PSEN1 presenilin 1

Annotation transcript: NM_000021.4

975 unique variant annotations were identified in 1598 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
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
14-73603700-G-A c.-136+409G>A - intron_variant - 1/11 1
14-73603700-G-C c.-136+409G>C - intron_variant - 1/11 1
14-73605495-A-G c.-136+2204A>G - intron_variant - 1/11 1
14-73605531-C-A c.-136+2240C>A - intron_variant - 1/11 1
14-73605531-C-G c.-136+2240C>G - intron_variant - 1/11 1
14-73605531-C-T c.-136+2240C>T - intron_variant - 1/11 1
14-73605996-T-A c.-136+2705T>A - intron_variant - 1/11 1
14-73609112-T-C c.-135-5391T>C - intron_variant - 1/11 1
14-73610264-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
14-73614728-AT-GA c.1_2delinsGA p.M1? Missense 3/12 - 1
14-73614733-A-C c.6A>C p.T2= Synonymous 3/12 - 2
14-73614733-A-G c.6A>G p.T2= Synonymous 3/12 - 2
14-73614733-A-T c.6A>T p.T2= Synonymous 3/12 - 2
14-73614736-G-A c.9G>A p.E3= Synonymous 3/12 - 2
14-73614741-C-T c.14C>T p.P5L Missense 3/12 - 1
14-73614742-T-A c.15T>A p.P5= Synonymous 3/12 - 2
14-73614742-T-C c.15T>C p.P5= Synonymous 3/12 - 2
14-73614742-T-G c.15T>G p.P5= Synonymous 3/12 - 2
14-73614750-T-A c.23T>A p.L8* Nonsense 3/12 - 1
14-73614753-C-T c.26C>T p.S9F Missense 3/12 - 1
14-73614755-TAC-AAG c.28_30delinsAAG p.Y10K Missense 3/12 - 1
14-73614755-TA-CC c.28_29delinsCC p.Y10P Missense 3/12 - 1
14-73614755-TA-GC c.28_29delinsGC p.Y10A Missense 3/12 - 2
14-73614756-A-C c.29A>C p.Y10S Missense 3/12 - 1
14-73614756-A-T c.29A>T p.Y10F Missense 3/12 - 5
14-73614758-TT-CG c.31_32delinsCG p.F11R Missense 3/12 - 2
14-73614762-A-C c.35A>C p.Q12P Missense 3/12 - 1
14-73614763-G-C c.36G>C p.Q12H Missense 3/12 - 1
14-73614763-G-T c.36G>T p.Q12H Missense 3/12 - 1
14-73614764-AA-GG c.37_38delinsGG p.N13G Missense 3/12 - 1
14-73614765-AT-GG c.38_39delinsGG p.N13R Missense 3/12 - 1
14-73614767-GCA-TGT c.40_42delinsTGT p.A14C Missense 3/12 - 1
14-73614767-G-T c.40G>T p.A14S Missense 3/12 - 1
14-73614771-A-C c.44A>C p.Q15P Missense 3/12 - 1
14-73614773-ATG-TGT c.46_48delinsTGT p.M16C Missense 3/12 - 1
14-73614776-T-C c.49T>C p.S17P Missense 3/12 - 1
14-73614776-TCT-GAG c.49_51delinsGAG p.S17E Missense 3/12 - 1
14-73614776-T-G c.49T>G p.S17A Missense 3/12 - 3
14-73614786-A-G c.59A>G p.N20S Missense 3/12 - 1
14-73614788-CA-GC c.61_62delinsGC p.H21A Missense 3/12 - 2
14-73614788-CA-TG c.61_62inv p.H21C Missense 3/12 - 2
14-73614790-C-G c.63C>G p.H21Q Missense 3/12 - 1
14-73614790-C-T c.63C>T p.H21= Synonymous 3/12 - 1
14-73614794-AG-GA c.67_68delinsGA p.S23D Missense 3/12 - 1
14-73614794-AG-GC c.67_68delinsGC p.S23A Missense 3/12 - 2
14-73614794-A-T c.67A>T p.S23C Missense 3/12 - 2
14-73614798-A-G c.71A>G p.N24S Missense 3/12 - 2
14-73614799-T-C c.72T>C p.N24= Synonymous 3/12 - 1
14-73614807-G-A c.80G>A p.R27H Missense 3/12 - 2
14-73614807-G-T c.80G>T p.R27L Missense 3/12 - 1
14-73614809-AG-GA c.82_83delinsGA p.S28D Missense 3/12 - 1
14-73614809-AG-GC c.82_83delinsGC p.S28A Missense 3/12 - 2
14-73614809-A-T c.82A>T p.S28C Missense 3/12 - 1
14-73614810-GC-AG c.83_84delinsAG p.S28K 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 7
14-73637505-AA-GC c.88_89delinsGC p.N30A Missense 4/12 - 1
14-73637505-A-T c.88A>T p.N30Y Missense 4/12 - 1
14-73637508-GA-TG c.91_92delinsTG p.D31C Missense 4/12 - 1
14-73637513-T-C c.96T>C p.N32= Synonymous 4/12 - 1
14-73637514-AG-GC c.97_98delinsGC p.R33A Missense 4/12 - 1
14-73637514-A-C c.97A>C p.R33= Synonymous 4/12 - 1
14-73637516-A-G c.99A>G p.R33= Synonymous 4/12 - 1
14-73637517-GAACGGC-G c.102_107del p.R35_Q36del InFrameDeletion 4/12 - 1
14-73637520-C-T c.103C>T p.R35W Missense 4/12 - 1
14-73637521-G-A c.104G>A p.R35Q Missense 4/12 - 9
14-73637529-CA-GC c.112_113delinsGC p.H38A Missense 4/12 - 1
14-73637531-C-A c.114C>A p.H38Q Missense 4/12 - 1
14-73637532-A-T c.115A>T p.N39Y Missense 4/12 - 1
14-73637532-AACG-A c.118_120del p.D40del InFrameDeletion 4/12 - 3
14-73637535-G-A c.118G>A p.D40N Missense 4/12 - 2
14-73637537-C-A c.120C>A p.D40E Missense 4/12 - 1
14-73637540-A-C c.123A>C p.R41S Missense 4/12 - 3
14-73637540-A-T c.123A>T p.R41S Missense 4/12 - 3
14-73637541-CG-GC c.124_125delinsGC p.R42A Missense 4/12 - 1
14-73637541-C-T c.124C>T p.R42W Missense 4/12 - 1
14-73637542-G-A c.125G>A p.R42Q Missense 4/12 - 1
14-73637542-G-C c.125G>C p.R42P Missense 4/12 - 1
14-73637554-A-G c.137A>G p.H46R Missense 4/12 - 8
14-73637556-C-G c.139C>G p.P47A Missense 4/12 - 2
14-73637559-G-A c.142G>A p.E48K Missense 4/12 - 1
14-73637559-G-T c.142G>T p.E48* Nonsense 4/12 - 1
14-73637563-C-T c.146C>T p.P49L Missense 4/12 - 2
14-73637565-TT-AA c.148_149inv p.L50K Missense 4/12 - 1
14-73637568-TC-GA c.151_152inv p.S51D Missense 4/12 - 2
14-73637568-TCT-GAG c.151_153delinsGAG p.S51E Missense 4/12 - 1
14-73637568-T-G c.151T>G p.S51A Missense 4/12 - 6
14-73637569-C-G c.152C>G p.S51C Missense 4/12 - 2
14-73637570-T-A c.153T>A p.S51= Synonymous 4/12 - 1
14-73637570-T-C c.153T>C p.S51= Synonymous 4/12 - 1
14-73637570-T-G c.153T>G p.S51= Synonymous 4/12 - 1
14-73637570-TA-T c.155del p.N52Mfs*22 Frameshift 4/12 - 1
14-73637573-T-A c.156T>A p.N52K Missense 4/12 - 1
14-73637573-T-G c.156T>G p.N52K Missense 4/12 - 1
14-73637574-G-T c.157G>T p.G53* Nonsense 4/12 - 1
14-73637578-G-A c.161G>A p.R54Q Missense 4/12 - 1
14-73637581-C-G c.164C>G p.P55R Missense 4/12 - 1
14-73637583-CAG-TGT c.166_168delinsTGT p.Q56C Missense 4/12 - 1
14-73637587-G-C c.170G>C p.G57A Missense 4/12 - 1
14-73637596-G-A c.179G>A p.R60Q Missense 4/12 - 1
14-73637596-G-T c.179G>T p.R60L Missense 4/12 - 1
14-73637598-CA-GC c.181_182delinsGC p.Q61A Missense 4/12 - 1
14-73637599-A-T c.182A>T p.Q61L Missense 4/12 - 1
14-73637601-G-C c.184G>C p.V62L Missense 4/12 - 1
14-73637605-T-G c.188T>G p.V63G Missense 4/12 - 1
14-73637609-G-C c.192G>C p.E64D Missense 4/12 - 7
14-73637609-G-T c.192G>T p.E64D Missense 4/12 - 7
14-73637610-CAA-TGT c.193_195delinsTGT p.Q65C Missense 4/12 - 1
14-73637610-C-T c.193C>T p.Q65* Nonsense 4/12 - 1
14-73637614-A-G c.197A>G p.D66G Missense 4/12 - 1
14-73637622-GAA-TTT c.205_207delinsTTT p.E69F Missense 4/12 - 1
14-73637624-A-C c.207A>C p.E69D Missense 4/12 - 1
14-73637624-A-T c.207A>T p.E69D Missense 4/12 - 2
14-73637625-G-A c.208G>A p.D70N Missense 4/12 - 1
14-73637628-GAG-TGT c.211_213delinsTGT p.E71C Missense 4/12 - 1
14-73637631-G-A c.214G>A p.E72K Missense 4/12 - 1
14-73637632-A-C c.215A>C p.E72A Missense 4/12 - 1
14-73637632-A-AG c.216dup p.L73Afs*29 Frameshift 4/12 - 1
14-73637635-T-C c.218T>C p.L73P Missense 4/12 - 2
14-73637637-ACA-GAC c.220_222delinsGAC p.T74D Missense 4/12 - 1
14-73637637-A-G c.220A>G p.T74A Missense 4/12 - 1
