NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer)
|
rs1380136176
|
0.00001
|
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)
|
rs1574066341
|
0.00001
|
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)
|
rs375268742
|
0.00001
|
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)
|
rs1057521151
|
0.00001
|
NM_001382.4(DPAGT1):c.26dup (p.Met9fs)
|
rs768656482
|
0.00001
|
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)
|
rs1555207826
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly)
|
rs387907245
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NC_000002.11:g.(?_69553299)_(69614213_?)del
|
|
|
NC_000002.11:g.(?_69573016)_(69575486_?)del
|
|
|
NC_000002.11:g.(?_69583608)_(69583709_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)del
|
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr)
|
rs1574058076
|
|
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs)
|
rs2104617143
|
|
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
|
|
|
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
|
|
|
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)
|
rs1558773839
|
|
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs)
|
rs1671535986
|
|
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu)
|
rs922548333
|
|
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala)
|
rs387906638
|
|
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys)
|
rs1558761046
|
|
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer)
|
rs1574066599
|
|
NM_001244710.2(GFPT1):c.686-1G>A
|
rs2104647624
|
|
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
|
|
|
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)
|
rs1553390600
|
|
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
|
|
|
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs)
|
rs2104639109
|
|
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs)
|
rs1671813157
|
|
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter)
|
rs2104635880
|
|
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)
|
rs1558749457
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met)
|
rs387907244
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
|
rs1315559074
|
|
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)
|
rs2134919748
|
|
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
|
|
|
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)
|
rs2134901573
|
|
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
|
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)
|
rs730882051
|
|
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)
|
rs730882123
|
|
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)
|
rs1828806340
|
|