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 |
|---|---|---|---|---|---|
| 17 | g.6425410G>A | CA2635688801 | AIPL1 | c.*50C>T (n.*50C>T) c.*1077C>T (n.*1077C>T) c.251+8509C>T c.*1176C>T (n.*1176C>T) c.*223C>T (n.*223C>T) | gnomAD v4 |
| 17 | g.6425410G>C | CA2635688802 | AIPL1 | c.*50C>G (n.*50C>G) c.*1077C>G (n.*1077C>G) c.251+8509C>G c.*1176C>G (n.*1176C>G) c.*223C>G (n.*223C>G) | gnomAD v4 |
| 17 | g.6425411T>A | CA8328288 | AIPL1 | c.*49A>T (n.*49A>T) c.*1076A>T (n.*1076A>T) c.251+8508A>T c.*1175A>T (n.*1175A>T) c.*222A>T (n.*222A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425411T= | CA2245346411 | AIPL1 | c.*49A= (n.*49A=) c.*1076A= (n.*1076A=) c.251+8508A= c.*1175A= (n.*1175A=) c.*222A= (n.*222A=) | |
| 17 | g.6425412G>T | CA2635688803 | AIPL1 | c.*48C>A (n.*48C>A) c.*1075C>A (n.*1075C>A) c.251+8507C>A c.*1174C>A (n.*1174C>A) c.*221C>A (n.*221C>A) | gnomAD v4 |
| 17 | g.6425413A>G | CA2635688804 | AIPL1 | c.*47T>C (n.*47T>C) c.*1074T>C (n.*1074T>C) c.251+8506T>C c.*1173T>C (n.*1173T>C) c.*220T>C (n.*220T>C) | gnomAD v4 |
| 17 | g.6425415C>A | CA8328290 | AIPL1 | c.*45G>T (n.*45G>T) c.*1072G>T (n.*1072G>T) c.251+8504G>T c.*1171G>T (n.*1171G>T) c.*218G>T (n.*218G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425415C= | CA2245346413 | AIPL1 | c.*45G= (n.*45G=) c.*1072G= (n.*1072G=) c.251+8504G= c.*1171G= (n.*1171G=) c.*218G= (n.*218G=) | |
| 17 | g.6425415C>G | CA8328289 | AIPL1 | c.*45G>C (n.*45G>C) c.*1072G>C (n.*1072G>C) c.251+8504G>C c.*1171G>C (n.*1171G>C) c.*218G>C (n.*218G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425416A= | CA2245346414 | AIPL1 | c.*44T= (n.*44T=) c.*1071T= (n.*1071T=) c.251+8503T= c.*1170T= (n.*1170T=) c.*217T= (n.*217T=) | |
| 17 | g.6425416_6425417insCTTCAATC | CA981100525 | AIPL1 | c.*43_*44insGATTGAAG (n.*43_*44insGATTGAAG) c.*1070_*1071insGATTGAAG (n.*1070_*1071insGATTGAAG) c.251+8502_251+8503insGATTGAAG c.*1169_*1170insGATTGAAG (n.*1169_*1170insGATTGAAG) c.*216_*217insGATTGAAG (n.*216_*217insGATTGAAG) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425416_6425417insCTTCAATCG | CA2245346417 | AIPL1 | c.*43_*44insCGATTGAAG (n.*43_*44insCGATTGAAG) c.*1070_*1071insCGATTGAAG (n.*1070_*1071insCGATTGAAG) c.251+8502_251+8503insCGATTGAAG c.*1169_*1170insCGATTGAAG (n.*1169_*1170insCGATTGAAG) c.*216_*217insCGATTGAAG (n.*216_*217insCGATTGAAG) | dbSNP |
| 17 | g.6425417G>A | CA2245346419 | AIPL1 | c.*43C>T (n.*43C>T) c.*1070C>T (n.*1070C>T) c.251+8502C>T c.*1169C>T (n.*1169C>T) c.*216C>T (n.*216C>T) | dbSNP |
| 17 | g.6425417G= | CA2245346418 | AIPL1 | c.*43C= (n.*43C=) c.*1070C= (n.*1070C=) c.251+8502C= c.*1169C= (n.*1169C=) c.*216C= (n.*216C=) | |
| 17 | g.6425417G>T | CA2635688805 | AIPL1 | c.*43C>A (n.*43C>A) c.*1070C>A (n.*1070C>A) c.251+8502C>A c.*1169C>A (n.*1169C>A) c.*216C>A (n.*216C>A) | gnomAD v4 |
| 17 | g.6425417_6425418insA | CA981100532 | AIPL1 | c.*42_*43insT (n.*42_*43insT) c.*1069_*1070insT (n.*1069_*1070insT) c.251+8501_251+8502insT c.*1168_*1169insT (n.*1168_*1169insT) c.*215_*216insT (n.*215_*216insT) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425418G>A | CA8328291 | AIPL1 | c.*42C>T (n.*42C>T) c.*1069C>T (n.*1069C>T) c.251+8501C>T c.*1168C>T (n.*1168C>T) c.*215C>T (n.*215C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425418G= | CA2245346421 | AIPL1 | c.*42C= (n.*42C=) c.*1069C= (n.*1069C=) c.251+8501C= c.*1168C= (n.*1168C=) c.*215C= (n.*215C=) | |
| 17 | g.6425418G>T | CA2635688806 | AIPL1 | c.*42C>A (n.*42C>A) c.*1069C>A (n.*1069C>A) c.251+8501C>A c.*1168C>A (n.*1168C>A) c.*215C>A (n.*215C>A) | gnomAD v4 |
| 17 | g.6425419C= | CA2245346423 | AIPL1 | c.*41G= (n.*41G=) c.*1068G= (n.*1068G=) c.251+8500G= c.*1167G= (n.*1167G=) c.*214G= (n.*214G=) | |
| 17 | g.6425419C>T | CA8328292 | AIPL1 | c.*41G>A (n.*41G>A) c.*1068G>A (n.*1068G>A) c.251+8500G>A c.*1167G>A (n.*1167G>A) c.*214G>A (n.*214G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425420C= | CA2245346426 | AIPL1 | c.*40G= (n.*40G=) c.*1067G= (n.*1067G=) c.251+8499G= c.*1166G= (n.*1166G=) c.*213G= (n.*213G=) | |
| 17 | g.6425420C>G | CA624662839 | AIPL1 | c.*40G>C (n.*40G>C) c.*1067G>C (n.*1067G>C) c.251+8499G>C c.*1166G>C (n.*1166G>C) c.*213G>C (n.*213G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425420C>T | CA2635688807 | AIPL1 | c.*40G>A (n.*40G>A) c.*1067G>A (n.*1067G>A) c.251+8499G>A c.*1166G>A (n.*1166G>A) c.*213G>A (n.*213G>A) | gnomAD v4 |
| 17 | g.6425422C= | CA2245346428 | AIPL1 | c.*38G= (n.*38G=) c.*1065G= (n.*1065G=) c.251+8497G= c.*1164G= (n.*1164G=) c.*211G= (n.*211G=) | |
| 17 | g.6425422C>G | CA624662840 | AIPL1 | c.*38G>C (n.*38G>C) c.*1065G>C (n.*1065G>C) c.251+8497G>C c.*1164G>C (n.*1164G>C) c.*211G>C (n.*211G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425423T>C | CA624662841 | AIPL1 | c.*37A>G (n.*37A>G) c.*1064A>G (n.*1064A>G) c.251+8496A>G c.*1163A>G (n.*1163A>G) c.*210A>G (n.*210A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425423T= | CA2245346430 | AIPL1 | c.*37A= (n.*37A=) c.*1064A= (n.*1064A=) c.251+8496A= c.*1163A= (n.*1163A=) c.*210A= (n.*210A=) | |
| 17 | g.6425424T>G | CA624662842 | AIPL1 | c.*36A>C (n.*36A>C) c.*1063A>C (n.*1063A>C) c.251+8495A>C c.*1162A>C (n.*1162A>C) c.*209A>C (n.*209A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425424T= | CA2245346433 | AIPL1 | c.*36A= (n.*36A=) c.*1063A= (n.*1063A=) c.251+8495A= c.*1162A= (n.*1162A=) c.*209A= (n.*209A=) | |
| 17 | g.6425425G>A | CA2635688808 | AIPL1 | c.*35C>T (n.*35C>T) c.*1062C>T (n.*1062C>T) c.251+8494C>T c.*1161C>T (n.*1161C>T) c.*208C>T (n.*208C>T) | gnomAD v4 |
| 17 | g.6425425G= | CA2245346435 | AIPL1 | c.*35C= (n.*35C=) c.*1062C= (n.*1062C=) c.251+8494C= c.*1161C= (n.*1161C=) c.*208C= (n.*208C=) | |
| 17 | g.6425425G>T | CA624662843 | AIPL1 | c.*35C>A (n.*35C>A) c.*1062C>A (n.*1062C>A) c.251+8494C>A c.*1161C>A (n.*1161C>A) c.*208C>A (n.*208C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425426C= | CA2245346438 | AIPL1 | c.*34G= (n.*34G=) c.*1061G= (n.*1061G=) c.251+8493G= c.*1160G= (n.*1160G=) c.*207G= (n.*207G=) | |
| 17 | g.6425426C>T | CA774024393 | AIPL1 | c.*34G>A (n.*34G>A) c.*1061G>A (n.*1061G>A) c.251+8493G>A c.*1160G>A (n.*1160G>A) c.*207G>A (n.*207G>A) | dbSNP gnomAD v4 |
| 17 | g.6425427T>G | CA8328293 | AIPL1 | c.*33A>C (n.*33A>C) c.*1060A>C (n.*1060A>C) c.251+8492A>C c.*1159A>C (n.*1159A>C) c.*206A>C (n.*206A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.6425427T= | CA2245346442 | AIPL1 | c.*33A= (n.*33A=) c.*1060A= (n.*1060A=) c.251+8492A= c.*1159A= (n.*1159A=) c.*206A= (n.*206A=) | |
| 17 | g.6425428C>A | CA2635688809 | AIPL1 | c.*32G>T (n.*32G>T) c.*1059G>T (n.*1059G>T) c.251+8491G>T c.*1158G>T (n.*1158G>T) c.*205G>T (n.*205G>T) | gnomAD v4 |
| 17 | g.6425429C>A | CA2635688810 | AIPL1 | c.*31G>T (n.*31G>T) c.*1058G>T (n.*1058G>T) c.251+8490G>T c.*1157G>T (n.*1157G>T) c.*204G>T (n.*204G>T) | gnomAD v4 |
| 17 | g.6425430C= | CA2245346444 | AIPL1 | c.*30G= (n.*30G=) c.*1057G= (n.*1057G=) c.251+8489G= c.*1156G= (n.*1156G=) c.*203G= (n.*203G=) | |
| 17 | g.6425430C>G | CA624662844 | AIPL1 | c.*30G>C (n.*30G>C) c.*1057G>C (n.*1057G>C) c.251+8489G>C c.*1156G>C (n.*1156G>C) c.*203G>C (n.*203G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425433C>A | CA8328294 | AIPL1 | c.*27G>T (n.*27G>T) c.*1054G>T (n.*1054G>T) c.251+8486G>T c.*1153G>T (n.*1153G>T) c.*200G>T (n.*200G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425433C= | CA2245346445 | AIPL1 | c.*27G= (n.*27G=) c.*1054G= (n.*1054G=) c.251+8486G= c.*1153G= (n.*1153G=) c.*200G= (n.*200G=) | |
| 17 | g.6425433C>T | CA2635688811 | AIPL1 | c.*27G>A (n.*27G>A) c.*1054G>A (n.*1054G>A) c.251+8486G>A c.*1153G>A (n.*1153G>A) c.*200G>A (n.*200G>A) | gnomAD v4 |
| 17 | g.6425434C= | CA2245346449 | AIPL1 | c.*26G= (n.*26G=) c.*1053G= (n.*1053G=) c.251+8485G= c.*1152G= (n.*1152G=) c.*199G= (n.*199G=) | |
| 17 | g.6425434C>T | CA624662845 | AIPL1 | c.*26G>A (n.*26G>A) c.*1053G>A (n.*1053G>A) c.251+8485G>A c.*1152G>A (n.*1152G>A) c.*199G>A (n.*199G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425436G>T | CA2576142265 | AIPL1 | c.*24C>A (n.*24C>A) c.*1051C>A (n.*1051C>A) c.251+8483C>A c.*1150C>A (n.*1150C>A) c.*197C>A (n.*197C>A) | |
| 17 | g.6425437G>A | CA624859131 | AIPL1 | c.*23C>T (n.*23C>T) c.*1050C>T (n.*1050C>T) c.251+8482C>T c.*1149C>T (n.*1149C>T) c.*196C>T (n.*196C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425437G>C | CA8328295 | AIPL1 | c.*23C>G (n.*23C>G) c.*1050C>G (n.*1050C>G) c.251+8482C>G c.*1149C>G (n.*1149C>G) c.*196C>G (n.*196C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425437G= | CA2245346452 | AIPL1 | c.*23C= (n.*23C=) c.*1050C= (n.*1050C=) c.251+8482C= c.*1149C= (n.*1149C=) c.*196C= (n.*196C=) | |
| 17 | g.6425438G>A | CA2635688812 | AIPL1 | c.*22C>T (n.*22C>T) c.*1049C>T (n.*1049C>T) c.251+8481C>T c.*1148C>T (n.*1148C>T) c.*195C>T (n.*195C>T) | gnomAD v4 |
| 17 | g.6425438G>T | CA2635688813 | AIPL1 | c.*22C>A (n.*22C>A) c.*1049C>A (n.*1049C>A) c.251+8481C>A c.*1148C>A (n.*1148C>A) c.*195C>A (n.*195C>A) | gnomAD v4 |
