NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922
|
0.00063
|
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=)
|
rs151323851
|
0.00056
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_001005373.4(LRSAM1):c.*121C>T
|
rs899262383
|
0.00053
|
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394
|
0.00045
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)
|
rs140151379
|
0.00039
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
|
rs760944483
|
0.00035
|
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)
|
rs369439346
|
0.00031
|
NM_001005373.4(LRSAM1):c.*350C>A
|
rs764119919
|
0.00030
|
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln)
|
rs143479340
|
0.00024
|
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)
|
rs150820300
|
0.00024
|
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys)
|
rs150062009
|
0.00021
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu)
|
rs142085060
|
0.00019
|
NM_001005373.4(LRSAM1):c.-199A>G
|
rs760403428
|
0.00018
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_001005373.4(LRSAM1):c.1088+1G>C
|
rs765641195
|
0.00014
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg)
|
rs372408222
|
0.00014
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)
|
rs200595164
|
0.00011
|
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)
|
rs376468970
|
0.00011
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001005373.4(LRSAM1):c.*588T>A
|
rs886063461
|
0.00009
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu)
|
rs138830549
|
0.00009
|
NM_001005373.4(LRSAM1):c.*370C>T
|
rs370358510
|
0.00008
|
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys)
|
rs150882646
|
0.00008
|
NM_001005373.4(LRSAM1):c.*238G>A
|
rs886063459
|
0.00006
|
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn)
|
rs551183702
|
0.00006
|
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser)
|
rs142958539
|
0.00006
|
NM_001005373.4(LRSAM1):c.1422+6C>T
|
rs745690669
|
0.00006
|
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met)
|
rs773505699
|
0.00006
|
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)
|
rs555377969
|
0.00006
|
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp)
|
rs376566243
|
0.00006
|
NM_001005373.4(LRSAM1):c.-189+47C>T
|
rs886063450
|
0.00005
|
NM_001005373.4(LRSAM1):c.1347+5G>A
|
rs368570954
|
0.00005
|
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp)
|
rs772793971
|
0.00005
|
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr)
|
rs542497718
|
0.00005
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp)
|
rs767583106
|
0.00005
|
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln)
|
rs762000052
|
0.00004
|
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
|
rs763390117
|
0.00004
|
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln)
|
rs369596799
|
0.00004
|
NM_001005373.4(LRSAM1):c.1280G>A (p.Arg427Gln)
|
rs200963472
|
0.00004
|
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu)
|
rs546739304
|
0.00004
|
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu)
|
rs146106537
|
0.00004
|
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp)
|
rs140467743
|
0.00004
|
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys)
|
rs768302528
|
0.00004
|
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His)
|
rs537838691
|
0.00004
|
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile)
|
rs746831085
|
0.00004
|
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly)
|
rs574202204
|
0.00004
|
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met)
|
rs369161790
|
0.00004
|
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys)
|
rs368202093
|
0.00004
|
NM_001005373.4(LRSAM1):c.252+3A>G
|
rs764331245
|
0.00004
|
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile)
|
rs772202137
|
0.00004
|
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln)
|
rs368646898
|
0.00004
|
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val)
|
rs1039329590
|
0.00004
|
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile)
|
rs529333601
|
0.00004
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00004
|
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln)
|
rs145881988
|
0.00004
|
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)
|
rs775480266
|
0.00004
|
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val)
|
rs751593173
|
0.00003
|
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe)
|
rs749192098
|
0.00003
|
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile)
|
rs879254326
|
0.00003
|
NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile)
|
rs765956865
|
0.00003
|
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=)
|
rs771510127
|
0.00003
|
NM_001005373.4(LRSAM1):c.*356G>A
|
rs1394418871
|
0.00002
|
NM_001005373.4(LRSAM1):c.*597T>G
|
rs751523580
|
0.00002
|
NM_001005373.4(LRSAM1):c.1043+5G>A
|
rs780868977
|
0.00002
|
NM_001005373.4(LRSAM1):c.1058C>G (p.Ser353Cys)
|
rs748144981
|
0.00002
|
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln)
|
rs145877456
|
0.00002
|
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys)
|
rs1006024672
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr)
|
rs138715791
|
0.00002
|
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe)
|
rs751314768
|
0.00002
|
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln)
|
rs758290295
|
0.00002
|
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys)
|
rs1359751742
|
0.00002
|
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys)
|
rs770758847
|
0.00002
|
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala)
|
rs748185533
|
0.00002
|
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)
|
rs746213887
|
0.00002
|
NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln)
|
rs777784051
|
0.00002
|
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys)
|
rs772739566
|
0.00002
|
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)
|
rs770259167
|
0.00002
|
NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His)
|
rs776039231
|
0.00002
|
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln)
|
rs778692919
|
0.00002
|
NM_001005373.4(LRSAM1):c.698A>C (p.Asp233Ala)
|
rs747872731
|
0.00002
|
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp)
|
rs766288153
|
0.00002
|
NM_001005373.4(LRSAM1):c.904-4del
|
rs757987823
|
0.00002
|
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln)
|
rs201329646
|
0.00002
|
NM_001005373.4(LRSAM1):c.955G>A (p.Ala319Thr)
|
rs756492485
|
0.00002
|
NM_001005373.4(LRSAM1):c.-127C>A
|
rs1834340914
|
0.00001
|
NM_001005373.4(LRSAM1):c.-188-121A>G
|
rs886063453
|
0.00001
|
NM_001005373.4(LRSAM1):c.-189+127A>G
|
rs1434818116
|
0.00001
|
NM_001005373.4(LRSAM1):c.-78C>T
|
rs886063454
|
0.00001
|
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
|
rs886063456
|
0.00001
|
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser)
