List of variants in gene SI studied for Sucrase-isomaltase deficiency

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: 516

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HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.4569G>A (p.Met1523Ile)	rs4855271	0.92065
NM_001041.4(SI):c.3888+19C>T	rs2290738	0.72261
NM_001041.4(SI):c.1437C>T (p.Asn479=)	rs9290257	0.58303
NM_001041.4(SI):c.1512+25G>A	rs9290256	0.58303
NM_001041.4(SI):c.1797G>T (p.Ala599=)	rs9838509	0.58296
NM_001041.4(SI):c.1278+42_1278+43insAT	rs60170840	0.58215
NM_001041.4(SI):c.1146+13A>C	rs9290259	0.58134
NM_001041.4(SI):c.691A>G (p.Thr231Ala)	rs9283633	0.56659
NM_001041.4(SI):c.43G>T (p.Val15Phe)	rs9290264	0.26247
NM_001041.4(SI):c.*68T>C	rs73018867	0.24638
NM_001041.4(SI):c.4026A>G (p.Thr1342=)	rs74648160	0.10127
NM_001041.4(SI):c.4842-4C>T	rs78032315	0.05892
NM_001041.4(SI):c.4779T>C (p.Phe1593=)	rs78428100	0.05250
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser)	rs9917722	0.05238
NM_001041.4(SI):c.5197+8C>T	rs6799858	0.05235
NM_001041.4(SI):c.*426G>A	rs111300332	0.04763
NM_001041.4(SI):c.4841+9A>G	rs114438312	0.01917
NM_001041.4(SI):c.4044G>A (p.Thr1348=)	rs75253993	0.01823
NM_001041.4(SI):c.483+4C>T	rs13086543	0.01717
NM_001041.4(SI):c.517C>G (p.Pro173Ala)	rs146960446	0.01286
NM_001041.4(SI):c.598A>G (p.Ser200Gly)	rs113903766	0.01139
NM_001041.4(SI):c.692C>G (p.Thr231Ser)	rs79468450	0.00993
NM_001041.4(SI):c.*198G>T	rs146143233	0.00908
NM_001041.4(SI):c.123T>C (p.Ile41=)	rs146222650	0.00543
NM_001041.4(SI):c.2887A>C (p.Arg963=)	rs113456182	0.00518
NM_001041.4(SI):c.1398+12T>C	rs115295826	0.00514
NM_001041.4(SI):c.2923T>C (p.Tyr975His)	rs146785675	0.00477
NM_001041.4(SI):c.1716-13G>A	rs112259253	0.00456
NM_001041.4(SI):c.1212G>A (p.Ala404=)	rs142838612	0.00361
NM_001041.4(SI):c.2678C>T (p.Ala893Val)	rs145893756	0.00247
NM_001041.4(SI):c.4275A>G (p.Thr1425=)	rs150151075	0.00228
NM_001041.4(SI):c.2395A>G (p.Ile799Val)	rs150246328	0.00198
NM_001041.4(SI):c.3234G>A (p.Arg1078=)	rs56082035	0.00167
NM_001041.4(SI):c.1111G>A (p.Val371Met)	rs138434001	0.00165
NM_001041.4(SI):c.1218C>T (p.Asn406=)	rs151296973	0.00152
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001041.4(SI):c.4951G>A (p.Val1651Ile)	rs139876383	0.00146
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)	rs77546399	0.00138
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00128
NM_001041.4(SI):c.3972A>G (p.Pro1324=)	rs142838806	0.00116
NM_001041.4(SI):c.5301G>A (p.Thr1767=)	rs150131334	0.00110
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)	rs147207752	0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)	rs149783130	0.00081
NM_001041.4(SI):c.*121C>T	rs530056606	0.00079
NM_001041.4(SI):c.825C>T (p.Tyr275=)	rs139867598	0.00079
NM_001041.4(SI):c.876C>T (p.Phe292=)	rs139642816	0.00070
NM_001041.4(SI):c.5403C>T (p.Asp1801=)	rs146830505	0.00066
NM_001041.4(SI):c.4541-18T>G	rs111418304	0.00064
NM_001041.4(SI):c.3466C>T (p.Leu1156=)	rs144285578	0.00056
NM_001041.4(SI):c.484-8C>G	rs201820421	0.00056
NM_001041.4(SI):c.4268-14T>C	rs201151548	0.00054
NM_001041.4(SI):c.2892G>A (p.Thr964=)	rs145486890	0.00051
NM_001041.4(SI):c.3634-14A>T	rs199634091	0.00046
NM_001041.4(SI):c.2721T>C (p.Tyr907=)	rs140829463	0.00043
NM_001041.4(SI):c.1278+8T>G	rs368886500	0.00040
NM_001041.4(SI):c.885T>C (p.Phe295=)	rs141754766	0.00040
NM_001041.4(SI):c.4451G>A (p.Arg1484His)	rs145246112	0.00039
