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 |
|---|---|---|---|---|---|
| 3 | g.132680712_132680714del | CA2758453487 | NPHP3,NPHP3-ACAD11 | c.*1200_*1202del (n.*1200_*1202del) c.*1980+1204_*1980+1206del (n.*1980+1204_*1980+1206del) n.4392_4394del c.636+1204_636+1206del n.3995+1204_3995+1206del | |
| 3 | g.132680712G>A | CA546265315 | NPHP3,NPHP3-ACAD11 | c.*1198C>T (n.*1198C>T) c.*1980+1202C>T (n.*1980+1202C>T) n.4390C>T c.636+1202C>T n.3995+1202C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680712G= | CA1402644281 | NPHP3,NPHP3-ACAD11 | c.*1198C= (n.*1198C=) c.*1980+1202C= (n.*1980+1202C=) n.4390C= c.636+1202C= n.3995+1202C= | |
| 3 | g.132680714T>C | CA1402644284 | NPHP3,NPHP3-ACAD11 | c.*1196A>G (n.*1196A>G) c.*1980+1200A>G (n.*1980+1200A>G) n.4388A>G c.636+1200A>G n.3995+1200A>G | dbSNP |
| 3 | g.132680714T= | CA1402644283 | NPHP3,NPHP3-ACAD11 | c.*1196A= (n.*1196A=) c.*1980+1200A= (n.*1980+1200A=) n.4388A= c.636+1200A= n.3995+1200A= | |
| 3 | g.132680716T>G | CA83579317 | NPHP3,NPHP3-ACAD11 | c.*1194A>C (n.*1194A>C) c.*1980+1198A>C (n.*1980+1198A>C) n.4386A>C c.636+1198A>C n.3995+1198A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680716T= | CA1402644287 | NPHP3,NPHP3-ACAD11 | c.*1194A= (n.*1194A=) c.*1980+1198A= (n.*1980+1198A=) n.4386A= c.636+1198A= n.3995+1198A= | |
| 3 | g.132680719T>C | CA1402644291 | NPHP3,NPHP3-ACAD11 | c.*1191A>G (n.*1191A>G) c.*1980+1195A>G (n.*1980+1195A>G) n.4383A>G c.636+1195A>G n.3995+1195A>G | dbSNP |
| 3 | g.132680719T= | CA1402644289 | NPHP3,NPHP3-ACAD11 | c.*1191A= (n.*1191A=) c.*1980+1195A= (n.*1980+1195A=) n.4383A= c.636+1195A= n.3995+1195A= | |
| 3 | g.132680719_132680723delinsTTATA | CA1402644292 | NPHP3,NPHP3-ACAD11 | c.*1187_*1191delinsTATAA (n.*1187_*1191delinsTATAA) c.*1980+1191_*1980+1195delinsTATAA (n.*1980+1191_*1980+1195delinsTATAA) n.4379_4383delinsTATAA c.636+1191_636+1195delinsTATAA n.3995+1191_3995+1195delinsTATAA | |
| 3 | g.132680724_132680727del | CA1402644294 | NPHP3,NPHP3-ACAD11 | c.*1187_*1190del (n.*1187_*1190del) c.*1980+1191_*1980+1194del (n.*1980+1191_*1980+1194del) n.4379_4382del c.636+1191_636+1194del n.3995+1191_3995+1194del | dbSNP |
| 3 | g.132680722T>A | CA2581891692 | NPHP3,NPHP3-ACAD11 | c.*1188A>T (n.*1188A>T) c.*1980+1192A>T (n.*1980+1192A>T) n.4380A>T c.636+1192A>T n.3995+1192A>T | |
| 3 | g.132680722T>C | CA83579322 | NPHP3,NPHP3-ACAD11 | c.*1188A>G (n.*1188A>G) c.*1980+1192A>G (n.*1980+1192A>G) n.4380A>G c.636+1192A>G n.3995+1192A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680722T>G | CA2581891691 | NPHP3,NPHP3-ACAD11 | c.*1188A>C (n.*1188A>C) c.*1980+1192A>C (n.*1980+1192A>C) n.4380A>C c.636+1192A>C n.3995+1192A>C | |
| 3 | g.132680722T= | CA1402644298 | NPHP3,NPHP3-ACAD11 | c.*1188A= (n.*1188A=) c.*1980+1192A= (n.*1980+1192A=) n.4380A= c.636+1192A= n.3995+1192A= | |
