NM_030943.4(AMN):c.1170-37C>G
|
rs148815688
|
0.29891
|
NM_030943.4(AMN):c.363G>A (p.Gly121=)
|
rs141455061
|
0.00632
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_030943.4(AMN):c.324C>T (p.Asp108=)
|
rs7140429
|
0.00514
|
NM_030943.4(AMN):c.165G>A (p.Met55Ile)
|
rs61731158
|
0.00505
|
NM_030943.4(AMN):c.829A>G (p.Thr277Ala)
|
rs146499374
|
0.00428
|
NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_030943.4(AMN):c.843+12G>A
|
rs140902778
|
0.00278
|
NM_030943.4(AMN):c.843+11C>T
|
rs369361298
|
0.00210
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_030943.4(AMN):c.57G>T (p.Ala19=)
|
rs145328398
|
0.00118
|
NM_030943.4(AMN):c.1169+11C>G
|
rs764673271
|
0.00115
|
NM_030943.4(AMN):c.844-3C>T
|
rs145519816
|
0.00088
|
NM_030943.4(AMN):c.275C>T (p.Ser92Leu)
|
rs144707331
|
0.00079
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
|
rs370794142
|
0.00053
|
NM_030943.4(AMN):c.63C>T (p.Ser21=)
|
rs150802428
|
0.00051
|
NM_030943.4(AMN):c.928G>A (p.Val310Met)
|
rs201788173
|
0.00043
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
NM_030943.4(AMN):c.321T>C (p.Ser107=)
|
rs563004567
|
0.00034
|
NM_030943.4(AMN):c.651+3G>T
|
rs751723677
|
0.00034
|
NM_030943.4(AMN):c.909C>T (p.Ala303=)
|
rs373382273
|
0.00031
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu)
|
rs777560818
|
0.00016
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
NM_030943.4(AMN):c.93C>T (p.Asp31=)
|
rs772599857
|
0.00011
|
NM_030943.4(AMN):c.1123G>C (p.Val375Leu)
|
rs759831593
|
0.00009
|
NM_030943.4(AMN):c.345G>A (p.Pro115=)
|
rs749947054
|
0.00009
|
NM_030943.4(AMN):c.1258-8C>T
|
rs750073599
|
0.00008
|
NM_030943.4(AMN):c.197T>C (p.Val66Ala)
|
rs371713937
|
0.00007
|
NM_030943.4(AMN):c.841C>T (p.Leu281=)
|
rs569327877
|
0.00007
|
NM_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
0.00006
|
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
|
rs200712130
|
0.00006
|
NM_030943.4(AMN):c.175C>T (p.Leu59=)
|
rs199629027
|
0.00005
|
NM_030943.4(AMN):c.400C>G (p.Arg134Gly)
|
rs758317090
|
0.00005
|
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser)
|
rs1345352857
|
0.00004
|
NM_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
NM_030943.4(AMN):c.123C>G (p.Thr41=)
|
rs758005290
|
0.00004
|
NM_030943.4(AMN):c.500C>T (p.Ser167Leu)
|
rs774698023
|
0.00004
|
NM_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
0.00003
|
NM_030943.4(AMN):c.448T>C (p.Phe150Leu)
|
rs1039668619
|
0.00003
|
NM_030943.4(AMN):c.811C>T (p.Arg271Trp)
|
rs765147150
|
0.00003
|
NM_030943.4(AMN):c.110G>A (p.Ser37Asn)
|
rs200648108
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_030943.4(AMN):c.532G>A (p.Asp178Asn)
|
rs575761625
|
0.00002
|
NM_030943.4(AMN):c.108G>C (p.Trp36Cys)
|
rs199835580
|
0.00001
|
NM_030943.4(AMN):c.1200T>C (p.Ala400=)
|
rs1410658337
|
0.00001
|
NM_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
NM_030943.4(AMN):c.207+9G>A
|
rs765056352
|
0.00001
|
NM_030943.4(AMN):c.296-10T>C
|
rs1229295738
|
0.00001
|
NM_030943.4(AMN):c.296-3C>T
|
rs764763091
|
0.00001
|
NM_030943.4(AMN):c.356G>T (p.Arg119Leu)
|
rs533436439
|
0.00001
|
NM_030943.4(AMN):c.492C>G (p.Arg164=)
|
rs1388154450
|
0.00001
|
NM_030943.4(AMN):c.760+10C>T
|
rs1312771036
|