NM_001041.4(SI):c.2789A>G (p.Gln930Arg)	rs150927256	0.00038
NM_001041.4(SI):c.2737G>T (p.Val913Phe)	rs200328496	0.00035
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)	rs143388292	0.00033
NM_001041.4(SI):c.4268-12G>C	rs200234624	0.00032
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)	rs142789249	0.00028
NM_001041.4(SI):c.322T>G (p.Phe108Val)	rs146006371	0.00026
NM_001041.4(SI):c.5367T>C (p.Tyr1789=)	rs144206255	0.00026
NM_001041.4(SI):c.1587G>A (p.Pro529=)	rs531422962	0.00025
NM_001041.4(SI):c.2301+20T>G	rs576773147	0.00024
NM_001041.4(SI):c.5384C>T (p.Ser1795Leu)	rs139504152	0.00023
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)	rs375113759	0.00020
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)	rs556583179	0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val)	rs144972103	0.00019
NM_001041.4(SI):c.3732C>T (p.Asp1244=)	rs200449490	0.00019
NM_001041.4(SI):c.4239C>T (p.Asp1413=)	rs138374817	0.00019
NM_001041.4(SI):c.556T>C (p.Ser186Pro)	rs142447888	0.00019
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)	rs371426683	0.00018
NM_001041.4(SI):c.2343T>C (p.Tyr781=)	rs539868642	0.00017
NM_001041.4(SI):c.5108+16A>G	rs149803140	0.00017
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)	rs375443860	0.00016
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)	rs187532711	0.00016
NM_001041.4(SI):c.2150T>A (p.Val717Asp)	rs188320908	0.00014
NM_001041.4(SI):c.3424-12T>C	rs77749967	0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)	rs142090504	0.00014
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)	rs370336977	0.00014
NM_001041.4(SI):c.639T>C (p.Phe213=)	rs368517998	0.00014
NM_001041.4(SI):c.325G>A (p.Val109Ile)	rs149498200	0.00013
NM_001041.4(SI):c.4540+4A>G	rs201654919	0.00013
NM_001041.4(SI):c.5108+13T>C	rs535082142	0.00013
NM_001041.4(SI):c.5109-15A>C	rs371915462	0.00013
NM_001041.4(SI):c.2159+12G>A	rs376831754	0.00012
NM_001041.4(SI):c.2599T>C (p.Tyr867His)	rs140230726	0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His)	rs202225928	0.00012
NM_001041.4(SI):c.749G>A (p.Arg250His)	rs530009542	0.00012
NM_001041.4(SI):c.118+10A>G	rs200646132	0.00011
NM_001041.4(SI):c.4133T>G (p.Ile1378Ser)	rs148831941	0.00011
NM_001041.4(SI):c.4458G>A (p.Thr1486=)	rs140287192	0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu)	rs201612742	0.00011
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)	rs141450837	0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	rs200451408	0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)	rs138927818	0.00010
NM_001041.4(SI):c.4062+18T>C	rs367787760	0.00010
NM_001041.4(SI):c.*217A>C	rs577252976	0.00009
NM_001041.4(SI):c.1686T>C (p.Tyr562=)	rs763063946	0.00009
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)	rs149898910	0.00009
NM_001041.4(SI):c.*229T>C	rs886058140	0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)	rs145913658	0.00008
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)	rs202077921	0.00008
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)	rs574552408	0.00008
NM_001041.4(SI):c.5252C>T (p.Thr1751Ile)	rs377361477	0.00008
NM_001041.4(SI):c.801T>C (p.Pro267=)	rs752564085	0.00008
NM_001041.4(SI):c.808-14T>A	rs762854920	0.00008
NM_001041.4(SI):c.8G>T (p.Arg3Ile)	rs766454276	0.00008
NM_001041.4(SI):c.1147-6T>A	rs146539849	0.00007
NM_001041.4(SI):c.1438C>A (p.Pro480Thr)	rs752986538	0.00007
