ADAR

ADAR adenosine deaminase RNA specific

Annotation transcript: NM_001111.5

1826 unique variant annotations were identified in 1114 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
1-154554950-G-A c.*2332C>T - 3-UTRSNV 15/15 - 2
1-154554950-G-T c.*2332C>A - 3-UTRSNV 15/15 - 2
1-154554951-A-G c.*2331T>C - 3-UTRSNV 15/15 - 1
1-154554951-A-AGGGGCATG c.*2323_*2330dup - 3-UTRInsertion 15/15 - 3
1-154554951-A-AGGGGCATGGGGGCATG c.*2330_*2331insCATGCCCCCATGCCCC - 3-UTRInsertion 15/15 - 3
1-154555492-T-C c.*1790A>G - 3-UTRSNV 15/15 - 12
1-154555733-A-T c.*1549T>A - 3-UTRSNV 15/15 - 13
1-154556040-T-G c.*1242A>C - 3-UTRSNV 15/15 - 13
1-154556266-G-A c.*1016C>T - 3-UTRSNV 15/15 - 14
1-154556425-G-A c.*857C>T - 3-UTRSNV 15/15 - 16
1-154556663-G-A c.*619C>T - 3-UTRSNV 15/15 - 11
1-154556764-C-T c.*518G>A - 3-UTRSNV 15/15 - 1
1-154557171-G-A c.*111C>T - 3-UTRSNV 15/15 - 2
1-154557284-A-G c.3679T>C p.*1227Qext*21 Missense 15/15 - 1
1-154557289-G-A c.3674C>T p.P1225L Missense 15/15 - 1
1-154557291-G-T c.3672C>A p.C1224* Nonsense 15/15 - 1
1-154557296-G-C c.3667C>G p.L1223V Missense 15/15 - 2
1-154557305-T-C c.3658A>G p.N1220D Missense 15/15 - 1
1-154557306-C-A c.3657G>T p.K1219N Missense 15/15 - 3
1-154557306-C-G c.3657G>C p.K1219N Missense 15/15 - 1
1-154557308-T-TA c.3654_3655insT p.K1219* Nonsense 15/15 - 1
1-154557317-G-C c.3646C>G p.Q1216E Missense 15/15 - 1
1-154557320-G-A c.3643C>T p.P1215S Missense 15/15 - 1
1-154557329-T-A c.3634A>T p.I1212F Missense 15/15 - 1
1-154557330-C-A c.3633G>T p.W1211C Missense 15/15 - 1
1-154557330-C-G c.3633G>C p.W1211C Missense 15/15 - 1
1-154557335-T-C c.3628A>G p.N1210D Missense 15/15 - 1
1-154557336-C-A c.3627G>T p.G1209= Synonymous 15/15 - 1
1-154557340-T-C c.3623A>G p.Y1208C Missense 15/15 - 1
1-154557342-G-A c.3621C>T p.G1207= Synonymous 15/15 - 1
1-154557343-C-G c.3620G>C p.G1207A Missense 15/15 - 1
1-154557345-C-G c.3618G>C p.M1206I Missense 15/15 - 1
1-154557354-C-T c.3609G>A p.L1203= Synonymous 15/15 - 1
1-154557355-A-G c.3608T>C p.L1203P Missense 15/15 - 1
1-154557358-C-G c.3605G>C p.G1202A Missense 15/15 - 1
1-154557359-C-A c.3604G>T p.G1202C Missense 15/15 - 1
1-154557359-C-T c.3604G>A p.G1202S Missense 15/15 - 1
1-154557361-T-G c.3602A>C p.K1201T Missense 15/15 - 1
1-154557359-C-CT c.3603dup p.G1202Rfs*12 Frameshift 15/15 - 1
1-154557365-T-C c.3598A>G p.K1200E Missense 15/15 - 1
1-154557375-C-T c.3588G>A p.K1196= Synonymous 15/15 - 1
1-154557379-G-C c.3584C>G p.A1195G Missense 15/15 - 2
1-154557380-C-T c.3583G>A p.A1195T Missense 15/15 - 1
1-154557381-C-A c.3582G>T p.T1194= Synonymous 15/15 - 1
1-154557381-C-G c.3582G>C p.T1194= Synonymous 15/15 - 1
1-154557381-C-T c.3582G>A p.T1194= Synonymous 15/15 - 1
1-154557382-G-A c.3581C>T p.T1194M Missense 15/15 - 1
1-154557382-G-T c.3581C>A p.T1194K Missense 15/15 - 1
1-154557386-C-T c.3577G>A p.E1193K Missense 15/15 - 5
1-154557387-G-A c.3576C>T p.Y1192= Synonymous 15/15 - 4
1-154557394-C-T c.3569G>A p.R1190H Missense 15/15 - 1
1-154557395-G-A c.3568C>T p.R1190C Missense 15/15 - 4
1-154557399-AG-CT c.3563_3564inv p.A1188E Missense 15/15 - 1
1-154557400-G-C c.3563C>G p.A1188G Missense 15/15 - 1
1-154557400-G-T c.3563C>A p.A1188D Missense 15/15 - 1
1-154557406-T-C c.3557A>G p.K1186R Missense 15/15 - 1
1-154557407-T-C c.3556A>G p.K1186E Missense 15/15 - 1
1-154557407-T-G c.3556A>C p.K1186Q Missense 15/15 - 1
1-154557413-C-T c.3550G>A p.E1184K Missense 15/15 - 2
1-154557415-C-G c.3548G>C p.G1183A Missense 15/15 - 1
1-154557419-A-T c.3544T>A p.Y1182N Missense 15/15 - 1
1-154557420-G-A c.3543C>T p.S1181= Synonymous 15/15 - 3
1-154557420-G-C c.3543C>G p.S1181= Synonymous 15/15 - 1
1-154557420-G-T c.3543C>A p.S1181= Synonymous 15/15 - 1
1-154557429-C-A c.3534G>T p.L1178= Synonymous 15/15 - 1
1-154557429-C-G c.3534G>C p.L1178= Synonymous 15/15 - 1
1-154557429-C-T c.3534G>A p.L1178= Synonymous 15/15 - 2
1-154557431-G-A c.3532C>T p.L1178= Synonymous 15/15 - 1
1-154557439-C-A c.3524G>T p.R1175M Missense 15/15 - 1
1-154557440-T-G c.3523A>C p.R1175= Synonymous 15/15 - 1
1-154557442-C-T c.3521G>A p.R1174H Missense 15/15 - 1
1-154557448-C-T c.3515G>A p.R1172H Missense 15/15 - 1
1-154557449-G-A c.3514C>T p.R1172C Missense 15/15 - 5
1-154557454-G-C c.3509C>G p.S1170C Missense 15/15 - 1
1-154557455-A-G c.3508T>C p.S1170P Missense 15/15 - 1
1-154557456-G-T c.3507C>A p.C1169* Nonsense 15/15 - 1
1-154557460-A-G c.3503T>C p.L1168P Missense 15/15 - 1
1-154557464-T-G c.3499A>C p.K1167Q Missense 15/15 - 1
1-154557469-A-G c.3494T>C p.F1165S Missense 15/15 - 3
1-154557476-G-A c.3487C>T p.L1163F Missense 15/15 - 1
1-154557479-A-G c.3484T>C p.F1162L Missense 15/15 - 1
1-154557480-A-G c.3483T>C p.I1161= Synonymous 15/15 - 1
1-154557480-A-T c.3483T>A p.I1161= Synonymous 15/15 - 1
1-154557486-C-A c.3477G>T p.K1159N Missense 15/15 - 2
1-154557486-C-G c.3477G>C p.K1159N Missense 15/15 - 1
1-154557488-T-G c.3475A>C p.K1159Q Missense 15/15 - 1
1-154557490-T-C c.3473A>G p.K1158R Missense 15/15 - 1
1-154557490-T-G c.3473A>C p.K1158T Missense 15/15 - 1
1-154557492-G-A c.3471C>T p.S1157= Synonymous 15/15 - 1
1-154557500-G-A c.3463C>T p.R1155W Missense 15/15 - 2
1-154557501-G-A c.3462C>T p.S1154= Synonymous 15/15 - 2
1-154557501-G-T c.3462C>A p.S1154= Synonymous 15/15 - 1
1-154557505-A-G c.3458T>C p.L1153S Missense 15/15 - 1
1-154557511-T-A c.3452A>T p.N1151I Missense 15/15 - 1
1-154557515-G-A c.3448C>T p.R1150W Missense 15/15 - 3
1-154557516-TG-AT c.3446_3447delinsAT p.P1149H Missense 15/15 - 1
1-154557685-C-T c.3443+8G>A - IntronicSNV - 14/14 13
1-154557693-C-A c.3443G>T p.G1148V Missense 14/15 - 2
1-154557693-C-G c.3443G>C p.G1148A Missense 14/15 - 1
1-154557706-C-A c.3430G>T p.G1144C Missense 14/15 - 2
1-154557706-C-T c.3430G>A p.G1144S Missense 14/15 - 1
1-154557707-TCT-ACA c.3427_3429delinsTGT p.R1143C Missense 14/15 - 1
1-154557710-GG-CA c.3425_3426delinsTG p.T1142M Missense 14/15 - 1
1-154557715-C-T c.3421G>A p.G1141S Missense 14/15 - 1
1-154557716-G-A c.3420C>T p.D1140= Synonymous 14/15 - 1
1-154557719-C-T c.3417G>A p.L1139= Synonymous 14/15 - 1
1-154557721-G-A c.3415C>T p.L1139= Synonymous 14/15 - 3
1-154557727-C-G c.3409G>C p.E1137Q Missense 14/15 - 2
1-154557731-G-C c.3405C>G p.D1135E Missense 14/15 - 3
1-154557731-G-T c.3405C>A p.D1135E Missense 14/15 - 3
1-154557732-T-A c.3404A>T p.D1135V Missense 14/15 - 1
1-154557733-C-T c.3403G>A p.D1135N Missense 14/15 - 1
1-154557735-T-C c.3401A>G p.Y1134C Missense 14/15 - 2
1-154557738-C-T c.3398G>A p.G1133D Missense 14/15 - 1
1-154557742-C-T c.3394G>A p.D1132N Missense 14/15 - 1
1-154557744-G-A c.3392C>T p.A1131V Missense 14/15 - 3
1-154557749-A-T c.3387T>A p.C1129* Nonsense 14/15 - 1
1-154557748-GAC-G c.3386_3387del p.C1129Sfs*3 Frameshift 14/15 - 1
1-154557751-A-C c.3385T>G p.C1129G Missense 14/15 - 1
1-154557752-C-A c.3384G>T p.W1128C Missense 14/15 - 1
1-154557752-C-T c.3384G>A p.W1128* Nonsense 14/15 - 1
1-154557760-C-T c.3376G>A p.V1126I Missense 14/15 - 2
1-154557762-C-T c.3374G>A p.S1125N Missense 14/15 - 1
1-154557763-T-A c.3373A>T p.S1125C Missense 14/15 - 1
1-154557765-GT-CC c.3370_3371delinsGG p.T1124G Missense 14/15 - 1
1-154557771-T-A c.3365A>T p.K1122M Missense 14/15 - 1
1-154557772-T-TA c.3363dup p.K1122* Nonsense 14/15 - 1
1-154557773-A-C c.3363T>G p.T1121= Synonymous 14/15 - 1
1-154557778-T-A c.3358A>T p.K1120* Nonsense 14/15 - 1
1-154557779-CCC-ACA c.3355_3357delinsTGT p.G1119C Missense 14/15 - 1
1-154557780-C-T c.3356G>A p.G1119E Missense 14/15 - 1
1-154557781-C-G c.3355G>C p.G1119R Missense 14/15 - 1
1-154557781-C-T c.3355G>A p.G1119R Missense 14/15 - 1
1-154557789-CT-GC c.3346_3347delinsGC p.R1116A Missense 14/15 - 1
1-154557790-T-G c.3346A>C p.R1116= Synonymous 14/15 - 1
1-154557791-T-C c.3345A>G p.K1115= Synonymous 14/15 - 1
1-154557789-CT-C c.3346del p.R1116Gfs*63 Frameshift 14/15 - 1
1-154557794-GG-TT c.3341_3342delinsAA p.S1114* Nonsense 14/15 - 1
1-154557795-G-T c.3341C>A p.S1114Y Missense 14/15 - 1
1-154557798-T-G c.3338A>C p.D1113A Missense 14/15 - 1
1-154557799-C-G c.3337G>C p.D1113H Missense 14/15 - 10
1-154557799-C-T c.3337G>A p.D1113N Missense 14/15 - 1
1-154557801-T-A c.3335A>T p.Y1112F Missense 14/15 - 7
1-154557803-T-A c.3333A>T p.I1111= Synonymous 14/15 - 1
1-154557803-T-G c.3333A>C p.I1111= Synonymous 14/15 - 1
1-154557805-T-A c.3331A>T p.I1111L Missense 14/15 - 3
1-154557805-T-G c.3331A>C p.I1111L Missense 14/15 - 6
1-154557806-G-A c.3330C>T p.S1110= Synonymous 14/15 - 1
1-154557809-G-A c.3327C>T p.V1109= Synonymous 14/15 - 1
1-154557811-C-T c.3325G>A p.V1109I Missense 14/15 - 1
1-154557813-C-T c.3323G>A p.R1108K Missense 14/15 - 1
1-154557816-CC-GT c.3319_3320delinsAC p.G1107T Missense 14/15 - 1
1-154557816-C-T c.3320G>A p.G1107D Missense 14/15 - 1
1-154557820-C-T c.3316G>A p.V1106I Missense 14/15 - 1
1-154557964-A-C c.3316-144T>G - IntronicSNV - 13/14 1
1-154558231-T-G c.3313A>C p.K1105Q Missense 13/15 - 1
1-154558235-G-C c.3309C>G p.H1103Q Missense 13/15 - 1
1-154558235-G-T c.3309C>A p.H1103Q Missense 13/15 - 1
1-154558235-GTG-TTA c.3307_3309delinsTAA p.H1103* Nonsense 13/15 - 1
1-154558236-TG-AA c.3307_3308delinsTT p.H1103F Missense 13/15 - 1
1-154558236-TG-CA c.3307_3308inv p.H1103C Missense 13/15 - 1
1-154558236-TG-CT c.3307_3308delinsAG p.H1103S Missense 13/15 - 1
1-154558236-TG-GC c.3307_3308delinsGC p.H1103A Missense 13/15 - 1
1-154558237-G-C c.3307C>G p.H1103D Missense 13/15 - 1
1-154558238-G-A c.3306C>T p.N1102= Synonymous 13/15 - 1
1-154558238-G-T c.3306C>A p.N1102K Missense 13/15 - 1
1-154558245-A-G c.3299T>C p.I1100T Missense 13/15 - 1
1-154558255-G-T c.3289C>A p.H1097N Missense 13/15 - 1
1-154558257-C-T c.3287G>A p.R1096Q Missense 13/15 - 1
1-154558258-G-A c.3286C>T p.R1096* Nonsense 13/15 - 5
1-154558267-C-T c.3277G>A p.D1093N Missense 13/15 - 1
1-154558276-C-T c.3268G>A p.A1090T Missense 13/15 - 1
1-154558281-C-G c.3263G>C p.G1088A Missense 13/15 - 1
1-154558285-C-G c.3259G>C p.D1087H Missense 13/15 - 1
1-154558286-T-G c.3258A>C p.R1086S Missense 13/15 - 1
1-154558287-C-G c.3257G>C p.R1086T Missense 13/15 - 1
1-154558287-C-T c.3257G>A p.R1086K Missense 13/15 - 2
1-154558288-CTT-C c.3255_3256del p.D1087Wfs*5 Frameshift 13/15 - 2
1-154558292-C-A c.3252G>T p.V1084= Synonymous 13/15 - 1
1-154558295-AC-TT c.3248_3249delinsAA p.R1083Q Missense 13/15 - 1
1-154558296-C-T c.3248G>A p.R1083H Missense 13/15 - 1
1-154558297-G-A c.3247C>T p.R1083C Missense 13/15 - 1
1-154558298-ACA-CTC c.3244_3246delinsGAG p.C1082E Missense 13/15 - 1
1-154558298-A-T c.3246T>A p.C1082* Nonsense 13/15 - 1
1-154558299-CA-TC c.3244_3245delinsGA p.C1082D Missense 13/15 - 1
1-154558301-G-A c.3243C>T p.C1081= Synonymous 13/15 - 2
1-154558301-G-T c.3243C>A p.C1081* Nonsense 13/15 - 1
1-154558302-C-G c.3242G>C p.C1081S Missense 13/15 - 2
1-154558303-A-G c.3241T>C p.C1081R Missense 13/15 - 1
1-154558306-T-C c.3238A>G p.I1080V Missense 13/15 - 1
1-154558306-T-G c.3238A>C p.I1080L Missense 13/15 - 2
1-154558309-C-T c.3235G>A p.A1079T Missense 13/15 - 1
1-154558311-C-T c.3233G>A p.R1078H Missense 13/15 - 2
1-154558313-G-A c.3231C>T p.T1077= Synonymous 13/15 - 1
1-154558329-C-A c.3215G>T p.S1072I Missense 13/15 - 2
1-154558337-G-T c.3207C>A p.Y1069* Nonsense 13/15 - 1
1-154558338-T-A c.3206A>T p.Y1069F Missense 13/15 - 2
1-154558338-T-G c.3206A>C p.Y1069S Missense 13/15 - 1
1-154558339-A-T c.3205T>A p.Y1069N Missense 13/15 - 1
1-154558656-C-T c.3202+1G>A - IntronicSNV - 12/14 1
1-154558658-C-A c.3201G>T p.L1067F Missense 12/15 - 2
1-154558658-C-G c.3201G>C p.L1067F Missense 12/15 - 2
1-154558659-A-C c.3200T>G p.L1067W Missense 12/15 - 1
1-154558661-T-A c.3198A>T p.T1066= Synonymous 12/15 - 1
1-154558661-T-C c.3198A>G p.T1066= Synonymous 12/15 - 1
1-154558661-T-G c.3198A>C p.T1066= Synonymous 12/15 - 1
1-154558664-G-C c.3195C>G p.V1065= Synonymous 12/15 - 1
1-154558665-A-G c.3194T>C p.V1065A Missense 12/15 - 1
1-154558666-C-G c.3193G>C p.V1065L Missense 12/15 - 1
1-154558666-C-T c.3193G>A p.V1065I Missense 12/15 - 1
1-154558671-T-C c.3188A>G p.K1063R Missense 12/15 - 1
1-154558672-T-G c.3187A>C p.K1063Q Missense 12/15 - 1
1-154558680-A-G c.3179T>C p.I1060T Missense 12/15 - 1
1-154558687-G-A c.3172C>T p.Q1058* Nonsense 12/15 - 1
1-154558689-A-G c.3170T>C p.L1057P Missense 12/15 - 1
1-154558690-G-A c.3169C>T p.L1057= Synonymous 12/15 - 1
1-154558693-A-C c.3166T>G p.F1056V Missense 12/15 - 1
1-154558707-G-A c.3152C>T p.A1051V Missense 12/15 - 2
1-154558707-G-C c.3152C>G p.A1051G Missense 12/15 - 2
