AKAP13 A-kinase anchoring protein 13

Canonical transcript: NM_007200

476 unique variant annotations were identified in 187 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-85926840-A-G c.-12+2811A>G - intron_variant - 1/36 2
15-85937310-G-A c.-12+13281G>A - intron_variant - 1/36 1
15-85946265-C-T c.-12+22236C>T - intron_variant - 1/36 1
15-85951446-T-C c.-12+27417T>C - intron_variant - 1/36 1
15-85951718-T-A c.-12+27689T>A - intron_variant - 1/36 2
15-85951718-T-G c.-12+27689T>G - intron_variant - 1/36 2
15-85959986-C-T c.-12+35957C>T - intron_variant - 1/36 1
15-85967997-T-C c.-12+43968T>C - intron_variant - 1/36 1
15-85971935-C-T c.-12+47906C>T - intron_variant - 1/36 1
15-85974898-A-G c.-12+50869A>G - intron_variant - 1/36 1
15-85983503-T-C c.-11-45438T>C - IntronicSNV - 1/36 1
15-85984183-G-A c.-11-44758G>A - IntronicSNV - 1/36 1
15-85984183-G-C c.-11-44758G>C - IntronicSNV - 1/36 1
15-85986722-G-A c.-11-42219G>A - IntronicSNV - 1/36 1
15-85986722-G-C c.-11-42219G>C - IntronicSNV - 1/36 1
15-85998741-T-C c.-11-30200T>C - IntronicSNV - 1/36 1
15-85998741-T-G c.-11-30200T>G - IntronicSNV - 1/36 1
15-86000503-C-A c.-11-28438C>A - IntronicSNV - 1/36 1
15-86000503-C-T c.-11-28438C>T - IntronicSNV - 1/36 1
15-86001106-C-G c.-11-27835C>G - IntronicSNV - 1/36 1
15-86001106-C-T c.-11-27835C>T - IntronicSNV - 1/36 1
15-86002027-G-A c.-11-26914G>A - IntronicSNV - 1/36 1
15-86002027-G-T c.-11-26914G>T - IntronicSNV - 1/36 1
15-86009293-G-A c.-11-19648G>A - IntronicSNV - 1/36 1
15-86009293-G-C c.-11-19648G>C - IntronicSNV - 1/36 1
15-86010345-A-C c.-11-18596A>C - IntronicSNV - 1/36 1
15-86013059-G-C c.-11-15882G>C - IntronicSNV - 1/36 1
15-86013665-A-G c.-11-15276A>G - IntronicSNV - 1/36 1
15-86018173-C-T c.-11-10768C>T - IntronicSNV - 1/36 1
15-86018746-C-T c.-11-10195C>T - IntronicSNV - 1/36 1
15-86021187-G-A c.-11-7754G>A - IntronicSNV - 1/36 1
15-86027453-A-G c.-11-1488A>G - IntronicSNV - 1/36 1
15-86027984-C-A c.-11-957C>A - IntronicSNV - 1/36 1
15-86028966-A-G c.15A>G p.Pro5Pro Synonymous 2/37 - 1
15-86033184-T-C c.33+4200T>C - IntronicSNV - 2/36 1
15-86033184-T-G c.33+4200T>G - IntronicSNV - 2/36 1
15-86037993-T-G c.33+9009T>G - IntronicSNV - 2/36 1
15-86039564-T-G c.33+10580T>G - IntronicSNV - 2/36 2
15-86047286-C-T c.34-17373C>T - IntronicSNV - 2/36 2
15-86050890-A-T c.34-13769A>T - IntronicSNV - 2/36 1
15-86052670-G-C c.34-11989G>C - IntronicSNV - 2/36 1
15-86052670-G-T c.34-11989G>T - IntronicSNV - 2/36 1
15-86054490-T-C c.34-10169T>C - IntronicSNV - 2/36 1
15-86054490-T-G c.34-10169T>G - IntronicSNV - 2/36 1
15-86056462-A-T c.34-8197A>T - IntronicSNV - 2/36 5
15-86061271-A-G c.34-3388A>G - IntronicSNV - 2/36 1
15-86061271-A-T c.34-3388A>T - IntronicSNV - 2/36 1
15-86064659-G-A c.34G>A p.Gly12Ser Missense 3/37 - 1
15-86064659-G-C c.34G>C p.Gly12Arg Missense 3/37 - 1
15-86064659-G-T c.34G>T p.Gly12Cys Missense 3/37 - 1
15-86064660-G-A c.35G>A p.Gly12Asp Missense 3/37 - 1
15-86064660-G-C c.35G>C p.Gly12Ala Missense 3/37 - 1
15-86064660-G-T c.35G>T p.Gly12Val Missense 3/37 - 3
15-86064667-T-C c.42T>C p.Cys14Cys Synonymous 3/37 - 1
15-86064675-CA-AC c.50_51delinsAC p.Thr17Asn Missense 3/37 - 1
15-86064706-A-G c.81A>G p.Glu27Glu Synonymous 3/37 - 1
15-86064707-GAT-AAG c.82_84delinsAAG p.Asp28Lys Missense 3/37 - 1
15-86064710-GA-CC c.85_86delinsCC p.Asp29Pro Missense 3/37 - 1
