RAPH1

RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

Annotation transcript: NM_213589.3

1124 unique variant annotations were identified in 344 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
2-204298783-A-C	c.*5377T>G	-	3-UTRSNV	14/14	-	2
2-204298785-A-C	c.*5375T>G	-	3-UTRSNV	14/14	-	1
2-204298787-A-C	c.*5373T>G	-	3-UTRSNV	14/14	-	1
2-204298943-C-A	c.*5217G>T	-	3-UTRSNV	14/14	-	1
2-204299256-C-T	c.*4904G>A	-	3-UTRSNV	14/14	-	2
2-204299289-C-A	c.*4871G>T	-	3-UTRSNV	14/14	-	1
2-204299540-A-G	c.*4620T>C	-	3-UTRSNV	14/14	-	1
2-204301296-G-A	c.*2864C>T	-	3-UTRSNV	14/14	-	1
2-204301750-G-C	c.*2410C>G	-	3-UTRSNV	14/14	-	1
2-204301750-G-GA	c.*2409dup	-	3-UTRInsertion	14/14	-	1
2-204301750-G-GAC	c.2409_2410insGT	-	3-UTRInsertion	14/14	-	1
2-204304163-C-T	c.3750G>A	p.W1250*	Nonsense	14/14	-	1
2-204304171-T-C	c.3742A>G	p.R1248G	Missense	14/14	-	1
2-204304173-G-T	c.3740C>A	p.S1247Y	Missense	14/14	-	2
2-204304174-A-G	c.3739T>C	p.S1247P	Missense	14/14	-	1
2-204304181-G-T	c.3732C>A	p.T1244=	Synonymous	14/14	-	2
2-204304183-T-G	c.3730A>C	p.T1244P	Missense	14/14	-	1
2-204304184-GT-G	c.3728del	p.N1243Tfs*17	Frameshift	14/14	-	1
2-204304191-T-G	c.3722A>C	p.D1241A	Missense	14/14	-	1
2-204304196-T-A	c.3717A>T	p.K1239N	Missense	14/14	-	1
2-204304199-G-A	c.3714C>T	p.P1238=	Synonymous	14/14	-	1
2-204304199-G-C	c.3714C>G	p.P1238=	Synonymous	14/14	-	1
2-204304199-G-T	c.3714C>A	p.P1238=	Synonymous	14/14	-	1
2-204304198-T-TG	c.3714dup	p.K1239Qfs*33	Frameshift	14/14	-	1
2-204304204-G-A	c.3709C>T	p.P1237S	Missense	14/14	-	1
2-204304214-G-A	c.3699C>T	p.P1233=	Synonymous	14/14	-	8
2-204304216-G-C	c.3697C>G	p.P1233A	Missense	14/14	-	1
2-204304217-T-A	c.3696A>T	p.G1232=	Synonymous	14/14	-	1
2-204304217-T-C	c.3696A>G	p.G1232=	Synonymous	14/14	-	1
2-204304217-T-G	c.3696A>C	p.G1232=	Synonymous	14/14	-	1
2-204304221-C-A	c.3692G>T	p.R1231I	Missense	14/14	-	2
2-204304224-C-T	c.3689G>A	p.R1230Q	Missense	14/14	-	3
2-204304223-C-A	c.3690G>T	p.R1230=	Synonymous	14/14	-	1
2-204304223-C-G	c.3690G>C	p.R1230=	Synonymous	14/14	-	1
2-204304223-C-T	c.3690G>A	p.R1230=	Synonymous	14/14	-	1
2-204304225-G-T	c.3688C>A	p.R1230=	Synonymous	14/14	-	1
2-204304229-C-A	c.3684G>T	p.T1228=	Synonymous	14/14	-	4
2-204304229-C-G	c.3684G>C	p.T1228=	Synonymous	14/14	-	1
2-204304229-C-T	c.3684G>A	p.T1228=	Synonymous	14/14	-	4
2-204304230-G-A	c.3683C>T	p.T1228M	Missense	14/14	-	1
2-204304231-T-C	c.3682A>G	p.T1228A	Missense	14/14	-	4
2-204304236-T-C	c.3677A>G	p.Y1226C	Missense	14/14	-	2
2-204304239-C-A	c.3674G>T	p.G1225V	Missense	14/14	-	1
2-204304245-A-G	c.3668T>C	p.I1223T	Missense	14/14	-	1
2-204304246-T-C	c.3667A>G	p.I1223V	Missense	14/14	-	2
2-204304254-C-A	c.3659G>T	p.G1220V	Missense	14/14	-	2
2-204304255-C-T	c.3658G>A	p.G1220S	Missense	14/14	-	1
2-204304258-C-G	c.3655G>C	p.G1219R	Missense	14/14	-	1
2-204304258-C-T	c.3655G>A	p.G1219R	Missense	14/14	-	1
2-204304259-G-A	c.3654C>T	p.Y1218=	Synonymous	14/14	-	2
2-204304268-C-T	c.3645G>A	p.K1215=	Synonymous	14/14	-	2
2-204304271-C-A	c.3642G>T	p.Q1214H	Missense	14/14	-	2
2-204304271-C-G	c.3642G>C	p.Q1214H	Missense	14/14	-	3
2-204304271-C-T	c.3642G>A	p.Q1214=	Synonymous	14/14	-	1
2-204304276-G-T	c.3637C>A	p.Q1213K	Missense	14/14	-	1
2-204304281-G-A	c.3632C>T	p.S1211F	Missense	14/14	-	2
2-204304283-C-G	c.3630G>C	p.L1210=	Synonymous	14/14	-	1
2-204304285-G-A	c.3628C>T	p.L1210=	Synonymous	14/14	-	2
2-204304300-G-C	c.3613C>G	p.P1205A	Missense	14/14	-	1
2-204304302-G-T	c.3611C>A	p.P1204Q	Missense	14/14	-	1
2-204304303-G-A	c.3610C>T	p.P1204S	Missense	14/14	-	2
2-204304305-G-A	c.3608C>T	p.P1203L	Missense	14/14	-	1
2-204304306-G-C	c.3607C>G	p.P1203A	Missense	14/14	-	1
2-204304316-A-G	c.3597T>C	p.D1199=	Synonymous	14/14	-	1
2-204304324-T-C	c.3589A>G	p.M1197V	Missense	14/14	-	1
2-204304344-C-T	c.3569G>A	p.R1190K	Missense	14/14	-	1
2-204304351-T-C	c.3562A>G	p.M1188V	Missense	14/14	-	1
2-204304353-C-G	c.3560G>C	p.R1187P	Missense	14/14	-	1
2-204304353-C-T	c.3560G>A	p.R1187H	Missense	14/14	-	1
2-204304354-G-A	c.3559C>T	p.R1187C	Missense	14/14	-	4
2-204304357-A-C	c.3556T>G	p.S1186A	Missense	14/14	-	2
2-204304363-G-A	c.3550C>T	p.L1184F	Missense	14/14	-	1
2-204304364-T-A	c.3549A>T	p.S1183=	Synonymous	14/14	-	2
2-204304364-T-C	c.3549A>G	p.S1183=	Synonymous	14/14	-	2
2-204304364-T-G	c.3549A>C	p.S1183=	Synonymous	14/14	-	2
2-204304369-C-T	c.3544G>A	p.G1182S	Missense	14/14	-	2
2-204304383-G-T	c.3530C>A	p.S1177Y	Missense	14/14	-	1
2-204304386-T-C	c.3527A>G	p.K1176R	Missense	14/14	-	3
2-204304389-C-T	c.3524G>A	p.R1175Q	Missense	14/14	-	3
2-204304390-G-A	c.3523C>T	p.R1175*	Nonsense	14/14	-	1
2-204304402-T-C	c.3511A>G	p.R1171G	Missense	14/14	-	3
2-204304406-G-C	c.3507C>G	p.L1169=	Synonymous	14/14	-	1
2-204304413-G-A	c.3500C>T	p.A1167V	Missense	14/14	-	1
2-204304414-C-T	c.3499G>A	p.A1167T	Missense	14/14	-	1
2-204304417-G-A	c.3496C>T	p.L1166=	Synonymous	14/14	-	4
2-204304427-C-A	c.3486G>T	p.Q1162H	UnclassifiedSNV	14/14	-	3
2-204304427-C-G	c.3486G>C	p.Q1162H	Missense	14/14	-	2
2-204304428-T-A	c.3485A>T	p.Q1162L	Missense	14/14	-	1
2-204304439-G-A	c.3474C>T	p.S1158=	Synonymous	14/14	-	1
2-204304445-T-C	c.3468A>G	p.K1156=	Synonymous	14/14	-	1
2-204304448-G-A	c.3465C>T	p.P1155=	Synonymous	14/14	-	1
2-204304453-A-G	c.3460T>C	p.S1154P	Missense	14/14	-	1
2-204304460-CAC-GAT	c.3451_3453delinsATC	p.V1151I	Missense	14/14	-	1
2-204304470-A-T	c.3443T>A	p.V1148E	Missense	14/14	-	1
2-204304471-C-T	c.3442G>A	p.V1148M	Missense	14/14	-	1
2-204304479-G-A	c.3434C>T	p.A1145V	Missense	14/14	-	1
2-204304482-A-G	c.3431T>C	p.M1144T	Missense	14/14	-	2
2-204304489-G-T	c.3424C>A	p.P1142T	Missense	14/14	-	4
2-204304491-T-A	c.3422A>T	p.Q1141L	Missense	14/14	-	1
2-204304493-C-T	c.3420G>A	p.E1140=	Synonymous	14/14	-	3
2-204304499-A-G	c.3414T>C	p.I1138=	Synonymous	14/14	-	1
2-204304499-A-T	c.3414T>A	p.I1138=	Synonymous	14/14	-	1
2-204304502-C-T	c.3411G>A	p.E1137=	Synonymous	14/14	-	1
2-204304517-G-A	c.3396C>T	p.R1132=	Synonymous	14/14	-	1
2-204304519-G-A	c.3394C>T	p.R1132C	Missense	14/14	-	6
2-204304522-T-G	c.3391A>C	p.T1131P	Missense	14/14	-	1
2-204304523-G-A	c.3390C>T	p.S1130=	Synonymous	14/14	-	1
2-204304528-C-G	c.3385G>C	p.D1129H	Missense	14/14	-	1
2-204304533-C-T	c.3380G>A	p.R1127Q	Missense	14/14	-	1
2-204304539-G-A	c.3374C>T	p.P1125L	Missense	14/14	-	1
2-204304542-C-T	c.3371G>A	p.R1124Q	Missense	14/14	-	1
2-204304543-G-A	c.3370C>T	p.R1124*	Nonsense	14/14	-	2
2-204304546-T-G	c.3367A>C	p.T1123P	UnclassifiedSNV	14/14	-	2
2-204304551-G-C	c.3362C>G	p.P1121R	Missense	14/14	-	1
2-204304554-G-A	c.3359C>T	p.P1120L	Missense	14/14	-	2
2-204304559-C-A	c.3354G>T	p.K1118N	Missense	14/14	-	2
2-204304559-C-G	c.3354G>C	p.K1118N	Missense	14/14	-	2
2-204304560-TT-GC	c.3352_3353delinsGC	p.K1118A	Missense	14/14	-	1
2-204304568-T-C	c.3345A>G	p.S1115=	Synonymous	14/14	-	1
2-204304565-CACTGACATTTTAGACCATTGTTGTGGTTGAGGATTAACG-C	c.3309_3347del	p.V1104_V1116del	InFrameDeletion	14/14	-	1
2-204304572-A-G	c.3341T>C	p.M1114T	Missense	14/14	-	1
2-204304578-GA-AC	c.3334_3335delinsGT	p.S1112V	Missense	14/14	-	1
2-204304584-T-A	c.3329A>T	p.Q1110L	Missense	14/14	-	1
2-204304585-G-A	c.3328C>T	p.Q1110*	Nonsense	14/14	-	1
2-204304588-G-C	c.3325C>G	p.Q1109E	Missense	14/14	-	1
2-204304594-G-C	c.3319C>G	p.Q1107E	Missense	14/14	-	1
2-204304600-T-A	c.3313A>T	p.N1105Y	Missense	14/14	-	1
2-204304603-C-T	c.3310G>A	p.V1104I	Missense	14/14	-	2
2-204304609-C-T	c.3304G>A	p.A1102T	Missense	14/14	-	1
2-204304620-G-A	c.3293C>T	p.S1098F	Missense	14/14	-	1
2-204304630-C-G	c.3283G>C	p.G1095R	Missense	14/14	-	3
2-204304630-C-T	c.3283G>A	p.G1095R	Missense	14/14	-	4
2-204304631-C-A	c.3282G>T	p.S1094=	Synonymous	14/14	-	1
2-204304631-C-T	c.3282G>A	p.S1094=	Synonymous	14/14	-	2
2-204304632-G-A	c.3281C>T	p.S1094L	Missense	14/14	-	2
