ClinVar Miner

List of variants in gene LRSAM1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (145):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
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HGVS dbSNP
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.11:g.(?_130241724_130244069del
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.*121C>T
NM_001005373.4(LRSAM1):c.*238G>A rs886063459
NM_001005373.4(LRSAM1):c.*350C>A rs764119919
NM_001005373.4(LRSAM1):c.*356G>A
NM_001005373.4(LRSAM1):c.*370C>T
NM_001005373.4(LRSAM1):c.*392G>T
NM_001005373.4(LRSAM1):c.*501C>T rs886063460
NM_001005373.4(LRSAM1):c.*552A>G
NM_001005373.4(LRSAM1):c.*57G>A rs549468112
NM_001005373.4(LRSAM1):c.*588T>A rs886063461
NM_001005373.4(LRSAM1):c.*590T>C rs139260397
NM_001005373.4(LRSAM1):c.*597T>G rs751523580
NM_001005373.4(LRSAM1):c.-127C>A
NM_001005373.4(LRSAM1):c.-188-121A>G rs886063453
NM_001005373.4(LRSAM1):c.-189+110G>A rs886063451
NM_001005373.4(LRSAM1):c.-189+127A>G
NM_001005373.4(LRSAM1):c.-189+47C>T rs886063450
NM_001005373.4(LRSAM1):c.-199A>G rs760403428
NM_001005373.4(LRSAM1):c.-302C>T
NM_001005373.4(LRSAM1):c.-308G>A
NM_001005373.4(LRSAM1):c.-316C>T rs116498902
NM_001005373.4(LRSAM1):c.-35C>T
NM_001005373.4(LRSAM1):c.-78C>T rs886063454
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs)
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=) rs762785076
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.1037A>G (p.Asn346Ser) rs1188237904
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_001005373.4(LRSAM1):c.1043+1G>A
NM_001005373.4(LRSAM1):c.1043+2T>G rs746455518
NM_001005373.4(LRSAM1):c.1043+5G>A rs780868977
NM_001005373.4(LRSAM1):c.1044-20T>C
NM_001005373.4(LRSAM1):c.1044-9T>C rs59501881
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile)
NM_001005373.4(LRSAM1):c.1059C>T (p.Ser353=)
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_001005373.4(LRSAM1):c.1071A>G (p.Lys357=) rs1588122290
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His)
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser)
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=)
NM_001005373.4(LRSAM1):c.1088+1G>C rs765641195
NM_001005373.4(LRSAM1):c.1088+9T>C
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs)
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240
NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter)
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=)
NM_001005373.4(LRSAM1):c.1131T>A (p.Thr377=) rs141912153
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys)
NM_001005373.4(LRSAM1):c.1152C>T (p.Asp384=) rs760074620
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_001005373.4(LRSAM1):c.1159+13A>T
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=) rs763903913
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp)
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_001005373.4(LRSAM1):c.1203C>T (p.Leu401=)
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro) rs762731732
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_001005373.4(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=)
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val)
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=)
NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=)
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val)
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg)
NM_001005373.4(LRSAM1):c.1333del (p.Gln445fs)
NM_001005373.4(LRSAM1):c.1347+3G>T
NM_001005373.4(LRSAM1):c.1347+5G>A rs368570954
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.1348-1G>A rs747659617
NM_001005373.4(LRSAM1):c.1348-6T>A
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_001005373.4(LRSAM1):c.1353G>A (p.Ala451=) rs535634291
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr)
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp)
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
NM_001005373.4(LRSAM1):c.1422+15T>A
NM_001005373.4(LRSAM1):c.1422+42_1422+43del
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser)
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=)
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=)
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs) rs1588132672
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098
NM_001005373.4(LRSAM1):c.1503+8G>C
NM_001005373.4(LRSAM1):c.1504-4G>A
NM_001005373.4(LRSAM1):c.1504-5C>G rs377190920
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=)
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys)
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln)
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His)
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu)
NM_001005373.4(LRSAM1):c.1572G>A (p.Gln524=)
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=)
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710
NM_001005373.4(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=)
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_001005373.4(LRSAM1):c.1632G>A (p.Gln544=) rs762712712
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=)
NM_001005373.4(LRSAM1):c.1699-3C>T
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp)
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=)
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys)
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His)
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro)
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg)
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_001005373.4(LRSAM1):c.175-18G>T
NM_001005373.4(LRSAM1):c.175-2A>T
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp)
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys)
NM_001005373.4(LRSAM1):c.1759C>T (p.Leu587=)
NM_001005373.4(LRSAM1):c.1764C>A (p.Pro588=)
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala)
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=)
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
NM_001005373.4(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_001005373.4(LRSAM1):c.1782C>T (p.Arg594=)
NM_001005373.4(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr)
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr)
NM_001005373.4(LRSAM1):c.1830+20A>G
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met)
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser)
NM_001005373.4(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys)
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp)
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln)
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_001005373.4(LRSAM1):c.1878C>T (p.Val626=)
NM_001005373.4(LRSAM1):c.1885C>T (p.Leu629=) rs764391717
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg)
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met) rs369161790
NM_001005373.4(LRSAM1):c.1912+10C>T rs1473393318
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser)
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)