0.00001
|
NM_030943.4(AMN):c.790G>A (p.Ala264Thr)
|
rs1450455717
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NC_000014.8:g.(?_103389228)_(103394842_?)del
|
|
|
NM_030943.4(AMN):c.105C>T (p.Asn35=)
|
|
|
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
|
|
|
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
|
|
|
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
|
|
|
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
|
|
|
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
|
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
|
|
|
NM_030943.4(AMN):c.1169+10G>A
|
|
|
NM_030943.4(AMN):c.1169+14G>A
|
|
|
NM_030943.4(AMN):c.1169+16G>T
|
|
|
NM_030943.4(AMN):c.1169+17_1169+36del
|
|
|
NM_030943.4(AMN):c.1169+19C>T
|
|
|
NM_030943.4(AMN):c.1169+2T>C
|
|
|
NM_030943.4(AMN):c.1170-10A>G
|
|
|
NM_030943.4(AMN):c.1170-12C>T
|
|
|
NM_030943.4(AMN):c.1170-14C>T
|
|
|
NM_030943.4(AMN):c.1170-16C>T
|
|
|
NM_030943.4(AMN):c.1170-17C>T
|
|
|
NM_030943.4(AMN):c.1170-1G>C
|
|
|
NM_030943.4(AMN):c.1170-7C>A
|
|
|
NM_030943.4(AMN):c.1170-7C>T
|
|
|
NM_030943.4(AMN):c.1170-8G>A
|
|
|
NM_030943.4(AMN):c.1170-8G>C
|
|
|
NM_030943.4(AMN):c.1170-9C>T
|
|
|
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
|
|
|
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
|
|
|
NM_030943.4(AMN):c.1182C>T (p.His394=)
|
|
|
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
|
|
|
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
|
|
|
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
|
|
|
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
|
|
|
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
|
|
|
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
|
|
|
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
|
|
|
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
|
|
|
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
|
|
|
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
|
|
|
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
|
|
|
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
|
|
|
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
|
|
|
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
|
|
|
NM_030943.4(AMN):c.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
|
|
|
NM_030943.4(AMN):c.1257+10C>A
|
|
|
NM_030943.4(AMN):c.1257+15G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>C
|
|
|
NM_030943.4(AMN):c.1257+17G>A
|
|
|
NM_030943.4(AMN):c.1257+18G>A
|
|
|
NM_030943.4(AMN):c.1257+19G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>C
|
|
|
NM_030943.4(AMN):c.1257+20del
|
|
|
NM_030943.4(AMN):c.1257+20dup
|
rs759269975
|
|
NM_030943.4(AMN):c.1257+7G>T
|
|
|
NM_030943.4(AMN):c.1257+9del
|
|
|
NM_030943.4(AMN):c.1257+9dup
|
|
|
NM_030943.4(AMN):c.1257G>A (p.Leu419=)
|
rs2139313588
|
|
NM_030943.4(AMN):c.1258-14C>T
|
|
|
NM_030943.4(AMN):c.1258-15C>A
|
|
|
NM_030943.4(AMN):c.1258-15C>T
|
|
|
NM_030943.4(AMN):c.1258-4G>C
|
|
|
NM_030943.4(AMN):c.1258-5C>T
|
|
|
NM_030943.4(AMN):c.1258-8C>A
|
|
|
NM_030943.4(AMN):c.1258-9A>C
|
|
|
NM_030943.4(AMN):c.126G>A (p.Pro42=)
|
|
|
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
|
|
|
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
|
