ClinVar Miner

List of variants in gene LRSAM1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 696
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001005373.4(LRSAM1):c.1044-9T>C rs59501881 0.00523
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.469A>G (p.Ile157Val) rs150292099 0.00105
NM_001005373.4(LRSAM1):c.1131T>A (p.Thr377=) rs141912153 0.00078
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
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.2121G>A (p.Pro707=) rs570732998 0.00049
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.350T>C (p.Met117Thr) rs201772539 0.00034
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001005373.4(LRSAM1):c.252+16C>G rs367844312 0.00031
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340 0.00024
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 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.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_001005373.4(LRSAM1):c.570G>A (p.Arg190=) rs545814024 0.00020
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.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.1259+20T>C rs527535011 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.267C>T (p.His89=) rs148528063 0.00011
NM_001005373.4(LRSAM1):c.585C>T (p.Ala195=) rs144645671 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001005373.4(LRSAM1):c.1699-16C>T rs201702419 0.00010
NM_001005373.4(LRSAM1):c.175-18G>A rs752028583 0.00010
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1348-1G>A rs747659617 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001005373.4(LRSAM1):c.1830+20A>G rs199932024 0.00009
NM_001005373.4(LRSAM1):c.1912+13C>T rs201671353 0.00009
NM_001005373.4(LRSAM1):c.2046+16T>C rs753575542 0.00009
NM_001005373.4(LRSAM1):c.253-20C>T rs764243243 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549 0.00009
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=) rs368674859 0.00009
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646 0.00008
NM_001005373.4(LRSAM1):c.1830+14G>A rs768288133 0.00007
NM_001005373.4(LRSAM1):c.339G>A (p.Arg113=) rs146613642 0.00007
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.1074G>A (p.Ser358=) rs776894109 0.00006
NM_001005373.4(LRSAM1):c.1347+20C>T rs766326390 0.00006
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669 0.00006
NM_001005373.4(LRSAM1):c.1504-4G>A rs370872133 0.00006
NM_001005373.4(LRSAM1):c.175-19C>T rs758774140 0.00006
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met) rs773505699 0.00006
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=) rs147805183 0.00006
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=) rs566890772 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.1347+5G>A rs368570954 0.00005
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971 0.00005
NM_001005373.4(LRSAM1):c.252+8G>A rs751872462 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.529-6C>T rs754162095 0.00005
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp) rs767583106 0.00005
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769 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.1353G>A (p.Ala451=) rs535634291 0.00004
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu) rs546739304 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537 0.00004
NM_001005373.4(LRSAM1):c.1632G>A (p.Gln544=) rs762712712 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.2047-15G>A rs367860563 0.00004
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093 0.00004
NM_001005373.4(LRSAM1):c.231C>T (p.Leu77=) rs149769300 0.00004
NM_001005373.4(LRSAM1):c.252+3A>G rs764331245 0.00004
NM_001005373.4(LRSAM1):c.294C>T (p.Asp98=) rs79514284 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.543C>T (p.Asp181=) rs770410548 0.00004
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=) rs572330792 0.00004
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=) rs146079606 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 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.129+20G>C rs766476460 0.00003
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.1504-5C>G rs377190920 0.00003
NM_001005373.4(LRSAM1):c.1587C>T (p.Leu529=) rs201588177 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 0.00003
NM_001005373.4(LRSAM1):c.1759C>T (p.Leu587=) rs936559080 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.498G>A (p.Pro166=) rs140809697 0.00003
NM_001005373.4(LRSAM1):c.546C>T (p.Ala182=) rs956107977 0.00003
NM_001005373.4(LRSAM1):c.619+11G>A rs370502826 0.00003
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=) rs376671005 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
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.1059C>T (p.Ser353=) rs772067610 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.120G>A (p.Glu40=) rs775125689 0.00002
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe) rs751314768 0.00002
