NM_000264.5(PTCH1):c.2887+21A>G
|
rs2236406
|
0.44137
|
NM_000264.5(PTCH1):c.*3232G>T
|
rs357565
|
0.24468
|
NM_000264.5(PTCH1):c.*3030A>G
|
rs28485160
|
0.20192
|
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.*2275T>A
|
rs28380046
|
0.09501
|
NM_000264.5(PTCH1):c.1504-8T>C
|
rs2277184
|
0.07277
|
NM_000264.5(PTCH1):c.*237G>C
|
rs28688501
|
0.06717
|
NM_000264.5(PTCH1):c.*1373G>C
|
rs16909865
|
0.05498
|
NM_000264.5(PTCH1):c.*1905C>G
|
rs113213198
|
0.04659
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000264.5(PTCH1):c.*1616A>C
|
rs73540181
|
0.04606
|
NM_000264.5(PTCH1):c.*1709G>A
|
rs73540175
|
0.04602
|
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)
|
rs2066835
|
0.03773
|
NM_000264.5(PTCH1):c.*1702C>T
|
rs115675849
|
0.02824
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000264.5(PTCH1):c.*231T>C
|
rs28401363
|
0.01898
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
NM_000264.5(PTCH1):c.*1535T>C
|
rs112320257
|
0.01438
|
NM_000264.5(PTCH1):c.*1545T>C
|
rs113253600
|
0.01417
|
NM_000264.5(PTCH1):c.*2070C>G
|
rs142942544
|
0.01241
|
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.*3341T>C
|
rs138499623
|
0.00884
|
NM_000264.5(PTCH1):c.*851G>C
|
rs73540186
|
0.00827
|
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.*1066A>C
|
rs185406054
|
0.00673
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_000264.5(PTCH1):c.*3157G>A
|
rs118174136
|
0.00628
|
NM_000264.5(PTCH1):c.*2276A>T
|
rs868749157
|
0.00625
|
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)
|
rs58629309
|
0.00466
|
NM_000264.5(PTCH1):c.*801C>T
|
rs114243832
|
0.00412
|
NM_000264.5(PTCH1):c.*780C>T
|
rs75765727
|
0.00386
|
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)
|
rs111446700
|
0.00379
|
NM_000264.5(PTCH1):c.*1708C>T
|
rs146131736
|
0.00252
|
NM_000264.5(PTCH1):c.3804+32T>C
|
rs199982439
|
0.00236
|
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.*1132G>A
|
rs572803728
|
0.00083
|
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.3805-9C>T
|
rs2236404
|
0.00072
|
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.*1896T>C
|
rs949498288
|
0.00064
|
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.1503+12G>A
|
rs368083214
|
0.00056
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
NM_000264.5(PTCH1):c.3449+15G>A
|
rs190483719
|
0.00052
|
NM_000264.5(PTCH1):c.*2175G>A
|
rs188061818
|
0.00051
|
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.3169-17T>A
|
rs375034864
|
0.00048
|
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.*450A>C
|
rs192994934
|
0.00041
|
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)
|
rs56102979
|
0.00041
|
NM_000264.5(PTCH1):c.945+20G>A
|
rs374618901
|
0.00040
|
NM_000264.5(PTCH1):c.*1889G>A
|
rs565918654
|
0.00037
|
NM_000264.5(PTCH1):c.3169-12G>A
|
rs371887033
|
0.00037
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000264.5(PTCH1):c.*3337T>C
|
rs551093780
|
0.00032
|
NM_000264.5(PTCH1):c.*478A>G
|
rs937053306
|
0.00031
|
NM_000264.5(PTCH1):c.2887+10G>A
|
rs202081420
|
0.00031
|
NM_000264.5(PTCH1):c.*787C>T
|
rs144656847
|
0.00030
|
NM_000264.5(PTCH1):c.1216-6C>A
|
rs186008764
|
0.00027
|
NM_000264.5(PTCH1):c.2704-6T>C
|
rs182321370
|
0.00025
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
NM_000264.5(PTCH1):c.*168C>A
|
rs769353632
|
0.00024
|
NM_000264.5(PTCH1):c.584+14C>T
|
rs372641261
|
0.00024
|
NM_000264.5(PTCH1):c.*3138T>C
|
rs548583404
|
0.00023
|
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.*750G>A
|
rs777077097
|
0.00017
|
NM_000264.5(PTCH1):c.1728+16T>A
|
rs758961945
|
0.00017
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000264.5(PTCH1):c.*3272C>T
|
rs963000528
|
0.00016
|
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.*1358G>A
|
rs756098510
|
0.00014
|
NM_000264.5(PTCH1):c.*2425A>C
|
rs932959120
|
0.00014
|
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.*859C>T
|
rs775198573
|
0.00012
|
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.2561-7T>C
|
rs112140654
|
0.00011
|
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)
|
rs138034434
|
0.00011
|
NM_000264.5(PTCH1):c.*2644A>C
|
rs773680534
|
0.00010
|
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.*2795G>T
|
rs773035324
|
0.00009
|
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.*2737C>A
|
rs1038475537
|
0.00008
|
NM_000264.5(PTCH1):c.*762G>C
|
rs763571205
|
0.00008
|
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.*1648A>G
|
rs1057515713
|
0.00007
|
NM_000264.5(PTCH1):c.201+19C>T
|
rs765308113
|
0.00007
|
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile)
|
rs376084632
|
0.00007
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)
|
rs767792734
|
0.00007
|
NM_000264.5(PTCH1):c.3805-14C>G
|
rs771678354
|
0.00007
|
NM_000264.5(PTCH1):c.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.*623C>T
|
rs776158552
|
0.00006
|
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.3449+11G>A
|
rs568528640
|
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.946-13C>T
|
rs200749389
|
0.00006
|
NM_000264.5(PTCH1):c.1404C>T (p.Ala468=)
|
rs201246004
|
0.00005
|
NM_000264.5(PTCH1):c.2704-10G>A
|
rs566679986
|
0.00005
|
NM_000264.5(PTCH1):c.2704-11C>T
|
rs779097397
|
0.00005
|
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)
|
rs201118857
|
0.00005
|
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=)
|
rs765072884
|
0.00005
|
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=)
|
rs1161608601
|
0.00005
|
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)
|
rs771238114
|
0.00005
|
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln)
|
rs372686352
|
0.00005
|
NM_000264.5(PTCH1):c.*1153C>G
|
rs770443972
|
0.00004
|
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.2561-10C>T
|
rs763935951
|
0.00004
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
NM_000264.5(PTCH1):c.2703+14T>C
|
rs764551190
|
0.00004
|
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=)
|
rs587780534
|
0.00004
|
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=)
|
rs764854579
|
0.00004
|
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)
|
rs587780699
|
0.00004
|
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=)
|
rs377213209
|
0.00004
|
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)
|
rs769924767
|
0.00004
|
NM_000264.5(PTCH1):c.3169-11C>T
|
rs377346472
|
0.00004
|
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His)
|
rs143781513
|
0.00004
|
NM_000264.5(PTCH1):c.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.3450-15C>T
|
rs755474627
|
0.00004
|
NM_000264.5(PTCH1):c.3549+14C>T
|
rs753297713
|
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.394+12C>T
|
rs371356396
|
0.00004
|
NM_000264.5(PTCH1):c.3948C>T (p.Tyr1316=)
|
rs778029634
|
0.00004
|
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)
|
rs371761874
|
0.00004
|
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)
|
rs781539921
|
0.00004
|
NM_000264.5(PTCH1):c.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.584+10G>A
|
rs765713791
|
0.00004
|
NM_000264.5(PTCH1):c.584+19A>G
|
rs374707429
|
0.00004
|
NM_000264.5(PTCH1):c.588G>A (p.Gln196=)
|
rs775859621
|
0.00004
|
NM_000264.5(PTCH1):c.624G>A (p.Glu208=)
|
rs777231059
|
0.00004
|
NM_000264.5(PTCH1):c.897G>A (p.Pro299=)
|
rs56141639
|
0.00004
|
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)
|
rs185570125
|
0.00004
|
NM_000264.5(PTCH1):c.*153T>C
|
rs576864680
|
0.00003
|
NM_000264.5(PTCH1):c.*2180C>T
|
rs1357696436
|
0.00003
|
NM_000264.5(PTCH1):c.*3111G>A
|
rs1395471972
|
0.00003
|
NM_000264.5(PTCH1):c.*556G>A
|
rs964764151
|
0.00003
|
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=)
|
rs201602238
|
0.00003
|
NM_000264.5(PTCH1):c.1215+19C>T
|
rs755461123
|
0.00003
|
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=)
|
rs200313703
|
0.00003
|
NM_000264.5(PTCH1):c.1347+10G>A
|
rs370916305
|
0.00003
|
NM_000264.5(PTCH1):c.1347+15C>T
|
rs377622963
|
0.00003
|
NM_000264.5(PTCH1):c.1348-4G>A
|
rs772826555
|
0.00003
|
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=)
|
rs369109033
|
0.00003
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
NM_000264.5(PTCH1):c.1473C>T (p.Ile491=)
|
rs768183391
|
0.00003
|
NM_000264.5(PTCH1):c.1608G>A (p.Arg536=)
|
rs747086234
|
0.00003
|
NM_000264.5(PTCH1):c.201+16T>C
|
rs766739273
|
0.00003
|
NM_000264.5(PTCH1):c.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.2887+19G>C
|
rs778051088
|
0.00003
|
NM_000264.5(PTCH1):c.2988C>T (p.Thr996=)
|
rs759501618
|
0.00003
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=)
|
rs751797047
|
0.00003
|
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=)
|
rs370906015
|
0.00003
|
NM_000264.5(PTCH1):c.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.3904C>T (p.Pro1302Ser)
|
rs747093389
|
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.654+13C>G
|
rs746323188
|
0.00003
|
NM_000264.5(PTCH1):c.655-12T>C
|
rs376472172
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)
|
rs1421967825
|
0.00003
|
NM_000264.5(PTCH1):c.900C>T (p.Ala300=)
|
rs201962105
|
0.00003
|
NM_000264.5(PTCH1):c.930C>T (p.Asn310=)
|
rs768166430
|
0.00003
|
NM_000264.5(PTCH1):c.945+19C>T
|
rs538776608
|
0.00003
|
NM_000264.5(PTCH1):c.975T>C (p.Gly325=)
|
rs149018937
|
0.00003
|
NM_000264.5(PTCH1):c.*1167A>G
|
rs192352160
|
0.00002
|
NM_000264.5(PTCH1):c.*1220A>G
|
rs930382710
|
0.00002
|
NM_000264.5(PTCH1):c.*1885G>A
|
rs892705165
|
0.00002
|
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.1067+14C>T
|
rs759069478
|
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.1140G>A (p.Glu380=)
|
rs764896299
|
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.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000264.5(PTCH1):c.1216-10G>A
|
rs587780691
|
0.00002
|
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=)
|
rs150837425
|
0.00002
|
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met)
|
rs759493890
|
0.00002
|
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=)
|
rs373930674
|
0.00002
|
NM_000264.5(PTCH1):c.1348-20C>T
|
rs771558986
|
0.00002
|
NM_000264.5(PTCH1):c.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.3676A>G (p.Ser1226Gly)
|
rs890755179
|
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.3965C>G (p.Ala1322Gly)
|
rs1054532927
|
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.4085C>T (p.Pro1362Leu)
|
rs777731495
|
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.584+13G>A
|
rs529799940
|
0.00002
|
NM_000264.5(PTCH1):c.654+4T>C
|
rs758839801
|
0.00002
|
NM_000264.5(PTCH1):c.655-5G>T
|
rs776683312
|
0.00002
|
NM_000264.5(PTCH1):c.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.946-13del
|
rs777246500
|
0.00002
|
NM_000264.5(PTCH1):c.955A>G (p.Met319Val)
|
rs1438545679
|
0.00002
|
NM_000264.5(PTCH1):c.*1556T>G
|
rs572321616
|
0.00001
|
NM_000264.5(PTCH1):c.*1904T>C
|
rs992648722
|
0.00001
|
NM_000264.5(PTCH1):c.*2001C>T
|
rs531230280
|
0.00001
|
NM_000264.5(PTCH1):c.*2096G>A
|
rs1331556943
|
0.00001
|
NM_000264.5(PTCH1):c.*3080G>T
|
rs1006981555
|
0.00001
|
NM_000264.5(PTCH1):c.*3209T>C
|
rs757611119
|
0.00001
|
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.1067+15G>A
|
rs773933111
|
0.00001
|
NM_000264.5(PTCH1):c.1068-8T>C
|
rs1194212093
|
0.00001
|
NM_000264.5(PTCH1):c.1068-9G>A
|
rs863224344
|
0.00001
|
NM_000264.5(PTCH1):c.1068C>T (p.Ser356=)
|
rs1051875027
|
0.00001
|
NM_000264.5(PTCH1):c.1083G>A (p.Gln361=)
|
rs1554699269
|
0.00001
|
NM_000264.5(PTCH1):c.1086C>T (p.Thr362=)
|
rs777969745
|
0.00001
|
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val)
|
rs753152792
|
0.00001
|
NM_000264.5(PTCH1):c.1104T>C (p.Thr368=)
|
rs1436332323
|
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.1215+10C>T
|
rs1444052168
|
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.1277C>T (p.Thr426Ile)
|
rs755787454
|
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.1317C>T (p.Val439=)
|
rs755904085
|
0.00001
|
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)
|
rs752530755
|
0.00001
|
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)
|
rs767273237
|
0.00001
|
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=)
|
rs537660949
|
0.00001
|
NM_000264.5(PTCH1):c.1347+16A>G
|
rs779587353
|
0.00001
|
NM_000264.5(PTCH1):c.1347+17T>C
|
rs373179629
|
0.00001
|
NM_000264.5(PTCH1):c.1347+19C>T
|
rs748811098
|
0.00001
|
NM_000264.5(PTCH1):c.1347+5C>T
|
rs567257548
|
0.00001
|
NM_000264.5(PTCH1):c.1347+9C>T
|
rs775905392
|
0.00001
|
NM_000264.5(PTCH1):c.1353C>G (p.Ala451=)
|
rs754741810
|
0.00001
|
NM_000264.5(PTCH1):c.1353C>T (p.Ala451=)
|
rs754741810
|
0.00001
|
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg)
|
rs756171491
|
0.00001
|
NM_000264.5(PTCH1):c.1407G>A (p.Val469=)
|
rs1378167817
|
0.00001
|
NM_000264.5(PTCH1):c.1413G>A (p.Leu471=)
|
rs1588600742
|
0.00001
|
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=)
|
rs774841100
|
0.00001
|
NM_000264.5(PTCH1):c.1431T>C (p.Val477=)
|
rs147162848
|
0.00001
|
NM_000264.5(PTCH1):c.1461G>A (p.Leu487=)
|
rs1398912905
|
0.00001
|
NM_000264.5(PTCH1):c.1467A>G (p.Ser489=)
|
rs747623182
|
0.00001
|
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr)
|
rs1398130707
|
0.00001
|
NM_000264.5(PTCH1):c.1503+19A>T
|
rs201193230
|
0.00001
|
NM_000264.5(PTCH1):c.1503+6A>G
|
rs1841148776
|
0.00001
|
NM_000264.5(PTCH1):c.1503+9G>A
|
rs1188833495
|
0.00001
|
NM_000264.5(PTCH1):c.1504-4del
|
rs1182409968
|
0.00001
|
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr)
|
rs745669155
|
0.00001
|
NM_000264.5(PTCH1):c.1552C>T (p.Leu518=)
|
rs1163742413
|
0.00001
|
NM_000264.5(PTCH1):c.1557C>T (p.Ala519=)
|
rs749296474
|
0.00001
|
NM_000264.5(PTCH1):c.1560C>T (p.His520=)
|
rs952270018
|
0.00001
|
NM_000264.5(PTCH1):c.1603-16G>T
|
rs1269440132
|
0.00001
|
NM_000264.5(PTCH1):c.1603-9T>A
|
rs1471375018
|
0.00001
|
NM_000264.5(PTCH1):c.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.164A>T (p.Tyr55Phe)
|
rs1205081001
|
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.1728+15A>G
|
rs771991404
|
0.00001
|
NM_000264.5(PTCH1):c.1728+7T>C
|
rs776735470
|
0.00001
|
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly)
|
rs1296707371
|
0.00001
|
NM_000264.5(PTCH1):c.198C>G (p.Ser66=)
|
rs1355794957
|
0.00001
|
NM_000264.5(PTCH1):c.201+17C>A
|
rs750650083
|
0.00001
|
NM_000264.5(PTCH1):c.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.2561-20C>A
|
rs1361292543
|
0.00001
|
NM_000264.5(PTCH1):c.2580C>T (p.Asp860=)
|
rs1839517366
|
0.00001
|
NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala)
|
rs1186399866
|
0.00001
|
NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg)
|
rs765578315
|
0.00001
|
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser)
|
rs769029578
|
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.2703+13C>T
|
rs1431171944
|
0.00001
|
NM_000264.5(PTCH1):c.2704-13C>T
|
rs1447832961
|
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.2820C>T (p.Asn940=)
|
rs778138969
|
0.00001
|
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp)
|
rs756465236
|
0.00001
|
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln)
|
rs768039033
|
0.00001
|
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu)
|
rs1587693508
|
0.00001
|
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn)
|
rs1588544328
|
0.00001
|
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly)
|
rs752126122
|
0.00001
|
NM_000264.5(PTCH1):c.285A>G (p.Gln95=)
|
rs140051386
|
