NM_000264.5(PTCH1):c.3449+15G>A
|
rs190483719
|
0.00052
|
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=)
|
rs2066839
|
0.00049
|
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val)
|
rs139498131
|
0.00043
|
NM_000264.5(PTCH1):c.2887+10G>A
|
rs202081420
|
0.00031
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
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.3919C>T (p.Pro1307Ser)
|
rs574880967
|
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.346T>C (p.Leu116=)
|
rs576398790
|
0.00015
|
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)
|
rs149667902
|
0.00014
|
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.896C>T (p.Pro299Leu)
|
rs141939274
|
0.00012
|
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.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.2771C>T (p.Thr924Met)
|
rs1456450494
|
0.00009
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=)
|
rs148471237
|
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.201+19C>T
|
rs765308113
|
0.00007
|
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile)
|
rs376084632
|
0.00007
|
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.3805-14C>G
|
rs771678354
|
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.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.1404C>T (p.Ala468=)
|
rs201246004
|
0.00005
|
NM_000264.5(PTCH1):c.2704-10G>A
|
rs566679986
|
0.00005
|
NM_000264.5(PTCH1):c.2704-11C>T
|
rs779097397
|
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.4256G>A (p.Arg1419Gln)
|
rs372686352
|
0.00005
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
NM_000264.5(PTCH1):c.2561-10C>T
|
rs763935951
|
0.00004
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
NM_000264.5(PTCH1):c.2703+14T>C
|
rs764551190
|
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.3169-11C>T
|
rs377346472
|
0.00004
|
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His)
|
rs143781513
|
0.00004
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.3450-15C>T
|
rs755474627
|
0.00004
|
NM_000264.5(PTCH1):c.3549+14C>T
|
rs753297713
|
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.394+12C>T
|
rs371356396
|
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.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.584+10G>A
|
rs765713791
|
0.00004
|
NM_000264.5(PTCH1):c.584+19A>G
|
rs374707429
|
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.1215+19C>T
|
rs755461123
|
0.00003
|
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=)
|
rs200313703
|
0.00003
|
NM_000264.5(PTCH1):c.1347+10G>A
|
rs370916305
|
0.00003
|
NM_000264.5(PTCH1):c.1347+15C>T
|
rs377622963
|
0.00003
|
NM_000264.5(PTCH1):c.1348-4G>A
|
rs772826555
|
0.00003
|
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=)
|
rs369109033
|
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.201+16T>C
|
rs766739273
|
0.00003
|
NM_000264.5(PTCH1):c.2751C>T (p.Ser917=)
|
rs768127089
|
0.00003
|
NM_000264.5(PTCH1):c.2788G>A (p.Asp930Asn)
|
rs539755311
|
0.00003
|
NM_000264.5(PTCH1):c.2850C>T (p.His950=)
|
rs200776583
|
0.00003
|
NM_000264.5(PTCH1):c.2887+19G>C
|
rs778051088
|
0.00003
|
NM_000264.5(PTCH1):c.2988C>T (p.Thr996=)
|
rs759501618
|
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.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.3371C>T (p.Ala1124Val)
|
rs374187104
|
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.3904C>T (p.Pro1302Ser)
|
rs747093389
|
0.00003
|
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser)
|
rs767625820
|
0.00003
|
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)
|
rs45535032
|
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.654+13C>G
|
rs746323188
|
0.00003
|
NM_000264.5(PTCH1):c.655-12T>C
|
rs376472172
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)
|
rs1421967825
|
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.945+19C>T
|
rs538776608
|
0.00003
|
NM_000264.5(PTCH1):c.975T>C (p.Gly325=)
|
rs149018937
|
0.00003
|
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)
|
rs779294007
|
0.00002
|
NM_000264.5(PTCH1):c.1067+14C>T
|
rs759069478
|
0.00002
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.1140G>A (p.Glu380=)
|
rs764896299
|
0.00002
|
NM_000264.5(PTCH1):c.1216-10G>A
|
rs587780691
|
0.00002
|
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=)
|
rs150837425
|
0.00002
|
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=)
|
rs373930674
|
0.00002
|
NM_000264.5(PTCH1):c.1348-20C>T
|
rs771558986
|
0.00002
|
NM_000264.5(PTCH1):c.1376G>A (p.Arg459His)
|
rs140537949
|
0.00002
|
NM_000264.5(PTCH1):c.1504-3dup
|
rs762810537
|
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.254G>A (p.Arg85Lys)
|
rs151310492
|
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.3124G>A (p.Val1042Met)
|
rs772406487
|
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.3298G>A (p.Val1100Ile)
|
rs577110118
|
0.00002
|
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=)
|
rs778900289
|
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.3686C>T (p.Thr1229Met)
|
rs781080456
|
0.00002
|
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=)
|
rs772544302
|
0.00002
|
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr)
|
rs759791227
|
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.3913G>T (p.Asp1305Tyr)
|
rs368528885
|
0.00002
|
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)
|
rs773043616
|
0.00002
|
NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His)
|
rs572658914
|
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.4081G>A (p.Val1361Met)
|
rs753535745
|
0.00002
|
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu)
|
rs571030658
|
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.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
NM_000264.5(PTCH1):c.584+13G>A
|
rs529799940
|
0.00002
|
NM_000264.5(PTCH1):c.654+4T>C
|
rs758839801
|
0.00002
|
NM_000264.5(PTCH1):c.655-5G>T
|
rs776683312
|
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.1020G>A (p.Glu340=)
|
rs748171767
|
0.00001
|
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)
|
rs1476325987
|
0.00001
|
NM_000264.5(PTCH1):c.1067+15G>A
|
rs773933111
|
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.1104T>C (p.Thr368=)
|
rs1436332323
|
0.00001
|
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=)
|
rs758977865
|
0.00001
|
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)
|
rs863224648
|
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.1193C>T (p.Ala398Val)
|
rs375098989
|
0.00001
|
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=)
|
rs1234871751
|
0.00001
|
NM_000264.5(PTCH1):c.1215+10C>T
|
rs1444052168
|
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.1248T>G (p.Thr416=)
|
rs863224345
|
0.00001
|
NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys)
|
rs1285775586
|
0.00001
|
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=)
|
rs1164371538
|
0.00001
|
NM_000264.5(PTCH1):c.1317C>T (p.Val439=)
|
rs755904085
|
0.00001
|
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)
|
rs752530755
|
0.00001
|
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)
|
rs767273237
|
0.00001
|
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=)
|
rs537660949
|
0.00001
|
NM_000264.5(PTCH1):c.1347+16A>G
|
rs779587353
|
0.00001
|
NM_000264.5(PTCH1):c.1347+17T>C
|
rs373179629
|
0.00001
|
NM_000264.5(PTCH1):c.1347+19C>T
|
rs748811098
|
0.00001
