List of variants in gene MMAA studied for disorder of metabolite absorption and transport

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: 499

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.*2608T>C	rs7699187	0.51441
NM_172250.3(MMAA):c.*2768A>T	rs7699166	0.51403
NM_172250.3(MMAA):c.734-74G>A	rs11721510	0.28813
NM_172250.3(MMAA):c.*2866A>G	rs17020500	0.22820
NM_172250.3(MMAA):c.747G>A (p.Ser249=)	rs11721553	0.07844
NM_172250.3(MMAA):c.*3621G>A	rs55770806	0.07335
NM_172250.3(MMAA):c.-56A>G	rs4835011	0.06388
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	rs2270655	0.04892
NM_172250.3(MMAA):c.*2142T>C	rs72723824	0.03954
NM_172250.3(MMAA):c.*2658G>A	rs72723825	0.03953
NM_172250.3(MMAA):c.*306T>A	rs74409983	0.03738
NM_172250.3(MMAA):c.*3285G>A	rs142885287	0.03017
NM_172250.3(MMAA):c.*2364A>G	rs13129907	0.02803
NM_172250.3(MMAA):c.*2372T>A	rs74719174	0.02233
NM_172250.3(MMAA):c.*434C>T	rs72950841	0.01492
NM_172250.3(MMAA):c.*3824C>A	rs72950842	0.01396
NM_172250.3(MMAA):c.*4336A>G	rs138752110	0.01347
NM_172250.3(MMAA):c.*1782A>G	rs114134771	0.01301
NM_172250.3(MMAA):c.138T>C (p.Ser46=)	rs34702224	0.01204
NM_172250.3(MMAA):c.*600G>A	rs112882351	0.00820
NM_172250.3(MMAA):c.*2807C>T	rs7675466	0.00480
NM_172250.3(MMAA):c.*541A>G	rs114729477	0.00424
NM_172250.3(MMAA):c.*1966C>T	rs147742767	0.00337
NM_172250.3(MMAA):c.*4326A>T	rs182426004	0.00304
NM_172250.3(MMAA):c.*1610C>T	rs185925141	0.00285
NM_172250.3(MMAA):c.597G>A (p.Glu199=)	rs116773849	0.00262
NM_172250.3(MMAA):c.*4533C>T	rs114762906	0.00244
NM_172250.3(MMAA):c.*97G>C	rs148424051	0.00178
NM_172250.3(MMAA):c.*3325C>T	rs529131828	0.00170
NM_172250.3(MMAA):c.-14C>T	rs138947726	0.00164
NM_172250.3(MMAA):c.*1988A>T	rs141116337	0.00156
NM_172250.3(MMAA):c.*188A>G	rs886059091	0.00150
NM_172250.3(MMAA):c.*3035A>C	rs576544645	0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=)	rs146372922	0.00135
NM_172250.3(MMAA):c.*192G>A	rs188845060	0.00078
NM_172250.3(MMAA):c.*1952T>C	rs79927727	0.00074
NM_172250.3(MMAA):c.966A>G (p.Pro322=)	rs150692463	0.00073
NM_172250.3(MMAA):c.879A>G (p.Gly293=)	rs146352309	0.00072
NM_172250.3(MMAA):c.*3254A>C	rs539831571	0.00048
NM_172250.3(MMAA):c.*4103G>A	rs191381122	0.00040
NM_172250.3(MMAA):c.*2562C>T	rs529092235	0.00039
NM_172250.3(MMAA):c.*342A>G	rs886059093	0.00037
NM_172250.3(MMAA):c.57A>G (p.Ala19=)	rs143211378	0.00035
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	rs371714495	0.00031
NM_172250.3(MMAA):c.*2139A>G	rs772671304	0.00029
NM_172250.3(MMAA):c.*1584A>G	rs530538534	0.00027
NM_172250.3(MMAA):c.*177A>G	rs572996882	0.00027
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)	rs144313458	0.00027
NM_172250.3(MMAA):c.*2471G>A	rs886059106	0.00020
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	rs374347679	0.00017
NM_172250.3(MMAA):c.729C>T (p.Thr243=)	rs138111772	0.00014
NM_172250.3(MMAA):c.*1425C>T	rs529476650	0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His)	rs148142853	0.00012
NM_172250.3(MMAA):c.*942A>G	rs886059096	0.00011
NM_172250.3(MMAA):c.440-17A>T	rs373100355	0.00011
NM_172250.3(MMAA):c.*2808G>A	rs543019315	0.00009
NM_172250.3(MMAA):c.*4539T>G	rs558703264	0.00009
NM_172250.3(MMAA):c.440-6C>T	rs374784209	0.00009
NM_172250.3(MMAA):c.7A>G (p.Met3Val)	rs527340737	0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)	rs374795215	0.00009
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)	rs6812252	0.00008
NM_172250.3(MMAA):c.1236A>G (p.Lys412=)	rs184111056	0.00007
NM_172250.3(MMAA):c.733+13T>C	rs768662983	0.00007
NM_172250.3(MMAA):c.977G>A (p.Arg326His)	rs201547892	0.00007
NM_172250.3(MMAA):c.*2645C>T	rs568954220	0.00006
NM_172250.3(MMAA):c.*4228T>C	rs533826043	0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)	rs777459994	0.00006
NM_172250.3(MMAA):c.701C>T (p.Ala234Val)	rs367609164	0.00006