14-73637641-TG-GT c.224_225delinsGT p.L75C Missense 4/12 - 1
14-73637647-A-G c.230A>G p.Y77C Missense 4/12 - 2
14-73637649-G-T c.232G>T p.G78C Missense 4/12 - 3
14-73637651-C-T c.234C>T p.G78= Synonymous 4/12 - 1
14-73637652-GC-TG c.235_236delinsTG p.A79C Missense 4/12 - 1
14-73637653-CC-AG c.236_237delinsAG p.A79E Missense 4/12 - 1
14-73637653-C-G c.236C>G p.A79G Missense 4/12 - 1
14-73637653-C-T c.236C>T p.A79V Missense 4/12 - 69
14-73637654-C-A c.237C>A p.A79= Synonymous 4/12 - 1
14-73637654-C-G c.237C>G p.A79= Synonymous 4/12 - 1
14-73637654-C-T c.237C>T p.A79= Synonymous 4/12 - 1
14-73637655-AAG-TGT c.238_240delinsTGT p.K80C Missense 4/12 - 2
14-73637658-CA-TG c.241_242inv p.H81C Missense 4/12 - 1
14-73637659-A-G c.242A>G p.H81R Missense 4/12 - 1
14-73637661-G-C c.244G>C p.V82L Missense 4/12 - 5
14-73637661-G-T c.244G>T p.V82L Missense 4/12 - 5
14-73637661-GTG-TGT c.244_246delinsTGT p.V82C Missense 4/12 - 2
14-73637661-GTGATCA-G c.247_252del p.I83_M84del InFrameDeletion 4/12 - 1
14-73637664-AT-TG c.247_248delinsTG p.I83C Missense 4/12 - 1
14-73637665-T-C c.248T>C p.I83T Missense 4/12 - 3
14-73637667-A-C c.250A>C p.M84L Missense 4/12 - 1
14-73637667-A-G c.250A>G p.M84V Missense 4/12 - 6
14-73637667-A-T c.250A>T p.M84L Missense 4/12 - 1
14-73637667-ATG-TGT c.250_252delinsTGT p.M84C Missense 4/12 - 2
14-73637667-CATG-C c.250_252del p.M84del InFrameDeletion 4/12 - 1
14-73637668-T-C c.251T>C p.M84T Missense 4/12 - 2
14-73637670-CT-TG c.253_254delinsTG p.L85C Missense 4/12 - 2
14-73637671-T-C c.254T>C p.L85P Missense 4/12 - 15
14-73637679-CC-TG c.262_263delinsTG p.P88C Missense 4/12 - 1
14-73637679-C-T c.262C>T p.P88S Missense 4/12 - 1
14-73637680-C-A c.263C>A p.P88H Missense 4/12 - 1
14-73637680-C-T c.263C>T p.P88L Missense 4/12 - 3
14-73637682-G-C c.265G>C p.V89L Missense 4/12 - 21
14-73637682-G-T c.265G>T p.V89L Missense 4/12 - 18
14-73637682-GTG-TGT c.265_267delinsTGT p.V89C Missense 4/12 - 1
14-73637683-T-G c.266T>G p.V89G Missense 4/12 - 1
14-73637685-AC-TG c.268_269delinsTG p.T90C Missense 4/12 - 1
14-73637686-C-T c.269C>T p.T90I Missense 4/12 - 1
14-73637689-CTCTGCATGGTGGTGGTCGTGG-C c.272_292del p.L91_A98delinsP MultiAAMissense 4/12 - 1
14-73637689-T-A c.272T>A p.L91H Missense 4/12 - 1
14-73637691-T-A c.274T>A p.C92S Missense 4/12 - 11
14-73637692-G-C c.275G>C p.C92S Missense 4/12 - 11
14-73637697-G-A c.280G>A p.V94M Missense 4/12 - 5
14-73637697-G-C c.280G>C p.V94L Missense 4/12 - 1
14-73637697-G-T c.280G>T p.V94L Missense 4/12 - 1
14-73637697-GTG-TGT c.280_282delinsTGT p.V94C Missense 4/12 - 1
14-73637701-T-C c.284T>C p.V95A Missense 4/12 - 1
14-73637703-G-A c.286G>A p.V96I Missense 4/12 - 1
14-73637703-G-T c.286G>T p.V96F Missense 4/12 - 6
14-73637703-GT-TG c.286_287delinsTG p.V96C Missense 4/12 - 1
14-73637706-G-A c.289G>A p.V97M Missense 4/12 - 1
14-73637706-G-C c.289G>C p.V97L Missense 4/12 - 16
14-73637706-G-T c.289G>T p.V97L Missense 4/12 - 18
14-73637706-GTG-TTT c.289_291delinsTTT p.V97F Missense 4/12 - 1
14-73637709-G-A c.292G>A p.A98T Missense 4/12 - 1
14-73637712-A-G c.295A>G p.T99A Missense 4/12 - 2
14-73637715-A-T c.298A>T p.I100F Missense 4/12 - 1
14-73637715-AT-TG c.298_299delinsTG p.I100C Missense 4/12 - 3
14-73637715-A-AT c.300dup p.K101* Nonsense 4/12 - 1
14-73637718-AA-GC c.301_302delinsGC p.K101A Missense 4/12 - 1
14-73637718-AAG-TGT c.301_303delinsTGT p.K101C Missense 4/12 - 3
14-73637721-TCA-GAC c.304_306delinsGAC p.S102D Missense 4/12 - 1
14-73637721-T-G c.304T>G p.S102A Missense 4/12 - 2
14-73637722-CA-GT c.305_306delinsGT p.S102C Missense 4/12 - 3
14-73637724-GT-TG c.307_308delinsTG p.V103C Missense 4/12 - 2
14-73637725-T-C c.308T>C p.V103A Missense 4/12 - 1
14-73637725-T-G c.308T>G p.V103G Missense 4/12 - 2
14-73637727-AG-GC c.310_311delinsGC p.S104A Missense 4/12 - 1
14-73637727-A-T c.310A>T p.S104C Missense 4/12 - 1
14-73637730-T-A c.313T>A p.F105I Missense 4/12 - 5
14-73637730-T-C c.313T>C p.F105L Missense 4/12 - 8
14-73637730-T-G c.313T>G p.F105V Missense 4/12 - 2
14-73637730-TT-GC c.313_314delinsGC p.F105A Missense 4/12 - 1
14-73637732-T-A c.315T>A p.F105L Missense 4/12 - 6
14-73637732-T-G c.315T>G p.F105L Missense 4/12 - 6
14-73637729-CTTT-C c.314_316del p.F105del InFrameDeletion 4/12 - 1
14-73637731-T-C c.314T>C p.F105S Missense 4/12 - 1
14-73637731-T-G c.314T>G p.F105C Missense 4/12 - 9
14-73637731-TTTA-T c.316_318del p.Y106del InFrameDeletion 4/12 - 1
14-73637733-TA-AC c.316_317delinsAC p.Y106T Missense 4/12 - 1
14-73637733-TA-GC c.316_317delinsGC p.Y106A Missense 4/12 - 1
14-73637734-A-G c.317A>G p.Y106C Missense 4/12 - 2
14-73637736-A-G c.319A>G p.T107A Missense 4/12 - 1
14-73637739-CG-GC c.322_323delinsGC p.R108A Missense 4/12 - 1
14-73637740-G-A c.323G>A p.R108Q Missense 4/12 - 2
14-73637742-AA-GC c.325_326delinsGC p.K109A Missense 4/12 - 1
14-73637742-A-T c.325A>T p.K109* Nonsense 4/12 - 1
14-73637745-G-T c.328G>T p.D110Y Missense 4/12 - 1
14-73637746-A-C c.329A>C p.D110A Missense 4/12 - 1
14-73637748-G-T c.331G>T p.G111W Missense 4/12 - 1
14-73637749-G-C c.332G>C p.G111A Missense 4/12 - 1
14-73637749-G-T c.332G>T p.G111V Missense 4/12 - 4
14-73637751-CA-GC c.334_335delinsGC p.Q112A Missense 4/12 - 1
14-73637751-CAG-TGT c.334_336delinsTGT p.Q112C Missense 4/12 - 6
14-73637754-CT-GC c.337_338delinsGC p.L113A Missense 4/12 - 1
14-73637755-T-A c.338T>A p.L113Q Missense 4/12 - 5
14-73637755-T-C c.338T>C p.L113P Missense 4/12 - 24
14-73638629-G-C c.338+874G>C - IntronicSNV - 4/11 1
14-73640275-A-T c.340A>T p.I114F Missense 5/12 - 1
14-73640275-AT-GC c.340_341delinsGC p.I114A Missense 5/12 - 1
14-73640275-AT-TG c.340_341delinsTG p.I114C Missense 5/12 - 1
14-73640276-T-C c.341T>C p.I114T Missense 5/12 - 1
14-73640278-TA-GC c.343_344delinsGC p.Y115A Missense 5/12 - 1
14-73640278-T-C c.343T>C p.Y115H Missense 5/12 - 23
14-73640279-A-G c.344A>G p.Y115C Missense 5/12 - 19
14-73640281-AC-CT c.346_347delinsCT p.T116L Missense 5/12 - 1
14-73640281-A-G c.346A>G p.T116A Missense 5/12 - 1
14-73640282-C-A c.347C>A p.T116N Missense 5/12 - 14
14-73640282-CC-GG c.347_348inv p.T116R Missense 5/12 - 1
14-73640282-C-T c.347C>T p.T116I Missense 5/12 - 15
14-73640284-C-A c.349C>A p.P117T Missense 5/12 - 1
14-73640284-C-G c.349C>G p.P117A Missense 5/12 - 13
14-73640284-C-T c.349C>T p.P117S Missense 5/12 - 8
14-73640285-C-A c.350C>A p.P117Q Missense 5/12 - 2
14-73640285-C-G c.350C>G p.P117R Missense 5/12 - 15
14-73640285-C-T c.350C>T p.P117L Missense 5/12 - 50
14-73640287-TT-GC c.352_353delinsGC p.F118A Missense 5/12 - 1
14-73640291-CA-TG c.356_357inv p.T119M Missense 5/12 - 1
14-73640291-C-T c.356C>T p.T119I Missense 5/12 - 8
