NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)
|
rs2066836
|
0.15395
|
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=)
|
rs1805155
|
0.12597
|
NM_000264.5(PTCH1):c.1504-8T>C
|
rs2277184
|
0.07277
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)
|
rs2066835
|
0.03773
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)
|
rs138240178
|
0.01089
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
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.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)
|
rs58629309
|
0.00466
|
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)
|
rs111446700
|
0.00379
|
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)
|
rs182045135
|
0.00128
|
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.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
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.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
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.3907C>T (p.Arg1303Cys)
|
rs56102979
|
0.00041
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
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.3150C>T (p.Pro1050=)
|
rs149398794
|
0.00021
|
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.3251T>C (p.Val1084Ala)
|
rs1463935039
|
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.2771C>T (p.Thr924Met)
|
rs1456450494
|
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.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.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.2689A>G (p.Ile897Val)
|
rs758483793
|
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.4255C>T (p.Arg1419Trp)
|
rs139942632
|
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.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.1223A>G (p.His408Arg)
|
rs763941524
|
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.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)
|
rs749542089
|
0.00004
|
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)
|
rs762040036
|
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.3817G>A (p.Glu1273Lys)
|
rs749244396
|
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.404G>A (p.Arg135Gln)
|
rs375628555
|
0.00004
|
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=)
|
rs368110756
|
0.00004
|
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn)
|
rs745451899
|
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.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.208G>A (p.Ala70Thr)
|
rs753960393
|
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.2792C>G (p.Pro931Arg)
|
rs772928587
|
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.3371C>T (p.Ala1124Val)
|
rs374187104
|
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.3758A>G (p.Gln1253Arg)
|
rs146390067
|
0.00003
|
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys)
|
rs774822170
|
0.00003
|
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)
|
rs938997251
|
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.4012C>T (p.Arg1338Cys)
|
rs374346190
|
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.4144C>T (p.His1382Tyr)
|
rs377484697
|
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.4186G>A (p.Gly1396Arg)
|
rs1060502276
|
0.00003
|
NM_000264.5(PTCH1):c.4251C>T (p.His1417=)
|
rs371960721
|
0.00003
|
NM_000264.5(PTCH1):c.4312G>A (p.Glu1438Lys)
|
rs768254901
|
0.00003
|
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser)
|
rs746800536
|
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.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.947C>A (p.Pro316His)
|
rs143813198
|
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.1069G>A (p.Ala357Thr)
|
rs779204091
|
0.00002
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)
|
rs937023804
|
0.00002
|
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His)
|
rs1349048226
|
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.1351G>A (p.Ala451Thr)
|
rs142791675
|
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.2797G>A (p.Ala933Thr)
|
rs373120584
|
0.00002
|
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser)
|
rs778337760
|
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.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.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.3623C>T (p.Ala1208Val)
|
rs914090288
|
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.3686C>T (p.Thr1229Met)
|
rs781080456
|
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.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.388G>A (p.Val130Met)
|
rs746339472
|
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.4030G>T (p.Ala1344Ser)
|
rs765017975
|
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.4129G>A (p.Val1377Met)
|
rs745337014
|
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.4235C>T (p.Pro1412Leu)
|
rs766849993
|
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.4322C>T (p.Pro1441Leu)
|
rs775192032
|
0.00002
|
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
NM_000264.5(PTCH1):c.655-5G>T
|
rs776683312
|
0.00002
|
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val)
|
rs768776930
|
0.00002
|
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu)
|
rs376353501
|
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.955A>G (p.Met319Val)
|
rs1438545679
|
0.00002
|
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys)
|
rs1841406856
|
0.00001
|
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=)
|
rs748171767
|
0.00001
|
NM_000264.5(PTCH1):c.1024A>C (p.Ile342Leu)
|
rs1245184042
|
0.00001
|
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr)
|
rs1841403085
|
0.00001
|
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)
|
rs962982192
|
0.00001
|
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)
|
rs1476325987
|
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.1099A>G (p.Met367Val)
|
rs753152792
|
0.00001
|
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg)
|
rs768024586
|
0.00001
|
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=)
|
rs758977865
|
0.00001
|
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile)
|
rs1841328115
|
0.00001
|
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)
|
rs863224648
|
0.00001
|
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=)
|
rs587780690
|
0.00001
|
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)
|
rs772903899
|
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.1193C>T (p.Ala398Val)
|
rs375098989
|
0.00001
|
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His)
|
rs1277111019
|
0.00001
|
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=)
|
rs1234871751
|
0.00001
|
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met)
|
rs756949381
|
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.1246A>G (p.Thr416Ala)
|
rs952195482
|
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.1274C>T (p.Thr425Met)
|
rs768956985
|
0.00001
|
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=)
|
rs1164371538
|
0.00001
|
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)
|
rs778455544
|
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.1345A>G (p.Met449Val)
|
rs1423684260
|
0.00001
|
NM_000264.5(PTCH1):c.1347+5C>T
|
rs567257548
|
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.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.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.1625A>G (p.Lys542Arg)
|
rs758673714
|
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.1642G>A (p.Val548Met)
|
rs575035810
|
0.00001
|
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)
|
rs759078774
|
0.00001
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala)
|
rs772312984
|
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.182C>G (p.Ala61Gly)
|
rs1296707371
|
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.226C>T (p.Pro76Ser)
|
rs997156828
|
0.00001
|
NM_000264.5(PTCH1):c.228G>A (p.Pro76=)
|
rs140542305
|
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.2676C>G (p.Ser892Arg)
|
rs1427672162
|
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.2695A>G (p.Ile899Val)
|
rs765371196
|
0.00001
|
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn)
|
rs762152128
|
0.00001
|
NM_000264.5(PTCH1):c.2704-3T>C
|
rs1208489068
|
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.2737A>G (p.Ile913Val)
|
rs147643145
|
0.00001
|
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)
|
rs1305314328
|
0.00001
|
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val)
|
rs1441750517
|
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.2839G>C (p.Glu947Gln)
|
rs768039033
|
0.00001
|
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn)
|
rs1588544328
|
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.2891C>T (p.Pro964Leu)
|
rs377120922
|
0.00001
|
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)
|
rs758907408
|
0.00001
|
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr)
|
rs746435405
|
0.00001
|
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln)
|
rs145924695
|
0.00001
|
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu)
|
rs760297274
|
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.3032A>G (p.Asn1011Ser)
|
rs780425276
|
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.3041C>T (p.Pro1014Leu)
|
rs1404012576
|
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.3088C>G (p.Leu1030Val)
|
rs1040729718
|
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.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.3188T>C (p.Met1063Thr)
|
rs1260702127
|
0.00001
|
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu)
|
rs559317040
|
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.322A>G (p.Ile108Val)
|
rs1338490449
|
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.3292G>A (p.Val1098Ile)
|
rs748726158
|
0.00001
|
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala)
|
rs1291842090
|