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
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.1949C>T (p.Thr650Met)
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_001005373.4(LRSAM1):c.1978_1979dup (p.Pro661fs)
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala)
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.2008del (p.Val670fs)
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala)
NM_001005373.4(LRSAM1):c.2016C>G (p.Ala672=)
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2029_2046+7del
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
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+16T>C
NM_001005373.4(LRSAM1):c.2046+1G>T rs1588143215
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=)
NM_001005373.4(LRSAM1):c.2046_2046+12del
NM_001005373.4(LRSAM1):c.2047-1G>A rs1564287793
NM_001005373.4(LRSAM1):c.2047-3C>T rs1588144581
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser)
NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp)
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=)
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser)
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_001005373.4(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His)
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn)
NM_001005373.4(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_001005373.4(LRSAM1):c.2140G>A (p.Ala714Thr) rs527668507
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del)
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)
NM_001005373.4(LRSAM1):c.231C>T (p.Leu77=) rs149769300
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.249C>T (p.Ile83=) rs2243906
NM_001005373.4(LRSAM1):c.252+10C>A
NM_001005373.4(LRSAM1):c.252+10C>T rs765686374
NM_001005373.4(LRSAM1):c.252+1G>A rs1554753670
NM_001005373.4(LRSAM1):c.252+8G>A
NM_001005373.4(LRSAM1):c.253-9C>A
NM_001005373.4(LRSAM1):c.253-9C>T rs199925705
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile)
NM_001005373.4(LRSAM1):c.258A>G (p.Leu86=)
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr)
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu) rs746714138
NM_001005373.4(LRSAM1):c.267C>T (p.His89=) rs148528063
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys)
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg)
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_001005373.4(LRSAM1):c.300G>A (p.Leu100=) rs758812956
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala)
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=)
NM_001005373.4(LRSAM1):c.350T>C (p.Met117Thr) rs201772539
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val)
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr)
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His)
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404
NM_001005373.4(LRSAM1):c.406+7A>T
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=) rs151323851
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=)
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met)
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys)
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_001005373.4(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_001005373.4(LRSAM1):c.471C>T (p.Ile157=) rs1588100876
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_001005373.4(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)
NM_001005373.4(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile)
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=)
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile)
NM_001005373.4(LRSAM1):c.528+15G>C
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.529-6C>T rs754162095
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His)
NM_001005373.4(LRSAM1):c.543C>T (p.Asp181=)
NM_001005373.4(LRSAM1):c.546C>T (p.Ala182=) rs956107977
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=)
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_001005373.4(LRSAM1):c.564G>T (p.Pro188=)
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=) rs761890031
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp)
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_001005373.4(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
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.598A>G (p.Ile200Val)
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu)
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs)
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_001005373.4(LRSAM1):c.619+11G>A rs370502826
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900
NM_001005373.4(LRSAM1):c.620-9C>A
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.645T>A (p.Pro215=) rs1588114575
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu) rs769236666
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn)
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=)
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919
NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=) rs572330792
NM_001005373.4(LRSAM1):c.702C>T (p.Ser234=)
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met)
NM_001005373.4(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu)
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp)
NM_001005373.4(LRSAM1):c.750+2T>G
NM_001005373.4(LRSAM1):c.750+33G>A rs2250267
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841
NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=) rs754374008
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp)
NM_001005373.4(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_001005373.4(LRSAM1):c.786G>A (p.Gln262=) rs748439646
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile)
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys)
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His)
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys)
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=) rs199947399
NM_001005373.4(LRSAM1):c.843C>T (p.His281=)
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_001005373.4(LRSAM1):c.849G>A (p.Gln283=) rs375636993
NM_001005373.4(LRSAM1):c.849_1088+565del
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe)
NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala) rs142846298
NM_001005373.4(LRSAM1):c.873G>A (p.Gln291=)
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met) rs747368361
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_001005373.4(LRSAM1):c.903+38T>C rs1539569
NM_001005373.4(LRSAM1):c.904-2A>G
NM_001005373.4(LRSAM1):c.904-4del rs757987823
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln)
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln)
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser)
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met)
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=) rs368674859
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=)

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