ClinVar Miner

List of variants studied for Glycogen storage disease type III

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1110
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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_000001.10:g.100330092T>A rs794729208
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_000642.2(AGL):c.-134C>G rs548243205
NM_000642.2(AGL):c.-208C>T rs563389574
NM_000642.2(AGL):c.84delG (p.Tyr29Metfs) rs1553183148
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.*1028C>T rs3766601
NM_000642.3(AGL):c.*1047A>T rs886044930
NM_000642.3(AGL):c.*105T>C rs886044924
NM_000642.3(AGL):c.*1075T>A rs886044931
NM_000642.3(AGL):c.*1103A>G
NM_000642.3(AGL):c.*1224C>T
NM_000642.3(AGL):c.*1244T>A rs72963791
NM_000642.3(AGL):c.*1256A>C rs886044932
NM_000642.3(AGL):c.*1296A>C rs1804809
NM_000642.3(AGL):c.*1359A>G
NM_000642.3(AGL):c.*1541T>C rs3766603
NM_000642.3(AGL):c.*1558T>C
NM_000642.3(AGL):c.*1581G>C
NM_000642.3(AGL):c.*1610T>C
NM_000642.3(AGL):c.*1691A>G rs886044933
NM_000642.3(AGL):c.*1720A>C
NM_000642.3(AGL):c.*1766G>A
NM_000642.3(AGL):c.*1817G>A
NM_000642.3(AGL):c.*1860G>T
NM_000642.3(AGL):c.*1952C>T rs886044934
NM_000642.3(AGL):c.*1971T>C
NM_000642.3(AGL):c.*1T>A
NM_000642.3(AGL):c.*2058G>A
NM_000642.3(AGL):c.*2060T>C
NM_000642.3(AGL):c.*2160C>T rs753401733
NM_000642.3(AGL):c.*229A>G
NM_000642.3(AGL):c.*257C>A
NM_000642.3(AGL):c.*272G>T rs1804808
NM_000642.3(AGL):c.*292A>G rs541731841
NM_000642.3(AGL):c.*395C>T rs886044925
NM_000642.3(AGL):c.*400T>C
NM_000642.3(AGL):c.*562del rs886044926
NM_000642.3(AGL):c.*564T>C rs552782825
NM_000642.3(AGL):c.*575G>T rs60880558
NM_000642.3(AGL):c.*595A>G
NM_000642.3(AGL):c.*604A>G
NM_000642.3(AGL):c.*615A>G
NM_000642.3(AGL):c.*670A>G rs886044927
NM_000642.3(AGL):c.*680T>A rs886044928
NM_000642.3(AGL):c.*682A>G
NM_000642.3(AGL):c.*698A>G
NM_000642.3(AGL):c.*732C>T rs3766600
NM_000642.3(AGL):c.*739A>G rs41285742
NM_000642.3(AGL):c.*794A>G rs886044929
NM_000642.3(AGL):c.*832G>A rs181486858
NM_000642.3(AGL):c.*83C>G
NM_000642.3(AGL):c.*99del rs886044923
NM_000642.3(AGL):c.-104C>T
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.-82A>G
NM_000642.3(AGL):c.-95A>G
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.1020del (p.Glu340fs)
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
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+1G>C rs751112302
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.1110C>A (p.Cys370Ter)
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
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.1159C>T (p.Arg387Ter) rs1553185418
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) rs1057516741
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+1G>A rs1057516948
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.121G>T (p.Gly41Ter) rs1553183178
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.1263A>G (p.Arg421=)
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.1283+13del
NM_000642.3(AGL):c.1283+8A>C rs933362509
NM_000642.3(AGL):c.1284-12A>C rs886044918
NM_000642.3(AGL):c.1284-2A>G
NM_000642.3(AGL):c.1284-4A>G rs372612377
NM_000642.3(AGL):c.1284-4A>T
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.1326A>G (p.Glu442=) rs886044919
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.1391dup (p.Asp465fs) rs786204616
NM_000642.3(AGL):c.1400del (p.Pro467fs) rs1057516913
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) rs1057517347
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
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.1424-44A>G rs2291638
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.1497_1500dup (p.Asp501fs)
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.1536_1545del (p.Lys511_Tyr512insTer) rs1553185883
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.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.158del (p.Pro53fs)
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) rs1057516570
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.1612-1G>A
NM_000642.3(AGL):c.1612-1G>C rs1327892944
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.1649T>G (p.Leu550Ter)
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.1727T>G (p.Leu576Ter)
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
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.1782C>A (p.Tyr594Ter) rs1057516563
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405
NM_000642.3(AGL):c.1788T>C (p.Tyr596=)
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
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.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
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.1890T>A (p.Cys630Ter)
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.1900-13T>A rs533280246
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.1913ATG[3] (p.Asp639dup) rs1553186447
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+2T>C rs1057516708
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.2002-5T>A
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.2011_2012del (p.Val671fs) rs1057516666
NM_000642.3(AGL):c.2016T>C (p.Ser672=)
NM_000642.3(AGL):c.2022A>G (p.Glu674=)
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454
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.2083C>T (p.Gln695Ter) rs1570445130
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.2120_2121del (p.Lys707fs) rs1553186577
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.219AGA[1] (p.Glu74del) rs1553183207
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.2223_2224del (p.Gln741fs) rs1553186613
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.223_224del (p.Glu74_Asp75insTer) rs767346840
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.2278del (p.Ser760fs) rs1057517136
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.2318AAG[1] (p.Glu774del) rs766308910
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.2399dup (p.Asp801fs)
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+1G>A
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.2457_2460del (p.Gln820fs) rs1553187237
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.2497C>T (p.Gln833Ter)
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
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.2525del (p.Pro842fs) rs1057517425
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
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.2569C>T (p.Gln857Ter)
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.2605C>T (p.Gln869Ter) rs1057516254
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.2682-2A>G rs1185321132
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.2717_2721del (p.Gln906fs) rs1553187957
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.2738C>A (p.Ser913Ter)
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.276del (p.Gln92fs) rs1057517243
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.2894G>A (p.Trp965Ter)
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
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.2905T>C (p.Tyr969His)