14-73640293-G-A c.358G>A p.E120K Missense 5/12 - 14
14-73640293-GAA-TGT c.358_360delinsTGT p.E120C Missense 5/12 - 1
14-73640293-G-C c.358G>C p.E120Q Missense 5/12 - 1
14-73640293-G-T c.358G>T p.E120* Nonsense 5/12 - 1
14-73640294-A-C c.359A>C p.E120A Missense 5/12 - 1
14-73640294-A-G c.359A>G p.E120G Missense 5/12 - 8
14-73640295-A-C c.360A>C p.E120D Missense 5/12 - 6
14-73640295-A-T c.360A>T p.E120D Missense 5/12 - 4
14-73640296-GA-TG c.361_362delinsTG p.D121C Missense 5/12 - 1
14-73640297-A-C c.362A>C p.D121A Missense 5/12 - 1
14-73640299-A-C c.364A>C p.T122P Missense 5/12 - 2
14-73640302-G-A c.367G>A p.E123K Missense 5/12 - 5
14-73640302-GAG-TGT c.367_369delinsTGT p.E123C Missense 5/12 - 1
14-73640314-C-A c.379C>A p.Q127K Missense 5/12 - 1
14-73640314-CAG-TGT c.379_381delinsTGT p.Q127C Missense 5/12 - 1
14-73640314-CCAGA-C c.379_382del p.Q127Efs*7 Frameshift 5/12 - 1
14-73640320-GC-TG c.385_386delinsTG p.A129C Missense 5/12 - 1
14-73640324-T-C c.389T>C p.L130P Missense 5/12 - 1
14-73640326-CA-TG c.391_392inv p.H131C Missense 5/12 - 1
14-73640326-C-T c.391C>T p.H131Y Missense 5/12 - 1
14-73640327-A-G c.392A>G p.H131R Missense 5/12 - 3
14-73640329-TC-AA c.394_395delinsAA p.S132K Missense 5/12 - 1
14-73640329-TCA-GAC c.394_396delinsGAC p.S132D Missense 5/12 - 2
14-73640329-T-G c.394T>G p.S132A Missense 5/12 - 8
14-73640330-CA-GT c.395_396delinsGT p.S132C Missense 5/12 - 4
14-73640336-T-C c.401T>C p.L134P Missense 5/12 - 1
14-73640336-T-G c.401T>G p.L134R Missense 5/12 - 1
14-73640338-AA-TG c.403_404delinsTG p.N135C Missense 5/12 - 1
14-73640338-A-G c.403A>G p.N135D Missense 5/12 - 9
14-73640338-A-T c.403A>T p.N135Y Missense 5/12 - 4
14-73640339-A-G c.404A>G p.N135S Missense 5/12 - 15
14-73640339-A-T c.404A>T p.N135I Missense 5/12 - 2
14-73640342-C-G c.407C>G p.A136G Missense 5/12 - 9
14-73640342-C-T c.407C>T p.A136V Missense 5/12 - 1
14-73640344-G-A c.409G>A p.A137T Missense 5/12 - 1
14-73640345-C-G c.410C>G p.A137G Missense 5/12 - 1
14-73640347-A-G c.412A>G p.I138V Missense 5/12 - 1
14-73640350-A-C c.415A>C p.M139L Missense 5/12 - 2
14-73640350-A-G c.415A>G p.M139V Missense 5/12 - 42
14-73640350-A-T c.415A>T p.M139L Missense 5/12 - 4
14-73640350-ATG-TGT c.415_417delinsTGT p.M139C Missense 5/12 - 1
14-73640351-T-A c.416T>A p.M139K Missense 5/12 - 3
14-73640351-T-C c.416T>C p.M139T Missense 5/12 - 17
14-73640352-G-A c.417G>A p.M139I Missense 5/12 - 12
14-73640352-G-C c.417G>C p.M139I Missense 5/12 - 12
14-73640352-G-T c.417G>T p.M139I Missense 5/12 - 12
14-73640353-A-C c.418A>C p.I140L Missense 5/12 - 1
14-73640353-A-G c.418A>G p.I140V Missense 5/12 - 2
14-73640355-C-A c.420C>A p.I140= Synonymous 5/12 - 1
14-73640356-AG-GA c.421_422delinsGA p.S141D Missense 5/12 - 1
14-73640356-AG-GC c.421_422delinsGC p.S141A Missense 5/12 - 1
14-73640356-A-T c.421A>T p.S141C Missense 5/12 - 2
14-73640359-G-A c.424G>A p.V142I Missense 5/12 - 4
14-73640359-G-T c.424G>T p.V142F Missense 5/12 - 2
14-73640362-A-G c.427A>G p.I143V Missense 5/12 - 10
14-73640362-A-T c.427A>T p.I143F Missense 5/12 - 7
14-73640363-T-A c.428T>A p.I143N Missense 5/12 - 3
14-73640363-T-C c.428T>C p.I143T Missense 5/12 - 45
14-73640364-T-G c.429T>G p.I143M Missense 5/12 - 5
14-73640371-A-C c.436A>C p.M146L Missense 5/12 - 804
14-73640371-A-G c.436A>G p.M146V Missense 5/12 - 779
14-73640371-A-T c.436A>T p.M146L Missense 5/12 - 774
14-73640371-AT-GC c.436_437delinsGC p.M146A Missense 5/12 - 1
14-73640373-G-A c.438G>A p.M146I Missense 5/12 - 39
14-73640373-G-C c.438G>C p.M146I Missense 5/12 - 33
14-73640373-G-T c.438G>T p.M146I Missense 5/12 - 34
14-73640375-C-T c.440C>T p.T147I Missense 5/12 - 6
14-73640377-A-G c.442A>G p.I148V Missense 5/12 - 3
14-73640377-ATC-TGG c.442_444delinsTGG p.I148W Missense 5/12 - 1
14-73640380-C-T c.445C>T p.L149F Missense 5/12 - 1
14-73640380-CT-GC c.445_446delinsGC p.L149A Missense 5/12 - 1
14-73640383-C-G c.448C>G p.L150V Missense 5/12 - 1
14-73640384-T-C c.449T>C p.L150P Missense 5/12 - 13
14-73640383-C-T c.448C>T p.L150= Synonymous 5/12 - 1
14-73640385-G-A c.450G>A p.L150= Synonymous 5/12 - 1
14-73640385-G-C c.450G>C p.L150= Synonymous 5/12 - 1
14-73640385-G-T c.450G>T p.L150= Synonymous 5/12 - 1
14-73640386-G-A c.451G>A p.V151M Missense 5/12 - 1
14-73640392-C-G c.457C>G p.L153V Missense 5/12 - 10
14-73640392-C-T c.457C>T p.L153= Synonymous 5/12 - 1
14-73640395-T-A c.460T>A p.Y154N Missense 5/12 - 5
14-73640396-A-G c.461A>G p.Y154C Missense 5/12 - 1
14-73640404-AGG-TGT c.469_471delinsTGT p.R157C Missense 5/12 - 1
14-73640406-G-C c.471G>C p.R157S Missense 5/12 - 1
14-73640406-G-T c.471G>T p.R157S Missense 5/12 - 3
14-73640407-T-C c.472T>C p.C158R Missense 5/12 - 2
14-73640408-G-A c.473G>A p.C158Y Missense 5/12 - 1
14-73640409-C-T c.474C>T p.C158= Synonymous 5/12 - 1
14-73640410-T-C c.475T>C p.Y159H Missense 5/12 - 1
14-73640411-A-G c.476A>G p.Y159C Missense 5/12 - 1
14-73640411-A-T c.476A>T p.Y159F Missense 5/12 - 1
14-73640413-AAG-TGT c.478_480delinsTGT p.K160C 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
14-73640528-A-T c.480+113A>T - IntronicSNV - 5/11 1
14-73640638-A-G c.480+223A>G - IntronicSNV - 5/11 1
14-73640916-C-T c.480+501C>T - IntronicSNV - 5/11 1
14-73653561-GT-TG c.481_482delinsTG p.V161C Missense 6/12 - 1
14-73653565-T-C c.485T>C p.I162T Missense 6/12 - 1
14-73653565-T-G c.485T>G p.I162S Missense 6/12 - 1
14-73653567-C-T c.487C>T p.H163Y Missense 6/12 - 24
14-73653568-A-C c.488A>C p.H163P Missense 6/12 - 11
14-73653568-A-G c.488A>G p.H163R Missense 6/12 - 60
14-73653571-C-G c.491C>G p.A164G Missense 6/12 - 1
14-73653571-C-T c.491C>T p.A164V Missense 6/12 - 1
14-73653573-T-G c.493T>G p.W165G Missense 6/12 - 4
14-73653575-G-C c.495G>C p.W165C Missense 6/12 - 7
14-73653575-G-T c.495G>T p.W165C Missense 6/12 - 7
14-73653576-C-G c.496C>G p.L166V Missense 6/12 - 5
14-73653576-CT-AG c.496_497inv p.L166S Missense 6/12 - 1
14-73653576-CT-GC c.496_497delinsGC p.L166A Missense 6/12 - 2
14-73653576-CT-TG c.496_497delinsTG p.L166C Missense 6/12 - 3
14-73653576-CTT-GAG c.496_498delinsGAG p.L166E Missense 6/12 - 1
14-73653576-CTT-TGG c.496_498delinsTGG p.L166W Missense 6/12 - 2
14-73653576-GCTT-G c.496_498del p.L166del InFrameDeletion 6/12 - 4
14-73653577-T-A c.497T>A p.L166H Missense 6/12 - 5
14-73653577-T-C c.497T>C p.L166P Missense 6/12 - 268
14-73653577-T-G c.497T>G p.L166R Missense 6/12 - 9
14-73653579-AT-TG c.499_500delinsTG p.I167C Missense 6/12 - 1
14-73653576-CTTA-C c.501_503del p.I168del InFrameDeletion 6/12 - 9
14-73653582-TATA-T c.502_504del p.I168del InFrameDeletion 6/12 - 3
14-73653583-T-C c.503T>C p.I168T Missense 6/12 - 3
14-73653585-T-C c.505T>C p.S169P Missense 6/12 - 9
