Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6425504_6425599dup | CA2635688832 | AIPL1 | c.1030_1125dup (p.Pro375_Pro376insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.841_936dup (p.Pro312_Pro313insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*902_*997dup (n.*902_*997dup) c.964_1059dup (p.Pro353_Pro354insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.251+8334_251+8429dup c.994_1089dup (p.Pro363_Pro364insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*1001_*1096dup (n.*1001_*1096dup) c.850_945dup (p.Pro315_Pro316insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.958_1053dup (p.Pro351_Pro352insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) c.*48_*143dup (n.*48_*143dup) c.913_1008dup (p.Pro336_Pro337insAlaGlnSerSerThrGluProProAlaGluProProThrAlaProSerAlaGluLeuSerAlaGlyProProAlaGluProAlaThrGluProPro) | gnomAD v4 |
17 | g.6425576_6425599dup | CA624859136 | AIPL1 | c.1029_1052dup (p.Pro351_Ala352insAlaGlnSerSerThrGluProPro) c.840_863dup (p.Pro288_Ala289insAlaGlnSerSerThrGluProPro) c.*901_*924dup (n.*901_*924dup) c.963_986dup (p.Pro329_Ala330insAlaGlnSerSerThrGluProPro) c.251+8333_251+8356dup c.993_1016dup (p.Pro339_Ala340insAlaGlnSerSerThrGluProPro) c.*1000_*1023dup (n.*1000_*1023dup) c.849_872dup (p.Pro291_Ala292insAlaGlnSerSerThrGluProPro) c.957_980dup (p.Pro327_Ala328insAlaGlnSerSerThrGluProPro) c.*47_*70dup (n.*47_*70dup) c.912_935dup (p.Pro312_Ala313insAlaGlnSerSerThrGluProPro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425576_6425599del | CA8328322 | AIPL1 | c.1029_1052del (p.Ala344_Pro351del) c.840_863del (p.Ala281_Pro288del) c.*901_*924del (n.*901_*924del) c.963_986del (p.Ala322_Pro329del) c.251+8333_251+8356del c.993_1016del (p.Ala332_Pro339del) c.*1000_*1023del (n.*1000_*1023del) c.849_872del (p.Ala284_Pro291del) c.957_980del (p.Ala320_Pro327del) c.*47_*70del (n.*47_*70del) c.912_935del (p.Ala305_Pro312del) | dbSNP ExAC |
17 | g.6425576_6425611dup | CA624859139 | AIPL1 | c.1006_1041dup (p.Ser347_Thr348insAlaGluProProThrGluProProAlaGlnSerSer) c.817_852dup (p.Ser284_Thr285insAlaGluProProThrGluProProAlaGlnSerSer) c.*878_*913dup (n.*878_*913dup) c.940_975dup (p.Ser325_Thr326insAlaGluProProThrGluProProAlaGlnSerSer) c.251+8310_251+8345dup c.970_1005dup (p.Ser335_Thr336insAlaGluProProThrGluProProAlaGlnSerSer) c.*977_*1012dup (n.*977_*1012dup) c.826_861dup (p.Ser287_Thr288insAlaGluProProThrGluProProAlaGlnSerSer) c.934_969dup (p.Ser323_Thr324insAlaGluProProThrGluProProAlaGlnSerSer) c.*24_*59dup (n.*24_*59dup) c.889_924dup (p.Ser308_Thr309insAlaGluProProThrGluProProAlaGlnSerSer) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425597_6425608dup | CA2635688838 | AIPL1 | c.1018_1029dup (p.Pro343_Ala344insThrGluProPro) c.829_840dup (p.Pro280_Ala281insThrGluProPro) c.*890_*901dup (n.*890_*901dup) c.952_963dup (p.Pro321_Ala322insThrGluProPro) c.251+8322_251+8333dup c.982_993dup (p.Pro331_Ala332insThrGluProPro) c.*989_*1000dup (n.*989_*1000dup) c.838_849dup (p.Pro283_Ala284insThrGluProPro) c.946_957dup (p.Pro319_Ala320insThrGluProPro) c.*36_*47dup (n.*36_*47dup) c.901_912dup (p.Pro304_Ala305insThrGluProPro) | gnomAD v4 |
17 | g.6425597_6425608del | CA2527199511 | AIPL1 | c.1018_1029del (p.Thr340_Pro343del) c.829_840del (p.Thr277_Pro280del) c.*890_*901del (n.*890_*901del) c.952_963del (p.Thr318_Pro321del) c.251+8322_251+8333del c.982_993del (p.Thr328_Pro331del) c.*989_*1000del (n.*989_*1000del) c.838_849del (p.Thr280_Pro283del) c.946_957del (p.Thr316_Pro319del) c.*36_*47del (n.*36_*47del) c.901_912del (p.Thr301_Pro304del) | gnomAD v4 |
17 | g.6425594_6425595del | CA2841981214 | AIPL1 | c.1022_1023del (p.Glu341AlafsTer?) c.833_834del (p.Glu278AlafsTer?) c.*894_*895del (n.*894_*895del) c.956_957del (p.Glu319AlafsTer?) c.251+8326_251+8327del c.986_987del (p.Glu329AlafsTer?) c.*993_*994del (n.*993_*994del) c.842_843del (p.Glu281AlafsTer?) c.950_951del (p.Glu317AlafsTer?) c.*40_*41del (n.*40_*41del) c.905_906del (p.Glu302AlafsTer?) | |
17 | g.6425594C>A | CA397394416 | AIPL1 | c.1021G>T (p.Glu341Ter) c.832G>T (p.Glu278Ter) c.*893G>T (n.*893G>T) c.955G>T (p.Glu319Ter) c.251+8325G>T c.985G>T (p.Glu329Ter) c.*992G>T (n.*992G>T) c.841G>T (p.Glu281Ter) c.949G>T (p.Glu317Ter) c.*39G>T (n.*39G>T) c.904G>T (p.Glu302Ter) | COSMIC |
17 | g.6425594C>G | CA397394417 | AIPL1 | c.1021G>C (p.Glu341Gln) c.832G>C (p.Glu278Gln) c.*893G>C (n.*893G>C) c.955G>C (p.Glu319Gln) c.251+8325G>C c.985G>C (p.Glu329Gln) c.*992G>C (n.*992G>C) c.841G>C (p.Glu281Gln) c.949G>C (p.Glu317Gln) c.*39G>C (n.*39G>C) c.904G>C (p.Glu302Gln) | |
17 | g.6425594C>T | CA397394418 | AIPL1 | c.1021G>A (p.Glu341Lys) c.832G>A (p.Glu278Lys) c.*893G>A (n.*893G>A) c.955G>A (p.Glu319Lys) c.251+8325G>A c.985G>A (p.Glu329Lys) c.*992G>A (n.*992G>A) c.841G>A (p.Glu281Lys) c.949G>A (p.Glu317Lys) c.*39G>A (n.*39G>A) c.904G>A (p.Glu302Lys) | |
17 | g.6425595T>A | CA497687372 | AIPL1 | c.1020A>T (p.Thr340=) c.831A>T (p.Thr277=) c.*892A>T (n.*892A>T) c.954A>T (p.Thr318=) c.251+8324A>T c.984A>T (p.Thr328=) c.*991A>T (n.*991A>T) c.840A>T (p.Thr280=) c.948A>T (p.Thr316=) c.*38A>T (n.*38A>T) c.903A>T (p.Thr301=) | |
17 | g.6425595T>C | CA497687370 | AIPL1 | c.1020A>G (p.Thr340=) c.831A>G (p.Thr277=) c.*892A>G (n.*892A>G) c.954A>G (p.Thr318=) c.251+8324A>G c.984A>G (p.Thr328=) c.*991A>G (n.*991A>G) c.840A>G (p.Thr280=) c.948A>G (p.Thr316=) c.*38A>G (n.*38A>G) c.903A>G (p.Thr301=) | |
17 | g.6425595T>G | CA497687371 | AIPL1 | c.1020A>C (p.Thr340=) c.831A>C (p.Thr277=) c.*892A>C (n.*892A>C) c.954A>C (p.Thr318=) c.251+8324A>C c.984A>C (p.Thr328=) c.*991A>C (n.*991A>C) c.840A>C (p.Thr280=) c.948A>C (p.Thr316=) c.*38A>C (n.*38A>C) c.903A>C (p.Thr301=) | |
17 | g.6425596G>A | CA397394419 | AIPL1 | c.1019C>T (p.Thr340Ile) c.830C>T (p.Thr277Ile) c.*891C>T (n.*891C>T) c.953C>T (p.Thr318Ile) c.251+8323C>T c.983C>T (p.Thr328Ile) c.*990C>T (n.*990C>T) c.839C>T (p.Thr280Ile) c.947C>T (p.Thr316Ile) c.*37C>T (n.*37C>T) c.902C>T (p.Thr301Ile) | |
17 | g.6425596G>C | CA397394420 | AIPL1 | c.1019C>G (p.Thr340Arg) c.830C>G (p.Thr277Arg) c.*891C>G (n.*891C>G) c.953C>G (p.Thr318Arg) c.251+8323C>G c.983C>G (p.Thr328Arg) c.*990C>G (n.*990C>G) c.839C>G (p.Thr280Arg) c.947C>G (p.Thr316Arg) c.*37C>G (n.*37C>G) c.902C>G (p.Thr301Arg) | |
17 | g.6425596G= | CA2245346764 | AIPL1 | c.1019C= (p.Thr340=) c.830C= (p.Thr277=) c.*891C= (n.*891C=) c.953C= (p.Thr318=) c.251+8323C= c.983C= (p.Thr328=) c.*990C= (n.*990C=) c.839C= (p.Thr280=) c.947C= (p.Thr316=) c.*37C= (n.*37C=) c.902C= (p.Thr301=) | |
17 | g.6425596G>T | CA8328329 | AIPL1 | c.1019C>A (p.Thr340Lys) c.830C>A (p.Thr277Lys) c.*891C>A (n.*891C>A) c.953C>A (p.Thr318Lys) c.251+8323C>A c.983C>A (p.Thr328Lys) c.*990C>A (n.*990C>A) c.839C>A (p.Thr280Lys) c.947C>A (p.Thr316Lys) c.*37C>A (n.*37C>A) c.902C>A (p.Thr301Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425597T>A | CA397394421 | AIPL1 | c.1018A>T (p.Thr340Ser) c.829A>T (p.Thr277Ser) c.*890A>T (n.*890A>T) c.952A>T (p.Thr318Ser) c.251+8322A>T c.982A>T (p.Thr328Ser) c.*989A>T (n.*989A>T) c.838A>T (p.Thr280Ser) c.946A>T (p.Thr316Ser) c.*36A>T (n.*36A>T) c.901A>T (p.Thr301Ser) | |
17 | g.6425597T>C | CA397394422 | AIPL1 | c.1018A>G (p.Thr340Ala) c.829A>G (p.Thr277Ala) c.*890A>G (n.*890A>G) c.952A>G (p.Thr318Ala) c.251+8322A>G c.982A>G (p.Thr328Ala) c.*989A>G (n.*989A>G) c.838A>G (p.Thr280Ala) c.946A>G (p.Thr316Ala) c.*36A>G (n.*36A>G) c.901A>G (p.Thr301Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425597T>G | CA397394423 | AIPL1 | c.1018A>C (p.Thr340Pro) c.829A>C (p.Thr277Pro) c.*890A>C (n.*890A>C) c.952A>C (p.Thr318Pro) c.251+8322A>C c.982A>C (p.Thr328Pro) c.*989A>C (n.*989A>C) c.838A>C (p.Thr280Pro) c.946A>C (p.Thr316Pro) c.*36A>C (n.*36A>C) c.901A>C (p.Thr301Pro) | |
17 | g.6425597T= | CA2245346769 | AIPL1 | c.1018A= (p.Thr340=) c.829A= (p.Thr277=) c.*890A= (n.*890A=) c.952A= (p.Thr318=) c.251+8322A= c.982A= (p.Thr328=) c.*989A= (n.*989A=) c.838A= (p.Thr280=) c.946A= (p.Thr316=) c.*36A= (n.*36A=) c.901A= (p.Thr301=) | |
17 | g.6425597_6425609delinsTGGGTGGCTCTGC | CA2245346768 | AIPL1 | c.1006_1018delinsGCAGAGCCACCCA (p.Ala336=) c.817_829delinsGCAGAGCCACCCA (p.Ala273=) c.*878_*890delinsGCAGAGCCACCCA (n.*878_*890delinsGCAGAGCCACCCA) c.940_952delinsGCAGAGCCACCCA (p.Ala314=) c.251+8310_251+8322delinsGCAGAGCCACCCA c.970_982delinsGCAGAGCCACCCA (p.Ala324=) c.*977_*989delinsGCAGAGCCACCCA (n.*977_*989delinsGCAGAGCCACCCA) c.826_838delinsGCAGAGCCACCCA (p.Ala276=) c.934_946delinsGCAGAGCCACCCA (p.Ala312=) c.*24_*36delinsGCAGAGCCACCCA (n.*24_*36delinsGCAGAGCCACCCA) c.889_901delinsGCAGAGCCACCCA (p.Ala297=) | |
17 | g.6425598G>A | CA497687373 | AIPL1 | c.1017C>T (p.Pro339=) c.828C>T (p.Pro276=) c.*889C>T (n.*889C>T) c.951C>T (p.Pro317=) c.251+8321C>T c.981C>T (p.Pro327=) c.*988C>T (n.*988C>T) c.837C>T (p.Pro279=) c.945C>T (p.Pro315=) c.*35C>T (n.*35C>T) c.900C>T (p.Pro300=) | gnomAD v4 |
17 | g.6425598G>C | CA497687374 | AIPL1 | c.1017C>G (p.Pro339=) c.828C>G (p.Pro276=) c.*889C>G (n.*889C>G) c.951C>G (p.Pro317=) c.251+8321C>G c.981C>G (p.Pro327=) c.*988C>G (n.*988C>G) c.837C>G (p.Pro279=) c.945C>G (p.Pro315=) c.*35C>G (n.*35C>G) c.900C>G (p.Pro300=) | |
17 | g.6425598G>T | CA497687375 | AIPL1 | c.1017C>A (p.Pro339=) c.828C>A (p.Pro276=) c.*889C>A (n.*889C>A) c.951C>A (p.Pro317=) c.251+8321C>A c.981C>A (p.Pro327=) c.*988C>A (n.*988C>A) c.837C>A (p.Pro279=) c.945C>A (p.Pro315=) c.*35C>A (n.*35C>A) c.900C>A (p.Pro300=) | gnomAD v4 |
17 | g.6425600del | CA2841981215 | AIPL1 | c.1017del (p.Thr340GlnfsTer?) c.828del (p.Thr277GlnfsTer?) c.*889del (n.*889del) c.951del (p.Thr318GlnfsTer?) c.251+8321del c.981del (p.Thr328GlnfsTer?) c.*988del (n.*988del) c.837del (p.Thr280GlnfsTer?) c.945del (p.Thr316GlnfsTer?) c.*35del (n.*35del) c.900del (p.Thr301GlnfsTer?) | |
17 | g.6425601_6425612dup | CA624859141 | AIPL1 | c.1006_1017dup (p.Pro339_Thr340insAlaGluProPro) c.817_828dup (p.Pro276_Thr277insAlaGluProPro) c.*878_*889dup (n.*878_*889dup) c.940_951dup (p.Pro317_Thr318insAlaGluProPro) c.251+8310_251+8321dup c.970_981dup (p.Pro327_Thr328insAlaGluProPro) c.*977_*988dup (n.*977_*988dup) c.826_837dup (p.Pro279_Thr280insAlaGluProPro) c.934_945dup (p.Pro315_Thr316insAlaGluProPro) c.*24_*35dup (n.*24_*35dup) c.889_900dup (p.Pro300_Thr301insAlaGluProPro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425601_6425612del | CA8328330 | AIPL1 | c.1006_1017del (p.Ala336_Pro339del) c.817_828del (p.Ala273_Pro276del) c.*878_*889del (n.*878_*889del) c.940_951del (p.Ala314_Pro317del) c.251+8310_251+8321del c.970_981del (p.Ala324_Pro327del) c.*977_*988del (n.*977_*988del) c.826_837del (p.Ala276_Pro279del) c.934_945del (p.Ala312_Pro315del) c.*24_*35del (n.*24_*35del) c.889_900del (p.Ala297_Pro300del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425599G>A | CA397394424 | AIPL1 | c.1016C>T (p.Pro339Leu) c.827C>T (p.Pro276Leu) c.*888C>T (n.*888C>T) c.950C>T (p.Pro317Leu) c.251+8320C>T c.980C>T (p.Pro327Leu) c.*987C>T (n.*987C>T) c.836C>T (p.Pro279Leu) c.944C>T (p.Pro315Leu) c.*34C>T (n.*34C>T) c.899C>T (p.Pro300Leu) | gnomAD v4 |
17 | g.6425599G>C | CA397394425 | AIPL1 | c.1016C>G (p.Pro339Arg) c.827C>G (p.Pro276Arg) c.*888C>G (n.*888C>G) c.950C>G (p.Pro317Arg) c.251+8320C>G c.980C>G (p.Pro327Arg) c.*987C>G (n.*987C>G) c.836C>G (p.Pro279Arg) c.944C>G (p.Pro315Arg) c.*34C>G (n.*34C>G) c.899C>G (p.Pro300Arg) | |
17 | g.6425599G= | CA2245346773 | AIPL1 | c.1016C= (p.Pro339=) c.827C= (p.Pro276=) c.*888C= (n.*888C=) c.950C= (p.Pro317=) c.251+8320C= c.980C= (p.Pro327=) c.*987C= (n.*987C=) c.836C= (p.Pro279=) c.944C= (p.Pro315=) c.*34C= (n.*34C=) c.899C= (p.Pro300=) | |
17 | g.6425599G>T | CA397394426 | AIPL1 | c.1016C>A (p.Pro339His) c.827C>A (p.Pro276His) c.*888C>A (n.*888C>A) c.950C>A (p.Pro317His) c.251+8320C>A c.980C>A (p.Pro327His) c.*987C>A (n.*987C>A) c.836C>A (p.Pro279His) c.944C>A (p.Pro315His) c.*34C>A (n.*34C>A) c.899C>A (p.Pro300His) | dbSNP |
17 | g.6425600G>A | CA397394428 | AIPL1 | c.1015C>T (p.Pro339Ser) c.826C>T (p.Pro276Ser) c.*887C>T (n.*887C>T) c.949C>T (p.Pro317Ser) c.251+8319C>T c.979C>T (p.Pro327Ser) c.*986C>T (n.*986C>T) c.835C>T (p.Pro279Ser) c.943C>T (p.Pro315Ser) c.*33C>T (n.*33C>T) c.898C>T (p.Pro300Ser) | dbSNP gnomAD v2 |
17 | g.6425600G>C | CA397394429 | AIPL1 | c.1015C>G (p.Pro339Ala) c.826C>G (p.Pro276Ala) c.*887C>G (n.*887C>G) c.949C>G (p.Pro317Ala) c.251+8319C>G c.979C>G (p.Pro327Ala) c.*986C>G (n.*986C>G) c.835C>G (p.Pro279Ala) c.943C>G (p.Pro315Ala) c.*33C>G (n.*33C>G) c.898C>G (p.Pro300Ala) | |
17 | g.6425600G= | CA2245346777 | AIPL1 | c.1015C= (p.Pro339=) c.826C= (p.Pro276=) c.*887C= (n.*887C=) c.949C= (p.Pro317=) c.251+8319C= c.979C= (p.Pro327=) c.*986C= (n.*986C=) c.835C= (p.Pro279=) c.943C= (p.Pro315=) c.*33C= (n.*33C=) c.898C= (p.Pro300=) | |
