|
NM_014112.5(TRPS1):c.-9dup
|
rs35329862
|
0.30691
|
|
NM_014112.5(TRPS1):c.423G>T (p.Pro141=)
|
rs7823278
|
0.13335
|
|
NM_014112.5(TRPS1):c.2700+10T>C
|
rs76046106
|
0.03410
|
|
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=)
|
rs34094363
|
0.01557
|
|
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=)
|
rs34786438
|
0.01390
|
|
NM_014112.5(TRPS1):c.816G>A (p.Glu272=)
|
rs7016652
|
0.00169
|
|
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe)
|
rs147432147
|
0.00163
|
|
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=)
|
rs191525942
|
0.00158
|
|
NM_014112.5(TRPS1):c.2823+15C>A
|
rs201296334
|
0.00143
|
|
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu)
|
rs142784032
|
0.00134
|
|
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser)
|
rs201373462
|
0.00117
|
|
NM_014112.5(TRPS1):c.*2537del
|
rs570702506
|
0.00088
|
|
NM_014112.5(TRPS1):c.2485C>G (p.Pro829Ala)
|
rs78472570
|
0.00088
|
|
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=)
|
rs201030937
|
0.00076
|
|
NM_014112.5(TRPS1):c.1164A>G (p.Ser388=)
|
rs138244006
|
0.00061
|
|
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
|
rs148023627
|
0.00059
|
|
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=)
|
rs199732237
|
0.00056
|
|
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=)
|
rs143724802
|
0.00050
|
|
NM_014112.5(TRPS1):c.2701-13T>C
|
rs748717384
|
0.00050
|
|
NM_014112.5(TRPS1):c.1171A>C (p.Asn391His)
|
rs368184534
|
0.00045
|
|
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg)
|
rs369004633
|
0.00041
|
|
NM_014112.5(TRPS1):c.967-14C>T
|
rs200044397
|
0.00041
|
|
NM_014112.5(TRPS1):c.2701-9_2701-8del
|
rs368655299
|
0.00038
|
|
NM_014112.5(TRPS1):c.*338del
|
rs530055629
|
0.00035
|
|
NM_014112.5(TRPS1):c.2460C>T (p.Thr820=)
|
rs373410728
|
0.00035
|
|
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln)
|
rs199839411
|
0.00034
|
|
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser)
|
rs61745721
|
0.00034
|
|
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile)
|
rs200107935
|
0.00029
|
|
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly)
|
rs201770819
|
0.00026
|
|
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser)
|
rs200964070
|
0.00026
|
|
NM_014112.5(TRPS1):c.2793C>T (p.Asn931=)
|
rs376942817
|
0.00024
|
|
NM_014112.5(TRPS1):c.1008A>G (p.Thr336=)
|
rs749317963
|
0.00019
|
|
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu)
|
rs146506752
|
0.00016
|
|
NM_014112.5(TRPS1):c.515A>G (p.Lys172Arg)
|
rs775998078
|
0.00014
|
|
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala)
|
rs763955674
|
0.00014
|
|
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn)
|
rs34474186
|
0.00013
|
|
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn)
|
rs886062623
|
0.00013
|
|
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile)
|
rs143500511
|
0.00013
|
|
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu)
|
rs201699015
|
0.00013
|
|
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala)
|
rs373510969
|
0.00012
|
|
NM_014112.5(TRPS1):c.1416C>T (p.His472=)
|
rs186297164
|
0.00011
|
|
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=)
|
rs201618790
|
0.00011
|
|
NM_014112.5(TRPS1):c.2796G>A (p.Ala932=)
|
rs539395441
|
0.00011
|
|
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=)
|
rs202158991
|
0.00011
|
|
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=)
|
rs140839419
|
0.00011
|
|
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu)
|
rs200876887
|
0.00011
|
|
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys)
|
rs190186284
|
0.00011
|
|
NM_014112.5(TRPS1):c.-487A>C
|
rs886062633
|
0.00010
|
|
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg)
|
rs202001185
|
0.00010
|
|
NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg)
|
rs201029096
|
0.00009
|
|
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met)
|
rs376875568
|
0.00008
|
|
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=)
|
rs201981301
|
0.00007
|
|
NM_014112.5(TRPS1):c.342G>A (p.Pro114=)
|
rs200131404
|
0.00006
|
|
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met)
|
rs61758125
|
0.00006
|
|
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser)
|
rs369619683
|
0.00005
|
|
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=)
|
rs202162026
|
0.00005
|
|
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)
|
rs749022707
|
0.00004
|
|
NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=)
|
rs369411533
|
0.00004
|
|
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu)
|
rs374209544
|
0.00004
|
|
NM_014112.5(TRPS1):c.*2752_*2754del
|
rs886062612
|
0.00003
|
|
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile)
|
rs774172927
|
0.00003
|
|
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile)
|
rs558232936
|
0.00003
|
|
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=)
|
rs886043582
|
0.00003
|
|
NM_014112.5(TRPS1):c.1843T>C (p.Leu615=)
|
rs372922863
|
0.00003
|
|
NM_014112.5(TRPS1):c.2465C>G (p.Ala822Gly)
|
rs777464547
|
0.00003
|
|
NM_014112.5(TRPS1):c.3148A>T (p.Ile1050Phe)
|
rs181035264
|
0.00003
|
|
NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=)
|
rs565639429
|
0.00003
|
|
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser)
|
rs780885595
|
0.00003
|
|
NM_014112.5(TRPS1):c.890G>A (p.Arg297His)
|
rs376460318
|
0.00003
|
|
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg)
|
rs759189183
|
0.00002
|
|
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr)
|
rs572735161
|
0.00002
|
|
NM_014112.5(TRPS1):c.2240C>A (p.Ser747Tyr)
|
rs867076249
|
0.00002
|
|
NM_014112.5(TRPS1):c.270C>T (p.Ser90=)
|
rs76812525
|
0.00002
|
|
NM_014112.5(TRPS1):c.343C>T (p.His115Tyr)
|
rs748128322
|
0.00002
|
|
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu)
|
rs766826774
|
0.00002
|
|
NM_014112.5(TRPS1):c.-470T>C
|
rs567007790
|
0.00001
|
|
NM_014112.5(TRPS1):c.1239G>A (p.Lys413=)
|
rs568714002
|
0.00001
|
|
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=)
|
rs765625635
|
0.00001
|
|
NM_014112.5(TRPS1):c.1644C>T (p.Ser548=)
|
rs1237070966
|
0.00001
|
|
NM_014112.5(TRPS1):c.1875C>T (p.Val625=)
|
rs752692840
|
0.00001
|
|
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr)
|
rs774019004
|
0.00001
|
|
NM_014112.5(TRPS1):c.2637C>T (p.Leu879=)
|
rs559046751
|
0.00001
|
|
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn)
|
rs1039993281
|
0.00001
|
|
NM_014112.5(TRPS1):c.2706T>C (p.Arg902=)
|
rs754260940
|
0.00001
|
|
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=)
|
rs774932870