15-86064755-TG-CT c.130_131delinsCT p.Cys44Leu Missense 3/37 - 1
15-86064764-AC-GA c.139_140delinsGA p.Thr47Asp Missense 3/37 - 6
15-86064767-CGG-AGC c.142_144delinsAGC p.Arg48Ser Missense 3/37 - 1
15-86064767-CGG-TGT c.142_144delinsTGT p.Arg48Cys Missense 3/37 - 1
15-86064775-C-G c.150C>G p.Val50Val Synonymous 3/37 - 1
15-86064909-T-C c.181+103T>C - IntronicSNV - 3/36 2
15-86064909-T-G c.181+103T>G - IntronicSNV - 3/36 2
15-86067306-G-A c.181+2500G>A - IntronicSNV - 3/36 2
15-86067896-A-C c.181+3090A>C - IntronicSNV - 3/36 1
15-86067963-C-T c.181+3157C>T - IntronicSNV - 3/36 1
15-86070069-G-A c.181+5263G>A - IntronicSNV - 3/36 1
15-86070069-G-C c.181+5263G>C - IntronicSNV - 3/36 1
15-86070797-A-G c.181+5991A>G - IntronicSNV - 3/36 1
15-86072126-A-C c.182-4689A>C - IntronicSNV - 3/36 1
15-86074906-C-T c.182-1909C>T - IntronicSNV - 3/36 1
15-86075417-A-G c.182-1398A>G - IntronicSNV - 3/36 1
15-86075462-A-C c.182-1353A>C - IntronicSNV - 3/36 1
15-86076584-A-G c.182-231A>G - IntronicSNV - 3/36 1
15-86076823-T-G c.190T>G p.Cys64Gly Missense 4/37 - 1
15-86076830-A-G c.197A>G p.Glu66Gly Missense 4/37 - 1
15-86076904-T-C c.271T>C p.Phe91Leu Missense 4/37 - 1
15-86076906-C-A c.273C>A p.Phe91Leu Missense 4/37 - 1
15-86076906-C-G c.273C>G p.Phe91Leu Missense 4/37 - 1
15-86076907-G-A c.274G>A p.Val92Ile Missense 4/37 - 1
15-86076917-A-G c.284A>G p.Glu95Gly Missense 4/37 - 1
15-86076924-T-A c.291T>A p.Tyr97* Nonsense 4/37 - 1
15-86076924-T-G c.291T>G p.Tyr97* Nonsense 4/37 - 1
15-86076949-A-G c.316A>G p.Ser106Gly Missense 4/37 - 1
15-86076966-G-C c.333G>C p.Gln111His Missense 4/37 - 1
15-86076972-G-A c.339G>A p.Leu113Leu Synonymous 4/37 - 1
15-86076985-T-C c.352T>C p.Phe118Leu Missense 4/37 - 1
15-86076992-A-G c.359A>G p.Asp120Gly Missense 4/37 - 1
15-86077001-G-A c.368G>A p.Gly123Glu Missense 4/37 - 1
15-86077003-C-A c.370C>A p.Pro124Thr Missense 4/37 - 1
15-86077003-C-G c.370C>G p.Pro124Ala Missense 4/37 - 1
15-86077004-CC-AA c.371_372delinsAA p.Pro124Gln Missense 4/37 - 1
15-86077033-A-G c.400A>G p.Lys134Glu Missense 4/37 - 1
15-86077034-A-G c.401A>G p.Lys134Arg Missense 4/37 - 1
15-86077089-G-C c.456G>C p.Leu152Phe Missense 4/37 - 1
15-86077089-G-T c.456G>T p.Leu152Phe Missense 4/37 - 1
15-86077091-G-A c.458G>A p.Gly153Glu Missense 4/37 - 1
15-86077105-TT-GC c.472_473delinsGC p.Leu158Ala Missense 4/37 - 1
15-86077189-A-G c.478+78A>G - IntronicSNV - 4/36 2
15-86079115-C-G c.478+2004C>G - IntronicSNV - 4/36 2
15-86079115-C-T c.478+2004C>T - IntronicSNV - 4/36 2
15-86081278-A-C c.478+4167A>C - IntronicSNV - 4/36 1
15-86081278-A-T c.478+4167A>T - IntronicSNV - 4/36 1
15-86085120-A-G c.479-1883A>G - IntronicSNV - 4/36 1
15-86085543-A-G c.479-1460A>G - IntronicSNV - 4/36 1
15-86085776-T-A c.479-1227T>A - IntronicSNV - 4/36 1
15-86085776-T-C c.479-1227T>C - IntronicSNV - 4/36 1
15-86085802-G-A c.479-1201G>A - IntronicSNV - 4/36 4
15-86086733-A-G c.479-270A>G - IntronicSNV - 4/36 2
15-86087015-G-A c.491G>A p.Arg164Gln Missense 5/37 - 1
15-86087017-GA-AG c.493_494delinsAG p.Glu165Arg Missense 5/37 - 1
15-86087024-T-C c.500T>C p.Leu167Ser Missense 5/37 - 1
15-86087027-T-C c.503T>C p.Met168Thr Missense 5/37 - 1
15-86087047-GGA-AGC c.523_525delinsAGC p.Gly175Ser Missense 5/37 - 1
15-86087062-ACG-TGT c.538_540delinsTGT p.Thr180Cys Missense 5/37 - 1
15-86087092-C-T c.568C>T p.Arg190Cys Missense 5/37 - 2