|
NM_000264.5(PTCH1):c.1347+5C>T
|
rs567257548
|
0.00001
|
NM_000264.5(PTCH1):c.1347+9C>T
|
rs775905392
|
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.1391A>G (p.Lys464Arg)
|
rs756171491
|
0.00001
|
NM_000264.5(PTCH1):c.1407G>A (p.Val469=)
|
rs1378167817
|
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.1489G>A (p.Ala497Thr)
|
rs1398130707
|
0.00001
|
NM_000264.5(PTCH1):c.1503+19A>T
|
rs201193230
|
0.00001
|
NM_000264.5(PTCH1):c.1503+6A>G
|
rs1841148776
|
0.00001
|
NM_000264.5(PTCH1):c.1503+9G>A
|
rs1188833495
|
0.00001
|
NM_000264.5(PTCH1):c.1504-4del
|
rs1182409968
|
0.00001
|
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr)
|
rs745669155
|
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.1603-16G>T
|
rs1269440132
|
0.00001
|
NM_000264.5(PTCH1):c.1603-9T>A
|
rs1471375018
|
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.164A>T (p.Tyr55Phe)
|
rs1205081001
|
0.00001
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly)
|
rs1340609158
|
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.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
NM_000264.5(PTCH1):c.1728+15A>G
|
rs771991404
|
0.00001
|
NM_000264.5(PTCH1):c.1728+7T>C
|
rs776735470
|
0.00001
|
NM_000264.5(PTCH1):c.198C>G (p.Ser66=)
|
rs1355794957
|
0.00001
|
NM_000264.5(PTCH1):c.201+17C>A
|
rs750650083
|
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.219G>A (p.Arg73=)
|
rs944623019
|
0.00001
|
NM_000264.5(PTCH1):c.2561-20C>A
|
rs1361292543
|
0.00001
|
NM_000264.5(PTCH1):c.2580C>T (p.Asp860=)
|
rs1839517366
|
0.00001
|
NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala)
|
rs1186399866
|
0.00001
|
NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg)
|
rs765578315
|
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.2679C>T (p.Arg893=)
|
rs752658093
|
0.00001
|
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=)
|
rs1431878972
|
0.00001
|
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)
|
rs765371196
|
0.00001
|
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn)
|
rs762152128
|
0.00001
|
NM_000264.5(PTCH1):c.2703+13C>T
|
rs1431171944
|
0.00001
|
NM_000264.5(PTCH1):c.2704-13C>T
|
rs1447832961
|
0.00001
|
NM_000264.5(PTCH1):c.2704-4G>A
|
rs864622248
|
0.00001
|
NM_000264.5(PTCH1):c.2704-5T>C
|
rs1023491715
|
0.00001
|
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His)
|
rs764310195
|
0.00001
|
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)
|
rs1305314328
|
0.00001
|
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val)
|
rs760174192
|
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.2820C>T (p.Asn940=)
|
rs778138969
|
0.00001
|
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln)
|
rs768039033
|
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.2887+17C>T
|
rs771970960
|
0.00001
|
NM_000264.5(PTCH1):c.2887+18G>A
|
rs749377356
|
0.00001
|
NM_000264.5(PTCH1):c.2887+9C>T
|
rs746863062
|
0.00001
|
NM_000264.5(PTCH1):c.2888-6G>A
|
rs775208484
|
0.00001
|
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)
|
rs377120922
|
0.00001
|
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=)
|
rs147044276
|
0.00001
|
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His)
|
rs587780700
|
0.00001
|
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)
|
rs758907408
|
0.00001
|
NM_000264.5(PTCH1):c.2955A>C (p.Ser985=)
|
rs1060504532
|
0.00001
|
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=)
|
rs752508525
|
0.00001
|
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys)
|
rs1036074195
|
0.00001
|
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys)
|
rs1472299295
|
0.00001
|
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn)
|
rs769866360
|
0.00001
|
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=)
|
rs772344953
|
0.00001
|
NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser)
|
rs187813269
|
0.00001
|
NM_000264.5(PTCH1):c.3070C>G (p.Leu1024Val)
|
rs759405378
|
0.00001
|
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)
|
rs370150142
|
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.311T>C (p.Val104Ala)
|
rs746275162
|
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.3149C>T (p.Pro1050Leu)
|
rs1420175816
|
0.00001
|
NM_000264.5(PTCH1):c.3168+16G>C
|
rs754733018
|
0.00001
|
NM_000264.5(PTCH1):c.3219C>T (p.Leu1073=)
|
rs771814170
|
0.00001
|
NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val)
|
rs745626835
|
0.00001
|
NM_000264.5(PTCH1):c.3239C>T (p.Ala1080Val)
|
rs781188522
|
0.00001
|
NM_000264.5(PTCH1):c.3261C>T (p.Ile1087=)
|
rs768215021
|
0.00001
|
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=)
|
rs1361137530
|
0.00001
|
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala)
|
rs1291842090
|
0.00001
|
NM_000264.5(PTCH1):c.3297C>T (p.His1099=)
|
rs1426862267
|
0.00001
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
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.3325G>A (p.Gly1109Ser)
|
rs1344231723
|
0.00001
|
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu)
|
rs863224653
|
0.00001
|
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=)
|
rs759078294
|
0.00001
|
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)
|
rs766037357
|
0.00001
|
NM_000264.5(PTCH1):c.342G>A (p.Val114=)
|
rs766365142
|
0.00001
|
NM_000264.5(PTCH1):c.3449+10C>T
|
rs371546179
|
0.00001
|
NM_000264.5(PTCH1):c.3449+7A>T
|
rs374907800
|
0.00001
|
NM_000264.5(PTCH1):c.3450-20G>A
|
rs781454030
|
0.00001
|
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=)
|
rs752031732
|
0.00001
|
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu)
|
rs368636457
|
0.00001
|
NM_000264.5(PTCH1):c.3477C>T (p.Leu1159=)
|
rs1838313389
|
0.00001
|
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)
|
rs147633236
|
0.00001
|
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)
|
rs371346118
|
0.00001
|
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val)
|
rs772200521
|
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.3574C>T (p.Arg1192Cys)
|
rs571420165
|
0.00001
|
NM_000264.5(PTCH1):c.357G>C (p.Ala119=)
|
rs377575915
|
0.00001
|
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)
|
rs374097441
|
0.00001
|
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)
|
rs945517672
|
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.3655G>C (p.Asp1219His)
|
rs774833489
|
0.00001
|
NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu)
|
rs769287098
|
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.3738C>T (p.Gly1246=)
|
rs771308724
|
0.00001
|
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)
|
rs1060502265
|
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.3804+18A>G
|
rs1838202750
|
0.00001
|
NM_000264.5(PTCH1):c.3805-19C>T
|
rs375522977
|
0.00001
|
NM_000264.5(PTCH1):c.3805-20C>T
|
rs1264140680
|
0.00001
|
NM_000264.5(PTCH1):c.3805-8C>G
|
rs1056411006
|
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.3924A>G (p.Arg1308=)
|
rs762725821
|
0.00001
|
NM_000264.5(PTCH1):c.394+10C>T
|
rs755119764
|
0.00001
|
NM_000264.5(PTCH1):c.394+13G>T
|
rs1444907229
|
0.00001
|
NM_000264.5(PTCH1):c.394+15C>G
|
rs771281691
|
0.00001
|
NM_000264.5(PTCH1):c.394+18G>A
|
rs749589611
|
0.00001
|
NM_000264.5(PTCH1):c.395-12C>T
|
rs374019375
|
0.00001
|
NM_000264.5(PTCH1):c.395-9A>G
|
rs781395697
|
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.4014C>T (p.Arg1338=)
|
rs1257662475
|
0.00001
|