| 3 | g.132680724T>A | CA83579326 | NPHP3,NPHP3-ACAD11 | c.*1186A>T (n.*1186A>T) c.*1980+1190A>T (n.*1980+1190A>T) n.4378A>T c.636+1190A>T n.3995+1190A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680724T>C | CA546265317 | NPHP3,NPHP3-ACAD11 | c.*1186A>G (n.*1186A>G) c.*1980+1190A>G (n.*1980+1190A>G) n.4378A>G c.636+1190A>G n.3995+1190A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680724T= | CA1402644310 | NPHP3,NPHP3-ACAD11 | c.*1186A= (n.*1186A=) c.*1980+1190A= (n.*1980+1190A=) n.4378A= c.636+1190A= n.3995+1190A= | |
| 3 | g.132680726T>A | CA1139658260 | NPHP3,NPHP3-ACAD11 | c.*1184A>T (n.*1184A>T) c.*1980+1188A>T (n.*1980+1188A>T) n.4376A>T c.636+1188A>T n.3995+1188A>T | ClinVar dbSNP |
| 3 | g.132680726T= | CA1402644314 | NPHP3,NPHP3-ACAD11 | c.*1184A= (n.*1184A=) c.*1980+1188A= (n.*1980+1188A=) n.4376A= c.636+1188A= n.3995+1188A= | |
| 3 | g.132680729A= | CA1402644321 | NPHP3,NPHP3-ACAD11 | c.*1181T= (n.*1181T=) c.*1980+1185T= (n.*1980+1185T=) n.4373T= c.636+1185T= n.3995+1185T= | |
| 3 | g.132680729A>G | CA83579329 | NPHP3,NPHP3-ACAD11 | c.*1181T>C (n.*1181T>C) c.*1980+1185T>C (n.*1980+1185T>C) n.4373T>C c.636+1185T>C n.3995+1185T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680732C>G | CA2560947035 | NPHP3,NPHP3-ACAD11 | c.*1178G>C (n.*1178G>C) c.*1980+1182G>C (n.*1980+1182G>C) n.4370G>C c.636+1182G>C n.3995+1182G>C | |
| 3 | g.132680733A= | CA1402644327 | NPHP3,NPHP3-ACAD11 | c.*1177T= (n.*1177T=) c.*1980+1181T= (n.*1980+1181T=) n.4369T= c.636+1181T= n.3995+1181T= | |
| 3 | g.132680733A>G | CA1053649536 | NPHP3,NPHP3-ACAD11 | c.*1177T>C (n.*1177T>C) c.*1980+1181T>C (n.*1980+1181T>C) n.4369T>C c.636+1181T>C n.3995+1181T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680734C= | CA1402644329 | NPHP3,NPHP3-ACAD11 | c.*1176G= (n.*1176G=) c.*1980+1180G= (n.*1980+1180G=) n.4368G= c.636+1180G= n.3995+1180G= | |
| 3 | g.132680734C>T | CA10617378 | NPHP3,NPHP3-ACAD11 | c.*1176G>A (n.*1176G>A) c.*1980+1180G>A (n.*1980+1180G>A) n.4368G>A c.636+1180G>A n.3995+1180G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680735A= | CA1402644332 | NPHP3,NPHP3-ACAD11 | c.*1175T= (n.*1175T=) c.*1980+1179T= (n.*1980+1179T=) n.4367T= c.636+1179T= n.3995+1179T= | |
| 3 | g.132680735A>C | CA83579335 | NPHP3,NPHP3-ACAD11 | c.*1175T>G (n.*1175T>G) c.*1980+1179T>G (n.*1980+1179T>G) n.4367T>G c.636+1179T>G n.3995+1179T>G | dbSNP |
| 3 | g.132680735A>G | CA1402644335 | NPHP3,NPHP3-ACAD11 | c.*1175T>C (n.*1175T>C) c.*1980+1179T>C (n.*1980+1179T>C) n.4367T>C c.636+1179T>C n.3995+1179T>C | dbSNP |
| 3 | g.132680739G= | CA1402644338 | NPHP3,NPHP3-ACAD11 | c.*1171C= (n.*1171C=) c.*1980+1175C= (n.*1980+1175C=) n.4363C= c.636+1175C= n.3995+1175C= | |
| 3 | g.132680739G>T | CA546265318 | NPHP3,NPHP3-ACAD11 | c.*1171C>A (n.*1171C>A) c.*1980+1175C>A (n.*1980+1175C>A) n.4363C>A c.636+1175C>A n.3995+1175C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132680740G= | CA1402644340 | NPHP3,NPHP3-ACAD11 | c.*1170C= (n.*1170C=) c.*1980+1174C= (n.*1980+1174C=) n.4362C= c.636+1174C= n.3995+1174C= | |
