PSEN1 presenilin 1

Canonical transcript: NM_000021

672 unique variant annotations were identified in 1100 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-73603504-G-A c.-136+213G>A - intron_variant - 1/11 1
14-73603504-G-C c.-136+213G>C - intron_variant - 1/11 1
14-73605495-A-G c.-136+2204A>G - intron_variant - 1/11 1
14-73605996-T-A c.-136+2705T>A - intron_variant - 1/11 1
14-73610354-G-C c.-135-4239G>C - IntronicSNV - 1/11 1
14-73614711-T-C c.-17T>C - 5-UTRSNV 3/12 - 1
14-73614711-T-G c.-17T>G - 5-UTRSNV 3/12 - 1
14-73614716-A-G c.-12A>G - 5-UTRSNV 3/12 - 1
14-73614755-TAC-AAG c.28_30delinsAAG p.Tyr10Lys Missense 3/12 - 1
14-73614755-TA-GC c.28_29delinsGC p.Tyr10Ala Missense 3/12 - 1
14-73614756-A-T c.29A>T p.Tyr10Phe Missense 3/12 - 4
14-73614758-TT-CG c.31_32delinsCG p.Phe11Arg Missense 3/12 - 1
14-73614763-G-C c.36G>C p.Gln12His Missense 3/12 - 1
14-73614763-G-T c.36G>T p.Gln12His Missense 3/12 - 1
14-73614767-GCA-TGT c.40_42delinsTGT p.Ala14Cys Missense 3/12 - 1
14-73614776-T-C c.49T>C p.Ser17Pro Missense 3/12 - 1
14-73614776-T-G c.49T>G p.Ser17Ala Missense 3/12 - 2
14-73614798-A-G c.71A>G p.Asn24Ser Missense 3/12 - 1
14-73614809-AG-GC c.82_83delinsGC p.Ser28Ala Missense 3/12 - 1
14-73614810-GC-AG c.83_84delinsAG p.Ser28Lys Missense 3/12 - 1
14-73626743-G-A c.88-10762G>A - IntronicSNV - 3/11 1
14-73631092-A-G c.88-6413A>G - IntronicSNV - 3/11 1
14-73633497-A-C c.88-4008A>C - IntronicSNV - 3/11 1
14-73633497-A-G c.88-4008A>G - IntronicSNV - 3/11 1
14-73637194-A-G c.88-311A>G - IntronicSNV - 3/11 1
14-73637508-GA-TG c.91_92delinsTG p.Asp31Cys Missense 4/12 - 1
14-73637514-AG-GC c.97_98delinsGC p.Arg33Ala Missense 4/12 - 1
14-73637520-C-T c.103C>T p.Arg35Trp Missense 4/12 - 1
14-73637521-G-A c.104G>A p.Arg35Gln Missense 4/12 - 6
14-73637535-G-A c.118G>A p.Asp40Asn Missense 4/12 - 1
14-73637542-G-C c.125G>C p.Arg42Pro Missense 4/12 - 1
14-73637554-A-G c.137A>G p.His46Arg Missense 4/12 - 3
14-73637556-C-G c.139C>G p.Pro47Ala Missense 4/12 - 1
14-73637568-T-G c.151T>G p.Ser51Ala Missense 4/12 - 5
14-73637570-T-A c.153T>A p.Ser51Ser Synonymous 4/12 - 1
14-73637570-T-C c.153T>C p.Ser51Ser Synonymous 4/12 - 1
14-73637570-T-G c.153T>G p.Ser51Ser Synonymous 4/12 - 1
14-73637583-CAG-TGT c.166_168delinsTGT p.Gln56Cys Missense 4/12 - 1
14-73637605-T-G c.188T>G p.Val63Gly Missense 4/12 - 1
14-73637609-G-C c.192G>C p.Glu64Asp Missense 4/12 - 2
14-73637609-G-T c.192G>T p.Glu64Asp Missense 4/12 - 2
14-73637610-CAA-TGT c.193_195delinsTGT p.Gln65Cys Missense 4/12 - 1
14-73637624-A-T c.207A>T p.Glu69Asp Missense 4/12 - 1
14-73637628-GAG-TGT c.211_213delinsTGT p.Glu71Cys Missense 4/12 - 1
14-73637635-T-C c.218T>C p.Leu73Pro Missense 4/12 - 1
14-73637637-ACA-GAC c.220_222delinsGAC p.Thr74Asp Missense 4/12 - 1
14-73637637-A-G c.220A>G p.Thr74Ala Missense 4/12 - 1
14-73637641-TG-GT c.224_225delinsGT p.Leu75Cys Missense 4/12 - 1
14-73637647-A-G c.230A>G p.Tyr77Cys Missense 4/12 - 2
14-73637649-G-T c.232G>T p.Gly78Cys Missense 4/12 - 3
14-73637651-C-A c.234C>A p.Gly78Gly Synonymous 4/12 - 1
14-73637651-C-G c.234C>G p.Gly78Gly Synonymous 4/12 - 1
14-73637651-C-T c.234C>T p.Gly78Gly Synonymous 4/12 - 1
14-73637652-GC-TG c.235_236delinsTG p.Ala79Cys Missense 4/12 - 1
14-73637653-C-G c.236C>G p.Ala79Gly Missense 4/12 - 1
14-73637653-C-T c.236C>T p.Ala79Val Missense 4/12 - 53
14-73637655-AAG-TGT c.238_240delinsTGT p.Lys80Cys Missense 4/12 - 2
14-73637658-CA-TG c.241_242inv p.His81Cys Missense 4/12 - 1
14-73637661-G-C c.244G>C p.Val82Leu Missense 4/12 - 3
14-73637661-G-T c.244G>T p.Val82Leu Missense 4/12 - 3
14-73637661-GTG-TGT c.244_246delinsTGT p.Val82Cys Missense 4/12 - 2
14-73637664-AT-TG c.247_248delinsTG p.Ile83Cys Missense 4/12 - 1
14-73637665-T-C c.248T>C p.Ile83Thr Missense 4/12 - 1
14-73637667-A-C c.250A>C p.Met84Leu Missense 4/12 - 1
14-73637667-A-G c.250A>G p.Met84Val Missense 4/12 - 2
14-73637667-A-T c.250A>T p.Met84Leu Missense 4/12 - 1
14-73637667-ATG-TGT c.250_252delinsTGT p.Met84Cys Missense 4/12 - 2
14-73637668-T-C c.251T>C p.Met84Thr Missense 4/12 - 1
14-73637670-CT-TG c.253_254delinsTG p.Leu85Cys Missense 4/12 - 2
14-73637671-T-C c.254T>C p.Leu85Pro Missense 4/12 - 13
14-73637679-CC-TG c.262_263delinsTG p.Pro88Cys Missense 4/12 - 1
14-73637679-C-T c.262C>T p.Pro88Ser Missense 4/12 - 1
14-73637680-C-A c.263C>A p.Pro88His Missense 4/12 - 1
14-73637680-C-T c.263C>T p.Pro88Leu Missense 4/12 - 1
14-73637682-G-C c.265G>C p.Val89Leu Missense 4/12 - 9
14-73637682-GTG-TGT c.265_267delinsTGT p.Val89Cys Missense 4/12 - 1
14-73637685-AC-TG c.268_269delinsTG p.Thr90Cys Missense 4/12 - 1
14-73637691-T-A c.274T>A p.Cys92Ser Missense 4/12 - 10
14-73637692-G-C c.275G>C p.Cys92Ser Missense 4/12 - 10
14-73637695-T-C c.278T>C p.Met93Thr Missense 4/12 - 1
14-73637697-G-A c.280G>A p.Val94Met Missense 4/12 - 2
14-73637697-GTG-TGT c.280_282delinsTGT p.Val94Cys Missense 4/12 - 1
14-73637703-G-T c.286G>T p.Val96Phe Missense 4/12 - 5
14-73637703-GT-TG c.286_287delinsTG p.Val96Cys Missense 4/12 - 1
