | g.204155046G= | CA2482055187 | REN | c.1191C= (p.Asn397=) c.1077C= (p.Asn359=) | |
| 1 | g.204155046G>T | CA344332200 | REN | c.1191C>A (p.Asn397Lys) c.1077C>A (p.Asn359Lys) | dbSNP |
| 1 | g.204155047T>A | CA344332201 | REN | c.1190A>T (p.Asn397Ile) c.1076A>T (p.Asn359Ile) | |
| 1 | g.204155047T>C | CA344332202 | REN | c.1190A>G (p.Asn397Ser) c.1076A>G (p.Asn359Ser) | |
| 1 | g.204155047T>G | CA344332203 | REN | c.1190A>C (p.Asn397Thr) c.1076A>C (p.Asn359Thr) | |
| 1 | g.204155048T>A | CA344332206 | REN | c.1189A>T (p.Asn397Tyr) c.1075A>T (p.Asn359Tyr) | |
| 1 | g.204155048T>C | CA344332204 | REN | c.1189A>G (p.Asn397Asp) c.1075A>G (p.Asn359Asp) | |
| 1 | g.204155048T>G | CA344332205 | REN | c.1189A>C (p.Asn397His) c.1075A>C (p.Asn359His) | |
| 1 | g.204155049A= | CA2482055190 | REN | c.1188T= (p.Arg396=) c.1074T= (p.Arg358=) | |
| 1 | g.204155049A>C | CA422833094 | REN | c.1188T>G (p.Arg396=) c.1074T>G (p.Arg358=) | |
| 1 | g.204155049A>G | CA422833096 | REN | c.1188T>C (p.Arg396=) c.1074T>C (p.Arg358=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.204155049A>T | CA422833097 | REN | c.1188T>A (p.Arg396=) c.1074T>A (p.Arg358=) | |
| 1 | g.204155050del | CA2650012217 | REN | c.1187del (p.Arg396LeufsTer?) c.1073del (p.Arg358LeufsTer?) | gnomAD v4 |
| 1 | g.204155050C>A | CA344332207 | REN | c.1187G>T (p.Arg396Leu) c.1073G>T (p.Arg358Leu) | |
| 1 | g.204155050C= | CA2482055192 | REN | c.1187G= (p.Arg396=) c.1073G= (p.Arg358=) | |
| 1 | g.204155050C>G | CA1344636 | REN | c.1187G>C (p.Arg396Pro) c.1073G>C (p.Arg358Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204155050C>T | CA1344635 | REN | c.1187G>A (p.Arg396His) c.1073G>A (p.Arg358His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204155051G>A | CA1344637 | REN | c.1186C>T (p.Arg396Cys) c.1072C>T (p.Arg358Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155051G>C | CA344332208 | REN | c.1186C>G (p.Arg396Gly) c.1072C>G (p.Arg358Gly) | |
| 1 | g.204155051G= | CA2482055196 | REN | c.1186C= (p.Arg396=) c.1072C= (p.Arg358=) | |
| 1 | g.204155051G>T | CA344332209 | REN | c.1186C>A (p.Arg396Ser) c.1072C>A (p.Arg358Ser) | |
| 1 | g.204155052C>A | CA422833102 | REN | c.1185G>T (p.Arg395=) c.1071G>T (p.Arg357=) | |
| 1 | g.204155052C>G | CA422833103 | REN | c.1185G>C (p.Arg395=) c.1071G>C (p.Arg357=) | |
| 1 | g.204155052C>T | CA422833104 | REN | c.1185G>A (p.Arg395=) c.1071G>A (p.Arg357=) | |