NM_172250.3(MMAA):c.850G>C (p.Asp284His)	rs758654806	0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)	rs142126209	0.00006
NM_172250.3(MMAA):c.947G>A (p.Arg316His)	rs377228966	0.00006
NM_172250.3(MMAA):c.*3087A>G	rs983988317	0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	rs199749473	0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn)	rs778178659	0.00005
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)	rs767115507	0.00005
NM_172250.3(MMAA):c.175G>C (p.Asp59His)	rs371779800	0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=)	rs371769807	0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)	rs140031911	0.00005
NM_172250.3(MMAA):c.*1227A>T	rs375194713	0.00004
NM_172250.3(MMAA):c.*1284G>A	rs564976817	0.00004
NM_172250.3(MMAA):c.*2903C>T	rs886059110	0.00004
NM_172250.3(MMAA):c.*3703T>C	rs760429837	0.00004
NM_172250.3(MMAA):c.*4324G>A	rs910534961	0.00004
NM_172250.3(MMAA):c.*890G>A	rs771012374	0.00004
NM_172250.3(MMAA):c.-4G>A	rs374109118	0.00004
NM_172250.3(MMAA):c.378A>G (p.Val126=)	rs750237065	0.00004
NM_172250.3(MMAA):c.440-4G>A	rs780768376	0.00004
NM_172250.3(MMAA):c.562+11C>T	rs746737805	0.00004
NM_172250.3(MMAA):c.610A>G (p.Met204Val)	rs370375675	0.00004
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)	rs375682603	0.00004
NM_172250.3(MMAA):c.*1273C>T	rs1001420347	0.00003
NM_172250.3(MMAA):c.*1940T>C	rs1054381866	0.00003
NM_172250.3(MMAA):c.*3801A>G	rs886059116	0.00003
NM_172250.3(MMAA):c.*4457A>G	rs896375111	0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_172250.3(MMAA):c.563-12T>C	rs199938583	0.00003
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)	rs144389160	0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met)	rs150376474	0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=)	rs759947234	0.00003
NM_172250.3(MMAA):c.970-5G>A	rs370814663	0.00003
NM_172250.3(MMAA):c.*152A>G	rs749564150	0.00002
NM_172250.3(MMAA):c.*1918G>A	rs755382235	0.00002
NM_172250.3(MMAA):c.*3222T>C	rs886059112	0.00002
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)	rs552250080	0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958	0.00002
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)	rs1209585004	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)	rs772082690	0.00002
NM_172250.3(MMAA):c.585C>T (p.Thr195=)	rs571797666	0.00002
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)	rs746853773	0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)	rs369128670	0.00002
NM_172250.3(MMAA):c.970-6C>T	rs774402841	0.00002
NM_172250.3(MMAA):c.*1779T>C	rs886059097	0.00001
NM_172250.3(MMAA):c.*1819C>G	rs983321169	0.00001
NM_172250.3(MMAA):c.*229T>C	rs886059092	0.00001
NM_172250.3(MMAA):c.*2378A>G	rs886059104	0.00001
NM_172250.3(MMAA):c.*2444C>G	rs934446234	0.00001
NM_172250.3(MMAA):c.*2479G>A	rs886059107	0.00001
NM_172250.3(MMAA):c.*2627A>G	rs886059109	0.00001
NM_172250.3(MMAA):c.*353C>A	rs1302018790	0.00001
NM_172250.3(MMAA):c.*4504C>A	rs1009787082	0.00001
NM_172250.3(MMAA):c.*540A>T	rs886059094	0.00001
NM_172250.3(MMAA):c.*67G>A	rs886059090	0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)	rs756437003	0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	rs864309731	0.00001
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)	rs1560802980	0.00001
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)	rs754474832	0.00001
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)	rs1010401774	0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)	rs191643294	0.00001
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)	rs758345818	0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=)	rs779779664	0.00001
NM_172250.3(MMAA):c.159G>A (p.Lys53=)	rs1191388669	0.00001
NM_172250.3(MMAA):c.15A>G (p.Leu5=)	rs755914586	0.00001
NM_172250.3(MMAA):c.177T>C (p.Asp59=)	rs1727713075	0.00001