NM_000264.5(PTCH1):c.4041C>T (p.His1347=)
|
rs774524114
|
0.00001
|
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp)
|
rs766576144
|
0.00001
|
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)
|
rs371943557
|
0.00001
|
NM_000264.5(PTCH1):c.4062C>T (p.Ser1354=)
|
rs750183334
|
0.00001
|
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)
|
rs864622456
|
0.00001
|
NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr)
|
rs1397510746
|
0.00001
|
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)
|
rs139535966
|
0.00001
|
NM_000264.5(PTCH1):c.413G>A (p.Arg138His)
|
rs763774051
|
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.4167T>A (p.Pro1389=)
|
rs531218594
|
0.00001
|
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=)
|
rs201118928
|
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.430C>T (p.Arg144Cys)
|
rs587780705
|
0.00001
|
NM_000264.5(PTCH1):c.447A>G (p.Glu149=)
|
rs948008040
|
0.00001
|
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser)
|
rs751024812
|
0.00001
|
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)
|
rs770046324
|
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.528A>G (p.Leu176=)
|
rs771039964
|
0.00001
|
NM_000264.5(PTCH1):c.534C>T (p.His178=)
|
rs749224677
|
0.00001
|
NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu)
|
rs868350953
|
0.00001
|
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val)
|
rs567721919
|
0.00001
|
NM_000264.5(PTCH1):c.552G>T (p.Gln184His)
|
rs369893129
|
0.00001
|
NM_000264.5(PTCH1):c.584+12C>T
|
rs375797579
|
0.00001
|
NM_000264.5(PTCH1):c.584+15G>A
|
rs368571192
|
0.00001
|
NM_000264.5(PTCH1):c.584+18C>T
|
rs775769741
|
0.00001
|
NM_000264.5(PTCH1):c.584+9C>T
|
rs750895460
|
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.655-17C>G
|
rs1028803378
|
0.00001
|
NM_000264.5(PTCH1):c.671A>T (p.Tyr224Phe)
|
rs747205016
|
0.00001
|
NM_000264.5(PTCH1):c.717G>A (p.Ala239=)
|
rs775723196
|
0.00001
|
NM_000264.5(PTCH1):c.746+7G>A
|
rs369770500
|
0.00001
|
NM_000264.5(PTCH1):c.747-20T>C
|
rs778453806
|
0.00001
|
NM_000264.5(PTCH1):c.747-8T>C
|
rs780639292
|
0.00001
|
NM_000264.5(PTCH1):c.747-9C>A
|
rs747672519
|
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.832T>G (p.Trp278Gly)
|
rs1219459429
|
0.00001
|
NM_000264.5(PTCH1):c.840A>G (p.Glu280=)
|
rs770426495
|
0.00001
|
NM_000264.5(PTCH1):c.881G>A (p.Arg294His)
|
rs878853859
|
0.00001
|
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser)
|
rs745669231
|
0.00001
|
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)
|
rs1487227339
|
0.00001
|
NM_000264.5(PTCH1):c.915C>T (p.Pro305=)
|
rs137944857
|
0.00001
|
NM_000264.5(PTCH1):c.916G>A (p.Ala306Thr)
|
rs547776340
|
0.00001
|
NM_000264.5(PTCH1):c.918C>T (p.Ala306=)
|
rs1005939298
|
0.00001
|
NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile)
|
rs1255733467
|
0.00001
|
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu)
|
rs762382517
|
0.00001
|
NM_000264.5(PTCH1):c.945+10A>C
|
rs771708898
|
0.00001
|
NM_000264.5(PTCH1):c.946-18G>T
|
rs1447732065
|
0.00001
|
NM_000264.5(PTCH1):c.969G>A (p.Leu323=)
|
rs771618979
|
0.00001
|
NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr)
|
rs749049752
|
|
NM_000264.5(PTCH1):c.1008C>T (p.His336=)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1023G>A (p.Leu341=)
|
|
|
NM_000264.5(PTCH1):c.1026T>A (p.Ile342=)
|
|
|
NM_000264.5(PTCH1):c.1026T>C (p.Ile342=)
|
|
|
NM_000264.5(PTCH1):c.1027G>A (p.Val343Met)
|
rs1564054554
|
|
NM_000264.5(PTCH1):c.1031G>A (p.Gly344Asp)
|
rs758585782
|
|
NM_000264.5(PTCH1):c.1041C>G (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1041C>T (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=)
|
rs2118388662
|
|
NM_000264.5(PTCH1):c.1053T>C (p.Thr351=)
|
|
|
NM_000264.5(PTCH1):c.1059A>G (p.Lys353=)
|
rs1588608299
|
|
NM_000264.5(PTCH1):c.1062C>G (p.Leu354=)
|
rs1554699558
|
|
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.1067+16A>C
|
|
|
NM_000264.5(PTCH1):c.1067+20C>T
|
rs1015971517
|
|
NM_000264.5(PTCH1):c.1067+7C>G
|
rs2118386733
|
|
NM_000264.5(PTCH1):c.1068-10TG[3]
|
rs748406293
|
|
NM_000264.5(PTCH1):c.1068-18C>A
|
|
|
NM_000264.5(PTCH1):c.1068-3C>T
|
rs1841335848
|
|
NM_000264.5(PTCH1):c.1068-4G>A
|
|
|
NM_000264.5(PTCH1):c.1078C>T (p.Leu360=)
|
rs2118368238
|
|
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=)
|
rs777969745
|
|
NM_000264.5(PTCH1):c.1098A>G (p.Leu366=)
|
rs2118367508
|
|
NM_000264.5(PTCH1):c.1149A>C (p.Ser383=)
|
|
|
NM_000264.5(PTCH1):c.1152C>T (p.His384=)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1167G>A (p.Glu389=)
|
rs2118365266
|
|
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=)
|
rs2118365117
|
|
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)
|
rs371424684
|
|
NM_000264.5(PTCH1):c.1191G>A (p.Glu397=)
|
|
|
NM_000264.5(PTCH1):c.1194C>A (p.Ala398=)
|
|
|
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
|
|
|
NM_000264.5(PTCH1):c.1215+10C>A
|
rs1444052168
|
|
NM_000264.5(PTCH1):c.1215+15G>A
|
rs781602634
|
|
NM_000264.5(PTCH1):c.1215+15G>T
|
rs781602634
|
|
NM_000264.5(PTCH1):c.1215+20G>A
|
|
|
NM_000264.5(PTCH1):c.1215+5A>T
|
|
|
NM_000264.5(PTCH1):c.1215+6C>A
|
|
|
NM_000264.5(PTCH1):c.1215+6C>G
|
rs1371005350
|
|
NM_000264.5(PTCH1):c.1215+8C>T
|
rs1588605206
|
|
NM_000264.5(PTCH1):c.1215+9A>G
|
|
|
NM_000264.5(PTCH1):c.1216-10G>T
|
rs587780691
|
|
NM_000264.5(PTCH1):c.1216-11T>C
|
rs2118340723
|
|
NM_000264.5(PTCH1):c.1216-13G>A
|
|
|
NM_000264.5(PTCH1):c.1216-16T>C
|
|
|
NM_000264.5(PTCH1):c.1216-18A>G
|
|
|
NM_000264.5(PTCH1):c.1216-18A>T
|
|
|
NM_000264.5(PTCH1):c.1216-19C>T
|
|
|
NM_000264.5(PTCH1):c.1216-20G>A
|
rs747471269
|
|
NM_000264.5(PTCH1):c.1216-20G>T
|
|
|
NM_000264.5(PTCH1):c.1216-8G>A
|
|
|
NM_000264.5(PTCH1):c.1218G>C (p.Val406=)
|
|
|
NM_000264.5(PTCH1):c.1221T>A (p.Val407=)
|
rs2118339817
|
|
NM_000264.5(PTCH1):c.1224T>C (p.His408=)
|
|
|
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.1248T>C (p.Thr416=)
|
rs863224345
|
|
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=)
|
rs2118337388
|
|
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
|
|
|
NM_000264.5(PTCH1):c.1257G>A (p.Val419=)
|
rs1060504535
|
|
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.1285G>A (p.Asp429Asn)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1287C>T (p.Asp429=)
|
rs2118333811
|
|
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
|
|
|
NM_000264.5(PTCH1):c.1291C>T (p.Leu431=)
|
rs1416185684
|
|
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=)
|
rs1366832439
|
|
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.1305T>C (p.Ser435=)
|
|
|
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)
|
rs148471237
|
|
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=)
|
rs1060504540
|
|
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)
|
rs759493890
|
|
NM_000264.5(PTCH1):c.1347+10G>C
|
rs370916305
|
|
NM_000264.5(PTCH1):c.1347+12T>C
|
rs2118327578
|
|
NM_000264.5(PTCH1):c.1347+14C>T
|
|
|
NM_000264.5(PTCH1):c.1347+20T>C
|
|
|
NM_000264.5(PTCH1):c.1347+9C>G
|
rs775905392
|
|
NM_000264.5(PTCH1):c.1348-13G>A
|
rs2118313377
|
|
NM_000264.5(PTCH1):c.1348-13G>T
|
rs2118313377
|
|
NM_000264.5(PTCH1):c.1348-16A>G
|
|
|
NM_000264.5(PTCH1):c.1348-17C>G
|
rs2118313541
|
|
NM_000264.5(PTCH1):c.1348-19C>T
|
|
|
NM_000264.5(PTCH1):c.1348-8G>T
|
rs2118313205
|
|
NM_000264.5(PTCH1):c.1350C>A (p.Leu450=)
|
rs369109033