1-154558714-G-A c.3145C>T p.Q1049* Nonsense 12/15 - 1
1-154558716-A-G c.3143T>C p.L1048P Missense 12/15 - 2
1-154558719-C-T c.3140G>A p.G1047D Missense 12/15 - 1
1-154558726-C-A c.3133G>T p.V1045L Missense 12/15 - 1
1-154558726-C-G c.3133G>C p.V1045L Missense 12/15 - 1
1-154558735-G-A c.3124C>T p.R1042C Missense 12/15 - 5
1-154558736-T-C c.3123A>G p.L1041= Synonymous 12/15 - 1
1-154558739-G-A c.3120C>T p.I1040= Synonymous 12/15 - 3
1-154558743-T-C c.3116A>G p.K1039R Missense 12/15 - 5
1-154558750-T-C c.3109A>G p.S1037G Missense 12/15 - 1
1-154558751-A-G c.3108T>C p.C1036= Synonymous 12/15 - 1
1-154558752-C-A c.3107G>T p.C1036F Missense 12/15 - 1
1-154558752-CA-GC c.3106_3107delinsGC p.C1036A Missense 12/15 - 1
1-154558752-CA-GT c.3106_3107delinsAC p.C1036T Missense 12/15 - 1
1-154558752-C-T c.3107G>A p.C1036Y Missense 12/15 - 1
1-154558759-T-C c.3100A>G p.M1034V Missense 12/15 - 2
1-154558762-T-G c.3097A>C p.T1033P Missense 12/15 - 1
1-154558763-AC-TT c.3095_3096delinsAA p.R1032Q Missense 12/15 - 1
1-154558765-G-A c.3094C>T p.R1032C Missense 12/15 - 4
1-154558766-G-A c.3093C>T p.L1031= Synonymous 12/15 - 1
1-154558766-G-C c.3093C>G p.L1031= Synonymous 12/15 - 1
1-154558766-G-T c.3093C>A p.L1031= Synonymous 12/15 - 1
1-154558768-G-A c.3091C>T p.L1031F Missense 12/15 - 1
1-154558768-GTC-G c.3089_3090del p.R1030Tfs*7 Frameshift 12/15 - 1
1-154558776-C-G c.3083G>C p.G1028A Missense 12/15 - 2
1-154558777-C-A c.3082G>T p.G1028W Missense 12/15 - 2
1-154558777-C-T c.3082G>A p.G1028R Missense 12/15 - 1
1-154558778-G-A c.3081C>T p.L1027= Synonymous 12/15 - 1
1-154558782-C-T c.3077G>A p.R1026Q Missense 12/15 - 1
1-154558783-G-A c.3076C>T p.R1026W Missense 12/15 - 3
1-154558786-T-C c.3073A>G p.I1025V Missense 12/15 - 1
1-154558789-C-T c.3070G>A p.G1024S Missense 12/15 - 1
1-154558791-T-G c.3068A>C p.D1023A Missense 12/15 - 1
1-154558793-C-A c.3066G>T p.W1022C Missense 12/15 - 1
1-154558796-CGT-ACA c.3061_3063delinsTGT p.T1021C Missense 12/15 - 1
1-154558807-T-C c.3052A>G p.I1018V Missense 12/15 - 1
1-154558809-T-G c.3050A>C p.D1017A Missense 12/15 - 1
1-154558815-G-T c.3044C>A p.S1015Y Missense 12/15 - 1
1-154558823-A-T c.3036T>A p.P1012= Synonymous 12/15 - 1
1-154558825-G-A c.3034C>T p.P1012S Missense 12/15 - 1
1-154558830-G-A c.3029C>T p.T1010I Missense 12/15 - 1
1-154558831-T-A c.3028A>T p.T1010S Missense 12/15 - 1
1-154558833-C-T c.3026G>A p.G1009D Missense 12/15 - 1
1-154558834-C-G c.3025G>C p.G1009R Missense 12/15 - 1
1-154558836-T-A c.3023A>T p.E1008V Missense 12/15 - 1
1-154558837-C-G c.3022G>C p.E1008Q Missense 12/15 - 16
1-154558837-C-T c.3022G>A p.E1008K Missense 12/15 - 2
1-154558839-C-G c.3020G>C p.G1007A Missense 12/15 - 2
1-154559036-G-C c.3020-197C>G - IntronicSNV - 11/14 3
1-154559598-T-C c.3020-759A>G - IntronicSNV - 11/14 5
1-154559795-G-A c.3019+806C>T - IntronicSNV - 11/14 1
1-154559842-T-C c.3019+759A>G - IntronicSNV - 11/14 1
1-154560471-C-A c.3019+130G>T - IntronicSNV - 11/14 1
1-154560471-C-T c.3019+130G>A - IntronicSNV - 11/14 1
1-154560599-A-T c.3019+2T>A - IntronicSNV - 11/14 1
1-154560601-C-G c.3019G>C p.G1007R Missense 11/15 - 17
1-154560601-C-T c.3019G>A p.G1007R Missense 11/15 - 36
1-154560602-G-A c.3018C>T p.N1006= Synonymous 11/15 - 4
1-154560612-TT-GC c.3007_3008delinsGC p.K1003A Missense 11/15 - 2
1-154560617-G-A c.3003C>T p.R1001= Synonymous 11/15 - 1
1-154560619-G-A c.3001C>T p.R1001C Missense 11/15 - 1
1-154560619-G-T c.3001C>A p.R1001S Missense 11/15 - 1
1-154560623-C-A c.2997G>T p.K999N Missense 11/15 - 10
1-154560623-C-G c.2997G>C p.K999N Missense 11/15 - 4
1-154560626-T-A c.2994A>T p.G998= Synonymous 11/15 - 1
1-154560626-T-C c.2994A>G p.G998= Synonymous 11/15 - 1
1-154560626-T-G c.2994A>C p.G998= Synonymous 11/15 - 1
1-154560627-C-G c.2993G>C p.G998A Missense 11/15 - 1
1-154560627-C-T c.2993G>A p.G998E Missense 11/15 - 2
1-154560628-C-G c.2992G>C p.G998R Missense 11/15 - 1
1-154560628-C-T c.2992G>A p.G998R Missense 11/15 - 2
1-154560632-T-C c.2988A>G p.K996= Synonymous 11/15 - 1
1-154560633-T-C c.2987A>G p.K996R Missense 11/15 - 1
1-154560638-A-G c.2982T>C p.N994= Synonymous 11/15 - 3
1-154560644-G-C c.2976C>G p.F992L Missense 11/15 - 1
1-154560658-G-C c.2962C>G p.H988D Missense 11/15 - 1
1-154560660-C-T c.2960G>A p.R987H Missense 11/15 - 1
1-154560661-G-A c.2959C>T p.R987C Missense 11/15 - 2
1-154560663-G-A c.2957C>T p.S986F Missense 11/15 - 1
1-154560673-T-C c.2947A>G p.S983G Missense 11/15 - 1
1-154560678-A-G c.2942T>C p.M981T Missense 11/15 - 1
1-154560683-ACG-TCA c.2935_2937delinsTGA p.R979* Nonsense 11/15 - 1
1-154560684-C-A c.2936G>T p.R979L Missense 11/15 - 1
1-154560684-C-T c.2936G>A p.R979H Missense 11/15 - 2
1-154560685-G-A c.2935C>T p.R979C Missense 11/15 - 3
1-154560688-C-G c.2932G>C p.D978H Missense 11/15 - 1
1-154560692-G-T c.2928C>A p.C976* Nonsense 11/15 - 1
1-154560693-C-G c.2927G>C p.C976S Missense 11/15 - 1
1-154560694-A-T c.2926T>A p.C976S Missense 11/15 - 1
1-154560697-A-G c.2923T>C p.S975P Missense 11/15 - 1
1-154560703-C-G c.2917G>C p.D973H Missense 11/15 - 1
1-154560710-G-A c.2910C>T p.A970= Synonymous 11/15 - 1
1-154560711-GC-CG c.2908_2909delinsCG p.A970R Missense 11/15 - 1
1-154560712-C-T c.2908G>A p.A970T Missense 11/15 - 1
1-154560713-G-A c.2907C>T p.G969= Synonymous 11/15 - 3
1-154560713-G-C c.2907C>G p.G969= Synonymous 11/15 - 1
1-154560713-G-T c.2907C>A p.G969= Synonymous 11/15 - 1
1-154560715-C-T c.2905G>A p.G969S Missense 11/15 - 1
1-154560718-C-T c.2902G>A p.D968N Missense 11/15 - 2
1-154560725-C-T c.2895G>A p.P965= Synonymous 11/15 - 1
1-154560726-G-A c.2894C>T p.P965L Missense 11/15 - 4
1-154560726-G-T c.2894C>A p.P965Q Missense 11/15 - 1
1-154560727-G-A c.2893C>T p.P965S Missense 11/15 - 3
1-154560727-G-T c.2893C>A p.P965T Missense 11/15 - 3
1-154560730-C-A c.2890G>T p.A964S Missense 11/15 - 1
1-154560730-C-T c.2890G>A p.A964T Missense 11/15 - 2
1-154560739-A-G c.2886-5T>C - IntronicSNV - 10/14 1
1-154560942-G-A c.2885+85C>T - IntronicSNV - 10/14 1
1-154560956-G-T c.2885+71C>A - IntronicSNV - 10/14 1
1-154561027-CT-TA c.2884_2885delinsTA p.S962Y Missense 10/15 - 1
1-154561029-G-A c.2883C>T p.I961= Synonymous 10/15 - 1
1-154561033-T-C c.2879A>G p.Y960C Missense 10/15 - 1
1-154561034-A-T c.2878T>A p.Y960N Missense 10/15 - 1
1-154561046-A-G c.2866T>C p.S956P Missense 10/15 - 1
1-154561054-T-C c.2858A>G p.K953R Missense 10/15 - 1
1-154561058-T-A c.2854A>T p.K952* Nonsense 10/15 - 1
1-154561053-C-CT c.2858dup p.T954Dfs*20 Frameshift 10/15 - 1
1-154561068-C-A c.2844G>T p.K948N Missense 10/15 - 1
1-154561075-C-G c.2837G>C p.G946A Missense 10/15 - 1
1-154561080-C-T c.2832G>A p.K944= Synonymous 10/15 - 2
1-154561082-T-C c.2830A>G p.K944E Missense 10/15 - 3
1-154561091-C-G c.2821G>C p.E941Q Missense 10/15 - 1
1-154561095-T-C c.2817A>G p.I939M Missense 10/15 - 1
1-154561097-T-C c.2815A>G p.I939V Missense 10/15 - 3
1-154561102-T-C c.2810A>G p.D937G Missense 10/15 - 1
1-154561108-G-A c.2804C>T p.A935V Missense 10/15 - 7
1-154561108-G-C c.2804C>G p.A935G Missense 10/15 - 1
1-154561109-C-T c.2803G>A p.A935T Missense 10/15 - 2
1-154561117-G-A c.2795C>T p.S932F Missense 10/15 - 1
1-154561117-G-C c.2795C>G p.S932C Missense 10/15 - 1
1-154561128-C-T c.2784G>A p.M928I Missense 10/15 - 1
1-154561132-AA-GG c.2779_2780delinsCC p.L927P Missense 10/15 - 1
1-154561135-T-A c.2777A>T p.E926V Missense 10/15 - 1
1-154561136-C-A c.2776G>T p.E926* Nonsense 10/15 - 1
1-154561139-T-A c.2773A>T p.S925C Missense 10/15 - 2
1-154561144-A-G c.2768T>C p.L923P Missense 10/15 - 3
1-154561145-G-A c.2767C>T p.L923F Missense 10/15 - 1
1-154561145-G-C c.2767C>G p.L923V Missense 10/15 - 1
1-154561145-G-T c.2767C>A p.L923I Missense 10/15 - 1
1-154561146-A-C c.2766T>G p.F922L Missense 10/15 - 1
1-154561146-A-T c.2766T>A p.F922L Missense 10/15 - 1
1-154561148-A-G c.2764T>C p.F922L Missense 10/15 - 1
1-154561228-G-A c.2763-79C>T - IntronicSNV - 9/14 1
1-154561261-G-C c.2763-112C>G - IntronicSNV - 9/14 7
1-154561520-G-A c.2762+325C>T - IntronicSNV - 9/14 1
1-154561661-C-G c.2762+184G>C - IntronicSNV - 9/14 3
1-154561812-G-A c.2762+33C>T - IntronicSNV - 9/14 1
1-154561837-T-A c.2762+8A>T - IntronicSNV - 9/14 1
1-154561838-C-T c.2762+7G>A - IntronicSNV - 9/14 1
1-154561844-C-T c.2762+1G>A - IntronicSNV - 9/14 2
1-154561847-G-A c.2760C>T p.I920= Synonymous 9/15 - 2
1-154561847-G-T c.2760C>A p.I920= Synonymous 9/15 - 1
1-154561848-A-G c.2759T>C p.I920T Missense 9/15 - 1
1-154561854-C-A c.2753G>T p.G918V Missense 9/15 - 1
1-154561854-C-G c.2753G>C p.G918A Missense 9/15 - 1
1-154561855-C-G c.2752G>C p.G918R Missense 9/15 - 1
1-154561858-T-C c.2749A>G p.R917G Missense 9/15 - 1
1-154561861-G-A c.2746C>T p.R916W Missense 9/15 - 3
1-154561863-G-A c.2744C>T p.S915F Missense 9/15 - 1
1-154561867-T-G c.2740A>C p.I914L Missense 9/15 - 1
1-154561869-AT-GC c.2737_2738delinsGC p.I913A Missense 9/15 - 1
1-154561872-T-G c.2735A>C p.E912A Missense 9/15 - 50
1-154561875-G-C c.2732C>G p.A911G Missense 9/15 - 1
1-154561877-A-C c.2730T>G p.H910Q Missense 9/15 - 5
1-154561877-A-T c.2730T>A p.H910Q Missense 9/15 - 5
1-154561877-ATG-CTT c.2728_2730delinsAAG p.H910K Missense 9/15 - 1
1-154561878-T-C c.2729A>G p.H910R Missense 9/15 - 2
1-154561878-TG-GC c.2728_2729delinsGC p.H910A Missense 9/15 - 1
1-154561879-G-A c.2728C>T p.H910Y Missense 9/15 - 3
1-154561880-G-T c.2727C>A p.C909* Nonsense 9/15 - 1
1-154561885-C-A c.2722G>T p.D908Y Missense 9/15 - 1
1-154561889-G-A c.2718C>T p.V906= Synonymous 9/15 - 1
1-154561889-G-C c.2718C>G p.V906= Synonymous 9/15 - 1
1-154561889-G-T c.2718C>A p.V906= Synonymous 9/15 - 1
1-154561891-C-T c.2716G>A p.V906I Missense 9/15 - 1
1-154561909-T-C c.2698A>G p.S900G Missense 9/15 - 1
1-154561912-G-A c.2695C>T p.L899F Missense 9/15 - 1
1-154561914-G-A c.2693C>T p.S898F Missense 9/15 - 4
1-154561914-G-C c.2693C>G p.S898C Missense 9/15 - 4
1-154561914-G-T c.2693C>A p.S898Y Missense 9/15 - 1
1-154561918-C-G c.2689G>C p.D897H Missense 9/15 - 1
1-154561918-C-T c.2689G>A p.D897N Missense 9/15 - 1
1-154561920-C-G c.2687G>C p.G896A Missense 9/15 - 2
1-154561920-C-T c.2687G>A p.G896E Missense 9/15 - 1
1-154561921-C-T c.2686G>A p.G896R Missense 9/15 - 1
1-154561925-C-A c.2682G>T p.V894= Synonymous 9/15 - 25
1-154561925-C-G c.2682G>C p.V894= Synonymous 9/15 - 1
1-154561925-C-T c.2682G>A p.V894= Synonymous 9/15 - 26
1-154561928-A-G c.2679T>C p.C893= Synonymous 9/15 - 1
1-154561928-A-T c.2679T>A p.C893* Nonsense 9/15 - 2
1-154561929-CA-GT c.2677_2678delinsAC p.C893T Missense 9/15 - 1
1-154561929-CA-TC c.2677_2678delinsGA p.C893D Missense 9/15 - 1
1-154561931-G-A c.2676C>T p.R892= Synonymous 9/15 - 2
1-154561931-G-C c.2676C>G p.R892= Synonymous 9/15 - 1
1-154561931-G-T c.2676C>A p.R892= Synonymous 9/15 - 1
1-154561932-C-T c.2675G>A p.R892H Missense 9/15 - 11
1-154561933-G-A c.2674C>T p.R892C Missense 9/15 - 1
1-154561934-A-G c.2673T>C p.N891= Synonymous 9/15 - 4
1-154562186-C-T c.2668+47G>A - IntronicSNV - 8/14 1
1-154562195-G-A c.2668+38C>T - IntronicSNV - 8/14 1
1-154562210-G-A c.2668+23C>T - IntronicSNV - 8/14 1
1-154562213-T-G c.2668+20A>C - IntronicSNV - 8/14 1
1-154562227-A-G c.2668+6T>C - IntronicSNV - 8/14 3
1-154562241-A-C c.2660T>G p.L887W Missense 8/15 - 1
1-154562248-C-A c.2653G>T p.V885F Missense 8/15 - 1
1-154562248-C-CG c.2652dup p.V885Rfs*24 Frameshift 8/15 - 1
1-154562252-G-A c.2649C>T p.V883= Synonymous 8/15 - 1
1-154562256-C-T c.2645G>A p.G882D Missense 8/15 - 2
1-154562258-C-A c.2643G>T p.M881I Missense 8/15 - 2
1-154562258-C-G c.2643G>C p.M881I Missense 8/15 - 2
1-154562258-C-T c.2643G>A p.M881I Missense 8/15 - 3
1-154562260-T-C c.2641A>G p.M881V Missense 8/15 - 1
1-154562262-T-C c.2639A>G p.D880G Missense 8/15 - 2
1-154562263-C-G c.2638G>C p.D880H Missense 8/15 - 1
1-154562266-C-G c.2635G>C p.E879Q Missense 8/15 - 1
1-154562266-C-T c.2635G>A p.E879K Missense 8/15 - 1
1-154562270-G-A c.2631C>T p.D877= Synonymous 8/15 - 1
1-154562272-C-CT c.2628dup p.D877Rfs*3 Frameshift 8/15 - 1
1-154562281-T-A c.2620A>T p.M874L Missense 8/15 - 1
1-154562281-T-C c.2620A>G p.M874V Missense 8/15 - 1
1-154562281-T-G c.2620A>C p.M874L Missense 8/15 - 1
1-154562286-A-G c.2615T>C p.I872T Missense 8/15 - 7
1-154562287-T-C c.2614A>G p.I872V Missense 8/15 - 2
1-154562288-G-A c.2613C>T p.A871= Synonymous 8/15 - 2
1-154562288-G-C c.2613C>G p.A871= Synonymous 8/15 - 1
1-154562288-G-T c.2613C>A p.A871= Synonymous 8/15 - 1
1-154562289-G-A c.2612C>T p.A871V Missense 8/15 - 1
1-154562289-G-C c.2612C>G p.A871G Missense 8/15 - 1