0.00001
|
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn)
|
rs772662871
|
0.00001
|
NM_000264.5(PTCH1):c.2887+17C>T
|
rs771970960
|
0.00001
|
NM_000264.5(PTCH1):c.2887+18G>A
|
rs749377356
|
0.00001
|
NM_000264.5(PTCH1):c.2887+9C>T
|
rs746863062
|
0.00001
|
NM_000264.5(PTCH1):c.2888-6G>A
|
rs775208484
|
0.00001
|
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)
|
rs377120922
|
0.00001
|
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=)
|
rs147044276
|
0.00001
|
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His)
|
rs587780700
|
0.00001
|
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)
|
rs758907408
|
0.00001
|
NM_000264.5(PTCH1):c.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.2955A>C (p.Ser985=)
|
rs1060504532
|
0.00001
|
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=)
|
rs752508525
|
0.00001
|
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys)
|
rs1036074195
|
0.00001
|
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu)
|
rs1257244317
|
0.00001
|
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys)
|
rs1472299295
|
0.00001
|
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg)
|
rs1181905241
|
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.3128G>T (p.Cys1043Phe)
|
rs1345405015
|
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.3168+16G>C
|
rs754733018
|
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.3239C>T (p.Ala1080Val)
|
rs781188522
|
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.3322A>G (p.Ile1108Val)
|
rs866037881
|
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.337G>T (p.Ala113Ser)
|
rs1843653911
|
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.3449+10C>T
|
rs371546179
|
0.00001
|
NM_000264.5(PTCH1):c.3449+7A>T
|
rs374907800
|
0.00001
|
NM_000264.5(PTCH1):c.3450-20G>A
|
rs781454030
|
0.00001
|
NM_000264.5(PTCH1):c.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.3477C>T (p.Leu1159=)
|
rs1838313389
|
0.00001
|
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)
|
rs147633236
|
0.00001
|
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)
|
rs371346118
|
0.00001
|
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val)
|
rs772200521
|
0.00001
|
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=)
|
rs864622621
|
0.00001
|
NM_000264.5(PTCH1):c.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.3804+18A>G
|
rs1838202750
|
0.00001
|
NM_000264.5(PTCH1):c.3804+6T>G
|
rs1298248967
|
0.00001
|
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)
|
rs951501624
|
0.00001
|
NM_000264.5(PTCH1):c.3805-19C>T
|
rs375522977
|
0.00001
|
NM_000264.5(PTCH1):c.3805-20C>T
|
rs1264140680
|
0.00001
|
NM_000264.5(PTCH1):c.3805-8C>G
|
rs1056411006
|
0.00001
|
NM_000264.5(PTCH1):c.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.3875C>T (p.Ser1292Phe)
|
rs760216958
|
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.3916C>A (p.Pro1306Thr)
|
rs1169961504
|
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.394+10C>T
|
rs755119764
|
0.00001
|
NM_000264.5(PTCH1):c.394+13G>T
|
rs1444907229
|
0.00001
|
NM_000264.5(PTCH1):c.394+15C>G
|
rs771281691
|
0.00001
|
NM_000264.5(PTCH1):c.394+18G>A
|
rs749589611
|
0.00001
|
NM_000264.5(PTCH1):c.394+6_394+17del
|
rs774338309
|
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.3943C>T (p.Pro1315Ser)
|
rs746022197
|
0.00001
|
NM_000264.5(PTCH1):c.395-12C>T
|
rs374019375
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000264.5(PTCH1):c.395-8T>A
|
rs755013836
|
0.00001
|
NM_000264.5(PTCH1):c.395-9A>G
|
rs781395697
|
0.00001
|
NM_000264.5(PTCH1):c.3951A>G (p.Arg1317=)
|
rs1211632031
|
0.00001
|
NM_000264.5(PTCH1):c.3975T>A (p.Ile1325=)
|
rs45504199
|
0.00001
|
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp)
|
rs1394160194
|
0.00001
|
NM_000264.5(PTCH1):c.4014C>T (p.Arg1338=)
|
rs1257662475
|
0.00001
|
NM_000264.5(PTCH1):c.4041C>T (p.His1347=)
|
rs774524114
|
0.00001
|
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp)
|
rs766576144
|
0.00001
|
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)
|
rs371943557
|
0.00001
|
NM_000264.5(PTCH1):c.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.4178C>G (p.Pro1393Arg)
|
rs1368334005
|
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.4237C>T (p.His1413Tyr)
|
rs772886108
|
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.4291G>A (p.Glu1431Lys)
|
rs766876016
|
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.454A>G (p.Met152Val)
|
rs766905791
|
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.528A>G (p.Leu176=)
|
rs771039964
|
0.00001
|
NM_000264.5(PTCH1):c.534C>T (p.His178=)
|
rs749224677
|
0.00001
|
NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu)
|
rs868350953
|
0.00001
|
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val)
|
rs567721919
|
0.00001
|
NM_000264.5(PTCH1):c.552G>T (p.Gln184His)
|
rs369893129
|
0.00001
|
NM_000264.5(PTCH1):c.574A>G (p.Met192Val)
|
rs763513784
|
0.00001
|
NM_000264.5(PTCH1):c.584+12C>T
|
rs375797579
|
0.00001
|
NM_000264.5(PTCH1):c.584+15G>A
|
rs368571192
|
0.00001
|
NM_000264.5(PTCH1):c.584+18C>T
|
rs775769741
|
0.00001
|
NM_000264.5(PTCH1):c.584+6G>A
|
rs1282207631
|
0.00001
|
NM_000264.5(PTCH1):c.584+9C>T
|
rs750895460
|
0.00001
|
NM_000264.5(PTCH1):c.594A>G (p.Lys198=)
|
rs1341335793
|
0.00001
|
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr)
|
rs1261920867
|
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.652C>G (p.Gln218Glu)
|
rs1841591077
|
0.00001
|
NM_000264.5(PTCH1):c.655-17C>G
|
rs1028803378
|
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.746+7G>A
|
rs369770500
|
0.00001
|
NM_000264.5(PTCH1):c.747-20T>C
|
rs778453806
|
0.00001
|
NM_000264.5(PTCH1):c.747-8T>C
|
rs780639292
|
0.00001
|
NM_000264.5(PTCH1):c.747-9C>A
|
rs747672519
|
0.00001
|
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg)
|
rs754650075
|
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.878A>G (p.Asp293Gly)
|
rs768095469
|
0.00001
|
NM_000264.5(PTCH1):c.881G>A (p.Arg294His)
|
rs878853859
|
0.00001
|
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser)
|
rs1456514392
|
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.944A>C (p.Lys315Thr)
|
rs746517321
|
0.00001
|
NM_000264.5(PTCH1):c.945+10A>C
|
rs771708898
|
0.00001
|
NM_000264.5(PTCH1):c.946-18G>T
|
rs1447732065
|
0.00001
|
NM_000264.5(PTCH1):c.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
|
GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1
|
|
|
NC_000009.11:g.(?_98204264)_(98271831_?)del
|
|
|
NC_000009.11:g.(?_98209194)_(98220585_?)del
|
|
|
NC_000009.11:g.(?_98226337)_(98248166_?)dup
|
|
|
NC_000009.11:g.(?_98229388)_(98231445_?)del
|
|
|
NC_000009.11:g.(?_98229392)_(98232219_?)del
|
|
|
NC_000009.11:g.(?_98231023)_(98232223_?)del
|
|
|
NC_000009.11:g.(?_98237055)_(98242741_?)del
|
|
|
NC_000009.11:g.(?_98238306)_(98238451_?)del
|
|
|
NC_000009.11:g.(?_98238306)_(98279100_?)del
|
|
|
NC_000009.11:g.(?_98239031)_(98279100_?)del
|
|
|
NC_000009.11:g.(?_98241272)_(98248166_?)dup
|
|
|
NC_000009.11:g.(?_98247957)_(98248166_?)del
|
|
|
NC_000009.11:g.(?_98268679)_(98279100_?)dup
|
|
|
NC_000009.12:g.(?_95446912)_(95508361_?)dup
|
|
|
NC_000009.12:g.(?_95446912)_(95516818_?)del
|
|
|
NC_000009.12:g.(?_95449059)_(95449950_?)del
|
|
|
NC_000009.12:g.(?_95456266)_(95459793_?)del
|
|
|
NC_000009.12:g.95449841dup
|
rs2136607401
|
|
NC_000009.12:g.95482041_95482042insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATATTCTATTATC
|
rs2118466034
|
|
NM_000264.3(PTCH1):c.1779_2195del
|
|
|
NM_000264.3(PTCH1):c.3168+763_4244del
|
|
|
NM_000264.5(PTCH1):c.*105G>A
|
rs142840663
|
|
NM_000264.5(PTCH1):c.*1075A>C
|
rs1020973772
|
|
NM_000264.5(PTCH1):c.*1256C>T
|
rs187832324
|
|
NM_000264.5(PTCH1):c.*1353T>C
|
rs1837774312
|
|
NM_000264.5(PTCH1):c.*1413C>G
|
rs1057515714
|
|
NM_000264.5(PTCH1):c.*1638A>G
|
rs1039220329
|
|
NM_000264.5(PTCH1):c.*1757C>T
|
rs1837735115
|
|
NM_000264.5(PTCH1):c.*1866TG[10]
|
rs59205702
|
|
NM_000264.5(PTCH1):c.*1866TG[12]
|
rs59205702
|
|
NM_000264.5(PTCH1):c.*186T>G
|
rs977327674
|
|
NM_000264.5(PTCH1):c.*1893GT[4]
|
rs531572088
|
|
NM_000264.5(PTCH1):c.*2146A>G
|
rs538345753
|
|
NM_000264.5(PTCH1):c.*2263T>A
|
rs1837680803
|
|
NM_000264.5(PTCH1):c.*2288dup
|
rs548096592
|
|
NM_000264.5(PTCH1):c.*2414C>G
|
rs776036229
|
|
NM_000264.5(PTCH1):c.*248C>T
|
rs576591779
|
|
NM_000264.5(PTCH1):c.*2988TTGT[1]
|
rs139748418
|
|
NM_000264.5(PTCH1):c.*3213T>C
|
rs992312438
|
|
NM_000264.5(PTCH1):c.*592C>T
|
rs890920802
|
|
NM_000264.5(PTCH1):c.*62C>T
|
rs1837877053
|
|
NM_000264.5(PTCH1):c.*664dup
|
rs111365480
|
|
NM_000264.5(PTCH1):c.*748_*749insACTT
|
rs147342582
|
|
NM_000264.5(PTCH1):c.*748_*749insATTT
|
rs1554687587
|
|
NM_000264.5(PTCH1):c.*903G>A
|
rs188320042
|
|
NM_000264.5(PTCH1):c.*943T>C
|
rs538912814
|
|
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
|
|
|
NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)
|
rs145867500
|
|
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
|
|
|
NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr)
|
rs749049752
|
|
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
|
|
|
NM_000264.5(PTCH1):c.1006del (p.His336fs)
|
rs2118392260
|
|
NM_000264.5(PTCH1):c.1007_1010dup (p.Trp337Ter)
|
|
|
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.1009T>A (p.Trp337Arg)
|
rs2118391966
|
|
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)
|
|
|
NM_000264.5(PTCH1):c.1012C>T (p.Gln338Ter)
|
rs1841404957
|
|
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
|
|
|
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
|
|
|
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met)
|
rs780256480
|
|
NM_000264.5(PTCH1):c.1023G>A (p.Leu341=)
|
|
|
NM_000264.5(PTCH1):c.1026T>A (p.Ile342=)
|
|
|
NM_000264.5(PTCH1):c.1026T>C (p.Ile342=)
|
|
|
NM_000264.5(PTCH1):c.1027G>A (p.Val343Met)
|
rs1564054554
|
|
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu)
|
rs1564054554
|
|
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys)
|
rs2118390055
|
|
NM_000264.5(PTCH1):c.1031G>A (p.Gly344Asp)
|
rs758585782
|
|
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
|
|
|
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala)
|
rs1841400368
|
|
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile)
|
rs1841400047
|
|
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe)
|
rs1060502279
|
|
NM_000264.5(PTCH1):c.1041C>G (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1041C>T (p.Val347=)
|
rs1588608374
|
|
NM_000264.5(PTCH1):c.1045_1048dup (p.Ser350fs)
|
rs2118388624
|
|
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=)
|
rs2118388662
|
|
NM_000264.5(PTCH1):c.1047del (p.Asn349fs)
|
|
|
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys)
|
rs2118388571
|
|
NM_000264.5(PTCH1):c.1051del (p.Thr351fs)
|
rs2118388351
|
|
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
|
|
|
NM_000264.5(PTCH1):c.1053T>C (p.Thr351=)
|
|
|
NM_000264.5(PTCH1):c.1055del (p.Gly352fs)
|
rs2118388096
|
|
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=)
|
rs1841396845
|
|
NM_000264.5(PTCH1):c.1059A>G (p.Lys353=)
|
rs1588608299
|
|
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe)
|
rs1588608286
|
|
NM_000264.5(PTCH1):c.1062C>G (p.Leu354=)
|
rs1554699558
|
|
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=)
|
rs1554699558
|
|
NM_000264.5(PTCH1):c.1065C>G (p.Val355=)
|
rs2118387266
|
|
NM_000264.5(PTCH1):c.1067+16A>C
|
|
|
NM_000264.5(PTCH1):c.1067+1G>T
|
rs2118387075
|
|
NM_000264.5(PTCH1):c.1067+20C>T
|
rs1015971517
|
|
NM_000264.5(PTCH1):c.1067+2T>A
|
|
|
NM_000264.5(PTCH1):c.1067+5G>T
|
rs372657547
|
|
NM_000264.5(PTCH1):c.1067+6C>G
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.1067+6C>T
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.1067+7C>G
|
rs2118386733
|
|
NM_000264.5(PTCH1):c.1068-10TG[3]
|
rs748406293
|
|
NM_000264.5(PTCH1):c.1068-18C>A
|
|
|
NM_000264.5(PTCH1):c.1068-2A>C
|
|
|
NM_000264.5(PTCH1):c.1068-2A>G
|
rs1060502271
|
|
NM_000264.5(PTCH1):c.1068-2A>T
|
rs1060502271
|
|
NM_000264.5(PTCH1):c.1068-3C>T
|
rs1841335848
|
|
NM_000264.5(PTCH1):c.1068-4G>A
|
|
|
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val)
|
rs1841334350
|
|
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
|
|
|
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val)
|
rs1302357924
|
|
NM_000264.5(PTCH1):c.1078C>T (p.Leu360=)
|
rs2118368238
|
|
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro)
|
rs2118368178
|
|
NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)
|
rs199476090
|
|
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=)
|
rs777969745
|
|
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.1092C>G (p.Phe364Leu)
|
rs2118367698
|
|
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)
|
rs267606984
|
|
NM_000264.5(PTCH1):c.1097T>G (p.Leu366Ter)
|
rs1841329871
|
|
NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)
|
|
|
NM_000264.5(PTCH1):c.1098A>G (p.Leu366=)
|
rs2118367508
|
|
NM_000264.5(PTCH1):c.1104del (p.Lys370fs)
|
|
|
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met)
|
rs768024586
|
|
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
|
|
|
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
|
|
|
NM_000264.5(PTCH1):c.1120G>T (p.Glu374Ter)
|
rs144323077
|
|
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
|
|
|
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
|
|
|
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)
|
|
|
NM_000264.5(PTCH1):c.1127del (p.Phe376fs)
|
|
|
NM_000264.5(PTCH1):c.1128del (p.Phe376fs)
|
rs1588605746
|
|
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu)
|
rs1588605721
|
|
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.1135dup (p.Tyr379fs)
|
rs1554699216
|
|
NM_000264.5(PTCH1):c.1136A>G (p.Tyr379Cys)
|
rs1841324703
|
|
NM_000264.5(PTCH1):c.1138G>T (p.Glu380Ter)
|
rs772903899
|
|
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile)
|
rs1841323482
|
|
NM_000264.5(PTCH1):c.1148C>A (p.Ser383Ter)
|
|
|
NM_000264.5(PTCH1):c.1149A>C (p.Ser383=)
|
|
|
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp)
|
rs2118365949
|
|
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
|
|
|
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro)
|
rs1220687550
|
|
NM_000264.5(PTCH1):c.1151del (p.His384fs)
|
rs1841322999
|
|
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1152C>T (p.His384=)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr)
|
rs2118365611
|
|
NM_000264.5(PTCH1):c.1155del (p.Asn386fs)
|
rs1060502297
|
|
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser)
|
rs1564053157
|
|
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)
|
rs2118365442
|
|
NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)
|
rs1588605485
|
|
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
|
|
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1167G>A (p.Glu389=)
|
rs2118365266
|
|
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His)
|
rs1588605451
|
|
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg)
|
rs1554699163
|
|
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=)
|
rs2118365117
|
|
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu)
|
rs202020837
|
|
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val)
|
rs2118364801
|
|
NM_000264.5(PTCH1):c.1183_1187dup (p.Glu397fs)
|
rs1841317825
|
|
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)
|
rs371424684
|
|