0.00001
|
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp)
|
rs1426410745
|
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.3327C>T (p.Gly1109=)
|
rs779950790
|
0.00001
|
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu)
|
rs1838665681
|
0.00001
|
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys)
|
rs758520331
|
0.00001
|
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu)
|
rs863224653
|
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.3388G>A (p.Ala1130Thr)
|
rs766037357
|
0.00001
|
NM_000264.5(PTCH1):c.342G>A (p.Val114=)
|
rs766365142
|
0.00001
|
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val)
|
rs369265532
|
0.00001
|
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr)
|
rs1838650766
|
0.00001
|
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys)
|
rs1838317135
|
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.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.3565G>A (p.Gly1189Ser)
|
rs767535853
|
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.3592C>T (p.Pro1198Ser)
|
rs1280830531
|
0.00001
|
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)
|
rs374097441
|
0.00001
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
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.3664G>A (p.Asp1222Asn)
|
rs747181820
|
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.3706G>A (p.Glu1236Lys)
|
rs779844193
|
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.3743G>A (p.Gly1248Glu)
|
rs375857496
|
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.3787G>A (p.Val1263Ile)
|
rs752831580
|
0.00001
|
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)
|
rs951501624
|
0.00001
|
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg)
|
rs1445693994
|
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.3841A>G (p.Asn1281Asp)
|
rs1838051752
|
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.3886G>A (p.Gly1296Arg)
|
rs372828014
|
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.3920C>G (p.Pro1307Arg)
|
rs181585555
|
0.00001
|
NM_000264.5(PTCH1):c.3924A>G (p.Arg1308=)
|
rs762725821
|
0.00001
|
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)
|
rs1057524645
|
0.00001
|
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser)
|
rs574856671
|
0.00001
|
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)
|
rs1400282737
|
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.3984A>C (p.Glu1328Asp)
|
rs1394160194
|
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.4046C>T (p.Pro1349Leu)
|
rs773298544
|
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.4055C>G (p.Pro1352Arg)
|
rs1022984391
|
0.00001
|
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)
|
rs777096311
|
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.4114A>G (p.Thr1372Ala)
|
rs1837997051
|
0.00001
|
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met)
|
rs765348942
|
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.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.4160C>T (p.Pro1387Leu)
|
rs552921967
|
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.4180C>T (p.Arg1394Ter)
|
rs1297685477
|
0.00001
|
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)
|
rs375626922
|
0.00001
|
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu)
|
rs747923595
|
0.00001
|
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser)
|
rs1275384199
|
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.4289T>C (p.Ile1430Thr)
|
rs556722778
|
0.00001
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
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.4320G>T (p.Arg1440Ser)
|
rs1837952286
|
0.00001
|
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn)
|
rs770268061
|
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.463C>T (p.Pro155Ser)
|
rs369105527
|
0.00001
|
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)
|
rs770046324
|
0.00001
|
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)
|
rs587780707
|
0.00001
|
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala)
|
rs1244945859
|
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.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.594A>G (p.Lys198=)
|
rs1341335793
|
0.00001
|
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala)
|
rs1588614533
|
0.00001
|
NM_000264.5(PTCH1):c.646A>G (p.Met216Val)
|
rs587780709
|
0.00001
|
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn)
|
rs780378700
|
0.00001
|
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val)
|
rs1841580631
|
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.728C>T (p.Ser243Phe)
|
rs141265422
|
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.778G>A (p.Asp260Asn)
|
rs765174527
|
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.847A>T (p.Asn283Tyr)
|
rs1588610162
|
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.907G>C (p.Asp303His)
|
rs1172719429
|
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.949C>G (p.Leu317Val)
|
rs1380199153
|
0.00001
|
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr)
|
rs867609005
|
0.00001
|
NM_000264.5(PTCH1):c.969G>A (p.Leu323=)
|
rs771618979
|
0.00001
|
NC_000009.12:g.95482199_95482204del
|
|
|
NM_000264.3(PTCH1):c.3450delG
|
rs1131691001
|
|
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs)
|
rs1554699612
|
|
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
|
|
|
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1008C>T (p.His336=)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000264.5(PTCH1):c.1017G>A (p.Glu339=)
|
|
|
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)
|
rs1131690970
|
|
NM_000264.5(PTCH1):c.1034G>A (p.Gly345Asp)
|
|
|
NM_000264.5(PTCH1):c.1041C>G (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1044G>T (p.Lys348Asn)
|
|
|
NM_000264.5(PTCH1):c.1045A>G (p.Asn349Asp)
|
rs1588608348
|
|
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
|
|
|
NM_000264.5(PTCH1):c.1054G>A (p.Gly352Arg)
|
|
|
NM_000264.5(PTCH1):c.1060C>A (p.Leu354Ile)
|
rs1588608286
|
|
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=)
|
rs1554699558
|
|
NM_000264.5(PTCH1):c.1063G>C (p.Val355Leu)
|
|
|
NM_000264.5(PTCH1):c.1065C>G (p.Val355=)
|
rs2118387266
|
|
NM_000264.5(PTCH1):c.1067+5G>T
|
rs372657547
|
|
NM_000264.5(PTCH1):c.1068-1G>T
|
rs1085307752
|
|
NM_000264.5(PTCH1):c.1071C>G (p.Ala357=)
|
rs1588606079
|
|
NM_000264.5(PTCH1):c.1072C>T (p.His358Tyr)
|
|
|
NM_000264.5(PTCH1):c.1073A>G (p.His358Arg)
|
|
|
NM_000264.5(PTCH1):c.1077C>G (p.Ala359=)
|
|
|
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val)
|
rs1342698215
|
|
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
|
|
|
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile)
|
rs1841330687
|
|
NM_000264.5(PTCH1):c.1107C>T (p.Pro369=)
|
|
|
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer)
|
rs1131691002
|
|
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
|
|
|
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu)
|
rs1588605721
|
|
NM_000264.5(PTCH1):c.1131G>T (p.Lys377Asn)
|
|
|
NM_000264.5(PTCH1):c.1132G>A (p.Gly378Arg)
|
|
|
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu)
|
rs1463870316
|
|
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His)
|
rs1554699212
|
|
NM_000264.5(PTCH1):c.1143T>C (p.Tyr381=)
|
|
|
NM_000264.5(PTCH1):c.1146C>G (p.Val382=)
|
|
|
NM_000264.5(PTCH1):c.1152C>A (p.His384Gln)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1152C>T (p.His384=)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser)
|
rs1564053157
|
|
NM_000264.5(PTCH1):c.1162A>C (p.Asn388His)
|
|
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1168G>T (p.Asp390Tyr)
|
rs1588605451
|
|
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val)
|
rs2118364801
|
|
NM_000264.5(PTCH1):c.1185C>T (p.Ile395=)
|
|
|
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)
|
rs371424684
|
|
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys)
|
rs1588605278
|
|
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
|
|
|
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)
|
rs1432645175
|
|
NM_000264.5(PTCH1):c.1211T>C (p.Val404Ala)
|
|
|
NM_000264.5(PTCH1):c.1215+4A>T
|
|
|
NM_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
|
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1229G>A (p.Ser410Asn)
|
|
|
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.1244C>G (p.Ser415Cys)
|
rs1588602943
|
|
NM_000264.5(PTCH1):c.1245C>T (p.Ser415=)
|
|
|
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile)
|
rs201174718
|
|
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg)
|
rs1060502270
|
|
NM_000264.5(PTCH1):c.1250A>T (p.Gln417Leu)
|
|
|
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=)
|
rs2118337388
|
|
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
|
|
|
NM_000264.5(PTCH1):c.1256T>G (p.Val419Gly)
|
|
|
NM_000264.5(PTCH1):c.1257G>A (p.Val419=)
|
rs1060504535
|
|
NM_000264.5(PTCH1):c.1260T>G (p.Leu420=)
|
|
|
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe)
|
rs1285775586
|
|
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
|
|
|
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=)
|
rs998906518
|
|
NM_000264.5(PTCH1):c.1270A>G (p.Thr424Ala)
|
|
|
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
|
|
|
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=)
|
rs150837425
|
|
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
|
|
|
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
|
|
|
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1284C>A (p.Asp428Glu)
|
|
|
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1288A>G (p.Ile430Val)
|
|
|
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
|
|
|
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
|
|
|
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
|
|
|
NM_000264.5(PTCH1):c.1301_1303del (p.Phe434del)
|
|
|
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
|
|
|
