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.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.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.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) | |
| 17 | g.6425511T>A | CA497687300 | AIPL1 | c.1104A>T (p.Ala368=) c.915A>T (p.Ala305=) c.*976A>T (n.*976A>T) c.1038A>T (p.Ala346=) c.251+8408A>T c.1068A>T (p.Ala356=) c.*1075A>T (n.*1075A>T) c.924A>T (p.Ala308=) c.1032A>T (p.Ala344=) c.*122A>T (n.*122A>T) c.987A>T (p.Ala329=) | gnomAD v4 |
| 17 | g.6425511T>C | CA497687298 | AIPL1 | c.1104A>G (p.Ala368=) c.915A>G (p.Ala305=) c.*976A>G (n.*976A>G) c.1038A>G (p.Ala346=) c.251+8408A>G c.1068A>G (p.Ala356=) c.*1075A>G (n.*1075A>G) c.924A>G (p.Ala308=) c.1032A>G (p.Ala344=) c.*122A>G (n.*122A>G) c.987A>G (p.Ala329=) | |
| 17 | g.6425511T>G | CA497687299 | AIPL1 | c.1104A>C (p.Ala368=) c.915A>C (p.Ala305=) c.*976A>C (n.*976A>C) c.1038A>C (p.Ala346=) c.251+8408A>C c.1068A>C (p.Ala356=) c.*1075A>C (n.*1075A>C) c.924A>C (p.Ala308=) c.1032A>C (p.Ala344=) c.*122A>C (n.*122A>C) c.987A>C (p.Ala329=) | |
| 17 | g.6425512G>A | CA397394258 | AIPL1 | c.1103C>T (p.Ala368Val) c.914C>T (p.Ala305Val) c.*975C>T (n.*975C>T) c.1037C>T (p.Ala346Val) c.251+8407C>T c.1067C>T (p.Ala356Val) c.*1074C>T (n.*1074C>T) c.923C>T (p.Ala308Val) c.1031C>T (p.Ala344Val) c.*121C>T (n.*121C>T) c.986C>T (p.Ala329Val) | gnomAD v4 |