1-154562290-C-T c.2611G>A p.A871T Missense 8/15 - 1
1-154562292-G-A c.2609C>T p.A870V Missense 8/15 - 1
1-154562293-C-T c.2608G>A p.A870T Missense 8/15 - 7
1-154562296-G-T c.2605C>A p.L869M Missense 8/15 - 1
1-154562297-A-G c.2604T>C p.I868= Synonymous 8/15 - 1
1-154562297-A-T c.2604T>A p.I868= Synonymous 8/15 - 1
1-154562302-T-C c.2599A>G p.K867E Missense 8/15 - 1
1-154562307-C-G c.2594G>C p.G865A Missense 8/15 - 1
1-154562311-G-A c.2590C>T p.L864F Missense 8/15 - 2
1-154562313-AA-GG c.2587_2588delinsCC p.L863P Missense 8/15 - 1
1-154562320-G-A c.2581C>T p.P861S Missense 8/15 - 1
1-154562323-G-A c.2578C>T p.Q860* Nonsense 8/15 - 1
1-154562328-C-T c.2573G>A p.S858N Missense 8/15 - 1
1-154562332-T-C c.2569A>G p.N857D Missense 8/15 - 1
1-154562332-TAGTC-T c.2565_2568del p.N857Afs*17 Frameshift 8/15 - 1
1-154562336-C-CA c.2564dup p.T856Dfs*2 Frameshift 8/15 - 1
1-154562340-GT-CC c.2560_2561delinsGG p.T854G Missense 8/15 - 1
1-154562348-G-A c.2553C>T p.C851= Synonymous 8/15 - 3
1-154562348-G-T c.2553C>A p.C851* Nonsense 8/15 - 1
1-154562349-CA-GT c.2551_2552delinsAC p.C851T Missense 8/15 - 1
1-154562351-CC-AT c.2549_2550delinsAT p.R850H Missense 8/15 - 1
1-154562352-CG-TC c.2548_2549delinsGA p.R850E Missense 8/15 - 1
1-154562352-C-T c.2549G>A p.R850Q Missense 8/15 - 1
1-154562353-G-A c.2548C>T p.R850W Missense 8/15 - 1
1-154562364-A-G c.2537T>C p.M846T Missense 8/15 - 1
1-154562368-C-T c.2533G>A p.A845T Missense 8/15 - 1
1-154562371-T-C c.2530A>G p.I844V Missense 8/15 - 2
1-154562373-T-C c.2528A>G p.Q843R Missense 8/15 - 1
1-154562374-G-A c.2527C>T p.Q843* Nonsense 8/15 - 1
1-154562379-T-A c.2522A>T p.H841L Missense 8/15 - 1
1-154562380-G-A c.2521C>T p.H841Y Missense 8/15 - 1
1-154562386-GT-G c.2515del p.T839Pfs*6 Frameshift 8/15 - 1
1-154562387-G-A c.2514C>T p.S838= Synonymous 8/15 - 1
1-154562387-G-C c.2514C>G p.S838R Missense 8/15 - 1
1-154562387-G-T c.2514C>A p.S838R Missense 8/15 - 1
1-154562389-T-G c.2512A>C p.S838R Missense 8/15 - 1
1-154562388-C-T c.2513G>A p.S838N Missense 8/15 - 1
1-154562392-C-G c.2509G>C p.G837R Missense 8/15 - 1
1-154562394-G-A c.2507C>T p.T836I Missense 8/15 - 4
1-154562394-GT-CA c.2506_2507delinsTG p.T836C Missense 8/15 - 1
1-154562398-G-C c.2503C>G p.L835V Missense 8/15 - 1
1-154562594-A-C c.2496+66T>G - IntronicSNV - 7/14 1
1-154562623-CCG-C c.2496+35_2496+36del - IntronicDeletion - 7/14 1
1-154562625-CG-C c.2496+35del - IntronicDeletion - 7/14 1
1-154562625-G-A c.2496+35C>T - IntronicSNV - 7/14 5
1-154562625-G-C c.2496+35C>G - IntronicSNV - 7/14 6
1-154562625-G-T c.2496+35C>A - IntronicSNV - 7/14 5
1-154562628-C-A c.2496+32G>T - IntronicSNV - 7/14 1
1-154562628-C-G c.2496+32G>C - IntronicSNV - 7/14 1
1-154562628-C-T c.2496+32G>A - IntronicSNV - 7/14 1
1-154562625-G-GC c.2496+34dup - IntronicInsertion - 7/14 1
1-154562628-C-CCA c.2496+30_2496+31dup - IntronicInsertion - 7/14 1
1-154562629-C-A c.2496+31G>T - IntronicSNV - 7/14 4
1-154562629-C-G c.2496+31G>C - IntronicSNV - 7/14 2
1-154562660-TGT-ACA c.2494_2496inv p.T832C Missense 7/15 - 1
1-154562663-C-T c.2493G>A p.K831= Synonymous 7/15 - 1
1-154562670-T-G c.2486A>C p.Q829P Missense 7/15 - 1
1-154562671-G-A c.2485C>T p.Q829* Nonsense 7/15 - 1
1-154562675-T-G c.2481A>C p.E827D Missense 7/15 - 1
1-154562678-TG-AT c.2477_2478delinsAT p.P826H Missense 7/15 - 1
1-154562680-G-A c.2476C>T p.P826S Missense 7/15 - 1
1-154562680-G-C c.2476C>G p.P826A Missense 7/15 - 1
1-154562681-G-A c.2475C>T p.S825= Synonymous 7/15 - 1
1-154562681-G-C c.2475C>G p.S825= Synonymous 7/15 - 1
1-154562681-GG-TT c.2474_2475delinsAA p.S825* Nonsense 7/15 - 1
1-154562681-G-T c.2475C>A p.S825= Synonymous 7/15 - 1
1-154562682-G-A c.2474C>T p.S825F Missense 7/15 - 2
1-154562684-CCT-ACA c.2470_2472delinsTGT p.R824C Missense 7/15 - 1
1-154562686-T-C c.2470A>G p.R824G Missense 7/15 - 1
1-154562688-G-C c.2468C>G p.S823* Nonsense 7/15 - 1
1-154562688-G-T c.2468C>A p.S823* Nonsense 7/15 - 1
1-154562690-G-A c.2466C>T p.L822= Synonymous 7/15 - 1
1-154562690-G-C c.2466C>G p.L822= Synonymous 7/15 - 1
1-154562690-G-T c.2466C>A p.L822= Synonymous 7/15 - 1
1-154562692-G-A c.2464C>T p.L822F Missense 7/15 - 1
1-154562694-AG-CT c.2461_2462inv p.L821S Missense 7/15 - 1
1-154562695-AGG-A c.2460_2461del p.L821Pfs*21 Frameshift 7/15 - 1
1-154562697-A-G c.2459T>C p.L820P Missense 7/15 - 2
1-154562698-G-A c.2458C>T p.L820F Missense 7/15 - 1
1-154562704-T-A c.2452A>T p.T818S Missense 7/15 - 1
1-154562705-T-C c.2451A>G p.R817= Synonymous 7/15 - 1
1-154562707-T-G c.2449A>C p.R817= Synonymous 7/15 - 1
1-154562706-C-G c.2450G>C p.R817T Missense 7/15 - 2
1-154562710-T-C c.2446A>G p.R816G Missense 7/15 - 1
1-154562710-T-G c.2446A>C p.R816= Synonymous 7/15 - 1
1-154562711-G-A c.2445C>T p.L815= Synonymous 7/15 - 1
1-154562711-G-C c.2445C>G p.L815= Synonymous 7/15 - 1
1-154562711-G-T c.2445C>A p.L815= Synonymous 7/15 - 1
1-154562713-G-A c.2443C>T p.L815F Missense 7/15 - 1
1-154562714-A-G c.2442T>C p.S814= Synonymous 7/15 - 1
1-154562719-C-A c.2437G>T p.A813S Missense 7/15 - 1
1-154562719-C-G c.2437G>C p.A813P Missense 7/15 - 1
1-154562722-CCT-C c.2433_2434del p.A813Qfs*29 Frameshift 7/15 - 4
1-154562726-C-A c.2430G>T p.V810= Synonymous 7/15 - 1
1-154562728-C-A c.2428G>T p.V810L Missense 7/15 - 1
1-154562731-G-C c.2425C>G p.P809A Missense 7/15 - 2
1-154562732-G-A c.2424C>T p.T808= Synonymous 7/15 - 2
1-154562732-G-C c.2424C>G p.T808= Synonymous 7/15 - 1
1-154562732-G-T c.2424C>A p.T808= Synonymous 7/15 - 1
1-154562734-T-C c.2422A>G p.T808A Missense 7/15 - 2
1-154562735-TAC-CAT c.2419_2421delinsATG p.V807M Missense 7/15 - 1
1-154562737-C-T c.2419G>A p.V807I Missense 7/15 - 1
1-154562739-T-A c.2417A>T p.E806V Missense 7/15 - 3
1-154562739-T-C c.2417A>G p.E806G Missense 7/15 - 1
1-154562747-A-C c.2409T>G p.G803= Synonymous 7/15 - 1
1-154562747-A-G c.2409T>C p.G803= Synonymous 7/15 - 1
1-154562747-A-T c.2409T>A p.G803= Synonymous 7/15 - 1
1-154562748-C-G c.2408G>C p.G803A Missense 7/15 - 1
1-154562747-AC-A c.2408del p.G803Vfs*5 Frameshift 7/15 - 1
1-154562752-T-C c.2404A>G p.M802V Missense 7/15 - 1
1-154562753-G-A c.2403C>T p.R801= Synonymous 7/15 - 1
1-154562754-CG-GC c.2401_2402delinsGC p.R801A Missense 7/15 - 2
1-154562754-C-T c.2402G>A p.R801H Missense 7/15 - 1
1-154562755-G-A c.2401C>T p.R801C Missense 7/15 - 3
1-154562757-T-G c.2399A>C p.E800A Missense 7/15 - 1
1-154562760-G-C c.2396C>G p.A799G Missense 7/15 - 1
1-154562762-C-T c.2394G>A p.K798= Synonymous 7/15 - 1
1-154562763-TT-GC c.2392_2393delinsGC p.K798A Missense 7/15 - 1
1-154562767-C-T c.2389G>A p.E797K Missense 7/15 - 2
1-154562768-G-A c.2388C>T p.N796= Synonymous 7/15 - 1
1-154562771-TC-T c.2385del p.N796Tfs*12 Frameshift 7/15 - 1
1-154562778-A-T c.2378T>A p.I793N Missense 7/15 - 2
1-154562780-C-A c.2376G>T p.L792F Missense 7/15 - 1
1-154562780-C-G c.2376G>C p.L792F Missense 7/15 - 1
1-154562783-G-A c.2373C>T p.V791= Synonymous 7/15 - 1
1-154562783-GAC-CAT c.2371_2373delinsATG p.V791M Missense 7/15 - 1
1-154562783-G-C c.2373C>G p.V791= Synonymous 7/15 - 1
1-154562783-GAC-G c.2371_2372del p.V791Lfs*51 Frameshift 7/15 - 1
1-154562786-AC-TT c.2369_2370delinsAA p.R790Q Missense 7/15 - 1
1-154562787-C-T c.2369G>A p.R790H Missense 7/15 - 3
1-154562788-G-A c.2368C>T p.R790C Missense 7/15 - 1
1-154562791-G-C c.2365C>G p.L789V Missense 7/15 - 2
1-154562793-G-C c.2363C>G p.A788G Missense 7/15 - 1
1-154562796-G-A c.2360C>T p.A787V Missense 7/15 - 1
1-154562800-C-T c.2356G>A p.D786N Missense 7/15 - 1
1-154562803-C-A c.2353G>T p.A785S Missense 7/15 - 2
1-154562803-C-T c.2353G>A p.A785T Missense 7/15 - 1
1-154562815-TTG-T c.2340_2341del p.K781Afs*61 Frameshift 7/15 - 1
1-154562821-G-T c.2335C>A p.Q779K Missense 7/15 - 1
1-154562823-TT-GC c.2332_2333delinsGC p.K778A Missense 7/15 - 2
1-154562826-TT-GC c.2329_2330delinsGC p.K777A Missense 7/15 - 1
1-154562827-T-C c.2329A>G p.K777E Missense 7/15 - 1
1-154562828-G-C c.2328C>G p.S776R Missense 7/15 - 1
1-154562828-G-T c.2328C>A p.S776R Missense 7/15 - 1
1-154562830-T-G c.2326A>C p.S776R Missense 7/15 - 1
1-154562835-G-T c.2321C>A p.A774E Missense 7/15 - 1
1-154562836-C-T c.2320G>A p.A774T Missense 7/15 - 3
1-154562837-G-A c.2319C>T p.C773= Synonymous 7/15 - 1
1-154562838-CA-GC c.2317_2318delinsGC p.C773A Missense 7/15 - 1
1-154562843-G-A c.2313C>T p.A771= Synonymous 7/15 - 1
1-154562844-G-A c.2312C>T p.A771V Missense 7/15 - 1
1-154562844-G-GT c.2311_2312insA p.A771Dfs*72 Frameshift 7/15 - 1
1-154562845-C-A c.2311G>T p.A771S Missense 7/15 - 1
1-154562845-C-T c.2311G>A p.A771T Missense 7/15 - 1
1-154562845-C-CT c.2310dup p.A771Sfs*72 Frameshift 7/15 - 1
1-154562848-G-A c.2308C>T p.P770S Missense 7/15 - 1
1-154562852-C-T c.2304G>A p.W768* Nonsense 7/15 - 2
1-154562853-C-T c.2303G>A p.W768* Nonsense 7/15 - 2
1-154562856-C-A c.2300G>T p.R767L Missense 7/15 - 4
1-154562856-C-T c.2300G>A p.R767H Missense 7/15 - 1
1-154562857-G-A c.2299C>T p.R767C Missense 7/15 - 5
1-154562859-C-G c.2297G>C p.G766A Missense 7/15 - 1
1-154562865-A-C c.2291T>G p.V764G Missense 7/15 - 1
1-154562868-T-C c.2288A>G p.K763R Missense 7/15 - 1
1-154562869-T-C c.2287A>G p.K763E Missense 7/15 - 1
1-154562873-T-C c.2283A>G p.Q761= Synonymous 7/15 - 1
1-154562876-G-T c.2280C>A p.Y760* Nonsense 7/15 - 1
1-154562881-C-T c.2275G>A p.V759I Missense 7/15 - 2
1-154562883-AA-GC c.2272_2273delinsGC p.F758A Missense 7/15 - 2
1-154563280-T-A c.2271-395A>T - IntronicSNV - 6/14 1
1-154564141-T-C c.2271-1256A>G - IntronicSNV - 6/14 4
1-154564712-T-A c.2271-1827A>T - IntronicSNV - 6/14 4
1-154566225-T-C c.2270+3056A>G - IntronicSNV - 6/14 2
1-154568086-A-C c.2270+1195T>G - IntronicSNV - 6/14 5
1-154568086-A-G c.2270+1195T>C - IntronicSNV - 6/14 5
1-154568665-A-G c.2270+616T>C - IntronicSNV - 6/14 1
1-154568683-T-G c.2270+598A>C - IntronicSNV - 6/14 3
1-154568943-C-T c.2270+338G>A - IntronicSNV - 6/14 1
1-154569281-T-C c.2270A>G p.K757R Missense 6/15 - 1
1-154569282-T-C c.2269A>G p.K757E Missense 6/15 - 1
1-154569284-G-A c.2267C>T p.P756L Missense 6/15 - 1
1-154569286-C-T c.2265G>A p.E755= Synonymous 6/15 - 1
1-154569286-CTC-ACA c.2263_2265delinsTGT p.E755C Missense 6/15 - 1
1-154569289-G-A c.2262C>T p.H754= Synonymous 6/15 - 1
1-154569290-TG-GC c.2260_2261delinsGC p.H754A Missense 6/15 - 2
1-154569294-G-A c.2257C>T p.P753S Missense 6/15 - 1
1-154569299-C-T c.2252G>A p.G751E Missense 6/15 - 1
1-154569300-CG-C c.2250del p.G751Dfs*42 Frameshift 6/15 - 1
1-154569303-A-T c.2248T>A p.S750T Missense 6/15 - 1
1-154569304-C-T c.2247G>A p.Q749= Synonymous 6/15 - 1
1-154569308-T-C c.2243A>G p.D748G Missense 6/15 - 1
1-154569309-C-T c.2242G>A p.D748N Missense 6/15 - 1
1-154569310-G-A c.2241C>T p.V747= Synonymous 6/15 - 2
1-154569310-G-C c.2241C>G p.V747= Synonymous 6/15 - 1
1-154569310-G-T c.2241C>A p.V747= Synonymous 6/15 - 1
1-154569311-A-G c.2240T>C p.V747A Missense 6/15 - 1
1-154569312-C-T c.2239G>A p.V747I Missense 6/15 - 3
1-154569313-CA-AT c.2237_2238delinsAT p.L746Y Missense 6/15 - 1
1-154569313-C-T c.2238G>A p.L746= Synonymous 6/15 - 1
1-154569319-G-C c.2232C>G p.F744L Missense 6/15 - 2
1-154569319-G-T c.2232C>A p.F744L Missense 6/15 - 2
1-154569321-A-G c.2230T>C p.F744L Missense 6/15 - 2
1-154569324-C-T c.2227G>A p.E743K Missense 6/15 - 1
1-154569328-AG-CT c.2222_2223inv p.A741E Missense 6/15 - 1
1-154569329-G-C c.2222C>G p.A741G Missense 6/15 - 1
1-154569329-G-T c.2222C>A p.A741D Missense 6/15 - 1
1-154569330-C-T c.2221G>A p.A741T Missense 6/15 - 1
1-154569335-C-T c.2216G>A p.G739D Missense 6/15 - 1
1-154569338-T-C c.2213A>G p.H738R Missense 6/15 - 2
1-154569343-GCG-CCA c.2206_2208delinsTGG p.R736W Missense 6/15 - 1
1-154569344-C-A c.2207G>T p.R736L Missense 6/15 - 1
1-154569344-C-T c.2207G>A p.R736H Missense 6/15 - 2
1-154569345-G-A c.2206C>T p.R736C Missense 6/15 - 1
1-154569347-GC-CA c.2203_2204delinsTG p.A735C Missense 6/15 - 1
1-154569348-C-T c.2203G>A p.A735T Missense 6/15 - 1
1-154569353-TCCAAAAGGCCA-AC c.2187_2198delinsGT p.G730Cfs*60 Frameshift 6/15 - 1
1-154569354-C-G c.2197G>C p.E733Q Missense 6/15 - 1
1-154569354-C-T c.2197G>A p.E733K Missense 6/15 - 1
1-154569355-C-A c.2196G>T p.L732F Missense 6/15 - 1
1-154569365-C-T c.2186G>A p.G729D Missense 6/15 - 1
1-154569366-C-A c.2185G>T p.G729C Missense 6/15 - 1
1-154569366-C-T c.2185G>A p.G729S Missense 6/15 - 1
1-154569371-G-A c.2180C>T p.P727L Missense 6/15 - 1
1-154569372-G-A c.2179C>T p.P727S Missense 6/15 - 1
1-154569377-GT-CA c.2173_2174delinsTG p.T725C Missense 6/15 - 1
