NM_181458.4(PAX3):c.129T>C (p.Gly43=)
|
rs12623857
|
0.84982
|
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)
|
rs2234675
|
0.02573
|
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)
|
rs116473352
|
0.00287
|
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)
|
rs769650688
|
0.00001
|
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)
|
rs1228590199
|
0.00001
|
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)
|
rs587776586
|
|
NM_181458.4(PAX3):c.*175C>T
|
rs780660984
|
|
NM_181458.4(PAX3):c.*3G>C
|
rs1574618272
|
|
NM_181458.4(PAX3):c.1195C>G (p.His399Asp)
|
rs1553568937
|
|
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)
|
rs147111779
|
|
NM_181458.4(PAX3):c.123del (p.Gly42fs)
|
rs2106204266
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)
|
rs369886550
|
|
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)
|
rs1574772091
|
|
NM_181458.4(PAX3):c.136dup (p.Ile46fs)
|
rs1553594009
|
|
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)
|
rs1553568831
|
|
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)
|
rs1419548558
|
|
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)
|
rs1419548558
|
|
NM_181458.4(PAX3):c.143del (p.Gly48fs)
|
rs1695346408
|
|
NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)
|
rs104893650
|
|
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del)
|
rs1553593965
|
|
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)
|
rs1279989885
|
|
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
|
rs267606931
|
|
NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del)
|
rs1559320436
|
|
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)
|
rs2106203892
|
|
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
|
rs1356246522
|
|
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)
|
rs1553593928
|
|
NM_181458.4(PAX3):c.227T>G (p.Leu76Arg)
|
rs1553593925
|
|
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)
|
rs1553593917
|
|
NM_181458.4(PAX3):c.238C>G (p.His80Asp)
|
rs387906947
|
|
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
|
|
|
NM_181458.4(PAX3):c.239A>G (p.His80Arg)
|
rs1574771535
|
|
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)
|
rs483353059
|
|
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)
|
rs483353059
|
|
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)
|
rs777297575
|
|
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)
|
rs104893651
|
|
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)
|
rs1559320299
|
|
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer)
|
rs1695337485
|
|
NM_181458.4(PAX3):c.268_281del (p.Tyr90fs)
|
rs1559320252
|
|
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)
|
rs1553593874
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
NM_181458.4(PAX3):c.281G>T (p.Gly94Val)
|
rs2106203654
|
|
NM_181458.4(PAX3):c.288del (p.Arg97fs)
|
|
|
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu)
|
rs1553593856
|
|
NM_181458.4(PAX3):c.365_369del (p.Lys122fs)
|
rs1559318562
|
|
NM_181458.4(PAX3):c.366_367del (p.Asn125fs)
|
rs2106200406
|
|
NM_181458.4(PAX3):c.372_373del (p.Asn125fs)
|
rs2106200388
|
|
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)
|
rs876661317
|
|
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
|
|
|
NM_181458.4(PAX3):c.452-9C>A
|
rs1379006499
|
|
NM_181458.4(PAX3):c.464del (p.Ser155fs)
|
rs1553592766
|
|
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)
|
rs1553592757
|
|
NM_181458.4(PAX3):c.509C>A (p.Ala170Asp)
|
|
|
NM_181458.4(PAX3):c.524dup (p.Glu176fs)
|
rs1553592713
|
|
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)
|
rs1553592703
|
|
NM_181458.4(PAX3):c.556del (p.His186fs)
|
rs1559316542
|
|
NM_181458.4(PAX3):c.558_559del (p.His186fs)
|
rs1559316535
|
|
NM_181458.4(PAX3):c.586+2T>A
|
rs2106196576
|
|
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
|
|
|
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)
|
rs772241382
|
|
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)
|
rs1692623308
|
|
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
|
|
|
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)
|
rs1553575191
|
|
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)
|
rs2106095147
|
|
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs)
|
rs1553575179
|
|
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)
|
rs1553575183
|
|
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)
|
rs1692619812
|
|
NM_181458.4(PAX3):c.768del (p.Lys257fs)
|
rs2106095025
|
|
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)
|
rs886041319
|
|
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)
|
rs1553575159
|
|
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)
|
rs1553575157
|
|
NM_181458.4(PAX3):c.809G>A (p.Arg270His)
|
|
|
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)
|
rs2106074603
|
|
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)
|
rs1380858784
|
|
NM_181458.4(PAX3):c.812G>A (p.Arg271His)
|
rs774528745
|
|
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys)
|
rs1020175890
|
|
NM_181458.4(PAX3):c.86-2A>G
|
rs1553594069
|
|
NM_181458.4(PAX3):c.879dup (p.Phe294fs)
|
rs1553572967
|
|
NM_181458.4(PAX3):c.921del (p.Ser308fs)
|
rs1553572946
|
|
NM_181458.4(PAX3):c.925dup (p.Glu309fs)
|
rs1692180906
|
|