NM_001041.4(SI):c.3424-10C>T	rs367683519	0.00007
NM_001041.4(SI):c.355A>T (p.Met119Leu)	rs746151218	0.00007
NM_001041.4(SI):c.4000-18A>G	rs764830211	0.00007
NM_001041.4(SI):c.4008A>G (p.Pro1336=)	rs747858019	0.00007
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)	rs758043919	0.00007
NM_001041.4(SI):c.4500C>T (p.Asp1500=)	rs553547580	0.00007
NM_001041.4(SI):c.5049A>G (p.Leu1683=)	rs199658617	0.00007
NM_001041.4(SI):c.5198-7T>C	rs200924086	0.00007
NM_001041.4(SI):c.627T>C (p.Gly209=)	rs370540330	0.00007
NM_001041.4(SI):c.1219G>A (p.Gly407Arg)	rs559599846	0.00006
NM_001041.4(SI):c.3099G>A (p.Lys1033=)	rs201844171	0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)	rs149414344	0.00006
NM_001041.4(SI):c.636-14C>T	rs746808951	0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys)	rs200745562	0.00006
NM_001041.4(SI):c.826G>A (p.Gly276Ser)	rs371801531	0.00006
NM_001041.4(SI):c.1420T>C (p.Tyr474His)	rs771986263	0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)	rs371618948	0.00005
NM_001041.4(SI):c.2369A>G (p.His790Arg)	rs149382090	0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)	rs138778317	0.00005
NM_001041.4(SI):c.3827A>G (p.Gln1276Arg)	rs775422246	0.00005
NM_001041.4(SI):c.4000-15T>A	rs201336234	0.00005
NM_001041.4(SI):c.4000G>A (p.Val1334Ile)	rs961160800	0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)	rs199881454	0.00005
NM_001041.4(SI):c.1887+8A>C	rs372410648	0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met)	rs369115304	0.00004
NM_001041.4(SI):c.3521A>T (p.Asp1174Val)	rs750344760	0.00004
NM_001041.4(SI):c.373+1G>A	rs772671498	0.00004
NM_001041.4(SI):c.3760-7A>G	rs367956129	0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)	rs767701775	0.00004
NM_001041.4(SI):c.4692+12C>T	rs199581970	0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)	rs369134336	0.00004
NM_001041.4(SI):c.780T>G (p.Ile260Met)	rs758621325	0.00004
NM_001041.4(SI):c.807+4A>G	rs541491902	0.00004
NM_001041.4(SI):c.807+8A>G	rs759240554	0.00004
NM_001041.4(SI):c.1-15C>A	rs201424057	0.00003
NM_001041.4(SI):c.1301G>A (p.Arg434Gln)	rs777219527	0.00003
NM_001041.4(SI):c.1391T>C (p.Ile464Thr)	rs781165527	0.00003
NM_001041.4(SI):c.1715+8C>A	rs373673328	0.00003
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)	rs201583834	0.00003
NM_001041.4(SI):c.1837G>T (p.Glu613Ter)	rs201055347	0.00003
NM_001041.4(SI):c.186A>G (p.Lys62=)	rs368169891	0.00003
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)	rs375458342	0.00003
NM_001041.4(SI):c.1969C>T (p.Pro657Ser)	rs140611221	0.00003
NM_001041.4(SI):c.2159+11C>T	rs761959886	0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)	rs200972419	0.00003
NM_001041.4(SI):c.2566-11A>G	rs747570138	0.00003
NM_001041.4(SI):c.2966G>A (p.Arg989His)	rs757155810	0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)	rs768100667	0.00003
NM_001041.4(SI):c.3254+14T>G	rs938714371	0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=)	rs960922254	0.00003
NM_001041.4(SI):c.3905G>C (p.Gly1302Ala)	rs780497188	0.00003
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)	rs376972966	0.00003
NM_001041.4(SI):c.3977C>T (p.Thr1326Ile)	rs1334719838	0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)	rs779805310	0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu)	rs758407768	0.00003
NM_001041.4(SI):c.453A>G (p.Gln151=)	rs374104171	0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)	rs200328403	0.00003