| 17 | g.6425439T>C | CA8328296 | AIPL1 | c.*21A>G (n.*21A>G) c.*1048A>G (n.*1048A>G) c.251+8480A>G c.*1147A>G (n.*1147A>G) c.*194A>G (n.*194A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425439T= | CA2245346457 | AIPL1 | c.*21A= (n.*21A=) c.*1048A= (n.*1048A=) c.251+8480A= c.*1147A= (n.*1147A=) c.*194A= (n.*194A=) | |
| 17 | g.6425440G>C | CA2245346460 | AIPL1 | c.*20C>G (n.*20C>G) c.*1047C>G (n.*1047C>G) c.251+8479C>G c.*1146C>G (n.*1146C>G) c.*193C>G (n.*193C>G) | dbSNP |
| 17 | g.6425440G= | CA2245346459 | AIPL1 | c.*20C= (n.*20C=) c.*1047C= (n.*1047C=) c.251+8479C= c.*1146C= (n.*1146C=) c.*193C= (n.*193C=) | |
| 17 | g.6425441G>A | CA2635688814 | AIPL1 | c.*19C>T (n.*19C>T) c.*1046C>T (n.*1046C>T) c.251+8478C>T c.*1145C>T (n.*1145C>T) c.*192C>T (n.*192C>T) | gnomAD v4 |
| 17 | g.6425442C>A | CA2635688815 | AIPL1 | c.*18G>T (n.*18G>T) c.*1045G>T (n.*1045G>T) c.251+8477G>T c.*1144G>T (n.*1144G>T) c.*191G>T (n.*191G>T) | gnomAD v4 |
| 17 | g.6425442C>T | CA2635688816 | AIPL1 | c.*18G>A (n.*18G>A) c.*1045G>A (n.*1045G>A) c.251+8477G>A c.*1144G>A (n.*1144G>A) c.*191G>A (n.*191G>A) | gnomAD v4 |
| 17 | g.6425443T>C | CA2635688817 | AIPL1 | c.*17A>G (n.*17A>G) c.*1044A>G (n.*1044A>G) c.251+8476A>G c.*1143A>G (n.*1143A>G) c.*190A>G (n.*190A>G) | gnomAD v4 |
| 17 | g.6425444G>A | CA2635688818 | AIPL1 | c.*16C>T (n.*16C>T) c.*1043C>T (n.*1043C>T) c.251+8475C>T c.*1142C>T (n.*1142C>T) c.*189C>T (n.*189C>T) | gnomAD v4 |
| 17 | g.6425445T>A | CA624859132 | AIPL1 | c.*15A>T (n.*15A>T) c.*1042A>T (n.*1042A>T) c.251+8474A>T c.*1141A>T (n.*1141A>T) c.*188A>T (n.*188A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425445T>C | CA8328297 | AIPL1 | c.*15A>G (n.*15A>G) c.*1042A>G (n.*1042A>G) c.251+8474A>G c.*1141A>G (n.*1141A>G) c.*188A>G (n.*188A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425445T= | CA2245346462 | AIPL1 | c.*15A= (n.*15A=) c.*1042A= (n.*1042A=) c.251+8474A= c.*1141A= (n.*1141A=) c.*188A= (n.*188A=) | |
| 17 | g.6425448del | CA2635688819 | AIPL1 | c.*14del (n.*14del) c.*1041del (n.*1041del) c.251+8473del c.*1140del (n.*1140del) c.*187del (n.*187del) | gnomAD v4 |
| 17 | g.6425447G>A | CA2245346466 | AIPL1 | c.*13C>T (n.*13C>T) c.*1040C>T (n.*1040C>T) c.251+8472C>T c.*1139C>T (n.*1139C>T) c.*186C>T (n.*186C>T) | dbSNP |
| 17 | g.6425447G>C | CA8328298 | AIPL1 | c.*13C>G (n.*13C>G) c.*1040C>G (n.*1040C>G) c.251+8472C>G c.*1139C>G (n.*1139C>G) c.*186C>G (n.*186C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425447G= | CA2245346465 | AIPL1 | c.*13C= (n.*13C=) c.*1040C= (n.*1040C=) c.251+8472C= c.*1139C= (n.*1139C=) c.*186C= (n.*186C=) | |
| 17 | g.6425448G>A | CA2635688821 | AIPL1 | c.*12C>T (n.*12C>T) c.*1039C>T (n.*1039C>T) c.251+8471C>T c.*1138C>T (n.*1138C>T) c.*185C>T (n.*185C>T) | gnomAD v4 |
| 17 | g.6425448G>T | CA2635688820 | AIPL1 | c.*12C>A (n.*12C>A) c.*1039C>A (n.*1039C>A) c.251+8471C>A c.*1138C>A (n.*1138C>A) c.*185C>A (n.*185C>A) | gnomAD v4 |
| 17 | g.6425450C>A | CA2635688823 | AIPL1 | c.*10G>T (n.*10G>T) c.*1037G>T (n.*1037G>T) c.251+8469G>T c.*1136G>T (n.*1136G>T) c.*183G>T (n.*183G>T) | gnomAD v4 |
| 17 | g.6425450C>T | CA2635688822 | AIPL1 | c.*10G>A (n.*10G>A) c.*1037G>A (n.*1037G>A) c.251+8469G>A c.*1136G>A (n.*1136G>A) c.*183G>A (n.*183G>A) | gnomAD v4 |
| 17 | g.6425451T>G | CA2741515405 | AIPL1 | c.*9A>C (n.*9A>C) c.*1036A>C (n.*1036A>C) c.251+8468A>C c.*1135A>C (n.*1135A>C) c.*182A>C (n.*182A>C) | |
| 17 | g.6425453A= | CA2245346467 | AIPL1 | c.*7T= (n.*7T=) c.*1034T= (n.*1034T=) c.251+8466T= c.*1133T= (n.*1133T=) c.*180T= (n.*180T=) | |
| 17 | g.6425454G>A | CA8328299 | AIPL1 | c.*6C>T (n.*6C>T) c.*1033C>T (n.*1033C>T) c.251+8465C>T c.*1132C>T (n.*1132C>T) c.*179C>T (n.*179C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425454G= | CA2245346470 | AIPL1 | c.*6C= (n.*6C=) c.*1033C= (n.*1033C=) c.251+8465C= c.*1132C= (n.*1132C=) c.*179C= (n.*179C=) | |
| 17 | g.6425458dup | CA2245346471 | AIPL1 | c.*6dup (n.*6dup) c.*1033dup (n.*1033dup) c.251+8465dup c.*1132dup (n.*1132dup) c.*179dup (n.*179dup) | dbSNP |
| 17 | g.6425458del | CA2635688824 | AIPL1 | c.*6del (n.*6del) c.*1033del (n.*1033del) c.251+8465del c.*1132del (n.*1132del) c.*179del (n.*179del) | gnomAD v4 |
| 17 | g.6425455G>A | CA2245346473 | AIPL1 | c.*5C>T (n.*5C>T) c.*1032C>T (n.*1032C>T) c.251+8464C>T c.*1131C>T (n.*1131C>T) c.*178C>T (n.*178C>T) | dbSNP |
| 17 | g.6425455G= | CA2245346472 | AIPL1 | c.*5C= (n.*5C=) c.*1032C= (n.*1032C=) c.251+8464C= c.*1131C= (n.*1131C=) c.*178C= (n.*178C=) | |
| 17 | g.6425456G>C | CA2245346475 | AIPL1 | c.*4C>G (n.*4C>G) c.*1031C>G (n.*1031C>G) c.251+8463C>G c.*1130C>G (n.*1130C>G) c.*177C>G (n.*177C>G) | dbSNP |
| 17 | g.6425456G= | CA2245346474 | AIPL1 | c.*4C= (n.*4C=) c.*1031C= (n.*1031C=) c.251+8463C= c.*1130C= (n.*1130C=) c.*177C= (n.*177C=) | |
| 17 | g.6425456G>T | CA2635688825 | AIPL1 | c.*4C>A (n.*4C>A) c.*1031C>A (n.*1031C>A) c.251+8463C>A c.*1130C>A (n.*1130C>A) c.*177C>A (n.*177C>A) | gnomAD v4 |
| 17 | g.6425457G>A | CA2635688826 | AIPL1 | c.*3C>T (n.*3C>T) c.*1030C>T (n.*1030C>T) c.251+8462C>T c.*1129C>T (n.*1129C>T) c.*176C>T (n.*176C>T) | gnomAD v4 |
| 17 | g.6425458G>A | CA8328300 | AIPL1 | c.*2C>T (n.*2C>T) c.*1029C>T (n.*1029C>T) c.251+8461C>T c.*1128C>T (n.*1128C>T) c.*175C>T (n.*175C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425458G= | CA2245346476 | AIPL1 | c.*2C= (n.*2C=) c.*1029C= (n.*1029C=) c.251+8461C= c.*1128C= (n.*1128C=) c.*175C= (n.*175C=) | |
| 17 | g.6425458G>T | CA2635688827 | AIPL1 | c.*2C>A (n.*2C>A) c.*1029C>A (n.*1029C>A) c.251+8461C>A c.*1128C>A (n.*1128C>A) c.*175C>A (n.*175C>A) | gnomAD v4 |
| 17 | g.6425459C>A | CA2635688828 | AIPL1 | c.*1G>T (n.*1G>T) c.*1028G>T (n.*1028G>T) c.251+8460G>T c.*1127G>T (n.*1127G>T) c.*174G>T (n.*174G>T) | gnomAD v4 |
| 17 | g.6425459C= | CA2245346477 | AIPL1 | c.*1G= (n.*1G=) c.*1028G= (n.*1028G=) c.251+8460G= c.*1127G= (n.*1127G=) c.*174G= (n.*174G=) | |
| 17 | g.6425459C>T | CA2245346478 | AIPL1 | c.*1G>A (n.*1G>A) c.*1028G>A (n.*1028G>A) c.251+8460G>A c.*1127G>A (n.*1127G>A) c.*174G>A (n.*174G>A) | dbSNP gnomAD v4 |
| 17 | g.6425460T>A | CA397394154 | AIPL1 | c.1155A>T (p.Ter385Cys) c.966A>T (p.Ter322Cys) c.*1027A>T (n.*1027A>T) c.1089A>T (p.Ter363Cys) c.251+8459A>T c.1119A>T (p.Ter373Cys) c.*1126A>T (n.*1126A>T) c.975A>T (p.Ter325Cys) c.1083A>T (p.Ter361Cys) c.*173A>T (n.*173A>T) c.1038A>T (p.Ter346Cys) | |
| 17 | g.6425460T>C | CA397394155 | AIPL1 | c.1155A>G (p.Ter385Trp) c.966A>G (p.Ter322Trp) c.*1027A>G (n.*1027A>G) c.1089A>G (p.Ter363Trp) c.251+8459A>G c.1119A>G (p.Ter373Trp) c.*1126A>G (n.*1126A>G) c.975A>G (p.Ter325Trp) c.1083A>G (p.Ter361Trp) c.*173A>G (n.*173A>G) c.1038A>G (p.Ter346Trp) | |
| 17 | g.6425460T>G | CA397394156 | AIPL1 | c.1155A>C (p.Ter385Cys) c.966A>C (p.Ter322Cys) c.*1027A>C (n.*1027A>C) c.1089A>C (p.Ter363Cys) c.251+8459A>C c.1119A>C (p.Ter373Cys) c.*1126A>C (n.*1126A>C) c.975A>C (p.Ter325Cys) c.1083A>C (p.Ter361Cys) c.*173A>C (n.*173A>C) c.1038A>C (p.Ter346Cys) | |
| 17 | g.6425461C>A | CA397394157 | AIPL1 | c.1154G>T (p.Ter385Leu) c.965G>T (p.Ter322Leu) c.*1026G>T (n.*1026G>T) c.1088G>T (p.Ter363Leu) c.251+8458G>T c.1118G>T (p.Ter373Leu) c.*1125G>T (n.*1125G>T) c.974G>T (p.Ter325Leu) c.1082G>T (p.Ter361Leu) c.*172G>T (n.*172G>T) c.1037G>T (p.Ter346Leu) | |
| 17 | g.6425461C= | CA2245346479 | AIPL1 | c.1154G= (p.Ter385=) c.965G= (p.Ter322=) c.*1026G= (n.*1026G=) c.1088G= (p.Ter363=) c.251+8458G= c.1118G= (p.Ter373=) c.*1125G= (n.*1125G=) c.974G= (p.Ter325=) c.1082G= (p.Ter361=) c.*172G= (n.*172G=) c.1037G= (p.Ter346=) | |
| 17 | g.6425461C>G | CA287323640 | AIPL1 | c.1154G>C (p.Ter385Ser) c.965G>C (p.Ter322Ser) c.*1026G>C (n.*1026G>C) c.1088G>C (p.Ter363Ser) c.251+8458G>C c.1118G>C (p.Ter373Ser) c.*1125G>C (n.*1125G>C) c.974G>C (p.Ter325Ser) c.1082G>C (p.Ter361Ser) c.*172G>C (n.*172G>C) c.1037G>C (p.Ter346Ser) | dbSNP gnomAD v4 |
| 17 | g.6425461C>T | CA497687257 | AIPL1 | c.1154G>A (p.Ter385=) c.965G>A (p.Ter322=) c.*1026G>A (n.*1026G>A) c.1088G>A (p.Ter363=) c.251+8458G>A c.1118G>A (p.Ter373=) c.*1125G>A (n.*1125G>A) c.974G>A (p.Ter325=) c.1082G>A (p.Ter361=) c.*172G>A (n.*172G>A) c.1037G>A (p.Ter346=) | gnomAD v4 |
| 17 | g.6425462A= | CA2245346481 | AIPL1 | c.1153T= (p.Ter385=) c.964T= (p.Ter322=) c.*1025T= (n.*1025T=) c.1087T= (p.Ter363=) c.251+8457T= c.1117T= (p.Ter373=) c.*1124T= (n.*1124T=) c.973T= (p.Ter325=) c.1081T= (p.Ter361=) c.*171T= (n.*171T=) c.1036T= (p.Ter346=) | |
| 17 | g.6425462A>C | CA397394160 | AIPL1 | c.1153T>G (p.Ter385Gly) c.964T>G (p.Ter322Gly) c.*1025T>G (n.*1025T>G) c.1087T>G (p.Ter363Gly) c.251+8457T>G c.1117T>G (p.Ter373Gly) c.*1124T>G (n.*1124T>G) c.973T>G (p.Ter325Gly) c.1081T>G (p.Ter361Gly) c.*171T>G (n.*171T>G) c.1036T>G (p.Ter346Gly) | |
