NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn)
|
rs56173896
|
0.00088
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)
|
rs56007343
|
0.00067
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)
|
rs145196322
|
0.00065
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)
|
rs147067171
|
0.00051
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=)
|
rs2066839
|
0.00049
|
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)
|
rs139123130
|
0.00048
|
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val)
|
rs139498131
|
0.00043
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000264.5(PTCH1):c.1216-6C>A
|
rs186008764
|
0.00027
|
NM_000264.5(PTCH1):c.4218C>T (p.His1406=)
|
rs372558350
|
0.00023
|
NM_000264.5(PTCH1):c.3195C>T (p.Val1065=)
|
rs370936145
|
0.00022
|
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)
|
rs149398794
|
0.00021
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_001083603.3(PTCH1):c.36G>T (p.Val12=)
|
rs200215582
|
0.00021
|
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=)
|
rs577742581
|
0.00020
|
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)
|
rs368417828
|
0.00020
|
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn)
|
rs148367880
|
0.00019
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)
|
rs149547604
|
0.00016
|
NM_000264.5(PTCH1):c.567T>C (p.His189=)
|
rs150759973
|
0.00016
|
NM_000264.5(PTCH1):c.346T>C (p.Leu116=)
|
rs576398790
|
0.00015
|
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)
|
rs138154222
|
0.00014
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)
|
rs149667902
|
0.00014
|
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)
|
rs369882883
|
0.00014
|
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=)
|
rs144512837
|
0.00013
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000264.5(PTCH1):c.3027C>T (p.Tyr1009=)
|
rs747234651
|
0.00012
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=)
|
rs200435277
|
0.00012
|
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu)
|
rs141939274
|
0.00012
|
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)
|
rs138034434
|
0.00011
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=)
|
rs142131559
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000264.5(PTCH1):c.3716G>A (p.Arg1239Gln)
|
rs758728491
|
0.00010
|
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp)
|
rs372027952
|
0.00010
|
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His)
|
rs779365332
|
0.00010
|
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)
|
rs200100952
|
0.00010
|
NM_000264.5(PTCH1):c.1002T>C (p.Tyr334=)
|
rs145867500
|
0.00009
|
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser)
|
rs201174718
|
0.00009
|
NM_000264.5(PTCH1):c.174C>T (p.Ala58=)
|
rs368563182
|
0.00009
|
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=)
|
rs587780702
|
0.00009
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser)
|
rs56161606
|
0.00009
|
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=)
|
rs148471237
|
0.00008
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=)
|
rs144312968
|
0.00008
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000264.5(PTCH1):c.420A>G (p.Leu140=)
|
rs372559495
|
0.00008
|
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)
|
rs201357130
|
0.00008
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)
|
rs767792734
|
0.00007
|
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=)
|
rs139071993
|
0.00007
|
NM_000264.5(PTCH1):c.882C>T (p.Arg294=)
|
rs145893445
|
0.00007
|
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu)
|
rs370755364
|
0.00007
|
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)
|
rs537871675
|
0.00006
|
NM_000264.5(PTCH1):c.1713G>T (p.Arg571=)
|
rs762575636
|
0.00006
|
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn)
|
rs531947455
|
0.00006
|
NM_000264.5(PTCH1):c.3516C>T (p.Pro1172=)
|
rs775292833
|
0.00006
|
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=)
|
rs377608291
|
0.00006
|
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His)
|
rs575146278
|
0.00006
|
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=)
|
rs775499386
|
0.00006
|
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=)
|
rs139086753
|
0.00006
|
NM_000264.5(PTCH1):c.4311C>T (p.Cys1437=)
|
rs368571026
|
0.00006
|
NM_000264.5(PTCH1):c.946-13C>T
|
rs200749389
|
0.00006
|
NM_000264.5(PTCH1):c.1404C>T (p.Ala468=)
|
rs201246004
|
0.00005
|
NM_000264.5(PTCH1):c.2704-10G>A
|
rs566679986
|
0.00005
|
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)
|
rs201118857
|
0.00005
|
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=)
|
rs765072884
|
0.00005
|
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=)
|
rs1161608601
|
0.00005
|
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)
|
rs771238114
|
0.00005
|
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln)
|
rs372686352
|
0.00005
|
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile)
|
rs555332902
|
0.00004
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys)
|
rs764195249
|
0.00004
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=)
|
rs374924167
|
0.00004
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=)
|
rs587780534
|
0.00004
|
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=)
|
rs764854579
|
0.00004
|
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)
|
rs587780699
|
0.00004
|
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=)
|
rs377213209
|
0.00004
|
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)
|
rs769924767
|
0.00004
|
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His)
|
rs143781513
|
0.00004
|
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=)
|
rs369760318
|
0.00004
|
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)
|
rs780515178
|
0.00004
|
NM_000264.5(PTCH1):c.3752C>A (p.Ala1251Asp)
|
rs747739936
|
0.00004
|
NM_000264.5(PTCH1):c.3786C>T (p.Pro1262=)
|
rs756182319
|
0.00004
|
NM_000264.5(PTCH1):c.3840G>A (p.Ser1280=)
|
rs750770371
|
0.00004
|
NM_000264.5(PTCH1):c.3948C>T (p.Tyr1316=)
|
rs778029634
|
0.00004
|
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)
|
rs371761874
|
0.00004
|
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)
|
rs781539921
|
0.00004
|
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=)
|
rs368110756
|
0.00004
|
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=)
|
rs375588552
