List of variants in gene ACD studied for central nervous system malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 500

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HGVS	dbSNP	gnomAD frequency
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)	rs6979	0.60624
NM_001082486.2(ACD):c.1298+20C>A	rs67114979	0.13128
NM_001082486.2(ACD):c.413+3A>G	rs8058187	0.12302
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)	rs14920	0.03535
NC_000016.10:g.67660703A>G	rs72547496	0.03001
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)	rs147189192	0.00679
NM_001082486.1(ACD):c.162C>T (p.Pro54=)	rs73597595	0.00544
NM_001082486.2(ACD):c.1207-10C>T	rs67185288	0.00536
NM_001082486.2(ACD):c.801C>T (p.Ala267=)	rs72549181	0.00530
NM_001082486.2(ACD):c.494-20C>T	rs59443695	0.00465
NM_001082486.2(ACD):c.819C>T (p.Pro273=)	rs138740815	0.00251
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)	rs1050346	0.00188
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)	rs142507451	0.00135
NM_001082486.2(ACD):c.132C>T (p.Gly44=)	rs138527794	0.00102
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)	rs139438549	0.00098
NM_001082486.2(ACD):c.444C>T (p.Leu148=)	rs151132164	0.00096
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)	rs149365469	0.00053
NM_001082486.2(ACD):c.46C>A (p.Leu16Met)	rs200365807	0.00044
NM_001082486.2(ACD):c.645+17G>A	rs148412951	0.00044
NM_001082486.2(ACD):c.99+18G>A	rs369046068	0.00036
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)	rs142662151	0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)	rs202104741	0.00031
NM_001082486.2(ACD):c.1152G>A (p.Pro384=)	rs147116458	0.00019
NM_001082486.2(ACD):c.837G>A (p.Pro279=)	rs201965477	0.00016
NM_001082486.2(ACD):c.846C>T (p.Pro282=)	rs199856965	0.00015
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)	rs150078051	0.00014
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)	rs149051014	0.00013
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)	rs200293827	0.00010
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)	rs370512338	0.00009
NM_001082486.2(ACD):c.-24C>T	rs770445581	0.00008
NM_001082486.2(ACD):c.493+7T>C	rs199626332	0.00008
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)	rs775607009	0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)	rs374925782	0.00008
NM_001082486.2(ACD):c.100-7C>G	rs774058030	0.00005
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)	rs553014261	0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)	rs531580930	0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)	rs374742891	0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)	rs372747629	0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)	rs200909340	0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro)	rs755371076	0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)	rs200934242	0.00005
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr)	rs373593390	0.00004
NM_001082486.1(ACD):c.9C>G (p.Gly3=)	rs201685459	0.00004
NM_001082486.2(ACD):c.1207-8C>T	rs201192255	0.00004
NM_001082486.2(ACD):c.242+7G>A	rs368510441	0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys)	rs781239912	0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=)	rs755523137	0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His)	rs776468683	0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=)	rs751515020	0.00004
NM_001082486.2(ACD):c.876C>T (p.Thr292=)	rs372485172	0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His)	rs147306863	0.00004
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)	rs753367228	0.00003
NM_001082486.1(ACD):c.27C>T (p.Ala9=)	rs780167082	0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=)	rs769298187	0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)	rs200526158	0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)	rs781117606	0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=)	rs751284994	0.00003
NM_001082486.2(ACD):c.242+13dup	rs774149870	0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=)	rs146942923	0.00003
NM_001082486.2(ACD):c.337-14C>T	rs765992071	0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)	rs777707916	0.00003
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser)	rs758700674	0.00003