14-73653585-TCA-GAC c.505_507delinsGAC p.S169D Missense 6/12 - 1
14-73653585-T-G c.505T>G p.S169A Missense 6/12 - 1
14-73653586-CA-GT c.506_507delinsGT p.S169C Missense 6/12 - 1
14-73653586-C-T c.506C>T p.S169L Missense 6/12 - 9
14-73653583-TATC-T c.507_509del p.S170del InFrameDeletion 6/12 - 15
14-73653588-T-C c.508T>C p.S170P Missense 6/12 - 2
14-73653589-C-G c.509C>G p.S170C Missense 6/12 - 1
14-73653589-C-T c.509C>T p.S170F Missense 6/12 - 32
14-73653591-C-A c.511C>A p.L171I Missense 6/12 - 1
14-73653592-T-C c.512T>C p.L171P Missense 6/12 - 7
14-73653595-T-G c.515T>G p.L172W Missense 6/12 - 1
14-73653595-TG-GT c.515_516delinsGT p.L172C Missense 6/12 - 1
14-73653598-T-G c.518T>G p.L173W Missense 6/12 - 4
14-73653599-G-C c.519G>C p.L173F Missense 6/12 - 13
14-73653599-G-T c.519G>T p.L173F Missense 6/12 - 14
14-73653597-TTGC-T c.520_522del p.L174del InFrameDeletion 6/12 - 1
14-73653600-C-A c.520C>A p.L174M Missense 6/12 - 4
14-73653601-T-G c.521T>G p.L174R Missense 6/12 - 6
14-73653604-T-C c.524T>C p.F175S Missense 6/12 - 2
14-73653606-T-C c.526T>C p.F176L Missense 6/12 - 1
14-73653606-T-G c.526T>G p.F176V Missense 6/12 - 1
14-73653608-T-A c.528T>A p.F176L Missense 6/12 - 1
14-73653608-T-G c.528T>G p.F176L Missense 6/12 - 1
14-73653607-T-G c.527T>G p.F176C Missense 6/12 - 1
14-73653609-T-C c.529T>C p.F177L Missense 6/12 - 8
14-73653609-T-G c.529T>G p.F177V Missense 6/12 - 3
14-73653611-T-A c.531T>A p.F177L Missense 6/12 - 8
14-73653611-T-G c.531T>G p.F177L Missense 6/12 - 8
14-73653610-T-C c.530T>C p.F177S Missense 6/12 - 5
14-73653610-T-G c.530T>G p.F177C Missense 6/12 - 1
14-73653612-T-C c.532T>C p.S178P Missense 6/12 - 4
14-73653612-TCA-GAC c.532_534delinsGAC p.S178D Missense 6/12 - 1
14-73653612-T-G c.532T>G p.S178A Missense 6/12 - 1
14-73653613-CA-GT c.533_534delinsGT p.S178C Missense 6/12 - 1
14-73653616-T-G c.536T>G p.F179C Missense 6/12 - 1
14-73653618-AT-TG c.538_539delinsTG p.I180C Missense 6/12 - 1
14-73653619-T-A c.539T>A p.I180N Missense 6/12 - 1
14-73653622-A-G c.542A>G p.Y181C Missense 6/12 - 2
14-73653624-T-G c.544T>G p.L182V Missense 6/12 - 1
14-73653628-G-C c.548G>C p.G183A Missense 6/12 - 1
14-73653628-G-T c.548G>T p.G183V Missense 6/12 - 22
14-73659353-GAA-TGT c.550_552delinsTGT p.E184C Missense 7/12 - 1
14-73659354-A-G c.551A>G p.E184G Missense 7/12 - 6
14-73659355-A-C c.552A>C p.E184D Missense 7/12 - 19
14-73659355-A-T c.552A>T p.E184D Missense 7/12 - 19
14-73659356-GT-TG c.553_554delinsTG p.V185W Missense 7/12 - 1
14-73659362-AAA-TGT c.559_561delinsTGT p.K187C Missense 7/12 - 1
14-73659365-A-C c.562A>C p.T188P Missense 7/12 - 1
14-73659365-ACC-GAG c.562_564delinsGAG p.T188E Missense 7/12 - 1
14-73659365-AC-TG c.562_563delinsTG p.T188C Missense 7/12 - 1
14-73659365-A-G c.562A>G p.T188A Missense 7/12 - 1
14-73659366-CC-AG c.563_564delinsAG p.T188K Missense 7/12 - 1
14-73659369-A-G c.566A>G p.Y189C Missense 7/12 - 2
14-73659371-AA-CT c.568_569delinsCT p.N190L Missense 7/12 - 1
14-73659371-AA-TG c.568_569delinsTG p.N190C Missense 7/12 - 1
14-73659372-A-G c.569A>G p.N190S Missense 7/12 - 1
14-73659374-G-A c.571G>A p.V191I Missense 7/12 - 1
14-73659374-GT-TG c.571_572delinsTG p.V191C Missense 7/12 - 1
14-73659375-T-C c.572T>C p.V191A Missense 7/12 - 4
14-73659377-GC-TG c.574_575delinsTG p.A192C Missense 7/12 - 2
14-73659380-GTG-TGT c.577_579delinsTGT p.V193C Missense 7/12 - 1
14-73659383-G-A c.580G>A p.D194N Missense 7/12 - 1
14-73659383-GAC-CAA c.580_582delinsCAA p.D194Q Missense 7/12 - 1
14-73659383-GA-CT c.580_581delinsCT p.D194L Missense 7/12 - 1
14-73659383-GA-TG c.580_581delinsTG p.D194C Missense 7/12 - 1
14-73659385-C-A c.582C>A p.D194E Missense 7/12 - 1
14-73659385-C-G c.582C>G p.D194E Missense 7/12 - 1
14-73659387-A-G c.584A>G p.Y195C Missense 7/12 - 1
14-73659387-A-T c.584A>T p.Y195F Missense 7/12 - 1
14-73659389-AT-TG c.586_587delinsTG p.I196C Missense 7/12 - 1
14-73659392-AC-GT c.589_590inv p.T197V Missense 7/12 - 1
14-73659392-A-G c.589A>G p.T197A Missense 7/12 - 1
14-73659399-C-T c.596C>T p.A199V Missense 7/12 - 1
14-73659401-C-T c.598C>T p.L200F Missense 7/12 - 1
14-73659402-T-A c.599T>A p.L200H Missense 7/12 - 1
14-73659402-T-C c.599T>C p.L200P Missense 7/12 - 1
14-73659403-C-T c.600C>T p.L200= Synonymous 7/12 - 1
14-73659407-A-T c.604A>T p.I202F Missense 7/12 - 11
14-73659412-G-C c.609G>C p.W203C Missense 7/12 - 2
14-73659412-G-T c.609G>T p.W203C Missense 7/12 - 2
14-73659413-AA-TG c.610_611delinsTG p.N204C Missense 7/12 - 1
14-73659419-G-A c.616G>A p.G206S Missense 7/12 - 12
14-73659419-GG-CT c.616_617delinsCT p.G206L Missense 7/12 - 1
14-73659420-G-A c.617G>A p.G206D Missense 7/12 - 13
14-73659420-G-C c.617G>C p.G206A Missense 7/12 - 56
14-73659420-G-T c.617G>T p.G206V Missense 7/12 - 15
14-73659422-GTG-TGT c.619_621delinsTGT p.V207C Missense 7/12 - 1
14-73659423-T-C c.620T>C p.V207A Missense 7/12 - 1
14-73659425-G-T c.622G>T p.V208L Missense 7/12 - 1
14-73659425-GTG-TGT c.622_624delinsTGT p.V208C Missense 7/12 - 1
14-73659428-G-A c.625G>A p.G209R Missense 7/12 - 9
14-73659428-G-C c.625G>C p.G209R Missense 7/12 - 9
14-73659428-GGA-TGT c.625_627delinsTGT p.G209C Missense 7/12 - 1
14-73659429-G-A c.626G>A p.G209E Missense 7/12 - 10
14-73659429-G-C c.626G>C p.G209A Missense 7/12 - 5
14-73659429-G-T c.626G>T p.G209V Missense 7/12 - 19
14-73659431-ATG-TGT c.628_630delinsTGT p.M210C Missense 7/12 - 1
14-73659432-T-G c.629T>G p.M210R Missense 7/12 - 1
14-73659434-AT-TG c.631_632delinsTG p.I211C Missense 7/12 - 1
14-73659433-GATTTCCATTCACTGGAA-G c.632_648del p.I211Rfs*14 Frameshift 7/12 - 1
14-73659436-T-G c.633T>G p.I211M Missense 7/12 - 2
14-73659437-TC-GA c.634_635inv p.S212D Missense 7/12 - 1
14-73659437-T-G c.634T>G p.S212A Missense 7/12 - 1
14-73659438-C-A c.635C>A p.S212Y Missense 7/12 - 19
14-73659438-C-G c.635C>G p.S212C Missense 7/12 - 1
14-73659440-A-C c.637A>C p.I213L Missense 7/12 - 4
14-73659440-A-T c.637A>T p.I213F Missense 7/12 - 2
14-73659440-AT-CC c.637_638delinsCC p.I213P Missense 7/12 - 1
14-73659440-AT-TG c.637_638delinsTG p.I213C Missense 7/12 - 1
14-73659441-T-C c.638T>C p.I213T Missense 7/12 - 29
14-73659443-C-A c.640C>A p.H214N Missense 7/12 - 1
14-73659443-CA-TG c.640_641inv p.H214C Missense 7/12 - 1
14-73659443-C-G c.640C>G p.H214D Missense 7/12 - 4
14-73659443-C-T c.640C>T p.H214Y Missense 7/12 - 8
14-73659444-A-G c.641A>G p.H214R Missense 7/12 - 4
14-73659448-G-C c.645G>C p.W215C Missense 7/12 - 1
14-73659448-G-T c.645G>T p.W215C Missense 7/12 - 1
14-73659449-AAA-TGT c.646_648delinsTGT p.K216C Missense 7/12 - 1
14-73659452-G-A c.649G>A p.G217S Missense 7/12 - 1
14-73659452-G-C c.649G>C p.G217R Missense 7/12 - 7
14-73659452-G-T c.649G>T p.G217C Missense 7/12 - 1
