NM_001244710.2(GFPT1):c.543+285T>C
|
rs6724567
|
0.67625
|
NM_001244710.2(GFPT1):c.7+239T>C
|
rs6738707
|
0.67430
|
NM_001244710.2(GFPT1):c.7+271A>G
|
rs6725340
|
0.66354
|
NM_001244710.2(GFPT1):c.1010-142A>G
|
rs4546050
|
0.66279
|
NM_001244710.2(GFPT1):c.408+107T>G
|
rs6546505
|
0.65886
|
NM_001244710.2(GFPT1):c.605+206C>T
|
rs7579871
|
0.64811
|
NM_001244710.2(GFPT1):c.7+36T>C
|
rs6720415
|
0.57447
|
NM_001244710.2(GFPT1):c.544-207T>C
|
rs13389936
|
0.48926
|
NM_001244710.2(GFPT1):c.8-257C>T
|
rs10203394
|
0.38544
|
NM_001244710.2(GFPT1):c.1325-158A>G
|
rs10164798
|
0.36900
|
NM_001244710.2(GFPT1):c.2056-293T>G
|
rs67218758
|
0.13968
|
NM_001244710.2(GFPT1):c.1725+285T>G
|
rs55885494
|
0.12911
|
NM_001244710.2(GFPT1):c.1726-263G>A
|
rs1004137251
|
0.06980
|
NM_001244710.2(GFPT1):c.544-183G>A
|
rs76252573
|
0.03483
|
NM_001244710.2(GFPT1):c.409-315G>T
|
rs116751403
|
0.02913
|
NM_001244710.2(GFPT1):c.408+97G>A
|
rs73937257
|
0.02428
|
NC_000002.12:g.69387506A>C
|
rs62135767
|
0.02324
|
NM_001244710.2(GFPT1):c.740-252T>A
|
rs116051079
|
0.01336
|
NM_001244710.2(GFPT1):c.1726-288T>C
|
rs139890192
|
0.01306
|
NM_001244710.2(GFPT1):c.2056-23T>C
|
rs80281016
|
0.01301
|
NM_001244710.2(GFPT1):c.8-347G>A
|
rs146059866
|
0.01297
|
NM_001244710.2(GFPT1):c.1105+207G>C
|
rs115653599
|
0.01285
|
NM_001244710.2(GFPT1):c.408+7A>T
|
rs112682152
|
0.01229
|
NM_001244710.2(GFPT1):c.115+234A>G
|
rs140840400
|
0.01167
|
NM_001244710.2(GFPT1):c.1725+128G>T
|
rs60710948
|
0.01046
|
NM_001244710.2(GFPT1):c.223+68dup
|
rs57860122
|
0.00975
|
NC_000002.12:g.69387541T>C
|
rs149239600
|
0.00931
|
NM_001244710.2(GFPT1):c.1204-111C>T
|
rs187053292
|
0.00912
|
NM_001244710.2(GFPT1):c.1482+138A>G
|
rs147508834
|
0.00866
|
NM_001244710.2(GFPT1):c.224-55G>A
|
rs146594314
|
0.00796
|
NM_001244710.2(GFPT1):c.1894-107G>A
|
rs75839634
|
0.00728
|
NM_001244710.2(GFPT1):c.2055+184dup
|
rs61182680
|
0.00643
|
NM_001244710.2(GFPT1):c.224-199G>A
|
rs189513089
|
0.00601
|
NM_001244710.2(GFPT1):c.115+292T>C
|
rs187026414
|
0.00488
|
NM_001244710.2(GFPT1):c.1204-316G>T
|
rs183615424
|
0.00472
|
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=)
|
rs144566433
|
0.00249
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_001244710.2(GFPT1):c.223+5C>T
|
rs200631666
|
0.00021
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=)
|
rs763874345
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)
|
rs922548333
|
0.00001
|
NM_001244710.2(GFPT1):c.501T>G (p.Asp167Glu)
|
rs746801112
|
0.00001
|
NM_001244710.2(GFPT1):c.572G>A (p.Ser191Asn)
|
rs1445774342
|
0.00001
|
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)
|
rs1574066341
|
0.00001
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1009+232_1009+234del
|
rs150762658
|
|
NM_001244710.2(GFPT1):c.1010-226_1010-224del
|
rs67630608
|
|
NM_001244710.2(GFPT1):c.1010-246del
|
rs927368693
|
|
NM_001244710.2(GFPT1):c.1204-146del
|
rs11296709
|
|
NM_001244710.2(GFPT1):c.1204-253_1204-250dup
|
rs58220809
|
|
NM_001244710.2(GFPT1):c.1204-253_1204-251dup
|
rs58220809
|
|
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs)
|
rs1574051096
|
|
NM_001244710.2(GFPT1):c.1265_1268del (p.Phe422fs)
|
rs2104617170
|
|
NM_001244710.2(GFPT1):c.1324+121G>C
|
rs79296658
|
|
NM_001244710.2(GFPT1):c.1324+13del
|
rs113734896
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1482G>C (p.Lys494Asn)
|
rs1670840058
|
|
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp)
|
rs1024585946
|
|
NM_001244710.2(GFPT1):c.1597+125G>A
|
rs72905158
|
|
NM_001244710.2(GFPT1):c.160G>T (p.Ala54Ser)
|
rs1574080766
|
|
NM_001244710.2(GFPT1):c.1726-280_1726-278dup
|
rs10634143
|
|
NM_001244710.2(GFPT1):c.1726-280dup
|
rs10634143
|
|
NM_001244710.2(GFPT1):c.1894-53C>A
|
rs10180609
|
|
NM_001244710.2(GFPT1):c.2056-10C>T
|
rs201931307
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-12_2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.229C>G (p.Gln77Glu)
|
rs143036820
|
|
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
|
|
NM_001244710.2(GFPT1):c.408+30T>C
|
rs67760762
|
|
NM_001244710.2(GFPT1):c.409-10C>T
|
rs1324784114
|
|
NM_001244710.2(GFPT1):c.409-8A>T
|
rs982114887
|
|
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)
|
rs1671392979
|
|
NM_001244710.2(GFPT1):c.543+175C>G
|
rs58791355
|
|
NM_001244710.2(GFPT1):c.544-185del
|
rs67434964
|
|
NM_001244710.2(GFPT1):c.544-186_544-185del
|
rs67434964
|
|
NM_001244710.2(GFPT1):c.544-199dup
|
rs67434964
|
|
NM_001244710.2(GFPT1):c.544-244C>T
|
rs186755099
|
|
NM_001244710.2(GFPT1):c.606-157dup
|
rs61401084
|
|
NM_001244710.2(GFPT1):c.606-8A>G
|
rs2104648140
|
|
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
|
rs2104648108
|
|
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)
|
rs1553390600
|
|
NM_001244710.2(GFPT1):c.8-218dup
|
rs5831970
|
|
NM_001244710.2(GFPT1):c.961G>A (p.Gly321Arg)
|
|
|
NM_002056.4(GFPT1):c.476T>C (p.Met159Thr)
|
rs2104655697
|
|