Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425688C>A | CA397394636 | AIPL1 | c.927G>T (p.Glu309Asp) c.738G>T (p.Glu246Asp) c.*799G>T (n.*799G>T) c.861G>T (p.Glu287Asp) c.251+8231G>T c.891G>T (p.Glu297Asp) c.*898G>T (n.*898G>T) c.747G>T (p.Glu249Asp) c.855G>T (p.Glu285Asp) c.810G>T (p.Glu270Asp) | |
17 | g.6425688C>G | CA397394637 | AIPL1 | c.927G>C (p.Glu309Asp) c.738G>C (p.Glu246Asp) c.*799G>C (n.*799G>C) c.861G>C (p.Glu287Asp) c.251+8231G>C c.891G>C (p.Glu297Asp) c.*898G>C (n.*898G>C) c.747G>C (p.Glu249Asp) c.855G>C (p.Glu285Asp) c.810G>C (p.Glu270Asp) | |
17 | g.6425688C>T | CA497687463 | AIPL1 | c.927G>A (p.Glu309=) c.738G>A (p.Glu246=) c.*799G>A (n.*799G>A) c.861G>A (p.Glu287=) c.251+8231G>A c.891G>A (p.Glu297=) c.*898G>A (n.*898G>A) c.747G>A (p.Glu249=) c.855G>A (p.Glu285=) c.810G>A (p.Glu270=) | |
17 | g.6425688_6425689insAGCTCCCTGCGGTTCAGG | CA2695224199 | AIPL1 | c.926_927insCCTGAACCGCAGGGAGCT (p.Glu309delinsAspLeuAsnArgArgGluLeu) c.737_738insCCTGAACCGCAGGGAGCT (p.Glu246delinsAspLeuAsnArgArgGluLeu) c.*798_*799insCCTGAACCGCAGGGAGCT (n.*798_*799insCCTGAACCGCAGGGAGCT) c.860_861insCCTGAACCGCAGGGAGCT (p.Glu287delinsAspLeuAsnArgArgGluLeu) c.251+8230_251+8231insCCTGAACCGCAGGGAGCT c.890_891insCCTGAACCGCAGGGAGCT (p.Glu297delinsAspLeuAsnArgArgGluLeu) c.*897_*898insCCTGAACCGCAGGGAGCT (n.*897_*898insCCTGAACCGCAGGGAGCT) c.746_747insCCTGAACCGCAGGGAGCT (p.Glu249delinsAspLeuAsnArgArgGluLeu) c.854_855insCCTGAACCGCAGGGAGCT (p.Glu285delinsAspLeuAsnArgArgGluLeu) c.809_810insCCTGAACCGCAGGGAGCT (p.Glu270delinsAspLeuAsnArgArgGluLeu) | |
17 | g.6425689T>A | CA397394638 | AIPL1 | c.926A>T (p.Glu309Val) c.737A>T (p.Glu246Val) c.*798A>T (n.*798A>T) c.860A>T (p.Glu287Val) c.251+8230A>T c.890A>T (p.Glu297Val) c.*897A>T (n.*897A>T) c.746A>T (p.Glu249Val) c.854A>T (p.Glu285Val) c.809A>T (p.Glu270Val) | |
17 | g.6425689T>C | CA397394639 | AIPL1 | c.926A>G (p.Glu309Gly) c.737A>G (p.Glu246Gly) c.*798A>G (n.*798A>G) c.860A>G (p.Glu287Gly) c.251+8230A>G c.890A>G (p.Glu297Gly) c.*897A>G (n.*897A>G) c.746A>G (p.Glu249Gly) c.854A>G (p.Glu285Gly) c.809A>G (p.Glu270Gly) | |
17 | g.6425689T>G | CA397394640 | AIPL1 | c.926A>C (p.Glu309Ala) c.737A>C (p.Glu246Ala) c.*798A>C (n.*798A>C) c.860A>C (p.Glu287Ala) c.251+8230A>C c.890A>C (p.Glu297Ala) c.*897A>C (n.*897A>C) c.746A>C (p.Glu249Ala) c.854A>C (p.Glu285Ala) c.809A>C (p.Glu270Ala) | |
17 | g.6425690C>A | CA397394643 | AIPL1 | c.925G>T (p.Glu309Ter) c.736G>T (p.Glu246Ter) c.*797G>T (n.*797G>T) c.859G>T (p.Glu287Ter) c.251+8229G>T c.889G>T (p.Glu297Ter) c.*896G>T (n.*896G>T) c.745G>T (p.Glu249Ter) c.853G>T (p.Glu285Ter) c.808G>T (p.Glu270Ter) | |
17 | g.6425690C>G | CA397394641 | AIPL1 | c.925G>C (p.Glu309Gln) c.736G>C (p.Glu246Gln) c.*797G>C (n.*797G>C) c.859G>C (p.Glu287Gln) c.251+8229G>C c.889G>C (p.Glu297Gln) c.*896G>C (n.*896G>C) c.745G>C (p.Glu249Gln) c.853G>C (p.Glu285Gln) c.808G>C (p.Glu270Gln) | gnomAD v4 |
17 | g.6425690C>T | CA397394642 | AIPL1 | c.925G>A (p.Glu309Lys) c.736G>A (p.Glu246Lys) c.*797G>A (n.*797G>A) c.859G>A (p.Glu287Lys) c.251+8229G>A c.889G>A (p.Glu297Lys) c.*896G>A (n.*896G>A) c.745G>A (p.Glu249Lys) c.853G>A (p.Glu285Lys) c.808G>A (p.Glu270Lys) | |
17 | g.6425691C>A | CA497687466 | AIPL1 | c.924G>T (p.Leu308=) c.735G>T (p.Leu245=) c.*796G>T (n.*796G>T) c.858G>T (p.Leu286=) c.251+8228G>T c.888G>T (p.Leu296=) c.*895G>T (n.*895G>T) c.744G>T (p.Leu248=) c.852G>T (p.Leu284=) c.807G>T (p.Leu269=) | |
17 | g.6425691C>G | CA497687468 | AIPL1 | c.924G>C (p.Leu308=) c.735G>C (p.Leu245=) c.*796G>C (n.*796G>C) c.858G>C (p.Leu286=) c.251+8228G>C c.888G>C (p.Leu296=) c.*895G>C (n.*895G>C) c.744G>C (p.Leu248=) c.852G>C (p.Leu284=) c.807G>C (p.Leu269=) | |
17 | g.6425691C>T | CA497687470 | AIPL1 | c.924G>A (p.Leu308=) c.735G>A (p.Leu245=) c.*796G>A (n.*796G>A) c.858G>A (p.Leu286=) c.251+8228G>A c.888G>A (p.Leu296=) c.*895G>A (n.*895G>A) c.744G>A (p.Leu248=) c.852G>A (p.Leu284=) c.807G>A (p.Leu269=) | gnomAD v4 |
17 | g.6425692A= | CA2245346957 | AIPL1 | c.923T= (p.Leu308=) c.734T= (p.Leu245=) c.*795T= (n.*795T=) c.857T= (p.Leu286=) c.251+8227T= c.887T= (p.Leu296=) c.*894T= (n.*894T=) c.743T= (p.Leu248=) c.851T= (p.Leu284=) c.806T= (p.Leu269=) | |
17 | g.6425692A>C | CA397394644 | AIPL1 | c.923T>G (p.Leu308Arg) c.734T>G (p.Leu245Arg) c.*795T>G (n.*795T>G) c.857T>G (p.Leu286Arg) c.251+8227T>G c.887T>G (p.Leu296Arg) c.*894T>G (n.*894T>G) c.743T>G (p.Leu248Arg) c.851T>G (p.Leu284Arg) c.806T>G (p.Leu269Arg) | |
17 | g.6425692A>G | CA397394645 | AIPL1 | c.923T>C (p.Leu308Pro) c.734T>C (p.Leu245Pro) c.*795T>C (n.*795T>C) c.857T>C (p.Leu286Pro) c.251+8227T>C c.887T>C (p.Leu296Pro) c.*894T>C (n.*894T>C) c.743T>C (p.Leu248Pro) c.851T>C (p.Leu284Pro) c.806T>C (p.Leu269Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425692A>T | CA397394646 | AIPL1 | c.923T>A (p.Leu308Gln) c.734T>A (p.Leu245Gln) c.*795T>A (n.*795T>A) c.857T>A (p.Leu286Gln) c.251+8227T>A c.887T>A (p.Leu296Gln) c.*894T>A (n.*894T>A) c.743T>A (p.Leu248Gln) c.851T>A (p.Leu284Gln) c.806T>A (p.Leu269Gln) | dbSNP |
17 | g.6425693G>A | CA497687385 | AIPL1 | c.922C>T (p.Leu308=) c.733C>T (p.Leu245=) c.*794C>T (n.*794C>T) c.856C>T (p.Leu286=) c.251+8226C>T c.886C>T (p.Leu296=) c.*893C>T (n.*893C>T) c.742C>T (p.Leu248=) c.850C>T (p.Leu284=) c.805C>T (p.Leu269=) | gnomAD v4 |
17 | g.6425693G>C | CA397394647 | AIPL1 | c.922C>G (p.Leu308Val) c.733C>G (p.Leu245Val) c.*794C>G (n.*794C>G) c.856C>G (p.Leu286Val) c.251+8226C>G c.886C>G (p.Leu296Val) c.*893C>G (n.*893C>G) c.742C>G (p.Leu248Val) c.850C>G (p.Leu284Val) c.805C>G (p.Leu269Val) | |
17 | g.6425693G>T | CA397394648 | AIPL1 | c.922C>A (p.Leu308Met) c.733C>A (p.Leu245Met) c.*794C>A (n.*794C>A) c.856C>A (p.Leu286Met) c.251+8226C>A c.886C>A (p.Leu296Met) c.*893C>A (n.*893C>A) c.742C>A (p.Leu248Met) c.850C>A (p.Leu284Met) c.805C>A (p.Leu269Met) | gnomAD v4 |
17 | g.6425694C>A | CA497687387 | AIPL1 | c.921G>T (p.Leu307=) c.732G>T (p.Leu244=) c.*793G>T (n.*793G>T) c.855G>T (p.Leu285=) c.251+8225G>T c.885G>T (p.Leu295=) c.*892G>T (n.*892G>T) c.741G>T (p.Leu247=) c.849G>T (p.Leu283=) c.804G>T (p.Leu268=) | |
17 | g.6425694C>G | CA497687389 | AIPL1 | c.921G>C (p.Leu307=) c.732G>C (p.Leu244=) c.*793G>C (n.*793G>C) c.855G>C (p.Leu285=) c.251+8225G>C c.885G>C (p.Leu295=) c.*892G>C (n.*892G>C) c.741G>C (p.Leu247=) c.849G>C (p.Leu283=) c.804G>C (p.Leu268=) | |
17 | g.6425694C>T | CA497687390 | AIPL1 | c.921G>A (p.Leu307=) c.732G>A (p.Leu244=) c.*793G>A (n.*793G>A) c.855G>A (p.Leu285=) c.251+8225G>A c.885G>A (p.Leu295=) c.*892G>A (n.*892G>A) c.741G>A (p.Leu247=) c.849G>A (p.Leu283=) c.804G>A (p.Leu268=) | |
17 | g.6425695A= | CA2245346959 | AIPL1 | c.920T= (p.Leu307=) c.731T= (p.Leu244=) c.*792T= (n.*792T=) c.854T= (p.Leu285=) c.251+8224T= c.884T= (p.Leu295=) c.*891T= (n.*891T=) c.740T= (p.Leu247=) c.848T= (p.Leu283=) c.803T= (p.Leu268=) | |
17 | g.6425695A>C | CA397394651 | AIPL1 | c.920T>G (p.Leu307Arg) c.731T>G (p.Leu244Arg) c.*792T>G (n.*792T>G) c.854T>G (p.Leu285Arg) c.251+8224T>G c.884T>G (p.Leu295Arg) c.*891T>G (n.*891T>G) c.740T>G (p.Leu247Arg) c.848T>G (p.Leu283Arg) c.803T>G (p.Leu268Arg) | |
17 | g.6425695A>G | CA397394650 | AIPL1 | c.920T>C (p.Leu307Pro) c.731T>C (p.Leu244Pro) c.*792T>C (n.*792T>C) c.854T>C (p.Leu285Pro) c.251+8224T>C c.884T>C (p.Leu295Pro) c.*891T>C (n.*891T>C) c.740T>C (p.Leu247Pro) c.848T>C (p.Leu283Pro) c.803T>C (p.Leu268Pro) | ClinVar dbSNP gnomAD v2 |
17 | g.6425695A>T | CA397394649 | AIPL1 | c.920T>A (p.Leu307Gln) c.731T>A (p.Leu244Gln) c.*792T>A (n.*792T>A) c.854T>A (p.Leu285Gln) c.251+8224T>A c.884T>A (p.Leu295Gln) c.*891T>A (n.*891T>A) c.740T>A (p.Leu247Gln) c.848T>A (p.Leu283Gln) c.803T>A (p.Leu268Gln) | |
17 | g.6425696G>A | CA497687392 | AIPL1 | c.919C>T (p.Leu307=) c.730C>T (p.Leu244=) c.*791C>T (n.*791C>T) c.853C>T (p.Leu285=) c.251+8223C>T c.883C>T (p.Leu295=) c.*890C>T (n.*890C>T) c.739C>T (p.Leu247=) c.847C>T (p.Leu283=) c.802C>T (p.Leu268=) | |
17 | g.6425696G>C | CA8328354 | AIPL1 | c.919C>G (p.Leu307Val) c.730C>G (p.Leu244Val) c.*791C>G (n.*791C>G) c.853C>G (p.Leu285Val) c.251+8223C>G c.883C>G (p.Leu295Val) c.*890C>G (n.*890C>G) c.739C>G (p.Leu247Val) c.847C>G (p.Leu283Val) c.802C>G (p.Leu268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425696G= | CA2245346961 | AIPL1 | c.919C= (p.Leu307=) c.730C= (p.Leu244=) c.*791C= (n.*791C=) c.853C= (p.Leu285=) c.251+8223C= c.883C= (p.Leu295=) c.*890C= (n.*890C=) c.739C= (p.Leu247=) c.847C= (p.Leu283=) c.802C= (p.Leu268=) | |
17 | g.6425696G>T | CA397394652 | AIPL1 | c.919C>A (p.Leu307Met) c.730C>A (p.Leu244Met) c.*791C>A (n.*791C>A) c.853C>A (p.Leu285Met) c.251+8223C>A c.883C>A (p.Leu295Met) c.*890C>A (n.*890C>A) c.739C>A (p.Leu247Met) c.847C>A (p.Leu283Met) c.802C>A (p.Leu268Met) | |
17 | g.6425697C>A | CA397394653 | AIPL1 | c.918G>T (p.Arg306Ser) c.729G>T (p.Arg243Ser) c.*790G>T (n.*790G>T) c.852G>T (p.Arg284Ser) c.251+8222G>T c.882G>T (p.Arg294Ser) c.*889G>T (n.*889G>T) c.738G>T (p.Arg246Ser) c.846G>T (p.Arg282Ser) c.801G>T (p.Arg267Ser) | |
17 | g.6425697C= | CA2245346963 | AIPL1 | c.918G= (p.Arg306=) c.729G= (p.Arg243=) c.*790G= (n.*790G=) c.852G= (p.Arg284=) c.251+8222G= c.882G= (p.Arg294=) c.*889G= (n.*889G=) c.738G= (p.Arg246=) c.846G= (p.Arg282=) c.801G= (p.Arg267=) | |
17 | g.6425697C>G | CA287323864 | AIPL1 | c.918G>C (p.Arg306Ser) c.729G>C (p.Arg243Ser) c.*790G>C (n.*790G>C) c.852G>C (p.Arg284Ser) c.251+8222G>C c.882G>C (p.Arg294Ser) c.*889G>C (n.*889G>C) c.738G>C (p.Arg246Ser) c.846G>C (p.Arg282Ser) c.801G>C (p.Arg267Ser) | dbSNP |
17 | g.6425697C>T | CA497687393 | AIPL1 | c.918G>A (p.Arg306=) c.729G>A (p.Arg243=) c.*790G>A (n.*790G>A) c.852G>A (p.Arg284=) c.251+8222G>A c.882G>A (p.Arg294=) c.*889G>A (n.*889G>A) c.738G>A (p.Arg246=) c.846G>A (p.Arg282=) c.801G>A (p.Arg267=) | |
17 | g.6425698C>A | CA397394654 | AIPL1 | c.917G>T (p.Arg306Met) c.728G>T (p.Arg243Met) c.*789G>T (n.*789G>T) c.851G>T (p.Arg284Met) c.251+8221G>T c.881G>T (p.Arg294Met) c.*888G>T (n.*888G>T) c.737G>T (p.Arg246Met) c.845G>T (p.Arg282Met) c.800G>T (p.Arg267Met) | |
17 | g.6425698C= | CA2245346965 | AIPL1 | c.917G= (p.Arg306=) c.728G= (p.Arg243=) c.*789G= (n.*789G=) c.851G= (p.Arg284=) c.251+8221G= c.881G= (p.Arg294=) c.*888G= (n.*888G=) c.737G= (p.Arg246=) c.845G= (p.Arg282=) c.800G= (p.Arg267=) | |
17 | g.6425698C>G | CA397394655 | AIPL1 | c.917G>C (p.Arg306Thr) c.728G>C (p.Arg243Thr) c.*789G>C (n.*789G>C) c.851G>C (p.Arg284Thr) c.251+8221G>C c.881G>C (p.Arg294Thr) c.*888G>C (n.*888G>C) c.737G>C (p.Arg246Thr) c.845G>C (p.Arg282Thr) c.800G>C (p.Arg267Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.6425698C>T | CA397394656 | AIPL1 | c.917G>A (p.Arg306Lys) c.728G>A (p.Arg243Lys) c.*789G>A (n.*789G>A) c.851G>A (p.Arg284Lys) c.251+8221G>A c.881G>A (p.Arg294Lys) c.*888G>A (n.*888G>A) c.737G>A (p.Arg246Lys) c.845G>A (p.Arg282Lys) c.800G>A (p.Arg267Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425699T>A | CA397394657 | AIPL1 | c.916A>T (p.Arg306Trp) c.727A>T (p.Arg243Trp) c.*788A>T (n.*788A>T) c.850A>T (p.Arg284Trp) c.251+8220A>T c.880A>T (p.Arg294Trp) c.*887A>T (n.*887A>T) c.736A>T (p.Arg246Trp) c.844A>T (p.Arg282Trp) c.799A>T (p.Arg267Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425699T>C | CA287323866 | AIPL1 | c.916A>G (p.Arg306Gly) c.727A>G (p.Arg243Gly) c.*788A>G (n.*788A>G) c.850A>G (p.Arg284Gly) c.251+8220A>G c.880A>G (p.Arg294Gly) c.*887A>G (n.*887A>G) c.736A>G (p.Arg246Gly) c.844A>G (p.Arg282Gly) c.799A>G (p.Arg267Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425699T>G | CA497687395 | AIPL1 | c.916A>C (p.Arg306=) c.727A>C (p.Arg243=) c.*788A>C (n.*788A>C) c.850A>C (p.Arg284=) c.251+8220A>C c.880A>C (p.Arg294=) c.*887A>C (n.*887A>C) c.736A>C (p.Arg246=) c.844A>C (p.Arg282=) c.799A>C (p.Arg267=) | |
17 | g.6425699T= | CA2245346968 | AIPL1 | c.916A= (p.Arg306=) c.727A= (p.Arg243=) c.*788A= (n.*788A=) c.850A= (p.Arg284=) c.251+8220A= c.880A= (p.Arg294=) c.*887A= (n.*887A=) c.736A= (p.Arg246=) c.844A= (p.Arg282=) c.799A= (p.Arg267=) | |
17 | g.6425700C>A | CA497687396 | AIPL1 | c.915G>T (p.Leu305=) c.726G>T (p.Leu242=) c.*787G>T (n.*787G>T) c.849G>T (p.Leu283=) c.251+8219G>T c.879G>T (p.Leu293=) c.*886G>T (n.*886G>T) c.735G>T (p.Leu245=) c.843G>T (p.Leu281=) c.798G>T (p.Leu266=) | |
17 | g.6425700C= | CA2245346970 | AIPL1 | c.915G= (p.Leu305=) c.726G= (p.Leu242=) c.*787G= (n.*787G=) c.849G= (p.Leu283=) c.251+8219G= c.879G= (p.Leu293=) c.*886G= (n.*886G=) c.735G= (p.Leu245=) c.843G= (p.Leu281=) c.798G= (p.Leu266=) | |