15-86087095-G-A c.571G>A p.Gly191Arg Missense 5/37 - 2
15-86087131-C-T c.607C>T p.Pro203Ser Missense 5/37 - 1
15-86087140-TT-AG c.616_617delinsAG p.Leu206Arg Missense 5/37 - 1
15-86087157-C-A c.633C>A p.Gly211Gly Synonymous 5/37 - 1
15-86087157-C-G c.633C>G p.Gly211Gly Synonymous 5/37 - 1
15-86087157-C-T c.633C>T p.Gly211Gly Synonymous 5/37 - 1
15-86087309-T-C c.662+123T>C - IntronicSNV - 5/36 3
15-86088342-C-A c.662+1156C>A - IntronicSNV - 5/36 1
15-86089290-A-G c.662+2104A>G - IntronicSNV - 5/36 1
15-86097216-G-A c.662+10030G>A - IntronicSNV - 5/36 1
15-86097216-G-C c.662+10030G>C - IntronicSNV - 5/36 1
15-86098669-C-G c.662+11483C>G - IntronicSNV - 5/36 1
15-86103176-A-G c.663-15186A>G - IntronicSNV - 5/36 2
15-86106797-A-C c.663-11565A>C - IntronicSNV - 5/36 1
15-86106797-A-T c.663-11565A>T - IntronicSNV - 5/36 1
15-86112429-A-T c.663-5933A>T - IntronicSNV - 5/36 1
15-86114448-A-G c.663-3914A>G - IntronicSNV - 5/36 1
15-86115900-A-T c.663-2462A>T - IntronicSNV - 5/36 1
15-86117028-A-AA c.663-1334dup - IntronicInsertion - 5/36 1
15-86118366-A-T c.667A>T p.Asn223Tyr Missense 6/37 - 2
15-86118373-G-C c.674G>C p.Gly225Ala Missense 6/37 - 1
15-86118377-A-G c.678A>G p.Glu226Glu Synonymous 6/37 - 1
15-86118391-G-A c.692G>A p.Ser231Asn Missense 6/37 - 1
15-86118399-TCC-GAG c.700_702delinsGAG p.Ser234Glu Missense 6/37 - 1
15-86118399-TC-GA c.700_701inv p.Ser234Asp Missense 6/37 - 1
15-86118399-T-G c.700T>G p.Ser234Ala Missense 6/37 - 1
15-86118407-A-C c.708A>C p.Glu236Asp Missense 6/37 - 1
15-86118407-A-T c.708A>T p.Glu236Asp Missense 6/37 - 1
15-86118408-A-C c.709A>C p.Ile237Leu Missense 6/37 - 1
15-86118424-G-A c.725G>A p.Cys242Tyr Missense 6/37 - 1
15-86118436-A-G c.737A>G p.His246Arg Missense 6/37 - 1
15-86118456-T-C c.757T>C p.Tyr253His Missense 6/37 - 2
15-86118457-A-G c.758A>G p.Tyr253Cys Missense 6/37 - 1
15-86118457-A-T c.758A>T p.Tyr253Phe Missense 6/37 - 3
15-86118465-A-G c.766A>G p.Thr256Ala Missense 6/37 - 1
15-86118474-T-G c.775T>G p.Ser259Ala Missense 6/37 - 1
15-86118493-A-C c.794A>C p.His265Pro Missense 6/37 - 1
15-86118516-A-C c.817A>C p.Thr273Pro Missense 6/37 - 1
15-86118552-C-A c.853C>A p.Gln285Lys Missense 6/37 - 2
15-86119399-T-C c.861+839T>C - IntronicSNV - 6/36 1
15-86122185-AG-GC c.886_887delinsGC p.Ser296Ala Missense 7/37 - 1
15-86122218-C-G c.919C>G p.Pro307Ala Missense 7/37 - 1
15-86122221-T-C c.922T>C p.Ser308Pro Missense 7/37 - 1
15-86122248-T-A c.949T>A p.Phe317Ile Missense 7/37 - 1
15-86122248-T-C c.949T>C p.Phe317Leu Missense 7/37 - 4
15-86122250-T-A c.951T>A p.Phe317Leu Missense 7/37 - 4
15-86122250-T-G c.951T>G p.Phe317Leu Missense 7/37 - 4
15-86122257-T-C c.958T>C p.Cys320Arg Missense 7/37 - 1
15-86122273-C-G c.974C>G p.Thr325Arg Missense 7/37 - 1
15-86122299-G-A c.1000G>A p.Glu334Lys Missense 7/37 - 1
15-86122299-G-T c.1000G>T p.Glu334* Nonsense 7/37 - 1
15-86122314-A-C c.1015A>C p.Thr339Pro Missense 7/37 - 1
15-86122330-G-A c.1031G>A p.Gly344Glu Missense 7/37 - 1
15-86122343-A-G c.1044A>G p.Ala348Ala Synonymous 7/37 - 1
15-86122347-AC-GG c.1048_1049delinsGG p.Thr350Gly Missense 7/37 - 1
15-86122353-A-C c.1054A>C p.Ser352Arg Missense 7/37 - 1
15-86122355-T-C c.1056T>C p.Ser352Ser Synonymous 7/37 - 1
15-86122361-T-C c.1062T>C p.Cys354Cys Synonymous 7/37 - 1
15-86122381-A-C c.1082A>C p.Glu361Ala Missense 7/37 - 1