14-73637706-G-C c.289G>C p.Val97Leu Missense 4/12 - 7
14-73637706-G-T c.289G>T p.Val97Leu Missense 4/12 - 7
14-73637706-GTG-TTT c.289_291delinsTTT p.Val97Phe Missense 4/12 - 1
14-73637715-A-T c.298A>T p.Ile100Phe Missense 4/12 - 1
14-73637715-AT-TG c.298_299delinsTG p.Ile100Cys Missense 4/12 - 3
14-73637718-AAG-TGT c.301_303delinsTGT p.Lys101Cys Missense 4/12 - 3
14-73637722-CA-GT c.305_306delinsGT p.Ser102Cys Missense 4/12 - 2
14-73637724-GT-TG c.307_308delinsTG p.Val103Cys Missense 4/12 - 2
14-73637725-T-G c.308T>G p.Val103Gly Missense 4/12 - 1
14-73637727-A-T c.310A>T p.Ser104Cys Missense 4/12 - 1
14-73637730-T-A c.313T>A p.Phe105Ile Missense 4/12 - 5
14-73637730-T-C c.313T>C p.Phe105Leu Missense 4/12 - 6
14-73637730-T-G c.313T>G p.Phe105Val Missense 4/12 - 2
14-73637732-T-A c.315T>A p.Phe105Leu Missense 4/12 - 6
14-73637732-T-G c.315T>G p.Phe105Leu Missense 4/12 - 6
14-73637731-T-C c.314T>C p.Phe105Ser Missense 4/12 - 1
14-73637731-T-G c.314T>G p.Phe105Cys Missense 4/12 - 6
14-73637731-TTTT-T c.314_316del p.Phe105del InFrameDeletion 4/12 - 1
14-73637733-TTAT-T c.316_318del p.Tyr106del InFrameDeletion 4/12 - 1
14-73637734-A-G c.317A>G p.Tyr106Cys Missense 4/12 - 2
14-73637740-G-A c.323G>A p.Arg108Gln Missense 4/12 - 1
14-73637742-A-T c.325A>T p.Lys109* Nonsense 4/12 - 1
14-73637748-G-T c.331G>T p.Gly111Trp Missense 4/12 - 1
14-73637749-G-T c.332G>T p.Gly111Val Missense 4/12 - 3
14-73637751-CAG-TGT c.334_336delinsTGT p.Gln112Cys Missense 4/12 - 3
14-73637755-T-A c.338T>A p.Leu113Gln Missense 4/12 - 3
14-73637755-T-C c.338T>C p.Leu113Pro Missense 4/12 - 15
14-73638629-G-C c.338+874G>C - IntronicSNV - 4/11 1
14-73640275-AT-TG c.340_341delinsTG p.Ile114Cys Missense 5/12 - 1
14-73640278-T-C c.343T>C p.Tyr115His Missense 5/12 - 15
14-73640279-A-G c.344A>G p.Tyr115Cys Missense 5/12 - 15
14-73640281-AC-CT c.346_347delinsCT p.Thr116Leu Missense 5/12 - 1
14-73640282-C-A c.347C>A p.Thr116Asn Missense 5/12 - 10
14-73640282-C-T c.347C>T p.Thr116Ile Missense 5/12 - 10
14-73640284-C-G c.349C>G p.Pro117Ala Missense 5/12 - 5
14-73640284-C-T c.349C>T p.Pro117Ser Missense 5/12 - 5
14-73640285-C-A c.350C>A p.Pro117Gln Missense 5/12 - 1
14-73640285-C-G c.350C>G p.Pro117Arg Missense 5/12 - 11
14-73640285-C-T c.350C>T p.Pro117Leu Missense 5/12 - 28
14-73640291-C-T c.356C>T p.Thr119Ile Missense 5/12 - 4
14-73640293-G-A c.358G>A p.Glu120Lys Missense 5/12 - 10
14-73640293-GAA-TGT c.358_360delinsTGT p.Glu120Cys Missense 5/12 - 1
14-73640294-A-G c.359A>G p.Glu120Gly Missense 5/12 - 5
14-73640295-A-C c.360A>C p.Glu120Asp Missense 5/12 - 6
14-73640296-GA-TG c.361_362delinsTG p.Asp121Cys Missense 5/12 - 1
14-73640299-A-C c.364A>C p.Thr122Pro Missense 5/12 - 1
14-73640302-G-A c.367G>A p.Glu123Lys Missense 5/12 - 4
14-73640302-GAG-TGT c.367_369delinsTGT p.Glu123Cys Missense 5/12 - 1
14-73640314-CAG-TGT c.379_381delinsTGT p.Gln127Cys Missense 5/12 - 1
14-73640314-CCAGA-C c.379_382del p.Gln127Glufs*7 Frameshift 5/12 - 1
14-73640320-GC-TG c.385_386delinsTG p.Ala129Cys Missense 5/12 - 1
14-73640324-T-C c.389T>C p.Leu130Pro Missense 5/12 - 1
14-73640326-CA-TG c.391_392inv p.His131Cys Missense 5/12 - 1
14-73640329-TC-AA c.394_395delinsAA p.Ser132Lys Missense 5/12 - 1
14-73640329-TCA-GAC c.394_396delinsGAC p.Ser132Asp Missense 5/12 - 1
14-73640329-T-G c.394T>G p.Ser132Ala Missense 5/12 - 4
14-73640330-CA-GT c.395_396delinsGT p.Ser132Cys Missense 5/12 - 2
14-73640336-T-C c.401T>C p.Leu134Pro Missense 5/12 - 1
14-73640336-T-G c.401T>G p.Leu134Arg Missense 5/12 - 1
14-73640338-AA-TG c.403_404delinsTG p.Asn135Cys Missense 5/12 - 1
14-73640338-A-G c.403A>G p.Asn135Asp Missense 5/12 - 7
14-73640338-A-T c.403A>T p.Asn135Tyr Missense 5/12 - 3
14-73640339-A-G c.404A>G p.Asn135Ser Missense 5/12 - 13
14-73640339-A-T c.404A>T p.Asn135Ile Missense 5/12 - 2
14-73640342-C-G c.407C>G p.Ala136Gly Missense 5/12 - 5
14-73640344-G-A c.409G>A p.Ala137Thr Missense 5/12 - 1
14-73640345-C-G c.410C>G p.Ala137Gly Missense 5/12 - 1
14-73640350-A-C c.415A>C p.Met139Leu Missense 5/12 - 2
14-73640350-A-G c.415A>G p.Met139Val Missense 5/12 - 32
14-73640350-A-T c.415A>T p.Met139Leu Missense 5/12 - 2
14-73640350-ATG-TGT c.415_417delinsTGT p.Met139Cys Missense 5/12 - 1
14-73640351-T-A c.416T>A p.Met139Lys Missense 5/12 - 3
14-73640351-T-C c.416T>C p.Met139Thr Missense 5/12 - 11
14-73640352-G-A c.417G>A p.Met139Ile Missense 5/12 - 11
14-73640352-G-C c.417G>C p.Met139Ile Missense 5/12 - 11
14-73640352-G-T c.417G>T p.Met139Ile Missense 5/12 - 11
14-73640353-A-G c.418A>G p.Ile140Val Missense 5/12 - 1
14-73640356-A-T c.421A>T p.Ser141Cys Missense 5/12 - 1
14-73640359-G-T c.424G>T p.Val142Phe Missense 5/12 - 1
14-73640362-A-G c.427A>G p.Ile143Val Missense 5/12 - 6
14-73640362-A-T c.427A>T p.Ile143Phe Missense 5/12 - 6
14-73640363-T-A c.428T>A p.Ile143Asn Missense 5/12 - 2
14-73640363-T-C c.428T>C p.Ile143Thr Missense 5/12 - 35
14-73640364-T-G c.429T>G p.Ile143Met Missense 5/12 - 4
14-73640371-A-C c.436A>C p.Met146Leu Missense 5/12 - 553
14-73640371-A-G c.436A>G p.Met146Val Missense 5/12 - 588