1-154569379-G-T c.2172C>A p.N724K Missense 6/15 - 1
1-154569380-TT-GC c.2170_2171delinsGC p.N724A Missense 6/15 - 1
1-154569382-CAG-GTT c.2167_2169delinsAAC p.L723N Missense 6/15 - 1
1-154569389-CT-GC c.2161_2162delinsGC p.R721A Missense 6/15 - 1
1-154569391-CAC-GAT c.2158_2160delinsATC p.V720I Missense 6/15 - 1
1-154569392-A-G c.2159T>C p.V720A Missense 6/15 - 1
1-154569394-G-A c.2157C>T p.L719= Synonymous 6/15 - 3
1-154569395-AG-CT c.2155_2156inv p.L719S Missense 6/15 - 1
1-154569398-T-G c.2153A>C p.E718A Missense 6/15 - 1
1-154569400-G-A c.2151C>T p.G717= Synonymous 6/15 - 1
1-154569404-A-T c.2147T>A p.I716N Missense 6/15 - 1
1-154569407-TT-GC c.2143_2144delinsGC p.K715A Missense 6/15 - 1
1-154569410-CT-GC c.2140_2141delinsGC p.R714A Missense 6/15 - 1
1-154569416-TT-GC c.2134_2135delinsGC p.K712A Missense 6/15 - 1
1-154569418-G-A c.2133C>T p.N711= Synonymous 6/15 - 1
1-154569420-T-TG c.2130dup p.N711Qfs*33 Frameshift 6/15 - 1
1-154569423-G-C c.2128C>G p.P710A Missense 6/15 - 1
1-154569425-AT-GC c.2125_2126delinsGC p.M709A Missense 6/15 - 1
1-154569428-AT-GC c.2122_2123delinsGC p.M708A Missense 6/15 - 1
1-154569431-G-A c.2120C>T p.S707F Missense 6/15 - 3
1-154569431-G-T c.2120C>A p.S707Y Missense 6/15 - 3
1-154569432-A-T c.2119T>A p.S707T Missense 6/15 - 2
1-154569440-T-C c.2111A>G p.N704S Missense 6/15 - 2
1-154569449-G-A c.2102C>T p.S701L Missense 6/15 - 2
1-154569450-A-C c.2101T>G p.S701A Missense 6/15 - 1
1-154569452-T-C c.2099A>G p.E700G Missense 6/15 - 1
1-154569453-C-G c.2098G>C p.E700Q Missense 6/15 - 2
1-154569457-G-A c.2094C>T p.I698= Synonymous 6/15 - 1
1-154569457-G-T c.2094C>A p.I698= Synonymous 6/15 - 1
1-154569463-AC-CT c.2087_2088delinsAG p.G696E Missense 6/15 - 2
1-154569464-C-T c.2087G>A p.G696D Missense 6/15 - 1
1-154569467-T-C c.2084A>G p.E695G Missense 6/15 - 1
1-154569471-G-A c.2080C>T p.P694S Missense 6/15 - 1
1-154569591-C-T c.2079+8G>A - IntronicSNV - 5/14 1
1-154569600-T-A c.2078A>T p.Q693L Missense 5/15 - 1
1-154569601-G-A c.2077C>T p.Q693* Nonsense 5/15 - 1
1-154569601-G-T c.2077C>A p.Q693K Missense 5/15 - 1
1-154569603-T-C c.2075A>G p.N692S Missense 5/15 - 1
1-154569603-TT-GC c.2074_2075delinsGC p.N692A Missense 5/15 - 1
1-154569604-T-G c.2074A>C p.N692H Missense 5/15 - 1
1-154569607-C-G c.2071G>C p.D691H Missense 5/15 - 1
1-154569610-A-G c.2068T>C p.S690P Missense 5/15 - 1
1-154569612-G-C c.2066C>G p.A689G Missense 5/15 - 1
1-154569614-C-A c.2064G>T p.M688I Missense 5/15 - 1
1-154569618-G-A c.2060C>T p.S687F Missense 5/15 - 1
1-154569624-G-A c.2054C>T p.T685I Missense 5/15 - 1
1-154569633-C-G c.2045G>C p.G682A Missense 5/15 - 1
1-154569633-C-T c.2045G>A p.G682E Missense 5/15 - 1
1-154569634-C-A c.2044G>T p.G682W Missense 5/15 - 1
1-154569643-C-T c.2035G>A p.A679T Missense 5/15 - 1
1-154569645-T-G c.2033A>C p.K678T Missense 5/15 - 1
1-154569657-T-C c.2021A>G p.E674G Missense 5/15 - 1
1-154569658-C-T c.2020G>A p.E674K Missense 5/15 - 1
1-154569662-GGC-CTT c.2014_2016delinsAAG p.A672K Missense 5/15 - 1
1-154569662-GG-CT c.2015_2016delinsAG p.A672E Missense 5/15 - 1
1-154569663-G-A c.2015C>T p.A672V Missense 5/15 - 1
1-154569664-C-T c.2014G>A p.A672T Missense 5/15 - 1
1-154569670-G-T c.2008C>A p.Q670K Missense 5/15 - 1
1-154569672-TT-GC c.2005_2006delinsGC p.K669A Missense 5/15 - 1
1-154569679-C-T c.1999G>A p.V667M Missense 5/15 - 1
1-154569681-T-C c.1997A>G p.K666R Missense 5/15 - 1
1-154569681-TT-CC c.1996_1997delinsGG p.K666G Missense 5/15 - 1
1-154569681-TT-GC c.1996_1997delinsGC p.K666A Missense 5/15 - 1
1-154569682-T-C c.1996A>G p.K666E Missense 5/15 - 1
1-154569685-T-C c.1993A>G p.K665E Missense 5/15 - 1
1-154569686-G-A c.1992C>T p.S664= Synonymous 5/15 - 1
1-154569687-CT-AG c.1990_1991inv p.S664L Missense 5/15 - 1
1-154569693-G-C c.1985C>G p.A662G Missense 5/15 - 1
1-154569696-C-A c.1982G>T p.S661I Missense 5/15 - 1
1-154569697-T-C c.1981A>G p.S661G Missense 5/15 - 1
1-154569701-A-G c.1977T>C p.S659= Synonymous 5/15 - 1
1-154569702-C-T c.1976G>A p.S659N Missense 5/15 - 1
1-154569702-CT-GC c.1975_1976delinsGC p.S659A Missense 5/15 - 1
1-154569703-T-C c.1975A>G p.S659G Missense 5/15 - 1
1-154569705-G-A c.1973C>T p.P658L Missense 5/15 - 1
1-154569708-A-C c.1970T>G p.F657C Missense 5/15 - 1
1-154569708-A-T c.1970T>A p.F657Y Missense 5/15 - 2
1-154569711-G-A c.1967C>T p.T656I Missense 5/15 - 1
1-154569711-GT-CA c.1966_1967delinsTG p.T656C Missense 5/15 - 1
1-154569717-G-A c.1961C>T p.A654V Missense 5/15 - 2
1-154569718-C-T c.1960G>A p.A654T Missense 5/15 - 2
1-154569733-A-C c.1945T>G p.C649G Missense 5/15 - 1
1-154569739-G-T c.1939C>A p.Q647K Missense 5/15 - 2
1-154569740-G-GAC c.1937_1938insGT p.F646Lfs*16 SpliceAcceptorInsertion 5/15 - 1
1-154569762-C-T c.1935-19G>A - IntronicSNV - 4/14 1
1-154569763-G-A c.1935-20C>T - IntronicSNV - 4/14 1
1-154570296-G-A c.1934+8C>T - IntronicSNV - 4/14 1
1-154570307-G-A c.1931C>T p.P644L Missense 4/15 - 1
1-154570309-T-A c.1929A>T p.E643D Missense 4/15 - 1
1-154570309-T-G c.1929A>C p.E643D Missense 4/15 - 1
1-154570312-A-G c.1926T>C p.H642= Synonymous 4/15 - 1
1-154570313-T-C c.1925A>G p.H642R Missense 4/15 - 1
1-154570313-T-G c.1925A>C p.H642P Missense 4/15 - 1
1-154570314-G-A c.1924C>T p.H642Y Missense 4/15 - 1
1-154570315-G-A c.1923C>T p.A641= Synonymous 4/15 - 1
1-154570316-G-A c.1922C>T p.A641V Missense 4/15 - 3
1-154570316-G-C c.1922C>G p.A641G Missense 4/15 - 1
1-154570317-C-T c.1921G>A p.A641T Missense 4/15 - 2
1-154570319-G-T c.1919C>A p.P640H Missense 4/15 - 1
1-154570323-C-A c.1915G>T p.G639C Missense 4/15 - 1
1-154570326-C-G c.1912G>C p.E638Q Missense 4/15 - 2
1-154570327-T-C c.1911A>G p.K637= Synonymous 4/15 - 1
1-154570328-T-C c.1910A>G p.K637R Missense 4/15 - 1
1-154570329-T-C c.1909A>G p.K637E Missense 4/15 - 1
1-154570329-TG-T c.1908del p.E638Kfs*23 Frameshift 4/15 - 1
1-154570335-G-A c.1903C>T p.L635= Synonymous 4/15 - 1
1-154570335-G-T c.1903C>A p.L635M Missense 4/15 - 1
1-154570336-G-A c.1902C>T p.L634= Synonymous 4/15 - 1
1-154570336-G-C c.1902C>G p.L634= Synonymous 4/15 - 1
1-154570336-G-T c.1902C>A p.L634= Synonymous 4/15 - 1
1-154570347-C-T c.1891G>A p.E631K Missense 4/15 - 3
1-154570348-G-A c.1890C>T p.C630= Synonymous 4/15 - 1
1-154570351-G-A c.1887C>T p.S629= Synonymous 4/15 - 1
1-154570351-G-C c.1887C>G p.S629= Synonymous 4/15 - 1
1-154570351-G-T c.1887C>A p.S629= Synonymous 4/15 - 1
1-154570356-T-G c.1882A>C p.N628H Missense 4/15 - 1
1-154570360-C-T c.1878G>A p.L626= Synonymous 4/15 - 1
1-154570362-A-G c.1876T>C p.L626= Synonymous 4/15 - 1
1-154570367-T-C c.1871A>G p.H624R Missense 4/15 - 1
1-154570368-G-A c.1870C>T p.H624Y Missense 4/15 - 1
1-154570371-T-C c.1867A>G p.M623V Missense 4/15 - 2
1-154570372-A-G c.1866T>C p.C622= Synonymous 4/15 - 1
1-154570373-C-T c.1865G>A p.C622Y Missense 4/15 - 1
1-154570371-TAC-T c.1865_1866del p.C622Yfs*21 Frameshift 4/15 - 1
1-154570380-G-A c.1858C>T p.L620F Missense 4/15 - 1
1-154570388-GT-CA c.1849_1850delinsTG p.T617C Missense 4/15 - 1
1-154570392-C-T c.1846G>A p.V616I Missense 4/15 - 5
1-154570393-G-A c.1845C>T p.P615= Synonymous 4/15 - 1
1-154570393-G-C c.1845C>G p.P615= Synonymous 4/15 - 1
1-154570393-G-T c.1845C>A p.P615= Synonymous 4/15 - 1
1-154570394-G-T c.1844C>A p.P615H Missense 4/15 - 1
1-154570396-G-A c.1842C>T p.S614= Synonymous 4/15 - 1
1-154570399-C-A c.1839G>T p.K613N Missense 4/15 - 1
1-154570399-C-G c.1839G>C p.K613N Missense 4/15 - 1
1-154570406-G-A c.1832C>T p.S611F Missense 4/15 - 1
1-154570406-GAAA-G c.1829_1831del p.F610del InFrameDeletion 4/15 - 1
1-154570408-AAAG-A c.1827_1829del p.F610del InFrameDeletion 4/15 - 1
1-154570413-A-ATT c.1824_1825insAA p.F609Nfs*53 Frameshift 4/15 - 1
1-154570414-G-A c.1824C>T p.S608= Synonymous 4/15 - 3
1-154570422-C-T c.1816G>A p.A606T Missense 4/15 - 1
1-154570423-TGA-GTT c.1813_1815delinsAAC p.S605N Missense 4/15 - 1
1-154570424-G-C c.1814C>G p.S605* Nonsense 4/15 - 1
1-154570426-A-C c.1812T>G p.P604= Synonymous 4/15 - 1
1-154570427-G-A c.1811C>T p.P604L Missense 4/15 - 1
1-154570429-G-A c.1809C>T p.T603= Synonymous 4/15 - 3
1-154570429-G-C c.1809C>G p.T603= Synonymous 4/15 - 2
1-154570429-G-T c.1809C>A p.T603= Synonymous 4/15 - 2
1-154570426-A-AG c.1811dup p.S605Ffs*17 Frameshift 4/15 - 1
1-154570430-G-C c.1808C>G p.T603S Missense 4/15 - 1
1-154570430-GT-TC c.1807_1808delinsGA p.T603D Missense 4/15 - 2
1-154570431-T-C c.1807A>G p.T603A Missense 4/15 - 4
1-154570432-G-A c.1806C>T p.P602= Synonymous 4/15 - 2
1-154570432-G-C c.1806C>G p.P602= Synonymous 4/15 - 1
1-154570432-G-T c.1806C>A p.P602= Synonymous 4/15 - 1
1-154570433-G-A c.1805C>T p.P602L Missense 4/15 - 1
1-154570433-G-T c.1805C>A p.P602H Missense 4/15 - 1
1-154570435-G-A c.1803C>T p.T601= Synonymous 4/15 - 1
1-154570435-G-C c.1803C>G p.T601= Synonymous 4/15 - 1
1-154570435-G-T c.1803C>A p.T601= Synonymous 4/15 - 1
1-154570438-C-A c.1800G>T p.Q600H Missense 4/15 - 2
1-154570438-C-G c.1800G>C p.Q600H Missense 4/15 - 1
1-154570438-C-T c.1800G>A p.Q600= Synonymous 4/15 - 1
1-154570441-G-A c.1797C>T p.S599= Synonymous 4/15 - 1
1-154570441-G-C c.1797C>G p.S599= Synonymous 4/15 - 1
1-154570441-G-T c.1797C>A p.S599= Synonymous 4/15 - 1
1-154570442-G-C c.1796C>G p.S599C Missense 4/15 - 1
1-154570444-C-T c.1794G>A p.E598= Synonymous 4/15 - 1
1-154570445-T-G c.1793A>C p.E598A Missense 4/15 - 1
1-154570448-G-A c.1790C>T p.A597V Missense 4/15 - 1
1-154570451-G-C c.1787C>G p.T596S Missense 4/15 - 1
1-154570452-T-A c.1786A>T p.T596S Missense 4/15 - 1
1-154570872-A-G c.1785+6T>C - IntronicSNV - 3/14 1
1-154570873-C-T c.1785+5G>A - IntronicSNV - 3/14 1
1-154570874-C-T c.1785+4G>A - IntronicSNV - 3/14 1
1-154570880-T-G c.1783A>C p.K595Q Missense 3/15 - 1
1-154570881-C-A c.1782G>T p.E594D Missense 3/15 - 1
1-154570883-C-T c.1780G>A p.E594K Missense 3/15 - 3
1-154570888-T-A c.1775A>T p.E592V Missense 3/15 - 1
1-154570888-T-C c.1775A>G p.E592G Missense 3/15 - 2
1-154570889-C-A c.1774G>T p.E592* Nonsense 3/15 - 2
1-154570897-G-A c.1766C>T p.T589I Missense 3/15 - 1
1-154570897-G-C c.1766C>G p.T589R Missense 3/15 - 2
1-154570897-G-T c.1766C>A p.T589K Missense 3/15 - 1
1-154570898-T-C c.1765A>G p.T589A Missense 3/15 - 2
1-154570900-G-A c.1763C>T p.S588F Missense 3/15 - 1
1-154570903-T-C c.1760A>G p.Y587C Missense 3/15 - 7
1-154570907-G-A c.1756C>T p.H586Y Missense 3/15 - 1
1-154570912-G-C c.1751C>G p.S584* Nonsense 3/15 - 1
1-154570914-T-A c.1749A>T p.E583D Missense 3/15 - 5
1-154570914-T-G c.1749A>C p.E583D Missense 3/15 - 5
1-154570916-C-T c.1747G>A p.E583K Missense 3/15 - 3
1-154570919-C-CT c.1743dup p.E582Rfs*40 Frameshift 3/15 - 1
1-154570922-A-C c.1741T>G p.S581A Missense 3/15 - 1
1-154570930-CT-GC c.1732_1733delinsGC p.S578A Missense 3/15 - 1
1-154570931-T-C c.1732A>G p.S578G Missense 3/15 - 2
1-154570936-T-C c.1727A>G p.K576R Missense 3/15 - 1
1-154570939-G-A c.1724C>T p.A575V Missense 3/15 - 1
1-154570940-C-A c.1723G>T p.A575S Missense 3/15 - 1
1-154570942-T-C c.1721A>G p.K574R Missense 3/15 - 1
1-154570945-G-A c.1718C>T p.A573V Missense 3/15 - 1
1-154570947-T-A c.1716A>T p.E572D Missense 3/15 - 1
1-154570947-T-C c.1716A>G p.E572= Synonymous 3/15 - 1
1-154570947-T-G c.1716A>C p.E572D Missense 3/15 - 1
1-154570949-C-T c.1714G>A p.E572K Missense 3/15 - 1
1-154570951-T-C c.1712A>G p.E571G Missense 3/15 - 2
1-154570958-G-A c.1705C>T p.L569= Synonymous 3/15 - 1
1-154570959-A-G c.1704T>C p.I568= Synonymous 3/15 - 2
1-154570959-A-T c.1704T>A p.I568= Synonymous 3/15 - 2
1-154570962-TG-CA c.1700_1701inv p.T567M Missense 3/15 - 1
1-154570963-G-A c.1700C>T p.T567I Missense 3/15 - 1
1-154570966-A-T c.1697T>A p.M566K Missense 3/15 - 1
1-154570967-T-C c.1696A>G p.M566V Missense 3/15 - 1
1-154570972-T-C c.1691A>G p.K564R Missense 3/15 - 1
1-154570978-G-A c.1685C>T p.A562V Missense 3/15 - 1
1-154570978-G-C c.1685C>G p.A562G Missense 3/15 - 1
1-154570979-C-A c.1684G>T p.A562S Missense 3/15 - 1
1-154570979-C-G c.1684G>C p.A562P Missense 3/15 - 1
1-154570979-C-T c.1684G>A p.A562T Missense 3/15 - 2
1-154570985-C-T c.1678G>A p.D560N Missense 3/15 - 3
1-154570987-T-C c.1676A>G p.Q559R Missense 3/15 - 1
1-154570989-C-A c.1674G>T p.K558N Missense 3/15 - 1
1-154570989-C-G c.1674G>C p.K558N Missense 3/15 - 1
1-154570990-TT-GC c.1672_1673delinsGC p.K558A Missense 3/15 - 1
1-154570992-G-A c.1671C>T p.A557= Synonymous 3/15 - 1
1-154570992-G-C c.1671C>G p.A557= Synonymous 3/15 - 1
1-154570992-G-T c.1671C>A p.A557= Synonymous 3/15 - 1
1-154570994-C-G c.1669G>C p.A557P Missense 3/15 - 1