|
|
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.1359C>G (p.Ala453=)
|
rs1564050395
|
|
NM_000264.5(PTCH1):c.1365A>C (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1368C>T (p.Thr456=)
|
rs2118310809
|
|
NM_000264.5(PTCH1):c.1372C>T (p.Leu458=)
|
|
|
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1377C>A (p.Arg459=)
|
|
|
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=)
|
|
|
NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)
|
|
|
NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)
|
|
|
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=)
|
rs774841100
|
|
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=)
|
|
|
NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)
|
|
|
NM_000264.5(PTCH1):c.1428G>T (p.Leu476=)
|
|
|
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.1449A>G (p.Ala483=)
|
|
|
NM_000264.5(PTCH1):c.1452A>G (p.Gly484=)
|
|
|
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.1476A>C (p.Gly492=)
|
rs1057515720
|
|
NM_000264.5(PTCH1):c.1482C>G (p.Ser494=)
|
|
|
NM_000264.5(PTCH1):c.1485T>C (p.Phe495=)
|
|
|
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)
|
rs1060504538
|
|
NM_000264.5(PTCH1):c.1503+16T>C
|
|
|
NM_000264.5(PTCH1):c.1503+19A>G
|
|
|
NM_000264.5(PTCH1):c.1503+4C>A
|
|
|
NM_000264.5(PTCH1):c.1503+7A>C
|
rs779797845
|
|
NM_000264.5(PTCH1):c.1504-13_1504-11del
|
|
|
NM_000264.5(PTCH1):c.1504-14T>C
|
|
|
NM_000264.5(PTCH1):c.1504-15_1504-14del
|
|
|
NM_000264.5(PTCH1):c.1504-17C>G
|
rs1196072511
|
|
NM_000264.5(PTCH1):c.1504-4G>A
|
rs1588598729
|
|
NM_000264.5(PTCH1):c.1504-4G>C
|
|
|
NM_000264.5(PTCH1):c.1504-5T>C
|
|
|
NM_000264.5(PTCH1):c.1504-8_1504-7inv
|
|
|
NM_000264.5(PTCH1):c.1504-9T>C
|
|
|
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
|
|
|
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=)
|
rs1374700325
|
|
NM_000264.5(PTCH1):c.1520C>T (p.Ala507Val)
|
|
|
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=)
|
rs778837458
|
|
NM_000264.5(PTCH1):c.1527T>C (p.Gly509=)
|
rs2118285107
|
|
NM_000264.5(PTCH1):c.1533T>C (p.Gly511=)
|
rs2118284366
|
|
NM_000264.5(PTCH1):c.1566C>T (p.Phe522=)
|
rs2118281892
|
|
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)
|
rs751778283
|
|
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=)
|
rs2118280594
|
|
NM_000264.5(PTCH1):c.1596T>A (p.Pro532=)
|
rs1588598399
|
|
NM_000264.5(PTCH1):c.1602+12A>G
|
|
|
NM_000264.5(PTCH1):c.1602+13C>G
|
|
|
NM_000264.5(PTCH1):c.1602+14A>G
|
|
|
NM_000264.5(PTCH1):c.1602+16A>C
|
|
|
NM_000264.5(PTCH1):c.1602+16A>G
|
rs1841069539
|
|
NM_000264.5(PTCH1):c.1602+19A>T
|
|
|
NM_000264.5(PTCH1):c.1602+19_1602+20del
|
|
|
NM_000264.5(PTCH1):c.1602+20_1602+22del
|
|
|
NM_000264.5(PTCH1):c.1602+5T>C
|
|
|
NM_000264.5(PTCH1):c.1602+7C>G
|
rs920792441
|
|
NM_000264.5(PTCH1):c.1602+7C>T
|
rs920792441
|
|
NM_000264.5(PTCH1):c.1602+8A>G
|
rs1554698205
|
|
NM_000264.5(PTCH1):c.1602+9A>G
|
|
|
NM_000264.5(PTCH1):c.1603-11T>G
|
|
|
NM_000264.5(PTCH1):c.1603-13T>C
|
|
|
NM_000264.5(PTCH1):c.1603-15T>C
|
|
|
NM_000264.5(PTCH1):c.1603-15T>G
|
|
|
NM_000264.5(PTCH1):c.1603-16_1603-15del
|
rs2118263773
|
|
NM_000264.5(PTCH1):c.1603-19T>G
|
|
|
NM_000264.5(PTCH1):c.1603-20C>T
|
|
|
NM_000264.5(PTCH1):c.1603-4C>T
|
|
|
NM_000264.5(PTCH1):c.1603-6T>C
|
rs2118262896
|
|
NM_000264.5(PTCH1):c.1603-7T>C
|
|
|
NM_000264.5(PTCH1):c.1603-8A>G
|
|
|
NM_000264.5(PTCH1):c.1603-8A>T
|
rs2118263115
|
|
NM_000264.5(PTCH1):c.1603-8del
|
rs2118263201
|
|
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.1623G>C (p.Leu541=)
|
|
|
NM_000264.5(PTCH1):c.1626G>A (p.Lys542=)
|
|
|
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)
|
rs137903539
|
|
NM_000264.5(PTCH1):c.1629C>G (p.Arg543=)
|
rs557468315
|
|
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
|
|
|
NM_000264.5(PTCH1):c.1647C>T (p.Ala549=)
|
rs2118256501
|
|
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
|
|
|
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)
|
rs1318405179
|
|
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=)
|
rs1564046825
|
|
NM_000264.5(PTCH1):c.1677C>T (p.Phe559=)
|
rs2118252807
|
|
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
|
|
|
NM_000264.5(PTCH1):c.1686C>A (p.Ala562=)
|
|
|
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.1689G>T (p.Ala563=)
|
|
|
NM_000264.5(PTCH1):c.168C>T (p.Cys56=)
|
rs2118906879
|
|
NM_000264.5(PTCH1):c.1690T>C (p.Leu564=)
|
|
|
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val)
|
rs778170244
|
|
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=)
|
rs2118250352
|
|
NM_000264.5(PTCH1):c.1707T>C (p.Ala569=)
|
rs2118249592
|
|
NM_000264.5(PTCH1):c.1710G>A (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>C (p.Ala572=)
|
rs55844310
|
|
NM_000264.5(PTCH1):c.171C>T (p.Asp57=)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.1722C>A (p.Ser574=)
|
|
|
NM_000264.5(PTCH1):c.1728+12G>C
|
rs2118247350
|
|
NM_000264.5(PTCH1):c.1728+14G>A
|
|
|
NM_000264.5(PTCH1):c.1728+15A>T
|
rs771991404
|
|
NM_000264.5(PTCH1):c.1728+19A>G
|
rs774363073
|
|
NM_000264.5(PTCH1):c.1728+19del
|
rs2118246919
|
|
NM_000264.5(PTCH1):c.1728+4A>G
|
|
|
NM_000264.5(PTCH1):c.1728+8T>G
|
rs864622243
|
|
NM_000264.5(PTCH1):c.1728+9C>T
|
rs1060504541
|
|
NM_000264.5(PTCH1):c.183T>C (p.Ala61=)
|
rs2118906517
|
|
NM_000264.5(PTCH1):c.192G>A (p.Gln64=)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
|
|
|
NM_000264.5(PTCH1):c.198C>T (p.Ser66=)
|
rs1355794957
|
|
NM_000264.5(PTCH1):c.201+10A>G
|
|
|
NM_000264.5(PTCH1):c.201+11G>C
|
|
|
NM_000264.5(PTCH1):c.201+12A>T
|
|
|
NM_000264.5(PTCH1):c.201+13C>T
|
|
|
NM_000264.5(PTCH1):c.201+14T>A
|
|
|
NM_000264.5(PTCH1):c.201+14TC[2]
|
rs758866712
|
|
NM_000264.5(PTCH1):c.201+15C>G
|
|
|
NM_000264.5(PTCH1):c.201+15C>T
|
|
|
NM_000264.5(PTCH1):c.201+16T>A
|
|
|
NM_000264.5(PTCH1):c.201+16_201+19del
|
|
|
NM_000264.5(PTCH1):c.201+17C>G
|
rs750650083
|
|
NM_000264.5(PTCH1):c.201+17C>T
|
rs750650083
|
|
NM_000264.5(PTCH1):c.201+18T>C
|
rs2118905834
|
|
NM_000264.5(PTCH1):c.201+19C>A
|
rs765308113
|
|
NM_000264.5(PTCH1):c.201+20C>T
|
|
|
NM_000264.5(PTCH1):c.201+8del
|
rs2118906058
|
|
NM_000264.5(PTCH1):c.201+9C>T
|
rs751905115
|
|
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.216C>G (p.Gly72=)
|
rs1383963652
|
|
NM_000264.5(PTCH1):c.222A>G (p.Lys74=)
|
|
|
NM_000264.5(PTCH1):c.228G>C (p.Pro76=)
|
|
|
NM_000264.5(PTCH1):c.229C>T (p.Leu77=)
|
|
|
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
|
|
|
NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
|
|
|
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
|
|
|
NM_000264.5(PTCH1):c.243G>A (p.Ala81=)
|
rs1444883189
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.252G>A (p.Gln84=)
|
rs587780698
|
|
NM_000264.5(PTCH1):c.253A>C (p.Arg85=)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.2561-10C>A
|
rs763935951
|
|
NM_000264.5(PTCH1):c.2561-15A>T
|
|
|
NM_000264.5(PTCH1):c.2561-16C>A
|
rs1588551982
|
|
NM_000264.5(PTCH1):c.2561-17T>C
|
|
|
NM_000264.5(PTCH1):c.2561-20C>G
|
|
|
NM_000264.5(PTCH1):c.2561-8A>G
|
rs2136690155
|
|
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)
|
rs751613059
|
|
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
|
|
|
NM_000264.5(PTCH1):c.258C>A (p.Leu86=)
|
rs1060504533
|
|
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=)
|
rs1839515955
|
|