14-73640373-G-A c.438G>A p.Met146Ile Missense 5/12 - 25
14-73640375-C-T c.440C>T p.Thr147Ile Missense 5/12 - 6
14-73640377-A-G c.442A>G p.Ile148Val Missense 5/12 - 1
14-73640377-ATC-TGG c.442_444delinsTGG p.Ile148Trp Missense 5/12 - 1
14-73640383-C-G c.448C>G p.Leu150Val Missense 5/12 - 1
14-73640384-T-C c.449T>C p.Leu150Pro Missense 5/12 - 4
14-73640384-T-G c.449T>G p.Leu150Arg Missense 5/12 - 1
14-73640392-C-G c.457C>G p.Leu153Val Missense 5/12 - 9
14-73640395-T-A c.460T>A p.Tyr154Asn Missense 5/12 - 3
14-73640396-A-G c.461A>G p.Tyr154Cys Missense 5/12 - 1
14-73640406-G-C c.471G>C p.Arg157Ser Missense 5/12 - 1
14-73640406-G-T c.471G>T p.Arg157Ser Missense 5/12 - 1
14-73640409-C-T c.474C>T p.Cys158Cys Synonymous 5/12 - 1
14-73640411-A-G c.476A>G p.Tyr159Cys Missense 5/12 - 2
14-73640411-A-T c.476A>T p.Tyr159Phe Missense 5/12 - 1
14-73640413-AAG-TGT c.478_480delinsTGT p.Lys160Cys Missense 5/12 - 1
14-73640435-C-A c.480+20C>A - IntronicSNV - 5/11 1
14-73640435-C-T c.480+20C>T - IntronicSNV - 5/11 1
14-73640916-C-T c.480+501C>T - IntronicSNV - 5/11 1
14-73653561-GT-TG c.481_482delinsTG p.Val161Cys Missense 6/12 - 1
14-73653565-T-C c.485T>C p.Ile162Thr Missense 6/12 - 1
14-73653567-C-T c.487C>T p.His163Tyr Missense 6/12 - 16
14-73653568-A-C c.488A>C p.His163Pro Missense 6/12 - 7
14-73653568-A-G c.488A>G p.His163Arg Missense 6/12 - 43
14-73653573-T-G c.493T>G p.Trp165Gly Missense 6/12 - 3
14-73653575-G-C c.495G>C p.Trp165Cys Missense 6/12 - 3
14-73653575-G-T c.495G>T p.Trp165Cys Missense 6/12 - 3
14-73653576-C-G c.496C>G p.Leu166Val Missense 6/12 - 3
14-73653576-CT-AG c.496_497inv p.Leu166Ser Missense 6/12 - 1
14-73653576-CT-GC c.496_497delinsGC p.Leu166Ala Missense 6/12 - 2
14-73653576-CT-TG c.496_497delinsTG p.Leu166Cys Missense 6/12 - 3
14-73653576-CTT-GAG c.496_498delinsGAG p.Leu166Glu Missense 6/12 - 1
14-73653576-CTT-TGG c.496_498delinsTGG p.Leu166Trp Missense 6/12 - 2
14-73653576-GCTT-G c.496_498del p.Leu166del InFrameDeletion 6/12 - 3
14-73653577-T-A c.497T>A p.Leu166His Missense 6/12 - 3
14-73653577-T-C c.497T>C p.Leu166Pro Missense 6/12 - 173
14-73653577-T-G c.497T>G p.Leu166Arg Missense 6/12 - 7
14-73653579-AT-TG c.499_500delinsTG p.Ile167Cys Missense 6/12 - 1
14-73653581-TTAT-T c.501_503del p.Ile168del InFrameDeletion 6/12 - 6
14-73653582-TATA-T c.502_504del p.Ile168del InFrameDeletion 6/12 - 2
14-73653583-T-C c.503T>C p.Ile168Thr Missense 6/12 - 1
14-73653585-T-C c.505T>C p.Ser169Pro Missense 6/12 - 6
14-73653586-C-T c.506C>T p.Ser169Leu Missense 6/12 - 7
14-73653587-CATC-C c.507_509del p.Ser170del InFrameDeletion 6/12 - 9
14-73653588-T-C c.508T>C p.Ser170Pro Missense 6/12 - 1
14-73653589-C-G c.509C>G p.Ser170Cys Missense 6/12 - 1
14-73653589-C-T c.509C>T p.Ser170Phe Missense 6/12 - 24
14-73653592-T-C c.512T>C p.Leu171Pro Missense 6/12 - 4
14-73653595-T-G c.515T>G p.Leu172Trp Missense 6/12 - 1
14-73653595-TG-GT c.515_516delinsGT p.Leu172Cys Missense 6/12 - 1
14-73653598-T-G c.518T>G p.Leu173Trp Missense 6/12 - 4
14-73653599-G-C c.519G>C p.Leu173Phe Missense 6/12 - 8
14-73653599-G-T c.519G>T p.Leu173Phe Missense 6/12 - 8
14-73653600-C-A c.520C>A p.Leu174Met Missense 6/12 - 3
14-73653601-T-G c.521T>G p.Leu174Arg Missense 6/12 - 5
14-73653606-T-G c.526T>G p.Phe176Val Missense 6/12 - 1
14-73653607-T-G c.527T>G p.Phe176Cys Missense 6/12 - 1
14-73653609-T-C c.529T>C p.Phe177Leu Missense 6/12 - 6
14-73653609-T-G c.529T>G p.Phe177Val Missense 6/12 - 2
14-73653611-T-A c.531T>A p.Phe177Leu Missense 6/12 - 6
14-73653611-T-G c.531T>G p.Phe177Leu Missense 6/12 - 6
14-73653610-T-C c.530T>C p.Phe177Ser Missense 6/12 - 4
14-73653610-T-G c.530T>G p.Phe177Cys Missense 6/12 - 1
14-73653612-T-C c.532T>C p.Ser178Pro Missense 6/12 - 3
14-73653616-T-G c.536T>G p.Phe179Cys Missense 6/12 - 1
14-73653618-AT-TG c.538_539delinsTG p.Ile180Cys Missense 6/12 - 1
14-73653619-T-A c.539T>A p.Ile180Asn Missense 6/12 - 1
14-73653622-A-G c.542A>G p.Tyr181Cys Missense 6/12 - 1
14-73653624-T-G c.544T>G p.Leu182Val Missense 6/12 - 1
14-73653628-G-T c.548G>T p.Gly183Val Missense 6/12 - 17
14-73659353-GAA-TGT c.550_552delinsTGT p.Glu184Cys Missense 7/12 - 1
14-73659354-A-G c.551A>G p.Glu184Gly Missense 7/12 - 4
14-73659355-A-C c.552A>C p.Glu184Asp Missense 7/12 - 16
14-73659355-A-T c.552A>T p.Glu184Asp Missense 7/12 - 16
14-73659362-AAA-TGT c.559_561delinsTGT p.Lys187Cys Missense 7/12 - 1
14-73659365-AC-TG c.562_563delinsTG p.Thr188Cys Missense 7/12 - 1
14-73659366-CC-AG c.563_564delinsAG p.Thr188Lys Missense 7/12 - 1
14-73659369-A-G c.566A>G p.Tyr189Cys Missense 7/12 - 2
14-73659371-AA-CT c.568_569delinsCT p.Asn190Leu Missense 7/12 - 1
14-73659371-AA-TG c.568_569delinsTG p.Asn190Cys Missense 7/12 - 1
14-73659372-A-G c.569A>G p.Asn190Ser Missense 7/12 - 1
14-73659374-GT-TG c.571_572delinsTG p.Val191Cys Missense 7/12 - 1
14-73659375-T-C c.572T>C p.Val191Ala Missense 7/12 - 3
14-73659377-GC-TG c.574_575delinsTG p.Ala192Cys Missense 7/12 - 2
14-73659380-GTG-TGT c.577_579delinsTGT p.Val193Cys Missense 7/12 - 1