17 | g.6425600G>T | CA397394427 | AIPL1 | c.1015C>A (p.Pro339Thr) c.826C>A (p.Pro276Thr) c.*887C>A (n.*887C>A) c.949C>A (p.Pro317Thr) c.251+8319C>A c.979C>A (p.Pro327Thr) c.*986C>A (n.*986C>A) c.835C>A (p.Pro279Thr) c.943C>A (p.Pro315Thr) c.*33C>A (n.*33C>A) c.898C>A (p.Pro300Thr) | |
17 | g.6425601T>A | CA497687376 | AIPL1 | c.1014A>T (p.Pro338=) c.825A>T (p.Pro275=) c.*886A>T (n.*886A>T) c.948A>T (p.Pro316=) c.251+8318A>T c.978A>T (p.Pro326=) c.*985A>T (n.*985A>T) c.834A>T (p.Pro278=) c.942A>T (p.Pro314=) c.*32A>T (n.*32A>T) c.897A>T (p.Pro299=) | |
17 | g.6425601T>C | CA497687377 | AIPL1 | c.1014A>G (p.Pro338=) c.825A>G (p.Pro275=) c.*886A>G (n.*886A>G) c.948A>G (p.Pro316=) c.251+8318A>G c.978A>G (p.Pro326=) c.*985A>G (n.*985A>G) c.834A>G (p.Pro278=) c.942A>G (p.Pro314=) c.*32A>G (n.*32A>G) c.897A>G (p.Pro299=) | gnomAD v4 |
17 | g.6425601T>G | CA497687378 | AIPL1 | c.1014A>C (p.Pro338=) c.825A>C (p.Pro275=) c.*886A>C (n.*886A>C) c.948A>C (p.Pro316=) c.251+8318A>C c.978A>C (p.Pro326=) c.*985A>C (n.*985A>C) c.834A>C (p.Pro278=) c.942A>C (p.Pro314=) c.*32A>C (n.*32A>C) c.897A>C (p.Pro299=) | |
17 | g.6425602G>A | CA397394432 | AIPL1 | c.1013C>T (p.Pro338Leu) c.824C>T (p.Pro275Leu) c.*885C>T (n.*885C>T) c.947C>T (p.Pro316Leu) c.251+8317C>T c.977C>T (p.Pro326Leu) c.*984C>T (n.*984C>T) c.833C>T (p.Pro278Leu) c.941C>T (p.Pro314Leu) c.*31C>T (n.*31C>T) c.896C>T (p.Pro299Leu) | |
17 | g.6425602G>C | CA397394430 | AIPL1 | c.1013C>G (p.Pro338Arg) c.824C>G (p.Pro275Arg) c.*885C>G (n.*885C>G) c.947C>G (p.Pro316Arg) c.251+8317C>G c.977C>G (p.Pro326Arg) c.*984C>G (n.*984C>G) c.833C>G (p.Pro278Arg) c.941C>G (p.Pro314Arg) c.*31C>G (n.*31C>G) c.896C>G (p.Pro299Arg) | |
17 | g.6425602G>T | CA397394431 | AIPL1 | c.1013C>A (p.Pro338Gln) c.824C>A (p.Pro275Gln) c.*885C>A (n.*885C>A) c.947C>A (p.Pro316Gln) c.251+8317C>A c.977C>A (p.Pro326Gln) c.*984C>A (n.*984C>A) c.833C>A (p.Pro278Gln) c.941C>A (p.Pro314Gln) c.*31C>A (n.*31C>A) c.896C>A (p.Pro299Gln) | gnomAD v4 |
17 | g.6425603G>A | CA397394433 | AIPL1 | c.1012C>T (p.Pro338Ser) c.823C>T (p.Pro275Ser) c.*884C>T (n.*884C>T) c.946C>T (p.Pro316Ser) c.251+8316C>T c.976C>T (p.Pro326Ser) c.*983C>T (n.*983C>T) c.832C>T (p.Pro278Ser) c.940C>T (p.Pro314Ser) c.*30C>T (n.*30C>T) c.895C>T (p.Pro299Ser) | gnomAD v4 |
17 | g.6425603G>C | CA397394434 | AIPL1 | c.1012C>G (p.Pro338Ala) c.823C>G (p.Pro275Ala) c.*884C>G (n.*884C>G) c.946C>G (p.Pro316Ala) c.251+8316C>G c.976C>G (p.Pro326Ala) c.*983C>G (n.*983C>G) c.832C>G (p.Pro278Ala) c.940C>G (p.Pro314Ala) c.*30C>G (n.*30C>G) c.895C>G (p.Pro299Ala) | dbSNP |
17 | g.6425603G= | CA2245346781 | AIPL1 | c.1012C= (p.Pro338=) c.823C= (p.Pro275=) c.*884C= (n.*884C=) c.946C= (p.Pro316=) c.251+8316C= c.976C= (p.Pro326=) c.*983C= (n.*983C=) c.832C= (p.Pro278=) c.940C= (p.Pro314=) c.*30C= (n.*30C=) c.895C= (p.Pro299=) | |
17 | g.6425603G>T | CA8328331 | AIPL1 | c.1012C>A (p.Pro338Thr) c.823C>A (p.Pro275Thr) c.*884C>A (n.*884C>A) c.946C>A (p.Pro316Thr) c.251+8316C>A c.976C>A (p.Pro326Thr) c.*983C>A (n.*983C>A) c.832C>A (p.Pro278Thr) c.940C>A (p.Pro314Thr) c.*30C>A (n.*30C>A) c.895C>A (p.Pro299Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425603_6425605delinsGCT | CA2245346779 | AIPL1 | c.1010_1012delinsAGC (p.Glu337=) c.821_823delinsAGC (p.Glu274=) c.*882_*884delinsAGC (n.*882_*884delinsAGC) c.944_946delinsAGC (p.Glu315=) c.251+8314_251+8316delinsAGC c.974_976delinsAGC (p.Glu325=) c.*981_*983delinsAGC (n.*981_*983delinsAGC) c.830_832delinsAGC (p.Glu277=) c.938_940delinsAGC (p.Glu313=) c.*28_*30delinsAGC (n.*28_*30delinsAGC) c.893_895delinsAGC (p.Glu298=) | |
17 | g.6425604C>A | CA397394435 | AIPL1 | c.1011G>T (p.Glu337Asp) c.822G>T (p.Glu274Asp) c.*883G>T (n.*883G>T) c.945G>T (p.Glu315Asp) c.251+8315G>T c.975G>T (p.Glu325Asp) c.*982G>T (n.*982G>T) c.831G>T (p.Glu277Asp) c.939G>T (p.Glu313Asp) c.*29G>T (n.*29G>T) c.894G>T (p.Glu298Asp) | |
17 | g.6425604C>G | CA397394436 | AIPL1 | c.1011G>C (p.Glu337Asp) c.822G>C (p.Glu274Asp) c.*883G>C (n.*883G>C) c.945G>C (p.Glu315Asp) c.251+8315G>C c.975G>C (p.Glu325Asp) c.*982G>C (n.*982G>C) c.831G>C (p.Glu277Asp) c.939G>C (p.Glu313Asp) c.*29G>C (n.*29G>C) c.894G>C (p.Glu298Asp) | |
17 | g.6425604C>T | CA497687379 | AIPL1 | c.1011G>A (p.Glu337=) c.822G>A (p.Glu274=) c.*883G>A (n.*883G>A) c.945G>A (p.Glu315=) c.251+8315G>A c.975G>A (p.Glu325=) c.*982G>A (n.*982G>A) c.831G>A (p.Glu277=) c.939G>A (p.Glu313=) c.*29G>A (n.*29G>A) c.894G>A (p.Glu298=) | |
17 | g.6425606_6425607del | CA227863 | AIPL1 | c.1010_1011del (p.Glu337AlafsTer?) c.821_822del (p.Glu274AlafsTer?) c.*882_*883del (n.*882_*883del) c.944_945del (p.Glu315AlafsTer?) c.251+8314_251+8315del c.974_975del (p.Glu325AlafsTer?) c.*981_*982del (n.*981_*982del) c.830_831del (p.Glu277AlafsTer?) c.938_939del (p.Glu313AlafsTer?) c.*28_*29del (n.*28_*29del) c.893_894del (p.Glu298AlafsTer?) | ClinVar dbSNP |
17 | g.6425605T>A | CA397394437 | AIPL1 | c.1010A>T (p.Glu337Val) c.821A>T (p.Glu274Val) c.*882A>T (n.*882A>T) c.944A>T (p.Glu315Val) c.251+8314A>T c.974A>T (p.Glu325Val) c.*981A>T (n.*981A>T) c.830A>T (p.Glu277Val) c.938A>T (p.Glu313Val) c.*28A>T (n.*28A>T) c.893A>T (p.Glu298Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425605T>C | CA397394438 | AIPL1 | c.1010A>G (p.Glu337Gly) c.821A>G (p.Glu274Gly) c.*882A>G (n.*882A>G) c.944A>G (p.Glu315Gly) c.251+8314A>G c.974A>G (p.Glu325Gly) c.*981A>G (n.*981A>G) c.830A>G (p.Glu277Gly) c.938A>G (p.Glu313Gly) c.*28A>G (n.*28A>G) c.893A>G (p.Glu298Gly) | |
17 | g.6425605T>G | CA397394439 | AIPL1 | c.1010A>C (p.Glu337Ala) c.821A>C (p.Glu274Ala) c.*882A>C (n.*882A>C) c.944A>C (p.Glu315Ala) c.251+8314A>C c.974A>C (p.Glu325Ala) c.*981A>C (n.*981A>C) c.830A>C (p.Glu277Ala) c.938A>C (p.Glu313Ala) c.*28A>C (n.*28A>C) c.893A>C (p.Glu298Ala) | |
17 | g.6425605T= | CA2245346789 | AIPL1 | c.1010A= (p.Glu337=) c.821A= (p.Glu274=) c.*882A= (n.*882A=) c.944A= (p.Glu315=) c.251+8314A= c.974A= (p.Glu325=) c.*981A= (n.*981A=) c.830A= (p.Glu277=) c.938A= (p.Glu313=) c.*28A= (n.*28A=) c.893A= (p.Glu298=) | |
17 | g.6425606C>A | CA397394441 | AIPL1 | c.1009G>T (p.Glu337Ter) c.820G>T (p.Glu274Ter) c.*881G>T (n.*881G>T) c.943G>T (p.Glu315Ter) c.251+8313G>T c.973G>T (p.Glu325Ter) c.*980G>T (n.*980G>T) c.829G>T (p.Glu277Ter) c.937G>T (p.Glu313Ter) c.*27G>T (n.*27G>T) c.892G>T (p.Glu298Ter) | |
17 | g.6425606C= | CA2245346793 | AIPL1 | c.1009G= (p.Glu337=) c.820G= (p.Glu274=) c.*881G= (n.*881G=) c.943G= (p.Glu315=) c.251+8313G= c.973G= (p.Glu325=) c.*980G= (n.*980G=) c.829G= (p.Glu277=) c.937G= (p.Glu313=) c.*27G= (n.*27G=) c.892G= (p.Glu298=) | |
17 | g.6425606C>G | CA8328332 | AIPL1 | c.1009G>C (p.Glu337Gln) c.820G>C (p.Glu274Gln) c.*881G>C (n.*881G>C) c.943G>C (p.Glu315Gln) c.251+8313G>C c.973G>C (p.Glu325Gln) c.*980G>C (n.*980G>C) c.829G>C (p.Glu277Gln) c.937G>C (p.Glu313Gln) c.*27G>C (n.*27G>C) c.892G>C (p.Glu298Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425606C>T | CA397394440 | AIPL1 | c.1009G>A (p.Glu337Lys) c.820G>A (p.Glu274Lys) c.*881G>A (n.*881G>A) c.943G>A (p.Glu315Lys) c.251+8313G>A c.973G>A (p.Glu325Lys) c.*980G>A (n.*980G>A) c.829G>A (p.Glu277Lys) c.937G>A (p.Glu313Lys) c.*27G>A (n.*27G>A) c.892G>A (p.Glu298Lys) | |
17 | g.6425607T>A | CA497687380 | AIPL1 | c.1008A>T (p.Ala336=) c.819A>T (p.Ala273=) c.*880A>T (n.*880A>T) c.942A>T (p.Ala314=) c.251+8312A>T c.972A>T (p.Ala324=) c.*979A>T (n.*979A>T) c.828A>T (p.Ala276=) c.936A>T (p.Ala312=) c.*26A>T (n.*26A>T) c.891A>T (p.Ala297=) | |
17 | g.6425607T>C | CA497687381 | AIPL1 | c.1008A>G (p.Ala336=) c.819A>G (p.Ala273=) c.*880A>G (n.*880A>G) c.942A>G (p.Ala314=) c.251+8312A>G c.972A>G (p.Ala324=) c.*979A>G (n.*979A>G) c.828A>G (p.Ala276=) c.936A>G (p.Ala312=) c.*26A>G (n.*26A>G) c.891A>G (p.Ala297=) | |
17 | g.6425607T>G | CA497687382 | AIPL1 | c.1008A>C (p.Ala336=) c.819A>C (p.Ala273=) c.*880A>C (n.*880A>C) c.942A>C (p.Ala314=) c.251+8312A>C c.972A>C (p.Ala324=) c.*979A>C (n.*979A>C) c.828A>C (p.Ala276=) c.936A>C (p.Ala312=) c.*26A>C (n.*26A>C) c.891A>C (p.Ala297=) | |
17 | g.6425608G>A | CA397394442 | AIPL1 | c.1007C>T (p.Ala336Val) c.818C>T (p.Ala273Val) c.*879C>T (n.*879C>T) c.941C>T (p.Ala314Val) c.251+8311C>T c.971C>T (p.Ala324Val) c.*978C>T (n.*978C>T) c.827C>T (p.Ala276Val) c.935C>T (p.Ala312Val) c.*25C>T (n.*25C>T) c.890C>T (p.Ala297Val) | |
17 | g.6425608G>C | CA397394443 | AIPL1 | c.1007C>G (p.Ala336Gly) c.818C>G (p.Ala273Gly) c.*879C>G (n.*879C>G) c.941C>G (p.Ala314Gly) c.251+8311C>G c.971C>G (p.Ala324Gly) c.*978C>G (n.*978C>G) c.827C>G (p.Ala276Gly) c.935C>G (p.Ala312Gly) c.*25C>G (n.*25C>G) c.890C>G (p.Ala297Gly) | |
17 | g.6425608G>T | CA397394444 | AIPL1 | c.1007C>A (p.Ala336Glu) c.818C>A (p.Ala273Glu) c.*879C>A (n.*879C>A) c.941C>A (p.Ala314Glu) c.251+8311C>A c.971C>A (p.Ala324Glu) c.*978C>A (n.*978C>A) c.827C>A (p.Ala276Glu) c.935C>A (p.Ala312Glu) c.*25C>A (n.*25C>A) c.890C>A (p.Ala297Glu) | |
17 | g.6425609C>A | CA397394445 | AIPL1 | c.1006G>T (p.Ala336Ser) c.817G>T (p.Ala273Ser) c.*878G>T (n.*878G>T) c.940G>T (p.Ala314Ser) c.251+8310G>T c.970G>T (p.Ala324Ser) c.*977G>T (n.*977G>T) c.826G>T (p.Ala276Ser) c.934G>T (p.Ala312Ser) c.*24G>T (n.*24G>T) c.889G>T (p.Ala297Ser) | |
17 | g.6425609C= | CA2245346796 | AIPL1 | c.1006G= (p.Ala336=) c.817G= (p.Ala273=) c.*878G= (n.*878G=) c.940G= (p.Ala314=) c.251+8310G= c.970G= (p.Ala324=) c.*977G= (n.*977G=) c.826G= (p.Ala276=) c.934G= (p.Ala312=) c.*24G= (n.*24G=) c.889G= (p.Ala297=) | |
17 | g.6425609C>G | CA397394446 | AIPL1 | c.1006G>C (p.Ala336Pro) c.817G>C (p.Ala273Pro) c.*878G>C (n.*878G>C) c.940G>C (p.Ala314Pro) c.251+8310G>C c.970G>C (p.Ala324Pro) c.*977G>C (n.*977G>C) c.826G>C (p.Ala276Pro) c.934G>C (p.Ala312Pro) c.*24G>C (n.*24G>C) c.889G>C (p.Ala297Pro) | |
17 | g.6425609C>T | CA233457 | AIPL1 | c.1006G>A (p.Ala336Thr) c.817G>A (p.Ala273Thr) c.*878G>A (n.*878G>A) c.940G>A (p.Ala314Thr) c.251+8310G>A c.970G>A (p.Ala324Thr) c.*977G>A (n.*977G>A) c.826G>A (p.Ala276Thr) c.934G>A (p.Ala312Thr) c.*24G>A (n.*24G>A) c.889G>A (p.Ala297Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425609_6425610delinsCG | CA2245346801 | AIPL1 | c.1005_1006delinsCG (p.Pro335=) c.816_817delinsCG (p.Pro272=) c.*877_*878delinsCG (n.*877_*878delinsCG) c.939_940delinsCG (p.Pro313=) c.251+8309_251+8310delinsCG c.969_970delinsCG (p.Pro323=) c.*976_*977delinsCG (n.*976_*977delinsCG) c.825_826delinsCG (p.Pro275=) c.933_934delinsCG (p.Pro311=) c.*23_*24delinsCG (n.*23_*24delinsCG) c.888_889delinsCG (p.Pro296=) | |
17 | g.6425610G>A | CA8328333 | AIPL1 | c.1005C>T (p.Pro335=) c.816C>T (p.Pro272=) c.*877C>T (n.*877C>T) c.939C>T (p.Pro313=) c.251+8309C>T c.969C>T (p.Pro323=) c.*976C>T (n.*976C>T) c.825C>T (p.Pro275=) c.933C>T (p.Pro311=) c.*23C>T (n.*23C>T) c.888C>T (p.Pro296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425610G>C | CA497687383 | AIPL1 | c.1005C>G (p.Pro335=) c.816C>G (p.Pro272=) c.*877C>G (n.*877C>G) c.939C>G (p.Pro313=) c.251+8309C>G c.969C>G (p.Pro323=) c.*976C>G (n.*976C>G) c.825C>G (p.Pro275=) c.933C>G (p.Pro311=) c.*23C>G (n.*23C>G) c.888C>G (p.Pro296=) | |
17 | g.6425610G= | CA2245346805 | AIPL1 | c.1005C= (p.Pro335=) c.816C= (p.Pro272=) c.*877C= (n.*877C=) c.939C= (p.Pro313=) c.251+8309C= c.969C= (p.Pro323=) c.*976C= (n.*976C=) c.825C= (p.Pro275=) c.933C= (p.Pro311=) c.*23C= (n.*23C=) c.888C= (p.Pro296=) | |
17 | g.6425610G>T | CA497687384 | AIPL1 | c.1005C>A (p.Pro335=) c.816C>A (p.Pro272=) c.*877C>A (n.*877C>A) c.939C>A (p.Pro313=) c.251+8309C>A c.969C>A (p.Pro323=) c.*976C>A (n.*976C>A) c.825C>A (p.Pro275=) c.933C>A (p.Pro311=) c.*23C>A (n.*23C>A) c.888C>A (p.Pro296=) | gnomAD v4 |
17 | g.6425612del | CA774024786 | AIPL1 | c.1005del (p.Ala336GlnfsTer?) c.816del (p.Ala273GlnfsTer?) c.*877del (n.*877del) c.939del (p.Ala314GlnfsTer?) c.251+8309del c.969del (p.Ala324GlnfsTer?) c.*976del (n.*976del) c.825del (p.Ala276GlnfsTer?) c.933del (p.Ala312GlnfsTer?) c.*23del (n.*23del) c.888del (p.Ala297GlnfsTer?) | ClinVar dbSNP |
17 | g.6425611G>A | CA397394447 | AIPL1 | c.1004C>T (p.Pro335Leu) c.815C>T (p.Pro272Leu) c.*876C>T (n.*876C>T) c.938C>T (p.Pro313Leu) c.251+8308C>T c.968C>T (p.Pro323Leu) c.*975C>T (n.*975C>T) c.824C>T (p.Pro275Leu) c.932C>T (p.Pro311Leu) c.*22C>T (n.*22C>T) c.887C>T (p.Pro296Leu) | ClinVar |
17 | g.6425611G>C | CA397394448 | AIPL1 | c.1004C>G (p.Pro335Arg) c.815C>G (p.Pro272Arg) c.*876C>G (n.*876C>G) c.938C>G (p.Pro313Arg) c.251+8308C>G c.968C>G (p.Pro323Arg) c.*975C>G (n.*975C>G) c.824C>G (p.Pro275Arg) c.932C>G (p.Pro311Arg) c.*22C>G (n.*22C>G) c.887C>G (p.Pro296Arg) | |
17 | g.6425611G= | CA2245346811 | AIPL1 | c.1004C= (p.Pro335=) c.815C= (p.Pro272=) c.*876C= (n.*876C=) c.938C= (p.Pro313=) c.251+8308C= c.968C= (p.Pro323=) c.*975C= (n.*975C=) c.824C= (p.Pro275=) c.932C= (p.Pro311=) c.*22C= (n.*22C=) c.887C= (p.Pro296=) | |