17 | g.6425700C>G | CA8328355 | AIPL1 | c.915G>C (p.Leu305=) c.726G>C (p.Leu242=) c.*787G>C (n.*787G>C) c.849G>C (p.Leu283=) c.251+8219G>C c.879G>C (p.Leu293=) c.*886G>C (n.*886G>C) c.735G>C (p.Leu245=) c.843G>C (p.Leu281=) c.798G>C (p.Leu266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425700C>T | CA497687397 | AIPL1 | c.915G>A (p.Leu305=) c.726G>A (p.Leu242=) c.*787G>A (n.*787G>A) c.849G>A (p.Leu283=) c.251+8219G>A c.879G>A (p.Leu293=) c.*886G>A (n.*886G>A) c.735G>A (p.Leu245=) c.843G>A (p.Leu281=) c.798G>A (p.Leu266=) | |
17 | g.6425701A= | CA2245346972 | AIPL1 | c.914T= (p.Leu305=) c.725T= (p.Leu242=) c.*786T= (n.*786T=) c.848T= (p.Leu283=) c.251+8218T= c.878T= (p.Leu293=) c.*885T= (n.*885T=) c.734T= (p.Leu245=) c.842T= (p.Leu281=) c.797T= (p.Leu266=) | |
17 | g.6425701A>C | CA397394658 | AIPL1 | c.914T>G (p.Leu305Arg) c.725T>G (p.Leu242Arg) c.*786T>G (n.*786T>G) c.848T>G (p.Leu283Arg) c.251+8218T>G c.878T>G (p.Leu293Arg) c.*885T>G (n.*885T>G) c.734T>G (p.Leu245Arg) c.842T>G (p.Leu281Arg) c.797T>G (p.Leu266Arg) | |
17 | g.6425701A>G | CA397394659 | AIPL1 | c.914T>C (p.Leu305Pro) c.725T>C (p.Leu242Pro) c.*786T>C (n.*786T>C) c.848T>C (p.Leu283Pro) c.251+8218T>C c.878T>C (p.Leu293Pro) c.*885T>C (n.*885T>C) c.734T>C (p.Leu245Pro) c.842T>C (p.Leu281Pro) c.797T>C (p.Leu266Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425701A>T | CA397394660 | AIPL1 | c.914T>A (p.Leu305Gln) c.725T>A (p.Leu242Gln) c.*786T>A (n.*786T>A) c.848T>A (p.Leu283Gln) c.251+8218T>A c.878T>A (p.Leu293Gln) c.*885T>A (n.*885T>A) c.734T>A (p.Leu245Gln) c.842T>A (p.Leu281Gln) c.797T>A (p.Leu266Gln) | |
17 | g.6425702G>A | CA497687400 | AIPL1 | c.913C>T (p.Leu305=) c.724C>T (p.Leu242=) c.*785C>T (n.*785C>T) c.847C>T (p.Leu283=) c.251+8217C>T c.877C>T (p.Leu293=) c.*884C>T (n.*884C>T) c.733C>T (p.Leu245=) c.841C>T (p.Leu281=) c.796C>T (p.Leu266=) | dbSNP |
17 | g.6425702G>C | CA397394661 | AIPL1 | c.913C>G (p.Leu305Val) c.724C>G (p.Leu242Val) c.*785C>G (n.*785C>G) c.847C>G (p.Leu283Val) c.251+8217C>G c.877C>G (p.Leu293Val) c.*884C>G (n.*884C>G) c.733C>G (p.Leu245Val) c.841C>G (p.Leu281Val) c.796C>G (p.Leu266Val) | |
17 | g.6425702G= | CA2245346974 | AIPL1 | c.913C= (p.Leu305=) c.724C= (p.Leu242=) c.*785C= (n.*785C=) c.847C= (p.Leu283=) c.251+8217C= c.877C= (p.Leu293=) c.*884C= (n.*884C=) c.733C= (p.Leu245=) c.841C= (p.Leu281=) c.796C= (p.Leu266=) | |
17 | g.6425702G>T | CA397394662 | AIPL1 | c.913C>A (p.Leu305Met) c.724C>A (p.Leu242Met) c.*785C>A (n.*785C>A) c.847C>A (p.Leu283Met) c.251+8217C>A c.877C>A (p.Leu293Met) c.*884C>A (n.*884C>A) c.733C>A (p.Leu245Met) c.841C>A (p.Leu281Met) c.796C>A (p.Leu266Met) | gnomAD v4 |
17 | g.6425703C>A | CA397394663 | AIPL1 | c.912G>T (p.Glu304Asp) c.723G>T (p.Glu241Asp) c.*784G>T (n.*784G>T) c.846G>T (p.Glu282Asp) c.251+8216G>T c.876G>T (p.Glu292Asp) c.*883G>T (n.*883G>T) c.732G>T (p.Glu244Asp) c.840G>T (p.Glu280Asp) c.795G>T (p.Glu265Asp) | |
17 | g.6425703C>G | CA397394664 | AIPL1 | c.912G>C (p.Glu304Asp) c.723G>C (p.Glu241Asp) c.*784G>C (n.*784G>C) c.846G>C (p.Glu282Asp) c.251+8216G>C c.876G>C (p.Glu292Asp) c.*883G>C (n.*883G>C) c.732G>C (p.Glu244Asp) c.840G>C (p.Glu280Asp) c.795G>C (p.Glu265Asp) | |
17 | g.6425703C>T | CA497687401 | AIPL1 | c.912G>A (p.Glu304=) c.723G>A (p.Glu241=) c.*784G>A (n.*784G>A) c.846G>A (p.Glu282=) c.251+8216G>A c.876G>A (p.Glu292=) c.*883G>A (n.*883G>A) c.732G>A (p.Glu244=) c.840G>A (p.Glu280=) c.795G>A (p.Glu265=) | |
17 | g.6425704T>A | CA397394665 | AIPL1 | c.911A>T (p.Glu304Val) c.722A>T (p.Glu241Val) c.*783A>T (n.*783A>T) c.845A>T (p.Glu282Val) c.251+8215A>T c.875A>T (p.Glu292Val) c.*882A>T (n.*882A>T) c.731A>T (p.Glu244Val) c.839A>T (p.Glu280Val) c.794A>T (p.Glu265Val) | gnomAD v4 |
17 | g.6425704T>C | CA397394666 | AIPL1 | c.911A>G (p.Glu304Gly) c.722A>G (p.Glu241Gly) c.*783A>G (n.*783A>G) c.845A>G (p.Glu282Gly) c.251+8215A>G c.875A>G (p.Glu292Gly) c.*882A>G (n.*882A>G) c.731A>G (p.Glu244Gly) c.839A>G (p.Glu280Gly) c.794A>G (p.Glu265Gly) | |
17 | g.6425704T>G | CA397394667 | AIPL1 | c.911A>C (p.Glu304Ala) c.722A>C (p.Glu241Ala) c.*783A>C (n.*783A>C) c.845A>C (p.Glu282Ala) c.251+8215A>C c.875A>C (p.Glu292Ala) c.*882A>C (n.*882A>C) c.731A>C (p.Glu244Ala) c.839A>C (p.Glu280Ala) c.794A>C (p.Glu265Ala) | |
17 | g.6425705C>A | CA8328357 | AIPL1 | c.910G>T (p.Glu304Ter) c.721G>T (p.Glu241Ter) c.*782G>T (n.*782G>T) c.844G>T (p.Glu282Ter) c.251+8214G>T c.874G>T (p.Glu292Ter) c.*881G>T (n.*881G>T) c.730G>T (p.Glu244Ter) c.838G>T (p.Glu280Ter) c.793G>T (p.Glu265Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425705C= | CA2245346976 | AIPL1 | c.910G= (p.Glu304=) c.721G= (p.Glu241=) c.*782G= (n.*782G=) c.844G= (p.Glu282=) c.251+8214G= c.874G= (p.Glu292=) c.*881G= (n.*881G=) c.730G= (p.Glu244=) c.838G= (p.Glu280=) c.793G= (p.Glu265=) | |
17 | g.6425705C>G | CA8328356 | AIPL1 | c.910G>C (p.Glu304Gln) c.721G>C (p.Glu241Gln) c.*782G>C (n.*782G>C) c.844G>C (p.Glu282Gln) c.251+8214G>C c.874G>C (p.Glu292Gln) c.*881G>C (n.*881G>C) c.730G>C (p.Glu244Gln) c.838G>C (p.Glu280Gln) c.793G>C (p.Glu265Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425705C>T | CA397394668 | AIPL1 | c.910G>A (p.Glu304Lys) c.721G>A (p.Glu241Lys) c.*782G>A (n.*782G>A) c.844G>A (p.Glu282Lys) c.251+8214G>A c.874G>A (p.Glu292Lys) c.*881G>A (n.*881G>A) c.730G>A (p.Glu244Lys) c.838G>A (p.Glu280Lys) c.793G>A (p.Glu265Lys) | gnomAD v4 COSMIC |
17 | g.6425707dup | CA2841981217 | AIPL1 | c.910dup (p.Glu304GlyfsTer?) c.721dup (p.Glu241GlyfsTer?) c.*782dup (n.*782dup) c.844dup (p.Glu282GlyfsTer?) c.251+8214dup c.874dup (p.Glu292GlyfsTer?) c.*881dup (n.*881dup) c.730dup (p.Glu244GlyfsTer?) c.838dup (p.Glu280GlyfsTer?) c.793dup (p.Glu265GlyfsTer?) | |
17 | g.6425706C>A | CA397394669 | AIPL1 | c.909G>T (p.Arg303Ser) c.720G>T (p.Arg240Ser) c.*781G>T (n.*781G>T) c.843G>T (p.Arg281Ser) c.251+8213G>T c.873G>T (p.Arg291Ser) c.*880G>T (n.*880G>T) c.729G>T (p.Arg243Ser) c.837G>T (p.Arg279Ser) c.792G>T (p.Arg264Ser) | |
17 | g.6425706C>G | CA397394670 | AIPL1 | c.909G>C (p.Arg303Ser) c.720G>C (p.Arg240Ser) c.*781G>C (n.*781G>C) c.843G>C (p.Arg281Ser) c.251+8213G>C c.873G>C (p.Arg291Ser) c.*880G>C (n.*880G>C) c.729G>C (p.Arg243Ser) c.837G>C (p.Arg279Ser) c.792G>C (p.Arg264Ser) | |
17 | g.6425706C>T | CA497687405 | AIPL1 | c.909G>A (p.Arg303=) c.720G>A (p.Arg240=) c.*781G>A (n.*781G>A) c.843G>A (p.Arg281=) c.251+8213G>A c.873G>A (p.Arg291=) c.*880G>A (n.*880G>A) c.729G>A (p.Arg243=) c.837G>A (p.Arg279=) c.792G>A (p.Arg264=) | gnomAD v4 |
17 | g.6425707C>A | CA397394671 | AIPL1 | c.908G>T (p.Arg303Met) c.719G>T (p.Arg240Met) c.*780G>T (n.*780G>T) c.842G>T (p.Arg281Met) c.251+8212G>T c.872G>T (p.Arg291Met) c.*879G>T (n.*879G>T) c.728G>T (p.Arg243Met) c.836G>T (p.Arg279Met) c.791G>T (p.Arg264Met) | |
17 | g.6425707C= | CA2245346978 | AIPL1 | c.908G= (p.Arg303=) c.719G= (p.Arg240=) c.*780G= (n.*780G=) c.842G= (p.Arg281=) c.251+8212G= c.872G= (p.Arg291=) c.*879G= (n.*879G=) c.728G= (p.Arg243=) c.836G= (p.Arg279=) c.791G= (p.Arg264=) | |
17 | g.6425707C>G | CA397394672 | AIPL1 | c.908G>C (p.Arg303Thr) c.719G>C (p.Arg240Thr) c.*780G>C (n.*780G>C) c.842G>C (p.Arg281Thr) c.251+8212G>C c.872G>C (p.Arg291Thr) c.*879G>C (n.*879G>C) c.728G>C (p.Arg243Thr) c.836G>C (p.Arg279Thr) c.791G>C (p.Arg264Thr) | |
17 | g.6425707C>T | CA8328358 | AIPL1 | c.908G>A (p.Arg303Lys) c.719G>A (p.Arg240Lys) c.*780G>A (n.*780G>A) c.842G>A (p.Arg281Lys) c.251+8212G>A c.872G>A (p.Arg291Lys) c.*879G>A (n.*879G>A) c.728G>A (p.Arg243Lys) c.836G>A (p.Arg279Lys) c.791G>A (p.Arg264Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425708T>A | CA397394673 | AIPL1 | c.907A>T (p.Arg303Trp) c.718A>T (p.Arg240Trp) c.*779A>T (n.*779A>T) c.841A>T (p.Arg281Trp) c.251+8211A>T c.871A>T (p.Arg291Trp) c.*878A>T (n.*878A>T) c.727A>T (p.Arg243Trp) c.835A>T (p.Arg279Trp) c.790A>T (p.Arg264Trp) | |
17 | g.6425708T>C | CA397394674 | AIPL1 | c.907A>G (p.Arg303Gly) c.718A>G (p.Arg240Gly) c.*779A>G (n.*779A>G) c.841A>G (p.Arg281Gly) c.251+8211A>G c.871A>G (p.Arg291Gly) c.*878A>G (n.*878A>G) c.727A>G (p.Arg243Gly) c.835A>G (p.Arg279Gly) c.790A>G (p.Arg264Gly) | |
17 | g.6425708T>G | CA497687407 | AIPL1 | c.907A>C (p.Arg303=) c.718A>C (p.Arg240=) c.*779A>C (n.*779A>C) c.841A>C (p.Arg281=) c.251+8211A>C c.871A>C (p.Arg291=) c.*878A>C (n.*878A>C) c.727A>C (p.Arg243=) c.835A>C (p.Arg279=) c.790A>C (p.Arg264=) | gnomAD v4 |
17 | g.6425709G>A | CA497687410 | AIPL1 | c.906C>T (p.Arg302=) c.717C>T (p.Arg239=) c.*778C>T (n.*778C>T) c.840C>T (p.Arg280=) c.251+8210C>T c.870C>T (p.Arg290=) c.*877C>T (n.*877C>T) c.726C>T (p.Arg242=) c.834C>T (p.Arg278=) c.789C>T (p.Arg263=) | gnomAD v4 |
17 | g.6425709G>C | CA497687412 | AIPL1 | c.906C>G (p.Arg302=) c.717C>G (p.Arg239=) c.*778C>G (n.*778C>G) c.840C>G (p.Arg280=) c.251+8210C>G c.870C>G (p.Arg290=) c.*877C>G (n.*877C>G) c.726C>G (p.Arg242=) c.834C>G (p.Arg278=) c.789C>G (p.Arg263=) | |
17 | g.6425709G>T | CA497687411 | AIPL1 | c.906C>A (p.Arg302=) c.717C>A (p.Arg239=) c.*778C>A (n.*778C>A) c.840C>A (p.Arg280=) c.251+8210C>A c.870C>A (p.Arg290=) c.*877C>A (n.*877C>A) c.726C>A (p.Arg242=) c.834C>A (p.Arg278=) c.789C>A (p.Arg263=) | gnomAD v4 |
17 | g.6425710C>A | CA203310 | AIPL1 | c.905G>T (p.Arg302Leu) c.716G>T (p.Arg239Leu) c.*777G>T (n.*777G>T) c.839G>T (p.Arg280Leu) c.251+8209G>T c.869G>T (p.Arg290Leu) c.*876G>T (n.*876G>T) c.725G>T (p.Arg242Leu) c.833G>T (p.Arg278Leu) c.788G>T (p.Arg263Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425710C= | CA2245346981 | AIPL1 | c.905G= (p.Arg302=) c.716G= (p.Arg239=) c.*777G= (n.*777G=) c.839G= (p.Arg280=) c.251+8209G= c.869G= (p.Arg290=) c.*876G= (n.*876G=) c.725G= (p.Arg242=) c.833G= (p.Arg278=) c.788G= (p.Arg263=) | |
17 | g.6425710C>G | CA397394675 | AIPL1 | c.905G>C (p.Arg302Pro) c.716G>C (p.Arg239Pro) c.*777G>C (n.*777G>C) c.839G>C (p.Arg280Pro) c.251+8209G>C c.869G>C (p.Arg290Pro) c.*876G>C (n.*876G>C) c.725G>C (p.Arg242Pro) c.833G>C (p.Arg278Pro) c.788G>C (p.Arg263Pro) | |
17 | g.6425710C>T | CA8328359 | AIPL1 | c.905G>A (p.Arg302His) c.716G>A (p.Arg239His) c.*777G>A (n.*777G>A) c.839G>A (p.Arg280His) c.251+8209G>A c.869G>A (p.Arg290His) c.*876G>A (n.*876G>A) c.725G>A (p.Arg242His) c.833G>A (p.Arg278His) c.788G>A (p.Arg263His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425711G>A | CA397394676 | AIPL1 | c.904C>T (p.Arg302Cys) c.715C>T (p.Arg239Cys) c.*776C>T (n.*776C>T) c.838C>T (p.Arg280Cys) c.251+8208C>T c.868C>T (p.Arg290Cys) c.*875C>T (n.*875C>T) c.724C>T (p.Arg242Cys) c.832C>T (p.Arg278Cys) c.787C>T (p.Arg263Cys) | dbSNP gnomAD v4 |
17 | g.6425711G>C | CA397394677 | AIPL1 | c.904C>G (p.Arg302Gly) c.715C>G (p.Arg239Gly) c.*776C>G (n.*776C>G) c.838C>G (p.Arg280Gly) c.251+8208C>G c.868C>G (p.Arg290Gly) c.*875C>G (n.*875C>G) c.724C>G (p.Arg242Gly) c.832C>G (p.Arg278Gly) c.787C>G (p.Arg263Gly) | |
17 | g.6425711G>T | CA397394678 | AIPL1 | c.904C>A (p.Arg302Ser) c.715C>A (p.Arg239Ser) c.*776C>A (n.*776C>A) c.838C>A (p.Arg280Ser) c.251+8208C>A c.868C>A (p.Arg290Ser) c.*875C>A (n.*875C>A) c.724C>A (p.Arg242Ser) c.832C>A (p.Arg278Ser) c.787C>A (p.Arg263Ser) | dbSNP gnomAD v4 |
17 | g.6425712C>A | CA497687413 | AIPL1 | c.903G>T (p.Val301=) c.714G>T (p.Val238=) c.*775G>T (n.*775G>T) c.837G>T (p.Val279=) c.251+8207G>T c.867G>T (p.Val289=) c.*874G>T (n.*874G>T) c.723G>T (p.Val241=) c.831G>T (p.Val277=) c.786G>T (p.Val262=) | |
17 | g.6425712C= | CA2245346984 | AIPL1 | c.903G= (p.Val301=) c.714G= (p.Val238=) c.*775G= (n.*775G=) c.837G= (p.Val279=) c.251+8207G= c.867G= (p.Val289=) c.*874G= (n.*874G=) c.723G= (p.Val241=) c.831G= (p.Val277=) c.786G= (p.Val262=) | |
17 | g.6425712C>G | CA497687415 | AIPL1 | c.903G>C (p.Val301=) c.714G>C (p.Val238=) c.*775G>C (n.*775G>C) c.837G>C (p.Val279=) c.251+8207G>C c.867G>C (p.Val289=) c.*874G>C (n.*874G>C) c.723G>C (p.Val241=) c.831G>C (p.Val277=) c.786G>C (p.Val262=) | |
17 | g.6425712C>T | CA8328360 | AIPL1 | c.903G>A (p.Val301=) c.714G>A (p.Val238=) c.*775G>A (n.*775G>A) c.837G>A (p.Val279=) c.251+8207G>A c.867G>A (p.Val289=) c.*874G>A (n.*874G>A) c.723G>A (p.Val241=) c.831G>A (p.Val277=) c.786G>A (p.Val262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425713A>C | CA397394679 | AIPL1 | c.902T>G (p.Val301Gly) c.713T>G (p.Val238Gly) c.*774T>G (n.*774T>G) c.836T>G (p.Val279Gly) c.251+8206T>G c.866T>G (p.Val289Gly) c.*873T>G (n.*873T>G) c.722T>G (p.Val241Gly) c.830T>G (p.Val277Gly) c.785T>G (p.Val262Gly) | |
