|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
|
NM_000152.5(GAA):c.1327-58_1352del
|
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
|
NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)
|
|
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
|
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
|
NM_000152.5(GAA):c.1621_1622del (p.Pro541fs)
|
|
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
|
NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter)
|
|
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
|
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)
|
rs112517802
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
|
NM_000152.5(GAA):c.1846del (p.Asp616fs)
|
rs1249187013
|
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
|
NM_000152.5(GAA):c.1930del (p.Ala644fs)
|
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
|
NM_000152.5(GAA):c.1996dup (p.Ala666fs)
|
|
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
|
NM_000152.5(GAA):c.2331+2_2331+3del
|
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
|
NM_000152.5(GAA):c.2483del
|
|
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
|
NM_000152.5(GAA):c.2812del (p.Cys938fs)
|
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
|
NM_000152.5(GAA):c.546+1G>T
|
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
|
NM_000152.5(GAA):c.955+1del
|
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
|
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)
|
rs2058522120
|
|
|
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter)
|
rs1271031981
|
|
|
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
|
|
|
|
NM_002294.3(LAMP2):c.614_615del (p.Val205fs)
|
rs2058605108
|
|