NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly)
|
rs149961458
|
0.00140
|
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=)
|
rs143055091
|
0.00129
|
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)
|
rs145480547
|
0.00098
|
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)
|
rs767529359
|
0.00038
|
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=)
|
rs140914046
|
0.00037
|
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln)
|
rs199945820
|
0.00016
|
NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg)
|
rs143679158
|
0.00011
|
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys)
|
rs141599415
|
0.00006
|
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe)
|
rs1475544687
|
0.00001
|
NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met)
|
rs552275264
|
0.00001
|
NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln)
|
rs773674679
|
0.00001
|
NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala)
|
rs756954861
|
0.00001
|
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr)
|
rs1203289728
|
0.00001
|
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu)
|
rs762069191
|
0.00001
|
NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp)
|
rs768770455
|
0.00001
|
GRCh37/hg19 7q11.22(chr7:69848194-70190799)x1
|
|
|
NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
|
|
|
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
|
|
|
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del
|
|
|
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)
|
rs1801086
|
|
NM_003482.4(KMT2D):c.1769dup (p.Met590fs)
|
rs1565819425
|
|
NM_015057.5(MYCBP2):c.5125G>C (p.Gly1709Arg)
|
|
|
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)
|
rs2129556993
|
|
NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup)
|
rs1366255788
|
|
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu)
|
rs771546186
|
|
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
|
|
|
NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr)
|
rs1195381602
|
|
NM_015570.4(AUTS2):c.1203C>T (p.Leu401=)
|
|
|
NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)
|
|
|
NM_015570.4(AUTS2):c.128C>T (p.Thr43Ile)
|
|
|
NM_015570.4(AUTS2):c.1298del (p.Leu433fs)
|
rs1057518198
|
|
NM_015570.4(AUTS2):c.1349_1357dup (p.Ala452_His453insProProAla)
|
|
|
NM_015570.4(AUTS2):c.1354G>A (p.Ala452Thr)
|
|
|
NM_015570.4(AUTS2):c.1468+5G>A
|
rs1789837781
|
|
NM_015570.4(AUTS2):c.146C>T (p.Ala49Val)
|
rs1792274277
|
|
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)
|
rs1057517708
|
|
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)
|
rs869312878
|
|
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter)
|
rs775225727
|
|
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)
|
|
|
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
|
|
|
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)
|
rs1789927813
|
|
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs)
|
rs1585653028
|
|
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
|
|
|
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)
|
rs1563183469
|
|
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)
|
rs1563183492
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)
|
rs1585653240
|
|
NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)
|
|
|
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)
|
rs1383001370
|
|
NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)
|
|
|
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
|
|
|
NM_015570.4(AUTS2):c.1691T>C (p.Phe564Ser)
|
|
|
NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala)
|
rs2129557711
|
|
NM_015570.4(AUTS2):c.1771C>T (p.Pro591Ser)
|
rs778369039
|
|
NM_015570.4(AUTS2):c.1774C>A (p.Pro592Thr)
|
|
|
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
|
|
|
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs)
|
rs1585667374
|
|
NM_015570.4(AUTS2):c.1902+1G>A
|
|
|
NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala)
|
rs1790618973
|
|
NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)
|
|
|
NM_015570.4(AUTS2):c.1913del (p.Pro638fs)
|
rs2129558877
|
|
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)
|
rs2129559195
|
|
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)
|
rs2129067294
|
|
NM_015570.4(AUTS2):c.2005-1G>C
|
|
|
NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)
|
|
|
NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr)
|
rs1483994190
|
|
NM_015570.4(AUTS2):c.2218del (p.His740fs)
|
|
|
NM_015570.4(AUTS2):c.2224+1G>T
|
|
|
NM_015570.4(AUTS2):c.2369A>C (p.His790Pro)
|
|
|
NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)
|
|
|
NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)
|
|
|
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
|
|
|
NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter)
|
rs1554487952
|
|
NM_015570.4(AUTS2):c.2531+1_2531+10del
|
|
|
NM_015570.4(AUTS2):c.2587G>T (p.Val863Leu)
|
rs1791761825
|
|
NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)
|
|
|
NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp)
|
rs534033649
|
|
NM_015570.4(AUTS2):c.2750C>T (p.Pro917Leu)
|
|
|
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
|
|
|
NM_015570.4(AUTS2):c.2867G>A (p.Ser956Asn)
|
|
|
NM_015570.4(AUTS2):c.2877C>G (p.Ser959Arg)
|
|
|
NM_015570.4(AUTS2):c.2891C>T (p.Pro964Leu)
|
|
|
NM_015570.4(AUTS2):c.293C>G (p.Thr98Ser)
|
|
|
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)
|
rs1792258600
|
|
NM_015570.4(AUTS2):c.3001C>G (p.Arg1001Gly)
|
|
|
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)
|
rs543645962
|
|
NM_015570.4(AUTS2):c.3050G>A (p.Gly1017Glu)
|
|
|
NM_015570.4(AUTS2):c.310-100635A>G
|
rs1451461572
|
|
NM_015570.4(AUTS2):c.310-148390G>C
|
rs1787711433
|
|
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
|
|
|
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3390_3401del (p.His1130_Pro1134delinsGln)
|
|
|
NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)
|
|
|
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)
|
|
|
NM_015570.4(AUTS2):c.3518C>T (p.Ala1173Val)
|
|
|
NM_015570.4(AUTS2):c.3520T>A (p.Ser1174Thr)
|
|
|
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)
|
rs1554401434
|
|
NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn)
|
rs1416757959
|
|
NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)
|
|
|
NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys)
|
rs201704456
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
|
|
|
NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)
|
|
|
NM_015570.4(AUTS2):c.401C>T (p.Ser134Phe)
|
|
|
NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)
|
|
|
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
|
|
|
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)
|
rs2129540473
|
|
NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs)
|
rs2129540475
|
|
NM_015570.4(AUTS2):c.603C>T (p.Ser201=)
|
|
|
NM_015570.4(AUTS2):c.624+2202A>G
|
rs2129573053
|
|
NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)
|
|
|
NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)
|
|
|
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val)
|
rs1328605193
|
|
NM_015570.4(AUTS2):c.742+1G>A
|
rs1554464807
|
|
NM_015570.4(AUTS2):c.742_742+3del
|
|
|
NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)
|
|
|
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)
|
rs1585645384
|
|
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs)
|
rs864321694
|
|
NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)
|
|
|
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)
|
rs1585645641
|
|
NM_015570.4(AUTS2):c.916A>G (p.Ile306Val)
|
rs1789667169
|
|
NM_015570.4(AUTS2):c.91G>A (p.Gly31Arg)
|
|
|
NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg)
|
rs1454617445
|
|
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
|
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
|
|
|
Single allele
|
|
|