17 | g.6425611G>T | CA279223 | AIPL1 | c.1004C>A (p.Pro335His) c.815C>A (p.Pro272His) c.*876C>A (n.*876C>A) c.938C>A (p.Pro313His) c.251+8308C>A c.968C>A (p.Pro323His) c.*975C>A (n.*975C>A) c.824C>A (p.Pro275His) c.932C>A (p.Pro311His) c.*22C>A (n.*22C>A) c.887C>A (p.Pro296His) | ClinVar dbSNP |
17 | g.6425612G>A | CA397394449 | AIPL1 | c.1003C>T (p.Pro335Ser) c.814C>T (p.Pro272Ser) c.*875C>T (n.*875C>T) c.937C>T (p.Pro313Ser) c.251+8307C>T c.967C>T (p.Pro323Ser) c.*974C>T (n.*974C>T) c.823C>T (p.Pro275Ser) c.931C>T (p.Pro311Ser) c.*21C>T (n.*21C>T) c.886C>T (p.Pro296Ser) | dbSNP |
17 | g.6425612G>C | CA397394450 | AIPL1 | c.1003C>G (p.Pro335Ala) c.814C>G (p.Pro272Ala) c.*875C>G (n.*875C>G) c.937C>G (p.Pro313Ala) c.251+8307C>G c.967C>G (p.Pro323Ala) c.*974C>G (n.*974C>G) c.823C>G (p.Pro275Ala) c.931C>G (p.Pro311Ala) c.*21C>G (n.*21C>G) c.886C>G (p.Pro296Ala) | |
17 | g.6425612G= | CA2245346815 | AIPL1 | c.1003C= (p.Pro335=) c.814C= (p.Pro272=) c.*875C= (n.*875C=) c.937C= (p.Pro313=) c.251+8307C= c.967C= (p.Pro323=) c.*974C= (n.*974C=) c.823C= (p.Pro275=) c.931C= (p.Pro311=) c.*21C= (n.*21C=) c.886C= (p.Pro296=) | |
17 | g.6425612G>T | CA397394451 | AIPL1 | c.1003C>A (p.Pro335Thr) c.814C>A (p.Pro272Thr) c.*875C>A (n.*875C>A) c.937C>A (p.Pro313Thr) c.251+8307C>A c.967C>A (p.Pro323Thr) c.*974C>A (n.*974C>A) c.823C>A (p.Pro275Thr) c.931C>A (p.Pro311Thr) c.*21C>A (n.*21C>A) c.886C>A (p.Pro296Thr) | gnomAD v4 |
17 | g.6425613A>C | CA497687386 | AIPL1 | c.1002T>G (p.Pro334=) c.813T>G (p.Pro271=) c.*874T>G (n.*874T>G) c.936T>G (p.Pro312=) c.251+8306T>G c.966T>G (p.Pro322=) c.*973T>G (n.*973T>G) c.822T>G (p.Pro274=) c.930T>G (p.Pro310=) c.*20T>G (n.*20T>G) c.885T>G (p.Pro295=) | ClinVar gnomAD v4 |
17 | g.6425613A>G | CA497687388 | AIPL1 | c.1002T>C (p.Pro334=) c.813T>C (p.Pro271=) c.*874T>C (n.*874T>C) c.936T>C (p.Pro312=) c.251+8306T>C c.966T>C (p.Pro322=) c.*973T>C (n.*973T>C) c.822T>C (p.Pro274=) c.930T>C (p.Pro310=) c.*20T>C (n.*20T>C) c.885T>C (p.Pro295=) | |
17 | g.6425613A>T | CA497687391 | AIPL1 | c.1002T>A (p.Pro334=) c.813T>A (p.Pro271=) c.*874T>A (n.*874T>A) c.936T>A (p.Pro312=) c.251+8306T>A c.966T>A (p.Pro322=) c.*973T>A (n.*973T>A) c.822T>A (p.Pro274=) c.930T>A (p.Pro310=) c.*20T>A (n.*20T>A) c.885T>A (p.Pro295=) | |
17 | g.6425614G>A | CA397394453 | AIPL1 | c.1001C>T (p.Pro334Leu) c.812C>T (p.Pro271Leu) c.*873C>T (n.*873C>T) c.935C>T (p.Pro312Leu) c.251+8305C>T c.965C>T (p.Pro322Leu) c.*972C>T (n.*972C>T) c.821C>T (p.Pro274Leu) c.929C>T (p.Pro310Leu) c.*19C>T (n.*19C>T) c.884C>T (p.Pro295Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425614G>C | CA397394454 | AIPL1 | c.1001C>G (p.Pro334Arg) c.812C>G (p.Pro271Arg) c.*873C>G (n.*873C>G) c.935C>G (p.Pro312Arg) c.251+8305C>G c.965C>G (p.Pro322Arg) c.*972C>G (n.*972C>G) c.821C>G (p.Pro274Arg) c.929C>G (p.Pro310Arg) c.*19C>G (n.*19C>G) c.884C>G (p.Pro295Arg) | |
17 | g.6425614G= | CA2245346818 | AIPL1 | c.1001C= (p.Pro334=) c.812C= (p.Pro271=) c.*873C= (n.*873C=) c.935C= (p.Pro312=) c.251+8305C= c.965C= (p.Pro322=) c.*972C= (n.*972C=) c.821C= (p.Pro274=) c.929C= (p.Pro310=) c.*19C= (n.*19C=) c.884C= (p.Pro295=) | |
17 | g.6425614G>T | CA397394452 | AIPL1 | c.1001C>A (p.Pro334His) c.812C>A (p.Pro271His) c.*873C>A (n.*873C>A) c.935C>A (p.Pro312His) c.251+8305C>A c.965C>A (p.Pro322His) c.*972C>A (n.*972C>A) c.821C>A (p.Pro274His) c.929C>A (p.Pro310His) c.*19C>A (n.*19C>A) c.884C>A (p.Pro295His) | |
17 | g.6425614_6425623del | CA2808334464 | AIPL1 | c.992_1001del (p.Ala331ValfsTer?) c.803_812del (p.Ala268ValfsTer?) c.*864_*873del (n.*864_*873del) c.926_935del (p.Ala309ValfsTer?) c.251+8296_251+8305del c.956_965del (p.Ala319ValfsTer?) c.*963_*972del (n.*963_*972del) c.812_821del (p.Ala271ValfsTer?) c.920_929del (p.Ala307ValfsTer?) c.*10_*19del (n.*10_*19del) c.875_884del (p.Ala292ValfsTer?) | |
17 | g.6425615G>A | CA397394455 | AIPL1 | c.1000C>T (p.Pro334Ser) c.811C>T (p.Pro271Ser) c.*872C>T (n.*872C>T) c.934C>T (p.Pro312Ser) c.251+8304C>T c.964C>T (p.Pro322Ser) c.*971C>T (n.*971C>T) c.820C>T (p.Pro274Ser) c.928C>T (p.Pro310Ser) c.*18C>T (n.*18C>T) c.883C>T (p.Pro295Ser) | dbSNP gnomAD v2 |
17 | g.6425615G>C | CA397394456 | AIPL1 | c.1000C>G (p.Pro334Ala) c.811C>G (p.Pro271Ala) c.*872C>G (n.*872C>G) c.934C>G (p.Pro312Ala) c.251+8304C>G c.964C>G (p.Pro322Ala) c.*971C>G (n.*971C>G) c.820C>G (p.Pro274Ala) c.928C>G (p.Pro310Ala) c.*18C>G (n.*18C>G) c.883C>G (p.Pro295Ala) | |
17 | g.6425615G= | CA2245346822 | AIPL1 | c.1000C= (p.Pro334=) c.811C= (p.Pro271=) c.*872C= (n.*872C=) c.934C= (p.Pro312=) c.251+8304C= c.964C= (p.Pro322=) c.*971C= (n.*971C=) c.820C= (p.Pro274=) c.928C= (p.Pro310=) c.*18C= (n.*18C=) c.883C= (p.Pro295=) | |
17 | g.6425615G>T | CA397394457 | AIPL1 | c.1000C>A (p.Pro334Thr) c.811C>A (p.Pro271Thr) c.*872C>A (n.*872C>A) c.934C>A (p.Pro312Thr) c.251+8304C>A c.964C>A (p.Pro322Thr) c.*971C>A (n.*971C>A) c.820C>A (p.Pro274Thr) c.928C>A (p.Pro310Thr) c.*18C>A (n.*18C>A) c.883C>A (p.Pro295Thr) | |
17 | g.6425616C>A | CA397394458 | AIPL1 | c.999G>T (p.Gln333His) c.810G>T (p.Gln270His) c.*871G>T (n.*871G>T) c.933G>T (p.Gln311His) c.251+8303G>T c.963G>T (p.Gln321His) c.*970G>T (n.*970G>T) c.819G>T (p.Gln273His) c.927G>T (p.Gln309His) c.*17G>T (n.*17G>T) c.882G>T (p.Gln294His) | |
17 | g.6425616C>G | CA397394459 | AIPL1 | c.999G>C (p.Gln333His) c.810G>C (p.Gln270His) c.*871G>C (n.*871G>C) c.933G>C (p.Gln311His) c.251+8303G>C c.963G>C (p.Gln321His) c.*970G>C (n.*970G>C) c.819G>C (p.Gln273His) c.927G>C (p.Gln309His) c.*17G>C (n.*17G>C) c.882G>C (p.Gln294His) | |
17 | g.6425616C>T | CA497687394 | AIPL1 | c.999G>A (p.Gln333=) c.810G>A (p.Gln270=) c.*871G>A (n.*871G>A) c.933G>A (p.Gln311=) c.251+8303G>A c.963G>A (p.Gln321=) c.*970G>A (n.*970G>A) c.819G>A (p.Gln273=) c.927G>A (p.Gln309=) c.*17G>A (n.*17G>A) c.882G>A (p.Gln294=) | gnomAD v4 |
17 | g.6425617T>A | CA397394460 | AIPL1 | c.998A>T (p.Gln333Leu) c.809A>T (p.Gln270Leu) c.*870A>T (n.*870A>T) c.932A>T (p.Gln311Leu) c.251+8302A>T c.962A>T (p.Gln321Leu) c.*969A>T (n.*969A>T) c.818A>T (p.Gln273Leu) c.926A>T (p.Gln309Leu) c.*16A>T (n.*16A>T) c.881A>T (p.Gln294Leu) | |
17 | g.6425617T>C | CA397394461 | AIPL1 | c.998A>G (p.Gln333Arg) c.809A>G (p.Gln270Arg) c.*870A>G (n.*870A>G) c.932A>G (p.Gln311Arg) c.251+8302A>G c.962A>G (p.Gln321Arg) c.*969A>G (n.*969A>G) c.818A>G (p.Gln273Arg) c.926A>G (p.Gln309Arg) c.*16A>G (n.*16A>G) c.881A>G (p.Gln294Arg) | gnomAD v4 |
17 | g.6425617T>G | CA397394462 | AIPL1 | c.998A>C (p.Gln333Pro) c.809A>C (p.Gln270Pro) c.*870A>C (n.*870A>C) c.932A>C (p.Gln311Pro) c.251+8302A>C c.962A>C (p.Gln321Pro) c.*969A>C (n.*969A>C) c.818A>C (p.Gln273Pro) c.926A>C (p.Gln309Pro) c.*16A>C (n.*16A>C) c.881A>C (p.Gln294Pro) | |
17 | g.6425618G>A | CA397394463 | AIPL1 | c.997C>T (p.Gln333Ter) c.808C>T (p.Gln270Ter) c.*869C>T (n.*869C>T) c.931C>T (p.Gln311Ter) c.251+8301C>T c.961C>T (p.Gln321Ter) c.*968C>T (n.*968C>T) c.817C>T (p.Gln273Ter) c.925C>T (p.Gln309Ter) c.*15C>T (n.*15C>T) c.880C>T (p.Gln294Ter) | dbSNP gnomAD v2 |
17 | g.6425618G>C | CA397394464 | AIPL1 | c.997C>G (p.Gln333Glu) c.808C>G (p.Gln270Glu) c.*869C>G (n.*869C>G) c.931C>G (p.Gln311Glu) c.251+8301C>G c.961C>G (p.Gln321Glu) c.*968C>G (n.*968C>G) c.817C>G (p.Gln273Glu) c.925C>G (p.Gln309Glu) c.*15C>G (n.*15C>G) c.880C>G (p.Gln294Glu) | |
17 | g.6425618G= | CA2245346824 | AIPL1 | c.997C= (p.Gln333=) c.808C= (p.Gln270=) c.*869C= (n.*869C=) c.931C= (p.Gln311=) c.251+8301C= c.961C= (p.Gln321=) c.*968C= (n.*968C=) c.817C= (p.Gln273=) c.925C= (p.Gln309=) c.*15C= (n.*15C=) c.880C= (p.Gln294=) | |
17 | g.6425618G>T | CA397394465 | AIPL1 | c.997C>A (p.Gln333Lys) c.808C>A (p.Gln270Lys) c.*869C>A (n.*869C>A) c.931C>A (p.Gln311Lys) c.251+8301C>A c.961C>A (p.Gln321Lys) c.*968C>A (n.*968C>A) c.817C>A (p.Gln273Lys) c.925C>A (p.Gln309Lys) c.*15C>A (n.*15C>A) c.880C>A (p.Gln294Lys) | |
17 | g.6425618_6425619insACTAACACT | CA2635688839 | AIPL1 | c.996_997insAGTGTTAGT (p.Thr332_Gln333insSerValSer) c.807_808insAGTGTTAGT (p.Thr269_Gln270insSerValSer) c.*868_*869insAGTGTTAGT (n.*868_*869insAGTGTTAGT) c.930_931insAGTGTTAGT (p.Thr310_Gln311insSerValSer) c.251+8300_251+8301insAGTGTTAGT c.960_961insAGTGTTAGT (p.Thr320_Gln321insSerValSer) c.*967_*968insAGTGTTAGT (n.*967_*968insAGTGTTAGT) c.816_817insAGTGTTAGT (p.Thr272_Gln273insSerValSer) c.924_925insAGTGTTAGT (p.Thr308_Gln309insSerValSer) c.*14_*15insAGTGTTAGT (n.*14_*15insAGTGTTAGT) c.879_880insAGTGTTAGT (p.Thr293_Gln294insSerValSer) | gnomAD v4 |
17 | g.6425619C>A | CA8328334 | AIPL1 | c.996G>T (p.Thr332=) c.807G>T (p.Thr269=) c.*868G>T (n.*868G>T) c.930G>T (p.Thr310=) c.251+8300G>T c.960G>T (p.Thr320=) c.*967G>T (n.*967G>T) c.816G>T (p.Thr272=) c.924G>T (p.Thr308=) c.*14G>T (n.*14G>T) c.879G>T (p.Thr293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425619C= | CA2245346827 | AIPL1 | c.996G= (p.Thr332=) c.807G= (p.Thr269=) c.*868G= (n.*868G=) c.930G= (p.Thr310=) c.251+8300G= c.960G= (p.Thr320=) c.*967G= (n.*967G=) c.816G= (p.Thr272=) c.924G= (p.Thr308=) c.*14G= (n.*14G=) c.879G= (p.Thr293=) | |
17 | g.6425619C>G | CA497687398 | AIPL1 | c.996G>C (p.Thr332=) c.807G>C (p.Thr269=) c.*868G>C (n.*868G>C) c.930G>C (p.Thr310=) c.251+8300G>C c.960G>C (p.Thr320=) c.*967G>C (n.*967G>C) c.816G>C (p.Thr272=) c.924G>C (p.Thr308=) c.*14G>C (n.*14G>C) c.879G>C (p.Thr293=) | |
17 | g.6425619C>T | CA497687399 | AIPL1 | c.996G>A (p.Thr332=) c.807G>A (p.Thr269=) c.*868G>A (n.*868G>A) c.930G>A (p.Thr310=) c.251+8300G>A c.960G>A (p.Thr320=) c.*967G>A (n.*967G>A) c.816G>A (p.Thr272=) c.924G>A (p.Thr308=) c.*14G>A (n.*14G>A) c.879G>A (p.Thr293=) | ClinVar gnomAD v4 |
17 | g.6425620G>A | CA287323767 | AIPL1 | c.995C>T (p.Thr332Met) c.806C>T (p.Thr269Met) c.*867C>T (n.*867C>T) c.929C>T (p.Thr310Met) c.251+8299C>T c.959C>T (p.Thr320Met) c.*966C>T (n.*966C>T) c.815C>T (p.Thr272Met) c.923C>T (p.Thr308Met) c.*13C>T (n.*13C>T) c.878C>T (p.Thr293Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425620G>C | CA8328335 | AIPL1 | c.995C>G (p.Thr332Arg) c.806C>G (p.Thr269Arg) c.*867C>G (n.*867C>G) c.929C>G (p.Thr310Arg) c.251+8299C>G c.959C>G (p.Thr320Arg) c.*966C>G (n.*966C>G) c.815C>G (p.Thr272Arg) c.923C>G (p.Thr308Arg) c.*13C>G (n.*13C>G) c.878C>G (p.Thr293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.6425620G= | CA2245346832 | AIPL1 | c.995C= (p.Thr332=) c.806C= (p.Thr269=) c.*867C= (n.*867C=) c.929C= (p.Thr310=) c.251+8299C= c.959C= (p.Thr320=) c.*966C= (n.*966C=) c.815C= (p.Thr272=) c.923C= (p.Thr308=) c.*13C= (n.*13C=) c.878C= (p.Thr293=) | |
17 | g.6425620G>T | CA397394466 | AIPL1 | c.995C>A (p.Thr332Lys) c.806C>A (p.Thr269Lys) c.*867C>A (n.*867C>A) c.929C>A (p.Thr310Lys) c.251+8299C>A c.959C>A (p.Thr320Lys) c.*966C>A (n.*966C>A) c.815C>A (p.Thr272Lys) c.923C>A (p.Thr308Lys) c.*13C>A (n.*13C>A) c.878C>A (p.Thr293Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425621T>A | CA397394467 | AIPL1 | c.994A>T (p.Thr332Ser) c.805A>T (p.Thr269Ser) c.*866A>T (n.*866A>T) c.928A>T (p.Thr310Ser) c.251+8298A>T c.958A>T (p.Thr320Ser) c.*965A>T (n.*965A>T) c.814A>T (p.Thr272Ser) c.922A>T (p.Thr308Ser) c.*12A>T (n.*12A>T) c.877A>T (p.Thr293Ser) | gnomAD v4 |
17 | g.6425621T>C | CA397394468 | AIPL1 | c.994A>G (p.Thr332Ala) c.805A>G (p.Thr269Ala) c.*866A>G (n.*866A>G) c.928A>G (p.Thr310Ala) c.251+8298A>G c.958A>G (p.Thr320Ala) c.*965A>G (n.*965A>G) c.814A>G (p.Thr272Ala) c.922A>G (p.Thr308Ala) c.*12A>G (n.*12A>G) c.877A>G (p.Thr293Ala) | |
17 | g.6425621T>G | CA397394469 | AIPL1 | c.994A>C (p.Thr332Pro) c.805A>C (p.Thr269Pro) c.*866A>C (n.*866A>C) c.928A>C (p.Thr310Pro) c.251+8298A>C c.958A>C (p.Thr320Pro) c.*965A>C (n.*965A>C) c.814A>C (p.Thr272Pro) c.922A>C (p.Thr308Pro) c.*12A>C (n.*12A>C) c.877A>C (p.Thr293Pro) | |
17 | g.6425622G>A | CA497687402 | AIPL1 | c.993C>T (p.Ala331=) c.804C>T (p.Ala268=) c.*865C>T (n.*865C>T) c.927C>T (p.Ala309=) c.251+8297C>T c.957C>T (p.Ala319=) c.*964C>T (n.*964C>T) c.813C>T (p.Ala271=) c.921C>T (p.Ala307=) c.*11C>T (n.*11C>T) c.876C>T (p.Ala292=) | |
17 | g.6425622G>C | CA497687403 | AIPL1 | c.993C>G (p.Ala331=) c.804C>G (p.Ala268=) c.*865C>G (n.*865C>G) c.927C>G (p.Ala309=) c.251+8297C>G c.957C>G (p.Ala319=) c.*964C>G (n.*964C>G) c.813C>G (p.Ala271=) c.921C>G (p.Ala307=) c.*11C>G (n.*11C>G) c.876C>G (p.Ala292=) | |
17 | g.6425622G>T | CA497687404 | AIPL1 | c.993C>A (p.Ala331=) c.804C>A (p.Ala268=) c.*865C>A (n.*865C>A) c.927C>A (p.Ala309=) c.251+8297C>A c.957C>A (p.Ala319=) c.*964C>A (n.*964C>A) c.813C>A (p.Ala271=) c.921C>A (p.Ala307=) c.*11C>A (n.*11C>A) c.876C>A (p.Ala292=) | |