|
|
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
|
|
|
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
|
|
|
NM_030943.4(AMN):c.1287G>C (p.Pro429=)
|
rs2139314090
|
|
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
|
|
|
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
|
|
|
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
|
|
|
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
|
|
|
NM_030943.4(AMN):c.129C>T (p.Cys43=)
|
|
|
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs)
|
rs2139314176
|
|
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
|
|
|
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
|
|
|
NM_030943.4(AMN):c.1314C>T (p.His438=)
|
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
|
|
|
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
|
|
|
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser)
|
rs1354241478
|
|
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
|
|
|
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
|
|
|
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)
|
rs36040113
|
|
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
|
|
|
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3])
|
rs763564473
|
|
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
|
|
|
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
|
|
|
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
|
|
|
NM_030943.4(AMN):c.135C>T (p.Gly45=)
|
|
|
NM_030943.4(AMN):c.138_162+20del
|
|
|
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
|
|
|
NM_030943.4(AMN):c.141C>G (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.141C>T (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
|
rs772475317
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.153G>A (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>C (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>T (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.156G>A (p.Ala52=)
|
|
|
NM_030943.4(AMN):c.162+12C>G
|
|
|
NM_030943.4(AMN):c.162+12C>T
|
|
|
NM_030943.4(AMN):c.162+13G>A
|
|
|
NM_030943.4(AMN):c.162+15C>T
|
|
|
NM_030943.4(AMN):c.162+19G>A
|
|
|
NM_030943.4(AMN):c.162+8G>A
|
|
|
NM_030943.4(AMN):c.163-11T>C
|
|
|
NM_030943.4(AMN):c.163-13C>A
|
|
|
NM_030943.4(AMN):c.163-16C>T
|
|
|
NM_030943.4(AMN):c.163-20G>A
|
|
|
NM_030943.4(AMN):c.163-3C>T
|
|
|
NM_030943.4(AMN):c.163-6C>T
|
|
|
NM_030943.4(AMN):c.163-7C>T
|
|
|
NM_030943.4(AMN):c.168G>A (p.Val56=)
|
|
|
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
|
|
|
NM_030943.4(AMN):c.177G>A (p.Leu59=)
|
|
|
NM_030943.4(AMN):c.180G>C (p.Val60=)
|
|
|
NM_030943.4(AMN):c.192C>T (p.His64=)
|
|
|
NM_030943.4(AMN):c.195C>T (p.Ala65=)
|
|
|
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
|
|
|
NM_030943.4(AMN):c.206T>A (p.Met69Lys)
|
rs375774640
|
|
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
|
|
|
NM_030943.4(AMN):c.207+11G>A
|
|
|
NM_030943.4(AMN):c.207+11G>C
|
|
|
NM_030943.4(AMN):c.207+12C>A
|
|
|
NM_030943.4(AMN):c.207+13T>C
|
|
|
NM_030943.4(AMN):c.207+14G>T
|
|
|
NM_030943.4(AMN):c.207+17A>C
|
|
|
NM_030943.4(AMN):c.207+1G>A
|
|
|
NM_030943.4(AMN):c.207+8C>T
|
|
|