|
0.00004
|
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=)
|
rs149091602
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=)
|
rs756270271
|
0.00004
|
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=)
|
rs767698482
|
0.00004
|
NM_000264.5(PTCH1):c.588G>A (p.Gln196=)
|
rs775859621
|
0.00004
|
NM_000264.5(PTCH1):c.624G>A (p.Glu208=)
|
rs777231059
|
0.00004
|
NM_000264.5(PTCH1):c.897G>A (p.Pro299=)
|
rs56141639
|
0.00004
|
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=)
|
rs201602238
|
0.00003
|
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=)
|
rs200313703
|
0.00003
|
NM_000264.5(PTCH1):c.1348-4G>A
|
rs772826555
|
0.00003
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
NM_000264.5(PTCH1):c.1473C>T (p.Ile491=)
|
rs768183391
|
0.00003
|
NM_000264.5(PTCH1):c.1608G>A (p.Arg536=)
|
rs747086234
|
0.00003
|
NM_000264.5(PTCH1):c.2751C>T (p.Ser917=)
|
rs768127089
|
0.00003
|
NM_000264.5(PTCH1):c.2850C>T (p.His950=)
|
rs200776583
|
0.00003
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=)
|
rs751797047
|
0.00003
|
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=)
|
rs370906015
|
0.00003
|
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=)
|
rs200347952
|
0.00003
|
NM_000264.5(PTCH1):c.3246C>T (p.Pro1082=)
|
rs750725851
|
0.00003
|
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)
|
rs202052415
|
0.00003
|
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=)
|
rs141016655
|
0.00003
|
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=)
|
rs762637887
|
0.00003
|
NM_000264.5(PTCH1):c.3540A>G (p.Pro1180=)
|
rs930364103
|
0.00003
|
NM_000264.5(PTCH1):c.3616C>T (p.Arg1206Cys)
|
rs772537644
|
0.00003
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
0.00003
|
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser)
|
rs559827048
|
0.00003
|
NM_000264.5(PTCH1):c.3639C>T (p.His1213=)
|
rs761797443
|
0.00003
|
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met)
|
rs200029534
|
0.00003
|
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr)
|
rs369966295
|
0.00003
|
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu)
|
rs767166469
|
0.00003
|
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)
|
rs386833412
|
0.00003
|
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser)
|
rs767625820
|
0.00003
|
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=)
|
rs752595145
|
0.00003
|
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)
|
rs45535032
|
0.00003
|
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln)
|
rs748812637
|
0.00003
|
NM_000264.5(PTCH1):c.4185G>A (p.Gly1395=)
|
rs769616992
|
0.00003
|
NM_000264.5(PTCH1):c.4251C>T (p.His1417=)
|
rs371960721
|
0.00003
|
NM_000264.5(PTCH1):c.543G>A (p.Ser181=)
|
rs1461606997
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.900C>T (p.Ala300=)
|
rs201962105
|
0.00003
|
NM_000264.5(PTCH1):c.930C>T (p.Asn310=)
|
rs768166430
|
0.00003
|
NM_000264.5(PTCH1):c.975T>C (p.Gly325=)
|
rs149018937
|
0.00003
|
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu)
|
rs1060502279
|
0.00002
|
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)
|
rs779294007
|
0.00002
|
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg)
|
rs757579309
|
0.00002
|
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn)
|
rs764579762
|
0.00002
|
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=)
|
rs150837425
|
0.00002
|
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met)
|
rs759493890
|
0.00002
|
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=)
|
rs373930674
|
0.00002
|
NM_000264.5(PTCH1):c.1551T>C (p.Leu517=)
|
rs983687905
|
0.00002
|
NM_000264.5(PTCH1):c.1593C>T (p.Ile531=)
|
rs587780694
|
0.00002
|
NM_000264.5(PTCH1):c.1629C>T (p.Arg543=)
|
rs557468315
|
0.00002
|
NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp)
|
rs751511116
|
0.00002
|
NM_000264.5(PTCH1):c.237G>A (p.Leu79=)
|
rs547602299
|
0.00002
|
NM_000264.5(PTCH1):c.2610A>C (p.Pro870=)
|
rs762087413
|
0.00002
|
NM_000264.5(PTCH1):c.2793C>T (p.Pro931=)
|
rs1162747889
|
0.00002
|
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=)
|
rs142362404
|
0.00002
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser)
|
rs752317944
|
0.00002
|
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)
|
rs760902564
|
0.00002
|
NM_000264.5(PTCH1):c.3159C>T (p.Ala1053=)
|
rs780700622
|
0.00002
|
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=)
|
rs878853854
|
0.00002
|
NM_000264.5(PTCH1):c.3222C>T (p.Ile1074=)
|
rs749448606
|
0.00002
|
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met)
|
rs566619057
|
0.00002
|
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=)
|
rs778900289
|
0.00002
|
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His)
|
rs367784268
|
0.00002
|
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met)
|
rs370675945
|
0.00002
|
NM_000264.5(PTCH1):c.3621C>T (p.Phe1207=)
|
rs778335980
|
0.00002
|
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser)
|
rs139495263
|
0.00002
|
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=)
|
rs143974523
|
0.00002
|
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg)
|
rs768986314
|
0.00002
|
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys)
|
rs779417284
|
0.00002
|
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=)
|
rs772544302
|
0.00002
|
NM_000264.5(PTCH1):c.382C>T (p.Leu128=)
|
rs772674190
|
0.00002
|
NM_000264.5(PTCH1):c.3846G>A (p.Pro1282=)
|
rs754412168
|
0.00002
|
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)
|
rs746339472
|
0.00002
|
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)
|
rs368528885
|
0.00002
|
NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=)
|
rs539319573
|
0.00002
|
NM_000264.5(PTCH1):c.3996C>T (p.Gly1332=)
|
rs1343640252
|
0.00002
|
NM_000264.5(PTCH1):c.4026C>T (p.Arg1342=)
|
rs576944494
|
0.00002
|
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)
|
rs766315655
|
0.00002
|
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met)
|
rs753535745
|
0.00002
|
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu)
|
rs571030658
|
0.00002
|
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)
|
rs146447673
|
0.00002
|
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln)
|
rs773676486
|
0.00002
|
NM_000264.5(PTCH1):c.4176C>T (p.Asn1392=)
|
rs770479209
|
0.00002
|
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala)
|
rs201873008
|