NM_001082486.2(ACD):c.829+11G>A	rs778449742	0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=)	rs1459307216	0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)	rs1300291520	0.00003
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)	rs774558672	0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His)	rs201907421	0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)	rs201441120	0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)	rs773274371	0.00002
NM_001082486.2(ACD):c.1314C>T (p.Leu438=)	rs528476326	0.00002
NM_001082486.2(ACD):c.1320C>T (p.Ala440=)	rs765091780	0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)	rs150387011	0.00002
NM_001082486.2(ACD):c.159C>T (p.Asp53=)	rs761226246	0.00002
NM_001082486.2(ACD):c.413+9T>C	rs774274068	0.00002
NM_001082486.2(ACD):c.459-18G>A	rs1449515028	0.00002
NM_001082486.2(ACD):c.545dup (p.Ala184fs)	rs1567641214	0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)	rs1181866888	0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)	rs777476880	0.00002
NM_001082486.2(ACD):c.609T>C (p.Pro203=)	rs752926001	0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=)	rs375866577	0.00002
NM_001082486.2(ACD):c.743-14C>T	rs781614614	0.00002
NM_001082486.2(ACD):c.743-17C>T	rs746257998	0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val)	rs780951085	0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)	rs1006777863	0.00002
NM_001082486.2(ACD):c.99+20C>T	rs751731124	0.00002
NC_000016.10:g.67660316G>T	rs774922687	0.00001
NM_001082486.1(ACD):c.174G>A (p.Lys58=)	rs780457506	0.00001
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu)	rs765105630	0.00001
NM_001082486.2(ACD):c.-1G>C	rs1432567553	0.00001
NM_001082486.2(ACD):c.-20C>T	rs148124985	0.00001
NM_001082486.2(ACD):c.-37C>T	rs1377497479	0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=)	rs372195324	0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)	rs368783801	0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)	rs745338439	0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=)	rs776364958	0.00001
NM_001082486.2(ACD):c.1046del (p.Ser349fs)	rs1291433639	0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)	rs370293582	0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)	rs757414908	0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser)	rs996525402	0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)	rs772867895	0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)	rs747913250	0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=)	rs756189227	0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=)	rs1371779126	0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=)	rs370757729	0.00001
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter)	rs761750721	0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)	rs779041176	0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)	rs758513965	0.00001
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg)	rs149418249	0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)	rs775323156	0.00001
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)	rs1397584716	0.00001
NM_001082486.2(ACD):c.1299-16G>A	rs746378955	0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=)	rs1032620777	0.00001
NM_001082486.2(ACD):c.170C>T (p.Thr57Met)	rs1383980242	0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe)	rs368387402	0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=)	rs998982026	0.00001
NM_001082486.2(ACD):c.242+8G>A	rs1402954442	0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=)	rs752019137	0.00001
NM_001082486.2(ACD):c.337-10A>C	rs566079044	0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)	rs775602659	0.00001
NM_001082486.2(ACD):c.414-5C>A	rs372700670	0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=)	rs777238079	0.00001
NM_001082486.2(ACD):c.494-10_494-9del	rs1190418028	0.00001
NM_001082486.2(ACD):c.494-11C>T	rs368882788	0.00001
NM_001082486.2(ACD):c.494-3C>G	rs1173572864	0.00001
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)	rs1435126124	0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile)	rs144087853	0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)	rs780160617	0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu)	rs1445067662	0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter)	rs1339068886	0.00001