14-73659453-G-A c.650G>A p.G217D Missense 7/12 - 10
14-73659453-G-C c.650G>C p.G217A Missense 7/12 - 1
14-73659455-CCA-TGT c.652_654delinsTGT p.P218C Missense 7/12 - 1
14-73659455-C-T c.652C>T p.P218S Missense 7/12 - 1
14-73659456-C-T c.653C>T p.P218L Missense 7/12 - 3
14-73659458-C-T c.655C>T p.L219F Missense 7/12 - 1
14-73659458-CT-TG c.655_656delinsTG p.L219C Missense 7/12 - 1
14-73659459-T-C c.656T>C p.L219P Missense 7/12 - 5
14-73659459-T-G c.656T>G p.L219R Missense 7/12 - 1
14-73659461-C-G c.658C>G p.R220G Missense 7/12 - 3
14-73659461-CGA-TGT c.658_660delinsTGT p.R220C Missense 7/12 - 1
14-73659461-C-T c.658C>T p.R220* Nonsense 7/12 - 1
14-73659462-G-C c.659G>C p.R220P Missense 7/12 - 1
14-73659464-CT-AC c.661_662delinsAC p.L221T Missense 7/12 - 2
14-73659468-A-C c.665A>C p.Q222P Missense 7/12 - 1
14-73659468-A-G c.665A>G p.Q222R Missense 7/12 - 1
14-73659468-A-T c.665A>T p.Q222L Missense 7/12 - 1
14-73659469-G-C c.666G>C p.Q222H Missense 7/12 - 7
14-73659469-G-T c.666G>T p.Q222H Missense 7/12 - 5
14-73659470-C-A c.667C>A p.Q223K Missense 7/12 - 2
14-73659471-A-G c.668A>G p.Q223R Missense 7/12 - 7
14-73659473-GGCATATCTCATT-G c.670_681del p.A224_I227del InFrameDeletion 7/12 - 1
14-73659474-C-T c.671C>T p.A224V Missense 7/12 - 2
14-73659479-C-T c.676C>T p.L226F Missense 7/12 - 16
14-73659479-CT-TG c.676_677delinsTG p.L226C Missense 7/12 - 1
14-73659480-T-A c.677T>A p.L226H Missense 7/12 - 1
14-73659480-T-G c.677T>G p.L226R Missense 7/12 - 14
14-73659482-A-C c.679A>C p.I227L Missense 7/12 - 1
14-73659482-A-G c.679A>G p.I227V Missense 7/12 - 1
14-73659488-A-T c.685A>T p.I229F Missense 7/12 - 7
14-73659491-AG-GA c.688_689delinsGA p.S230D Missense 7/12 - 1
14-73659491-AG-GC c.688_689delinsGC p.S230A Missense 7/12 - 2
14-73659491-A-T c.688A>T p.S230C Missense 7/12 - 2
14-73659492-G-A c.689G>A p.S230N Missense 7/12 - 3
14-73659492-G-T c.689G>T p.S230I Missense 7/12 - 2
14-73659491-A-C c.688A>C p.S230R Missense 7/12 - 3
14-73659493-T-A c.690T>A p.S230R Missense 7/12 - 3
14-73659493-T-G c.690T>G p.S230R Missense 7/12 - 3
14-73659494-G-A c.691G>A p.A231T Missense 7/12 - 4
14-73659494-G-C c.691G>C p.A231P Missense 7/12 - 1
14-73659495-C-T c.692C>T p.A231V Missense 7/12 - 9
14-73659498-T-C c.695T>C p.L232P Missense 7/12 - 5
14-73659500-A-C c.697A>C p.M233L Missense 7/12 - 17
14-73659500-A-G c.697A>G p.M233V Missense 7/12 - 17
14-73659500-A-T c.697A>T p.M233L Missense 7/12 - 10
14-73659500-ATG-TGT c.697_699delinsTGT p.M233C Missense 7/12 - 1
14-73659501-T-C c.698T>C p.M233T Missense 7/12 - 71
14-73659502-G-A c.699G>A p.M233I Missense 7/12 - 4
14-73659502-G-C c.699G>C p.M233I Missense 7/12 - 7
14-73659502-G-T c.699G>T p.M233I Missense 7/12 - 4
14-73659505-C-A c.702C>A p.A234= Synonymous 7/12 - 1
14-73659506-C-G c.703C>G p.L235V Missense 7/12 - 23
14-73659506-CT-AC c.703_704delinsAC p.L235T Missense 7/12 - 1
14-73659507-T-C c.704T>C p.L235P Missense 7/12 - 38
14-73659507-T-G c.704T>G p.L235R Missense 7/12 - 7
14-73659509-GTG-TGT c.706_708delinsTGT p.V236C Missense 7/12 - 3
14-73659509-GT-TC c.706_707delinsTC p.V236S Missense 7/12 - 2
14-73659510-T-A c.707T>A p.V236E Missense 7/12 - 8
14-73659512-T-A c.709T>A p.F237I Missense 7/12 - 10
14-73659512-T-C c.709T>C p.F237L Missense 7/12 - 1
14-73659512-T-G c.709T>G p.F237V Missense 7/12 - 1
14-73659514-T-A c.711T>A p.F237L Missense 7/12 - 3
14-73659514-T-G c.711T>G p.F237L Missense 7/12 - 1
14-73659513-T-G c.710T>G p.F237C Missense 7/12 - 1
14-73659515-AT-TG c.712_713delinsTG p.I238C Missense 7/12 - 1
14-73659517-C-G c.714C>G p.I238M Missense 7/12 - 11
14-73659518-AAG-TGT c.715_717delinsTGT p.K239C Missense 7/12 - 1
14-73659518-A-G c.715A>G p.K239E Missense 7/12 - 2
14-73659520-G-C c.717G>C p.K239N Missense 7/12 - 6
14-73659520-G-T c.717G>T p.K239N Missense 7/12 - 6
14-73659522-A-G c.719A>G p.Y240C Missense 7/12 - 2
14-73659524-C-A c.721C>A p.L241I Missense 7/12 - 1
14-73659524-CT-TG c.721_722delinsTG p.L241C Missense 7/12 - 1
14-73659525-T-G c.722T>G p.L241R Missense 7/12 - 1
14-73659525-TC-T c.725del p.P242Lfs*11 Frameshift 7/12 - 8
14-73659528-C-A c.725C>A p.P242H Missense 7/12 - 1
14-73659536-A-C c.733A>C p.T245P Missense 7/12 - 8
14-73659536-AC-TG c.733_734delinsTG p.T245C Missense 7/12 - 2
14-73659538-T-C c.735T>C p.T245= Synonymous 7/12 - 1
14-73659539-G-C c.736G>C p.A246P Missense 7/12 - 1
14-73659539-GC-CA c.736_737delinsCA p.A246Q Missense 7/12 - 4
14-73659539-GCG-TGT c.736_738delinsTGT p.A246C Missense 7/12 - 3
14-73659540-C-A c.737C>A p.A246E Missense 7/12 - 242
14-73659540-C-G c.737C>G p.A246G Missense 7/12 - 1
14-73659544-G-C c.741G>C p.W247C Missense 7/12 - 2
14-73659544-G-T c.741G>T p.W247C Missense 7/12 - 2
14-73659545-CTC-GAG c.742_744inv p.L248E Missense 7/12 - 1
14-73659546-T-C c.743T>C p.L248P Missense 7/12 - 7
14-73659546-T-G c.743T>G p.L248R Missense 7/12 - 6
14-73659548-A-C c.745A>C p.I249L Missense 7/12 - 2
14-73659551-T-G c.748T>G p.L250V Missense 7/12 - 6
14-73659552-T-C c.749T>C p.L250S Missense 7/12 - 11
14-73659552-TG-GT c.749_750delinsGT p.L250C Missense 7/12 - 6
14-73659554-G-A c.751G>A p.A251T Missense 7/12 - 1
14-73659557-GTG-TGT c.754_756delinsTGT p.V252C Missense 7/12 - 1
14-73659560-A-G c.757A>G p.I253V Missense 7/12 - 1
14-73659560-ATT-A c.759_760del p.V255Ifs*2 Frameshift 7/12 - 1
14-73659564-CA-GT c.761_762delinsGT p.S254C Missense 7/12 - 1
14-73659566-GTA-TGT c.763_765delinsTGT p.V255C Missense 7/12 - 1
14-73659568-A-C c.765A>C p.V255= Synonymous 7/12 - 1
14-73659568-A-G c.765A>G p.V255= Synonymous 7/12 - 1
14-73659568-A-T c.765A>T p.V255= Synonymous 7/12 - 1
14-73659569-T-A c.766T>A p.Y256N Missense 7/12 - 3
14-73659570-A-C c.767A>C p.Y256S Missense 7/12 - 13
14-73659570-A-T c.767A>T p.Y256F Missense 7/12 - 1
14-73659572-G-A c.769G>A p.D257N Missense 7/12 - 2
14-73662629-C-T c.770-2110C>T - IntronicSNV - 7/11 3
14-73664718-T-C c.770-21T>C - IntronicSNV - 7/11 1
14-73664739-A-C c.770A>C p.D257A Missense 8/12 - 77
14-73664741-T-C c.772T>C p.L258= Synonymous 8/12 - 1
14-73664742-TA-GT c.773_774delinsGT p.L258C Missense 8/12 - 1
14-73664744-GTG-TGT c.775_777delinsTGT p.V259C Missense 8/12 - 1
14-73664747-GC-TG c.778_779delinsTG p.A260C Missense 8/12 - 3
14-73664748-C-G c.779C>G p.A260G Missense 8/12 - 4
14-73664748-C-T c.779C>T p.A260V Missense 8/12 - 21
14-73664750-G-A c.781G>A p.V261I Missense 8/12 - 9
14-73664750-G-C c.781G>C p.V261L Missense 8/12 - 6
14-73664750-G-T c.781G>T p.V261F Missense 8/12 - 17
14-73664750-GT-CG c.781_782delinsCG p.V261R Missense 8/12 - 1
14-73664750-GT-TG c.781_782delinsTG p.V261C Missense 8/12 - 2
14-73664751-T-C c.782T>C p.V261A Missense 8/12 - 1
14-73664753-T-G c.784T>G p.L262V Missense 8/12 - 2