0.00002
|
NM_000264.5(PTCH1):c.4274C>T (p.Ser1425Leu)
|
rs587778630
|
0.00002
|
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)
|
rs150696398
|
0.00002
|
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)
|
rs767601899
|
0.00002
|
NM_000264.5(PTCH1):c.924C>A (p.Ala308=)
|
rs765750044
|
0.00002
|
NM_000264.5(PTCH1):c.946-13del
|
rs777246500
|
0.00002
|
NM_000264.5(PTCH1):c.955A>G (p.Met319Val)
|
rs1438545679
|
0.00002
|
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=)
|
rs748171767
|
0.00001
|
NM_000264.5(PTCH1):c.1068-9G>A
|
rs863224344
|
0.00001
|
NM_000264.5(PTCH1):c.1068C>T (p.Ser356=)
|
rs1051875027
|
0.00001
|
NM_000264.5(PTCH1):c.1083G>A (p.Gln361=)
|
rs1554699269
|
0.00001
|
NM_000264.5(PTCH1):c.1086C>T (p.Thr362=)
|
rs777969745
|
0.00001
|
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=)
|
rs758977865
|
0.00001
|
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=)
|
rs587780690
|
0.00001
|
NM_000264.5(PTCH1):c.1146C>T (p.Val382=)
|
rs761718160
|
0.00001
|
NM_000264.5(PTCH1):c.1176G>A (p.Ala392=)
|
rs878853844
|
0.00001
|
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)
|
rs199476091
|
0.00001
|
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=)
|
rs1234871751
|
0.00001
|
NM_000264.5(PTCH1):c.1218G>A (p.Val406=)
|
rs753586235
|
0.00001
|
NM_000264.5(PTCH1):c.1233C>T (p.Val411=)
|
rs752518133
|
0.00001
|
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg)
|
rs975634341
|
0.00001
|
NM_000264.5(PTCH1):c.1248T>G (p.Thr416=)
|
rs863224345
|
0.00001
|
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=)
|
rs1164371538
|
0.00001
|
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=)
|
rs537660949
|
0.00001
|
NM_000264.5(PTCH1):c.1353C>G (p.Ala451=)
|
rs754741810
|
0.00001
|
NM_000264.5(PTCH1):c.1353C>T (p.Ala451=)
|
rs754741810
|
0.00001
|
NM_000264.5(PTCH1):c.1413G>A (p.Leu471=)
|
rs1588600742
|
0.00001
|
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=)
|
rs774841100
|
0.00001
|
NM_000264.5(PTCH1):c.1431T>C (p.Val477=)
|
rs147162848
|
0.00001
|
NM_000264.5(PTCH1):c.1461G>A (p.Leu487=)
|
rs1398912905
|
0.00001
|
NM_000264.5(PTCH1):c.1467A>G (p.Ser489=)
|
rs747623182
|
0.00001
|
NM_000264.5(PTCH1):c.1552C>T (p.Leu518=)
|
rs1163742413
|
0.00001
|
NM_000264.5(PTCH1):c.1557C>T (p.Ala519=)
|
rs749296474
|
0.00001
|
NM_000264.5(PTCH1):c.1560C>T (p.His520=)
|
rs952270018
|
0.00001
|
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)
|
rs150284288
|
0.00001
|
NM_000264.5(PTCH1):c.1638C>T (p.Ala546=)
|
rs756682973
|
0.00001
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
NM_000264.5(PTCH1):c.1674C>T (p.Ala558=)
|
rs1227537345
|
0.00001
|
NM_000264.5(PTCH1):c.1704C>T (p.Pro568=)
|
rs912977281
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile)
|
rs529720410
|
0.00001
|
NM_000264.5(PTCH1):c.213T>C (p.Thr71=)
|
rs1457697349
|
0.00001
|
NM_000264.5(PTCH1):c.216C>T (p.Gly72=)
|
rs1383963652
|
0.00001
|
NM_000264.5(PTCH1):c.219G>A (p.Arg73=)
|
rs944623019
|
0.00001
|
NM_000264.5(PTCH1):c.228G>A (p.Pro76=)
|
rs140542305
|
0.00001
|
NM_000264.5(PTCH1):c.2622G>A (p.Lys874=)
|
rs747560273
|
0.00001
|
NM_000264.5(PTCH1):c.2670C>T (p.Thr890=)
|
rs770685875
|
0.00001
|
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys)
|
rs753008328
|
0.00001
|
NM_000264.5(PTCH1):c.2679C>T (p.Arg893=)
|
rs752658093
|
0.00001
|
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=)
|
rs1431878972
|
0.00001
|
NM_000264.5(PTCH1):c.2704-4G>A
|
rs864622248
|
0.00001
|
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val)
|
rs147643145
|
0.00001
|
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)
|
rs1305314328
|
0.00001
|
NM_000264.5(PTCH1):c.2767C>T (p.Leu923=)
|
rs1554691697
|
0.00001
|
NM_000264.5(PTCH1):c.279C>T (p.Tyr93=)
|
rs142340833
|
0.00001
|
NM_000264.5(PTCH1):c.285A>G (p.Gln95=)
|
rs140051386
|
0.00001
|
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn)
|
rs772662871
|
0.00001
|
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=)
|
rs752508525
|
0.00001
|
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=)
|
rs772344953
|
0.00001
|
NM_000264.5(PTCH1):c.3090G>C (p.Leu1030=)
|
rs764111126
|
0.00001
|
NM_000264.5(PTCH1):c.3099C>T (p.Ser1033=)
|
rs1256956712
|
0.00001
|
NM_000264.5(PTCH1):c.3111C>T (p.Ala1037=)
|
rs1009386754
|
0.00001
|
NM_000264.5(PTCH1):c.3117A>G (p.Thr1039=)
|
rs775579178
|
0.00001
|
NM_000264.5(PTCH1):c.3129C>T (p.Cys1043=)
|
rs746220311
|
0.00001
|
NM_000264.5(PTCH1):c.3132T>C (p.Ala1044=)
|
rs1166490973
|
0.00001
|
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=)
|
rs549164233
|
0.00001
|
NM_000264.5(PTCH1):c.3169-5T>C
|
rs367654039
|
0.00001
|
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=)
|
rs757268536
|
0.00001
|
NM_000264.5(PTCH1):c.3219C>T (p.Leu1073=)
|
rs771814170
|
0.00001
|
NM_000264.5(PTCH1):c.3261C>T (p.Ile1087=)
|
rs768215021
|
0.00001
|
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr)
|
rs150217389
|
0.00001
|
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=)
|
rs1361137530
|
0.00001
|
NM_000264.5(PTCH1):c.3297C>T (p.His1099=)
|
rs1426862267
|
0.00001
|
NM_000264.5(PTCH1):c.3313C>T (p.Leu1105=)
|
rs773043594
|
0.00001
|
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)
|
rs769691754
|
0.00001
|
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=)
|
rs779950790
|
0.00001
|
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)
|
rs756638660
|
0.00001
|
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=)
|
rs759078294
|
0.00001
|
NM_000264.5(PTCH1):c.342G>A (p.Val114=)
|
rs766365142
|
0.00001
|
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=)
|
rs752031732
|
0.00001
|
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=)
|
rs864622621
|
0.00001
|
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=)
|
rs773389781
|
0.00001
|
NM_000264.5(PTCH1):c.357G>C (p.Ala119=)
|
rs377575915
|
0.00001
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
0.00001
|
NM_000264.5(PTCH1):c.3636C>T (p.Gly1212=)
|
rs751560737
|
0.00001
|
NM_000264.5(PTCH1):c.3645C>T (p.His1215=)
|
rs760927638
|
0.00001
|
NM_000264.5(PTCH1):c.3705C>T (p.Ser1235=)
|
rs1051927200
|
0.00001
|
NM_000264.5(PTCH1):c.3715C>T (p.Arg1239Trp)
|
rs758411912
|
0.00001
|
NM_000264.5(PTCH1):c.3723C>T (p.Tyr1241=)
|
rs750745538
|
0.00001
|
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp)
|
rs374011978
|
0.00001
|
NM_000264.5(PTCH1):c.3738C>T (p.Gly1246=)
|
rs771308724