14-73659383-G-A c.580G>A p.Asp194Asn Missense 7/12 - 1
14-73659383-GAC-CAA c.580_582delinsCAA p.Asp194Gln Missense 7/12 - 1
14-73659383-GA-CT c.580_581delinsCT p.Asp194Leu Missense 7/12 - 1
14-73659383-GA-TG c.580_581delinsTG p.Asp194Cys Missense 7/12 - 1
14-73659385-C-A c.582C>A p.Asp194Glu Missense 7/12 - 1
14-73659385-C-G c.582C>G p.Asp194Glu Missense 7/12 - 1
14-73659387-A-G c.584A>G p.Tyr195Cys Missense 7/12 - 1
14-73659387-A-T c.584A>T p.Tyr195Phe Missense 7/12 - 1
14-73659389-AT-TG c.586_587delinsTG p.Ile196Cys Missense 7/12 - 1
14-73659392-AC-GT c.589_590inv p.Thr197Val Missense 7/12 - 1
14-73659407-A-T c.604A>T p.Ile202Phe Missense 7/12 - 6
14-73659412-G-C c.609G>C p.Trp203Cys Missense 7/12 - 2
14-73659412-G-T c.609G>T p.Trp203Cys Missense 7/12 - 2
14-73659413-AA-TG c.610_611delinsTG p.Asn204Cys Missense 7/12 - 1
14-73659419-G-A c.616G>A p.Gly206Ser Missense 7/12 - 7
14-73659420-G-A c.617G>A p.Gly206Asp Missense 7/12 - 6
14-73659420-G-C c.617G>C p.Gly206Ala Missense 7/12 - 43
14-73659420-G-T c.617G>T p.Gly206Val Missense 7/12 - 10
14-73659422-GTG-TGT c.619_621delinsTGT p.Val207Cys Missense 7/12 - 1
14-73659425-GTG-TGT c.622_624delinsTGT p.Val208Cys Missense 7/12 - 1
14-73659428-G-A c.625G>A p.Gly209Arg Missense 7/12 - 8
14-73659428-G-C c.625G>C p.Gly209Arg Missense 7/12 - 8
14-73659428-GGA-TGT c.625_627delinsTGT p.Gly209Cys Missense 7/12 - 1
14-73659429-G-A c.626G>A p.Gly209Glu Missense 7/12 - 8
14-73659429-G-C c.626G>C p.Gly209Ala Missense 7/12 - 4
14-73659429-G-T c.626G>T p.Gly209Val Missense 7/12 - 18
14-73659431-ATG-TGT c.628_630delinsTGT p.Met210Cys Missense 7/12 - 1
14-73659432-T-G c.629T>G p.Met210Arg Missense 7/12 - 1
14-73659434-AT-TG c.631_632delinsTG p.Ile211Cys Missense 7/12 - 1
14-73659436-T-G c.633T>G p.Ile211Met Missense 7/12 - 2
14-73659438-C-A c.635C>A p.Ser212Tyr Missense 7/12 - 17
14-73659440-A-C c.637A>C p.Ile213Leu Missense 7/12 - 3
14-73659440-A-T c.637A>T p.Ile213Phe Missense 7/12 - 2
14-73659440-AT-CC c.637_638delinsCC p.Ile213Pro Missense 7/12 - 1
14-73659440-AT-TG c.637_638delinsTG p.Ile213Cys Missense 7/12 - 1
14-73659441-T-C c.638T>C p.Ile213Thr Missense 7/12 - 22
14-73659443-C-A c.640C>A p.His214Asn Missense 7/12 - 1
14-73659443-CA-TG c.640_641inv p.His214Cys Missense 7/12 - 1
14-73659443-C-G c.640C>G p.His214Asp Missense 7/12 - 4
14-73659443-C-T c.640C>T p.His214Tyr Missense 7/12 - 7
14-73659444-A-G c.641A>G p.His214Arg Missense 7/12 - 2
14-73659448-G-C c.645G>C p.Trp215Cys Missense 7/12 - 1
14-73659448-G-T c.645G>T p.Trp215Cys Missense 7/12 - 1
14-73659449-AAA-TGT c.646_648delinsTGT p.Lys216Cys Missense 7/12 - 1
14-73659452-G-C c.649G>C p.Gly217Arg Missense 7/12 - 6
14-73659452-G-T c.649G>T p.Gly217Cys Missense 7/12 - 1
14-73659453-G-A c.650G>A p.Gly217Asp Missense 7/12 - 7
14-73659455-CCA-TGT c.652_654delinsTGT p.Pro218Cys Missense 7/12 - 1
14-73659456-C-T c.653C>T p.Pro218Leu Missense 7/12 - 3
14-73659458-C-T c.655C>T p.Leu219Phe Missense 7/12 - 1
14-73659458-CT-TG c.655_656delinsTG p.Leu219Cys Missense 7/12 - 1
14-73659459-T-C c.656T>C p.Leu219Pro Missense 7/12 - 3
14-73659461-C-G c.658C>G p.Arg220Gly Missense 7/12 - 2
14-73659461-CGA-TGT c.658_660delinsTGT p.Arg220Cys Missense 7/12 - 1
14-73659461-C-T c.658C>T p.Arg220* Nonsense 7/12 - 1
14-73659462-G-C c.659G>C p.Arg220Pro Missense 7/12 - 1
14-73659464-CT-AC c.661_662delinsAC p.Leu221Thr Missense 7/12 - 1
14-73659468-A-C c.665A>C p.Gln222Pro Missense 7/12 - 1
14-73659468-A-G c.665A>G p.Gln222Arg Missense 7/12 - 1
14-73659469-G-C c.666G>C p.Gln222His Missense 7/12 - 6
14-73659471-A-G c.668A>G p.Gln223Arg Missense 7/12 - 4
14-73659474-C-T c.671C>T p.Ala224Val Missense 7/12 - 1
14-73659479-C-T c.676C>T p.Leu226Phe Missense 7/12 - 12
14-73659479-CT-TG c.676_677delinsTG p.Leu226Cys Missense 7/12 - 1
14-73659480-T-G c.677T>G p.Leu226Arg Missense 7/12 - 12
14-73659482-A-G c.679A>G p.Ile227Val Missense 7/12 - 1
14-73659488-A-T c.685A>T p.Ile229Phe Missense 7/12 - 6
14-73659491-AG-GC c.688_689delinsGC p.Ser230Ala Missense 7/12 - 2
14-73659491-A-T c.688A>T p.Ser230Cys Missense 7/12 - 1
14-73659492-G-A c.689G>A p.Ser230Asn Missense 7/12 - 3
14-73659492-G-T c.689G>T p.Ser230Ile Missense 7/12 - 2
14-73659491-A-C c.688A>C p.Ser230Arg Missense 7/12 - 2
14-73659493-T-A c.690T>A p.Ser230Arg Missense 7/12 - 2
14-73659493-T-G c.690T>G p.Ser230Arg Missense 7/12 - 2
14-73659494-G-A c.691G>A p.Ala231Thr Missense 7/12 - 4
14-73659494-G-C c.691G>C p.Ala231Pro Missense 7/12 - 1
14-73659495-C-T c.692C>T p.Ala231Val Missense 7/12 - 8
14-73659498-T-C c.695T>C p.Leu232Pro Missense 7/12 - 3
14-73659500-A-C c.697A>C p.Met233Leu Missense 7/12 - 13
14-73659500-A-G c.697A>G p.Met233Val Missense 7/12 - 12
14-73659500-ATG-TGT c.697_699delinsTGT p.Met233Cys Missense 7/12 - 1
14-73659501-T-C c.698T>C p.Met233Thr Missense 7/12 - 55
14-73659502-G-C c.699G>C p.Met233Ile Missense 7/12 - 4
14-73659506-C-G c.703C>G p.Leu235Val Missense 7/12 - 22
14-73659506-CT-AC c.703_704delinsAC p.Leu235Thr Missense 7/12 - 1