| 1 | g.204155053C>A | CA1344638 | REN | c.1184G>T (p.Arg395Leu) c.1070G>T (p.Arg357Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204155053C= | CA2482055198 | REN | c.1184G= (p.Arg395=) c.1070G= (p.Arg357=) | |
| 1 | g.204155053C>G | CA344332211 | REN | c.1184G>C (p.Arg395Pro) c.1070G>C (p.Arg357Pro) | |
| 1 | g.204155053C>T | CA344332210 | REN | c.1184G>A (p.Arg395Gln) c.1070G>A (p.Arg357Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.204155054G>A | CA1344639 | REN | c.1183C>T (p.Arg395Trp) c.1069C>T (p.Arg357Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155054G>C | CA344332212 | REN | c.1183C>G (p.Arg395Gly) c.1069C>G (p.Arg357Gly) | |
| 1 | g.204155054G= | CA2482055205 | REN | c.1183C= (p.Arg395=) c.1069C= (p.Arg357=) | |
| 1 | g.204155054G>T | CA1344640 | REN | c.1183C>A (p.Arg395=) c.1069C>A (p.Arg357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155055A>C | CA344332213 | REN | c.1182T>G (p.Asp394Glu) c.1068T>G (p.Asp356Glu) | |
| 1 | g.204155055A>G | CA422833105 | REN | c.1182T>C (p.Asp394=) c.1068T>C (p.Asp356=) | |
| 1 | g.204155055A>T | CA344332214 | REN | c.1182T>A (p.Asp394Glu) c.1068T>A (p.Asp356Glu) | |
| 1 | g.204155056T>A | CA344332215 | REN | c.1181A>T (p.Asp394Val) c.1067A>T (p.Asp356Val) | |
| 1 | g.204155056T>C | CA344332216 | REN | c.1181A>G (p.Asp394Gly) c.1067A>G (p.Asp356Gly) | |
| 1 | g.204155056T>G | CA344332217 | REN | c.1181A>C (p.Asp394Ala) c.1067A>C (p.Asp356Ala) | |
| 1 | g.204155057C>A | CA344332218 | REN | c.1180G>T (p.Asp394Tyr) c.1066G>T (p.Asp356Tyr) | |
| 1 | g.204155057C>G | CA344332219 | REN | c.1180G>C (p.Asp394His) c.1066G>C (p.Asp356His) | |
| 1 | g.204155057C>T | CA344332220 | REN | c.1180G>A (p.Asp394Asn) c.1066G>A (p.Asp356Asn) | |
| 1 | g.204155058A>C | CA344332221 | REN | c.1179T>G (p.Phe393Leu) c.1065T>G (p.Phe355Leu) | |
| 1 | g.204155058A>G | CA422833113 | REN | c.1179T>C (p.Phe393=) c.1065T>C (p.Phe355=) | |
| 1 | g.204155058A>T | CA344332222 | REN | c.1179T>A (p.Phe393Leu) c.1065T>A (p.Phe355Leu) | |
| 1 | g.204155059A>C | CA344332223 | REN | c.1178T>G (p.Phe393Cys) c.1064T>G (p.Phe355Cys) | |
| 1 | g.204155059A>G | CA344332224 | REN | c.1178T>C (p.Phe393Ser) c.1064T>C (p.Phe355Ser) | |
| 1 | g.204155059A>T | CA344332225 | REN | c.1178T>A (p.Phe393Tyr) c.1064T>A (p.Phe355Tyr) | |
| 1 | g.204155060A>C | CA344332228 | REN | c.1177T>G (p.Phe393Val) c.1063T>G (p.Phe355Val) | |
| 1 | g.204155060A>G | CA344332226 | REN | c.1177T>C (p.Phe393Leu) c.1063T>C (p.Phe355Leu) | |
| 1 | g.204155060A>T | CA344332227 | REN | c.1177T>A (p.Phe393Ile) c.1063T>A (p.Phe355Ile) | |