|
0.00001
|
NM_000264.5(PTCH1):c.3756C>T (p.His1252=)
|
rs768484663
|
0.00001
|
NM_000264.5(PTCH1):c.3759A>G (p.Gln1253=)
|
rs1220180319
|
0.00001
|
NM_000264.5(PTCH1):c.3765C>T (p.Ile1255=)
|
rs758229027
|
0.00001
|
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)
|
rs951501624
|
0.00001
|
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu)
|
rs747128318
|
0.00001
|
NM_000264.5(PTCH1):c.3837C>T (p.Pro1279=)
|
rs1263941339
|
0.00001
|
NM_000264.5(PTCH1):c.3843C>T (p.Asn1281=)
|
rs765729268
|
0.00001
|
NM_000264.5(PTCH1):c.384G>C (p.Leu128=)
|
rs990879355
|
0.00001
|
NM_000264.5(PTCH1):c.3852G>A (p.Gln1284=)
|
rs530952447
|
0.00001
|
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=)
|
rs752197356
|
0.00001
|
NM_000264.5(PTCH1):c.3879G>A (p.Leu1293=)
|
rs1838044861
|
0.00001
|
NM_000264.5(PTCH1):c.3885C>T (p.Pro1295=)
|
rs267602323
|
0.00001
|
NM_000264.5(PTCH1):c.3899A>T (p.Gln1300Leu)
|
rs769680080
|
0.00001
|
NM_000264.5(PTCH1):c.390G>A (p.Val130=)
|
rs1203300469
|
0.00001
|
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)
|
rs786204201
|
0.00001
|
NM_000264.5(PTCH1):c.3924A>G (p.Arg1308=)
|
rs762725821
|
0.00001
|
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser)
|
rs574856671
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000264.5(PTCH1):c.3951A>G (p.Arg1317=)
|
rs1211632031
|
0.00001
|
NM_000264.5(PTCH1):c.3975T>A (p.Ile1325=)
|
rs45504199
|
0.00001
|
NM_000264.5(PTCH1):c.4041C>T (p.His1347=)
|
rs774524114
|
0.00001
|
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)
|
rs978722722
|
0.00001
|
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=)
|
rs748440992
|
0.00001
|
NM_000264.5(PTCH1):c.4062C>T (p.Ser1354=)
|
rs750183334
|
0.00001
|
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)
|
rs139535966
|
0.00001
|
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)
|
rs111481152
|
0.00001
|
NM_000264.5(PTCH1):c.4146C>T (p.His1382=)
|
rs1207158056
|
0.00001
|
NM_000264.5(PTCH1):c.4149G>A (p.Pro1383=)
|
rs56230654
|
0.00001
|
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)
|
rs761887390
|
0.00001
|
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)
|
rs587778631
|
0.00001
|
NM_000264.5(PTCH1):c.4167T>A (p.Pro1389=)
|
rs531218594
|
0.00001
|
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=)
|
rs201118928
|
0.00001
|
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)
|
rs786204094
|
0.00001
|
NM_000264.5(PTCH1):c.4239C>T (p.His1413=)
|
rs375040845
|
0.00001
|
NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn)
|
rs776235476
|
0.00001
|
NM_000264.5(PTCH1):c.4267A>C (p.Arg1423=)
|
rs1588509691
|
0.00001
|
NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val)
|
rs1043260017
|
0.00001
|
NM_000264.5(PTCH1):c.4308A>G (p.Glu1436=)
|
rs1352453918
|
0.00001
|
NM_000264.5(PTCH1):c.447A>G (p.Glu149=)
|
rs948008040
|
0.00001
|
NM_000264.5(PTCH1):c.522G>A (p.Ala174=)
|
rs891032185
|
0.00001
|
NM_000264.5(PTCH1):c.526C>T (p.Leu176=)
|
rs2066834
|
0.00001
|
NM_000264.5(PTCH1):c.594A>G (p.Lys198=)
|
rs1341335793
|
0.00001
|
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn)
|
rs780378700
|
0.00001
|
NM_000264.5(PTCH1):c.717G>A (p.Ala239=)
|
rs775723196
|
0.00001
|
NM_000264.5(PTCH1):c.764G>A (p.Arg255Gln)
|
rs779870576
|
0.00001
|
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
NM_000264.5(PTCH1):c.819T>C (p.Tyr273=)
|
rs1060504534
|
0.00001
|
NM_000264.5(PTCH1):c.828C>T (p.Asp276=)
|
rs763432270
|
0.00001
|
NM_000264.5(PTCH1):c.840A>G (p.Glu280=)
|
rs770426495
|
0.00001
|
NM_000264.5(PTCH1):c.915C>T (p.Pro305=)
|
rs137944857
|
0.00001
|
NM_000264.5(PTCH1):c.918C>T (p.Ala306=)
|
rs1005939298
|
0.00001
|
NM_000264.5(PTCH1):c.969G>A (p.Leu323=)
|
rs771618979
|
0.00001
|
NM_001083603.3(PTCH1):c.135A>G (p.Glu45=)
|
rs777102110
|
0.00001
|
NM_000264.5(PTCH1):c.1008C>T (p.His336=)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1017G>A (p.Glu339=)
|
|
|
NM_000264.5(PTCH1):c.1041C>G (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=)
|
rs1554699558
|
|
NM_000264.5(PTCH1):c.1065C>G (p.Val355=)
|
rs2118387266
|
|
NM_000264.5(PTCH1):c.1071C>G (p.Ala357=)
|
rs1588606079
|
|
NM_000264.5(PTCH1):c.1077C>G (p.Ala359=)
|
|
|
NM_000264.5(PTCH1):c.1107C>T (p.Pro369=)
|
|
|
NM_000264.5(PTCH1):c.1143T>C (p.Tyr381=)
|
|
|
NM_000264.5(PTCH1):c.1146C>G (p.Val382=)
|
|
|
NM_000264.5(PTCH1):c.1152C>T (p.His384=)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1185C>T (p.Ile395=)
|
|
|
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
|
|
|
NM_000264.5(PTCH1):c.1233C>G (p.Val411=)
|
rs752518133
|
|
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr)
|
rs370354759
|
|
NM_000264.5(PTCH1):c.1245C>T (p.Ser415=)
|
|
|
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=)
|
rs2118337388
|
|
NM_000264.5(PTCH1):c.1260T>G (p.Leu420=)
|
|
|
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
|
|
|
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=)
|
rs998906518
|
|
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=)
|
rs150837425
|
|
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
|
|
|
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
|
|
|
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
|
|
|
NM_000264.5(PTCH1):c.1302C>T (p.Phe434=)
|
rs2118332323
|
|
NM_000264.5(PTCH1):c.1305T>A (p.Ser435=)
|
rs1554698806
|
|
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)
|
rs148471237
|
|
NM_000264.5(PTCH1):c.1314T>C (p.Ser438=)
|
|
|
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=)
|
rs1060504540
|
|
NM_000264.5(PTCH1):c.1344C>T (p.Leu448=)
|
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=)
|
rs369109033
|
|
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)
|
rs2118311917
|
|
NM_000264.5(PTCH1):c.1363C>T (p.Leu455=)
|
|
|
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1374G>A (p.Leu458=)
|
|
|
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1395C>T (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1413G>T (p.Leu471=)
|
|
|
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=)
|
rs774841100
|
|
NM_000264.5(PTCH1):c.1423C>T (p.Leu475=)
|
|
|
NM_000264.5(PTCH1):c.1425G>A (p.Leu475=)
|
|
|
NM_000264.5(PTCH1):c.1425G>T (p.Leu475=)
|
|
|
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=)
|
rs1298358252
|
|
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=)
|
rs1588600596
|
|
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
|
|
|
