NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_003560.4(PLA2G6):c.1187-1G>A
|
rs1477656610
|
0.00003
|
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)
|
rs370691849
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_003560.4(PLA2G6):c.1262del (p.Val421fs)
|
rs1282370486
|
0.00002
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
|
rs121908683
|
0.00002
|
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)
|
rs11570607
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)
|
rs139093920
|
0.00002
|
NC_000022.10:g.38522454delG
|
rs587784329
|
0.00001
|
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)
|
rs769000561
|
0.00001
|
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)
|
rs1403125636
|
0.00001
|
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)
|
rs368497893
|
0.00001
|
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)
|
rs200075782
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)
|
rs535486098
|
0.00001
|
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)
|
rs753874848
|
0.00001
|
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)
|
rs587784337
|
0.00001
|
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)
|
rs587784338
|
0.00001
|
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)
|
rs1043378899
|
0.00001
|
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)
|
rs368008077
|
0.00001
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)
|
rs1484455290
|
0.00001
|
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)
|
rs754204295
|
0.00001
|
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys)
|
rs1048444597
|
0.00001
|
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)
|
rs2087135251
|
0.00001
|
NM_003560.4(PLA2G6):c.2035-2A>G
|
rs1602057157
|
0.00001
|
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)
|
rs886039552
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)
|
rs121908685
|
0.00001
|
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)
|
rs121908682
|
0.00001
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
GRCh37/hg19 22q13.1(chr22:38565225-38565434)
|
|
|
NC_000022.10:g.(?_38528818)_(38536196_?)del
|
|
|
NC_000022.10:g.(?_38528818)_(38539315_?)dup
|
|
|
NC_000022.10:g.(?_38535969)_(38536196_?)del
|
|
|
NC_000022.10:g.(?_38565205)_(38565433_?)del
|
|
|
NC_000022.11:g.(?_38132114)_(38135084_?)del
|
|
|
NC_000022.11:g.(?_38169198)_(38169446_?)del
|
|
|
NG_007094.1:g.(45669_45717)_(52301_52349)del
|
|
|
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs)
|
rs797044903
|
|
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg)
|
rs1569263730
|
|
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)
|
rs2145770192
|
|
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)
|
rs587784327
|
|
NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)
|
|
|
NM_003560.4(PLA2G6):c.1125del (p.Val376fs)
|
rs2145753620
|
|
NM_003560.4(PLA2G6):c.1186+1G>A
|
rs761815070
|
|
NM_003560.4(PLA2G6):c.1186+1G>T
|
|
|
NM_003560.4(PLA2G6):c.1213_1214del (p.Leu405fs)
|
|
|
NM_003560.4(PLA2G6):c.1233del (p.Glu412fs)
|
|
|
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
|
|
|
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
|
|
|
NM_003560.4(PLA2G6):c.1349-2A>G
|
rs797045888
|
|
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)
|
rs387906864
|
|
NM_003560.4(PLA2G6):c.1427+2T>C
|
|
|
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)
|
rs1235695530
|
|
NM_003560.4(PLA2G6):c.1460del (p.Gly487fs)
|
|
|
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs)
|
rs2145722213
|
|
NM_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys)
|
rs587784332
|
|
NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter)
|
|
|
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)
|
rs587784333
|
|
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)
|
|
|
NM_003560.4(PLA2G6):c.1524dup (p.Lys509fs)
|
|
|
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)
|
rs1555988204
|
|
NM_003560.4(PLA2G6):c.1592-2A>C
|
rs1465629909
|
|
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)
|
rs121908681
|
|
NM_003560.4(PLA2G6):c.1648del (p.Arg550fs)
|
|
|
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)
|
rs1177564212
|
|
NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter)
|
|
|
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
|
|
|
NM_003560.4(PLA2G6):c.1670dup (p.Pro559fs)
|
|
|
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)
|
rs587784336
|
|
NM_003560.4(PLA2G6):c.1690del (p.Phe563_Leu564insTer)
|
rs2145711022
|
|
NM_003560.4(PLA2G6):c.1743-1G>C
|
rs1555979401
|
|
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
|
|
|
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)
|
rs776713955
|
|
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu)
|
rs1555979298
|
|
NM_003560.4(PLA2G6):c.1798del (p.Arg600fs)
|
|
|
NM_003560.4(PLA2G6):c.1833dup (p.Arg612fs)
|
|
|
NM_003560.4(PLA2G6):c.1880-1G>C
|
rs1025497590
|
|
NM_003560.4(PLA2G6):c.1880-9del
|
rs1569243771
|
|
NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter)
|
|
|
NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter)
|
rs2145683127
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.1915del (p.Ala639fs)
|
|
|
NM_003560.4(PLA2G6):c.1931del (p.Phe644fs)
|
rs1569243565
|
|
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)
|
rs1318351016
|
|
NM_003560.4(PLA2G6):c.196_197del (p.Gln66fs)
|
|
|
NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys)
|
|
|
NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)
|
|
|
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
|
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter)
|
|
|
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu)
|
rs774631197
|
|
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter)
|
rs1556032708
|
|
NM_003560.4(PLA2G6):c.2223_2224del (p.Ala742fs)
|
|
|
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
|
|
|
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter)
|
rs1296348337
|
|
NM_003560.4(PLA2G6):c.2276+1G>A
|
rs1397030516
|
|
NM_003560.4(PLA2G6):c.2276+1G>C
|
|
|
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs)
|
rs587784352
|
|
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)
|
rs775386225
|
|
NM_003560.4(PLA2G6):c.312_313del (p.Glu105fs)
|
|
|
NM_003560.4(PLA2G6):c.319del (p.Leu107fs)
|
rs776376695
|
|
NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile)
|
rs764959600
|
|
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs)
|
rs1216972369
|
|
NM_003560.4(PLA2G6):c.496dup (p.Glu166fs)
|
|
|
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter)
|
rs587784357
|
|
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs)
|
rs2089023572
|
|
NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter)
|
|
|
NM_003560.4(PLA2G6):c.643C>T (p.Gln215Ter)
|
rs2088813126
|
|
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)
|
rs2145803751
|
|
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)
|
rs587784359
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)
|
rs587784361
|
|
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala)
|
rs764286950
|
|
NM_003560.4(PLA2G6):c.801_802dup (p.Ala268fs)
|
|
|
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg)
|
rs587784362
|
|
NM_003560.4(PLA2G6):c.853dup (p.Arg285fs)
|
|
|
NM_003560.4(PLA2G6):c.857_858del (p.Tyr286fs)
|
rs2145780100
|
|
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)
|
rs199935023
|
|
NM_003560.4(PLA2G6):c.[2356G>A;668C>A]
|
|
|
Single allele
|
|
|