17 | g.6425622_6425652dup | CA2573054547 | AIPL1 | c.963_993dup (p.Thr332AlafsTer?) c.774_804dup (p.Thr269AlafsTer?) c.*835_*865dup (n.*835_*865dup) c.897_927dup (p.Thr310AlafsTer?) c.251+8267_251+8297dup c.927_957dup (p.Thr320AlafsTer?) c.*934_*964dup (n.*934_*964dup) c.783_813dup (p.Thr272AlafsTer?) c.891_921dup (p.Thr308AlafsTer?) c.962_*11dup (n.962_*11dup) c.846_876dup (p.Thr293AlafsTer?) | ClinVar dbSNP |
17 | g.6425623G>A | CA397394470 | AIPL1 | c.992C>T (p.Ala331Val) c.803C>T (p.Ala268Val) c.*864C>T (n.*864C>T) c.926C>T (p.Ala309Val) c.251+8296C>T c.956C>T (p.Ala319Val) c.*963C>T (n.*963C>T) c.812C>T (p.Ala271Val) c.920C>T (p.Ala307Val) c.*10C>T (n.*10C>T) c.875C>T (p.Ala292Val) | |
17 | g.6425623G>C | CA397394471 | AIPL1 | c.992C>G (p.Ala331Gly) c.803C>G (p.Ala268Gly) c.*864C>G (n.*864C>G) c.926C>G (p.Ala309Gly) c.251+8296C>G c.956C>G (p.Ala319Gly) c.*963C>G (n.*963C>G) c.812C>G (p.Ala271Gly) c.920C>G (p.Ala307Gly) c.*10C>G (n.*10C>G) c.875C>G (p.Ala292Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425623G>T | CA397394472 | AIPL1 | c.992C>A (p.Ala331Asp) c.803C>A (p.Ala268Asp) c.*864C>A (n.*864C>A) c.926C>A (p.Ala309Asp) c.251+8296C>A c.956C>A (p.Ala319Asp) c.*963C>A (n.*963C>A) c.812C>A (p.Ala271Asp) c.920C>A (p.Ala307Asp) c.*10C>A (n.*10C>A) c.875C>A (p.Ala292Asp) | gnomAD v4 |
17 | g.6425624C>A | CA397394475 | AIPL1 | c.991G>T (p.Ala331Ser) c.802G>T (p.Ala268Ser) c.*863G>T (n.*863G>T) c.925G>T (p.Ala309Ser) c.251+8295G>T c.955G>T (p.Ala319Ser) c.*962G>T (n.*962G>T) c.811G>T (p.Ala271Ser) c.919G>T (p.Ala307Ser) c.*9G>T (n.*9G>T) c.874G>T (p.Ala292Ser) | |
17 | g.6425624C>G | CA397394473 | AIPL1 | c.991G>C (p.Ala331Pro) c.802G>C (p.Ala268Pro) c.*863G>C (n.*863G>C) c.925G>C (p.Ala309Pro) c.251+8295G>C c.955G>C (p.Ala319Pro) c.*962G>C (n.*962G>C) c.811G>C (p.Ala271Pro) c.919G>C (p.Ala307Pro) c.*9G>C (n.*9G>C) c.874G>C (p.Ala292Pro) | |
17 | g.6425624C>T | CA397394474 | AIPL1 | c.991G>A (p.Ala331Thr) c.802G>A (p.Ala268Thr) c.*863G>A (n.*863G>A) c.925G>A (p.Ala309Thr) c.251+8295G>A c.955G>A (p.Ala319Thr) c.*962G>A (n.*962G>A) c.811G>A (p.Ala271Thr) c.919G>A (p.Ala307Thr) c.*9G>A (n.*9G>A) c.874G>A (p.Ala292Thr) | gnomAD v4 |
17 | g.6425625A= | CA2245346840 | AIPL1 | c.990T= (p.Gly330=) c.801T= (p.Gly267=) c.*862T= (n.*862T=) c.924T= (p.Gly308=) c.251+8294T= c.954T= (p.Gly318=) c.*961T= (n.*961T=) c.810T= (p.Gly270=) c.918T= (p.Gly306=) c.*8T= (n.*8T=) c.873T= (p.Gly291=) | |
17 | g.6425625A>C | CA497687409 | AIPL1 | c.990T>G (p.Gly330=) c.801T>G (p.Gly267=) c.*862T>G (n.*862T>G) c.924T>G (p.Gly308=) c.251+8294T>G c.954T>G (p.Gly318=) c.*961T>G (n.*961T>G) c.810T>G (p.Gly270=) c.918T>G (p.Gly306=) c.*8T>G (n.*8T>G) c.873T>G (p.Gly291=) | |
17 | g.6425625A>G | CA497687408 | AIPL1 | c.990T>C (p.Gly330=) c.801T>C (p.Gly267=) c.*862T>C (n.*862T>C) c.924T>C (p.Gly308=) c.251+8294T>C c.954T>C (p.Gly318=) c.*961T>C (n.*961T>C) c.810T>C (p.Gly270=) c.918T>C (p.Gly306=) c.*8T>C (n.*8T>C) c.873T>C (p.Gly291=) | dbSNP |
17 | g.6425625A>T | CA497687406 | AIPL1 | c.990T>A (p.Gly330=) c.801T>A (p.Gly267=) c.*862T>A (n.*862T>A) c.924T>A (p.Gly308=) c.251+8294T>A c.954T>A (p.Gly318=) c.*961T>A (n.*961T>A) c.810T>A (p.Gly270=) c.918T>A (p.Gly306=) c.*8T>A (n.*8T>A) c.873T>A (p.Gly291=) | |
17 | g.6425626C>A | CA397394476 | AIPL1 | c.989G>T (p.Gly330Val) c.800G>T (p.Gly267Val) c.*861G>T (n.*861G>T) c.923G>T (p.Gly308Val) c.251+8293G>T c.953G>T (p.Gly318Val) c.*960G>T (n.*960G>T) c.809G>T (p.Gly270Val) c.917G>T (p.Gly306Val) c.*7G>T (n.*7G>T) c.872G>T (p.Gly291Val) | |
17 | g.6425626C= | CA2245346842 | AIPL1 | c.989G= (p.Gly330=) c.800G= (p.Gly267=) c.*861G= (n.*861G=) c.923G= (p.Gly308=) c.251+8293G= c.953G= (p.Gly318=) c.*960G= (n.*960G=) c.809G= (p.Gly270=) c.917G= (p.Gly306=) c.*7G= (n.*7G=) c.872G= (p.Gly291=) | |
17 | g.6425626C>G | CA397394477 | AIPL1 | c.989G>C (p.Gly330Ala) c.800G>C (p.Gly267Ala) c.*861G>C (n.*861G>C) c.923G>C (p.Gly308Ala) c.251+8293G>C c.953G>C (p.Gly318Ala) c.*960G>C (n.*960G>C) c.809G>C (p.Gly270Ala) c.917G>C (p.Gly306Ala) c.*7G>C (n.*7G>C) c.872G>C (p.Gly291Ala) | |
17 | g.6425626C>T | CA8328336 | AIPL1 | c.989G>A (p.Gly330Asp) c.800G>A (p.Gly267Asp) c.*861G>A (n.*861G>A) c.923G>A (p.Gly308Asp) c.251+8293G>A c.953G>A (p.Gly318Asp) c.*960G>A (n.*960G>A) c.809G>A (p.Gly270Asp) c.917G>A (p.Gly306Asp) c.*7G>A (n.*7G>A) c.872G>A (p.Gly291Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425627C>A | CA397394478 | AIPL1 | c.988G>T (p.Gly330Cys) c.799G>T (p.Gly267Cys) c.*860G>T (n.*860G>T) c.922G>T (p.Gly308Cys) c.251+8292G>T c.952G>T (p.Gly318Cys) c.*959G>T (n.*959G>T) c.808G>T (p.Gly270Cys) c.916G>T (p.Gly306Cys) c.*6G>T (n.*6G>T) c.871G>T (p.Gly291Cys) | |
17 | g.6425627C= | CA2245346845 | AIPL1 | c.988G= (p.Gly330=) c.799G= (p.Gly267=) c.*860G= (n.*860G=) c.922G= (p.Gly308=) c.251+8292G= c.952G= (p.Gly318=) c.*959G= (n.*959G=) c.808G= (p.Gly270=) c.916G= (p.Gly306=) c.*6G= (n.*6G=) c.871G= (p.Gly291=) | |
17 | g.6425627C>G | CA397394479 | AIPL1 | c.988G>C (p.Gly330Arg) c.799G>C (p.Gly267Arg) c.*860G>C (n.*860G>C) c.922G>C (p.Gly308Arg) c.251+8292G>C c.952G>C (p.Gly318Arg) c.*959G>C (n.*959G>C) c.808G>C (p.Gly270Arg) c.916G>C (p.Gly306Arg) c.*6G>C (n.*6G>C) c.871G>C (p.Gly291Arg) | |
17 | g.6425627C>T | CA8328337 | AIPL1 | c.988G>A (p.Gly330Ser) c.799G>A (p.Gly267Ser) c.*860G>A (n.*860G>A) c.922G>A (p.Gly308Ser) c.251+8292G>A c.952G>A (p.Gly318Ser) c.*959G>A (n.*959G>A) c.808G>A (p.Gly270Ser) c.916G>A (p.Gly306Ser) c.*6G>A (n.*6G>A) c.871G>A (p.Gly291Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425628C>A | CA397394481 | AIPL1 | c.987G>T (p.Gln329His) c.798G>T (p.Gln266His) c.*859G>T (n.*859G>T) c.921G>T (p.Gln307His) c.251+8291G>T c.951G>T (p.Gln317His) c.*958G>T (n.*958G>T) c.807G>T (p.Gln269His) c.915G>T (p.Gln305His) c.*5G>T (n.*5G>T) c.870G>T (p.Gln290His) | |
17 | g.6425628C>G | CA397394480 | AIPL1 | c.987G>C (p.Gln329His) c.798G>C (p.Gln266His) c.*859G>C (n.*859G>C) c.921G>C (p.Gln307His) c.251+8291G>C c.951G>C (p.Gln317His) c.*958G>C (n.*958G>C) c.807G>C (p.Gln269His) c.915G>C (p.Gln305His) c.*5G>C (n.*5G>C) c.870G>C (p.Gln290His) | |
17 | g.6425628C>T | CA497687414 | AIPL1 | c.987G>A (p.Gln329=) c.798G>A (p.Gln266=) c.*859G>A (n.*859G>A) c.921G>A (p.Gln307=) c.251+8291G>A c.951G>A (p.Gln317=) c.*958G>A (n.*958G>A) c.807G>A (p.Gln269=) c.915G>A (p.Gln305=) c.*5G>A (n.*5G>A) c.870G>A (p.Gln290=) | |
17 | g.6425629T>A | CA397394482 | AIPL1 | c.986A>T (p.Gln329Leu) c.797A>T (p.Gln266Leu) c.*858A>T (n.*858A>T) c.920A>T (p.Gln307Leu) c.251+8290A>T c.950A>T (p.Gln317Leu) c.*957A>T (n.*957A>T) c.806A>T (p.Gln269Leu) c.914A>T (p.Gln305Leu) c.*4A>T (n.*4A>T) c.869A>T (p.Gln290Leu) | |
17 | g.6425629T>C | CA397394484 | AIPL1 | c.986A>G (p.Gln329Arg) c.797A>G (p.Gln266Arg) c.*858A>G (n.*858A>G) c.920A>G (p.Gln307Arg) c.251+8290A>G c.950A>G (p.Gln317Arg) c.*957A>G (n.*957A>G) c.806A>G (p.Gln269Arg) c.914A>G (p.Gln305Arg) c.*4A>G (n.*4A>G) c.869A>G (p.Gln290Arg) | dbSNP |
17 | g.6425629T>G | CA397394483 | AIPL1 | c.986A>C (p.Gln329Pro) c.797A>C (p.Gln266Pro) c.*858A>C (n.*858A>C) c.920A>C (p.Gln307Pro) c.251+8290A>C c.950A>C (p.Gln317Pro) c.*957A>C (n.*957A>C) c.806A>C (p.Gln269Pro) c.914A>C (p.Gln305Pro) c.*4A>C (n.*4A>C) c.869A>C (p.Gln290Pro) | |
17 | g.6425629T= | CA2245346848 | AIPL1 | c.986A= (p.Gln329=) c.797A= (p.Gln266=) c.*858A= (n.*858A=) c.920A= (p.Gln307=) c.251+8290A= c.950A= (p.Gln317=) c.*957A= (n.*957A=) c.806A= (p.Gln269=) c.914A= (p.Gln305=) c.*4A= (n.*4A=) c.869A= (p.Gln290=) | |
17 | g.6425630G>A | CA397394485 | AIPL1 | c.985C>T (p.Gln329Ter) c.796C>T (p.Gln266Ter) c.*857C>T (n.*857C>T) c.919C>T (p.Gln307Ter) c.251+8289C>T c.949C>T (p.Gln317Ter) c.*956C>T (n.*956C>T) c.805C>T (p.Gln269Ter) c.913C>T (p.Gln305Ter) c.*3C>T (n.*3C>T) c.868C>T (p.Gln290Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425630G>C | CA397394486 | AIPL1 | c.985C>G (p.Gln329Glu) c.796C>G (p.Gln266Glu) c.*857C>G (n.*857C>G) c.919C>G (p.Gln307Glu) c.251+8289C>G c.949C>G (p.Gln317Glu) c.*956C>G (n.*956C>G) c.805C>G (p.Gln269Glu) c.913C>G (p.Gln305Glu) c.*3C>G (n.*3C>G) c.868C>G (p.Gln290Glu) | |
17 | g.6425630G= | CA2245346853 | AIPL1 | c.985C= (p.Gln329=) c.796C= (p.Gln266=) c.*857C= (n.*857C=) c.919C= (p.Gln307=) c.251+8289C= c.949C= (p.Gln317=) c.*956C= (n.*956C=) c.805C= (p.Gln269=) c.913C= (p.Gln305=) c.*3C= (n.*3C=) c.868C= (p.Gln290=) | |
17 | g.6425630G>T | CA397394487 | AIPL1 | c.985C>A (p.Gln329Lys) c.796C>A (p.Gln266Lys) c.*857C>A (n.*857C>A) c.919C>A (p.Gln307Lys) c.251+8289C>A c.949C>A (p.Gln317Lys) c.*956C>A (n.*956C>A) c.805C>A (p.Gln269Lys) c.913C>A (p.Gln305Lys) c.*3C>A (n.*3C>A) c.868C>A (p.Gln290Lys) | gnomAD v4 COSMIC |
17 | g.6425631G>A | CA497687417 | AIPL1 | c.984C>T (p.Ser328=) c.795C>T (p.Ser265=) c.*856C>T (n.*856C>T) c.918C>T (p.Ser306=) c.251+8288C>T c.948C>T (p.Ser316=) c.*955C>T (n.*955C>T) c.804C>T (p.Ser268=) c.912C>T (p.Ser304=) c.*2C>T (n.*2C>T) c.867C>T (p.Ser289=) | |
17 | g.6425631G>C | CA397394488 | AIPL1 | c.984C>G (p.Ser328Arg) c.795C>G (p.Ser265Arg) c.*856C>G (n.*856C>G) c.918C>G (p.Ser306Arg) c.251+8288C>G c.948C>G (p.Ser316Arg) c.*955C>G (n.*955C>G) c.804C>G (p.Ser268Arg) c.912C>G (p.Ser304Arg) c.*2C>G (n.*2C>G) c.867C>G (p.Ser289Arg) | |
17 | g.6425631G>T | CA397394489 | AIPL1 | c.984C>A (p.Ser328Arg) c.795C>A (p.Ser265Arg) c.*856C>A (n.*856C>A) c.918C>A (p.Ser306Arg) c.251+8288C>A c.948C>A (p.Ser316Arg) c.*955C>A (n.*955C>A) c.804C>A (p.Ser268Arg) c.912C>A (p.Ser304Arg) c.*2C>A (n.*2C>A) c.867C>A (p.Ser289Arg) | gnomAD v4 |
17 | g.6425632C>A | CA397394490 | AIPL1 | c.983G>T (p.Ser328Ile) c.794G>T (p.Ser265Ile) c.*855G>T (n.*855G>T) c.917G>T (p.Ser306Ile) c.251+8287G>T c.947G>T (p.Ser316Ile) c.*954G>T (n.*954G>T) c.803G>T (p.Ser268Ile) c.911G>T (p.Ser304Ile) c.*1G>T (n.*1G>T) c.866G>T (p.Ser289Ile) | gnomAD v4 |
17 | g.6425632C= | CA2245346858 | AIPL1 | c.983G= (p.Ser328=) c.794G= (p.Ser265=) c.*855G= (n.*855G=) c.917G= (p.Ser306=) c.251+8287G= c.947G= (p.Ser316=) c.*954G= (n.*954G=) c.803G= (p.Ser268=) c.911G= (p.Ser304=) c.*1G= (n.*1G=) c.866G= (p.Ser289=) | |
17 | g.6425632C>G | CA397394491 | AIPL1 | c.983G>C (p.Ser328Thr) c.794G>C (p.Ser265Thr) c.*855G>C (n.*855G>C) c.917G>C (p.Ser306Thr) c.251+8287G>C c.947G>C (p.Ser316Thr) c.*954G>C (n.*954G>C) c.803G>C (p.Ser268Thr) c.911G>C (p.Ser304Thr) c.*1G>C (n.*1G>C) c.866G>C (p.Ser289Thr) | ClinVar dbSNP |
17 | g.6425632C>T | CA397394492 | AIPL1 | c.983G>A (p.Ser328Asn) c.794G>A (p.Ser265Asn) c.*855G>A (n.*855G>A) c.917G>A (p.Ser306Asn) c.251+8287G>A c.947G>A (p.Ser316Asn) c.*954G>A (n.*954G>A) c.803G>A (p.Ser268Asn) c.911G>A (p.Ser304Asn) c.*1G>A (n.*1G>A) c.866G>A (p.Ser289Asn) | gnomAD v4 |
17 | g.6425633T>A | CA397394493 | AIPL1 | c.982A>T (p.Ser328Cys) c.793A>T (p.Ser265Cys) c.*854A>T (n.*854A>T) c.916A>T (p.Ser306Cys) c.251+8286A>T c.946A>T (p.Ser316Cys) c.*953A>T (n.*953A>T) c.802A>T (p.Ser268Cys) c.910A>T (p.Ser304Cys) c.981A>T (p.Ter327Cys) c.865A>T (p.Ser289Cys) | |
17 | g.6425633T>C | CA397394495 | AIPL1 | c.982A>G (p.Ser328Gly) c.793A>G (p.Ser265Gly) c.*854A>G (n.*854A>G) c.916A>G (p.Ser306Gly) c.251+8286A>G c.946A>G (p.Ser316Gly) c.*953A>G (n.*953A>G) c.802A>G (p.Ser268Gly) c.910A>G (p.Ser304Gly) c.981A>G (p.Ter327Trp) c.865A>G (p.Ser289Gly) | |
17 | g.6425633T>G | CA397394494 | AIPL1 | c.982A>C (p.Ser328Arg) c.793A>C (p.Ser265Arg) c.*854A>C (n.*854A>C) c.916A>C (p.Ser306Arg) c.251+8286A>C c.946A>C (p.Ser316Arg) c.*953A>C (n.*953A>C) c.802A>C (p.Ser268Arg) c.910A>C (p.Ser304Arg) c.981A>C (p.Ter327Cys) c.865A>C (p.Ser289Arg) | |
17 | g.6425634C>A | CA397394496 | AIPL1 | c.981G>T (p.Leu327=) c.792G>T (p.Leu264=) c.*853G>T (n.*853G>T) c.915G>T (p.Leu305=) c.251+8285G>T c.945G>T (p.Leu315=) c.*952G>T (n.*952G>T) c.801G>T (p.Leu267=) c.909G>T (p.Leu303=) c.980G>T (p.Ter327Leu) c.864G>T (p.Leu288=) | |
17 | g.6425634C= | CA2245346860 | AIPL1 | c.981G= (p.Leu327=) c.792G= (p.Leu264=) c.*853G= (n.*853G=) c.915G= (p.Leu305=) c.251+8285G= c.945G= (p.Leu315=) c.*952G= (n.*952G=) c.801G= (p.Leu267=) c.909G= (p.Leu303=) c.980G= (p.Ter327=) c.864G= (p.Leu288=) | |
17 | g.6425634C>G | CA397394497 | AIPL1 | c.981G>C (p.Leu327=) c.792G>C (p.Leu264=) c.*853G>C (n.*853G>C) c.915G>C (p.Leu305=) c.251+8285G>C c.945G>C (p.Leu315=) c.*952G>C (n.*952G>C) c.801G>C (p.Leu267=) c.909G>C (p.Leu303=) c.980G>C (p.Ter327Ser) c.864G>C (p.Leu288=) | |
17 | g.6425634C>T | CA497687418 | AIPL1 | c.981G>A (p.Leu327=) c.792G>A (p.Leu264=) c.*853G>A (n.*853G>A) c.915G>A (p.Leu305=) c.251+8285G>A c.945G>A (p.Leu315=) c.*952G>A (n.*952G>A) c.801G>A (p.Leu267=) c.909G>A (p.Leu303=) c.980G>A (p.Ter327=) c.864G>A (p.Leu288=) | ClinVar dbSNP |
17 | g.6425635A>C | CA397394498 | AIPL1 | c.980T>G (p.Leu327Arg) c.791T>G (p.Leu264Arg) c.*852T>G (n.*852T>G) c.914T>G (p.Leu305Arg) c.251+8284T>G c.944T>G (p.Leu315Arg) c.*951T>G (n.*951T>G) c.800T>G (p.Leu267Arg) c.908T>G (p.Leu303Arg) c.979T>G (p.Ter327Gly) c.863T>G (p.Leu288Arg) | |