NM_000264.5(PTCH1):c.1453C>T (p.Leu485=)
|
|
|
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=)
|
rs2118305061
|
|
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=)
|
rs1588600570
|
|
NM_000264.5(PTCH1):c.1461G>T (p.Leu487=)
|
|
|
NM_000264.5(PTCH1):c.1468T>C (p.Leu490=)
|
|
|
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)
|
rs1060504538
|
|
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
|
|
|
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=)
|
rs1374700325
|
|
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=)
|
rs778837458
|
|
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)
|
rs1554698288
|
|
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)
|
rs1841075494
|
|
NM_000264.5(PTCH1):c.1575A>G (p.Thr525=)
|
|
|
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=)
|
rs2118280594
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1603-5C>T
|
rs1588596863
|
|
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=)
|
rs780344685
|
|
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=)
|
rs1841017295
|
|
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
|
|
|
NM_000264.5(PTCH1):c.1653G>T (p.Thr551=)
|
|
|
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
|
|
|
NM_000264.5(PTCH1):c.1662C>T (p.Ser554=)
|
|
|
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
|
|
|
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=)
|
rs2066836
|
|
NM_000264.5(PTCH1):c.1689G>A (p.Ala563=)
|
rs371757261
|
|
NM_000264.5(PTCH1):c.1689G>C (p.Ala563=)
|
rs371757261
|
|
NM_000264.5(PTCH1):c.168C>T (p.Cys56=)
|
rs2118906879
|
|
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=)
|
rs2118250352
|
|
NM_000264.5(PTCH1):c.1708C>T (p.Leu570=)
|
|
|
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=)
|
rs374924167
|
|
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=)
|
rs762575636
|
|
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=)
|
rs55844310
|
|
NM_000264.5(PTCH1):c.1716G>C (p.Ala572=)
|
rs55844310
|
|
NM_000264.5(PTCH1):c.171C>T (p.Asp57=)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.1722C>T (p.Ser574=)
|
|
|
NM_000264.5(PTCH1):c.180C>T (p.Phe60=)
|
|
|
NM_000264.5(PTCH1):c.184C>T (p.Leu62=)
|
|
|
NM_000264.5(PTCH1):c.189G>A (p.Glu63=)
|
|
|
NM_000264.5(PTCH1):c.198C>A (p.Ser66=)
|
|
|
NM_000264.5(PTCH1):c.198C>T (p.Ser66=)
|
rs1355794957
|
|
NM_000264.5(PTCH1):c.204G>A (p.Gly68=)
|
rs547930654
|
|
NM_000264.5(PTCH1):c.204G>T (p.Gly68=)
|
rs547930654
|
|
NM_000264.5(PTCH1):c.207G>A (p.Lys69=)
|
rs1320211956
|
|
NM_000264.5(PTCH1):c.207G>C (p.Lys69Asn)
|
|
|
NM_000264.5(PTCH1):c.210T>C (p.Ala70=)
|
|
|
NM_000264.5(PTCH1):c.216C>G (p.Gly72=)
|
rs1383963652
|
|
NM_000264.5(PTCH1):c.219G>T (p.Arg73=)
|
|
|
NM_000264.5(PTCH1):c.228G>T (p.Pro76=)
|
|
|
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
|
|
|
NM_000264.5(PTCH1):c.238A>C (p.Arg80=)
|
|
|
NM_000264.5(PTCH1):c.252G>A (p.Gln84=)
|
rs587780698
|
|
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)
|
rs751613059
|
|
NM_000264.5(PTCH1):c.2574A>C (p.Ala858=)
|
|
|
NM_000264.5(PTCH1):c.2574A>G (p.Ala858=)
|
|
|
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=)
|
rs1839515955
|
|
NM_000264.5(PTCH1):c.2595C>A (p.Thr865=)
|
|
|
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=)
|
rs2136689118
|
|
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
|
|
|
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=)
|
rs568888639
|
|
NM_000264.5(PTCH1):c.2613C>T (p.Asn871=)
|
|
|
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=)
|
rs1389183150
|
|
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2643C>G (p.Val881=)
|
rs1588551617
|
|
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
|
|
|
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.2673C>T (p.Gly891=)
|
|
|
NM_000264.5(PTCH1):c.2679C>A (p.Arg893=)
|
|
|
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=)
|
rs1055193050
|
|
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=)
|
rs1348603148
|
|
NM_000264.5(PTCH1):c.2706G>A (p.Leu902=)
|
rs993814839
|
|
NM_000264.5(PTCH1):c.270G>A (p.Leu90=)
|
|
|
NM_000264.5(PTCH1):c.2724G>T (p.Val908=)
|
rs1564021832
|
|
NM_000264.5(PTCH1):c.2736C>A (p.Gly912=)
|
|
|
NM_000264.5(PTCH1):c.2739C>T (p.Ile913=)
|
|
|
NM_000264.5(PTCH1):c.273T>A (p.Gly91=)
|
|
|
NM_000264.5(PTCH1):c.273T>C (p.Gly91=)
|
|
|
NM_000264.5(PTCH1):c.2754T>C (p.Ala918=)
|
rs1588544935
|
|
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
|
|
|
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
|
|
|
NM_000264.5(PTCH1):c.2802T>C (p.Tyr934=)
|
|
|
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=)
|
rs1393599414
|
|
NM_000264.5(PTCH1):c.2824C>A (p.Arg942=)
|
|
|
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=)
|
rs934070764
|
|
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=)
|
rs150739122
|
|
NM_000264.5(PTCH1):c.2853C>T (p.Asp951=)
|
|
|
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=)
|
rs1554691433
|
|
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=)
|
rs748318700
|
|
NM_000264.5(PTCH1):c.291C>T (p.Asn97=)
|
|
|
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=)
|
rs2136662510
|
|
NM_000264.5(PTCH1):c.2931C>T (p.Tyr977=)
|
rs1588540806
|
|
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=)
|
rs1588540781
|
|
NM_000264.5(PTCH1):c.2943G>A (p.Leu981=)
|
|
|
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=)
|
rs1204950098
|
|
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=)
|
rs2136662098
|
|
NM_000264.5(PTCH1):c.2982A>T (p.Val994=)
|
rs1588540533
|
|
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
|
|
|
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=)
|
rs1060502298
|
|
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)
|
rs864622620
|
|
NM_000264.5(PTCH1):c.3015G>A (p.Gly1005=)
|
|
|
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=)
|
rs863224350
|
|
NM_000264.5(PTCH1):c.3036C>T (p.Gly1012=)
|
|
|
NM_000264.5(PTCH1):c.303C>T (p.Phe101=)
|
rs1425771551
|
|
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=)
|
rs757821035
|
|
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=)
|
rs1404182043
|
|
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=)
|
rs1165046037
|
|
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=)
|
rs767289081
|
|
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=)
|
rs1588539992
|
|
NM_000264.5(PTCH1):c.3075C>G (p.Arg1025=)
|
|
|
