NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
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.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.560C>T (p.Ser187Phe)
|
rs180177238
|
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.1084G>A (p.Gly362Ser)
|
rs569643246
|
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.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
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
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
|
|
|
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
|
|
|
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
|
|
|
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
|
|
|
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
|
|
|
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
|
|
|
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
|
rs2058978388
|
|
NM_000030.3(AGXT):c.259del (p.Glu87fs)
|
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
NM_000030.3(AGXT):c.279del (p.Leu94fs)
|
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
|
|
|
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)
|
rs180177193
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)
|
rs1304689724
|
|
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)
|
rs2106427288
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
|
|
|
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
|
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
|
rs747043550
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
|
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
|
rs2058986411
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.423+2T>C
|
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
|
rs1193344118
|
|
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
|
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
|
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
|
rs1400552764
|
|
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
|
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
|
|
|
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
|
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.595+1G>A
|
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
|
|
|
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
|
|
|
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
|
|
|
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
|
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
|
rs180177253
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.681-1G>A
|
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
|
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
|
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
|
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
|
|
|
NM_000030.3(AGXT):c.838del (p.Ala280fs)
|
rs2106430924
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
NM_000030.3(AGXT):c.848del
|
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
|
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|