ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome with tubular aggregates by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile) rs190072721 0.00093
NM_001244710.2(GFPT1):c.7+20G>T rs373299682 0.00088
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_033087.4(ALG2):c.348+6G>A rs368075764 0.00063
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488 0.00048
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=) rs146463758 0.00028
NM_001244710.2(GFPT1):c.408+19A>G rs201470680 0.00026
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=) rs369055649 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_001382.4(DPAGT1):c.728+9G>A rs369353136 0.00014
NM_001244710.2(GFPT1):c.1483-11T>G rs147573852 0.00013
NM_033087.4(ALG2):c.813C>T (p.Asp271=) rs551873509 0.00010
NM_033087.4(ALG2):c.948G>A (p.Thr316=) rs375746453 0.00010
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=) rs775046657 0.00009
NM_033087.4(ALG2):c.1038G>A (p.Ser346=) rs200138333 0.00009
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_001244710.2(GFPT1):c.1483-8T>C rs569347921 0.00007
NM_001244710.2(GFPT1):c.739+6A>G rs542110221 0.00007
NM_033087.4(ALG2):c.348+20G>C rs768131229 0.00007
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=) rs373488949 0.00006
NM_001244710.2(GFPT1):c.1894-9C>T rs765467067 0.00006
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=) rs199770054 0.00006
NM_001244710.2(GFPT1):c.845+7T>C rs371199882 0.00006
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_033087.4(ALG2):c.255C>G (p.Gly85=) rs562977386 0.00006
NM_033087.4(ALG2):c.60C>T (p.Leu20=) rs200338773 0.00006
NM_033087.4(ALG2):c.981T>C (p.Phe327=) rs34382969 0.00006
NM_001244710.2(GFPT1):c.739+11C>T rs576618872 0.00005
NM_001382.4(DPAGT1):c.644-10G>A rs192269738 0.00005
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897 0.00005
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=) rs772941507 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00004
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=) rs141520017 0.00004
NM_001244710.2(GFPT1):c.845+18A>C rs373520133 0.00004
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=) rs754486756 0.00004
NM_001382.4(DPAGT1):c.162-6C>T rs761454590 0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=) rs756818317 0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=) rs773853061 0.00004
NM_033087.4(ALG2):c.1116A>G (p.Ala372=) rs573570972 0.00004
NM_033087.4(ALG2):c.657A>C (p.Leu219=) rs201667181 0.00004
NM_033087.4(ALG2):c.687C>T (p.Leu229=) rs762613857 0.00004
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=) rs1207796251 0.00003
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=) rs759065498 0.00003
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=) rs759431850 0.00003
NM_001244710.2(GFPT1):c.685+15A>G rs754593037 0.00003
NM_001244710.2(GFPT1):c.686-8A>G rs747052866 0.00003
NM_001244710.2(GFPT1):c.740-7G>A rs1389698795 0.00003
NM_001244710.2(GFPT1):c.846-14T>C rs373534126 0.00003
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=) rs140814934 0.00003
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.496+17C>T rs749725470 0.00003
NM_001382.4(DPAGT1):c.644-15T>A rs749199504 0.00003
NM_001382.4(DPAGT1):c.918-8C>T rs531346717 0.00003
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080 0.00003
NM_033087.4(ALG2):c.495C>T (p.Tyr165=) rs962112292 0.00003
NM_033087.4(ALG2):c.783G>A (p.Arg261=) rs765386769 0.00003
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=) rs370693172 0.00002
NM_001244710.2(GFPT1):c.1482+16A>G rs376276502 0.00002
NM_001244710.2(GFPT1):c.1726-9T>C rs757234942 0.00002
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=) rs200986371 0.00002
NM_001244710.2(GFPT1):c.1894-14A>G rs775899275 0.00002
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=) rs763874345 0.00002
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=) rs764483590 0.00002
NM_001244710.2(GFPT1):c.740-16T>A rs749648987 0.00002
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=) rs780625734 0.00002
NM_001382.4(DPAGT1):c.497-5C>T rs556782038 0.00002
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=) rs372356780 0.00002
NM_033087.4(ALG2):c.426G>C (p.Leu142=) rs778882264 0.00002
NM_033087.4(ALG2):c.462A>G (p.Leu154=) rs746100517 0.00002
NM_033087.4(ALG2):c.6G>A (p.Ala2=) rs766287162 0.00002
NM_033087.4(ALG2):c.93G>C (p.Arg31=) rs1012959999 0.00002
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 0.00001
NM_001244710.2(GFPT1):c.116-6G>A rs762154144 0.00001
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=) rs1161440351 0.00001
NM_001244710.2(GFPT1):c.1597+11A>C rs778286888 0.00001
NM_001244710.2(GFPT1):c.1845C>T (p.His615=) rs756332941 0.00001
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=) rs377155851 0.00001
NM_001244710.2(GFPT1):c.1893+7C>T rs375872036 0.00001