17 | g.6425635A>G | CA397394499 | AIPL1 | c.980T>C (p.Leu327Pro) c.791T>C (p.Leu264Pro) c.*852T>C (n.*852T>C) c.914T>C (p.Leu305Pro) c.251+8284T>C c.944T>C (p.Leu315Pro) c.*951T>C (n.*951T>C) c.800T>C (p.Leu267Pro) c.908T>C (p.Leu303Pro) c.979T>C (p.Ter327Arg) c.863T>C (p.Leu288Pro) | |
17 | g.6425635A>T | CA397394500 | AIPL1 | c.980T>A (p.Leu327Gln) c.791T>A (p.Leu264Gln) c.*852T>A (n.*852T>A) c.914T>A (p.Leu305Gln) c.251+8284T>A c.944T>A (p.Leu315Gln) c.*951T>A (n.*951T>A) c.800T>A (p.Leu267Gln) c.908T>A (p.Leu303Gln) c.979T>A (p.Ter327Arg) c.863T>A (p.Leu288Gln) | |
17 | g.6425636G>A | CA287323771 | AIPL1 | c.979C>T (p.Leu327=) c.790C>T (p.Leu264=) c.*851C>T (n.*851C>T) c.913C>T (p.Leu305=) c.251+8283C>T c.943C>T (p.Leu315=) c.*950C>T (n.*950C>T) c.799C>T (p.Leu267=) c.907C>T (p.Leu303=) c.978C>T (p.Cys326=) c.862C>T (p.Leu288=) | dbSNP |
17 | g.6425636G>C | CA397394502 | AIPL1 | c.979C>G (p.Leu327Val) c.790C>G (p.Leu264Val) c.*851C>G (n.*851C>G) c.913C>G (p.Leu305Val) c.251+8283C>G c.943C>G (p.Leu315Val) c.*950C>G (n.*950C>G) c.799C>G (p.Leu267Val) c.907C>G (p.Leu303Val) c.978C>G (p.Cys326Trp) c.862C>G (p.Leu288Val) | |
17 | g.6425636G= | CA2245346863 | AIPL1 | c.979C= (p.Leu327=) c.790C= (p.Leu264=) c.*851C= (n.*851C=) c.913C= (p.Leu305=) c.251+8283C= c.943C= (p.Leu315=) c.*950C= (n.*950C=) c.799C= (p.Leu267=) c.907C= (p.Leu303=) c.978C= (p.Cys326=) c.862C= (p.Leu288=) | |
17 | g.6425636G>T | CA397394501 | AIPL1 | c.979C>A (p.Leu327Met) c.790C>A (p.Leu264Met) c.*851C>A (n.*851C>A) c.913C>A (p.Leu305Met) c.251+8283C>A c.943C>A (p.Leu315Met) c.*950C>A (n.*950C>A) c.799C>A (p.Leu267Met) c.907C>A (p.Leu303Met) c.978C>A (p.Cys326Ter) c.862C>A (p.Leu288Met) | gnomAD v4 |
17 | g.6425637C>A | CA397394503 | AIPL1 | c.978G>T (p.Met326Ile) c.789G>T (p.Met263Ile) c.*850G>T (n.*850G>T) c.912G>T (p.Met304Ile) c.251+8282G>T c.942G>T (p.Met314Ile) c.*949G>T (n.*949G>T) c.798G>T (p.Met266Ile) c.906G>T (p.Met302Ile) c.977G>T (p.Cys326Phe) c.861G>T (p.Met287Ile) | |
17 | g.6425637C>G | CA397394504 | AIPL1 | c.978G>C (p.Met326Ile) c.789G>C (p.Met263Ile) c.*850G>C (n.*850G>C) c.912G>C (p.Met304Ile) c.251+8282G>C c.942G>C (p.Met314Ile) c.*949G>C (n.*949G>C) c.798G>C (p.Met266Ile) c.906G>C (p.Met302Ile) c.977G>C (p.Cys326Ser) c.861G>C (p.Met287Ile) | |
17 | g.6425637C>T | CA397394505 | AIPL1 | c.978G>A (p.Met326Ile) c.789G>A (p.Met263Ile) c.*850G>A (n.*850G>A) c.912G>A (p.Met304Ile) c.251+8282G>A c.942G>A (p.Met314Ile) c.*949G>A (n.*949G>A) c.798G>A (p.Met266Ile) c.906G>A (p.Met302Ile) c.977G>A (p.Cys326Tyr) c.861G>A (p.Met287Ile) | |
17 | g.6425638A>C | CA397394506 | AIPL1 | c.977T>G (p.Met326Arg) c.788T>G (p.Met263Arg) c.*849T>G (n.*849T>G) c.911T>G (p.Met304Arg) c.251+8281T>G c.941T>G (p.Met314Arg) c.*948T>G (n.*948T>G) c.797T>G (p.Met266Arg) c.905T>G (p.Met302Arg) c.976T>G (p.Cys326Gly) c.860T>G (p.Met287Arg) | |
17 | g.6425638A>G | CA397394507 | AIPL1 | c.977T>C (p.Met326Thr) c.788T>C (p.Met263Thr) c.*849T>C (n.*849T>C) c.911T>C (p.Met304Thr) c.251+8281T>C c.941T>C (p.Met314Thr) c.*948T>C (n.*948T>C) c.797T>C (p.Met266Thr) c.905T>C (p.Met302Thr) c.976T>C (p.Cys326Arg) c.860T>C (p.Met287Thr) | gnomAD v4 |
17 | g.6425638A>T | CA397394508 | AIPL1 | c.977T>A (p.Met326Lys) c.788T>A (p.Met263Lys) c.*849T>A (n.*849T>A) c.911T>A (p.Met304Lys) c.251+8281T>A c.941T>A (p.Met314Lys) c.*948T>A (n.*948T>A) c.797T>A (p.Met266Lys) c.905T>A (p.Met302Lys) c.976T>A (p.Cys326Ser) c.860T>A (p.Met287Lys) | |
17 | g.6425639T>A | CA397394509 | AIPL1 | c.976A>T (p.Met326Leu) c.787A>T (p.Met263Leu) c.*848A>T (n.*848A>T) c.910A>T (p.Met304Leu) c.251+8280A>T c.940A>T (p.Met314Leu) c.*947A>T (n.*947A>T) c.796A>T (p.Met266Leu) c.904A>T (p.Met302Leu) c.975A>T (p.Thr325=) c.859A>T (p.Met287Leu) | |
17 | g.6425639T>C | CA397394510 | AIPL1 | c.976A>G (p.Met326Val) c.787A>G (p.Met263Val) c.*848A>G (n.*848A>G) c.910A>G (p.Met304Val) c.251+8280A>G c.940A>G (p.Met314Val) c.*947A>G (n.*947A>G) c.796A>G (p.Met266Val) c.904A>G (p.Met302Val) c.975A>G (p.Thr325=) c.859A>G (p.Met287Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425639T>G | CA397394511 | AIPL1 | c.976A>C (p.Met326Leu) c.787A>C (p.Met263Leu) c.*848A>C (n.*848A>C) c.910A>C (p.Met304Leu) c.251+8280A>C c.940A>C (p.Met314Leu) c.*947A>C (n.*947A>C) c.796A>C (p.Met266Leu) c.904A>C (p.Met302Leu) c.975A>C (p.Thr325=) c.859A>C (p.Met287Leu) | |
17 | g.6425639T= | CA2245346866 | AIPL1 | c.976A= (p.Met326=) c.787A= (p.Met263=) c.*848A= (n.*848A=) c.910A= (p.Met304=) c.251+8280A= c.940A= (p.Met314=) c.*947A= (n.*947A=) c.796A= (p.Met266=) c.904A= (p.Met302=) c.975A= (p.Thr325=) c.859A= (p.Met287=) | |
17 | g.6425640G>A | CA397394512 | AIPL1 | c.975C>T (p.Asn325=) c.786C>T (p.Asn262=) c.*847C>T (n.*847C>T) c.909C>T (p.Asn303=) c.251+8279C>T c.939C>T (p.Asn313=) c.*946C>T (n.*946C>T) c.795C>T (p.Asn265=) c.903C>T (p.Asn301=) c.974C>T (p.Thr325Ile) c.858C>T (p.Asn286=) | dbSNP |
17 | g.6425640G>C | CA397394513 | AIPL1 | c.975C>G (p.Asn325Lys) c.786C>G (p.Asn262Lys) c.*847C>G (n.*847C>G) c.909C>G (p.Asn303Lys) c.251+8279C>G c.939C>G (p.Asn313Lys) c.*946C>G (n.*946C>G) c.795C>G (p.Asn265Lys) c.903C>G (p.Asn301Lys) c.974C>G (p.Thr325Arg) c.858C>G (p.Asn286Lys) | |
17 | g.6425640G>T | CA397394514 | AIPL1 | c.975C>A (p.Asn325Lys) c.786C>A (p.Asn262Lys) c.*847C>A (n.*847C>A) c.909C>A (p.Asn303Lys) c.251+8279C>A c.939C>A (p.Asn313Lys) c.*946C>A (n.*946C>A) c.795C>A (p.Asn265Lys) c.903C>A (p.Asn301Lys) c.974C>A (p.Thr325Lys) c.858C>A (p.Asn286Lys) | gnomAD v4 |
17 | g.6425641T>A | CA397394515 | AIPL1 | c.974A>T (p.Asn325Ile) c.785A>T (p.Asn262Ile) c.*846A>T (n.*846A>T) c.908A>T (p.Asn303Ile) c.251+8278A>T c.938A>T (p.Asn313Ile) c.*945A>T (n.*945A>T) c.794A>T (p.Asn265Ile) c.902A>T (p.Asn301Ile) c.973A>T (p.Thr325Ser) c.857A>T (p.Asn286Ile) | |
17 | g.6425641T>C | CA397394517 | AIPL1 | c.974A>G (p.Asn325Ser) c.785A>G (p.Asn262Ser) c.*846A>G (n.*846A>G) c.908A>G (p.Asn303Ser) c.251+8278A>G c.938A>G (p.Asn313Ser) c.*945A>G (n.*945A>G) c.794A>G (p.Asn265Ser) c.902A>G (p.Asn301Ser) c.973A>G (p.Thr325Ala) c.857A>G (p.Asn286Ser) | gnomAD v4 |
17 | g.6425641T>G | CA397394516 | AIPL1 | c.974A>C (p.Asn325Thr) c.785A>C (p.Asn262Thr) c.*846A>C (n.*846A>C) c.908A>C (p.Asn303Thr) c.251+8278A>C c.938A>C (p.Asn313Thr) c.*945A>C (n.*945A>C) c.794A>C (p.Asn265Thr) c.902A>C (p.Asn301Thr) c.973A>C (p.Thr325Pro) c.857A>C (p.Asn286Thr) | |
17 | g.6425642T>A | CA397394518 | AIPL1 | c.973A>T (p.Asn325Tyr) c.784A>T (p.Asn262Tyr) c.*845A>T (n.*845A>T) c.907A>T (p.Asn303Tyr) c.251+8277A>T c.937A>T (p.Asn313Tyr) c.*944A>T (n.*944A>T) c.793A>T (p.Asn265Tyr) c.901A>T (p.Asn301Tyr) c.972A>T (p.Gly324=) c.856A>T (p.Asn286Tyr) | |
17 | g.6425642T>C | CA397394519 | AIPL1 | c.973A>G (p.Asn325Asp) c.784A>G (p.Asn262Asp) c.*845A>G (n.*845A>G) c.907A>G (p.Asn303Asp) c.251+8277A>G c.937A>G (p.Asn313Asp) c.*944A>G (n.*944A>G) c.793A>G (p.Asn265Asp) c.901A>G (p.Asn301Asp) c.972A>G (p.Gly324=) c.856A>G (p.Asn286Asp) | |
17 | g.6425642T>G | CA397394520 | AIPL1 | c.973A>C (p.Asn325His) c.784A>C (p.Asn262His) c.*845A>C (n.*845A>C) c.907A>C (p.Asn303His) c.251+8277A>C c.937A>C (p.Asn313His) c.*944A>C (n.*944A>C) c.793A>C (p.Asn265His) c.901A>C (p.Asn301His) c.972A>C (p.Gly324=) c.856A>C (p.Asn286His) | |
17 | g.6425642_6425643delinsTC | CA2245346869 | AIPL1 | c.972_973delinsGA (p.Arg324=) c.783_784delinsGA (p.Arg261=) c.*844_*845delinsGA (n.*844_*845delinsGA) c.906_907delinsGA (p.Arg302=) c.251+8276_251+8277delinsGA c.936_937delinsGA (p.Arg312=) c.*943_*944delinsGA (n.*943_*944delinsGA) c.792_793delinsGA (p.Arg264=) c.900_901delinsGA (p.Arg300=) c.971_972delinsGA (p.Gly324=) c.855_856delinsGA (p.Arg285=) | |
17 | g.6425643C>A | CA397394521 | AIPL1 | c.972G>T (p.Arg324=) c.783G>T (p.Arg261=) c.*844G>T (n.*844G>T) c.906G>T (p.Arg302=) c.251+8276G>T c.936G>T (p.Arg312=) c.*943G>T (n.*943G>T) c.792G>T (p.Arg264=) c.900G>T (p.Arg300=) c.971G>T (p.Gly324Val) c.855G>T (p.Arg285=) | ClinVar gnomAD v4 |
17 | g.6425643C= | CA2245346871 | AIPL1 | c.972G= (p.Arg324=) c.783G= (p.Arg261=) c.*844G= (n.*844G=) c.906G= (p.Arg302=) c.251+8276G= c.936G= (p.Arg312=) c.*943G= (n.*943G=) c.792G= (p.Arg264=) c.900G= (p.Arg300=) c.971G= (p.Gly324=) c.855G= (p.Arg285=) | |
17 | g.6425643C>G | CA397394522 | AIPL1 | c.972G>C (p.Arg324=) c.783G>C (p.Arg261=) c.*844G>C (n.*844G>C) c.906G>C (p.Arg302=) c.251+8276G>C c.936G>C (p.Arg312=) c.*943G>C (n.*943G>C) c.792G>C (p.Arg264=) c.900G>C (p.Arg300=) c.971G>C (p.Gly324Ala) c.855G>C (p.Arg285=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425643C>T | CA397394523 | AIPL1 | c.972G>A (p.Arg324=) c.783G>A (p.Arg261=) c.*844G>A (n.*844G>A) c.906G>A (p.Arg302=) c.251+8276G>A c.936G>A (p.Arg312=) c.*943G>A (n.*943G>A) c.792G>A (p.Arg264=) c.900G>A (p.Arg300=) c.971G>A (p.Gly324Glu) c.855G>A (p.Arg285=) | gnomAD v4 |
17 | g.6425644del | CA981100671 | AIPL1 | c.972del (p.Asn325ThrfsTer3) c.783del (p.Asn262ThrfsTer3) c.*844del (n.*844del) c.906del (p.Asn303ThrfsTer3) c.251+8276del c.936del (p.Asn313ThrfsTer3) c.*943del (n.*943del) c.792del (p.Asn265ThrfsTer3) c.900del (p.Asn301ThrfsTer3) c.971del (p.Gly324GlufsTer?) c.855del (p.Asn286ThrfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425644C>A | CA246741 | AIPL1 | c.971G>T (p.Arg324Leu) c.782G>T (p.Arg261Leu) c.*843G>T (n.*843G>T) c.905G>T (p.Arg302Leu) c.251+8275G>T c.935G>T (p.Arg312Leu) c.*942G>T (n.*942G>T) c.791G>T (p.Arg264Leu) c.899G>T (p.Arg300Leu) c.970G>T (p.Gly324Ter) c.854G>T (p.Arg285Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425644C= | CA2245346880 | AIPL1 | c.971G= (p.Arg324=) c.782G= (p.Arg261=) c.*843G= (n.*843G=) c.905G= (p.Arg302=) c.251+8275G= c.935G= (p.Arg312=) c.*942G= (n.*942G=) c.791G= (p.Arg264=) c.899G= (p.Arg300=) c.970G= (p.Gly324=) c.854G= (p.Arg285=) | |
17 | g.6425644C>G | CA397394524 | AIPL1 | c.971G>C (p.Arg324Pro) c.782G>C (p.Arg261Pro) c.*843G>C (n.*843G>C) c.905G>C (p.Arg302Pro) c.251+8275G>C c.935G>C (p.Arg312Pro) c.*942G>C (n.*942G>C) c.791G>C (p.Arg264Pro) c.899G>C (p.Arg300Pro) c.970G>C (p.Gly324Arg) c.854G>C (p.Arg285Pro) | gnomAD v4 |
17 | g.6425644C>T | CA8328338 | AIPL1 | c.971G>A (p.Arg324Gln) c.782G>A (p.Arg261Gln) c.*843G>A (n.*843G>A) c.905G>A (p.Arg302Gln) c.251+8275G>A c.935G>A (p.Arg312Gln) c.*942G>A (n.*942G>A) c.791G>A (p.Arg264Gln) c.899G>A (p.Arg300Gln) c.970G>A (p.Gly324Arg) c.854G>A (p.Arg285Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425645G>A | CA8328340 | AIPL1 | c.970C>T (p.Arg324Trp) c.781C>T (p.Arg261Trp) c.*842C>T (n.*842C>T) c.904C>T (p.Arg302Trp) c.251+8274C>T c.934C>T (p.Arg312Trp) c.*941C>T (n.*941C>T) c.790C>T (p.Arg264Trp) c.898C>T (p.Arg300Trp) c.969C>T (p.Ala323=) c.853C>T (p.Arg285Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425645G>C | CA397394525 | AIPL1 | c.970C>G (p.Arg324Gly) c.781C>G (p.Arg261Gly) c.*842C>G (n.*842C>G) c.904C>G (p.Arg302Gly) c.251+8274C>G c.934C>G (p.Arg312Gly) c.*941C>G (n.*941C>G) c.790C>G (p.Arg264Gly) c.898C>G (p.Arg300Gly) c.969C>G (p.Ala323=) c.853C>G (p.Arg285Gly) | |
17 | g.6425645G= | CA2245346888 | AIPL1 | c.970C= (p.Arg324=) c.781C= (p.Arg261=) c.*842C= (n.*842C=) c.904C= (p.Arg302=) c.251+8274C= c.934C= (p.Arg312=) c.*941C= (n.*941C=) c.790C= (p.Arg264=) c.898C= (p.Arg300=) c.969C= (p.Ala323=) c.853C= (p.Arg285=) | |
17 | g.6425645G>T | CA8328339 | AIPL1 | c.970C>A (p.Arg324=) c.781C>A (p.Arg261=) c.*842C>A (n.*842C>A) c.904C>A (p.Arg302=) c.251+8274C>A c.934C>A (p.Arg312=) c.*941C>A (n.*941C>A) c.790C>A (p.Arg264=) c.898C>A (p.Arg300=) c.969C>A (p.Ala323=) c.853C>A (p.Arg285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425646G>A | CA8328341 | AIPL1 | c.969C>T (p.Cys323=) c.780C>T (p.Cys260=) c.*841C>T (n.*841C>T) c.903C>T (p.Cys301=) c.251+8273C>T c.933C>T (p.Cys311=) c.*940C>T (n.*940C>T) c.789C>T (p.Cys263=) c.897C>T (p.Cys299=) c.968C>T (p.Ala323Val) c.852C>T (p.Cys284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425646G>C | CA397394527 | AIPL1 | c.969C>G (p.Cys323Trp) c.780C>G (p.Cys260Trp) c.*841C>G (n.*841C>G) c.903C>G (p.Cys301Trp) c.251+8273C>G c.933C>G (p.Cys311Trp) c.*940C>G (n.*940C>G) c.789C>G (p.Cys263Trp) c.897C>G (p.Cys299Trp) c.968C>G (p.Ala323Gly) c.852C>G (p.Cys284Trp) | |
17 | g.6425646G= | CA2245346891 | AIPL1 | c.969C= (p.Cys323=) c.780C= (p.Cys260=) c.*841C= (n.*841C=) c.903C= (p.Cys301=) c.251+8273C= c.933C= (p.Cys311=) c.*940C= (n.*940C=) c.789C= (p.Cys263=) c.897C= (p.Cys299=) c.968C= (p.Ala323=) c.852C= (p.Cys284=) | |