| 1 | g.204155061C>A | CA344332229 | REN | c.1176G>T (p.Glu392Asp) c.1062G>T (p.Glu354Asp) | |
| 1 | g.204155061C>G | CA344332230 | REN | c.1176G>C (p.Glu392Asp) c.1062G>C (p.Glu354Asp) | |
| 1 | g.204155061C>T | CA422833119 | REN | c.1176G>A (p.Glu392=) c.1062G>A (p.Glu354=) | ClinVar gnomAD v4 |
| 1 | g.204155063_204155064del | CA2650012227 | REN | c.1175_1176del (p.Glu392ValfsTer2) c.1061_1062del (p.Glu354ValfsTer2) | gnomAD v4 |
| 1 | g.204155062T>A | CA344332231 | REN | c.1175A>T (p.Glu392Val) c.1061A>T (p.Glu354Val) | |
| 1 | g.204155062T>C | CA344332232 | REN | c.1175A>G (p.Glu392Gly) c.1061A>G (p.Glu354Gly) | |
| 1 | g.204155062T>G | CA344332233 | REN | c.1175A>C (p.Glu392Ala) c.1061A>C (p.Glu354Ala) | |
| 1 | g.204155063C>A | CA344332234 | REN | c.1174G>T (p.Glu392Ter) c.1060G>T (p.Glu354Ter) | |
| 1 | g.204155063C>G | CA344332235 | REN | c.1174G>C (p.Glu392Gln) c.1060G>C (p.Glu354Gln) | |
| 1 | g.204155063C>T | CA344332236 | REN | c.1174G>A (p.Glu392Lys) c.1060G>A (p.Glu354Lys) | |
| 1 | g.204155064del | CA2650012228 | REN | c.1173del (p.Glu392SerfsTer?) c.1059del (p.Glu354SerfsTer?) | gnomAD v4 |
| 1 | g.204155064T>A | CA422833123 | REN | c.1173A>T (p.Thr391=) c.1059A>T (p.Thr353=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.204155064T>C | CA422833126 | REN | c.1173A>G (p.Thr391=) c.1059A>G (p.Thr353=) | gnomAD v4 |
| 1 | g.204155064T>G | CA422833128 | REN | c.1173A>C (p.Thr391=) c.1059A>C (p.Thr353=) | |
| 1 | g.204155064T= | CA2482055207 | REN | c.1173A= (p.Thr391=) c.1059A= (p.Thr353=) | |
| 1 | g.204155067_204155068del | CA2650012231 | REN | c.1172_1173del (p.Thr391ArgfsTer3) c.1058_1059del (p.Thr353ArgfsTer3) | gnomAD v4 |
| 1 | g.204155065G>A | CA344332237 | REN | c.1172C>T (p.Thr391Ile) c.1058C>T (p.Thr353Ile) | gnomAD v4 |
| 1 | g.204155065G>C | CA344332238 | REN | c.1172C>G (p.Thr391Arg) c.1058C>G (p.Thr353Arg) | |
| 1 | g.204155065G>T | CA344332239 | REN | c.1172C>A (p.Thr391Lys) c.1058C>A (p.Thr353Lys) | |
| 1 | g.204155066T>A | CA344332240 | REN | c.1171A>T (p.Thr391Ser) c.1057A>T (p.Thr353Ser) | |
| 1 | g.204155066T>C | CA1344641 | REN | c.1171A>G (p.Thr391Ala) c.1057A>G (p.Thr353Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204155066T>G | CA35732283 | REN | c.1171A>C (p.Thr391Pro) c.1057A>C (p.Thr353Pro) | dbSNP |
| 1 | g.204155066T= | CA2482055209 | REN | c.1171A= (p.Thr391=) c.1057A= (p.Thr353=) | |
| 1 | g.204155067G>A | CA422833129 | REN | c.1170C>T (p.Tyr390=) c.1056C>T (p.Tyr352=) | |