15-86122419-AAA-TTT c.1120_1122inv p.Lys374Phe Missense 7/37 - 1
15-86122440-G-A c.1141G>A p.Glu381Lys Missense 7/37 - 1
15-86122489-A-C c.1190A>C p.Gln397Pro Missense 7/37 - 1
15-86122528-A-G c.1229A>G p.Lys410Arg Missense 7/37 - 1
15-86122549-C-A c.1250C>A p.Ser417Tyr Missense 7/37 - 1
15-86122604-C-A c.1305C>A p.Asp435Glu Missense 7/37 - 1
15-86122605-C-G c.1306C>G p.Gln436Glu Missense 7/37 - 1
15-86122612-C-T c.1313C>T p.Ser438Phe Missense 7/37 - 1
15-86122627-A-G c.1328A>G p.Asp443Gly Missense 7/37 - 1
15-86122654-T-C c.1355T>C p.Met452Thr Missense 7/37 - 14
15-86122656-G-C c.1357G>C p.Glu453Gln Missense 7/37 - 1
15-86122669-C-G c.1370C>G p.Ala457Gly Missense 7/37 - 1
15-86122677-T-C c.1378T>C p.Ser460Pro Missense 7/37 - 1
15-86122687-G-A c.1388G>A p.Gly463Asp Missense 7/37 - 1
15-86122728-G-A c.1429G>A p.Asp477Asn Missense 7/37 - 1
15-86122729-A-G c.1430A>G p.Asp477Gly Missense 7/37 - 1
15-86122768-A-G c.1469A>G p.Asp490Gly Missense 7/37 - 1
15-86122779-T-C c.1480T>C p.Trp494Arg Missense 7/37 - 4
15-86122779-T-G c.1480T>G p.Trp494Gly Missense 7/37 - 4
15-86122788-G-A c.1489G>A p.Val497Met Missense 7/37 - 1
15-86122790-G-A c.1491G>A p.Val497Val Synonymous 7/37 - 1
15-86122790-G-C c.1491G>C p.Val497Val Synonymous 7/37 - 1
15-86122826-G-C c.1527G>C p.Glu509Asp Missense 7/37 - 1
15-86122826-G-T c.1527G>T p.Glu509Asp Missense 7/37 - 1
15-86122875-A-C c.1576A>C p.Lys526Gln Missense 7/37 - 6
15-86122899-C-A c.1600C>A p.Pro534Thr Missense 7/37 - 1
15-86122916-T-C c.1617T>C p.Ala539Ala Synonymous 7/37 - 2
15-86122928-G-A c.1629G>A p.Leu543Leu Synonymous 7/37 - 1
15-86122970-T-C c.1671T>C p.Asn557Asn Synonymous 7/37 - 1
15-86123019-C-T c.1720C>T p.Arg574Cys Missense 7/37 - 7
15-86123112-A-G c.1813A>G p.Thr605Ala Missense 7/37 - 1
15-86123120-A-C c.1821A>C p.Leu607Phe Missense 7/37 - 1
15-86123120-A-T c.1821A>T p.Leu607Phe Missense 7/37 - 1
15-86123170-G-T c.1871G>T p.Gly624Val Missense 7/37 - 8
15-86123216-A-C c.1917A>C p.Ser639Ser Synonymous 7/37 - 1
15-86123216-A-G c.1917A>G p.Ser639Ser Synonymous 7/37 - 1
15-86123230-G-A c.1931G>A p.Ser644Asn Missense 7/37 - 1
15-86123231-C-T c.1932C>T p.Ser644Ser Synonymous 7/37 - 1
15-86123350-A-C c.2051A>C p.Asp684Ala Missense 7/37 - 1
15-86123364-G-A c.2065G>A p.Glu689Lys Missense 7/37 - 6
15-86123376-A-C c.2077A>C p.Thr693Pro Missense 7/37 - 1
15-86123462-T-C c.2163T>C p.Pro721Pro Synonymous 7/37 - 1
15-86123634-G-C c.2335G>C p.Val779Leu Missense 7/37 - 2
15-86123634-G-T c.2335G>T p.Val779Leu Missense 7/37 - 2
15-86123666-C-A c.2367C>A p.Asn789Lys Missense 7/37 - 1
15-86123666-C-G c.2367C>G p.Asn789Lys Missense 7/37 - 1
15-86123672-A-G c.2373A>G p.Pro791Pro Synonymous 7/37 - 1
15-86123698-A-G c.2399A>G p.Asp800Gly Missense 7/37 - 1
15-86123712-G-A c.2413G>A p.Val805Ile Missense 7/37 - 1
15-86123725-AAA-A c.2426_2427del p.Lys809Argfs*8 Frameshift 7/37 - 1
15-86123770-A-T c.2471A>T p.Tyr824Phe Missense 7/37 - 1
15-86123809-C-A c.2510C>A p.Thr837Lys Missense 7/37 - 2
15-86123809-C-T c.2510C>T p.Thr837Met Missense 7/37 - 2
15-86123833-T-C c.2534T>C p.Val845Ala Missense 7/37 - 4
15-86123833-T-G c.2534T>G p.Val845Gly Missense 7/37 - 4
15-86123851-C-T c.2552C>T p.Ser851Phe Missense 7/37 - 2
15-86123889-A-T c.2590A>T p.Ser864Cys Missense 7/37 - 1
15-86123908-G-C c.2609G>C p.Gly870Ala Missense 7/37 - 1
15-86123922-C-T c.2623C>T p.Pro875Ser Missense 7/37 - 1