NM_172250.3(MMAA):c.258G>A (p.Val86=)	rs1240108337	0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	rs104893846	0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	rs1328584680	0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)	rs1284134117	0.00001
NM_172250.3(MMAA):c.336C>T (p.His112=)	rs771388415	0.00001
NM_172250.3(MMAA):c.33T>C (p.His11=)	rs370983676	0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	rs760875006	0.00001
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)	rs965827040	0.00001
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)	rs369113922	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_172250.3(MMAA):c.440-5C>T	rs759611574	0.00001
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)	rs753463116	0.00001
NM_172250.3(MMAA):c.563-9A>G	rs1361037765	0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	rs1029096863	0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	rs765799472	0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs)	rs1314623572	0.00001
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)	rs1036460255	0.00001
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)	rs889048711	0.00001
NM_172250.3(MMAA):c.702G>A (p.Ala234=)	rs781525637	0.00001
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)	rs756221585	0.00001
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)	rs371068331	0.00001
NM_172250.3(MMAA):c.733+1G>A	rs779939886	0.00001
NM_172250.3(MMAA):c.734-7A>G	rs753938949	0.00001
NM_172250.3(MMAA):c.734-8A>G	rs778057240	0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	rs757548934	0.00001
NM_172250.3(MMAA):c.756T>C (p.Ala252=)	rs781124654	0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs)	rs1489525542	0.00001
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)	rs769722136	0.00001
NM_172250.3(MMAA):c.763G>C (p.Asp255His)	rs1267434098	0.00001
NM_172250.3(MMAA):c.795A>C (p.Pro265=)	rs767934772	0.00001
NM_172250.3(MMAA):c.819+10T>A	rs1202834297	0.00001
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)	rs1204400776	0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	rs761964238	0.00001
NM_172250.3(MMAA):c.840C>T (p.Ile280=)	rs750509072	0.00001
NM_172250.3(MMAA):c.86A>G (p.His29Arg)	rs367809749	0.00001
NM_172250.3(MMAA):c.891G>A (p.Val297=)	rs1315370286	0.00001
NM_172250.3(MMAA):c.927A>G (p.Ala309=)	rs769082931	0.00001
NM_172250.3(MMAA):c.970-7T>C	rs770942394	0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	rs571038432	0.00001
NC_000004.11:g.(?_146575136)_(146576596_?)del
NC_000004.12:g.(?_145639120)_(145642505_?)del
NM_172250.3(MMAA):c.*1149C>G	rs999175069
NM_172250.3(MMAA):c.*1221A>G	rs1728241243
NM_172250.3(MMAA):c.*1510C>T	rs1045440002
NM_172250.3(MMAA):c.*1558C>G	rs998811243
NM_172250.3(MMAA):c.*190C>T	rs1728208709
NM_172250.3(MMAA):c.*1924T>C	rs886059100
NM_172250.3(MMAA):c.*2343A>G	rs886059103
NM_172250.3(MMAA):c.*2445A>C	rs886059105
NM_172250.3(MMAA):c.*2448T>C	rs914268952
NM_172250.3(MMAA):c.*2479G>T	rs886059107
NM_172250.3(MMAA):c.*2646G>A	rs999780084
NM_172250.3(MMAA):c.*3125C>T	rs886059111
NM_172250.3(MMAA):c.*3213C>T	rs1317371212
NM_172250.3(MMAA):c.*3385C>T	rs1296968983
NM_172250.3(MMAA):c.*3797A>G	rs1578891934
NM_172250.3(MMAA):c.*3880G>A	rs1728325081
NM_172250.3(MMAA):c.*3934C>G	rs753155141
NM_172250.3(MMAA):c.*4044T>C	rs556788892
NM_172250.3(MMAA):c.*4200G>T	rs1346413343
NM_172250.3(MMAA):c.*581G>T	rs936007824
NM_172250.3(MMAA):c.*611A>C	rs1728220748
NM_172250.3(MMAA):c.*661C>T	rs1728222063
NM_172250.3(MMAA):c.*703C>T	rs548243828
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)	rs758394680
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)	rs1018880684
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)	rs2126629821
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)	rs2126629831