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=) rs765856240 0.00001
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=) rs766101867 0.00001
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=) rs754236476 0.00001
NM_001244710.2(GFPT1):c.223+19T>C rs532780798 0.00001
NM_001244710.2(GFPT1):c.224-9A>G rs1207347337 0.00001
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=) rs763230648 0.00001
NM_001244710.2(GFPT1):c.408+15C>T rs1357797263 0.00001
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=) rs752515655 0.00001
NM_001382.4(DPAGT1):c.1006-8C>G rs1357255095 0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) rs761911331 0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=) rs768805817 0.00001
NM_001382.4(DPAGT1):c.1161+10G>A rs761082821 0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) rs747073447 0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=) rs746759603 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) rs200588529 0.00001
NM_001382.4(DPAGT1):c.162-20C>T rs749879111 0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) rs1438468092 0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=) rs200991527 0.00001
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) rs376528767 0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=) rs778726543 0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=) rs767551785 0.00001
NM_001382.4(DPAGT1):c.643+14G>C rs536452844 0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) rs1371529040 0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=) rs780516960 0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=) rs1432186196 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_033087.4(ALG2):c.1020A>G (p.Pro340=) rs762693196 0.00001
NM_033087.4(ALG2):c.1098G>A (p.Pro366=) rs562373747 0.00001
NM_033087.4(ALG2):c.117G>A (p.Ala39=) rs1353112014 0.00001
NM_033087.4(ALG2):c.12G>A (p.Glu4=) rs1036766977 0.00001
NM_033087.4(ALG2):c.183C>T (p.Ala61=) rs755793459 0.00001
NM_033087.4(ALG2):c.192C>T (p.Arg64=) rs367616427 0.00001
NM_033087.4(ALG2):c.198A>G (p.Leu66=) rs374316187 0.00001
NM_033087.4(ALG2):c.303G>A (p.Val101=) rs371910648 0.00001
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548 0.00001
NM_033087.4(ALG2):c.33G>A (p.Ser11=) rs775776287 0.00001
NM_033087.4(ALG2):c.375G>A (p.Arg125=) rs1270655898 0.00001
NM_033087.4(ALG2):c.39C>G (p.Pro13=) rs746087117 0.00001
NM_033087.4(ALG2):c.402A>G (p.Leu134=) rs772364404 0.00001
NM_033087.4(ALG2):c.48G>C (p.Ser16=) rs199752563 0.00001
NM_033087.4(ALG2):c.571C>T (p.Leu191=) rs1828740241 0.00001
NM_033087.4(ALG2):c.663C>T (p.Pro221=) rs201126562 0.00001
NM_033087.4(ALG2):c.690C>T (p.Ser230=) rs368526201 0.00001
NM_033087.4(ALG2):c.699A>G (p.Arg233=) rs746932585 0.00001
NM_033087.4(ALG2):c.702C>T (p.Tyr234=) rs370457158 0.00001
NM_033087.4(ALG2):c.70C>T (p.Leu24=) rs143683491 0.00001
NM_033087.4(ALG2):c.894C>G (p.Thr298=) rs758885892 0.00001
NM_033087.4(ALG2):c.936C>T (p.Leu312=) rs753807667 0.00001
NM_001244710.2(GFPT1):c.1009+17T>A
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=) rs2104631088
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) rs1458911769
NM_001244710.2(GFPT1):c.1105+7A>T
NM_001244710.2(GFPT1):c.1106-9T>C
NM_001244710.2(GFPT1):c.115+15A>G rs1401182899
NM_001244710.2(GFPT1):c.115+17A>G
NM_001244710.2(GFPT1):c.115+20A>G
NM_001244710.2(GFPT1):c.116-19T>C
NM_001244710.2(GFPT1):c.116-6G>C rs762154144
NM_001244710.2(GFPT1):c.1204-13A>G
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=) rs1339146756
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) rs1168233879
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) rs1574080849
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=) rs1196976693
NM_001244710.2(GFPT1):c.1324+10_1324+15del rs777934882
NM_001244710.2(GFPT1):c.1324+9A>C
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=) rs2104616321
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) rs968995023
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)
NM_001244710.2(GFPT1):c.1483-10G>A
NM_001244710.2(GFPT1):c.1483-18T>C
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=) rs767370476
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
NM_001244710.2(GFPT1):c.1597+15dup rs2104600661
NM_001244710.2(GFPT1):c.1598-16T>A
NM_001244710.2(GFPT1):c.1598-5C>A
NM_001244710.2(GFPT1):c.1598-8C>T
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=) rs2104600073
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=) rs2104599962
NM_001244710.2(GFPT1):c.1725+14G>C
NM_001244710.2(GFPT1):c.1726-16G>C
NM_001244710.2(GFPT1):c.1726-5A>G
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)
NM_001244710.2(GFPT1):c.1894-9C>G
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=) rs1558725033
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=) rs1370889713
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) rs2104595358