15-86123924-C-T c.2625C>T p.Pro875Pro Synonymous 7/37 - 2
15-86123964-A-G c.2665A>G p.Asn889Asp Missense 7/37 - 1
15-86123988-G-A c.2689G>A p.Val897Met Missense 7/37 - 6
15-86124031-A-C c.2732A>C p.Glu911Ala Missense 7/37 - 1
15-86124036-A-G c.2737A>G p.Lys913Glu Missense 7/37 - 1
15-86124089-A-C c.2790A>C p.Lys930Asn Missense 7/37 - 1
15-86124140-G-C c.2841G>C p.Leu947Phe Missense 7/37 - 1
15-86124140-G-T c.2841G>T p.Leu947Phe Missense 7/37 - 1
15-86124141-C-T c.2842C>T p.Gln948* Nonsense 7/37 - 1
15-86124147-G-T c.2848G>T p.Glu950* Nonsense 7/37 - 1
15-86124243-A-G c.2944A>G p.Asn982Asp Missense 7/37 - 1
15-86124419-C-T c.3120C>T p.Ser1040Ser Synonymous 7/37 - 2
15-86124461-C-T c.3162C>T p.Ser1054Ser Synonymous 7/37 - 1
15-86124465-G-C c.3166G>C p.Ala1056Pro Missense 7/37 - 1
15-86124483-C-G c.3184C>G p.Pro1062Ala Missense 7/37 - 3
15-86124555-G-A c.3256G>A p.Asp1086Asn Missense 7/37 - 5
15-86124555-G-C c.3256G>C p.Asp1086His Missense 7/37 - 5
15-86124616-A-G c.3317A>G p.Glu1106Gly Missense 7/37 - 1
15-86124712-A-G c.3413A>G p.Asp1138Gly Missense 7/37 - 1
15-86124824-G-A c.3525G>A p.Glu1175Glu Synonymous 7/37 - 1
15-86124824-G-T c.3525G>T p.Glu1175Asp Missense 7/37 - 1
15-86124930-G-C c.3631G>C p.Gly1211Arg Missense 7/37 - 1
15-86124946-T-C c.3647T>C p.Met1216Thr Missense 7/37 - 3
15-86124968-G-A c.3669G>A p.Arg1223Arg Synonymous 7/37 - 2
15-86125031-G-A c.3732G>A p.Gly1244Gly Synonymous 7/37 - 2
15-86125041-A-G c.3742A>G p.Ile1248Val Missense 7/37 - 1
15-86125050-G-A c.3751G>A p.Ala1251Thr Missense 7/37 - 1
15-86125050-G-C c.3751G>C p.Ala1251Pro Missense 7/37 - 3
15-86125056-A-C c.3757A>C p.Ser1253Arg Missense 7/37 - 1
15-86125058-C-A c.3759C>A p.Ser1253Arg Missense 7/37 - 1
15-86125058-C-G c.3759C>G p.Ser1253Arg Missense 7/37 - 1
15-86125059-C-T c.3760C>T p.Arg1254Cys Missense 7/37 - 1
15-86125065-G-A c.3766G>A p.Val1256Met Missense 7/37 - 1
15-86125069-A-T c.3770A>T p.Asp1257Val Missense 7/37 - 1
15-86125077-AT-CC c.3778_3779delinsCC p.Ile1260Pro Missense 7/37 - 1
15-86125080-G-A c.3781G>A p.Glu1261Lys Missense 7/37 - 1
15-86125081-A-T c.3782A>T p.Glu1261Val Missense 7/37 - 1
15-86125089-A-G c.3790A>G p.Lys1264Glu Missense 7/37 - 1
15-86125304-C-G c.4005C>G p.Ile1335Met Missense 7/37 - 1
15-86125304-C-T c.4005C>T p.Ile1335Ile Synonymous 7/37 - 1
15-86125728-T-G c.4039+390T>G - IntronicSNV - 7/36 1
15-86126275-C-A c.4039+937C>A - IntronicSNV - 7/36 1
15-86128150-G-C c.4040-783G>C - IntronicSNV - 7/36 2
15-86128641-T-A c.4040-292T>A - IntronicSNV - 7/36 3
15-86128717-C-A c.4040-216C>A - IntronicSNV - 7/36 1
15-86128717-C-T c.4040-216C>T - IntronicSNV - 7/36 1
15-86128956-G-A c.4063G>A p.Asp1355Asn Missense 8/37 - 1
15-86129033-G-C c.4140G>C p.Lys1380Asn Missense 8/37 - 1
15-86129042-A-C c.4149A>C p.Pro1383Pro Synonymous 8/37 - 1
15-86132008-C-G c.4161+2954C>G - IntronicSNV - 8/36 2
15-86133259-T-G c.4161+4205T>G - IntronicSNV - 8/36 1
15-86134332-T-C c.4161+5278T>C - IntronicSNV - 8/36 2
15-86140479-A-G c.4161+11425A>G - IntronicSNV - 8/36 1
15-86140534-G-A c.4161+11480G>A - IntronicSNV - 8/36 1
15-86140534-G-T c.4161+11480G>T - IntronicSNV - 8/36 1
15-86142745-C-A c.4161+13691C>A - IntronicSNV - 8/36 1
15-86144100-C-G c.4161+15046C>G - IntronicSNV - 8/36 1
15-86144181-A-G c.4161+15127A>G - IntronicSNV - 8/36 1
15-86144181-A-T c.4161+15127A>T - IntronicSNV - 8/36 1