| 17 | g.6425462A>G | CA397394159 | AIPL1 | c.1153T>C (p.Ter385Arg) c.964T>C (p.Ter322Arg) c.*1025T>C (n.*1025T>C) c.1087T>C (p.Ter363Arg) c.251+8457T>C c.1117T>C (p.Ter373Arg) c.*1124T>C (n.*1124T>C) c.973T>C (p.Ter325Arg) c.1081T>C (p.Ter361Arg) c.*171T>C (n.*171T>C) c.1036T>C (p.Ter346Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425462A>T | CA397394158 | AIPL1 | c.1153T>A (p.Ter385Arg) c.964T>A (p.Ter322Arg) c.*1025T>A (n.*1025T>A) c.1087T>A (p.Ter363Arg) c.251+8457T>A c.1117T>A (p.Ter373Arg) c.*1124T>A (n.*1124T>A) c.973T>A (p.Ter325Arg) c.1081T>A (p.Ter361Arg) c.*171T>A (n.*171T>A) c.1036T>A (p.Ter346Arg) | |
| 17 | g.6425463G>A | CA497687258 | AIPL1 | c.1152C>T (p.His384=) c.963C>T (p.His321=) c.*1024C>T (n.*1024C>T) c.1086C>T (p.His362=) c.251+8456C>T c.1116C>T (p.His372=) c.*1123C>T (n.*1123C>T) c.972C>T (p.His324=) c.1080C>T (p.His360=) c.*170C>T (n.*170C>T) c.1035C>T (p.His345=) | |
| 17 | g.6425463G>C | CA397394161 | AIPL1 | c.1152C>G (p.His384Gln) c.963C>G (p.His321Gln) c.*1024C>G (n.*1024C>G) c.1086C>G (p.His362Gln) c.251+8456C>G c.1116C>G (p.His372Gln) c.*1123C>G (n.*1123C>G) c.972C>G (p.His324Gln) c.1080C>G (p.His360Gln) c.*170C>G (n.*170C>G) c.1035C>G (p.His345Gln) | |
| 17 | g.6425463G>T | CA397394162 | AIPL1 | c.1152C>A (p.His384Gln) c.963C>A (p.His321Gln) c.*1024C>A (n.*1024C>A) c.1086C>A (p.His362Gln) c.251+8456C>A c.1116C>A (p.His372Gln) c.*1123C>A (n.*1123C>A) c.972C>A (p.His324Gln) c.1080C>A (p.His360Gln) c.*170C>A (n.*170C>A) c.1035C>A (p.His345Gln) | gnomAD v4 |
| 17 | g.6425464T>A | CA397394163 | AIPL1 | c.1151A>T (p.His384Leu) c.962A>T (p.His321Leu) c.*1023A>T (n.*1023A>T) c.1085A>T (p.His362Leu) c.251+8455A>T c.1115A>T (p.His372Leu) c.*1122A>T (n.*1122A>T) c.971A>T (p.His324Leu) c.1079A>T (p.His360Leu) c.*169A>T (n.*169A>T) c.1034A>T (p.His345Leu) | |
| 17 | g.6425464T>C | CA397394164 | AIPL1 | c.1151A>G (p.His384Arg) c.962A>G (p.His321Arg) c.*1023A>G (n.*1023A>G) c.1085A>G (p.His362Arg) c.251+8455A>G c.1115A>G (p.His372Arg) c.*1122A>G (n.*1122A>G) c.971A>G (p.His324Arg) c.1079A>G (p.His360Arg) c.*169A>G (n.*169A>G) c.1034A>G (p.His345Arg) | |
| 17 | g.6425464T>G | CA397394165 | AIPL1 | c.1151A>C (p.His384Pro) c.962A>C (p.His321Pro) c.*1023A>C (n.*1023A>C) c.1085A>C (p.His362Pro) c.251+8455A>C c.1115A>C (p.His372Pro) c.*1122A>C (n.*1122A>C) c.971A>C (p.His324Pro) c.1079A>C (p.His360Pro) c.*169A>C (n.*169A>C) c.1034A>C (p.His345Pro) | |
| 17 | g.6425465G>A | CA397394166 | AIPL1 | c.1150C>T (p.His384Tyr) c.961C>T (p.His321Tyr) c.*1022C>T (n.*1022C>T) c.1084C>T (p.His362Tyr) c.251+8454C>T c.1114C>T (p.His372Tyr) c.*1121C>T (n.*1121C>T) c.970C>T (p.His324Tyr) c.1078C>T (p.His360Tyr) c.*168C>T (n.*168C>T) c.1033C>T (p.His345Tyr) | |
| 17 | g.6425465G>C | CA397394167 | AIPL1 | c.1150C>G (p.His384Asp) c.961C>G (p.His321Asp) c.*1022C>G (n.*1022C>G) c.1084C>G (p.His362Asp) c.251+8454C>G c.1114C>G (p.His372Asp) c.*1121C>G (n.*1121C>G) c.970C>G (p.His324Asp) c.1078C>G (p.His360Asp) c.*168C>G (n.*168C>G) c.1033C>G (p.His345Asp) | |
| 17 | g.6425465G>T | CA397394168 | AIPL1 | c.1150C>A (p.His384Asn) c.961C>A (p.His321Asn) c.*1022C>A (n.*1022C>A) c.1084C>A (p.His362Asn) c.251+8454C>A c.1114C>A (p.His372Asn) c.*1121C>A (n.*1121C>A) c.970C>A (p.His324Asn) c.1078C>A (p.His360Asn) c.*168C>A (n.*168C>A) c.1033C>A (p.His345Asn) | gnomAD v4 |
| 17 | g.6425466C>A | CA397394169 | AIPL1 | c.1149G>T (p.Gln383His) c.960G>T (p.Gln320His) c.*1021G>T (n.*1021G>T) c.1083G>T (p.Gln361His) c.251+8453G>T c.1113G>T (p.Gln371His) c.*1120G>T (n.*1120G>T) c.969G>T (p.Gln323His) c.1077G>T (p.Gln359His) c.*167G>T (n.*167G>T) c.1032G>T (p.Gln344His) | gnomAD v4 |
| 17 | g.6425466C>G | CA397394170 | AIPL1 | c.1149G>C (p.Gln383His) c.960G>C (p.Gln320His) c.*1021G>C (n.*1021G>C) c.1083G>C (p.Gln361His) c.251+8453G>C c.1113G>C (p.Gln371His) c.*1120G>C (n.*1120G>C) c.969G>C (p.Gln323His) c.1077G>C (p.Gln359His) c.*167G>C (n.*167G>C) c.1032G>C (p.Gln344His) | |
| 17 | g.6425466C>T | CA497687261 | AIPL1 | c.1149G>A (p.Gln383=) c.960G>A (p.Gln320=) c.*1021G>A (n.*1021G>A) c.1083G>A (p.Gln361=) c.251+8453G>A c.1113G>A (p.Gln371=) c.*1120G>A (n.*1120G>A) c.969G>A (p.Gln323=) c.1077G>A (p.Gln359=) c.*167G>A (n.*167G>A) c.1032G>A (p.Gln344=) | |
| 17 | g.6425467T>A | CA397394171 | AIPL1 | c.1148A>T (p.Gln383Leu) c.959A>T (p.Gln320Leu) c.*1020A>T (n.*1020A>T) c.1082A>T (p.Gln361Leu) c.251+8452A>T c.1112A>T (p.Gln371Leu) c.*1119A>T (n.*1119A>T) c.968A>T (p.Gln323Leu) c.1076A>T (p.Gln359Leu) c.*166A>T (n.*166A>T) c.1031A>T (p.Gln344Leu) | |
| 17 | g.6425467T>C | CA397394172 | AIPL1 | c.1148A>G (p.Gln383Arg) c.959A>G (p.Gln320Arg) c.*1020A>G (n.*1020A>G) c.1082A>G (p.Gln361Arg) c.251+8452A>G c.1112A>G (p.Gln371Arg) c.*1119A>G (n.*1119A>G) c.968A>G (p.Gln323Arg) c.1076A>G (p.Gln359Arg) c.*166A>G (n.*166A>G) c.1031A>G (p.Gln344Arg) | |
| 17 | g.6425467T>G | CA397394173 | AIPL1 | c.1148A>C (p.Gln383Pro) c.959A>C (p.Gln320Pro) c.*1020A>C (n.*1020A>C) c.1082A>C (p.Gln361Pro) c.251+8452A>C c.1112A>C (p.Gln371Pro) c.*1119A>C (n.*1119A>C) c.968A>C (p.Gln323Pro) c.1076A>C (p.Gln359Pro) c.*166A>C (n.*166A>C) c.1031A>C (p.Gln344Pro) | |
| 17 | g.6425468G>A | CA397394175 | AIPL1 | c.1147C>T (p.Gln383Ter) c.958C>T (p.Gln320Ter) c.*1019C>T (n.*1019C>T) c.1081C>T (p.Gln361Ter) c.251+8451C>T c.1111C>T (p.Gln371Ter) c.*1118C>T (n.*1118C>T) c.967C>T (p.Gln323Ter) c.1075C>T (p.Gln359Ter) c.*165C>T (n.*165C>T) c.1030C>T (p.Gln344Ter) | ClinVar gnomAD v4 |
| 17 | g.6425468G>C | CA397394176 | AIPL1 | c.1147C>G (p.Gln383Glu) c.958C>G (p.Gln320Glu) c.*1019C>G (n.*1019C>G) c.1081C>G (p.Gln361Glu) c.251+8451C>G c.1111C>G (p.Gln371Glu) c.*1118C>G (n.*1118C>G) c.967C>G (p.Gln323Glu) c.1075C>G (p.Gln359Glu) c.*165C>G (n.*165C>G) c.1030C>G (p.Gln344Glu) | |
| 17 | g.6425468G>T | CA397394174 | AIPL1 | c.1147C>A (p.Gln383Lys) c.958C>A (p.Gln320Lys) c.*1019C>A (n.*1019C>A) c.1081C>A (p.Gln361Lys) c.251+8451C>A c.1111C>A (p.Gln371Lys) c.*1118C>A (n.*1118C>A) c.967C>A (p.Gln323Lys) c.1075C>A (p.Gln359Lys) c.*165C>A (n.*165C>A) c.1030C>A (p.Gln344Lys) | |
| 17 | g.6425469C>A | CA497687262 | AIPL1 | c.1146G>T (p.Leu382=) c.957G>T (p.Leu319=) c.*1018G>T (n.*1018G>T) c.1080G>T (p.Leu360=) c.251+8450G>T c.1110G>T (p.Leu370=) c.*1117G>T (n.*1117G>T) c.966G>T (p.Leu322=) c.1074G>T (p.Leu358=) c.*164G>T (n.*164G>T) c.1029G>T (p.Leu343=) | gnomAD v4 |
| 17 | g.6425469C>G | CA497687264 | AIPL1 | c.1146G>C (p.Leu382=) c.957G>C (p.Leu319=) c.*1018G>C (n.*1018G>C) c.1080G>C (p.Leu360=) c.251+8450G>C c.1110G>C (p.Leu370=) c.*1117G>C (n.*1117G>C) c.966G>C (p.Leu322=) c.1074G>C (p.Leu358=) c.*164G>C (n.*164G>C) c.1029G>C (p.Leu343=) | |
| 17 | g.6425469C>T | CA497687263 | AIPL1 | c.1146G>A (p.Leu382=) c.957G>A (p.Leu319=) c.*1018G>A (n.*1018G>A) c.1080G>A (p.Leu360=) c.251+8450G>A c.1110G>A (p.Leu370=) c.*1117G>A (n.*1117G>A) c.966G>A (p.Leu322=) c.1074G>A (p.Leu358=) c.*164G>A (n.*164G>A) c.1029G>A (p.Leu343=) | gnomAD v4 COSMIC |
| 17 | g.6425470del | CA2635688829 | AIPL1 | c.1145del (p.Leu382ArgfsTer?) c.956del (p.Leu319ArgfsTer?) c.*1017del (n.*1017del) c.1079del (p.Leu360ArgfsTer?) c.251+8449del c.1109del (p.Leu370ArgfsTer?) c.*1116del (n.*1116del) c.965del (p.Leu322ArgfsTer?) c.1073del (p.Leu358ArgfsTer?) c.*163del (n.*163del) c.1028del (p.Leu343ArgfsTer?) | gnomAD v4 |
| 17 | g.6425470A= | CA2245346485 | AIPL1 | c.1145T= (p.Leu382=) c.956T= (p.Leu319=) c.*1017T= (n.*1017T=) c.1079T= (p.Leu360=) c.251+8449T= c.1109T= (p.Leu370=) c.*1116T= (n.*1116T=) c.965T= (p.Leu322=) c.1073T= (p.Leu358=) c.*163T= (n.*163T=) c.1028T= (p.Leu343=) | |
| 17 | g.6425470A>C | CA8328301 | AIPL1 | c.1145T>G (p.Leu382Arg) c.956T>G (p.Leu319Arg) c.*1017T>G (n.*1017T>G) c.1079T>G (p.Leu360Arg) c.251+8449T>G c.1109T>G (p.Leu370Arg) c.*1116T>G (n.*1116T>G) c.965T>G (p.Leu322Arg) c.1073T>G (p.Leu358Arg) c.*163T>G (n.*163T>G) c.1028T>G (p.Leu343Arg) | dbSNP ExAC gnomAD v2 |
| 17 | g.6425470A>G | CA397394177 | AIPL1 | c.1145T>C (p.Leu382Pro) c.956T>C (p.Leu319Pro) c.*1017T>C (n.*1017T>C) c.1079T>C (p.Leu360Pro) c.251+8449T>C c.1109T>C (p.Leu370Pro) c.*1116T>C (n.*1116T>C) c.965T>C (p.Leu322Pro) c.1073T>C (p.Leu358Pro) c.*163T>C (n.*163T>C) c.1028T>C (p.Leu343Pro) | dbSNP gnomAD v4 |
| 17 | g.6425470A>T | CA397394178 | AIPL1 | c.1145T>A (p.Leu382Gln) c.956T>A (p.Leu319Gln) c.*1017T>A (n.*1017T>A) c.1079T>A (p.Leu360Gln) c.251+8449T>A c.1109T>A (p.Leu370Gln) c.*1116T>A (n.*1116T>A) c.965T>A (p.Leu322Gln) c.1073T>A (p.Leu358Gln) c.*163T>A (n.*163T>A) c.1028T>A (p.Leu343Gln) | ClinVar dbSNP |
| 17 | g.6425471G>A | CA497687265 | AIPL1 | c.1144C>T (p.Leu382=) c.955C>T (p.Leu319=) c.*1016C>T (n.*1016C>T) c.1078C>T (p.Leu360=) c.251+8448C>T c.1108C>T (p.Leu370=) c.*1115C>T (n.*1115C>T) c.964C>T (p.Leu322=) c.1072C>T (p.Leu358=) c.*162C>T (n.*162C>T) c.1027C>T (p.Leu343=) | |
| 17 | g.6425471G>C | CA397394179 | AIPL1 | c.1144C>G (p.Leu382Val) c.955C>G (p.Leu319Val) c.*1016C>G (n.*1016C>G) c.1078C>G (p.Leu360Val) c.251+8448C>G c.1108C>G (p.Leu370Val) c.*1115C>G (n.*1115C>G) c.964C>G (p.Leu322Val) c.1072C>G (p.Leu358Val) c.*162C>G (n.*162C>G) c.1027C>G (p.Leu343Val) | |
| 17 | g.6425471G>T | CA397394180 | AIPL1 | c.1144C>A (p.Leu382Met) c.955C>A (p.Leu319Met) c.*1016C>A (n.*1016C>A) c.1078C>A (p.Leu360Met) c.251+8448C>A c.1108C>A (p.Leu370Met) c.*1115C>A (n.*1115C>A) c.964C>A (p.Leu322Met) c.1072C>A (p.Leu358Met) c.*162C>A (n.*162C>A) c.1027C>A (p.Leu343Met) | gnomAD v4 |