NM_000264.5(PTCH1):c.3078C>T (p.His1026=)
|
|
|
NM_000264.5(PTCH1):c.3102G>C (p.Val1034=)
|
|
|
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=)
|
rs2136660293
|
|
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
|
|
|
NM_000264.5(PTCH1):c.3108G>A (p.Leu1036=)
|
|
|
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=)
|
rs1009386754
|
|
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=)
|
rs1303636474
|
|
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=)
|
rs1554691356
|
|
NM_000264.5(PTCH1):c.312G>T (p.Val104=)
|
|
|
NM_000264.5(PTCH1):c.3132T>G (p.Ala1044=)
|
|
|
NM_000264.5(PTCH1):c.3141T>A (p.Leu1047=)
|
|
|
NM_000264.5(PTCH1):c.3150C>G (p.Pro1050=)
|
|
|
NM_000264.5(PTCH1):c.3156G>T (p.Thr1052=)
|
|
|
NM_000264.5(PTCH1):c.315C>T (p.Gly105=)
|
|
|
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=)
|
rs2136650471
|
|
NM_000264.5(PTCH1):c.3177C>G (p.Val1059=)
|
|
|
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=)
|
rs757268536
|
|
NM_000264.5(PTCH1):c.3183G>C (p.Ala1061=)
|
rs878853854
|
|
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=)
|
rs370936145
|
|
NM_000264.5(PTCH1):c.3199C>T (p.Leu1067=)
|
rs2136649847
|
|
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=)
|
rs2136649380
|
|
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
|
|
|
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=)
|
rs757101018
|
|
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
|
|
|
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
|
|
|
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
|
|
|
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=)
|
rs768215021
|
|
NM_000264.5(PTCH1):c.327T>C (p.Phe109=)
|
rs2118876372
|
|
NM_000264.5(PTCH1):c.3288C>T (p.Phe1096=)
|
|
|
NM_000264.5(PTCH1):c.3303T>C (p.Ala1101=)
|
|
|
NM_000264.5(PTCH1):c.3307-4A>C
|
rs1554690494
|
|
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=)
|
rs942699337
|
|
NM_000264.5(PTCH1):c.3324C>A (p.Ile1108=)
|
|
|
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=)
|
rs748117539
|
|
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
|
|
|
NM_000264.5(PTCH1):c.333C>T (p.Ala111=)
|
rs863224351
|
|
NM_000264.5(PTCH1):c.3340A>C (p.Arg1114=)
|
rs587776689
|
|
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val)
|
rs779192138
|
|
NM_000264.5(PTCH1):c.3351T>C (p.Leu1117=)
|
|
|
NM_000264.5(PTCH1):c.3355C>T (p.Leu1119=)
|
|
|
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=)
|
rs1838662525
|
|
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=)
|
rs1554690458
|
|
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
|
|
|
NM_000264.5(PTCH1):c.3378C>G (p.Val1126=)
|
|
|
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=)
|
rs1032072492
|
|
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=)
|
rs1267662604
|
|
NM_000264.5(PTCH1):c.339G>A (p.Ala113=)
|
|
|
NM_000264.5(PTCH1):c.339G>C (p.Ala113=)
|
rs756224406
|
|
NM_000264.5(PTCH1):c.339G>T (p.Ala113=)
|
|
|
NM_000264.5(PTCH1):c.3402G>A (p.Leu1134=)
|
|
|
NM_000264.5(PTCH1):c.3402G>T (p.Leu1134=)
|
|
|
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
|
|
|
NM_000264.5(PTCH1):c.3408A>C (p.Gly1136=)
|
|
|
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=)
|
rs769601779
|
|
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)
|
rs745948150
|
|
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=)
|
rs778900289
|
|
NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=)
|
rs1554690401
|
|
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=)
|
rs950019214
|
|
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe)
|
rs368636457
|
|
NM_000264.5(PTCH1):c.3486C>T (p.Leu1162=)
|
rs1554689696
|
|
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=)
|
rs2136607957
|
|
NM_000264.5(PTCH1):c.3492T>G (p.Val1164=)
|
|
|
NM_000264.5(PTCH1):c.3498T>C (p.Asn1166=)
|
|
|
NM_000264.5(PTCH1):c.3501G>C (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.3519G>C (p.Val1173=)
|
rs1588519366
|
|
NM_000264.5(PTCH1):c.351A>G (p.Lys117=)
|
|
|
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=)
|
rs930364103
|
|
NM_000264.5(PTCH1):c.3543T>C (p.Tyr1181=)
|
|
|
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=)
|
rs2136603020
|
|
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=)
|
rs1398908173
|
|
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3568T>C (p.Leu1190=)
|
|
|
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
|
|
|
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
|
|
|
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
|
|
|
NM_000264.5(PTCH1):c.3606C>A (p.Pro1202=)
|
rs138240178
|
|
NM_000264.5(PTCH1):c.3606C>G (p.Pro1202=)
|
rs138240178
|
|
NM_000264.5(PTCH1):c.3609C>T (p.Ser1203=)
|
rs200843188
|
|
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
|
|
|
NM_000264.5(PTCH1):c.3612G>T (p.Val1204=)
|
|
|
NM_000264.5(PTCH1):c.3615C>G (p.Val1205=)
|
|
|
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
|
|
|
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.3630G>A (p.Pro1210=)
|
rs926583525
|
|
NM_000264.5(PTCH1):c.3630G>T (p.Pro1210=)
|
rs926583525
|
|
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=)
|
rs56007343
|
|
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
|
|
|
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=)
|
rs2136600344
|
|
NM_000264.5(PTCH1):c.3654T>G (p.Ser1218=)
|
|
|
NM_000264.5(PTCH1):c.3660C>T (p.Ser1220=)
|
rs1171930911
|
|
NM_000264.5(PTCH1):c.3663C>G (p.Ser1221=)
|
rs369771223
|
|
NM_000264.5(PTCH1):c.3663C>T (p.Ser1221=)
|
rs369771223
|
|
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=)
|
rs777377921
|
|
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=)
|
rs1588517173
|
|
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=)
|
rs2136599643
|
|
NM_000264.5(PTCH1):c.3693G>A (p.Val1231=)
|
|
|
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
|
|
|
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
|
|
|
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
|
|
|
NM_000264.5(PTCH1):c.369C>T (p.Thr123=)
|
|
|
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
|
|
|
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=)
|
rs1299281832
|
|
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
|
|
|
NM_000264.5(PTCH1):c.3729C>G (p.Ala1243=)
|
|
|
NM_000264.5(PTCH1):c.3738C>G (p.Gly1246=)
|
|
|
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
|
|
|
