ClinVar Miner

List of variants studied for Glycogen storage disease type III by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 881
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HGVS dbSNP
NC_000001.10:g.(?_100314640)_(100390579_?)dup
NC_000001.10:g.(?_100316579)_(100387227_?)dup
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100366308_100367832del
NC_000001.10:g.(?_100381624_100382277del
NC_000001.11:g.(?_99862247)_(99862433_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NM_000642.3(AGL):c.1002G>A (p.Thr334=)
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
NM_000642.3(AGL):c.101G>A (p.Arg34Gln) rs746265668
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706
NM_000642.3(AGL):c.1041dup (p.Val348fs)
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1047T>C (p.Asp349=)
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys) rs557516658
NM_000642.3(AGL):c.1064C>T (p.Thr355Met) rs557516658
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
NM_000642.3(AGL):c.1071C>T (p.Phe357=)
NM_000642.3(AGL):c.1074A>T (p.Ile358=)
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1080T>C (p.His360=)
NM_000642.3(AGL):c.1082+10G>A
NM_000642.3(AGL):c.1082+10G>T
NM_000642.3(AGL):c.1082+3A>G
NM_000642.3(AGL):c.1082+4T>A rs781204563
NM_000642.3(AGL):c.1083-4C>G
NM_000642.3(AGL):c.1083-6C>T
NM_000642.3(AGL):c.108C>T (p.Gly36=) rs374064723
NM_000642.3(AGL):c.1092A>G (p.Pro364=)
NM_000642.3(AGL):c.1102del (p.Glu368fs) rs1553185403
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
NM_000642.3(AGL):c.1140A>G (p.Glu380=)
NM_000642.3(AGL):c.1155G>A (p.Lys385=) rs28730701
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
NM_000642.3(AGL):c.1173T>C (p.Tyr391=)
NM_000642.3(AGL):c.117A>G (p.Leu39=)
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) rs1570433686
NM_000642.3(AGL):c.1182A>G (p.Glu394=) rs749678945
NM_000642.3(AGL):c.1185+15T>C rs17121466
NM_000642.3(AGL):c.1185+8T>A rs202105587
NM_000642.3(AGL):c.1185+8T>C rs202105587
NM_000642.3(AGL):c.1186-3C>G
NM_000642.3(AGL):c.1186-9G>A
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1194T>C (p.Asn398=) rs771739331
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr) rs1336333560
NM_000642.3(AGL):c.1197C>T (p.Cys399=)
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1225C>T (p.Leu409=)
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs) rs1553185474
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala) rs754419745
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
NM_000642.3(AGL):c.1283+13del
NM_000642.3(AGL):c.1283+8A>C rs933362509
NM_000642.3(AGL):c.1284-2A>G
NM_000642.3(AGL):c.1284-4A>G rs372612377
NM_000642.3(AGL):c.1284G>A (p.Arg428=)
NM_000642.3(AGL):c.1299A>G (p.Pro433=)
NM_000642.3(AGL):c.129A>G (p.Ala43=)
NM_000642.3(AGL):c.12T>C (p.Ser4=)
NM_000642.3(AGL):c.1302T>C (p.Phe434=) rs1553185651
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476
NM_000642.3(AGL):c.1359T>C (p.Cys453=)
NM_000642.3(AGL):c.135C>T (p.Thr45=)
NM_000642.3(AGL):c.136G>A (p.Val46Met) rs762935611
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1386A>C (p.Val462=)
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1423+1G>C
NM_000642.3(AGL):c.1423+3A>G rs766117687
NM_000642.3(AGL):c.1424-7T>A
NM_000642.3(AGL):c.1424-8C>T
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1440A>G (p.Leu480=)
NM_000642.3(AGL):c.1455T>C (p.Ile485=)
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
NM_000642.3(AGL):c.1458C>T (p.Cys486=)
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1482C>T (p.Arg494=)
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
NM_000642.3(AGL):c.1524C>T (p.His508=)
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
NM_000642.3(AGL):c.1533dup (p.Tyr512fs) rs776733170
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser) rs1293030648
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
NM_000642.3(AGL):c.1565del (p.Gly522fs) rs1570438459
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser) rs1570438541
NM_000642.3(AGL):c.158del (p.Pro53fs)
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929