NM_001005373.4(LRSAM1):c.1341G>A (p.Leu447=) rs781611387 0.00002
NM_001005373.4(LRSAM1):c.1422+7G>A rs769842908 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.1764C>A (p.Pro588=) rs749407044 0.00002
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=) rs377678883 0.00002
NM_001005373.4(LRSAM1):c.1830+13C>T rs374449653 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.717G>A (p.Thr239=) rs769930277 0.00002
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp) rs766288153 0.00002
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=) rs199947399 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.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=) rs762785076 0.00001
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904 0.00001
NM_001005373.4(LRSAM1):c.1043+18G>A rs775108432 0.00001
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117 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.1144C>T (p.Arg382Ter) rs752177472 0.00001
NM_001005373.4(LRSAM1):c.1152C>T (p.Asp384=) rs760074620 0.00001
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291 0.00001
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270 0.00001
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=) rs763903913 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.1236C>T (p.Asn412=) rs186139632 0.00001
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=) rs757101883 0.00001
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=) rs144095352 0.00001
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys) rs767351229 0.00001
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=) rs771415278 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.1423-13G>A rs751110136 0.00001
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=) rs780956904 0.00001
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro) rs369939320 0.00001
NM_001005373.4(LRSAM1):c.1503+8G>C rs761964249 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.1572G>A (p.Gln524=) rs746202048 0.00001
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710 0.00001
NM_001005373.4(LRSAM1):c.1599+17T>G rs368471851 0.00001
NM_001005373.4(LRSAM1):c.1599+18G>C rs1406274226 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.1694del (p.Leu565fs) rs749012928 0.00001
NM_001005373.4(LRSAM1):c.1698+20G>A rs749662590 0.00001
NM_001005373.4(LRSAM1):c.1699-3C>T rs756218616 0.00001
NM_001005373.4(LRSAM1):c.1794C>T (p.Asp598=) rs758898673 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.1815del (p.Asp607fs) rs747130246 0.00001
NM_001005373.4(LRSAM1):c.1836C>T (p.Gly612=) rs577254396 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.1885C>T (p.Leu629=) rs764391717 0.00001
NM_001005373.4(LRSAM1):c.1912+10C>T rs1473393318 0.00001
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608 0.00001
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=) rs778625125 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.2016C>G (p.Ala672=) rs1229154466 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 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.2094G>A (p.Gln698=) rs752678501 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.2140G>A (p.Ala714Thr) rs527668507 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.252+10C>A rs765686374 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.300G>A (p.Leu100=) rs758812956 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.407-10G>A rs916806387 0.00001
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=) rs781577020 0.00001
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln) rs200115008 0.00001
NM_001005373.4(LRSAM1):c.513C>T (p.His171=) rs757426906 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.564G>A (p.Pro188=) rs774399646 0.00001
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=) rs761890031 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.63G>A (p.Gln21=) rs1057521344 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.702C>T (p.Ser234=) rs777755879 0.00001
NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=) rs754374008 0.00001
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp) rs548898578 0.00001
NM_001005373.4(LRSAM1):c.780+13C>T rs1451126007 0.00001
NM_001005373.4(LRSAM1):c.781-17G>A rs202170746 0.00001
NM_001005373.4(LRSAM1):c.786G>A (p.Gln262=) rs748439646 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.846C>G (p.Thr282=) rs548270854 0.00001
NM_001005373.4(LRSAM1):c.849G>A (p.Gln283=) rs375636993 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.988C>T (p.Gln330Ter) rs1156243243 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_000009.11:g.(?_130229999)_(130230129_?)del
NC_000009.11:g.(?_130241728)_(130244069_?)del
NC_000009.11:g.(?_130245209)_(130245319_?)del
NC_000009.11:g.(?_130248084)_(130254631_?)del
NC_000009.11:g.(?_130265033)_(130265178_?)del