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)	rs869320657
NM_172250.3(MMAA):c.1034del (p.Phe345fs)	rs398124552
NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)	rs754630744
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)	rs866580843
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)	rs1302017266
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)	rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)	rs999844958
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
NM_172250.3(MMAA):c.1095T>C (p.Val365=)	rs2126629917
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
NM_172250.3(MMAA):c.1124del (p.Val375fs)
NM_172250.3(MMAA):c.112del (p.Ile38fs)
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)	rs2126629961
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)	rs1728200540
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)	rs1057520160
NM_172250.3(MMAA):c.1145del (p.His382fs)
NM_172250.3(MMAA):c.1146C>T (p.His382=)	rs1186287486
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)	rs2126629982
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)	rs2126630021
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)	rs1578888894
NM_172250.3(MMAA):c.117A>G (p.Pro39=)	rs2126617113
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)	rs1553959152
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)	rs895867414
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)	rs2126630061
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)	rs1374931888
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)	rs1728203978
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	rs758345818
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)	rs2126617138
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	rs886059088
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)	rs1560795828
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
NM_172250.3(MMAA):c.150T>C (p.His50=)	rs2126617181
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	rs864309725
NM_172250.3(MMAA):c.166C>T (p.Leu56=)	rs2126617212
NM_172250.3(MMAA):c.168G>A (p.Leu56=)	rs1396471571
NM_172250.3(MMAA):c.168G>T (p.Leu56=)	rs1396471571
NM_172250.3(MMAA):c.170del (p.Leu57fs)
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
NM_172250.3(MMAA):c.1A>G (p.Met1Val)	rs1553957856
NM_172250.3(MMAA):c.201A>G (p.Val67=)
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)	rs754894257
NM_172250.3(MMAA):c.204A>G (p.Gln68=)	rs1727714117
NM_172250.3(MMAA):c.206del (p.Thr69fs)	rs1553957901
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)	rs1328208245
NM_172250.3(MMAA):c.21T>C (p.His7=)
NM_172250.3(MMAA):c.222C>T (p.His74=)	rs1578877626
NM_172250.3(MMAA):c.240T>C (p.Asp80=)	rs2126617322
NM_172250.3(MMAA):c.246G>A (p.Glu82=)	rs750230122
NM_172250.3(MMAA):c.255T>C (p.Phe85=)	rs2126617358
NM_172250.3(MMAA):c.255del (p.Phe85fs)
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
NM_172250.3(MMAA):c.267_268del (p.Thr91fs)	rs1553957906
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	rs148404005
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
NM_172250.3(MMAA):c.288G>A (p.Gly96=)	rs559279147
NM_172250.3(MMAA):c.290_296del (p.Gln97fs)	rs1553957907
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)	rs1553957915
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	rs780082584
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
NM_172250.3(MMAA):c.314dup (p.Thr106fs)	rs1727720677
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
NM_172250.3(MMAA):c.335A>G (p.His112Arg)	rs2126617469
NM_172250.3(MMAA):c.342G>A (p.Arg114=)	rs774790573
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)	rs864309727
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
NM_172250.3(MMAA):c.363G>C (p.Val121=)	rs2126617517