NM_000264.5(PTCH1):c.1190_1197del (p.Glu397fs)
|
rs1564053040
|
|
NM_000264.5(PTCH1):c.1191G>A (p.Glu397=)
|
|
|
NM_000264.5(PTCH1):c.1194C>A (p.Ala398=)
|
|
|
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
|
|
|
NM_000264.5(PTCH1):c.1197del (p.Trp399fs)
|
rs2118364366
|
|
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)
|
rs1588605348
|
|
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys)
|
rs1588605278
|
|
NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs)
|
rs1060502286
|
|
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
|
|
|
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)
|
rs1432645175
|
|
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
|
|
|
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
|
|
|
NM_000264.5(PTCH1):c.1215+10C>A
|
rs1444052168
|
|
NM_000264.5(PTCH1):c.1215+15G>A
|
rs781602634
|
|
NM_000264.5(PTCH1):c.1215+15G>T
|
rs781602634
|
|
NM_000264.5(PTCH1):c.1215+20G>A
|
|
|
NM_000264.5(PTCH1):c.1215+4A>T
|
|
|
NM_000264.5(PTCH1):c.1215+5A>T
|
|
|
NM_000264.5(PTCH1):c.1215+6C>A
|
|
|
NM_000264.5(PTCH1):c.1215+6C>G
|
rs1371005350
|
|
NM_000264.5(PTCH1):c.1215+8C>T
|
rs1588605206
|
|
NM_000264.5(PTCH1):c.1215+9A>G
|
|
|
NM_000264.5(PTCH1):c.1216-10G>T
|
rs587780691
|
|
NM_000264.5(PTCH1):c.1216-11T>C
|
rs2118340723
|
|
NM_000264.5(PTCH1):c.1216-13G>A
|
|
|
NM_000264.5(PTCH1):c.1216-16T>C
|
|
|
NM_000264.5(PTCH1):c.1216-18A>G
|
|
|
NM_000264.5(PTCH1):c.1216-18A>T
|
|
|
NM_000264.5(PTCH1):c.1216-19C>T
|
|
|
NM_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.1216-20G>A
|
rs747471269
|
|
NM_000264.5(PTCH1):c.1216-20G>T
|
|
|
NM_000264.5(PTCH1):c.1216-8G>A
|
|
|
NM_000264.5(PTCH1):c.1218G>C (p.Val406=)
|
|
|
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
|
|
|
NM_000264.5(PTCH1):c.1221T>A (p.Val407=)
|
rs2118339817
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1224T>C (p.His408=)
|
|
|
NM_000264.5(PTCH1):c.1224del (p.Gln409fs)
|
|
|
NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)
|
rs1588603014
|
|
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg)
|
rs1841233191
|
|
NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)
|
|
|
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
|
|
|
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
|
|
|
NM_000264.5(PTCH1):c.1231_1232del (p.Val411fs)
|
rs2118338822
|
|
NM_000264.5(PTCH1):c.1231_1232dup (p.Ala412fs)
|
|
|
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.1237C>T (p.Gln413Ter)
|
rs2118338419
|
|
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser)
|
rs2118338120
|
|
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys)
|
rs1588602943
|
|
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile)
|
rs201174718
|
|
NM_000264.5(PTCH1):c.1248T>C (p.Thr416=)
|
rs863224345
|
|
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg)
|
rs1060502270
|
|
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=)
|
rs2118337388
|
|
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
|
|
|
NM_000264.5(PTCH1):c.1253del (p.Lys418fs)
|
rs2118337307
|
|
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn)
|
rs1227338966
|
|
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
|
|
|
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu)
|
rs202136156
|
|
NM_000264.5(PTCH1):c.1257G>A (p.Val419=)
|
rs1060504535
|
|
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe)
|
rs1841229239
|
|
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs)
|
rs2118336503
|
|
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe)
|
rs1285775586
|
|
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
|
|
|
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=)
|
rs998906518
|
|
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
|
|
|
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>G (p.Thr426Ala)
|
|
|
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.1283A>T (p.Asp428Val)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly)
|
rs1588602719
|
|
NM_000264.5(PTCH1):c.1287C>T (p.Asp429=)
|
rs2118333811
|
|
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
|
|
|
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val)
|
rs1416185684
|
|
NM_000264.5(PTCH1):c.1291C>T (p.Leu431=)
|
rs1416185684
|
|
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro)
|
rs1564051512
|
|
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
|
|
|
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn)
|
rs1564051490
|
|
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
|
|
|
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=)
|
rs1366832439
|
|
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
|
|
|
NM_000264.5(PTCH1):c.1299_1302dup (p.Ser435fs)
|
|
|
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu)
|
rs2118332463
|
|
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser)
|
rs1841222850
|
|
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
|
|
|
NM_000264.5(PTCH1):c.1302C>T (p.Phe434=)
|
rs2118332323
|
|
NM_000264.5(PTCH1):c.1303dup (p.Ser435fs)
|
rs2118332288
|
|
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys)
|
rs2118332232
|
|
NM_000264.5(PTCH1):c.1305T>A (p.Ser435=)
|
rs1554698806
|
|
NM_000264.5(PTCH1):c.1305T>C (p.Ser435=)
|
|
|
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
|
|
|
NM_000264.5(PTCH1):c.1307dup (p.Asp436fs)
|
rs1554698800
|
|
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)
|
rs148471237
|
|
NM_000264.5(PTCH1):c.1308del (p.Asp436fs)
|
rs1060502295
|
|
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>T (p.Ser438Ile)
|
|
|
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg)
|
rs1588602538
|
|
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
|
|
|
NM_000264.5(PTCH1):c.1321del (p.Arg441fs)
|
|
|
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro)
|
rs767273237
|
|
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=)
|
rs1060504540
|
|
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
|
|
|
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)
|
rs759493890
|
|
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser)
|
rs2118330345
|
|
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1329del (p.Ser444fs)
|
rs864622374
|
|
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn)
|
rs1588602411
|
|
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg)
|
rs373930674
|
|
NM_000264.5(PTCH1):c.1332_1333insAA (p.Gly445fs)
|
rs1841217203
|
|
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser)
|
rs2118329828
|
|
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp)
|
rs2118329688
|
|
NM_000264.5(PTCH1):c.1334del (p.Gly445fs)
|
rs1131690978
|
|
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1338C>A (p.Tyr446Ter)
|
rs2118329441
|
|
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs)
|
rs1588602354
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000264.5(PTCH1):c.1342_1345del (p.Leu448fs)
|
rs1564051237
|
|
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del)
|
rs1554698774
|
|
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg)
|
rs1841214843
|
|
NM_000264.5(PTCH1):c.1347+10G>C
|
rs370916305
|
|
NM_000264.5(PTCH1):c.1347+12T>C
|
rs2118327578
|
|
NM_000264.5(PTCH1):c.1347+14C>T
|
|
|
NM_000264.5(PTCH1):c.1347+1G>A
|
|
|
NM_000264.5(PTCH1):c.1347+20T>C
|
|
|
NM_000264.5(PTCH1):c.1347+2T>C
|
rs1841214135
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1347+6G>C
|
|
|
NM_000264.5(PTCH1):c.1347+6G>T
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1347+9C>G
|
rs775905392
|
|
NM_000264.5(PTCH1):c.1348-13G>A
|
rs2118313377
|
|
NM_000264.5(PTCH1):c.1348-13G>T
|
rs2118313377
|
|
NM_000264.5(PTCH1):c.1348-14_1370del
|
rs1554698613
|
|
NM_000264.5(PTCH1):c.1348-16A>G
|
|
|
NM_000264.5(PTCH1):c.1348-17C>G
|
rs2118313541
|
|
NM_000264.5(PTCH1):c.1348-17del
|
|
|
NM_000264.5(PTCH1):c.1348-19C>T
|
|
|
NM_000264.5(PTCH1):c.1348-1G>A
|
rs1841170844
|
|
NM_000264.5(PTCH1):c.1348-2A>G
|
rs1064793978
|
|
NM_000264.5(PTCH1):c.1348-8G>T
|
rs2118313205
|
|
NM_000264.5(PTCH1):c.1350C>A (p.Leu450=)
|
rs369109033
|
|
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=)
|
rs369109033
|
|
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
|
|
|
NM_000264.5(PTCH1):c.1353_1356dup (p.Ala453fs)
|
rs1564050405
|
|
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys)
|
rs1255345516
|
|
NM_000264.5(PTCH1):c.1355dup (p.Tyr452Ter)
|
|
|
NM_000264.5(PTCH1):c.1356T>A (p.Tyr452Ter)
|
|
|
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)
|
rs2118311917
|
|
NM_000264.5(PTCH1):c.1359C>G (p.Ala453=)
|
rs1564050395
|
|
NM_000264.5(PTCH1):c.1361_1364del (p.Ala453_Cys454insTer)
|
rs2118311257
|
|
NM_000264.5(PTCH1):c.1364dup (p.Thr456fs)
|
rs1588600929
|
|
NM_000264.5(PTCH1):c.1365A>C (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=)
|
rs746805188
|
|
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro)
|
rs1841168008
|
|
NM_000264.5(PTCH1):c.1368C>T (p.Thr456=)
|
rs2118310809
|
|
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
|
|
|
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg)
|
rs2118310654
|
|
NM_000264.5(PTCH1):c.1372C>T (p.Leu458=)
|
|
|
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
|
|
|
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1377C>A (p.Arg459=)
|
|
|
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=)
|
|
|
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg)
|
rs1841166322
|
|
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)
|
rs1131690974
|
|
NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)
|
|
|
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser)
|
rs1588600865
|
|
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
|
|
|
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
|
|
|
NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)
|
|
|
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
|
|
|
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
|
|
|
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
|
|
|
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met)
|
rs1438523462
|
|
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg)
|
rs1564050210
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
|
|
|
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1416_1419del (p.Gly473fs)
|
rs1564050178
|
|
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp)
|
rs1841159429
|
|
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del)
|
rs1554698582
|
|
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=)
|
rs774841100
|
|
NM_000264.5(PTCH1):c.1419_1429del (p.Val474fs)
|
rs2118306407
|
|
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=)
|
|
|
NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)
|
|
|
NM_000264.5(PTCH1):c.1428G>T (p.Leu476=)
|
|
|
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
|
|
|
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
|
|
|
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=)
|
rs1298358252
|
|
NM_000264.5(PTCH1):c.1435del (p.Leu479fs)
|
|
|
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=)
|
rs1588600596
|
|
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
|
|
|
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
|
|
|
NM_000264.5(PTCH1):c.1449A>G (p.Ala483=)
|
|
|
NM_000264.5(PTCH1):c.1450G>A (p.Gly484Arg)
|
rs1841155526
|
|
NM_000264.5(PTCH1):c.1452A>G (p.Gly484=)
|
|
|
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=)
|
rs2118305061
|
|
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=)
|
rs1588600570
|
|
NM_000264.5(PTCH1):c.1459_1499del (p.Leu487fs)
|
|
|
NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg)
|
rs2118304794
|
|
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala)
|
rs2118304226
|
|
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met)
|
rs768183391
|
|
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg)
|
rs2118303660
|
|
NM_000264.5(PTCH1):c.1476A>C (p.Gly492=)
|
rs1057515720
|
|
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=)
|
rs1057515720
|
|
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala)
|
rs1057515719
|
|
NM_000264.5(PTCH1):c.1480dup (p.Ser494fs)
|
rs2118303436
|
|
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
|
|
|
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000264.5(PTCH1):c.1482C>G (p.Ser494=)
|
|
|
NM_000264.5(PTCH1):c.1482del (p.Phe495fs)
|
|
|
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
|
|
|
NM_000264.5(PTCH1):c.1485T>C (p.Phe495=)
|
|
|
NM_000264.5(PTCH1):c.1485del (p.Phe495fs)
|
rs1554698531
|
|
NM_000264.5(PTCH1):c.1485dup (p.Asn496Ter)
|
|
|
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile)
|
rs2118303008
|
|
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)
|
rs1060504538
|
|
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr)
|
rs1841150573
|
|
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys)
|
rs1298115628
|
|
NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)
|
|
|
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)
|
rs863225054
|
|
NM_000264.5(PTCH1):c.1503+16T>C
|
|
|
NM_000264.5(PTCH1):c.1503+17T>G
|
|
|
NM_000264.5(PTCH1):c.1503+19A>G
|
|
|
NM_000264.5(PTCH1):c.1503+1G>C
|
rs864622293
|
|
NM_000264.5(PTCH1):c.1503+1G>T
|
rs864622293
|
|
NM_000264.5(PTCH1):c.1503+2T>A
|
|
|
NM_000264.5(PTCH1):c.1503+2T>C
|
rs2118302461
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1503+4C>A
|
|
|
NM_000264.5(PTCH1):c.1503+7A>C
|
rs779797845
|
|
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1504-13_1504-11del
|
|
|
NM_000264.5(PTCH1):c.1504-14T>C
|
|
|
NM_000264.5(PTCH1):c.1504-15_1504-14del
|
|
|
NM_000264.5(PTCH1):c.1504-17C>G
|
rs1196072511
|
|
NM_000264.5(PTCH1):c.1504-1G>C
|
rs1057518400
|
|
NM_000264.5(PTCH1):c.1504-3T>C
|
rs1588598721
|
|
NM_000264.5(PTCH1):c.1504-4G>A
|
rs1588598729
|
|
NM_000264.5(PTCH1):c.1504-4G>C
|
|
|
NM_000264.5(PTCH1):c.1504-5T>C
|
|
|
NM_000264.5(PTCH1):c.1504-8_1504-7inv
|
|
|
NM_000264.5(PTCH1):c.1504-8del
|
rs2118287389
|
|
NM_000264.5(PTCH1):c.1504-9T>C
|
|
|
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp)
|
rs1841078928
|
|
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln)
|
rs1588598694
|
|
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
|
|
|
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
|
|
|
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=)
|
rs1374700325
|
|
NM_000264.5(PTCH1):c.1520C>T (p.Ala507Val)
|
|
|
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=)
|
rs778837458
|
|
NM_000264.5(PTCH1):c.1524TGGTGT[1] (p.509GV[1])
|
rs1841077120
|
|
NM_000264.5(PTCH1):c.1525G>C (p.Gly509Arg)
|
rs2118285458
|
|
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)
|
rs1060502268
|
|
NM_000264.5(PTCH1):c.1526G>T (p.Gly509Val)
|
rs1060502268
|
|
NM_000264.5(PTCH1):c.1527T>C (p.Gly509=)
|
rs2118285107
|
|
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg)
|
rs1588598613
|
|
NM_000264.5(PTCH1):c.1533T>C (p.Gly511=)
|
rs2118284366
|
|
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn)
|
rs1588598595
|
|
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val)
|
rs1564048907
|
|
NM_000264.5(PTCH1):c.1538ATG[1] (p.Asp514del)
|
rs2118283647
|
|
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
|
|
|
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile)
|
rs2118283531
|
|
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.1550T>C (p.Leu517Pro)
|
|
|
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)
|
rs1841075494
|
|
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr)