| 1 | g.204155067G>C | CA344332241 | REN | c.1170C>G (p.Tyr390Ter) c.1056C>G (p.Tyr352Ter) | |
| 1 | g.204155067G>T | CA344332242 | REN | c.1170C>A (p.Tyr390Ter) c.1056C>A (p.Tyr352Ter) | |
| 1 | g.204155068T>A | CA344332243 | REN | c.1169A>T (p.Tyr390Phe) c.1055A>T (p.Tyr352Phe) | |
| 1 | g.204155068T>C | CA344332244 | REN | c.1169A>G (p.Tyr390Cys) c.1055A>G (p.Tyr352Cys) | |
| 1 | g.204155068T>G | CA344332245 | REN | c.1169A>C (p.Tyr390Ser) c.1055A>C (p.Tyr352Ser) | |
| 1 | g.204155069A= | CA1144110545 | REN | c.1168T= (p.Tyr390=) c.1054T= (p.Tyr352=) | |
| 1 | g.204155069A>C | CA344332246 | REN | c.1168T>G (p.Tyr390Asp) c.1054T>G (p.Tyr352Asp) | |
| 1 | g.204155069A>G | CA35732284 | REN | c.1168T>C (p.Tyr390His) c.1054T>C (p.Tyr352His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155069A>T | CA344332247 | REN | c.1168T>A (p.Tyr390Asn) c.1054T>A (p.Tyr352Asn) | |
| 1 | g.204155070G>A | CA422833131 | REN | c.1167C>T (p.Phe389=) c.1053C>T (p.Phe351=) | |
| 1 | g.204155070G>C | CA344332248 | REN | c.1167C>G (p.Phe389Leu) c.1053C>G (p.Phe351Leu) | |
| 1 | g.204155070G>T | CA344332249 | REN | c.1167C>A (p.Phe389Leu) c.1053C>A (p.Phe351Leu) | |
| 1 | g.204155071A>C | CA344332250 | REN | c.1166T>G (p.Phe389Cys) c.1052T>G (p.Phe351Cys) | |
| 1 | g.204155071A>G | CA344332251 | REN | c.1166T>C (p.Phe389Ser) c.1052T>C (p.Phe351Ser) | |
| 1 | g.204155071A>T | CA344332252 | REN | c.1166T>A (p.Phe389Tyr) c.1052T>A (p.Phe351Tyr) | |
| 1 | g.204155072A>C | CA344332255 | REN | c.1165T>G (p.Phe389Val) c.1051T>G (p.Phe351Val) | |
| 1 | g.204155072A>G | CA344332253 | REN | c.1165T>C (p.Phe389Leu) c.1051T>C (p.Phe351Leu) | |
| 1 | g.204155072A>T | CA344332254 | REN | c.1165T>A (p.Phe389Ile) c.1051T>A (p.Phe351Ile) | |
| 1 | g.204155073C>A | CA344332256 | REN | c.1164G>T (p.Lys388Asn) c.1050G>T (p.Lys350Asn) | |
| 1 | g.204155073C>G | CA344332257 | REN | c.1164G>C (p.Lys388Asn) c.1050G>C (p.Lys350Asn) | |
| 1 | g.204155073C>T | CA422833135 | REN | c.1164G>A (p.Lys388=) c.1050G>A (p.Lys350=) | |
| 1 | g.204155074T>A | CA344332258 | REN | c.1163A>T (p.Lys388Met) c.1049A>T (p.Lys350Met) | |
| 1 | g.204155074T>C | CA344332259 | REN | c.1163A>G (p.Lys388Arg) c.1049A>G (p.Lys350Arg) | |
| 1 | g.204155074T>G | CA344332260 | REN | c.1163A>C (p.Lys388Thr) c.1049A>C (p.Lys350Thr) | |
| 1 | g.204155075T>A | CA344332261 | REN | c.1162A>T (p.Lys388Ter) c.1048A>T (p.Lys350Ter) | |
| 1 | g.204155075T>C | CA344332262 | REN | c.1162A>G (p.Lys388Glu) c.1048A>G (p.Lys350Glu) | |