14-73664754-TG-GT c.785_786delinsGT p.L262C Missense 8/12 - 1
14-73664755-G-C c.786G>C p.L262F Missense 8/12 - 8
14-73664755-G-T c.786G>T p.L262F Missense 8/12 - 8
14-73664756-T-C c.787T>C p.C263R Missense 8/12 - 4
14-73664757-G-T c.788G>T p.C263F Missense 8/12 - 8
14-73664758-T-G c.789T>G p.C263W Missense 8/12 - 1
14-73664759-CC-GT c.790_791delinsGT p.P264V Missense 8/12 - 1
14-73664759-CCG-TGT c.790_792delinsTGT p.P264C Missense 8/12 - 2
14-73664760-C-T c.791C>T p.P264L Missense 8/12 - 92
14-73664765-G-A c.796G>A p.G266S Missense 8/12 - 8
14-73664765-G-T c.796G>T p.G266C Missense 8/12 - 1
14-73664768-C-A c.799C>A p.P267T Missense 8/12 - 1
14-73664768-C-G c.799C>G p.P267A Missense 8/12 - 2
14-73664768-C-T c.799C>T p.P267S Missense 8/12 - 7
14-73664769-C-T c.800C>T p.P267L Missense 8/12 - 4
14-73664771-CT-TG c.802_803delinsTG p.L268C Missense 8/12 - 1
14-73664772-T-C c.803T>C p.L268P Missense 8/12 - 2
14-73664774-C-G c.805C>G p.R269G Missense 8/12 - 6
14-73664774-C-T c.805C>T p.R269C Missense 8/12 - 1
14-73664775-G-A c.806G>A p.R269H Missense 8/12 - 22
14-73664777-A-C c.808A>C p.M270L Missense 8/12 - 2
14-73664777-A-T c.808A>T p.M270L Missense 8/12 - 2
14-73664778-ATG-A c.809_810del p.M270Tfs*3 Frameshift 8/12 - 1
14-73664780-C-G c.811C>G p.L271V Missense 8/12 - 18
14-73664780-C-T c.811C>T p.L271= Synonymous 8/12 - 1
14-73664784-T-A c.815T>A p.V272D Missense 8/12 - 1
14-73664784-T-C c.815T>C p.V272A Missense 8/12 - 8
14-73664786-GA-TC c.817_818inv p.E273S Missense 8/12 - 1
14-73664787-A-C c.818A>C p.E273A Missense 8/12 - 12
14-73664787-A-G c.818A>G p.E273G Missense 8/12 - 1
14-73664790-C-G c.821C>G p.T274R Missense 8/12 - 3
14-73664793-C-T c.824C>T p.A275V Missense 8/12 - 2
14-73664797-G-T c.828G>T p.Q276H Missense 8/12 - 1
14-73664802-G-A c.833G>A p.R278K Missense 8/12 - 4
14-73664802-G-C c.833G>C p.R278T Missense 8/12 - 10
14-73664802-G-T c.833G>T p.R278I Missense 8/12 - 40
14-73664803-A-C c.834A>C p.R278S Missense 8/12 - 3
14-73664803-A-T c.834A>T p.R278S Missense 8/12 - 3
14-73664804-A-G c.835A>G p.N279D Missense 8/12 - 1
14-73664806-T-A c.837T>A p.N279K Missense 8/12 - 29
14-73664806-T-G c.837T>G p.N279K Missense 8/12 - 29
14-73664807-G-A c.838G>A p.E280K Missense 8/12 - 5
14-73664807-G-C c.838G>C p.E280Q Missense 8/12 - 1
14-73664808-A-C c.839A>C p.E280A Missense 8/12 - 292
14-73664808-A-G c.839A>G p.E280G Missense 8/12 - 27
14-73664813-C-G c.844C>G p.L282V Missense 8/12 - 15
14-73664813-C-T c.844C>T p.L282F Missense 8/12 - 5
14-73664814-T-C c.845T>C p.L282P Missense 8/12 - 1
14-73664814-T-G c.845T>G p.L282R Missense 8/12 - 8
14-73664816-T-C c.847T>C p.F283L Missense 8/12 - 3
14-73664818-T-A c.849T>A p.F283L Missense 8/12 - 3
14-73664818-T-G c.849T>G p.F283L Missense 8/12 - 3
14-73664819-C-T c.850C>T p.P284S Missense 8/12 - 3
14-73664820-CA-AT c.851_852delinsAT p.P284H Missense 8/12 - 1
14-73664820-C-T c.851C>T p.P284L Missense 8/12 - 10
14-73664823-C-T c.854C>T p.A285V Missense 8/12 - 13
14-73664825-C-A c.856C>A p.L286I Missense 8/12 - 1
14-73664825-C-G c.856C>G p.L286V Missense 8/12 - 461
14-73664825-C-T c.856C>T p.L286F Missense 8/12 - 1
14-73664825-CT-AG c.856_857inv p.L286S Missense 8/12 - 1
14-73664825-CTC-GAG c.856_858inv p.L286E Missense 8/12 - 1
14-73664825-CTC-TGG c.856_858delinsTGG p.L286W Missense 8/12 - 1
14-73664826-T-C c.857T>C p.L286P Missense 8/12 - 12
14-73664826-TC-AA c.857_858delinsAA p.L286Q Missense 8/12 - 1
14-73664826-T-G c.857T>G p.L286R Missense 8/12 - 2
14-73664831-T-A c.862T>A p.Y288N Missense 8/12 - 1
14-73664831-T-C c.862T>C p.Y288H Missense 8/12 - 3
14-73664832-A-T c.863A>T p.Y288F Missense 8/12 - 1
14-73664853-G-A c.868+16G>A - IntronicSNV - 8/11 15
14-73664853-G-T c.868+16G>T - IntronicSNV - 8/11 15
14-73672831-C-A c.869-263C>A - IntronicSNV - 8/11 2
14-73673094-CA-GG c.869_870delinsGG p.S290W Missense 9/12 - 1
14-73673094-CA-GT c.869_870delinsGT p.S290C Missense 9/12 - 15
14-73673094-GCAACAATGGTGTGGTTGGTGAATATGGCAGAAGGAGACCCGGAAGCTCAAAGGAGAGTA-G c.869_927del p.S290Ffs*7 Unclassified 9/12 - 2
14-73673096-A-C c.871A>C p.T291P Missense 9/12 - 7
14-73673096-A-G c.871A>G p.T291A Missense 9/12 - 7
14-73673096-A-AC c.872dup p.M292Nfs*25 Frameshift 9/12 - 1
14-73673097-C-T c.872C>T p.T291I Missense 9/12 - 1
14-73673099-AT-GA c.874_875delinsGA p.M292E Missense 9/12 - 2
14-73673099-ATG-GAC c.874_876delinsGAC p.M292D Missense 9/12 - 11
14-73673103-TG-AC c.878_879delinsAC p.V293D Missense 9/12 - 1
14-73673106-G-A c.881G>A p.W294* Nonsense 9/12 - 1
14-73673108-TTG-GAC c.883_885delinsGAC p.L295D Missense 9/12 - 1
14-73673111-G-GT c.887dup p.N297Efs*20 Frameshift 9/12 - 1
14-73673112-TG-AC c.887_888delinsAC p.V296D Missense 9/12 - 1
14-73673114-AA-GG c.889_890delinsGG p.N297G Missense 9/12 - 1
14-73673114-A-G c.889A>G p.N297D Missense 9/12 - 1
14-73673115-A-G c.890A>G p.N297S Missense 9/12 - 1
14-73673116-T-A c.891T>A p.N297K Missense 9/12 - 1
14-73673116-T-G c.891T>G p.N297K Missense 9/12 - 1
14-73673117-ATG-GAC c.892_894delinsGAC p.M298D Missense 9/12 - 1
14-73673120-G-A c.895G>A p.A299T Missense 9/12 - 1
14-73673121-CA-AC c.896_897delinsAC p.A299D Missense 9/12 - 1
14-73673125-A-C c.900A>C p.E300D Missense 9/12 - 1
14-73673125-A-T c.900A>T p.E300D Missense 9/12 - 1
14-73673130-A-C c.905A>C p.D302A Missense 9/12 - 1
14-73673133-C-T c.908C>T p.P303L Missense 9/12 - 1
14-73673150-GTA-ATG c.925_927delinsATG p.V309M Missense 9/12 - 1
14-73673153-TC-GA c.928_929inv p.S310D Missense 9/12 - 1
14-73673153-T-G c.928T>G p.S310A Missense 9/12 - 1
14-73673154-C-CTT c.929_930insTT p.K311Sfs*39 Frameshift 9/12 - 1
14-73673157-A-G c.932A>G p.K311R Missense 9/12 - 4
14-73673162-TC-GA c.937_938inv p.S313D Missense 9/12 - 1
14-73673162-T-G c.937T>G p.S313A Missense 9/12 - 1
14-73673169-A-G c.944A>G p.Y315C Missense 9/12 - 1
14-73673177-G-A c.952G>A p.E318K Missense 9/12 - 1
14-73673178-A-G c.953A>G p.E318G Missense 9/12 - 67
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.S324A Missense 10/12 - 1
14-73678500-A-AC c.980dup p.V328Cfs*5 Frameshift 10/12 - 1
14-73678503-TG-T c.982del p.V328Lfs*21 Frameshift 10/12 - 1
14-73678516-A-G c.995A>G p.D332G Missense 10/12 - 1
14-73678519-A-G c.998A>G p.D333G Missense 10/12 - 8
14-73678521-G-A c.1000G>A p.G334S Missense 10/12 - 1
14-73678522-G-T c.1001G>T p.G334V Missense 10/12 - 1
14-73678525-GG-AC c.1004_1005delinsAC p.G335D Missense 10/12 - 1
14-73678530-AG-GC c.1009_1010delinsGC p.S337A Missense 10/12 - 1
14-73678536-GAA-TAT c.1015_1017delinsTAT p.E339Y Missense 10/12 - 1
14-73678537-A-C c.1016A>C p.E339A Missense 10/12 - 1
14-73678540-G-A c.1019G>A p.W340* Nonsense 10/12 - 1
14-73678540-G-C c.1019G>C p.W340S Missense 10/12 - 1
