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NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)
|
rs9745522
|
0.11789
|
|
NM_019109.5(ALG1):c.*787C>G
|
rs142385356
|
0.00184
|
|
NM_019109.5(ALG1):c.1281T>C (p.Phe427=)
|
rs538385814
|
0.00013
|
|
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)
|
rs397839861
|
0.00004
|
|
NM_019109.5(ALG1):c.1353G>A (p.Glu451=)
|
rs772562254
|
0.00004
|
|
NM_019109.5(ALG1):c.1275A>C (p.Ser425=)
|
rs746944961
|
0.00003
|
|
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)
|
rs764363207
|
0.00002
|
|
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)
|
rs765599429
|
0.00002
|
|
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)
|
rs3204229
|
0.00002
|
|
NM_019109.5(ALG1):c.1264-11T>G
|
rs1047764
|
0.00001
|
|
NM_019109.5(ALG1):c.1264-4G>C
|
rs758181814
|
0.00001
|
|
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)
|
rs1413293071
|
0.00001
|
|
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)
|
rs1047714
|
0.00001
|
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
|
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)
|
rs1281758881
|
0.00001
|
|
NM_019109.5(ALG1):c.1360G>A (p.Val454Met)
|
rs1957095896
|
0.00001
|
|
NM_019109.5(ALG1):c.1374C>T (p.Leu458=)
|
rs776869363
|
0.00001
|
|
NC_000016.10:g.(?_5080946)_(5097739_?)del
|
|
|
|
NC_000016.9:g.(?_5121851)_(5134882_?)del
|
|
|
|
NC_000016.9:g.(?_5125369)_(5134882_?)del
|
|
|
|
NC_000016.9:g.(?_5127426)_(5134882_?)del
|
|
|
|
NC_000016.9:g.(?_5132540)_(5134882_?)del
|
|
|
|
NC_000016.9:g.(?_5132540)_(5134882_?)dup
|
|
|
|
NC_000016.9:g.(?_5133663)_(5134882_?)del
|
|
|
|
NC_000016.9:g.(?_5134731)_(5134882_?)dup
|
|
|
|
NM_019109.5(ALG1):c.1264-10T>G
|
|
|
|
NM_019109.5(ALG1):c.1264-12A>T
|
|
|
|
NM_019109.5(ALG1):c.1264-12_1264-6del
|
|
|
|
NM_019109.5(ALG1):c.1264-16C>G
|
|
|
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NM_019109.5(ALG1):c.1264-17T>A
|
|
|
|
NM_019109.5(ALG1):c.1264-17del
|
|
|
|
NM_019109.5(ALG1):c.1264-18C>G
|
rs2142732074
|
|
|
NM_019109.5(ALG1):c.1264-2A>G
|
|
|
|
NM_019109.5(ALG1):c.1264-3C>T
|
rs780078713
|
|
|
NM_019109.5(ALG1):c.1264-5del
|
rs1381360907
|
|
|
NM_019109.5(ALG1):c.1264-5dup
|
|
|
|
NM_019109.5(ALG1):c.1264-9T>A
|
rs3187779
|
|
|
NM_019109.5(ALG1):c.1265T>C (p.Met422Thr)
|
|
|
|
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
|
|
|
|
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)
|
rs1957090242
|
|
|
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)
|
rs2142732373
|
|
|
NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr)
|
|
|
|
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)
|
rs370439294
|
|
|
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
|
|
|
|
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)
|
rs1261895166
|
|
|
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
|
|
|
|
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
|
|
|
|
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
|
|
|
|
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)
|
rs758197753
|
|
|
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
|
|
|
|
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)
|
rs540792178
|
|
|
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
|
|
|
|
NM_019109.5(ALG1):c.1332G>A (p.Ser444=)
|
rs554183734
|
|
|
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
|
|
|
|
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
|
|
|
|
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)
|
rs1047747
|
|
|
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
|
|
|
|
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
|
|
|
|
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)
|
rs144047909
|
|
|
NM_019109.5(ALG1):c.1348G>A (p.Asp450Asn)
|
|
|
|
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
|
|
|
|
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
|
|
|
|
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
|
|
|
|
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
|
|
|
|
NM_019109.5(ALG1):c.1368T>A (p.Thr456=)
|
rs1455567093
|
|
|
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
|
|
|
|
NM_019109.5(ALG1):c.1371G>A (p.Val457=)
|
|
|
|
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
|
|
|
|
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)
|
rs1957097146
|
|
|
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
|
|
|
|
NM_201400.4(EEF2KMT):c.*1074C>T
|
rs1957081691
|
|