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.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
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.1381C>T (p.Arg461Trp)
|
rs761957837
|
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.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_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.793C>T (p.Arg265Cys)
|
rs779483959
|
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.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del)
|
rs1554652793
|
|
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del)
|
rs1554652791
|
|
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.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.2124_2126dup (p.Glu708_Asn709insLys)
|
rs1554643929
|
|
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.2458A>G (p.Met820Val)
|
rs781682244
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
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.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
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+2dup
|
rs976598152
|
|
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.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup)
|
rs1553638433
|
|