17 | g.6425646G>T | CA397394526 | AIPL1 | c.969C>A (p.Cys323Ter) c.780C>A (p.Cys260Ter) c.*841C>A (n.*841C>A) c.903C>A (p.Cys301Ter) c.251+8273C>A c.933C>A (p.Cys311Ter) c.*940C>A (n.*940C>A) c.789C>A (p.Cys263Ter) c.897C>A (p.Cys299Ter) c.968C>A (p.Ala323Asp) c.852C>A (p.Cys284Ter) | |
17 | g.6425647C>A | CA397394528 | AIPL1 | c.968G>T (p.Cys323Phe) c.779G>T (p.Cys260Phe) c.*840G>T (n.*840G>T) c.902G>T (p.Cys301Phe) c.251+8272G>T c.932G>T (p.Cys311Phe) c.*939G>T (n.*939G>T) c.788G>T (p.Cys263Phe) c.896G>T (p.Cys299Phe) c.967G>T (p.Ala323Ser) c.851G>T (p.Cys284Phe) | |
17 | g.6425647C>G | CA397394529 | AIPL1 | c.968G>C (p.Cys323Ser) c.779G>C (p.Cys260Ser) c.*840G>C (n.*840G>C) c.902G>C (p.Cys301Ser) c.251+8272G>C c.932G>C (p.Cys311Ser) c.*939G>C (n.*939G>C) c.788G>C (p.Cys263Ser) c.896G>C (p.Cys299Ser) c.967G>C (p.Ala323Pro) c.851G>C (p.Cys284Ser) | |
17 | g.6425647C>T | CA397394530 | AIPL1 | c.968G>A (p.Cys323Tyr) c.779G>A (p.Cys260Tyr) c.*840G>A (n.*840G>A) c.902G>A (p.Cys301Tyr) c.251+8272G>A c.932G>A (p.Cys311Tyr) c.*939G>A (n.*939G>A) c.788G>A (p.Cys263Tyr) c.896G>A (p.Cys299Tyr) c.967G>A (p.Ala323Thr) c.851G>A (p.Cys284Tyr) | |
17 | g.6425648A>C | CA397394531 | AIPL1 | c.967T>G (p.Cys323Gly) c.778T>G (p.Cys260Gly) c.*839T>G (n.*839T>G) c.901T>G (p.Cys301Gly) c.251+8271T>G c.931T>G (p.Cys311Gly) c.*938T>G (n.*938T>G) c.787T>G (p.Cys263Gly) c.895T>G (p.Cys299Gly) c.966T>G (p.Ala322=) c.850T>G (p.Cys284Gly) | |
17 | g.6425648A>G | CA397394532 | AIPL1 | c.967T>C (p.Cys323Arg) c.778T>C (p.Cys260Arg) c.*839T>C (n.*839T>C) c.901T>C (p.Cys301Arg) c.251+8271T>C c.931T>C (p.Cys311Arg) c.*938T>C (n.*938T>C) c.787T>C (p.Cys263Arg) c.895T>C (p.Cys299Arg) c.966T>C (p.Ala322=) c.850T>C (p.Cys284Arg) | |
17 | g.6425648A>T | CA397394533 | AIPL1 | c.967T>A (p.Cys323Ser) c.778T>A (p.Cys260Ser) c.*839T>A (n.*839T>A) c.901T>A (p.Cys301Ser) c.251+8271T>A c.931T>A (p.Cys311Ser) c.*938T>A (n.*938T>A) c.787T>A (p.Cys263Ser) c.895T>A (p.Cys299Ser) c.966T>A (p.Ala322=) c.850T>A (p.Cys284Ser) | |
17 | g.6425649G>A | CA8328342 | AIPL1 | c.966C>T (p.Arg322=) c.777C>T (p.Arg259=) c.*838C>T (n.*838C>T) c.900C>T (p.Arg300=) c.251+8270C>T c.930C>T (p.Arg310=) c.*937C>T (n.*937C>T) c.786C>T (p.Arg262=) c.894C>T (p.Arg298=) c.965C>T (p.Ala322Val) c.849C>T (p.Arg283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425649G>C | CA397394534 | AIPL1 | c.966C>G (p.Arg322=) c.777C>G (p.Arg259=) c.*838C>G (n.*838C>G) c.900C>G (p.Arg300=) c.251+8270C>G c.930C>G (p.Arg310=) c.*937C>G (n.*937C>G) c.786C>G (p.Arg262=) c.894C>G (p.Arg298=) c.965C>G (p.Ala322Gly) c.849C>G (p.Arg283=) | |
17 | g.6425649G= | CA2245346894 | AIPL1 | c.966C= (p.Arg322=) c.777C= (p.Arg259=) c.*838C= (n.*838C=) c.900C= (p.Arg300=) c.251+8270C= c.930C= (p.Arg310=) c.*937C= (n.*937C=) c.786C= (p.Arg262=) c.894C= (p.Arg298=) c.965C= (p.Ala322=) c.849C= (p.Arg283=) | |
17 | g.6425649G>T | CA397394535 | AIPL1 | c.966C>A (p.Arg322=) c.777C>A (p.Arg259=) c.*838C>A (n.*838C>A) c.900C>A (p.Arg300=) c.251+8270C>A c.930C>A (p.Arg310=) c.*937C>A (n.*937C>A) c.786C>A (p.Arg262=) c.894C>A (p.Arg298=) c.965C>A (p.Ala322Asp) c.849C>A (p.Arg283=) | |
17 | g.6425650C>A | CA397394536 | AIPL1 | c.965G>T (p.Arg322Leu) c.776G>T (p.Arg259Leu) c.*837G>T (n.*837G>T) c.899G>T (p.Arg300Leu) c.251+8269G>T c.929G>T (p.Arg310Leu) c.*936G>T (n.*936G>T) c.785G>T (p.Arg262Leu) c.893G>T (p.Arg298Leu) c.964G>T (p.Ala322Ser) c.848G>T (p.Arg283Leu) | gnomAD v4 |
17 | g.6425650C= | CA2245346899 | AIPL1 | c.965G= (p.Arg322=) c.776G= (p.Arg259=) c.*837G= (n.*837G=) c.899G= (p.Arg300=) c.251+8269G= c.929G= (p.Arg310=) c.*936G= (n.*936G=) c.785G= (p.Arg262=) c.893G= (p.Arg298=) c.964G= (p.Ala322=) c.848G= (p.Arg283=) | |
17 | g.6425650C>G | CA8328344 | AIPL1 | c.965G>C (p.Arg322Pro) c.776G>C (p.Arg259Pro) c.*837G>C (n.*837G>C) c.899G>C (p.Arg300Pro) c.251+8269G>C c.929G>C (p.Arg310Pro) c.*936G>C (n.*936G>C) c.785G>C (p.Arg262Pro) c.893G>C (p.Arg298Pro) c.964G>C (p.Ala322Pro) c.848G>C (p.Arg283Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425650C>T | CA8328343 | AIPL1 | c.965G>A (p.Arg322His) c.776G>A (p.Arg259His) c.*837G>A (n.*837G>A) c.899G>A (p.Arg300His) c.251+8269G>A c.929G>A (p.Arg310His) c.*936G>A (n.*936G>A) c.785G>A (p.Arg262His) c.893G>A (p.Arg298His) c.964G>A (p.Ala322Thr) c.848G>A (p.Arg283His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425651G>A | CA8328345 | AIPL1 | c.964C>T (p.Arg322Cys) c.775C>T (p.Arg259Cys) c.*836C>T (n.*836C>T) c.898C>T (p.Arg300Cys) c.251+8268C>T c.928C>T (p.Arg310Cys) c.*935C>T (n.*935C>T) c.784C>T (p.Arg262Cys) c.892C>T (p.Arg298Cys) c.963C>T (p.Cys321=) c.847C>T (p.Arg283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425651G>C | CA397394538 | AIPL1 | c.964C>G (p.Arg322Gly) c.775C>G (p.Arg259Gly) c.*836C>G (n.*836C>G) c.898C>G (p.Arg300Gly) c.251+8268C>G c.928C>G (p.Arg310Gly) c.*935C>G (n.*935C>G) c.784C>G (p.Arg262Gly) c.892C>G (p.Arg298Gly) c.963C>G (p.Cys321Trp) c.847C>G (p.Arg283Gly) | |
17 | g.6425651G= | CA2245346903 | AIPL1 | c.964C= (p.Arg322=) c.775C= (p.Arg259=) c.*836C= (n.*836C=) c.898C= (p.Arg300=) c.251+8268C= c.928C= (p.Arg310=) c.*935C= (n.*935C=) c.784C= (p.Arg262=) c.892C= (p.Arg298=) c.963C= (p.Cys321=) c.847C= (p.Arg283=) | |
17 | g.6425651G>T | CA397394537 | AIPL1 | c.964C>A (p.Arg322Ser) c.775C>A (p.Arg259Ser) c.*836C>A (n.*836C>A) c.898C>A (p.Arg300Ser) c.251+8268C>A c.928C>A (p.Arg310Ser) c.*935C>A (n.*935C>A) c.784C>A (p.Arg262Ser) c.892C>A (p.Arg298Ser) c.963C>A (p.Cys321Ter) c.847C>A (p.Arg283Ser) | |
17 | g.6425652C>A | CA397394539 | AIPL1 | c.963G>T (p.Leu321=) c.774G>T (p.Leu258=) c.*835G>T (n.*835G>T) c.897G>T (p.Leu299=) c.251+8267G>T c.927G>T (p.Leu309=) c.*934G>T (n.*934G>T) c.783G>T (p.Leu261=) c.891G>T (p.Leu297=) c.962G>T (p.Cys321Phe) c.846G>T (p.Leu282=) | |
17 | g.6425652C= | CA2245346904 | AIPL1 | c.963G= (p.Leu321=) c.774G= (p.Leu258=) c.*835G= (n.*835G=) c.897G= (p.Leu299=) c.251+8267G= c.927G= (p.Leu309=) c.*934G= (n.*934G=) c.783G= (p.Leu261=) c.891G= (p.Leu297=) c.962G= (p.Cys321=) c.846G= (p.Leu282=) | |
17 | g.6425652C>G | CA287323783 | AIPL1 | c.963G>C (p.Leu321=) c.774G>C (p.Leu258=) c.*835G>C (n.*835G>C) c.897G>C (p.Leu299=) c.251+8267G>C c.927G>C (p.Leu309=) c.*934G>C (n.*934G>C) c.783G>C (p.Leu261=) c.891G>C (p.Leu297=) c.962G>C (p.Cys321Ser) c.846G>C (p.Leu282=) | dbSNP |
17 | g.6425652C>T | CA397394540 | AIPL1 | c.963G>A (p.Leu321=) c.774G>A (p.Leu258=) c.*835G>A (n.*835G>A) c.897G>A (p.Leu299=) c.251+8267G>A c.927G>A (p.Leu309=) c.*934G>A (n.*934G>A) c.783G>A (p.Leu261=) c.891G>A (p.Leu297=) c.962G>A (p.Cys321Tyr) c.846G>A (p.Leu282=) | ClinVar dbSNP |
17 | g.6425653A>C | CA397394541 | AIPL1 | c.962T>G (p.Leu321Arg) c.773T>G (p.Leu258Arg) c.*834T>G (n.*834T>G) c.896T>G (p.Leu299Arg) c.251+8266T>G c.926T>G (p.Leu309Arg) c.*933T>G (n.*933T>G) c.782T>G (p.Leu261Arg) c.890T>G (p.Leu297Arg) c.961T>G (p.Cys321Gly) c.845T>G (p.Leu282Arg) | gnomAD v4 |
17 | g.6425653A>G | CA397394542 | AIPL1 | c.962T>C (p.Leu321Pro) c.773T>C (p.Leu258Pro) c.*834T>C (n.*834T>C) c.896T>C (p.Leu299Pro) c.251+8266T>C c.926T>C (p.Leu309Pro) c.*933T>C (n.*933T>C) c.782T>C (p.Leu261Pro) c.890T>C (p.Leu297Pro) c.961T>C (p.Cys321Arg) c.845T>C (p.Leu282Pro) | |
17 | g.6425653A>T | CA397394543 | AIPL1 | c.962T>A (p.Leu321Gln) c.773T>A (p.Leu258Gln) c.*834T>A (n.*834T>A) c.896T>A (p.Leu299Gln) c.251+8266T>A c.926T>A (p.Leu309Gln) c.*933T>A (n.*933T>A) c.782T>A (p.Leu261Gln) c.890T>A (p.Leu297Gln) c.961T>A (p.Cys321Ser) c.845T>A (p.Leu282Gln) | |
17 | g.6425654G>A | CA8328346 | AIPL1 | c.961C>T (p.Leu321=) c.772C>T (p.Leu258=) c.*833C>T (n.*833C>T) c.895C>T (p.Leu299=) c.251+8265C>T c.925C>T (p.Leu309=) c.*932C>T (n.*932C>T) c.781C>T (p.Leu261=) c.889C>T (p.Leu297=) c.960C>T (p.Gly320=) c.844C>T (p.Leu282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6425654G>C | CA397394544 | AIPL1 | c.961C>G (p.Leu321Val) c.772C>G (p.Leu258Val) c.*833C>G (n.*833C>G) c.895C>G (p.Leu299Val) c.251+8265C>G c.925C>G (p.Leu309Val) c.*932C>G (n.*932C>G) c.781C>G (p.Leu261Val) c.889C>G (p.Leu297Val) c.960C>G (p.Gly320=) c.844C>G (p.Leu282Val) | |
17 | g.6425654G= | CA2245346905 | AIPL1 | c.961C= (p.Leu321=) c.772C= (p.Leu258=) c.*833C= (n.*833C=) c.895C= (p.Leu299=) c.251+8265C= c.925C= (p.Leu309=) c.*932C= (n.*932C=) c.781C= (p.Leu261=) c.889C= (p.Leu297=) c.960C= (p.Gly320=) c.844C= (p.Leu282=) | |
17 | g.6425654G>T | CA397394545 | AIPL1 | c.961C>A (p.Leu321Met) c.772C>A (p.Leu258Met) c.*833C>A (n.*833C>A) c.895C>A (p.Leu299Met) c.251+8265C>A c.925C>A (p.Leu309Met) c.*932C>A (n.*932C>A) c.781C>A (p.Leu261Met) c.889C>A (p.Leu297Met) c.960C>A (p.Gly320=) c.844C>A (p.Leu282Met) | gnomAD v4 |
17 | g.6425655C>A | CA397394546 | AIPL1 | c.960G>T (p.Arg320=) c.771G>T (p.Arg257=) c.*832G>T (n.*832G>T) c.894G>T (p.Arg298=) c.251+8264G>T c.924G>T (p.Arg308=) c.*931G>T (n.*931G>T) c.780G>T (p.Arg260=) c.888G>T (p.Arg296=) c.959G>T (p.Gly320Val) c.843G>T (p.Arg281=) | |
17 | g.6425655C>G | CA397394547 | AIPL1 | c.960G>C (p.Arg320=) c.771G>C (p.Arg257=) c.*832G>C (n.*832G>C) c.894G>C (p.Arg298=) c.251+8264G>C c.924G>C (p.Arg308=) c.*931G>C (n.*931G>C) c.780G>C (p.Arg260=) c.888G>C (p.Arg296=) c.959G>C (p.Gly320Ala) c.843G>C (p.Arg281=) | |
17 | g.6425655C>T | CA397394548 | AIPL1 | c.960G>A (p.Arg320=) c.771G>A (p.Arg257=) c.*832G>A (n.*832G>A) c.894G>A (p.Arg298=) c.251+8264G>A c.924G>A (p.Arg308=) c.*931G>A (n.*931G>A) c.780G>A (p.Arg260=) c.888G>A (p.Arg296=) c.959G>A (p.Gly320Asp) c.843G>A (p.Arg281=) | COSMIC |
17 | g.6425659_6425678dup | CA916083523 | AIPL1 | c.941_960dup (p.Leu321ArgfsTer14) c.752_771dup (p.Leu258ArgfsTer14) c.*813_*832dup (n.*813_*832dup) c.875_894dup (p.Leu299ArgfsTer14) c.251+8245_251+8264dup c.905_924dup (p.Leu309ArgfsTer14) c.*912_*931dup (n.*912_*931dup) c.761_780dup (p.Leu261ArgfsTer14) c.869_888dup (p.Leu297ArgfsTer14) c.940_959dup (p.Cys321GlufsTer?) c.824_843dup (p.Leu282ArgfsTer14) | ClinVar dbSNP |
17 | g.6425656C>A | CA397394549 | AIPL1 | c.959G>T (p.Arg320Leu) c.770G>T (p.Arg257Leu) c.*831G>T (n.*831G>T) c.893G>T (p.Arg298Leu) c.251+8263G>T c.923G>T (p.Arg308Leu) c.*930G>T (n.*930G>T) c.779G>T (p.Arg260Leu) c.887G>T (p.Arg296Leu) c.958G>T (p.Gly320Cys) c.842G>T (p.Arg281Leu) | gnomAD v4 |
17 | g.6425656C= | CA2245346908 | AIPL1 | c.959G= (p.Arg320=) c.770G= (p.Arg257=) c.*831G= (n.*831G=) c.893G= (p.Arg298=) c.251+8263G= c.923G= (p.Arg308=) c.*930G= (n.*930G=) c.779G= (p.Arg260=) c.887G= (p.Arg296=) c.958G= (p.Gly320=) c.842G= (p.Arg281=) | |
17 | g.6425656C>G | CA397394550 | AIPL1 | c.959G>C (p.Arg320Pro) c.770G>C (p.Arg257Pro) c.*831G>C (n.*831G>C) c.893G>C (p.Arg298Pro) c.251+8263G>C c.923G>C (p.Arg308Pro) c.*930G>C (n.*930G>C) c.779G>C (p.Arg260Pro) c.887G>C (p.Arg296Pro) c.958G>C (p.Gly320Arg) c.842G>C (p.Arg281Pro) | |
17 | g.6425656C>T | CA8328347 | AIPL1 | c.959G>A (p.Arg320Gln) c.770G>A (p.Arg257Gln) c.*831G>A (n.*831G>A) c.893G>A (p.Arg298Gln) c.251+8263G>A c.923G>A (p.Arg308Gln) c.*930G>A (n.*930G>A) c.779G>A (p.Arg260Gln) c.887G>A (p.Arg296Gln) c.958G>A (p.Gly320Ser) c.842G>A (p.Arg281Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425657_6425658del | CA2838285467 | AIPL1 | c.958_959del (p.Arg320AlafsTer?) c.769_770del (p.Arg257AlafsTer?) c.*830_*831del (n.*830_*831del) c.892_893del (p.Arg298AlafsTer?) c.251+8262_251+8263del c.922_923del (p.Arg308AlafsTer?) c.*929_*930del (n.*929_*930del) c.778_779del (p.Arg260AlafsTer?) c.886_887del (p.Arg296AlafsTer?) c.957_958del (p.Ser319ArgfsTer?) c.841_842del (p.Arg281AlafsTer?) | |
17 | g.6425657G>A | CA397394551 | AIPL1 | c.958C>T (p.Arg320Trp) c.769C>T (p.Arg257Trp) c.*830C>T (n.*830C>T) c.892C>T (p.Arg298Trp) c.251+8262C>T c.922C>T (p.Arg308Trp) c.*929C>T (n.*929C>T) c.778C>T (p.Arg260Trp) c.886C>T (p.Arg296Trp) c.957C>T (p.Ser319=) c.841C>T (p.Arg281Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425657G>C | CA397394553 | AIPL1 | c.958C>G (p.Arg320Gly) c.769C>G (p.Arg257Gly) c.*830C>G (n.*830C>G) c.892C>G (p.Arg298Gly) c.251+8262C>G c.922C>G (p.Arg308Gly) c.*929C>G (n.*929C>G) c.778C>G (p.Arg260Gly) c.886C>G (p.Arg296Gly) c.957C>G (p.Ser319Arg) c.841C>G (p.Arg281Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425657G= | CA2245346912 | AIPL1 | c.958C= (p.Arg320=) c.769C= (p.Arg257=) c.*830C= (n.*830C=) c.892C= (p.Arg298=) c.251+8262C= c.922C= (p.Arg308=) c.*929C= (n.*929C=) c.778C= (p.Arg260=) c.886C= (p.Arg296=) c.957C= (p.Ser319=) c.841C= (p.Arg281=) | |
17 | g.6425657G>T | CA397394552 | AIPL1 | c.958C>A (p.Arg320=) c.769C>A (p.Arg257=) c.*830C>A (n.*830C>A) c.892C>A (p.Arg298=) c.251+8262C>A c.922C>A (p.Arg308=) c.*929C>A (n.*929C>A) c.778C>A (p.Arg260=) c.886C>A (p.Arg296=) c.957C>A (p.Ser319Arg) c.841C>A (p.Arg281=) | gnomAD v4 |