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.1309G>A (p.Val437Ile)
|
rs1293146883
|
|
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly)
|
rs2118331535
|
|
NM_000264.5(PTCH1):c.1313G>A (p.Ser438Asn)
|
|
|
NM_000264.5(PTCH1):c.1314T>C (p.Ser438=)
|
|
|
NM_000264.5(PTCH1):c.1315G>A (p.Val439Ile)
|
|
|
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
|
|
|
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.1333G>A (p.Gly445Ser)
|
rs2118329828
|
|
NM_000264.5(PTCH1):c.1334del (p.Gly445fs)
|
rs1131690978
|
|
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs)
|
rs1588602354
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1344C>T (p.Leu448=)
|
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1348-1G>T
|
|
|
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=)
|
rs369109033
|
|
NM_000264.5(PTCH1):c.1350del (p.Ala451fs)
|
rs1588601051
|
|
NM_000264.5(PTCH1):c.1354T>A (p.Tyr452Asn)
|
|
|
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys)
|
rs1255345516
|
|
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs)
|
|
|
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)
|
rs2118311917
|
|
NM_000264.5(PTCH1):c.1361G>A (p.Cys454Tyr)
|
|
|
NM_000264.5(PTCH1):c.1363C>T (p.Leu455=)
|
|
|
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1367C>G (p.Thr456Ser)
|
|
|
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
|
|
|
NM_000264.5(PTCH1):c.1374G>A (p.Leu458=)
|
|
|
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)
|
rs1131690974
|
|
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser)
|
rs1588600865
|
|
NM_000264.5(PTCH1):c.1388C>T (p.Ser463Phe)
|
|
|
NM_000264.5(PTCH1):c.1393T>C (p.Ser465Pro)
|
|
|
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1395C>T (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1397A>G (p.Gln466Arg)
|
|
|
NM_000264.5(PTCH1):c.1399G>A (p.Gly467Ser)
|
|
|
NM_000264.5(PTCH1):c.1402G>A (p.Ala468Thr)
|
|
|
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met)
|
rs1438523462
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1413G>T (p.Leu471=)
|
|
|
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser)
|
rs899465701
|
|
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.1451G>C (p.Gly484Ala)
|
|
|
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.1462T>C (p.Cys488Arg)
|
rs1131690999
|
|
NM_000264.5(PTCH1):c.1468T>C (p.Leu490=)
|
|
|
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met)
|
rs768183391
|
|
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala)
|
rs1057515719
|
|
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
|
|
|
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)
|
rs1060504538
|
|
NM_000264.5(PTCH1):c.1493C>T (p.Ala498Val)
|
|
|
NM_000264.5(PTCH1):c.1503+2T>A
|
|
|
NM_000264.5(PTCH1):c.1504-2A>C
|
rs1131690984
|
|
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
|
|
|
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.1526G>A (p.Gly509Asp)
|
rs1060502268
|
|
NM_000264.5(PTCH1):c.1534G>A (p.Val512Met)
|
|
|
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile)
|
rs2118283531
|
|
NM_000264.5(PTCH1):c.1544T>C (p.Val515Ala)
|
|
|
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)
|
rs1554698288
|
|
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe)
|
rs2118283054
|
|
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)
|
rs1841075494
|
|
NM_000264.5(PTCH1):c.1555G>T (p.Ala519Ser)
|
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val)
|
rs755139183
|
|
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly)
|
rs2118281828
|
|
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)
|
rs751778283
|
|
NM_000264.5(PTCH1):c.1575A>G (p.Thr525=)
|
|
|
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)
|
rs1554698260
|
|
NM_000264.5(PTCH1):c.1582A>C (p.Asn528His)
|
|
|
NM_000264.5(PTCH1):c.1584T>A (p.Asn528Lys)
|
|
|
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=)
|
rs2118280594
|
|
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu)
|
rs780434261
|
|
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr)
|
rs1227526379
|
|
NM_000264.5(PTCH1):c.1594C>T (p.Pro532Ser)
|
|
|
NM_000264.5(PTCH1):c.1597T>G (p.Phe533Val)
|
|
|
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1598T>G (p.Phe533Cys)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1602+5T>C
|
|
|
NM_000264.5(PTCH1):c.1603-2A>C
|
rs1064793921
|
|
NM_000264.5(PTCH1):c.1603-3C>A
|
|
|
NM_000264.5(PTCH1):c.1603-5C>T
|
rs1588596863
|
|
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=)
|
rs780344685
|
|
NM_000264.5(PTCH1):c.1617G>C (p.Glu539Asp)
|
|
|
NM_000264.5(PTCH1):c.161G>C (p.Ser54Thr)
|
|
|
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=)
|
rs1841017295
|
|
NM_000264.5(PTCH1):c.1627C>G (p.Arg543Gly)
|
|
|
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)
|
rs137903539
|
|
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
|
|
|
NM_000264.5(PTCH1):c.164A>C (p.Tyr55Ser)
|
|
|
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1653G>T (p.Thr551=)
|
|
|
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
|
|
|
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
|
|
|
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1662C>T (p.Ser554=)
|
|
|
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)
|
rs1318405179
|
|
NM_000264.5(PTCH1):c.166T>A (p.Cys56Ser)
|
|
|
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr)
|
rs2118253278
|
|
NM_000264.5(PTCH1):c.1678T>A (p.Phe560Ile)
|
|
|
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
|
|
|
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
|
|
|
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val)
|
rs1332335605
|
|
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
|
|
|
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=)
|
rs2066836
|
|
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr)
|
rs146616780
|
|
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.1693A>G (p.Ile565Val)
|
rs778170244
|
|
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs)
|
|
|
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=)
|
rs2118250352
|
|
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val)
|
rs200504753
|
|
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr)
|
rs753240797
|
|
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.1715C>T (p.Ala572Val)
|
rs1485556285
|
|
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.1721C>T (p.Ser574Phe)
|
rs1841002219
|
|
NM_000264.5(PTCH1):c.1722C>T (p.Ser574=)
|
|
|
NM_000264.5(PTCH1):c.1728+3G>C
|
rs1588596061
|
|
NM_000264.5(PTCH1):c.1728+5G>A
|
|
|
NM_000264.5(PTCH1):c.175G>A (p.Ala59Thr)
|
rs147738224
|
|
NM_000264.5(PTCH1):c.175G>T (p.Ala59Ser)
|
|
|
NM_000264.5(PTCH1):c.176C>T (p.Ala59Val)
|
|
|
NM_000264.5(PTCH1):c.180C>T (p.Phe60=)
|
|
|
NM_000264.5(PTCH1):c.181G>T (p.Ala61Ser)
|
|
|
NM_000264.5(PTCH1):c.184C>T (p.Leu62=)
|
|
|
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.189G>A (p.Glu63=)
|
|
|
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
|
|
|
NM_000264.5(PTCH1):c.190_192del (p.Gln64del)
|
|
|
NM_000264.5(PTCH1):c.192G>C (p.Gln64His)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
|
|
|
NM_000264.5(PTCH1):c.193A>G (p.Ile65Val)
|
|
|
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
|
|
|
NM_000264.5(PTCH1):c.198C>A (p.Ser66=)
|
|
|
NM_000264.5(PTCH1):c.198C>T (p.Ser66=)
|
rs1355794957
|
|
NM_000264.5(PTCH1):c.199A>G (p.Lys67Glu)
|
|
|
NM_000264.5(PTCH1):c.201+1G>A
|
rs1131690967
|
|
NM_000264.5(PTCH1):c.201+5A>G
|
rs1843883183
|
|
NM_000264.5(PTCH1):c.202-2A>C
|
rs878853849
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
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.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000264.5(PTCH1):c.210T>C (p.Ala70=)
|
|
|
NM_000264.5(PTCH1):c.211A>G (p.Thr71Ala)
|
|
|
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
|
|
|
NM_000264.5(PTCH1):c.215G>T (p.Gly72Val)
|
|
|
NM_000264.5(PTCH1):c.216C>G (p.Gly72=)
|
rs1383963652
|
|
NM_000264.5(PTCH1):c.218G>C (p.Arg73Pro)
|
|
|
NM_000264.5(PTCH1):c.219G>T (p.Arg73=)
|
|
|
NM_000264.5(PTCH1):c.222A>C (p.Lys74Asn)
|
|
|
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr)
|
rs997156828
|
|
NM_000264.5(PTCH1):c.228G>T (p.Pro76=)
|
|
|
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
|
|
|
NM_000264.5(PTCH1):c.238A>C (p.Arg80=)
|
|
|
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
|
|
|
NM_000264.5(PTCH1):c.240A>C (p.Arg80Ser)
|
|
|
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr)
|
rs2118880380
|
|
NM_000264.5(PTCH1):c.241G>C (p.Ala81Pro)
|
|
|
NM_000264.5(PTCH1):c.244A>G (p.Lys82Glu)
|
|
|
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>G (p.Arg85Gly)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.2561-5T>C
|
|
|
NM_000264.5(PTCH1):c.2561G>A (p.Gly854Glu)
|
|
|
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)
|
rs751613059
|
|
NM_000264.5(PTCH1):c.256C>T (p.Leu86Phe)
|
|
|
NM_000264.5(PTCH1):c.2570A>C (p.Asp857Ala)
|
|
|
NM_000264.5(PTCH1):c.2570A>T (p.Asp857Val)
|
|
|
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2574A>C (p.Ala858=)
|
|
|
NM_000264.5(PTCH1):c.2574A>G (p.Ala858=)
|
|
|
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
|
|
|
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn)
|
rs2136689511
|
|
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs)
|
|
|
NM_000264.5(PTCH1):c.2589G>C (p.Trp863Cys)
|
|
|
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys)
|
rs1277861627
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=)
|
rs1839515955
|
|
NM_000264.5(PTCH1):c.2595C>A (p.Thr865=)
|
|
|
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu)
|
rs863224651
|
|
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=)
|
rs2136689118
|
|
NM_000264.5(PTCH1):c.2598del (p.Ile868fs)
|
rs1131690975
|
|
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
|
|
|
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=)
|
rs568888639
|
|