|
rs1554698275
|
|
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.1566C>G (p.Phe522Leu)
|
rs2118281892
|
|
NM_000264.5(PTCH1):c.1566C>T (p.Phe522=)
|
rs2118281892
|
|
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.1571A>C (p.Glu524Ala)
|
rs2118281472
|
|
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
|
|
|
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu)
|
rs1841074166
|
|
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)
|
rs1554698260
|
|
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser)
|
rs1841073512
|
|
NM_000264.5(PTCH1):c.1583dup (p.Asn528fs)
|
rs1554698258
|
|
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.1589G>A (p.Arg530Lys)
|
rs1841073027
|
|
NM_000264.5(PTCH1):c.1591_1601del (p.Ile531fs)
|
rs863225055
|
|
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr)
|
rs1227526379
|
|
NM_000264.5(PTCH1):c.1596T>A (p.Pro532=)
|
rs1588598399
|
|
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys)
|
rs1323512738
|
|
NM_000264.5(PTCH1):c.1602+12A>G
|
|
|
NM_000264.5(PTCH1):c.1602+13C>G
|
|
|
NM_000264.5(PTCH1):c.1602+14A>G
|
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1602+16A>C
|
|
|
NM_000264.5(PTCH1):c.1602+16A>G
|
rs1841069539
|
|
NM_000264.5(PTCH1):c.1602+19A>T
|
|
|
NM_000264.5(PTCH1):c.1602+19_1602+20del
|
|
|
NM_000264.5(PTCH1):c.1602+1G>A
|
rs1060502277
|
|
NM_000264.5(PTCH1):c.1602+1G>T
|
rs1060502277
|
|
NM_000264.5(PTCH1):c.1602+20_1602+22del
|
|
|
NM_000264.5(PTCH1):c.1602+2T>C
|
|
|
NM_000264.5(PTCH1):c.1602+3A>T
|
|
|
NM_000264.5(PTCH1):c.1602+5T>C
|
|
|
NM_000264.5(PTCH1):c.1602+7C>G
|
rs920792441
|
|
NM_000264.5(PTCH1):c.1602+7C>T
|
rs920792441
|
|
NM_000264.5(PTCH1):c.1602+8A>G
|
rs1554698205
|
|
NM_000264.5(PTCH1):c.1602+9A>G
|
|
|
NM_000264.5(PTCH1):c.1603-11T>G
|
|
|
NM_000264.5(PTCH1):c.1603-13T>C
|
|
|
NM_000264.5(PTCH1):c.1603-15T>C
|
|
|
NM_000264.5(PTCH1):c.1603-15T>G
|
|
|
NM_000264.5(PTCH1):c.1603-16_1603-15del
|
rs2118263773
|
|
NM_000264.5(PTCH1):c.1603-19T>G
|
|
|
NM_000264.5(PTCH1):c.1603-1G>A
|
rs2118262541
|
|
NM_000264.5(PTCH1):c.1603-20C>T
|
|
|
NM_000264.5(PTCH1):c.1603-2A>G
|
rs1064793921
|
|
NM_000264.5(PTCH1):c.1603-4C>T
|
|
|
NM_000264.5(PTCH1):c.1603-6T>C
|
rs2118262896
|
|
NM_000264.5(PTCH1):c.1603-7T>C
|
|
|
NM_000264.5(PTCH1):c.1603-8A>G
|
|
|
NM_000264.5(PTCH1):c.1603-8A>T
|
rs2118263115
|
|
NM_000264.5(PTCH1):c.1603-8del
|
rs2118263201
|
|
NM_000264.5(PTCH1):c.1603-9dup
|
rs759445912
|
|
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
|
|
|
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile)
|
rs2118261336
|
|
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=)
|
rs780344685
|
|
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg)
|
rs1347882326
|
|
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
|
|
|
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln)
|
rs2118260596
|
|
NM_000264.5(PTCH1):c.1615del (p.Glu539fs)
|
rs878853847
|
|
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp)
|
rs1221665069
|
|
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
|
|
|
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
|
|
|
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
|
|
|
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=)
|
rs1841017295
|
|
NM_000264.5(PTCH1):c.1623G>C (p.Leu541=)
|
|
|
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
|
|
|
NM_000264.5(PTCH1):c.1624A>T (p.Lys542Ter)
|
|
|
NM_000264.5(PTCH1):c.1625dup (p.Arg543fs)
|
rs1588596702
|
|
NM_000264.5(PTCH1):c.1626G>A (p.Lys542=)
|
|
|
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)
|
rs137903539
|
|
NM_000264.5(PTCH1):c.1629C>G (p.Arg543=)
|
rs557468315
|
|
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala)
|
rs1841014826
|
|
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile)
|
rs1841014632
|
|
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
|
|
|
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
|
|
|
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
|
|
|
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His)
|
rs1843889465
|
|
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
|
|
|
NM_000264.5(PTCH1):c.1647C>T (p.Ala549=)
|
rs2118256501
|
|
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys)
|
rs1205081001
|
|
NM_000264.5(PTCH1):c.1651dup (p.Thr551fs)
|
rs1554697928
|
|
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
|
|
|
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)
|
|
|
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala)
|
rs1841012358
|
|
NM_000264.5(PTCH1):c.1654_1655dup (p.Ile553fs)
|
rs2118255495
|
|
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
|
|
|
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
|
|
|
NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr)
|
rs148367880
|
|
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)
|
rs1318405179
|
|
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
|
|
|
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=)
|
rs1564046825
|
|
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr)
|
rs2118253278
|
|
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
|
|
|
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
|
|
|
NM_000264.5(PTCH1):c.1677C>T (p.Phe559=)
|
rs2118252807
|
|
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
|
|
|
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser)
|
rs1564046809
|
|
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.1682T>C (p.Met561Thr)
|
|
|
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile)
|
rs1841007617
|
|
NM_000264.5(PTCH1):c.1686C>A (p.Ala562=)
|
|
|
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.1689G>T (p.Ala563=)
|
|
|
NM_000264.5(PTCH1):c.168C>T (p.Cys56=)
|
rs2118906879
|
|
NM_000264.5(PTCH1):c.1690T>C (p.Leu564=)
|
|
|
NM_000264.5(PTCH1):c.1691T>A (p.Leu564Ter)
|
rs2118251139
|
|
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val)
|
rs778170244
|
|
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met)
|
rs1564046738
|
|
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.169G>A (p.Asp57Asn)
|
|
|
NM_000264.5(PTCH1):c.1704del (p.Ala569fs)
|
rs776154605
|
|
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr)
|
rs753240797
|
|
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp)
|
rs766973191
|
|
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
|
|
|
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
|
|
|
NM_000264.5(PTCH1):c.1707T>C (p.Ala569=)
|
rs2118249592
|
|
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val)
|
rs1841004985
|
|
NM_000264.5(PTCH1):c.1709_1721del (p.Leu570fs)
|
rs1554697839
|
|
NM_000264.5(PTCH1):c.1710G>A (p.Leu570=)
|
|
|
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=)
|
rs374924167
|
|
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=)
|
rs762575636
|
|
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
|
|
|
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser)
|
rs1588596119
|
|
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.1719C>G (p.Phe573Leu)
|
|
|
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu)
|
rs1485701312
|
|
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>A (p.Ser574=)
|
|
|
NM_000264.5(PTCH1):c.1726C>T (p.Gln576Ter)
|
|
|
NM_000264.5(PTCH1):c.1728+12G>C
|
rs2118247350
|
|
NM_000264.5(PTCH1):c.1728+14G>A
|
|
|
NM_000264.5(PTCH1):c.1728+15A>T
|
rs771991404
|
|
NM_000264.5(PTCH1):c.1728+19A>G
|
rs774363073
|
|
NM_000264.5(PTCH1):c.1728+19del
|
rs2118246919
|
|
NM_000264.5(PTCH1):c.1728+3G>A
|
|
|
NM_000264.5(PTCH1):c.1728+3G>C
|
rs1588596061
|
|
NM_000264.5(PTCH1):c.1728+4A>G
|
|
|
NM_000264.5(PTCH1):c.1728+6C>A
|
rs761805788
|
|
NM_000264.5(PTCH1):c.1728+8T>G
|
rs864622243
|
|
NM_000264.5(PTCH1):c.1728+9C>T
|
rs1060504541
|
|
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His)
|
rs1841001917
|
|
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr)
|
rs1249138008
|
|
NM_000264.5(PTCH1):c.173C>G (p.Ala58Gly)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.173C>T (p.Ala58Val)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
|
|
|
NM_000264.5(PTCH1):c.183T>C (p.Ala61=)
|
rs2118906517
|
|
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val)
|
rs1843886204
|
|
NM_000264.5(PTCH1):c.186G>A (p.Leu62=)
|
|
|
NM_000264.5(PTCH1):c.187G>A (p.Glu63Lys)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.189G>C (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
|
|
|
NM_000264.5(PTCH1):c.192G>A (p.Gln64=)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>C (p.Gln64His)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
|
|
|
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr)
|
rs1843885007
|
|
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr)
|
rs1025299062
|
|
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
|
|
|
NM_000264.5(PTCH1):c.198C>T (p.Ser66=)
|
rs1355794957
|
|
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr)
|
rs1843883983
|
|
NM_000264.5(PTCH1):c.201+10A>G
|
|
|
NM_000264.5(PTCH1):c.201+11G>C
|
|
|
NM_000264.5(PTCH1):c.201+12A>T
|
|
|
NM_000264.5(PTCH1):c.201+13C>T
|
|
|
NM_000264.5(PTCH1):c.201+14T>A
|
|
|
NM_000264.5(PTCH1):c.201+14TC[2]
|
rs758866712
|
|
NM_000264.5(PTCH1):c.201+15C>G
|
|
|
NM_000264.5(PTCH1):c.201+15C>T
|
|
|
NM_000264.5(PTCH1):c.201+16T>A
|
|
|
NM_000264.5(PTCH1):c.201+16_201+19del
|
|
|
NM_000264.5(PTCH1):c.201+17C>G
|
rs750650083
|
|
NM_000264.5(PTCH1):c.201+17C>T
|
rs750650083
|
|
NM_000264.5(PTCH1):c.201+18T>C
|
rs2118905834
|
|
NM_000264.5(PTCH1):c.201+19C>A
|
rs765308113
|
|
NM_000264.5(PTCH1):c.201+1G>T
|
|
|
NM_000264.5(PTCH1):c.201+20C>T
|
|
|
NM_000264.5(PTCH1):c.201+2_201+3dup
|
rs2118906154
|
|
NM_000264.5(PTCH1):c.201+3G>A
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+3G>T
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+5A>G
|
rs1843883183
|
|
NM_000264.5(PTCH1):c.201+8del
|
rs2118906058
|
|
NM_000264.5(PTCH1):c.201+9C>T
|
rs751905115
|
|
NM_000264.5(PTCH1):c.202-1G>C
|
rs2118881561
|
|
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.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
|
|
|
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
|
|
|
NM_000264.5(PTCH1):c.216C>G (p.Gly72=)
|
rs1383963652
|
|
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
|
|
|
NM_000264.5(PTCH1):c.222A>G (p.Lys74=)
|
|
|
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
|
|
|
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
|
|
|
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr)
|
rs997156828
|
|
NM_000264.5(PTCH1):c.228G>C (p.Pro76=)
|
|
|
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
|
|
|
NM_000264.5(PTCH1):c.229C>T (p.Leu77=)
|
|
|
NM_000264.5(PTCH1):c.232_233del (p.Trp78fs)
|
|
|
NM_000264.5(PTCH1):c.233G>A (p.Trp78Ter)
|
rs1843665508
|
|
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met)
|
rs1564088372
|
|
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
|
|
|
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
|
|
|
NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
|
|
|
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
|
|
|
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr)
|
rs2118880380
|
|
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly)
|
rs1843664597
|
|
NM_000264.5(PTCH1):c.243G>A (p.Ala81=)
|
rs1444883189
|
|
NM_000264.5(PTCH1):c.244delinsCTTCTGAG (p.Lys82fs)
|
|
|
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg)
|
rs1587693690
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
|
|
|
NM_000264.5(PTCH1):c.250C>T (p.Gln84Ter)
|
|
|
NM_000264.5(PTCH1):c.250_251del (p.Gln84fs)
|
rs1843663751
|
|
NM_000264.5(PTCH1):c.251_258del (p.Gln84fs)
|
rs1587693623
|
|
NM_000264.5(PTCH1):c.252G>A (p.Gln84=)
|
rs587780698
|
|
NM_000264.5(PTCH1):c.253A>C (p.Arg85=)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.254_255del (p.Arg85fs)
|
rs1554708771
|
|
NM_000264.5(PTCH1):c.2561-10C>A
|
rs763935951
|
|
NM_000264.5(PTCH1):c.2561-15A>T
|
|
|
NM_000264.5(PTCH1):c.2561-16C>A
|
rs1588551982
|
|
NM_000264.5(PTCH1):c.2561-17T>C
|
|
|
NM_000264.5(PTCH1):c.2561-1G>A
|
rs1131691700
|
|
NM_000264.5(PTCH1):c.2561-20C>G
|
|
|
NM_000264.5(PTCH1):c.2561-2A>G
|
rs878853852
|
|
NM_000264.5(PTCH1):c.2561-2A>T
|
rs878853852
|
|
NM_000264.5(PTCH1):c.2561-8A>G
|
rs2136690155
|
|
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)
|
rs751613059
|
|
NM_000264.5(PTCH1):c.2569del (p.Asp857fs)
|
|
|
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)
|
|
|
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
|
|
|
NM_000264.5(PTCH1):c.2573del (p.Ala858fs)
|
rs2136689747
|
|
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
|
|
|
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn)
|
rs2136689511
|
|
NM_000264.5(PTCH1):c.2582del (p.Ser861fs)
|
rs2136689543
|
|
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
|
|
|
NM_000264.5(PTCH1):c.2588G>A (p.Trp863Ter)
|
rs1839516520
|
|
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys)
|
rs1277861627
|
|
NM_000264.5(PTCH1):c.258C>A (p.Leu86=)
|
rs1060504533
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
NM_000264.5(PTCH1):c.2590G>T (p.Glu864Ter)
|
rs2136689297
|
|
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=)
|
rs1839515955
|
|
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser)
|
rs1839515437
|
|
NM_000264.5(PTCH1):c.2595C>G (p.Thr865=)
|
|
|
NM_000264.5(PTCH1):c.2595del (p.Ile868fs)
|
rs2136689212
|
|
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.259T>C (p.Leu87=)
|
|
|
NM_000264.5(PTCH1):c.259_260del (p.Leu87fs)
|
rs1554708760
|
|
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del)
|
rs1060502296
|
|
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=)
|
rs568888639
|
|
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val)
|
rs2136689015
|
|
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.260dup (p.Leu87fs)
|
rs2118879524
|
|
NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
|
|
|
NM_000264.5(PTCH1):c.2615A>C (p.Asn872Thr)
|
rs769029578
|
|
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His)
|
rs2136688723
|
|
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys)
|
rs1839512647
|
|
NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter)
|
rs1554692291
|
|
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu)
|
rs2136688658
|
|
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
|
|
|
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=)
|
rs1389183150
|
|
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>G (p.Asp878Glu)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2637T>C (p.Asp879=)
|
rs2136688208
|
|
NM_000264.5(PTCH1):c.2639del (p.Gly880fs)
|
rs1554692266
|
|
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
|
|
|
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala)
|
rs1839509519
|
|
NM_000264.5(PTCH1):c.2643C>G (p.Val881=)
|
rs1588551617
|
|
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
|
|
|
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys)
|
rs2136687938
|
|
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
|
|
|
NM_000264.5(PTCH1):c.2659C>T (p.Leu887=)
|
rs2136687780
|
|
NM_000264.5(PTCH1):c.2661G>T (p.Leu887=)
|
rs1487503503
|
|
NM_000264.5(PTCH1):c.2664G>A (p.Val888=)
|
rs2136687667
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
|
|
|
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
|
|
|
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg)
|