14-73678553-G-C c.1032G>C p.R344S Missense 10/12 - 1
14-73678553-G-T c.1032G>T p.R344S Missense 10/12 - 1
14-73678555-A-G c.1034A>G p.D345G Missense 10/12 - 1
14-73678557-AG-GC c.1036_1037delinsGC p.S346A Missense 10/12 - 1
14-73678558-G-T c.1037G>T p.S346I Missense 10/12 - 1
14-73678570-C-T c.1049C>T p.P350L Missense 10/12 - 1
14-73678572-CA-TG c.1051_1052inv p.H351C Missense 10/12 - 2
14-73678575-C-T c.1054C>T p.R352C Missense 10/12 - 5
14-73678576-G-A c.1055G>A p.R352H Missense 10/12 - 2
14-73678578-T-G c.1057T>G p.S353A Missense 10/12 - 1
14-73678581-A-G c.1060A>G p.T354A Missense 10/12 - 1
14-73678582-C-T c.1061C>T p.T354I Missense 10/12 - 8
14-73678584-C-T c.1063C>T p.P355S Missense 10/12 - 4
14-73678590-T-G c.1069T>G p.S357A Missense 10/12 - 1
14-73678591-C-G c.1070C>G p.S357* Nonsense 10/12 - 1
14-73678594-G-A c.1073G>A p.R358Q Missense 10/12 - 2
14-73678599-G-A c.1078G>A p.A360T Missense 10/12 - 1
14-73678602-G-A c.1081G>A p.V361I Missense 10/12 - 1
14-73678606-A-C c.1085A>C p.Q362P Missense 10/12 - 1
14-73678608-G-C c.1087G>C p.E363Q Missense 10/12 - 1
14-73678614-TC-GA c.1093_1094inv p.S365D Missense 10/12 - 1
14-73678614-T-G c.1093T>G p.S365A Missense 10/12 - 6
14-73678615-C-A c.1094C>A p.S365Y Missense 10/12 - 3
14-73678617-AG-GA c.1096_1097delinsGA p.S366D Missense 10/12 - 1
14-73678617-AG-GC c.1096_1097delinsGC p.S366A Missense 10/12 - 2
14-73678620-AG-GA c.1099_1100delinsGA p.S367D Missense 10/12 - 4
14-73678620-AG-GC c.1099_1100delinsGC p.S367A Missense 10/12 - 6
14-73678624-T-A c.1103T>A p.I368N Missense 10/12 - 1
14-73678629-GCT-TGG c.1108_1110delinsTGG p.A370W Missense 10/12 - 1
14-73678636-A-G c.1115A>G p.E372G Missense 10/12 - 1
14-73678647-GAA-TGT c.1126_1128delinsTGT p.E376C Missense 10/12 - 1
14-73678649-A-AC c.1128_1129insC p.R377Qfs*19 SpliceDonorInsertion 10/12 - 1
14-73678649-A-AG c.1128_1129insG p.R377Efs*19 SpliceDonorInsertion 10/12 - 1
14-73678649-A-AT c.1128_1129insT p.R377* SpliceDonorInsertion 10/12 - 1
14-73678647-G-GA c.1129dup p.R377Kfs*19 SpliceDonorInsertion - - 1
14-73678650-A-G c.1129A>G p.R377G Missense 10/12 - 1
14-73678650-A-T c.1129A>T p.R377W Missense 10/12 - 7
14-73679189-GT-G c.1129+546del - IntronicDeletion - 10/11 1
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-C c.1130G>C p.R377T Missense 11/12 - 1
14-73683834-G-T c.1130G>T p.R377M Missense 11/12 - 4
14-73683835-G-T c.1131G>T p.R377S Missense 11/12 - 1
14-73683836-G-A c.1132G>A p.G378R Missense 11/12 - 1
14-73683836-G-C c.1132G>C p.G378R Missense 11/12 - 1
14-73683836-GGA-TGT c.1132_1134delinsTGT p.G378C Missense 11/12 - 1
14-73683837-G-A c.1133G>A p.G378E Missense 11/12 - 10
14-73683837-G-C c.1133G>C p.G378A Missense 11/12 - 1
14-73683837-G-T c.1133G>T p.G378V Missense 11/12 - 6
14-73683839-GTA-TGT c.1135_1137delinsTGT p.V379C Missense 11/12 - 1
14-73683842-AAA-TGT c.1138_1140delinsTGT p.K380C Missense 11/12 - 1
14-73683843-A-C c.1139A>C p.K380T Missense 11/12 - 1
14-73683843-A-G c.1139A>G p.K380R Missense 11/12 - 1
14-73683845-C-G c.1141C>G p.L381V Missense 11/12 - 13
14-73683845-C-T c.1141C>T p.L381F Missense 11/12 - 6
14-73683845-CT-GC c.1141_1142delinsGC p.L381A Missense 11/12 - 1
14-73683845-CT-TG c.1141_1142delinsTG p.L381C Missense 11/12 - 4
14-73683848-GGA-TGT c.1144_1146delinsTGT p.G382C Missense 11/12 - 2
14-73683849-G-C c.1145G>C p.G382A Missense 11/12 - 3
14-73683851-TTG-AAC c.1147_1149delinsAAC p.L383N Missense 11/12 - 1
14-73683852-T-G c.1148T>G p.L383W Missense 11/12 - 3
14-73683852-TG-GT c.1148_1149delinsGT p.L383C Missense 11/12 - 8
14-73683853-G-C c.1149G>C p.L383F Missense 11/12 - 2
14-73683853-G-T c.1149G>T p.L383F Missense 11/12 - 2
14-73683854-G-A c.1150G>A p.G384R Missense 11/12 - 1
14-73683854-G-C c.1150G>C p.G384R Missense 11/12 - 1
14-73683854-GG-AT c.1150_1151delinsAT p.G384I Missense 11/12 - 1
14-73683854-GGA-TGG c.1150_1152delinsTGG p.G384W Missense 11/12 - 1
14-73683854-GGA-TGT c.1150_1152delinsTGT p.G384C Missense 11/12 - 2
14-73683854-GG-CC c.1150_1151inv p.G384P Missense 11/12 - 1
14-73683855-G-C c.1151G>C p.G384A Missense 11/12 - 91
14-73683856-GA-G c.1152del p.D385Ifs*24 Frameshift 11/12 - 1
14-73683857-G-A c.1153G>A p.D385N Missense 11/12 - 19
14-73683857-GA-AC c.1153_1154delinsAC p.D385T Missense 11/12 - 1
14-73683857-GA-AG c.1153_1154delinsAG p.D385S Missense 11/12 - 1
14-73683857-GA-TG c.1153_1154delinsTG p.D385C Missense 11/12 - 4
14-73683858-A-C c.1154A>C p.D385A Missense 11/12 - 76
14-73683859-T-A c.1155T>A p.D385E Missense 11/12 - 2
14-73683859-T-G c.1155T>G p.D385E Missense 11/12 - 2
14-73683860-T-A c.1156T>A p.F386I Missense 11/12 - 3
14-73683860-T-C c.1156T>C p.F386L Missense 11/12 - 1
14-73683862-C-A c.1158C>A p.F386L Missense 11/12 - 2
14-73683862-C-G c.1158C>G p.F386L Missense 11/12 - 1
14-73683861-T-C c.1157T>C p.F386S Missense 11/12 - 7
14-73683863-AT-TG c.1159_1160delinsTG p.I387C Missense 11/12 - 7
14-73683867-T-C c.1163T>C p.F388S Missense 11/12 - 1
14-73683867-T-G c.1163T>G p.F388C Missense 11/12 - 1
14-73683868-C-G c.1164C>G p.F388L Missense 11/12 - 1
14-73683869-T-C c.1165T>C p.Y389H Missense 11/12 - 1
14-73683870-A-C c.1166A>C p.Y389S Missense 11/12 - 1
14-73683870-A-G c.1166A>G p.Y389C Missense 11/12 - 1
14-73683870-A-T c.1166A>T p.Y389F Missense 11/12 - 1
14-73683871-C-CGA c.1167_1168insGA p.S390Efs*20 Frameshift 11/12 - 2
14-73683872-A-T c.1168A>T p.S390C Missense 11/12 - 1
14-73683873-G-A c.1169G>A p.S390N Missense 11/12 - 1
14-73683873-G-T c.1169G>T p.S390I Missense 11/12 - 5
14-73683875-G-T c.1171G>T p.V391F Missense 11/12 - 3
14-73683876-T-G c.1172T>G p.V391G Missense 11/12 - 2
14-73683878-C-G c.1174C>G p.L392V Missense 11/12 - 34
14-73683878-CTG-TGT c.1174_1176delinsTGT p.L392C Missense 11/12 - 1
14-73683879-T-C c.1175T>C p.L392P Missense 11/12 - 3
14-73683881-G-T c.1177G>T p.V393F Missense 11/12 - 1
14-73683882-T-C c.1178T>C p.V393A Missense 11/12 - 1
14-73683884-G-T c.1180G>T p.G394C Missense 11/12 - 2
14-73683885-G-T c.1181G>T p.G394V Missense 11/12 - 3
14-73683887-AAA-TGT c.1183_1185delinsTGT p.K395C Missense 11/12 - 1
14-73683890-G-A c.1186G>A p.A396T Missense 11/12 - 6
14-73683896-GCA-TGT c.1192_1194delinsTGT p.A398C Missense 11/12 - 2
14-73683898-A-G c.1194A>G p.A398= Synonymous 11/12 - 1
14-73683899-ACA-TGT c.1195_1197inv p.T399C Missense 11/12 - 1
14-73683908-GGA-TGT c.1204_1206delinsTGT p.G402C Missense 11/12 - 1
14-73683911-GA-TG c.1207_1208delinsTG p.D403C Missense 11/12 - 1
14-73683916-G-C c.1212G>C p.W404C Missense 11/12 - 1
14-73683916-G-T c.1212G>T p.W404C Missense 11/12 - 1
14-73683917-AAC-CAA c.1213_1215delinsCAA p.N405Q Missense 11/12 - 1
14-73683918-A-G c.1214A>G p.N405S Missense 11/12 - 9