|
0.00001
|
|
NM_014112.5(TRPS1):c.3105C>T (p.Val1035=)
|
rs753629655
|
0.00001
|
|
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile)
|
rs368980249
|
0.00001
|
|
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser)
|
rs547426784
|
0.00001
|
|
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=)
|
rs185725906
|
0.00001
|
|
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys)
|
rs1343541017
|
0.00001
|
|
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His)
|
rs1335170890
|
0.00001
|
|
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr)
|
rs570746805
|
0.00001
|
|
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu)
|
rs374893780
|
0.00001
|
|
NM_014112.5(TRPS1):c.846C>T (p.Asn282=)
|
rs369477249
|
0.00001
|
|
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys)
|
rs371442998
|
0.00001
|
|
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val)
|
rs748358474
|
0.00001
|
|
NC_000008.10:g.(?_116426231)_(116635884_?)del
|
|
|
|
NC_000008.10:g.(?_116599208)_(116635864_?)del
|
|
|
|
NC_000008.10:g.(?_116599208)_(116635864_?)dup
|
|
|
|
NC_000008.10:g.(?_116616080)_(116635884_?)dup
|
|
|
|
NC_000008.10:g.(?_116635808)_(116635864_?)del
|
|
|
|
NC_000008.11:g.(?_115586981)_(115587624_?)del
|
|
|
|
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
|
|
|
|
NM_014112.5(TRPS1):c.*1843del
|
rs886062619
|
|
|
NM_014112.5(TRPS1):c.*1983_*1984insG
|
rs886062618
|
|
|
NM_014112.5(TRPS1):c.*2740del
|
rs879823190
|
|
|
NM_014112.5(TRPS1):c.*3538del
|
rs547899966
|
|
|
NM_014112.5(TRPS1):c.*4593AAAGG[1]
|
rs755682849
|
|
|
NM_014112.5(TRPS1):c.*4741del
|
rs886062604
|
|
|
NM_014112.5(TRPS1):c.*4754_*4761dup
|
rs755990611
|
|
|
NM_014112.5(TRPS1):c.*4845ATA[1]
|
rs775143556
|
|
|
NM_014112.5(TRPS1):c.*5300_*5303del
|
rs564851438
|
|
|
NM_014112.5(TRPS1):c.-318CT[13]
|
rs10546472
|
|
|
NM_014112.5(TRPS1):c.-318CT[9]
|
rs10546472
|
|
|
NM_014112.5(TRPS1):c.-320_-319del
|
rs199575103
|
|
|
NM_014112.5(TRPS1):c.-382del
|
rs886062631
|
|
|
NM_014112.5(TRPS1):c.-393_-392dup
|
rs759303878
|
|
|
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs)
|
rs1554596430
|
|
|
NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)
|
|
|
|
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs)
|
rs1563638577
|
|
|
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys)
|
rs1407182463
|
|
|
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
|
|
|
|
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)
|
rs1554596418
|
|
|
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)
|
rs121908430
|
|
|
NM_014112.5(TRPS1):c.105G>A (p.Glu35=)
|
|
|
|
NM_014112.5(TRPS1):c.1074C>T (p.Asn358=)
|
|
|
|
NM_014112.5(TRPS1):c.1083C>A (p.Thr361=)
|
|
|
|
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
|
|
|
|
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)
|
rs1554596393
|
|
|
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter)
|
rs1554596391
|
|
|
NM_014112.5(TRPS1):c.1113C>T (p.His371=)
|
rs2130494267
|
|
|
NM_014112.5(TRPS1):c.1130C>T (p.Ala377Val)
|
|
|
|
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
|
|
|
|
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
|
|
|
|
NM_014112.5(TRPS1):c.1154C>G (p.Ala385Gly)
|
|
|
|
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs)
|
rs1817997640
|
|
|
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
|
rs1554596328
|
|
|
NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)
|
|
|
|
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter)
|
rs1368938675
|
|
|
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
|
|
|
|
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
|
|
|
|
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met)
|
rs1817996176
|
|
|
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
|
|
|
|
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)
|
rs1057518791
|
|
|
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs)
|
rs1554596300
|
|
|
NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)
|
|
|
|
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
|
|
|
|
NM_014112.5(TRPS1):c.1266T>C (p.Thr422=)
|
|
|
|
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=)
|
rs370007078
|
|
|
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
|
|
|
|
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
|
|
|
|
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
|
|
|
|
NM_014112.5(TRPS1):c.1353T>G (p.Phe451Leu)
|
|
|
|
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
|
|
|
|
NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter)
|
rs2130493114
|
|
|
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)
|
rs2130493086
|
|
|
NM_014112.5(TRPS1):c.1395A>G (p.Leu465=)
|
rs1315134646
|
|
|
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs)
|
rs2130493020
|
|
|
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
|
|
|
|
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
|
|
|
|
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
|
|
|
|
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs)
|
rs1817988877
|
|
|
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
|
|
|
|
NM_014112.5(TRPS1):c.1460del (p.Lys487fs)
|
rs1554596193
|
|
|
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs)
|
rs1817986949
|
|
|
NM_014112.5(TRPS1):c.1467C>T (p.Ser489=)
|
|
|
|
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
|
|
|
|
NM_014112.5(TRPS1):c.1505del (p.Ser502fs)
|
rs2130492512
|
|
|
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
|
|
|
|
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
|
|
|
|
NM_014112.5(TRPS1):c.1545G>A (p.Ser515=)
|
|
|
|
NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)
|
|
|
|
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
|
|
|
|
NM_014112.5(TRPS1):c.1584C>T (p.Ala528=)
|
|
|
|
NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)
|
|
|
|
NM_014112.5(TRPS1):c.1587G>A (p.Glu529=)
|
|
|
|
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
|
|
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
|
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs)
|
rs2130491759
|
|
|
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs)
|
rs1554596063
|
|
|
NM_014112.5(TRPS1):c.1650C>A (p.Gly550=)
|
|
|
|
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu)
|
rs2130491714
|
|
|
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
|
|
|
|
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu)
|
rs780734185
|
|
|
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
|
|
|
|
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter)
|
rs755557039