| 17 | g.6425472C>A | CA8328302 | AIPL1 | c.1143G>T (p.Ser381=) c.954G>T (p.Ser318=) c.*1015G>T (n.*1015G>T) c.1077G>T (p.Ser359=) c.251+8447G>T c.1107G>T (p.Ser369=) c.*1114G>T (n.*1114G>T) c.963G>T (p.Ser321=) c.1071G>T (p.Ser357=) c.*161G>T (n.*161G>T) c.1026G>T (p.Ser342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425472C= | CA2245346489 | AIPL1 | c.1143G= (p.Ser381=) c.954G= (p.Ser318=) c.*1015G= (n.*1015G=) c.1077G= (p.Ser359=) c.251+8447G= c.1107G= (p.Ser369=) c.*1114G= (n.*1114G=) c.963G= (p.Ser321=) c.1071G= (p.Ser357=) c.*161G= (n.*161G=) c.1026G= (p.Ser342=) | |
| 17 | g.6425472C>G | CA497687266 | AIPL1 | c.1143G>C (p.Ser381=) c.954G>C (p.Ser318=) c.*1015G>C (n.*1015G>C) c.1077G>C (p.Ser359=) c.251+8447G>C c.1107G>C (p.Ser369=) c.*1114G>C (n.*1114G>C) c.963G>C (p.Ser321=) c.1071G>C (p.Ser357=) c.*161G>C (n.*161G>C) c.1026G>C (p.Ser342=) | ClinVar |
| 17 | g.6425472C>T | CA497687267 | AIPL1 | c.1143G>A (p.Ser381=) c.954G>A (p.Ser318=) c.*1015G>A (n.*1015G>A) c.1077G>A (p.Ser359=) c.251+8447G>A c.1107G>A (p.Ser369=) c.*1114G>A (n.*1114G>A) c.963G>A (p.Ser321=) c.1071G>A (p.Ser357=) c.*161G>A (n.*161G>A) c.1026G>A (p.Ser342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425473G>A | CA397394181 | AIPL1 | c.1142C>T (p.Ser381Leu) c.953C>T (p.Ser318Leu) c.*1014C>T (n.*1014C>T) c.1076C>T (p.Ser359Leu) c.251+8446C>T c.1106C>T (p.Ser369Leu) c.*1113C>T (n.*1113C>T) c.962C>T (p.Ser321Leu) c.1070C>T (p.Ser357Leu) c.*160C>T (n.*160C>T) c.1025C>T (p.Ser342Leu) | gnomAD v4 |
| 17 | g.6425473G>C | CA8328303 | AIPL1 | c.1142C>G (p.Ser381Trp) c.953C>G (p.Ser318Trp) c.*1014C>G (n.*1014C>G) c.1076C>G (p.Ser359Trp) c.251+8446C>G c.1106C>G (p.Ser369Trp) c.*1113C>G (n.*1113C>G) c.962C>G (p.Ser321Trp) c.1070C>G (p.Ser357Trp) c.*160C>G (n.*160C>G) c.1025C>G (p.Ser342Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425473G= | CA2245346492 | AIPL1 | c.1142C= (p.Ser381=) c.953C= (p.Ser318=) c.*1014C= (n.*1014C=) c.1076C= (p.Ser359=) c.251+8446C= c.1106C= (p.Ser369=) c.*1113C= (n.*1113C=) c.962C= (p.Ser321=) c.1070C= (p.Ser357=) c.*160C= (n.*160C=) c.1025C= (p.Ser342=) | |
| 17 | g.6425473G>T | CA397394182 | AIPL1 | c.1142C>A (p.Ser381Ter) c.953C>A (p.Ser318Ter) c.*1014C>A (n.*1014C>A) c.1076C>A (p.Ser359Ter) c.251+8446C>A c.1106C>A (p.Ser369Ter) c.*1113C>A (n.*1113C>A) c.962C>A (p.Ser321Ter) c.1070C>A (p.Ser357Ter) c.*160C>A (n.*160C>A) c.1025C>A (p.Ser342Ter) | gnomAD v4 |
| 17 | g.6425474A>C | CA397394183 | AIPL1 | c.1141T>G (p.Ser381Ala) c.952T>G (p.Ser318Ala) c.*1013T>G (n.*1013T>G) c.1075T>G (p.Ser359Ala) c.251+8445T>G c.1105T>G (p.Ser369Ala) c.*1112T>G (n.*1112T>G) c.961T>G (p.Ser321Ala) c.1069T>G (p.Ser357Ala) c.*159T>G (n.*159T>G) c.1024T>G (p.Ser342Ala) | |
| 17 | g.6425474A>G | CA397394184 | AIPL1 | c.1141T>C (p.Ser381Pro) c.952T>C (p.Ser318Pro) c.*1013T>C (n.*1013T>C) c.1075T>C (p.Ser359Pro) c.251+8445T>C c.1105T>C (p.Ser369Pro) c.*1112T>C (n.*1112T>C) c.961T>C (p.Ser321Pro) c.1069T>C (p.Ser357Pro) c.*159T>C (n.*159T>C) c.1024T>C (p.Ser342Pro) | COSMIC |
| 17 | g.6425474A>T | CA397394185 | AIPL1 | c.1141T>A (p.Ser381Thr) c.952T>A (p.Ser318Thr) c.*1013T>A (n.*1013T>A) c.1075T>A (p.Ser359Thr) c.251+8445T>A c.1105T>A (p.Ser369Thr) c.*1112T>A (n.*1112T>A) c.961T>A (p.Ser321Thr) c.1069T>A (p.Ser357Thr) c.*159T>A (n.*159T>A) c.1024T>A (p.Ser342Thr) | |
| 17 | g.6425475G>A | CA497687268 | AIPL1 | c.1140C>T (p.His380=) c.951C>T (p.His317=) c.*1012C>T (n.*1012C>T) c.1074C>T (p.His358=) c.251+8444C>T c.1104C>T (p.His368=) c.*1111C>T (n.*1111C>T) c.960C>T (p.His320=) c.1068C>T (p.His356=) c.*158C>T (n.*158C>T) c.1023C>T (p.His341=) | |
| 17 | g.6425475G>C | CA397394187 | AIPL1 | c.1140C>G (p.His380Gln) c.951C>G (p.His317Gln) c.*1012C>G (n.*1012C>G) c.1074C>G (p.His358Gln) c.251+8444C>G c.1104C>G (p.His368Gln) c.*1111C>G (n.*1111C>G) c.960C>G (p.His320Gln) c.1068C>G (p.His356Gln) c.*158C>G (n.*158C>G) c.1023C>G (p.His341Gln) | gnomAD v4 |
| 17 | g.6425475G>T | CA397394186 | AIPL1 | c.1140C>A (p.His380Gln) c.951C>A (p.His317Gln) c.*1012C>A (n.*1012C>A) c.1074C>A (p.His358Gln) c.251+8444C>A c.1104C>A (p.His368Gln) c.*1111C>A (n.*1111C>A) c.960C>A (p.His320Gln) c.1068C>A (p.His356Gln) c.*158C>A (n.*158C>A) c.1023C>A (p.His341Gln) | gnomAD v4 |
| 17 | g.6425476T>A | CA397394188 | AIPL1 | c.1139A>T (p.His380Leu) c.950A>T (p.His317Leu) c.*1011A>T (n.*1011A>T) c.1073A>T (p.His358Leu) c.251+8443A>T c.1103A>T (p.His368Leu) c.*1110A>T (n.*1110A>T) c.959A>T (p.His320Leu) c.1067A>T (p.His356Leu) c.*157A>T (n.*157A>T) c.1022A>T (p.His341Leu) | gnomAD v4 |
| 17 | g.6425476T>C | CA397394189 | AIPL1 | c.1139A>G (p.His380Arg) c.950A>G (p.His317Arg) c.*1011A>G (n.*1011A>G) c.1073A>G (p.His358Arg) c.251+8443A>G c.1103A>G (p.His368Arg) c.*1110A>G (n.*1110A>G) c.959A>G (p.His320Arg) c.1067A>G (p.His356Arg) c.*157A>G (n.*157A>G) c.1022A>G (p.His341Arg) | gnomAD v4 |
| 17 | g.6425476T>G | CA397394190 | AIPL1 | c.1139A>C (p.His380Pro) c.950A>C (p.His317Pro) c.*1011A>C (n.*1011A>C) c.1073A>C (p.His358Pro) c.251+8443A>C c.1103A>C (p.His368Pro) c.*1110A>C (n.*1110A>C) c.959A>C (p.His320Pro) c.1067A>C (p.His356Pro) c.*157A>C (n.*157A>C) c.1022A>C (p.His341Pro) | |
| 17 | g.6425477G>A | CA397394191 | AIPL1 | c.1138C>T (p.His380Tyr) c.949C>T (p.His317Tyr) c.*1010C>T (n.*1010C>T) c.1072C>T (p.His358Tyr) c.251+8442C>T c.1102C>T (p.His368Tyr) c.*1109C>T (n.*1109C>T) c.958C>T (p.His320Tyr) c.1066C>T (p.His356Tyr) c.*156C>T (n.*156C>T) c.1021C>T (p.His341Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425477G>C | CA397394192 | AIPL1 | c.1138C>G (p.His380Asp) c.949C>G (p.His317Asp) c.*1010C>G (n.*1010C>G) c.1072C>G (p.His358Asp) c.251+8442C>G c.1102C>G (p.His368Asp) c.*1109C>G (n.*1109C>G) c.958C>G (p.His320Asp) c.1066C>G (p.His356Asp) c.*156C>G (n.*156C>G) c.1021C>G (p.His341Asp) | |
| 17 | g.6425477G= | CA2245346494 | AIPL1 | c.1138C= (p.His380=) c.949C= (p.His317=) c.*1010C= (n.*1010C=) c.1072C= (p.His358=) c.251+8442C= c.1102C= (p.His368=) c.*1109C= (n.*1109C=) c.958C= (p.His320=) c.1066C= (p.His356=) c.*156C= (n.*156C=) c.1021C= (p.His341=) | |
| 17 | g.6425477G>T | CA397394193 | AIPL1 | c.1138C>A (p.His380Asn) c.949C>A (p.His317Asn) c.*1010C>A (n.*1010C>A) c.1072C>A (p.His358Asn) c.251+8442C>A c.1102C>A (p.His368Asn) c.*1109C>A (n.*1109C>A) c.958C>A (p.His320Asn) c.1066C>A (p.His356Asn) c.*156C>A (n.*156C>A) c.1021C>A (p.His341Asn) | |
| 17 | g.6425478C>A | CA497687269 | AIPL1 | c.1137G>T (p.Gly379=) c.948G>T (p.Gly316=) c.*1009G>T (n.*1009G>T) c.1071G>T (p.Gly357=) c.251+8441G>T c.1101G>T (p.Gly367=) c.*1108G>T (n.*1108G>T) c.957G>T (p.Gly319=) c.1065G>T (p.Gly355=) c.*155G>T (n.*155G>T) c.1020G>T (p.Gly340=) | |
| 17 | g.6425478C>G | CA497687270 | AIPL1 | c.1137G>C (p.Gly379=) c.948G>C (p.Gly316=) c.*1009G>C (n.*1009G>C) c.1071G>C (p.Gly357=) c.251+8441G>C c.1101G>C (p.Gly367=) c.*1108G>C (n.*1108G>C) c.957G>C (p.Gly319=) c.1065G>C (p.Gly355=) c.*155G>C (n.*155G>C) c.1020G>C (p.Gly340=) | |
| 17 | g.6425478C>T | CA497687271 | AIPL1 | c.1137G>A (p.Gly379=) c.948G>A (p.Gly316=) c.*1009G>A (n.*1009G>A) c.1071G>A (p.Gly357=) c.251+8441G>A c.1101G>A (p.Gly367=) c.*1108G>A (n.*1108G>A) c.957G>A (p.Gly319=) c.1065G>A (p.Gly355=) c.*155G>A (n.*155G>A) c.1020G>A (p.Gly340=) | gnomAD v4 |
| 17 | g.6425480del | CA2635688830 | AIPL1 | c.1137del (p.His380ThrfsTer?) c.948del (p.His317ThrfsTer?) c.*1009del (n.*1009del) c.1071del (p.His358ThrfsTer?) c.251+8441del c.1101del (p.His368ThrfsTer?) c.*1108del (n.*1108del) c.957del (p.His320ThrfsTer?) c.1065del (p.His356ThrfsTer?) c.*155del (n.*155del) c.1020del (p.His341ThrfsTer?) | gnomAD v4 |
| 17 | g.6425479C>A | CA397394194 | AIPL1 | c.1136G>T (p.Gly379Val) c.947G>T (p.Gly316Val) c.*1008G>T (n.*1008G>T) c.1070G>T (p.Gly357Val) c.251+8440G>T c.1100G>T (p.Gly367Val) c.*1107G>T (n.*1107G>T) c.956G>T (p.Gly319Val) c.1064G>T (p.Gly355Val) c.*154G>T (n.*154G>T) c.1019G>T (p.Gly340Val) | |
| 17 | g.6425479C= | CA2245346496 | AIPL1 | c.1136G= (p.Gly379=) c.947G= (p.Gly316=) c.*1008G= (n.*1008G=) c.1070G= (p.Gly357=) c.251+8440G= c.1100G= (p.Gly367=) c.*1107G= (n.*1107G=) c.956G= (p.Gly319=) c.1064G= (p.Gly355=) c.*154G= (n.*154G=) c.1019G= (p.Gly340=) | |
| 17 | g.6425479C>G | CA397394195 | AIPL1 | c.1136G>C (p.Gly379Ala) c.947G>C (p.Gly316Ala) c.*1008G>C (n.*1008G>C) c.1070G>C (p.Gly357Ala) c.251+8440G>C c.1100G>C (p.Gly367Ala) c.*1107G>C (n.*1107G>C) c.956G>C (p.Gly319Ala) c.1064G>C (p.Gly355Ala) c.*154G>C (n.*154G>C) c.1019G>C (p.Gly340Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.6425479C>T | CA397394196 | AIPL1 | c.1136G>A (p.Gly379Glu) c.947G>A (p.Gly316Glu) c.*1008G>A (n.*1008G>A) c.1070G>A (p.Gly357Glu) c.251+8440G>A c.1100G>A (p.Gly367Glu) c.*1107G>A (n.*1107G>A) c.956G>A (p.Gly319Glu) c.1064G>A (p.Gly355Glu) c.*154G>A (n.*154G>A) c.1019G>A (p.Gly340Glu) | |