15-86148438-G-A c.4161+19384G>A - IntronicSNV - 8/36 1
15-86148835-G-A c.4161+19781G>A - IntronicSNV - 8/36 1
15-86153324-A-G c.4161+24270A>G - IntronicSNV - 8/36 1
15-86159262-A-G c.4162-23343A>G - IntronicSNV - 8/36 1
15-86159262-A-T c.4162-23343A>T - IntronicSNV - 8/36 1
15-86160268-A-G c.4162-22337A>G - IntronicSNV - 8/36 1
15-86160441-A-T c.4162-22164A>T - IntronicSNV - 8/36 3
15-86167386-A-C c.4162-15219A>C - IntronicSNV - 8/36 1
15-86167386-A-G c.4162-15219A>G - IntronicSNV - 8/36 1
15-86170255-G-A c.4162-12350G>A - IntronicSNV - 8/36 1
15-86170992-G-A c.4162-11613G>A - IntronicSNV - 8/36 2
15-86182649-A-C c.4206A>C p.Ala1402Ala Synonymous 9/37 - 1
15-86182670-G-A c.4227G>A p.Lys1409Lys Synonymous 9/37 - 1
15-86186511-C-A c.4238-2538C>A - IntronicSNV - 9/36 1
15-86186511-C-G c.4238-2538C>G - IntronicSNV - 9/36 1
15-86186511-C-T c.4238-2538C>T - IntronicSNV - 9/36 1
15-86189081-A-G c.4270A>G p.Arg1424Gly Missense 10/37 - 1
15-86191555-C-G c.4374+2370C>G - IntronicSNV - 10/36 1
15-86191555-C-T c.4374+2370C>T - IntronicSNV - 10/36 1
15-86192229-A-G c.4374+3044A>G - IntronicSNV - 10/36 1
15-86192416-G-A c.4374+3231G>A - IntronicSNV - 10/36 1
15-86194559-A-T c.4375-4089A>T - IntronicSNV - 10/36 1
15-86195731-A-G c.4375-2917A>G - IntronicSNV - 10/36 2
15-86197240-G-A c.4375-1408G>A - IntronicSNV - 10/36 1
15-86198561-G-C c.4375-87G>C - IntronicSNV - 10/36 1
15-86198674-T-C c.4401T>C p.Asp1467Asp Synonymous 11/37 - 1
15-86198697-C-G c.4424C>G p.Thr1475Ser Missense 11/37 - 1
15-86198792-AG-CT c.4519_4520inv p.Ser1507Leu Missense 11/37 - 1
15-86198831-G-T c.4558G>T p.Gly1520Cys Missense 11/37 - 1
15-86198966-AG-GC c.4693_4694delinsGC p.Ser1565Ala Missense 11/37 - 3
15-86200699-G-A c.4746-1069G>A - IntronicSNV - 11/36 1
15-86201818-G-A c.4796G>A p.Arg1599Lys Missense 12/37 - 1
15-86205189-A-G c.4800-2605A>G - IntronicSNV - 12/36 1
15-86207796-T-G c.4802T>G p.Phe1601Cys Missense 13/37 - 1
15-86209006-G-A c.4992+1020G>A - IntronicSNV - 13/36 1
15-86211757-G-A c.4993-1196G>A - IntronicSNV - 13/36 1
15-86212295-C-T c.4993-658C>T - IntronicSNV - 13/36 1
15-86213020-A-G c.5060A>G p.Lys1687Arg Missense 14/37 - 1
15-86213596-G-A c.5101+535G>A - IntronicSNV - 14/36 1
15-86214798-G-A c.5101+1737G>A - IntronicSNV - 14/36 1
15-86214879-T-C c.5101+1818T>C - IntronicSNV - 14/36 1
15-86217550-C-A c.5101+4489C>A - IntronicSNV - 14/36 1
15-86218073-A-C c.5101+5012A>C - IntronicSNV - 14/36 1
15-86218073-A-G c.5101+5012A>G - IntronicSNV - 14/36 1
15-86218284-C-G c.5101+5223C>G - IntronicSNV - 14/36 1
15-86218310-C-A c.5101+5249C>A - IntronicSNV - 14/36 1
15-86218734-C-G c.5101+5673C>G - IntronicSNV - 14/36 1
15-86218767-C-G c.5101+5706C>G - IntronicSNV - 14/36 1
15-86221936-A-G c.5102-3453A>G - IntronicSNV - 14/36 1
15-86223390-T-G c.5102-1999T>G - IntronicSNV - 14/36 1
15-86224570-G-A c.5102-819G>A - IntronicSNV - 14/36 1
15-86226297-A-G c.5156+854A>G - IntronicSNV - 15/36 1
15-86226781-C-A c.5157-1191C>A - IntronicSNV - 15/36 1
15-86226920-T-C c.5157-1052T>C - IntronicSNV - 15/36 1
15-86228063-AG-TT c.5248_5249delinsTT p.Ser1750Phe Missense 16/37 - 1
15-86228557-C-A c.5289+453C>A - IntronicSNV - 16/36 1
15-86228557-C-G c.5289+453C>G - IntronicSNV - 16/36 1
15-86228557-C-T c.5289+453C>T - IntronicSNV - 16/36 1
15-86229053-C-T c.5289+949C>T - IntronicSNV - 16/36 1
15-86230290-C-T c.5289+2186C>T - IntronicSNV - 16/36 2