17 | g.6425713A>G | CA397394680 | AIPL1 | c.902T>C (p.Val301Ala) c.713T>C (p.Val238Ala) c.*774T>C (n.*774T>C) c.836T>C (p.Val279Ala) c.251+8206T>C c.866T>C (p.Val289Ala) c.*873T>C (n.*873T>C) c.722T>C (p.Val241Ala) c.830T>C (p.Val277Ala) c.785T>C (p.Val262Ala) | |
17 | g.6425713A>T | CA397394681 | AIPL1 | c.902T>A (p.Val301Glu) c.713T>A (p.Val238Glu) c.*774T>A (n.*774T>A) c.836T>A (p.Val279Glu) c.251+8206T>A c.866T>A (p.Val289Glu) c.*873T>A (n.*873T>A) c.722T>A (p.Val241Glu) c.830T>A (p.Val277Glu) c.785T>A (p.Val262Glu) | |
17 | g.6425714C>A | CA397394682 | AIPL1 | c.901G>T (p.Val301Leu) c.712G>T (p.Val238Leu) c.*773G>T (n.*773G>T) c.835G>T (p.Val279Leu) c.251+8205G>T c.865G>T (p.Val289Leu) c.*872G>T (n.*872G>T) c.721G>T (p.Val241Leu) c.829G>T (p.Val277Leu) c.784G>T (p.Val262Leu) | COSMIC |
17 | g.6425714C>G | CA397394683 | AIPL1 | c.901G>C (p.Val301Leu) c.712G>C (p.Val238Leu) c.*773G>C (n.*773G>C) c.835G>C (p.Val279Leu) c.251+8205G>C c.865G>C (p.Val289Leu) c.*872G>C (n.*872G>C) c.721G>C (p.Val241Leu) c.829G>C (p.Val277Leu) c.784G>C (p.Val262Leu) | |
17 | g.6425714C>T | CA397394684 | AIPL1 | c.901G>A (p.Val301Met) c.712G>A (p.Val238Met) c.*773G>A (n.*773G>A) c.835G>A (p.Val279Met) c.251+8205G>A c.865G>A (p.Val289Met) c.*872G>A (n.*872G>A) c.721G>A (p.Val241Met) c.829G>A (p.Val277Met) c.784G>A (p.Val262Met) | |
17 | g.6425715C>A | CA497687416 | AIPL1 | c.900G>T (p.Ala300=) c.711G>T (p.Ala237=) c.*772G>T (n.*772G>T) c.834G>T (p.Ala278=) c.251+8204G>T c.864G>T (p.Ala288=) c.*871G>T (n.*871G>T) c.720G>T (p.Ala240=) c.828G>T (p.Ala276=) c.783G>T (p.Ala261=) | gnomAD v4 |
17 | g.6425715C= | CA2245346988 | AIPL1 | c.900G= (p.Ala300=) c.711G= (p.Ala237=) c.*772G= (n.*772G=) c.834G= (p.Ala278=) c.251+8204G= c.864G= (p.Ala288=) c.*871G= (n.*871G=) c.720G= (p.Ala240=) c.828G= (p.Ala276=) c.783G= (p.Ala261=) | |
17 | g.6425715C>G | CA8328362 | AIPL1 | c.900G>C (p.Ala300=) c.711G>C (p.Ala237=) c.*772G>C (n.*772G>C) c.834G>C (p.Ala278=) c.251+8204G>C c.864G>C (p.Ala288=) c.*871G>C (n.*871G>C) c.720G>C (p.Ala240=) c.828G>C (p.Ala276=) c.783G>C (p.Ala261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425715C>T | CA8328361 | AIPL1 | c.900G>A (p.Ala300=) c.711G>A (p.Ala237=) c.*772G>A (n.*772G>A) c.834G>A (p.Ala278=) c.251+8204G>A c.864G>A (p.Ala288=) c.*871G>A (n.*871G>A) c.720G>A (p.Ala240=) c.828G>A (p.Ala276=) c.783G>A (p.Ala261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425716G>A | CA397394687 | AIPL1 | c.899C>T (p.Ala300Val) c.710C>T (p.Ala237Val) c.*771C>T (n.*771C>T) c.833C>T (p.Ala278Val) c.251+8203C>T c.863C>T (p.Ala288Val) c.*870C>T (n.*870C>T) c.719C>T (p.Ala240Val) c.827C>T (p.Ala276Val) c.782C>T (p.Ala261Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425716G>C | CA397394685 | AIPL1 | c.899C>G (p.Ala300Gly) c.710C>G (p.Ala237Gly) c.*771C>G (n.*771C>G) c.833C>G (p.Ala278Gly) c.251+8203C>G c.863C>G (p.Ala288Gly) c.*870C>G (n.*870C>G) c.719C>G (p.Ala240Gly) c.827C>G (p.Ala276Gly) c.782C>G (p.Ala261Gly) | |
17 | g.6425716G= | CA2245346991 | AIPL1 | c.899C= (p.Ala300=) c.710C= (p.Ala237=) c.*771C= (n.*771C=) c.833C= (p.Ala278=) c.251+8203C= c.863C= (p.Ala288=) c.*870C= (n.*870C=) c.719C= (p.Ala240=) c.827C= (p.Ala276=) c.782C= (p.Ala261=) | |
17 | g.6425716G>T | CA397394686 | AIPL1 | c.899C>A (p.Ala300Glu) c.710C>A (p.Ala237Glu) c.*771C>A (n.*771C>A) c.833C>A (p.Ala278Glu) c.251+8203C>A c.863C>A (p.Ala288Glu) c.*870C>A (n.*870C>A) c.719C>A (p.Ala240Glu) c.827C>A (p.Ala276Glu) c.782C>A (p.Ala261Glu) | gnomAD v4 |
17 | g.6425717C>A | CA397394688 | AIPL1 | c.898G>T (p.Ala300Ser) c.709G>T (p.Ala237Ser) c.*770G>T (n.*770G>T) c.832G>T (p.Ala278Ser) c.251+8202G>T c.862G>T (p.Ala288Ser) c.*869G>T (n.*869G>T) c.718G>T (p.Ala240Ser) c.826G>T (p.Ala276Ser) c.781G>T (p.Ala261Ser) | |
17 | g.6425717C>G | CA397394689 | AIPL1 | c.898G>C (p.Ala300Pro) c.709G>C (p.Ala237Pro) c.*770G>C (n.*770G>C) c.832G>C (p.Ala278Pro) c.251+8202G>C c.862G>C (p.Ala288Pro) c.*869G>C (n.*869G>C) c.718G>C (p.Ala240Pro) c.826G>C (p.Ala276Pro) c.781G>C (p.Ala261Pro) | |
17 | g.6425717C>T | CA397394690 | AIPL1 | c.898G>A (p.Ala300Thr) c.709G>A (p.Ala237Thr) c.*770G>A (n.*770G>A) c.832G>A (p.Ala278Thr) c.251+8202G>A c.862G>A (p.Ala288Thr) c.*869G>A (n.*869G>A) c.718G>A (p.Ala240Thr) c.826G>A (p.Ala276Thr) c.781G>A (p.Ala261Thr) | |
17 | g.6425718C>A | CA397394691 | AIPL1 | c.897G>T (p.Lys299Asn) c.708G>T (p.Lys236Asn) c.*769G>T (n.*769G>T) c.831G>T (p.Lys277Asn) c.251+8201G>T c.861G>T (p.Lys287Asn) c.*868G>T (n.*868G>T) c.717G>T (p.Lys239Asn) c.825G>T (p.Lys275Asn) c.780G>T (p.Lys260Asn) | dbSNP |
17 | g.6425718C= | CA2245346993 | AIPL1 | c.897G= (p.Lys299=) c.708G= (p.Lys236=) c.*769G= (n.*769G=) c.831G= (p.Lys277=) c.251+8201G= c.861G= (p.Lys287=) c.*868G= (n.*868G=) c.717G= (p.Lys239=) c.825G= (p.Lys275=) c.780G= (p.Lys260=) | |
17 | g.6425718C>G | CA397394692 | AIPL1 | c.897G>C (p.Lys299Asn) c.708G>C (p.Lys236Asn) c.*769G>C (n.*769G>C) c.831G>C (p.Lys277Asn) c.251+8201G>C c.861G>C (p.Lys287Asn) c.*868G>C (n.*868G>C) c.717G>C (p.Lys239Asn) c.825G>C (p.Lys275Asn) c.780G>C (p.Lys260Asn) | gnomAD v4 |
17 | g.6425718C>T | CA8328363 | AIPL1 | c.897G>A (p.Lys299=) c.708G>A (p.Lys236=) c.*769G>A (n.*769G>A) c.831G>A (p.Lys277=) c.251+8201G>A c.861G>A (p.Lys287=) c.*868G>A (n.*868G>A) c.717G>A (p.Lys239=) c.825G>A (p.Lys275=) c.780G>A (p.Lys260=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425719T>A | CA397394693 | AIPL1 | c.896A>T (p.Lys299Met) c.707A>T (p.Lys236Met) c.*768A>T (n.*768A>T) c.830A>T (p.Lys277Met) c.251+8200A>T c.860A>T (p.Lys287Met) c.*867A>T (n.*867A>T) c.716A>T (p.Lys239Met) c.824A>T (p.Lys275Met) c.779A>T (p.Lys260Met) | |
17 | g.6425719T>C | CA397394694 | AIPL1 | c.896A>G (p.Lys299Arg) c.707A>G (p.Lys236Arg) c.*768A>G (n.*768A>G) c.830A>G (p.Lys277Arg) c.251+8200A>G c.860A>G (p.Lys287Arg) c.*867A>G (n.*867A>G) c.716A>G (p.Lys239Arg) c.824A>G (p.Lys275Arg) c.779A>G (p.Lys260Arg) | |
17 | g.6425719T>G | CA397394695 | AIPL1 | c.896A>C (p.Lys299Thr) c.707A>C (p.Lys236Thr) c.*768A>C (n.*768A>C) c.830A>C (p.Lys277Thr) c.251+8200A>C c.860A>C (p.Lys287Thr) c.*867A>C (n.*867A>C) c.716A>C (p.Lys239Thr) c.824A>C (p.Lys275Thr) c.779A>C (p.Lys260Thr) | |
17 | g.6425720del | CA2841981218 | AIPL1 | c.896del (p.Lys299ArgfsTer7) c.707del (p.Lys236ArgfsTer7) c.*768del (n.*768del) c.830del (p.Lys277ArgfsTer7) c.251+8200del c.860del (p.Lys287ArgfsTer7) c.*867del (n.*867del) c.716del (p.Lys239ArgfsTer7) c.824del (p.Lys275ArgfsTer7) c.779del (p.Lys260ArgfsTer7) | |
17 | g.6425720T>A | CA397394696 | AIPL1 | c.895A>T (p.Lys299Ter) c.706A>T (p.Lys236Ter) c.*767A>T (n.*767A>T) c.829A>T (p.Lys277Ter) c.251+8199A>T c.859A>T (p.Lys287Ter) c.*866A>T (n.*866A>T) c.715A>T (p.Lys239Ter) c.823A>T (p.Lys275Ter) c.778A>T (p.Lys260Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425720T>C | CA397394697 | AIPL1 | c.895A>G (p.Lys299Glu) c.706A>G (p.Lys236Glu) c.*767A>G (n.*767A>G) c.829A>G (p.Lys277Glu) c.251+8199A>G c.859A>G (p.Lys287Glu) c.*866A>G (n.*866A>G) c.715A>G (p.Lys239Glu) c.823A>G (p.Lys275Glu) c.778A>G (p.Lys260Glu) | gnomAD v4 |
17 | g.6425720T>G | CA397394698 | AIPL1 | c.895A>C (p.Lys299Gln) c.706A>C (p.Lys236Gln) c.*767A>C (n.*767A>C) c.829A>C (p.Lys277Gln) c.251+8199A>C c.859A>C (p.Lys287Gln) c.*866A>C (n.*866A>C) c.715A>C (p.Lys239Gln) c.823A>C (p.Lys275Gln) c.778A>C (p.Lys260Gln) | |
17 | g.6425720T= | CA2245346995 | AIPL1 | c.895A= (p.Lys299=) c.706A= (p.Lys236=) c.*767A= (n.*767A=) c.829A= (p.Lys277=) c.251+8199A= c.859A= (p.Lys287=) c.*866A= (n.*866A=) c.715A= (p.Lys239=) c.823A= (p.Lys275=) c.778A= (p.Lys260=) | |
17 | g.6425721C>A | CA397394699 | AIPL1 | c.894G>T (p.Gln298His) c.705G>T (p.Gln235His) c.*766G>T (n.*766G>T) c.828G>T (p.Gln276His) c.251+8198G>T c.858G>T (p.Gln286His) c.*865G>T (n.*865G>T) c.714G>T (p.Gln238His) c.822G>T (p.Gln274His) c.777G>T (p.Gln259His) | |
17 | g.6425721C>G | CA397394700 | AIPL1 | c.894G>C (p.Gln298His) c.705G>C (p.Gln235His) c.*766G>C (n.*766G>C) c.828G>C (p.Gln276His) c.251+8198G>C c.858G>C (p.Gln286His) c.*865G>C (n.*865G>C) c.714G>C (p.Gln238His) c.822G>C (p.Gln274His) c.777G>C (p.Gln259His) | |
17 | g.6425721C>T | CA497687419 | AIPL1 | c.894G>A (p.Gln298=) c.705G>A (p.Gln235=) c.*766G>A (n.*766G>A) c.828G>A (p.Gln276=) c.251+8198G>A c.858G>A (p.Gln286=) c.*865G>A (n.*865G>A) c.714G>A (p.Gln238=) c.822G>A (p.Gln274=) c.777G>A (p.Gln259=) | gnomAD v4 |
17 | g.6425722T>A | CA397394701 | AIPL1 | c.893A>T (p.Gln298Leu) c.704A>T (p.Gln235Leu) c.*765A>T (n.*765A>T) c.827A>T (p.Gln276Leu) c.251+8197A>T c.857A>T (p.Gln286Leu) c.*864A>T (n.*864A>T) c.713A>T (p.Gln238Leu) c.821A>T (p.Gln274Leu) c.776A>T (p.Gln259Leu) | |
17 | g.6425722T>C | CA397394703 | AIPL1 | c.893A>G (p.Gln298Arg) c.704A>G (p.Gln235Arg) c.*765A>G (n.*765A>G) c.827A>G (p.Gln276Arg) c.251+8197A>G c.857A>G (p.Gln286Arg) c.*864A>G (n.*864A>G) c.713A>G (p.Gln238Arg) c.821A>G (p.Gln274Arg) c.776A>G (p.Gln259Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425722T>G | CA397394702 | AIPL1 | c.893A>C (p.Gln298Pro) c.704A>C (p.Gln235Pro) c.*765A>C (n.*765A>C) c.827A>C (p.Gln276Pro) c.251+8197A>C c.857A>C (p.Gln286Pro) c.*864A>C (n.*864A>C) c.713A>C (p.Gln238Pro) c.821A>C (p.Gln274Pro) c.776A>C (p.Gln259Pro) | dbSNP gnomAD v4 |
17 | g.6425722T= | CA2245346997 | AIPL1 | c.893A= (p.Gln298=) c.704A= (p.Gln235=) c.*765A= (n.*765A=) c.827A= (p.Gln276=) c.251+8197A= c.857A= (p.Gln286=) c.*864A= (n.*864A=) c.713A= (p.Gln238=) c.821A= (p.Gln274=) c.776A= (p.Gln259=) | |
17 | g.6425723G>A | CA397394704 | AIPL1 | c.892C>T (p.Gln298Ter) c.703C>T (p.Gln235Ter) c.*764C>T (n.*764C>T) c.826C>T (p.Gln276Ter) c.251+8196C>T c.856C>T (p.Gln286Ter) c.*863C>T (n.*863C>T) c.712C>T (p.Gln238Ter) c.820C>T (p.Gln274Ter) c.775C>T (p.Gln259Ter) | gnomAD v4 |
17 | g.6425723G>C | CA397394706 | AIPL1 | c.892C>G (p.Gln298Glu) c.703C>G (p.Gln235Glu) c.*764C>G (n.*764C>G) c.826C>G (p.Gln276Glu) c.251+8196C>G c.856C>G (p.Gln286Glu) c.*863C>G (n.*863C>G) c.712C>G (p.Gln238Glu) c.820C>G (p.Gln274Glu) c.775C>G (p.Gln259Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425723G= | CA2245347000 | AIPL1 | c.892C= (p.Gln298=) c.703C= (p.Gln235=) c.*764C= (n.*764C=) c.826C= (p.Gln276=) c.251+8196C= c.856C= (p.Gln286=) c.*863C= (n.*863C=) c.712C= (p.Gln238=) c.820C= (p.Gln274=) c.775C= (p.Gln259=) | |
17 | g.6425723G>T | CA397394705 | AIPL1 | c.892C>A (p.Gln298Lys) c.703C>A (p.Gln235Lys) c.*764C>A (n.*764C>A) c.826C>A (p.Gln276Lys) c.251+8196C>A c.856C>A (p.Gln286Lys) c.*863C>A (n.*863C>A) c.712C>A (p.Gln238Lys) c.820C>A (p.Gln274Lys) c.775C>A (p.Gln259Lys) | dbSNP gnomAD v4 |
17 | g.6425724C>A | CA397394707 | AIPL1 | c.891G>T (p.Met297Ile) c.702G>T (p.Met234Ile) c.*763G>T (n.*763G>T) c.825G>T (p.Met275Ile) c.251+8195G>T c.855G>T (p.Met285Ile) c.*862G>T (n.*862G>T) c.711G>T (p.Met237Ile) c.819G>T (p.Met273Ile) c.774G>T (p.Met258Ile) | gnomAD v4 |
17 | g.6425724C>G | CA397394709 | AIPL1 | c.891G>C (p.Met297Ile) c.702G>C (p.Met234Ile) c.*763G>C (n.*763G>C) c.825G>C (p.Met275Ile) c.251+8195G>C c.855G>C (p.Met285Ile) c.*862G>C (n.*862G>C) c.711G>C (p.Met237Ile) c.819G>C (p.Met273Ile) c.774G>C (p.Met258Ile) | |
17 | g.6425724C>T | CA397394708 | AIPL1 | c.891G>A (p.Met297Ile) c.702G>A (p.Met234Ile) c.*763G>A (n.*763G>A) c.825G>A (p.Met275Ile) c.251+8195G>A c.855G>A (p.Met285Ile) c.*862G>A (n.*862G>A) c.711G>A (p.Met237Ile) c.819G>A (p.Met273Ile) c.774G>A (p.Met258Ile) | |
17 | g.6425725A>C | CA397394710 | AIPL1 | c.890T>G (p.Met297Arg) c.701T>G (p.Met234Arg) c.*762T>G (n.*762T>G) c.824T>G (p.Met275Arg) c.251+8194T>G c.854T>G (p.Met285Arg) c.*861T>G (n.*861T>G) c.710T>G (p.Met237Arg) c.818T>G (p.Met273Arg) c.773T>G (p.Met258Arg) | |
17 | g.6425725A>G | CA397394712 | AIPL1 | c.890T>C (p.Met297Thr) c.701T>C (p.Met234Thr) c.*762T>C (n.*762T>C) c.824T>C (p.Met275Thr) c.251+8194T>C c.854T>C (p.Met285Thr) c.*861T>C (n.*861T>C) c.710T>C (p.Met237Thr) c.818T>C (p.Met273Thr) c.773T>C (p.Met258Thr) | |
17 | g.6425725A>T | CA397394711 | AIPL1 | c.890T>A (p.Met297Lys) c.701T>A (p.Met234Lys) c.*762T>A (n.*762T>A) c.824T>A (p.Met275Lys) c.251+8194T>A c.854T>A (p.Met285Lys) c.*861T>A (n.*861T>A) c.710T>A (p.Met237Lys) c.818T>A (p.Met273Lys) c.773T>A (p.Met258Lys) | |