17 | g.6425657_6425660delinsGCTC | CA2245346914 | AIPL1 | c.955_958delinsGAGC (p.Glu319=) c.766_769delinsGAGC (p.Glu256=) c.*827_*830delinsGAGC (n.*827_*830delinsGAGC) c.889_892delinsGAGC (p.Glu297=) c.251+8259_251+8262delinsGAGC c.919_922delinsGAGC (p.Glu307=) c.*926_*929delinsGAGC (n.*926_*929delinsGAGC) c.775_778delinsGAGC (p.Glu259=) c.883_886delinsGAGC (p.Glu295=) c.954_957delinsGAGC (p.Arg318=) c.838_841delinsGAGC (p.Glu280=) | |
17 | g.6425658C>A | CA397394554 | AIPL1 | c.957G>T (p.Glu319Asp) c.768G>T (p.Glu256Asp) c.*829G>T (n.*829G>T) c.891G>T (p.Glu297Asp) c.251+8261G>T c.921G>T (p.Glu307Asp) c.*928G>T (n.*928G>T) c.777G>T (p.Glu259Asp) c.885G>T (p.Glu295Asp) c.956G>T (p.Ser319Ile) c.840G>T (p.Glu280Asp) | |
17 | g.6425658C>G | CA397394555 | AIPL1 | c.957G>C (p.Glu319Asp) c.768G>C (p.Glu256Asp) c.*829G>C (n.*829G>C) c.891G>C (p.Glu297Asp) c.251+8261G>C c.921G>C (p.Glu307Asp) c.*928G>C (n.*928G>C) c.777G>C (p.Glu259Asp) c.885G>C (p.Glu295Asp) c.956G>C (p.Ser319Thr) c.840G>C (p.Glu280Asp) | |
17 | g.6425658C>T | CA397394556 | AIPL1 | c.957G>A (p.Glu319=) c.768G>A (p.Glu256=) c.*829G>A (n.*829G>A) c.891G>A (p.Glu297=) c.251+8261G>A c.921G>A (p.Glu307=) c.*928G>A (n.*928G>A) c.777G>A (p.Glu259=) c.885G>A (p.Glu295=) c.956G>A (p.Ser319Asn) c.840G>A (p.Glu280=) | |
17 | g.6425666_6425668del | CA645590905 | AIPL1 | c.955_957del (p.Glu319del) c.766_768del (p.Glu256del) c.*827_*829del (n.*827_*829del) c.889_891del (p.Glu297del) c.251+8259_251+8261del c.919_921del (p.Glu307del) c.*926_*928del (n.*926_*928del) c.775_777del (p.Glu259del) c.883_885del (p.Glu295del) c.954_956del (p.Arg318del) c.838_840del (p.Glu280del) | dbSNP gnomAD v4 COSMIC |
17 | g.6425659T>A | CA397394557 | AIPL1 | c.956A>T (p.Glu319Val) c.767A>T (p.Glu256Val) c.*828A>T (n.*828A>T) c.890A>T (p.Glu297Val) c.251+8260A>T c.920A>T (p.Glu307Val) c.*927A>T (n.*927A>T) c.776A>T (p.Glu259Val) c.884A>T (p.Glu295Val) c.955A>T (p.Ser319Cys) c.839A>T (p.Glu280Val) | |
17 | g.6425659T>C | CA397394558 | AIPL1 | c.956A>G (p.Glu319Gly) c.767A>G (p.Glu256Gly) c.*828A>G (n.*828A>G) c.890A>G (p.Glu297Gly) c.251+8260A>G c.920A>G (p.Glu307Gly) c.*927A>G (n.*927A>G) c.776A>G (p.Glu259Gly) c.884A>G (p.Glu295Gly) c.955A>G (p.Ser319Gly) c.839A>G (p.Glu280Gly) | COSMIC |
17 | g.6425659T>G | CA397394559 | AIPL1 | c.956A>C (p.Glu319Ala) c.767A>C (p.Glu256Ala) c.*828A>C (n.*828A>C) c.890A>C (p.Glu297Ala) c.251+8260A>C c.920A>C (p.Glu307Ala) c.*927A>C (n.*927A>C) c.776A>C (p.Glu259Ala) c.884A>C (p.Glu295Ala) c.955A>C (p.Ser319Arg) c.839A>C (p.Glu280Ala) | |
17 | g.6425660C>A | CA397394560 | AIPL1 | c.955G>T (p.Glu319Ter) c.766G>T (p.Glu256Ter) c.*827G>T (n.*827G>T) c.889G>T (p.Glu297Ter) c.251+8259G>T c.919G>T (p.Glu307Ter) c.*926G>T (n.*926G>T) c.775G>T (p.Glu259Ter) c.883G>T (p.Glu295Ter) c.954G>T (p.Arg318Ser) c.838G>T (p.Glu280Ter) | |
17 | g.6425660C= | CA2245346920 | AIPL1 | c.955G= (p.Glu319=) c.766G= (p.Glu256=) c.*827G= (n.*827G=) c.889G= (p.Glu297=) c.251+8259G= c.919G= (p.Glu307=) c.*926G= (n.*926G=) c.775G= (p.Glu259=) c.883G= (p.Glu295=) c.954G= (p.Arg318=) c.838G= (p.Glu280=) | |
17 | g.6425660C>G | CA397394561 | AIPL1 | c.955G>C (p.Glu319Gln) c.766G>C (p.Glu256Gln) c.*827G>C (n.*827G>C) c.889G>C (p.Glu297Gln) c.251+8259G>C c.919G>C (p.Glu307Gln) c.*926G>C (n.*926G>C) c.775G>C (p.Glu259Gln) c.883G>C (p.Glu295Gln) c.954G>C (p.Arg318Ser) c.838G>C (p.Glu280Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425660C>T | CA397394562 | AIPL1 | c.955G>A (p.Glu319Lys) c.766G>A (p.Glu256Lys) c.*827G>A (n.*827G>A) c.889G>A (p.Glu297Lys) c.251+8259G>A c.919G>A (p.Glu307Lys) c.*926G>A (n.*926G>A) c.775G>A (p.Glu259Lys) c.883G>A (p.Glu295Lys) c.954G>A (p.Arg318=) c.838G>A (p.Glu280Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425661C>A | CA397394564 | AIPL1 | c.954G>T (p.Glu318Asp) c.765G>T (p.Glu255Asp) c.*826G>T (n.*826G>T) c.888G>T (p.Glu296Asp) c.251+8258G>T c.918G>T (p.Glu306Asp) c.*925G>T (n.*925G>T) c.774G>T (p.Glu258Asp) c.882G>T (p.Glu294Asp) c.953G>T (p.Arg318Met) c.837G>T (p.Glu279Asp) | |
17 | g.6425661C>G | CA397394565 | AIPL1 | c.954G>C (p.Glu318Asp) c.765G>C (p.Glu255Asp) c.*826G>C (n.*826G>C) c.888G>C (p.Glu296Asp) c.251+8258G>C c.918G>C (p.Glu306Asp) c.*925G>C (n.*925G>C) c.774G>C (p.Glu258Asp) c.882G>C (p.Glu294Asp) c.953G>C (p.Arg318Thr) c.837G>C (p.Glu279Asp) | |
17 | g.6425661C>T | CA397394563 | AIPL1 | c.954G>A (p.Glu318=) c.765G>A (p.Glu255=) c.*826G>A (n.*826G>A) c.888G>A (p.Glu296=) c.251+8258G>A c.918G>A (p.Glu306=) c.*925G>A (n.*925G>A) c.774G>A (p.Glu258=) c.882G>A (p.Glu294=) c.953G>A (p.Arg318Lys) c.837G>A (p.Glu279=) | gnomAD v4 |
17 | g.6425662T>A | CA397394566 | AIPL1 | c.953A>T (p.Glu318Val) c.764A>T (p.Glu255Val) c.*825A>T (n.*825A>T) c.887A>T (p.Glu296Val) c.251+8257A>T c.917A>T (p.Glu306Val) c.*924A>T (n.*924A>T) c.773A>T (p.Glu258Val) c.881A>T (p.Glu294Val) c.952A>T (p.Arg318Trp) c.836A>T (p.Glu279Val) | |
17 | g.6425662T>C | CA397394567 | AIPL1 | c.953A>G (p.Glu318Gly) c.764A>G (p.Glu255Gly) c.*825A>G (n.*825A>G) c.887A>G (p.Glu296Gly) c.251+8257A>G c.917A>G (p.Glu306Gly) c.*924A>G (n.*924A>G) c.773A>G (p.Glu258Gly) c.881A>G (p.Glu294Gly) c.952A>G (p.Arg318Gly) c.836A>G (p.Glu279Gly) | |
17 | g.6425662T>G | CA397394568 | AIPL1 | c.953A>C (p.Glu318Ala) c.764A>C (p.Glu255Ala) c.*825A>C (n.*825A>C) c.887A>C (p.Glu296Ala) c.251+8257A>C c.917A>C (p.Glu306Ala) c.*924A>C (n.*924A>C) c.773A>C (p.Glu258Ala) c.881A>C (p.Glu294Ala) c.952A>C (p.Arg318=) c.836A>C (p.Glu279Ala) | |
17 | g.6425663C>A | CA397394569 | AIPL1 | c.952G>T (p.Glu318Ter) c.763G>T (p.Glu255Ter) c.*824G>T (n.*824G>T) c.886G>T (p.Glu296Ter) c.251+8256G>T c.916G>T (p.Glu306Ter) c.*923G>T (n.*923G>T) c.772G>T (p.Glu258Ter) c.880G>T (p.Glu294Ter) c.951G>T (p.Arg317Ser) c.835G>T (p.Glu279Ter) | |
17 | g.6425663C= | CA2245346922 | AIPL1 | c.952G= (p.Glu318=) c.763G= (p.Glu255=) c.*824G= (n.*824G=) c.886G= (p.Glu296=) c.251+8256G= c.916G= (p.Glu306=) c.*923G= (n.*923G=) c.772G= (p.Glu258=) c.880G= (p.Glu294=) c.951G= (p.Arg317=) c.835G= (p.Glu279=) | |
17 | g.6425663C>G | CA397394570 | AIPL1 | c.952G>C (p.Glu318Gln) c.763G>C (p.Glu255Gln) c.*824G>C (n.*824G>C) c.886G>C (p.Glu296Gln) c.251+8256G>C c.916G>C (p.Glu306Gln) c.*923G>C (n.*923G>C) c.772G>C (p.Glu258Gln) c.880G>C (p.Glu294Gln) c.951G>C (p.Arg317Ser) c.835G>C (p.Glu279Gln) | |
17 | g.6425663C>T | CA397394571 | AIPL1 | c.952G>A (p.Glu318Lys) c.763G>A (p.Glu255Lys) c.*824G>A (n.*824G>A) c.886G>A (p.Glu296Lys) c.251+8256G>A c.916G>A (p.Glu306Lys) c.*923G>A (n.*923G>A) c.772G>A (p.Glu258Lys) c.880G>A (p.Glu294Lys) c.951G>A (p.Arg317=) c.835G>A (p.Glu279Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425664C>A | CA397394572 | AIPL1 | c.951G>T (p.Glu317Asp) c.762G>T (p.Glu254Asp) c.*823G>T (n.*823G>T) c.885G>T (p.Glu295Asp) c.251+8255G>T c.915G>T (p.Glu305Asp) c.*922G>T (n.*922G>T) c.771G>T (p.Glu257Asp) c.879G>T (p.Glu293Asp) c.950G>T (p.Arg317Met) c.834G>T (p.Glu278Asp) | |
17 | g.6425664C= | CA2245346924 | AIPL1 | c.951G= (p.Glu317=) c.762G= (p.Glu254=) c.*823G= (n.*823G=) c.885G= (p.Glu295=) c.251+8255G= c.915G= (p.Glu305=) c.*922G= (n.*922G=) c.771G= (p.Glu257=) c.879G= (p.Glu293=) c.950G= (p.Arg317=) c.834G= (p.Glu278=) | |
17 | g.6425664C>G | CA397394573 | AIPL1 | c.951G>C (p.Glu317Asp) c.762G>C (p.Glu254Asp) c.*823G>C (n.*823G>C) c.885G>C (p.Glu295Asp) c.251+8255G>C c.915G>C (p.Glu305Asp) c.*922G>C (n.*922G>C) c.771G>C (p.Glu257Asp) c.879G>C (p.Glu293Asp) c.950G>C (p.Arg317Thr) c.834G>C (p.Glu278Asp) | |
17 | g.6425664C>T | CA397394574 | AIPL1 | c.951G>A (p.Glu317=) c.762G>A (p.Glu254=) c.*823G>A (n.*823G>A) c.885G>A (p.Glu295=) c.251+8255G>A c.915G>A (p.Glu305=) c.*922G>A (n.*922G>A) c.771G>A (p.Glu257=) c.879G>A (p.Glu293=) c.950G>A (p.Arg317Lys) c.834G>A (p.Glu278=) | |
17 | g.6425665T>A | CA397394575 | AIPL1 | c.950A>T (p.Glu317Val) c.761A>T (p.Glu254Val) c.*822A>T (n.*822A>T) c.884A>T (p.Glu295Val) c.251+8254A>T c.914A>T (p.Glu305Val) c.*921A>T (n.*921A>T) c.770A>T (p.Glu257Val) c.878A>T (p.Glu293Val) c.949A>T (p.Arg317Trp) c.833A>T (p.Glu278Val) | |
17 | g.6425665T>C | CA8328349 | AIPL1 | c.950A>G (p.Glu317Gly) c.761A>G (p.Glu254Gly) c.*822A>G (n.*822A>G) c.884A>G (p.Glu295Gly) c.251+8254A>G c.914A>G (p.Glu305Gly) c.*921A>G (n.*921A>G) c.770A>G (p.Glu257Gly) c.878A>G (p.Glu293Gly) c.949A>G (p.Arg317Gly) c.833A>G (p.Glu278Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425665T>G | CA397394576 | AIPL1 | c.950A>C (p.Glu317Ala) c.761A>C (p.Glu254Ala) c.*822A>C (n.*822A>C) c.884A>C (p.Glu295Ala) c.251+8254A>C c.914A>C (p.Glu305Ala) c.*921A>C (n.*921A>C) c.770A>C (p.Glu257Ala) c.878A>C (p.Glu293Ala) c.949A>C (p.Arg317=) c.833A>C (p.Glu278Ala) | |
17 | g.6425665T= | CA2245346929 | AIPL1 | c.950A= (p.Glu317=) c.761A= (p.Glu254=) c.*822A= (n.*822A=) c.884A= (p.Glu295=) c.251+8254A= c.914A= (p.Glu305=) c.*921A= (n.*921A=) c.770A= (p.Glu257=) c.878A= (p.Glu293=) c.949A= (p.Arg317=) c.833A= (p.Glu278=) | |
17 | g.6425665dup | CA8328348 | AIPL1 | c.950dup (p.Glu318GlyfsTer?) c.761dup (p.Glu255GlyfsTer?) c.*822dup (n.*822dup) c.884dup (p.Glu296GlyfsTer?) c.251+8254dup c.914dup (p.Glu306GlyfsTer?) c.*921dup (n.*921dup) c.770dup (p.Glu258GlyfsTer?) c.878dup (p.Glu294GlyfsTer?) c.949dup (p.Arg317LysfsTer?) c.833dup (p.Glu279GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425666C>A | CA397394578 | AIPL1 | c.949G>T (p.Glu317Ter) c.760G>T (p.Glu254Ter) c.*821G>T (n.*821G>T) c.883G>T (p.Glu295Ter) c.251+8253G>T c.913G>T (p.Glu305Ter) c.*920G>T (n.*920G>T) c.769G>T (p.Glu257Ter) c.877G>T (p.Glu293Ter) c.948G>T (p.Arg316Ser) c.832G>T (p.Glu278Ter) | gnomAD v4 |
17 | g.6425666C= | CA2245346932 | AIPL1 | c.949G= (p.Glu317=) c.760G= (p.Glu254=) c.*821G= (n.*821G=) c.883G= (p.Glu295=) c.251+8253G= c.913G= (p.Glu305=) c.*920G= (n.*920G=) c.769G= (p.Glu257=) c.877G= (p.Glu293=) c.948G= (p.Arg316=) c.832G= (p.Glu278=) | |
17 | g.6425666C>G | CA397394577 | AIPL1 | c.949G>C (p.Glu317Gln) c.760G>C (p.Glu254Gln) c.*821G>C (n.*821G>C) c.883G>C (p.Glu295Gln) c.251+8253G>C c.913G>C (p.Glu305Gln) c.*920G>C (n.*920G>C) c.769G>C (p.Glu257Gln) c.877G>C (p.Glu293Gln) c.948G>C (p.Arg316Ser) c.832G>C (p.Glu278Gln) | |
17 | g.6425666C>T | CA8328350 | AIPL1 | c.949G>A (p.Glu317Lys) c.760G>A (p.Glu254Lys) c.*821G>A (n.*821G>A) c.883G>A (p.Glu295Lys) c.251+8253G>A c.913G>A (p.Glu305Lys) c.*920G>A (n.*920G>A) c.769G>A (p.Glu257Lys) c.877G>A (p.Glu293Lys) c.948G>A (p.Arg316=) c.832G>A (p.Glu278Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425667C>A | CA397394579 | AIPL1 | c.948G>T (p.Gln316His) c.759G>T (p.Gln253His) c.*820G>T (n.*820G>T) c.882G>T (p.Gln294His) c.251+8252G>T c.912G>T (p.Gln304His) c.*919G>T (n.*919G>T) c.768G>T (p.Gln256His) c.876G>T (p.Gln292His) c.947G>T (p.Arg316Met) c.831G>T (p.Gln277His) | gnomAD v4 |
17 | g.6425667C>G | CA397394580 | AIPL1 | c.948G>C (p.Gln316His) c.759G>C (p.Gln253His) c.*820G>C (n.*820G>C) c.882G>C (p.Gln294His) c.251+8252G>C c.912G>C (p.Gln304His) c.*919G>C (n.*919G>C) c.768G>C (p.Gln256His) c.876G>C (p.Gln292His) c.947G>C (p.Arg316Thr) c.831G>C (p.Gln277His) | |
17 | g.6425667C>T | CA397394581 | AIPL1 | c.948G>A (p.Gln316=) c.759G>A (p.Gln253=) c.*820G>A (n.*820G>A) c.882G>A (p.Gln294=) c.251+8252G>A c.912G>A (p.Gln304=) c.*919G>A (n.*919G>A) c.768G>A (p.Gln256=) c.876G>A (p.Gln292=) c.947G>A (p.Arg316Lys) c.831G>A (p.Gln277=) | |
17 | g.6425668T>A | CA397394582 | AIPL1 | c.947A>T (p.Gln316Leu) c.758A>T (p.Gln253Leu) c.*819A>T (n.*819A>T) c.881A>T (p.Gln294Leu) c.251+8251A>T c.911A>T (p.Gln304Leu) c.*918A>T (n.*918A>T) c.767A>T (p.Gln256Leu) c.875A>T (p.Gln292Leu) c.946A>T (p.Arg316Trp) c.830A>T (p.Gln277Leu) | |
17 | g.6425668T>C | CA397394583 | AIPL1 | c.947A>G (p.Gln316Arg) c.758A>G (p.Gln253Arg) c.*819A>G (n.*819A>G) c.881A>G (p.Gln294Arg) c.251+8251A>G c.911A>G (p.Gln304Arg) c.*918A>G (n.*918A>G) c.767A>G (p.Gln256Arg) c.875A>G (p.Gln292Arg) c.946A>G (p.Arg316Gly) c.830A>G (p.Gln277Arg) | |
17 | g.6425668T>G | CA397394584 | AIPL1 | c.947A>C (p.Gln316Pro) c.758A>C (p.Gln253Pro) c.*819A>C (n.*819A>C) c.881A>C (p.Gln294Pro) c.251+8251A>C c.911A>C (p.Gln304Pro) c.*918A>C (n.*918A>C) c.767A>C (p.Gln256Pro) c.875A>C (p.Gln292Pro) c.946A>C (p.Arg316=) c.830A>C (p.Gln277Pro) | |
17 | g.6425669G>A | CA397394585 | AIPL1 | c.946C>T (p.Gln316Ter) c.757C>T (p.Gln253Ter) c.*818C>T (n.*818C>T) c.880C>T (p.Gln294Ter) c.251+8250C>T c.910C>T (p.Gln304Ter) c.*917C>T (n.*917C>T) c.766C>T (p.Gln256Ter) c.874C>T (p.Gln292Ter) c.945C>T (p.Ser315=) c.829C>T (p.Gln277Ter) | gnomAD v4 |
17 | g.6425669G>C | CA397394586 | AIPL1 | c.946C>G (p.Gln316Glu) c.757C>G (p.Gln253Glu) c.*818C>G (n.*818C>G) c.880C>G (p.Gln294Glu) c.251+8250C>G c.910C>G (p.Gln304Glu) c.*917C>G (n.*917C>G) c.766C>G (p.Gln256Glu) c.874C>G (p.Gln292Glu) c.945C>G (p.Ser315Arg) c.829C>G (p.Gln277Glu) | |