NM_001041.4(SI):c.4958A>G (p.Asn1653Ser)	rs370421935	0.00003
NM_001041.4(SI):c.695G>A (p.Arg232His)	rs747345955	0.00003
NM_001041.4(SI):c.877G>A (p.Gly293Ser)	rs756366998	0.00003
NM_001041.4(SI):c.1106A>G (p.Lys369Arg)	rs756534501	0.00002
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)	rs370325800	0.00002
NM_001041.4(SI):c.1311T>C (p.Asn437=)	rs886058149	0.00002
NM_001041.4(SI):c.1616T>C (p.Met539Thr)	rs749835475	0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro)	rs755487744	0.00002
NM_001041.4(SI):c.1995C>T (p.Asp665=)	rs757380218	0.00002
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)	rs376341511	0.00002
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)	rs121912611	0.00002
NM_001041.4(SI):c.3423+10A>G	rs200899300	0.00002
NM_001041.4(SI):c.3888+12G>A	rs766861562	0.00002
NM_001041.4(SI):c.4062+11C>T	rs747768310	0.00002
NM_001041.4(SI):c.4505A>G (p.Tyr1502Cys)	rs1382587818	0.00002
NM_001041.4(SI):c.4575+2T>C	rs754961413	0.00002
NM_001041.4(SI):c.5109-3T>C	rs202110241	0.00002
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)	rs771335037	0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val)	rs775308282	0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln)	rs143135955	0.00002
NM_001041.4(SI):c.952G>A (p.Gly318Ser)	rs749095854	0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=)	rs780057549	0.00002
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)	rs539049352	0.00001
NM_001041.4(SI):c.1169A>G (p.Asp390Gly)	rs1481268075	0.00001
NM_001041.4(SI):c.118+11C>T	rs767898820	0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)	rs777261367	0.00001
NM_001041.4(SI):c.126T>G (p.Ser42Arg)	rs768538979	0.00001
NM_001041.4(SI):c.1278+11A>G	rs756042084	0.00001
NM_001041.4(SI):c.1356G>A (p.Val452=)	rs1453717899	0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala)	rs551453053	0.00001
NM_001041.4(SI):c.1669G>A (p.Asp557Asn)	rs1185540606	0.00001
NM_001041.4(SI):c.1796C>T (p.Ala599Val)	rs747388124	0.00001
NM_001041.4(SI):c.1897G>A (p.Asp633Asn)	rs753216085	0.00001
NM_001041.4(SI):c.2005-11C>T	rs1487909793	0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val)	rs770724135	0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)	rs542969966	0.00001
NM_001041.4(SI):c.2479A>G (p.Lys827Glu)	rs1712533082	0.00001
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)	rs755263405	0.00001
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)	rs756233137	0.00001
NM_001041.4(SI):c.2738T>C (p.Val913Ala)	rs1712193715	0.00001
NM_001041.4(SI):c.2798A>G (p.Gln933Arg)	rs773762538	0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=)	rs377552984	0.00001
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)	rs144419320	0.00001
NM_001041.4(SI):c.2900C>T (p.Ser967Phe)	rs1431852303	0.00001
NM_001041.4(SI):c.2985A>G (p.Ile995Met)	rs766550125	0.00001
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)	rs756776020	0.00001
NM_001041.4(SI):c.3056G>A (p.Arg1019His)	rs562524905	0.00001
NM_001041.4(SI):c.315G>T (p.Trp105Cys)	rs138564183	0.00001
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)	rs760887527	0.00001
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)	rs1000661675	0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)	rs1307836828	0.00001
NM_001041.4(SI):c.3309G>A (p.Ser1103=)	rs765589827	0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)	rs140725570	0.00001
NM_001041.4(SI):c.3404C>T (p.Thr1135Ile)	rs1412604560	0.00001