|
|
|
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter)
|
rs864621974
|
|
|
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs)
|
rs1563637033
|
|
|
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
|
|
|
|
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile)
|
rs2130491431
|
|
|
NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)
|
|
|
|
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter)
|
rs2130491235
|
|
|
NM_014112.5(TRPS1):c.177G>A (p.Thr59=)
|
|
|
|
NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)
|
|
|
|
NM_014112.5(TRPS1):c.1784C>T (p.Thr595Ile)
|
|
|
|
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
|
|
|
|
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)
|
rs1817974591
|
|
|
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr)
|
rs780551240
|
|
|
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=)
|
rs751550383
|
|
|
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=)
|
rs751550383
|
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
|
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
|
|
|
|
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)
|
rs1554595930
|
|
|
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
|
|
|
|
NM_014112.5(TRPS1):c.1911del (p.Asp638fs)
|
rs2130490634
|
|
|
NM_014112.5(TRPS1):c.1919_2096+2929del
|
|
|
|
NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)
|
|
|
|
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
|
|
|
|
NM_014112.5(TRPS1):c.1947G>T (p.Val649=)
|
|
|
|
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys)
|
rs1174923595
|
|
|
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
|
|
|
|
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)
|
|
|
|
NM_014112.5(TRPS1):c.1974A>G (p.Lys658=)
|
|
|
|
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
|
|
|
|
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
|
|
|
|
NM_014112.5(TRPS1):c.1992G>A (p.Leu664=)
|
|
|
|
NM_014112.5(TRPS1):c.2000C>T (p.Ser667Leu)
|
|
|
|
NM_014112.5(TRPS1):c.2001G>A (p.Ser667=)
|
rs766238512
|
|
|
NM_014112.5(TRPS1):c.2026A>C (p.Ser676Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
|
|
|
|
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
|
|
|
|
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
|
|
|
|
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
|
|
|
|
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)
|
rs368166434
|
|
|
NM_014112.5(TRPS1):c.2087G>A (p.Arg696Gln)
|
|
|
|
NM_014112.5(TRPS1):c.2090dup (p.His697fs)
|
rs2130489877
|
|
|
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter)
|
rs1554595857
|
|
|
NM_014112.5(TRPS1):c.2096+10G>T
|
|
|
|
NM_014112.5(TRPS1):c.2096+11G>C
|
rs754841326
|
|
|
NM_014112.5(TRPS1):c.2096+1G>A
|
|
|
|
NM_014112.5(TRPS1):c.2097-12C>T
|
|
|
|
NM_014112.5(TRPS1):c.2097-14T>C
|
|
|
|
NM_014112.5(TRPS1):c.2097-2A>C
|
|
|
|
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
|
|
|
|
NM_014112.5(TRPS1):c.2110del (p.Cys704fs)
|
rs1586431903
|
|
|
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
|
|
|
|
NM_014112.5(TRPS1):c.2145C>T (p.Ala715=)
|
|
|
|
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter)
|
rs2130445981
|
|
|
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs)
|
rs1554593099
|
|
|
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter)
|
rs2130445833
|
|
|
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)
|
rs2130445786
|
|
|
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs)
|
rs1554593085
|
|
|
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
|
|
|
|
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
|
|
|
|
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln)
|
rs1207875402
|
|
|
NM_014112.5(TRPS1):c.2282A>G (p.Asn761Ser)
|
|
|
|
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala)
|
rs1817588637
|
|
|
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer)
|
rs2130445285
|
|
|
NM_014112.5(TRPS1):c.2301T>C (p.Ser767=)
|
|
|
|
NM_014112.5(TRPS1):c.2310A>G (p.Gly770=)
|
|
|
|
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs)
|
rs1586431452
|
|
|
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs)
|
rs1554592995
|
|
|
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
|
|
|
|
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
|
|
|
|
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs)
|
rs1554592981
|
|
|
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2409C>T (p.Arg803=)
|
|
|
|
NM_014112.5(TRPS1):c.2437C>T (p.Leu813=)
|
|
|
|
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln)
|
rs146506752
|
|
|
NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)
|
|
|
|
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val)
|
rs763124273
|
|
|
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs)
|
rs2130444636
|
|
|
NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)
|
|
|
|
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter)
|
rs2130444603
|
|
|
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs)
|
rs2130444402
|
|
|
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
|
|
|
|
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
|
|
|
|
NM_014112.5(TRPS1):c.2514G>A (p.Lys838=)
|
|
|
|
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs)
|
rs2130444163
|
|
|
NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)
|
|
|
|
NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)
|
|
|
|
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
|
|
|
|
NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)
|
|
|
|
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
|
|
|
|
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
|
rs121908432
|
|
|
NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)
|
|
|
|
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)
|
|
|
|
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)
|
rs1563623987
|
|
|
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
|
|
|
|
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=)
|
rs1586430909
|
|
|
NM_014112.5(TRPS1):c.2601G>T (p.Gln867His)
|
rs1817576456
|
|
|
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
|
|
|
|
NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)
|
|
|
|
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
|
|
|
|
NM_014112.5(TRPS1):c.2634C>T (p.Ala878=)
|
|
|
|
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
|
|
|
|
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)
|
rs1156330285
|
|
|
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser)
|
rs2130443313
|
|
|
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter)