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln)	rs146270351	0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)	rs72547495	0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=)	rs571116752	0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=)	rs374438854	0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)	rs1039048796	0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)	rs748280747	0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)	rs752793753	0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=)	rs780267725	0.00001
NM_001082486.2(ACD):c.696T>C (p.Asn232=)	rs544679646	0.00001
NM_001082486.2(ACD):c.711G>T (p.Leu237=)	rs1212715141	0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)	rs139256582	0.00001
NM_001082486.2(ACD):c.742+4A>G	rs1380521995	0.00001
NM_001082486.2(ACD):c.743-4C>A	rs1455941784	0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)	rs754631809	0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)	rs760404492	0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)	rs1035052101	0.00001
NM_001082486.2(ACD):c.829+10T>C	rs1332514211	0.00001
NM_001082486.2(ACD):c.830-12C>T	rs748678952	0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)	rs1370466465	0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly)	rs779705657	0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)	rs754815475	0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)	rs200298308	0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)	rs760978454	0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn)	rs748834837	0.00001
NM_001082486.2(ACD):c.99+3G>A	rs1189416936	0.00001
NC_000016.10:g.67660263_67660288del
NC_000016.10:g.67660263_67660288dup	rs1339425052
NC_000016.10:g.67660277C>G	rs776666988
NC_000016.10:g.67660284T>C	rs2142976427
NC_000016.10:g.67660292_67660309del	rs1185708088
NC_000016.10:g.67660300del	rs2142976499
NC_000016.10:g.67660324AGG[2]	rs1198905942
NC_000016.10:g.67660478T>C	rs1308323945
NC_000016.9:g.(?_67692438)_(67694381_?)del
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
NM_001082486.1(ACD):c.157C>A (p.Arg53=)	rs773291286
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp)	rs773291286
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
NM_001082486.1(ACD):c.183T>C (p.Pro61=)	rs2052981802
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser)	rs2142976460
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr)	rs763682845
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
NM_001082486.1(ACD):c.37G>A (p.Val13Ile)	rs781424953
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
NM_001082486.2(ACD):c.-14G>T
NM_001082486.2(ACD):c.-16G>C
NM_001082486.2(ACD):c.-19G>T
NM_001082486.2(ACD):c.-23A>T	rs746445437
NM_001082486.2(ACD):c.-26T>G
NM_001082486.2(ACD):c.-29C>A
NM_001082486.2(ACD):c.-29C>G	rs534010648
NM_001082486.2(ACD):c.-29C>T
NM_001082486.2(ACD):c.-30C>T
NM_001082486.2(ACD):c.-31C>A	rs775903443
NM_001082486.2(ACD):c.-31C>T
NM_001082486.2(ACD):c.-34G>C
NM_001082486.2(ACD):c.-36C>A	rs762184098
NM_001082486.2(ACD):c.-36C>G	rs762184098
NM_001082486.2(ACD):c.-36C>T
NM_001082486.2(ACD):c.-38A>T
NM_001082486.2(ACD):c.-8C>G	rs766360608
NM_001082486.2(ACD):c.-8C>T	rs766360608
NM_001082486.2(ACD):c.-9G>A
NM_001082486.2(ACD):c.-9G>C	rs377247506
NM_001082486.2(ACD):c.-9G>T	rs377247506
NM_001082486.2(ACD):c.100-12C>T
NM_001082486.2(ACD):c.100-15G>A
NM_001082486.2(ACD):c.100-15G>C
NM_001082486.2(ACD):c.100-15G>T	rs747553547
NM_001082486.2(ACD):c.100-16C>T
NM_001082486.2(ACD):c.100-19C>T
NM_001082486.2(ACD):c.100-1G>A
NM_001082486.2(ACD):c.100-6C>T	rs1597774112
NM_001082486.2(ACD):c.100-9C>T
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys)	rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
NM_001082486.2(ACD):c.100G>A (p.Val34Ile)	rs2052973227
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter)	rs1316577809
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)	rs1567640107
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)	rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
NM_001082486.2(ACD):c.1074C>T (p.His358=)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser)	rs143990276
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val)	rs2142967624
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
NM_001082486.2(ACD):c.114C>T (p.Ala38=)	rs756189227
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter)	rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