NM_000642.3(AGL):c.1611+11del
NM_000642.3(AGL):c.1611+6G>A
NM_000642.3(AGL):c.1611+8A>G
NM_000642.3(AGL):c.1612-5T>C
NM_000642.3(AGL):c.1612-8T>A rs1557762522
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) rs1188310172
NM_000642.3(AGL):c.1615A>G (p.Met539Val) rs764106633
NM_000642.3(AGL):c.1618T>C (p.Leu540=) rs751245907
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
NM_000642.3(AGL):c.1632G>A (p.Arg544=)
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1659A>G (p.Val553=)
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1686T>C (p.Asp562=)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
NM_000642.3(AGL):c.1692del (p.Asp564fs)
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
NM_000642.3(AGL):c.1718_1720dup (p.Ile573dup) rs1553186221
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1735+1_1735+15del
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.1735+9G>A
NM_000642.3(AGL):c.1736-4G>A
NM_000642.3(AGL):c.1740A>G (p.Ala580=)
NM_000642.3(AGL):c.1749A>G (p.Ala583=) rs577669321
NM_000642.3(AGL):c.174T>C (p.Asn58=)
NM_000642.3(AGL):c.1755T>C (p.Asn585=)
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1767G>A (p.Glu589=)
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405
NM_000642.3(AGL):c.1788T>C (p.Tyr596=)
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
NM_000642.3(AGL):c.1842A>G (p.Pro614=) rs1570443640
NM_000642.3(AGL):c.1846A>G (p.Ile616Val) rs371115206
NM_000642.3(AGL):c.1860G>C (p.Leu620=)
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
NM_000642.3(AGL):c.1874C>T (p.Thr625Met) rs147569805
NM_000642.3(AGL):c.1875G>A (p.Thr625=) rs141944878
NM_000642.3(AGL):c.1875G>C (p.Thr625=)
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189
NM_000642.3(AGL):c.188G>A (p.Arg63His)
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg) rs1553186376
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.1899+9C>G
NM_000642.3(AGL):c.18G>A (p.Gln6=)
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1900-10T>C
NM_000642.3(AGL):c.1900-2A>G
NM_000642.3(AGL):c.1900-6T>C rs749096703
NM_000642.3(AGL):c.1900-7C>T
NM_000642.3(AGL):c.1902T>C (p.His634=)
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1911G>A (p.Ala637=) rs778511499
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.1936A>G (p.Ile646Val) rs376666809
NM_000642.3(AGL):c.1939G>A (p.Val647Ile) rs770836797
NM_000642.3(AGL):c.193C>G (p.Leu65Val) rs772086117
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys) rs1229397880
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
NM_000642.3(AGL):c.1950A>C (p.Ala650=) rs776501271
NM_000642.3(AGL):c.1950A>G (p.Ala650=)
NM_000642.3(AGL):c.1971A>T (p.Thr657=)
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129
NM_000642.3(AGL):c.1992G>A (p.Val664=)
NM_000642.3(AGL):c.2001+5G>A rs1553186489
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.2001+8_2001+9delinsCG
NM_000642.3(AGL):c.2004T>C (p.Ile668=)
NM_000642.3(AGL):c.2007A>G (p.Ser669=)
NM_000642.3(AGL):c.2010G>A (p.Val670=)
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
NM_000642.3(AGL):c.2016T>C (p.Ser672=)
NM_000642.3(AGL):c.2022A>G (p.Glu674=)
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln) rs752995564
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_000642.3(AGL):c.2049A>G (p.Glu683=) rs1015495997
NM_000642.3(AGL):c.2051C>T (p.Ala684Val) rs1284824337
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
NM_000642.3(AGL):c.2069G>T (p.Gly690Val) rs749075109
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.3(AGL):c.2082C>T (p.Phe694=)
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2085A>G (p.Gln695=)
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser) rs771211030
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2091C>T (p.Gly697=) rs759619501
NM_000642.3(AGL):c.2094T>C (p.Ile698=)
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
NM_000642.3(AGL):c.2100A>G (p.Ala700=) rs1176932146
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg) rs763281839
NM_000642.3(AGL):c.2144del (p.Lys715fs)