1-154570994-C-T c.1669G>A p.A557T Missense 3/15 - 2
1-154570998-T-C c.1665A>G p.K555= Synonymous 3/15 - 1
1-154570999-TT-GC c.1663_1664delinsGC p.K555A Missense 3/15 - 1
1-154571003-T-C c.1660A>G p.K554E Missense 3/15 - 1
1-154571005-C-A c.1658G>T p.S553I Missense 3/15 - 1
1-154571005-CT-TC c.1657_1658delinsGA p.S553D Missense 3/15 - 1
1-154571007-TCC-ACA c.1654_1656delinsTGT p.G552C Missense 3/15 - 1
1-154571009-C-G c.1654G>C p.G552R Missense 3/15 - 1
1-154571009-C-T c.1654G>A p.G552R Missense 3/15 - 1
1-154571011-G-C c.1652C>G p.A551G Missense 3/15 - 1
1-154571012-C-A c.1651G>T p.A551S Missense 3/15 - 1
1-154571012-C-T c.1651G>A p.A551T Missense 3/15 - 1
1-154571016-AGC-CTT c.1645_1647delinsAAG p.A549K Missense 3/15 - 1
1-154571017-G-A c.1646C>T p.A549V Missense 3/15 - 1
1-154571017-G-T c.1646C>A p.A549D Missense 3/15 - 3
1-154571018-C-A c.1645G>T p.A549S Missense 3/15 - 1
1-154571018-C-T c.1645G>A p.A549T Missense 3/15 - 2
1-154571021-G-A c.1642C>T p.P548S Missense 3/15 - 1
1-154571024-G-A c.1639C>T p.P547S Missense 3/15 - 2
1-154571024-G-C c.1639C>G p.P547A Missense 3/15 - 1
1-154571028-C-G c.1635G>C p.E545D Missense 3/15 - 1
1-154571030-C-G c.1633G>C p.E545Q Missense 3/15 - 2
1-154571030-C-T c.1633G>A p.E545K Missense 3/15 - 1
1-154571031-TCG-ACA c.1630_1632delinsTGT p.R544C Missense 3/15 - 2
1-154571033-G-A c.1630C>T p.R544* Nonsense 3/15 - 5
1-154571033-G-C c.1630C>G p.R544G Missense 3/15 - 1
1-154571036-C-T c.1627G>A p.G543S Missense 3/15 - 1
1-154571038-T-C c.1625A>G p.N542S Missense 3/15 - 2
1-154571041-A-T c.1622T>A p.I541N Missense 3/15 - 1
1-154571041-AT-GC c.1621_1622delinsGC p.I541A Missense 3/15 - 1
1-154571042-T-C c.1621A>G p.I541V Missense 3/15 - 1
1-154571045-C-T c.1618G>A p.V540I Missense 3/15 - 1
1-154571046-A-T c.1617T>A p.V539= Synonymous 3/15 - 1
1-154571047-AC-A c.1615del p.V539Lfs*25 Frameshift 3/15 - 1
1-154571050-T-C c.1613A>G p.Q538R Missense 3/15 - 1
1-154571057-T-C c.1606A>G p.K536E Missense 3/15 - 2
1-154571174-T-A c.1602-113A>T - IntronicSNV - 2/14 1
1-154571174-T-TAGA c.1602-114_1602-113insTCT - IntronicInsertion - 2/14 2
1-154571176-G-GAGA c.1602-118_1602-116dup - IntronicInsertion - 2/14 1
1-154571826-C-T c.1602-765G>A - IntronicSNV - 2/14 3
1-154572228-C-T c.1602-1167G>A - IntronicSNV - 2/14 2
1-154572285-A-T c.1602-1224T>A - IntronicSNV - 2/14 1
1-154572286-G-A c.1602-1225C>T - IntronicSNV - 2/14 1
1-154572286-G-C c.1602-1225C>G - IntronicSNV - 2/14 1
1-154572286-G-T c.1602-1225C>A - IntronicSNV - 2/14 1
1-154573419-C-T c.1601+98G>A - IntronicSNV - 2/14 6
1-154573517-C-T c.1601G>A p.R534Q Missense 2/15 - 5
1-154573518-G-A c.1600C>T p.R534* Nonsense 2/15 - 4
1-154573520-G-T c.1598C>A p.P533H Missense 2/15 - 1
1-154573521-G-A c.1597C>T p.P533S Missense 2/15 - 1
1-154573526-TG-GC c.1591_1592delinsGC p.H531A Missense 2/15 - 1
1-154573527-G-A c.1591C>T p.H531Y Missense 2/15 - 7
1-154573527-G-T c.1591C>A p.H531N Missense 2/15 - 1
1-154573530-G-C c.1588C>G p.P530A Missense 2/15 - 1
1-154573532-G-A c.1586C>T p.P529L Missense 2/15 - 1
1-154573535-C-T c.1583G>A p.G528E Missense 2/15 - 1
1-154573540-C-T c.1578G>A p.Q526= Synonymous 2/15 - 2
1-154573541-T-C c.1577A>G p.Q526R Missense 2/15 - 1
1-154573544-T-C c.1574A>G p.E525G Missense 2/15 - 1
1-154573550-A-G c.1568T>C p.M523T Missense 2/15 - 1
1-154573561-A-G c.1557T>C p.C519= Synonymous 2/15 - 1
1-154573562-C-A c.1556G>T p.C519F Missense 2/15 - 1
1-154573565-G-A c.1553C>T p.T518I Missense 2/15 - 1
1-154573565-G-GT c.1552dup p.T518Nfs*3 Frameshift 2/15 - 1
1-154573569-G-A c.1549C>T p.Q517* Nonsense 2/15 - 2
1-154573569-TGA-T c.1548_1549del p.S516Rfs*4 Frameshift 2/15 - 1
1-154573574-GC-CA c.1543_1544delinsTG p.A515C Missense 2/15 - 1
1-154573575-C-A c.1543G>T p.A515S Missense 2/15 - 2
1-154573575-C-G c.1543G>C p.A515P Missense 2/15 - 1
1-154573576-G-A c.1542C>T p.F514= Synonymous 2/15 - 3
1-154573583-G-A c.1535C>T p.A512V Missense 2/15 - 1
1-154573584-C-G c.1534G>C p.A512P Missense 2/15 - 1
1-154573584-C-T c.1534G>A p.A512T Missense 2/15 - 1
1-154573586-T-C c.1532A>G p.Y511C Missense 2/15 - 1
1-154573590-C-G c.1528G>C p.E510Q Missense 2/15 - 1
1-154573591-T-C c.1527A>G p.L509= Synonymous 2/15 - 3
1-154573592-A-C c.1526T>G p.L509* Nonsense 2/15 - 1
1-154573592-A-T c.1526T>A p.L509* Nonsense 2/15 - 1
1-154573593-A-G c.1525T>C p.L509= Synonymous 2/15 - 1
1-154573596-G-A c.1522C>T p.L508= Synonymous 2/15 - 1
1-154573596-G-C c.1522C>G p.L508V Missense 2/15 - 1
1-154573597-C-A c.1521G>T p.G507= Synonymous 2/15 - 1
1-154573597-C-G c.1521G>C p.G507= Synonymous 2/15 - 1
1-154573597-C-T c.1521G>A p.G507= Synonymous 2/15 - 1
1-154573599-C-A c.1519G>T p.G507W Missense 2/15 - 1
1-154573599-C-G c.1519G>C p.G507R Missense 2/15 - 2
1-154573599-C-T c.1519G>A p.G507R Missense 2/15 - 2
1-154573605-T-C c.1513A>G p.I505V Missense 2/15 - 1
1-154573607-G-A c.1511C>T p.P504L Missense 2/15 - 3
1-154573608-G-A c.1510C>T p.P504S Missense 2/15 - 2
1-154573610-T-C c.1508A>G p.N503S Missense 2/15 - 1
1-154573622-CA-GT c.1495_1496delinsAC p.C499T Missense 2/15 - 1
1-154573625-T-C c.1493A>G p.E498G Missense 2/15 - 1
1-154573628-GT-CC c.1489_1490delinsGG p.T497G Missense 2/15 - 1
1-154573629-T-C c.1489A>G p.T497A Missense 2/15 - 1
1-154573630-C-A c.1488G>T p.L496= Synonymous 2/15 - 4
1-154573630-C-G c.1488G>C p.L496= Synonymous 2/15 - 3
1-154573630-C-T c.1488G>A p.L496= Synonymous 2/15 - 3
1-154573632-G-A c.1486C>T p.L496= Synonymous 2/15 - 3
1-154573640-T-C c.1478A>G p.Y493C Missense 2/15 - 1
1-154573642-G-A c.1476C>T p.P492= Synonymous 2/15 - 2
1-154573643-G-C c.1475C>G p.P492R Missense 2/15 - 1
1-154573644-G-A c.1474C>T p.P492S Missense 2/15 - 1
1-154573645-T-C c.1473A>G p.S491= Synonymous 2/15 - 1
1-154573647-A-C c.1471T>G p.S491A Missense 2/15 - 1
1-154573647-A-G c.1471T>C p.S491P Missense 2/15 - 2
1-154573649-C-CT c.1468_1469insA p.C490* Nonsense 2/15 - 1
1-154573650-CA-C c.1468del p.C490Vfs*7 Frameshift 2/15 - 2
1-154573652-C-G c.1466G>C p.R489P Missense 2/15 - 1
1-154573652-C-T c.1466G>A p.R489Q Missense 2/15 - 2
1-154573656-GGC-G c.1461_1462del p.L487Ffs*29 Frameshift 2/15 - 1
1-154573661-C-T c.1457G>A p.G486D Missense 2/15 - 1
1-154573662-C-A c.1456G>T p.G486C Missense 2/15 - 1
1-154573664-T-C c.1454A>G p.H485R Missense 2/15 - 1
1-154573668-T-C c.1450A>G p.S484G Missense 2/15 - 2
1-154573669-G-A c.1449C>T p.Y483= Synonymous 2/15 - 1
1-154573670-T-C c.1448A>G p.Y483C Missense 2/15 - 1
1-154573676-GA-AG c.1441_1442delinsCT p.S481L Missense 2/15 - 1
1-154573684-C-T c.1434G>A p.E478= Synonymous 2/15 - 1
1-154573686-C-T c.1432G>A p.E478K Missense 2/15 - 1
1-154573694-G-A c.1424C>T p.A475V Missense 2/15 - 1
1-154573695-C-A c.1423G>T p.A475S Missense 2/15 - 2
1-154573695-C-T c.1423G>A p.A475T Missense 2/15 - 2
1-154573697-C-A c.1421G>T p.R474L Missense 2/15 - 1
1-154573697-C-G c.1421G>C p.R474P Missense 2/15 - 1
1-154573697-CG-TT c.1420_1421delinsAA p.R474K Missense 2/15 - 1
1-154573697-C-T c.1421G>A p.R474Q Missense 2/15 - 1
1-154573698-G-A c.1420C>T p.R474* Nonsense 2/15 - 4
1-154573702-C-CT c.1415dup p.F473Vfs*44 Frameshift 2/15 - 1
1-154573706-C-T c.1412G>A p.G471D Missense 2/15 - 1
1-154573707-C-A c.1411G>T p.G471C Missense 2/15 - 1
1-154573710-G-A c.1408C>T p.P470S Missense 2/15 - 1
1-154573713-C-A c.1405G>T p.A469S Missense 2/15 - 1
1-154573713-C-T c.1405G>A p.A469T Missense 2/15 - 1
1-154573716-C-T c.1402G>A p.A468T Missense 2/15 - 4
1-154573718-C-T c.1400G>A p.R467H Missense 2/15 - 1
1-154573719-G-A c.1399C>T p.R467C Missense 2/15 - 1
1-154573726-A-G c.1392T>C p.N464= Synonymous 2/15 - 1
1-154573729-C-T c.1389G>A p.L463= Synonymous 2/15 - 2
1-154573727-TTCAAG-T c.1386_1390del p.D462Efs*2 Frameshift 2/15 - 1
1-154573731-A-G c.1387T>C p.L463= Synonymous 2/15 - 1
1-154573737-C-A c.1381G>T p.D461Y Missense 2/15 - 1
1-154573737-C-T c.1381G>A p.D461N Missense 2/15 - 3
1-154573739-G-A c.1379C>T p.P460L Missense 2/15 - 1
1-154573740-G-A c.1378C>T p.P460S Missense 2/15 - 2
1-154573740-G-T c.1378C>A p.P460T Missense 2/15 - 1
1-154573741-G-A c.1377C>T p.I459= Synonymous 2/15 - 2
1-154573746-C-CG c.1371_1372insC p.D458Rfs*5 Frameshift 2/15 - 1
1-154573746-C-G c.1372G>C p.D458H Missense 2/15 - 1
1-154573752-T-C c.1366A>G p.T456A Missense 2/15 - 2
1-154573755-C-T c.1363G>A p.A455T Missense 2/15 - 1
1-154573760-T-A c.1358A>T p.Q453L Missense 2/15 - 1
1-154573764-C-A c.1354G>T p.G452C Missense 2/15 - 1
1-154573764-C-G c.1354G>C p.G452R Missense 2/15 - 1
1-154573765-A-G c.1353T>C p.N451= Synonymous 2/15 - 1
1-154573765-A-T c.1353T>A p.N451K Missense 2/15 - 1
1-154573774-AGTC-A c.1342_1344del p.D448del InFrameDeletion 2/15 - 1
1-154573779-C-G c.1339G>C p.V447L Missense 2/15 - 1
1-154573784-C-A c.1334G>T p.G445V Missense 2/15 - 2
1-154573788-C-G c.1330G>C p.A444P Missense 2/15 - 1
1-154573793-GA-CC c.1324_1325delinsGG p.S442G Missense 2/15 - 1
1-154573793-G-C c.1325C>G p.S442* Nonsense 2/15 - 1
1-154573793-G-T c.1325C>A p.S442* Nonsense 2/15 - 1
1-154573795-G-A c.1323C>T p.P441= Synonymous 2/15 - 1
1-154573795-G-C c.1323C>G p.P441= Synonymous 2/15 - 1
1-154573795-G-T c.1323C>A p.P441= Synonymous 2/15 - 1
1-154573799-C-G c.1319G>C p.G440A Missense 2/15 - 1
1-154573799-C-T c.1319G>A p.G440D Missense 2/15 - 1
1-154573801-A-C c.1317T>G p.N439K Missense 2/15 - 7
1-154573801-A-T c.1317T>A p.N439K Missense 2/15 - 7
1-154573802-T-C c.1316A>G p.N439S Missense 2/15 - 1
1-154573803-T-C c.1315A>G p.N439D Missense 2/15 - 1
1-154573804-G-T c.1314C>A p.Y438* Nonsense 2/15 - 1
1-154573805-T-C c.1313A>G p.Y438C Missense 2/15 - 1
1-154573809-G-T c.1309C>A p.H437N Missense 2/15 - 1
1-154573814-G-A c.1304C>T p.P435L Missense 2/15 - 1
1-154573818-G-A c.1300C>T p.P434S Missense 2/15 - 2
1-154573818-G-C c.1300C>G p.P434A Missense 2/15 - 1
1-154573820-T-C c.1298A>G p.K433R Missense 2/15 - 1
1-154573822-TCAG-T c.1294_1296del p.L432del InFrameDeletion 2/15 - 1
1-154573823-A-T c.1295T>A p.L432Q Missense 2/15 - 3
1-154573824-G-C c.1294C>G p.L432V Missense 2/15 - 1
1-154573827-T-A c.1291A>T p.R431* Nonsense 2/15 - 1
1-154573830-C-T c.1288G>A p.A430T Missense 2/15 - 1
1-154573831-T-A c.1287A>T p.P429= Synonymous 2/15 - 1
1-154573831-T-C c.1287A>G p.P429= Synonymous 2/15 - 1
1-154573831-T-G c.1287A>C p.P429= Synonymous 2/15 - 1
1-154573836-C-G c.1282G>C p.E428Q Missense 2/15 - 1
1-154573836-C-T c.1282G>A p.E428K Missense 2/15 - 1
1-154573838-G-A c.1280C>T p.P427L Missense 2/15 - 1
1-154573845-C-T c.1273G>A p.A425T Missense 2/15 - 2
1-154573851-G-T c.1267C>A p.Q423K Missense 2/15 - 1
1-154573862-A-G c.1256T>C p.L419S Missense 2/15 - 1
1-154573865-T-C c.1253A>G p.K418R Missense 2/15 - 3
1-154573869-T-C c.1249A>G p.I417V Missense 2/15 - 1
1-154573873-A-C c.1245T>G p.P415= Synonymous 2/15 - 1
1-154573873-A-G c.1245T>C p.P415= Synonymous 2/15 - 1
1-154573873-A-T c.1245T>A p.P415= Synonymous 2/15 - 1
1-154573875-G-T c.1243C>A p.P415T Missense 2/15 - 1
1-154573877-T-G c.1241A>C p.E414A Missense 2/15 - 1
1-154573881-G-A c.1237C>T p.Q413* Nonsense 2/15 - 1
1-154573882-CCC-GCT c.1234_1236delinsAGC p.G412S Missense 2/15 - 1
1-154573899-C-T c.1219G>A p.E407K Missense 2/15 - 2
1-154573900-TG-CA c.1217_1218inv p.T406M Missense 2/15 - 1
1-154573904-G-C c.1214C>G p.T405S Missense 2/15 - 1
1-154573909-C-A c.1209G>T p.M403I Missense 2/15 - 1
1-154573909-C-G c.1209G>C p.M403I Missense 2/15 - 1
1-154573909-C-T c.1209G>A p.M403I Missense 2/15 - 1
1-154573912-GTTAT-G c.1202_1205del p.N401Tfs*3 Frameshift 2/15 - 1
1-154573925-T-C c.1193A>G p.N398S Missense 2/15 - 1
1-154573926-T-C c.1192A>G p.N398D Missense 2/15 - 1
1-154573933-G-C c.1185C>G p.P395= Synonymous 2/15 - 1
1-154573939-A-C c.1179T>G p.N393K Missense 2/15 - 1
1-154573939-A-T c.1179T>A p.N393K Missense 2/15 - 1
1-154573943-C-T c.1175G>A p.C392Y Missense 2/15 - 3
1-154573945-G-A c.1173C>T p.T391= Synonymous 2/15 - 1
1-154573949-AG-GC c.1168_1169delinsGC p.L390A Missense 2/15 - 1
1-154573954-C-A c.1164G>T p.E388D Missense 2/15 - 1
1-154573954-C-G c.1164G>C p.E388D Missense 2/15 - 1
1-154573956-C-G c.1162G>C p.E388Q Missense 2/15 - 1
1-154573958-G-C c.1160C>G p.A387G Missense 2/15 - 1
1-154573959-C-T c.1159G>A p.A387T Missense 2/15 - 3
1-154573961-T-C c.1157A>G p.N386S Missense 2/15 - 1
1-154573964-C-A c.1154G>T p.R385I Missense 2/15 - 1
1-154573964-CT-AG c.1153_1154inv p.R385L Missense 2/15 - 1
1-154573967-T-C c.1151A>G p.K384R Missense 2/15 - 63
1-154573969-GG-CA c.1148_1149delinsTG p.T383M Missense 2/15 - 1
1-154573970-G-A c.1148C>T p.T383I Missense 2/15 - 1
