NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.358+2T>G
|
rs113681235
|
0.00001
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
NM_000030.3(AGXT):c.525-1G>A
|
rs180177234
|
0.00001
|
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)
|
rs180177246
|
0.00001
|
NM_000030.3(AGXT):c.679_680+2del
|
rs180177255
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NC_000002.11:g.(?_241808273)_(241812476_?)del
|
|
|
NC_000002.11:g.(?_241816944)_(241817059_?)del
|
|
|
NC_000002.11:g.(?_241816944)_(241818248_?)del
|
|
|
NC_000002.11:g.(?_241818121)_(241818248_?)del
|
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1129_1130dup (p.Glu378fs)
|
|
|
NM_000030.3(AGXT):c.1153C>T (p.Gln385Ter)
|
|
|
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.175G>T (p.Glu59Ter)
|
rs767586362
|
|
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)
|
rs180177185
|
|
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)
|
|
|
NM_000030.3(AGXT):c.26_27insA (p.Lys12fs)
|
rs2106427278
|
|
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)
|
rs180177189
|
|
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)
|
rs180177194
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)
|
rs180177198
|
|
NM_000030.3(AGXT):c.324G>A (p.Trp108Ter)
|
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32_33insT (p.Lys12fs)
|
|
|
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
|
rs180177202
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.358+1G>T
|
rs796052067
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)
|
rs121908530
|
|
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter)
|
rs180177225
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.473del (p.Ser158fs)
|
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.508G>C (p.Gly170Arg)
|
|
|
NM_000030.3(AGXT):c.525-2A>G
|
rs1452455390
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.529A>T (p.Lys177Ter)
|
|
|
NM_000030.3(AGXT):c.570del (p.Thr191fs)
|
rs180177240
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.577dup (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
NM_000030.3(AGXT):c.626del (p.Lys209fs)
|
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.665dup (p.Ser223fs)
|
|
|
NM_000030.3(AGXT):c.673A>T (p.Lys225Ter)
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.67C>T (p.Gln23Ter)
|
rs1575707182
|
|
NM_000030.3(AGXT):c.725dup (p.Asp243fs)
|
rs180177257
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
|
rs121908528
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.760_761insT (p.Asp254fs)
|
|
|
NM_000030.3(AGXT):c.776+1G>A
|
rs180177265
|
|
NM_000030.3(AGXT):c.776+1G>C
|
rs180177265
|
|
NM_000030.3(AGXT):c.795del (p.Val266fs)
|
rs2106430885
|
|
NM_000030.3(AGXT):c.823_824del (p.Ser275fs)
|
rs180177273
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
NM_000030.3(AGXT):c.832del (p.Leu278fs)
|
rs2106430919
|
|
NM_000030.3(AGXT):c.841G>T (p.Glu281Ter)
|
rs1575711244
|
|
NM_000030.3(AGXT):c.856delinsCC (p.Asn286fs)
|
|
|
NM_000030.3(AGXT):c.942+1G>A
|
rs180177297
|
|
NM_000030.3(AGXT):c.942+1G>T
|
rs180177297
|
|
NM_000030.3(AGXT):c.960del (p.Val321fs)
|
|
|
NM_000030.3(AGXT):c.971_972del (p.Val324fs)
|
rs180177300
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
NM_000030.3(AGXT):c.983dup (p.Gly329fs)
|
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)
|
rs180177303
|
|