17 | g.6425726T>A | CA397394713 | AIPL1 | c.889A>T (p.Met297Leu) c.700A>T (p.Met234Leu) c.*761A>T (n.*761A>T) c.823A>T (p.Met275Leu) c.251+8193A>T c.853A>T (p.Met285Leu) c.*860A>T (n.*860A>T) c.709A>T (p.Met237Leu) c.817A>T (p.Met273Leu) c.772A>T (p.Met258Leu) | |
17 | g.6425726T>C | CA397394714 | AIPL1 | c.889A>G (p.Met297Val) c.700A>G (p.Met234Val) c.*761A>G (n.*761A>G) c.823A>G (p.Met275Val) c.251+8193A>G c.853A>G (p.Met285Val) c.*860A>G (n.*860A>G) c.709A>G (p.Met237Val) c.817A>G (p.Met273Val) c.772A>G (p.Met258Val) | dbSNP gnomAD v4 |
17 | g.6425726T>G | CA397394715 | AIPL1 | c.889A>C (p.Met297Leu) c.700A>C (p.Met234Leu) c.*761A>C (n.*761A>C) c.823A>C (p.Met275Leu) c.251+8193A>C c.853A>C (p.Met285Leu) c.*860A>C (n.*860A>C) c.709A>C (p.Met237Leu) c.817A>C (p.Met273Leu) c.772A>C (p.Met258Leu) | |
17 | g.6425726T= | CA2245347002 | AIPL1 | c.889A= (p.Met297=) c.700A= (p.Met234=) c.*761A= (n.*761A=) c.823A= (p.Met275=) c.251+8193A= c.853A= (p.Met285=) c.*860A= (n.*860A=) c.709A= (p.Met237=) c.817A= (p.Met273=) c.772A= (p.Met258=) | |
17 | g.6425727G>A | CA497687420 | AIPL1 | c.888C>T (p.Ser296=) c.699C>T (p.Ser233=) c.*760C>T (n.*760C>T) c.822C>T (p.Ser274=) c.251+8192C>T c.852C>T (p.Ser284=) c.*859C>T (n.*859C>T) c.708C>T (p.Ser236=) c.816C>T (p.Ser272=) c.771C>T (p.Ser257=) | gnomAD v4 |
17 | g.6425727G>C | CA497687421 | AIPL1 | c.888C>G (p.Ser296=) c.699C>G (p.Ser233=) c.*760C>G (n.*760C>G) c.822C>G (p.Ser274=) c.251+8192C>G c.852C>G (p.Ser284=) c.*859C>G (n.*859C>G) c.708C>G (p.Ser236=) c.816C>G (p.Ser272=) c.771C>G (p.Ser257=) | |
17 | g.6425727G>T | CA497687422 | AIPL1 | c.888C>A (p.Ser296=) c.699C>A (p.Ser233=) c.*760C>A (n.*760C>A) c.822C>A (p.Ser274=) c.251+8192C>A c.852C>A (p.Ser284=) c.*859C>A (n.*859C>A) c.708C>A (p.Ser236=) c.816C>A (p.Ser272=) c.771C>A (p.Ser257=) | |
17 | g.6425728G>A | CA397394716 | AIPL1 | c.887C>T (p.Ser296Phe) c.698C>T (p.Ser233Phe) c.*759C>T (n.*759C>T) c.821C>T (p.Ser274Phe) c.251+8191C>T c.851C>T (p.Ser284Phe) c.*858C>T (n.*858C>T) c.707C>T (p.Ser236Phe) c.815C>T (p.Ser272Phe) c.770C>T (p.Ser257Phe) | gnomAD v4 |
17 | g.6425728G>C | CA397394717 | AIPL1 | c.887C>G (p.Ser296Cys) c.698C>G (p.Ser233Cys) c.*759C>G (n.*759C>G) c.821C>G (p.Ser274Cys) c.251+8191C>G c.851C>G (p.Ser284Cys) c.*858C>G (n.*858C>G) c.707C>G (p.Ser236Cys) c.815C>G (p.Ser272Cys) c.770C>G (p.Ser257Cys) | |
17 | g.6425728G>T | CA397394718 | AIPL1 | c.887C>A (p.Ser296Tyr) c.698C>A (p.Ser233Tyr) c.*759C>A (n.*759C>A) c.821C>A (p.Ser274Tyr) c.251+8191C>A c.851C>A (p.Ser284Tyr) c.*858C>A (n.*858C>A) c.707C>A (p.Ser236Tyr) c.815C>A (p.Ser272Tyr) c.770C>A (p.Ser257Tyr) | gnomAD v4 |
17 | g.6425729A= | CA2245347004 | AIPL1 | c.886T= (p.Ser296=) c.697T= (p.Ser233=) c.*758T= (n.*758T=) c.820T= (p.Ser274=) c.251+8190T= c.850T= (p.Ser284=) c.*857T= (n.*857T=) c.706T= (p.Ser236=) c.814T= (p.Ser272=) c.769T= (p.Ser257=) | |
17 | g.6425729A>C | CA397394719 | AIPL1 | c.886T>G (p.Ser296Ala) c.697T>G (p.Ser233Ala) c.*758T>G (n.*758T>G) c.820T>G (p.Ser274Ala) c.251+8190T>G c.850T>G (p.Ser284Ala) c.*857T>G (n.*857T>G) c.706T>G (p.Ser236Ala) c.814T>G (p.Ser272Ala) c.769T>G (p.Ser257Ala) | |
17 | g.6425729A>G | CA397394720 | AIPL1 | c.886T>C (p.Ser296Pro) c.697T>C (p.Ser233Pro) c.*758T>C (n.*758T>C) c.820T>C (p.Ser274Pro) c.251+8190T>C c.850T>C (p.Ser284Pro) c.*857T>C (n.*857T>C) c.706T>C (p.Ser236Pro) c.814T>C (p.Ser272Pro) c.769T>C (p.Ser257Pro) | |
17 | g.6425729A>T | CA397394721 | AIPL1 | c.886T>A (p.Ser296Thr) c.697T>A (p.Ser233Thr) c.*758T>A (n.*758T>A) c.820T>A (p.Ser274Thr) c.251+8190T>A c.850T>A (p.Ser284Thr) c.*857T>A (n.*857T>A) c.706T>A (p.Ser236Thr) c.814T>A (p.Ser272Thr) c.769T>A (p.Ser257Thr) | dbSNP |
17 | g.6425730del | CA2695224200 | AIPL1 | c.885del (p.Ser296ProfsTer10) c.696del (p.Ser233ProfsTer10) c.*757del (n.*757del) c.819del (p.Ser274ProfsTer10) c.251+8189del c.849del (p.Ser284ProfsTer10) c.*856del (n.*856del) c.705del (p.Ser236ProfsTer10) c.813del (p.Ser272ProfsTer10) c.768del (p.Ser257ProfsTer10) | |
17 | g.6425730C>A | CA497687425 | AIPL1 | c.885G>T (p.Pro295=) c.696G>T (p.Pro232=) c.*757G>T (n.*757G>T) c.819G>T (p.Pro273=) c.251+8189G>T c.849G>T (p.Pro283=) c.*856G>T (n.*856G>T) c.705G>T (p.Pro235=) c.813G>T (p.Pro271=) c.768G>T (p.Pro256=) | |
17 | g.6425730C= | CA2245347006 | AIPL1 | c.885G= (p.Pro295=) c.696G= (p.Pro232=) c.*757G= (n.*757G=) c.819G= (p.Pro273=) c.251+8189G= c.849G= (p.Pro283=) c.*856G= (n.*856G=) c.705G= (p.Pro235=) c.813G= (p.Pro271=) c.768G= (p.Pro256=) | |
17 | g.6425730C>G | CA497687424 | AIPL1 | c.885G>C (p.Pro295=) c.696G>C (p.Pro232=) c.*757G>C (n.*757G>C) c.819G>C (p.Pro273=) c.251+8189G>C c.849G>C (p.Pro283=) c.*856G>C (n.*856G>C) c.705G>C (p.Pro235=) c.813G>C (p.Pro271=) c.768G>C (p.Pro256=) | |
17 | g.6425730C>T | CA497687423 | AIPL1 | c.885G>A (p.Pro295=) c.696G>A (p.Pro232=) c.*757G>A (n.*757G>A) c.819G>A (p.Pro273=) c.251+8189G>A c.849G>A (p.Pro283=) c.*856G>A (n.*856G>A) c.705G>A (p.Pro235=) c.813G>A (p.Pro271=) c.768G>A (p.Pro256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425731G>A | CA397394722 | AIPL1 | c.884C>T (p.Pro295Leu) c.695C>T (p.Pro232Leu) c.*756C>T (n.*756C>T) c.818C>T (p.Pro273Leu) c.251+8188C>T c.848C>T (p.Pro283Leu) c.*855C>T (n.*855C>T) c.704C>T (p.Pro235Leu) c.812C>T (p.Pro271Leu) c.767C>T (p.Pro256Leu) | ClinVar gnomAD v4 |
17 | g.6425731G>C | CA397394723 | AIPL1 | c.884C>G (p.Pro295Arg) c.695C>G (p.Pro232Arg) c.*756C>G (n.*756C>G) c.818C>G (p.Pro273Arg) c.251+8188C>G c.848C>G (p.Pro283Arg) c.*855C>G (n.*855C>G) c.704C>G (p.Pro235Arg) c.812C>G (p.Pro271Arg) c.767C>G (p.Pro256Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.6425731G= | CA2245347007 | AIPL1 | c.884C= (p.Pro295=) c.695C= (p.Pro232=) c.*756C= (n.*756C=) c.818C= (p.Pro273=) c.251+8188C= c.848C= (p.Pro283=) c.*855C= (n.*855C=) c.704C= (p.Pro235=) c.812C= (p.Pro271=) c.767C= (p.Pro256=) | |
17 | g.6425731G>T | CA397394724 | AIPL1 | c.884C>A (p.Pro295Gln) c.695C>A (p.Pro232Gln) c.*756C>A (n.*756C>A) c.818C>A (p.Pro273Gln) c.251+8188C>A c.848C>A (p.Pro283Gln) c.*855C>A (n.*855C>A) c.704C>A (p.Pro235Gln) c.812C>A (p.Pro271Gln) c.767C>A (p.Pro256Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425732G>A | CA397394725 | AIPL1 | c.883C>T (p.Pro295Ser) c.694C>T (p.Pro232Ser) c.*755C>T (n.*755C>T) c.817C>T (p.Pro273Ser) c.251+8187C>T c.847C>T (p.Pro283Ser) c.*854C>T (n.*854C>T) c.703C>T (p.Pro235Ser) c.811C>T (p.Pro271Ser) c.766C>T (p.Pro256Ser) | gnomAD v4 COSMIC |
17 | g.6425732G>C | CA287323880 | AIPL1 | c.883C>G (p.Pro295Ala) c.694C>G (p.Pro232Ala) c.*755C>G (n.*755C>G) c.817C>G (p.Pro273Ala) c.251+8187C>G c.847C>G (p.Pro283Ala) c.*854C>G (n.*854C>G) c.703C>G (p.Pro235Ala) c.811C>G (p.Pro271Ala) c.766C>G (p.Pro256Ala) | dbSNP |
17 | g.6425732G= | CA2245347009 | AIPL1 | c.883C= (p.Pro295=) c.694C= (p.Pro232=) c.*755C= (n.*755C=) c.817C= (p.Pro273=) c.251+8187C= c.847C= (p.Pro283=) c.*854C= (n.*854C=) c.703C= (p.Pro235=) c.811C= (p.Pro271=) c.766C= (p.Pro256=) | |
17 | g.6425732G>T | CA397394726 | AIPL1 | c.883C>A (p.Pro295Thr) c.694C>A (p.Pro232Thr) c.*755C>A (n.*755C>A) c.817C>A (p.Pro273Thr) c.251+8187C>A c.847C>A (p.Pro283Thr) c.*854C>A (n.*854C>A) c.703C>A (p.Pro235Thr) c.811C>A (p.Pro271Thr) c.766C>A (p.Pro256Thr) | gnomAD v4 |
17 | g.6425733C>A | CA397394727 | AIPL1 | c.882G>T (p.Glu294Asp) c.693G>T (p.Glu231Asp) c.*754G>T (n.*754G>T) c.816G>T (p.Glu272Asp) c.251+8186G>T c.846G>T (p.Glu282Asp) c.*853G>T (n.*853G>T) c.702G>T (p.Glu234Asp) c.810G>T (p.Glu270Asp) c.765G>T (p.Glu255Asp) | |
17 | g.6425733C>G | CA397394728 | AIPL1 | c.882G>C (p.Glu294Asp) c.693G>C (p.Glu231Asp) c.*754G>C (n.*754G>C) c.816G>C (p.Glu272Asp) c.251+8186G>C c.846G>C (p.Glu282Asp) c.*853G>C (n.*853G>C) c.702G>C (p.Glu234Asp) c.810G>C (p.Glu270Asp) c.765G>C (p.Glu255Asp) | |
17 | g.6425733C>T | CA497687426 | AIPL1 | c.882G>A (p.Glu294=) c.693G>A (p.Glu231=) c.*754G>A (n.*754G>A) c.816G>A (p.Glu272=) c.251+8186G>A c.846G>A (p.Glu282=) c.*853G>A (n.*853G>A) c.702G>A (p.Glu234=) c.810G>A (p.Glu270=) c.765G>A (p.Glu255=) | ClinVar dbSNP |
17 | g.6425734T>A | CA397394729 | AIPL1 | c.881A>T (p.Glu294Val) c.692A>T (p.Glu231Val) c.*753A>T (n.*753A>T) c.815A>T (p.Glu272Val) c.251+8185A>T c.845A>T (p.Glu282Val) c.*852A>T (n.*852A>T) c.701A>T (p.Glu234Val) c.809A>T (p.Glu270Val) c.764A>T (p.Glu255Val) | |
17 | g.6425734T>C | CA397394730 | AIPL1 | c.881A>G (p.Glu294Gly) c.692A>G (p.Glu231Gly) c.*753A>G (n.*753A>G) c.815A>G (p.Glu272Gly) c.251+8185A>G c.845A>G (p.Glu282Gly) c.*852A>G (n.*852A>G) c.701A>G (p.Glu234Gly) c.809A>G (p.Glu270Gly) c.764A>G (p.Glu255Gly) | |
17 | g.6425734T>G | CA397394731 | AIPL1 | c.881A>C (p.Glu294Ala) c.692A>C (p.Glu231Ala) c.*753A>C (n.*753A>C) c.815A>C (p.Glu272Ala) c.251+8185A>C c.845A>C (p.Glu282Ala) c.*852A>C (n.*852A>C) c.701A>C (p.Glu234Ala) c.809A>C (p.Glu270Ala) c.764A>C (p.Glu255Ala) | |
17 | g.6425735C>A | CA397394732 | AIPL1 | c.880G>T (p.Glu294Ter) c.691G>T (p.Glu231Ter) c.*752G>T (n.*752G>T) c.814G>T (p.Glu272Ter) c.251+8184G>T c.844G>T (p.Glu282Ter) c.*851G>T (n.*851G>T) c.700G>T (p.Glu234Ter) c.808G>T (p.Glu270Ter) c.763G>T (p.Glu255Ter) | |
17 | g.6425735C= | CA2245347012 | AIPL1 | c.880G= (p.Glu294=) c.691G= (p.Glu231=) c.*752G= (n.*752G=) c.814G= (p.Glu272=) c.251+8184G= c.844G= (p.Glu282=) c.*851G= (n.*851G=) c.700G= (p.Glu234=) c.808G= (p.Glu270=) c.763G= (p.Glu255=) | |
17 | g.6425735C>G | CA233459 | AIPL1 | c.880G>C (p.Glu294Gln) c.691G>C (p.Glu231Gln) c.*752G>C (n.*752G>C) c.814G>C (p.Glu272Gln) c.251+8184G>C c.844G>C (p.Glu282Gln) c.*851G>C (n.*851G>C) c.700G>C (p.Glu234Gln) c.808G>C (p.Glu270Gln) c.763G>C (p.Glu255Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425735C>T | CA397394733 | AIPL1 | c.880G>A (p.Glu294Lys) c.691G>A (p.Glu231Lys) c.*752G>A (n.*752G>A) c.814G>A (p.Glu272Lys) c.251+8184G>A c.844G>A (p.Glu282Lys) c.*851G>A (n.*851G>A) c.700G>A (p.Glu234Lys) c.808G>A (p.Glu270Lys) c.763G>A (p.Glu255Lys) | |
17 | g.6425736C>A | CA497687427 | AIPL1 | c.879G>T (p.Leu293=) c.690G>T (p.Leu230=) c.*751G>T (n.*751G>T) c.813G>T (p.Leu271=) c.251+8183G>T c.843G>T (p.Leu281=) c.*850G>T (n.*850G>T) c.699G>T (p.Leu233=) c.807G>T (p.Leu269=) c.762G>T (p.Leu254=) | |
17 | g.6425736C= | CA2245347014 | AIPL1 | c.879G= (p.Leu293=) c.690G= (p.Leu230=) c.*751G= (n.*751G=) c.813G= (p.Leu271=) c.251+8183G= c.843G= (p.Leu281=) c.*850G= (n.*850G=) c.699G= (p.Leu233=) c.807G= (p.Leu269=) c.762G= (p.Leu254=) | |
17 | g.6425736C>G | CA497687428 | AIPL1 | c.879G>C (p.Leu293=) c.690G>C (p.Leu230=) c.*751G>C (n.*751G>C) c.813G>C (p.Leu271=) c.251+8183G>C c.843G>C (p.Leu281=) c.*850G>C (n.*850G>C) c.699G>C (p.Leu233=) c.807G>C (p.Leu269=) c.762G>C (p.Leu254=) | |
17 | g.6425736C>T | CA287323886 | AIPL1 | c.879G>A (p.Leu293=) c.690G>A (p.Leu230=) c.*751G>A (n.*751G>A) c.813G>A (p.Leu271=) c.251+8183G>A c.843G>A (p.Leu281=) c.*850G>A (n.*850G>A) c.699G>A (p.Leu233=) c.807G>A (p.Leu269=) c.762G>A (p.Leu254=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425737A>C | CA397394736 | AIPL1 | c.878T>G (p.Leu293Arg) c.689T>G (p.Leu230Arg) c.*750T>G (n.*750T>G) c.812T>G (p.Leu271Arg) c.251+8182T>G c.842T>G (p.Leu281Arg) c.*849T>G (n.*849T>G) c.698T>G (p.Leu233Arg) c.806T>G (p.Leu269Arg) c.761T>G (p.Leu254Arg) | |
17 | g.6425737A>G | CA397394735 | AIPL1 | c.878T>C (p.Leu293Pro) c.689T>C (p.Leu230Pro) c.*750T>C (n.*750T>C) c.812T>C (p.Leu271Pro) c.251+8182T>C c.842T>C (p.Leu281Pro) c.*849T>C (n.*849T>C) c.698T>C (p.Leu233Pro) c.806T>C (p.Leu269Pro) c.761T>C (p.Leu254Pro) | gnomAD v4 |
17 | g.6425737A>T | CA397394734 | AIPL1 | c.878T>A (p.Leu293Gln) c.689T>A (p.Leu230Gln) c.*750T>A (n.*750T>A) c.812T>A (p.Leu271Gln) c.251+8182T>A c.842T>A (p.Leu281Gln) c.*849T>A (n.*849T>A) c.698T>A (p.Leu233Gln) c.806T>A (p.Leu269Gln) c.761T>A (p.Leu254Gln) | gnomAD v4 |
17 | g.6425738G>A | CA287323888 | AIPL1 | c.877C>T (p.Leu293=) c.688C>T (p.Leu230=) c.*749C>T (n.*749C>T) c.811C>T (p.Leu271=) c.251+8181C>T c.841C>T (p.Leu281=) c.*848C>T (n.*848C>T) c.697C>T (p.Leu233=) c.805C>T (p.Leu269=) c.760C>T (p.Leu254=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425738G>C | CA397394737 | AIPL1 | c.877C>G (p.Leu293Val) c.688C>G (p.Leu230Val) c.*749C>G (n.*749C>G) c.811C>G (p.Leu271Val) c.251+8181C>G c.841C>G (p.Leu281Val) c.*848C>G (n.*848C>G) c.697C>G (p.Leu233Val) c.805C>G (p.Leu269Val) c.760C>G (p.Leu254Val) | gnomAD v4 |
17 | g.6425738G= | CA2245347016 | AIPL1 | c.877C= (p.Leu293=) c.688C= (p.Leu230=) c.*749C= (n.*749C=) c.811C= (p.Leu271=) c.251+8181C= c.841C= (p.Leu281=) c.*848C= (n.*848C=) c.697C= (p.Leu233=) c.805C= (p.Leu269=) c.760C= (p.Leu254=) | |