2-204304637-A-C	c.3276T>G	p.V1092=	Synonymous	14/14	-	1
2-204304637-A-G	c.3276T>C	p.V1092=	Synonymous	14/14	-	1
2-204304637-A-T	c.3276T>A	p.V1092=	Synonymous	14/14	-	1
2-204304638-A-G	c.3275T>C	p.V1092A	Missense	14/14	-	1
2-204304639-C-T	c.3274G>A	p.V1092I	Missense	14/14	-	1
2-204304642-C-T	c.3271G>A	p.A1091T	Missense	14/14	-	1
2-204304645-G-T	c.3268C>A	p.P1090T	Missense	14/14	-	1
2-204304653-A-G	c.3260T>C	p.I1087T	Missense	14/14	-	1
2-204304655-G-A	c.3258C>T	p.P1086=	Synonymous	14/14	-	1
2-204304656-G-A	c.3257C>T	p.P1086L	Missense	14/14	-	1
2-204304661-C-A	c.3252G>T	p.L1084=	Synonymous	14/14	-	1
2-204304661-C-G	c.3252G>C	p.L1084=	Synonymous	14/14	-	1
2-204304661-C-T	c.3252G>A	p.L1084=	Synonymous	14/14	-	1
2-204304663-G-A	c.3250C>T	p.L1084=	Synonymous	14/14	-	1
2-204304663-G-C	c.3250C>G	p.L1084V	Missense	14/14	-	1
2-204304663-G-T	c.3250C>A	p.L1084M	Missense	14/14	-	1
2-204304665-G-A	c.3248C>T	p.P1083L	Missense	14/14	-	1
2-204304674-G-A	c.3239C>T	p.T1080I	Missense	14/14	-	1
2-204304679-A-C	c.3234T>G	p.P1078=	Synonymous	14/14	-	1
2-204304679-A-G	c.3234T>C	p.P1078=	Synonymous	14/14	-	1
2-204304679-A-T	c.3234T>A	p.P1078=	Synonymous	14/14	-	1
2-204304681-G-C	c.3232C>G	p.P1078A	Missense	14/14	-	1
2-204304682-T-A	c.3231A>T	p.P1077=	Synonymous	14/14	-	1
2-204304682-T-C	c.3231A>G	p.P1077=	Synonymous	14/14	-	1
2-204304682-T-G	c.3231A>C	p.P1077=	Synonymous	14/14	-	1
2-204304685-A-C	c.3228T>G	p.P1076=	Synonymous	14/14	-	1
2-204304685-A-G	c.3228T>C	p.P1076=	Synonymous	14/14	-	1
2-204304685-A-T	c.3228T>A	p.P1076=	Synonymous	14/14	-	1
2-204304687-G-C	c.3226C>G	p.P1076A	Missense	14/14	-	1
2-204304685-AG-A	c.3227del	p.P1076Lfs*41	Frameshift	14/14	-	2
2-204304700-AGAATCGGATG-A	c.3203_3212del	p.P1068Lfs*46	Frameshift	14/14	-	2
2-204304702-AATCGGATGG-A	c.3202_3210del	p.P1068_D1070del	InFrameDeletion	14/14	-	1
2-204304705-C-T	c.3208G>A	p.D1070N	Missense	14/14	-	3
2-204304706-G-A	c.3207C>T	p.S1069=	Synonymous	14/14	-	4
2-204304706-G-T	c.3207C>A	p.S1069=	Synonymous	14/14	-	3
2-204304714-G-A	c.3199C>T	p.P1067S	Missense	14/14	-	2
2-204304733-G-A	c.3180C>T	p.S1060=	Synonymous	14/14	-	1
2-204304734-GA-AC	c.3178_3179delinsGT	p.S1060V	Missense	14/14	-	1
2-204304738-C-A	c.3175G>T	p.D1059Y	Missense	14/14	-	1
2-204304741-T-C	c.3172A>G	p.K1058E	Missense	14/14	-	1
2-204304746-C-T	c.3167G>A	p.R1056H	Missense	14/14	-	2
2-204304747-G-A	c.3166C>T	p.R1056C	Missense	14/14	-	3
2-204304750-C-T	c.3163G>A	p.G1055R	Missense	14/14	-	1
2-204304751-A-G	c.3162T>C	p.S1054=	Synonymous	14/14	-	1
2-204304756-G-A	c.3157C>T	p.L1053=	Synonymous	14/14	-	1
2-204304762-G-A	c.3151C>T	p.P1051S	Missense	14/14	-	2
2-204304764-G-A	c.3149C>T	p.A1050V	Missense	14/14	-	1
2-204304765-C-T	c.3148G>A	p.A1050T	Missense	14/14	-	2
2-204304772-T-C	c.3141A>G	p.S1047=	Synonymous	14/14	-	1
2-204304776-A-G	c.3137T>C	p.V1046A	Missense	14/14	-	1
2-204304779-CA-AT	c.3133_3134delinsAT	p.C1045I	Missense	14/14	-	1
2-204304782-C-T	c.3131G>A	p.G1044E	Missense	14/14	-	1
2-204304791-A-T	c.3122T>A	p.L1041H	Missense	14/14	-	1
2-204304792-G-A	c.3121C>T	p.L1041F	UnclassifiedSNV	14/14	-	2
2-204304794-A-G	c.3119T>C	p.V1040A	Missense	14/14	-	1
2-204304795-C-T	c.3118G>A	p.V1040I	Missense	14/14	-	1
2-204304796-TCC-GCT	c.3115_3117delinsAGC	p.G1039S	Missense	14/14	-	1
2-204304798-C-G	c.3115G>C	p.G1039R	Missense	14/14	-	1
2-204304798-C-T	c.3115G>A	p.G1039R	Missense	14/14	-	1
2-204304805-G-C	c.3108C>G	p.N1036K	Missense	14/14	-	1
2-204304806-T-C	c.3107A>G	p.N1036S	Missense	14/14	-	1
2-204304809-A-G	c.3104T>C	p.V1035A	Missense	14/14	-	2
2-204304815-G-T	c.3098C>A	p.S1033Y	Missense	14/14	-	1
2-204304819-G-C	c.3094C>G	p.L1032V	UnclassifiedSNV	14/14	-	1
2-204304820-A-AT	c.3092dup	p.N1031Kfs*42	Frameshift	14/14	-	3
2-204304822-T-G	c.3091A>C	p.N1031H	Missense	14/14	-	1
2-204304831-C-T	c.3082G>A	p.G1028R	Missense	14/14	-	1
2-204304836-T-G	c.3077A>C	p.K1026T	Missense	14/14	-	3
2-204304841-G-A	c.3072C>T	p.P1024=	Synonymous	14/14	-	1
2-204304837-T-TG	c.3075dup	p.K1026Qfs*47	Frameshift	14/14	-	1
2-204304844-T-A	c.3069A>T	p.A1023=	Synonymous	14/14	-	1
2-204304844-T-C	c.3069A>G	p.A1023=	Synonymous	14/14	-	1
2-204304844-T-G	c.3069A>C	p.A1023=	Synonymous	14/14	-	1
2-204304846-C-T	c.3067G>A	p.A1023T	Missense	14/14	-	1
2-204304854-G-T	c.3059C>A	p.P1020H	Missense	14/14	-	2
2-204304858-G-T	c.3055C>A	p.P1019T	Missense	14/14	-	1
2-204304859-T-A	c.3054A>T	p.L1018=	Synonymous	14/14	-	2
2-204304859-T-C	c.3054A>G	p.L1018=	Synonymous	14/14	-	2
2-204304859-T-G	c.3054A>C	p.L1018=	Synonymous	14/14	-	2
2-204304861-G-A	c.3052C>T	p.L1018=	Synonymous	14/14	-	2
2-204304860-A-G	c.3053T>C	p.L1018P	Missense	14/14	-	1
2-204304861-G-C	c.3052C>G	p.L1018V	Missense	14/14	-	1
2-204304869-T-C	c.3044A>G	p.K1015R	Missense	14/14	-	1
2-204304870-T-A	c.3043A>T	p.K1015*	Nonsense	14/14	-	1
2-204304872-C-T	c.3041G>A	p.S1014N	Missense	14/14	-	1
2-204304873-T-A	c.3040A>T	p.S1014C	Missense	14/14	-	1
2-204304873-T-C	c.3040A>G	p.S1014G	Missense	14/14	-	1
2-204304876-G-T	c.3037C>A	p.P1013T	Missense	14/14	-	1
2-204304895-C-A	c.3018G>T	p.P1006=	Synonymous	14/14	-	1
2-204304895-C-G	c.3018G>C	p.P1006=	Synonymous	14/14	-	1
2-204304895-C-T	c.3018G>A	p.P1006=	Synonymous	14/14	-	3
2-204304896-G-A	c.3017C>T	p.P1006L	Missense	14/14	-	1
2-204304897-G-T	c.3016C>A	p.P1006T	Missense	14/14	-	1
2-204304899-G-A	c.3014C>T	p.T1005I	UnclassifiedSNV	14/14	-	1
2-204304916-A-G	c.2997T>C	p.S999=	Synonymous	14/14	-	1
2-204304925-C-A	c.2988G>T	p.S996=	Synonymous	14/14	-	1
2-204304925-C-G	c.2988G>C	p.S996=	Synonymous	14/14	-	1
2-204304925-C-T	c.2988G>A	p.S996=	Synonymous	14/14	-	1
2-204304926-G-A	c.2987C>T	p.S996L	Missense	14/14	-	6
2-204304929-G-C	c.2984C>G	p.P995R	Missense	14/14	-	2
2-204304933-T-G	c.2980A>C	p.R994=	Synonymous	14/14	-	1
2-204304937-G-A	c.2976C>T	p.P992=	Synonymous	14/14	-	2
2-204304937-G-C	c.2976C>G	p.P992=	Synonymous	14/14	-	2
2-204304937-G-T	c.2976C>A	p.P992=	Synonymous	14/14	-	2
2-204304938-G-A	c.2975C>T	p.P992L	Missense	14/14	-	3
2-204304942-C-T	c.2971G>A	p.E991K	Missense	14/14	-	1
2-204304943-G-A	c.2970C>T	p.P990=	Synonymous	14/14	-	2
2-204304943-G-C	c.2970C>G	p.P990=	Synonymous	14/14	-	2
2-204304943-G-T	c.2970C>A	p.P990=	Synonymous	14/14	-	2
2-204304947-T-G	c.2966A>C	p.H989P	Missense	14/14	-	1
2-204304953-G-A	c.2960C>T	p.A987V	Missense	14/14	-	1
2-204304956-C-T	c.2957G>A	p.G986D	Missense	14/14	-	2
2-204304957-C-A	c.2956G>T	p.G986C	Missense	14/14	-	1
2-204304958-A-G	c.2955T>C	p.S985=	Synonymous	14/14	-	2
2-204304962-CT-TA	c.2950_2951delinsTA	p.S984Y	Missense	14/14	-	1
2-204304963-T-C	c.2950A>G	p.S984G	Missense	14/14	-	1
2-204304973-G-C	c.2940C>G	p.S980R	Missense	14/14	-	1
2-204304973-G-T	c.2940C>A	p.S980R	Missense	14/14	-	1
2-204304975-T-G	c.2938A>C	p.S980R	Missense	14/14	-	1
2-204304977-GA-CC	c.2935_2936delinsGG	p.S979G	Missense	14/14	-	1
2-204304983-C-T	c.2930G>A	p.R977H	Missense	14/14	-	1
2-204304986-T-G	c.2927A>C	p.Q976P	Missense	14/14	-	1
2-204304995-G-A	c.2918C>T	p.P973L	Missense	14/14	-	1
2-204305002-G-C	c.2911C>G	p.P971A	Missense	14/14	-	1
2-204305010-C-T	c.2903G>A	p.G968E	Missense	14/14	-	3
2-204305016-G-A	c.2897C>T	p.P966L	Missense	14/14	-	2
2-204305019-C-A	c.2894G>T	p.S965I	Missense	14/14	-	1
2-204305019-C-T	c.2894G>A	p.S965N	Missense	14/14	-	1
2-204305022-G-C	c.2891C>G	p.S964C	Missense	14/14	-	6
2-204305025-G-A	c.2888C>T	p.T963M	Missense	14/14	-	2
2-204305031-C-G	c.2882G>C	p.S961T	Missense	14/14	-	1
2-204305033-G-A	c.2880C>T	p.T960=	Synonymous	14/14	-	1
2-204305033-G-C	c.2880C>G	p.T960=	Synonymous	14/14	-	1
2-204305033-G-T	c.2880C>A	p.T960=	Synonymous	14/14	-	1
2-204305043-C-G	c.2870G>C	p.G957A	Missense	14/14	-	1
2-204305046-G-A	c.2867C>T	p.P956L	Missense	14/14	-	3
2-204305050-A-G	c.2863T>C	p.S955P	Missense	14/14	-	1