NM_001041.4(SI):c.3423+11A>G	rs770815174	0.00001
NM_001041.4(SI):c.3423+3A>G	rs766943944	0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)	rs966189337	0.00001
NM_001041.4(SI):c.3521-1G>T	rs757893762	0.00001
NM_001041.4(SI):c.3532C>T (p.Gln1178Ter)	rs898055093	0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)	rs753519683	0.00001
NM_001041.4(SI):c.3562G>A (p.Val1188Ile)	rs372654793	0.00001
NM_001041.4(SI):c.3616A>G (p.Thr1206Ala)	rs763245932	0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=)	rs767992819	0.00001
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)	rs886058143	0.00001
NM_001041.4(SI):c.3843T>G (p.Phe1281Leu)	rs778183835	0.00001
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu)	rs1559990008	0.00001
NM_001041.4(SI):c.4087C>T (p.Pro1363Ser)	rs1576882468	0.00001
NM_001041.4(SI):c.4199G>A (p.Ser1400Asn)	rs753033212	0.00001
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)	rs761717351	0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)	rs796683088	0.00001
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)	rs376437234	0.00001
NM_001041.4(SI):c.4543A>G (p.Met1515Val)	rs1301172097	0.00001
NM_001041.4(SI):c.5248-2A>C	rs1298467427	0.00001
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)	rs535971512	0.00001
NM_001041.4(SI):c.5267T>C (p.Ile1756Thr)	rs751083701	0.00001
NM_001041.4(SI):c.5304G>A (p.Arg1768=)	rs772347173	0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe)	rs371768147	0.00001
NM_001041.4(SI):c.59T>A (p.Val20Asp)	rs771580575	0.00001
NM_001041.4(SI):c.611T>C (p.Ile204Thr)	rs377040463	0.00001
NM_001041.4(SI):c.635+3A>G	rs879204269	0.00001
NM_001041.4(SI):c.832C>T (p.Gln278Ter)	rs754468827	0.00001
NM_001041.4(SI):c.917T>G (p.Ile306Ser)	rs369903847	0.00001
NM_001041.4(SI):c.963G>A (p.Leu321=)	rs562469691	0.00001
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
NM_001041.3(SI):c.*473G>A	rs1717036361
NM_001041.4(SI):c.*151A>G	rs1260115524
NM_001041.4(SI):c.*314del	rs145227457
NM_001041.4(SI):c.1021-7C>G
NM_001041.4(SI):c.1022T>C (p.Leu341Pro)	rs267607049
NM_001041.4(SI):c.1023del (p.Val342fs)	rs1713910885
NM_001041.4(SI):c.1034C>T (p.Pro345Leu)
NM_001041.4(SI):c.106C>A (p.Pro36Thr)
NM_001041.4(SI):c.1126C>T (p.Arg376Trp)
NM_001041.4(SI):c.1127G>A (p.Arg376Gln)
NM_001041.4(SI):c.1129G>A (p.Glu377Lys)
NM_001041.4(SI):c.113T>C (p.Val38Ala)
NM_001041.4(SI):c.1141C>A (p.Pro381Thr)
NM_001041.4(SI):c.1147-13T>A	rs771233611
NM_001041.4(SI):c.1156G>C (p.Val386Leu)
NM_001041.4(SI):c.1167T>G (p.Ile389Met)
NM_001041.4(SI):c.118+6T>C
NM_001041.4(SI):c.1180G>A (p.Asp394Asn)
NM_001041.4(SI):c.119-11dup	rs533057264
NM_001041.4(SI):c.119A>G (p.Glu40Gly)
NM_001041.4(SI):c.1211C>T (p.Ala404Val)	rs202151060
NM_001041.4(SI):c.1238A>C (p.Gln413Pro)
NM_001041.4(SI):c.1278+6_1278+8del
NM_001041.4(SI):c.1290T>G (p.Ile430Met)
NM_001041.4(SI):c.12G>T (p.Lys4Asn)
NM_001041.4(SI):c.1300C>T (p.Arg434Ter)
NM_001041.4(SI):c.1331A>G (p.Tyr444Cys)
NM_001041.4(SI):c.1333G>A (p.Glu445Lys)
NM_001041.4(SI):c.1339G>A (p.Gly447Arg)	rs764176809
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)	rs1446666305
NM_001041.4(SI):c.1380T>C (p.Ser460=)	rs886058148
NM_001041.4(SI):c.1399-402_1513-1189dup
NM_001041.4(SI):c.1404G>A (p.Trp468Ter)
NM_001041.4(SI):c.1447A>C (p.Ile483Leu)
NM_001041.4(SI):c.1452T>C (p.Asp484=)
NM_001041.4(SI):c.1488A>T (p.Glu496Asp)
NM_001041.4(SI):c.1506T>G (p.Leu502=)	rs113511967