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
NM_000642.3(AGL):c.2157+4A>T rs1178861512
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2158-4T>G
NM_000642.3(AGL):c.2158-8C>G rs1570445543
NM_000642.3(AGL):c.2160G>A (p.Val720=)
NM_000642.3(AGL):c.2163T>C (p.Tyr721=)
NM_000642.3(AGL):c.2172A>G (p.Gln724=) rs1553186596
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
NM_000642.3(AGL):c.2192C>T (p.Ala731Val)
NM_000642.3(AGL):c.2199A>T (p.Thr733=)
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2205C>T (p.His735=)
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser) rs1369361901
NM_000642.3(AGL):c.2211T>G (p.Pro737=)
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.2229T>A (p.Val743=)
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
NM_000642.3(AGL):c.2238A>G (p.Val746=) rs1487514991
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
NM_000642.3(AGL):c.2241T>C (p.Ser747=) rs754816668
NM_000642.3(AGL):c.2241T>G (p.Ser747=)
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.224A>G (p.Asp75Gly) rs142368729
NM_000642.3(AGL):c.2259T>C (p.Asn753=)
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.2271A>T (p.Ser757=)
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
NM_000642.3(AGL):c.2280C>T (p.Ser760=) rs373513564
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
NM_000642.3(AGL):c.2308+10T>G
NM_000642.3(AGL):c.2308+4A>G rs773741361
NM_000642.3(AGL):c.2308+8A>C
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2309-2A>G
NM_000642.3(AGL):c.2309-8A>G
NM_000642.3(AGL):c.2310C>T (p.Gly770=) rs1570450663
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu) rs1237999305
NM_000642.3(AGL):c.2319A>G (p.Glu773=) rs1570450735
NM_000642.3(AGL):c.231T>C (p.Ser77=)
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171
NM_000642.3(AGL):c.2346del (p.Ile782fs)
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
NM_000642.3(AGL):c.2358G>A (p.Thr786=)
NM_000642.3(AGL):c.2358G>T (p.Thr786=)
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
NM_000642.3(AGL):c.2364T>C (p.Pro788=) rs1368630389
NM_000642.3(AGL):c.2367T>C (p.Tyr789=)
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) rs1206517501
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys) rs1284127927
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly) rs778492877
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2433+9G>A
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala) rs1316494416
NM_000642.3(AGL):c.2442A>G (p.Glu814=)
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala) rs752820851
NM_000642.3(AGL):c.2466A>T (p.Gly822=)
NM_000642.3(AGL):c.246A>G (p.Lys82=) rs1422529746
NM_000642.3(AGL):c.2481G>C (p.Gly827=) rs1323938645
NM_000642.3(AGL):c.2484C>T (p.Pro828=) rs1570451390
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys) rs757870729
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys) rs781573434
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
NM_000642.3(AGL):c.2546+10T>C rs74551473
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.255G>A (p.Leu85=)
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
NM_000642.3(AGL):c.2562A>G (p.Pro854=)
NM_000642.3(AGL):c.2565T>C (p.His855=)
NM_000642.3(AGL):c.2568A>T (p.Ala856=)
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867
NM_000642.3(AGL):c.2574C>T (p.Val858=) rs772038934
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
NM_000642.3(AGL):c.25A>G (p.Ile9Val) rs1263396578
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu) rs750932668
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg) rs146049603
NM_000642.3(AGL):c.2637A>G (p.Leu879=)
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly) rs867149434
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser) rs777738895
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
NM_000642.3(AGL):c.2681+1G>A rs201201443
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.2682-7T>C rs375256646
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser) rs757076841
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet) rs1288036533