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys)
|
rs1345518847
|
|
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile)
|
rs2136688957
|
|
NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
|
|
|
NM_000264.5(PTCH1):c.2613C>T (p.Asn871=)
|
|
|
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His)
|
rs2136688723
|
|
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=)
|
rs1389183150
|
|
NM_000264.5(PTCH1):c.262T>C (p.Phe88Leu)
|
|
|
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs)
|
rs2118879343
|
|
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.263T>A (p.Phe88Tyr)
|
|
|
NM_000264.5(PTCH1):c.2643C>G (p.Val881=)
|
rs1588551617
|
|
NM_000264.5(PTCH1):c.2654A>G (p.Lys885Arg)
|
|
|
NM_000264.5(PTCH1):c.2654A>T (p.Lys885Ile)
|
rs1272128871
|
|
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
|
|
|
NM_000264.5(PTCH1):c.2662G>A (p.Val888Met)
|
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg)
|
rs1843661629
|
|
NM_000264.5(PTCH1):c.2673C>T (p.Gly891=)
|
|
|
NM_000264.5(PTCH1):c.2679C>A (p.Arg893=)
|
|
|
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
|
|
|
NM_000264.5(PTCH1):c.2691C>G (p.Ile897Met)
|
rs1055193050
|
|
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=)
|
rs1055193050
|
|
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met)
|
rs1588551373
|
|
NM_000264.5(PTCH1):c.2704-2A>G
|
|
|
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.2707A>G (p.Thr903Ala)
|
|
|
NM_000264.5(PTCH1):c.2707A>T (p.Thr903Ser)
|
|
|
NM_000264.5(PTCH1):c.270G>A (p.Leu90=)
|
|
|
NM_000264.5(PTCH1):c.270_271delinsAA (p.Gly91Ser)
|
|
|
NM_000264.5(PTCH1):c.2716C>G (p.Arg906Gly)
|
rs1588545099
|
|
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys)
|
rs1588545099
|
|
NM_000264.5(PTCH1):c.271G>A (p.Gly91Ser)
|
|
|
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
|
|
|
NM_000264.5(PTCH1):c.2724G>T (p.Val908=)
|
rs1564021832
|
|
NM_000264.5(PTCH1):c.2731G>T (p.Asp911Tyr)
|
|
|
NM_000264.5(PTCH1):c.2732A>G (p.Asp911Gly)
|
|
|
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu)
|
rs1839296987
|
|
NM_000264.5(PTCH1):c.2736C>A (p.Gly912=)
|
|
|
NM_000264.5(PTCH1):c.2738T>C (p.Ile913Thr)
|
|
|
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.2746C>T (p.Pro916Ser)
|
|
|
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile)
|
rs1588544954
|
|
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr)
|
rs2136672620
|
|
NM_000264.5(PTCH1):c.2754T>C (p.Ala918=)
|
rs1588544935
|
|
NM_000264.5(PTCH1):c.2757C>A (p.Phe919Leu)
|
|
|
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
|
|
|
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
|
|
|
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs)
|
rs1131690972
|
|
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
|
|
|
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met)
|
rs1564021738
|
|
NM_000264.5(PTCH1):c.2767C>G (p.Leu923Val)
|
|
|
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.2774C>T (p.Ala925Val)
|
|
|
NM_000264.5(PTCH1):c.2779G>A (p.Val927Ile)
|
rs1554691693
|
|
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
|
|
|
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr)
|
rs1554691690
|
|
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
|
|
|
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
|
|
|
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
|
rs1839290937
|
|
NM_000264.5(PTCH1):c.2794del (p.Val932fs)
|
rs1131690997
|
|
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
|
|
|
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val)
|
rs768558478
|
|
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)
|
rs1554708753
|
|
NM_000264.5(PTCH1):c.2801A>G (p.Tyr934Cys)
|
|
|
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe)
|
rs1209943415
|
|
NM_000264.5(PTCH1):c.2802T>C (p.Tyr934=)
|
|
|
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro)
|
rs1554691676
|
|
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser)
|
rs1588544538
|
|
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=)
|
rs1393599414
|
|
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
|
rs1843660253
|
|
NM_000264.5(PTCH1):c.281T>G (p.Ile94Ser)
|
rs1587693521
|
|
NM_000264.5(PTCH1):c.2822T>A (p.Ile941Asn)
|
|
|
NM_000264.5(PTCH1):c.2822del (p.Ile941fs)
|
|
|
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met)
|
rs1839283096
|
|
NM_000264.5(PTCH1):c.2824C>A (p.Arg942=)
|
|
|
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=)
|
rs934070764
|
|
NM_000264.5(PTCH1):c.2827C>A (p.Pro943Thr)
|
|
|
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=)
|
rs150739122
|
|
NM_000264.5(PTCH1):c.2830C>G (p.His944Asp)
|
|
|
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr)
|
rs1588544426
|
|
NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.2834G>C (p.Arg945Pro)
|
|
|
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)
|
rs1587693508
|
|
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr)
|
rs1588544328
|
|
NM_000264.5(PTCH1):c.2853C>T (p.Asp951=)
|
|
|
NM_000264.5(PTCH1):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.2867T>C (p.Met956Thr)
|
|
|
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile)
|
rs761501958
|
|
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg)
|
rs1376533047
|
|
NM_000264.5(PTCH1):c.2872del (p.Glu958fs)
|
|
|
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
|
|
|
NM_000264.5(PTCH1):c.2882T>C (p.Leu961Pro)
|
rs1588544210
|
|
NM_000264.5(PTCH1):c.2887+2T>C
|
rs1839273008
|
|
NM_000264.5(PTCH1):c.2887+4A>C
|
rs1588544193
|
|
NM_000264.5(PTCH1):c.2887+4A>G
|
rs1588544193
|
|
NM_000264.5(PTCH1):c.2887+5G>A
|
|
|
NM_000264.5(PTCH1):c.2888-3C>G
|
|
|
NM_000264.5(PTCH1):c.2888-5T>A
|
|
|
NM_000264.5(PTCH1):c.2903C>T (p.Pro968Leu)
|
|
|
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=)
|
rs1554691433
|
|
NM_000264.5(PTCH1):c.2905A>G (p.Ile969Val)
|
|
|
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.291C>A (p.Asn97Lys)
|
|
|
NM_000264.5(PTCH1):c.291C>T (p.Asn97=)
|
|
|
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
|
|
|
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=)
|
rs2136662510
|
|
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu)
|
rs1588540820
|
|
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs)
|
|
|
NM_000264.5(PTCH1):c.2931C>T (p.Tyr977=)
|
rs1588540806
|
|
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro)
|
rs863224652
|
|
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=)
|
rs1588540781
|
|
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His)
|
rs1588540767
|
|
NM_000264.5(PTCH1):c.2942T>C (p.Leu981Ser)
|
|
|
NM_000264.5(PTCH1):c.2943G>A (p.Leu981=)
|
|
|
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
|
|
|
NM_000264.5(PTCH1):c.2948A>T (p.Asp983Val)
|
|
|
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=)
|
rs1204950098
|
|
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter)
|
rs1131690968
|
|
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=)
|
rs2136662098
|
|
NM_000264.5(PTCH1):c.2968G>A (p.Ala990Thr)
|
|
|
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val)
|
rs1189382722
|
|
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)
|
rs772407797
|
|
NM_000264.5(PTCH1):c.2982A>T (p.Val994=)
|
rs1588540533
|
|
NM_000264.5(PTCH1):c.2987C>T (p.Thr996Ile)
|
|
|
NM_000264.5(PTCH1):c.2990T>C (p.Ile997Thr)
|
|
|
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.3013G>A (p.Gly1005Arg)
|
|
|
NM_000264.5(PTCH1):c.3015G>A (p.Gly1005=)
|
|
|
NM_000264.5(PTCH1):c.3016C>A (p.Leu1006Met)
|
|
|
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=)
|
rs863224350
|
|
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)
|
rs747234651
|
|
NM_000264.5(PTCH1):c.3033C>A (p.Asn1011Lys)
|
|
|
NM_000264.5(PTCH1):c.3033C>G (p.Asn1011Lys)
|
|
|
NM_000264.5(PTCH1):c.3036C>T (p.Gly1012=)
|
|
|
NM_000264.5(PTCH1):c.303C>T (p.Phe101=)
|
rs1425771551
|
|
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser)
|
rs1588540255
|
|
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=)
|
rs757821035
|
|
NM_000264.5(PTCH1):c.3043T>A (p.Phe1015Ile)
|
|
|
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=)
|
rs1404182043
|
|
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe)
|
rs374575067
|
|
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=)
|
rs1165046037
|
|
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala)
|
rs1588540060
|
|
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=)
|
rs767289081
|
|
NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe)
|
rs199522392
|
|
NM_000264.5(PTCH1):c.3070C>T (p.Leu1024Phe)
|
|
|
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.3083T>A (p.Leu1028Gln)
|
|
|
NM_000264.5(PTCH1):c.3091T>G (p.Phe1031Val)
|
|
|
NM_000264.5(PTCH1):c.3098G>C (p.Ser1033Thr)
|
rs1588539911
|
|
NM_000264.5(PTCH1):c.3099C>G (p.Ser1033Arg)
|
|
|
NM_000264.5(PTCH1):c.3100G>T (p.Val1034Leu)
|
|
|
NM_000264.5(PTCH1):c.3102G>C (p.Val1034=)
|
|
|
NM_000264.5(PTCH1):c.3103G>C (p.Val1035Leu)
|
|
|
NM_000264.5(PTCH1):c.3104T>G (p.Val1035Gly)
|
|
|
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=)
|
rs2136660293
|
|
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
|
|
|
NM_000264.5(PTCH1):c.3106T>G (p.Leu1036Val)
|
|
|
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)
|
rs1554691359
|
|
NM_000264.5(PTCH1):c.3108G>A (p.Leu1036=)
|
|
|
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=)
|
rs1009386754
|
|
NM_000264.5(PTCH1):c.3112T>G (p.Cys1038Gly)
|
|
|
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.3125T>G (p.Val1042Gly)
|
|
|
NM_000264.5(PTCH1):c.3129C>G (p.Cys1043Trp)
|
|
|
NM_000264.5(PTCH1):c.312G>T (p.Val104=)
|
|
|
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)
|
rs138458710
|
|
NM_000264.5(PTCH1):c.3130G>T (p.Ala1044Ser)
|
|
|
NM_000264.5(PTCH1):c.3132T>G (p.Ala1044=)
|
|
|
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
|
|
|
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys)