NM_030943.4(AMN):c.21C>A (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.21C>T (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.24G>T (p.Leu8=)
|
|
|
NM_030943.4(AMN):c.276G>C (p.Ser92=)
|
|
|
NM_030943.4(AMN):c.280C>T (p.Leu94=)
|
|
|
NM_030943.4(AMN):c.282G>A (p.Leu94=)
|
|
|
NM_030943.4(AMN):c.294G>A (p.Ala98=)
|
|
|
NM_030943.4(AMN):c.295+11C>T
|
|
|
NM_030943.4(AMN):c.295+15C>T
|
|
|
NM_030943.4(AMN):c.295+17G>A
|
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.295+20G>A
|
|
|
NM_030943.4(AMN):c.295+7C>G
|
|
|
NM_030943.4(AMN):c.295+7C>T
|
|
|
NM_030943.4(AMN):c.295+8G>A
|
|
|
NM_030943.4(AMN):c.295+9G>A
|
|
|
NM_030943.4(AMN):c.296-11C>T
|
|
|
NM_030943.4(AMN):c.296-16A>T
|
|
|
NM_030943.4(AMN):c.296-1G>A
|
|
|
NM_030943.4(AMN):c.296-6del
|
|
|
NM_030943.4(AMN):c.296-9C>G
|
|
|
NM_030943.4(AMN):c.296-9C>T
|
rs373204347
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_030943.4(AMN):c.306C>A (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.306C>T (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
|
|
|
NM_030943.4(AMN):c.333C>T (p.Ser111=)
|
|
|
NM_030943.4(AMN):c.349C>T (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
|
|
|
NM_030943.4(AMN):c.351G>C (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.357C>T (p.Arg119=)
|
|
|
NM_030943.4(AMN):c.35del (p.Gln12fs)
|
rs769770182
|
|
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
|
|
|
NM_030943.4(AMN):c.375T>C (p.Pro125=)
|
|
|
NM_030943.4(AMN):c.378C>T (p.Gly126=)
|
|
|
NM_030943.4(AMN):c.381C>G (p.Leu127=)
|
|
|
NM_030943.4(AMN):c.384C>T (p.Phe128=)
|
|
|
NM_030943.4(AMN):c.387C>T (p.Phe129=)
|
|
|
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
|
|
|
NM_030943.4(AMN):c.396C>T (p.Ala132=)
|
|
|
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
|
|
|
NM_030943.4(AMN):c.414C>T (p.Arg138=)
|
|
|
NM_030943.4(AMN):c.423C>T (p.Asp141=)
|
rs2139309288
|
|
NM_030943.4(AMN):c.429C>T (p.Phe143=)
|
|
|
NM_030943.4(AMN):c.43+10G>A
|
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|
NM_030943.4(AMN):c.43+11A>G
|
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|
NM_030943.4(AMN):c.43+15C>T
|
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|
NM_030943.4(AMN):c.43+16A>G
|
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|
NM_030943.4(AMN):c.43+17C>G
|
|
|
NM_030943.4(AMN):c.43+17C>T
|
|
|
NM_030943.4(AMN):c.43+17_43+37del
|
|
|
NM_030943.4(AMN):c.43+18C>T
|
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.43+7C>T
|
|
|
NM_030943.4(AMN):c.43+8G>A
|
rs1891084049
|
|
NM_030943.4(AMN):c.43+9G>A
|
|
|
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
|
|
|
NM_030943.4(AMN):c.44-15T>C
|
|
|
NM_030943.4(AMN):c.44-1G>A
|
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|
NM_030943.4(AMN):c.44-20C>T
|
|
|
NM_030943.4(AMN):c.44-2A>T
|
|
|
NM_030943.4(AMN):c.44-4C>T
|
|
|
NM_030943.4(AMN):c.44-6C>T
|
|
|
NM_030943.4(AMN):c.44-7_44-5del
|
rs774101952
|
|
NM_030943.4(AMN):c.44-9C>G
|
|
|
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
|
|
|
NM_030943.4(AMN):c.441T>C (p.Ser147=)
|
|
|
NM_030943.4(AMN):c.454G>A (p.Val152Met)
|
|
|
NM_030943.4(AMN):c.456G>A (p.Val152=)
|
|
|
NM_030943.4(AMN):c.459G>C (p.Gly153=)
|
rs1286684210
|
|
NM_030943.4(AMN):c.462C>T (p.Leu154=)
|