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) rs1239498701
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
NM_000642.3(AGL):c.2763G>C (p.Gly921=) rs765549237
NM_000642.3(AGL):c.2769T>C (p.Tyr923=)
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2793del (p.Lys932fs)
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.2802A>G (p.Ala934=)
NM_000642.3(AGL):c.2812+11G>A rs555929
NM_000642.3(AGL):c.2812+7A>G
NM_000642.3(AGL):c.2812+9A>G
NM_000642.3(AGL):c.2814T>C (p.Gly938=) rs147590282
NM_000642.3(AGL):c.2814T>G (p.Gly938=) rs147590282
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
NM_000642.3(AGL):c.2823T>C (p.Ser941=) rs1570463461
NM_000642.3(AGL):c.2823dup (p.Val942fs)
NM_000642.3(AGL):c.2832A>T (p.Ala944=) rs1570463525
NM_000642.3(AGL):c.2835A>G (p.Glu945=)
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly) rs1447342458
NM_000642.3(AGL):c.2904C>T (p.Asp968=)
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
NM_000642.3(AGL):c.2909T>C (p.Val970Ala) rs1570463733
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.292G>A (p.Gly98Arg) rs1557746870
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.293+3A>G rs375459662
NM_000642.3(AGL):c.293+7C>G
NM_000642.3(AGL):c.293+8A>T
NM_000642.3(AGL):c.293+9G>C
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.294-6C>T
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr) rs781463740
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2949+6T>C
NM_000642.3(AGL):c.2949+8G>C
NM_000642.3(AGL):c.2950-5T>G rs760229683
NM_000642.3(AGL):c.2950-9T>C
NM_000642.3(AGL):c.2950G>A (p.Val984Ile) rs1160721945
NM_000642.3(AGL):c.2955T>C (p.Gly985=) rs1383175689
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
NM_000642.3(AGL):c.2963del (p.Leu988fs)
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.2967G>A (p.Gln989=)
NM_000642.3(AGL):c.297T>C (p.Asn99=)
NM_000642.3(AGL):c.2983C>T (p.Leu995=)
NM_000642.3(AGL):c.2991G>A (p.Gln997=) rs1570464401
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3012A>G (p.Pro1004=)
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val) rs200129247
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
NM_000642.3(AGL):c.3042A>G (p.Ala1014=)
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr) rs1570464667
NM_000642.3(AGL):c.3083+6_3083+9dup
NM_000642.3(AGL):c.3083+8C>A
NM_000642.3(AGL):c.3084-5T>G
NM_000642.3(AGL):c.3084-5dup
NM_000642.3(AGL):c.3084-8T>C rs186402161
NM_000642.3(AGL):c.3087T>C (p.Phe1029=)
NM_000642.3(AGL):c.30A>T (p.Leu10Phe) rs746137555
NM_000642.3(AGL):c.310G>A (p.Gly104Arg) rs745610775
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
NM_000642.3(AGL):c.3123A>G (p.Ser1041=)
NM_000642.3(AGL):c.3124T>C (p.Leu1042=)
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys) rs1422201126
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu) rs747339245
NM_000642.3(AGL):c.3141G>T (p.Leu1047=) rs756930451
NM_000642.3(AGL):c.3147A>G (p.Gly1049=)
NM_000642.3(AGL):c.3150A>G (p.Val1050=)
NM_000642.3(AGL):c.3162T>C (p.Pro1054=)
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val) rs774124715
NM_000642.3(AGL):c.3171A>C (p.Pro1057=)
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
NM_000642.3(AGL):c.3186C>T (p.Ala1062=)
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398
NM_000642.3(AGL):c.3198A>G (p.Val1066=)
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer) rs1553188832
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
NM_000642.3(AGL):c.3213T>C (p.Asn1071=)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) rs1553188849
NM_000642.3(AGL):c.3237A>G (p.Gln1079=) rs757615870
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr) rs147375385
NM_000642.3(AGL):c.3252A>G (p.Leu1084=)
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
NM_000642.3(AGL):c.3260-19G>A rs140333425
NM_000642.3(AGL):c.3260-6T>G
NM_000642.3(AGL):c.3260-9T>C
NM_000642.3(AGL):c.3276T>C (p.Ser1092=)
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr) rs1316336745
NM_000642.3(AGL):c.3279T>C (p.Ser1093=)
NM_000642.3(AGL):c.3279T>G (p.Ser1093=)