1-154573971-T-C c.1147A>G p.T383A Missense 2/15 - 1
1-154573976-G-T c.1142C>A p.P381H Missense 2/15 - 1
1-154573979-A-C c.1139T>G p.I380S Missense 2/15 - 1
1-154573980-T-C c.1138A>G p.I380V Missense 2/15 - 2
1-154573984-A-G c.1134T>C p.A378= Synonymous 2/15 - 1
1-154573986-C-A c.1132G>T p.A378S Missense 2/15 - 1
1-154573988-G-A c.1130C>T p.P377L Missense 2/15 - 1
1-154573988-G-T c.1130C>A p.P377Q Missense 2/15 - 1
1-154573989-G-C c.1129C>G p.P377A Missense 2/15 - 2
1-154573990-A-G c.1128T>C p.A376= Synonymous 2/15 - 1
1-154573991-G-C c.1127C>G p.A376G Missense 2/15 - 1
1-154573992-C-T c.1126G>A p.A376T Missense 2/15 - 2
1-154573993-G-A c.1125C>T p.T375= Synonymous 2/15 - 2
1-154573994-G-A c.1124C>T p.T375I Missense 2/15 - 2
1-154573994-G-C c.1124C>G p.T375S Missense 2/15 - 1
1-154573994-GT-CA c.1123_1124delinsTG p.T375C Missense 2/15 - 1
1-154573994-GT-CC c.1123_1124delinsGG p.T375G Missense 2/15 - 5
1-154573995-T-A c.1123A>T p.T375S Missense 2/15 - 1
1-154573997-T-C c.1121A>G p.E374G Missense 2/15 - 1
1-154573997-T-G c.1121A>C p.E374A Missense 2/15 - 1
1-154573998-C-T c.1120G>A p.E374K Missense 2/15 - 1
1-154574006-CT-AG c.1111_1112inv p.S371L Missense 2/15 - 2
1-154574010-T-C c.1108A>G p.N370D Missense 2/15 - 1
1-154574011-CG-GA c.1106_1107delinsTC p.T369I Missense 2/15 - 1
1-154574015-T-A c.1103A>T p.N368I Missense 2/15 - 1
1-154574018-C-A c.1100G>T p.R367I Missense 2/15 - 1
1-154574018-C-G c.1100G>C p.R367T Missense 2/15 - 1
1-154574019-T-TA c.1098_1099insT p.R367* Nonsense 2/15 - 1
1-154574028-G-A c.1090C>T p.Q364* Nonsense 2/15 - 1
1-154574033-C-T c.1085G>A p.R362K Missense 2/15 - 1
1-154574032-CCT-C c.1084_1085del p.R362Dfs*12 Frameshift 2/15 - 1
1-154574039-C-T c.1079G>A p.R360Q Missense 2/15 - 1
1-154574037-CTCGCT-C c.1076_1080del p.K359Rfs*14 Frameshift 2/15 - 4
1-154574040-G-A c.1078C>T p.R360* Nonsense 2/15 - 2
1-154574045-TTGTC-T c.1069_1072del p.D357Rfs*47 Frameshift 2/15 - 1
1-154574052-T-A c.1066A>T p.T356S Missense 2/15 - 1
1-154574052-T-C c.1066A>G p.T356A Missense 2/15 - 2
1-154574056-A-C c.1062T>G p.H354Q Missense 2/15 - 1
1-154574061-A-G c.1057T>C p.W353R Missense 2/15 - 1
1-154574061-A-T c.1057T>A p.W353R Missense 2/15 - 1
1-154574067-G-A c.1051C>T p.P351S Missense 2/15 - 1
1-154574069-G-A c.1049C>T p.P350L Missense 2/15 - 1
1-154574070-G-A c.1048C>T p.P350S Missense 2/15 - 1
1-154574072-G-A c.1046C>T p.T349I Missense 2/15 - 1
1-154574073-T-C c.1045A>G p.T349A Missense 2/15 - 1
1-154574076-T-C c.1042A>G p.T348A Missense 2/15 - 2
1-154574078-C-T c.1040G>A p.G347E Missense 2/15 - 1
1-154574079-C-T c.1039G>A p.G347R Missense 2/15 - 1
1-154574096-C-T c.1022G>A p.G341E Missense 2/15 - 2
1-154574100-G-C c.1018C>G p.Q340E Missense 2/15 - 1
1-154574102-C-A c.1016G>T p.R339M Missense 2/15 - 1
1-154574102-C-T c.1016G>A p.R339K Missense 2/15 - 1
1-154574106-C-CA c.1011_1012insT p.E338* Nonsense 2/15 - 1
1-154574106-C-T c.1012G>A p.E338K Missense 2/15 - 1
1-154574108-A-G c.1010T>C p.M337T Missense 2/15 - 1
1-154574110-G-C c.1008C>G p.D336E Missense 2/15 - 1
1-154574110-G-T c.1008C>A p.D336E Missense 2/15 - 1
1-154574111-T-G c.1007A>C p.D336A Missense 2/15 - 1
1-154574112-C-T c.1006G>A p.D336N Missense 2/15 - 1
1-154574114-AT-TA c.1003_1004delinsTA p.I335Y Missense 2/15 - 3
1-154574115-T-A c.1003A>T p.I335F Missense 2/15 - 1
1-154574117-A-G c.1001T>C p.L334P Missense 2/15 - 1
1-154574118-G-A c.1000C>T p.L334= Synonymous 2/15 - 1
1-154574119-CAC-GAT c.997_999delinsATC p.V333I Missense 2/15 - 1
1-154574120-A-C c.998T>G p.V333G Missense 2/15 - 1
1-154574123-G-A c.995C>T p.A332V Missense 2/15 - 1
1-154574129-A-G c.989T>C p.I330T Missense 2/15 - 2
1-154574133-C-CA c.984_985insT p.D329* Nonsense 2/15 - 1
1-154574135-C-T c.983G>A p.R328Q Missense 2/15 - 4
1-154574136-G-A c.982C>T p.R328* Nonsense 2/15 - 3
1-154574136-G-C c.982C>G p.R328G Missense 2/15 - 1
1-154574137-G-A c.981C>T p.A327= Synonymous 2/15 - 1
1-154574137-G-C c.981C>G p.A327= Synonymous 2/15 - 1
1-154574137-G-T c.981C>A p.A327= Synonymous 2/15 - 1
1-154574140-C-G c.978G>C p.K326N Missense 2/15 - 1
1-154574141-T-G c.977A>C p.K326T Missense 2/15 - 1
1-154574142-T-C c.976A>G p.K326E Missense 2/15 - 1
1-154574143-G-A c.975C>T p.T325= Synonymous 2/15 - 1
1-154574143-G-C c.975C>G p.T325= Synonymous 2/15 - 1
1-154574143-G-T c.975C>A p.T325= Synonymous 2/15 - 1
1-154574144-G-C c.974C>G p.T325S Missense 2/15 - 1
1-154574144-GT-CC c.973_974delinsGG p.T325G Missense 2/15 - 1
1-154574145-T-C c.973A>G p.T325A Missense 2/15 - 1
1-154574147-A-T c.971T>A p.L324H Missense 2/15 - 1
1-154574148-G-A c.970C>T p.L324F Missense 2/15 - 1
1-154574150-C-G c.968G>C p.G323A Missense 2/15 - 1
1-154574151-C-A c.967G>T p.G323C Missense 2/15 - 1
1-154574156-T-C c.962A>G p.N321S Missense 2/15 - 1
1-154574160-T-C c.958A>G p.K320E Missense 2/15 - 2
1-154574162-G-T c.956C>A p.A319D Missense 2/15 - 2
1-154574163-C-A c.955G>T p.A319S Missense 2/15 - 4
1-154574163-C-T c.955G>A p.A319T Missense 2/15 - 1
1-154574169-T-C c.949A>G p.N317D Missense 2/15 - 2
1-154574170-C-A c.948G>T p.L316= Synonymous 2/15 - 2
1-154574170-C-G c.948G>C p.L316= Synonymous 2/15 - 1
1-154574170-C-T c.948G>A p.L316= Synonymous 2/15 - 1
1-154574172-G-A c.946C>T p.L316= Synonymous 2/15 - 1
1-154574172-G-C c.946C>G p.L316V Missense 2/15 - 1
1-154574173-G-GCCACCAAACAGCACTGCTCACAAATCA c.944_945insTGATTTGTGAGCAGTGCTGTTTGGTGG p.A315_L316insDL* Frameshift 2/15 - 1
1-154574174-G-C c.944C>G p.A315G Missense 2/15 - 1
1-154574175-C-A c.943G>T p.A315S Missense 2/15 - 1
1-154574175-C-T c.943G>A p.A315T Missense 2/15 - 1
1-154574177-G-A c.941C>T p.S314F Missense 2/15 - 1
1-154574179-G-A c.939C>T p.S313= Synonymous 2/15 - 1
1-154574179-G-C c.939C>G p.S313= Synonymous 2/15 - 1
1-154574179-G-T c.939C>A p.S313= Synonymous 2/15 - 1
1-154574180-GA-TC c.937_938inv p.S313D Missense 2/15 - 1
1-154574180-G-T c.938C>A p.S313Y Missense 2/15 - 1
1-154574181-A-C c.937T>G p.S313A Missense 2/15 - 1
1-154574184-C-T c.934G>A p.D312N Missense 2/15 - 3
1-154574188-C-T c.930G>A p.V310= Synonymous 2/15 - 1
1-154574190-C-A c.928G>T p.V310L Missense 2/15 - 1
1-154574190-C-G c.928G>C p.V310L Missense 2/15 - 1
1-154574190-C-T c.928G>A p.V310M Missense 2/15 - 1
1-154574192-T-A c.926A>T p.N309I Missense 2/15 - 5
1-154574196-A-T c.922T>A p.F308I Missense 2/15 - 1
1-154574201-T-C c.917A>G p.Y306C Missense 2/15 - 1
1-154574202-A-G c.916T>C p.Y306H Missense 2/15 - 2
1-154574206-G-A c.912C>T p.C304= Synonymous 2/15 - 2
1-154574209-G-C c.909C>G p.I303M Missense 2/15 - 2
1-154574215-C-A c.903G>T p.E301D Missense 2/15 - 1
1-154574215-C-G c.903G>C p.E301D Missense 2/15 - 1
1-154574218-C-G c.900G>C p.K300N Missense 2/15 - 1
1-154574220-T-C c.898A>G p.K300E Missense 2/15 - 1
1-154574226-C-T c.892G>A p.E298K Missense 2/15 - 3
1-154574232-T-A c.886A>T p.M296L Missense 2/15 - 3
1-154574232-T-G c.886A>C p.M296L Missense 2/15 - 3
1-154574246-A-G c.872T>C p.L291P Missense 2/15 - 2
1-154574247-G-T c.871C>A p.L291I Missense 2/15 - 1
1-154574249-G-C c.869C>G p.P290R Missense 2/15 - 1
1-154574250-G-A c.868C>T p.P290S Missense 2/15 - 1
1-154574250-G-C c.868C>G p.P290A Missense 2/15 - 1
1-154574252-T-C c.866A>G p.D289G Missense 2/15 - 1
1-154574253-C-G c.865G>C p.D289H Missense 2/15 - 2
1-154574254-T-A c.864A>T p.E288D Missense 2/15 - 1
1-154574254-T-G c.864A>C p.E288D Missense 2/15 - 1
1-154574256-C-T c.862G>A p.E288K Missense 2/15 - 1
1-154574260-AGGC-A c.856_858del p.A286del InFrameDeletion 2/15 - 2
1-154574262-C-T c.856G>A p.A286T Missense 2/15 - 1
1-154574262-C-CA c.855dup p.A286Cfs*7 Frameshift 2/15 - 1
1-154574264-G-A c.854C>T p.S285F Missense 2/15 - 2
1-154574268-T-C c.850A>G p.T284A Missense 2/15 - 2
1-154574270-GA-CC c.847_848delinsGG p.S283G Missense 2/15 - 1
1-154574275-G-A c.843C>T p.S281= Synonymous 2/15 - 1
1-154574277-T-C c.841A>G p.S281G Missense 2/15 - 1
1-154574280-C-T c.838G>A p.D280N Missense 2/15 - 1
1-154574281-T-A c.837A>T p.E279D Missense 2/15 - 1
1-154574281-T-G c.837A>C p.E279D Missense 2/15 - 1
1-154574287-T-A c.831A>T p.E277D Missense 2/15 - 1
1-154574287-T-G c.831A>C p.E277D Missense 2/15 - 1
1-154574294-C-A c.824G>T p.G275V Missense 2/15 - 1
1-154574295-C-A c.823G>T p.G275C Missense 2/15 - 2
1-154574295-C-T c.823G>A p.G275S Missense 2/15 - 2
1-154574298-G-A c.820C>T p.P274S Missense 2/15 - 1
1-154574298-G-T c.820C>A p.P274T Missense 2/15 - 1
1-154574300-T-A c.818A>T p.D273V Missense 2/15 - 1
1-154574302-TG-AC c.815_816delinsGT p.S272C Missense 2/15 - 1
1-154574303-G-A c.815C>T p.S272L Missense 2/15 - 1
1-154574308-T-C c.810A>G p.P270= Synonymous 2/15 - 1
1-154574311-G-A c.807C>T p.S269= Synonymous 2/15 - 1
1-154574313-A-C c.805T>G p.S269A Missense 2/15 - 2
1-154574313-A-T c.805T>A p.S269T Missense 2/15 - 1
1-154574314-T-A c.804A>T p.G268= Synonymous 2/15 - 1
1-154574314-T-C c.804A>G p.G268= Synonymous 2/15 - 1
1-154574314-T-G c.804A>C p.G268= Synonymous 2/15 - 1
1-154574315-C-G c.803G>C p.G268A Missense 2/15 - 2
1-154574320-G-C c.798C>G p.S266R Missense 2/15 - 1
1-154574320-G-T c.798C>A p.S266R Missense 2/15 - 1
1-154574322-T-G c.796A>C p.S266R Missense 2/15 - 1
1-154574324-T-C c.794A>G p.H265R Missense 2/15 - 1
1-154574326-A-G c.792T>C p.S264= Synonymous 2/15 - 1
1-154574327-C-T c.791G>A p.S264N Missense 2/15 - 1
1-154574328-T-C c.790A>G p.S264G Missense 2/15 - 1
1-154574329-G-A c.789C>T p.D263= Synonymous 2/15 - 1
1-154574330-T-C c.788A>G p.D263G Missense 2/15 - 1
1-154574337-T-C c.781A>G p.R261G Missense 2/15 - 1
1-154574339-A-AG c.778_779insC p.V260Afs*7 Frameshift 2/15 - 1
1-154574345-C-A c.773G>T p.G258V Missense 2/15 - 2
1-154574346-C-G c.772G>C p.G258R Missense 2/15 - 1
1-154574346-C-T c.772G>A p.G258R Missense 2/15 - 2
1-154574347-G-A c.771C>T p.S257= Synonymous 2/15 - 3
1-154574347-GCT-CTC c.769_771delinsGAG p.S257E Missense 2/15 - 1
1-154574348-CT-AG c.769_770inv p.S257L Missense 2/15 - 1
1-154574353-C-T c.765G>A p.Q255= Synonymous 2/15 - 1
1-154574354-T-G c.764A>C p.Q255P Missense 2/15 - 1
1-154574361-A-C c.757T>G p.W253G Missense 2/15 - 1
1-154574369-G-A c.749C>T p.A250V Missense 2/15 - 3
1-154574369-G-T c.749C>A p.A250D Missense 2/15 - 1
1-154574376-C-T c.742G>A p.V248I Missense 2/15 - 1
1-154574378-G-C c.740C>G p.A247G Missense 2/15 - 1
1-154574379-C-T c.739G>A p.A247T Missense 2/15 - 2
1-154574381-A-C c.737T>G p.I246S Missense 2/15 - 1
1-154574384-A-G c.734T>C p.F245S Missense 2/15 - 1
1-154574388-G-A c.730C>T p.P244S Missense 2/15 - 1
1-154574391-C-CA c.726dup p.E243* Nonsense 2/15 - 2
1-154574396-AG-CA c.721_722delinsTG p.L241C Missense 2/15 - 1
1-154574396-AG-GC c.721_722delinsGC p.L241A Missense 2/15 - 1
1-154574396-A-T c.722T>A p.L241H Missense 2/15 - 1
1-154574397-G-A c.721C>T p.L241F Missense 2/15 - 1
1-154574400-C-G c.718G>C p.D240H Missense 2/15 - 1
1-154574408-A-G c.710T>C p.V237A Missense 2/15 - 3
1-154574411-GA-CG c.706_707delinsCG p.S236R Missense 2/15 - 1
1-154574411-G-C c.707C>G p.S236C Missense 2/15 - 1
1-154574413-T-G c.705A>C p.T235= Synonymous 2/15 - 1
1-154574415-T-C c.703A>G p.T235A Missense 2/15 - 1
1-154574418-A-G c.700T>C p.S234P Missense 2/15 - 1
1-154574422-T-G c.696A>C p.R232S Missense 2/15 - 1
1-154574423-C-A c.695G>T p.R232I Missense 2/15 - 1
1-154574423-C-T c.695G>A p.R232K Missense 2/15 - 3
1-154574427-C-T c.691G>A p.D231N Missense 2/15 - 1
1-154574431-C-A c.687G>T p.P229= Synonymous 2/15 - 2
1-154574431-C-G c.687G>C p.P229= Synonymous 2/15 - 1
1-154574431-C-T c.687G>A p.P229= Synonymous 2/15 - 2
1-154574432-G-A c.686C>T p.P229L Missense 2/15 - 2
1-154574433-G-A c.685C>T p.P229S Missense 2/15 - 1
1-154574433-GGT-G c.684_685del p.E228Dfs*15 Frameshift 2/15 - 1
1-154574435-T-C c.683A>G p.E228G Missense 2/15 - 1
1-154574436-C-A c.682G>T p.E228* Nonsense 2/15 - 1
1-154574438-A-T c.680T>A p.L227* Nonsense 2/15 - 1
1-154574441-CT-GG c.676_677delinsCC p.S226P Missense 2/15 - 1
1-154574442-T-TA c.675_676insT p.S226* Nonsense 2/15 - 1
1-154574443-C-A c.675G>T p.P225= Synonymous 2/15 - 1
1-154574443-C-G c.675G>C p.P225= Synonymous 2/15 - 1
1-154574443-C-T c.675G>A p.P225= Synonymous 2/15 - 1
1-154574444-G-A c.674C>T p.P225L Missense 2/15 - 5
1-154574445-G-C c.673C>G p.P225A Missense 2/15 - 1
1-154574445-G-T c.673C>A p.P225T Missense 2/15 - 3
1-154574447-T-C c.671A>G p.D224G Missense 2/15 - 1
1-154574449-T-A c.669A>T p.S223= Synonymous 2/15 - 1
1-154574449-T-C c.669A>G p.S223= Synonymous 2/15 - 1
1-154574449-T-G c.669A>C p.S223= Synonymous 2/15 - 1
1-154574449-TGA-GTT c.667_669delinsAAC p.S223N Missense 2/15 - 1