15-86230839-T-C c.5289+2735T>C - IntronicSNV - 16/36 1
15-86233009-G-C c.5290-3499G>C - IntronicSNV - 16/36 2
15-86233351-C-T c.5290-3157C>T - IntronicSNV - 16/36 2
15-86233851-A-G c.5290-2657A>G - IntronicSNV - 16/36 1
15-86235235-T-C c.5290-1273T>C - IntronicSNV - 16/36 1
15-86235235-T-G c.5290-1273T>G - IntronicSNV - 16/36 1
15-86235507-A-G c.5290-1001A>G - IntronicSNV - 16/36 1
15-86236066-A-G c.5290-442A>G - IntronicSNV - 16/36 1
15-86239492-C-T c.5464+2810C>T - IntronicSNV - 17/36 1
15-86239770-A-C c.5464+3088A>C - IntronicSNV - 17/36 1
15-86244085-A-G c.5465-7165A>G - IntronicSNV - 17/36 1
15-86245928-A-G c.5465-5322A>G - IntronicSNV - 17/36 1
15-86246447-C-G c.5465-4803C>G - IntronicSNV - 17/36 1
15-86247995-G-T c.5465-3255G>T - IntronicSNV - 17/36 1
15-86249722-G-A c.5465-1528G>A - IntronicSNV - 17/36 1
15-86250882-C-G c.5465-368C>G - IntronicSNV - 17/36 1
15-86252520-T-C c.5532+1203T>C - IntronicSNV - 18/36 1
15-86252520-T-G c.5532+1203T>G - IntronicSNV - 18/36 1
15-86253768-T-A c.5533-42T>A - IntronicSNV - 18/36 1
15-86253813-C-T c.5536C>T p.Pro1846Ser Missense 19/37 - 1
15-86256055-G-A c.5599+2179G>A - IntronicSNV - 19/36 1
15-86257157-C-T c.5600-1862C>T - IntronicSNV - 19/36 1
15-86258568-A-T c.5600-451A>T - IntronicSNV - 19/36 1
15-86259470-G-T c.5735+316G>T - IntronicSNV - 20/36 1
15-86259539-C-T c.5735+385C>T - IntronicSNV - 20/36 1
15-86260700-C-T c.5848+67C>T - IntronicSNV - 21/36 1
15-86261241-T-C c.5852T>C p.Val1951Ala Missense 22/37 - 1
15-86261261-G-A c.5872G>A p.Gly1958Arg Missense 22/37 - 1
15-86262307-A-C c.6002A>C p.Glu2001Ala Missense 23/37 - 1
15-86262383-G-A c.6078G>A p.Ala2026Ala Synonymous 23/37 - 1
15-86262383-G-C c.6078G>C p.Ala2026Ala Synonymous 23/37 - 1
15-86262404-G-C c.6099G>C p.Gln2033His Missense 23/37 - 1
15-86262404-G-T c.6099G>T p.Gln2033His Missense 23/37 - 1
15-86262436-A-G c.6131A>G p.Glu2044Gly Missense 23/37 - 1
15-86262459-T-C c.6154T>C p.Phe2052Leu Missense 23/37 - 1
15-86262461-C-A c.6156C>A p.Phe2052Leu Missense 23/37 - 1
15-86262461-C-G c.6156C>G p.Phe2052Leu Missense 23/37 - 1
15-86263529-T-A c.6252+972T>A - IntronicSNV - 23/36 1
15-86265237-G-A c.6268G>A p.Ala2090Thr Missense 24/37 - 1
15-86265488-A-G c.6406A>G p.Arg2136Gly Missense 25/37 - 1
15-86265540-A-T c.6458A>T p.Tyr2153Phe Missense 25/37 - 1
15-86265644-G-A c.6496+66G>A - IntronicSNV - 25/36 2
15-86265663-T-A c.6496+85T>A - IntronicSNV - 25/36 1
15-86265782-A-C c.6496+204A>C - IntronicSNV - 25/36 1
15-86266326-C-A c.6520C>A p.Leu2174Ile Missense 26/37 - 1
15-86266347-G-C c.6541G>C p.Val2181Leu Missense 26/37 - 1
15-86266347-G-T c.6541G>T p.Val2181Leu Missense 26/37 - 1
15-86266386-A-C c.6580A>C p.Ser2194Arg Missense 26/37 - 1
15-86266388-T-A c.6582T>A p.Ser2194Arg Missense 26/37 - 1
15-86266388-T-G c.6582T>G p.Ser2194Arg Missense 26/37 - 1
15-86266492-G-A c.6686G>A p.Arg2229Gln Missense 26/37 - 1
15-86266492-G-T c.6686G>T p.Arg2229Leu Missense 26/37 - 1
15-86266516-G-A c.6710G>A p.Ser2237Asn Missense 26/37 - 1
15-86267393-G-A c.6745+842G>A - IntronicSNV - 26/36 1
15-86268630-G-A c.6746-1011G>A - IntronicSNV - 26/36 1
15-86268631-C-A c.6746-1010C>A - IntronicSNV - 26/36 1
15-86268631-C-G c.6746-1010C>G - IntronicSNV - 26/36 1
15-86268672-C-A c.6746-969C>A - IntronicSNV - 26/36 1
15-86268672-C-T c.6746-969C>T - IntronicSNV - 26/36 1
15-86269655-C-A c.6760C>A p.Leu2254Ile Missense 27/37 - 1