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu) rs762157090
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
NM_000642.3(AGL):c.328del (p.Asp110fs)
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) rs786204490
NM_000642.3(AGL):c.3300A>C (p.Gly1100=)
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
NM_000642.3(AGL):c.3331C>T (p.Leu1111=)
NM_000642.3(AGL):c.333C>T (p.Pro111=)
NM_000642.3(AGL):c.3342T>C (p.Thr1114=)
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu) rs746779518
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3351T>C (p.Tyr1117=)
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly) rs1233797859
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+5G>T
NM_000642.3(AGL):c.3362+9G>A rs747485058
NM_000642.3(AGL):c.3363-8del
NM_000642.3(AGL):c.3375A>G (p.Leu1125=)
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) rs1225426505
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
NM_000642.3(AGL):c.3399T>C (p.His1133=)
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser) rs146615251
NM_000642.3(AGL):c.3405C>T (p.Leu1135=) rs1553190279
NM_000642.3(AGL):c.340C>T (p.Arg114Cys) rs760763834
NM_000642.3(AGL):c.3411T>A (p.Pro1137=) rs1185628017
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg) rs1281040074
NM_000642.3(AGL):c.3418C>T (p.Leu1140=)
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360
NM_000642.3(AGL):c.341G>C (p.Arg114Pro) rs150146360
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
NM_000642.3(AGL):c.3477G>C (p.Gln1159His) rs1570482572
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser) rs1570482637
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
NM_000642.3(AGL):c.3531C>T (p.Cys1177=)
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe) rs1553190315
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu) rs374498927
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile) rs148930543
NM_000642.3(AGL):c.3588+10T>C rs761455023
NM_000642.3(AGL):c.3589-3C>G
NM_000642.3(AGL):c.3589-7C>T
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr) rs777686689
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
NM_000642.3(AGL):c.3633C>T (p.His1211=)
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) rs772774189
NM_000642.3(AGL):c.365T>C (p.Leu122Pro) rs1557747438
NM_000642.3(AGL):c.3666T>C (p.Ala1222=)
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser) rs1417784168
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3682C>A (p.Arg1228=)
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln) rs147214287
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg) rs750507211
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875
NM_000642.3(AGL):c.3700+6G>A
NM_000642.3(AGL):c.3700+9C>T
NM_000642.3(AGL):c.3705T>C (p.Phe1235=)
NM_000642.3(AGL):c.372G>A (p.Leu124=)
NM_000642.3(AGL):c.3738A>C (p.Gly1246=)
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe) rs1198709856
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718
NM_000642.3(AGL):c.3765T>C (p.Asn1255=)
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
NM_000642.3(AGL):c.3774A>G (p.Thr1258=)
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) rs143885684
NM_000642.3(AGL):c.3836+3A>G rs372921189
NM_000642.3(AGL):c.3836+4G>A rs1488570554
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu) rs778956378
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.384T>C (p.Thr128=) rs1571227820
NM_000642.3(AGL):c.3858T>C (p.Ile1286=)
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
NM_000642.3(AGL):c.385C>T (p.Leu129Phe) rs749109793
NM_000642.3(AGL):c.3879T>C (p.Ala1293=)
NM_000642.3(AGL):c.3882T>A (p.Val1294=) rs1570508414
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly) rs1238498134
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys) rs1570508523
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
NM_000642.3(AGL):c.3918C>T (p.Phe1306=)
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
NM_000642.3(AGL):c.3924T>C (p.Tyr1308=)
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly) rs1557789904
NM_000642.3(AGL):c.393A>G (p.Thr131=)