| 1 | g.204155075T>G | CA344332263 | REN | c.1162A>C (p.Lys388Gln) c.1048A>C (p.Lys350Gln) | |
| 1 | g.204155076T>A | CA422833138 | REN | c.1161A>T (p.Arg387=) c.1047A>T (p.Arg349=) | |
| 1 | g.204155076T>C | CA422833140 | REN | c.1161A>G (p.Arg387=) c.1047A>G (p.Arg349=) | |
| 1 | g.204155076T>G | CA422833143 | REN | c.1161A>C (p.Arg387=) c.1047A>C (p.Arg349=) | |
| 1 | g.204155077C>A | CA344332264 | REN | c.1160G>T (p.Arg387Leu) c.1046G>T (p.Arg349Leu) | |
| 1 | g.204155077C= | CA1143799273 | REN | c.1160G= (p.Arg387=) c.1046G= (p.Arg349=) | |
| 1 | g.204155077C>G | CA344332265 | REN | c.1160G>C (p.Arg387Pro) c.1046G>C (p.Arg349Pro) | |
| 1 | g.204155077C>T | CA1344642 | REN | c.1160G>A (p.Arg387Gln) c.1046G>A (p.Arg349Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155078G>A | CA122844 | REN | c.1159C>T (p.Arg387Ter) c.1045C>T (p.Arg349Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.204155078G>C | CA344332266 | REN | c.1159C>G (p.Arg387Gly) c.1045C>G (p.Arg349Gly) | |
| 1 | g.204155078G= | CA1141581508 | REN | c.1159C= (p.Arg387=) c.1045C= (p.Arg349=) | |
| 1 | g.204155078G>T | CA422833145 | REN | c.1159C>A (p.Arg387=) c.1045C>A (p.Arg349=) | |
| 1 | g.204155079G>A | CA422833146 | REN | c.1158C>T (p.Ile386=) c.1044C>T (p.Ile348=) | |
| 1 | g.204155079G>C | CA344332267 | REN | c.1158C>G (p.Ile386Met) c.1044C>G (p.Ile348Met) | |
| 1 | g.204155079G>T | CA422833147 | REN | c.1158C>A (p.Ile386=) c.1044C>A (p.Ile348=) | |
| 1 | g.204155080A= | CA2482055222 | REN | c.1157T= (p.Ile386=) c.1043T= (p.Ile348=) | |
| 1 | g.204155080A>C | CA344332268 | REN | c.1157T>G (p.Ile386Ser) c.1043T>G (p.Ile348Ser) | |
| 1 | g.204155080A>G | CA1344643 | REN | c.1157T>C (p.Ile386Thr) c.1043T>C (p.Ile348Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204155080A>T | CA344332269 | REN | c.1157T>A (p.Ile386Asn) c.1043T>A (p.Ile348Asn) | |
| 1 | g.204155081T>A | CA344332270 | REN | c.1156A>T (p.Ile386Phe) c.1042A>T (p.Ile348Phe) | |
| 1 | g.204155081T>C | CA35732289 | REN | c.1156A>G (p.Ile386Val) c.1042A>G (p.Ile348Val) | dbSNP |
| 1 | g.204155081T>G | CA344332271 | REN | c.1156A>C (p.Ile386Leu) c.1042A>C (p.Ile348Leu) | |
| 1 | g.204155081T= | CA2482055224 | REN | c.1156A= (p.Ile386=) c.1042A= (p.Ile348=) | |
| 1 | g.204155082G>A | CA422833151 | REN | c.1155C>T (p.Phe385=) c.1041C>T (p.Phe347=) | |
| 1 | g.204155082G>C | CA344332272 | REN | c.1155C>G (p.Phe385Leu) c.1041C>G (p.Phe347Leu) | |
| 1 | g.204155082G>T | CA344332273 | REN | c.1155C>A (p.Phe385Leu) c.1041C>A (p.Phe347Leu) |