| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6425681T>A | CA397394616 | AIPL1 | c.934A>T (p.Met312Leu) c.745A>T (p.Met249Leu) c.*806A>T (n.*806A>T) c.868A>T (p.Met290Leu) c.251+8238A>T c.898A>T (p.Met300Leu) c.*905A>T (n.*905A>T) c.754A>T (p.Met252Leu) c.862A>T (p.Met288Leu) c.933A>T (p.Ala311=) c.817A>T (p.Met273Leu) | |
| 17 | g.6425681T>C | CA397394617 | AIPL1 | c.934A>G (p.Met312Val) c.745A>G (p.Met249Val) c.*806A>G (n.*806A>G) c.868A>G (p.Met290Val) c.251+8238A>G c.898A>G (p.Met300Val) c.*905A>G (n.*905A>G) c.754A>G (p.Met252Val) c.862A>G (p.Met288Val) c.933A>G (p.Ala311=) c.817A>G (p.Met273Val) | gnomAD v4 |
| 17 | g.6425681T>G | CA397394618 | AIPL1 | c.934A>C (p.Met312Leu) c.745A>C (p.Met249Leu) c.*806A>C (n.*806A>C) c.868A>C (p.Met290Leu) c.251+8238A>C c.898A>C (p.Met300Leu) c.*905A>C (n.*905A>C) c.754A>C (p.Met252Leu) c.862A>C (p.Met288Leu) c.933A>C (p.Ala311=) c.817A>C (p.Met273Leu) | ClinVar dbSNP |
| 17 | g.6425682G>A | CA397394620 | AIPL1 | c.933C>T (p.Arg311=) c.744C>T (p.Arg248=) c.*805C>T (n.*805C>T) c.867C>T (p.Arg289=) c.251+8237C>T c.897C>T (p.Arg299=) c.*904C>T (n.*904C>T) c.753C>T (p.Arg251=) c.861C>T (p.Arg287=) c.932C>T (p.Ala311Val) c.816C>T (p.Arg272=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425682G>C | CA397394621 | AIPL1 | c.933C>G (p.Arg311=) c.744C>G (p.Arg248=) c.*805C>G (n.*805C>G) c.867C>G (p.Arg289=) c.251+8237C>G c.897C>G (p.Arg299=) c.*904C>G (n.*904C>G) c.753C>G (p.Arg251=) c.861C>G (p.Arg287=) c.932C>G (p.Ala311Gly) c.816C>G (p.Arg272=) | |
| 17 | g.6425682G= | CA2245346952 | AIPL1 | c.933C= (p.Arg311=) c.744C= (p.Arg248=) c.*805C= (n.*805C=) c.867C= (p.Arg289=) c.251+8237C= c.897C= (p.Arg299=) c.*904C= (n.*904C=) c.753C= (p.Arg251=) c.861C= (p.Arg287=) c.932C= (p.Ala311=) c.816C= (p.Arg272=) | |
| 17 | g.6425682G>T | CA397394619 | AIPL1 | c.933C>A (p.Arg311=) c.744C>A (p.Arg248=) c.*805C>A (n.*805C>A) c.867C>A (p.Arg289=) c.251+8237C>A c.897C>A (p.Arg299=) c.*904C>A (n.*904C>A) c.753C>A (p.Arg251=) c.861C>A (p.Arg287=) c.932C>A (p.Ala311Glu) c.816C>A (p.Arg272=) | |
| 17 | g.6425683C>A | CA397394622 | AIPL1 | c.932G>T (p.Arg311Leu) c.743G>T (p.Arg248Leu) c.*804G>T (n.*804G>T) c.866G>T (p.Arg289Leu) c.251+8236G>T c.896G>T (p.Arg299Leu) c.*903G>T (n.*903G>T) c.752G>T (p.Arg251Leu) c.860G>T (p.Arg287Leu) c.931G>T (p.Ala311Ser) c.815G>T (p.Arg272Leu) | dbSNP gnomAD v4 |