17 | g.6425669G>T | CA397394587 | AIPL1 | c.946C>A (p.Gln316Lys) c.757C>A (p.Gln253Lys) c.*818C>A (n.*818C>A) c.880C>A (p.Gln294Lys) c.251+8250C>A c.910C>A (p.Gln304Lys) c.*917C>A (n.*917C>A) c.766C>A (p.Gln256Lys) c.874C>A (p.Gln292Lys) c.945C>A (p.Ser315Arg) c.829C>A (p.Gln277Lys) | gnomAD v4 |
17 | g.6425670C>A | CA397394588 | AIPL1 | c.945G>T (p.Lys315Asn) c.756G>T (p.Lys252Asn) c.*817G>T (n.*817G>T) c.879G>T (p.Lys293Asn) c.251+8249G>T c.909G>T (p.Lys303Asn) c.*916G>T (n.*916G>T) c.765G>T (p.Lys255Asn) c.873G>T (p.Lys291Asn) c.944G>T (p.Ser315Ile) c.828G>T (p.Lys276Asn) | |
17 | g.6425670C>G | CA397394589 | AIPL1 | c.945G>C (p.Lys315Asn) c.756G>C (p.Lys252Asn) c.*817G>C (n.*817G>C) c.879G>C (p.Lys293Asn) c.251+8249G>C c.909G>C (p.Lys303Asn) c.*916G>C (n.*916G>C) c.765G>C (p.Lys255Asn) c.873G>C (p.Lys291Asn) c.944G>C (p.Ser315Thr) c.828G>C (p.Lys276Asn) | |
17 | g.6425670C>T | CA397394590 | AIPL1 | c.945G>A (p.Lys315=) c.756G>A (p.Lys252=) c.*817G>A (n.*817G>A) c.879G>A (p.Lys293=) c.251+8249G>A c.909G>A (p.Lys303=) c.*916G>A (n.*916G>A) c.765G>A (p.Lys255=) c.873G>A (p.Lys291=) c.944G>A (p.Ser315Asn) c.828G>A (p.Lys276=) | |
17 | g.6425671T>A | CA397394593 | AIPL1 | c.944A>T (p.Lys315Met) c.755A>T (p.Lys252Met) c.*816A>T (n.*816A>T) c.878A>T (p.Lys293Met) c.251+8248A>T c.908A>T (p.Lys303Met) c.*915A>T (n.*915A>T) c.764A>T (p.Lys255Met) c.872A>T (p.Lys291Met) c.943A>T (p.Ser315Cys) c.827A>T (p.Lys276Met) | |
17 | g.6425671T>C | CA397394592 | AIPL1 | c.944A>G (p.Lys315Arg) c.755A>G (p.Lys252Arg) c.*816A>G (n.*816A>G) c.878A>G (p.Lys293Arg) c.251+8248A>G c.908A>G (p.Lys303Arg) c.*915A>G (n.*915A>G) c.764A>G (p.Lys255Arg) c.872A>G (p.Lys291Arg) c.943A>G (p.Ser315Gly) c.827A>G (p.Lys276Arg) | |
17 | g.6425671T>G | CA397394591 | AIPL1 | c.944A>C (p.Lys315Thr) c.755A>C (p.Lys252Thr) c.*816A>C (n.*816A>C) c.878A>C (p.Lys293Thr) c.251+8248A>C c.908A>C (p.Lys303Thr) c.*915A>C (n.*915A>C) c.764A>C (p.Lys255Thr) c.872A>C (p.Lys291Thr) c.943A>C (p.Ser315Arg) c.827A>C (p.Lys276Thr) | |
17 | g.6425672T>A | CA397394594 | AIPL1 | c.943A>T (p.Lys315Ter) c.754A>T (p.Lys252Ter) c.*815A>T (n.*815A>T) c.877A>T (p.Lys293Ter) c.251+8247A>T c.907A>T (p.Lys303Ter) c.*914A>T (n.*914A>T) c.763A>T (p.Lys255Ter) c.871A>T (p.Lys291Ter) c.942A>T (p.Arg314Ser) c.826A>T (p.Lys276Ter) | |
17 | g.6425672T>C | CA397394596 | AIPL1 | c.943A>G (p.Lys315Glu) c.754A>G (p.Lys252Glu) c.*815A>G (n.*815A>G) c.877A>G (p.Lys293Glu) c.251+8247A>G c.907A>G (p.Lys303Glu) c.*914A>G (n.*914A>G) c.763A>G (p.Lys255Glu) c.871A>G (p.Lys291Glu) c.942A>G (p.Arg314=) c.826A>G (p.Lys276Glu) | |
17 | g.6425672T>G | CA397394595 | AIPL1 | c.943A>C (p.Lys315Gln) c.754A>C (p.Lys252Gln) c.*815A>C (n.*815A>C) c.877A>C (p.Lys293Gln) c.251+8247A>C c.907A>C (p.Lys303Gln) c.*914A>C (n.*914A>C) c.763A>C (p.Lys255Gln) c.871A>C (p.Lys291Gln) c.942A>C (p.Arg314Ser) c.826A>C (p.Lys276Gln) | |
17 | g.6425674_6425675del | CA2841981216 | AIPL1 | c.942_943del (p.Lys315AlafsTer?) c.753_754del (p.Lys252AlafsTer?) c.*814_*815del (n.*814_*815del) c.876_877del (p.Lys293AlafsTer?) c.251+8246_251+8247del c.906_907del (p.Lys303AlafsTer?) c.*913_*914del (n.*913_*914del) c.762_763del (p.Lys255AlafsTer?) c.870_871del (p.Lys291AlafsTer?) c.941_942del (p.Arg314LysfsTer?) c.825_826del (p.Lys276AlafsTer?) | |
17 | g.6425673C>A | CA397394597 | AIPL1 | c.942G>T (p.Glu314Asp) c.753G>T (p.Glu251Asp) c.*814G>T (n.*814G>T) c.876G>T (p.Glu292Asp) c.251+8246G>T c.906G>T (p.Glu302Asp) c.*913G>T (n.*913G>T) c.762G>T (p.Glu254Asp) c.870G>T (p.Glu290Asp) c.941G>T (p.Arg314Ile) c.825G>T (p.Glu275Asp) | |
17 | g.6425673C>G | CA397394599 | AIPL1 | c.942G>C (p.Glu314Asp) c.753G>C (p.Glu251Asp) c.*814G>C (n.*814G>C) c.876G>C (p.Glu292Asp) c.251+8246G>C c.906G>C (p.Glu302Asp) c.*913G>C (n.*913G>C) c.762G>C (p.Glu254Asp) c.870G>C (p.Glu290Asp) c.941G>C (p.Arg314Thr) c.825G>C (p.Glu275Asp) | |
17 | g.6425673C>T | CA397394598 | AIPL1 | c.942G>A (p.Glu314=) c.753G>A (p.Glu251=) c.*814G>A (n.*814G>A) c.876G>A (p.Glu292=) c.251+8246G>A c.906G>A (p.Glu302=) c.*913G>A (n.*913G>A) c.762G>A (p.Glu254=) c.870G>A (p.Glu290=) c.941G>A (p.Arg314Lys) c.825G>A (p.Glu275=) | |
17 | g.6425674T>A | CA397394600 | AIPL1 | c.941A>T (p.Glu314Val) c.752A>T (p.Glu251Val) c.*813A>T (n.*813A>T) c.875A>T (p.Glu292Val) c.251+8245A>T c.905A>T (p.Glu302Val) c.*912A>T (n.*912A>T) c.761A>T (p.Glu254Val) c.869A>T (p.Glu290Val) c.940A>T (p.Arg314Ter) c.824A>T (p.Glu275Val) | |
17 | g.6425674T>C | CA397394601 | AIPL1 | c.941A>G (p.Glu314Gly) c.752A>G (p.Glu251Gly) c.*813A>G (n.*813A>G) c.875A>G (p.Glu292Gly) c.251+8245A>G c.905A>G (p.Glu302Gly) c.*912A>G (n.*912A>G) c.761A>G (p.Glu254Gly) c.869A>G (p.Glu290Gly) c.940A>G (p.Arg314Gly) c.824A>G (p.Glu275Gly) | |
17 | g.6425674T>G | CA397394602 | AIPL1 | c.941A>C (p.Glu314Ala) c.752A>C (p.Glu251Ala) c.*813A>C (n.*813A>C) c.875A>C (p.Glu292Ala) c.251+8245A>C c.905A>C (p.Glu302Ala) c.*912A>C (n.*912A>C) c.761A>C (p.Glu254Ala) c.869A>C (p.Glu290Ala) c.940A>C (p.Arg314=) c.824A>C (p.Glu275Ala) | |
17 | g.6425675C>A | CA397394603 | AIPL1 | c.940G>T (p.Glu314Ter) c.751G>T (p.Glu251Ter) c.*812G>T (n.*812G>T) c.874G>T (p.Glu292Ter) c.251+8244G>T c.904G>T (p.Glu302Ter) c.*911G>T (n.*911G>T) c.760G>T (p.Glu254Ter) c.868G>T (p.Glu290Ter) c.939G>T (p.Arg313=) c.823G>T (p.Glu275Ter) | |
17 | g.6425675C= | CA2245346934 | AIPL1 | c.940G= (p.Glu314=) c.751G= (p.Glu251=) c.*812G= (n.*812G=) c.874G= (p.Glu292=) c.251+8244G= c.904G= (p.Glu302=) c.*911G= (n.*911G=) c.760G= (p.Glu254=) c.868G= (p.Glu290=) c.939G= (p.Arg313=) c.823G= (p.Glu275=) | |
17 | g.6425675C>G | CA397394604 | AIPL1 | c.940G>C (p.Glu314Gln) c.751G>C (p.Glu251Gln) c.*812G>C (n.*812G>C) c.874G>C (p.Glu292Gln) c.251+8244G>C c.904G>C (p.Glu302Gln) c.*911G>C (n.*911G>C) c.760G>C (p.Glu254Gln) c.868G>C (p.Glu290Gln) c.939G>C (p.Arg313=) c.823G>C (p.Glu275Gln) | gnomAD v4 |
17 | g.6425675C>T | CA8328351 | AIPL1 | c.940G>A (p.Glu314Lys) c.751G>A (p.Glu251Lys) c.*812G>A (n.*812G>A) c.874G>A (p.Glu292Lys) c.251+8244G>A c.904G>A (p.Glu302Lys) c.*911G>A (n.*911G>A) c.760G>A (p.Glu254Lys) c.868G>A (p.Glu290Lys) c.939G>A (p.Arg313=) c.823G>A (p.Glu275Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6425676C>A | CA397394605 | AIPL1 | c.939G>T (p.Ala313=) c.750G>T (p.Ala250=) c.*811G>T (n.*811G>T) c.873G>T (p.Ala291=) c.251+8243G>T c.903G>T (p.Ala301=) c.*910G>T (n.*910G>T) c.759G>T (p.Ala253=) c.867G>T (p.Ala289=) c.938G>T (p.Arg313Leu) c.822G>T (p.Ala274=) | |
17 | g.6425676C= | CA2245346937 | AIPL1 | c.939G= (p.Ala313=) c.750G= (p.Ala250=) c.*811G= (n.*811G=) c.873G= (p.Ala291=) c.251+8243G= c.903G= (p.Ala301=) c.*910G= (n.*910G=) c.759G= (p.Ala253=) c.867G= (p.Ala289=) c.938G= (p.Arg313=) c.822G= (p.Ala274=) | |
17 | g.6425676C>G | CA397394606 | AIPL1 | c.939G>C (p.Ala313=) c.750G>C (p.Ala250=) c.*811G>C (n.*811G>C) c.873G>C (p.Ala291=) c.251+8243G>C c.903G>C (p.Ala301=) c.*910G>C (n.*910G>C) c.759G>C (p.Ala253=) c.867G>C (p.Ala289=) c.938G>C (p.Arg313Pro) c.822G>C (p.Ala274=) | ClinVar gnomAD v4 |
17 | g.6425676C>T | CA287323813 | AIPL1 | c.939G>A (p.Ala313=) c.750G>A (p.Ala250=) c.*811G>A (n.*811G>A) c.873G>A (p.Ala291=) c.251+8243G>A c.903G>A (p.Ala301=) c.*910G>A (n.*910G>A) c.759G>A (p.Ala253=) c.867G>A (p.Ala289=) c.938G>A (p.Arg313Gln) c.822G>A (p.Ala274=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.6425677G>A | CA8328352 | AIPL1 | c.938C>T (p.Ala313Val) c.749C>T (p.Ala250Val) c.*810C>T (n.*810C>T) c.872C>T (p.Ala291Val) c.251+8242C>T c.902C>T (p.Ala301Val) c.*909C>T (n.*909C>T) c.758C>T (p.Ala253Val) c.866C>T (p.Ala289Val) c.937C>T (p.Arg313Trp) c.821C>T (p.Ala274Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425677G>C | CA397394607 | AIPL1 | c.938C>G (p.Ala313Gly) c.749C>G (p.Ala250Gly) c.*810C>G (n.*810C>G) c.872C>G (p.Ala291Gly) c.251+8242C>G c.902C>G (p.Ala301Gly) c.*909C>G (n.*909C>G) c.758C>G (p.Ala253Gly) c.866C>G (p.Ala289Gly) c.937C>G (p.Arg313Gly) c.821C>G (p.Ala274Gly) | |
17 | g.6425677G= | CA2245346942 | AIPL1 | c.938C= (p.Ala313=) c.749C= (p.Ala250=) c.*810C= (n.*810C=) c.872C= (p.Ala291=) c.251+8242C= c.902C= (p.Ala301=) c.*909C= (n.*909C=) c.758C= (p.Ala253=) c.866C= (p.Ala289=) c.937C= (p.Arg313=) c.821C= (p.Ala274=) | |
17 | g.6425677G>T | CA397394608 | AIPL1 | c.938C>A (p.Ala313Glu) c.749C>A (p.Ala250Glu) c.*810C>A (n.*810C>A) c.872C>A (p.Ala291Glu) c.251+8242C>A c.902C>A (p.Ala301Glu) c.*909C>A (n.*909C>A) c.758C>A (p.Ala253Glu) c.866C>A (p.Ala289Glu) c.937C>A (p.Arg313=) c.821C>A (p.Ala274Glu) | gnomAD v4 |
17 | g.6425678C>A | CA228922 | AIPL1 | c.937G>T (p.Ala313Ser) c.748G>T (p.Ala250Ser) c.*809G>T (n.*809G>T) c.871G>T (p.Ala291Ser) c.251+8241G>T c.901G>T (p.Ala301Ser) c.*908G>T (n.*908G>T) c.757G>T (p.Ala253Ser) c.865G>T (p.Ala289Ser) c.936G>T (p.Trp312Cys) c.820G>T (p.Ala274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6425678C= | CA2245346946 | AIPL1 | c.937G= (p.Ala313=) c.748G= (p.Ala250=) c.*809G= (n.*809G=) c.871G= (p.Ala291=) c.251+8241G= c.901G= (p.Ala301=) c.*908G= (n.*908G=) c.757G= (p.Ala253=) c.865G= (p.Ala289=) c.936G= (p.Trp312=) c.820G= (p.Ala274=) | |
17 | g.6425678C>G | CA397394609 | AIPL1 | c.937G>C (p.Ala313Pro) c.748G>C (p.Ala250Pro) c.*809G>C (n.*809G>C) c.871G>C (p.Ala291Pro) c.251+8241G>C c.901G>C (p.Ala301Pro) c.*908G>C (n.*908G>C) c.757G>C (p.Ala253Pro) c.865G>C (p.Ala289Pro) c.936G>C (p.Trp312Cys) c.820G>C (p.Ala274Pro) | |
17 | g.6425678C>T | CA287323859 | AIPL1 | c.937G>A (p.Ala313Thr) c.748G>A (p.Ala250Thr) c.*809G>A (n.*809G>A) c.871G>A (p.Ala291Thr) c.251+8241G>A c.901G>A (p.Ala301Thr) c.*908G>A (n.*908G>A) c.757G>A (p.Ala253Thr) c.865G>A (p.Ala289Thr) c.936G>A (p.Trp312Ter) c.820G>A (p.Ala274Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.6425679dup | CA2245346944 | AIPL1 | c.937dup (p.Ala313GlyfsTer?) c.748dup (p.Ala250GlyfsTer?) c.*809dup (n.*809dup) c.871dup (p.Ala291GlyfsTer?) c.251+8241dup c.901dup (p.Ala301GlyfsTer?) c.*908dup (n.*908dup) c.757dup (p.Ala253GlyfsTer?) c.865dup (p.Ala289GlyfsTer?) c.936dup (p.Arg313AlafsTer?) c.820dup (p.Ala274GlyfsTer?) | dbSNP |
17 | g.6425679del | CA2838385222 | AIPL1 | c.937del (p.Ala313ArgfsTer15) c.748del (p.Ala250ArgfsTer15) c.*809del (n.*809del) c.871del (p.Ala291ArgfsTer15) c.251+8241del c.901del (p.Ala301ArgfsTer15) c.*908del (n.*908del) c.757del (p.Ala253ArgfsTer15) c.865del (p.Ala289ArgfsTer15) c.936del (p.Trp312CysfsTer?) c.820del (p.Ala274ArgfsTer15) | |
17 | g.6425679C>A | CA397394610 | AIPL1 | c.936G>T (p.Met312Ile) c.747G>T (p.Met249Ile) c.*808G>T (n.*808G>T) c.870G>T (p.Met290Ile) c.251+8240G>T c.900G>T (p.Met300Ile) c.*907G>T (n.*907G>T) c.756G>T (p.Met252Ile) c.864G>T (p.Met288Ile) c.935G>T (p.Trp312Leu) c.819G>T (p.Met273Ile) | |
17 | g.6425679C= | CA2245346948 | AIPL1 | c.936G= (p.Met312=) c.747G= (p.Met249=) c.*808G= (n.*808G=) c.870G= (p.Met290=) c.251+8240G= c.900G= (p.Met300=) c.*907G= (n.*907G=) c.756G= (p.Met252=) c.864G= (p.Met288=) c.935G= (p.Trp312=) c.819G= (p.Met273=) | |
17 | g.6425679C>G | CA397394611 | AIPL1 | c.936G>C (p.Met312Ile) c.747G>C (p.Met249Ile) c.*808G>C (n.*808G>C) c.870G>C (p.Met290Ile) c.251+8240G>C c.900G>C (p.Met300Ile) c.*907G>C (n.*907G>C) c.756G>C (p.Met252Ile) c.864G>C (p.Met288Ile) c.935G>C (p.Trp312Ser) c.819G>C (p.Met273Ile) | |
17 | g.6425679C>T | CA397394612 | AIPL1 | c.936G>A (p.Met312Ile) c.747G>A (p.Met249Ile) c.*808G>A (n.*808G>A) c.870G>A (p.Met290Ile) c.251+8240G>A c.900G>A (p.Met300Ile) c.*907G>A (n.*907G>A) c.756G>A (p.Met252Ile) c.864G>A (p.Met288Ile) c.935G>A (p.Trp312Ter) c.819G>A (p.Met273Ile) | dbSNP |
17 | g.6425680A= | CA2245346950 | AIPL1 | c.935T= (p.Met312=) c.746T= (p.Met249=) c.*807T= (n.*807T=) c.869T= (p.Met290=) c.251+8239T= c.899T= (p.Met300=) c.*906T= (n.*906T=) c.755T= (p.Met252=) c.863T= (p.Met288=) c.934T= (p.Trp312=) c.818T= (p.Met273=) | |
17 | g.6425680A>C | CA397394613 | AIPL1 | c.935T>G (p.Met312Arg) c.746T>G (p.Met249Arg) c.*807T>G (n.*807T>G) c.869T>G (p.Met290Arg) c.251+8239T>G c.899T>G (p.Met300Arg) c.*906T>G (n.*906T>G) c.755T>G (p.Met252Arg) c.863T>G (p.Met288Arg) c.934T>G (p.Trp312Gly) c.818T>G (p.Met273Arg) | dbSNP |
17 | g.6425680A>G | CA397394614 | AIPL1 | c.935T>C (p.Met312Thr) c.746T>C (p.Met249Thr) c.*807T>C (n.*807T>C) c.869T>C (p.Met290Thr) c.251+8239T>C c.899T>C (p.Met300Thr) c.*906T>C (n.*906T>C) c.755T>C (p.Met252Thr) c.863T>C (p.Met288Thr) c.934T>C (p.Trp312Arg) c.818T>C (p.Met273Thr) | dbSNP |
17 | g.6425680A>T | CA397394615 | AIPL1 | c.935T>A (p.Met312Lys) c.746T>A (p.Met249Lys) c.*807T>A (n.*807T>A) c.869T>A (p.Met290Lys) c.251+8239T>A c.899T>A (p.Met300Lys) c.*906T>A (n.*906T>A) c.755T>A (p.Met252Lys) c.863T>A (p.Met288Lys) c.934T>A (p.Trp312Arg) c.818T>A (p.Met273Lys) | |
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=) |