2-204305056-T-C	c.2857A>G	p.S953G	Missense	14/14	-	1
2-204305059-T-A	c.2854A>T	p.K952*	Nonsense	14/14	-	2
2-204305063-A-C	c.2850T>G	p.P950=	Synonymous	14/14	-	1
2-204305063-A-G	c.2850T>C	p.P950=	Synonymous	14/14	-	1
2-204305063-A-T	c.2850T>A	p.P950=	Synonymous	14/14	-	1
2-204305072-A-C	c.2841T>G	p.S947=	Synonymous	14/14	-	1
2-204305072-A-G	c.2841T>C	p.S947=	Synonymous	14/14	-	1
2-204305072-A-T	c.2841T>A	p.S947=	Synonymous	14/14	-	1
2-204305077-C-G	c.2836G>C	p.A946P	Missense	14/14	-	1
2-204305077-C-T	c.2836G>A	p.A946T	Missense	14/14	-	3
2-204305078-T-A	c.2835A>T	p.T945=	Synonymous	14/14	-	1
2-204305078-T-C	c.2835A>G	p.T945=	Synonymous	14/14	-	1
2-204305078-T-G	c.2835A>C	p.T945=	Synonymous	14/14	-	1
2-204305085-G-A	c.2828C>T	p.P943L	Missense	14/14	-	1
2-204305087-A-C	c.2826T>G	p.P942=	Synonymous	14/14	-	1
2-204305087-A-G	c.2826T>C	p.P942=	Synonymous	14/14	-	1
2-204305087-A-T	c.2826T>A	p.P942=	Synonymous	14/14	-	2
2-204305090-T-C	c.2823A>G	p.P941=	Synonymous	14/14	-	2
2-204305090-T-G	c.2823A>C	p.P941=	Synonymous	14/14	-	1
2-204305093-T-A	c.2820A>T	p.P940=	Synonymous	14/14	-	1
2-204305093-T-C	c.2820A>G	p.P940=	Synonymous	14/14	-	11
2-204305093-T-G	c.2820A>C	p.P940=	Synonymous	14/14	-	8
2-204305100-G-A	c.2813C>T	p.P938L	Missense	14/14	-	1
2-204305101-G-A	c.2812C>T	p.P938S	Missense	14/14	-	1
2-204305111-A-C	c.2802T>G	p.P934=	Synonymous	14/14	-	1
2-204305111-A-G	c.2802T>C	p.P934=	Synonymous	14/14	-	1
2-204305111-A-T	c.2802T>A	p.P934=	Synonymous	14/14	-	1
2-204305111-CAGGTGATGG-C	c.2794_2802del	p.P932_P934del	InFrameDeletion	14/14	-	1
2-204305117-T-G	c.2796A>C	p.P932=	Synonymous	14/14	-	1
2-204305123-T-A	c.2790A>T	p.P930=	Synonymous	14/14	-	1
2-204305123-T-C	c.2790A>G	p.P930=	Synonymous	14/14	-	1
2-204305123-T-G	c.2790A>C	p.P930=	Synonymous	14/14	-	1
2-204305131-G-A	c.2782C>T	p.P928S	Missense	14/14	-	5
2-204305143-T-A	c.2770A>T	p.S924C	Missense	14/14	-	1
2-204305148-T-A	c.2765A>T	p.E922V	Missense	14/14	-	1
2-204305149-C-T	c.2764G>A	p.E922K	Missense	14/14	-	1
2-204305152-G-T	c.2761C>A	p.P921T	Missense	14/14	-	1
2-204305155-G-A	c.2758C>T	p.P920S	Missense	14/14	-	1
2-204305156-G-A	c.2757C>T	p.P919=	Synonymous	14/14	-	1
2-204305156-G-C	c.2757C>G	p.P919=	Synonymous	14/14	-	1
2-204305156-G-T	c.2757C>A	p.P919=	Synonymous	14/14	-	1
2-204305153-AG-A	c.2759del	p.P920Lfs*81	Frameshift	14/14	-	1
2-204305158-G-A	c.2755C>T	p.P919S	Missense	14/14	-	2
2-204305163-G-A	c.2750C>T	p.P917L	Missense	14/14	-	1
2-204305168-G-A	c.2745C>T	p.D915=	Synonymous	14/14	-	1
2-204305172-G-A	c.2741C>T	p.P914L	Missense	14/14	-	1
2-204305173-G-A	c.2740C>T	p.P914S	Missense	14/14	-	1
2-204305178-G-A	c.2735C>T	p.P912L	Missense	14/14	-	1
2-204305181-A-G	c.2732T>C	p.V911A	Missense	14/14	-	2
2-204305185-G-T	c.2728C>A	p.P910T	Missense	14/14	-	1
2-204305189-G-A	c.2724C>T	p.S908=	Synonymous	14/14	-	1
2-204305189-G-C	c.2724C>G	p.S908=	Synonymous	14/14	-	1
2-204305189-G-T	c.2724C>A	p.S908=	Synonymous	14/14	-	1
2-204305195-G-A	c.2718C>T	p.P906=	Synonymous	14/14	-	2
2-204305195-G-C	c.2718C>G	p.P906=	Synonymous	14/14	-	1
2-204305197-G-A	c.2716C>T	p.P906S	UnclassifiedSNV	14/14	-	1
2-204305198-C-A	c.2715G>T	p.Q905H	Missense	14/14	-	2
2-204305198-C-G	c.2715G>C	p.Q905H	Missense	14/14	-	1
2-204305202-C-G	c.2711G>C	p.W904S	Missense	14/14	-	1
2-204305204-C-G	c.2709G>C	p.K903N	Missense	14/14	-	1
2-204305204-C-T	c.2709G>A	p.K903=	Synonymous	14/14	-	1
2-204305206-T-C	c.2707A>G	p.K903E	Missense	14/14	-	1
2-204305210-C-T	c.2703G>A	p.K901=	Synonymous	14/14	-	1
2-204305222-T-A	c.2691A>T	p.A897=	Synonymous	14/14	-	2
2-204305222-T-C	c.2691A>G	p.A897=	Synonymous	14/14	-	1
2-204305222-T-G	c.2691A>C	p.A897=	Synonymous	14/14	-	1
2-204305229-G-A	c.2684C>T	p.P895L	Missense	14/14	-	2
2-204305241-G-A	c.2672C>T	p.A891V	Missense	14/14	-	1
2-204305242-C-A	c.2671G>T	p.A891S	Missense	14/14	-	1
2-204305259-G-A	c.2654C>T	p.P885L	Missense	14/14	-	1
2-204305270-C-A	c.2643G>T	p.Q881H	Missense	14/14	-	1
2-204305270-C-G	c.2643G>C	p.Q881H	Missense	14/14	-	1
2-204305273-A-C	c.2640T>G	p.S880=	Synonymous	14/14	-	2
2-204305273-A-G	c.2640T>C	p.S880=	Synonymous	14/14	-	2
2-204305273-A-T	c.2640T>A	p.S880=	Synonymous	14/14	-	2
2-204305274-G-C	c.2639C>G	p.S880C	Missense	14/14	-	1
2-204305274-G-T	c.2639C>A	p.S880Y	Missense	14/14	-	1
2-204305279-C-A	c.2634G>T	p.M878I	Missense	14/14	-	1
2-204305279-C-G	c.2634G>C	p.M878I	Missense	14/14	-	1
2-204305279-C-T	c.2634G>A	p.M878I	Missense	14/14	-	1
2-204305281-T-A	c.2632A>T	p.M878L	Missense	14/14	-	1
2-204305284-C-G	c.2629G>C	p.A877P	Missense	14/14	-	1
2-204305290-G-C	c.2623C>G	p.P875A	Missense	14/14	-	1
2-204305298-G-C	c.2615C>G	p.P872R	Missense	14/14	-	1
2-204305302-G-A	c.2611C>T	p.P871S	Missense	14/14	-	1
2-204305303-T-A	c.2610A>T	p.P870=	Synonymous	14/14	-	1
2-204305303-T-C	c.2610A>G	p.P870=	Synonymous	14/14	-	1
2-204305303-T-G	c.2610A>C	p.P870=	Synonymous	14/14	-	1
2-204305305-G-T	c.2608C>A	p.P870T	Missense	14/14	-	2
2-204305313-C-G	c.2600G>C	p.S867T	Missense	14/14	-	1
2-204305314-T-A	c.2599A>T	p.S867C	Missense	14/14	-	1
2-204305324-C-A	c.2589G>T	p.K863N	Missense	14/14	-	1
2-204305324-C-G	c.2589G>C	p.K863N	Missense	14/14	-	2
2-204305327-C-A	c.2586G>T	p.V862=	Synonymous	14/14	-	1
2-204305329-C-T	c.2584G>A	p.V862M	Missense	14/14	-	3
2-204305333-C-A	c.2580G>T	p.S860=	Synonymous	14/14	-	1
2-204305333-C-G	c.2580G>C	p.S860=	Synonymous	14/14	-	1
2-204305333-C-T	c.2580G>A	p.S860=	Synonymous	14/14	-	1
2-204305334-G-A	c.2579C>T	p.S860L	Missense	14/14	-	1
2-204305335-A-G	c.2578T>C	p.S860P	Missense	14/14	-	1
2-204305337-G-A	c.2576C>T	p.P859L	Missense	14/14	-	1
2-204305338-G-T	c.2575C>A	p.P859T	Missense	14/14	-	1
2-204305343-G-A	c.2570C>T	p.P857L	Missense	14/14	-	4
2-204305353-G-A	c.2560C>T	p.P854S	Missense	14/14	-	1
2-204305356-A-G	c.2557T>C	p.S853P	Missense	14/14	-	1
2-204305357-G-A	c.2556C>T	p.P852=	Synonymous	14/14	-	1
2-204305357-G-C	c.2556C>G	p.P852=	Synonymous	14/14	-	1
2-204305357-G-T	c.2556C>A	p.P852=	Synonymous	14/14	-	1
2-204305361-G-A	c.2552C>T	p.P851L	Missense	14/14	-	1
2-204305366-T-A	c.2547A>T	p.K849N	Missense	14/14	-	1
2-204305366-T-G	c.2547A>C	p.K849N	Missense	14/14	-	1
2-204305381-C-T	c.2532G>A	p.Q844=	Synonymous	14/14	-	2
2-204305389-T-G	c.2524A>C	p.K842Q	Missense	14/14	-	1
2-204305391-G-A	c.2522C>T	p.P841L	Missense	14/14	-	1
2-204305395-A-T	c.2518T>A	p.L840I	Missense	14/14	-	1
2-204305401-G-C	c.2512C>G	p.P838A	Missense	14/14	-	1
2-204305402-C-A	c.2511G>T	p.P837=	Synonymous	14/14	-	2
2-204305402-C-G	c.2511G>C	p.P837=	Synonymous	14/14	-	2
2-204305402-C-T	c.2511G>A	p.P837=	Synonymous	14/14	-	2
2-204305403-G-A	c.2510C>T	p.P837L	Missense	14/14	-	1
2-204305403-G-C	c.2510C>G	p.P837R	Missense	14/14	-	1
2-204305407-G-A	c.2506C>T	p.P836S	Missense	14/14	-	1
2-204305416-C-G	c.2497G>C	p.V833L	Missense	14/14	-	1
2-204305416-C-T	c.2497G>A	p.V833I	Missense	14/14	-	1
2-204305419-G-A	c.2494C>T	p.P832S	Missense	14/14	-	1
2-204305427-G-T	c.2486C>A	p.P829H	Missense	14/14	-	6
2-204305432-A-C	c.2481T>G	p.S827=	Synonymous	14/14	-	1
2-204305432-A-G	c.2481T>C	p.S827=	Synonymous	14/14	-	1
2-204305432-A-T	c.2481T>A	p.S827=	Synonymous	14/14	-	1
2-204305442-A-G	c.2471T>C	p.I824T	Missense	14/14	-	1
2-204305445-T-C	c.2468A>G	p.Y823C	Missense	14/14	-	1
2-204305455-G-A	c.2458C>T	p.P820S	Missense	14/14	-	3
2-204305456-G-A	c.2457C>T	p.F819=	Synonymous	14/14	-	1
2-204305456-G-T	c.2457C>A	p.F819L	Missense	14/14	-	5
2-204305461-C-T	c.2452G>A	p.A818T	Missense	14/14	-	1
2-204305462-TG-T	c.2450del	p.P817Qfs*46	Frameshift	14/14	-	2
2-204305470-T-TA	c.2442_2443insT	p.K815*	Nonsense	14/14	-	1
2-204305482-G-C	c.2431C>G	p.P811A	Missense	14/14	-	1
2-204305484-A-G	c.2429T>C	p.V810A	Missense	14/14	-	1
2-204305500-T-G	c.2413A>C	p.T805P	Missense	14/14	-	1
2-204305506-G-A	c.2407C>T	p.P803S	Missense	14/14	-	1
