NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
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.231G>A (p.Ser77=)
|
rs779002947
|
0.00005
|
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_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
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.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
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.*5C>G
|
rs764814250
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
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.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.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)
|
rs751362463
|
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.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)
|
rs751025203
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
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_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.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
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.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_032316.3(NICN1):c.*2317A>G
|
rs1553638927
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
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.1194C>A (p.Tyr398Ter)
|
rs1226098656
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del)
|
rs1554652793
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del)
|
rs1554652791
|
|
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)
|
rs1554646653
|
|
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.1819G>A (p.Gly607Ser)
|
rs1554646517
|
|
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)
|
rs1554652789
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
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.2081_2088del (p.Ala694fs)
|
rs1196401015
|
|
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)
|
rs1554643929
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2458-1G>T
|
rs1554643370
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.2458A>G (p.Met820Val)
|
rs781682244
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)
|
rs1163356968
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
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.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs)
|
rs1554641737
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg)
|
rs1057515605
|
|
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter)
|
rs1554641519
|
|
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.3040G>T (p.Glu1014Ter)
|
rs1444245039
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg)
|
rs1554648113
|
|
NM_000170.3(GLDC):c.851A>C (p.His284Pro)
|
rs1210767970
|
|
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe)
|
rs200413149
|
|
NM_000481.4(AMT):c.1033+2T>C
|
rs1553638247
|
|
NM_000481.4(AMT):c.1033+2dup
|
rs976598152
|
|
NM_000481.4(AMT):c.1034-1dup
|
rs1238918084
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)
|
rs747544827
|
|
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)
|
rs1553638206
|
|
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs)
|
rs1553638191
|
|
NM_000481.4(AMT):c.1209del (p.Lys403fs)
|
rs1553638189
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
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.348_349del (p.Ser117fs)
|
rs1553638649
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
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.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
NM_000481.4(AMT):c.696+1G>A
|
rs1553638460
|
|
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup)
|
rs1553638433
|
|
NM_000481.4(AMT):c.849dup (p.Val284fs)
|
rs1553638408
|
|
NM_000481.4(AMT):c.875del (p.Leu292fs)
|
rs1553638405
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|