NM_172250.3(MMAA):c.369T>G (p.Leu123=)	rs1418638749
NM_172250.3(MMAA):c.36C>T (p.Phe12=)	rs1661385949
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)	rs796064514
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)	rs1727722684
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro)	rs560188002
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
NM_172250.3(MMAA):c.388del (p.His130fs)
NM_172250.3(MMAA):c.390C>T (p.His130=)
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	rs754545360
NM_172250.3(MMAA):c.39A>C (p.Leu13=)	rs1727705456
NM_172250.3(MMAA):c.402A>G (p.Glu134=)	rs2126617588
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
NM_172250.3(MMAA):c.405del (p.Gln135fs)
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.414A>G (p.Lys138=)	rs1237655127
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.439+12T>G
NM_172250.3(MMAA):c.439+14G>T
NM_172250.3(MMAA):c.439+14del
NM_172250.3(MMAA):c.439+16G>C
NM_172250.3(MMAA):c.439+1G>A	rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del	rs1553957939
NM_172250.3(MMAA):c.439+9T>C
NM_172250.3(MMAA):c.440-10dup
NM_172250.3(MMAA):c.440-19A>C
NM_172250.3(MMAA):c.440-2A>G
NM_172250.3(MMAA):c.440-7A>C	rs1337205137
NM_172250.3(MMAA):c.440-9C>A
NM_172250.3(MMAA):c.441dup (p.Leu148fs)	rs1553958126
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.453C>G (p.Pro151=)	rs879110861
NM_172250.3(MMAA):c.455del (p.Pro152fs)	rs1553958127
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
NM_172250.3(MMAA):c.468dup (p.Ser157fs)	rs2126619930
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
NM_172250.3(MMAA):c.503del (p.Thr168fs)	rs864309728
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)	rs1553958153
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
NM_172250.3(MMAA):c.513G>A (p.Gly171=)	rs2126620000
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.527_528del (p.Val176fs)	rs1553958158
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
NM_172250.3(MMAA):c.54del (p.Ala19fs)
NM_172250.3(MMAA):c.551dup (p.Cys184fs)	rs1553958159
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)	rs1727814966
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
NM_172250.3(MMAA):c.562+1G>A	rs869320656
NM_172250.3(MMAA):c.562+1G>T	rs869320656
NM_172250.3(MMAA):c.562+2T>C
NM_172250.3(MMAA):c.562+4A>C	rs1336573288
NM_172250.3(MMAA):c.562+7A>T	rs2126620073
NM_172250.3(MMAA):c.562+8T>C
NM_172250.3(MMAA):c.562+9G>A	rs2126620076
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)	rs864309729
NM_172250.3(MMAA):c.563-17G>A
NM_172250.3(MMAA):c.563-4T>A
NM_172250.3(MMAA):c.564A>T (p.Gly188=)	rs1727918663
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp)	rs1553958392
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	rs796051993
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	rs1553958395
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
NM_172250.3(MMAA):c.600A>G (p.Leu200=)	rs2126622751
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.601del (p.Ser201fs)
NM_172250.3(MMAA):c.603A>G (p.Ser201=)	rs2126622760
NM_172250.3(MMAA):c.618A>G (p.Ala206=)	rs1727920444
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys)	rs104893849
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.639del (p.Arg214fs)	rs2126622813
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	rs140356252
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	rs864309730
NM_172250.3(MMAA):c.657C>A (p.Gly219=)	rs1291307841
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)	rs941689476
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)	rs375682603
NM_172250.3(MMAA):c.663A>G (p.Thr221=)	rs2126622855
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)	rs920825350
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)	rs2126622891
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)	rs1727922828
