NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)
|
rs8052579
|
0.79247
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_000170.3(GLDC):c.249G>A (p.Gly83=)
|
rs12341698
|
0.21682
|
NM_000170.3(GLDC):c.660C>T (p.Leu220=)
|
rs2228095
|
0.07130
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
NM_004483.5(GCSH):c.159C>T (p.Phe53=)
|
rs8177876
|
0.05863
|
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val)
|
rs73400312
|
0.04004
|
NM_004483.5(GCSH):c.252T>C (p.Tyr84=)
|
rs8177907
|
0.03948
|
NM_004483.5(GCSH):c.261C>G (p.Leu87=)
|
rs8177908
|
0.03948
|
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)
|
rs8177877
|
0.03699
|
NM_004483.5(GCSH):c.90C>G (p.Pro30=)
|
rs8177847
|
0.03370
|
NM_000170.3(GLDC):c.666T>C (p.Asp222=)
|
rs12004164
|
0.02547
|
NM_000170.3(GLDC):c.1482+19T>C
|
rs79114789
|
0.02433
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_000170.3(GLDC):c.1815C>T (p.Leu605=)
|
rs74461075
|
0.01328
|
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.2919+3A>G
|
rs73639325
|
0.00620
|
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.1261+19T>C
|
rs192870343
|
0.00431
|
NM_000170.3(GLDC):c.2457+8C>T
|
rs147308839
|
0.00421
|
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_000481.4(AMT):c.898A>G (p.Met300Val)
|
rs144971200
|
0.00397
|
NM_004483.5(GCSH):c.148+15C>T
|
rs544589105
|
0.00355
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
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.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
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.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.222C>T (p.Asp74=)
|
rs148373517
|
0.00096
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
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.936C>T (p.Ile312=)
|
rs79057118
|
0.00058
|
NM_000170.3(GLDC):c.470+11T>C
|
rs142534180
|
0.00051
|
NM_000170.3(GLDC):c.2202+19C>T
|
rs187370615
|
0.00041
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)
|
rs190430477
|
0.00028
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_000170.3(GLDC):c.635+16A>G
|
rs182471927
|
0.00012
|
NM_000170.3(GLDC):c.2920-8C>T
|
rs138786708
|
0.00006
|
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)
|
rs201890453
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.861+10C>T
|
rs565335444
|
0.00001
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6del
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.636-12del
|
|
|
NM_000481.4(AMT):c.471+10del
|
|
|
NM_000481.4(AMT):c.471+10dup
|
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_004483.5(GCSH):c.293-16dup
|
rs202181338
|
|