2-204305512-C-T	c.2401G>A	p.A801T	Missense	14/14	-	1
2-204305514-T-C	c.2399A>G	p.Q800R	Missense	14/14	-	1
2-204305529-G-A	c.2384C>T	p.A795V	Missense	14/14	-	1
2-204305533-C-A	c.2380G>T	p.V794L	Missense	14/14	-	1
2-204305533-C-G	c.2380G>C	p.V794L	Missense	14/14	-	1
2-204305539-T-G	c.2374A>C	p.K792Q	Missense	14/14	-	1
2-204305542-T-G	c.2371A>C	p.T791P	Missense	14/14	-	1
2-204305544-CT-GG	c.2368_2369delinsCC	p.S790P	Missense	14/14	-	1
2-204305550-G-A	c.2363C>T	p.P788L	Missense	14/14	-	1
2-204305554-C-G	c.2359G>C	p.A787P	Missense	14/14	-	1
2-204305554-C-T	c.2359G>A	p.A787T	Missense	14/14	-	1
2-204305555-G-A	c.2358C>T	p.P786=	Synonymous	14/14	-	1
2-204305557-G-C	c.2356C>G	p.P786A	UnclassifiedSNV	14/14	-	1
2-204305558-G-C	c.2355C>G	p.I785M	Missense	14/14	-	1
2-204305559-A-G	c.2354T>C	p.I785T	Missense	14/14	-	1
2-204305567-A-C	c.2346T>G	p.L782=	Synonymous	14/14	-	1
2-204305567-A-G	c.2346T>C	p.L782=	Synonymous	14/14	-	1
2-204305567-A-T	c.2346T>A	p.L782=	Synonymous	14/14	-	1
2-204305568-A-G	c.2345T>C	p.L782P	Missense	14/14	-	4
2-204305571-G-A	c.2342C>T	p.P781L	Missense	14/14	-	1
2-204305572-G-A	c.2341C>T	p.P781S	Missense	14/14	-	1
2-204305576-T-G	c.2337A>C	p.P779=	Synonymous	14/14	-	1
2-204305577-G-A	c.2336C>T	p.P779L	Missense	14/14	-	1
2-204305580-G-A	c.2333C>T	p.P778L	Missense	14/14	-	2
2-204305576-TG-T	c.2336del	p.P779Qfs*5	Frameshift	14/14	-	2
2-204305582-A-C	c.2331T>G	p.A777=	Synonymous	14/14	-	1
2-204305582-A-G	c.2331T>C	p.A777=	Synonymous	14/14	-	3
2-204305582-A-T	c.2331T>A	p.A777=	Synonymous	14/14	-	1
2-204305583-G-C	c.2330C>G	p.A777G	Missense	14/14	-	1
2-204305590-G-A	c.2323C>T	p.P775S	Missense	14/14	-	1
2-204305591-A-C	c.2322T>G	p.P774=	Synonymous	14/14	-	1
2-204305591-A-G	c.2322T>C	p.P774=	Synonymous	14/14	-	1
2-204305591-A-T	c.2322T>A	p.P774=	Synonymous	14/14	-	1
2-204305595-A-G	c.2318T>C	p.L773P	Missense	14/14	-	1
2-204305597-G-T	c.2316C>A	p.P772=	Synonymous	14/14	-	1
2-204305602-C-G	c.2311G>C	p.A771P	Missense	14/14	-	2
2-204305608-T-G	c.2305A>C	p.I769L	Missense	14/14	-	1
2-204305609-A-G	c.2304T>C	p.P768=	Synonymous	14/14	-	1
2-204305611-G-T	c.2302C>A	p.P768T	Missense	14/14	-	1
2-204305612-A-G	c.2301T>C	p.P767=	Synonymous	14/14	-	1
2-204305615-A-C	c.2298T>G	p.P766=	Synonymous	14/14	-	1
2-204305615-A-G	c.2298T>C	p.P766=	Synonymous	14/14	-	2
2-204305615-A-T	c.2298T>A	p.P766=	Synonymous	14/14	-	1
2-204305616-G-C	c.2297C>G	p.P766R	Missense	14/14	-	1
2-204305617-G-GT	c.2295dup	p.P766Tfs*157	Frameshift	14/14	-	1
2-204305618-GT-G	c.2295del	p.P766Lfs*18	Frameshift	14/14	-	1
2-204305618-T-A	c.2295A>T	p.P765=	Synonymous	14/14	-	4
2-204305618-T-C	c.2295A>G	p.P765=	Synonymous	14/14	-	5
2-204305618-T-G	c.2295A>C	p.P765=	Synonymous	14/14	-	6
2-204305619-G-A	c.2294C>T	p.P765L	Missense	14/14	-	1
2-204305622-G-T	c.2291C>A	p.P764H	Missense	14/14	-	1
2-204305618-TG-T	c.2294del	p.P765Hfs*19	Frameshift	14/14	-	5
2-204305618-T-TG	c.2294dup	p.P766Tfs*157	Frameshift	14/14	-	3
2-204305630-T-A	c.2283A>T	p.P761=	Synonymous	14/14	-	1
2-204305630-T-C	c.2283A>G	p.P761=	Synonymous	14/14	-	1
2-204305630-T-G	c.2283A>C	p.P761=	Synonymous	14/14	-	1
2-204305657-A-C	c.2256T>G	p.V752=	Synonymous	14/14	-	1
2-204305657-A-G	c.2256T>C	p.V752=	Synonymous	14/14	-	1
2-204305657-A-T	c.2256T>A	p.V752=	Synonymous	14/14	-	1
2-204305666-G-A	c.2247C>T	p.I749=	Synonymous	14/14	-	1
2-204305666-G-C	c.2247C>G	p.I749M	Missense	14/14	-	1
2-204305683-G-A	c.2230C>T	p.P744S	Missense	14/14	-	1
2-204305684-C-A	c.2229G>T	p.P743=	Synonymous	14/14	-	1
2-204305684-C-G	c.2229G>C	p.P743=	Synonymous	14/14	-	1
2-204305684-C-T	c.2229G>A	p.P743=	Synonymous	14/14	-	1
2-204305685-G-A	c.2228C>T	p.P743L	Missense	14/14	-	4
2-204305686-G-T	c.2227C>A	p.P743T	Missense	14/14	-	1
2-204305687-G-A	c.2226C>T	p.A742=	Synonymous	14/14	-	1
2-204305688-G-A	c.2225C>T	p.A742V	Missense	14/14	-	1
2-204305690-A-C	c.2223T>G	p.S741R	Missense	14/14	-	1
2-204305690-A-T	c.2223T>A	p.S741R	Missense	14/14	-	1
2-204305692-T-G	c.2221A>C	p.S741R	Missense	14/14	-	1
2-204305713-C-A	c.2200G>T	p.A734S	Missense	14/14	-	1
2-204305713-C-T	c.2200G>A	p.A734T	Missense	14/14	-	3
2-204305714-A-G	c.2199T>C	p.C733=	Synonymous	14/14	-	1
2-204305717-C-A	c.2196G>T	p.P732=	Synonymous	14/14	-	1
2-204305717-C-G	c.2196G>C	p.P732=	Synonymous	14/14	-	1
2-204305717-C-T	c.2196G>A	p.P732=	Synonymous	14/14	-	2
2-204305721-G-A	c.2192C>T	p.A731V	Missense	14/14	-	1
2-204305727-T-C	c.2186A>G	p.K729R	Missense	14/14	-	1
2-204305731-G-T	c.2182C>A	p.L728I	Missense	14/14	-	1
2-204305743-C-G	c.2170G>C	p.A724P	Missense	14/14	-	1
2-204305745-GA-AG	c.2167_2168delinsCT	p.S723L	Missense	14/14	-	1
2-204305758-G-T	c.2155C>A	p.P719T	Missense	14/14	-	1
2-204305762-T-A	c.2151A>T	p.P717=	Synonymous	14/14	-	1
2-204305762-T-C	c.2151A>G	p.P717=	Synonymous	14/14	-	1
2-204305762-T-G	c.2151A>C	p.P717=	Synonymous	14/14	-	1
2-204305763-G-A	c.2150C>T	p.P717L	Missense	14/14	-	1
2-204305764-G-A	c.2149C>T	p.P717S	Missense	14/14	-	1
2-204305768-A-C	c.2145T>G	p.P715=	Synonymous	14/14	-	2
2-204305768-A-G	c.2145T>C	p.P715=	Synonymous	14/14	-	4
2-204305768-A-T	c.2145T>A	p.P715=	Synonymous	14/14	-	2
2-204305769-G-A	c.2144C>T	p.P715L	Missense	14/14	-	1
2-204305771-G-C	c.2142C>G	p.P714=	Synonymous	14/14	-	1
2-204305774-A-C	c.2139T>G	p.P713=	Synonymous	14/14	-	2
2-204305774-A-G	c.2139T>C	p.P713=	Synonymous	14/14	-	3
2-204305774-A-T	c.2139T>A	p.P713=	Synonymous	14/14	-	2
2-204305774-AG-A	c.2138del	p.P713Lfs*16	Frameshift	14/14	-	1
2-204305780-T-A	c.2133A>T	p.P711=	Synonymous	14/14	-	1
2-204305780-T-C	c.2133A>G	p.P711=	Synonymous	14/14	-	1
2-204305780-T-G	c.2133A>C	p.P711=	Synonymous	14/14	-	1
2-204305783-T-A	c.2130A>T	p.P710=	Synonymous	14/14	-	1
2-204305783-T-C	c.2130A>G	p.P710=	Synonymous	14/14	-	1
2-204305783-T-G	c.2130A>C	p.P710=	Synonymous	14/14	-	1
2-204305783-TG-T	c.2129del	p.P710Hfs*19	Frameshift	14/14	-	1
2-204305785-G-T	c.2128C>A	p.P710T	Missense	14/14	-	1
2-204305787-A-C	c.2126T>G	p.V709G	Missense	14/14	-	1
2-204305790-A-C	c.2123T>G	p.V708G	Missense	14/14	-	1
2-204305792-T-C	c.2121A>G	p.G707=	Synonymous	14/14	-	1
2-204305795-AT-A	c.2117del	p.N706Mfs*23	Frameshift	14/14	-	1
2-204305797-T-G	c.2116A>C	p.N706H	Missense	14/14	-	1
2-204305799-G-C	c.2114C>G	p.P705R	Missense	14/14	-	2
2-204305802-G-A	c.2111C>T	p.P704L	Missense	14/14	-	1
2-204305797-TG-T	c.2115del	p.N706Mfs*23	Frameshift	14/14	-	2
2-204305807-C-A	c.2106G>T	p.L702=	Synonymous	14/14	-	1
2-204305815-G-A	c.2098C>T	p.Q700*	Nonsense	14/14	-	2
2-204305821-T-C	c.2092A>G	p.K698E	Missense	14/14	-	1
2-204305825-TGA-GTT	c.2086_2088delinsAAC	p.S696N	Missense	14/14	-	1
2-204305829-T-G	c.2084A>C	p.Q695P	Missense	14/14	-	1
2-204305832-G-C	c.2081C>G	p.S694*	Nonsense	14/14	-	1
2-204305832-G-T	c.2081C>A	p.S694*	Nonsense	14/14	-	1
2-204305835-T-C	c.2078A>G	p.Q693R	Missense	14/14	-	1
2-204305835-T-G	c.2078A>C	p.Q693P	Missense	14/14	-	1
2-204305846-G-A	c.2067C>T	p.P689=	Synonymous	14/14	-	1
2-204305846-G-C	c.2067C>G	p.P689=	Synonymous	14/14	-	1
2-204305846-G-T	c.2067C>A	p.P689=	Synonymous	14/14	-	1
2-204305847-G-A	c.2066C>T	p.P689L	Missense	14/14	-	1
2-204305851-T-C	c.2062A>G	p.T688A	Missense	14/14	-	1
2-204305855-C-A	c.2058G>T	p.P686=	Synonymous	14/14	-	1
2-204305855-C-G	c.2058G>C	p.P686=	Synonymous	14/14	-	1
2-204305855-C-T	c.2058G>A	p.P686=	Synonymous	14/14	-	2
2-204305856-G-A	c.2057C>T	p.P686L	Missense	14/14	-	1
2-204305857-G-A	c.2056C>T	p.P686S	Missense	14/14	-	1
2-204305874-GA-CC	c.2038_2039delinsGG	p.S680G	Missense	14/14	-	1
2-204305874-G-T	c.2039C>A	p.S680*	Nonsense	14/14	-	1
2-204305879-C-T	c.2034G>A	p.Q678=	Synonymous	14/14	-	1
2-204305881-G-A	c.2032C>T	p.Q678*	Nonsense	14/14	-	1
2-204305886-G-A	c.2027C>T	p.A676V	Missense	14/14	-	1
2-204305898-C-A	c.2015G>T	p.R672L	Missense	14/14	-	3