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
|
|
|
NM_000264.5(PTCH1):c.3762G>A (p.Val1254=)
|
|
|
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)
|
rs150850039
|
|
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)
|
rs970679518
|
|
NM_000264.5(PTCH1):c.3798C>T (p.His1266=)
|
|
|
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
|
|
|
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=)
|
rs369295226
|
|
NM_000264.5(PTCH1):c.3816C>G (p.Pro1272=)
|
|
|
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
|
|
|
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=)
|
rs1588512429
|
|
NM_000264.5(PTCH1):c.3831C>T (p.His1277=)
|
|
|
NM_000264.5(PTCH1):c.3837C>G (p.Pro1279=)
|
rs1263941339
|
|
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=)
|
rs750770371
|
|
NM_000264.5(PTCH1):c.3846G>C (p.Pro1282=)
|
|
|
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=)
|
rs1222530728
|
|
NM_000264.5(PTCH1):c.3861C>T (p.His1287=)
|
|
|
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=)
|
rs587780704
|
|
NM_000264.5(PTCH1):c.3870A>T (p.Ser1290=)
|
|
|
NM_000264.5(PTCH1):c.3888A>C (p.Gly1296=)
|
|
|
NM_000264.5(PTCH1):c.3891G>C (p.Arg1297=)
|
|
|
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
|
|
|
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)
|
rs779365332
|
|
NM_000264.5(PTCH1):c.3909C>T (p.Arg1303=)
|
|
|
NM_000264.5(PTCH1):c.3910A>C (p.Arg1304=)
|
|
|
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=)
|
rs757702954
|
|
NM_000264.5(PTCH1):c.3915C>G (p.Asp1305Glu)
|
|
|
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
|
|
|
NM_000264.5(PTCH1):c.3921C>A (p.Pro1307=)
|
rs766089412
|
|
NM_000264.5(PTCH1):c.3921C>G (p.Pro1307=)
|
rs766089412
|
|
NM_000264.5(PTCH1):c.3921C>T (p.Pro1307=)
|
rs766089412
|
|
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=)
|
rs1406247800
|
|
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)
|
rs1554688549
|
|
NM_000264.5(PTCH1):c.3966T>G (p.Ala1322=)
|
|
|
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
|
|
|
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=)
|
rs1588511470
|
|
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys)
|
rs150373546
|
|
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe)
|
rs150373546
|
|
NM_000264.5(PTCH1):c.3999T>G (p.Pro1333=)
|
|
|
NM_000264.5(PTCH1):c.399A>G (p.Gly133=)
|
rs2118551268
|
|
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
|
|
|
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=)
|
rs1588511343
|
|
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del)
|
rs774819810
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4023T>A (p.Pro1341=)
|
|
|
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=)
|
rs750057721
|
|
NM_000264.5(PTCH1):c.4035T>G (p.Arg1345=)
|
|
|
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln)
|
rs774524114
|
|
NM_000264.5(PTCH1):c.4044C>T (p.Asn1348=)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4047T>C (p.Pro1349=)
|
|
|
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=)
|
rs140417636
|
|
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)
|
rs786204103
|
|
NM_000264.5(PTCH1):c.4053C>T (p.Asn1351=)
|
|
|
NM_000264.5(PTCH1):c.4065T>A (p.Thr1355=)
|
|
|
NM_000264.5(PTCH1):c.4080C>A (p.Ser1360=)
|
rs62637631
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)
|
rs767625820
|
|
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
|
|
|
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=)
|
rs864622569
|
|
NM_000264.5(PTCH1):c.4104C>T (p.Ile1368=)
|
|
|
NM_000264.5(PTCH1):c.4107C>T (p.Thr1369=)
|
|
|
NM_000264.5(PTCH1):c.4116G>A (p.Thr1372=)
|
rs776937004
|
|
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=)
|
rs776937004
|
|
NM_000264.5(PTCH1):c.4119T>C (p.Ala1373=)
|
|
|
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
|
|
|
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=)
|
rs775974258
|
|
NM_000264.5(PTCH1):c.4128C>A (p.Ser1376=)
|
|
|
NM_000264.5(PTCH1):c.4134T>A (p.Thr1378=)
|
|
|
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
|
|
|
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=)
|
rs2136574783
|
|
NM_000264.5(PTCH1):c.4164G>A (p.Gly1388=)
|
|
|
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
|
|
|
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=)
|
rs45535032
|
|
NM_000264.5(PTCH1):c.4188A>G (p.Gly1396=)
|
rs2136573868
|
|
NM_000264.5(PTCH1):c.418T>C (p.Leu140=)
|
rs2118549817
|
|
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=)
|
rs754826635
|
|
NM_000264.5(PTCH1):c.4191C>T (p.Leu1397=)
|
rs754826635
|
|
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
|
|
|
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=)
|
rs1554688167
|
|
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=)
|
rs1588510064
|
|
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=)
|
rs2136573135
|
|
NM_000264.5(PTCH1):c.4221C>T (p.Gly1407=)
|
|
|
NM_000264.5(PTCH1):c.4222C>T (p.Leu1408=)
|
|
|
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=)
|
rs774528758
|
|
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=)
|
rs2136572617
|
|
NM_000264.5(PTCH1):c.4236C>A (p.Pro1412=)
|
|
|
NM_000264.5(PTCH1):c.4236C>G (p.Pro1412=)
|
rs369083374
|
|
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=)
|
rs369083374
|
|
NM_000264.5(PTCH1):c.4242G>T (p.Val1414=)
|
|
|
NM_000264.5(PTCH1):c.4248C>T (p.Phe1416=)
|
|
|
NM_000264.5(PTCH1):c.4254C>T (p.Val1418=)
|
rs1295502837
|
|
NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=)
|
rs139942632
|
|
NM_000264.5(PTCH1):c.4257G>C (p.Arg1419=)
|
rs1588509739
|
|
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg)
|
rs864622068
|
|
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=)
|
rs2136571795
|
|
NM_000264.5(PTCH1):c.4266G>A (p.Arg1422=)
|
|
|
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
|
|
|
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
|
|
|
NM_000264.5(PTCH1):c.4275G>C (p.Ser1425=)
|
|
|
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
|
|
|
NM_000264.5(PTCH1):c.4296G>C (p.Leu1432=)
|
|
|
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.4323C>T (p.Pro1441=)
|
|
|
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
|
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=)
|
rs1325469372
|
|
NM_000264.5(PTCH1):c.4335C>T (p.Ser1445=)
|
|
|
NM_000264.5(PTCH1):c.4338C>T (p.Ser1446=)
|
|
|
NM_000264.5(PTCH1):c.438G>A (p.Lys146=)
|
|
|