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127501000)_(127501153_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
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+18G>C
NM_001005373.4(LRSAM1):c.1043+1G>A rs373571535
NM_001005373.4(LRSAM1):c.1043+1G>T
NM_001005373.4(LRSAM1):c.1043+2T>G rs746455518
NM_001005373.4(LRSAM1):c.1044-16A>G
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.1071A>G (p.Lys357=) rs1588122290
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.1083T>C (p.Asn361=) rs1835524969
NM_001005373.4(LRSAM1):c.1088+19G>A
NM_001005373.4(LRSAM1):c.1088+2T>G
NM_001005373.4(LRSAM1):c.1088+9T>C rs753087190
NM_001005373.4(LRSAM1):c.1089-11T>A
NM_001005373.4(LRSAM1):c.1089-1G>C
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
NM_001005373.4(LRSAM1):c.1093A>C (p.Arg365=) rs2132073036
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs) rs1834464693
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=) rs1835594332
NM_001005373.4(LRSAM1):c.1135_1136del (p.Ser379fs) rs2132073231
NM_001005373.4(LRSAM1):c.1159+16G>A
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.1203C>T (p.Leu401=) rs774735924
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
NM_001005373.4(LRSAM1):c.1218C>T (p.Tyr406=)
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_001005373.4(LRSAM1):c.1251C>A (p.Ala417=)
NM_001005373.4(LRSAM1):c.1259+12A>G
NM_001005373.4(LRSAM1):c.1259+16G>T
NM_001005373.4(LRSAM1):c.1259+19G>A
NM_001005373.4(LRSAM1):c.1260-13_1260-12del
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=) rs1404495701
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val) rs750243357
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
NM_001005373.4(LRSAM1):c.1281A>G (p.Arg427=)
NM_001005373.4(LRSAM1):c.129+16T>C
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
NM_001005373.4(LRSAM1):c.1299G>A (p.Ser433=)
NM_001005373.4(LRSAM1):c.130-19C>T
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
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.1333del (p.Gln445fs) rs866892723
NM_001005373.4(LRSAM1):c.1347+10C>T
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.1347+8_1347+20del
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
NM_001005373.4(LRSAM1):c.1350C>T (p.Ser450=) rs369401880
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.1371C>T (p.Phe457=)
NM_001005373.4(LRSAM1):c.1377A>G (p.Ala459=)
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
NM_001005373.4(LRSAM1):c.1398G>A (p.Leu466=)
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.1422+14C>T
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser) rs1835920830
NM_001005373.4(LRSAM1):c.1440T>C (p.Thr480=)
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=) rs756804646
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.1493_1494del (p.Glu498fs) rs1588132672
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
NM_001005373.4(LRSAM1):c.1503+13C>T
NM_001005373.4(LRSAM1):c.1503+14C>T
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.1504-16G>T
NM_001005373.4(LRSAM1):c.1504-2A>G rs1064797013
NM_001005373.4(LRSAM1):c.1504-5C>T
NM_001005373.4(LRSAM1):c.1504-8G>C rs1295097741
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=) rs199703262
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_001005373.4(LRSAM1):c.153A>C (p.Thr51=) rs2131991694
NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)
NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)
NM_001005373.4(LRSAM1):c.1557C>T (p.Leu519=) rs1352690878
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg) rs754095363
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
NM_001005373.4(LRSAM1):c.1599+17T>C rs368471851
NM_001005373.4(LRSAM1):c.1599+19T>C
NM_001005373.4(LRSAM1):c.1599+20G>A rs2132103431
NM_001005373.4(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
NM_001005373.4(LRSAM1):c.1629G>A (p.Arg543=) rs752477588
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
NM_001005373.4(LRSAM1):c.1665T>G (p.Leu555=)
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
NM_001005373.4(LRSAM1):c.1680C>T (p.Pro560=)
NM_001005373.4(LRSAM1):c.1698+14G>A
NM_001005373.4(LRSAM1):c.1698+6G>A
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=) rs1256215388
NM_001005373.4(LRSAM1):c.1699-10T>C
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=) rs2132112222
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His) rs1451403749
NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro) rs1836124813
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg) rs1235938569
NM_001005373.4(LRSAM1):c.174+33_174+34insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACTCCGCCCGGCTAATTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTCAGAGACTTTCTT rs2131991830
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_001005373.4(LRSAM1):c.175-12C>T rs1167547039
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001005373.4(LRSAM1):c.175-6A>G