rs1843661629
|
|
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
|
|
|
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr)
|
rs1839503876
|
|
NM_000264.5(PTCH1):c.2684dup (p.Pro896fs)
|
rs2136687071
|
|
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu)
|
rs1839503471
|
|
NM_000264.5(PTCH1):c.268C>T (p.Leu90=)
|
rs1587693584
|
|
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
|
|
|
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=)
|
rs1055193050
|
|
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
|
|
|
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met)
|
rs1588551373
|
|
NM_000264.5(PTCH1):c.2698dup (p.Ser900fs)
|
|
|
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
|
|
|
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)
|
rs1064796618
|
|
NM_000264.5(PTCH1):c.2702_2703+4del
|
|
|
NM_000264.5(PTCH1):c.2703+10C>G
|
rs1390398176
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
NM_000264.5(PTCH1):c.2703+1G>A
|
|
|
NM_000264.5(PTCH1):c.2703+20C>T
|
|
|
NM_000264.5(PTCH1):c.2703+4C>T
|
rs1839501465
|
|
NM_000264.5(PTCH1):c.2703+6C>G
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2703+6C>T
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2704-12C>T
|
|
|
NM_000264.5(PTCH1):c.2704-1G>A
|
|
|
NM_000264.5(PTCH1):c.2704-23CT[3]
|
rs2136673668
|
|
NM_000264.5(PTCH1):c.2704-4G>T
|
rs864622248
|
|
NM_000264.5(PTCH1):c.2704-5del
|
rs2136673527
|
|
NM_000264.5(PTCH1):c.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.2708C>G (p.Thr903Ser)
|
rs1564021882
|
|
NM_000264.5(PTCH1):c.2709T>C (p.Thr903=)
|
|
|
NM_000264.5(PTCH1):c.270_304del (p.Tyr93fs)
|
rs864622583
|
|
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln)
|
rs2136673392
|
|
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
|
|
|
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys)
|
rs864622088
|
|
NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter)
|
rs864622088
|
|
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys)
|
rs1588545099
|
|
NM_000264.5(PTCH1):c.2721G>C (p.Leu907=)
|
rs2136673149
|
|
NM_000264.5(PTCH1):c.2723_2724del (p.Val908fs)
|
rs1839298779
|
|
NM_000264.5(PTCH1):c.2724G>T (p.Val908=)
|
rs1564021832
|
|
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2727T>C (p.Asp909=)
|
rs1588545040
|
|
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
|
|
|
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
|
|
|
NM_000264.5(PTCH1):c.272_278dup (p.Tyr93Ter)
|
rs2118878946
|
|
NM_000264.5(PTCH1):c.2730A>C (p.Ala910=)
|
|
|
NM_000264.5(PTCH1):c.2730A>G (p.Ala910=)
|
rs1588545017
|
|
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val)
|
rs1839297206
|
|
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu)
|
rs1839296987
|
|
NM_000264.5(PTCH1):c.2736_2742dup (p.Asn915delinsHisHisTer)
|
rs2136672811
|
|
NM_000264.5(PTCH1):c.2737_2741dup (p.Asn915fs)
|
|
|
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu)
|
rs1588544970
|
|
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.2757C>T (p.Phe919=)
|
rs1588544920
|
|
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
|
|
|
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
|
|
|
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=)
|
rs1588544909
|
|
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
|
|
|
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met)
|
rs1564021738
|
|
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser)
|
rs2136672306
|
|
NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter)
|
rs1554691698
|
|
NM_000264.5(PTCH1):c.2766C>T (p.Tyr922=)
|
rs1554691698
|
|
NM_000264.5(PTCH1):c.2769G>C (p.Leu923=)
|
rs2136672215
|
|
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
|
|
|
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.2773_2776delinsTAC (p.Ala925fs)
|
|
|
NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser)
|
rs2136672063
|
|
NM_000264.5(PTCH1):c.2778G>A (p.Trp926Ter)
|
|
|
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
|
|
|
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly)
|
rs786204224
|
|
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys)
|
rs786204224
|
|
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr)
|
rs1554691690
|
|
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys)
|
rs1564088256
|
|
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter)
|
rs1587693544
|
|
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
|
|
|
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
|
rs1839290937
|
|
NM_000264.5(PTCH1):c.2796C>A (p.Val932=)
|
rs747931365
|
|
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
|
|
|
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val)
|
rs768558478
|
|
NM_000264.5(PTCH1):c.2799del (p.Tyr934fs)
|
rs863224484
|
|
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)
|
rs1554708753
|
|
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe)
|
rs1209943415
|
|
NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)
|
rs1356231878
|
|
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro)
|
rs1554691676
|
|
NM_000264.5(PTCH1):c.2805T>C (p.Ala935=)
|
rs1588544550
|
|
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.2810C>T (p.Ser937Phe)
|
rs1839284772
|
|
NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)
|
|
|
NM_000264.5(PTCH1):c.2811C>T (p.Ser937=)
|
rs2136671267
|
|
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu)
|
rs778810550
|
|
NM_000264.5(PTCH1):c.2812C>T (p.Gln938Ter)
|
|
|
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His)
|
rs587780534
|
|
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
|
|
|
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp)
|
rs1564021422
|
|
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser)
|
rs749406453
|
|
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met)
|
rs1839283096
|
|
NM_000264.5(PTCH1):c.2823C>T (p.Ile941=)
|
rs1839283096
|
|
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly)
|
rs756465236
|
|
NM_000264.5(PTCH1):c.2824del (p.Arg942fs)
|
|
|
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>T (p.Pro943Ser)
|
|
|
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=)
|
rs150739122
|
|
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr)
|
rs1588544426
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
|
|
|
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)
|
rs1587693508
|
|
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
|
|
|
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs)
|
rs863224485
|
|
NM_000264.5(PTCH1):c.2844G>A (p.Trp948Ter)
|
rs2136670613
|
|
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
|
|
|
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr)
|
rs1588544328
|
|
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
|
|
|
NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr)
|
|
|
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His)
|
rs2136670259
|
|
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile)
|
rs761501958
|
|
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
|
|
|
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu)
|
rs532713234
|
|
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg)
|
rs1376533047
|
|
NM_000264.5(PTCH1):c.2870del (p.Pro957fs)
|
|
|
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile)
|
rs776378611
|
|
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
|
|
|
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=)
|
rs1839273856
|
|
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu)
|
rs2136669790
|
|
NM_000264.5(PTCH1):c.2887+14T>C
|
|
|
NM_000264.5(PTCH1):c.2887+16T>C
|
|
|
NM_000264.5(PTCH1):c.2887+18G>C
|
|
|
NM_000264.5(PTCH1):c.2887+1G>A
|
|
|
NM_000264.5(PTCH1):c.2887+4A>G
|
rs1588544193
|
|
NM_000264.5(PTCH1):c.2887+4_2887+7del
|
rs2136669708
|
|
NM_000264.5(PTCH1):c.2887+7A>G
|
rs2136669701
|
|
NM_000264.5(PTCH1):c.2888-10C>T
|
rs2136663073
|
|
NM_000264.5(PTCH1):c.2888-12T>G
|
|
|
NM_000264.5(PTCH1):c.2888-13C>T
|
|
|
NM_000264.5(PTCH1):c.2888-15C>G
|
rs1372660225
|
|
NM_000264.5(PTCH1):c.2888-15C>T
|
rs1372660225
|
|
NM_000264.5(PTCH1):c.2888-16G>T
|
rs776279907
|
|
NM_000264.5(PTCH1):c.2888-17dup
|
rs2136663140
|
|
NM_000264.5(PTCH1):c.2888-18G>A
|
|
|
NM_000264.5(PTCH1):c.2888-4C>T
|
rs1411872086
|
|
NM_000264.5(PTCH1):c.2888-8C>T
|
rs567994836
|
|
NM_000264.5(PTCH1):c.2888-9T>C
|
|
|
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met)
|
rs878853853
|
|
NM_000264.5(PTCH1):c.288A>G (p.Lys96=)
|
rs1843659466
|
|
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2892G>T (p.Pro964=)
|
|
|
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
|
|
|
NM_000264.5(PTCH1):c.289_290del (p.Asn97fs)
|
rs1554708751
|
|
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
|
|
|
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=)
|
rs1554691433
|
|
NM_000264.5(PTCH1):c.2904C>T (p.Pro968=)
|
|
|
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met)
|
rs748318700
|
|
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.290_291insG (p.Asn97fs)
|
|
|
NM_000264.5(PTCH1):c.290_291insT (p.Cys98fs)
|
|
|
NM_000264.5(PTCH1):c.290del (p.Asn97fs)
|
rs1554708751
|
|
NM_000264.5(PTCH1):c.290dup (p.Asn97fs)
|
rs1554708751
|
|
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro)
|
rs2136662633
|
|
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
|
|
|
NM_000264.5(PTCH1):c.2916C>G (p.Ala972=)
|
rs1313745659
|
|
NM_000264.5(PTCH1):c.2917C>T (p.Gln973Ter)
|
|
|
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His)
|
rs1564019804
|
|
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
|
|
|
NM_000264.5(PTCH1):c.2922C>T (p.Phe974=)
|
rs747385350
|
|
NM_000264.5(PTCH1):c.2924del (p.Pro975fs)
|
|
|
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.292T>G (p.Cys98Gly)
|
|
|
NM_000264.5(PTCH1):c.2931_2932insGTAGA (p.Leu978fs)
|
rs1554691423
|
|
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.2936A>T (p.Asn979Ile)
|
|
|
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
|
|
|
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
|
|
|
NM_000264.5(PTCH1):c.2944C>A (p.Arg982=)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
|
|
|
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=)
|
rs1204950098
|
|
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser)
|
rs1839130173
|
|
NM_000264.5(PTCH1):c.2952C>T (p.Thr984=)
|
|
|
NM_000264.5(PTCH1):c.2954C>G (p.Ser985Ter)
|
rs760297274
|
|
NM_000264.5(PTCH1):c.2954_2965del (p.Ser985_Glu989delinsTer)
|
|
|
NM_000264.5(PTCH1):c.2955A>G (p.Ser985=)
|
|
|
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=)
|
rs2136662098
|
|
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
|
|
|
NM_000264.5(PTCH1):c.2964G>A (p.Val988=)
|
|
|
NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter)
|
rs1472299295
|
|
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.296del (p.Gly99fs)
|
rs1564088181
|
|
NM_000264.5(PTCH1):c.2970A>T (p.Ala990=)
|
rs112405848
|
|
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val)
|
rs1189382722
|
|
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
|
|
|
NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)
|
rs1060502278
|
|
NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)
|
|
|
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg)
|
rs2136661892
|
|
NM_000264.5(PTCH1):c.297C>G (p.Gly99=)
|
rs772407797
|
|
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)
|
rs772407797
|
|
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile)
|
rs1588540545
|
|
NM_000264.5(PTCH1):c.2982A>T (p.Val994=)
|
rs1588540533
|
|
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys)
|
rs1839126241
|
|
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn)
|
rs2136661772
|
|
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr)
|
rs1839124943
|
|
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
|
|
|
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys)
|
rs2136661651
|
|
NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=)
|
rs2136661651
|
|
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
|
|
|
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys)
|
rs1839124423
|
|
NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)
|
rs1060502298
|
|
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=)
|
rs1060502298
|
|
NM_000264.5(PTCH1):c.3009C>T (p.Ser1003=)
|
|
|
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)
|
rs864622620
|
|
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=)
|
|
|
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg)
|
rs1564019538
|
|
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu)
|
rs1839122259
|
|
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
|
|
|
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro)
|
rs1839121774
|
|
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=)
|
rs863224350
|
|
NM_000264.5(PTCH1):c.3018G>C (p.Leu1006=)
|
rs863224350
|
|
NM_000264.5(PTCH1):c.3021_3022del (p.Ser1008fs)
|
|
|
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)
|
rs747234651
|
|
NM_000264.5(PTCH1):c.3027_3030del (p.Ser1008_Tyr1009insTer)
|
rs2136661234
|
|
NM_000264.5(PTCH1):c.3030del (p.Asn1011fs)
|
rs2136661215
|
|
NM_000264.5(PTCH1):c.3032del (p.Asn1011fs)
|
|
|
NM_000264.5(PTCH1):c.3037dup (p.Tyr1013fs)
|
|
|
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
|
|
|
NM_000264.5(PTCH1):c.3039C>A (p.Tyr1013Ter)
|
rs779388970
|
|
NM_000264.5(PTCH1):c.303C>T (p.Phe101=)
|
rs1425771551
|
|
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala)
|
rs1588540255
|
|
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.3042del (p.Phe1015fs)
|
rs886039540
|
|
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.3051_3053del (p.Phe1017_Trp1018delinsLeu)
|
|
|
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
|
|
|
NM_000264.5(PTCH1):c.3053G>A (p.Trp1018Ter)
|
rs2136660954
|
|
NM_000264.5(PTCH1):c.3054G>A (p.Trp1018Ter)
|
rs1839115028
|
|
NM_000264.5(PTCH1):c.3055G>T (p.Glu1019Ter)
|
rs2136660921
|
|
NM_000264.5(PTCH1):c.3058C>T (p.Gln1020Ter)
|
rs1839114207
|
|
NM_000264.5(PTCH1):c.3059_3062dup (p.Tyr1021Ter)
|
rs1839113498
|
|
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del)
|
rs2136660602
|
|
NM_000264.5(PTCH1):c.3059_3088del (p.Gln1020_Leu1029del)
|
rs1839107392
|
|
NM_000264.5(PTCH1):c.3063C>T (p.Tyr1021=)
|
rs777191105
|
|
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys)
|
rs752317944
|
|
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala)
|
rs1588540060
|
|
NM_000264.5(PTCH1):c.3069C>A (p.Gly1023=)
|
rs767289081
|
|
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=)
|
rs767289081
|
|
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=)
|
rs1588539992
|
|
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys)
|
rs1839109856
|
|
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg)
|
rs763031827
|
|
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln)
|
rs2136660617
|
|
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
|
|
|
NM_000264.5(PTCH1):c.3085C>T (p.Leu1029=)
|
rs776739985
|
|
NM_000264.5(PTCH1):c.3087G>A (p.Leu1029=)
|
rs2136660541
|
|
NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA (p.Leu1030fs)
|
rs1839104595
|
|
NM_000264.5(PTCH1):c.3088_3099delinsTTGGTGTT (p.Phe1031fs)
|
rs1839104595
|
|
NM_000264.5(PTCH1):c.3096C>T (p.Ile1032=)
|
rs1839105109
|
|
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu)
|
rs1839103824
|
|
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=)