14-73683926-CATA-C c.1222_1224del p.I408del InFrameDeletion 11/12 - 1
14-73683929-G-A c.1225G>A p.A409T Missense 11/12 - 7
14-73683929-G-C c.1225G>C p.A409P Missense 11/12 - 1
14-73683929-GC-CT c.1225_1226delinsCT p.A409L Missense 11/12 - 1
14-73683931-C-G c.1227C>G p.A409= Synonymous 11/12 - 1
14-73683932-T-A c.1228T>A p.C410S Missense 11/12 - 1
14-73683933-G-C c.1229G>C p.C410S Missense 11/12 - 1
14-73683933-G-A c.1229G>A p.C410Y Missense 11/12 - 54
14-73683933-G-T c.1229G>T p.C410F Missense 11/12 - 1
14-73683936-T-A c.1232T>A p.F411Y Missense 11/12 - 3
14-73683938-G-A c.1234G>A p.V412I Missense 11/12 - 4
14-73683941-GC-CT c.1237_1238delinsCT p.A413L Missense 11/12 - 1
14-73683942-CC-AG c.1238_1239delinsAG p.A413E Missense 11/12 - 1
14-73683944-A-G c.1240A>G p.I414V Missense 11/12 - 1
14-73683950-AAT-A c.1246_1247del p.I416Wfs*76 SpliceDonorDeletion 11/12 - 1
14-73683951-T-C c.1247T>C p.I416T Missense 11/12 - 6
14-73685842-G-A c.1249G>A p.G417S Missense 12/12 - 3
14-73685842-G-T c.1249G>T p.G417C Missense 12/12 - 1
14-73685843-G-C c.1250G>C p.G417A Missense 12/12 - 5
14-73685846-T-G c.1253T>G p.L418W Missense 12/12 - 1
14-73685847-G-C c.1254G>C p.L418F Missense 12/12 - 2
14-73685847-G-T c.1254G>T p.L418F Missense 12/12 - 1
14-73685848-T-A c.1255T>A p.C419S Missense 12/12 - 1
14-73685849-G-C c.1256G>C p.C419S Missense 12/12 - 1
14-73685850-C-T c.1257C>T p.C419= Synonymous 12/12 - 1
14-73685851-C-T c.1258C>T p.L420F Missense 12/12 - 1
14-73685852-T-G c.1259T>G p.L420R Missense 12/12 - 11
14-73685855-CA-TG c.1262_1263inv p.T421M Missense 12/12 - 1
14-73685855-C-T c.1262C>T p.T421I Missense 12/12 - 2
14-73685861-T-C c.1268T>C p.L423S Missense 12/12 - 1
14-73685863-C-G c.1270C>G p.L424V Missense 12/12 - 7
14-73685863-C-T c.1270C>T p.L424F Missense 12/12 - 2
14-73685864-T-A c.1271T>A p.L424H Missense 12/12 - 5
14-73685864-T-C c.1271T>C p.L424P Missense 12/12 - 1
14-73685864-T-G c.1271T>G p.L424R Missense 12/12 - 6
14-73685866-CT-TG c.1273_1274delinsTG p.L425C Missense 12/12 - 1
14-73685869-G-C c.1276G>C p.A426P Missense 12/12 - 11
14-73685870-CC-AG c.1277_1278delinsAG p.A426E Missense 12/12 - 2
14-73685872-A-G c.1279A>G p.I427V Missense 12/12 - 1
14-73685878-AAG-TGT c.1285_1287delinsTGT p.K429C Missense 12/12 - 1
14-73685880-AG-A c.1287del p.A431Hfs*30 Frameshift 12/12 - 1
14-73685881-AA-GC c.1288_1289delinsGC p.K430A Missense 12/12 - 1
14-73685885-C-A c.1292C>A p.A431E Missense 12/12 - 59
14-73685885-CA-AC c.1292_1293delinsAC p.A431D Missense 12/12 - 2
14-73685885-C-T c.1292C>T p.A431V Missense 12/12 - 5
14-73685888-TG-GT c.1295_1296delinsGT p.L432C Missense 12/12 - 1
14-73685890-CCA-TGT c.1297_1299delinsTGT p.P433C Missense 12/12 - 2
14-73685890-C-G c.1297C>G p.P433A Missense 12/12 - 2
14-73685890-C-T c.1297C>T p.P433S Missense 12/12 - 4
14-73685891-C-T c.1298C>T p.P433L Missense 12/12 - 6
14-73685893-G-A c.1300G>A p.A434T Missense 12/12 - 12
14-73685893-GC-TG c.1300_1301delinsTG p.A434C Missense 12/12 - 9
14-73685894-C-A c.1301C>A p.A434D Missense 12/12 - 2
14-73685896-C-G c.1303C>G p.L435V Missense 12/12 - 1
14-73685896-C-T c.1303C>T p.L435F Missense 12/12 - 45
14-73685896-CT-TG c.1303_1304delinsTG p.L435C Missense 12/12 - 7
14-73685897-T-A c.1304T>A p.L435H Missense 12/12 - 2
14-73685897-T-G c.1304T>G p.L435R Missense 12/12 - 2
14-73685899-C-A c.1306C>A p.P436T Missense 12/12 - 1
14-73685899-CC-AT c.1306_1307delinsAT p.P436I Missense 12/12 - 1
14-73685899-CCA-TGT c.1306_1308delinsTGT p.P436C Missense 12/12 - 2
14-73685899-CC-GG c.1306_1307inv p.P436G Missense 12/12 - 1
14-73685899-C-T c.1306C>T p.P436S Missense 12/12 - 5
14-73685900-C-A c.1307C>A p.P436Q Missense 12/12 - 15
14-73685900-C-T c.1307C>T p.P436L Missense 12/12 - 2
14-73685902-A-G c.1309A>G p.I437V Missense 12/12 - 2
14-73685902-AT-TG c.1309_1310delinsTG p.I437C Missense 12/12 - 2
14-73685904-C-G c.1311C>G p.I437M Missense 12/12 - 1
14-73685905-T-C c.1312T>C p.S438P Missense 12/12 - 3
14-73685906-C-G c.1313C>G p.S438C Missense 12/12 - 2
14-73685908-A-G c.1315A>G p.I439V Missense 12/12 - 4
14-73685908-AT-TG c.1315_1316delinsTG p.I439C Missense 12/12 - 2
14-73685909-T-G c.1316T>G p.I439S Missense 12/12 - 4
14-73685909-TCAC-T c.1318_1320del p.T440del InFrameDeletion 12/12 - 3
14-73685911-AC-TG c.1318_1319delinsTG p.T440C Missense 12/12 - 2
14-73685914-T-C c.1321T>C p.F441L Missense 12/12 - 1
14-73685916-T-A c.1323T>A p.F441L Missense 12/12 - 1
14-73685916-T-G c.1323T>G p.F441L Missense 12/12 - 1
14-73685915-T-G c.1322T>G p.F441C Missense 12/12 - 1
14-73685917-G-A c.1324G>A p.G442R Missense 12/12 - 1
14-73685917-G-C c.1324G>C p.G442R Missense 12/12 - 1
14-73685917-GG-AC c.1324_1325delinsAC p.G442T Missense 12/12 - 1
14-73685917-GGG-TGT c.1324_1326delinsTGT p.G442C Missense 12/12 - 2
14-73685920-C-G c.1327C>G p.L443V Missense 12/12 - 1
14-73685920-CT-TG c.1327_1328delinsTG p.L443C Missense 12/12 - 2
14-73685923-GT-TG c.1330_1331delinsTG p.V444C Missense 12/12 - 2
14-73685927-T-G c.1334T>G p.F445C Missense 12/12 - 1
14-73685929-T-C c.1336T>C p.Y446H Missense 12/12 - 1
14-73685930-A-G c.1337A>G p.Y446C Missense 12/12 - 3
14-73685933-T-G c.1340T>G p.F447C Missense 12/12 - 2
14-73685935-GC-TG c.1342_1343delinsTG p.A448C Missense 12/12 - 1
14-73685938-ACA-TGT c.1345_1347inv p.T449C Missense 12/12 - 2
14-73685941-GA-TG c.1348_1349delinsTG p.D450C Missense 12/12 - 3
14-73685945-A-G c.1352A>G p.Y451C Missense 12/12 - 2
14-73685947-CT-TG c.1354_1355delinsTG p.L452C Missense 12/12 - 1
14-73685948-T-G c.1355T>G p.L452R Missense 12/12 - 1
14-73685953-CAG-TGT c.1360_1362delinsTGT p.Q454C Missense 12/12 - 2
14-73685956-CC-TG c.1363_1364delinsTG p.P455C Missense 12/12 - 1
14-73685960-T-G c.1367T>G p.F456C Missense 12/12 - 1
14-73685962-A-G c.1369A>G p.M457V Missense 12/12 - 1
14-73685965-G-A c.1372G>A p.D458N Missense 12/12 - 2
14-73685965-GA-TG c.1372_1373delinsTG p.D458C Missense 12/12 - 1
14-73685968-CAA-TGT c.1375_1377delinsTGT p.Q459C Missense 12/12 - 1
14-73685968-C-G c.1375C>G p.Q459E Missense 12/12 - 1
14-73685972-TA-GT c.1379_1380delinsGT p.L460C Missense 12/12 - 1
14-73685974-GCA-TGT c.1381_1383delinsTGT p.A461C Missense 12/12 - 1
14-73685978-T-G c.1385T>G p.F462C Missense 12/12 - 1
14-73685980-CA-TG c.1387_1388inv p.H463C Missense 12/12 - 1
14-73685983-CAA-TGT c.1390_1392delinsTGT p.Q464C Missense 12/12 - 1
14-73685986-TTT-GAG c.1393_1395delinsGAG p.F465E Missense 12/12 - 1
14-73685987-T-G c.1394T>G p.F465C Missense 12/12 - 1
14-73685988-T-A c.1395T>A p.F465L 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 - 4
14-73687144-C-T c.*1147C>T - 3-UTRSNV 12/12 - 3
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