15-86269660-C-G c.6765C>G p.Leu2255Leu Synonymous 27/37 - 1
15-86269670-T-G c.6775T>G p.Leu2259Val Missense 27/37 - 1
15-86270306-T-G c.6832T>G p.Ser2278Ala Missense 28/37 - 1
15-86270339-AG-GC c.6865_6866delinsGC p.Arg2289Ala Missense 28/37 - 1
15-86270361-A-G c.6887A>G p.Lys2296Arg Missense 28/37 - 1
15-86270369-TT-GC c.6895_6896delinsGC p.Phe2299Ala Missense 28/37 - 1
15-86270375-ATC-GAG c.6901_6903delinsGAG p.Ile2301Glu Missense 28/37 - 1
15-86270397-C-T c.6923C>T p.Pro2308Leu Missense 28/37 - 1
15-86270398-A-G c.6924A>G p.Pro2308Pro Synonymous 28/37 - 1
15-86270424-C-T c.6950C>T p.Ser2317Phe Missense 28/37 - 1
15-86270430-A-C c.6956A>C p.Glu2319Ala Missense 28/37 - 1
15-86271322-G-C c.7087+628G>C - IntronicSNV - 29/36 1
15-86273831-C-G c.7175C>G p.Pro2392Arg Missense 30/37 - 1
15-86277520-A-C c.7283-703A>C - IntronicSNV - 30/36 1
15-86277520-A-G c.7283-703A>G - IntronicSNV - 30/36 1
15-86278309-G-A c.7369G>A p.Gly2457Ser Missense 31/37 - 4
15-86278323-G-A c.7383G>A p.Leu2461Leu Synonymous 31/37 - 1
15-86278395-A-C c.7441+14A>C - IntronicSNV - 31/36 2
15-86278395-A-G c.7441+14A>G - IntronicSNV - 31/36 2
15-86278395-A-T c.7441+14A>T - IntronicSNV - 31/36 2
15-86278836-C-T c.7487C>T p.Thr2496Met Missense 32/37 - 1
15-86279361-G-A c.7553G>A p.Ser2518Asn Missense 33/37 - 1
15-86280290-T-C c.7557+925T>C - IntronicSNV - 33/36 1
15-86283477-C-G c.7582C>G p.Leu2528Val Missense 34/37 - 1
15-86284342-C-T c.7674C>T p.Leu2558Leu Synonymous 35/37 - 1
15-86284700-C-T c.8032C>T p.Arg2678Trp Missense 35/37 - 1
15-86284704-A-T c.8036A>T p.Gln2679Leu Missense 35/37 - 1
15-86284712-C-T c.8044C>T p.Arg2682Trp Missense 35/37 - 1
15-86285227-G-C c.8058+501G>C - IntronicSNV - 35/36 1
15-86285740-C-T c.8059-983C>T - IntronicSNV - 35/36 2
15-86286787-C-T c.8123C>T p.Pro2708Leu Missense 36/37 - 1
15-86287028-G-A c.8364G>A p.Lys2788Lys Synonymous 36/37 - 1
15-86287028-G-C c.8364G>C p.Lys2788Asn Missense 36/37 - 1
15-86287031-C-A c.8367C>A p.Asn2789Lys Missense 36/37 - 1
15-86287031-C-G c.8367C>G p.Asn2789Lys Missense 36/37 - 1
15-86287031-C-T c.8367C>T p.Asn2789Asn Synonymous 36/37 - 1
15-86287035-A-C c.8371A>C p.Thr2791Pro Missense 36/37 - 2
15-86287867-G-A c.8401G>A p.Ala2801Thr Missense 37/37 - 3
15-86287867-G-T c.8401G>T p.Ala2801Ser Missense 37/37 - 3
15-86287910-C-A c.*2C>A - 3-UTRSNV 37/37 - 2
15-86287910-C-T c.*2C>T - 3-UTRSNV 37/37 - 2
15-86288267-A-C c.*359A>C - 3-UTRSNV 37/37 - 2
15-86288387-C-T c.*479C>T - 3-UTRSNV 37/37 - 1
15-86288518-G-A c.*610G>A - 3-UTRSNV 37/37 - 1
15-86288518-G-C c.*610G>C - 3-UTRSNV 37/37 - 1
15-86288596-T-G c.*688T>G - 3-UTRSNV 37/37 - 1
15-86288673-C-T c.*765C>T - 3-UTRSNV 37/37 - 1
15-86288733-C-G c.*825C>G - 3-UTRSNV 37/37 - 1
15-86288733-C-T c.*825C>T - 3-UTRSNV 37/37 - 1
15-86289363-G-A c.*1455G>A - 3-UTRSNV 37/37 - 2
15-86290212-G-A c.*2304G>A - 3-UTRSNV 37/37 - 1
15-86290212-G-C c.*2304G>C - 3-UTRSNV 37/37 - 1
15-86290212-G-T c.*2304G>T - 3-UTRSNV 37/37 - 1
15-86291257-G-A c.*3349G>A - 3-UTRSNV 37/37 - 2
15-86291269-C-T c.*3361C>T - 3-UTRSNV 37/37 - 2
15-86291455-T-A c.*3547T>A - 3-UTRSNV 37/37 - 1
15-86291455-T-C c.*3547T>C - 3-UTRSNV 37/37 - 1
15-86291562-G-A c.*3654G>A - 3-UTRSNV 37/37 - 1
15-86291562-G-C c.*3654G>C - 3-UTRSNV 37/37 - 1
15-86291562-G-T c.*3654G>T - 3-UTRSNV 37/37 - 1
15-86292471-T-A c.*4563T>A - 3-UTRSNV 37/37 - 1