|
rs1839099591
|
|
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile)
|
rs1053698119
|
|
NM_000264.5(PTCH1):c.3139C>G (p.Leu1047Val)
|
|
|
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer)
|
rs1131690980
|
|
NM_000264.5(PTCH1):c.3141T>A (p.Leu1047=)
|
|
|
NM_000264.5(PTCH1):c.3149C>G (p.Pro1050Arg)
|
|
|
NM_000264.5(PTCH1):c.3150C>G (p.Pro1050=)
|
|
|
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs)
|
rs1588539623
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
NM_000264.5(PTCH1):c.3155C>A (p.Thr1052Lys)
|
|
|
NM_000264.5(PTCH1):c.3156G>T (p.Thr1052=)
|
|
|
NM_000264.5(PTCH1):c.315C>T (p.Gly105=)
|
|
|
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
|
|
|
NM_000264.5(PTCH1):c.3166A>G (p.Ile1056Val)
|
|
|
NM_000264.5(PTCH1):c.3168+3G>C
|
|
|
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=)
|
rs2136650471
|
|
NM_000264.5(PTCH1):c.3177C>G (p.Val1059=)
|
|
|
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg)
|
rs1131690998
|
|
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.3185T>C (p.Leu1062Pro)
|
|
|
NM_000264.5(PTCH1):c.3187A>T (p.Met1063Leu)
|
|
|
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.319C>T (p.Leu107Phe)
|
rs2118876683
|
|
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg)
|
rs2136649542
|
|
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=)
|
rs2136649380
|
|
NM_000264.5(PTCH1):c.3217C>A (p.Leu1073Ile)
|
|
|
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
|
|
|
NM_000264.5(PTCH1):c.321_323del (p.Ile108del)
|
|
|
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=)
|
rs757101018
|
|
NM_000264.5(PTCH1):c.3226A>C (p.Ile1076Leu)
|
|
|
NM_000264.5(PTCH1):c.3226A>G (p.Ile1076Val)
|
|
|
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
|
|
|
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
|
|
|
NM_000264.5(PTCH1):c.3244C>T (p.Pro1082Ser)
|
|
|
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His)
|
rs2136648648
|
|
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe)
|
rs1838922991
|
|
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs)
|
rs1588535611
|
|
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
|
|
|
NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro)
|
rs1588535542
|
|
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val)
|
rs2136648402
|
|
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu)
|
rs1843655328
|
|
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=)
|
rs768215021
|
|
NM_000264.5(PTCH1):c.3263C>A (p.Ala1088Asp)
|
|
|
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val)
|
rs1838920838
|
|
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.3272G>C (p.Gly1091Ala)
|
|
|
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
|
|
|
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.3280G>A (p.Val1094Met)
|
rs1588535447
|
|
NM_000264.5(PTCH1):c.3288C>T (p.Phe1096=)
|
|
|
NM_000264.5(PTCH1):c.3298G>T (p.Val1100Phe)
|
|
|
NM_000264.5(PTCH1):c.3298_3306+3del
|
|
|
NM_000264.5(PTCH1):c.3303T>C (p.Ala1101=)
|
|
|
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val)
|
rs1554690984
|
|
NM_000264.5(PTCH1):c.3306+4T>C
|
|
|
NM_000264.5(PTCH1):c.3307-3C>T
|
|
|
NM_000264.5(PTCH1):c.3307-4A>C
|
rs1554690494
|
|
NM_000264.5(PTCH1):c.3307-4A>G
|
|
|
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser)
|
rs1838668785
|
|
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>A (p.Ile1108=)
|
|
|
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=)
|
rs748117539
|
|
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.332C>T (p.Ala111Val)
|
|
|
NM_000264.5(PTCH1):c.3330C>A (p.Asp1110Glu)
|
|
|
NM_000264.5(PTCH1):c.3335A>G (p.Asn1112Ser)
|
|
|
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.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3351T>C (p.Leu1117=)
|
|
|
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
|
|
|
NM_000264.5(PTCH1):c.3355C>T (p.Leu1119=)
|
|
|
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=)
|
rs1838662525
|
|
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)
|
rs1838662287
|
|
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=)
|
rs1554690458
|
|
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
|
|
|
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val)
|
rs1838661361
|
|
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)
|
rs1060502273
|
|
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys)
|
rs929802114
|
|
NM_000264.5(PTCH1):c.3373C>G (p.Pro1125Ala)
|
|
|
NM_000264.5(PTCH1):c.3378C>G (p.Val1126=)
|
|
|
NM_000264.5(PTCH1):c.3379C>G (p.Leu1127Val)
|
|
|
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=)
|
rs1032072492
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3389C>T (p.Ala1130Val)
|
rs1588528579
|
|
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
|
|
|
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=)
|
rs1267662604
|
|
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)
|
rs1131690996
|
|
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
|
|
|
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.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3402G>A (p.Leu1134=)
|
|
|
NM_000264.5(PTCH1):c.3402G>T (p.Leu1134=)
|
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
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.340G>T (p.Val114Leu)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.3410_3424del (p.Val1137_Ala1141del)
|
rs1554690414
|
|
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3418C>G (p.Leu1140Val)
|
|
|
NM_000264.5(PTCH1):c.341T>G (p.Val114Gly)
|
|
|
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)
|
rs745948150
|
|
NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)
|
|
|
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=)
|
rs778900289
|
|
NM_000264.5(PTCH1):c.3432G>T (p.Glu1144Asp)
|
|
|
NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=)
|
rs1554690401
|
|
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser)
|
rs1131690990
|
|
NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)
|
|
|
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3449+3A>G
|
rs201942643
|
|
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.3450-11T>A
|
|
|
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs)
|
rs1131690976
|
|
NM_000264.5(PTCH1):c.3470C>T (p.Ala1157Val)
|
|
|
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=)
|
rs950019214
|
|
NM_000264.5(PTCH1):c.3471G>T (p.Ala1157=)
|
|
|
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe)
|
rs368636457
|
|
NM_000264.5(PTCH1):c.3474C>G (p.Ile1158Met)
|
|
|
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro)
|
rs1588519508
|
|
NM_000264.5(PTCH1):c.3478A>G (p.Thr1160Ala)
|
|
|
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val)
|
rs202102540
|
|
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.3493C>G (p.Leu1165Val)
|
|
|
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser)
|
rs1271099813
|
|
NM_000264.5(PTCH1):c.3498T>C (p.Asn1166=)
|
|
|
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)
|
rs1131690985
|
|
NM_000264.5(PTCH1):c.3501G>C (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.3503T>A (p.Leu1168Gln)
|
|
|
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg)
|
rs1234085004
|
|
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
|
|
|
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met)
|
rs1588519372
|
|
NM_000264.5(PTCH1):c.3519G>C (p.Val1173=)
|
rs1588519366
|
|
NM_000264.5(PTCH1):c.351A>G (p.Lys117=)
|
|
|
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys)
|
rs864622160
|
|
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=)
|
rs930364103
|
|
NM_000264.5(PTCH1):c.3543T>C (p.Tyr1181=)
|
|
|
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3549+1G>A
|
rs1838303542
|
|
NM_000264.5(PTCH1):c.3549G>A (p.Glu1183=)
|
|
|
NM_000264.5(PTCH1):c.3551T>C (p.Val1184Ala)
|
|
|
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.3557C>T (p.Pro1186Leu)
|
rs1838242467
|
|
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp)
|
rs1319757275
|
|
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys)
|
rs864622621
|
|
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3568T>C (p.Leu1190=)
|
|
|
NM_000264.5(PTCH1):c.3569T>C (p.Leu1190Ser)
|
|
|
NM_000264.5(PTCH1):c.3574C>A (p.Arg1192Ser)
|
|
|
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu)
|
rs762040036
|
|
NM_000264.5(PTCH1):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
|
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser)
|
rs1588517811
|
|
NM_000264.5(PTCH1):c.3587C>A (p.Pro1196His)
|
rs1217566464
|
|
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
|
|
|
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)
|
rs1588517764
|
|
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg)
|
rs1564008924
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
|
|
|
NM_000264.5(PTCH1):c.3604C>A (p.Pro1202Thr)
|
|
|
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
|
|
|
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>A (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
|
|
|
NM_000264.5(PTCH1):c.3612G>T (p.Val1204=)
|
|
|
NM_000264.5(PTCH1):c.3613G>A (p.Val1205Ile)
|
rs1588517620
|
|
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp)
|
rs775882469
|
|
NM_000264.5(PTCH1):c.3614T>C (p.Val1205Ala)
|
|
|
NM_000264.5(PTCH1):c.3615C>G (p.Val1205=)
|
|
|
NM_000264.5(PTCH1):c.3616C>G (p.Arg1206Gly)
|
|
|
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
|
|
|
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val)
|
rs776424978
|
|
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe)
|
rs776424978
|
|
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser)
|
rs945517672
|
|
NM_000264.5(PTCH1):c.3623C>A (p.Ala1208Asp)
|
rs914090288
|
|
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.3627G>A (p.Met1209Ile)
|
rs1838227370
|
|
NM_000264.5(PTCH1):c.362T>C (p.Leu121Pro)
|
|
|