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)	rs752844506
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe)	rs756221585
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn)	rs1553958417
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	rs1553957883
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)	rs771044996
NM_172250.3(MMAA):c.733+12A>G
NM_172250.3(MMAA):c.733+16T>G
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.733+9G>A
NM_172250.3(MMAA):c.734-13T>C
NM_172250.3(MMAA):c.734-15G>A
NM_172250.3(MMAA):c.734-20G>A
NM_172250.3(MMAA):c.734-9C>A	rs756275016
NM_172250.3(MMAA):c.734-9C>T	rs756275016
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
NM_172250.3(MMAA):c.762T>C (p.Ala254=)	rs1033389087
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)	rs1728076151
NM_172250.3(MMAA):c.771T>C (p.Val257=)	rs2126627142
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)	rs1328403056
NM_172250.3(MMAA):c.780del (p.Phe260fs)
NM_172250.3(MMAA):c.783T>A (p.Val261=)	rs2126627167
NM_172250.3(MMAA):c.783T>G (p.Val261=)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
NM_172250.3(MMAA):c.78C>T (p.Phe26=)	rs2126617065
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)	rs2126627182
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)	rs138854691
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)	rs1553958720
NM_172250.3(MMAA):c.816G>A (p.Leu272=)	rs1728078075
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
NM_172250.3(MMAA):c.819+11T>G
NM_172250.3(MMAA):c.819+13del
NM_172250.3(MMAA):c.819+19dup
NM_172250.3(MMAA):c.819+8T>C
NM_172250.3(MMAA):c.81C>T (p.Ile27=)	rs2126617076
NM_172250.3(MMAA):c.820-10A>C	rs2126629035
NM_172250.3(MMAA):c.820-13C>G
NM_172250.3(MMAA):c.820-15T>G
NM_172250.3(MMAA):c.820-1G>A	rs1553959017
NM_172250.3(MMAA):c.820-1G>C	rs1553959017
NM_172250.3(MMAA):c.820-2A>G
NM_172250.3(MMAA):c.820-7T>C
NM_172250.3(MMAA):c.820-8C>G	rs1728162232
NM_172250.3(MMAA):c.821del
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
NM_172250.3(MMAA):c.851del (p.Asp284fs)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.858A>G (p.Val286=)	rs142063642
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp)	rs1553959024
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
NM_172250.3(MMAA):c.862G>A (p.Val288Ile)	rs886059089
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
NM_172250.3(MMAA):c.875A>T (p.Asp292Val)	rs1553959025
NM_172250.3(MMAA):c.885G>A (p.Leu295=)	rs2126629113
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)	rs1340736923
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
NM_172250.3(MMAA):c.924T>C (p.Ser308=)	rs2126629166
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)	rs1728166357
NM_172250.3(MMAA):c.933A>G (p.Lys311=)	rs2126629176
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
NM_172250.3(MMAA):c.940del (p.Arg314fs)
NM_172250.3(MMAA):c.942C>A (p.Arg314=)	rs773218154
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)	rs751717131
NM_172250.3(MMAA):c.957C>T (p.Val319=)
NM_172250.3(MMAA):c.963_969+4del
NM_172250.3(MMAA):c.969+10C>T	rs1728168081
NM_172250.3(MMAA):c.969+15A>C
NM_172250.3(MMAA):c.969+15A>G
NM_172250.3(MMAA):c.969+18C>T
NM_172250.3(MMAA):c.969+20G>T
NM_172250.3(MMAA):c.969+9G>A	rs1007611523
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
NM_172250.3(MMAA):c.970-19G>T
NM_172250.3(MMAA):c.970-2A>T	rs1553959113
NM_172250.3(MMAA):c.970-3dup
NM_172250.3(MMAA):c.970-4A>T	rs1728189053
NM_172250.3(MMAA):c.970-5G>T
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)	rs1010220185
NM_172250.3(MMAA):c.972A>G (p.Val324=)	rs2126629778
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
NM_172250.3(MMAA):c.99T>C (p.His33=)	rs2126617089

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