17 | g.6425738G>T | CA397394738 | AIPL1 | c.877C>A (p.Leu293Met) c.688C>A (p.Leu230Met) c.*749C>A (n.*749C>A) c.811C>A (p.Leu271Met) c.251+8181C>A c.841C>A (p.Leu281Met) c.*848C>A (n.*848C>A) c.697C>A (p.Leu233Met) c.805C>A (p.Leu269Met) c.760C>A (p.Leu254Met) | gnomAD v4 |
17 | g.6425739C>A | CA397394739 | AIPL1 | c.876G>T (p.Glu292Asp) c.687G>T (p.Glu229Asp) c.*748G>T (n.*748G>T) c.810G>T (p.Glu270Asp) c.251+8180G>T c.840G>T (p.Glu280Asp) c.*847G>T (n.*847G>T) c.696G>T (p.Glu232Asp) c.804G>T (p.Glu268Asp) c.759G>T (p.Glu253Asp) | |
17 | g.6425739C= | CA2245347018 | AIPL1 | c.876G= (p.Glu292=) c.687G= (p.Glu229=) c.*748G= (n.*748G=) c.810G= (p.Glu270=) c.251+8180G= c.840G= (p.Glu280=) c.*847G= (n.*847G=) c.696G= (p.Glu232=) c.804G= (p.Glu268=) c.759G= (p.Glu253=) | |
17 | g.6425739C>G | CA397394740 | AIPL1 | c.876G>C (p.Glu292Asp) c.687G>C (p.Glu229Asp) c.*748G>C (n.*748G>C) c.810G>C (p.Glu270Asp) c.251+8180G>C c.840G>C (p.Glu280Asp) c.*847G>C (n.*847G>C) c.696G>C (p.Glu232Asp) c.804G>C (p.Glu268Asp) c.759G>C (p.Glu253Asp) | dbSNP |
17 | g.6425739C>T | CA497687429 | AIPL1 | c.876G>A (p.Glu292=) c.687G>A (p.Glu229=) c.*748G>A (n.*748G>A) c.810G>A (p.Glu270=) c.251+8180G>A c.840G>A (p.Glu280=) c.*847G>A (n.*847G>A) c.696G>A (p.Glu232=) c.804G>A (p.Glu268=) c.759G>A (p.Glu253=) | |
17 | g.6425740T>A | CA397394741 | AIPL1 | c.875A>T (p.Glu292Val) c.686A>T (p.Glu229Val) c.*747A>T (n.*747A>T) c.809A>T (p.Glu270Val) c.251+8179A>T c.839A>T (p.Glu280Val) c.*846A>T (n.*846A>T) c.695A>T (p.Glu232Val) c.803A>T (p.Glu268Val) c.758A>T (p.Glu253Val) | |
17 | g.6425740T>C | CA397394742 | AIPL1 | c.875A>G (p.Glu292Gly) c.686A>G (p.Glu229Gly) c.*747A>G (n.*747A>G) c.809A>G (p.Glu270Gly) c.251+8179A>G c.839A>G (p.Glu280Gly) c.*846A>G (n.*846A>G) c.695A>G (p.Glu232Gly) c.803A>G (p.Glu268Gly) c.758A>G (p.Glu253Gly) | gnomAD v4 |
17 | g.6425740T>G | CA397394743 | AIPL1 | c.875A>C (p.Glu292Ala) c.686A>C (p.Glu229Ala) c.*747A>C (n.*747A>C) c.809A>C (p.Glu270Ala) c.251+8179A>C c.839A>C (p.Glu280Ala) c.*846A>C (n.*846A>C) c.695A>C (p.Glu232Ala) c.803A>C (p.Glu268Ala) c.758A>C (p.Glu253Ala) | |
17 | g.6425741C>A | CA397394744 | AIPL1 | c.874G>T (p.Glu292Ter) c.685G>T (p.Glu229Ter) c.*746G>T (n.*746G>T) c.808G>T (p.Glu270Ter) c.251+8178G>T c.838G>T (p.Glu280Ter) c.*845G>T (n.*845G>T) c.694G>T (p.Glu232Ter) c.802G>T (p.Glu268Ter) c.757G>T (p.Glu253Ter) | gnomAD v4 |
17 | g.6425741C>G | CA397394745 | AIPL1 | c.874G>C (p.Glu292Gln) c.685G>C (p.Glu229Gln) c.*746G>C (n.*746G>C) c.808G>C (p.Glu270Gln) c.251+8178G>C c.838G>C (p.Glu280Gln) c.*845G>C (n.*845G>C) c.694G>C (p.Glu232Gln) c.802G>C (p.Glu268Gln) c.757G>C (p.Glu253Gln) | |
17 | g.6425741C>T | CA397394746 | AIPL1 | c.874G>A (p.Glu292Lys) c.685G>A (p.Glu229Lys) c.*746G>A (n.*746G>A) c.808G>A (p.Glu270Lys) c.251+8178G>A c.838G>A (p.Glu280Lys) c.*845G>A (n.*845G>A) c.694G>A (p.Glu232Lys) c.802G>A (p.Glu268Lys) c.757G>A (p.Glu253Lys) | |
17 | g.6425742C>A | CA497687431 | AIPL1 | c.873G>T (p.Leu291=) c.684G>T (p.Leu228=) c.*745G>T (n.*745G>T) c.807G>T (p.Leu269=) c.251+8177G>T c.837G>T (p.Leu279=) c.*844G>T (n.*844G>T) c.693G>T (p.Leu231=) c.801G>T (p.Leu267=) c.756G>T (p.Leu252=) | |
17 | g.6425742C>G | CA497687430 | AIPL1 | c.873G>C (p.Leu291=) c.684G>C (p.Leu228=) c.*745G>C (n.*745G>C) c.807G>C (p.Leu269=) c.251+8177G>C c.837G>C (p.Leu279=) c.*844G>C (n.*844G>C) c.693G>C (p.Leu231=) c.801G>C (p.Leu267=) c.756G>C (p.Leu252=) | |
17 | g.6425742C>T | CA497687432 | AIPL1 | c.873G>A (p.Leu291=) c.684G>A (p.Leu228=) c.*745G>A (n.*745G>A) c.807G>A (p.Leu269=) c.251+8177G>A c.837G>A (p.Leu279=) c.*844G>A (n.*844G>A) c.693G>A (p.Leu231=) c.801G>A (p.Leu267=) c.756G>A (p.Leu252=) | gnomAD v4 |
17 | g.6425743A>C | CA397394747 | AIPL1 | c.872T>G (p.Leu291Arg) c.683T>G (p.Leu228Arg) c.*744T>G (n.*744T>G) c.806T>G (p.Leu269Arg) c.251+8176T>G c.836T>G (p.Leu279Arg) c.*843T>G (n.*843T>G) c.692T>G (p.Leu231Arg) c.800T>G (p.Leu267Arg) c.755T>G (p.Leu252Arg) | |
17 | g.6425743A>G | CA397394748 | AIPL1 | c.872T>C (p.Leu291Pro) c.683T>C (p.Leu228Pro) c.*744T>C (n.*744T>C) c.806T>C (p.Leu269Pro) c.251+8176T>C c.836T>C (p.Leu279Pro) c.*843T>C (n.*843T>C) c.692T>C (p.Leu231Pro) c.800T>C (p.Leu267Pro) c.755T>C (p.Leu252Pro) | |
17 | g.6425743A>T | CA397394749 | AIPL1 | c.872T>A (p.Leu291Gln) c.683T>A (p.Leu228Gln) c.*744T>A (n.*744T>A) c.806T>A (p.Leu269Gln) c.251+8176T>A c.836T>A (p.Leu279Gln) c.*843T>A (n.*843T>A) c.692T>A (p.Leu231Gln) c.800T>A (p.Leu267Gln) c.755T>A (p.Leu252Gln) | |
17 | g.6425744G>A | CA497687433 | AIPL1 | c.871C>T (p.Leu291=) c.682C>T (p.Leu228=) c.*743C>T (n.*743C>T) c.805C>T (p.Leu269=) c.251+8175C>T c.835C>T (p.Leu279=) c.*842C>T (n.*842C>T) c.691C>T (p.Leu231=) c.799C>T (p.Leu267=) c.754C>T (p.Leu252=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425744G>C | CA397394750 | AIPL1 | c.871C>G (p.Leu291Val) c.682C>G (p.Leu228Val) c.*743C>G (n.*743C>G) c.805C>G (p.Leu269Val) c.251+8175C>G c.835C>G (p.Leu279Val) c.*842C>G (n.*842C>G) c.691C>G (p.Leu231Val) c.799C>G (p.Leu267Val) c.754C>G (p.Leu252Val) | gnomAD v4 |
17 | g.6425744G= | CA2245347020 | AIPL1 | c.871C= (p.Leu291=) c.682C= (p.Leu228=) c.*743C= (n.*743C=) c.805C= (p.Leu269=) c.251+8175C= c.835C= (p.Leu279=) c.*842C= (n.*842C=) c.691C= (p.Leu231=) c.799C= (p.Leu267=) c.754C= (p.Leu252=) | |
17 | g.6425744G>T | CA397394751 | AIPL1 | c.871C>A (p.Leu291Met) c.682C>A (p.Leu228Met) c.*743C>A (n.*743C>A) c.805C>A (p.Leu269Met) c.251+8175C>A c.835C>A (p.Leu279Met) c.*842C>A (n.*842C>A) c.691C>A (p.Leu231Met) c.799C>A (p.Leu267Met) c.754C>A (p.Leu252Met) | gnomAD v4 |
17 | g.6425745C>A | CA497687434 | AIPL1 | c.870G>T (p.Val290=) c.681G>T (p.Val227=) c.*742G>T (n.*742G>T) c.804G>T (p.Val268=) c.251+8174G>T c.834G>T (p.Val278=) c.*841G>T (n.*841G>T) c.690G>T (p.Val230=) c.798G>T (p.Val266=) c.753G>T (p.Val251=) | |
17 | g.6425745C>G | CA497687435 | AIPL1 | c.870G>C (p.Val290=) c.681G>C (p.Val227=) c.*742G>C (n.*742G>C) c.804G>C (p.Val268=) c.251+8174G>C c.834G>C (p.Val278=) c.*841G>C (n.*841G>C) c.690G>C (p.Val230=) c.798G>C (p.Val266=) c.753G>C (p.Val251=) | |
17 | g.6425745C>T | CA497687436 | AIPL1 | c.870G>A (p.Val290=) c.681G>A (p.Val227=) c.*742G>A (n.*742G>A) c.804G>A (p.Val268=) c.251+8174G>A c.834G>A (p.Val278=) c.*841G>A (n.*841G>A) c.690G>A (p.Val230=) c.798G>A (p.Val266=) c.753G>A (p.Val251=) | gnomAD v4 |
17 | g.6425746A>C | CA397394752 | AIPL1 | c.869T>G (p.Val290Gly) c.680T>G (p.Val227Gly) c.*741T>G (n.*741T>G) c.803T>G (p.Val268Gly) c.251+8173T>G c.833T>G (p.Val278Gly) c.*840T>G (n.*840T>G) c.689T>G (p.Val230Gly) c.797T>G (p.Val266Gly) c.752T>G (p.Val251Gly) | |
17 | g.6425746A>G | CA397394753 | AIPL1 | c.869T>C (p.Val290Ala) c.680T>C (p.Val227Ala) c.*741T>C (n.*741T>C) c.803T>C (p.Val268Ala) c.251+8173T>C c.833T>C (p.Val278Ala) c.*840T>C (n.*840T>C) c.689T>C (p.Val230Ala) c.797T>C (p.Val266Ala) c.752T>C (p.Val251Ala) | |
17 | g.6425746A>T | CA397394754 | AIPL1 | c.869T>A (p.Val290Glu) c.680T>A (p.Val227Glu) c.*741T>A (n.*741T>A) c.803T>A (p.Val268Glu) c.251+8173T>A c.833T>A (p.Val278Glu) c.*840T>A (n.*840T>A) c.689T>A (p.Val230Glu) c.797T>A (p.Val266Glu) c.752T>A (p.Val251Glu) | |
17 | g.6425747C>A | CA397394755 | AIPL1 | c.868G>T (p.Val290Leu) c.679G>T (p.Val227Leu) c.*740G>T (n.*740G>T) c.802G>T (p.Val268Leu) c.251+8172G>T c.832G>T (p.Val278Leu) c.*839G>T (n.*839G>T) c.688G>T (p.Val230Leu) c.796G>T (p.Val266Leu) c.751G>T (p.Val251Leu) | |
17 | g.6425747C= | CA2245347021 | AIPL1 | c.868G= (p.Val290=) c.679G= (p.Val227=) c.*740G= (n.*740G=) c.802G= (p.Val268=) c.251+8172G= c.832G= (p.Val278=) c.*839G= (n.*839G=) c.688G= (p.Val230=) c.796G= (p.Val266=) c.751G= (p.Val251=) | |
17 | g.6425747C>G | CA8328364 | AIPL1 | c.868G>C (p.Val290Leu) c.679G>C (p.Val227Leu) c.*740G>C (n.*740G>C) c.802G>C (p.Val268Leu) c.251+8172G>C c.832G>C (p.Val278Leu) c.*839G>C (n.*839G>C) c.688G>C (p.Val230Leu) c.796G>C (p.Val266Leu) c.751G>C (p.Val251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425747C>T | CA397394756 | AIPL1 | c.868G>A (p.Val290Met) c.679G>A (p.Val227Met) c.*740G>A (n.*740G>A) c.802G>A (p.Val268Met) c.251+8172G>A c.832G>A (p.Val278Met) c.*839G>A (n.*839G>A) c.688G>A (p.Val230Met) c.796G>A (p.Val266Met) c.751G>A (p.Val251Met) | |
17 | g.6425748T>A | CA8328365 | AIPL1 | c.867A>T (p.Lys289Asn) c.678A>T (p.Lys226Asn) c.*739A>T (n.*739A>T) c.801A>T (p.Lys267Asn) c.251+8171A>T c.831A>T (p.Lys277Asn) c.*838A>T (n.*838A>T) c.687A>T (p.Lys229Asn) c.795A>T (p.Lys265Asn) c.750A>T (p.Lys250Asn) | dbSNP ExAC |
17 | g.6425748T>C | CA497687437 | AIPL1 | c.867A>G (p.Lys289=) c.678A>G (p.Lys226=) c.*739A>G (n.*739A>G) c.801A>G (p.Lys267=) c.251+8171A>G c.831A>G (p.Lys277=) c.*838A>G (n.*838A>G) c.687A>G (p.Lys229=) c.795A>G (p.Lys265=) c.750A>G (p.Lys250=) | ClinVar |
17 | g.6425748T>G | CA397394757 | AIPL1 | c.867A>C (p.Lys289Asn) c.678A>C (p.Lys226Asn) c.*739A>C (n.*739A>C) c.801A>C (p.Lys267Asn) c.251+8171A>C c.831A>C (p.Lys277Asn) c.*838A>C (n.*838A>C) c.687A>C (p.Lys229Asn) c.795A>C (p.Lys265Asn) c.750A>C (p.Lys250Asn) | |
17 | g.6425748T= | CA2245347022 | AIPL1 | c.867A= (p.Lys289=) c.678A= (p.Lys226=) c.*739A= (n.*739A=) c.801A= (p.Lys267=) c.251+8171A= c.831A= (p.Lys277=) c.*838A= (n.*838A=) c.687A= (p.Lys229=) c.795A= (p.Lys265=) c.750A= (p.Lys250=) | |
17 | g.6425750dup | CA2697556145 | AIPL1 | c.867dup (p.Val290SerfsTer?) c.678dup (p.Val227SerfsTer?) c.*739dup (n.*739dup) c.801dup (p.Val268SerfsTer?) c.251+8171dup c.831dup (p.Val278SerfsTer?) c.*838dup (n.*838dup) c.687dup (p.Val230SerfsTer?) c.795dup (p.Val266SerfsTer?) c.750dup (p.Val251SerfsTer?) | ClinVar |
17 | g.6425749T>A | CA397394758 | AIPL1 | c.866A>T (p.Lys289Ile) c.677A>T (p.Lys226Ile) c.*738A>T (n.*738A>T) c.800A>T (p.Lys267Ile) c.251+8170A>T c.830A>T (p.Lys277Ile) c.*837A>T (n.*837A>T) c.686A>T (p.Lys229Ile) c.794A>T (p.Lys265Ile) c.749A>T (p.Lys250Ile) | |
17 | g.6425749T>C | CA397394759 | AIPL1 | c.866A>G (p.Lys289Arg) c.677A>G (p.Lys226Arg) c.*738A>G (n.*738A>G) c.800A>G (p.Lys267Arg) c.251+8170A>G c.830A>G (p.Lys277Arg) c.*837A>G (n.*837A>G) c.686A>G (p.Lys229Arg) c.794A>G (p.Lys265Arg) c.749A>G (p.Lys250Arg) | dbSNP |
17 | g.6425749T>G | CA397394760 | AIPL1 | c.866A>C (p.Lys289Thr) c.677A>C (p.Lys226Thr) c.*738A>C (n.*738A>C) c.800A>C (p.Lys267Thr) c.251+8170A>C c.830A>C (p.Lys277Thr) c.*837A>C (n.*837A>C) c.686A>C (p.Lys229Thr) c.794A>C (p.Lys265Thr) c.749A>C (p.Lys250Thr) | COSMIC |
17 | g.6425749T= | CA2245347024 | AIPL1 | c.866A= (p.Lys289=) c.677A= (p.Lys226=) c.*738A= (n.*738A=) c.800A= (p.Lys267=) c.251+8170A= c.830A= (p.Lys277=) c.*837A= (n.*837A=) c.686A= (p.Lys229=) c.794A= (p.Lys265=) c.749A= (p.Lys250=) | |
17 | g.6425750T>A | CA397394761 | AIPL1 | c.865A>T (p.Lys289Ter) c.676A>T (p.Lys226Ter) c.*737A>T (n.*737A>T) c.799A>T (p.Lys267Ter) c.251+8169A>T c.829A>T (p.Lys277Ter) c.*836A>T (n.*836A>T) c.685A>T (p.Lys229Ter) c.793A>T (p.Lys265Ter) c.748A>T (p.Lys250Ter) | gnomAD v4 |
17 | g.6425750T>C | CA397394762 | AIPL1 | c.865A>G (p.Lys289Glu) c.676A>G (p.Lys226Glu) c.*737A>G (n.*737A>G) c.799A>G (p.Lys267Glu) c.251+8169A>G c.829A>G (p.Lys277Glu) c.*836A>G (n.*836A>G) c.685A>G (p.Lys229Glu) c.793A>G (p.Lys265Glu) c.748A>G (p.Lys250Glu) | |
17 | g.6425750T>G | CA8328366 | AIPL1 | c.865A>C (p.Lys289Gln) c.676A>C (p.Lys226Gln) c.*737A>C (n.*737A>C) c.799A>C (p.Lys267Gln) c.251+8169A>C c.829A>C (p.Lys277Gln) c.*836A>C (n.*836A>C) c.685A>C (p.Lys229Gln) c.793A>C (p.Lys265Gln) c.748A>C (p.Lys250Gln) | dbSNP ExAC gnomAD v2 |
17 | g.6425750T= | CA2245347026 | AIPL1 | c.865A= (p.Lys289=) c.676A= (p.Lys226=) c.*737A= (n.*737A=) c.799A= (p.Lys267=) c.251+8169A= c.829A= (p.Lys277=) c.*836A= (n.*836A=) c.685A= (p.Lys229=) c.793A= (p.Lys265=) c.748A= (p.Lys250=) | |
17 | g.6425751C>A | CA397394763 | AIPL1 | c.864G>T (p.Gln288His) c.675G>T (p.Gln225His) c.*736G>T (n.*736G>T) c.798G>T (p.Gln266His) c.251+8168G>T c.828G>T (p.Gln276His) c.*835G>T (n.*835G>T) c.684G>T (p.Gln228His) c.792G>T (p.Gln264His) c.747G>T (p.Gln249His) | |
17 | g.6425751C= | CA2245347028 | AIPL1 | c.864G= (p.Gln288=) c.675G= (p.Gln225=) c.*736G= (n.*736G=) c.798G= (p.Gln266=) c.251+8168G= c.828G= (p.Gln276=) c.*835G= (n.*835G=) c.684G= (p.Gln228=) c.792G= (p.Gln264=) c.747G= (p.Gln249=) | |