NM_000264.5(PTCH1):c.2595C>G (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.2611A>G (p.Asn871Asp)
|
|
|
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.2637T>C (p.Asp879=)
|
rs2136688208
|
|
NM_000264.5(PTCH1):c.2643C>G (p.Val881=)
|
rs1588551617
|
|
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
|
|
|
NM_000264.5(PTCH1):c.2659C>T (p.Leu887=)
|
rs2136687780
|
|
NM_000264.5(PTCH1):c.2661G>T (p.Leu887=)
|
rs1487503503
|
|
NM_000264.5(PTCH1):c.2664G>A (p.Val888=)
|
rs2136687667
|
|
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.268C>T (p.Leu90=)
|
rs1587693584
|
|
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=)
|
rs1055193050
|
|
NM_000264.5(PTCH1):c.2703+10C>G
|
rs1390398176
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
NM_000264.5(PTCH1):c.2703+20C>T
|
|
|
NM_000264.5(PTCH1):c.2704-12C>T
|
|
|
NM_000264.5(PTCH1):c.2704-23CT[3]
|
rs2136673668
|
|
NM_000264.5(PTCH1):c.2704-4G>T
|
rs864622248
|
|
NM_000264.5(PTCH1):c.2704-5del
|
rs2136673527
|
|
NM_000264.5(PTCH1):c.2706G>A (p.Leu902=)
|
rs993814839
|
|
NM_000264.5(PTCH1):c.2709T>C (p.Thr903=)
|
|
|
NM_000264.5(PTCH1):c.2721G>C (p.Leu907=)
|
rs2136673149
|
|
NM_000264.5(PTCH1):c.2724G>T (p.Val908=)
|
rs1564021832
|
|
NM_000264.5(PTCH1):c.2727T>C (p.Asp909=)
|
rs1588545040
|
|
NM_000264.5(PTCH1):c.2730A>C (p.Ala910=)
|
|
|
NM_000264.5(PTCH1):c.2730A>G (p.Ala910=)
|
rs1588545017
|
|
NM_000264.5(PTCH1):c.2757C>T (p.Phe919=)
|
rs1588544920
|
|
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
|
|
|
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=)
|
rs1588544909
|
|
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
|
|
|
NM_000264.5(PTCH1):c.2766C>T (p.Tyr922=)
|
rs1554691698
|
|
NM_000264.5(PTCH1):c.2769G>C (p.Leu923=)
|
rs2136672215
|
|
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly)
|
rs786204224
|
|
NM_000264.5(PTCH1):c.2796C>A (p.Val932=)
|
rs747931365
|
|
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
|
|
|
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe)
|
rs1209943415
|
|
NM_000264.5(PTCH1):c.2805T>C (p.Ala935=)
|
rs1588544550
|
|
NM_000264.5(PTCH1):c.2805T>G (p.Ala935=)
|
rs1588544550
|
|
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=)
|
rs1393599414
|
|
NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)
|
|
|
NM_000264.5(PTCH1):c.2811C>T (p.Ser937=)
|
rs2136671267
|
|
NM_000264.5(PTCH1):c.2823C>T (p.Ile941=)
|
rs1839283096
|
|
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.2857G>A (p.Ala953Thr)
|
|
|
NM_000264.5(PTCH1):c.2887+14T>C
|
|
|
NM_000264.5(PTCH1):c.2887+16T>C
|
|
|
NM_000264.5(PTCH1):c.2887+18G>C
|
|
|
NM_000264.5(PTCH1):c.2887+7A>G
|
rs2136669701
|
|
NM_000264.5(PTCH1):c.2888-10C>T
|
rs2136663073
|
|
NM_000264.5(PTCH1):c.2888-12T>G
|
|
|
NM_000264.5(PTCH1):c.2888-13C>T
|
|
|
NM_000264.5(PTCH1):c.2888-15C>G
|
rs1372660225
|
|
NM_000264.5(PTCH1):c.2888-15C>T
|
rs1372660225
|
|
NM_000264.5(PTCH1):c.2888-16G>T
|
rs776279907
|
|
NM_000264.5(PTCH1):c.2888-17dup
|
rs2136663140
|
|
NM_000264.5(PTCH1):c.2888-18G>A
|
|
|
NM_000264.5(PTCH1):c.2888-4C>T
|
rs1411872086
|
|
NM_000264.5(PTCH1):c.2888-9T>C
|
|
|
NM_000264.5(PTCH1):c.288A>G (p.Lys96=)
|
rs1843659466
|
|
NM_000264.5(PTCH1):c.2892G>T (p.Pro964=)
|
|
|
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=)
|
rs1554691433
|
|
NM_000264.5(PTCH1):c.2904C>T (p.Pro968=)
|
|
|
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=)
|
rs748318700
|
|
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys)
|
rs1201956507
|
|
NM_000264.5(PTCH1):c.2916C>G (p.Ala972=)
|
rs1313745659
|
|
NM_000264.5(PTCH1):c.2922C>T (p.Phe974=)
|
rs747385350
|
|
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=)
|
rs2136662510
|
|
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=)
|
rs1588540781
|
|
NM_000264.5(PTCH1):c.2944C>A (p.Arg982=)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=)
|
rs1204950098
|
|
NM_000264.5(PTCH1):c.2952C>T (p.Thr984=)
|
|
|
NM_000264.5(PTCH1):c.2955A>G (p.Ser985=)
|
|
|
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=)
|
rs2136662098
|
|
NM_000264.5(PTCH1):c.2964G>A (p.Val988=)
|
|
|
NM_000264.5(PTCH1):c.2970A>T (p.Ala990=)
|
rs112405848
|
|
NM_000264.5(PTCH1):c.297C>G (p.Gly99=)
|
rs772407797
|
|
NM_000264.5(PTCH1):c.2982A>T (p.Val994=)
|
rs1588540533
|
|
NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=)
|
rs2136661651
|
|
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=)
|
rs1060502298
|
|
NM_000264.5(PTCH1):c.3009C>T (p.Ser1003=)
|
|
|
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=)
|
|
|
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=)
|
rs863224350
|
|
NM_000264.5(PTCH1):c.3018G>C (p.Leu1006=)
|
rs863224350
|
|
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.3063C>T (p.Tyr1021=)
|
rs777191105
|
|
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3069C>A (p.Gly1023=)
|
rs767289081
|
|
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.3085C>T (p.Leu1029=)
|
rs776739985
|
|
NM_000264.5(PTCH1):c.3087G>A (p.Leu1029=)
|
rs2136660541
|
|
NM_000264.5(PTCH1):c.3096C>T (p.Ile1032=)
|
rs1839105109
|
|
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=)
|
rs2136660293
|
|
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
|
|
|
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>A (p.Leu1041=)
|
rs1554691356
|
|
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=)
|
rs1554691356
|
|
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)
|
rs138458710
|
|
NM_000264.5(PTCH1):c.315C>G (p.Gly105=)
|
rs1060504542
|
|
NM_000264.5(PTCH1):c.3162G>A (p.Gly1054=)
|
rs1588539563
|
|
NM_000264.5(PTCH1):c.3168+11dup
|
|
|
NM_000264.5(PTCH1):c.3168+12A>T
|
|
|
NM_000264.5(PTCH1):c.3168+13T>C
|
|
|
NM_000264.5(PTCH1):c.3168+19G>A
|
|
|
NM_000264.5(PTCH1):c.3168+20C>T
|
|
|
NM_000264.5(PTCH1):c.3169-10C>A
|
|
|
NM_000264.5(PTCH1):c.3169-12G>T
|
|
|
NM_000264.5(PTCH1):c.3169-14G>A
|
rs2136650773
|
|
NM_000264.5(PTCH1):c.3169-15T>C
|
|
|
NM_000264.5(PTCH1):c.3169-16G>A
|
|
|
NM_000264.5(PTCH1):c.3169-17T>C
|
|
|
NM_000264.5(PTCH1):c.3169-18C>G
|
|
|
NM_000264.5(PTCH1):c.3169-18C>T
|
|
|
NM_000264.5(PTCH1):c.3169-19A>G
|
|
|
NM_000264.5(PTCH1):c.3169-20C>A
|
rs780801234
|
|
NM_000264.5(PTCH1):c.3169-4C>G
|
|
|
NM_000264.5(PTCH1):c.3169-6C>T
|
rs1588536035
|
|
NM_000264.5(PTCH1):c.3169-7G>A
|
rs1588536043
|
|
NM_000264.5(PTCH1):c.3169-7G>C
|
rs1588536043
|
|
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=)
|
rs2136650471
|
|
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=)
|
rs757268536
|
|
NM_000264.5(PTCH1):c.3181G>A (p.Ala1061Thr)
|
rs767617256
|
|
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.3201G>A (p.Leu1067=)
|
|
|
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val)
|
rs768302786
|
|
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=)
|
rs2136649380
|
|
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.3243G>A (p.Val1081=)
|
rs763288802
|
|
NM_000264.5(PTCH1):c.3249G>T (p.Val1083=)
|
|
|
NM_000264.5(PTCH1):c.3252C>G (p.Val1084=)
|
rs201094264
|
|
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
|
|
|
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=)
|
rs768215021
|
|
NM_000264.5(PTCH1):c.3264T>C (p.Ala1088=)
|
rs1361137530
|
|
NM_000264.5(PTCH1):c.3270T>C (p.Val1090=)
|
|
|
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met)
|
rs1227312736
|
|
NM_000264.5(PTCH1):c.327T>C (p.Phe109=)
|
rs2118876372
|
|
NM_000264.5(PTCH1):c.3300T>G (p.Val1100=)