NM_001082486.2(ACD):c.1206+10G>C
NM_001082486.2(ACD):c.1206+10del	rs2052907559
NM_001082486.2(ACD):c.1206+18G>A
NM_001082486.2(ACD):c.1206+4A>G	rs2142967211
NM_001082486.2(ACD):c.1206+8T>C
NM_001082486.2(ACD):c.1207-18A>G
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)	rs201907421
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
NM_001082486.2(ACD):c.1224T>C (p.His408=)
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val)	rs2052901178
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)	rs1476903915
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)	rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu)	rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
NM_001082486.2(ACD):c.1293T>C (p.Ala431=)	rs1597767407
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)	rs1407657316
NM_001082486.2(ACD):c.1298+17G>A
NM_001082486.2(ACD):c.1298+1G>C	rs2052898891
NM_001082486.2(ACD):c.1298+9C>T	rs776494951
NM_001082486.2(ACD):c.1299-14T>C	rs1413270785
NM_001082486.2(ACD):c.1299-19A>G
NM_001082486.2(ACD):c.1299-4C>T	rs1597767023
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)	rs201926842
NM_001082486.2(ACD):c.1332C>T (p.His444=)
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)	rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)	rs2142965523
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
NM_001082486.2(ACD):c.139C>G (p.His47Asp)	rs1057522813
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
NM_001082486.2(ACD):c.152del (p.Thr51fs)
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
NM_001082486.2(ACD):c.174G>A (p.Leu58=)	rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
NM_001082486.2(ACD):c.18G>A (p.Arg6=)	rs779383442
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)	rs779383442
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
NM_001082486.2(ACD):c.201C>T (p.Val67=)	rs1428575354
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)	rs748312961
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
NM_001082486.2(ACD):c.242+5G>A
NM_001082486.2(ACD):c.243-13C>T
NM_001082486.2(ACD):c.243-14C>G	rs531965174
NM_001082486.2(ACD):c.243-14C>T
NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)	rs1277350671
NM_001082486.2(ACD):c.250_252del (p.Lys84del)	rs797045144
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
NM_001082486.2(ACD):c.283C>T (p.Leu95=)	rs2142974673
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
NM_001082486.2(ACD):c.303C>T (p.Cys101=)	rs2142974629
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter)	rs2142974596
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
NM_001082486.2(ACD):c.330C>A (p.Gly110=)	rs1214995325
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp)	rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
NM_001082486.2(ACD):c.336+12G>A
NM_001082486.2(ACD):c.336+8G>A
NM_001082486.2(ACD):c.336+8G>T
NM_001082486.2(ACD):c.337-12G>A	rs1021416366
NM_001082486.2(ACD):c.337-16C>G
NM_001082486.2(ACD):c.337-17C>T	rs1186068061
NM_001082486.2(ACD):c.337-20T>G	rs1567641944
NM_001082486.2(ACD):c.337-5_337-3del
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser)	rs377701284
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)	rs141113896
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
NM_001082486.2(ACD):c.357G>C (p.Gln119His)	rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
NM_001082486.2(ACD):c.361del (p.Asp121fs)	rs1303559181
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter)	rs1244950221
NM_001082486.2(ACD):c.394C>A (p.Arg132=)	rs2052957232
NM_001082486.2(ACD):c.405G>A (p.Val135=)
NM_001082486.2(ACD):c.413+11C>T
NM_001082486.2(ACD):c.413+1G>C
NM_001082486.2(ACD):c.413+7G>A	rs1017802690
NM_001082486.2(ACD):c.413+9T>A
NM_001082486.2(ACD):c.414-16C>A	rs1363142172
NM_001082486.2(ACD):c.414-17C>G	rs1291861643
NM_001082486.2(ACD):c.414-7T>C
NM_001082486.2(ACD):c.414-9T>G
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter)	rs2142973399
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln)	rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
NM_001082486.2(ACD):c.458+20C>T
NM_001082486.2(ACD):c.459-12C>G
NM_001082486.2(ACD):c.459-14C>T	rs2142972775
NM_001082486.2(ACD):c.459-16C>T	rs1422483519
NM_001082486.2(ACD):c.459-4G>A
NM_001082486.2(ACD):c.459-4G>T