14-73659507-T-C c.704T>C p.Leu235Pro Missense 7/12 - 31
14-73659507-T-G c.704T>G p.Leu235Arg Missense 7/12 - 6
14-73659509-GTG-TGT c.706_708delinsTGT p.Val236Cys Missense 7/12 - 2
14-73659509-GT-TC c.706_707delinsTC p.Val236Ser Missense 7/12 - 1
14-73659510-T-A c.707T>A p.Val236Glu Missense 7/12 - 2
14-73659512-T-A c.709T>A p.Phe237Ile Missense 7/12 - 8
14-73659514-T-A c.711T>A p.Phe237Leu Missense 7/12 - 3
14-73659513-T-G c.710T>G p.Phe237Cys Missense 7/12 - 1
14-73659515-AT-TG c.712_713delinsTG p.Ile238Cys Missense 7/12 - 1
14-73659517-C-G c.714C>G p.Ile238Met Missense 7/12 - 10
14-73659518-AAG-TGT c.715_717delinsTGT p.Lys239Cys Missense 7/12 - 1
14-73659518-A-G c.715A>G p.Lys239Glu Missense 7/12 - 2
14-73659520-G-C c.717G>C p.Lys239Asn Missense 7/12 - 6
14-73659520-G-T c.717G>T p.Lys239Asn Missense 7/12 - 6
14-73659522-A-G c.719A>G p.Tyr240Cys Missense 7/12 - 2
14-73659524-CT-TG c.721_722delinsTG p.Leu241Cys Missense 7/12 - 1
14-73659525-T-G c.722T>G p.Leu241Arg Missense 7/12 - 1
14-73659528-C-A c.725C>A p.Pro242His Missense 7/12 - 1
14-73659528-CC-C c.725del p.Pro242Leufs*11 Frameshift 7/12 - 4
14-73659528-CT-AA c.725_726delinsAA p.Pro242Gln Missense 7/12 - 1
14-73659536-A-C c.733A>C p.Thr245Pro Missense 7/12 - 6
14-73659536-AC-TG c.733_734delinsTG p.Thr245Cys Missense 7/12 - 2
14-73659539-G-C c.736G>C p.Ala246Pro Missense 7/12 - 1
14-73659539-GC-CA c.736_737delinsCA p.Ala246Gln Missense 7/12 - 3
14-73659539-GCG-TGT c.736_738delinsTGT p.Ala246Cys Missense 7/12 - 3
14-73659540-C-A c.737C>A p.Ala246Glu Missense 7/12 - 169
14-73659540-C-G c.737C>G p.Ala246Gly Missense 7/12 - 1
14-73659544-G-C c.741G>C p.Trp247Cys Missense 7/12 - 2
14-73659544-G-T c.741G>T p.Trp247Cys Missense 7/12 - 2
14-73659546-T-C c.743T>C p.Leu248Pro Missense 7/12 - 2
14-73659546-T-G c.743T>G p.Leu248Arg Missense 7/12 - 3
14-73659548-A-C c.745A>C p.Ile249Leu Missense 7/12 - 1
14-73659551-T-G c.748T>G p.Leu250Val Missense 7/12 - 5
14-73659552-T-C c.749T>C p.Leu250Ser Missense 7/12 - 9
14-73659552-TG-GT c.749_750delinsGT p.Leu250Cys Missense 7/12 - 6
14-73659557-GTG-TGT c.754_756delinsTGT p.Val252Cys Missense 7/12 - 1
14-73659560-A-G c.757A>G p.Ile253Val Missense 7/12 - 1
14-73659564-CA-GT c.761_762delinsGT p.Ser254Cys Missense 7/12 - 1
14-73659566-GTA-TGT c.763_765delinsTGT p.Val255Cys Missense 7/12 - 1
14-73659568-A-C c.765A>C p.Val255Val Synonymous 7/12 - 1
14-73659568-A-G c.765A>G p.Val255Val Synonymous 7/12 - 1
14-73659568-A-T c.765A>T p.Val255Val Synonymous 7/12 - 1
14-73659569-T-A c.766T>A p.Tyr256Asn Missense 7/12 - 2
14-73659570-A-C c.767A>C p.Tyr256Ser Missense 7/12 - 11
14-73659572-G-A c.769G>A p.Asp257Asn Missense 7/12 - 2
14-73662629-C-T c.770-2110C>T - IntronicSNV - 7/11 3
14-73664739-A-C c.770A>C p.Asp257Ala Missense 8/12 - 71
14-73664741-T-C c.772T>C p.Leu258Leu Synonymous 8/12 - 1
14-73664742-TA-GT c.773_774delinsGT p.Leu258Cys Missense 8/12 - 1
14-73664744-GTG-TGT c.775_777delinsTGT p.Val259Cys Missense 8/12 - 1
14-73664747-GC-TG c.778_779delinsTG p.Ala260Cys Missense 8/12 - 3
14-73664748-C-G c.779C>G p.Ala260Gly Missense 8/12 - 2
14-73664748-C-T c.779C>T p.Ala260Val Missense 8/12 - 18
14-73664750-G-A c.781G>A p.Val261Ile Missense 8/12 - 6
14-73664750-G-C c.781G>C p.Val261Leu Missense 8/12 - 2
14-73664750-G-T c.781G>T p.Val261Phe Missense 8/12 - 10
14-73664750-GT-CG c.781_782delinsCG p.Val261Arg Missense 8/12 - 1
14-73664750-GT-TG c.781_782delinsTG p.Val261Cys Missense 8/12 - 2
14-73664753-T-G c.784T>G p.Leu262Val Missense 8/12 - 2
14-73664754-TG-GT c.785_786delinsGT p.Leu262Cys Missense 8/12 - 1
14-73664755-G-C c.786G>C p.Leu262Phe Missense 8/12 - 6
14-73664755-G-T c.786G>T p.Leu262Phe Missense 8/12 - 6
14-73664756-T-C c.787T>C p.Cys263Arg Missense 8/12 - 2
14-73664757-G-T c.788G>T p.Cys263Phe Missense 8/12 - 3
14-73664759-CC-GT c.790_791delinsGT p.Pro264Val Missense 8/12 - 1
14-73664759-CCG-TGT c.790_792delinsTGT p.Pro264Cys Missense 8/12 - 2
14-73664760-C-T c.791C>T p.Pro264Leu Missense 8/12 - 78
14-73664765-G-A c.796G>A p.Gly266Ser Missense 8/12 - 4
14-73664768-C-G c.799C>G p.Pro267Ala Missense 8/12 - 1
14-73664768-C-T c.799C>T p.Pro267Ser Missense 8/12 - 7
14-73664769-C-T c.800C>T p.Pro267Leu Missense 8/12 - 4
14-73664771-CT-TG c.802_803delinsTG p.Leu268Cys Missense 8/12 - 1
14-73664774-C-G c.805C>G p.Arg269Gly Missense 8/12 - 6
14-73664774-C-T c.805C>T p.Arg269Cys Missense 8/12 - 1
14-73664775-G-A c.806G>A p.Arg269His Missense 8/12 - 17
14-73664777-A-C c.808A>C p.Met270Leu Missense 8/12 - 1
14-73664777-A-T c.808A>T p.Met270Leu Missense 8/12 - 1
14-73664780-C-G c.811C>G p.Leu271Val Missense 8/12 - 13
14-73664784-T-C c.815T>C p.Val272Ala Missense 8/12 - 7
14-73664787-A-C c.818A>C p.Glu273Ala Missense 8/12 - 8
14-73664787-A-G c.818A>G p.Glu273Gly Missense 8/12 - 1
14-73664790-C-G c.821C>G p.Thr274Arg Missense 8/12 - 2
14-73664793-C-T c.824C>T p.Ala275Val Missense 8/12 - 1
14-73664802-G-A c.833G>A p.Arg278Lys Missense 8/12 - 2
14-73664802-G-C c.833G>C p.Arg278Thr Missense 8/12 - 6