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) rs1553188559
NM_000642.3(AGL):c.2909T>C (p.Val970Ala) rs1570463733
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
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.294-1G>C rs757967016
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+2T>A rs750492389
NM_000642.3(AGL):c.2949+2T>C rs750492389
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2949+5G>A
NM_000642.3(AGL):c.2949+6T>C
NM_000642.3(AGL):c.2949+8G>C
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.2950-21T>A rs2035961
NM_000642.3(AGL):c.2950-2A>C rs770438130
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.2975TCT[1] (p.Phe993del) rs1553188647
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.2996del (p.Pro999fs)
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+2T>C rs1057516952
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
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.3155A>G (p.Lys1052Arg)
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.3191_3193dup (p.Asp1065_Val1066insVal) rs1553188824
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.3214G>T (p.Glu1072Ter)
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.3259+37G>A rs594249
NM_000642.3(AGL):c.3259+3A>T rs748859491
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.3350dup (p.Tyr1117Ter) rs1432024176
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.3362G>A (p.Arg1121Lys)
NM_000642.3(AGL):c.3363-1G>A rs1057516513
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.3439A>T (p.Arg1147Ter)
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) rs1057517079
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3444C>G (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.3480T>A (p.Cys1160Ter)
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3481_3589-407del
NM_000642.3(AGL):c.348_373del (p.Ala117fs) rs1057516308
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
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.3538del (p.Ser1180fs) rs1553190316
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.3569C>G (p.Pro1190Arg)
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.3589-14T>G rs886044920
NM_000642.3(AGL):c.3589-1G>A rs1289339080
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.3636G>A (p.Met1212Ile) rs1570487362
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
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.3674_3696del (p.Gln1225fs) rs1553190751
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
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.368C>T (p.Pro123Leu)
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.3718G>T (p.Gly1240Ter)
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.378T>A (p.Cys126Ter) rs1553183359
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) rs1057517017
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.3835A>T (p.Arg1279Ter)
NM_000642.3(AGL):c.3836+1G>A rs780883601
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
NM_000642.3(AGL):c.3836+3A>G rs372921189
NM_000642.3(AGL):c.3836+45G>A rs2274570
NM_000642.3(AGL):c.3836+4G>A rs1488570554
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu) rs778956378
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
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.3895G>T (p.Glu1299Ter)
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
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.3941_3949+12del rs1553192718
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.3G>C (p.Met1Ile) rs1553181400
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.4037C>T (p.Ser1346Leu) rs1553192908
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
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.4126C>T (p.Gln1376Ter)
NM_000642.3(AGL):c.412G>A (p.Gly138Arg)
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.4175_4176del (p.Phe1392fs) rs1057517405
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.4189G>A (p.Ala1397Thr) rs375755924
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.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met) rs1553193234
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
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.4232C>T (p.Pro1411Leu)
NM_000642.3(AGL):c.4256del (p.Pro1419fs) rs1557792839
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4259+5G>A rs780504025
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.4275T>A (p.Cys1425Ter)
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.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.4323del (p.Gly1442fs) rs1057516994
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.4348-3dup rs886044921
NM_000642.3(AGL):c.4348-7T>C
NM_000642.3(AGL):c.4348-7T>G
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) rs1553193486
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922
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.4371T>G (p.Tyr1457Ter)
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
NM_000642.3(AGL):c.437del (p.Arg146fs) rs1057517344
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.442del (p.Arg148fs) rs1057516397
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.4465_4467del (p.Tyr1489del) rs1553193523
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+1G>C rs1553193529
NM_000642.3(AGL):c.4481+2T>G rs1553193530
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.454G>T (p.Glu152Ter)
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.458C>A (p.Ser153Ter)
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
NM_000642.3(AGL):c.460+1G>A rs930434905
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.515G>C (p.Cys172Ser) rs766234642
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
NM_000642.3(AGL):c.525del (p.Ala176fs) rs1571232214
NM_000642.3(AGL):c.52C>T (p.Leu18=)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
NM_000642.3(AGL):c.566A>G (p.Asn189Ser) rs1571232301
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
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+1G>A rs61811105
NM_000642.3(AGL):c.664+1G>C
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.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.675T>C (p.Ser225=)
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
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.772T>C (p.Ser258Pro) rs886039873
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.805A>G (p.Lys269Glu)
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.82+1G>A rs1354714214
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.83-17_83-16del rs751326594
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
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.867G>A (p.Trp289Ter)
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.921C>A (p.Asn307Lys)
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
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.947_948del (p.Leu316fs)
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+12A>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.991C>T (p.Gln331Ter)
NM_000642.3(AGL):c.996C>A (p.His332Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.