|
rs142472404
|
|
|
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
|
|
|
|
NM_014112.5(TRPS1):c.2666del (p.Asn889fs)
|
rs1586430715
|
|
|
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala)
|
rs2130443107
|
|
|
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
|
|
|
|
NM_014112.5(TRPS1):c.2700+1G>A
|
rs1586430684
|
|
|
NM_014112.5(TRPS1):c.2700+29A>C
|
rs2293889
|
|
|
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=)
|
rs2130443039
|
|
|
NM_014112.5(TRPS1):c.2719del (p.Val907fs)
|
|
|
|
NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)
|
|
|
|
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs)
|
rs1554617582
|
|
|
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)
|
rs1554617581
|
|
|
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)
|
rs1554617580
|
|
|
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
|
|
|
|
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
|
|
|
|
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro)
|
rs121908433
|
|
|
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
|
|
|
|
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
|
|
|
|
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
|
rs1554617573
|
|
|
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs)
|
rs2129768973
|
|
|
NM_014112.5(TRPS1):c.2757_2758dup (p.Trp920fs)
|
|
|
|
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala)
|
rs1818352045
|
|
|
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
|
rs751565386
|
|
|
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
|
rs121908435
|
|
|
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)
|
rs121908435
|
|
|
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys)
|
rs775374141
|
|
|
NM_014112.5(TRPS1):c.2778C>T (p.Gly926=)
|
|
|
|
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs)
|
rs1554617567
|
|
|
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)
|
rs2129768696
|
|
|
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg)
|
rs1812971696
|
|
|
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly)
|
rs1812971696
|
|
|
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
|
|
|
|
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
|
rs1057518972
|
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
|
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)
|
rs1812971156
|
|
|
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val)
|
rs1554617561
|
|
|
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe)
|
rs1812970992
|
|
|
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
|
|
|
|
NM_014112.5(TRPS1):c.2823+15C>T
|
rs201296334
|
|
|
NM_014112.5(TRPS1):c.2823+19del
|
rs2129768290
|
|
|
NM_014112.5(TRPS1):c.2823+1G>T
|
rs1554617549
|
|
|
NM_014112.5(TRPS1):c.2824-17G>A
|
|
|
|
NM_014112.5(TRPS1):c.2824-18T>C
|
|
|
|
NM_014112.5(TRPS1):c.2824-23T>G
|
rs752405769
|
|
|
NM_014112.5(TRPS1):c.2824-6C>T
|
|
|
|
NM_014112.5(TRPS1):c.2829del (p.Arg944fs)
|
rs2129752164
|
|
|
NM_014112.5(TRPS1):c.2849A>G (p.Lys950Arg)
|
|
|
|
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs)
|
rs1554617078
|
|
|
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
|
|
|
|
NM_014112.5(TRPS1):c.2880del (p.Arg961fs)
|
rs1586250578
|
|
|
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu)
|
rs2129751692
|
|
|
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr)
|
rs1812883227
|
|
|
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs)
|
rs1563714392
|
|
|
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)
|
rs28939069
|
|
|
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)
|
rs28939070
|
|
|
NM_014112.5(TRPS1):c.2895C>A (p.Arg965=)
|
|
|
|
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
|
|
|
|
NM_014112.5(TRPS1):c.2919T>C (p.Ala973=)
|
|
|
|
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs)
|
rs2129751330
|
|
|
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
|
|
|
|
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
|
|
|
|
NM_014112.5(TRPS1):c.294C>T (p.Gly98=)
|
|
|
|
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs)
|
rs1812880824
|
|
|
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
|
|
|
|
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
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NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs)
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rs1554617011
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NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)
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NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
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NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
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NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
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NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
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NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
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NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
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NM_014112.5(TRPS1):c.3062del (p.Gly1021fs)
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rs1812876043
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NM_014112.5(TRPS1):c.3067T>C (p.Leu1023=)
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NM_014112.5(TRPS1):c.3077del (p.Ser1026fs)
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rs1554616971
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NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro)
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rs1286729898
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NM_014112.5(TRPS1):c.3140del (p.Pro1047fs)
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rs1554616950
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NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)
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NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
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NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
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NM_014112.5(TRPS1):c.3187G>A (p.Gly1063Arg)
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NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)
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NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