2-204305899-G-A	c.2014C>T	p.R672W	Missense	14/14	-	1
2-204305901-G-A	c.2012C>T	p.T671I	Missense	14/14	-	1
2-204305905-T-C	c.2008A>G	p.I670V	Missense	14/14	-	1
2-204305915-AC-A	c.1998del	p.K666Nfs*5	Frameshift	14/14	-	1
2-204305920-C-T	c.1993G>A	p.V665I	Missense	14/14	-	5
2-204305921-G-A	c.1992C>T	p.F664=	Synonymous	14/14	-	1
2-204305924-C-T	c.1989G>A	p.M663I	Missense	14/14	-	1
2-204305931-G-A	c.1982C>T	p.A661V	Missense	14/14	-	1
2-204305937-G-A	c.1976C>T	p.S659L	Missense	14/14	-	1
2-204305946-GA-AG	c.1966_1967delinsCT	p.S656L	Missense	14/14	-	1
2-204305949-G-T	c.1964C>A	p.P655H	Missense	14/14	-	1
2-204305959-G-T	c.1954C>A	p.Q652K	Missense	14/14	-	1
2-204305964-G-T	c.1949C>A	p.P650H	Missense	14/14	-	1
2-204305967-A-G	c.1946T>C	p.L649P	Missense	14/14	-	1
2-204305971-G-A	c.1942C>T	p.P648S	Missense	14/14	-	1
2-204305972-G-A	c.1941C>T	p.P647=	Synonymous	14/14	-	1
2-204305975-A-C	c.1938T>G	p.P646=	Synonymous	14/14	-	1
2-204305975-A-G	c.1938T>C	p.P646=	Synonymous	14/14	-	1
2-204305975-A-T	c.1938T>A	p.P646=	Synonymous	14/14	-	1
2-204305977-G-C	c.1936C>G	p.P646A	Missense	14/14	-	4
2-204305979-G-A	c.1934C>T	p.P645L	Missense	14/14	-	2
2-204305978-AG-A	c.1934del	p.P645Lfs*26	Frameshift	14/14	-	1
2-204305987-T-A	c.1926A>T	p.P642=	Synonymous	14/14	-	1
2-204305987-T-C	c.1926A>G	p.P642=	Synonymous	14/14	-	1
2-204305987-T-G	c.1926A>C	p.P642=	Synonymous	14/14	-	2
2-204305989-G-T	c.1924C>A	p.P642T	Missense	14/14	-	2
2-204305990-A-C	c.1923T>G	p.P641=	Synonymous	14/14	-	1
2-204305990-A-G	c.1923T>C	p.P641=	Synonymous	14/14	-	2
2-204305990-A-T	c.1923T>A	p.P641=	Synonymous	14/14	-	1
2-204305993-G-A	c.1920C>T	p.P640=	Synonymous	14/14	-	1
2-204305993-G-C	c.1920C>G	p.P640=	Synonymous	14/14	-	1
2-204305996-T-A	c.1917A>T	p.P639=	Synonymous	14/14	-	1
2-204305996-T-C	c.1917A>G	p.P639=	Synonymous	14/14	-	1
2-204305996-T-G	c.1917A>C	p.P639=	Synonymous	14/14	-	1
2-204306002-A-G	c.1911T>C	p.P637=	Synonymous	14/14	-	1
2-204306004-G-A	c.1909C>T	p.P637S	Missense	14/14	-	1
2-204306005-A-G	c.1908T>C	p.P636=	Synonymous	14/14	-	1
2-204306007-G-A	c.1906C>T	p.P636S	Missense	14/14	-	1
2-204306011-T-A	c.1902A>T	p.P634=	Synonymous	14/14	-	1
2-204306011-T-C	c.1902A>G	p.P634=	Synonymous	14/14	-	1
2-204306011-T-G	c.1902A>C	p.P634=	Synonymous	14/14	-	2
2-204306013-G-A	c.1900C>T	p.P634S	Missense	14/14	-	3
2-204306019-G-A	c.1894C>T	p.P632S	Missense	14/14	-	1
2-204306020-CG-AT	c.1892_1893delinsAT	p.P631H	Missense	14/14	-	1
2-204306030-A-C	c.1883T>G	p.L628R	Missense	14/14	-	1
2-204306047-T-C	c.1866A>G	p.S622=	Synonymous	14/14	-	1
2-204306051-G-T	c.1862C>A	p.A621D	Missense	14/14	-	2
2-204306060-G-A	c.1853C>T	p.P618L	Missense	14/14	-	1
2-204306061-G-C	c.1852C>G	p.P618A	Missense	14/14	-	1
2-204306066-A-G	c.1847T>C	p.V616A	Missense	14/14	-	1
2-204306080-C-T	c.1833G>A	p.P611P	UnclassifiedSNV	14/14	-	1
2-204306081-G-A	c.1832C>T	p.P611L	Missense	14/14	-	4
2-204306082-G-A	c.1831C>T	p.P611S	Missense	14/14	-	1
2-204306084-G-A	c.1829C>T	p.S610F	Missense	14/14	-	1
2-204306087-A-G	c.1826T>C	p.L609S	Missense	14/14	-	1
2-204306088-A-C	c.1825T>G	p.L609V	Missense	14/14	-	2
2-204306093-G-A	c.1820C>T	p.P607L	Missense	14/14	-	1
2-204306102-G-A	c.1811C>T	p.S604L	Missense	14/14	-	3
2-204306104-A-G	c.1809T>C	p.T603=	Synonymous	14/14	-	1
2-204306105-G-A	c.1808C>T	p.T603I	Missense	14/14	-	1
2-204306111-G-A	c.1802C>T	p.P601L	Missense	14/14	-	1
2-204306114-C-T	c.1799G>A	p.R600Q	Missense	14/14	-	1
2-204306115-G-A	c.1798C>T	p.R600W	Missense	14/14	-	1
2-204306125-C-T	c.1788G>A	p.E596=	Synonymous	14/14	-	1
2-204306129-A-C	c.1784T>G	p.M595R	Missense	14/14	-	1
2-204306131-TCT-CCA	c.1780_1782delinsTGG	p.R594W	Missense	14/14	-	1
2-204306134-G-T	c.1779C>A	p.A593=	Synonymous	14/14	-	1
2-204306356-A-C	c.1777-220T>G	-	IntronicSNV	-	13/13	1
2-204306356-A-G	c.1777-220T>C	-	IntronicSNV	-	13/13	1
2-204306433-T-C	c.1777-297A>G	-	IntronicSNV	-	13/13	1
2-204306452-T-C	c.1777-316A>G	-	IntronicSNV	-	13/13	2
2-204306737-T-C	c.1777-601A>G	-	IntronicSNV	-	13/13	1
2-204307216-C-T	c.1777-1080G>A	-	IntronicSNV	-	13/13	1
2-204309510-G-A	c.1776+81C>T	-	IntronicSNV	-	13/13	1
2-204309540-C-T	c.1776+51G>A	-	IntronicSNV	-	13/13	1
2-204309573-T-C	c.1776+18A>G	-	IntronicSNV	-	13/13	1
2-204309597-G-A	c.1770C>T	p.S590=	Synonymous	13/14	-	1
2-204309598-G-A	c.1769C>T	p.S590F	Missense	13/14	-	1
2-204309604-T-C	c.1763A>G	p.E588G	Missense	13/14	-	1
2-204309620-G-A	c.1747C>T	p.R583*	Nonsense	13/14	-	1
2-204309628-G-A	c.1739C>T	p.A580V	Missense	13/14	-	1
2-204309630-T-A	c.1737A>T	p.E579D	Missense	13/14	-	1
2-204309641-C-T	c.1726G>A	p.V576I	Missense	13/14	-	1
2-204309642-G-A	c.1725C>T	p.S575=	Synonymous	13/14	-	1
2-204309642-G-C	c.1725C>G	p.S575=	Synonymous	13/14	-	1
2-204309642-G-T	c.1725C>A	p.S575=	Synonymous	13/14	-	1
2-204309644-A-C	c.1723T>G	p.S575A	Missense	13/14	-	4
2-204309652-A-C	c.1715T>G	p.I572S	Missense	13/14	-	1
2-204309653-T-C	c.1714A>G	p.I572V	Missense	13/14	-	1
2-204309655-C-A	c.1712G>T	p.S571I	Missense	13/14	-	1
2-204309663-ACG-TCA	c.1702_1704delinsTGA	p.R568*	Nonsense	13/14	-	1
2-204309665-G-A	c.1702C>T	p.R568C	Missense	13/14	-	9
2-204309667-A-G	c.1700T>C	p.V567A	Missense	13/14	-	1
2-204309668-C-T	c.1699G>A	p.V567I	Missense	13/14	-	3
2-204309672-TCC-ACA	c.1693_1695delinsTGT	p.G565C	Missense	13/14	-	1
2-204309677-C-A	c.1690G>T	p.A564S	Missense	13/14	-	1
2-204309678-T-A	c.1689A>T	p.P563=	Synonymous	13/14	-	1
2-204309680-G-A	c.1687C>T	p.P563S	Missense	13/14	-	1
2-204309684-GG-CC	c.1682_1683inv	p.T561R	Missense	13/14	-	1
2-204309686-T-G	c.1681A>C	p.T561P	Missense	13/14	-	1
2-204309689-C-A	c.1678G>T	p.D560Y	Missense	13/14	-	2
2-204309691-G-A	c.1676C>T	p.S559F	Missense	13/14	-	1
2-204309694-ACTC-A	c.1670_1672del	p.G557del	InFrameDeletion	13/14	-	1
2-204309697-C-A	c.1670G>T	p.G557V	Missense	13/14	-	1
2-204309697-C-G	c.1670G>C	p.G557A	Missense	13/14	-	1
2-204309698-C-G	c.1669G>C	p.G557R	Missense	13/14	-	1
2-204309698-C-T	c.1669G>A	p.G557R	Missense	13/14	-	3
2-204309709-T-C	c.1658A>G	p.Q553R	Missense	13/14	-	1
2-204309710-G-A	c.1657C>T	p.Q553*	Nonsense	13/14	-	1
2-204309730-G-A	c.1637C>T	p.S546F	Missense	13/14	-	1
2-204309732-AC-A	c.1635del	p.E545Dfs*29	Frameshift	13/14	-	1
2-204312675-G-A	c.1633+7C>T	-	IntronicSNV	-	12/13	1
2-204312682-C-CA	c.1632_1633insT	p.E545*	SpliceDonorInsertion	12/14	-	1
2-204312682-C-CG	c.1632_1633insC	p.E545Rfs*11	SpliceDonorInsertion	12/14	-	1
2-204312682-C-CT	c.1632dup	p.E545Rfs*11	SpliceDonorInsertion	12/14	-	1
2-204312690-C-T	c.1625G>A	p.S542N	Missense	12/14	-	1
2-204312706-C-G	c.1609G>C	p.G537R	Missense	12/14	-	1
2-204312706-C-T	c.1609G>A	p.G537R	Missense	12/14	-	1
2-204312732-GA-CG	c.1582_1583delinsCG	p.S528R	Missense	12/14	-	1
2-204312747-G-GGTT	c.1567_1568insAAC	p.A523delinsEP	MultiAAMissense	12/14	-	1
2-204312750-G-A	c.1565C>T	p.S522L	Missense	12/14	-	1
2-204312754-C-T	c.1561G>A	p.E521K	Missense	12/14	-	1
2-204312757-T-C	c.1558A>G	p.T520A	Missense	12/14	-	1
2-204312788-G-A	c.1527C>T	p.L509=	Synonymous	12/14	-	3
2-204312788-G-C	c.1527C>G	p.L509=	Synonymous	12/14	-	2
2-204312789-A-G	c.1526T>C	p.L509P	Missense	12/14	-	1
2-204312790-G-A	c.1525C>T	p.L509F	Missense	12/14	-	1
2-204312797-C-T	c.1518G>A	p.G506=	Synonymous	12/14	-	1
2-204312801-T-C	c.1514A>G	p.Y505C	Missense	12/14	-	1
2-204313465-G-A	c.1508C>T	p.A503V	Missense	11/14	-	1
2-204313471-C-T	c.1502G>A	p.R501H	Missense	11/14	-	2
2-204313472-G-A	c.1501C>T	p.R501C	Missense	11/14	-	1
2-204313484-C-G	c.1489G>C	p.V497L	Missense	11/14	-	1
2-204313486-C-A	c.1487G>T	p.W496L	Missense	11/14	-	1
2-204313497-T-C	c.1476A>G	p.T492=	Synonymous	11/14	-	1
2-204313497-TG-CA	c.1475_1476inv	p.T492M	Missense	11/14	-	2
2-204313498-G-A	c.1475C>T	p.T492I	Missense	11/14	-	3
2-204313500-C-T	c.1473G>A	p.R491=	Synonymous	11/14	-	1
2-204313502-T-G	c.1471A>C	p.R491=	Synonymous	11/14	-	1