NM_001041.4(SI):c.1513-3C>A
NM_001041.4(SI):c.1543_1546delinsCTTTATTCCAGCTTTATA (p.Gly515fs)
NM_001041.4(SI):c.154C>T (p.Arg52Cys)	rs749466707
NM_001041.4(SI):c.1567A>C (p.Asn523His)	rs780055379
NM_001041.4(SI):c.1586C>T (p.Pro529Leu)
NM_001041.4(SI):c.1619A>G (p.Tyr540Cys)	rs1284511719
NM_001041.4(SI):c.1624A>T (p.Lys542Ter)
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)	rs1034161542
NM_001041.4(SI):c.1655G>A (p.Trp552Ter)
NM_001041.4(SI):c.1657G>A (p.Gly553Ser)	rs540565047
NM_001041.4(SI):c.1699G>A (p.Ala567Thr)	rs1441981061
NM_001041.4(SI):c.16T>C (p.Phe6Leu)	rs886058151
NM_001041.4(SI):c.1715+14C>A	rs867982218
NM_001041.4(SI):c.1756C>T (p.Leu586Phe)
NM_001041.4(SI):c.1795G>T (p.Ala599Ser)
NM_001041.4(SI):c.1799A>G (p.His600Arg)
NM_001041.4(SI):c.17T>G (p.Phe6Cys)
NM_001041.4(SI):c.1859T>C (p.Leu620Pro)	rs121912613
NM_001041.4(SI):c.1880del (p.Ile627fs)
NM_001041.4(SI):c.1903T>G (p.Cys635Gly)
NM_001041.4(SI):c.1910T>G (p.Phe637Cys)	rs886058147
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)	rs2473358472
NM_001041.4(SI):c.1914G>A (p.Val638=)
NM_001041.4(SI):c.2004+1G>A
NM_001041.4(SI):c.2005-3C>A
NM_001041.4(SI):c.2025dup (p.Gly676fs)	rs2108219188
NM_001041.4(SI):c.2028dup (p.Gln677fs)	rs751534972
NM_001041.4(SI):c.2042del (p.Leu681fs)
NM_001041.4(SI):c.2043G>T (p.Leu681Phe)
NM_001041.4(SI):c.2075G>A (p.Arg692His)
NM_001041.4(SI):c.207T>A (p.Asp69Glu)
NM_001041.4(SI):c.2111A>C (p.Tyr704Ser)
NM_001041.4(SI):c.212T>C (p.Val71Ala)
NM_001041.4(SI):c.2137G>C (p.Val713Leu)
NM_001041.4(SI):c.2159+2T>G	rs1553775177
NM_001041.4(SI):c.2159+5G>C
NM_001041.4(SI):c.2160-15T>G
NM_001041.4(SI):c.2224A>T (p.Ile742Phe)
NM_001041.4(SI):c.2233G>C (p.Val745Leu)
NM_001041.4(SI):c.2236C>G (p.Leu746Val)
NM_001041.4(SI):c.2242C>T (p.Gln748Ter)	rs2108217077
NM_001041.4(SI):c.2244+14G>A	rs114458546
NM_001041.4(SI):c.2301T>C (p.Ser767=)
NM_001041.4(SI):c.2329C>T (p.Arg777Trp)	rs369923936
NM_001041.4(SI):c.2330G>A (p.Arg777Gln)
NM_001041.4(SI):c.2361A>C (p.Ile787=)	rs116791931
NM_001041.4(SI):c.2381G>T (p.Gly794Val)	rs886058146
NM_001041.4(SI):c.2416A>C (p.Thr806Pro)
NM_001041.4(SI):c.2426+1G>A	rs1712611940
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)	rs370537003
NM_001041.4(SI):c.2429G>A (p.Arg810His)	rs746487509
NM_001041.4(SI):c.2491_2492del (p.Phe831fs)
NM_001041.4(SI):c.2579T>A (p.Ile860Asn)
NM_001041.4(SI):c.2611A>G (p.Thr871Ala)
NM_001041.4(SI):c.2638A>G (p.Ile880Val)
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)	rs1221816681
NM_001041.4(SI):c.2660T>C (p.Val887Ala)
NM_001041.4(SI):c.2687del (p.Asn896fs)
NM_001041.4(SI):c.2715C>A (p.Phe905Leu)
NM_001041.4(SI):c.2716A>T (p.Thr906Ser)
NM_001041.4(SI):c.2728T>C (p.Ser910Pro)
NM_001041.4(SI):c.2736G>C (p.Gln912His)	rs746565689
NM_001041.4(SI):c.2737-11del	rs11452619
NM_001041.4(SI):c.2737-12_2737-11del	rs11452619
NM_001041.4(SI):c.2737-17_2737-11del	rs11452619
NM_001041.4(SI):c.2737-1G>C	rs1294620045
NM_001041.4(SI):c.2737-23_2737-22dup	rs11452619
NM_001041.4(SI):c.2737-23dup	rs11452619
NM_001041.4(SI):c.2737-8del	rs886058145
NM_001041.4(SI):c.2737-9dup	rs747324303
NM_001041.4(SI):c.273_274del (p.Gly92fs)	rs781470490
NM_001041.4(SI):c.2752G>A (p.Asp918Asn)
NM_001041.4(SI):c.2772A>G (p.Gly924=)	rs1712190551
NM_001041.4(SI):c.2777A>G (p.Asn926Ser)
NM_001041.4(SI):c.2800A>C (p.Ile934Leu)
NM_001041.4(SI):c.281G>A (p.Cys94Tyr)
NM_001041.4(SI):c.2830T>C (p.Tyr944His)