14-73664802-G-T c.833G>T p.Arg278Ile Missense 8/12 - 27
14-73664803-A-C c.834A>C p.Arg278Ser Missense 8/12 - 2
14-73664803-A-T c.834A>T p.Arg278Ser Missense 8/12 - 2
14-73664806-T-A c.837T>A p.Asn279Lys Missense 8/12 - 1
14-73664806-T-G c.837T>G p.Asn279Lys Missense 8/12 - 1
14-73664807-G-A c.838G>A p.Glu280Lys Missense 8/12 - 3
14-73664807-G-C c.838G>C p.Glu280Gln Missense 8/12 - 1
14-73664808-A-C c.839A>C p.Glu280Ala Missense 8/12 - 159
14-73664808-A-G c.839A>G p.Glu280Gly Missense 8/12 - 18
14-73664813-C-G c.844C>G p.Leu282Val Missense 8/12 - 13
14-73664813-C-T c.844C>T p.Leu282Phe Missense 8/12 - 3
14-73664814-T-C c.845T>C p.Leu282Pro Missense 8/12 - 1
14-73664814-T-G c.845T>G p.Leu282Arg Missense 8/12 - 5
14-73664816-T-C c.847T>C p.Phe283Leu Missense 8/12 - 3
14-73664818-T-A c.849T>A p.Phe283Leu Missense 8/12 - 3
14-73664818-T-G c.849T>G p.Phe283Leu Missense 8/12 - 3
14-73664819-C-T c.850C>T p.Pro284Ser Missense 8/12 - 2
14-73664820-CA-AT c.851_852delinsAT p.Pro284His Missense 8/12 - 1
14-73664820-C-T c.851C>T p.Pro284Leu Missense 8/12 - 5
14-73664822-G-T c.853G>T p.Ala285Ser Missense 8/12 - 1
14-73664823-C-T c.854C>T p.Ala285Val Missense 8/12 - 11
14-73664825-C-A c.856C>A p.Leu286Ile Missense 8/12 - 1
14-73664825-C-G c.856C>G p.Leu286Val Missense 8/12 - 282
14-73664825-C-T c.856C>T p.Leu286Phe Missense 8/12 - 1
14-73664825-CT-AG c.856_857inv p.Leu286Ser Missense 8/12 - 1
14-73664825-CTC-GAG c.856_858inv p.Leu286Glu Missense 8/12 - 1
14-73664825-CTC-TGG c.856_858delinsTGG p.Leu286Trp Missense 8/12 - 1
14-73664826-T-C c.857T>C p.Leu286Pro Missense 8/12 - 10
14-73664826-TC-AA c.857_858delinsAA p.Leu286Gln Missense 8/12 - 1
14-73664826-T-G c.857T>G p.Leu286Arg Missense 8/12 - 2
14-73664831-T-A c.862T>A p.Tyr288Asn Missense 8/12 - 1
14-73664831-T-C c.862T>C p.Tyr288His Missense 8/12 - 2
14-73664832-A-T c.863A>T p.Tyr288Phe Missense 8/12 - 1
14-73664853-G-A c.868+16G>A - IntronicSNV - 8/11 12
14-73664853-G-T c.868+16G>T - IntronicSNV - 8/11 12
14-73672831-C-A c.869-263C>A - IntronicSNV - 8/11 2
14-73673092-A-G c.869-2A>G - IntronicSNV - 8/11 2
14-73673094-CA-GG c.869_870delinsGG p.Ser290Trp Missense 9/12 - 1
14-73673094-CA-GT c.869_870delinsGT p.Ser290Cys Missense 9/12 - 12
14-73673094-GCAACAATGGTGTGGTTGGTGAATATGGCAGAAGGAGACCCGGAAGCTCAAAGGAGAGTA-G c.869_927del p.Ser290Phefs*7 Unclassified 9/12 - 2
14-73673096-A-C c.871A>C p.Thr291Pro Missense 9/12 - 5
14-73673096-A-G c.871A>G p.Thr291Ala Missense 9/12 - 2
14-73673099-AT-GA c.874_875delinsGA p.Met292Glu Missense 9/12 - 2
14-73673099-ATG-GAC c.874_876delinsGAC p.Met292Asp Missense 9/12 - 11
14-73673103-TG-AC c.878_879delinsAC p.Val293Asp Missense 9/12 - 1
14-73673108-TTG-GAC c.883_885delinsGAC p.Leu295Asp Missense 9/12 - 1
14-73673112-TG-AC c.887_888delinsAC p.Val296Asp Missense 9/12 - 1
14-73673114-AA-GG c.889_890delinsGG p.Asn297Gly Missense 9/12 - 1
14-73673114-A-G c.889A>G p.Asn297Asp Missense 9/12 - 1
14-73673115-A-G c.890A>G p.Asn297Ser Missense 9/12 - 1
14-73673116-T-A c.891T>A p.Asn297Lys Missense 9/12 - 1
14-73673116-T-G c.891T>G p.Asn297Lys Missense 9/12 - 1
14-73673117-ATG-GAC c.892_894delinsGAC p.Met298Asp Missense 9/12 - 1
14-73673121-CA-AC c.896_897delinsAC p.Ala299Asp Missense 9/12 - 1
14-73673125-A-C c.900A>C p.Glu300Asp Missense 9/12 - 1
14-73673125-A-T c.900A>T p.Glu300Asp Missense 9/12 - 1
14-73673133-C-T c.908C>T p.Pro303Leu Missense 9/12 - 1
14-73673153-TC-GA c.928_929inv p.Ser310Asp Missense 9/12 - 1
14-73673153-T-G c.928T>G p.Ser310Ala Missense 9/12 - 1
14-73673154-C-CTT c.929_930insTT p.Lys311Serfs*39 Frameshift 9/12 - 1
14-73673157-A-G c.932A>G p.Lys311Arg Missense 9/12 - 2
14-73673162-TC-GA c.937_938inv p.Ser313Asp Missense 9/12 - 1
14-73673162-T-G c.937T>G p.Ser313Ala Missense 9/12 - 1
14-73673178-A-G c.953A>G p.Glu318Gly Missense 9/12 - 45
14-73673634-C-T c.955+454C>T - IntronicSNV - 9/11 1
14-73677963-T-C c.956-514T>C - IntronicSNV - 9/11 2
14-73677963-T-G c.956-514T>G - IntronicSNV - 9/11 2
14-73678491-T-G c.970T>G p.Ser324Ala Missense 10/12 - 1
14-73678501-C-CC c.980dup p.Val328Cysfs*5 Frameshift 10/12 - 1
14-73678519-A-G c.998A>G p.Asp333Gly Missense 10/12 - 7
14-73678530-AG-GC c.1009_1010delinsGC p.Ser337Ala Missense 10/12 - 1
14-73678536-GAA-TAT c.1015_1017delinsTAT p.Glu339Tyr Missense 10/12 - 1
14-73678537-A-C c.1016A>C p.Glu339Ala Missense 10/12 - 1
14-73678557-AG-GC c.1036_1037delinsGC p.Ser346Ala Missense 10/12 - 1
14-73678570-C-T c.1049C>T p.Pro350Leu Missense 10/12 - 1
14-73678572-CA-TG c.1051_1052inv p.His351Cys Missense 10/12 - 2
14-73678575-C-T c.1054C>T p.Arg352Cys Missense 10/12 - 3
14-73678576-G-A c.1055G>A p.Arg352His Missense 10/12 - 2
14-73678578-T-G c.1057T>G p.Ser353Ala Missense 10/12 - 1
14-73678581-A-G c.1060A>G p.Thr354Ala Missense 10/12 - 1
14-73678582-C-T c.1061C>T p.Thr354Ile Missense 10/12 - 6
14-73678584-C-T c.1063C>T p.Pro355Ser Missense 10/12 - 1
14-73678590-T-G c.1069T>G p.Ser357Ala Missense 10/12 - 1
14-73678594-G-A c.1073G>A p.Arg358Gln Missense 10/12 - 1
14-73678599-G-A c.1078G>A p.Ala360Thr Missense 10/12 - 1