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
NM_000642.3(AGL):c.3972T>C (p.Tyr1324=) rs768746665
NM_000642.3(AGL):c.3975T>C (p.Asp1325=)
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
NM_000642.3(AGL):c.3978G>A (p.Glu1326=)
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4002C>T (p.Asn1334=)
NM_000642.3(AGL):c.4014A>G (p.Leu1338=)
NM_000642.3(AGL):c.4026C>T (p.Ser1342=)
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4053G>A (p.Lys1351=) rs1570511119
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp) rs1361507097
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
NM_000642.3(AGL):c.4098T>C (p.Tyr1366=)
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
NM_000642.3(AGL):c.4104T>G (p.Ala1368=)
NM_000642.3(AGL):c.4113T>C (p.Pro1371=)
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4120G>C (p.Asp1374His) rs1553192955
NM_000642.3(AGL):c.4131C>T (p.Leu1377=)
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
NM_000642.3(AGL):c.4146C>T (p.Thr1382=) rs767272437
NM_000642.3(AGL):c.4161+10T>G
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) rs1293077915
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
NM_000642.3(AGL):c.4182A>G (p.Thr1394=) rs756382269
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met) rs1553193234
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4212A>C (p.Ala1404=)
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
NM_000642.3(AGL):c.4221A>G (p.Lys1407=)
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4222T>C (p.Leu1408=)
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser) rs1557792779
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4260-3C>T
NM_000642.3(AGL):c.4260-4G>T rs767426474
NM_000642.3(AGL):c.4260-9A>G
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164
NM_000642.3(AGL):c.4293A>G (p.Ala1431=)
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp) rs146154694
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
NM_000642.3(AGL):c.4308C>T (p.Asn1436=)
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.4344A>C (p.Gly1448=)
NM_000642.3(AGL):c.4344A>T (p.Gly1448=)
NM_000642.3(AGL):c.4347+1G>A rs1553193463
NM_000642.3(AGL):c.4347+1G>C
NM_000642.3(AGL):c.4348-7T>C
NM_000642.3(AGL):c.4348-7T>G
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe) rs766952829
NM_000642.3(AGL):c.4368G>A (p.Gly1456=) rs749989508
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly) rs749209422
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) rs1557794150
NM_000642.3(AGL):c.4389A>G (p.Leu1463=) rs148555004
NM_000642.3(AGL):c.4398C>T (p.Ser1466=) rs865973751
NM_000642.3(AGL):c.4405A>G (p.Met1469Val) rs747171944
NM_000642.3(AGL):c.4410C>T (p.Gly1470=)
NM_000642.3(AGL):c.4413G>A (p.Pro1471=) rs1049817296
NM_000642.3(AGL):c.4419T>C (p.Thr1473=)
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala) rs770178156
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4443T>G (p.Val1481=)
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.4455T>G (p.Leu1485=) rs1297003611
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) rs374651629
NM_000642.3(AGL):c.4464T>C (p.His1488=)
NM_000642.3(AGL):c.4473T>C (p.His1491=) rs1553193527
NM_000642.3(AGL):c.4476T>G (p.Leu1492=)
NM_000642.3(AGL):c.4481+10C>G rs1026785989
NM_000642.3(AGL):c.4481+9T>C
NM_000642.3(AGL):c.4488T>G (p.Pro1496=) rs1570526626
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
NM_000642.3(AGL):c.4503A>G (p.Pro1501=)
NM_000642.3(AGL):c.4506A>G (p.Glu1502=)
NM_000642.3(AGL):c.4521T>C (p.Asn1507=)
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) rs1480850606
NM_000642.3(AGL):c.4527G>A (p.Gln1509=) rs373624039
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
NM_000642.3(AGL):c.4569T>C (p.Ala1523=)
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
NM_000642.3(AGL):c.4572T>G (p.Thr1524=) rs1322602688
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
NM_000642.3(AGL):c.460+7T>C rs1292593653
NM_000642.3(AGL):c.461-4G>A rs769201662
NM_000642.3(AGL):c.467A>G (p.Asn156Ser) rs369767463
NM_000642.3(AGL):c.487T>C (p.Leu163=) rs749851190