| 17 | g.6425683C= | CA2245346954 | AIPL1 | c.932G= (p.Arg311=) c.743G= (p.Arg248=) c.*804G= (n.*804G=) c.866G= (p.Arg289=) c.251+8236G= c.896G= (p.Arg299=) c.*903G= (n.*903G=) c.752G= (p.Arg251=) c.860G= (p.Arg287=) c.931G= (p.Ala311=) c.815G= (p.Arg272=) | |
| 17 | g.6425683C>G | CA397394623 | AIPL1 | c.932G>C (p.Arg311Pro) c.743G>C (p.Arg248Pro) c.*804G>C (n.*804G>C) c.866G>C (p.Arg289Pro) c.251+8236G>C c.896G>C (p.Arg299Pro) c.*903G>C (n.*903G>C) c.752G>C (p.Arg251Pro) c.860G>C (p.Arg287Pro) c.931G>C (p.Ala311Pro) c.815G>C (p.Arg272Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425683C>T | CA397394624 | AIPL1 | c.932G>A (p.Arg311His) c.743G>A (p.Arg248His) c.*804G>A (n.*804G>A) c.866G>A (p.Arg289His) c.251+8236G>A c.896G>A (p.Arg299His) c.*903G>A (n.*903G>A) c.752G>A (p.Arg251His) c.860G>A (p.Arg287His) c.931G>A (p.Ala311Thr) c.815G>A (p.Arg272His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.6425684G>A | CA8328353 | AIPL1 | c.931C>T (p.Arg311Cys) c.742C>T (p.Arg248Cys) c.*803C>T (n.*803C>T) c.865C>T (p.Arg289Cys) c.251+8235C>T c.895C>T (p.Arg299Cys) c.*902C>T (n.*902C>T) c.751C>T (p.Arg251Cys) c.859C>T (p.Arg287Cys) c.931-1C>T (n.931-1C>T) c.814C>T (p.Arg272Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425684G>C | CA397394625 | AIPL1 | c.931C>G (p.Arg311Gly) c.742C>G (p.Arg248Gly) c.*803C>G (n.*803C>G) c.865C>G (p.Arg289Gly) c.251+8235C>G c.895C>G (p.Arg299Gly) c.*902C>G (n.*902C>G) c.751C>G (p.Arg251Gly) c.859C>G (p.Arg287Gly) c.931-1C>G (n.931-1C>G) c.814C>G (p.Arg272Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.6425684G= | CA2245346956 | AIPL1 | c.931C= (p.Arg311=) c.742C= (p.Arg248=) c.*803C= (n.*803C=) c.865C= (p.Arg289=) c.251+8235C= c.895C= (p.Arg299=) c.*902C= (n.*902C=) c.751C= (p.Arg251=) c.859C= (p.Arg287=) c.931-1C= (n.931-1C=) c.814C= (p.Arg272=) | |
| 17 | g.6425684G>T | CA397394626 | AIPL1 | c.931C>A (p.Arg311Ser) c.742C>A (p.Arg248Ser) c.*803C>A (n.*803C>A) c.865C>A (p.Arg289Ser) c.251+8235C>A c.895C>A (p.Arg299Ser) c.*902C>A (n.*902C>A) c.751C>A (p.Arg251Ser) c.859C>A (p.Arg287Ser) c.931-1C>A (n.931-1C>A) c.814C>A (p.Arg272Ser) | dbSNP |
| 17 | g.6425685G>A | CA397394627 | AIPL1 | c.930C>T (p.Asn310=) c.741C>T (p.Asn247=) c.*802C>T (n.*802C>T) c.864C>T (p.Asn288=) c.251+8234C>T c.894C>T (p.Asn298=) c.*901C>T (n.*901C>T) c.750C>T (p.Asn250=) c.858C>T (p.Asn286=) c.813C>T (p.Asn271=) | |