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.46C>T (p.Leu16=)
|
|
|
NM_030943.4(AMN):c.480C>A (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.480C>T (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
|
|
|
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
|
|
|
NM_030943.4(AMN):c.493dup (p.Ser165fs)
|
|
|
NM_030943.4(AMN):c.504T>A (p.Ala168=)
|
|
|
NM_030943.4(AMN):c.510C>A (p.Gly170=)
|
|
|
NM_030943.4(AMN):c.513+14G>A
|
|
|
NM_030943.4(AMN):c.513+16A>C
|
|
|
NM_030943.4(AMN):c.513+19del
|
|
|
NM_030943.4(AMN):c.513+2T>C
|
|
|
NM_030943.4(AMN):c.513+2del
|
|
|
NM_030943.4(AMN):c.513+8C>G
|
|
|
NM_030943.4(AMN):c.513+8C>T
|
rs764938272
|
|
NM_030943.4(AMN):c.514-15C>A
|
|
|
NM_030943.4(AMN):c.514-15C>T
|
|
|
NM_030943.4(AMN):c.514-19G>A
|
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.514-34G>C
|
rs144077391
|
|
NM_030943.4(AMN):c.514-4G>C
|
|
|
NM_030943.4(AMN):c.514-4G>T
|
|
|
NM_030943.4(AMN):c.514-7C>T
|
|
|
NM_030943.4(AMN):c.516G>C (p.Thr172=)
|
|
|
NM_030943.4(AMN):c.522G>A (p.Thr174=)
|
|
|
NM_030943.4(AMN):c.525C>T (p.Arg175=)
|
|
|
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
|
|
|
NM_030943.4(AMN):c.545del (p.Phe182fs)
|
|
|
NM_030943.4(AMN):c.555C>T (p.Ser185=)
|
|
|
NM_030943.4(AMN):c.558C>T (p.Arg186=)
|
|
|
NM_030943.4(AMN):c.561G>A (p.Ala187=)
|
|
|
NM_030943.4(AMN):c.56C>T (p.Ala19Val)
|
rs979571435
|
|
NM_030943.4(AMN):c.579C>T (p.His193=)
|
|
|
NM_030943.4(AMN):c.57G>A (p.Ala19=)
|
rs145328398
|
|
NM_030943.4(AMN):c.582G>T (p.Gly194=)
|
|
|
NM_030943.4(AMN):c.587del (p.Gly196fs)
|
|
|
NM_030943.4(AMN):c.58del (p.Val20fs)
|
|
|
NM_030943.4(AMN):c.591G>T (p.Ala197=)
|
|
|
NM_030943.4(AMN):c.597C>T (p.Ser199=)
|
|
|
NM_030943.4(AMN):c.600G>A (p.Val200=)
|
|
|
NM_030943.4(AMN):c.603C>T (p.Gly201=)
|
|
|
NM_030943.4(AMN):c.618G>A (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.618G>C (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.627G>A (p.Ser209=)
|
|
|
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
|
|
|
NM_030943.4(AMN):c.630C>T (p.Gly210=)
|
|
|
NM_030943.4(AMN):c.633C>T (p.Cys211=)
|
|
|
NM_030943.4(AMN):c.651+10G>A
|
|
|
NM_030943.4(AMN):c.651+12C>A
|
|
|
NM_030943.4(AMN):c.651+13G>T
|
|
|
NM_030943.4(AMN):c.651+15A>C
|
|
|
NM_030943.4(AMN):c.651+16G>T
|
|
|
NM_030943.4(AMN):c.651+1G>T
|
|
|
NM_030943.4(AMN):c.651+9G>A
|
|
|
NM_030943.4(AMN):c.652-10C>T
|
|
|
NM_030943.4(AMN):c.652-12C>T
|
|
|
NM_030943.4(AMN):c.652-14G>A
|
|
|
NM_030943.4(AMN):c.652-14G>T
|
rs949145775
|
|
NM_030943.4(AMN):c.652-20A>G
|
|
|
NM_030943.4(AMN):c.652-2A>G
|
|
|
NM_030943.4(AMN):c.652-4C>T
|
|
|
NM_030943.4(AMN):c.660G>A (p.Pro220=)
|
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
|
|
|
NM_030943.4(AMN):c.672G>A (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.672G>T (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.678G>A (p.Leu226=)
|
|
|
NM_030943.4(AMN):c.682C>G (p.Gln228Glu)
|
rs1163522093
|
|
NM_030943.4(AMN):c.682C>T (p.Gln228Ter)
|
|
|
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
|
|
|
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)
|
rs386834175
|
|
NM_030943.4(AMN):c.687C>T (p.Pro229=)
|
|
|
NM_030943.4(AMN):c.690G>A (p.Leu230=)
|
|
|
NM_030943.4(AMN):c.693C>T (p.Gly231=)