14-73678606-A-C c.1085A>C p.Gln362Pro Missense 10/12 - 1
14-73678614-TC-GA c.1093_1094inv p.Ser365Asp Missense 10/12 - 1
14-73678614-T-G c.1093T>G p.Ser365Ala Missense 10/12 - 6
14-73678615-C-A c.1094C>A p.Ser365Tyr Missense 10/12 - 1
14-73678617-AG-GA c.1096_1097delinsGA p.Ser366Asp Missense 10/12 - 1
14-73678617-AG-GC c.1096_1097delinsGC p.Ser366Ala Missense 10/12 - 2
14-73678620-AG-GA c.1099_1100delinsGA p.Ser367Asp Missense 10/12 - 4
14-73678620-AG-GC c.1099_1100delinsGC p.Ser367Ala Missense 10/12 - 6
14-73678647-GAA-TGT c.1126_1128delinsTGT p.Glu376Cys Missense 10/12 - 1
14-73678650-A-T c.1129A>T p.Arg377Trp Missense 10/12 - 3
14-73682184-G-A c.1130-1650G>A - IntronicSNV - 10/11 1
14-73682184-G-T c.1130-1650G>T - IntronicSNV - 10/11 1
14-73683194-T-A c.1130-640T>A - IntronicSNV - 10/11 1
14-73683194-T-C c.1130-640T>C - IntronicSNV - 10/11 1
14-73683641-G-T c.1130-193G>T - IntronicSNV - 10/11 1
14-73683834-G-T c.1130G>T p.Arg377Met Missense 11/12 - 2
14-73683835-G-T c.1131G>T p.Arg377Ser Missense 11/12 - 1
14-73683836-GGA-TGT c.1132_1134delinsTGT p.Gly378Cys Missense 11/12 - 1
14-73683837-G-A c.1133G>A p.Gly378Glu Missense 11/12 - 7
14-73683837-G-C c.1133G>C p.Gly378Ala Missense 11/12 - 1
14-73683837-G-T c.1133G>T p.Gly378Val Missense 11/12 - 5
14-73683839-GTA-TGT c.1135_1137delinsTGT p.Val379Cys Missense 11/12 - 1
14-73683842-AAA-TGT c.1138_1140delinsTGT p.Lys380Cys Missense 11/12 - 1
14-73683845-C-G c.1141C>G p.Leu381Val Missense 11/12 - 10
14-73683845-C-T c.1141C>T p.Leu381Phe Missense 11/12 - 2
14-73683845-CT-GC c.1141_1142delinsGC p.Leu381Ala Missense 11/12 - 1
14-73683845-CT-TG c.1141_1142delinsTG p.Leu381Cys Missense 11/12 - 4
14-73683848-GGA-TGT c.1144_1146delinsTGT p.Gly382Cys Missense 11/12 - 2
14-73683849-G-C c.1145G>C p.Gly382Ala Missense 11/12 - 4
14-73683852-T-G c.1148T>G p.Leu383Trp Missense 11/12 - 3
14-73683852-TG-GT c.1148_1149delinsGT p.Leu383Cys Missense 11/12 - 8
14-73683853-G-C c.1149G>C p.Leu383Phe Missense 11/12 - 2
14-73683853-G-T c.1149G>T p.Leu383Phe Missense 11/12 - 2
14-73683854-GG-AT c.1150_1151delinsAT p.Gly384Ile Missense 11/12 - 1
14-73683854-GGA-TGG c.1150_1152delinsTGG p.Gly384Trp Missense 11/12 - 1
14-73683854-GGA-TGT c.1150_1152delinsTGT p.Gly384Cys Missense 11/12 - 2
14-73683854-GG-CC c.1150_1151inv p.Gly384Pro Missense 11/12 - 1
14-73683855-G-C c.1151G>C p.Gly384Ala Missense 11/12 - 72
14-73683857-G-A c.1153G>A p.Asp385Asn Missense 11/12 - 17
14-73683857-GA-AC c.1153_1154delinsAC p.Asp385Thr Missense 11/12 - 1
14-73683857-GA-AG c.1153_1154delinsAG p.Asp385Ser Missense 11/12 - 1
14-73683857-GA-TG c.1153_1154delinsTG p.Asp385Cys Missense 11/12 - 4
14-73683858-A-C c.1154A>C p.Asp385Ala Missense 11/12 - 71
14-73683859-T-A c.1155T>A p.Asp385Glu Missense 11/12 - 3
14-73683859-T-G c.1155T>G p.Asp385Glu Missense 11/12 - 3
14-73683861-T-C c.1157T>C p.Phe386Ser Missense 11/12 - 3
14-73683863-AT-TG c.1159_1160delinsTG p.Ile387Cys Missense 11/12 - 7
14-73683867-T-G c.1163T>G p.Phe388Cys Missense 11/12 - 1
14-73683869-T-C c.1165T>C p.Tyr389His Missense 11/12 - 1
14-73683870-A-C c.1166A>C p.Tyr389Ser Missense 11/12 - 1
14-73683870-A-G c.1166A>G p.Tyr389Cys Missense 11/12 - 1
14-73683872-A-T c.1168A>T p.Ser390Cys Missense 11/12 - 1
14-73683873-G-A c.1169G>A p.Ser390Asn Missense 11/12 - 1
14-73683873-G-T c.1169G>T p.Ser390Ile Missense 11/12 - 3
14-73683875-G-T c.1171G>T p.Val391Phe Missense 11/12 - 2
14-73683878-C-G c.1174C>G p.Leu392Val Missense 11/12 - 26
14-73683878-CTG-TGT c.1174_1176delinsTGT p.Leu392Cys Missense 11/12 - 1
14-73683879-T-C c.1175T>C p.Leu392Pro Missense 11/12 - 2
14-73683884-G-T c.1180G>T p.Gly394Cys Missense 11/12 - 2
14-73683885-G-T c.1181G>T p.Gly394Val Missense 11/12 - 2
14-73683887-AAA-TGT c.1183_1185delinsTGT p.Lys395Cys Missense 11/12 - 1
14-73683890-G-A c.1186G>A p.Ala396Thr Missense 11/12 - 4
14-73683896-GCA-TGT c.1192_1194delinsTGT p.Ala398Cys Missense 11/12 - 2
14-73683899-ACA-TGT c.1195_1197inv p.Thr399Cys Missense 11/12 - 1
14-73683908-GGA-TGT c.1204_1206delinsTGT p.Gly402Cys Missense 11/12 - 1
14-73683911-GA-TG c.1207_1208delinsTG p.Asp403Cys Missense 11/12 - 1
14-73683916-G-C c.1212G>C p.Trp404Cys Missense 11/12 - 1
14-73683916-G-T c.1212G>T p.Trp404Cys Missense 11/12 - 1
14-73683917-AAC-CAA c.1213_1215delinsCAA p.Asn405Gln Missense 11/12 - 1
14-73683918-A-G c.1214A>G p.Asn405Ser Missense 11/12 - 7
14-73683929-G-A c.1225G>A p.Ala409Thr Missense 11/12 - 5
14-73683929-GC-CT c.1225_1226delinsCT p.Ala409Leu Missense 11/12 - 1
14-73683931-C-G c.1227C>G p.Ala409Ala Synonymous 11/12 - 1
14-73683932-T-A c.1228T>A p.Cys410Ser Missense 11/12 - 1
14-73683933-G-C c.1229G>C p.Cys410Ser Missense 11/12 - 1
14-73683933-G-A c.1229G>A p.Cys410Tyr Missense 11/12 - 46
14-73683936-T-A c.1232T>A p.Phe411Tyr Missense 11/12 - 3
14-73683938-G-A c.1234G>A p.Val412Ile Missense 11/12 - 2
14-73683941-GC-CT c.1237_1238delinsCT p.Ala413Leu Missense 11/12 - 1
14-73683944-A-G c.1240A>G p.Ile414Val Missense 11/12 - 1