|
rs1188237904
|
0.00001
|
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys)
|
rs773122117
|
0.00001
|
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu)
|
rs886063457
|
0.00001
|
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg)
|
rs1466479388
|
0.00001
|
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys)
|
rs1381062773
|
0.00001
|
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu)
|
rs776814240
|
0.00001
|
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr)
|
rs377079293
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr)
|
rs758094270
|
0.00001
|
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu)
|
rs1258411555
|
0.00001
|
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)
|
rs749575647
|
0.00001
|
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro)
|
rs762731732
|
0.00001
|
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys)
|
rs767351229
|
0.00001
|
NM_001005373.4(LRSAM1):c.1347+3G>T
|
rs375937623
|
0.00001
|
NM_001005373.4(LRSAM1):c.1348-6T>A
|
rs200130803
|
0.00001
|
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr)
|
rs765226810
|
0.00001
|
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro)
|
rs369939320
|
0.00001
|
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys)
|
rs375737634
|
0.00001
|
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His)
|
rs1835983507
|
0.00001
|
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu)
|
rs1468375975
|
0.00001
|
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln)
|
rs760321710
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=)
|
rs1316186546
|
0.00001
|
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile)
|
rs1400819662
|
0.00001
|
NM_001005373.4(LRSAM1):c.1694T>C (p.Leu565Pro)
|
rs1836091590
|
0.00001
|
NM_001005373.4(LRSAM1):c.1699-3C>T
|
rs756218616
|
0.00001
|
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln)
|
rs778740625
|
0.00001
|
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr)
|
rs201137230
|
0.00001
|
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser)
|
rs1203313855
|
0.00001
|
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile)
|
rs570688892
|
0.00001
|
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly)
|
rs375938990
|
0.00001
|
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln)
|
rs775743246
|
0.00001
|
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser)
|
rs1479286608
|
0.00001
|
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val)
|
rs777233045
|
0.00001
|
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala)
|
rs749204843
|
0.00001
|
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp)
|
rs773899723
|
0.00001
|
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=)
|
rs767249563
|
0.00001
|
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys)
|
rs942116544
|
0.00001
|
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg)
|
rs1341295542
|
0.00001
|
NM_001005373.4(LRSAM1):c.2122C>A (p.Leu708Met)
|
rs1836448549
|
0.00001
|
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His)
|
rs770106776
|
0.00001
|
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys)
|
rs772786050
|
0.00001
|
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His)
|
rs764890552
|
0.00001
|
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)
|
rs752596738
|
0.00001
|
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr)
|
rs1172570035
|
0.00001
|
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu)
|
rs746714138
|
0.00001
|
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys)
|
rs1231990557
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001005373.4(LRSAM1):c.306G>C (p.Gln102His)
|
rs1392534147
|
0.00001
|
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala)
|
rs1324443410
|
0.00001
|
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His)
|
rs1392820291
|
0.00001
|
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln)
|
rs200115008
|
0.00001
|
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His)
|
rs1255236822
|
0.00001
|
NM_001005373.4(LRSAM1):c.544G>A (p.Ala182Thr)
|
rs780636250
|
0.00001
|
NM_001005373.4(LRSAM1):c.551C>T (p.Ala184Val)
|
rs947752458
|
0.00001
|
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val)
|
rs542077582
|
0.00001
|
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu)
|
rs553074777
|
0.00001
|
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685
|
0.00001
|
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu)
|
rs769236666
|
0.00001
|
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp)
|
rs754527468
|
0.00001
|
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp)
|
rs548898578
|
0.00001
|
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys)
|
rs1414933191
|
0.00001
|
NM_001005373.4(LRSAM1):c.821T>C (p.Leu274Pro)
|
rs1160703093
|
0.00001
|
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser)
|
rs1564248714
|
0.00001
|
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met)
|
rs747368361
|
0.00001
|
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln)
|
rs776157689
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser)
|
rs1276292442
|
0.00001
|
NC_000009.11:g.(?_130216797)_(130224662_?)dup
|
|
|
NC_000009.11:g.(?_130216807)_(130265178_?)dup
|
|
|
NC_000009.11:g.(?_130221262)_(130224672_?)del
|
|
|
NC_000009.12:g.(?_127454518)_(127502909_?)dup
|
|
|
NC_000009.12:g.(?_127461163)_(127473941_?)del
|
|
|
NC_000009.12:g.(?_127502774)_(127503501_?)del
|
|
|
NM_001005373.4(LRSAM1):c.*392G>T
|
rs1371405396
|
|
NM_001005373.4(LRSAM1):c.*501C>T
|
rs886063460
|
|
NM_001005373.4(LRSAM1):c.*552A>G
|
rs1836474069
|
|
NM_001005373.4(LRSAM1):c.-189+110G>A
|
rs886063451
|
|
NM_001005373.4(LRSAM1):c.-189+120_-189+122del
|
rs749626964
|
|
NM_001005373.4(LRSAM1):c.-35C>T
|
rs989000729
|
|
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
|
|
|
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1035C>G (p.Asp345Glu)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)
|
rs1588121150
|
|
NM_001005373.4(LRSAM1):c.1043+1G>A
|
rs373571535
|
|
NM_001005373.4(LRSAM1):c.1044-7T>A
|
|
|
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile)
|
rs915109407
|
|
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
|
|
|
NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)
|
|
|
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His)
|
rs1835524755
|
|
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser)
|
rs1835524861
|
|
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr)
|
rs1588123900
|
|
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
|
|
|
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
|
|
|
NM_001005373.4(LRSAM1):c.1159+3G>A
|
|
|
NM_001005373.4(LRSAM1):c.1159+5G>A
|
|
|
NM_001005373.4(LRSAM1):c.1165A>C (p.Met389Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1183G>A (p.Glu395Lys)
|