|
rs2136660293
|
|
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
|
|
|
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=)
|
rs1009386754
|
|
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg)
|
rs2136660230
|
|
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
|
|
|
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=)
|
rs1303636474
|
|
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile)
|
rs2136660189
|
|
NM_000264.5(PTCH1):c.3123C>A (p.Leu1041=)
|
rs1554691356
|
|
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=)
|
rs1554691356
|
|
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala)
|
rs1839101189
|
|
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
|
|
|
NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs)
|
rs1554691354
|
|
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=)
|
|
|
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
|
|
|
NM_000264.5(PTCH1):c.3129dup (p.Ala1044fs)
|
|
|
NM_000264.5(PTCH1):c.312G>A (p.Val104=)
|
|
|
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)
|
rs138458710
|
|
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
|
|
|
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile)
|
rs1564019097
|
|
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys)
|
rs1839099591
|
|
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
|
|
|
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile)
|
rs1053698119
|
|
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer)
|
rs1131690980
|
|
NM_000264.5(PTCH1):c.3139del (p.Leu1047fs)
|
rs2136659959
|
|
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys)
|
rs1588539644
|
|
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs)
|
rs1588539623
|
|
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly)
|
rs1564019039
|
|
NM_000264.5(PTCH1):c.3151del (p.Trp1051fs)
|
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
NM_000264.5(PTCH1):c.3153G>A (p.Trp1051Ter)
|
|
|
NM_000264.5(PTCH1):c.315C>G (p.Gly105=)
|
rs1060504542
|
|
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg)
|
rs2136659721
|
|
NM_000264.5(PTCH1):c.3160_3161insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1054delinsAlaLeuSerSerCysTer)
|
|
|
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
|
|
|
NM_000264.5(PTCH1):c.3162G>A (p.Gly1054=)
|
rs1588539563
|
|
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=)
|
rs1588539563
|
|
NM_000264.5(PTCH1):c.3168+11dup
|
|
|
NM_000264.5(PTCH1):c.3168+12A>T
|
|
|
NM_000264.5(PTCH1):c.3168+13T>C
|
|
|
NM_000264.5(PTCH1):c.3168+19G>A
|
|
|
NM_000264.5(PTCH1):c.3168+1G>T
|
rs2136659660
|
|
NM_000264.5(PTCH1):c.3168+20C>T
|
|
|
NM_000264.5(PTCH1):c.3168+2T>C
|
rs786204056
|
|
NM_000264.5(PTCH1):c.3168+5G>A
|
rs1588539525
|
|
NM_000264.5(PTCH1):c.3168+6T>A
|
rs1839094345
|
|
NM_000264.5(PTCH1):c.3169-10C>A
|
|
|
NM_000264.5(PTCH1):c.3169-12G>T
|
|
|
NM_000264.5(PTCH1):c.3169-14G>A
|
rs2136650773
|
|
NM_000264.5(PTCH1):c.3169-15T>C
|
|
|
NM_000264.5(PTCH1):c.3169-16G>A
|
|
|
NM_000264.5(PTCH1):c.3169-17T>C
|
|
|
NM_000264.5(PTCH1):c.3169-18C>G
|
|
|
NM_000264.5(PTCH1):c.3169-18C>T
|
|
|
NM_000264.5(PTCH1):c.3169-19A>G
|
|
|
NM_000264.5(PTCH1):c.3169-1G>A
|
rs1060502285
|
|
NM_000264.5(PTCH1):c.3169-20C>A
|
rs780801234
|
|
NM_000264.5(PTCH1):c.3169-4C>G
|
|
|
NM_000264.5(PTCH1):c.3169-6C>T
|
rs1588536035
|
|
NM_000264.5(PTCH1):c.3169-7G>A
|
rs1588536043
|
|
NM_000264.5(PTCH1):c.3169-7G>C
|
rs1588536043
|
|
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met)
|
rs1838934517
|
|
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=)
|
rs2136650471
|
|
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
|
|
|
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.3181G>A (p.Ala1061Thr)
|
rs767617256
|
|
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val)
|
rs1409913416
|
|
NM_000264.5(PTCH1):c.3184_3185del (p.Leu1062fs)
|
rs2136650202
|
|
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs)
|
rs2118876177
|
|
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala)
|
rs1838931276
|
|
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=)
|
rs370936145
|
|
NM_000264.5(PTCH1):c.3196G>T (p.Glu1066Ter)
|
rs1838929775
|
|
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.3201G>A (p.Leu1067=)
|
|
|
NM_000264.5(PTCH1):c.3201del (p.Phe1068fs)
|
|
|
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.3205G>A (p.Gly1069Ser)
|
rs2136649648
|
|
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val)
|
rs1588535858
|
|
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val)
|
rs768302786
|
|
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg)
|
rs2136649542
|
|
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
|
|
|
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=)
|
rs2136649380
|
|
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
|
|
|
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3223G>T (p.Gly1075Ter)
|
|
|
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
|
|
|
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=)
|
rs757101018
|
|
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
|
|
|
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro)
|
rs1554691033
|
|
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr)
|
rs2118876529
|
|
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
|
|
|
NM_000264.5(PTCH1):c.3241_3245del (p.Val1081fs)
|
|
|
NM_000264.5(PTCH1):c.3241_3245dup (p.Val1083fs)
|
rs2136648673
|
|
NM_000264.5(PTCH1):c.3243G>A (p.Val1081=)
|
rs763288802
|
|
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His)
|
rs2136648648
|
|
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
|
|
|
NM_000264.5(PTCH1):c.3249G>T (p.Val1083=)
|
|
|
NM_000264.5(PTCH1):c.324_325del (p.Phe109fs)
|
rs2118876450
|
|
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe)
|
rs1838922991
|
|
NM_000264.5(PTCH1):c.3252C>G (p.Val1084=)
|
rs201094264
|
|
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
|
|
|
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=)
|
|
|
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
|
|
|
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val)
|
rs777291938
|
|
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
|
|
|
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>T (p.Ala1088Val)
|
rs1838920838
|
|
NM_000264.5(PTCH1):c.3264T>C (p.Ala1088=)
|
rs1361137530
|
|
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
|
|
|
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.3270T>C (p.Val1090=)
|
|
|
NM_000264.5(PTCH1):c.3273del (p.Gly1091_Ile1092insTer)
|
|
|
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val)
|
rs2136647902
|
|
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
|
|
|
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met)
|
rs1227312736
|
|
NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg)
|
rs2136647822
|
|
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.3281_3282dup (p.Glu1095fs)
|
rs1588535437
|
|
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln)
|
rs1588535427
|
|
NM_000264.5(PTCH1):c.3283G>T (p.Glu1095Ter)
|
|
|
NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs)
|
rs1588535416
|
|
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu)
|
rs745563970
|
|
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
|
|
|
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg)
|
rs1843654942
|
|
NM_000264.5(PTCH1):c.3300T>G (p.Val1100=)
|
|
|
NM_000264.5(PTCH1):c.3304T>C (p.Leu1102=)
|
|
|
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val)
|
rs1554690984
|
|
NM_000264.5(PTCH1):c.3306+11C>A
|
rs1375317234
|
|
NM_000264.5(PTCH1):c.3306+11C>T
|
|
|
NM_000264.5(PTCH1):c.3306+12A>G
|
|
|
NM_000264.5(PTCH1):c.3306+15T>C
|
|
|
NM_000264.5(PTCH1):c.3306+16G>A
|
rs780151010
|
|
NM_000264.5(PTCH1):c.3306+20C>G
|
|
|
NM_000264.5(PTCH1):c.3306+20C>T
|
|
|
NM_000264.5(PTCH1):c.3306+2T>C
|
|
|
NM_000264.5(PTCH1):c.3306+5G>A
|
rs587780701
|
|
NM_000264.5(PTCH1):c.3306+6G>A
|
rs777678813
|
|
NM_000264.5(PTCH1):c.3306+6G>T
|
rs777678813
|
|
NM_000264.5(PTCH1):c.3306+7G>A
|
rs1382563617
|
|
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=)
|
rs1564017035
|
|
NM_000264.5(PTCH1):c.3307-115_3339del
|
rs1838664702
|
|
NM_000264.5(PTCH1):c.3307-12C>T
|
|
|
NM_000264.5(PTCH1):c.3307-13C>T
|
|
|
NM_000264.5(PTCH1):c.3307-17A>G
|
|
|
NM_000264.5(PTCH1):c.3307-18A>G
|
|
|
NM_000264.5(PTCH1):c.3307-1G>A
|
rs2136632449
|
|
NM_000264.5(PTCH1):c.3307-3C>T
|
|
|
NM_000264.5(PTCH1):c.3307-4A>C
|
rs1554690494
|
|
NM_000264.5(PTCH1):c.3307-6G>A
|
|
|
NM_000264.5(PTCH1):c.3307-6G>T
|
|
|
NM_000264.5(PTCH1):c.3307-7T>C
|
rs878853855
|
|
NM_000264.5(PTCH1):c.3307-8T>C
|
|
|
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser)
|
rs1838668785
|
|
NM_000264.5(PTCH1):c.330G>A (p.Gly110=)
|
|
|
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu)
|
rs1554690489
|
|
NM_000264.5(PTCH1):c.3312T>C (p.Phe1104=)
|
|
|
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=)
|
rs942699337
|
|
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr)
|
rs777897973
|
|
NM_000264.5(PTCH1):c.331del (p.Ala111fs)
|
|
|
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=)
|
rs748117539
|
|
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
|
|
|
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg)
|
rs2136632174
|
|
NM_000264.5(PTCH1):c.3333del (p.Asn1112fs)
|
rs2136632164
|
|
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
|
|
|
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
|
|
|
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
|
|
|
NM_000264.5(PTCH1):c.333C>T (p.Ala111=)
|
rs863224351
|
|
NM_000264.5(PTCH1):c.3340A>C (p.Arg1114=)
|
rs587776689
|
|
NM_000264.5(PTCH1):c.3342G>A (p.Arg1114=)
|
|
|
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val)
|
rs779192138
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)
|
|
|
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
|
|
|
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
|
|
|
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
|
|
|
NM_000264.5(PTCH1):c.3354C>G (p.Ala1118=)
|
rs1554690459
|
|
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.3362A>G (p.His1121Arg)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
|
|
|
NM_000264.5(PTCH1):c.3363del (p.His1121fs)
|
rs1838661583
|
|
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.3365T>C (p.Met1122Thr)
|
|
|
NM_000264.5(PTCH1):c.3369T>C (p.Phe1123=)
|
rs2136631715
|
|
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu)
|
|
|
NM_000264.5(PTCH1):c.3372del (p.Val1126fs)
|
|
|
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
|
|
|
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=)
|
rs369760318
|
|
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe)
|
rs147025073
|
|
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=)
|
|
|
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=)
|
rs1032072492
|
|
NM_000264.5(PTCH1):c.3384del (p.Asp1128fs)
|
rs1838658874
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
|
|
|
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=)
|
rs1267662604
|
|
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
|
rs1588528503
|
|
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
|
|
|
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)
|
rs1131690996
|
|
NM_000264.5(PTCH1):c.339G>C (p.Ala113=)
|
rs756224406
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
|
|
|
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg)
|
rs1838655420
|
|
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=)
|
rs769601779
|
|
NM_000264.5(PTCH1):c.340G>A (p.Val114Met)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
|
|
|
NM_000264.5(PTCH1):c.3420G>A (p.Leu1140=)
|
rs748023135
|
|
NM_000264.5(PTCH1):c.3421del (p.Ala1141fs)
|
rs2136631061
|
|
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)
|
rs745948150
|
|
NM_000264.5(PTCH1):c.3426A>T (p.Gly1142=)
|
|
|
NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer)
|
rs1554690411
|
|
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=)
|
rs778900289
|
|
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=)
|
rs2136630962
|
|
NM_000264.5(PTCH1):c.3441_3444del (p.Phe1147fs)
|
rs2136630846
|
|
NM_000264.5(PTCH1):c.3444T>C (p.Ile1148=)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
|
|
|
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
|
|
|
NM_000264.5(PTCH1):c.3449+11G>C
|
|
|
NM_000264.5(PTCH1):c.3449+13G>T
|
|
|
NM_000264.5(PTCH1):c.3449+16C>T
|
rs1838648315
|
|
NM_000264.5(PTCH1):c.3449+17A>C
|
|
|
NM_000264.5(PTCH1):c.3449+1G>A
|
rs863224442
|
|
NM_000264.5(PTCH1):c.3449+3A>G
|
rs201942643
|
|
NM_000264.5(PTCH1):c.3449+6C>T
|
rs2136630772
|
|
NM_000264.5(PTCH1):c.3449+8G>A
|
rs2136630748
|
|
NM_000264.5(PTCH1):c.3449+9G>A
|
rs1554690376
|
|
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
|
|
|
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.3450-13C>G
|
rs2136608603
|
|
NM_000264.5(PTCH1):c.3450-14T>A
|
|
|
NM_000264.5(PTCH1):c.3450-16C>T
|
|
|
NM_000264.5(PTCH1):c.3450-17T>G
|
|
|
NM_000264.5(PTCH1):c.3450-1G>A
|
rs1403732379
|
|
NM_000264.5(PTCH1):c.3450-1G>C
|
rs1403732379
|
|
NM_000264.5(PTCH1):c.3450-20G>C
|
|
|
NM_000264.5(PTCH1):c.3450-2A>C
|
rs863224443
|
|
NM_000264.5(PTCH1):c.3450-2A>G
|
rs863224443
|
|
NM_000264.5(PTCH1):c.3450-2_3483del
|
rs1588519463
|
|
NM_000264.5(PTCH1):c.3450-5C>T
|
rs2136608556
|
|
NM_000264.5(PTCH1):c.3450-8T>C
|
rs1045599342
|
|
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=)
|
rs2136608496
|
|
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3460del (p.Ala1154fs)
|
rs1060502264
|
|
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly)
|
rs1838315753
|
|
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
|
|
|
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
|
|
|
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val)
|
rs1838315273
|
|
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg)
|
rs1838315058
|
|
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=)
|
rs950019214
|
|
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe)
|
rs368636457
|
|
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro)
|
rs1588519508
|
|
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.347T>A (p.Leu116Ter)
|
rs1843652409
|
|
NM_000264.5(PTCH1):c.347T>G (p.Leu116Ter)
|
rs1843652409
|
|
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val)
|
rs202102540
|
|
NM_000264.5(PTCH1):c.3483C>A (p.Ile1161=)
|
rs761421461
|
|
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=)
|
|
|
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe)
|
rs2136608105
|
|
NM_000264.5(PTCH1):c.3486C>T (p.Leu1162=)
|
rs1554689696
|
|
NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg)
|
rs113663584
|
|
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)
|
rs864622120
|
|
NM_000264.5(PTCH1):c.3488del (p.Gly1163fs)
|
rs1564009755
|
|
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=)
|
rs2136607957
|
|
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser)
|
rs1271099813
|
|
NM_000264.5(PTCH1):c.3497_3498del (p.Asn1166fs)
|
rs2136607887
|
|
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)
|
rs1131690985
|
|
NM_000264.5(PTCH1):c.349A>T (p.Lys117Ter)
|
rs2118875526
|
|
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
|
|
|
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=)
|
rs1838309835
|
|
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