17 | g.6425751C>G | CA246739 | AIPL1 | c.864G>C (p.Gln288His) c.675G>C (p.Gln225His) c.*736G>C (n.*736G>C) c.798G>C (p.Gln266His) c.251+8168G>C c.828G>C (p.Gln276His) c.*835G>C (n.*835G>C) c.684G>C (p.Gln228His) c.792G>C (p.Gln264His) c.747G>C (p.Gln249His) | ClinVar dbSNP gnomAD v4 |
17 | g.6425751C>T | CA497687438 | AIPL1 | c.864G>A (p.Gln288=) c.675G>A (p.Gln225=) c.*736G>A (n.*736G>A) c.798G>A (p.Gln266=) c.251+8168G>A c.828G>A (p.Gln276=) c.*835G>A (n.*835G>A) c.684G>A (p.Gln228=) c.792G>A (p.Gln264=) c.747G>A (p.Gln249=) | |
17 | g.6425752T>A | CA397394764 | AIPL1 | c.863A>T (p.Gln288Leu) c.674A>T (p.Gln225Leu) c.*735A>T (n.*735A>T) c.797A>T (p.Gln266Leu) c.251+8167A>T c.827A>T (p.Gln276Leu) c.*834A>T (n.*834A>T) c.683A>T (p.Gln228Leu) c.791A>T (p.Gln264Leu) c.746A>T (p.Gln249Leu) | |
17 | g.6425752T>C | CA397394765 | AIPL1 | c.863A>G (p.Gln288Arg) c.674A>G (p.Gln225Arg) c.*735A>G (n.*735A>G) c.797A>G (p.Gln266Arg) c.251+8167A>G c.827A>G (p.Gln276Arg) c.*834A>G (n.*834A>G) c.683A>G (p.Gln228Arg) c.791A>G (p.Gln264Arg) c.746A>G (p.Gln249Arg) | dbSNP |
17 | g.6425752T>G | CA397394766 | AIPL1 | c.863A>C (p.Gln288Pro) c.674A>C (p.Gln225Pro) c.*735A>C (n.*735A>C) c.797A>C (p.Gln266Pro) c.251+8167A>C c.827A>C (p.Gln276Pro) c.*834A>C (n.*834A>C) c.683A>C (p.Gln228Pro) c.791A>C (p.Gln264Pro) c.746A>C (p.Gln249Pro) | |
17 | g.6425753G>A | CA397394767 | AIPL1 | c.862C>T (p.Gln288Ter) c.673C>T (p.Gln225Ter) c.*734C>T (n.*734C>T) c.796C>T (p.Gln266Ter) c.251+8166C>T c.826C>T (p.Gln276Ter) c.*833C>T (n.*833C>T) c.682C>T (p.Gln228Ter) c.790C>T (p.Gln264Ter) c.745C>T (p.Gln249Ter) | |
17 | g.6425753G>C | CA397394768 | AIPL1 | c.862C>G (p.Gln288Glu) c.673C>G (p.Gln225Glu) c.*734C>G (n.*734C>G) c.796C>G (p.Gln266Glu) c.251+8166C>G c.826C>G (p.Gln276Glu) c.*833C>G (n.*833C>G) c.682C>G (p.Gln228Glu) c.790C>G (p.Gln264Glu) c.745C>G (p.Gln249Glu) | |
17 | g.6425753G= | CA2245347031 | AIPL1 | c.862C= (p.Gln288=) c.673C= (p.Gln225=) c.*734C= (n.*734C=) c.796C= (p.Gln266=) c.251+8166C= c.826C= (p.Gln276=) c.*833C= (n.*833C=) c.682C= (p.Gln228=) c.790C= (p.Gln264=) c.745C= (p.Gln249=) | |
17 | g.6425753G>T | CA397394769 | AIPL1 | c.862C>A (p.Gln288Lys) c.673C>A (p.Gln225Lys) c.*734C>A (n.*734C>A) c.796C>A (p.Gln266Lys) c.251+8166C>A c.826C>A (p.Gln276Lys) c.*833C>A (n.*833C>A) c.682C>A (p.Gln228Lys) c.790C>A (p.Gln264Lys) c.745C>A (p.Gln249Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425754G>A | CA497687439 | AIPL1 | c.861C>T (p.Leu287=) c.672C>T (p.Leu224=) c.*733C>T (n.*733C>T) c.795C>T (p.Leu265=) c.251+8165C>T c.825C>T (p.Leu275=) c.*832C>T (n.*832C>T) c.681C>T (p.Leu227=) c.789C>T (p.Leu263=) c.744C>T (p.Leu248=) | |
17 | g.6425754G>C | CA497687440 | AIPL1 | c.861C>G (p.Leu287=) c.672C>G (p.Leu224=) c.*733C>G (n.*733C>G) c.795C>G (p.Leu265=) c.251+8165C>G c.825C>G (p.Leu275=) c.*832C>G (n.*832C>G) c.681C>G (p.Leu227=) c.789C>G (p.Leu263=) c.744C>G (p.Leu248=) | |
17 | g.6425754G>T | CA497687441 | AIPL1 | c.861C>A (p.Leu287=) c.672C>A (p.Leu224=) c.*733C>A (n.*733C>A) c.795C>A (p.Leu265=) c.251+8165C>A c.825C>A (p.Leu275=) c.*832C>A (n.*832C>A) c.681C>A (p.Leu227=) c.789C>A (p.Leu263=) c.744C>A (p.Leu248=) | gnomAD v4 |
17 | g.6425755A= | CA2245347033 | AIPL1 | c.860T= (p.Leu287=) c.671T= (p.Leu224=) c.*732T= (n.*732T=) c.794T= (p.Leu265=) c.251+8164T= c.824T= (p.Leu275=) c.*831T= (n.*831T=) c.680T= (p.Leu227=) c.788T= (p.Leu263=) c.743T= (p.Leu248=) | |
17 | g.6425755A>C | CA8328367 | AIPL1 | c.860T>G (p.Leu287Arg) c.671T>G (p.Leu224Arg) c.*732T>G (n.*732T>G) c.794T>G (p.Leu265Arg) c.251+8164T>G c.824T>G (p.Leu275Arg) c.*831T>G (n.*831T>G) c.680T>G (p.Leu227Arg) c.788T>G (p.Leu263Arg) c.743T>G (p.Leu248Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425755A>G | CA397394770 | AIPL1 | c.860T>C (p.Leu287Pro) c.671T>C (p.Leu224Pro) c.*732T>C (n.*732T>C) c.794T>C (p.Leu265Pro) c.251+8164T>C c.824T>C (p.Leu275Pro) c.*831T>C (n.*831T>C) c.680T>C (p.Leu227Pro) c.788T>C (p.Leu263Pro) c.743T>C (p.Leu248Pro) | |
17 | g.6425755A>T | CA397394771 | AIPL1 | c.860T>A (p.Leu287His) c.671T>A (p.Leu224His) c.*732T>A (n.*732T>A) c.794T>A (p.Leu265His) c.251+8164T>A c.824T>A (p.Leu275His) c.*831T>A (n.*831T>A) c.680T>A (p.Leu227His) c.788T>A (p.Leu263His) c.743T>A (p.Leu248His) | |
17 | g.6425756G>A | CA397394772 | AIPL1 | c.859C>T (p.Leu287Phe) c.670C>T (p.Leu224Phe) c.*731C>T (n.*731C>T) c.793C>T (p.Leu265Phe) c.251+8163C>T c.823C>T (p.Leu275Phe) c.*830C>T (n.*830C>T) c.679C>T (p.Leu227Phe) c.787C>T (p.Leu263Phe) c.742C>T (p.Leu248Phe) | |
17 | g.6425756G>C | CA397394773 | AIPL1 | c.859C>G (p.Leu287Val) c.670C>G (p.Leu224Val) c.*731C>G (n.*731C>G) c.793C>G (p.Leu265Val) c.251+8163C>G c.823C>G (p.Leu275Val) c.*830C>G (n.*830C>G) c.679C>G (p.Leu227Val) c.787C>G (p.Leu263Val) c.742C>G (p.Leu248Val) | dbSNP |
17 | g.6425756G= | CA2245347036 | AIPL1 | c.859C= (p.Leu287=) c.670C= (p.Leu224=) c.*731C= (n.*731C=) c.793C= (p.Leu265=) c.251+8163C= c.823C= (p.Leu275=) c.*830C= (n.*830C=) c.679C= (p.Leu227=) c.787C= (p.Leu263=) c.742C= (p.Leu248=) | |
17 | g.6425756G>T | CA397394774 | AIPL1 | c.859C>A (p.Leu287Ile) c.670C>A (p.Leu224Ile) c.*731C>A (n.*731C>A) c.793C>A (p.Leu265Ile) c.251+8163C>A c.823C>A (p.Leu275Ile) c.*830C>A (n.*830C>A) c.679C>A (p.Leu227Ile) c.787C>A (p.Leu263Ile) c.742C>A (p.Leu248Ile) | gnomAD v4 |
17 | g.6425757G>A | CA497687442 | AIPL1 | c.858C>T (p.Asp286=) c.669C>T (p.Asp223=) c.*730C>T (n.*730C>T) c.792C>T (p.Asp264=) c.251+8162C>T c.822C>T (p.Asp274=) c.*829C>T (n.*829C>T) c.678C>T (p.Asp226=) c.786C>T (p.Asp262=) c.741C>T (p.Asp247=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425757G>C | CA397394776 | AIPL1 | c.858C>G (p.Asp286Glu) c.669C>G (p.Asp223Glu) c.*730C>G (n.*730C>G) c.792C>G (p.Asp264Glu) c.251+8162C>G c.822C>G (p.Asp274Glu) c.*829C>G (n.*829C>G) c.678C>G (p.Asp226Glu) c.786C>G (p.Asp262Glu) c.741C>G (p.Asp247Glu) | |
17 | g.6425757G= | CA2245347038 | AIPL1 | c.858C= (p.Asp286=) c.669C= (p.Asp223=) c.*730C= (n.*730C=) c.792C= (p.Asp264=) c.251+8162C= c.822C= (p.Asp274=) c.*829C= (n.*829C=) c.678C= (p.Asp226=) c.786C= (p.Asp262=) c.741C= (p.Asp247=) | |
17 | g.6425757G>T | CA397394775 | AIPL1 | c.858C>A (p.Asp286Glu) c.669C>A (p.Asp223Glu) c.*730C>A (n.*730C>A) c.792C>A (p.Asp264Glu) c.251+8162C>A c.822C>A (p.Asp274Glu) c.*829C>A (n.*829C>A) c.678C>A (p.Asp226Glu) c.786C>A (p.Asp262Glu) c.741C>A (p.Asp247Glu) | gnomAD v4 |
17 | g.6425758T>A | CA397394777 | AIPL1 | c.857A>T (p.Asp286Val) c.668A>T (p.Asp223Val) c.*729A>T (n.*729A>T) c.791A>T (p.Asp264Val) c.251+8161A>T c.821A>T (p.Asp274Val) c.*828A>T (n.*828A>T) c.677A>T (p.Asp226Val) c.785A>T (p.Asp262Val) c.740A>T (p.Asp247Val) | ClinVar dbSNP |
17 | g.6425758T>C | CA397394778 | AIPL1 | c.857A>G (p.Asp286Gly) c.668A>G (p.Asp223Gly) c.*729A>G (n.*729A>G) c.791A>G (p.Asp264Gly) c.251+8161A>G c.821A>G (p.Asp274Gly) c.*828A>G (n.*828A>G) c.677A>G (p.Asp226Gly) c.785A>G (p.Asp262Gly) c.740A>G (p.Asp247Gly) | |
17 | g.6425758T>G | CA397394779 | AIPL1 | c.857A>C (p.Asp286Ala) c.668A>C (p.Asp223Ala) c.*729A>C (n.*729A>C) c.791A>C (p.Asp264Ala) c.251+8161A>C c.821A>C (p.Asp274Ala) c.*828A>C (n.*828A>C) c.677A>C (p.Asp226Ala) c.785A>C (p.Asp262Ala) c.740A>C (p.Asp247Ala) | dbSNP |
17 | g.6425758T= | CA2245347040 | AIPL1 | c.857A= (p.Asp286=) c.668A= (p.Asp223=) c.*729A= (n.*729A=) c.791A= (p.Asp264=) c.251+8161A= c.821A= (p.Asp274=) c.*828A= (n.*828A=) c.677A= (p.Asp226=) c.785A= (p.Asp262=) c.740A= (p.Asp247=) | |
17 | g.6425759C>A | CA397394780 | AIPL1 | c.856G>T (p.Asp286Tyr) c.667G>T (p.Asp223Tyr) c.*728G>T (n.*728G>T) c.790G>T (p.Asp264Tyr) c.251+8160G>T c.820G>T (p.Asp274Tyr) c.*827G>T (n.*827G>T) c.676G>T (p.Asp226Tyr) c.784G>T (p.Asp262Tyr) c.739G>T (p.Asp247Tyr) | gnomAD v4 |
17 | g.6425759C>G | CA397394781 | AIPL1 | c.856G>C (p.Asp286His) c.667G>C (p.Asp223His) c.*728G>C (n.*728G>C) c.790G>C (p.Asp264His) c.251+8160G>C c.820G>C (p.Asp274His) c.*827G>C (n.*827G>C) c.676G>C (p.Asp226His) c.784G>C (p.Asp262His) c.739G>C (p.Asp247His) | gnomAD v4 |
17 | g.6425759C>T | CA397394782 | AIPL1 | c.856G>A (p.Asp286Asn) c.667G>A (p.Asp223Asn) c.*728G>A (n.*728G>A) c.790G>A (p.Asp264Asn) c.251+8160G>A c.820G>A (p.Asp274Asn) c.*827G>A (n.*827G>A) c.676G>A (p.Asp226Asn) c.784G>A (p.Asp262Asn) c.739G>A (p.Asp247Asn) | |
17 | g.6425760C>A | CA497687443 | AIPL1 | c.855G>T (p.Ala285=) c.666G>T (p.Ala222=) c.*727G>T (n.*727G>T) c.789G>T (p.Ala263=) c.251+8159G>T c.819G>T (p.Ala273=) c.*826G>T (n.*826G>T) c.675G>T (p.Ala225=) c.783G>T (p.Ala261=) c.738G>T (p.Ala246=) | |
17 | g.6425760C= | CA2245347043 | AIPL1 | c.855G= (p.Ala285=) c.666G= (p.Ala222=) c.*727G= (n.*727G=) c.789G= (p.Ala263=) c.251+8159G= c.819G= (p.Ala273=) c.*826G= (n.*826G=) c.675G= (p.Ala225=) c.783G= (p.Ala261=) c.738G= (p.Ala246=) | |
17 | g.6425760C>G | CA497687444 | AIPL1 | c.855G>C (p.Ala285=) c.666G>C (p.Ala222=) c.*727G>C (n.*727G>C) c.789G>C (p.Ala263=) c.251+8159G>C c.819G>C (p.Ala273=) c.*826G>C (n.*826G>C) c.675G>C (p.Ala225=) c.783G>C (p.Ala261=) c.738G>C (p.Ala246=) | dbSNP |
17 | g.6425760C>T | CA287323938 | AIPL1 | c.855G>A (p.Ala285=) c.666G>A (p.Ala222=) c.*727G>A (n.*727G>A) c.789G>A (p.Ala263=) c.251+8159G>A c.819G>A (p.Ala273=) c.*826G>A (n.*826G>A) c.675G>A (p.Ala225=) c.783G>A (p.Ala261=) c.738G>A (p.Ala246=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425761G>A | CA397394783 | AIPL1 | c.854C>T (p.Ala285Val) c.665C>T (p.Ala222Val) c.*726C>T (n.*726C>T) c.788C>T (p.Ala263Val) c.251+8158C>T c.818C>T (p.Ala273Val) c.*825C>T (n.*825C>T) c.674C>T (p.Ala225Val) c.782C>T (p.Ala261Val) c.737C>T (p.Ala246Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425761G>C | CA397394784 | AIPL1 | c.854C>G (p.Ala285Gly) c.665C>G (p.Ala222Gly) c.*726C>G (n.*726C>G) c.788C>G (p.Ala263Gly) c.251+8158C>G c.818C>G (p.Ala273Gly) c.*825C>G (n.*825C>G) c.674C>G (p.Ala225Gly) c.782C>G (p.Ala261Gly) c.737C>G (p.Ala246Gly) | |
17 | g.6425761G= | CA2245347046 | AIPL1 | c.854C= (p.Ala285=) c.665C= (p.Ala222=) c.*726C= (n.*726C=) c.788C= (p.Ala263=) c.251+8158C= c.818C= (p.Ala273=) c.*825C= (n.*825C=) c.674C= (p.Ala225=) c.782C= (p.Ala261=) c.737C= (p.Ala246=) | |
17 | g.6425761G>T | CA8328368 | AIPL1 | c.854C>A (p.Ala285Glu) c.665C>A (p.Ala222Glu) c.*726C>A (n.*726C>A) c.788C>A (p.Ala263Glu) c.251+8158C>A c.818C>A (p.Ala273Glu) c.*825C>A (n.*825C>A) c.674C>A (p.Ala225Glu) c.782C>A (p.Ala261Glu) c.737C>A (p.Ala246Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425761_6425762delinsTT | CA2499224830 | AIPL1 | c.853_854delinsAA (p.Ala285Lys) c.664_665delinsAA (p.Ala222Lys) c.*725_*726delinsAA (n.*725_*726delinsAA) c.787_788delinsAA (p.Ala263Lys) c.251+8157_251+8158delinsAA c.817_818delinsAA (p.Ala273Lys) c.*824_*825delinsAA (n.*824_*825delinsAA) c.673_674delinsAA (p.Ala225Lys) c.781_782delinsAA (p.Ala261Lys) c.736_737delinsAA (p.Ala246Lys) | ClinVar dbSNP |
17 | g.6425762C>A | CA397394785 | AIPL1 | c.853G>T (p.Ala285Ser) c.664G>T (p.Ala222Ser) c.*725G>T (n.*725G>T) c.787G>T (p.Ala263Ser) c.251+8157G>T c.817G>T (p.Ala273Ser) c.*824G>T (n.*824G>T) c.673G>T (p.Ala225Ser) c.781G>T (p.Ala261Ser) c.736G>T (p.Ala246Ser) | |
17 | g.6425762C= | CA2245347050 | AIPL1 | c.853G= (p.Ala285=) c.664G= (p.Ala222=) c.*725G= (n.*725G=) c.787G= (p.Ala263=) c.251+8157G= c.817G= (p.Ala273=) c.*824G= (n.*824G=) c.673G= (p.Ala225=) c.781G= (p.Ala261=) c.736G= (p.Ala246=) | |
17 | g.6425762C>G | CA397394786 | AIPL1 | c.853G>C (p.Ala285Pro) c.664G>C (p.Ala222Pro) c.*725G>C (n.*725G>C) c.787G>C (p.Ala263Pro) c.251+8157G>C c.817G>C (p.Ala273Pro) c.*824G>C (n.*824G>C) c.673G>C (p.Ala225Pro) c.781G>C (p.Ala261Pro) c.736G>C (p.Ala246Pro) | |
17 | g.6425762C>T | CA8328369 | AIPL1 | c.853G>A (p.Ala285Thr) c.664G>A (p.Ala222Thr) c.*725G>A (n.*725G>A) c.787G>A (p.Ala263Thr) c.251+8157G>A c.817G>A (p.Ala273Thr) c.*824G>A (n.*824G>A) c.673G>A (p.Ala225Thr) c.781G>A (p.Ala261Thr) c.736G>A (p.Ala246Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425763C>A | CA397394787 | AIPL1 | c.852G>T (p.Lys284Asn) c.663G>T (p.Lys221Asn) c.*724G>T (n.*724G>T) c.786G>T (p.Lys262Asn) c.251+8156G>T c.816G>T (p.Lys272Asn) c.*823G>T (n.*823G>T) c.672G>T (p.Lys224Asn) c.780G>T (p.Lys260Asn) c.735G>T (p.Lys245Asn) | |
17 | g.6425763C= | CA2245347052 | AIPL1 | c.852G= (p.Lys284=) c.663G= (p.Lys221=) c.*724G= (n.*724G=) c.786G= (p.Lys262=) c.251+8156G= c.816G= (p.Lys272=) c.*823G= (n.*823G=) c.672G= (p.Lys224=) c.780G= (p.Lys260=) c.735G= (p.Lys245=) | |