14-73683951-T-C c.1247T>C p.Ile416Thr Missense 11/12 - 2
14-73685842-G-A c.1249G>A p.Gly417Ser Missense 12/12 - 1
14-73685842-G-T c.1249G>T p.Gly417Cys Missense 12/12 - 1
14-73685843-G-C c.1250G>C p.Gly417Ala Missense 12/12 - 3
14-73685847-G-C c.1254G>C p.Leu418Phe Missense 12/12 - 2
14-73685848-T-A c.1255T>A p.Cys419Ser Missense 12/12 - 1
14-73685849-G-C c.1256G>C p.Cys419Ser Missense 12/12 - 1
14-73685850-C-T c.1257C>T p.Cys419Cys Synonymous 12/12 - 1
14-73685852-T-G c.1259T>G p.Leu420Arg Missense 12/12 - 9
14-73685855-CA-TG c.1262_1263inv p.Thr421Met Missense 12/12 - 1
14-73685855-C-T c.1262C>T p.Thr421Ile Missense 12/12 - 1
14-73685863-C-G c.1270C>G p.Leu424Val Missense 12/12 - 3
14-73685863-C-T c.1270C>T p.Leu424Phe Missense 12/12 - 1
14-73685864-T-A c.1271T>A p.Leu424His Missense 12/12 - 4
14-73685864-T-G c.1271T>G p.Leu424Arg Missense 12/12 - 5
14-73685866-CT-TG c.1273_1274delinsTG p.Leu425Cys Missense 12/12 - 1
14-73685869-G-C c.1276G>C p.Ala426Pro Missense 12/12 - 11
14-73685870-CC-AG c.1277_1278delinsAG p.Ala426Glu Missense 12/12 - 2
14-73685878-AAG-TGT c.1285_1287delinsTGT p.Lys429Cys Missense 12/12 - 1
14-73685881-AA-GC c.1288_1289delinsGC p.Lys430Ala Missense 12/12 - 1
14-73685885-C-A c.1292C>A p.Ala431Glu Missense 12/12 - 41
14-73685885-CA-AC c.1292_1293delinsAC p.Ala431Asp Missense 12/12 - 2
14-73685885-C-T c.1292C>T p.Ala431Val Missense 12/12 - 4
14-73685888-TG-GT c.1295_1296delinsGT p.Leu432Cys Missense 12/12 - 1
14-73685890-CCA-TGT c.1297_1299delinsTGT p.Pro433Cys Missense 12/12 - 2
14-73685890-C-G c.1297C>G p.Pro433Ala Missense 12/12 - 3
14-73685890-C-T c.1297C>T p.Pro433Ser Missense 12/12 - 1
14-73685891-C-T c.1298C>T p.Pro433Leu Missense 12/12 - 6
14-73685893-G-A c.1300G>A p.Ala434Thr Missense 12/12 - 5
14-73685893-GC-TG c.1300_1301delinsTG p.Ala434Cys Missense 12/12 - 9
14-73685894-C-A c.1301C>A p.Ala434Asp Missense 12/12 - 2
14-73685896-C-T c.1303C>T p.Leu435Phe Missense 12/12 - 26
14-73685896-CT-TG c.1303_1304delinsTG p.Leu435Cys Missense 12/12 - 7
14-73685897-T-A c.1304T>A p.Leu435His Missense 12/12 - 2
14-73685897-T-G c.1304T>G p.Leu435Arg Missense 12/12 - 2
14-73685899-C-A c.1306C>A p.Pro436Thr Missense 12/12 - 1
14-73685899-CC-AT c.1306_1307delinsAT p.Pro436Ile Missense 12/12 - 1
14-73685899-CCA-TGT c.1306_1308delinsTGT p.Pro436Cys Missense 12/12 - 2
14-73685899-C-T c.1306C>T p.Pro436Ser Missense 12/12 - 3
14-73685900-C-A c.1307C>A p.Pro436Gln Missense 12/12 - 12
14-73685900-C-T c.1307C>T p.Pro436Leu Missense 12/12 - 1
14-73685902-A-G c.1309A>G p.Ile437Val Missense 12/12 - 2
14-73685902-AT-TG c.1309_1310delinsTG p.Ile437Cys Missense 12/12 - 3
14-73685904-C-G c.1311C>G p.Ile437Met Missense 12/12 - 1
14-73685905-T-C c.1312T>C p.Ser438Pro Missense 12/12 - 2
14-73685906-C-G c.1313C>G p.Ser438Cys Missense 12/12 - 2
14-73685908-A-G c.1315A>G p.Ile439Val Missense 12/12 - 3
14-73685908-AT-TG c.1315_1316delinsTG p.Ile439Cys Missense 12/12 - 2
14-73685909-T-G c.1316T>G p.Ile439Ser Missense 12/12 - 3
14-73685911-AC-TG c.1318_1319delinsTG p.Thr440Cys Missense 12/12 - 2
14-73685911-CACC-C c.1318_1320del p.Thr440del InFrameDeletion 12/12 - 2
14-73685915-T-G c.1322T>G p.Phe441Cys Missense 12/12 - 1
14-73685917-GGG-TGT c.1324_1326delinsTGT p.Gly442Cys Missense 12/12 - 2
14-73685920-C-G c.1327C>G p.Leu443Val Missense 12/12 - 1
14-73685923-GT-TG c.1330_1331delinsTG p.Val444Cys Missense 12/12 - 2
14-73685927-T-G c.1334T>G p.Phe445Cys Missense 12/12 - 1
14-73685929-T-C c.1336T>C p.Tyr446His Missense 12/12 - 1
14-73685930-A-G c.1337A>G p.Tyr446Cys Missense 12/12 - 3
14-73685933-T-G c.1340T>G p.Phe447Cys Missense 12/12 - 2
14-73685938-ACA-TGT c.1345_1347inv p.Thr449Cys Missense 12/12 - 2
14-73685941-GA-TG c.1348_1349delinsTG p.Asp450Cys Missense 12/12 - 3
14-73685945-A-G c.1352A>G p.Tyr451Cys Missense 12/12 - 2
14-73685947-CT-TG c.1354_1355delinsTG p.Leu452Cys Missense 12/12 - 1
14-73685953-CAG-TGT c.1360_1362delinsTGT p.Gln454Cys Missense 12/12 - 2
14-73685956-CC-TG c.1363_1364delinsTG p.Pro455Cys Missense 12/12 - 1
14-73685960-T-G c.1367T>G p.Phe456Cys Missense 12/12 - 1
14-73685965-GA-TG c.1372_1373delinsTG p.Asp458Cys Missense 12/12 - 1
14-73685968-CAA-TGT c.1375_1377delinsTGT p.Gln459Cys Missense 12/12 - 1
14-73685972-TA-GT c.1379_1380delinsGT p.Leu460Cys Missense 12/12 - 1
14-73685974-GCA-TGT c.1381_1383delinsTGT p.Ala461Cys Missense 12/12 - 1
14-73685978-T-G c.1385T>G p.Phe462Cys Missense 12/12 - 1
14-73685980-CA-TG c.1387_1388inv p.His463Cys Missense 12/12 - 1
14-73685983-CAA-TGT c.1390_1392delinsTGT p.Gln464Cys Missense 12/12 - 1
14-73685986-TTT-GAG c.1393_1395delinsGAG p.Phe465Glu Missense 12/12 - 1
14-73685987-T-G c.1394T>G p.Phe465Cys Missense 12/12 - 1
14-73686310-C-A c.*313C>A - 3-UTRSNV 12/12 - 2
14-73686310-C-T c.*313C>T - 3-UTRSNV 12/12 - 2
14-73686944-G-A c.*947G>A - 3-UTRSNV 12/12 - 2
14-73687144-C-T c.*1147C>T - 3-UTRSNV 12/12 - 2
14-73688861-A-C c.*2864A>C - 3-UTRSNV 12/12 - 1
14-73689629-G-A c.*3632G>A - 3-UTRSNV 12/12 - 1
14-73689719-C-T c.*3722C>T - 3-UTRSNV 12/12 - 1