| 3 | g.132680740G>T | CA83579338 | NPHP3,NPHP3-ACAD11 | c.*1170C>A (n.*1170C>A) c.*1980+1174C>A (n.*1980+1174C>A) n.4362C>A c.636+1174C>A n.3995+1174C>A | dbSNP |
| 3 | g.132680748C>A | CA83579340 | NPHP3,NPHP3-ACAD11 | c.*1162G>T (n.*1162G>T) c.*1980+1166G>T (n.*1980+1166G>T) n.4354G>T c.636+1166G>T n.3995+1166G>T | dbSNP |
| 3 | g.132680748C= | CA1402644341 | NPHP3,NPHP3-ACAD11 | c.*1162G= (n.*1162G=) c.*1980+1166G= (n.*1980+1166G=) n.4354G= c.636+1166G= n.3995+1166G= | |
| 3 | g.132680748_132680750delinsCAA | CA1402644343 | NPHP3,NPHP3-ACAD11 | c.*1160_*1162delinsTTG (n.*1160_*1162delinsTTG) c.*1980+1164_*1980+1166delinsTTG (n.*1980+1164_*1980+1166delinsTTG) n.4352_4354delinsTTG c.636+1164_636+1166delinsTTG n.3995+1164_3995+1166delinsTTG | |
| 3 | g.132680749_132680750del | CA899012649 | NPHP3,NPHP3-ACAD11 | c.*1160_*1161del (n.*1160_*1161del) c.*1980+1164_*1980+1165del (n.*1980+1164_*1980+1165del) n.4352_4353del c.636+1164_636+1165del n.3995+1164_3995+1165del | dbSNP |
| 3 | g.132680750A= | CA1402644347 | NPHP3,NPHP3-ACAD11 | c.*1160T= (n.*1160T=) c.*1980+1164T= (n.*1980+1164T=) n.4352T= c.636+1164T= n.3995+1164T= | |
| 3 | g.132680750A>G | CA899012652 | NPHP3,NPHP3-ACAD11 | c.*1160T>C (n.*1160T>C) c.*1980+1164T>C (n.*1980+1164T>C) n.4352T>C c.636+1164T>C n.3995+1164T>C | dbSNP |
| 3 | g.132680753T>A | CA2607841208 | NPHP3,NPHP3-ACAD11 | c.*1157A>T (n.*1157A>T) c.*1980+1161A>T (n.*1980+1161A>T) n.4349A>T c.636+1161A>T n.3995+1161A>T | dbSNP gnomAD v4 |
| 3 | g.132680753T>C | CA1402644350 | NPHP3,NPHP3-ACAD11 | c.*1157A>G (n.*1157A>G) c.*1980+1161A>G (n.*1980+1161A>G) n.4349A>G c.636+1161A>G n.3995+1161A>G | dbSNP |
| 3 | g.132680753T= | CA1402644349 | NPHP3,NPHP3-ACAD11 | c.*1157A= (n.*1157A=) c.*1980+1161A= (n.*1980+1161A=) n.4349A= c.636+1161A= n.3995+1161A= | |
| 3 | g.132680754C>A | CA1053649544 | NPHP3,NPHP3-ACAD11 | c.*1156G>T (n.*1156G>T) c.*1980+1160G>T (n.*1980+1160G>T) n.4348G>T c.636+1160G>T n.3995+1160G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680754C= | CA1402644352 | NPHP3,NPHP3-ACAD11 | c.*1156G= (n.*1156G=) c.*1980+1160G= (n.*1980+1160G=) n.4348G= c.636+1160G= n.3995+1160G= | |
| 3 | g.132680756A= | CA1402644354 | NPHP3,NPHP3-ACAD11 | c.*1154T= (n.*1154T=) c.*1980+1158T= (n.*1980+1158T=) n.4346T= c.636+1158T= n.3995+1158T= | |
| 3 | g.132680756A>G | CA1402644356 | NPHP3,NPHP3-ACAD11 | c.*1154T>C (n.*1154T>C) c.*1980+1158T>C (n.*1980+1158T>C) n.4346T>C c.636+1158T>C n.3995+1158T>C | dbSNP |
| 3 | g.132680758A= | CA1402644358 | NPHP3,NPHP3-ACAD11 | c.*1152T= (n.*1152T=) c.*1980+1156T= (n.*1980+1156T=) n.4344T= c.636+1156T= n.3995+1156T= | |
| 3 | g.132680758A>T | CA83579344 | NPHP3,NPHP3-ACAD11 | c.*1152T>A (n.*1152T>A) c.*1980+1156T>A (n.*1980+1156T>A) n.4344T>A c.636+1156T>A n.3995+1156T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.132680761G>T | CA2758453488 | NPHP3,NPHP3-ACAD11 | c.*1149C>A (n.*1149C>A) c.*1980+1153C>A (n.*1980+1153C>A) n.4341C>A c.636+1153C>A n.3995+1153C>A |