2-204313512-A-T	c.1461T>A	p.C487*	Nonsense	11/14	-	1
2-204313530-A-G	c.1443T>C	p.Y481=	Synonymous	11/14	-	1
2-204313535-G-A	c.1438C>T	p.Q480*	Nonsense	11/14	-	2
2-204313555-G-A	c.1418C>T	p.P473L	Missense	11/14	-	5
2-204319193-T-A	c.1373A>T	p.N458I	Missense	10/14	-	1
2-204319195-C-A	c.1371G>T	p.R457=	Synonymous	10/14	-	1
2-204319195-C-G	c.1371G>C	p.R457=	Synonymous	10/14	-	1
2-204319195-C-T	c.1371G>A	p.R457=	Synonymous	10/14	-	1
2-204319197-G-A	c.1369C>T	p.R457W	Missense	10/14	-	1
2-204319197-G-T	c.1369C>A	p.R457=	Synonymous	10/14	-	1
2-204319199-T-C	c.1367A>G	p.Y456C	Missense	10/14	-	1
2-204319211-T-C	c.1355A>G	p.Y452C	Missense	10/14	-	1
2-204319218-C-T	c.1348G>A	p.V450I	Missense	10/14	-	1
2-204319224-C-T	c.1342G>A	p.V448I	Missense	10/14	-	1
2-204319232-A-G	c.1334T>C	p.L445P	Missense	10/14	-	1
2-204319237-G-A	c.1329C>T	p.L443=	Synonymous	10/14	-	1
2-204319243-G-A	c.1323C>T	p.C441=	Synonymous	10/14	-	2
2-204319246-C-T	c.1320G>A	p.V440=	Synonymous	10/14	-	1
2-204319248-C-A	c.1318G>T	p.V440L	Missense	10/14	-	1
2-204319257-G-A	c.1309C>T	p.R437W	Missense	10/14	-	1
2-204319259-G-A	c.1307C>T	p.S436F	Missense	10/14	-	2
2-204319260-A-T	c.1306T>A	p.S436T	Missense	10/14	-	1
2-204319278-C-T	c.1303-15G>A	-	IntronicSNV	-	9/13	1
2-204320152-G-A	c.1302+8C>T	-	IntronicSNV	-	9/13	1
2-204320154-A-G	c.1302+6T>C	-	IntronicSNV	-	9/13	1
2-204320161-T-C	c.1301A>G	p.K434R	Missense	9/14	-	1
2-204320160-CTT-C	c.1300_1301del	p.K434Gfs*54	SpliceDonorDeletion	9/14	-	1
2-204320166-T-C	c.1296A>G	p.K432=	Synonymous	9/14	-	3
2-204320175-G-T	c.1287C>A	p.P429=	Synonymous	9/14	-	1
2-204320177-G-A	c.1285C>T	p.P429S	Missense	9/14	-	1
2-204320185-T-A	c.1277A>T	p.Y426F	Missense	9/14	-	1
2-204320191-C-G	c.1271G>C	p.G424A	Missense	9/14	-	1
2-204320199-TCG-ACA	c.1261_1263delinsTGT	p.R421C	Missense	9/14	-	1
2-204320201-G-A	c.1261C>T	p.R421*	Nonsense	9/14	-	3
2-204320201-G-C	c.1261C>G	p.R421G	Missense	9/14	-	1
2-204320202-C-G	c.1260G>C	p.L420F	Missense	9/14	-	1
2-204320207-G-C	c.1255C>G	p.L419V	Missense	9/14	-	3
2-204320214-A-G	c.1248T>C	p.R416=	Synonymous	9/14	-	1
2-204320215-CG-GC	c.1246_1247delinsGC	p.R416A	Missense	9/14	-	1
2-204320221-TT-GC	c.1240_1241delinsGC	p.K414A	Missense	9/14	-	1
2-204320224-C-A	c.1238G>T	p.W413L	Missense	9/14	-	1
2-204320229-C-A	c.1233G>T	p.K411N	Missense	9/14	-	1
2-204320229-C-G	c.1233G>C	p.K411N	Missense	9/14	-	1
2-204320234-T-C	c.1228A>G	p.K410E	Missense	9/14	-	1
2-204320236-GCC-G	c.1225_1226del	p.G409Qfs*79	Frameshift	9/14	-	1
2-204320242-ATC-A	c.1219_1220del	p.D407*	Frameshift	9/14	-	1
2-204320255-G-A	c.1207C>T	p.L403F	Missense	9/14	-	1
2-204320256-G-A	c.1206C>T	p.V402=	Synonymous	9/14	-	1
2-204320264-C-T	c.1198G>A	p.E400K	Missense	9/14	-	4
2-204320270-C-T	c.1192G>A	p.E398K	Missense	9/14	-	1
2-204320276-C-A	c.1186G>T	p.V396L	Missense	9/14	-	1
2-204320290-C-T	c.1172G>A	p.G391E	Missense	9/14	-	1
2-204320294-A-G	c.1168T>C	p.C390R	Missense	9/14	-	2
2-204322019-C-T	c.1158+234G>A	-	IntronicSNV	-	8/13	1
2-204322165-C-A	c.1158+88G>T	-	IntronicSNV	-	8/13	1
2-204322255-C-T	c.1156G>A	p.E386K	Missense	8/14	-	1
2-204322257-A-ATTTTATTTATTTATTTATTTATTT	c.1153_1154insAAATAAATAAATAAATAAATAAAA	p.L385delins*	Nonsense	8/14	-	1
2-204322261-G-A	c.1150C>T	p.L384F	Missense	8/14	-	1
2-204322264-C-T	c.1147G>A	p.V383I	Missense	8/14	-	1
2-204322265-TTC-T	c.1144_1145del	p.E382Sfs*18	Frameshift	8/14	-	1
2-204322267-C-A	c.1144G>T	p.E382*	Nonsense	8/14	-	1
2-204322271-G-C	c.1140C>G	p.N380K	Missense	8/14	-	1
2-204322271-G-T	c.1140C>A	p.N380K	Missense	8/14	-	1
2-204322272-T-C	c.1139A>G	p.N380S	Missense	8/14	-	1
2-204322279-C-G	c.1132G>C	p.D378H	Missense	8/14	-	1
2-204322283-C-A	c.1128G>T	p.M376I	Missense	8/14	-	2
2-204322288-C-T	c.1123G>A	p.E375K	Missense	8/14	-	1
2-204322298-T-C	c.1113A>G	p.K371=	Synonymous	8/14	-	14
2-204322299-T-C	c.1112A>G	p.K371R	Missense	8/14	-	3
2-204322300-T-G	c.1111A>C	p.K371Q	Missense	8/14	-	1
2-204322315-A-C	c.1096T>G	p.Y366D	Missense	8/14	-	1
2-204322317-T-C	c.1094A>G	p.N365S	Missense	8/14	-	1
2-204322387-C-T	c.1093-69G>A	-	IntronicSNV	-	7/13	1
2-204324641-T-G	c.1081A>C	p.K361Q	Missense	7/14	-	1
2-204324647-G-A	c.1075C>T	p.L359F	Missense	7/14	-	1
2-204324649-G-A	c.1073C>T	p.A358V	Missense	7/14	-	1
2-204324650-C-T	c.1072G>A	p.A358T	Missense	7/14	-	1
2-204324651-A-C	c.1071T>G	p.Y357*	Nonsense	7/14	-	2
2-204324651-A-T	c.1071T>A	p.Y357*	Nonsense	7/14	-	2
2-204324653-A-T	c.1069T>A	p.Y357N	Missense	7/14	-	1
2-204324665-G-A	c.1057C>T	p.R353C	Missense	7/14	-	2
2-204324665-G-T	c.1057C>A	p.R353S	Missense	7/14	-	1
2-204324676-A-G	c.1046T>C	p.I349T	Missense	7/14	-	1
2-204324678-A-C	c.1044T>G	p.L348=	Synonymous	7/14	-	1
2-204324678-A-G	c.1044T>C	p.L348=	Synonymous	7/14	-	1
2-204324678-A-T	c.1044T>A	p.L348=	Synonymous	7/14	-	1
2-204324680-G-A	c.1042C>T	p.L348F	Missense	7/14	-	1
2-204324681-C-T	c.1041G>A	p.K347=	Synonymous	7/14	-	1
2-204324689-G-A	c.1033C>T	p.Q345*	Nonsense	7/14	-	1
2-204324692-T-C	c.1030A>G	p.S344G	Missense	7/14	-	1
2-204324695-C-CA	c.1026_1027insT	p.D343*	Nonsense	7/14	-	1
2-204324695-C-T	c.1027G>A	p.D343N	Missense	7/14	-	1
2-204324696-TCT-ACA	c.1024_1026delinsTGT	p.R342C	Missense	7/14	-	1
2-204324696-TCT-ATG	c.1024_1026delinsCAT	p.R342H	Missense	7/14	-	1
2-204324705-A-G	c.1017T>C	p.N339=	Synonymous	7/14	-	1
2-204324723-C-T	c.999G>A	p.L333=	Synonymous	7/14	-	1
2-204324731-C-A	c.991G>T	p.E331*	Nonsense	7/14	-	1
2-204324731-C-T	c.991G>A	p.E331K	Missense	7/14	-	1
2-204324734-G-A	c.988C>T	p.H330Y	Missense	7/14	-	2
2-204324737-C-G	c.985G>C	p.D329H	Missense	7/14	-	1
2-204324737-C-T	c.985G>A	p.D329N	Missense	7/14	-	1
2-204324746-T-C	c.976A>G	p.I326V	Missense	7/14	-	1
2-204324748-C-A	c.974G>T	p.R325I	Missense	7/14	-	1
2-204324748-C-G	c.974G>C	p.R325T	Missense	7/14	-	3
2-204324748-C-CT	c.973dup	p.R325Kfs*4	Frameshift	7/14	-	1
2-204324749-T-TA	c.972_973insT	p.R325*	SpliceAcceptorInsertion	7/14	-	1
2-204324749-T-TG	c.972_973insC	p.R325Qfs*4	SpliceAcceptorInsertion	7/14	-	1
2-204324749-T-TC	c.972dup	p.R325Efs*4	SpliceAcceptorInsertion	7/14	-	1
2-204324773-G-A	c.971-22C>T	-	IntronicSNV	-	6/13	2
2-204325972-C-T	c.970G>A	p.E324K	Missense	6/14	-	1
2-204325975-T-C	c.967A>G	p.M323V	Missense	6/14	-	1
2-204325976-T-C	c.966A>G	p.Q322=	Synonymous	6/14	-	1
2-204325983-T-G	c.959A>C	p.E320A	Missense	6/14	-	1
2-204325990-C-G	c.952G>C	p.V318L	Missense	6/14	-	1
2-204325990-C-T	c.952G>A	p.V318I	Missense	6/14	-	4
2-204326003-T-C	c.939A>G	p.S313=	Synonymous	6/14	-	1
2-204326004-G-T	c.938C>A	p.S313*	Nonsense	6/14	-	1
2-204326012-T-C	c.930A>G	p.L310=	Synonymous	6/14	-	1
2-204326014-A-G	c.928T>C	p.L310=	Synonymous	6/14	-	1
2-204326020-A-G	c.922T>C	p.Y308H	Missense	6/14	-	1
2-204326023-C-T	c.919G>A	p.G307S	Missense	6/14	-	1
2-204326025-C-T	c.917G>A	p.C306Y	Missense	6/14	-	1
2-204326041-T-C	c.901A>G	p.M301V	Missense	6/14	-	1
2-204326047-T-C	c.895A>G	p.N299D	Missense	6/14	-	1
2-204326048-A-C	c.894T>G	p.D298E	Missense	6/14	-	1
2-204326048-A-T	c.894T>A	p.D298E	Missense	6/14	-	1
2-204326050-C-T	c.892G>A	p.D298N	Missense	6/14	-	1
2-204326061-C-T	c.881G>A	p.R294K	Missense	6/14	-	1
2-204326065-C-T	c.877G>A	p.V293I	Missense	6/14	-	1
2-204326068-T-A	c.874A>T	p.T292S	Missense	6/14	-	1
2-204326072-C-A	c.870G>T	p.R290S	Missense	6/14	-	1
2-204326072-C-G	c.870G>C	p.R290S	Missense	6/14	-	1
2-204326075-C-T	c.867G>A	p.E289=	Synonymous	6/14	-	1
2-204326080-C-T	c.862G>A	p.D288N	Missense	6/14	-	2
2-204326084-C-A	c.858G>T	p.M286I	Missense	6/14	-	2
2-204326090-T-C	c.852A>G	p.T284=	Synonymous	6/14	-	1
2-204326091-G-A	c.851C>T	p.T284I	Missense	6/14	-	1
2-204326092-T-C	c.850A>G	p.T284A	Missense	6/14	-	1
2-204326107-C-A	c.835G>T	p.D279Y	Missense	6/14	-	1
2-204326109-G-A	c.833C>T	p.S278F	Missense	6/14	-	1
2-204326111-C-T	c.831G>A	p.M277I	Missense	6/14	-	1