|
|
|
NM_030943.4(AMN):c.701G>T (p.Cys234Phe)
|
rs386834176
|
|
NM_030943.4(AMN):c.702C>T (p.Cys234=)
|
|
|
NM_030943.4(AMN):c.705C>A (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.705C>G (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.711C>T (p.Ala237=)
|
|
|
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
|
|
|
NM_030943.4(AMN):c.723C>T (p.Ser241=)
|
|
|
NM_030943.4(AMN):c.732G>A (p.Arg244=)
|
|
|
NM_030943.4(AMN):c.73del (p.Val25fs)
|
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_030943.4(AMN):c.753C>T (p.Asp251=)
|
|
|
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
|
|
|
NM_030943.4(AMN):c.756C>A (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.756C>T (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.75C>A (p.Val25=)
|
|
|
NM_030943.4(AMN):c.75C>T (p.Val25=)
|
|
|
NM_030943.4(AMN):c.760+12C>T
|
|
|
NM_030943.4(AMN):c.760+15C>T
|
|
|
NM_030943.4(AMN):c.760+16G>A
|
|
|
NM_030943.4(AMN):c.760+18G>A
|
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_030943.4(AMN):c.760+8C>T
|
|
|
NM_030943.4(AMN):c.760+9C>T
|
|
|
NM_030943.4(AMN):c.761-14C>T
|
|
|
NM_030943.4(AMN):c.761-20C>A
|
|
|
NM_030943.4(AMN):c.761-20C>T
|
|
|
NM_030943.4(AMN):c.761-4G>A
|
|
|
NM_030943.4(AMN):c.761-8C>G
|
|
|
NM_030943.4(AMN):c.761-9C>A
|
|
|
NM_030943.4(AMN):c.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.762A>G (p.Gly254=)
|
|
|
NM_030943.4(AMN):c.775C>T (p.Leu259=)
|
|
|
NM_030943.4(AMN):c.780C>A (p.Thr260=)
|
|
|
NM_030943.4(AMN):c.783C>T (p.His261=)
|
|
|
NM_030943.4(AMN):c.789C>T (p.Pro263=)
|
|
|
NM_030943.4(AMN):c.78del (p.Asn27fs)
|
|
|
NM_030943.4(AMN):c.791dup (p.Phe265fs)
|
rs2139311251
|
|
NM_030943.4(AMN):c.798C>T (p.Asp266=)
|
|
|
NM_030943.4(AMN):c.801G>C (p.Leu267=)
|
rs1163660664
|
|
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
|
|
|
NM_030943.4(AMN):c.816G>A (p.Ala272=)
|
|
|
NM_030943.4(AMN):c.81C>T (p.Asn27=)
|
|
|
NM_030943.4(AMN):c.831C>T (p.Thr277=)
|
|
|
NM_030943.4(AMN):c.843+10C>A
|
|
|
NM_030943.4(AMN):c.843+11del
|
rs1467152225
|
|
NM_030943.4(AMN):c.843+13C>G
|
|
|
NM_030943.4(AMN):c.843+13C>T
|
|
|
NM_030943.4(AMN):c.843+14G>A
|
|
|
NM_030943.4(AMN):c.843+15C>T
|
|
|
NM_030943.4(AMN):c.843+20A>G
|
|
|
NM_030943.4(AMN):c.843+7G>A
|
|
|
NM_030943.4(AMN):c.844-11C>T
|
|
|
NM_030943.4(AMN):c.844-13T>A
|
|
|
NM_030943.4(AMN):c.844-15C>T
|
|
|
NM_030943.4(AMN):c.844-17C>G
|
|
|
NM_030943.4(AMN):c.844-17C>T
|
|
|
NM_030943.4(AMN):c.844-18C>A
|
|
|
NM_030943.4(AMN):c.855C>G (p.His285Gln)
|
|
|
NM_030943.4(AMN):c.855C>T (p.His285=)
|
|
|
NM_030943.4(AMN):c.861G>C (p.Leu287=)
|
|
|
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
|
|
|
NM_030943.4(AMN):c.864G>T (p.Gln288His)
|
|
|
NM_030943.4(AMN):c.870C>T (p.Ala290=)
|
|
|
NM_030943.4(AMN):c.873_874dup (p.Ser292fs)
|
rs2139311797
|
|
NM_030943.4(AMN):c.888C>G (p.Arg296=)
|
|
|
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
|
|
|
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
|
|
|
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
|
|
|
NM_030943.4(AMN):c.915G>A (p.Thr305=)
|
|
|
NM_030943.4(AMN):c.918G>A (p.Glu306=)
|
|
|
NM_030943.4(AMN):c.921C>T (p.Ile307=)
|
|
|
NM_030943.4(AMN):c.96C>T (p.Val32=)
|
|
|