|
|
|
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg)
|
rs1234085004
|
|
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe)
|
rs1838309603
|
|
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
|
|
|
NM_000264.5(PTCH1):c.3513T>C (p.Leu1171=)
|
rs2136607744
|
|
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del)
|
rs1838308465
|
|
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
|
|
|
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met)
|
rs1588519372
|
|
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
|
|
|
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
|
|
|
NM_000264.5(PTCH1):c.351del (p.Ala118fs)
|
rs2118875429
|
|
NM_000264.5(PTCH1):c.351dup (p.Ala118fs)
|
rs2118875429
|
|
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)
|
|
|
NM_000264.5(PTCH1):c.3525_3529del (p.Leu1175fs)
|
rs1838307047
|
|
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys)
|
rs864622160
|
|
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
|
|
|
NM_000264.5(PTCH1):c.3530del (p.Phe1177fs)
|
rs2136607614
|
|
NM_000264.5(PTCH1):c.3531_3534del (p.Phe1177fs)
|
rs1838305772
|
|
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala)
|
rs1314555601
|
|
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
|
|
|
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=)
|
rs930364103
|
|
NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs)
|
rs1554689667
|
|
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3549+10G>C
|
rs587780703
|
|
NM_000264.5(PTCH1):c.3549+11A>G
|
|
|
NM_000264.5(PTCH1):c.3549+15G>A
|
rs1444040515
|
|
NM_000264.5(PTCH1):c.3549+17G>T
|
|
|
NM_000264.5(PTCH1):c.3549+18G>A
|
|
|
NM_000264.5(PTCH1):c.3549+2T>G
|
rs1838303339
|
|
NM_000264.5(PTCH1):c.3549+4A>T
|
|
|
NM_000264.5(PTCH1):c.3549+5G>T
|
rs565899674
|
|
NM_000264.5(PTCH1):c.354_363del (p.Ala119fs)
|
rs2118874752
|
|
NM_000264.5(PTCH1):c.3550-10C>A
|
rs2136603294
|
|
NM_000264.5(PTCH1):c.3550-11C>G
|
|
|
NM_000264.5(PTCH1):c.3550-11C>T
|
|
|
NM_000264.5(PTCH1):c.3550-15A>G
|
rs1337486945
|
|
NM_000264.5(PTCH1):c.3550-19A>G
|
rs2136603435
|
|
NM_000264.5(PTCH1):c.3550-20C>A
|
rs2136603455
|
|
NM_000264.5(PTCH1):c.3550-2A>C
|
rs1838244368
|
|
NM_000264.5(PTCH1):c.3550-4A>G
|
rs1838244885
|
|
NM_000264.5(PTCH1):c.3550-4dup
|
|
|
NM_000264.5(PTCH1):c.3550-9C>G
|
rs1410226185
|
|
NM_000264.5(PTCH1):c.3550-9C>T
|
rs1410226185
|
|
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
|
|
|
NM_000264.5(PTCH1):c.3550del
|
rs1838244110
|
|
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=)
|
rs2136603020
|
|
NM_000264.5(PTCH1):c.3552G>T (p.Val1184=)
|
rs2136603020
|
|
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=)
|
rs1398908173
|
|
NM_000264.5(PTCH1):c.3555T>G (p.Ser1185=)
|
rs1398908173
|
|
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
|
|
|
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu)
|
rs1838242467
|
|
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr)
|
rs1838241713
|
|
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr)
|
|
|
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>C (p.Gly1189Arg)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu)
|
rs762040036
|
|
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
|
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=)
|
|
|
NM_000264.5(PTCH1):c.3582C>T (p.Pro1194=)
|
|
|
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile)
|
rs1588517836
|
|
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser)
|
rs1588517811
|
|
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
|
|
|
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
|
|
|
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.3593C>T (p.Pro1198Leu)
|
|
|
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
|
|
|
NM_000264.5(PTCH1):c.3597G>A (p.Glu1199=)
|
rs2136601860
|
|
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=)
|
rs1588517717
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His)
|
rs1838233041
|
|
NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)
|
|
|
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
|
|
|
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1384935549
|
|
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
|
|
|
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs)
|
rs2136601667
|
|
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.3606dup (p.Ser1203fs)
|
|
|
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
|
|
|
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>G (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
|
|
|
NM_000264.5(PTCH1):c.3612G>A (p.Val1204=)
|
rs2136601481
|
|
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp)
|
rs775882469
|
|
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
|
|
|
NM_000264.5(PTCH1):c.3615C>T (p.Val1205=)
|
|
|
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
|
|
|
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val)
|
rs776424978
|
|
NM_000264.5(PTCH1):c.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.3625A>G (p.Met1209Val)
|
|
|
NM_000264.5(PTCH1):c.3627G>A (p.Met1209Ile)
|
rs1838227370
|
|
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
|
|
|
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.3633del (p.Gly1212fs)
|
rs2136600953
|
|
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
|
|
|
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala)
|
rs1564008713
|
|
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)
|
rs1554689404
|
|
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
|
|
|
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg)
|
rs377608291
|
|
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp)
|
rs768986314
|
|
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys)
|
rs374150356
|
|
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu)
|
|
|
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
|
|
|
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
|
|
|
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=)
|
rs1432605045
|
|
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala)
|
rs1838222745
|
|
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.3656A>T (p.Asp1219Val)
|
rs2136600284
|
|
NM_000264.5(PTCH1):c.3659C>G (p.Ser1220Cys)
|
rs1375226181
|
|
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe)
|
rs1375226181
|
|
NM_000264.5(PTCH1):c.365A>C (p.Glu122Ala)
|
rs1843650243
|
|
NM_000264.5(PTCH1):c.3660C>T (p.Ser1220=)
|
rs1171930911
|
|
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
|
|
|
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
|
|
|
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe)
|
rs1838221565
|
|
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.3667T>G (p.Ser1223Ala)
|
|
|
NM_000264.5(PTCH1):c.366G>A (p.Glu122=)
|
rs1479871006
|
|
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp)
|
rs1479871006
|
|
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
|
|
|
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=)
|
|
|
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
|
|
|
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys)
|
rs2136599880
|
|
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter)
|
rs1588517196
|
|
NM_000264.5(PTCH1):c.3675T>C (p.Tyr1225=)
|
rs1588517196
|
|
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=)
|
rs1588517173
|
|
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=)
|
|
|
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg)
|
rs1838218958
|
|
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=)
|
rs2136599643
|
|
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser)
|
rs1838218744
|
|
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile)
|
rs1843649762
|
|
NM_000264.5(PTCH1):c.3690A>G (p.Thr1230=)
|
|
|
NM_000264.5(PTCH1):c.3690A>T (p.Thr1230=)
|
|
|
NM_000264.5(PTCH1):c.3692_3693inv (p.Val1231Ala)
|
|
|
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
|
|
|
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
|
|
|
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
|
|
|
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
|
|
|
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro)
|
rs1838217335
|
|
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
|
|
|
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg)
|
rs1051927200
|
|
NM_000264.5(PTCH1):c.3711G>A (p.Glu1237=)
|
|
|
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro)
|
rs758728491
|
|
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=)
|
rs1299281832
|
|
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr)
|
rs2136598509
|
|
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
|
|
|
NM_000264.5(PTCH1):c.3720C>T (p.His1240=)
|
|
|
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del)
|
rs760239449
|
|
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
|
|
|
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
|
|
|
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp)
|
rs1838214724
|
|
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
|
|
|
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)
|
rs763779667
|
|
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs)
|
rs2136597743
|
|
NM_000264.5(PTCH1):c.3732G>A (p.Gln1244=)
|
rs2136598143
|
|
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
|
|
|
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)
|
rs1838213882
|
|
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.3742G>A (p.Gly1248Arg)
|
rs2136597903
|
|
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala)
|
rs375857496
|
|
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
|
|
|
NM_000264.5(PTCH1):c.3744A>G (p.Gly1248=)
|
|
|
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)
|
rs769446796
|
|
NM_000264.5(PTCH1):c.3747C>T (p.Gly1249=)
|
rs1588516878
|
|
NM_000264.5(PTCH1):c.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.3758A>C (p.Gln1253Pro)
|
|
|
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
|
|
|
NM_000264.5(PTCH1):c.3764T>C (p.Ile1255Thr)
|
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3765C>G (p.Ile1255Met)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)
|
rs150850039
|
|
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys)
|
rs750397931
|
|
NM_000264.5(PTCH1):c.376G>T (p.Glu126Ter)
|
rs2118874002
|
|
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro)
|
rs1838207256
|
|
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile)
|
rs2136597007
|
|
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
|
|
|
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)
|
rs970679518
|
|
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu)
|
rs1838206596
|
|
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala)
|
rs1588516673
|
|
NM_000264.5(PTCH1):c.378G>A (p.Glu126=)
|
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu)
|
rs144312968
|
|
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
|
|
|
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr)
|
rs751826546
|
|
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
|
|
|
NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter)
|
rs774822170
|
|
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser)
|
rs1554689262
|
|
NM_000264.5(PTCH1):c.3804+10T>A
|
rs763314823
|
|
NM_000264.5(PTCH1):c.3804+11C>T
|
rs2136596246
|
|
NM_000264.5(PTCH1):c.3804+11_3804+12del
|
|
|
NM_000264.5(PTCH1):c.3804+14C>T
|
rs1027523327
|
|
NM_000264.5(PTCH1):c.3804+19C>T
|
|
|
NM_000264.5(PTCH1):c.3804+20C>A
|
|
|
NM_000264.5(PTCH1):c.3804+20C>T
|
|
|
NM_000264.5(PTCH1):c.3804+2dup
|
rs1588516590
|
|
NM_000264.5(PTCH1):c.3804+3_3804+6del
|
|
|
NM_000264.5(PTCH1):c.3805-12C>A
|
|
|
NM_000264.5(PTCH1):c.3805-14C>T
|
rs771678354
|
|
NM_000264.5(PTCH1):c.3805-15C>T
|
|
|
NM_000264.5(PTCH1):c.3805-17A>C
|
|
|
NM_000264.5(PTCH1):c.3805-19C>A
|
|
|
NM_000264.5(PTCH1):c.3805-32_3805-14del
|
rs1838061359
|
|
NM_000264.5(PTCH1):c.3805-4G>A
|
rs1060504537
|
|
NM_000264.5(PTCH1):c.3805-7T>G
|
|
|
NM_000264.5(PTCH1):c.3805-8C>T
|
rs1056411006
|
|
NM_000264.5(PTCH1):c.3805-9C>A
|
rs2236404
|
|
NM_000264.5(PTCH1):c.3805-9C>G
|
rs2236404
|
|
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3807G>C (p.Val1269=)
|
rs1588512522
|
|
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala)
|
rs1342034180
|
|
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
|
|
|
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr)
|
rs1554688752
|
|
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg)
|
rs1838057444
|
|
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.3818A>C (p.Glu1273Ala)
|
|
|
NM_000264.5(PTCH1):c.381G>A (p.Glu127=)
|
rs1232294231
|
|
NM_000264.5(PTCH1):c.381G>C (p.Glu127Asp)
|
|
|
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
|
|
|
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=)
|
rs1588512429
|
|
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr)
|
rs1838054298
|
|
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg)
|
rs755092661
|
|
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu)
|
rs2136584562
|
|
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser)
|
rs1166276004
|
|
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala)
|
rs2136584448
|
|
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.3845C>G (p.Pro1282Arg)
|
|
|
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter)
|
rs1838050037
|
|
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
|
|
|
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
|
|
|
NM_000264.5(PTCH1):c.3855G>A (p.Gln1285=)
|
rs1319416238
|
|
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>G (p.Pro1286=)
|
rs1222530728
|
|
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.3860_3907del (p.His1287_Pro1302del)
|
rs1064792957
|
|
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val)
|
rs1588512171
|
|
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=)
|
rs587780704
|
|
NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter)
|
rs2118873472
|
|
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg)
|
rs2136583470
|
|
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
|
|
|
NM_000264.5(PTCH1):c.3873G>A (p.Gly1291=)
|
rs2136583413
|
|
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)
|
rs1587692888
|
|
NM_000264.5(PTCH1):c.3882T>C (p.Pro1294=)
|
rs2136583157
|
|
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser)
|
rs1060502275
|
|
NM_000264.5(PTCH1):c.3885del (p.Gly1296fs)
|
|
|
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg)
|
rs372828014
|
|
NM_000264.5(PTCH1):c.3887G>T (p.Gly1296Val)
|
rs2136583024
|
|
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
|
|
|
NM_000264.5(PTCH1):c.3894A>G (p.Gln1298=)
|
|
|
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp)
|
rs773133083
|
|
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
|
|
|
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=)
|
|
|
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
|
|
|
NM_000264.5(PTCH1):c.3903G>A (p.Gln1301=)
|
rs2136582488
|
|
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)
|
rs780042369
|
|
NM_000264.5(PTCH1):c.3906C>T (p.Pro1302=)
|
rs2136582395
|
|
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)
|
rs779365332
|
|
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=)
|
rs1458552244
|
|
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
|
|
|
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys)
|
rs1838039734
|
|