NM_001041.4(SI):c.2859A>G (p.Gln953=)	rs1444268809
NM_001041.4(SI):c.285G>A (p.Trp95Ter)
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)	rs2108202378
NM_001041.4(SI):c.2875G>T (p.Gly959Cys)	rs2108202354
NM_001041.4(SI):c.2893-10G>A	rs2473296314
NM_001041.4(SI):c.2893-1G>A	rs2473296292
NM_001041.4(SI):c.2905T>G (p.Ser969Ala)
NM_001041.4(SI):c.2911G>A (p.Ala971Thr)
NM_001041.4(SI):c.2945_2946del (p.Ser982fs)	rs751263307
NM_001041.4(SI):c.2999A>G (p.Gln1000Arg)
NM_001041.4(SI):c.302C>G (p.Ser101Cys)
NM_001041.4(SI):c.3064G>A (p.Val1022Met)	rs201018248
NM_001041.4(SI):c.3075C>A (p.His1025Gln)
NM_001041.4(SI):c.3076A>G (p.Lys1026Glu)	rs2473295201
NM_001041.4(SI):c.3099+1G>C	rs775933206
NM_001041.4(SI):c.3123A>G (p.Arg1041=)
NM_001041.4(SI):c.3182G>C (p.Arg1061Thr)
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)	rs776569472
NM_001041.4(SI):c.3190G>A (p.Asp1064Asn)	rs764256380
NM_001041.4(SI):c.3207_3209delinsTT (p.Glu1069fs)
NM_001041.4(SI):c.3230G>A (p.Arg1077Gln)
NM_001041.4(SI):c.3240C>G (p.Ser1080Arg)	rs768521512
NM_001041.4(SI):c.3335_3336dup (p.Gly1113fs)
NM_001041.4(SI):c.3389C>T (p.Thr1130Ile)
NM_001041.4(SI):c.3430C>T (p.Leu1144Phe)
NM_001041.4(SI):c.3461T>C (p.Met1154Thr)
NM_001041.4(SI):c.350A>G (p.Gln117Arg)	rs121912612
NM_001041.4(SI):c.3523G>T (p.Val1175Phe)
NM_001041.4(SI):c.3533A>G (p.Gln1178Arg)
NM_001041.4(SI):c.3540T>C (p.Thr1180=)	rs759754319
NM_001041.4(SI):c.3547C>G (p.Leu1183Val)
NM_001041.4(SI):c.3548T>C (p.Leu1183Pro)
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)	rs762898979
NM_001041.4(SI):c.3586_3587del (p.Met1196fs)	rs780535026
NM_001041.4(SI):c.3605C>T (p.Pro1202Leu)
NM_001041.4(SI):c.3629A>G (p.His1210Arg)
NM_001041.4(SI):c.3629dup (p.His1210fs)
NM_001041.4(SI):c.3631G>T (p.Glu1211Ter)
NM_001041.4(SI):c.3634-5del	rs750773954
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)	rs121912614
NM_001041.4(SI):c.371T>C (p.Ile124Thr)	rs889224862
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)	rs779155501
NM_001041.4(SI):c.373+11C>T	rs373374968
NM_001041.4(SI):c.3734C>A (p.Ala1245Asp)
NM_001041.4(SI):c.3734C>T (p.Ala1245Val)
NM_001041.4(SI):c.374-11del	rs11313475
NM_001041.4(SI):c.374-11dup	rs11313475
NM_001041.4(SI):c.374-7_374-4del
NM_001041.4(SI):c.374G>C (p.Gly125Ala)
NM_001041.4(SI):c.3750C>A (p.Asn1250Lys)
NM_001041.4(SI):c.3760-1G>A
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)	rs886058144
NM_001041.4(SI):c.3820G>A (p.Ala1274Thr)
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)	rs1559990351
NM_001041.4(SI):c.3872G>A (p.Arg1291Lys)
NM_001041.4(SI):c.3880A>T (p.Ile1294Phe)
NM_001041.4(SI):c.3887T>C (p.Leu1296Pro)
NM_001041.4(SI):c.3943C>T (p.Gln1315Ter)
NM_001041.4(SI):c.3989G>T (p.Cys1330Phe)
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)	rs747041492
NM_001041.4(SI):c.3G>A (p.Met1Ile)	rs1427661221
NM_001041.4(SI):c.4014G>A (p.Leu1338=)	rs1718841872
NM_001041.4(SI):c.404_405insCACCTACACTATTTGGAAATGACATCA (p.Ser135_Pro136insThrTyrThrIleTrpLysTer)
NM_001041.4(SI):c.4062+17C>G	rs1718837805
NM_001041.4(SI):c.4077T>C (p.His1359=)	rs886058142
NM_001041.4(SI):c.4094dup (p.Phe1366fs)	rs1718661487
NM_001041.4(SI):c.4191G>A (p.Glu1397=)	rs886058141
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs)	rs1038499768
NM_001041.4(SI):c.4209T>C (p.Asn1403=)	rs113826825
NM_001041.4(SI):c.4240G>C (p.Glu1414Gln)	rs145734588
NM_001041.4(SI):c.424G>C (p.Asp142His)
