NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_000481.4(AMT):c.-1G>A
|
rs143841175
|
0.00328
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg)
|
rs386833527
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)
|
rs386833530
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)
|
rs121964975
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
|
rs1587908683
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
|
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)
|
rs386833682
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|