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
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>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.1782C>T (p.Arg594=) rs753979299
NM_001005373.4(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
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.1830+8G>A
NM_001005373.4(LRSAM1):c.1831-13T>C rs2132116158
NM_001005373.4(LRSAM1):c.1831-15C>T
NM_001005373.4(LRSAM1):c.1831-19C>T
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met) rs771783337
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp) rs375938990
NM_001005373.4(LRSAM1):c.1878C>T (p.Val626=) rs2132116337
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg) rs1836188217
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC rs1836189857
NM_001005373.4(LRSAM1):c.1913-12T>C
NM_001005373.4(LRSAM1):c.1913-20T>G rs2132127818
NM_001005373.4(LRSAM1):c.1913-4del
NM_001005373.4(LRSAM1):c.1913-5dup
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.1938C>T (p.Val646=)
NM_001005373.4(LRSAM1):c.1941C>G (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
NM_001005373.4(LRSAM1):c.1953C>A (p.Ala651=)
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs) rs775965001
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_001005373.4(LRSAM1):c.1962G>A (p.Glu654=)
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.1978_1979dup (p.Pro661fs) rs1836370529
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
NM_001005373.4(LRSAM1):c.198C>T (p.His66=)
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr) rs148846371
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
NM_001005373.4(LRSAM1):c.1995T>C (p.Pro665=) rs974205215
NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu) rs1399738186
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
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.2010G>A (p.Val670=)
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
NM_001005373.4(LRSAM1):c.2026_2027del (p.Val676fs) rs2132128455
NM_001005373.4(LRSAM1):c.2028C>A (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=) rs566890772
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.2033_2038del (p.Cys678_Glu680delinsTer)
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001005373.4(LRSAM1):c.2037G>A (p.Leu679=)
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_001005373.4(LRSAM1):c.2046+10G>A rs2132128662
NM_001005373.4(LRSAM1):c.2046+1G>A
NM_001005373.4(LRSAM1):c.2046+3_2046+6dup rs1294543474
NM_001005373.4(LRSAM1):c.2046+9G>A
NM_001005373.4(LRSAM1):c.2046_2046+12del rs2132128595
NM_001005373.4(LRSAM1):c.2047-16C>T
NM_001005373.4(LRSAM1):c.2047-1G>A rs1564287793
NM_001005373.4(LRSAM1):c.2047-4C>T
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val) rs1836444367
NM_001005373.4(LRSAM1):c.2058C>T (p.Ile686=)
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser) rs1836444481
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
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.2075_2087del (p.His692fs)
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_001005373.4(LRSAM1):c.2076C>T (p.His692=)
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=) rs1273717712
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
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.2089C>T (p.Gln697Ter) rs961918637
NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe) rs1275428830
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_001005373.4(LRSAM1):c.2103G>A (p.Gln701=) rs777789178
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_001005373.4(LRSAM1):c.2108_2114del (p.Leu703fs)
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser) rs150984897
NM_001005373.4(LRSAM1):c.2112C>T (p.Arg704=)
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2121G>T (p.Pro707=) rs570732998
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del) rs1196955593
NM_001005373.4(LRSAM1):c.234G>A (p.Leu78=) rs566623718
NM_001005373.4(LRSAM1):c.246C>T (p.Thr82=) rs1168027198
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
NM_001005373.4(LRSAM1):c.252+10C>T rs765686374
NM_001005373.4(LRSAM1):c.252+1G>A rs1554753670
NM_001005373.4(LRSAM1):c.252+9C>T rs1834560472
NM_001005373.4(LRSAM1):c.253-15del
NM_001005373.4(LRSAM1):c.253-17G>T
NM_001005373.4(LRSAM1):c.253-9C>T 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.258A>G (p.Leu86=) rs1259389825
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
NM_001005373.4(LRSAM1):c.30C>T (p.Pro10=) rs1588090324
NM_001005373.4(LRSAM1):c.321+14A>G rs2132003521
NM_001005373.4(LRSAM1):c.322-17C>T
NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
NM_001005373.4(LRSAM1):c.322-9C>T
NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser) rs2132010693
NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter) rs2132010730
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val) rs1224073398
NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_001005373.4(LRSAM1):c.375C>T (p.Asn125=)
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter) rs1168470052
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_001005373.4(LRSAM1):c.39G>A (p.Glu13=)
NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=) rs1834732440
NM_001005373.4(LRSAM1):c.406+13A>G
NM_001005373.4(LRSAM1):c.406+15G>A
NM_001005373.4(LRSAM1):c.406+17C>T
NM_001005373.4(LRSAM1):c.406+18G>A
NM_001005373.4(LRSAM1):c.406+20G>A
NM_001005373.4(LRSAM1):c.406+5G>A rs1834732559
NM_001005373.4(LRSAM1):c.406+7A>T rs1163117546
NM_001005373.4(LRSAM1):c.407-15T>G
NM_001005373.4(LRSAM1):c.407-8C>T
NM_001005373.4(LRSAM1):c.428_435dup (p.Val146fs)
NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_001005373.4(LRSAM1):c.438G>C (p.Val146=)
NM_001005373.4(LRSAM1):c.438G>T (p.Val146=)
NM_001005373.4(LRSAM1):c.441G>A (p.Gly147=)
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
NM_001005373.4(LRSAM1):c.454C>T (p.Leu152=) rs140143823
NM_001005373.4(LRSAM1):c.471C>T (p.Ile157=) rs1588100876
NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg) rs142085060
NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln) rs2132014587
NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile) rs2132014659
NM_001005373.4(LRSAM1):c.528+12G>A
NM_001005373.4(LRSAM1):c.528+15G>A
NM_001005373.4(LRSAM1):c.528+15G>C rs758039190
NM_001005373.4(LRSAM1):c.528+6T>C
NM_001005373.4(LRSAM1):c.528+8G>A
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser) rs780636250
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=) rs1459773762
NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
NM_001005373.4(LRSAM1):c.564G>C (p.Pro188=)
NM_001005373.4(LRSAM1):c.564G>T (p.Pro188=) rs774399646
NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr) rs745326217
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs) rs1215220865
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
NM_001005373.4(LRSAM1):c.619+14G>T rs770398029
NM_001005373.4(LRSAM1):c.619+15C>T
NM_001005373.4(LRSAM1):c.620-11G>A rs369968003
NM_001005373.4(LRSAM1):c.620-11G>C
NM_001005373.4(LRSAM1):c.620-7_620-6del rs1468536961
NM_001005373.4(LRSAM1):c.620-8T>C rs2132047746
NM_001005373.4(LRSAM1):c.620-9C>A rs1588114537
NM_001005373.4(LRSAM1):c.620-9C>G rs1588114537
NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
NM_001005373.4(LRSAM1):c.642C>G (p.Pro214=)
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala) rs765389102
NM_001005373.4(LRSAM1):c.645T>A (p.Pro215=) rs1588114575
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn) rs1419447675
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met) rs376671005
NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile) rs2132047940
NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met) rs565827207
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001005373.4(LRSAM1):c.73-14C>A
NM_001005373.4(LRSAM1):c.73-14C>G
NM_001005373.4(LRSAM1):c.73-2A>T
NM_001005373.4(LRSAM1):c.73-8A>T
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp) rs2132048170
NM_001005373.4(LRSAM1):c.744G>A (p.Glu248=)
NM_001005373.4(LRSAM1):c.750+15C>T
NM_001005373.4(LRSAM1):c.751-18_751-15del
NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His) rs2132060933
NM_001005373.4(LRSAM1):c.780+9dup rs2132060965
NM_001005373.4(LRSAM1):c.781-11G>C
NM_001005373.4(LRSAM1):c.781-15A>T
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys) rs2132062152
NM_001005373.4(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile) rs773572737
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His) rs368088593
NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys) rs767107676
NM_001005373.4(LRSAM1):c.831G>T (p.Gly277=)
NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
NM_001005373.4(LRSAM1):c.843C>T (p.His281=) rs779095402
NM_001005373.4(LRSAM1):c.846C>T (p.Thr282=)
NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
NM_001005373.4(LRSAM1):c.849_1088+565del
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe) rs1835452387
NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
NM_001005373.4(LRSAM1):c.873G>A (p.Gln291=) rs2132062633
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_001005373.4(LRSAM1):c.903+11C>T
NM_001005373.4(LRSAM1):c.903+13C>A
NM_001005373.4(LRSAM1):c.903+1G>T rs1272943113
NM_001005373.4(LRSAM1):c.904-16C>T
NM_001005373.4(LRSAM1):c.904-17_949del rs2132063794
NM_001005373.4(LRSAM1):c.904-18C>T rs2132063814
NM_001005373.4(LRSAM1):c.904-20A>T rs1588120687
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884
NM_001005373.4(LRSAM1):c.904-3C>T
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro) rs140151379
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val) rs2132064383
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=) rs540942030

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