17 | g.6425763C>G | CA397394788 | AIPL1 | c.852G>C (p.Lys284Asn) c.663G>C (p.Lys221Asn) c.*724G>C (n.*724G>C) c.786G>C (p.Lys262Asn) c.251+8156G>C c.816G>C (p.Lys272Asn) c.*823G>C (n.*823G>C) c.672G>C (p.Lys224Asn) c.780G>C (p.Lys260Asn) c.735G>C (p.Lys245Asn) | |
17 | g.6425763C>T | CA497687445 | AIPL1 | c.852G>A (p.Lys284=) c.663G>A (p.Lys221=) c.*724G>A (n.*724G>A) c.786G>A (p.Lys262=) c.251+8156G>A c.816G>A (p.Lys272=) c.*823G>A (n.*823G>A) c.672G>A (p.Lys224=) c.780G>A (p.Lys260=) c.735G>A (p.Lys245=) | dbSNP gnomAD v4 |
17 | g.6425764T>A | CA397394789 | AIPL1 | c.851A>T (p.Lys284Met) c.662A>T (p.Lys221Met) c.*723A>T (n.*723A>T) c.785A>T (p.Lys262Met) c.251+8155A>T c.815A>T (p.Lys272Met) c.*822A>T (n.*822A>T) c.671A>T (p.Lys224Met) c.779A>T (p.Lys260Met) c.734A>T (p.Lys245Met) | |
17 | g.6425764T>C | CA397394790 | AIPL1 | c.851A>G (p.Lys284Arg) c.662A>G (p.Lys221Arg) c.*723A>G (n.*723A>G) c.785A>G (p.Lys262Arg) c.251+8155A>G c.815A>G (p.Lys272Arg) c.*822A>G (n.*822A>G) c.671A>G (p.Lys224Arg) c.779A>G (p.Lys260Arg) c.734A>G (p.Lys245Arg) | |
17 | g.6425764T>G | CA397394791 | AIPL1 | c.851A>C (p.Lys284Thr) c.662A>C (p.Lys221Thr) c.*723A>C (n.*723A>C) c.785A>C (p.Lys262Thr) c.251+8155A>C c.815A>C (p.Lys272Thr) c.*822A>C (n.*822A>C) c.671A>C (p.Lys224Thr) c.779A>C (p.Lys260Thr) c.734A>C (p.Lys245Thr) | |
17 | g.6425765del | CA2635688841 | AIPL1 | c.851del (p.Lys284ArgfsTer22) c.662del (p.Lys221ArgfsTer22) c.*723del (n.*723del) c.785del (p.Lys262ArgfsTer22) c.251+8155del c.815del (p.Lys272ArgfsTer22) c.*822del (n.*822del) c.671del (p.Lys224ArgfsTer22) c.779del (p.Lys260ArgfsTer22) c.734del (p.Lys245ArgfsTer22) | gnomAD v4 |
17 | g.6425765T>A | CA397394792 | AIPL1 | c.850A>T (p.Lys284Ter) c.661A>T (p.Lys221Ter) c.*722A>T (n.*722A>T) c.784A>T (p.Lys262Ter) c.251+8154A>T c.814A>T (p.Lys272Ter) c.*821A>T (n.*821A>T) c.670A>T (p.Lys224Ter) c.778A>T (p.Lys260Ter) c.733A>T (p.Lys245Ter) | |
17 | g.6425765T>C | CA397394793 | AIPL1 | c.850A>G (p.Lys284Glu) c.661A>G (p.Lys221Glu) c.*722A>G (n.*722A>G) c.784A>G (p.Lys262Glu) c.251+8154A>G c.814A>G (p.Lys272Glu) c.*821A>G (n.*821A>G) c.670A>G (p.Lys224Glu) c.778A>G (p.Lys260Glu) c.733A>G (p.Lys245Glu) | |
17 | g.6425765T>G | CA397394794 | AIPL1 | c.850A>C (p.Lys284Gln) c.661A>C (p.Lys221Gln) c.*722A>C (n.*722A>C) c.784A>C (p.Lys262Gln) c.251+8154A>C c.814A>C (p.Lys272Gln) c.*821A>C (n.*821A>C) c.670A>C (p.Lys224Gln) c.778A>C (p.Lys260Gln) c.733A>C (p.Lys245Gln) | |
17 | g.6425766G>A | CA497687448 | AIPL1 | c.849C>T (p.Ala283=) c.660C>T (p.Ala220=) c.*721C>T (n.*721C>T) c.783C>T (p.Ala261=) c.251+8153C>T c.813C>T (p.Ala271=) c.*820C>T (n.*820C>T) c.669C>T (p.Ala223=) c.777C>T (p.Ala259=) c.732C>T (p.Ala244=) | |
17 | g.6425766G>C | CA497687447 | AIPL1 | c.849C>G (p.Ala283=) c.660C>G (p.Ala220=) c.*721C>G (n.*721C>G) c.783C>G (p.Ala261=) c.251+8153C>G c.813C>G (p.Ala271=) c.*820C>G (n.*820C>G) c.669C>G (p.Ala223=) c.777C>G (p.Ala259=) c.732C>G (p.Ala244=) | gnomAD v4 |
17 | g.6425766G>T | CA497687446 | AIPL1 | c.849C>A (p.Ala283=) c.660C>A (p.Ala220=) c.*721C>A (n.*721C>A) c.783C>A (p.Ala261=) c.251+8153C>A c.813C>A (p.Ala271=) c.*820C>A (n.*820C>A) c.669C>A (p.Ala223=) c.777C>A (p.Ala259=) c.732C>A (p.Ala244=) | gnomAD v4 |
17 | g.6425772_6425777dup | CA2635688842 | AIPL1 | c.844_849dup (p.Ala283_Lys284insGluAla) c.655_660dup (p.Ala220_Lys221insGluAla) c.*716_*721dup (n.*716_*721dup) c.778_783dup (p.Ala261_Lys262insGluAla) c.251+8148_251+8153dup c.808_813dup (p.Ala271_Lys272insGluAla) c.*815_*820dup (n.*815_*820dup) c.664_669dup (p.Ala223_Lys224insGluAla) c.772_777dup (p.Ala259_Lys260insGluAla) c.727_732dup (p.Ala244_Lys245insGluAla) | gnomAD v4 |
17 | g.6425772_6425777del | CA2635688843 | AIPL1 | c.844_849del (p.Glu282_Ala283del) c.655_660del (p.Glu219_Ala220del) c.*716_*721del (n.*716_*721del) c.778_783del (p.Glu260_Ala261del) c.251+8148_251+8153del c.808_813del (p.Glu270_Ala271del) c.*815_*820del (n.*815_*820del) c.664_669del (p.Glu222_Ala223del) c.772_777del (p.Glu258_Ala259del) c.727_732del (p.Glu243_Ala244del) | gnomAD v4 |
17 | g.6425767G>A | CA397394797 | AIPL1 | c.848C>T (p.Ala283Val) c.659C>T (p.Ala220Val) c.*720C>T (n.*720C>T) c.782C>T (p.Ala261Val) c.251+8152C>T c.812C>T (p.Ala271Val) c.*819C>T (n.*819C>T) c.668C>T (p.Ala223Val) c.776C>T (p.Ala259Val) c.731C>T (p.Ala244Val) | gnomAD v4 |
17 | g.6425767G>C | CA397394795 | AIPL1 | c.848C>G (p.Ala283Gly) c.659C>G (p.Ala220Gly) c.*720C>G (n.*720C>G) c.782C>G (p.Ala261Gly) c.251+8152C>G c.812C>G (p.Ala271Gly) c.*819C>G (n.*819C>G) c.668C>G (p.Ala223Gly) c.776C>G (p.Ala259Gly) c.731C>G (p.Ala244Gly) | |
17 | g.6425767G>T | CA397394796 | AIPL1 | c.848C>A (p.Ala283Asp) c.659C>A (p.Ala220Asp) c.*720C>A (n.*720C>A) c.782C>A (p.Ala261Asp) c.251+8152C>A c.812C>A (p.Ala271Asp) c.*819C>A (n.*819C>A) c.668C>A (p.Ala223Asp) c.776C>A (p.Ala259Asp) c.731C>A (p.Ala244Asp) | gnomAD v4 |
17 | g.6425768C>A | CA397394798 | AIPL1 | c.847G>T (p.Ala283Ser) c.658G>T (p.Ala220Ser) c.*719G>T (n.*719G>T) c.781G>T (p.Ala261Ser) c.251+8151G>T c.811G>T (p.Ala271Ser) c.*818G>T (n.*818G>T) c.667G>T (p.Ala223Ser) c.775G>T (p.Ala259Ser) c.730G>T (p.Ala244Ser) | |
17 | g.6425768C= | CA2245347054 | AIPL1 | c.847G= (p.Ala283=) c.658G= (p.Ala220=) c.*719G= (n.*719G=) c.781G= (p.Ala261=) c.251+8151G= c.811G= (p.Ala271=) c.*818G= (n.*818G=) c.667G= (p.Ala223=) c.775G= (p.Ala259=) c.730G= (p.Ala244=) | |
17 | g.6425768C>G | CA397394799 | AIPL1 | c.847G>C (p.Ala283Pro) c.658G>C (p.Ala220Pro) c.*719G>C (n.*719G>C) c.781G>C (p.Ala261Pro) c.251+8151G>C c.811G>C (p.Ala271Pro) c.*818G>C (n.*818G>C) c.667G>C (p.Ala223Pro) c.775G>C (p.Ala259Pro) c.730G>C (p.Ala244Pro) | |
17 | g.6425768C>T | CA397394800 | AIPL1 | c.847G>A (p.Ala283Thr) c.658G>A (p.Ala220Thr) c.*719G>A (n.*719G>A) c.781G>A (p.Ala261Thr) c.251+8151G>A c.811G>A (p.Ala271Thr) c.*818G>A (n.*818G>A) c.667G>A (p.Ala223Thr) c.775G>A (p.Ala259Thr) c.730G>A (p.Ala244Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425769C>A | CA397394801 | AIPL1 | c.846G>T (p.Glu282Asp) c.657G>T (p.Glu219Asp) c.*718G>T (n.*718G>T) c.780G>T (p.Glu260Asp) c.251+8150G>T c.810G>T (p.Glu270Asp) c.*817G>T (n.*817G>T) c.666G>T (p.Glu222Asp) c.774G>T (p.Glu258Asp) c.729G>T (p.Glu243Asp) | |
17 | g.6425769C>G | CA397394802 | AIPL1 | c.846G>C (p.Glu282Asp) c.657G>C (p.Glu219Asp) c.*718G>C (n.*718G>C) c.780G>C (p.Glu260Asp) c.251+8150G>C c.810G>C (p.Glu270Asp) c.*817G>C (n.*817G>C) c.666G>C (p.Glu222Asp) c.774G>C (p.Glu258Asp) c.729G>C (p.Glu243Asp) | |
17 | g.6425769C>T | CA497687449 | AIPL1 | c.846G>A (p.Glu282=) c.657G>A (p.Glu219=) c.*718G>A (n.*718G>A) c.780G>A (p.Glu260=) c.251+8150G>A c.810G>A (p.Glu270=) c.*817G>A (n.*817G>A) c.666G>A (p.Glu222=) c.774G>A (p.Glu258=) c.729G>A (p.Glu243=) | gnomAD v4 |
17 | g.6425770T>A | CA397394803 | AIPL1 | c.845A>T (p.Glu282Val) c.656A>T (p.Glu219Val) c.*717A>T (n.*717A>T) c.779A>T (p.Glu260Val) c.251+8149A>T c.809A>T (p.Glu270Val) c.*816A>T (n.*816A>T) c.665A>T (p.Glu222Val) c.773A>T (p.Glu258Val) c.728A>T (p.Glu243Val) | |
17 | g.6425770T>C | CA397394805 | AIPL1 | c.845A>G (p.Glu282Gly) c.656A>G (p.Glu219Gly) c.*717A>G (n.*717A>G) c.779A>G (p.Glu260Gly) c.251+8149A>G c.809A>G (p.Glu270Gly) c.*816A>G (n.*816A>G) c.665A>G (p.Glu222Gly) c.773A>G (p.Glu258Gly) c.728A>G (p.Glu243Gly) | |
17 | g.6425770T>G | CA397394804 | AIPL1 | c.845A>C (p.Glu282Ala) c.656A>C (p.Glu219Ala) c.*717A>C (n.*717A>C) c.779A>C (p.Glu260Ala) c.251+8149A>C c.809A>C (p.Glu270Ala) c.*816A>C (n.*816A>C) c.665A>C (p.Glu222Ala) c.773A>C (p.Glu258Ala) c.728A>C (p.Glu243Ala) | |
17 | g.6425771C>A | CA287323941 | AIPL1 | c.844G>T (p.Glu282Ter) c.655G>T (p.Glu219Ter) c.*716G>T (n.*716G>T) c.778G>T (p.Glu260Ter) c.251+8148G>T c.808G>T (p.Glu270Ter) c.*815G>T (n.*815G>T) c.664G>T (p.Glu222Ter) c.772G>T (p.Glu258Ter) c.727G>T (p.Glu243Ter) | dbSNP |
17 | g.6425771C= | CA2245347057 | AIPL1 | c.844G= (p.Glu282=) c.655G= (p.Glu219=) c.*716G= (n.*716G=) c.778G= (p.Glu260=) c.251+8148G= c.808G= (p.Glu270=) c.*815G= (n.*815G=) c.664G= (p.Glu222=) c.772G= (p.Glu258=) c.727G= (p.Glu243=) | |
17 | g.6425771C>G | CA397394806 | AIPL1 | c.844G>C (p.Glu282Gln) c.655G>C (p.Glu219Gln) c.*716G>C (n.*716G>C) c.778G>C (p.Glu260Gln) c.251+8148G>C c.808G>C (p.Glu270Gln) c.*815G>C (n.*815G>C) c.664G>C (p.Glu222Gln) c.772G>C (p.Glu258Gln) c.727G>C (p.Glu243Gln) | |
17 | g.6425771C>T | CA8328370 | AIPL1 | c.844G>A (p.Glu282Lys) c.655G>A (p.Glu219Lys) c.*716G>A (n.*716G>A) c.778G>A (p.Glu260Lys) c.251+8148G>A c.808G>A (p.Glu270Lys) c.*815G>A (n.*815G>A) c.664G>A (p.Glu222Lys) c.772G>A (p.Glu258Lys) c.727G>A (p.Glu243Lys) | dbSNP ExAC gnomAD v4 |
17 | g.6425772_6425775del | CA2808334537 | AIPL1 | c.841_844del (p.Ala281ArgfsTer24) c.652_655del (p.Ala218ArgfsTer24) c.*713_*716del (n.*713_*716del) c.775_778del (p.Ala259ArgfsTer24) c.251+8145_251+8148del c.805_808del (p.Ala269ArgfsTer24) c.*812_*815del (n.*812_*815del) c.661_664del (p.Ala221ArgfsTer24) c.769_772del (p.Ala257ArgfsTer24) c.724_727del (p.Ala242ArgfsTer24) | |
17 | g.6425772G>A | CA497687450 | AIPL1 | c.843C>T (p.Ala281=) c.654C>T (p.Ala218=) c.*715C>T (n.*715C>T) c.777C>T (p.Ala259=) c.251+8147C>T c.807C>T (p.Ala269=) c.*814C>T (n.*814C>T) c.663C>T (p.Ala221=) c.771C>T (p.Ala257=) c.726C>T (p.Ala242=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.6425772G>C | CA497687451 | AIPL1 | c.843C>G (p.Ala281=) c.654C>G (p.Ala218=) c.*715C>G (n.*715C>G) c.777C>G (p.Ala259=) c.251+8147C>G c.807C>G (p.Ala269=) c.*814C>G (n.*814C>G) c.663C>G (p.Ala221=) c.771C>G (p.Ala257=) c.726C>G (p.Ala242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425772G= | CA2245347058 | AIPL1 | c.843C= (p.Ala281=) c.654C= (p.Ala218=) c.*715C= (n.*715C=) c.777C= (p.Ala259=) c.251+8147C= c.807C= (p.Ala269=) c.*814C= (n.*814C=) c.663C= (p.Ala221=) c.771C= (p.Ala257=) c.726C= (p.Ala242=) | |
17 | g.6425772G>T | CA497687452 | AIPL1 | c.843C>A (p.Ala281=) c.654C>A (p.Ala218=) c.*715C>A (n.*715C>A) c.777C>A (p.Ala259=) c.251+8147C>A c.807C>A (p.Ala269=) c.*814C>A (n.*814C>A) c.663C>A (p.Ala221=) c.771C>A (p.Ala257=) c.726C>A (p.Ala242=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425773G>A | CA397394807 | AIPL1 | c.842C>T (p.Ala281Val) c.653C>T (p.Ala218Val) c.*714C>T (n.*714C>T) c.776C>T (p.Ala259Val) c.251+8146C>T c.806C>T (p.Ala269Val) c.*813C>T (n.*813C>T) c.662C>T (p.Ala221Val) c.770C>T (p.Ala257Val) c.725C>T (p.Ala242Val) | dbSNP gnomAD v4 COSMIC |
17 | g.6425773G>C | CA397394808 | AIPL1 | c.842C>G (p.Ala281Gly) c.653C>G (p.Ala218Gly) c.*714C>G (n.*714C>G) c.776C>G (p.Ala259Gly) c.251+8146C>G c.806C>G (p.Ala269Gly) c.*813C>G (n.*813C>G) c.662C>G (p.Ala221Gly) c.770C>G (p.Ala257Gly) c.725C>G (p.Ala242Gly) | |
17 | g.6425773G= | CA2245347061 | AIPL1 | c.842C= (p.Ala281=) c.653C= (p.Ala218=) c.*714C= (n.*714C=) c.776C= (p.Ala259=) c.251+8146C= c.806C= (p.Ala269=) c.*813C= (n.*813C=) c.662C= (p.Ala221=) c.770C= (p.Ala257=) c.725C= (p.Ala242=) | |
17 | g.6425773G>T | CA397394809 | AIPL1 | c.842C>A (p.Ala281Asp) c.653C>A (p.Ala218Asp) c.*714C>A (n.*714C>A) c.776C>A (p.Ala259Asp) c.251+8146C>A c.806C>A (p.Ala269Asp) c.*813C>A (n.*813C>A) c.662C>A (p.Ala221Asp) c.770C>A (p.Ala257Asp) c.725C>A (p.Ala242Asp) | gnomAD v4 |
17 | g.6425774C>A | CA397394810 | AIPL1 | c.841G>T (p.Ala281Ser) c.652G>T (p.Ala218Ser) c.*713G>T (n.*713G>T) c.775G>T (p.Ala259Ser) c.251+8145G>T c.805G>T (p.Ala269Ser) c.*812G>T (n.*812G>T) c.661G>T (p.Ala221Ser) c.769G>T (p.Ala257Ser) c.724G>T (p.Ala242Ser) | gnomAD v4 |
17 | g.6425774C= | CA2245347063 | AIPL1 | c.841G= (p.Ala281=) c.652G= (p.Ala218=) c.*713G= (n.*713G=) c.775G= (p.Ala259=) c.251+8145G= c.805G= (p.Ala269=) c.*812G= (n.*812G=) c.661G= (p.Ala221=) c.769G= (p.Ala257=) c.724G= (p.Ala242=) | |
17 | g.6425774C>G | CA397394811 | AIPL1 | c.841G>C (p.Ala281Pro) c.652G>C (p.Ala218Pro) c.*713G>C (n.*713G>C) c.775G>C (p.Ala259Pro) c.251+8145G>C c.805G>C (p.Ala269Pro) c.*812G>C (n.*812G>C) c.661G>C (p.Ala221Pro) c.769G>C (p.Ala257Pro) c.724G>C (p.Ala242Pro) | |
17 | g.6425774C>T | CA397394812 | AIPL1 | c.841G>A (p.Ala281Thr) c.652G>A (p.Ala218Thr) c.*713G>A (n.*713G>A) c.775G>A (p.Ala259Thr) c.251+8145G>A c.805G>A (p.Ala269Thr) c.*812G>A (n.*812G>A) c.661G>A (p.Ala221Thr) c.769G>A (p.Ala257Thr) c.724G>A (p.Ala242Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425775C>A | CA397394813 | AIPL1 | c.840G>T (p.Glu280Asp) c.651G>T (p.Glu217Asp) c.*712G>T (n.*712G>T) c.774G>T (p.Glu258Asp) c.251+8144G>T c.804G>T (p.Glu268Asp) c.*811G>T (n.*811G>T) c.660G>T (p.Glu220Asp) c.768G>T (p.Glu256Asp) c.723G>T (p.Glu241Asp) | |