2-204326114-G-A	c.828C>T	p.H276=	Synonymous	6/14	-	1
2-204326122-T-C	c.820A>G	p.R274G	Missense	6/14	-	1
2-204326124-A-G	c.818T>C	p.I273T	Missense	6/14	-	1
2-204326125-T-A	c.817A>T	p.I273F	Missense	6/14	-	1
2-204326130-A-C	c.812T>G	p.L271R	Missense	6/14	-	1
2-204326130-A-G	c.812T>C	p.L271P	Missense	6/14	-	1
2-204326572-T-G	c.809A>C	p.K270T	Missense	5/14	-	1
2-204326579-C-T	c.802G>A	p.V268M	Missense	5/14	-	1
2-204326584-G-A	c.797C>T	p.A266V	Missense	5/14	-	1
2-204326584-GCCT-G	c.794_796del	p.E265del	InFrameDeletion	5/14	-	1
2-204326586-C-T	c.795G>A	p.E265=	Synonymous	5/14	-	2
2-204326600-C-G	c.781G>C	p.E261Q	Missense	5/14	-	1
2-204326605-G-A	c.776C>T	p.A259V	Missense	5/14	-	1
2-204326607-AAC-CAT	c.772_774delinsATG	p.V258M	Missense	5/14	-	1
2-204326610-TCT-CCA	c.769_771delinsTGG	p.R257W	Missense	5/14	-	1
2-204326611-C-G	c.770G>C	p.R257T	Missense	5/14	-	1
2-204326612-T-C	c.769A>G	p.R257G	Missense	5/14	-	2
2-204326613-G-A	c.768C>T	p.I256=	Synonymous	5/14	-	3
2-204326613-G-T	c.768C>A	p.I256=	Synonymous	5/14	-	2
2-204326616-C-T	c.765G>A	p.K255=	Synonymous	5/14	-	1
2-204326620-T-G	c.761A>C	p.E254A	Missense	5/14	-	1
2-204326628-C-T	c.753G>A	p.L251=	Synonymous	5/14	-	1
2-204326630-A-G	c.751T>C	p.L251=	Synonymous	5/14	-	1
2-204326632-T-G	c.749A>C	p.K250T	Missense	5/14	-	1
2-204326635-G-A	c.746C>T	p.A249V	Missense	5/14	-	1
2-204326638-G-T	c.743C>A	p.A248E	Missense	5/14	-	1
2-204326639-C-T	c.742G>A	p.A248T	Missense	5/14	-	1
2-204326645-C-T	c.736G>A	p.E246K	Missense	5/14	-	1
2-204334952-G-A	c.733-8304C>T	-	IntronicSNV	-	4/13	1
2-204341840-G-A	c.732+12467C>T	-	IntronicSNV	-	4/13	1
2-204352101-GTT-G	c.732+2204_732+2205del	-	IntronicDeletion	-	4/13	1
2-204353875-GA-G	c.732+431del	-	IntronicDeletion	-	4/13	1
2-204354309-C-T	c.730G>A	p.E244K	Missense	4/14	-	4
2-204354312-T-G	c.727A>C	p.T243P	Missense	4/14	-	1
2-204354315-T-C	c.724A>G	p.I242V	Missense	4/14	-	1
2-204354324-C-T	c.715G>A	p.G239R	Missense	4/14	-	1
2-204354326-T-C	c.713A>G	p.Q238R	Missense	4/14	-	1
2-204354330-G-C	c.709C>G	p.H237D	Missense	4/14	-	1
2-204354331-T-A	c.708A>T	p.T236=	Synonymous	4/14	-	1
2-204354331-T-C	c.708A>G	p.T236=	Synonymous	4/14	-	1
2-204354331-T-G	c.708A>C	p.T236=	Synonymous	4/14	-	1
2-204354336-A-G	c.703T>C	p.L235=	Synonymous	4/14	-	1
2-204354339-C-T	c.700G>A	p.D234N	Missense	4/14	-	1
2-204354353-C-T	c.686G>A	p.R229H	Missense	4/14	-	1
2-204354372-C-T	c.667G>A	p.D223N	Missense	4/14	-	2
2-204354374-A-G	c.665T>C	p.L222S	Missense	4/14	-	1
2-204354377-G-A	c.662C>T	p.S221F	Missense	4/14	-	1
2-204354387-T-C	c.652A>G	p.S218G	Missense	4/14	-	1
2-204354388-G-A	c.651C>T	p.S217=	Synonymous	4/14	-	2
2-204354388-G-C	c.651C>G	p.S217=	Synonymous	4/14	-	2
2-204354388-G-T	c.651C>A	p.S217=	Synonymous	4/14	-	2
2-204354389-G-A	c.650C>T	p.S217F	Missense	4/14	-	1
2-204354393-C-A	c.646G>T	p.A216S	Missense	4/14	-	2
2-204354396-C-T	c.643G>A	p.A215T	Missense	4/14	-	3
2-204354397-G-A	c.642C>T	p.S214=	Synonymous	4/14	-	3
2-204354397-G-C	c.642C>G	p.S214=	Synonymous	4/14	-	1
2-204354405-T-A	c.634A>T	p.I212F	Missense	4/14	-	1
2-204354415-G-A	c.624C>T	p.S208=	Synonymous	4/14	-	2
2-204354415-G-C	c.624C>G	p.S208=	Synonymous	4/14	-	1
2-204354415-G-T	c.624C>A	p.S208=	Synonymous	4/14	-	1
2-204354419-G-A	c.620C>T	p.S207F	Missense	4/14	-	1
2-204354419-GA-TT	c.619_620delinsAA	p.S207N	Missense	4/14	-	1
2-204354419-G-C	c.620C>G	p.S207C	Missense	4/14	-	2
2-204354420-A-G	c.619T>C	p.S207P	Missense	4/14	-	2
2-204354422-T-A	c.617A>T	p.N206I	Missense	4/14	-	2
2-204354428-A-G	c.611T>C	p.I204T	Missense	4/14	-	1
2-204354429-T-C	c.610A>G	p.I204V	Missense	4/14	-	1
2-204354440-T-C	c.599A>G	p.E200G	Missense	4/14	-	2
2-204354449-C-A	c.590G>T	p.S197I	Missense	4/14	-	1
2-204354452-A-G	c.587T>C	p.V196A	Missense	4/14	-	2
2-204354454-T-A	c.585A>T	p.T195=	Synonymous	4/14	-	1
2-204354454-T-C	c.585A>G	p.T195=	Synonymous	4/14	-	1
2-204354454-T-G	c.585A>C	p.T195=	Synonymous	4/14	-	1
2-204354463-T-A	c.576A>T	p.S192=	Synonymous	4/14	-	2
2-204354463-T-C	c.576A>G	p.S192=	Synonymous	4/14	-	2
2-204354463-T-G	c.576A>C	p.S192=	Synonymous	4/14	-	2
2-204354464-G-A	c.575C>T	p.S192L	Missense	4/14	-	2
2-204354467-G-A	c.572C>T	p.A191V	Missense	4/14	-	1
2-204354469-G-A	c.570C>T	p.T190=	Synonymous	4/14	-	2
2-204354469-G-C	c.570C>G	p.T190=	Synonymous	4/14	-	2
2-204354469-G-T	c.570C>A	p.T190=	Synonymous	4/14	-	2
2-204354472-TCT-CCA	c.565_567delinsTGG	p.R189W	Missense	4/14	-	1
2-204354473-C-T	c.566G>A	p.R189K	Missense	4/14	-	1
2-204354476-C-T	c.563G>A	p.R188K	Missense	4/14	-	1
2-204354476-CT-TG	c.562_563delinsCA	p.R188Q	Missense	4/14	-	1
2-204354477-T-A	c.562A>T	p.R188*	Nonsense	4/14	-	1
2-204354481-C-A	c.558G>T	p.Q186H	Missense	4/14	-	1
2-204354481-C-G	c.558G>C	p.Q186H	Missense	4/14	-	1
2-204354486-T-C	c.553A>G	p.N185D	Missense	4/14	-	1
2-204354488-G-T	c.551C>A	p.T184N	Missense	4/14	-	1
2-204354489-TT-CG	c.549_550delinsCG	p.T184A	Missense	4/14	-	1
2-204354499-T-A	c.540A>T	p.K180N	Missense	4/14	-	2
2-204354499-T-G	c.540A>C	p.K180N	Missense	4/14	-	1
2-204354503-G-A	c.536C>T	p.T179I	Missense	4/14	-	1
2-204354504-T-C	c.535A>G	p.T179A	Missense	4/14	-	2
2-204354504-T-G	c.535A>C	p.T179P	Missense	4/14	-	1
2-204354516-C-A	c.523G>T	p.V175L	Missense	4/14	-	1
2-204354516-C-G	c.523G>C	p.V175L	Missense	4/14	-	1
2-204354519-A-G	c.520T>C	p.S174P	Missense	4/14	-	1
2-204354522-G-C	c.517C>G	p.Q173E	Missense	4/14	-	1
2-204354525-G-T	c.514C>A	p.Q172K	Missense	4/14	-	1
2-204354534-C-T	c.505G>A	p.E169K	Missense	4/14	-	3
2-204354542-C-T	c.497G>A	p.S166N	Missense	4/14	-	1
2-204354545-AA-GG	c.493_494delinsCC	p.L165P	Missense	4/14	-	1
2-204354573-C-T	c.466G>A	p.V156I	Missense	4/14	-	1
2-204354574-G-A	c.465C>T	p.D155=	Synonymous	4/14	-	3
2-204354576-C-T	c.463G>A	p.D155N	Missense	4/14	-	2
2-204354577-G-A	c.462C>T	p.D154=	Synonymous	4/14	-	1
2-204354579-C-A	c.460G>T	p.D154Y	Missense	4/14	-	1
2-204354579-C-G	c.460G>C	p.D154H	Missense	4/14	-	1
2-204354579-C-T	c.460G>A	p.D154N	Missense	4/14	-	1
2-204354584-GA-CC	c.454_455delinsGG	p.S152G	Missense	4/14	-	1
2-204354584-G-T	c.455C>A	p.S152Y	Missense	4/14	-	1
2-204354586-G-A	c.453C>T	p.Y151=	Synonymous	4/14	-	1
2-204354598-G-A	c.441C>T	p.S147=	Synonymous	4/14	-	2
2-204354602-G-C	c.437C>G	p.P146R	Missense	4/14	-	1
2-204354606-T-C	c.433A>G	p.K145E	Missense	4/14	-	1
2-204354606-T-TA	c.432dup	p.K145*	Nonsense	4/14	-	1
2-204354614-C-G	c.425G>C	p.R142T	Missense	4/14	-	1
2-204354615-T-C	c.424A>G	p.R142G	Missense	4/14	-	3
2-204354618-T-A	c.421A>T	p.N141Y	Missense	4/14	-	1
2-204354620-G-A	c.419C>T	p.S140F	Missense	4/14	-	4
2-204354629-G-C	c.410C>G	p.S137C	Missense	4/14	-	1
2-204354632-AA-TG	c.406_407delinsCA	p.L136Q	Missense	4/14	-	1
2-204354636-C-G	c.403G>C	p.G135R	Missense	4/14	-	1
2-204354636-C-T	c.403G>A	p.G135R	Missense	4/14	-	1
2-204354638-T-C	c.401A>G	p.K134R	Missense	4/14	-	1
2-204354640-C-A	c.399G>T	p.L133F	Missense	4/14	-	1
2-204354640-C-G	c.399G>C	p.L133F	Missense	4/14	-	1
2-204354641-AA-CT	c.397_398delinsAG	p.L133R	Missense	4/14	-	1
2-204354643-G-T	c.396C>A	p.T132=	Synonymous	4/14	-	1
2-204354645-T-C	c.394A>G	p.T132A	Missense	4/14	-	1
2-204354647-CC-TT	c.391_392delinsAA	p.G131N	Missense	4/14	-	1
2-204354647-C-T	c.392G>A	p.G131D	Missense	4/14	-	1
2-204354651-G-A	c.388C>T	p.H130Y	Missense	4/14	-	1
2-204354653-T-C	c.386A>G	p.K129R	Missense	4/14	-	1
2-204354655-C-A	c.384G>T	p.L128F	Missense	4/14	-	2
2-204354655-C-G	c.384G>C	p.L128F	Missense	4/14	-	1
2-204354660-T-C	c.379A>G	p.T127A	Missense	4/14	-	1
2-204354662-T-C	c.377A>G	p.H126R	Missense	4/14	-	2
2-204354664-TC-AT	c.374_375delinsAT	p.R125H	Missense	4/14	-	1
2-204354665-C-T	c.374G>A	p.R125Q	Missense	4/14	-	5
2-204354676-C-A	c.363G>T	p.L121F	Missense	4/14	-	1
2-204354676-C-G	c.363G>C	p.L121F	Missense	4/14	-	1