rs2132080972
|
|
NM_001005373.4(LRSAM1):c.119del (p.Glu40fs)
|
rs1588090984
|
|
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_001005373.4(LRSAM1):c.121C>G (p.Leu41Val)
|
rs1834465235
|
|
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys)
|
rs186139632
|
|
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val)
|
rs1835780785
|
|
NM_001005373.4(LRSAM1):c.1262T>A (p.Met421Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser)
|
rs372452916
|
|
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val)
|
rs750243357
|
|
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1286A>C (p.Gln429Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1291A>T (p.Ile431Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1312G>A (p.Asp438Asn)
|
|
|
NM_001005373.4(LRSAM1):c.1324G>A (p.Ala442Thr)
|
|
|
NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)
|
|
|
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg)
|
rs1299926632
|
|
NM_001005373.4(LRSAM1):c.1347+6C>T
|
rs1588128875
|
|
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
|
|
|
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val)
|
rs1299851938
|
|
NM_001005373.4(LRSAM1):c.1372G>A (p.Glu458Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
|
|
|
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu)
|
rs201473713
|
|
NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1416G>C (p.Arg472Ser)
|
rs2132092071
|
|
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs1345645228
|
|
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser)
|
rs1835920830
|
|
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser)
|
rs942509436
|
|
NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)
|
|
|
NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1503+4T>C
|
|
|
NM_001005373.4(LRSAM1):c.1503+6T>C
|
rs2132098269
|
|
NM_001005373.4(LRSAM1):c.1504-14G>A
|
|
|
NM_001005373.4(LRSAM1):c.1504-2A>G
|
rs1064797013
|
|
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe)
|
rs1472578658
|
|
NM_001005373.4(LRSAM1):c.1526G>C (p.Trp509Ser)
|
|
|
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro)
|
rs748161826
|
|
NM_001005373.4(LRSAM1):c.1579G>A (p.Glu527Lys)
|
|
|
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg)
|
rs754095363
|
|
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
|
|
|
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
|
|
|
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
|
|
|
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1696C>A (p.Gln566Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1698+6G>A
|
|
|
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)
|
rs1256215388
|
|
NM_001005373.4(LRSAM1):c.1705G>A (p.Gly569Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His)
|
rs1451403749
|
|
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro)
|
rs1836124813
|
|
NM_001005373.4(LRSAM1):c.1733T>C (p.Leu578Pro)
|
|
|
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg)
|
rs1235938569
|
|
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr)
|
rs1202628332
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001005373.4(LRSAM1):c.1750G>A (p.Glu584Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
|
|
|
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp)
|
rs1183629673
|
|
NM_001005373.4(LRSAM1):c.1756T>A (p.Tyr586Asn)
|
|
|
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala)
|
rs1834556433
|
|
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
|
rs1836128229
|
|
NM_001005373.4(LRSAM1):c.1775A>C (p.His592Pro)
|
rs1039132247
|
|
NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1775A>T (p.His592Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)
|
|
|
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His)
|
rs1462342285
|
|
NM_001005373.4(LRSAM1):c.1807A>G (p.Met603Val)
|
|
|
NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)
|
|
|
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr)
|
rs1480003668
|
|
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr)
|
rs1834556629
|
|
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met)
|
rs771783337
|
|
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
|
|
|
NM_001005373.4(LRSAM1):c.1861G>A (p.Glu621Lys)
|
|
|
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val)
|
rs1836186573
|
|
NM_001005373.4(LRSAM1):c.1865T>C (p.Ile622Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp)
|
rs375938990
|
|
NM_001005373.4(LRSAM1):c.1873A>G (p.Arg625Gly)
|
|
|
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg)
|
rs1836188217
|
|
NM_001005373.4(LRSAM1):c.1889_1894del (p.Leu630_Ala632delinsPro)
|
rs1564283769
|
|
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly)
|
rs1564283787
|
|
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC
|
rs1836189857
|
|
NM_001005373.4(LRSAM1):c.1915C>G (p.Leu639Val)
|
|
|
NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)
|
|
|
NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)
|
|
|
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
|
|
|
NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)
|
|
|
NM_001005373.4(LRSAM1):c.1927A>G (p.Met643Val)
|
|
|
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198
|
|
NM_001005373.4(LRSAM1):c.1936G>A (p.Val646Ile)
|
rs748358043
|
|
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe)
|
rs748358043
|
|
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
|
|
|
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser)
|
rs1291622809
|
|
NM_001005373.4(LRSAM1):c.1964C>T (p.Pro655Leu)
|
rs376913816
|
|
NM_001005373.4(LRSAM1):c.1981C>T (p.Pro661Ser)
|
|
|
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
|
|
|
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
|
|
|
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr)
|
rs148846371
|
|
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
|
|
|
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu)
|
rs1399738186
|
|
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)
|
rs1588143112
|
|
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
|
|
|
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)
|
rs1836372698
|
|
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
|
|
|
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)
|
|
|
NM_001005373.4(LRSAM1):c.2029_2046+7del
|
rs1836374325
|
|
NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
|
|
|
NM_001005373.4(LRSAM1):c.2033G>C (p.Cys678Ser)
|
rs2132128518
|
|
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro)
|
rs1564286814
|
|
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro)
|
rs143479340
|
|
NM_001005373.4(LRSAM1):c.2046+1G>A
|
|
|
NM_001005373.4(LRSAM1):c.2046+1G>T
|
rs1588143215
|
|
NM_001005373.4(LRSAM1):c.2046_2046+12del
|
rs2132128595
|
|
NM_001005373.4(LRSAM1):c.2047-1G>A
|
rs1564287793
|
|
NM_001005373.4(LRSAM1):c.2047-3C>T
|
rs1588144581
|
|
NM_001005373.4(LRSAM1):c.2047-4C>T