NM_001041.4(SI):c.4267+9T>C	rs1718590792
NM_001041.4(SI):c.431A>G (p.Asn144Ser)
NM_001041.4(SI):c.4346C>T (p.Ser1449Leu)
NM_001041.4(SI):c.4353G>C (p.Leu1451Phe)
NM_001041.4(SI):c.4359C>G (p.Tyr1453Ter)
NM_001041.4(SI):c.4381T>G (p.Trp1461Gly)
NM_001041.4(SI):c.4382G>A (p.Trp1461Ter)
NM_001041.4(SI):c.4545G>T (p.Met1515Ile)
NM_001041.4(SI):c.4561_4564del (p.Phe1521fs)
NM_001041.4(SI):c.4575+4A>G
NM_001041.4(SI):c.457del (p.Gln153fs)
NM_001041.4(SI):c.4602dup (p.Asn1535fs)
NM_001041.4(SI):c.4622T>C (p.Leu1541Pro)
NM_001041.4(SI):c.4642C>T (p.Leu1548Phe)
NM_001041.4(SI):c.4674C>G (p.His1558Gln)
NM_001041.4(SI):c.4692+4T>A
NM_001041.4(SI):c.469C>G (p.Arg157Gly)
NM_001041.4(SI):c.4727C>T (p.Ala1576Val)
NM_001041.4(SI):c.4759T>A (p.Tyr1587Asn)
NM_001041.4(SI):c.4763C>T (p.Thr1588Ile)
NM_001041.4(SI):c.4772C>A (p.Pro1591His)	rs1717913697
NM_001041.4(SI):c.4793A>T (p.His1598Leu)	rs562705407
NM_001041.4(SI):c.4804G>T (p.Ala1602Ser)
NM_001041.4(SI):c.4817C>G (p.Thr1606Ser)	rs376062850
NM_001041.4(SI):c.4817C>T (p.Thr1606Ile)	rs376062850
NM_001041.4(SI):c.483+8T>G	rs1714387601
NM_001041.4(SI):c.4839T>C (p.His1613=)
NM_001041.4(SI):c.4841+15T>A	rs1041663787
NM_001041.4(SI):c.4841+1G>A
NM_001041.4(SI):c.4842-3G>A	rs112107483
NM_001041.4(SI):c.4866G>C (p.Trp1622Cys)
NM_001041.4(SI):c.4894C>G (p.Pro1632Ala)
NM_001041.4(SI):c.4927-1G>A
NM_001041.4(SI):c.4937C>G (p.Thr1646Ser)
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)	rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)	rs760505676
NM_001041.4(SI):c.4999G>A (p.Val1667Ile)	rs142018224
NM_001041.4(SI):c.5050C>T (p.His1684Tyr)
NM_001041.4(SI):c.5053G>A (p.Val1685Ile)
NM_001041.4(SI):c.5056C>T (p.Arg1686Cys)
NM_001041.4(SI):c.5156T>C (p.Met1719Thr)
NM_001041.4(SI):c.518C>T (p.Pro173Leu)
NM_001041.4(SI):c.5198-20dup	rs566002300
NM_001041.4(SI):c.5261G>A (p.Ser1754Asn)
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)	rs145556619
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)	rs145556619
NM_001041.4(SI):c.5319T>C (p.His1773=)	rs774545616
NM_001041.4(SI):c.5371G>T (p.Gly1791Ter)
NM_001041.4(SI):c.5385G>A (p.Ser1795=)	rs759867192
NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)	rs774261150
NM_001041.4(SI):c.545dup (p.Pro183fs)
NM_001041.4(SI):c.5464A>G (p.Ile1822Val)	rs965822078
NM_001041.4(SI):c.567G>A (p.Leu189=)	rs76463353
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)	rs1714299831
NM_001041.4(SI):c.593C>T (p.Pro198Leu)
NM_001041.4(SI):c.635+2T>C	rs1185991890
NM_001041.4(SI):c.636-14_636-10del	rs886058150
NM_001041.4(SI):c.636-22_636-19del	rs558953371
NM_001041.4(SI):c.650T>C (p.Ile217Thr)
NM_001041.4(SI):c.675G>A (p.Gln225=)
NM_001041.4(SI):c.682C>T (p.Gln228Ter)
NM_001041.4(SI):c.686T>A (p.Ile229Asn)
NM_001041.4(SI):c.70G>A (p.Ala24Thr)
NM_001041.4(SI):c.727G>A (p.Glu243Lys)
NM_001041.4(SI):c.751C>T (p.His251Tyr)
NM_001041.4(SI):c.752A>T (p.His251Leu)	rs768888806
NM_001041.4(SI):c.793del (p.Gln265fs)	rs1714177959
NM_001041.4(SI):c.803G>C (p.Gly268Ala)
NM_001041.4(SI):c.822A>T (p.Leu274Phe)
NM_001041.4(SI):c.834_837del (p.Gln278fs)	rs769229932
NM_001041.4(SI):c.848G>A (p.Cys283Tyr)
NM_001041.4(SI):c.853G>T (p.Glu285Ter)	rs758259365
NM_001041.4(SI):c.886_887dup (p.Leu296fs)
NM_001041.4(SI):c.891G>T (p.Met297Ile)
NM_001041.4(SI):c.916A>C (p.Ile306Leu)
NM_001041.4(SI):c.938C>T (p.Thr313Ile)

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.