NM_000264.5(PTCH1):c.453T>G (p.Ala151=)
|
rs879188085
|
|
NM_000264.5(PTCH1):c.468A>G (p.Gln156=)
|
rs200729445
|
|
NM_000264.5(PTCH1):c.480G>A (p.Gln160=)
|
rs1841921572
|
|
NM_000264.5(PTCH1):c.483C>T (p.Thr161=)
|
|
|
NM_000264.5(PTCH1):c.507C>G (p.Val169=)
|
rs1490972795
|
|
NM_000264.5(PTCH1):c.507C>T (p.Val169=)
|
rs1490972795
|
|
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.510G>T (p.Leu170=)
|
rs531730217
|
|
NM_000264.5(PTCH1):c.513C>G (p.Thr171=)
|
|
|
NM_000264.5(PTCH1):c.516A>G (p.Thr172=)
|
|
|
NM_000264.5(PTCH1):c.525C>T (p.Leu175=)
|
rs1554702079
|
|
NM_000264.5(PTCH1):c.543G>T (p.Ser181=)
|
|
|
NM_000264.5(PTCH1):c.552G>A (p.Gln184=)
|
|
|
NM_000264.5(PTCH1):c.555C>T (p.Ala185=)
|
rs1197767332
|
|
NM_000264.5(PTCH1):c.561T>C (p.Arg187=)
|
|
|
NM_000264.5(PTCH1):c.564C>G (p.Val188=)
|
rs963079015
|
|
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
|
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NM_000264.5(PTCH1):c.573C>T (p.Tyr191=)
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rs1249050389
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NM_000264.5(PTCH1):c.585-5A>G
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rs1588614746
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NM_000264.5(PTCH1):c.595T>C (p.Leu199=)
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rs2118474956
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NM_000264.5(PTCH1):c.606G>A (p.Leu202=)
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rs769719333
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NM_000264.5(PTCH1):c.618A>G (p.Ser206=)
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rs1841594710
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NM_000264.5(PTCH1):c.636A>G (p.Glu212=)
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NM_000264.5(PTCH1):c.645C>T (p.Tyr215=)
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rs878853858
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NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
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NM_000264.5(PTCH1):c.663A>G (p.Glu221=)
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rs1479973586
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NM_000264.5(PTCH1):c.672C>T (p.Tyr224=)
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rs1588614178
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NM_000264.5(PTCH1):c.675T>A (p.Pro225=)
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NM_000264.5(PTCH1):c.693T>C (p.Pro231=)
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NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
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NM_000264.5(PTCH1):c.705C>T (p.Phe235=)
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NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
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NM_000264.5(PTCH1):c.750T>G (p.Gly250=)
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NM_000264.5(PTCH1):c.765G>T (p.Arg255=)
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rs2118427794
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NM_000264.5(PTCH1):c.771A>G (p.Thr257=)
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rs2118427410
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NM_000264.5(PTCH1):c.783T>G (p.Pro261=)
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rs1554699996
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NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
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NM_000264.5(PTCH1):c.798A>G (p.Glu266=)
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NM_000264.5(PTCH1):c.804A>G (p.Leu268=)
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NM_000264.5(PTCH1):c.816C>T (p.Asn272=)
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NM_000264.5(PTCH1):c.822A>G (p.Gln274=)
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NM_000264.5(PTCH1):c.825G>A (p.Val275=)
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rs2118421809
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NM_000264.5(PTCH1):c.831C>T (p.Ser277=)
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rs773794742
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NM_000264.5(PTCH1):c.846G>A (p.Leu282=)
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NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
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NM_000264.5(PTCH1):c.879C>T (p.Asp293=)
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NM_000264.5(PTCH1):c.885C>T (p.Pro295=)
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NM_000264.5(PTCH1):c.897G>C (p.Pro299=)
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rs56141639
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NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
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NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
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NM_000264.5(PTCH1):c.939A>G (p.Ser313=)
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rs1841439010
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NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
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NM_000264.5(PTCH1):c.960C>T (p.Ala320=)
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NM_000264.5(PTCH1):c.972T>C (p.Asn324=)
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rs759157693
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NM_000264.5(PTCH1):c.981T>C (p.Cys327=)
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rs2118394148
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NM_000264.5(PTCH1):c.990A>G (p.Leu330=)
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NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
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NM_001083603.3(PTCH1):c.130GAA[4] (p.Glu48del)
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rs112914470
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NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu)
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rs112914470
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NM_001083603.3(PTCH1):c.4del (p.Glu2fs)
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rs752765582
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