17 | g.6425775C= | CA2245347065 | AIPL1 | c.840G= (p.Glu280=) c.651G= (p.Glu217=) c.*712G= (n.*712G=) c.774G= (p.Glu258=) c.251+8144G= c.804G= (p.Glu268=) c.*811G= (n.*811G=) c.660G= (p.Glu220=) c.768G= (p.Glu256=) c.723G= (p.Glu241=) | |
17 | g.6425775C>G | CA397394814 | AIPL1 | c.840G>C (p.Glu280Asp) c.651G>C (p.Glu217Asp) c.*712G>C (n.*712G>C) c.774G>C (p.Glu258Asp) c.251+8144G>C c.804G>C (p.Glu268Asp) c.*811G>C (n.*811G>C) c.660G>C (p.Glu220Asp) c.768G>C (p.Glu256Asp) c.723G>C (p.Glu241Asp) | dbSNP gnomAD v4 |
17 | g.6425775C>T | CA497687453 | AIPL1 | c.840G>A (p.Glu280=) c.651G>A (p.Glu217=) c.*712G>A (n.*712G>A) c.774G>A (p.Glu258=) c.251+8144G>A c.804G>A (p.Glu268=) c.*811G>A (n.*811G>A) c.660G>A (p.Glu220=) c.768G>A (p.Glu256=) c.723G>A (p.Glu241=) | gnomAD v4 |
17 | g.6425776T>A | CA397394816 | AIPL1 | c.839A>T (p.Glu280Val) c.650A>T (p.Glu217Val) c.*711A>T (n.*711A>T) c.773A>T (p.Glu258Val) c.251+8143A>T c.803A>T (p.Glu268Val) c.*810A>T (n.*810A>T) c.659A>T (p.Glu220Val) c.767A>T (p.Glu256Val) c.722A>T (p.Glu241Val) | |
17 | g.6425776T>C | CA397394817 | AIPL1 | c.839A>G (p.Glu280Gly) c.650A>G (p.Glu217Gly) c.*711A>G (n.*711A>G) c.773A>G (p.Glu258Gly) c.251+8143A>G c.803A>G (p.Glu268Gly) c.*810A>G (n.*810A>G) c.659A>G (p.Glu220Gly) c.767A>G (p.Glu256Gly) c.722A>G (p.Glu241Gly) | gnomAD v4 |
17 | g.6425776T>G | CA397394815 | AIPL1 | c.839A>C (p.Glu280Ala) c.650A>C (p.Glu217Ala) c.*711A>C (n.*711A>C) c.773A>C (p.Glu258Ala) c.251+8143A>C c.803A>C (p.Glu268Ala) c.*810A>C (n.*810A>C) c.659A>C (p.Glu220Ala) c.767A>C (p.Glu256Ala) c.722A>C (p.Glu241Ala) | |
17 | g.6425777C>A | CA397394820 | AIPL1 | c.838G>T (p.Glu280Ter) c.649G>T (p.Glu217Ter) c.*710G>T (n.*710G>T) c.772G>T (p.Glu258Ter) c.251+8142G>T c.802G>T (p.Glu268Ter) c.*809G>T (n.*809G>T) c.658G>T (p.Glu220Ter) c.766G>T (p.Glu256Ter) c.721G>T (p.Glu241Ter) | |
17 | g.6425777C>G | CA397394818 | AIPL1 | c.838G>C (p.Glu280Gln) c.649G>C (p.Glu217Gln) c.*710G>C (n.*710G>C) c.772G>C (p.Glu258Gln) c.251+8142G>C c.802G>C (p.Glu268Gln) c.*809G>C (n.*809G>C) c.658G>C (p.Glu220Gln) c.766G>C (p.Glu256Gln) c.721G>C (p.Glu241Gln) | |
17 | g.6425777C>T | CA397394819 | AIPL1 | c.838G>A (p.Glu280Lys) c.649G>A (p.Glu217Lys) c.*710G>A (n.*710G>A) c.772G>A (p.Glu258Lys) c.251+8142G>A c.802G>A (p.Glu268Lys) c.*809G>A (n.*809G>A) c.658G>A (p.Glu220Lys) c.766G>A (p.Glu256Lys) c.721G>A (p.Glu241Lys) | |
17 | g.6425778A>C | CA397394821 | AIPL1 | c.837T>G (p.Asn279Lys) c.648T>G (p.Asn216Lys) c.*709T>G (n.*709T>G) c.771T>G (p.Asn257Lys) c.251+8141T>G c.801T>G (p.Asn267Lys) c.*808T>G (n.*808T>G) c.657T>G (p.Asn219Lys) c.765T>G (p.Asn255Lys) c.720T>G (p.Asn240Lys) | |
17 | g.6425778A>G | CA497687454 | AIPL1 | c.837T>C (p.Asn279=) c.648T>C (p.Asn216=) c.*709T>C (n.*709T>C) c.771T>C (p.Asn257=) c.251+8141T>C c.801T>C (p.Asn267=) c.*808T>C (n.*808T>C) c.657T>C (p.Asn219=) c.765T>C (p.Asn255=) c.720T>C (p.Asn240=) | |
17 | g.6425778A>T | CA397394822 | AIPL1 | c.837T>A (p.Asn279Lys) c.648T>A (p.Asn216Lys) c.*709T>A (n.*709T>A) c.771T>A (p.Asn257Lys) c.251+8141T>A c.801T>A (p.Asn267Lys) c.*808T>A (n.*808T>A) c.657T>A (p.Asn219Lys) c.765T>A (p.Asn255Lys) c.720T>A (p.Asn240Lys) | |
17 | g.6425779T>A | CA397394823 | AIPL1 | c.836A>T (p.Asn279Ile) c.647A>T (p.Asn216Ile) c.*708A>T (n.*708A>T) c.770A>T (p.Asn257Ile) c.251+8140A>T c.800A>T (p.Asn267Ile) c.*807A>T (n.*807A>T) c.656A>T (p.Asn219Ile) c.764A>T (p.Asn255Ile) c.719A>T (p.Asn240Ile) | |
17 | g.6425779T>C | CA397394824 | AIPL1 | c.836A>G (p.Asn279Ser) c.647A>G (p.Asn216Ser) c.*708A>G (n.*708A>G) c.770A>G (p.Asn257Ser) c.251+8140A>G c.800A>G (p.Asn267Ser) c.*807A>G (n.*807A>G) c.656A>G (p.Asn219Ser) c.764A>G (p.Asn255Ser) c.719A>G (p.Asn240Ser) | |
17 | g.6425779T>G | CA397394825 | AIPL1 | c.836A>C (p.Asn279Thr) c.647A>C (p.Asn216Thr) c.*708A>C (n.*708A>C) c.770A>C (p.Asn257Thr) c.251+8140A>C c.800A>C (p.Asn267Thr) c.*807A>C (n.*807A>C) c.656A>C (p.Asn219Thr) c.764A>C (p.Asn255Thr) c.719A>C (p.Asn240Thr) | |
17 | g.6425780T>A | CA397394826 | AIPL1 | c.835A>T (p.Asn279Tyr) c.646A>T (p.Asn216Tyr) c.*707A>T (n.*707A>T) c.769A>T (p.Asn257Tyr) c.251+8139A>T c.799A>T (p.Asn267Tyr) c.*806A>T (n.*806A>T) c.655A>T (p.Asn219Tyr) c.763A>T (p.Asn255Tyr) c.718A>T (p.Asn240Tyr) | |
17 | g.6425780T>C | CA397394827 | AIPL1 | c.835A>G (p.Asn279Asp) c.646A>G (p.Asn216Asp) c.*707A>G (n.*707A>G) c.769A>G (p.Asn257Asp) c.251+8139A>G c.799A>G (p.Asn267Asp) c.*806A>G (n.*806A>G) c.655A>G (p.Asn219Asp) c.763A>G (p.Asn255Asp) c.718A>G (p.Asn240Asp) | |
17 | g.6425780T>G | CA397394828 | AIPL1 | c.835A>C (p.Asn279His) c.646A>C (p.Asn216His) c.*707A>C (n.*707A>C) c.769A>C (p.Asn257His) c.251+8139A>C c.799A>C (p.Asn267His) c.*806A>C (n.*806A>C) c.655A>C (p.Asn219His) c.763A>C (p.Asn255His) c.718A>C (p.Asn240His) | gnomAD v4 |
17 | g.6425781C>A | CA397394829 | AIPL1 | c.834G>T (p.Trp278Cys) c.645G>T (p.Trp215Cys) c.*706G>T (n.*706G>T) c.768G>T (p.Trp256Cys) c.251+8138G>T c.798G>T (p.Trp266Cys) c.*805G>T (n.*805G>T) c.654G>T (p.Trp218Cys) c.762G>T (p.Trp254Cys) c.717G>T (p.Trp239Cys) | |
17 | g.6425781C= | CA2245347067 | AIPL1 | c.834G= (p.Trp278=) c.645G= (p.Trp215=) c.*706G= (n.*706G=) c.768G= (p.Trp256=) c.251+8138G= c.798G= (p.Trp266=) c.*805G= (n.*805G=) c.654G= (p.Trp218=) c.762G= (p.Trp254=) c.717G= (p.Trp239=) | |
17 | g.6425781C>G | CA397394830 | AIPL1 | c.834G>C (p.Trp278Cys) c.645G>C (p.Trp215Cys) c.*706G>C (n.*706G>C) c.768G>C (p.Trp256Cys) c.251+8138G>C c.798G>C (p.Trp266Cys) c.*805G>C (n.*805G>C) c.654G>C (p.Trp218Cys) c.762G>C (p.Trp254Cys) c.717G>C (p.Trp239Cys) | |
17 | g.6425781C>T | CA227899 | AIPL1 | c.834G>A (p.Trp278Ter) c.645G>A (p.Trp215Ter) c.*706G>A (n.*706G>A) c.768G>A (p.Trp256Ter) c.251+8138G>A c.798G>A (p.Trp266Ter) c.*805G>A (n.*805G>A) c.654G>A (p.Trp218Ter) c.762G>A (p.Trp254Ter) c.717G>A (p.Trp239Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425782C>A | CA397394833 | AIPL1 | c.833G>T (p.Trp278Leu) c.644G>T (p.Trp215Leu) c.*705G>T (n.*705G>T) c.767G>T (p.Trp256Leu) c.251+8137G>T c.797G>T (p.Trp266Leu) c.*804G>T (n.*804G>T) c.653G>T (p.Trp218Leu) c.761G>T (p.Trp254Leu) c.716G>T (p.Trp239Leu) | |
17 | g.6425782C>G | CA397394832 | AIPL1 | c.833G>C (p.Trp278Ser) c.644G>C (p.Trp215Ser) c.*705G>C (n.*705G>C) c.767G>C (p.Trp256Ser) c.251+8137G>C c.797G>C (p.Trp266Ser) c.*804G>C (n.*804G>C) c.653G>C (p.Trp218Ser) c.761G>C (p.Trp254Ser) c.716G>C (p.Trp239Ser) | |
17 | g.6425782C>T | CA397394831 | AIPL1 | c.833G>A (p.Trp278Ter) c.644G>A (p.Trp215Ter) c.*705G>A (n.*705G>A) c.767G>A (p.Trp256Ter) c.251+8137G>A c.797G>A (p.Trp266Ter) c.*804G>A (n.*804G>A) c.653G>A (p.Trp218Ter) c.761G>A (p.Trp254Ter) c.716G>A (p.Trp239Ter) | COSMIC |
17 | g.6425783A= | CA2245347069 | AIPL1 | c.832T= (p.Trp278=) c.643T= (p.Trp215=) c.*704T= (n.*704T=) c.766T= (p.Trp256=) c.251+8136T= c.796T= (p.Trp266=) c.*803T= (n.*803T=) c.652T= (p.Trp218=) c.760T= (p.Trp254=) c.715T= (p.Trp239=) | |
17 | g.6425783A>C | CA397394834 | AIPL1 | c.832T>G (p.Trp278Gly) c.643T>G (p.Trp215Gly) c.*704T>G (n.*704T>G) c.766T>G (p.Trp256Gly) c.251+8136T>G c.796T>G (p.Trp266Gly) c.*803T>G (n.*803T>G) c.652T>G (p.Trp218Gly) c.760T>G (p.Trp254Gly) c.715T>G (p.Trp239Gly) | |
17 | g.6425783A>G | CA397394835 | AIPL1 | c.832T>C (p.Trp278Arg) c.643T>C (p.Trp215Arg) c.*704T>C (n.*704T>C) c.766T>C (p.Trp256Arg) c.251+8136T>C c.796T>C (p.Trp266Arg) c.*803T>C (n.*803T>C) c.652T>C (p.Trp218Arg) c.760T>C (p.Trp254Arg) c.715T>C (p.Trp239Arg) | dbSNP gnomAD v2 |
17 | g.6425783A>T | CA397394836 | AIPL1 | c.832T>A (p.Trp278Arg) c.643T>A (p.Trp215Arg) c.*704T>A (n.*704T>A) c.766T>A (p.Trp256Arg) c.251+8136T>A c.796T>A (p.Trp266Arg) c.*803T>A (n.*803T>A) c.652T>A (p.Trp218Arg) c.760T>A (p.Trp254Arg) c.715T>A (p.Trp239Arg) | |
17 | g.6425784C>A | CA497687457 | AIPL1 | c.831G>T (p.Val277=) c.642G>T (p.Val214=) c.*703G>T (n.*703G>T) c.765G>T (p.Val255=) c.251+8135G>T c.795G>T (p.Val265=) c.*802G>T (n.*802G>T) c.651G>T (p.Val217=) c.759G>T (p.Val253=) c.714G>T (p.Val238=) | |
17 | g.6425784C= | CA2245347071 | AIPL1 | c.831G= (p.Val277=) c.642G= (p.Val214=) c.*703G= (n.*703G=) c.765G= (p.Val255=) c.251+8135G= c.795G= (p.Val265=) c.*802G= (n.*802G=) c.651G= (p.Val217=) c.759G= (p.Val253=) c.714G= (p.Val238=) | |
17 | g.6425784C>G | CA497687456 | AIPL1 | c.831G>C (p.Val277=) c.642G>C (p.Val214=) c.*703G>C (n.*703G>C) c.765G>C (p.Val255=) c.251+8135G>C c.795G>C (p.Val265=) c.*802G>C (n.*802G>C) c.651G>C (p.Val217=) c.759G>C (p.Val253=) c.714G>C (p.Val238=) | |
17 | g.6425784C>T | CA497687455 | AIPL1 | c.831G>A (p.Val277=) c.642G>A (p.Val214=) c.*703G>A (n.*703G>A) c.765G>A (p.Val255=) c.251+8135G>A c.795G>A (p.Val265=) c.*802G>A (n.*802G>A) c.651G>A (p.Val217=) c.759G>A (p.Val253=) c.714G>A (p.Val238=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425785A>C | CA397394837 | AIPL1 | c.830T>G (p.Val277Gly) c.641T>G (p.Val214Gly) c.*702T>G (n.*702T>G) c.764T>G (p.Val255Gly) c.251+8134T>G c.794T>G (p.Val265Gly) c.*801T>G (n.*801T>G) c.650T>G (p.Val217Gly) c.758T>G (p.Val253Gly) c.713T>G (p.Val238Gly) | |
17 | g.6425785A>G | CA397394838 | AIPL1 | c.830T>C (p.Val277Ala) c.641T>C (p.Val214Ala) c.*702T>C (n.*702T>C) c.764T>C (p.Val255Ala) c.251+8134T>C c.794T>C (p.Val265Ala) c.*801T>C (n.*801T>C) c.650T>C (p.Val217Ala) c.758T>C (p.Val253Ala) c.713T>C (p.Val238Ala) | |
17 | g.6425785A>T | CA397394839 | AIPL1 | c.830T>A (p.Val277Glu) c.641T>A (p.Val214Glu) c.*702T>A (n.*702T>A) c.764T>A (p.Val255Glu) c.251+8134T>A c.794T>A (p.Val265Glu) c.*801T>A (n.*801T>A) c.650T>A (p.Val217Glu) c.758T>A (p.Val253Glu) c.713T>A (p.Val238Glu) | |
17 | g.6425786C>A | CA397394840 | AIPL1 | c.829G>T (p.Val277Leu) c.640G>T (p.Val214Leu) c.*701G>T (n.*701G>T) c.763G>T (p.Val255Leu) c.251+8133G>T c.793G>T (p.Val265Leu) c.*800G>T (n.*800G>T) c.649G>T (p.Val217Leu) c.757G>T (p.Val253Leu) c.712G>T (p.Val238Leu) | gnomAD v4 |
17 | g.6425786C>G | CA397394841 | AIPL1 | c.829G>C (p.Val277Leu) c.640G>C (p.Val214Leu) c.*701G>C (n.*701G>C) c.763G>C (p.Val255Leu) c.251+8133G>C c.793G>C (p.Val265Leu) c.*800G>C (n.*800G>C) c.649G>C (p.Val217Leu) c.757G>C (p.Val253Leu) c.712G>C (p.Val238Leu) | |
17 | g.6425786C>T | CA397394842 | AIPL1 | c.829G>A (p.Val277Met) c.640G>A (p.Val214Met) c.*701G>A (n.*701G>A) c.763G>A (p.Val255Met) c.251+8133G>A c.793G>A (p.Val265Met) c.*800G>A (n.*800G>A) c.649G>A (p.Val217Met) c.757G>A (p.Val253Met) c.712G>A (p.Val238Met) | |
17 | g.6425787C>A | CA397394843 | AIPL1 | c.828G>T (p.Glu276Asp) c.639G>T (p.Glu213Asp) c.*700G>T (n.*700G>T) c.762G>T (p.Glu254Asp) c.251+8132G>T c.792G>T (p.Glu264Asp) c.*799G>T (n.*799G>T) c.648G>T (p.Glu216Asp) c.756G>T (p.Glu252Asp) c.711G>T (p.Glu237Asp) | gnomAD v4 |
17 | g.6425787C= | CA2245347074 | AIPL1 | c.828G= (p.Glu276=) c.639G= (p.Glu213=) c.*700G= (n.*700G=) c.762G= (p.Glu254=) c.251+8132G= c.792G= (p.Glu264=) c.*799G= (n.*799G=) c.648G= (p.Glu216=) c.756G= (p.Glu252=) c.711G= (p.Glu237=) | |
17 | g.6425787C>G | CA8328371 | AIPL1 | c.828G>C (p.Glu276Asp) c.639G>C (p.Glu213Asp) c.*700G>C (n.*700G>C) c.762G>C (p.Glu254Asp) c.251+8132G>C c.792G>C (p.Glu264Asp) c.*799G>C (n.*799G>C) c.648G>C (p.Glu216Asp) c.756G>C (p.Glu252Asp) c.711G>C (p.Glu237Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425787C>T | CA497687458 | AIPL1 | c.828G>A (p.Glu276=) c.639G>A (p.Glu213=) c.*700G>A (n.*700G>A) c.762G>A (p.Glu254=) c.251+8132G>A c.792G>A (p.Glu264=) c.*799G>A (n.*799G>A) c.648G>A (p.Glu216=) c.756G>A (p.Glu252=) c.711G>A (p.Glu237=) | |
17 | g.6425788T>A | CA397394844 | AIPL1 | c.827A>T (p.Glu276Val) c.638A>T (p.Glu213Val) c.*699A>T (n.*699A>T) c.761A>T (p.Glu254Val) c.251+8131A>T c.791A>T (p.Glu264Val) c.*798A>T (n.*798A>T) c.647A>T (p.Glu216Val) c.755A>T (p.Glu252Val) c.710A>T (p.Glu237Val) | |
17 | g.6425788T>C | CA397394845 | AIPL1 | c.827A>G (p.Glu276Gly) c.638A>G (p.Glu213Gly) c.*699A>G (n.*699A>G) c.761A>G (p.Glu254Gly) c.251+8131A>G c.791A>G (p.Glu264Gly) c.*798A>G (n.*798A>G) c.647A>G (p.Glu216Gly) c.755A>G (p.Glu252Gly) c.710A>G (p.Glu237Gly) | |
17 | g.6425788T>G | CA397394846 | AIPL1 | c.827A>C (p.Glu276Ala) c.638A>C (p.Glu213Ala) c.*699A>C (n.*699A>C) c.761A>C (p.Glu254Ala) c.251+8131A>C c.791A>C (p.Glu264Ala) c.*798A>C (n.*798A>C) c.647A>C (p.Glu216Ala) c.755A>C (p.Glu252Ala) c.710A>C (p.Glu237Ala) |