NM_001082486.2(ACD):c.459-5T>C	rs367821436
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs)	rs2142972519
NM_001082486.2(ACD):c.493+10A>C
NM_001082486.2(ACD):c.493+16A>G
NM_001082486.2(ACD):c.493+19A>G
NM_001082486.2(ACD):c.493+6G>A	rs2052945054
NM_001082486.2(ACD):c.494-11C>G
NM_001082486.2(ACD):c.494-19C>T	rs749224903
NM_001082486.2(ACD):c.494-5C>G
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro)	rs2142971578
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)	rs145007645
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)	rs145007645
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
NM_001082486.2(ACD):c.536del (p.Gln179fs)	rs2142971508
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg)	rs2142971458
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
NM_001082486.2(ACD):c.558G>A (p.Val186=)
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
NM_001082486.2(ACD):c.583C>T (p.Leu195=)	rs2142971297
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
NM_001082486.2(ACD):c.612C>T (p.Val204=)
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
NM_001082486.2(ACD):c.641C>T (p.Ala214Val)	rs1306270247
NM_001082486.2(ACD):c.645+10G>C
NM_001082486.2(ACD):c.645+16T>C
NM_001082486.2(ACD):c.645+16T>G
NM_001082486.2(ACD):c.645+2T>C
NM_001082486.2(ACD):c.645+7C>G
NM_001082486.2(ACD):c.646-11A>G
NM_001082486.2(ACD):c.646-20A>G
NM_001082486.2(ACD):c.646-6C>T
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup)	rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
NM_001082486.2(ACD):c.666C>A (p.Val222=)
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
NM_001082486.2(ACD):c.702G>C (p.Gln234His)	rs1202466632
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)	rs757807430
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
NM_001082486.2(ACD):c.723C>T (p.Gly241=)	rs757919779
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)	rs1048865744
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr)	rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)	rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)	rs1597770431
NM_001082486.2(ACD):c.743-3dup	rs1369632476
NM_001082486.2(ACD):c.743-6C>T
NM_001082486.2(ACD):c.743-7C>A	rs541174802
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly)	rs778481591
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
NM_001082486.2(ACD):c.781C>T (p.Leu261=)	rs760404492
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
NM_001082486.2(ACD):c.813C>T (p.Ser271=)	rs878924464
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)	rs777131279
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)	rs2052924182
NM_001082486.2(ACD):c.825C>T (p.Ser275=)	rs747335465
NM_001082486.2(ACD):c.830-11C>T
NM_001082486.2(ACD):c.830-12C>A
NM_001082486.2(ACD):c.830-13C>A
NM_001082486.2(ACD):c.830-14C>T	rs2142968964
NM_001082486.2(ACD):c.830-1G>A	rs1597769397
NM_001082486.2(ACD):c.830-2A>T	rs2142968890
NM_001082486.2(ACD):c.830-5C>T
NM_001082486.2(ACD):c.830-9C>T
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
NM_001082486.2(ACD):c.861C>G (p.Ser287=)	rs751515020
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn)	rs2052917223
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=)	rs1459307216
NM_001082486.2(ACD):c.894T>A (p.Pro298=)	rs773774371
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
NM_001082486.2(ACD):c.90G>C (p.Gln30His)	rs1242526760
NM_001082486.2(ACD):c.911C>T (p.Ala304Val)	rs2142968526
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
NM_001082486.2(ACD):c.939C>G (p.Ser313=)	rs1368630251
NM_001082486.2(ACD):c.950_951del (p.Pro317fs)	rs2142968355
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)	rs2052915383
NM_001082486.2(ACD):c.965C>T (p.Ala322Val)	rs2142968307
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)	rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)	rs777812658
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
NM_001082486.2(ACD):c.99+19C>T
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp)	rs973439601
NM_001082486.2(ACD):c.9T>G (p.Gly3=)	rs2142976114
NM_022914.2(ACD):c.11G>A (p.Arg4His)
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr)	rs1555542868
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
NM_022914.2(ACD):c.209C>T (p.Ala70Val)	rs758189246
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.