|
|
|
NM_000264.5(PTCH1):c.3304T>C (p.Leu1102=)
|
|
|
NM_000264.5(PTCH1):c.3306+11C>A
|
rs1375317234
|
|
NM_000264.5(PTCH1):c.3306+11C>T
|
|
|
NM_000264.5(PTCH1):c.3306+12A>G
|
|
|
NM_000264.5(PTCH1):c.3306+15T>C
|
|
|
NM_000264.5(PTCH1):c.3306+16G>A
|
rs780151010
|
|
NM_000264.5(PTCH1):c.3306+20C>G
|
|
|
NM_000264.5(PTCH1):c.3306+20C>T
|
|
|
NM_000264.5(PTCH1):c.3306+6G>A
|
rs777678813
|
|
NM_000264.5(PTCH1):c.3306+7G>A
|
rs1382563617
|
|
NM_000264.5(PTCH1):c.3307-12C>T
|
|
|
NM_000264.5(PTCH1):c.3307-13C>T
|
|
|
NM_000264.5(PTCH1):c.3307-17A>G
|
|
|
NM_000264.5(PTCH1):c.3307-18A>G
|
|
|
NM_000264.5(PTCH1):c.3307-4A>C
|
rs1554690494
|
|
NM_000264.5(PTCH1):c.3307-6G>A
|
|
|
NM_000264.5(PTCH1):c.3307-6G>T
|
|
|
NM_000264.5(PTCH1):c.3307-7T>C
|
rs878853855
|
|
NM_000264.5(PTCH1):c.3307-8T>C
|
|
|
NM_000264.5(PTCH1):c.330G>A (p.Gly110=)
|
|
|
NM_000264.5(PTCH1):c.3312T>C (p.Phe1104=)
|
|
|
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=)
|
rs942699337
|
|
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr)
|
rs777897973
|
|
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.3342G>A (p.Arg1114=)
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3354C>G (p.Ala1118=)
|
rs1554690459
|
|
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=)
|
rs1554690458
|
|
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
|
|
|
NM_000264.5(PTCH1):c.3369T>C (p.Phe1123=)
|
rs2136631715
|
|
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=)
|
rs369760318
|
|
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=)
|
|
|
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=)
|
rs1032072492
|
|
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
|
|
|
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=)
|
rs1267662604
|
|
NM_000264.5(PTCH1):c.339G>C (p.Ala113=)
|
rs756224406
|
|
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
|
|
|
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.3420G>A (p.Leu1140=)
|
rs748023135
|
|
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)
|
rs745948150
|
|
NM_000264.5(PTCH1):c.3426A>T (p.Gly1142=)
|
|
|
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=)
|
rs2136630962
|
|
NM_000264.5(PTCH1):c.3444T>C (p.Ile1148=)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3449+11G>C
|
|
|
NM_000264.5(PTCH1):c.3449+13G>T
|
|
|
NM_000264.5(PTCH1):c.3449+16C>T
|
rs1838648315
|
|
NM_000264.5(PTCH1):c.3449+17A>C
|
|
|
NM_000264.5(PTCH1):c.3449+8G>A
|
rs2136630748
|
|
NM_000264.5(PTCH1):c.3449+9G>A
|
rs1554690376
|
|
NM_000264.5(PTCH1):c.3450-13C>G
|
rs2136608603
|
|
NM_000264.5(PTCH1):c.3450-14T>A
|
|
|
NM_000264.5(PTCH1):c.3450-16C>T
|
|
|
NM_000264.5(PTCH1):c.3450-17T>G
|
|
|
NM_000264.5(PTCH1):c.3450-20G>C
|
|
|
NM_000264.5(PTCH1):c.3450-5C>T
|
rs2136608556
|
|
NM_000264.5(PTCH1):c.3450-8T>C
|
rs1045599342
|
|
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=)
|
rs2136608496
|
|
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=)
|
rs950019214
|
|
NM_000264.5(PTCH1):c.3483C>A (p.Ile1161=)
|
rs761421461
|
|
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=)
|
|
|
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.3501G>T (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg)
|
rs1234085004
|
|
NM_000264.5(PTCH1):c.3513T>C (p.Leu1171=)
|
rs2136607744
|
|
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=)
|
rs930364103
|
|
NM_000264.5(PTCH1):c.3549+10G>C
|
rs587780703
|
|
NM_000264.5(PTCH1):c.3549+11A>G
|
|
|
NM_000264.5(PTCH1):c.3549+15G>A
|
rs1444040515
|
|
NM_000264.5(PTCH1):c.3549+17G>T
|
|
|
NM_000264.5(PTCH1):c.3549+18G>A
|
|
|
NM_000264.5(PTCH1):c.3550-11C>G
|
|
|
NM_000264.5(PTCH1):c.3550-11C>T
|
|
|
NM_000264.5(PTCH1):c.3550-15A>G
|
rs1337486945
|
|
NM_000264.5(PTCH1):c.3550-19A>G
|
rs2136603435
|
|
NM_000264.5(PTCH1):c.3550-20C>A
|
rs2136603455
|
|
NM_000264.5(PTCH1):c.3550-4dup
|
|
|
NM_000264.5(PTCH1):c.3550-9C>G
|
rs1410226185
|
|
NM_000264.5(PTCH1):c.3550-9C>T
|
rs1410226185
|
|
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=)
|
rs2136603020
|
|
NM_000264.5(PTCH1):c.3552G>T (p.Val1184=)
|
rs2136603020
|
|
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=)
|
rs1398908173
|
|
NM_000264.5(PTCH1):c.3555T>G (p.Ser1185=)
|
rs1398908173
|
|
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
|
|
|
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=)
|
|
|
NM_000264.5(PTCH1):c.3582C>T (p.Pro1194=)
|
|
|
NM_000264.5(PTCH1):c.3597G>A (p.Glu1199=)
|
rs2136601860
|
|
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=)
|
rs1588517717
|
|
NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)
|
|
|
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>A (p.Val1204=)
|
rs2136601481
|
|
NM_000264.5(PTCH1):c.3615C>T (p.Val1205=)
|
|
|
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
|
|
|
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val)
|
rs776424978
|
|
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.3651G>A (p.Gly1217=)
|
|
|
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=)
|
rs1432605045
|
|
NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys)
|
rs1167693193
|
|
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=)
|
rs2136600344
|
|
NM_000264.5(PTCH1):c.3659C>G (p.Ser1220Cys)
|
rs1375226181
|
|
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.366G>A (p.Glu122=)
|
rs1479871006
|
|
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp)
|
rs1479871006
|
|
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=)
|
|
|
NM_000264.5(PTCH1):c.3675T>C (p.Tyr1225=)
|
rs1588517196
|
|
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=)
|
rs1588517173
|
|
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=)
|
|
|
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=)
|
rs2136599643
|
|
NM_000264.5(PTCH1):c.3690A>G (p.Thr1230=)
|
|
|
NM_000264.5(PTCH1):c.3690A>T (p.Thr1230=)
|
|
|
NM_000264.5(PTCH1):c.3692_3693inv (p.Val1231Ala)
|
|
|
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.3702C>T (p.Leu1234=)
|
|
|
NM_000264.5(PTCH1):c.3711G>A (p.Glu1237=)
|
|
|
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro)
|
rs758728491
|
|
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=)
|
rs1299281832
|
|
NM_000264.5(PTCH1):c.3720C>T (p.His1240=)
|
|
|
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
|
|
|
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)
|
rs763779667
|
|
NM_000264.5(PTCH1):c.3732G>A (p.Gln1244=)
|
rs2136598143
|
|
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
|
|
|
NM_000264.5(PTCH1):c.3744A>G (p.Gly1248=)
|
|
|
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)
|
rs769446796
|
|
NM_000264.5(PTCH1):c.3747C>T (p.Gly1249=)
|
rs1588516878
|
|
NM_000264.5(PTCH1):c.3758A>C (p.Gln1253Pro)
|
|
|
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
|
|
|
NM_000264.5(PTCH1):c.3764T>C (p.Ile1255Thr)
|
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)
|
rs150850039
|
|
NM_000264.5(PTCH1):c.378G>A (p.Glu126=)
|
|
|
NM_000264.5(PTCH1):c.3804+10T>A
|
rs763314823
|
|
NM_000264.5(PTCH1):c.3804+11C>T
|
rs2136596246
|
|
NM_000264.5(PTCH1):c.3804+11_3804+12del
|
|
|
NM_000264.5(PTCH1):c.3804+14C>T
|
rs1027523327
|
|
NM_000264.5(PTCH1):c.3804+19C>T
|
|
|
NM_000264.5(PTCH1):c.3804+20C>A
|
|
|
NM_000264.5(PTCH1):c.3804+20C>T
|
|
|
NM_000264.5(PTCH1):c.3805-12C>A
|
|
|
NM_000264.5(PTCH1):c.3805-14C>T
|
rs771678354
|
|
NM_000264.5(PTCH1):c.3805-15C>T
|
|
|