| 17 | g.6425480C>A | CA397394197 | AIPL1 | c.1135G>T (p.Gly379Trp) c.946G>T (p.Gly316Trp) c.*1007G>T (n.*1007G>T) c.1069G>T (p.Gly357Trp) c.251+8439G>T c.1099G>T (p.Gly367Trp) c.*1106G>T (n.*1106G>T) c.955G>T (p.Gly319Trp) c.1063G>T (p.Gly355Trp) c.*153G>T (n.*153G>T) c.1018G>T (p.Gly340Trp) | |
| 17 | g.6425480C= | CA2245346498 | AIPL1 | c.1135G= (p.Gly379=) c.946G= (p.Gly316=) c.*1007G= (n.*1007G=) c.1069G= (p.Gly357=) c.251+8439G= c.1099G= (p.Gly367=) c.*1106G= (n.*1106G=) c.955G= (p.Gly319=) c.1063G= (p.Gly355=) c.*153G= (n.*153G=) c.1018G= (p.Gly340=) | |
| 17 | g.6425480C>G | CA287323645 | AIPL1 | c.1135G>C (p.Gly379Arg) c.946G>C (p.Gly316Arg) c.*1007G>C (n.*1007G>C) c.1069G>C (p.Gly357Arg) c.251+8439G>C c.1099G>C (p.Gly367Arg) c.*1106G>C (n.*1106G>C) c.955G>C (p.Gly319Arg) c.1063G>C (p.Gly355Arg) c.*153G>C (n.*153G>C) c.1018G>C (p.Gly340Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425480C>T | CA397394198 | AIPL1 | c.1135G>A (p.Gly379Arg) c.946G>A (p.Gly316Arg) c.*1007G>A (n.*1007G>A) c.1069G>A (p.Gly357Arg) c.251+8439G>A c.1099G>A (p.Gly367Arg) c.*1106G>A (n.*1106G>A) c.955G>A (p.Gly319Arg) c.1063G>A (p.Gly355Arg) c.*153G>A (n.*153G>A) c.1018G>A (p.Gly340Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425481T>A | CA497687272 | AIPL1 | c.1134A>T (p.Pro378=) c.945A>T (p.Pro315=) c.*1006A>T (n.*1006A>T) c.1068A>T (p.Pro356=) c.251+8438A>T c.1098A>T (p.Pro366=) c.*1105A>T (n.*1105A>T) c.954A>T (p.Pro318=) c.1062A>T (p.Pro354=) c.*152A>T (n.*152A>T) c.1017A>T (p.Pro339=) | |
| 17 | g.6425481T>C | CA497687273 | AIPL1 | c.1134A>G (p.Pro378=) c.945A>G (p.Pro315=) c.*1006A>G (n.*1006A>G) c.1068A>G (p.Pro356=) c.251+8438A>G c.1098A>G (p.Pro366=) c.*1105A>G (n.*1105A>G) c.954A>G (p.Pro318=) c.1062A>G (p.Pro354=) c.*152A>G (n.*152A>G) c.1017A>G (p.Pro339=) | gnomAD v4 |
| 17 | g.6425481T>G | CA497687274 | AIPL1 | c.1134A>C (p.Pro378=) c.945A>C (p.Pro315=) c.*1006A>C (n.*1006A>C) c.1068A>C (p.Pro356=) c.251+8438A>C c.1098A>C (p.Pro366=) c.*1105A>C (n.*1105A>C) c.954A>C (p.Pro318=) c.1062A>C (p.Pro354=) c.*152A>C (n.*152A>C) c.1017A>C (p.Pro339=) | |
| 17 | g.6425482G>A | CA397394200 | AIPL1 | c.1133C>T (p.Pro378Leu) c.944C>T (p.Pro315Leu) c.*1005C>T (n.*1005C>T) c.1067C>T (p.Pro356Leu) c.251+8437C>T c.1097C>T (p.Pro366Leu) c.*1104C>T (n.*1104C>T) c.953C>T (p.Pro318Leu) c.1061C>T (p.Pro354Leu) c.*151C>T (n.*151C>T) c.1016C>T (p.Pro339Leu) | gnomAD v4 |
| 17 | g.6425482G>C | CA397394201 | AIPL1 | c.1133C>G (p.Pro378Arg) c.944C>G (p.Pro315Arg) c.*1005C>G (n.*1005C>G) c.1067C>G (p.Pro356Arg) c.251+8437C>G c.1097C>G (p.Pro366Arg) c.*1104C>G (n.*1104C>G) c.953C>G (p.Pro318Arg) c.1061C>G (p.Pro354Arg) c.*151C>G (n.*151C>G) c.1016C>G (p.Pro339Arg) | |
| 17 | g.6425482G>T | CA397394199 | AIPL1 | c.1133C>A (p.Pro378Gln) c.944C>A (p.Pro315Gln) c.*1005C>A (n.*1005C>A) c.1067C>A (p.Pro356Gln) c.251+8437C>A c.1097C>A (p.Pro366Gln) c.*1104C>A (n.*1104C>A) c.953C>A (p.Pro318Gln) c.1061C>A (p.Pro354Gln) c.*151C>A (n.*151C>A) c.1016C>A (p.Pro339Gln) | gnomAD v4 |
| 17 | g.6425485del | CA2635688831 | AIPL1 | c.1133del (p.Pro378GlnfsTer?) c.944del (p.Pro315GlnfsTer?) c.*1005del (n.*1005del) c.1067del (p.Pro356GlnfsTer?) c.251+8437del c.1097del (p.Pro366GlnfsTer?) c.*1104del (n.*1104del) c.953del (p.Pro318GlnfsTer?) c.1061del (p.Pro354GlnfsTer?) c.*151del (n.*151del) c.1016del (p.Pro339GlnfsTer?) | gnomAD v4 |
| 17 | g.6425483G>A | CA397394204 | AIPL1 | c.1132C>T (p.Pro378Ser) c.943C>T (p.Pro315Ser) c.*1004C>T (n.*1004C>T) c.1066C>T (p.Pro356Ser) c.251+8436C>T c.1096C>T (p.Pro366Ser) c.*1103C>T (n.*1103C>T) c.952C>T (p.Pro318Ser) c.1060C>T (p.Pro354Ser) c.*150C>T (n.*150C>T) c.1015C>T (p.Pro339Ser) | ClinVar |
| 17 | g.6425483G>C | CA397394202 | AIPL1 | c.1132C>G (p.Pro378Ala) c.943C>G (p.Pro315Ala) c.*1004C>G (n.*1004C>G) c.1066C>G (p.Pro356Ala) c.251+8436C>G c.1096C>G (p.Pro366Ala) c.*1103C>G (n.*1103C>G) c.952C>G (p.Pro318Ala) c.1060C>G (p.Pro354Ala) c.*150C>G (n.*150C>G) c.1015C>G (p.Pro339Ala) | |
| 17 | g.6425483G>T | CA397394203 | AIPL1 | c.1132C>A (p.Pro378Thr) c.943C>A (p.Pro315Thr) c.*1004C>A (n.*1004C>A) c.1066C>A (p.Pro356Thr) c.251+8436C>A c.1096C>A (p.Pro366Thr) c.*1103C>A (n.*1103C>A) c.952C>A (p.Pro318Thr) c.1060C>A (p.Pro354Thr) c.*150C>A (n.*150C>A) c.1015C>A (p.Pro339Thr) | gnomAD v4 |
| 17 | g.6425484G>A | CA8328304 | AIPL1 | c.1131C>T (p.Ser377=) c.942C>T (p.Ser314=) c.*1003C>T (n.*1003C>T) c.1065C>T (p.Ser355=) c.251+8435C>T c.1095C>T (p.Ser365=) c.*1102C>T (n.*1102C>T) c.951C>T (p.Ser317=) c.1059C>T (p.Ser353=) c.*149C>T (n.*149C>T) c.1014C>T (p.Ser338=) | dbSNP ExAC gnomAD v2 |
| 17 | g.6425484G>C | CA497687277 | AIPL1 | c.1131C>G (p.Ser377=) c.942C>G (p.Ser314=) c.*1003C>G (n.*1003C>G) c.1065C>G (p.Ser355=) c.251+8435C>G c.1095C>G (p.Ser365=) c.*1102C>G (n.*1102C>G) c.951C>G (p.Ser317=) c.1059C>G (p.Ser353=) c.*149C>G (n.*149C>G) c.1014C>G (p.Ser338=) | |
| 17 | g.6425484G= | CA2245346503 | AIPL1 | c.1131C= (p.Ser377=) c.942C= (p.Ser314=) c.*1003C= (n.*1003C=) c.1065C= (p.Ser355=) c.251+8435C= c.1095C= (p.Ser365=) c.*1102C= (n.*1102C=) c.951C= (p.Ser317=) c.1059C= (p.Ser353=) c.*149C= (n.*149C=) c.1014C= (p.Ser338=) | |
| 17 | g.6425484G>T | CA497687276 | AIPL1 | c.1131C>A (p.Ser377=) c.942C>A (p.Ser314=) c.*1003C>A (n.*1003C>A) c.1065C>A (p.Ser355=) c.251+8435C>A c.1095C>A (p.Ser365=) c.*1102C>A (n.*1102C>A) c.951C>A (p.Ser317=) c.1059C>A (p.Ser353=) c.*149C>A (n.*149C>A) c.1014C>A (p.Ser338=) | gnomAD v4 |
| 17 | g.6425485G>A | CA397394205 | AIPL1 | c.1130C>T (p.Ser377Phe) c.941C>T (p.Ser314Phe) c.*1002C>T (n.*1002C>T) c.1064C>T (p.Ser355Phe) c.251+8434C>T c.1094C>T (p.Ser365Phe) c.*1101C>T (n.*1101C>T) c.950C>T (p.Ser317Phe) c.1058C>T (p.Ser353Phe) c.*148C>T (n.*148C>T) c.1013C>T (p.Ser338Phe) | |
| 17 | g.6425485G>C | CA397394206 | AIPL1 | c.1130C>G (p.Ser377Cys) c.941C>G (p.Ser314Cys) c.*1002C>G (n.*1002C>G) c.1064C>G (p.Ser355Cys) c.251+8434C>G c.1094C>G (p.Ser365Cys) c.*1101C>G (n.*1101C>G) c.950C>G (p.Ser317Cys) c.1058C>G (p.Ser353Cys) c.*148C>G (n.*148C>G) c.1013C>G (p.Ser338Cys) | |
| 17 | g.6425485G= | CA2245346506 | AIPL1 | c.1130C= (p.Ser377=) c.941C= (p.Ser314=) c.*1002C= (n.*1002C=) c.1064C= (p.Ser355=) c.251+8434C= c.1094C= (p.Ser365=) c.*1101C= (n.*1101C=) c.950C= (p.Ser317=) c.1058C= (p.Ser353=) c.*148C= (n.*148C=) c.1013C= (p.Ser338=) | |
| 17 | g.6425485G>T | CA397394207 | AIPL1 | c.1130C>A (p.Ser377Tyr) c.941C>A (p.Ser314Tyr) c.*1002C>A (n.*1002C>A) c.1064C>A (p.Ser355Tyr) c.251+8434C>A c.1094C>A (p.Ser365Tyr) c.*1101C>A (n.*1101C>A) c.950C>A (p.Ser317Tyr) c.1058C>A (p.Ser353Tyr) c.*148C>A (n.*148C>A) c.1013C>A (p.Ser338Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425486A= | CA2245346508 | AIPL1 | c.1129T= (p.Ser377=) c.940T= (p.Ser314=) c.*1001T= (n.*1001T=) c.1063T= (p.Ser355=) c.251+8433T= c.1093T= (p.Ser365=) c.*1100T= (n.*1100T=) c.949T= (p.Ser317=) c.1057T= (p.Ser353=) c.*147T= (n.*147T=) c.1012T= (p.Ser338=) | |
| 17 | g.6425486A>C | CA397394208 | AIPL1 | c.1129T>G (p.Ser377Ala) c.940T>G (p.Ser314Ala) c.*1001T>G (n.*1001T>G) c.1063T>G (p.Ser355Ala) c.251+8433T>G c.1093T>G (p.Ser365Ala) c.*1100T>G (n.*1100T>G) c.949T>G (p.Ser317Ala) c.1057T>G (p.Ser353Ala) c.*147T>G (n.*147T>G) c.1012T>G (p.Ser338Ala) | |
| 17 | g.6425486A>G | CA397394209 | AIPL1 | c.1129T>C (p.Ser377Pro) c.940T>C (p.Ser314Pro) c.*1001T>C (n.*1001T>C) c.1063T>C (p.Ser355Pro) c.251+8433T>C c.1093T>C (p.Ser365Pro) c.*1100T>C (n.*1100T>C) c.949T>C (p.Ser317Pro) c.1057T>C (p.Ser353Pro) c.*147T>C (n.*147T>C) c.1012T>C (p.Ser338Pro) | |
| 17 | g.6425486A>T | CA8328305 | AIPL1 | c.1129T>A (p.Ser377Thr) c.940T>A (p.Ser314Thr) c.*1001T>A (n.*1001T>A) c.1063T>A (p.Ser355Thr) c.251+8433T>A c.1093T>A (p.Ser365Thr) c.*1100T>A (n.*1100T>A) c.949T>A (p.Ser317Thr) c.1057T>A (p.Ser353Thr) c.*147T>A (n.*147T>A) c.1012T>A (p.Ser338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425487C>A | CA497687278 | AIPL1 | c.1128G>T (p.Pro376=) c.939G>T (p.Pro313=) c.*1000G>T (n.*1000G>T) c.1062G>T (p.Pro354=) c.251+8432G>T c.1092G>T (p.Pro364=) c.*1099G>T (n.*1099G>T) c.948G>T (p.Pro316=) c.1056G>T (p.Pro352=) c.*146G>T (n.*146G>T) c.1011G>T (p.Pro337=) | |
| 17 | g.6425487C= | CA2245346512 | AIPL1 | c.1128G= (p.Pro376=) c.939G= (p.Pro313=) c.*1000G= (n.*1000G=) c.1062G= (p.Pro354=) c.251+8432G= c.1092G= (p.Pro364=) c.*1099G= (n.*1099G=) c.948G= (p.Pro316=) c.1056G= (p.Pro352=) c.*146G= (n.*146G=) c.1011G= (p.Pro337=) | |
| 17 | g.6425487C>G | CA497687280 | AIPL1 | c.1128G>C (p.Pro376=) c.939G>C (p.Pro313=) c.*1000G>C (n.*1000G>C) c.1062G>C (p.Pro354=) c.251+8432G>C c.1092G>C (p.Pro364=) c.*1099G>C (n.*1099G>C) c.948G>C (p.Pro316=) c.1056G>C (p.Pro352=) c.*146G>C (n.*146G>C) c.1011G>C (p.Pro337=) | |
| 17 | g.6425487C>T | CA497687279 | AIPL1 | c.1128G>A (p.Pro376=) c.939G>A (p.Pro313=) c.*1000G>A (n.*1000G>A) c.1062G>A (p.Pro354=) c.251+8432G>A c.1092G>A (p.Pro364=) c.*1099G>A (n.*1099G>A) c.948G>A (p.Pro316=) c.1056G>A (p.Pro352=) c.*146G>A (n.*146G>A) c.1011G>A (p.Pro337=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425487_6425488delinsCG | CA2245346511 | AIPL1 | c.1127_1128delinsCG (p.Pro376=) c.938_939delinsCG (p.Pro313=) c.*999_*1000delinsCG (n.*999_*1000delinsCG) c.1061_1062delinsCG (p.Pro354=) c.251+8431_251+8432delinsCG c.1091_1092delinsCG (p.Pro364=) c.*1098_*1099delinsCG (n.*1098_*1099delinsCG) c.947_948delinsCG (p.Pro316=) c.1055_1056delinsCG (p.Pro352=) c.*145_*146delinsCG (n.*145_*146delinsCG) c.1010_1011delinsCG (p.Pro337=) | |