NM_001244710.2(GFPT1):c.2056-10_2056-9del rs778019023
NM_001244710.2(GFPT1):c.2056-4G>T
NM_001244710.2(GFPT1):c.2056-9T>G
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
NM_001244710.2(GFPT1):c.224-11A>G
NM_001244710.2(GFPT1):c.224-18T>G
NM_001244710.2(GFPT1):c.224-20T>C
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)
NM_001244710.2(GFPT1):c.33T>C (p.His11=)
NM_001244710.2(GFPT1):c.350-4_350-3del
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=) rs761321362
NM_001244710.2(GFPT1):c.408+11T>C
NM_001244710.2(GFPT1):c.408+12G>C
NM_001244710.2(GFPT1):c.408+12G>T
NM_001244710.2(GFPT1):c.408+14C>T
NM_001244710.2(GFPT1):c.408+9G>A
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) rs1671392979
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
NM_001244710.2(GFPT1):c.544-11T>C
NM_001244710.2(GFPT1):c.544-6C>T
NM_001244710.2(GFPT1):c.597T>C (p.Val199=) rs2104652107
NM_001244710.2(GFPT1):c.606-19C>T
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=) rs2104648039
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=) rs903308197
NM_001244710.2(GFPT1):c.685+18A>G
NM_001244710.2(GFPT1):c.686-12G>A
NM_001244710.2(GFPT1):c.686-15G>A
NM_001244710.2(GFPT1):c.7+11C>T
NM_001244710.2(GFPT1):c.739+19A>G rs1335194019
NM_001244710.2(GFPT1):c.740-20A>G
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)
NM_001244710.2(GFPT1):c.845+13A>G
NM_001244710.2(GFPT1):c.845+15T>G
NM_001244710.2(GFPT1):c.846-13G>A
NM_001244710.2(GFPT1):c.846-17C>G
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)
NM_001244710.2(GFPT1):c.897T>C (p.Val299=) rs2104635977
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
NM_001244710.2(GFPT1):c.957C>T (p.His319=) rs1574060474
NM_001382.4(DPAGT1):c.1006-6C>T rs2134898608
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=) rs1946413563
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) rs1442358846
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=) rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+9G>A rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G rs749879111
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.276C>T (p.His92=) rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.283-13G>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=) rs200885014
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=) rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A rs771175893
NM_001382.4(DPAGT1):c.497-4G>C rs771175893
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del rs750678639
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=) rs2134903738
NM_001382.4(DPAGT1):c.663T>C (p.His221=) rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=) rs1592226752
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=) rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.810C>T (p.His270=) rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=) rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=) rs756625547
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=) rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) rs2134899492
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
NM_033087.4(ALG2):c.1047C>T (p.Pro349=) rs1588618685
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
NM_033087.4(ALG2):c.1110A>C (p.Ser370=) rs369062018
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
NM_033087.4(ALG2):c.1191A>G (p.Lys397=) rs2118997478
NM_033087.4(ALG2):c.1248A>G (p.Val416=) rs1828721761
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
NM_033087.4(ALG2):c.196C>T (p.Leu66=) rs763273127
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
NM_033087.4(ALG2):c.213C>G (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.213C>T (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
NM_033087.4(ALG2):c.258C>T (p.Ala86=) rs1057521308
NM_033087.4(ALG2):c.264C>G (p.Val88=) rs1015050313
NM_033087.4(ALG2):c.264C>T (p.Val88=)
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
NM_033087.4(ALG2):c.315C>T (p.Ala105=) rs1588620487
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.348+10C>A
NM_033087.4(ALG2):c.348+10C>T
NM_033087.4(ALG2):c.348+14G>A rs2119007123
NM_033087.4(ALG2):c.348+18C>T
NM_033087.4(ALG2):c.348+20G>A
NM_033087.4(ALG2):c.348+7C>T
NM_033087.4(ALG2):c.348+8G>C rs1230090169
NM_033087.4(ALG2):c.351G>T (p.Val117=)
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
NM_033087.4(ALG2):c.627C>T (p.Asp209=) rs1187766399
NM_033087.4(ALG2):c.660C>A (p.Val220=)
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
NM_033087.4(ALG2):c.69C>T (p.Asp23=) rs764985375
NM_033087.4(ALG2):c.717T>C (p.Asn239=) rs1588618893
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.75C>G (p.Gly25=) rs1410757499
NM_033087.4(ALG2):c.795C>A (p.Ile265=) rs183416022
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
NM_033087.4(ALG2):c.984C>G (p.Gly328=)

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