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
NM_000642.3(AGL):c.500dup (p.Leu168fs) rs1443902661
NM_000642.3(AGL):c.525del (p.Ala176fs) rs1571232214
NM_000642.3(AGL):c.52C>T (p.Leu18=)
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
NM_000642.3(AGL):c.566A>G (p.Asn189Ser) rs1571232301
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
NM_000642.3(AGL):c.594A>G (p.Gly198=)
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
NM_000642.3(AGL):c.603G>A (p.Val201=)
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.609del (p.Lys203fs) rs1571232404
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
NM_000642.3(AGL):c.615A>G (p.Lys205=) rs1571232440
NM_000642.3(AGL):c.618G>A (p.Lys206=) rs748570736
NM_000642.3(AGL):c.621A>G (p.Glu207=) rs910311069
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554
NM_000642.3(AGL):c.634del (p.Cys212fs)
NM_000642.3(AGL):c.639T>C (p.Ile213=)
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
NM_000642.3(AGL):c.64del (p.Leu22fs) rs1057517057
NM_000642.3(AGL):c.656A>G (p.Asn219Ser) rs893488693
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
NM_000642.3(AGL):c.664+2T>C
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.665-7C>T
NM_000642.3(AGL):c.665-9T>C rs373354556
NM_000642.3(AGL):c.66C>G (p.Leu22=)
NM_000642.3(AGL):c.671del (p.Asn224fs)
NM_000642.3(AGL):c.675T>C (p.Ser225=)
NM_000642.3(AGL):c.681G>C (p.Trp227Cys) rs753914653
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.696A>G (p.Pro232=)
NM_000642.3(AGL):c.69C>T (p.Phe23=) rs1571206197
NM_000642.3(AGL):c.703G>A (p.Ala235Thr) rs1571242911
NM_000642.3(AGL):c.716dup (p.Asn240fs)
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
NM_000642.3(AGL):c.729C>T (p.His243=)
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
NM_000642.3(AGL):c.753C>T (p.Asp251=)
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.754A>G (p.Arg252Gly) rs373804474
NM_000642.3(AGL):c.75T>G (p.Leu25=)
NM_000642.3(AGL):c.762T>C (p.Leu254=)
NM_000642.3(AGL):c.766C>T (p.Arg256Cys) rs757347826
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
NM_000642.3(AGL):c.786A>G (p.Ala262=)
NM_000642.3(AGL):c.78A>G (p.Glu26=) rs143110759
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
NM_000642.3(AGL):c.798C>T (p.Tyr266=)
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
NM_000642.3(AGL):c.841A>G (p.Met281Val) rs185838959
NM_000642.3(AGL):c.846+14G>A rs376827010
NM_000642.3(AGL):c.846+8T>A rs372517543
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.847-8T>C
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.854del (p.Arg285fs) rs1553184620
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.864T>G (p.Ile288Met) rs771965730
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
NM_000642.3(AGL):c.87T>C (p.Tyr29=)
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917
NM_000642.3(AGL):c.885G>C (p.Lys295Asn) rs778977370
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306
NM_000642.3(AGL):c.906C>T (p.Phe302=)
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
NM_000642.3(AGL):c.918C>T (p.Val306=) rs1571243841
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
NM_000642.3(AGL):c.927G>A (p.Ala309=) rs181804327
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646
NM_000642.3(AGL):c.939del (p.Phe313fs) rs760589837
NM_000642.3(AGL):c.93A>G (p.Leu31=) rs757542271
NM_000642.3(AGL):c.942A>G (p.Arg314=)
NM_000642.3(AGL):c.949C>T (p.Leu317Phe) rs1557754822
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489
NM_000642.3(AGL):c.951T>G (p.Leu317=)
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
NM_000642.3(AGL):c.958+10A>G
NM_000642.3(AGL):c.958+1G>A rs1553184657
NM_000642.3(AGL):c.958+1G>T
NM_000642.3(AGL):c.959-18G>A rs634880
NM_000642.3(AGL):c.959-4T>G
NM_000642.3(AGL):c.959-72_965dup rs1553185268
NM_000642.3(AGL):c.959-8T>C
NM_000642.3(AGL):c.966G>A (p.Arg322=)
NM_000642.3(AGL):c.966dup (p.Arg323fs)
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527
NM_000642.3(AGL):c.996C>A (p.His332Gln)

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