1-154574450-G-A c.668C>T p.S223L Missense 2/15 - 1
1-154574450-GA-CC c.667_668delinsGG p.S223G Missense 2/15 - 1
1-154574450-G-C c.668C>G p.S223* Nonsense 2/15 - 2
1-154574450-G-T c.668C>A p.S223* Nonsense 2/15 - 1
1-154574452-G-C c.666C>G p.N222K Missense 2/15 - 1
1-154574452-G-T c.666C>A p.N222K Missense 2/15 - 1
1-154574453-T-A c.665A>T p.N222I Missense 2/15 - 1
1-154574454-T-C c.664A>G p.N222D Missense 2/15 - 1
1-154574457-G-A c.661C>T p.P221S Missense 2/15 - 1
1-154574459-G-A c.659C>T p.A220V Missense 2/15 - 2
1-154574460-C-A c.658G>T p.A220S Missense 2/15 - 2
1-154574462-C-A c.656G>T p.G219V Missense 2/15 - 1
1-154574462-C-G c.656G>C p.G219A Missense 2/15 - 2
1-154574462-C-T c.656G>A p.G219E Missense 2/15 - 1
1-154574463-C-T c.655G>A p.G219R Missense 2/15 - 1
1-154574465-T-C c.653A>G p.Q218R Missense 2/15 - 1
1-154574467-G-A c.651C>T p.S217= Synonymous 2/15 - 1
1-154574468-C-T c.650G>A p.S217N Missense 2/15 - 3
1-154574452-G-GTTTGGGGCTCCTTGGCTCC c.665_666insGGAGCCAAGGAGCCCCAAA p.N222Kfs*28 Frameshift 2/15 - 1
1-154574474-C-T c.644G>A p.G215D Missense 2/15 - 2
1-154574475-C-G c.643G>C p.G215R Missense 2/15 - 2
1-154574475-C-T c.643G>A p.G215S Missense 2/15 - 4
1-154574478-C-G c.640G>C p.D214H Missense 2/15 - 1
1-154574478-C-T c.640G>A p.D214N Missense 2/15 - 2
1-154574480-G-C c.638C>G p.P213R Missense 2/15 - 1
1-154574479-TG-T c.638del p.P213Qfs*48 Frameshift 2/15 - 1
1-154574482-T-C c.636A>G p.R212= Synonymous 2/15 - 1
1-154574483-C-A c.635G>T p.R212I Missense 2/15 - 1
1-154574483-C-T c.635G>A p.R212K Missense 2/15 - 1
1-154574490-C-A c.628G>T p.V210L Missense 2/15 - 2
1-154574490-C-G c.628G>C p.V210L Missense 2/15 - 1
1-154574492-C-T c.626G>A p.G209E Missense 2/15 - 1
1-154574493-C-T c.625G>A p.G209R Missense 2/15 - 1
1-154574495-CT-AG c.622_623inv p.S208L Missense 2/15 - 1
1-154574502-G-T c.616C>A p.Q206K Missense 2/15 - 1
1-154574505-T-TA c.612_613insT p.N205* Nonsense 2/15 - 1
1-154574506-C-T c.612G>A p.W204* Nonsense 2/15 - 1
1-154574507-C-A c.611G>T p.W204L Missense 2/15 - 1
1-154574519-G-A c.599C>T p.S200F Missense 2/15 - 1
1-154574523-C-T c.595G>A p.V199I Missense 2/15 - 1
1-154574524-C-A c.594G>T p.A198= Synonymous 2/15 - 1
1-154574524-C-G c.594G>C p.A198= Synonymous 2/15 - 1
1-154574524-C-T c.594G>A p.A198= Synonymous 2/15 - 3
1-154574526-C-T c.592G>A p.A198T Missense 2/15 - 1
1-154574527-G-A c.591C>T p.I197= Synonymous 2/15 - 3
1-154574533-CC-AA c.584_585delinsTT p.W195F Missense 2/15 - 2
1-154574534-CA-GC c.583_584delinsGC p.W195A Missense 2/15 - 2
1-154574540-G-A c.578C>T p.P193L Missense 2/15 - 2
1-154574541-G-C c.577C>G p.P193A Missense 2/15 - 62
1-154574541-G-T c.577C>A p.P193T Missense 2/15 - 4
1-154574543-G-A c.575C>T p.P192L Missense 2/15 - 1
1-154574544-G-A c.574C>T p.P192S Missense 2/15 - 2
1-154574544-G-C c.574C>G p.P192A Missense 2/15 - 3
1-154574545-T-A c.573A>T p.T191= Synonymous 2/15 - 1
1-154574545-T-C c.573A>G p.T191= Synonymous 2/15 - 1
1-154574545-T-G c.573A>C p.T191= Synonymous 2/15 - 1
1-154574546-G-T c.572C>A p.T191K Missense 2/15 - 1
1-154574547-T-A c.571A>T p.T191S Missense 2/15 - 1
1-154574547-T-C c.571A>G p.T191A Missense 2/15 - 1
1-154574549-C-A c.569G>T p.G190V Missense 2/15 - 1
1-154574549-C-G c.569G>C p.G190A Missense 2/15 - 1
1-154574552-G-A c.566C>T p.A189V Missense 2/15 - 1
1-154574556-C-T c.562G>A p.E188K Missense 2/15 - 4
1-154574558-TTTCTGTAGCTTG-T c.549_560del p.K184_K187del InFrameDeletion 2/15 - 2
1-154574561-T-C c.557A>G p.Q186R Missense 2/15 - 1
1-154574561-T-G c.557A>C p.Q186P Missense 2/15 - 1
1-154574562-G-A c.556C>T p.Q186* Nonsense 2/15 - 2
1-154574566-C-T c.552G>A p.K184= Synonymous 2/15 - 1
1-154574568-T-C c.550A>G p.K184E Missense 2/15 - 1
1-154574571-C-T c.547G>A p.G183S Missense 2/15 - 3
1-154574575-C-A c.543G>T p.K181N Missense 2/15 - 1
1-154574575-C-G c.543G>C p.K181N Missense 2/15 - 1
1-154574578-T-A c.540A>T p.A180= Synonymous 2/15 - 1
1-154574578-T-C c.540A>G p.A180= Synonymous 2/15 - 1
1-154574578-T-G c.540A>C p.A180= Synonymous 2/15 - 1
1-154574579-G-A c.539C>T p.A180V Missense 2/15 - 1
1-154574581-C-A c.537G>T p.L179= Synonymous 2/15 - 1
1-154574581-C-G c.537G>C p.L179= Synonymous 2/15 - 1
1-154574581-C-T c.537G>A p.L179= Synonymous 2/15 - 1
1-154574583-G-A c.535C>T p.L179= Synonymous 2/15 - 1
1-154574582-A-G c.536T>C p.L179P Missense 2/15 - 1
1-154574584-G-A c.534C>T p.S178= Synonymous 2/15 - 2
1-154574584-G-C c.534C>G p.S178= Synonymous 2/15 - 2
1-154574584-G-T c.534C>A p.S178= Synonymous 2/15 - 2
1-154574585-G-A c.533C>T p.S178F Missense 2/15 - 3
1-154574587-G-A c.531C>T p.Y177= Synonymous 2/15 - 1
1-154574588-T-A c.530A>T p.Y177F Missense 2/15 - 3
1-154574588-TA-AT c.529_530delinsAT p.Y177I Missense 2/15 - 1
1-154574588-TA-GC c.529_530delinsGC p.Y177A Missense 2/15 - 9
1-154574591-AA-GC c.526_527delinsGC p.L176A Missense 2/15 - 1
1-154574595-C-T c.523G>A p.V175I Missense 2/15 - 1
1-154574597-CG-GC c.520_521delinsGC p.R174A Missense 2/15 - 1
1-154574598-G-A c.520C>T p.R174* Nonsense 2/15 - 2
1-154574599-A-C c.519T>G p.N173K Missense 2/15 - 1
1-154574599-A-G c.519T>C p.N173= Synonymous 2/15 - 2
1-154574600-T-C c.518A>G p.N173S Missense 2/15 - 14
1-154574600-TT-GC c.517_518delinsGC p.N173A Missense 2/15 - 10
1-154574604-T-A c.514A>T p.I172F Missense 2/15 - 1
1-154574604-T-C c.514A>G p.I172V Missense 2/15 - 1
1-154574606-T-G c.512A>C p.E171A Missense 2/15 - 1
1-154574608-TT-GC c.509_510delinsGC p.K170S Missense 2/15 - 1
1-154574609-TT-GC c.508_509delinsGC p.K170A Missense 2/15 - 1
1-154574612-TT-GC c.505_506delinsGC p.K169A Missense 2/15 - 2
1-154574615-G-A c.503C>T p.P168L Missense 2/15 - 2
1-154574616-G-T c.502C>A p.P168T Missense 2/15 - 1
1-154574619-T-A c.499A>T p.T167S Missense 2/15 - 1
1-154574619-T-C c.499A>G p.T167A Missense 2/15 - 1
1-154574621-C-G c.497G>C p.G166A Missense 2/15 - 1
1-154574624-A-T c.494T>A p.L165H Missense 2/15 - 2
1-154574627-T-C c.491A>G p.K164R Missense 2/15 - 1
1-154574628-T-A c.490A>T p.K164* Nonsense 2/15 - 1
1-154574633-GA-CC c.484_485delinsGG p.S162G Missense 2/15 - 1
1-154574634-A-C c.484T>G p.S162A Missense 2/15 - 1
1-154574634-A-T c.484T>A p.S162T Missense 2/15 - 1
1-154574638-A-G c.480T>C p.D160= Synonymous 2/15 - 1
1-154574640-C-T c.478G>A p.D160N Missense 2/15 - 3
1-154574643-G-C c.475C>G p.H159D Missense 2/15 - 1
1-154574645-G-A c.473C>T p.A158V Missense 2/15 - 1
1-154574645-G-C c.473C>G p.A158G Missense 2/15 - 1
1-154574648-G-T c.470C>A p.T157K Missense 2/15 - 1
1-154574649-T-C c.469A>G p.T157A Missense 2/15 - 1
1-154574650-G-A c.468C>T p.T156= Synonymous 2/15 - 1
1-154574651-G-A c.467C>T p.T156I Missense 2/15 - 1
1-154574654-G-C c.464C>G p.A155G Missense 2/15 - 1
1-154574656-C-T c.462G>A p.K154= Synonymous 2/15 - 2
1-154574657-TT-GC c.460_461delinsGC p.K154A Missense 2/15 - 1
1-154574660-C-T c.458G>A p.G153E Missense 2/15 - 1
1-154574666-C-G c.452G>C p.G151A Missense 2/15 - 1
1-154574666-C-T c.452G>A p.G151E Missense 2/15 - 1
1-154574673-C-A c.445G>T p.E149* Nonsense 2/15 - 1
1-154574673-C-G c.445G>C p.E149Q Missense 2/15 - 1
1-154574673-C-T c.445G>A p.E149K Missense 2/15 - 1
1-154574677-C-A c.441G>T p.L147= Synonymous 2/15 - 1
1-154574677-CAG-AAA c.439_441delinsTTT p.L147F Missense 2/15 - 1
1-154574677-C-G c.441G>C p.L147= Synonymous 2/15 - 1
1-154574677-C-T c.441G>A p.L147= Synonymous 2/15 - 1
1-154574679-G-A c.439C>T p.L147= Synonymous 2/15 - 1
1-154574680-G-A c.438C>T p.F146= Synonymous 2/15 - 3
1-154574686-T-C c.432A>G p.L144= Synonymous 2/15 - 1
1-154574687-A-C c.431T>G p.L144* Nonsense 2/15 - 1
1-154574687-A-T c.431T>A p.L144* Nonsense 2/15 - 2
1-154574691-T-A c.427A>T p.I143F Missense 2/15 - 2
1-154574693-C-T c.425G>A p.R142K Missense 2/15 - 1
1-154574693-CT-TG c.424_425delinsCA p.R142Q Missense 2/15 - 1
1-154574696-T-C c.422A>G p.Q141R Missense 2/15 - 2
1-154574699-T-G c.419A>C p.E140A Missense 2/15 - 1
1-154574700-C-T c.418G>A p.E140K Missense 2/15 - 1
1-154574701-C-T c.417G>A p.Q139= Synonymous 2/15 - 1
1-154574702-T-G c.416A>C p.Q139P Missense 2/15 - 1
1-154574703-G-C c.415C>G p.Q139E Missense 2/15 - 1
1-154574706-C-A c.412G>T p.D138Y Missense 2/15 - 3
1-154574706-C-T c.412G>A p.D138N Missense 2/15 - 1
1-154574709-G-C c.409C>G p.Q137E Missense 2/15 - 1
1-154574713-G-T c.405C>A p.I135= Synonymous 2/15 - 1
1-154574714-AT-GC c.403_404delinsGC p.I135A Missense 2/15 - 2
1-154574720-AG-GA c.397_398delinsTC p.L133S Missense 2/15 - 1
1-154574720-A-T c.398T>A p.L133Q Missense 2/15 - 1
1-154574723-T-C c.395A>G p.E132G Missense 2/15 - 1
1-154574723-T-G c.395A>C p.E132A Missense 2/15 - 1
1-154574724-C-A c.394G>T p.E132* Nonsense 2/15 - 1
1-154574724-C-T c.394G>A p.E132K Missense 2/15 - 1
1-154574725-C-T c.393G>A p.Q131= Synonymous 2/15 - 2
1-154574726-T-C c.392A>G p.Q131R Missense 2/15 - 1
1-154574728-G-C c.390C>G p.F130L Missense 2/15 - 3
1-154574728-G-T c.390C>A p.F130L Missense 2/15 - 3
1-154574730-A-G c.388T>C p.F130L Missense 2/15 - 3
1-154574731-A-C c.387T>G p.H129Q Missense 2/15 - 1
1-154574731-A-T c.387T>A p.H129Q Missense 2/15 - 1
1-154574734-T-A c.384A>T p.S128= Synonymous 2/15 - 1
1-154574734-T-C c.384A>G p.S128= Synonymous 2/15 - 1
1-154574734-T-G c.384A>C p.S128= Synonymous 2/15 - 1
1-154574736-A-G c.382T>C p.S128P Missense 2/15 - 4
1-154574741-A-G c.377T>C p.L126P Missense 2/15 - 2
1-154574743-G-A c.375C>T p.C125= Synonymous 2/15 - 1
1-154574744-C-A c.374G>T p.C125F Missense 2/15 - 1
1-154574744-CA-GT c.373_374delinsAC p.C125T Missense 2/15 - 1
1-154574747-T-G c.371A>C p.D124A Missense 2/15 - 1
1-154574748-C-T c.370G>A p.D124N Missense 2/15 - 1
1-154574754-C-A c.364G>T p.G122C Missense 2/15 - 1
1-154574756-C-T c.362G>A p.R121K Missense 2/15 - 1
1-154574756-CT-TG c.361_362delinsCA p.R121Q Missense 2/15 - 1
1-154574758-C-A c.360G>T p.Q120H Missense 2/15 - 1
1-154574758-C-G c.360G>C p.Q120H Missense 2/15 - 1
1-154574759-T-C c.359A>G p.Q120R Missense 2/15 - 1
1-154574762-G-A c.356C>T p.P119L Missense 2/15 - 1
1-154574763-G-A c.355C>T p.P119S Missense 2/15 - 3
1-154574765-A-AG c.352dup p.L118Pfs*7 Frameshift 2/15 - 1
1-154574768-C-G c.350G>C p.S117T Missense 2/15 - 1
1-154574769-T-C c.349A>G p.S117G Missense 2/15 - 1
1-154574770-C-A c.348G>T p.R116S Missense 2/15 - 1
1-154574770-C-G c.348G>C p.R116S Missense 2/15 - 2
1-154574769-TC-T c.348del p.S117Vfs*17 Frameshift 2/15 - 1
1-154574771-C-T c.347G>A p.R116K Missense 2/15 - 2
1-154574774-C-G c.344G>C p.G115A Missense 2/15 - 1
1-154574777-C-T c.341G>A p.R114H Missense 2/15 - 6
1-154574778-G-A c.340C>T p.R114C Missense 2/15 - 2
1-154574779-T-A c.339A>T p.P113= Synonymous 2/15 - 1
1-154574779-T-C c.339A>G p.P113= Synonymous 2/15 - 1
1-154574779-T-G c.339A>C p.P113= Synonymous 2/15 - 1
1-154574780-G-A c.338C>T p.P113L Missense 2/15 - 1
1-154574781-G-A c.337C>T p.P113S Missense 2/15 - 1
1-154574782-T-A c.336A>T p.S112= Synonymous 2/15 - 1
1-154574782-T-C c.336A>G p.S112= Synonymous 2/15 - 1
1-154574782-T-G c.336A>C p.S112= Synonymous 2/15 - 1
1-154574787-G-A c.331C>T p.P111S Missense 2/15 - 1
1-154574789-T-C c.329A>G p.H110R Missense 2/15 - 2
1-154574790-G-A c.328C>T p.H110Y Missense 2/15 - 1
1-154574795-AA-GC c.322_323delinsGC p.F108A Missense 2/15 - 1
1-154574794-G-C c.324C>G p.F108L Missense 2/15 - 1
1-154574794-G-T c.324C>A p.F108L Missense 2/15 - 1
1-154574796-A-G c.322T>C p.F108L Missense 2/15 - 1
1-154574797-CCC-GCT c.319_321delinsAGC p.G107S Missense 2/15 - 2
1-154574798-C-T c.320G>A p.G107E Missense 2/15 - 2
1-154574799-C-G c.319G>C p.G107R Missense 2/15 - 1
1-154574799-C-T c.319G>A p.G107R Missense 2/15 - 1
1-154574800-T-A c.318A>T p.R106S Missense 2/15 - 2
1-154574800-TCT-CCA c.316_318delinsTGG p.R106W Missense 2/15 - 1
1-154574800-T-G c.318A>C p.R106S Missense 2/15 - 2
1-154574801-C-T c.317G>A p.R106K Missense 2/15 - 4
1-154574801-CT-TG c.316_317delinsCA p.R106Q Missense 2/15 - 10
1-154574803-C-G c.315G>C p.Q105H Missense 2/15 - 2
1-154574804-T-C c.314A>G p.Q105R Missense 2/15 - 1
1-154574805-G-A c.313C>T p.Q105* Nonsense 2/15 - 1
1-154574806-G-A c.312C>T p.L104= Synonymous 2/15 - 1
1-154574808-G-A c.310C>T p.L104F Missense 2/15 - 3
1-154574809-C-A c.309G>T p.G103= Synonymous 2/15 - 1
1-154574809-C-G c.309G>C p.G103= Synonymous 2/15 - 1
1-154574809-C-T c.309G>A p.G103= Synonymous 2/15 - 1
1-154574810-C-T c.308G>A p.G103E Missense 2/15 - 1
1-154574811-C-G c.307G>C p.G103R Missense 2/15 - 2
1-154574811-C-T c.307G>A p.G103R Missense 2/15 - 2
1-154574812-C-A c.306G>T p.Q102H Missense 2/15 - 1
