NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
NM_005271.5(GLUD1):c.*852A>G
|
rs150260124
|
0.00846
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
NM_005271.5(GLUD1):c.*908T>C
|
rs140942830
|
0.00817
|
NM_005271.5(GLUD1):c.*972G>A
|
rs12980
|
0.00335
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
NM_005271.5(GLUD1):c.*1282G>C
|
rs181931207
|
0.00208
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_005271.5(GLUD1):c.*1379C>T
|
rs181813972
|
0.00030
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_005271.5(GLUD1):c.468G>A (p.Val156=)
|
rs780979729
|
0.00009
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
|
rs759865842
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.526+11G>A
|
rs757850230
|
0.00002
|
NM_005271.5(GLUD1):c.527-4T>G
|
rs779153065
|
0.00002
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
0.00001
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.527-12C>T
|
rs780201965
|
0.00001
|
NM_005271.5(GLUD1):c.594G>A (p.Leu198=)
|
rs781638449
|
0.00001
|
NM_005271.5(GLUD1):c.630A>G (p.Ala210=)
|
rs368203417
|
0.00001
|
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
|
rs761375132
|
0.00001
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
NC_000010.10:g.(?_88811508)_(88822612_?)dup
|
|
|
NC_000010.10:g.(?_88854062)_(88854526_?)del
|
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
NM_005271.5(GLUD1):c.*355T>G
|
rs569595849
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala)
|
rs121909735
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
|
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
NM_005271.5(GLUD1):c.1197+20C>G
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
NM_005271.5(GLUD1):c.1198-9C>G
|
rs201421730
|
|
NM_005271.5(GLUD1):c.1198-9C>T
|
|
|
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
NM_005271.5(GLUD1):c.1279-19G>T
|
|
|
NM_005271.5(GLUD1):c.1279-3T>C
|
rs1845868081
|
|
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
|
rs1845866673
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)
|
rs2133788934
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1495-14C>A
|
rs2133777461
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)
|
rs121909732
|
|
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
|
rs2133777379
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
|
|
|
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
NM_005271.5(GLUD1):c.1647G>A (p.Val549=)
|
rs756484571
|
|
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
NM_005271.5(GLUD1):c.446-5634T>C
|
rs1841280208
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
NM_005271.5(GLUD1):c.446-9C>T
|
rs1846404467
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
|
rs1846403678
|
|
NM_005271.5(GLUD1):c.526+10C>T
|
|
|
NM_005271.5(GLUD1):c.534G>T (p.Pro178=)
|
rs764675203
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.582+18A>G
|
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
NM_005271.5(GLUD1):c.646+16_646+17del
|
rs201141455
|
|
NM_005271.5(GLUD1):c.647-14C>T
|
|
|
NM_005271.5(GLUD1):c.647-5C>G
|
rs201611802
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)
|
rs886047377
|
|
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
|
|
|
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
|
rs2133811373
|
|
NM_005271.5(GLUD1):c.742-8del
|
|
|
NM_005271.5(GLUD1):c.756C>T (p.His252=)
|
|
|
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
|
|
|
NM_005271.5(GLUD1):c.771T>G (p.Gly257=)
|
rs144831842
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
|
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|