| 17 | g.6425488G>A | CA397394210 | AIPL1 | c.1127C>T (p.Pro376Leu) c.938C>T (p.Pro313Leu) c.*999C>T (n.*999C>T) c.1061C>T (p.Pro354Leu) c.251+8431C>T c.1091C>T (p.Pro364Leu) c.*1098C>T (n.*1098C>T) c.947C>T (p.Pro316Leu) c.1055C>T (p.Pro352Leu) c.*145C>T (n.*145C>T) c.1010C>T (p.Pro337Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425488G>C | CA397394211 | AIPL1 | c.1127C>G (p.Pro376Arg) c.938C>G (p.Pro313Arg) c.*999C>G (n.*999C>G) c.1061C>G (p.Pro354Arg) c.251+8431C>G c.1091C>G (p.Pro364Arg) c.*1098C>G (n.*1098C>G) c.947C>G (p.Pro316Arg) c.1055C>G (p.Pro352Arg) c.*145C>G (n.*145C>G) c.1010C>G (p.Pro337Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425488G= | CA2245346514 | AIPL1 | c.1127C= (p.Pro376=) c.938C= (p.Pro313=) c.*999C= (n.*999C=) c.1061C= (p.Pro354=) c.251+8431C= c.1091C= (p.Pro364=) c.*1098C= (n.*1098C=) c.947C= (p.Pro316=) c.1055C= (p.Pro352=) c.*145C= (n.*145C=) c.1010C= (p.Pro337=) | |
| 17 | g.6425488G>T | CA397394212 | AIPL1 | c.1127C>A (p.Pro376Gln) c.938C>A (p.Pro313Gln) c.*999C>A (n.*999C>A) c.1061C>A (p.Pro354Gln) c.251+8431C>A c.1091C>A (p.Pro364Gln) c.*1098C>A (n.*1098C>A) c.947C>A (p.Pro316Gln) c.1055C>A (p.Pro352Gln) c.*145C>A (n.*145C>A) c.1010C>A (p.Pro337Gln) | gnomAD v3 gnomAD v4 |
| 17 | g.6425492dup | CA8328306 | AIPL1 | c.1127dup (p.Ser377ValfsTer?) c.938dup (p.Ser314ValfsTer?) c.*999dup (n.*999dup) c.1061dup (p.Ser355ValfsTer?) c.251+8431dup c.1091dup (p.Ser365ValfsTer?) c.*1098dup (n.*1098dup) c.947dup (p.Ser317ValfsTer?) c.1055dup (p.Ser353ValfsTer?) c.*145dup (n.*145dup) c.1010dup (p.Ser338ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425492del | CA645590904 | AIPL1 | c.1127del (p.Pro376ArgfsTer?) c.938del (p.Pro313ArgfsTer?) c.*999del (n.*999del) c.1061del (p.Pro354ArgfsTer?) c.251+8431del c.1091del (p.Pro364ArgfsTer?) c.*1098del (n.*1098del) c.947del (p.Pro316ArgfsTer?) c.1055del (p.Pro352ArgfsTer?) c.*145del (n.*145del) c.1010del (p.Pro337ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.6425489G>A | CA203312 | AIPL1 | c.1126C>T (p.Pro376Ser) c.937C>T (p.Pro313Ser) c.*998C>T (n.*998C>T) c.1060C>T (p.Pro354Ser) c.251+8430C>T c.1090C>T (p.Pro364Ser) c.*1097C>T (n.*1097C>T) c.946C>T (p.Pro316Ser) c.1054C>T (p.Pro352Ser) c.*144C>T (n.*144C>T) c.1009C>T (p.Pro337Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425489G>C | CA397394213 | AIPL1 | c.1126C>G (p.Pro376Ala) c.937C>G (p.Pro313Ala) c.*998C>G (n.*998C>G) c.1060C>G (p.Pro354Ala) c.251+8430C>G c.1090C>G (p.Pro364Ala) c.*1097C>G (n.*1097C>G) c.946C>G (p.Pro316Ala) c.1054C>G (p.Pro352Ala) c.*144C>G (n.*144C>G) c.1009C>G (p.Pro337Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425489G= | CA2245346518 | AIPL1 | c.1126C= (p.Pro376=) c.937C= (p.Pro313=) c.*998C= (n.*998C=) c.1060C= (p.Pro354=) c.251+8430C= c.1090C= (p.Pro364=) c.*1097C= (n.*1097C=) c.946C= (p.Pro316=) c.1054C= (p.Pro352=) c.*144C= (n.*144C=) c.1009C= (p.Pro337=) | |
| 17 | g.6425489G>T | CA397394214 | AIPL1 | c.1126C>A (p.Pro376Thr) c.937C>A (p.Pro313Thr) c.*998C>A (n.*998C>A) c.1060C>A (p.Pro354Thr) c.251+8430C>A c.1090C>A (p.Pro364Thr) c.*1097C>A (n.*1097C>A) c.946C>A (p.Pro316Thr) c.1054C>A (p.Pro352Thr) c.*144C>A (n.*144C>A) c.1009C>A (p.Pro337Thr) | gnomAD v4 |
| 17 | g.6425490G>A | CA497687281 | AIPL1 | c.1125C>T (p.Pro375=) c.936C>T (p.Pro312=) c.*997C>T (n.*997C>T) c.1059C>T (p.Pro353=) c.251+8429C>T c.1089C>T (p.Pro363=) c.*1096C>T (n.*1096C>T) c.945C>T (p.Pro315=) c.1053C>T (p.Pro351=) c.*143C>T (n.*143C>T) c.1008C>T (p.Pro336=) | gnomAD v4 |
| 17 | g.6425490G>C | CA497687283 | AIPL1 | c.1125C>G (p.Pro375=) c.936C>G (p.Pro312=) c.*997C>G (n.*997C>G) c.1059C>G (p.Pro353=) c.251+8429C>G c.1089C>G (p.Pro363=) c.*1096C>G (n.*1096C>G) c.945C>G (p.Pro315=) c.1053C>G (p.Pro351=) c.*143C>G (n.*143C>G) c.1008C>G (p.Pro336=) | |
| 17 | g.6425490G>T | CA497687282 | AIPL1 | c.1125C>A (p.Pro375=) c.936C>A (p.Pro312=) c.*997C>A (n.*997C>A) c.1059C>A (p.Pro353=) c.251+8429C>A c.1089C>A (p.Pro363=) c.*1096C>A (n.*1096C>A) c.945C>A (p.Pro315=) c.1053C>A (p.Pro351=) c.*143C>A (n.*143C>A) c.1008C>A (p.Pro336=) | gnomAD v4 COSMIC |
| 17 | g.6425504_6425599dup | CA2635688832 | AIPL1 | c.1030_1125dup (p.Pro375_Pro376insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.841_936dup (p.Pro312_Pro313insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*902_*997dup (n.*902_*997dup) c.964_1059dup (p.Pro353_Pro354insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.251+8334_251+8429dup c.994_1089dup (p.Pro363_Pro364insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*1001_*1096dup (n.*1001_*1096dup) c.850_945dup (p.Pro315_Pro316insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.958_1053dup (p.Pro351_Pro352insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*48_*143dup (n.*48_*143dup) c.913_1008dup (p.Pro336_Pro337insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) | gnomAD v4 |
| 17 | g.6425491G>A | CA397394215 | AIPL1 | c.1124C>T (p.Pro375Leu) c.935C>T (p.Pro312Leu) c.*996C>T (n.*996C>T) c.1058C>T (p.Pro353Leu) c.251+8428C>T c.1088C>T (p.Pro363Leu) c.*1095C>T (n.*1095C>T) c.944C>T (p.Pro315Leu) c.1052C>T (p.Pro351Leu) c.*142C>T (n.*142C>T) c.1007C>T (p.Pro336Leu) | gnomAD v4 |
| 17 | g.6425491G>C | CA397394216 | AIPL1 | c.1124C>G (p.Pro375Arg) c.935C>G (p.Pro312Arg) c.*996C>G (n.*996C>G) c.1058C>G (p.Pro353Arg) c.251+8428C>G c.1088C>G (p.Pro363Arg) c.*1095C>G (n.*1095C>G) c.944C>G (p.Pro315Arg) c.1052C>G (p.Pro351Arg) c.*142C>G (n.*142C>G) c.1007C>G (p.Pro336Arg) | |
| 17 | g.6425491G>T | CA397394217 | AIPL1 | c.1124C>A (p.Pro375His) c.935C>A (p.Pro312His) c.*996C>A (n.*996C>A) c.1058C>A (p.Pro353His) c.251+8428C>A c.1088C>A (p.Pro363His) c.*1095C>A (n.*1095C>A) c.944C>A (p.Pro315His) c.1052C>A (p.Pro351His) c.*142C>A (n.*142C>A) c.1007C>A (p.Pro336His) | |
| 17 | g.6425492G>A | CA397394218 | AIPL1 | c.1123C>T (p.Pro375Ser) c.934C>T (p.Pro312Ser) c.*995C>T (n.*995C>T) c.1057C>T (p.Pro353Ser) c.251+8427C>T c.1087C>T (p.Pro363Ser) c.*1094C>T (n.*1094C>T) c.943C>T (p.Pro315Ser) c.1051C>T (p.Pro351Ser) c.*141C>T (n.*141C>T) c.1006C>T (p.Pro336Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425492G>C | CA397394219 | AIPL1 | c.1123C>G (p.Pro375Ala) c.934C>G (p.Pro312Ala) c.*995C>G (n.*995C>G) c.1057C>G (p.Pro353Ala) c.251+8427C>G c.1087C>G (p.Pro363Ala) c.*1094C>G (n.*1094C>G) c.943C>G (p.Pro315Ala) c.1051C>G (p.Pro351Ala) c.*141C>G (n.*141C>G) c.1006C>G (p.Pro336Ala) | |
| 17 | g.6425492G= | CA2245346524 | AIPL1 | c.1123C= (p.Pro375=) c.934C= (p.Pro312=) c.*995C= (n.*995C=) c.1057C= (p.Pro353=) c.251+8427C= c.1087C= (p.Pro363=) c.*1094C= (n.*1094C=) c.943C= (p.Pro315=) c.1051C= (p.Pro351=) c.*141C= (n.*141C=) c.1006C= (p.Pro336=) | |
| 17 | g.6425492G>T | CA397394220 | AIPL1 | c.1123C>A (p.Pro375Thr) c.934C>A (p.Pro312Thr) c.*995C>A (n.*995C>A) c.1057C>A (p.Pro353Thr) c.251+8427C>A c.1087C>A (p.Pro363Thr) c.*1094C>A (n.*1094C>A) c.943C>A (p.Pro315Thr) c.1051C>A (p.Pro351Thr) c.*141C>A (n.*141C>A) c.1006C>A (p.Pro336Thr) | ClinVar gnomAD v4 |
| 17 | g.6425493T>A | CA497687284 | AIPL1 | c.1122A>T (p.Pro374=) c.933A>T (p.Pro311=) c.*994A>T (n.*994A>T) c.1056A>T (p.Pro352=) c.251+8426A>T c.1086A>T (p.Pro362=) c.*1093A>T (n.*1093A>T) c.942A>T (p.Pro314=) c.1050A>T (p.Pro350=) c.*140A>T (n.*140A>T) c.1005A>T (p.Pro335=) | |
| 17 | g.6425493T>C | CA497687285 | AIPL1 | c.1122A>G (p.Pro374=) c.933A>G (p.Pro311=) c.*994A>G (n.*994A>G) c.1056A>G (p.Pro352=) c.251+8426A>G c.1086A>G (p.Pro362=) c.*1093A>G (n.*1093A>G) c.942A>G (p.Pro314=) c.1050A>G (p.Pro350=) c.*140A>G (n.*140A>G) c.1005A>G (p.Pro335=) | |
| 17 | g.6425493T>G | CA497687286 | AIPL1 | c.1122A>C (p.Pro374=) c.933A>C (p.Pro311=) c.*994A>C (n.*994A>C) c.1056A>C (p.Pro352=) c.251+8426A>C c.1086A>C (p.Pro362=) c.*1093A>C (n.*1093A>C) c.942A>C (p.Pro314=) c.1050A>C (p.Pro350=) c.*140A>C (n.*140A>C) c.1005A>C (p.Pro335=) | |
| 17 | g.6425501_6425512dup | CA8328307 | AIPL1 | c.1111_1122dup (p.Pro374_Pro375insAlaThrGluPro) c.922_933dup (p.Pro311_Pro312insAlaThrGluPro) c.*983_*994dup (n.*983_*994dup) c.1045_1056dup (p.Pro352_Pro353insAlaThrGluPro) c.251+8415_251+8426dup c.1075_1086dup (p.Pro362_Pro363insAlaThrGluPro) c.*1082_*1093dup (n.*1082_*1093dup) c.931_942dup (p.Pro314_Pro315insAlaThrGluPro) c.1039_1050dup (p.Pro350_Pro351insAlaThrGluPro) c.*129_*140dup (n.*129_*140dup) c.994_1005dup (p.Pro335_Pro336insAlaThrGluPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425494G>A | CA397394221 | AIPL1 | c.1121C>T (p.Pro374Leu) c.932C>T (p.Pro311Leu) c.*993C>T (n.*993C>T) c.1055C>T (p.Pro352Leu) c.251+8425C>T c.1085C>T (p.Pro362Leu) c.*1092C>T (n.*1092C>T) c.941C>T (p.Pro314Leu) c.1049C>T (p.Pro350Leu) c.*139C>T (n.*139C>T) c.1004C>T (p.Pro335Leu) | gnomAD v4 |