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.3635G>A (p.Gly1212Asp)
|
|
|
NM_000264.5(PTCH1):c.3639C>G (p.His1213Gln)
|
|
|
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.3640A>T (p.Thr1214Ser)
|
|
|
NM_000264.5(PTCH1):c.3643C>T (p.His1215Tyr)
|
|
|
NM_000264.5(PTCH1):c.3644A>G (p.His1215Arg)
|
|
|
NM_000264.5(PTCH1):c.364_369dup (p.Thr123_Asn124insGluThr)
|
|
|
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
|
|
|
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.3654T>G (p.Ser1218=)
|
|
|
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val)
|
rs2136600284
|
|
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe)
|
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.3678T>C (p.Ser1226=)
|
rs1588517173
|
|
NM_000264.5(PTCH1):c.3681_3682del (p.Gln1228fs)
|
|
|
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.3709G>A (p.Glu1237Lys)
|
|
|
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.371_387del (p.Asn124fs)
|
rs1554708626
|
|
NM_000264.5(PTCH1):c.3722A>C (p.Tyr1241Ser)
|
|
|
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
|
|
|
NM_000264.5(PTCH1):c.3727G>A (p.Ala1243Thr)
|
|
|
NM_000264.5(PTCH1):c.3729C>G (p.Ala1243=)
|
|
|
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)
|
rs763779667
|
|
NM_000264.5(PTCH1):c.3735_3758del (p.Gly1246_Gln1253del)
|
|
|
NM_000264.5(PTCH1):c.3736G>A (p.Gly1246Ser)
|
|
|
NM_000264.5(PTCH1):c.3738C>G (p.Gly1246=)
|
|
|
NM_000264.5(PTCH1):c.373G>A (p.Val125Met)
|
rs760253622
|
|
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly)
|
rs1588516924
|
|
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val)
|
rs1588516924
|
|
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
|
|
|
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala)
|
rs375857496
|
|
NM_000264.5(PTCH1):c.3743G>T (p.Gly1248Val)
|
|
|
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)
|
rs769446796
|
|
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg)
|
rs1838211042
|
|
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp)
|
rs780990429
|
|
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
|
|
|
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro)
|
rs1838210172
|
|
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg)
|
rs1838210172
|
|
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
|
|
|
NM_000264.5(PTCH1):c.3761T>C (p.Val1254Ala)
|
|
|
NM_000264.5(PTCH1):c.3762G>A (p.Val1254=)
|
|
|
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)
|
rs150850039
|
|
NM_000264.5(PTCH1):c.3766G>T (p.Val1256Leu)
|
|
|
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys)
|
rs750397931
|
|
NM_000264.5(PTCH1):c.3775A>G (p.Thr1259Ala)
|
|
|
NM_000264.5(PTCH1):c.3778G>T (p.Glu1260Ter)
|
rs1131690988
|
|
NM_000264.5(PTCH1):c.3783C>G (p.Asn1261Lys)
|
|
|
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)
|
rs970679518
|
|
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala)
|
rs1588516673
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu)
|
rs144312968
|
|
NM_000264.5(PTCH1):c.3793G>T (p.Ala1265Ser)
|
rs759791227
|
|
NM_000264.5(PTCH1):c.3798C>T (p.His1266=)
|
|
|
NM_000264.5(PTCH1):c.3799T>G (p.Ser1267Ala)
|
rs1588516614
|
|
NM_000264.5(PTCH1):c.3803C>A (p.Thr1268Asn)
|
|
|
NM_000264.5(PTCH1):c.3804+2dup
|
rs1588516590
|
|
NM_000264.5(PTCH1):c.3804+3_3804+6del
|
|
|
NM_000264.5(PTCH1):c.3805-2A>G
|
|
|
NM_000264.5(PTCH1):c.3805-4G>A
|
rs1060504537
|
|
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
|
|
|
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)
|
rs1298467711
|
|
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu)
|
rs774167762
|
|
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.3824G>C (p.Arg1275Thr)
|
|
|
NM_000264.5(PTCH1):c.3828T>A (p.His1276Gln)
|
|
|
NM_000264.5(PTCH1):c.3831C>T (p.His1277=)
|
|
|
NM_000264.5(PTCH1):c.3835C>G (p.Pro1279Ala)
|
|
|
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
|
|
|
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=)
|
rs750770371
|
|
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
|
|
|
NM_000264.5(PTCH1):c.3846G>C (p.Pro1282=)
|
|
|
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter)
|
rs1838050037
|
|
NM_000264.5(PTCH1):c.3853C>T (p.Gln1285Ter)
|
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His)
|
rs1278213544
|
|
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=)
|
rs1222530728
|
|
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr)
|
rs1838047745
|
|
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg)
|
rs2118873547
|
|
NM_000264.5(PTCH1):c.3860A>C (p.His1287Pro)
|
|
|
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del)
|
rs1064792957
|
|
NM_000264.5(PTCH1):c.3861C>T (p.His1287=)
|
|
|
NM_000264.5(PTCH1):c.3863T>A (p.Leu1288Gln)
|
|
|
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=)
|
rs587780704
|
|
NM_000264.5(PTCH1):c.3870A>T (p.Ser1290=)
|
|
|
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg)
|
rs2136583470
|
|
NM_000264.5(PTCH1):c.3883C>G (p.Pro1295Ala)
|
|
|
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser)
|
rs1060502275
|
|
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg)
|
rs372828014
|
|
NM_000264.5(PTCH1):c.3888A>C (p.Gly1296=)
|
|
|
NM_000264.5(PTCH1):c.3891G>C (p.Arg1297=)
|
|
|
NM_000264.5(PTCH1):c.3896G>T (p.Gly1299Val)
|
|
|
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
|
|
|
NM_000264.5(PTCH1):c.389T>C (p.Val130Ala)
|
|
|
NM_000264.5(PTCH1):c.3900G>T (p.Gln1300His)
|
|
|
NM_000264.5(PTCH1):c.3901C>G (p.Gln1301Glu)
|
|
|
NM_000264.5(PTCH1):c.3902A>C (p.Gln1301Pro)
|
|
|
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)
|
rs780042369
|
|
NM_000264.5(PTCH1):c.3908G>C (p.Arg1303Pro)
|
|
|
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.3910A>G (p.Arg1304Gly)
|
|
|
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr)
|
rs1838039734
|
|
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>G (p.Asp1305Glu)
|
|
|
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His)
|
rs864622483
|
|
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
|
|
|
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala)
|
rs574880967
|
|
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His)
|
rs181585555
|
|
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.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)
|
rs762725821
|
|
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val)
|
rs773043616
|
|
NM_000264.5(PTCH1):c.3931T>G (p.Leu1311Val)
|
|
|
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
|
|
NM_000264.5(PTCH1):c.3940C>A (p.Pro1314Thr)
|
|
|
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
|
|
|
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=)
|
rs1406247800
|
|
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His)
|
rs357564
|
|
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg)
|
rs357564
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.3946T>G (p.Tyr1316Asp)
|
|
|
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)
|
rs1482005246
|
|
NM_000264.5(PTCH1):c.395-3C>T
|
|
|
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser)
|
rs1211632031
|
|
NM_000264.5(PTCH1):c.3953C>A (p.Pro1318Gln)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)
|
rs1554688549
|
|
NM_000264.5(PTCH1):c.3962A>C (p.Asp1321Ala)
|
|
|
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
|
|
|
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)
|
rs896779358
|
|
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val)
|
rs1054532927
|
|
NM_000264.5(PTCH1):c.3966T>G (p.Ala1322=)
|
|
|
NM_000264.5(PTCH1):c.3967T>G (p.Phe1323Val)
|
|
|
NM_000264.5(PTCH1):c.3968T>G (p.Phe1323Cys)
|
|
|
NM_000264.5(PTCH1):c.3971A>T (p.Glu1324Val)
|
|
|
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>G (p.Thr1327=)
|
rs1588511470
|
|
NM_000264.5(PTCH1):c.3983A>C (p.Glu1328Ala)
|
|
|
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg)
|
rs1564005652
|
|
NM_000264.5(PTCH1):c.3990T>G (p.His1330Gln)
|
|
|
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.3997C>T (p.Pro1333Ser)
|
|
|
NM_000264.5(PTCH1):c.3999T>G (p.Pro1333=)
|
|
|
NM_000264.5(PTCH1):c.399A>G (p.Gly133=)
|
rs2118551268
|
|
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr)
|
rs200620662
|
|
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
|
|
|
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=)
|
rs1588511343
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4011_4022del (p.Trp1339_Arg1342del)
|
|
|
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu)
|
rs771238114
|
|
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del)
|
rs774819810
|
|
NM_000264.5(PTCH1):c.4015T>C (p.Trp1339Arg)
|
|
|
NM_000264.5(PTCH1):c.4015T>G (p.Trp1339Gly)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu)
|
rs748609458
|
|
NM_000264.5(PTCH1):c.4023T>A (p.Pro1341=)
|
|
|
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=)
|
rs750057721
|
|
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly)
|
rs556901417
|
|
NM_000264.5(PTCH1):c.4035T>G (p.Arg1345=)
|
|
|
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
|
rs1131690986
|
|
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln)
|
rs774524114
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
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.4052A>G (p.Asn1351Ser)
|
rs1588510932
|
|
NM_000264.5(PTCH1):c.4053C>T (p.Asn1351=)
|
|
|
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
|
|
|
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile)
|
rs779482395
|
|
NM_000264.5(PTCH1):c.4065T>A (p.Thr1355=)
|
|
|
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val)
|
rs757909121
|
|
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)
|
rs757909121
|
|
NM_000264.5(PTCH1):c.4078T>G (p.Ser1360Ala)
|
|
|
NM_000264.5(PTCH1):c.4079C>A (p.Ser1360Tyr)
|
|
|
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.4081G>T (p.Val1361Leu)
|
rs753535745
|
|
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser)