1-154574812-CCT-C c.305_306del p.Q102Rfs*22 Frameshift 2/15 - 2
1-154574812-C-G c.306G>C p.Q102H Missense 2/15 - 1
1-154574812-C-T c.306G>A p.Q102= Synonymous 2/15 - 1
1-154574816-ACT-A c.301_302del p.Q102Gfs*22 Frameshift 2/15 - 1
1-154574816-C-T c.302G>A p.S101N Missense 2/15 - 2
1-154574817-T-C c.301A>G p.S101G Missense 2/15 - 2
1-154574819-C-G c.299G>C p.R100T Missense 2/15 - 1
1-154574819-C-T c.299G>A p.R100K Missense 2/15 - 1
1-154574820-T-C c.298A>G p.R100G Missense 2/15 - 37
1-154574821-G-GA c.296dup p.R100Qfs*25 Frameshift 2/15 - 1
1-154574822-A-C c.296T>G p.L99R Missense 2/15 - 1
1-154574822-A-G c.296T>C p.L99P Missense 2/15 - 1
1-154574823-G-A c.295C>T p.L99F Missense 2/15 - 1
1-154574826-G-A c.292C>T p.H98Y Missense 2/15 - 1
1-154574826-G-C c.292C>G p.H98D Missense 2/15 - 1
1-154574829-C-T c.289G>A p.V97M Missense 2/15 - 2
1-154574830-G-A c.288C>T p.G96= Synonymous 2/15 - 1
1-154574831-C-G c.287G>C p.G96A Missense 2/15 - 1
1-154574831-C-T c.287G>A p.G96D Missense 2/15 - 1
1-154574833-C-A c.285G>T p.R95S Missense 2/15 - 2
1-154574833-C-G c.285G>C p.R95S Missense 2/15 - 2
1-154574833-C-T c.285G>A p.R95= Synonymous 2/15 - 1
1-154574835-T-G c.283A>C p.R95= Synonymous 2/15 - 1
1-154574834-CT-GC c.283_284delinsGC p.R95A Missense 2/15 - 1
1-154574835-T-C c.283A>G p.R95G Missense 2/15 - 1
1-154574839-G-A c.279C>T p.V93= Synonymous 2/15 - 1
1-154574839-G-C c.279C>G p.V93= Synonymous 2/15 - 1
1-154574839-G-T c.279C>A p.V93= Synonymous 2/15 - 1
1-154574841-C-T c.277G>A p.V93I Missense 2/15 - 1
1-154574843-C-A c.275G>T p.G92V Missense 2/15 - 1
1-154574843-CC-GG c.274_275inv p.G92P Missense 2/15 - 1
1-154574844-C-A c.274G>T p.G92C Missense 2/15 - 2
1-154574844-C-G c.274G>C p.G92R Missense 2/15 - 1
1-154574844-C-T c.274G>A p.G92S Missense 2/15 - 1
1-154574845-C-A c.273G>T p.R91S Missense 2/15 - 1
1-154574845-C-G c.273G>C p.R91S Missense 2/15 - 1
1-154574846-CCT-C c.271_272del p.R91Gfs*33 Frameshift 2/15 - 2
1-154574846-C-T c.272G>A p.R91K Missense 2/15 - 2
1-154574849-A-C c.269T>G p.I90S Missense 2/15 - 3
1-154574852-T-C c.266A>G p.D89G Missense 2/15 - 3
1-154574852-T-G c.266A>C p.D89A Missense 2/15 - 1
1-154574854-C-T c.264G>A p.V88= Synonymous 2/15 - 1
1-154574855-CA-C c.263del p.V88Gfs*46 Frameshift 2/15 - 1
1-154574856-C-T c.262G>A p.V88M Missense 2/15 - 1
1-154574858-T-A c.260A>T p.Q87L Missense 2/15 - 1
1-154574858-T-C c.260A>G p.Q87R Missense 2/15 - 1
1-154574859-G-A c.259C>T p.Q87* Nonsense 2/15 - 2
1-154574860-CCT-ACA c.256_258delinsTGT p.R86C Missense 2/15 - 1
1-154574860-C-T c.258G>A p.R86= Synonymous 2/15 - 1
1-154574861-C-T c.257G>A p.R86K Missense 2/15 - 1
1-154574863-G-A c.255C>T p.G85= Synonymous 2/15 - 1
1-154574863-TG-T c.255del p.R86Gfs*48 Frameshift 2/15 - 1
1-154574864-C-G c.254G>C p.G85A Missense 2/15 - 1
1-154574865-C-G c.253G>C p.G85R Missense 2/15 - 1
1-154574866-CTCT-C c.250_252del p.R84del InFrameDeletion 2/15 - 1
1-154574866-T-C c.252A>G p.R84= Synonymous 2/15 - 1
1-154574869-G-A c.249C>T p.T83= Synonymous 2/15 - 1
1-154574873-C-A c.245G>T p.S82I Missense 2/15 - 2
1-154574873-C-CCAG c.244_245insCTG p.S82delinsTG MultiAAMissense 2/15 - 1
1-154574874-T-A c.244A>T p.S82C Missense 2/15 - 1
1-154574874-T-C c.244A>G p.S82G Missense 2/15 - 1
1-154574876-G-A c.242C>T p.S81F Missense 2/15 - 1
1-154574876-G-GC c.241_242insG p.S81Cfs*44 Frameshift 2/15 - 1
1-154574878-G-A c.240C>T p.A80= Synonymous 2/15 - 1
1-154574880-C-A c.238G>T p.A80S Missense 2/15 - 1
1-154574881-A-G c.237T>C p.L79= Synonymous 2/15 - 1
1-154574884-T-A c.234A>T p.L78= Synonymous 2/15 - 1
1-154574884-T-C c.234A>G p.L78= Synonymous 2/15 - 1
1-154574884-T-G c.234A>C p.L78= Synonymous 2/15 - 1
1-154574886-G-A c.232C>T p.L78= Synonymous 2/15 - 1
1-154574892-G-A c.226C>T p.P76S Missense 2/15 - 2
1-154574892-G-C c.226C>G p.P76A Missense 2/15 - 1
1-154574893-A-G c.225T>C p.F75= Synonymous 2/15 - 1
1-154574895-A-G c.223T>C p.F75L Missense 2/15 - 1
1-154574896-CCT-ATA c.220_222delinsTAT p.R74Y Missense 2/15 - 1
1-154574896-C-T c.222G>A p.R74= Synonymous 2/15 - 2
1-154574898-T-G c.220A>C p.R74= Synonymous 2/15 - 1
1-154574899-T-C c.219A>G p.P73= Synonymous 2/15 - 1
1-154574900-G-C c.218C>G p.P73R Missense 2/15 - 1
1-154574901-G-C c.217C>G p.P73A Missense 2/15 - 1
1-154574903-C-T c.215G>A p.R72Q Missense 2/15 - 1
1-154574904-G-A c.214C>T p.R72W Missense 2/15 - 4
1-154574906-A-C c.212T>G p.L71R Missense 2/15 - 1
1-154574907-G-A c.211C>T p.L71F Missense 2/15 - 1
1-154574909-C-T c.209G>A p.G70E Missense 2/15 - 1
1-154574910-C-G c.208G>C p.G70R Missense 2/15 - 1
1-154574912-G-A c.206C>T p.P69L Missense 2/15 - 1
1-154574914-GAG-CAT c.202_204delinsATG p.L68M Missense 2/15 - 1
1-154574915-A-G c.203T>C p.L68P Missense 2/15 - 1
1-154574916-G-C c.202C>G p.L68V Missense 2/15 - 1
1-154574917-GGA-CTC c.199_201delinsGAG p.S67E Missense 2/15 - 1
1-154574921-G-T c.197C>A p.P66H Missense 2/15 - 1
1-154574922-G-C c.196C>G p.P66A Missense 2/15 - 1
1-154574929-T-A c.189A>T p.S63= Synonymous 2/15 - 1
1-154574929-T-C c.189A>G p.S63= Synonymous 2/15 - 1
1-154574929-T-G c.189A>C p.S63= Synonymous 2/15 - 1
1-154574929-TG-AA c.188_189delinsTT p.S63F Missense 2/15 - 1
1-154574931-A-G c.187T>C p.S63P Missense 2/15 - 1
1-154574931-A-T c.187T>A p.S63T Missense 2/15 - 1
1-154574933-G-A c.185C>T p.P62L Missense 2/15 - 2
1-154574933-G-T c.185C>A p.P62Q Missense 2/15 - 1
1-154574936-G-T c.182C>A p.T61K Missense 2/15 - 1
1-154574938-C-A c.180G>T p.Q60H Missense 2/15 - 1
1-154574938-C-T c.180G>A p.Q60= Synonymous 2/15 - 1
1-154574939-T-A c.179A>T p.Q60L Missense 2/15 - 1
1-154574940-G-T c.178C>A p.Q60K Missense 2/15 - 1
1-154574942-T-A c.176A>T p.K59M Missense 2/15 - 1
1-154574942-T-C c.176A>G p.K59R Missense 2/15 - 1
1-154574946-C-A c.172G>T p.G58* Nonsense 2/15 - 1
1-154574946-C-T c.172G>A p.G58R Missense 2/15 - 1
1-154574946-CA-C c.171del p.I57Mfs*77 Frameshift 2/15 - 1
1-154574954-G-A c.164C>T p.P55L Missense 2/15 - 3
1-154574954-GG-CC c.163_164inv p.P55G Missense 2/15 - 1
1-154574955-G-A c.163C>T p.P55S Missense 2/15 - 1
1-154574955-G-C c.163C>G p.P55A Missense 2/15 - 1
1-154574956-TG-GT c.161_162delinsAC p.A54D Missense 2/15 - 1
1-154574957-G-A c.161C>T p.A54V Missense 2/15 - 1
1-154574959-T-A c.159A>T p.E53D Missense 2/15 - 1
1-154574959-T-G c.159A>C p.E53D Missense 2/15 - 1
1-154574963-G-C c.155C>G p.P52R Missense 2/15 - 1
1-154574964-G-T c.154C>A p.P52T Missense 2/15 - 1
1-154574965-G-A c.153C>T p.L51= Synonymous 2/15 - 1
1-154574965-GAG-TTA c.151_153delinsTAA p.L51* Nonsense 2/15 - 1
1-154574965-G-C c.153C>G p.L51= Synonymous 2/15 - 1
1-154574965-G-T c.153C>A p.L51= Synonymous 2/15 - 1
1-154574971-CCC-ACA c.145_147delinsTGT p.G49C Missense 2/15 - 1
1-154574972-CC-TA c.145_146delinsTA p.G49* Nonsense 2/15 - 1
1-154574972-C-T c.146G>A p.G49E Missense 2/15 - 3
1-154574974-C-T c.144G>A p.K48= Synonymous 2/15 - 1
1-154574974-CT-GA c.143_144delinsTC p.K48I Missense 2/15 - 1
1-154574975-T-C c.143A>G p.K48R Missense 2/15 - 1
1-154574977-G-A c.141C>T p.L47= Synonymous 2/15 - 1
1-154574977-G-C c.141C>G p.L47= Synonymous 2/15 - 1
1-154574977-G-T c.141C>A p.L47= Synonymous 2/15 - 1
1-154574980-A-C c.138T>G p.F46L Missense 2/15 - 1
1-154574980-A-T c.138T>A p.F46L Missense 2/15 - 1
1-154574982-A-C c.136T>G p.F46V Missense 2/15 - 1
1-154574982-A-G c.136T>C p.F46L Missense 2/15 - 1
1-154574983-T-C c.135A>G p.E45= Synonymous 2/15 - 1
1-154574985-C-G c.133G>C p.E45Q Missense 2/15 - 4
1-154574985-C-T c.133G>A p.E45K Missense 2/15 - 1
1-154574989-T-G c.129A>C p.Q43H Missense 2/15 - 1
1-154574990-T-C c.128A>G p.Q43R Missense 2/15 - 1
1-154574992-C-T c.126G>A p.K42= Synonymous 2/15 - 1
1-154574993-T-C c.125A>G p.K42R Missense 2/15 - 1
1-154574996-A-G c.122T>C p.L41P Missense 2/15 - 1
1-154575006-T-A c.112A>T p.S38C Missense 2/15 - 2
1-154575006-T-C c.112A>G p.S38G Missense 2/15 - 1
1-154575008-C-A c.110G>T p.S37I Missense 2/15 - 1
1-154575011-G-A c.107C>T p.P36L Missense 2/15 - 3
1-154575011-G-T c.107C>A p.P36H Missense 2/15 - 1
1-154575013-G-A c.105C>T p.S35= Synonymous 2/15 - 1
1-154575013-GGA-CTT c.103_105delinsAAG p.S35K Missense 2/15 - 1
1-154575013-GG-TT c.104_105delinsAA p.S35* Nonsense 2/15 - 1
1-154575014-G-A c.104C>T p.S35F Missense 2/15 - 2
1-154575014-GA-CC c.103_104delinsGG p.S35G Missense 2/15 - 1
1-154575014-G-T c.104C>A p.S35Y Missense 2/15 - 1
1-154575015-A-C c.103T>G p.S35A Missense 2/15 - 1
1-154575015-A-G c.103T>C p.S35P Missense 2/15 - 3
1-154575018-A-C c.100T>G p.S34A Missense 2/15 - 1
1-154575020-C-T c.98G>A p.G33E Missense 2/15 - 1
1-154575023-G-A c.95C>T p.P32L Missense 2/15 - 1
1-154575024-G-A c.94C>T p.P32S Missense 2/15 - 2
1-154575026-C-T c.92G>A p.G31E Missense 2/15 - 1
1-154575027-C-A c.91G>T p.G31W Missense 2/15 - 1
1-154575027-C-G c.91G>C p.G31R Missense 2/15 - 1
1-154575027-C-T c.91G>A p.G31R Missense 2/15 - 1
1-154575029-G-C c.89C>G p.P30R Missense 2/15 - 1
1-154575030-G-C c.88C>G p.P30A Missense 2/15 - 1
1-154575039-A-G c.79T>C p.Y27H Missense 2/15 - 1
1-154575040-CCT-ATA c.76_78delinsTAT p.R26Y Missense 2/15 - 1
1-154575040-C-G c.78G>C p.R26S Missense 2/15 - 8
1-154575040-C-T c.78G>A p.R26= Synonymous 2/15 - 30
1-154575042-T-G c.76A>C p.R26= Synonymous 2/15 - 3
1-154575041-C-G c.77G>C p.R26T Missense 2/15 - 1
1-154575047-T-C c.71A>G p.Q24R Missense 2/15 - 2
1-154575050-C-A c.68G>T p.R23I Missense 2/15 - 1
1-154575053-T-C c.65A>G p.H22R Missense 2/15 - 2
1-154575054-G-C c.64C>G p.H22D Missense 2/15 - 1
1-154575055-C-T c.63G>A p.E21= Synonymous 2/15 - 1
1-154575060-A-G c.58T>C p.Y20H Missense 2/15 - 1
1-154575061-GC-CT c.56_57delinsAG p.G19E Missense 2/15 - 1
1-154575062-C-G c.56G>C p.G19A Missense 2/15 - 1
1-154575063-C-T c.55G>A p.G19S Missense 2/15 - 2
1-154575065-TG-GA c.52_53delinsTC p.Q18S Missense 2/15 - 1
1-154575066-G-A c.52C>T p.Q18* Nonsense 2/15 - 3
1-154575068-AA-GC c.49_50delinsGC p.F17A Missense 2/15 - 2
1-154575070-T-C c.48A>G p.P16= Synonymous 2/15 - 1
1-154575071-G-A c.47C>T p.P16L Missense 2/15 - 1
1-154575077-G-A c.41C>T p.T14I Missense 2/15 - 1
1-154575077-G-C c.41C>G p.T14S Missense 2/15 - 1
1-154575078-T-C c.40A>G p.T14A Missense 2/15 - 2
1-154575080-T-C c.38A>G p.Y13C Missense 2/15 - 2
1-154575085-TCC-ACA c.31_33delinsTGT p.G11C Missense 2/15 - 1
1-154575086-C-A c.32G>T p.G11V Missense 2/15 - 1
1-154575087-C-G c.31G>C p.G11R Missense 2/15 - 2
1-154575088-GCT-CTC c.28_30delinsGAG p.S10E Missense 2/15 - 5
1-154575089-C-G c.29G>C p.S10T Missense 2/15 - 1
1-154575089-CT-AA c.28_29delinsTT p.S10F Missense 2/15 - 3
1-154575089-CT-GC c.28_29delinsGC p.S10A Missense 2/15 - 27
1-154575089-CT-TC c.28_29delinsGA p.S10D Missense 2/15 - 7
1-154575090-T-A c.28A>T p.S10C Missense 2/15 - 19
1-154575094-G-C c.24C>G p.S8= Synonymous 2/15 - 1
1-154575095-G-C c.23C>G p.S8C Missense 2/15 - 1
1-154575096-A-G c.22T>C p.S8P Missense 2/15 - 1
1-154575096-A-T c.22T>A p.S8T Missense 2/15 - 2
1-154575098-T-C c.20A>G p.Y7C Missense 2/15 - 1
1-154575099-A-G c.19T>C p.Y7H Missense 2/15 - 1
1-154575101-C-A c.17G>T p.G6V Missense 2/15 - 2
1-154575102-C-T c.16G>A p.G6R Missense 2/15 - 1
1-154575232-G-A c.16-130C>T - IntronicSNV - 1/14 1
1-154575315-A-C c.16-213T>G - IntronicSNV - 1/14 1
1-154575321-G-A c.16-219C>T - IntronicSNV - 1/14 1
1-154577055-T-A c.16-1953A>T - IntronicSNV - 1/14 2
1-154577055-T-G c.16-1953A>C - IntronicSNV - 1/14 2
1-154578329-A-G c.15+2139T>C - IntronicSNV - 1/14 1
1-154578357-G-A c.15+2111C>T - IntronicSNV - 1/14 1
1-154579419-A-AT c.15+1048_15+1049insA - IntronicInsertion - 1/14 1
1-154579419-A-ATAT c.15+1048_15+1049insATA - IntronicInsertion - 1/14 1
1-154579419-A-ATATAT c.15+1048_15+1049insATATA - IntronicInsertion - 1/14 1
1-154579419-A-ATATATAT c.15+1048_15+1049insATATATA - IntronicInsertion - 1/14 1
1-154579585-T-C c.15+883A>G - IntronicSNV - 1/14 6
1-154580198-TACACACACACGC-T c.15+258_15+269del - IntronicDeletion - 1/14 1
1-154580278-G-T c.15+190C>A - IntronicSNV - 1/14 1
1-154580285-ACC-A c.15+181_15+182del - IntronicDeletion - 1/14 2
1-154580299-A-T c.15+169T>A - IntronicSNV - 1/14 2
1-154580348-CG-C c.15+120del - IntronicDeletion - 1/14 1
1-154580348-GAC-G c.15+118_15+119del - IntronicDeletion - 1/14 1
1-154580458-C-A c.15+10G>T - IntronicSNV - 1/14 8
1-154580458-C-T c.15+10G>A - IntronicSNV - 1/14 6
1-154580475-G-T c.8C>A p.P3Q Missense 1/15 - 1
1-154580476-G-A c.7C>T p.P3S Missense 1/15 - 1
1-154580476-G-C c.7C>G p.P3A Missense 1/15 - 1
1-154580479-T-G c.4A>C p.N2H Missense 1/15 - 1
1-154580482-T-C c.1A>G p.M1? Missense 1/15 - 3