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NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu)
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rs1206269604
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NM_014112.5(TRPS1):c.3248del (p.Lys1083fs)
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rs2129749121
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NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)
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NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs)
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rs2129748972
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NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)
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rs121908434
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NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
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NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)
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NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser)
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rs1812867470
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NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
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NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
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NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)
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NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs)
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rs2129748003
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NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
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NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
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NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)
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rs1554616802
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NM_014112.5(TRPS1):c.3429C>T (p.His1143=)
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NM_014112.5(TRPS1):c.342G>T (p.Pro114=)
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NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)
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NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
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NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter)
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rs1812863711
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NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)
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NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
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NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
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NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)
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NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)
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rs986339998
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NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
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NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=)
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rs764387571
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NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)
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NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
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NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=)
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rs2129746732
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NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=)
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rs375082372
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NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)
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NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
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NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)
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NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
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NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly)
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rs964024525
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NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly)
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rs2129746312
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NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)
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NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)
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NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp)
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rs2129746217
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NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
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NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
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NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
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NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)
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rs1586249260
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NM_014112.5(TRPS1):c.37+7G>A
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NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
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NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
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NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
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NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
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NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr)
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rs1812855223
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NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)
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NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro)
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rs2129745482
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NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
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NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser)
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rs1234476401
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NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)
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NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)
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NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
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NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)
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NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs)
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rs1401148397
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NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
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NM_014112.5(TRPS1):c.390del (p.Ala131fs)
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NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
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NM_014112.5(TRPS1):c.408G>A (p.Glu136=)
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NM_014112.5(TRPS1):c.414G>A (p.Leu138=)
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NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
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NM_014112.5(TRPS1):c.426A>G (p.Gln142=)
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NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
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NM_014112.5(TRPS1):c.462C>T (p.Cys154=)
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rs1419381053
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NM_014112.5(TRPS1):c.468C>T (p.Pro156=)
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NM_014112.5(TRPS1):c.471A>C (p.Ser157=)
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rs780661100
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NM_014112.5(TRPS1):c.489_492del (p.Glu165fs)
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rs1586464368
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NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
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NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
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NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)
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NM_014112.5(TRPS1):c.525G>A (p.Glu175=)
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rs2130532256
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NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
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NM_014112.5(TRPS1):c.570G>A (p.Leu190=)
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NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
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NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
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NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
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NM_014112.5(TRPS1):c.596del (p.Asn199fs)
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rs2130531960
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NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
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NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs)
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rs2130531887
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NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
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NM_014112.5(TRPS1):c.675G>C (p.Pro225=)
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rs757893991
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NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
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NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
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NM_014112.5(TRPS1):c.72C>T (p.Asn24=)
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NM_014112.5(TRPS1):c.735C>T (p.Tyr245=)
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NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
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NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
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NM_014112.5(TRPS1):c.801del (p.Arg268fs)
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NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu)
|
rs770670680
|
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NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
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NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
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NM_014112.5(TRPS1):c.900T>C (p.Phe300=)
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NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)
|
rs1297221126
|
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NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
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NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
|
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NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
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NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)
|
rs1818358114
|
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NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter)
|
rs2130530613
|
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NM_014112.5(TRPS1):c.967-1G>T
|
rs2130494791
|
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NM_014112.5(TRPS1):c.993C>T (p.Gly331=)
|
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|
inv(8)(q13q24.1)
|
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inv(8)(q21.1q24.1)
|
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