|
rs1838001528
|
|
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.4096C>T (p.Gln1366Ter)
|
|
|
NM_000264.5(PTCH1):c.4098G>C (p.Gln1366His)
|
rs1588510720
|
|
NM_000264.5(PTCH1):c.4100C>G (p.Pro1367Arg)
|
|
|
NM_000264.5(PTCH1):c.4104C>T (p.Ile1368=)
|
|
|
NM_000264.5(PTCH1):c.4107C>T (p.Thr1369=)
|
|
|
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
|
|
|
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.4117G>A (p.Ala1373Thr)
|
rs1267726258
|
|
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.4129G>C (p.Val1377Leu)
|
rs745337014
|
|
NM_000264.5(PTCH1):c.4130T>C (p.Val1377Ala)
|
|
|
NM_000264.5(PTCH1):c.4134T>A (p.Thr1378=)
|
|
|
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
|
|
|
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu)
|
rs187104739
|
|
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
|
|
|
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro)
|
rs1837991686
|
|
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
|
|
|
NM_000264.5(PTCH1):c.4146C>A (p.His1382Gln)
|
|
|
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln)
|
rs1207158056
|
|
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=)
|
rs2136574783
|
|
NM_000264.5(PTCH1):c.4157T>A (p.Val1386Asp)
|
|
|
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs)
|
rs1837987148
|
|
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
|
|
|
NM_000264.5(PTCH1):c.4163G>C (p.Gly1388Ala)
|
|
|
NM_000264.5(PTCH1):c.4164G>A (p.Gly1388=)
|
|
|
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
|
|
|
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu)
|
rs1837985101
|
|
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=)
|
rs45535032
|
|
NM_000264.5(PTCH1):c.4174A>G (p.Asn1392Asp)
|
|
|
NM_000264.5(PTCH1):c.4175A>C (p.Asn1392Thr)
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
|
|
|
NM_000264.5(PTCH1):c.4184G>T (p.Gly1395Val)
|
|
|
NM_000264.5(PTCH1):c.4186G>C (p.Gly1396Arg)
|
|
|
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
|
|
|
NM_000264.5(PTCH1):c.4187dup (p.Leu1397fs)
|
rs1588510168
|
|
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.4192T>C (p.Cys1398Arg)
|
rs1372936088
|
|
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
|
|
|
NM_000264.5(PTCH1):c.419T>C (p.Leu140Ser)
|
rs1554702197
|
|
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=)
|
rs1554688167
|
|
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His)
|
rs2136573477
|
|
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys)
|
rs1837975310
|
|
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=)
|
rs1588510064
|
|
NM_000264.5(PTCH1):c.4204C>A (p.Pro1402Thr)
|
|
|
NM_000264.5(PTCH1):c.4204C>T (p.Pro1402Ser)
|
|
|
NM_000264.5(PTCH1):c.4214A>T (p.Asp1405Val)
|
|
|
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=)
|
rs2136573135
|
|
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp)
|
rs1837973275
|
|
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln)
|
rs372558350
|
|
NM_000264.5(PTCH1):c.4221C>T (p.Gly1407=)
|
|
|
NM_000264.5(PTCH1):c.4222C>T (p.Leu1408=)
|
|
|
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
|
|
|
NM_000264.5(PTCH1):c.422A>T (p.Asn141Ile)
|
|
|
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=)
|
rs774528758
|
|
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu)
|
rs1434554186
|
|
NM_000264.5(PTCH1):c.4231G>C (p.Asp1411His)
|
|
|
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu)
|
rs2136572617
|
|
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=)
|
rs2136572617
|
|
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala)
|
rs1554688130
|
|
NM_000264.5(PTCH1):c.4235_4236delinsTG (p.Pro1412Leu)
|
|
|
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.4240_4241delinsCC (p.Val1414Pro)
|
|
|
NM_000264.5(PTCH1):c.4241T>C (p.Val1414Ala)
|
|
|
NM_000264.5(PTCH1):c.4242G>T (p.Val1414=)
|
|
|
NM_000264.5(PTCH1):c.4243C>A (p.Pro1415Thr)
|
|
|
NM_000264.5(PTCH1):c.4243C>T (p.Pro1415Ser)
|
|
|
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu)
|
rs1554688102
|
|
NM_000264.5(PTCH1):c.4248C>T (p.Phe1416=)
|
|
|
NM_000264.5(PTCH1):c.4248_4249delinsTT (p.His1417Tyr)
|
|
|
NM_000264.5(PTCH1):c.4249C>T (p.His1417Tyr)
|
|
|
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
|
|
|
NM_000264.5(PTCH1):c.4251C>A (p.His1417Gln)
|
|
|
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe)
|
rs369882883
|
|
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.4258T>G (p.Cys1420Gly)
|
|
|
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr)
|
rs913816675
|
|
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=)
|
rs2136571795
|
|
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly)
|
rs1246323077
|
|
NM_000264.5(PTCH1):c.4266G>A (p.Arg1422=)
|
|
|
NM_000264.5(PTCH1):c.4268G>T (p.Arg1423Met)
|
|
|
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
|
|
|
NM_000264.5(PTCH1):c.4271A>T (p.Asp1424Val)
|
rs1588509666
|
|
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.4279G>A (p.Val1427Met)
|
|
|
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
|
|
|
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala)
|
rs1060502283
|
|
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
|
|
|
NM_000264.5(PTCH1):c.428C>T (p.Thr143Ile)
|
|
|
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln)
|
rs755078405
|
|
NM_000264.5(PTCH1):c.4296G>C (p.Leu1432=)
|
|
|
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4299G>C (p.Gln1433His)
|
|
|
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly)
|
rs2136571074
|
|
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly)
|
rs2136570975
|
|
NM_000264.5(PTCH1):c.4310G>T (p.Cys1437Phe)
|
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly)
|
rs1564004291
|
|
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys)
|
rs1354112241
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.4323C>T (p.Pro1441=)
|
|
|
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
|
|
|
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly)
|
rs143464326
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.4330A>G (p.Ser1444Gly)
|
|
|
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.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.438G>A (p.Lys146=)
|
|
|
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr)
|
rs1588622790
|
|
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)
|
rs1344258746
|
|
NM_000264.5(PTCH1):c.450G>T (p.Glu150Asp)
|
rs1588622758
|
|
NM_000264.5(PTCH1):c.453T>G (p.Ala151=)
|
rs879188085
|
|
NM_000264.5(PTCH1):c.454A>C (p.Met152Leu)
|
|
|
NM_000264.5(PTCH1):c.456G>A (p.Met152Ile)
|
|
|
NM_000264.5(PTCH1):c.456del (p.Met152fs)
|
|
|
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.470T>C (p.Leu157Pro)
|
rs2118545890
|
|
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu)
|
rs758656848
|
|
NM_000264.5(PTCH1):c.472A>G (p.Met158Val)
|
rs758656848
|
|
NM_000264.5(PTCH1):c.473T>C (p.Met158Thr)
|
|
|
NM_000264.5(PTCH1):c.476T>C (p.Ile159Thr)
|
|
|
NM_000264.5(PTCH1):c.480G>A (p.Gln160=)
|
rs1841921572
|
|
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs)
|
rs1131690981
|
|
NM_000264.5(PTCH1):c.483C>T (p.Thr161=)
|
|
|
NM_000264.5(PTCH1):c.484C>T (p.Pro162Ser)
|
|
|
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu)
|
rs1588622580
|
|
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr)
|
rs56406491
|
|
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
|
|
NM_000264.5(PTCH1):c.491A>G (p.Glu164Gly)
|
|
|
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser)
|
rs2118543729
|
|
NM_000264.5(PTCH1):c.497del (p.Gly166fs)
|
|
|
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val)
|
rs587780707
|
|
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp)
|
rs2118543274
|
|
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>G (p.Leu170Val)
|
rs1841917213
|
|
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.510G>T (p.Leu170=)
|
rs531730217
|
|
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile)
|
rs1554702106
|
|
NM_000264.5(PTCH1):c.513C>G (p.Thr171=)
|
|
|
NM_000264.5(PTCH1):c.516A>G (p.Thr172=)
|
|
|
NM_000264.5(PTCH1):c.517G>A (p.Glu173Lys)
|
|
|
NM_000264.5(PTCH1):c.525C>T (p.Leu175=)
|
rs1554702079
|
|
NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
|
rs1841912540
|
|
NM_000264.5(PTCH1):c.538G>C (p.Asp180His)
|
rs1554702067
|
|
NM_000264.5(PTCH1):c.543G>T (p.Ser181=)
|
|
|
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
|
|
|
NM_000264.5(PTCH1):c.552G>A (p.Gln184=)
|
|
|
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val)
|
rs1276503562
|
|
NM_000264.5(PTCH1):c.555C>T (p.Ala185=)
|
rs1197767332
|
|
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly)
|
rs1564062769
|
|
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys)
|
rs1554702047
|
|
NM_000264.5(PTCH1):c.560G>T (p.Arg187Leu)
|
rs138034434
|
|
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=)
|
|
|
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
|
|
|
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=)
|
rs1249050389
|
|
NM_000264.5(PTCH1):c.575T>G (p.Met192Arg)
|
|
|
NM_000264.5(PTCH1):c.580A>G (p.Asn194Asp)
|
|
|
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.585-15_586del
|
|
|
NM_000264.5(PTCH1):c.585-3T>C
|
|
|
NM_000264.5(PTCH1):c.585-4_585-2del
|
|
|
NM_000264.5(PTCH1):c.585-5A>G
|
rs1588614746
|
|
NM_000264.5(PTCH1):c.587A>G (p.Gln196Arg)
|
|
|
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
|
|
|
NM_000264.5(PTCH1):c.595T>C (p.Leu199=)
|
rs2118474956
|
|
NM_000264.5(PTCH1):c.602A>G (p.His201Arg)
|
|
|
NM_000264.5(PTCH1):c.606G>A (p.Leu202=)
|
rs769719333
|
|
NM_000264.5(PTCH1):c.613A>C (p.Lys205Gln)
|
rs1554700724
|
|
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter)
|
|
|
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr)
|
rs1841595401
|
|
NM_000264.5(PTCH1):c.618A>G (p.Ser206=)
|
rs1841594710
|
|
NM_000264.5(PTCH1):c.623A>G (p.Glu208Gly)
|
|
|