2-204354688-A-C	c.351T>G	p.A117=	Synonymous	4/14	-	1
2-204354688-A-G	c.351T>C	p.A117=	Synonymous	4/14	-	1
2-204354688-A-T	c.351T>A	p.A117=	Synonymous	4/14	-	1
2-204354694-C-A	c.345G>T	p.T115=	Synonymous	4/14	-	1
2-204354694-C-G	c.345G>C	p.T115=	Synonymous	4/14	-	1
2-204354694-C-T	c.345G>A	p.T115=	Synonymous	4/14	-	1
2-204354695-G-A	c.344C>T	p.T115M	Missense	4/14	-	1
2-204354696-T-A	c.343A>T	p.T115S	Missense	4/14	-	1
2-204354696-T-C	c.343A>G	p.T115A	Missense	4/14	-	1
2-204354700-TG-CA	c.338_339inv	p.T113M	Missense	4/14	-	1
2-204354702-T-C	c.337A>G	p.T113A	Missense	4/14	-	1
2-204354708-G-C	c.331C>G	p.Q111E	Missense	4/14	-	2
2-204354711-G-T	c.328C>A	p.R110S	Missense	4/14	-	1
2-204354715-A-C	c.324T>G	p.S108R	Missense	4/14	-	4
2-204354715-A-T	c.324T>A	p.S108R	Missense	4/14	-	3
2-204354717-T-G	c.322A>C	p.S108R	Missense	4/14	-	3
2-204354718-G-GT	c.320dup	p.N107Kfs*3	Frameshift	4/14	-	1
2-204354721-TCC-GCT	c.316_318delinsAGC	p.G106S	Missense	4/14	-	1
2-204354725-G-A	c.314C>T	p.S105L	Missense	4/14	-	1
2-204354733-G-C	c.306C>G	p.S102R	Missense	4/14	-	1
2-204354733-GCT-TCA	c.304_306delinsTGA	p.S102*	Nonsense	4/14	-	1
2-204354733-G-T	c.306C>A	p.S102R	Missense	4/14	-	1
2-204354735-T-G	c.304A>C	p.S102R	Missense	4/14	-	1
2-204354734-GCT-G	c.304_305del	p.S102Hfs*7	Frameshift	4/14	-	1
2-204354736-G-A	c.303C>T	p.S101=	Synonymous	4/14	-	2
2-204354740-A-G	c.299T>C	p.L100P	Missense	4/14	-	1
2-204354741-G-T	c.298C>A	p.L100I	Missense	4/14	-	1
2-204354742-C-T	c.297G>A	p.E99=	Synonymous	4/14	-	1
2-204354743-TC-T	c.295del	p.E99Sfs*30	Frameshift	4/14	-	1
2-204354745-C-A	c.294G>T	p.Q98H	Missense	4/14	-	1
2-204354745-C-G	c.294G>C	p.Q98H	Missense	4/14	-	1
2-204354747-G-T	c.292C>A	p.Q98K	Missense	4/14	-	1
2-204354748-C-T	c.291G>A	p.E97=	Synonymous	4/14	-	1
2-204354750-C-A	c.289G>T	p.E97*	Nonsense	4/14	-	1
2-204354750-C-T	c.289G>A	p.E97K	Missense	4/14	-	1
2-204354753-T-C	c.286A>G	p.I96V	Missense	4/14	-	1
2-204354756-A-G	c.283T>C	p.S95P	Missense	4/14	-	1
2-204354757-G-A	c.282C>T	p.C94=	Synonymous	4/14	-	1
2-204354758-C-T	c.281G>A	p.C94Y	Missense	4/14	-	1
2-204354759-A-C	c.280T>G	p.C94G	Missense	4/14	-	1
2-204354760-A-G	c.279T>C	p.L93=	Synonymous	4/14	-	1
2-204354763-A-C	c.276T>G	p.D92E	Missense	4/14	-	2
2-204354763-A-T	c.276T>A	p.D92E	Missense	4/14	-	1
2-204354763-A-ATT	c.275_276insAA	p.D92Efs*6	Frameshift	4/14	-	1
2-204354773-A-G	c.266T>C	p.L89S	Missense	4/14	-	1
2-204354777-C-A	c.262G>T	p.A88S	Missense	4/14	-	1
2-204354778-A-C	c.261T>G	p.D87E	Missense	4/14	-	1
2-204354778-A-T	c.261T>A	p.D87E	Missense	4/14	-	1
2-204354798-C-G	c.241G>C	p.G81R	Missense	4/14	-	2
2-204354798-C-T	c.241G>A	p.G81R	Missense	4/14	-	2
2-204354801-G-A	c.238C>T	p.Q80*	Nonsense	4/14	-	1
2-204354803-T-C	c.236A>G	p.N79S	Missense	4/14	-	1
2-204354805-C-A	c.234G>T	p.L78=	Synonymous	4/14	-	2
2-204354805-C-G	c.234G>C	p.L78=	Synonymous	4/14	-	2
2-204354805-C-T	c.234G>A	p.L78=	Synonymous	4/14	-	3
2-204354807-G-A	c.232C>T	p.L78=	Synonymous	4/14	-	2
2-204354823-C-T	c.227-11G>A	-	IntronicSNV	-	3/13	3
2-204355767-C-CA	c.226+169dup	-	IntronicInsertion	-	3/13	1
2-204355822-G-A	c.226+115C>T	-	IntronicSNV	-	3/13	3
2-204355941-C-A	c.222G>T	p.L74F	Missense	3/14	-	1
2-204355944-G-C	c.219C>G	p.N73K	Missense	3/14	-	1
2-204355944-G-T	c.219C>A	p.N73K	Missense	3/14	-	1
2-204355948-T-C	c.215A>G	p.Y72C	Missense	3/14	-	1
2-204355954-G-A	c.209C>T	p.S70F	Missense	3/14	-	2
2-204355954-G-T	c.209C>A	p.S70Y	Missense	3/14	-	1
2-204355961-G-A	c.202C>T	p.R68C	Missense	3/14	-	2
2-204355963-T-C	c.200A>G	p.Y67C	Missense	3/14	-	1
2-204355966-GA-TT	c.196_197delinsAA	p.S66N	Missense	3/14	-	1
2-204355973-T-A	c.190A>T	p.N64Y	Missense	3/14	-	1
2-204355979-T-C	c.184A>G	p.M62V	Missense	3/14	-	1
2-204355980-G-C	c.183C>G	p.N61K	Missense	3/14	-	1
2-204355980-G-T	c.183C>A	p.N61K	Missense	3/14	-	1
2-204355985-T-C	c.178A>G	p.T60A	Missense	3/14	-	1
2-204355986-T-G	c.177A>C	p.E59D	Missense	3/14	-	1
2-204355993-C-T	c.170G>A	p.R57H	Missense	3/14	-	1
2-204355994-G-A	c.169C>T	p.R57C	Missense	3/14	-	3
2-204355997-G-C	c.166C>G	p.L56V	Missense	3/14	-	1
2-204355998-A-G	c.165T>C	p.P55=	Synonymous	3/14	-	1
2-204356000-G-A	c.163C>T	p.P55S	Missense	3/14	-	1
2-204356001-A-C	c.162T>G	p.S54=	Synonymous	3/14	-	1
2-204356001-A-G	c.162T>C	p.S54=	Synonymous	3/14	-	1
2-204356001-A-T	c.162T>A	p.S54=	Synonymous	3/14	-	1
2-204356005-C-A	c.158G>T	p.R53I	Missense	3/14	-	3
2-204356005-CTT-C	c.156_157del	p.R53Ifs*23	Frameshift	3/14	-	1
2-204356013-T-A	c.150A>T	p.P50=	Synonymous	3/14	-	1
2-204356013-T-C	c.150A>G	p.P50=	Synonymous	3/14	-	1
2-204356013-T-G	c.150A>C	p.P50=	Synonymous	3/14	-	1
2-204356015-G-A	c.148C>T	p.P50S	Missense	3/14	-	2
2-204356020-A-T	c.143T>A	p.M48K	Missense	3/14	-	1
2-204356021-T-C	c.142A>G	p.M48V	Missense	3/14	-	1
2-204356023-G-T	c.140C>A	p.P47H	Missense	3/14	-	1
2-204356027-T-G	c.136A>C	p.K46Q	Missense	3/14	-	2
2-204356032-G-C	c.131C>G	p.S44C	Missense	3/14	-	1
2-204356039-A-T	c.124T>A	p.L42M	Missense	3/14	-	1
2-204359879-C-T	c.120+78G>A	-	IntronicSNV	-	2/13	1
2-204359955-A-C	c.120+2T>G	-	IntronicSNV	-	2/13	1
2-204359957-C-A	c.120G>T	p.Q40H	Missense	2/14	-	1
2-204359957-C-G	c.120G>C	p.Q40H	Missense	2/14	-	1
2-204359961-G-A	c.116C>T	p.T39I	Missense	2/14	-	1
2-204359963-G-C	c.114C>G	p.L38=	Synonymous	2/14	-	1
2-204359965-GT-G	c.111del	p.K37Nfs*15	Frameshift	2/14	-	1
2-204359968-T-C	c.109A>G	p.K37E	Missense	2/14	-	1
2-204359969-G-A	c.108C>T	p.D36=	Synonymous	2/14	-	1
2-204359972-T-C	c.105A>G	p.L35=	Synonymous	2/14	-	1
2-204359977-C-A	c.100G>T	p.E34*	Nonsense	2/14	-	1
2-204359985-C-A	c.92G>T	p.W31L	Missense	2/14	-	1
2-204359987-G-A	c.90C>T	p.A30=	Synonymous	2/14	-	1
2-204359987-G-C	c.90C>G	p.A30=	Synonymous	2/14	-	1
2-204359987-GGC-TTA	c.88_90delinsTAA	p.A30*	Nonsense	2/14	-	1
2-204359987-G-T	c.90C>A	p.A30=	Synonymous	2/14	-	1
2-204359988-G-A	c.89C>T	p.A30V	Missense	2/14	-	6
2-204359989-C-A	c.88G>T	p.A30S	Missense	2/14	-	1
2-204360004-C-T	c.73G>A	p.D25N	Missense	2/14	-	1
2-204360006-A-T	c.71T>A	p.L24Q	Missense	2/14	-	1
2-204360015-TC-AA	c.61_62delinsTT	p.D21F	Missense	2/14	-	1
2-204360016-C-T	c.61G>A	p.D21N	Missense	2/14	-	1
2-204360020-C-T	c.57G>A	p.K19=	Synonymous	2/14	-	1
2-204360022-T-C	c.55A>G	p.K19E	Missense	2/14	-	1
2-204360023-G-A	c.54C>T	p.D18=	Synonymous	2/14	-	1
2-204360024-T-C	c.53A>G	p.D18G	Missense	2/14	-	2
2-204360026-A-C	c.51T>G	p.S17R	Missense	2/14	-	3
2-204360026-A-T	c.51T>A	p.S17R	Missense	2/14	-	3
2-204360027-C-T	c.50G>A	p.S17N	Missense	2/14	-	2
2-204360028-T-A	c.49A>T	p.S17C	Missense	2/14	-	2
2-204360028-T-G	c.49A>C	p.S17R	Missense	2/14	-	4
2-204360029-G-A	c.48C>T	p.D16=	Synonymous	2/14	-	1
2-204360038-AGC-CCA	c.37_39delinsTGG	p.A13W	Missense	2/14	-	1
2-204360039-G-A	c.38C>T	p.A13V	Missense	2/14	-	1
2-204360040-C-G	c.37G>C	p.A13P	Missense	2/14	-	1
2-204360044-A-G	c.33T>C	p.H11=	Synonymous	2/14	-	1
2-204360048-T-G	c.29A>C	p.D10A	Missense	2/14	-	1
2-204360053-T-A	c.24A>T	p.E8D	Missense	2/14	-	1
2-204360053-T-G	c.24A>C	p.E8D	Missense	2/14	-	2
2-204360055-C-A	c.22G>T	p.E8*	Nonsense	2/14	-	1
2-204360060-T-A	c.17A>T	p.D6V	Missense	2/14	-	2
2-204360060-T-C	c.17A>G	p.D6G	Missense	2/14	-	1
2-204360063-G-C	c.14C>G	p.S5*	Nonsense	2/14	-	1
2-204360063-G-T	c.14C>A	p.S5*	Nonsense	2/14	-	1
2-204360068-C-A	c.9G>T	p.Q3H	Missense	2/14	-	1
2-204360201-A-G	c.1-125T>C	-	IntronicSNV	-	1/13	3
2-204371623-T-A	c.1-11547A>T	-	IntronicSNV	-	1/13	1
2-204372337-A-C	c.1-12261T>G	-	IntronicSNV	-	1/13	1
2-204372971-A-G	c.1-12895T>C	-	IntronicSNV	-	1/13	1
2-204384112-T-A	c.-1+15722A>T	-	intron_variant	-	1/13	1
2-204387482-G-A	c.-1+12352C>T	-	intron_variant	-	1/13	4
2-204387482-G-C	c.-1+12352C>G	-	intron_variant	-	1/13	4
2-204390214-A-G	c.-1+9620T>C	-	intron_variant	-	1/13	1
2-204399836-C-T	c.-3G>A	-	splice_region_variant,5_prime_UTR_variant	1/14	-	1