| 17 | g.6425494G>C | CA397394222 | AIPL1 | c.1121C>G (p.Pro374Arg) c.932C>G (p.Pro311Arg) c.*993C>G (n.*993C>G) c.1055C>G (p.Pro352Arg) c.251+8425C>G c.1085C>G (p.Pro362Arg) c.*1092C>G (n.*1092C>G) c.941C>G (p.Pro314Arg) c.1049C>G (p.Pro350Arg) c.*139C>G (n.*139C>G) c.1004C>G (p.Pro335Arg) | |
| 17 | g.6425494G>T | CA397394223 | AIPL1 | c.1121C>A (p.Pro374Gln) c.932C>A (p.Pro311Gln) c.*993C>A (n.*993C>A) c.1055C>A (p.Pro352Gln) c.251+8425C>A c.1085C>A (p.Pro362Gln) c.*1092C>A (n.*1092C>A) c.941C>A (p.Pro314Gln) c.1049C>A (p.Pro350Gln) c.*139C>A (n.*139C>A) c.1004C>A (p.Pro335Gln) | gnomAD v4 |
| 17 | g.6425495G>A | CA397394224 | AIPL1 | c.1120C>T (p.Pro374Ser) c.931C>T (p.Pro311Ser) c.*992C>T (n.*992C>T) c.1054C>T (p.Pro352Ser) c.251+8424C>T c.1084C>T (p.Pro362Ser) c.*1091C>T (n.*1091C>T) c.940C>T (p.Pro314Ser) c.1048C>T (p.Pro350Ser) c.*138C>T (n.*138C>T) c.1003C>T (p.Pro335Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425495G>C | CA397394225 | AIPL1 | c.1120C>G (p.Pro374Ala) c.931C>G (p.Pro311Ala) c.*992C>G (n.*992C>G) c.1054C>G (p.Pro352Ala) c.251+8424C>G c.1084C>G (p.Pro362Ala) c.*1091C>G (n.*1091C>G) c.940C>G (p.Pro314Ala) c.1048C>G (p.Pro350Ala) c.*138C>G (n.*138C>G) c.1003C>G (p.Pro335Ala) | |
| 17 | g.6425495G= | CA2245346531 | AIPL1 | c.1120C= (p.Pro374=) c.931C= (p.Pro311=) c.*992C= (n.*992C=) c.1054C= (p.Pro352=) c.251+8424C= c.1084C= (p.Pro362=) c.*1091C= (n.*1091C=) c.940C= (p.Pro314=) c.1048C= (p.Pro350=) c.*138C= (n.*138C=) c.1003C= (p.Pro335=) | |
| 17 | g.6425495G>T | CA397394226 | AIPL1 | c.1120C>A (p.Pro374Thr) c.931C>A (p.Pro311Thr) c.*992C>A (n.*992C>A) c.1054C>A (p.Pro352Thr) c.251+8424C>A c.1084C>A (p.Pro362Thr) c.*1091C>A (n.*1091C>A) c.940C>A (p.Pro314Thr) c.1048C>A (p.Pro350Thr) c.*138C>A (n.*138C>A) c.1003C>A (p.Pro335Thr) | gnomAD v4 |
| 17 | g.6425496C>A | CA397394227 | AIPL1 | c.1119G>T (p.Glu373Asp) c.930G>T (p.Glu310Asp) c.*991G>T (n.*991G>T) c.1053G>T (p.Glu351Asp) c.251+8423G>T c.1083G>T (p.Glu361Asp) c.*1090G>T (n.*1090G>T) c.939G>T (p.Glu313Asp) c.1047G>T (p.Glu349Asp) c.*137G>T (n.*137G>T) c.1002G>T (p.Glu334Asp) | gnomAD v4 |
| 17 | g.6425496C>G | CA397394228 | AIPL1 | c.1119G>C (p.Glu373Asp) c.930G>C (p.Glu310Asp) c.*991G>C (n.*991G>C) c.1053G>C (p.Glu351Asp) c.251+8423G>C c.1083G>C (p.Glu361Asp) c.*1090G>C (n.*1090G>C) c.939G>C (p.Glu313Asp) c.1047G>C (p.Glu349Asp) c.*137G>C (n.*137G>C) c.1002G>C (p.Glu334Asp) | |
| 17 | g.6425496C>T | CA497687287 | AIPL1 | c.1119G>A (p.Glu373=) c.930G>A (p.Glu310=) c.*991G>A (n.*991G>A) c.1053G>A (p.Glu351=) c.251+8423G>A c.1083G>A (p.Glu361=) c.*1090G>A (n.*1090G>A) c.939G>A (p.Glu313=) c.1047G>A (p.Glu349=) c.*137G>A (n.*137G>A) c.1002G>A (p.Glu334=) | gnomAD v4 |
| 17 | g.6425497T>A | CA397394229 | AIPL1 | c.1118A>T (p.Glu373Val) c.929A>T (p.Glu310Val) c.*990A>T (n.*990A>T) c.1052A>T (p.Glu351Val) c.251+8422A>T c.1082A>T (p.Glu361Val) c.*1089A>T (n.*1089A>T) c.938A>T (p.Glu313Val) c.1046A>T (p.Glu349Val) c.*136A>T (n.*136A>T) c.1001A>T (p.Glu334Val) | gnomAD v4 |
| 17 | g.6425497T>C | CA397394230 | AIPL1 | c.1118A>G (p.Glu373Gly) c.929A>G (p.Glu310Gly) c.*990A>G (n.*990A>G) c.1052A>G (p.Glu351Gly) c.251+8422A>G c.1082A>G (p.Glu361Gly) c.*1089A>G (n.*1089A>G) c.938A>G (p.Glu313Gly) c.1046A>G (p.Glu349Gly) c.*136A>G (n.*136A>G) c.1001A>G (p.Glu334Gly) | |
| 17 | g.6425497T>G | CA397394231 | AIPL1 | c.1118A>C (p.Glu373Ala) c.929A>C (p.Glu310Ala) c.*990A>C (n.*990A>C) c.1052A>C (p.Glu351Ala) c.251+8422A>C c.1082A>C (p.Glu361Ala) c.*1089A>C (n.*1089A>C) c.938A>C (p.Glu313Ala) c.1046A>C (p.Glu349Ala) c.*136A>C (n.*136A>C) c.1001A>C (p.Glu334Ala) | |
| 17 | g.6425498C>A | CA397394232 | AIPL1 | c.1117G>T (p.Glu373Ter) c.928G>T (p.Glu310Ter) c.*989G>T (n.*989G>T) c.1051G>T (p.Glu351Ter) c.251+8421G>T c.1081G>T (p.Glu361Ter) c.*1088G>T (n.*1088G>T) c.937G>T (p.Glu313Ter) c.1045G>T (p.Glu349Ter) c.*135G>T (n.*135G>T) c.1000G>T (p.Glu334Ter) | |
| 17 | g.6425498C>G | CA397394233 | AIPL1 | c.1117G>C (p.Glu373Gln) c.928G>C (p.Glu310Gln) c.*989G>C (n.*989G>C) c.1051G>C (p.Glu351Gln) c.251+8421G>C c.1081G>C (p.Glu361Gln) c.*1088G>C (n.*1088G>C) c.937G>C (p.Glu313Gln) c.1045G>C (p.Glu349Gln) c.*135G>C (n.*135G>C) c.1000G>C (p.Glu334Gln) | |
| 17 | g.6425498C>T | CA397394234 | AIPL1 | c.1117G>A (p.Glu373Lys) c.928G>A (p.Glu310Lys) c.*989G>A (n.*989G>A) c.1051G>A (p.Glu351Lys) c.251+8421G>A c.1081G>A (p.Glu361Lys) c.*1088G>A (n.*1088G>A) c.937G>A (p.Glu313Lys) c.1045G>A (p.Glu349Lys) c.*135G>A (n.*135G>A) c.1000G>A (p.Glu334Lys) | |
| 17 | g.6425499T>A | CA497687288 | AIPL1 | c.1116A>T (p.Thr372=) c.927A>T (p.Thr309=) c.*988A>T (n.*988A>T) c.1050A>T (p.Thr350=) c.251+8420A>T c.1080A>T (p.Thr360=) c.*1087A>T (n.*1087A>T) c.936A>T (p.Thr312=) c.1044A>T (p.Thr348=) c.*134A>T (n.*134A>T) c.999A>T (p.Thr333=) | |
| 17 | g.6425499T>C | CA497687289 | AIPL1 | c.1116A>G (p.Thr372=) c.927A>G (p.Thr309=) c.*988A>G (n.*988A>G) c.1050A>G (p.Thr350=) c.251+8420A>G c.1080A>G (p.Thr360=) c.*1087A>G (n.*1087A>G) c.936A>G (p.Thr312=) c.1044A>G (p.Thr348=) c.*134A>G (n.*134A>G) c.999A>G (p.Thr333=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425499T>G | CA497687290 | AIPL1 | c.1116A>C (p.Thr372=) c.927A>C (p.Thr309=) c.*988A>C (n.*988A>C) c.1050A>C (p.Thr350=) c.251+8420A>C c.1080A>C (p.Thr360=) c.*1087A>C (n.*1087A>C) c.936A>C (p.Thr312=) c.1044A>C (p.Thr348=) c.*134A>C (n.*134A>C) c.999A>C (p.Thr333=) | ClinVar |
| 17 | g.6425499T= | CA2245346534 | AIPL1 | c.1116A= (p.Thr372=) c.927A= (p.Thr309=) c.*988A= (n.*988A=) c.1050A= (p.Thr350=) c.251+8420A= c.1080A= (p.Thr360=) c.*1087A= (n.*1087A=) c.936A= (p.Thr312=) c.1044A= (p.Thr348=) c.*134A= (n.*134A=) c.999A= (p.Thr333=) | |
| 17 | g.6425501_6425502dup | CA2635688833 | AIPL1 | c.1115_1116dup (p.Glu373GlnfsTer?) c.926_927dup (p.Glu310GlnfsTer?) c.*987_*988dup (n.*987_*988dup) c.1049_1050dup (p.Glu351GlnfsTer?) c.251+8419_251+8420dup c.1079_1080dup (p.Glu361GlnfsTer?) c.*1086_*1087dup (n.*1086_*1087dup) c.935_936dup (p.Glu313GlnfsTer?) c.1043_1044dup (p.Glu349GlnfsTer?) c.*133_*134dup (n.*133_*134dup) c.998_999dup (p.Glu334GlnfsTer?) | gnomAD v4 |
| 17 | g.6425500G>A | CA397394237 | AIPL1 | c.1115C>T (p.Thr372Ile) c.926C>T (p.Thr309Ile) c.*987C>T (n.*987C>T) c.1049C>T (p.Thr350Ile) c.251+8419C>T c.1079C>T (p.Thr360Ile) c.*1086C>T (n.*1086C>T) c.935C>T (p.Thr312Ile) c.1043C>T (p.Thr348Ile) c.*133C>T (n.*133C>T) c.998C>T (p.Thr333Ile) | gnomAD v4 |
| 17 | g.6425500G>C | CA397394236 | AIPL1 | c.1115C>G (p.Thr372Arg) c.926C>G (p.Thr309Arg) c.*987C>G (n.*987C>G) c.1049C>G (p.Thr350Arg) c.251+8419C>G c.1079C>G (p.Thr360Arg) c.*1086C>G (n.*1086C>G) c.935C>G (p.Thr312Arg) c.1043C>G (p.Thr348Arg) c.*133C>G (n.*133C>G) c.998C>G (p.Thr333Arg) | |
| 17 | g.6425500G>T | CA397394235 | AIPL1 | c.1115C>A (p.Thr372Lys) c.926C>A (p.Thr309Lys) c.*987C>A (n.*987C>A) c.1049C>A (p.Thr350Lys) c.251+8419C>A c.1079C>A (p.Thr360Lys) c.*1086C>A (n.*1086C>A) c.935C>A (p.Thr312Lys) c.1043C>A (p.Thr348Lys) c.*133C>A (n.*133C>A) c.998C>A (p.Thr333Lys) | gnomAD v4 |
| 17 | g.6425501T>A | CA397394238 | AIPL1 | c.1114A>T (p.Thr372Ser) c.925A>T (p.Thr309Ser) c.*986A>T (n.*986A>T) c.1048A>T (p.Thr350Ser) c.251+8418A>T c.1078A>T (p.Thr360Ser) c.*1085A>T (n.*1085A>T) c.934A>T (p.Thr312Ser) c.1042A>T (p.Thr348Ser) c.*132A>T (n.*132A>T) c.997A>T (p.Thr333Ser) | |
| 17 | g.6425501T>C | CA397394239 | AIPL1 | c.1114A>G (p.Thr372Ala) c.925A>G (p.Thr309Ala) c.*986A>G (n.*986A>G) c.1048A>G (p.Thr350Ala) c.251+8418A>G c.1078A>G (p.Thr360Ala) c.*1085A>G (n.*1085A>G) c.934A>G (p.Thr312Ala) c.1042A>G (p.Thr348Ala) c.*132A>G (n.*132A>G) c.997A>G (p.Thr333Ala) | |
| 17 | g.6425501T>G | CA397394240 | AIPL1 | c.1114A>C (p.Thr372Pro) c.925A>C (p.Thr309Pro) c.*986A>C (n.*986A>C) c.1048A>C (p.Thr350Pro) c.251+8418A>C c.1078A>C (p.Thr360Pro) c.*1085A>C (n.*1085A>C) c.934A>C (p.Thr312Pro) c.1042A>C (p.Thr348Pro) c.*132A>C (n.*132A>C) c.997A>C (p.Thr333Pro) | |
| 17 | g.6425502G>A | CA497687291 | AIPL1 | c.1113C>T (p.Ala371=) c.924C>T (p.Ala308=) c.*985C>T (n.*985C>T) c.1047C>T (p.Ala349=) c.251+8417C>T c.1077C>T (p.Ala359=) c.*1084C>T (n.*1084C>T) c.933C>T (p.Ala311=) c.1041C>T (p.Ala347=) c.*131C>T (n.*131C>T) c.996C>T (p.Ala332=) | |
| 17 | g.6425502G>C | CA497687292 | AIPL1 | c.1113C>G (p.Ala371=) c.924C>G (p.Ala308=) c.*985C>G (n.*985C>G) c.1047C>G (p.Ala349=) c.251+8417C>G c.1077C>G (p.Ala359=) c.*1084C>G (n.*1084C>G) c.933C>G (p.Ala311=) c.1041C>G (p.Ala347=) c.*131C>G (n.*131C>G) c.996C>G (p.Ala332=) | |
| 17 | g.6425502G>T | CA497687293 | AIPL1 | c.1113C>A (p.Ala371=) c.924C>A (p.Ala308=) c.*985C>A (n.*985C>A) c.1047C>A (p.Ala349=) c.251+8417C>A c.1077C>A (p.Ala359=) c.*1084C>A (n.*1084C>A) c.933C>A (p.Ala311=) c.1041C>A (p.Ala347=) c.*131C>A (n.*131C>A) c.996C>A (p.Ala332=) | |