|
|
|
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val)
|
rs1836444367
|
|
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser)
|
rs1836444481
|
|
NM_001005373.4(LRSAM1):c.2069G>A (p.Cys690Tyr)
|
rs2132133792
|
|
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2074C>T (p.His692Tyr)
|
rs1836445139
|
|
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln)
|
rs753650841
|
|
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
|
|
|
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
|
|
|
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr)
|
rs2132133868
|
|
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser)
|
rs2132133880
|
|
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr)
|
rs1588144651
|
|
NM_001005373.4(LRSAM1):c.2087G>T (p.Cys696Phe)
|
|
|
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe)
|
rs1275428830
|
|
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro)
|
rs1588144691
|
|
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser)
|
rs150984897
|
|
NM_001005373.4(LRSAM1):c.2111G>T (p.Arg704Leu)
|
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
|
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn)
|
rs1351504702
|
|
NM_001005373.4(LRSAM1):c.2134_2145del (p.Asp712_Gln715del)
|
rs1588144737
|
|
NM_001005373.4(LRSAM1):c.2137A>G (p.Ile713Val)
|
|
|
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del)
|
rs1196955593
|
|
NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)
|
|
|
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
|
|
|
NM_001005373.4(LRSAM1):c.253-9C>A
|
rs199925705
|
|
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile)
|
rs765537196
|
|
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
|
|
|
NM_001005373.4(LRSAM1):c.262C>A (p.Leu88Ile)
|
rs757094037
|
|
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg)
|
rs769569457
|
|
NM_001005373.4(LRSAM1):c.301G>A (p.Gly101Arg)
|
rs558871054
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NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
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NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser)
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rs2132010693
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NM_001005373.4(LRSAM1):c.349A>C (p.Met117Leu)
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NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val)
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rs1224073398
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NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
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NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
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NM_001005373.4(LRSAM1):c.369T>G (p.Ile123Met)
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NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
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NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys)
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rs779873656
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NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys)
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rs1168470052
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NM_001005373.4(LRSAM1):c.398A>G (p.Asn133Ser)
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NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=)
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rs1834732440
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NM_001005373.4(LRSAM1):c.406+5G>A
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rs1834732559
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NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
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NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu)
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rs555377969
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NM_001005373.4(LRSAM1):c.43C>T (p.Arg15Trp)
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NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
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NM_001005373.4(LRSAM1):c.481G>A (p.Glu161Lys)
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NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
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NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg)
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rs142085060
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NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln)
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rs2132014587
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NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
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NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile)
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rs2132014659
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NM_001005373.4(LRSAM1):c.528+5A>G
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NM_001005373.4(LRSAM1):c.528+6T>C
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NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=)
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rs1564255509
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NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
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NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser)
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rs780636250
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NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
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NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
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NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
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NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
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NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser)
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rs1193320677
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NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu)
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rs758867006
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NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val)
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rs758867006
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NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr)
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rs745326217