| 17 | g.6425685G>C | CA397394628 | AIPL1 | c.930C>G (p.Asn310Lys) c.741C>G (p.Asn247Lys) c.*802C>G (n.*802C>G) c.864C>G (p.Asn288Lys) c.251+8234C>G c.894C>G (p.Asn298Lys) c.*901C>G (n.*901C>G) c.750C>G (p.Asn250Lys) c.858C>G (p.Asn286Lys) c.813C>G (p.Asn271Lys) | |
| 17 | g.6425685G>T | CA397394629 | AIPL1 | c.930C>A (p.Asn310Lys) c.741C>A (p.Asn247Lys) c.*802C>A (n.*802C>A) c.864C>A (p.Asn288Lys) c.251+8234C>A c.894C>A (p.Asn298Lys) c.*901C>A (n.*901C>A) c.750C>A (p.Asn250Lys) c.858C>A (p.Asn286Lys) c.813C>A (p.Asn271Lys) | gnomAD v4 |
| 17 | g.6425686T>A | CA397394630 | AIPL1 | c.929A>T (p.Asn310Ile) c.740A>T (p.Asn247Ile) c.*801A>T (n.*801A>T) c.863A>T (p.Asn288Ile) c.251+8233A>T c.893A>T (p.Asn298Ile) c.*900A>T (n.*900A>T) c.749A>T (p.Asn250Ile) c.857A>T (p.Asn286Ile) c.812A>T (p.Asn271Ile) | |
| 17 | g.6425686T>C | CA397394631 | AIPL1 | c.929A>G (p.Asn310Ser) c.740A>G (p.Asn247Ser) c.*801A>G (n.*801A>G) c.863A>G (p.Asn288Ser) c.251+8233A>G c.893A>G (p.Asn298Ser) c.*900A>G (n.*900A>G) c.749A>G (p.Asn250Ser) c.857A>G (p.Asn286Ser) c.812A>G (p.Asn271Ser) | |
| 17 | g.6425686T>G | CA397394632 | AIPL1 | c.929A>C (p.Asn310Thr) c.740A>C (p.Asn247Thr) c.*801A>C (n.*801A>C) c.863A>C (p.Asn288Thr) c.251+8233A>C c.893A>C (p.Asn298Thr) c.*900A>C (n.*900A>C) c.749A>C (p.Asn250Thr) c.857A>C (p.Asn286Thr) c.812A>C (p.Asn271Thr) | |
| 17 | g.6425687dup | CA2635688840 | AIPL1 | c.929dup (p.Asn310LysfsTer?) c.740dup (p.Asn247LysfsTer?) c.*801dup (n.*801dup) c.863dup (p.Asn288LysfsTer?) c.251+8233dup c.893dup (p.Asn298LysfsTer?) c.*900dup (n.*900dup) c.749dup (p.Asn250LysfsTer?) c.857dup (p.Asn286LysfsTer?) c.812dup (p.Asn271LysfsTer?) | gnomAD v4 |
| 17 | g.6425687T>A | CA397394634 | AIPL1 | c.928A>T (p.Asn310Tyr) c.739A>T (p.Asn247Tyr) c.*800A>T (n.*800A>T) c.862A>T (p.Asn288Tyr) c.251+8232A>T c.892A>T (p.Asn298Tyr) c.*899A>T (n.*899A>T) c.748A>T (p.Asn250Tyr) c.856A>T (p.Asn286Tyr) c.811A>T (p.Asn271Tyr) | |
| 17 | g.6425687T>C | CA397394635 | AIPL1 | c.928A>G (p.Asn310Asp) c.739A>G (p.Asn247Asp) c.*800A>G (n.*800A>G) c.862A>G (p.Asn288Asp) c.251+8232A>G c.892A>G (p.Asn298Asp) c.*899A>G (n.*899A>G) c.748A>G (p.Asn250Asp) c.856A>G (p.Asn286Asp) c.811A>G (p.Asn271Asp) | |
| 17 | g.6425687T>G | CA397394633 | AIPL1 | c.928A>C (p.Asn310His) c.739A>C (p.Asn247His) c.*800A>C (n.*800A>C) c.862A>C (p.Asn288His) c.251+8232A>C c.892A>C (p.Asn298His) c.*899A>C (n.*899A>C) c.748A>C (p.Asn250His) c.856A>C (p.Asn286His) c.811A>C (p.Asn271His) | |
| 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) |