NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)
|
rs142871135
|
0.00015
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)
|
rs948398303
|
0.00012
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)
|
rs536572222
|
0.00008
|
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)
|
rs753866967
|
0.00007
|
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)
|
rs143036820
|
0.00006
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)
|
rs779427303
|
0.00003
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)
|
rs1463544616
|
0.00002
|
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)
|
rs1285177343
|
0.00001
|
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)
|
rs1247230551
|
0.00001
|
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)
|
rs914867145
|
0.00001
|
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)
|
rs759081713
|
0.00001
|
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)
|
rs1438504838
|
0.00001
|
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)
|
rs1279403583
|
0.00001
|
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)
|
rs988021644
|
0.00001
|
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)
|
rs1308915445
|
0.00001
|
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)
|
rs772640415
|
0.00001
|
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)
|
rs368208403
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+3A>G
|
rs937857366
|
0.00001
|
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)
|
rs192925673
|
0.00001
|
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)
|
rs755890938
|
0.00001
|
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)
|
rs987906924
|
0.00001
|
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)
|
rs1034928233
|
0.00001
|
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)
|
rs773850508
|
0.00001
|
NM_001244710.2(GFPT1):c.606-3C>T
|
rs1286081479
|
0.00001
|
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)
|
rs1489383761
|
0.00001
|
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)
|
rs764200601
|
0.00001
|
NC_000002.11:g.(?_69553299)_(69597260_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)dup
|
|
|
NC_000002.11:g.(?_69597123)_(69597250_?)del
|
|
|
NM_001244710.2(GFPT1):c.*22C>T
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
|
|
|
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
|
|
|
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
|
|
|
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
|
|
|
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)
|
rs1670968909
|
|
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)
|
rs1671812593
|
|
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)
|
rs1553388425
|
|
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)
|
rs1553388422
|
|
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)
|
rs1553388418
|
|
NM_001244710.2(GFPT1):c.1204-3C>T
|
rs1307653021
|
|
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)
|
rs1670858310
|
|
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)
|
rs2104617186
|
|
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)
|
rs1287808167
|
|
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
|
|
|
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)
|
rs1558773904
|
|
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
|
|
|
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
|
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)
|
rs1670840972
|
|
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
|
|
|
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)
|
rs1670617199
|
|
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)
|
rs1553386276
|
|
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)
|
rs2104600845
|
|
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)
|
rs1421146245
|
|
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
|
|
|
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
|
|
|
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
|
|
|
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
|
|
|
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)
|
rs2104595615
|
|
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)
|
rs1670547736
|
|
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
|
rs1553385828
|
|
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)
|
rs772026265
|
|
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)
|
rs1574039131
|
|
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)
|
rs2104595457
|
|
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)
|
rs1670545826
|
|
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)
|
rs2104595390
|
|
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)
|
rs1671705543
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)
|
rs1671535131
|
|
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
|
|
|
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
|
|
|
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)
|
rs1553393940
|
|
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
|
|
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
|
|
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)
|
rs1671532532
|
|
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)
|
rs539052842
|
|
NM_001244710.2(GFPT1):c.350-3T>C
|
|
|
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)
|
rs1671414273
|
|
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
|
|
|
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
|
|
|
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
|
|
|
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
|
|
|
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)
|
rs2104655675
|
|
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)
|
rs2104655632
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
|
|
|
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
|
rs370171865
|
|
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
|
|
|
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
|
rs2104648108
|
|
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)
|
rs1671287962
|
|
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
|
|
|
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)
|
rs2104648017
|
|
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
|
|
|
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
|
|
|
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)
|
rs2104647589
|
|
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)
|
rs1164347284
|
|
NM_001244710.2(GFPT1):c.740-11A>G
|
rs769311395
|
|
NM_001244710.2(GFPT1):c.740-8T>C
|
rs2104639173
|
|
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)
|
rs2104639027
|
|
NM_001244710.2(GFPT1):c.845+6C>T
|
rs767647134
|
|
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)
|
rs372840289
|
|
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)
|
rs2104635949
|
|
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)
|
rs1553389515
|
|
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
|
|
|
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)
|
rs1671813015
|
|