NM_000264.5(PTCH1):c.3805-17A>C
|
|
|
NM_000264.5(PTCH1):c.3805-19C>A
|
|
|
NM_000264.5(PTCH1):c.3805-32_3805-14del
|
rs1838061359
|
|
NM_000264.5(PTCH1):c.3805-4G>A
|
rs1060504537
|
|
NM_000264.5(PTCH1):c.3805-7T>G
|
|
|
NM_000264.5(PTCH1):c.3805-8C>T
|
rs1056411006
|
|
NM_000264.5(PTCH1):c.3805-9C>A
|
rs2236404
|
|
NM_000264.5(PTCH1):c.3805-9C>G
|
rs2236404
|
|
NM_000264.5(PTCH1):c.3807G>C (p.Val1269=)
|
rs1588512522
|
|
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
|
|
|
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)
|
rs1298467711
|
|
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=)
|
rs369295226
|
|
NM_000264.5(PTCH1):c.3818A>C (p.Glu1273Ala)
|
|
|
NM_000264.5(PTCH1):c.381G>A (p.Glu127=)
|
rs1232294231
|
|
NM_000264.5(PTCH1):c.381G>C (p.Glu127Asp)
|
|
|
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
|
|
|
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=)
|
rs1588512429
|
|
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
|
|
|
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=)
|
rs750770371
|
|
NM_000264.5(PTCH1):c.3855G>A (p.Gln1285=)
|
rs1319416238
|
|
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His)
|
rs1278213544
|
|
NM_000264.5(PTCH1):c.3858C>G (p.Pro1286=)
|
rs1222530728
|
|
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=)
|
rs1222530728
|
|
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=)
|
rs587780704
|
|
NM_000264.5(PTCH1):c.3873G>A (p.Gly1291=)
|
rs2136583413
|
|
NM_000264.5(PTCH1):c.3882T>C (p.Pro1294=)
|
rs2136583157
|
|
NM_000264.5(PTCH1):c.3894A>G (p.Gln1298=)
|
|
|
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=)
|
|
|
NM_000264.5(PTCH1):c.3903G>A (p.Gln1301=)
|
rs2136582488
|
|
NM_000264.5(PTCH1):c.3906C>T (p.Pro1302=)
|
rs2136582395
|
|
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=)
|
rs1458552244
|
|
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=)
|
rs757702954
|
|
NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser)
|
rs757702954
|
|
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn)
|
rs368528885
|
|
NM_000264.5(PTCH1):c.3915C>T (p.Asp1305=)
|
|
|
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
|
|
|
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu)
|
rs181585555
|
|
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.3930C>G (p.Gly1310=)
|
rs769743412
|
|
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.3939A>T (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.394+10C>G
|
rs755119764
|
|
NM_000264.5(PTCH1):c.394+13G>C
|
|
|
NM_000264.5(PTCH1):c.394+13_394+30del
|
|
|
NM_000264.5(PTCH1):c.394+14_394+33del
|
rs2118871805
|
|
NM_000264.5(PTCH1):c.394+15C>A
|
|
|
NM_000264.5(PTCH1):c.394+15_394+26del
|
rs762616418
|
|
NM_000264.5(PTCH1):c.394+15del
|
|
|
NM_000264.5(PTCH1):c.394+16G>C
|
|
|
NM_000264.5(PTCH1):c.394+17C>T
|
|
|
NM_000264.5(PTCH1):c.394+18G>C
|
rs749589611
|
|
NM_000264.5(PTCH1):c.394+20C>T
|
|
|
NM_000264.5(PTCH1):c.394+8C>G
|
rs1373035322
|
|
NM_000264.5(PTCH1):c.394+8C>T
|
|
|
NM_000264.5(PTCH1):c.394+9G>C
|
rs1587692775
|
|
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=)
|
rs1406247800
|
|
NM_000264.5(PTCH1):c.395-11A>G
|
rs748299945
|
|
NM_000264.5(PTCH1):c.395-11A>T
|
|
|
NM_000264.5(PTCH1):c.395-13A>G
|
|
|
NM_000264.5(PTCH1):c.395-14T>A
|
rs2118552430
|
|
NM_000264.5(PTCH1):c.395-15G>A
|
|
|
NM_000264.5(PTCH1):c.395-18C>G
|
|
|
NM_000264.5(PTCH1):c.395-18C>T
|
|
|
NM_000264.5(PTCH1):c.395-5G>C
|
|
|
NM_000264.5(PTCH1):c.395-7T>G
|
rs2118551966
|
|
NM_000264.5(PTCH1):c.395-8T>C
|
rs755013836
|
|
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)
|
rs1554688549
|
|
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
|
|
|
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe)
|
rs764964224
|
|
NM_000264.5(PTCH1):c.3981T>C (p.Thr1327=)
|
rs1588511470
|
|
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.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.4008G>A (p.Arg1336=)
|
rs1838019496
|
|
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4020C>G (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4021C>T (p.Pro1341Ser)
|
|
|
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu)
|
rs748609458
|
|
NM_000264.5(PTCH1):c.4026C>A (p.Arg1342=)
|
|
|
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=)
|
rs750057721
|
|
NM_000264.5(PTCH1):c.402A>C (p.Gly134=)
|
|
|
NM_000264.5(PTCH1):c.4032C>T (p.Ala1344=)
|
rs1838013057
|
|
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.4051A>G (p.Asn1351Asp)
|
rs786204103
|
|
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val)
|
rs757909121
|
|
NM_000264.5(PTCH1):c.4077C>T (p.Ser1359=)
|
|
|
NM_000264.5(PTCH1):c.4080C>A (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.408A>G (p.Val136=)
|
|
|
NM_000264.5(PTCH1):c.4092C>T (p.Tyr1364=)
|
rs2136576724
|
|
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=)
|
rs864622569
|
|
NM_000264.5(PTCH1):c.4101C>T (p.Pro1367=)
|
|
|
NM_000264.5(PTCH1):c.4110T>C (p.Thr1370=)
|
|
|
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.4125C>G (p.Ala1375=)
|
|
|
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=)
|
rs775974258
|
|
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=)
|
rs2136575661
|
|
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
|
|
|
NM_000264.5(PTCH1):c.4143G>A (p.Val1381=)
|
rs2136575217
|
|
NM_000264.5(PTCH1):c.4149G>T (p.Pro1383=)
|
|
|
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=)
|
rs2136574783
|
|
NM_000264.5(PTCH1):c.4158C>T (p.Val1386=)
|
|
|
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
|
|
|
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=)
|
rs45535032
|
|
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=)
|
rs1057521043
|
|
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)
|
rs1057521043
|
|
NM_000264.5(PTCH1):c.417A>G (p.Glu139=)
|
rs755854293
|
|
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.4194C>T (p.Cys1398=)
|
|
|
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
|
|
|
NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)
|
|
|
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.4209G>A (p.Glu1403=)
|
rs1588510050
|
|
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=)
|
rs2136573135
|
|
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>G (p.Pro1412=)
|
rs369083374
|
|
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=)
|
rs369083374
|
|
NM_000264.5(PTCH1):c.4242G>A (p.Val1414=)
|
rs1390378010
|
|
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.4257G>T (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.426T>C (p.Tyr142=)
|
|
|
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
|
|
|
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
|
|
|
NM_000264.5(PTCH1):c.4278G>A (p.Lys1426=)
|
|
|
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.429T>C (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.429T>G (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=)
|
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
|
|
|
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=)
|
rs1325469372
|
|
NM_000264.5(PTCH1):c.4343G>A (p.Ter1448=)
|
rs2136570427
|
|
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
|
|
|
NM_000264.5(PTCH1):c.453T>C (p.Ala151=)
|
|
|
NM_000264.5(PTCH1):c.453T>G (p.Ala151=)
|
rs879188085
|
|
NM_000264.5(PTCH1):c.468A>C (p.Gln156His)
|
rs200729445
|
|
NM_000264.5(PTCH1):c.468A>G (p.Gln156=)