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NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp)
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rs886063455
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NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
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NM_001005373.4(LRSAM1):c.620-7_620-6del
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rs1468536961
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NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
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NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
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NM_001005373.4(LRSAM1):c.641C>T (p.Pro214Leu)
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NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
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rs765389102
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NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala)
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rs765389102
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NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn)
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rs1419447675
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NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met)
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rs376671005
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NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile)
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rs2132047940
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NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
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NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
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rs551957380
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NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
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NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
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NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met)
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rs565827207
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NM_001005373.4(LRSAM1):c.72+10del
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rs1554753226
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NM_001005373.4(LRSAM1):c.728C>T (p.Ser243Leu)
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NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp)
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rs2132048170
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NM_001005373.4(LRSAM1):c.736G>A (p.Glu246Lys)
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rs2132048180
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NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
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NM_001005373.4(LRSAM1):c.764A>T (p.Asp255Val)
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NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His)
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rs2132060933
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NM_001005373.4(LRSAM1):c.781-15A>T
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NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys)
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rs2132062152
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NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile)
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rs773572737
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NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
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NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His)
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rs368088593
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NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
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NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys)
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rs767107676
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NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
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NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
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NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
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NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe)
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rs1835452387
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NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
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NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala)
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rs142846298
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NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu)
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rs769070078
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NM_001005373.4(LRSAM1):c.904-20A>T
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rs1588120687
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NM_001005373.4(LRSAM1):c.904-3C>T
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NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro)
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rs140151379
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NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn)
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rs1564248731
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NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
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NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr)
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rs1588120809
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NM_001005373.4(LRSAM1):c.944G>T (p.Arg315Leu)
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rs764321843
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NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
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NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
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NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
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NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val)
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rs2132064383
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