| 17 | g.6425502_6425513dup | CA2576142266 | AIPL1 | c.1102_1113dup (p.Ala371_Thr372insAlaGluProAla) c.913_924dup (p.Ala308_Thr309insAlaGluProAla) c.*974_*985dup (n.*974_*985dup) c.1036_1047dup (p.Ala349_Thr350insAlaGluProAla) c.251+8406_251+8417dup c.1066_1077dup (p.Ala359_Thr360insAlaGluProAla) c.*1073_*1084dup (n.*1073_*1084dup) c.922_933dup (p.Ala311_Thr312insAlaGluProAla) c.1030_1041dup (p.Ala347_Thr348insAlaGluProAla) c.*120_*131dup (n.*120_*131dup) c.985_996dup (p.Ala332_Thr333insAlaGluProAla) | |
| 17 | g.6425503G>A | CA397394241 | AIPL1 | c.1112C>T (p.Ala371Val) c.923C>T (p.Ala308Val) c.*984C>T (n.*984C>T) c.1046C>T (p.Ala349Val) c.251+8416C>T c.1076C>T (p.Ala359Val) c.*1083C>T (n.*1083C>T) c.932C>T (p.Ala311Val) c.1040C>T (p.Ala347Val) c.*130C>T (n.*130C>T) c.995C>T (p.Ala332Val) | gnomAD v4 |
| 17 | g.6425503G>C | CA8328308 | AIPL1 | c.1112C>G (p.Ala371Gly) c.923C>G (p.Ala308Gly) c.*984C>G (n.*984C>G) c.1046C>G (p.Ala349Gly) c.251+8416C>G c.1076C>G (p.Ala359Gly) c.*1083C>G (n.*1083C>G) c.932C>G (p.Ala311Gly) c.1040C>G (p.Ala347Gly) c.*130C>G (n.*130C>G) c.995C>G (p.Ala332Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6425503G= | CA2245346562 | AIPL1 | c.1112C= (p.Ala371=) c.923C= (p.Ala308=) c.*984C= (n.*984C=) c.1046C= (p.Ala349=) c.251+8416C= c.1076C= (p.Ala359=) c.*1083C= (n.*1083C=) c.932C= (p.Ala311=) c.1040C= (p.Ala347=) c.*130C= (n.*130C=) c.995C= (p.Ala332=) | |
| 17 | g.6425503G>T | CA397394242 | AIPL1 | c.1112C>A (p.Ala371Asp) c.923C>A (p.Ala308Asp) c.*984C>A (n.*984C>A) c.1046C>A (p.Ala349Asp) c.251+8416C>A c.1076C>A (p.Ala359Asp) c.*1083C>A (n.*1083C>A) c.932C>A (p.Ala311Asp) c.1040C>A (p.Ala347Asp) c.*130C>A (n.*130C>A) c.995C>A (p.Ala332Asp) | gnomAD v4 |
| 17 | g.6425504C>A | CA397394243 | AIPL1 | c.1111G>T (p.Ala371Ser) c.922G>T (p.Ala308Ser) c.*983G>T (n.*983G>T) c.1045G>T (p.Ala349Ser) c.251+8415G>T c.1075G>T (p.Ala359Ser) c.*1082G>T (n.*1082G>T) c.931G>T (p.Ala311Ser) c.1039G>T (p.Ala347Ser) c.*129G>T (n.*129G>T) c.994G>T (p.Ala332Ser) | |
| 17 | g.6425504C= | CA2245346565 | AIPL1 | c.1111G= (p.Ala371=) c.922G= (p.Ala308=) c.*983G= (n.*983G=) c.1045G= (p.Ala349=) c.251+8415G= c.1075G= (p.Ala359=) c.*1082G= (n.*1082G=) c.931G= (p.Ala311=) c.1039G= (p.Ala347=) c.*129G= (n.*129G=) c.994G= (p.Ala332=) | |
| 17 | g.6425504C>G | CA397394245 | AIPL1 | c.1111G>C (p.Ala371Pro) c.922G>C (p.Ala308Pro) c.*983G>C (n.*983G>C) c.1045G>C (p.Ala349Pro) c.251+8415G>C c.1075G>C (p.Ala359Pro) c.*1082G>C (n.*1082G>C) c.931G>C (p.Ala311Pro) c.1039G>C (p.Ala347Pro) c.*129G>C (n.*129G>C) c.994G>C (p.Ala332Pro) | |
| 17 | g.6425504C>T | CA397394244 | AIPL1 | c.1111G>A (p.Ala371Thr) c.922G>A (p.Ala308Thr) c.*983G>A (n.*983G>A) c.1045G>A (p.Ala349Thr) c.251+8415G>A c.1075G>A (p.Ala359Thr) c.*1082G>A (n.*1082G>A) c.931G>A (p.Ala311Thr) c.1039G>A (p.Ala347Thr) c.*129G>A (n.*129G>A) c.994G>A (p.Ala332Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.6425505T>A | CA497687296 | AIPL1 | c.1110A>T (p.Pro370=) c.921A>T (p.Pro307=) c.*982A>T (n.*982A>T) c.1044A>T (p.Pro348=) c.251+8414A>T c.1074A>T (p.Pro358=) c.*1081A>T (n.*1081A>T) c.930A>T (p.Pro310=) c.1038A>T (p.Pro346=) c.*128A>T (n.*128A>T) c.993A>T (p.Pro331=) | |
| 17 | g.6425505T>C | CA497687294 | AIPL1 | c.1110A>G (p.Pro370=) c.921A>G (p.Pro307=) c.*982A>G (n.*982A>G) c.1044A>G (p.Pro348=) c.251+8414A>G c.1074A>G (p.Pro358=) c.*1081A>G (n.*1081A>G) c.930A>G (p.Pro310=) c.1038A>G (p.Pro346=) c.*128A>G (n.*128A>G) c.993A>G (p.Pro331=) | |
| 17 | g.6425505T>G | CA497687295 | AIPL1 | c.1110A>C (p.Pro370=) c.921A>C (p.Pro307=) c.*982A>C (n.*982A>C) c.1044A>C (p.Pro348=) c.251+8414A>C c.1074A>C (p.Pro358=) c.*1081A>C (n.*1081A>C) c.930A>C (p.Pro310=) c.1038A>C (p.Pro346=) c.*128A>C (n.*128A>C) c.993A>C (p.Pro331=) | |
| 17 | g.6425506G>A | CA397394246 | AIPL1 | c.1109C>T (p.Pro370Leu) c.920C>T (p.Pro307Leu) c.*981C>T (n.*981C>T) c.1043C>T (p.Pro348Leu) c.251+8413C>T c.1073C>T (p.Pro358Leu) c.*1080C>T (n.*1080C>T) c.929C>T (p.Pro310Leu) c.1037C>T (p.Pro346Leu) c.*127C>T (n.*127C>T) c.992C>T (p.Pro331Leu) | |
| 17 | g.6425506G>C | CA397394247 | AIPL1 | c.1109C>G (p.Pro370Arg) c.920C>G (p.Pro307Arg) c.*981C>G (n.*981C>G) c.1043C>G (p.Pro348Arg) c.251+8413C>G c.1073C>G (p.Pro358Arg) c.*1080C>G (n.*1080C>G) c.929C>G (p.Pro310Arg) c.1037C>G (p.Pro346Arg) c.*127C>G (n.*127C>G) c.992C>G (p.Pro331Arg) | |
| 17 | g.6425506G>T | CA397394248 | AIPL1 | c.1109C>A (p.Pro370Gln) c.920C>A (p.Pro307Gln) c.*981C>A (n.*981C>A) c.1043C>A (p.Pro348Gln) c.251+8413C>A c.1073C>A (p.Pro358Gln) c.*1080C>A (n.*1080C>A) c.929C>A (p.Pro310Gln) c.1037C>A (p.Pro346Gln) c.*127C>A (n.*127C>A) c.992C>A (p.Pro331Gln) | |
| 17 | g.6425507G>A | CA8328309 | AIPL1 | c.1108C>T (p.Pro370Ser) c.919C>T (p.Pro307Ser) c.*980C>T (n.*980C>T) c.1042C>T (p.Pro348Ser) c.251+8412C>T c.1072C>T (p.Pro358Ser) c.*1079C>T (n.*1079C>T) c.928C>T (p.Pro310Ser) c.1036C>T (p.Pro346Ser) c.*126C>T (n.*126C>T) c.991C>T (p.Pro331Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425507G>C | CA397394249 | AIPL1 | c.1108C>G (p.Pro370Ala) c.919C>G (p.Pro307Ala) c.*980C>G (n.*980C>G) c.1042C>G (p.Pro348Ala) c.251+8412C>G c.1072C>G (p.Pro358Ala) c.*1079C>G (n.*1079C>G) c.928C>G (p.Pro310Ala) c.1036C>G (p.Pro346Ala) c.*126C>G (n.*126C>G) c.991C>G (p.Pro331Ala) | gnomAD v4 |
| 17 | g.6425507G= | CA2245346568 | AIPL1 | c.1108C= (p.Pro370=) c.919C= (p.Pro307=) c.*980C= (n.*980C=) c.1042C= (p.Pro348=) c.251+8412C= c.1072C= (p.Pro358=) c.*1079C= (n.*1079C=) c.928C= (p.Pro310=) c.1036C= (p.Pro346=) c.*126C= (n.*126C=) c.991C= (p.Pro331=) | |
| 17 | g.6425507G>T | CA397394250 | AIPL1 | c.1108C>A (p.Pro370Thr) c.919C>A (p.Pro307Thr) c.*980C>A (n.*980C>A) c.1042C>A (p.Pro348Thr) c.251+8412C>A c.1072C>A (p.Pro358Thr) c.*1079C>A (n.*1079C>A) c.928C>A (p.Pro310Thr) c.1036C>A (p.Pro346Thr) c.*126C>A (n.*126C>A) c.991C>A (p.Pro331Thr) | gnomAD v4 |
| 17 | g.6425516_6425539del | CA2635688834 | AIPL1 | c.1085_1108del (p.Leu362_Glu369del) c.896_919del (p.Leu299_Glu306del) c.*957_*980del (n.*957_*980del) c.1019_1042del (p.Leu340_Glu347del) c.251+8389_251+8412del c.1049_1072del (p.Leu350_Glu357del) c.*1056_*1079del (n.*1056_*1079del) c.905_928del (p.Leu302_Glu309del) c.1013_1036del (p.Leu338_Glu345del) c.*103_*126del (n.*103_*126del) c.968_991del (p.Leu323_Glu330del) | gnomAD v4 |
| 17 | g.6425508C>A | CA397394251 | AIPL1 | c.1107G>T (p.Glu369Asp) c.918G>T (p.Glu306Asp) c.*979G>T (n.*979G>T) c.1041G>T (p.Glu347Asp) c.251+8411G>T c.1071G>T (p.Glu357Asp) c.*1078G>T (n.*1078G>T) c.927G>T (p.Glu309Asp) c.1035G>T (p.Glu345Asp) c.*125G>T (n.*125G>T) c.990G>T (p.Glu330Asp) | |
| 17 | g.6425508C= | CA2245346574 | AIPL1 | c.1107G= (p.Glu369=) c.918G= (p.Glu306=) c.*979G= (n.*979G=) c.1041G= (p.Glu347=) c.251+8411G= c.1071G= (p.Glu357=) c.*1078G= (n.*1078G=) c.927G= (p.Glu309=) c.1035G= (p.Glu345=) c.*125G= (n.*125G=) c.990G= (p.Glu330=) | |
| 17 | g.6425508C>G | CA8328310 | AIPL1 | c.1107G>C (p.Glu369Asp) c.918G>C (p.Glu306Asp) c.*979G>C (n.*979G>C) c.1041G>C (p.Glu347Asp) c.251+8411G>C c.1071G>C (p.Glu357Asp) c.*1078G>C (n.*1078G>C) c.927G>C (p.Glu309Asp) c.1035G>C (p.Glu345Asp) c.*125G>C (n.*125G>C) c.990G>C (p.Glu330Asp) | dbSNP ExAC |
| 17 | g.6425508C>T | CA497687297 | AIPL1 | c.1107G>A (p.Glu369=) c.918G>A (p.Glu306=) c.*979G>A (n.*979G>A) c.1041G>A (p.Glu347=) c.251+8411G>A c.1071G>A (p.Glu357=) c.*1078G>A (n.*1078G>A) c.927G>A (p.Glu309=) c.1035G>A (p.Glu345=) c.*125G>A (n.*125G>A) c.990G>A (p.Glu330=) | gnomAD v4 |
| 17 | g.6425509T>A | CA397394252 | AIPL1 | c.1106A>T (p.Glu369Val) c.917A>T (p.Glu306Val) c.*978A>T (n.*978A>T) c.1040A>T (p.Glu347Val) c.251+8410A>T c.1070A>T (p.Glu357Val) c.*1077A>T (n.*1077A>T) c.926A>T (p.Glu309Val) c.1034A>T (p.Glu345Val) c.*124A>T (n.*124A>T) c.989A>T (p.Glu330Val) | |
| 17 | g.6425509T>C | CA397394253 | AIPL1 | c.1106A>G (p.Glu369Gly) c.917A>G (p.Glu306Gly) c.*978A>G (n.*978A>G) c.1040A>G (p.Glu347Gly) c.251+8410A>G c.1070A>G (p.Glu357Gly) c.*1077A>G (n.*1077A>G) c.926A>G (p.Glu309Gly) c.1034A>G (p.Glu345Gly) c.*124A>G (n.*124A>G) c.989A>G (p.Glu330Gly) | gnomAD v4 |
| 17 | g.6425509T>G | CA397394254 | AIPL1 | c.1106A>C (p.Glu369Ala) c.917A>C (p.Glu306Ala) c.*978A>C (n.*978A>C) c.1040A>C (p.Glu347Ala) c.251+8410A>C c.1070A>C (p.Glu357Ala) c.*1077A>C (n.*1077A>C) c.926A>C (p.Glu309Ala) c.1034A>C (p.Glu345Ala) c.*124A>C (n.*124A>C) c.989A>C (p.Glu330Ala) | |
| 17 | g.6425510C>A | CA397394255 | AIPL1 | c.1105G>T (p.Glu369Ter) c.916G>T (p.Glu306Ter) c.*977G>T (n.*977G>T) c.1039G>T (p.Glu347Ter) c.251+8409G>T c.1069G>T (p.Glu357Ter) c.*1076G>T (n.*1076G>T) c.925G>T (p.Glu309Ter) c.1033G>T (p.Glu345Ter) c.*123G>T (n.*123G>T) c.988G>T (p.Glu330Ter) | COSMIC |
| 17 | g.6425510C>G | CA397394257 | AIPL1 | c.1105G>C (p.Glu369Gln) c.916G>C (p.Glu306Gln) c.*977G>C (n.*977G>C) c.1039G>C (p.Glu347Gln) c.251+8409G>C c.1069G>C (p.Glu357Gln) c.*1076G>C (n.*1076G>C) c.925G>C (p.Glu309Gln) c.1033G>C (p.Glu345Gln) c.*123G>C (n.*123G>C) c.988G>C (p.Glu330Gln) | |
| 17 | g.6425510C>T | CA397394256 | AIPL1 | c.1105G>A (p.Glu369Lys) c.916G>A (p.Glu306Lys) c.*977G>A (n.*977G>A) c.1039G>A (p.Glu347Lys) c.251+8409G>A c.1069G>A (p.Glu357Lys) c.*1076G>A (n.*1076G>A) c.925G>A (p.Glu309Lys) c.1033G>A (p.Glu345Lys) c.*123G>A (n.*123G>A) c.988G>A (p.Glu330Lys) |