|
rs200729445
|
|
NM_000264.5(PTCH1):c.471C>T (p.Leu157=)
|
|
|
NM_000264.5(PTCH1):c.480G>A (p.Gln160=)
|
rs1841921572
|
|
NM_000264.5(PTCH1):c.489A>G (p.Lys163=)
|
rs2118544161
|
|
NM_000264.5(PTCH1):c.501T>A (p.Ala167=)
|
rs1841918369
|
|
NM_000264.5(PTCH1):c.501T>C (p.Ala167=)
|
rs1841918369
|
|
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.508C>T (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.522G>T (p.Ala174=)
|
rs891032185
|
|
NM_000264.5(PTCH1):c.525C>T (p.Leu175=)
|
rs1554702079
|
|
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
|
|
|
NM_000264.5(PTCH1):c.555C>T (p.Ala185=)
|
rs1197767332
|
|
NM_000264.5(PTCH1):c.564C>A (p.Val188=)
|
|
|
NM_000264.5(PTCH1):c.564C>G (p.Val188=)
|
rs963079015
|
|
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
|
|
|
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
|
|
|
NM_000264.5(PTCH1):c.570A>G (p.Val190=)
|
rs1292107414
|
|
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=)
|
rs1249050389
|
|
NM_000264.5(PTCH1):c.582C>T (p.Asn194=)
|
rs2118537361
|
|
NM_000264.5(PTCH1):c.584+10G>C
|
rs765713791
|
|
NM_000264.5(PTCH1):c.584+16T>A
|
|
|
NM_000264.5(PTCH1):c.584+16T>G
|
|
|
NM_000264.5(PTCH1):c.584+18C>G
|
|
|
NM_000264.5(PTCH1):c.584+20C>T
|
|
|
NM_000264.5(PTCH1):c.584+8C>T
|
|
|
NM_000264.5(PTCH1):c.585-10A>G
|
|
|
NM_000264.5(PTCH1):c.585-11_585-7del
|
rs1588614760
|
|
NM_000264.5(PTCH1):c.585-17_585-13del
|
rs776103507
|
|
NM_000264.5(PTCH1):c.585-20T>G
|
|
|
NM_000264.5(PTCH1):c.585-5A>G
|
rs1588614746
|
|
NM_000264.5(PTCH1):c.595T>C (p.Leu199=)
|
rs2118474956
|
|
NM_000264.5(PTCH1):c.600A>G (p.Glu200=)
|
|
|
NM_000264.5(PTCH1):c.606G>A (p.Leu202=)
|
rs769719333
|
|
NM_000264.5(PTCH1):c.612C>T (p.Tyr204=)
|
|
|
NM_000264.5(PTCH1):c.618A>C (p.Ser206=)
|
|
|
NM_000264.5(PTCH1):c.618A>G (p.Ser206=)
|
rs1841594710
|
|
NM_000264.5(PTCH1):c.633A>G (p.Thr211=)
|
|
|
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=)
|
rs878853858
|
|
NM_000264.5(PTCH1):c.654+10C>G
|
|
|
NM_000264.5(PTCH1):c.654+12T>G
|
rs1841588620
|
|
NM_000264.5(PTCH1):c.654+13C>A
|
|
|
NM_000264.5(PTCH1):c.654+16G>C
|
|
|
NM_000264.5(PTCH1):c.654+17T>C
|
|
|
NM_000264.5(PTCH1):c.654+19G>A
|
|
|
NM_000264.5(PTCH1):c.654+19G>T
|
|
|
NM_000264.5(PTCH1):c.654+7T>A
|
rs1588614471
|
|
NM_000264.5(PTCH1):c.654+8T>G
|
rs2118471579
|
|
NM_000264.5(PTCH1):c.654+9T>C
|
rs1554700690
|
|
NM_000264.5(PTCH1):c.655-11A>G
|
|
|
NM_000264.5(PTCH1):c.655-17_655-15del
|
|
|
NM_000264.5(PTCH1):c.655-20C>A
|
|
|
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
|
|
|
NM_000264.5(PTCH1):c.657A>T (p.Ile219=)
|
rs1425544626
|
|
NM_000264.5(PTCH1):c.663A>G (p.Glu221=)
|
rs1479973586
|
|
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)
|
rs1266754583
|
|
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=)
|
rs1588614178
|
|
NM_000264.5(PTCH1):c.690A>G (p.Thr230=)
|
rs2118464335
|
|
NM_000264.5(PTCH1):c.692C>T (p.Pro231Leu)
|
|
|
NM_000264.5(PTCH1):c.694T>C (p.Leu232=)
|
|
|
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
|
|
|
NM_000264.5(PTCH1):c.711A>G (p.Glu237=)
|
rs1588614118
|
|
NM_000264.5(PTCH1):c.714G>C (p.Gly238=)
|
|
|
NM_000264.5(PTCH1):c.721T>C (p.Leu241=)
|
rs1554700612
|
|
NM_000264.5(PTCH1):c.723A>G (p.Leu241=)
|
rs2118461122
|
|
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
|
|
|
NM_000264.5(PTCH1):c.744C>G (p.Leu248=)
|
rs2118458881
|
|
NM_000264.5(PTCH1):c.746+10T>A
|
rs1554700563
|
|
NM_000264.5(PTCH1):c.746+11G>A
|
|
|
NM_000264.5(PTCH1):c.746+11G>C
|
rs774992791
|
|
NM_000264.5(PTCH1):c.746+12A>T
|
|
|
NM_000264.5(PTCH1):c.746+13T>C
|
rs1014606258
|
|
NM_000264.5(PTCH1):c.746+14C>G
|
|
|
NM_000264.5(PTCH1):c.746+6TG[4]
|
rs770615351
|
|
NM_000264.5(PTCH1):c.746+9G>A
|
|
|
NM_000264.5(PTCH1):c.747-12T>C
|
|
|
NM_000264.5(PTCH1):c.747-14A>G
|
rs373907227
|
|
NM_000264.5(PTCH1):c.747-16C>T
|
|
|
NM_000264.5(PTCH1):c.747-17C>G
|
rs1841460679
|
|
NM_000264.5(PTCH1):c.747-17C>T
|
|
|
NM_000264.5(PTCH1):c.747-19C>T
|
rs555297981
|
|
NM_000264.5(PTCH1):c.747-6T>C
|
rs2118429284
|
|
NM_000264.5(PTCH1):c.747-9C>G
|
|
|
NM_000264.5(PTCH1):c.747-9del
|
rs1841459388
|
|
NM_000264.5(PTCH1):c.756T>A (p.Pro252=)
|
rs2118428399
|
|
NM_000264.5(PTCH1):c.759T>C (p.Pro253=)
|
rs1588610513
|
|
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu)
|
rs779870576
|
|
NM_000264.5(PTCH1):c.765G>A (p.Arg255=)
|
|
|
NM_000264.5(PTCH1):c.765G>T (p.Arg255=)
|
rs2118427794
|
|
NM_000264.5(PTCH1):c.771A>G (p.Thr257=)
|
rs2118427410
|
|
NM_000264.5(PTCH1):c.774C>T (p.Asn258=)
|
|
|
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)
|
rs368102115
|
|
NM_000264.5(PTCH1):c.780C>T (p.Asp260=)
|
rs2118426797
|
|
NM_000264.5(PTCH1):c.783T>C (p.Pro261=)
|
rs1554699996
|
|
NM_000264.5(PTCH1):c.783T>G (p.Pro261=)
|
rs1554699996
|
|
NM_000264.5(PTCH1):c.792C>T (p.Phe264=)
|
rs2118425622
|
|
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
|
|
|
NM_000264.5(PTCH1):c.807G>A (p.Lys269=)
|
rs2118423662
|
|
NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)
|
|
|
NM_000264.5(PTCH1):c.825G>A (p.Val275=)
|
rs2118421809
|
|
NM_000264.5(PTCH1):c.831C>T (p.Ser277=)
|
rs773794742
|
|
NM_000264.5(PTCH1):c.852G>A (p.Lys284=)
|
rs2118419496
|
|
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
|
|
|
NM_000264.5(PTCH1):c.855T>G (p.Ala285=)
|
rs1060504539
|
|
NM_000264.5(PTCH1):c.861T>C (p.Val287=)
|
rs2118418760
|
|
NM_000264.5(PTCH1):c.864T>C (p.Gly288=)
|
|
|
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
|
|
|
NM_000264.5(PTCH1):c.867T>C (p.His289=)
|
rs1319404006
|
|
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
|
rs748727674
|
|
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)
|
rs776187586
|
|
NM_000264.5(PTCH1):c.881G>C (p.Arg294Pro)
|
rs878853859
|
|
NM_000264.5(PTCH1):c.882C>A (p.Arg294=)
|
rs145893445
|
|
NM_000264.5(PTCH1):c.885C>G (p.Pro295=)
|
|
|
NM_000264.5(PTCH1):c.891C>G (p.Leu297=)
|
|
|
NM_000264.5(PTCH1):c.897G>C (p.Pro299=)
|
rs56141639
|
|
NM_000264.5(PTCH1):c.900C>G (p.Ala300=)
|
rs201962105
|
|
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
|
|
|
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
|
|
|
NM_000264.5(PTCH1):c.921A>G (p.Thr307=)
|
rs763339917
|
|
NM_000264.5(PTCH1):c.927C>A (p.Pro309=)
|
|
|
NM_000264.5(PTCH1):c.939A>G (p.Ser313=)
|
rs1841439010
|
|
NM_000264.5(PTCH1):c.945+12C>G
|
rs2118409985
|
|
NM_000264.5(PTCH1):c.945+19C>A
|
rs538776608
|
|
NM_000264.5(PTCH1):c.945+8C>G
|
|
|
NM_000264.5(PTCH1):c.945+8C>T
|
|
|
NM_000264.5(PTCH1):c.945+9C>A
|
|
|
NM_000264.5(PTCH1):c.945+9C>G
|
rs878853860
|
|
NM_000264.5(PTCH1):c.946-11T>A
|
|
|
NM_000264.5(PTCH1):c.946-13C>G
|
|
|
NM_000264.5(PTCH1):c.946-14T>C
|
|
|
NM_000264.5(PTCH1):c.946-14T>G
|
|
|
NM_000264.5(PTCH1):c.946-18G>A
|
rs1447732065
|
|
NM_000264.5(PTCH1):c.946-5T>A
|
rs1588608882
|
|
NM_000264.5(PTCH1):c.946-6T>C
|
|
|
NM_000264.5(PTCH1):c.946-7A>T
|
|
|
NM_000264.5(PTCH1):c.946-8T>C
|
rs202011325
|
|
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
|
|
|
NM_000264.5(PTCH1):c.963T>C (p.Leu321=)
|
rs1588608777
|
|
NM_000264.5(PTCH1):c.978A>C (p.Gly326=)
|
|
|
NM_000264.5(PTCH1):c.978A>T (p.Gly326=)
|
rs2118394366
|
|
NM_000264.5(PTCH1):c.981T>C (p.Cys327=)
|
rs2118394148
|
|
NM_000264.5(PTCH1):c.983A>T (p.His328Leu)
|
rs1484111496
|
|
NM_000264.5(PTCH1):c.987C>T (p.Gly329=)
|
|
|
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
|
|
|