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val)
|
rs1588614551
|
|
NM_000264.5(PTCH1):c.636A>G (p.Glu212=)
|
|
|
NM_000264.5(PTCH1):c.638C>G (p.Thr213Arg)
|
|
|
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val)
|
rs2118472707
|
|
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=)
|
rs878853858
|
|
NM_000264.5(PTCH1):c.654+3A>G
|
rs1131690966
|
|
NM_000264.5(PTCH1):c.655A>T (p.Ile219Leu)
|
|
|
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
|
|
|
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)
|
rs1554700647
|
|
NM_000264.5(PTCH1):c.663A>C (p.Glu221Asp)
|
|
|
NM_000264.5(PTCH1):c.663A>G (p.Glu221=)
|
rs1479973586
|
|
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs)
|
rs1131690993
|
|
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)
|
rs1266754583
|
|
NM_000264.5(PTCH1):c.667C>T (p.Leu223Phe)
|
|
|
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter)
|
rs1588614178
|
|
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=)
|
rs1588614178
|
|
NM_000264.5(PTCH1):c.675T>A (p.Pro225=)
|
|
|
NM_000264.5(PTCH1):c.685A>T (p.Ile229Phe)
|
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser)
|
rs1564057856
|
|
NM_000264.5(PTCH1):c.693T>C (p.Pro231=)
|
|
|
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
|
|
|
NM_000264.5(PTCH1):c.704T>G (p.Phe235Cys)
|
|
|
NM_000264.5(PTCH1):c.705C>T (p.Phe235=)
|
|
|
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr)
|
rs1841573078
|
|
NM_000264.5(PTCH1):c.715dup (p.Ala239fs)
|
rs1131690971
|
|
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
|
|
|
NM_000264.5(PTCH1):c.725A>T (p.Gln242Leu)
|
|
|
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
|
|
|
NM_000264.5(PTCH1):c.726G>T (p.Gln242His)
|
|
|
NM_000264.5(PTCH1):c.730G>T (p.Gly244Trp)
|
|
|
NM_000264.5(PTCH1):c.731G>A (p.Gly244Glu)
|
rs1588614020
|
|
NM_000264.5(PTCH1):c.737C>T (p.Ala246Val)
|
|
|
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)
|
rs1060502281
|
|
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe)
|
rs1841568646
|
|
NM_000264.5(PTCH1):c.746+1G>C
|
rs1131690994
|
|
NM_000264.5(PTCH1):c.746+3A>G
|
rs1841567989
|
|
NM_000264.5(PTCH1):c.750T>G (p.Gly250=)
|
|
|
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu)
|
rs2118428694
|
|
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
|
|
|
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
|
rs1554700016
|
|
NM_000264.5(PTCH1):c.757C>T (p.Pro253Ser)
|
|
|
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp)
|
rs925067209
|
|
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu)
|
rs779870576
|
|
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.779A>C (p.Asp260Ala)
|
rs368102115
|
|
NM_000264.5(PTCH1):c.783T>G (p.Pro261=)
|
rs1554699996
|
|
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser)
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rs1318134628
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NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys)
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rs1588610385
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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.805_806dup (p.Lys270fs)
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NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
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rs1131690969
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NM_000264.5(PTCH1):c.812_814del (p.Ile271del)
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rs1588610299
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NM_000264.5(PTCH1):c.816C>T (p.Asn272=)
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NM_000264.5(PTCH1):c.818A>G (p.Tyr273Cys)
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NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu)
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rs2118422378
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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.829A>G (p.Ser277Gly)
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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.841A>G (p.Met281Val)
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rs2118420301
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NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)
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rs1564055682
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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.866A>G (p.His289Arg)
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NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser)
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rs2118418275
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NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
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rs1588610088
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NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
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rs748727674
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NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)
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rs776187586
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NM_000264.5(PTCH1):c.877_887del (p.Asp293fs)
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rs1131690973
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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.886del (p.Cys296fs)
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rs1131690987
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NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe)
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rs1841445491
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NM_000264.5(PTCH1):c.892A>C (p.Asn298His)
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rs1588609918
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NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
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NM_000264.5(PTCH1):c.892A>T (p.Asn298Tyr)
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NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln)
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rs141939274
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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.901G>C (p.Asp301His)
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NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr)
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rs767601899
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NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
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NM_000264.5(PTCH1):c.904C>T (p.Pro302Ser)
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NM_000264.5(PTCH1):c.905C>T (p.Pro302Leu)
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NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
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NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
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NM_000264.5(PTCH1):c.923C>T (p.Ala308Val)
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NM_000264.5(PTCH1):c.938C>T (p.Ser313Leu)
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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.941_944del (p.Thr314fs)
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NM_000264.5(PTCH1):c.943A>C (p.Lys315Gln)
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NM_000264.5(PTCH1):c.945+1G>A
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rs863224444
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NM_000264.5(PTCH1):c.945+2T>C
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rs1131690979
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NM_000264.5(PTCH1):c.945+5G>A
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rs1588609575
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NM_000264.5(PTCH1):c.946-5T>A
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rs1588608882
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NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
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rs1380199153
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NM_000264.5(PTCH1):c.950T>C (p.Leu317Pro)
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NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
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NM_000264.5(PTCH1):c.954dup (p.Met319fs)
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NM_000264.5(PTCH1):c.956T>G (p.Met319Arg)
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NM_000264.5(PTCH1):c.957G>A (p.Met319Ile)
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NM_000264.5(PTCH1):c.960C>T (p.Ala320=)
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NM_000264.5(PTCH1):c.961C>T (p.Leu321Phe)
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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.973G>A (p.Gly325Ser)
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rs1588608738
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NM_000264.5(PTCH1):c.981T>C (p.Cys327=)
|
rs2118394148
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NM_000264.5(PTCH1):c.983A>G (p.His328Arg)
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NM_000264.5(PTCH1):c.983A>T (p.His328Leu)
|
rs1484111496
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NM_000264.5(PTCH1):c.990A>G (p.Leu330=)
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NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
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NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
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NM_001083603.3(PTCH1):c.147C>G (p.Asn49Lys)
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