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>T (p.Asp1305=)
|
|
|
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser)
|
rs1169961504
|
|
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.391G>A (p.Glu131Lys)
|
rs1321623220
|
|
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
|
|
|
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.3921del (p.Arg1308fs)
|
|
|
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.3930C>G (p.Gly1310=)
|
rs769743412
|
|
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)
|
|
|
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>A (p.Trp1312Ter)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.3939A>T (p.Pro1313=)
|
|
|
NM_000264.5(PTCH1):c.394+10C>G
|
rs755119764
|
|
NM_000264.5(PTCH1):c.394+13G>C
|
|
|
NM_000264.5(PTCH1):c.394+13_394+30del
|
|
|
NM_000264.5(PTCH1):c.394+14_394+33del
|
rs2118871805
|
|
NM_000264.5(PTCH1):c.394+15C>A
|
|
|
NM_000264.5(PTCH1):c.394+15_394+26del
|
rs762616418
|
|
NM_000264.5(PTCH1):c.394+15del
|
|
|
NM_000264.5(PTCH1):c.394+16G>C
|
|
|
NM_000264.5(PTCH1):c.394+17C>T
|
|
|
NM_000264.5(PTCH1):c.394+18G>C
|
rs749589611
|
|
NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
|
|
NM_000264.5(PTCH1):c.394+20C>T
|
|
|
NM_000264.5(PTCH1):c.394+24C>T
|
rs561263076
|
|
NM_000264.5(PTCH1):c.394+2dup
|
rs1587692814
|
|
NM_000264.5(PTCH1):c.394+4A>G
|
|
|
NM_000264.5(PTCH1):c.394+6A>T
|
|
|
NM_000264.5(PTCH1):c.394+8C>G
|
rs1373035322
|
|
NM_000264.5(PTCH1):c.394+8C>T
|
|
|
NM_000264.5(PTCH1):c.394+9G>C
|
rs1587692775
|
|
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
|
|
|
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
|
|
|
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=)
|
rs1406247800
|
|
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val)
|
rs2136581220
|
|
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala)
|
|
|
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe)
|
rs1588511695
|
|
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.3944_3945insT (p.Tyr1316fs)
|
rs1838031865
|
|
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)
|
rs1482005246
|
|
NM_000264.5(PTCH1):c.395-11A>G
|
rs748299945
|
|
NM_000264.5(PTCH1):c.395-11A>T
|
|
|
NM_000264.5(PTCH1):c.395-13A>G
|
|
|
NM_000264.5(PTCH1):c.395-14T>A
|
rs2118552430
|
|
NM_000264.5(PTCH1):c.395-15G>A
|
|
|
NM_000264.5(PTCH1):c.395-18C>G
|
|
|
NM_000264.5(PTCH1):c.395-18C>T
|
|
|
NM_000264.5(PTCH1):c.395-5G>C
|
|
|
NM_000264.5(PTCH1):c.395-6T>G
|
rs1162835966
|
|
NM_000264.5(PTCH1):c.395-7T>G
|
rs2118551966
|
|
NM_000264.5(PTCH1):c.395-8T>C
|
rs755013836
|
|
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser)
|
rs1211632031
|
|
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.3956G>T (p.Arg1319Leu)
|
rs572658914
|
|
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)
|
rs1554688549
|
|
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly)
|
rs1838027827
|
|
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
|
|
|
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.3968T>C (p.Phe1323Ser)
|
|
|
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
|
|
|
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
|
|
|
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
|
|
|
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe)
|
rs764964224
|
|
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala)
|
rs761753681
|
|
NM_000264.5(PTCH1):c.3981T>C (p.Thr1327=)
|
rs1588511470
|
|
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=)
|
rs1588511470
|
|
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg)
|
rs1564005652
|
|
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys)
|
rs150373546
|
|
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe)
|
rs150373546
|
|
NM_000264.5(PTCH1):c.399A>G (p.Gly133=)
|
rs2118551268
|
|
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup)
|
rs1588511230
|
|
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr)
|
rs200620662
|
|
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg)
|
rs933654875
|
|
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
|
|
|
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=)
|
rs1588511343
|
|
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
|
|
|
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys)
|
rs1838019737
|
|
NM_000264.5(PTCH1):c.4008G>A (p.Arg1336=)
|
rs1838019496
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
|
|
|
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=)
|
|
|
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.4018G>A (p.Gly1340Ser)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
|
|
|
NM_000264.5(PTCH1):c.4020C>G (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000264.5(PTCH1):c.4021C>T (p.Pro1341Ser)
|
|
|
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu)
|
rs748609458
|
|
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly)
|
rs781539921
|
|
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu)
|
rs575146278
|
|
NM_000264.5(PTCH1):c.4026C>A (p.Arg1342=)
|
|
|
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp)
|
rs200100952
|
|
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=)
|
rs750057721
|
|
NM_000264.5(PTCH1):c.402A>C (p.Gly134=)
|
|
|
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val)
|
rs1060502289
|
|
NM_000264.5(PTCH1):c.4032C>T (p.Ala1344=)
|
rs1838013057
|
|
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly)
|
rs556901417
|
|
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe)
|
rs1554688418
|
|
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr)
|
rs760724368
|
|
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
|
rs1131690986
|
|
NM_000264.5(PTCH1):c.403_406del (p.Gly134_Arg135insTer)
|
|
|
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu)
|
rs2136578408
|
|
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.4048C>A (p.Arg1350=)
|
rs140417636
|
|
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly)
|
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>A (p.Asn1351Lys)
|
rs1564005341
|
|
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu)
|
rs1022984391
|
|
NM_000264.5(PTCH1):c.405A>G (p.Arg135=)
|
|
|
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
|
|
|
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile)
|
rs779482395
|
|
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val)
|
rs2136577556
|
|
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.406G>A (p.Val136Ile)
|
rs1240746395
|
|
NM_000264.5(PTCH1):c.406del (p.Arg135_Val136insTer)
|
rs2118550859
|
|
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
|
|
|
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
|
|
|
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
|
|
|
NM_000264.5(PTCH1):c.4077C>T (p.Ser1359=)
|
|
|
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro)
|
rs1838003007
|
|
NM_000264.5(PTCH1):c.407dup (p.Ser137fs)
|
rs1564063386
|
|
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.4084C>T (p.Pro1362Ser)
|
rs1838001528
|
|
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
|
|
|
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)
|
rs767625820
|
|
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
|
|
|
NM_000264.5(PTCH1):c.408A>G (p.Val136=)
|
|
|
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys)
|
rs1838000346
|
|
NM_000264.5(PTCH1):c.4092C>T (p.Tyr1364=)
|
rs2136576724
|
|
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe)
|
rs1397510746
|
|
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=)
|
rs864622569
|
|
NM_000264.5(PTCH1):c.4101C>T (p.Pro1367=)
|
|
|
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
|
|
|
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile)
|
rs762925808
|
|
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
|
|
|
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
|
|
|
NM_000264.5(PTCH1):c.4110T>C (p.Thr1370=)
|
|
|
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met)
|
rs1837997469
|
|
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
|
|
|
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.4118C>G (p.Ala1373Gly)
|
rs2136576006
|
|
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser)
|
rs769022340
|
|
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
|
|
|
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=)
|
rs775974258
|
|
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu)
|
rs745337014
|
|
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=)
|
rs2136575661
|
|
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
|
|
|
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu)
|
rs2136575538
|
|
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser)
|
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.4143G>A (p.Val1381=)
|
rs2136575217
|
|
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>G (p.His1382Gln)
|
rs1207158056
|
|
NM_000264.5(PTCH1):c.4149G>T (p.Pro1383=)
|
|
|
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.4158C>T (p.Val1386=)
|
|
|
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg)
|
rs552921967
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
|
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])
|
rs1060502272
|
|
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs)
|
rs1837987148
|
|
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
|
|
|
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser)
|
rs1180812915
|
|
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.4168G>T (p.Gly1390Trp)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu)
|
rs1837985101
|
|
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
|
|
|
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=)
|
rs45535032
|
|
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr)
|
rs1388774785
|
|
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=)
|
rs1057521043
|
|
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)
|
rs1057521043
|
|
NM_000264.5(PTCH1):c.417A>G (p.Glu139=)
|
rs755854293
|
|
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs)
|
rs1297699637
|
|
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
|
|
|
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=)
|
rs769616992
|
|
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
|
|
|
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val)
|
rs747923595
|
|
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs)
|
rs1588510168
|
|
NM_000264.5(PTCH1):c.4188A>G (p.Gly1396=)
|
rs2136573868
|
|
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
|
|
|
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile)
|
rs1837978959
|
|
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe)
|
rs1837978959
|
|
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.4191_4192dup (p.Cys1398fs)
|
|
|
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg)
|
rs1372936088
|
|
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
|
|
|
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
|
|
|
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs)
|
rs1837977676
|
|
NM_000264.5(PTCH1):c.4194C>T (p.Cys1398=)
|
|
|
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu)
|
rs1564004776
|
|
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
|
|
|
NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)
|
|
|
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=)
|
rs1554688167
|
|
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His)
|
rs2136573477
|
|
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
|
|
|
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.4207G>A (p.Glu1403Lys)
|
|
|
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly)
|
rs1837974768
|
|
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
|
|
|
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.4218del (p.His1406fs)
|
rs2136573069
|
|
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
|
|
|
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp)
|
rs1841928550
|
|
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
|
|
|
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys)
|
rs1554688143
|
|
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.4232A>G (p.Asp1411Gly)
|
rs774913538
|
|
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
|
|
|
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.4234C>T (p.Pro1412Ser)
|
rs1554688130
|
|
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.4238A>G (p.His1413Arg)
|
|
|
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
|
|
|
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
|
|
|
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
|
|
|
NM_000264.5(PTCH1):c.4242G>A (p.Val1414=)
|
rs1390378010
|
|
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala)
|
rs1837967897
|
|
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu)
|
rs1554688102
|
|
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
|
|
|
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys)
|
rs1837966836
|
|
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
|
|
|
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe)
|
rs369882883
|
|
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala)
|
rs2136572074
|
|
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.4255C>G (p.Arg1419Gly)
|
|
|
NM_000264.5(PTCH1):c.4257G>C (p.Arg1419=)
|
rs1588509739
|
|
NM_000264.5(PTCH1):c.4257G>T (p.Arg1419=)
|
rs1588509739
|
|
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg)
|
rs864622068
|
|
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr)
|
rs913816675
|
|
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
|
|
|
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys)
|
rs575473447
|
|
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.4267A>G (p.Arg1423Gly)
|
|
|
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
|
|
|
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
|
|
|
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
|
|
|
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr)
|
rs1837962537
|
|
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
|
|
|
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
|
|
|
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
|
|
|
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
|
|
|
NM_000264.5(PTCH1):c.4278G>A (p.Lys1426=)
|
|
|
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.4282G>A (p.Glu1428Lys)
|
|
|
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
|
|
|
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln)
|
rs755078405
|
|
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
|
|
|
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=)
|
rs1554688070
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.429T>C (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.429T>G (p.Thr143=)
|
|
|
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly)
|
rs2136571074
|
|
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=)
|
|
|
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
|
|
|
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly)
|
rs2136570975
|
|
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
|
|
|
NM_000264.5(PTCH1):c.430del (p.Arg144fs)
|
|
|
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp)
|
rs368571026
|
|
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
|
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
|
|
|
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.431_438del (p.Arg144fs)
|
rs2118548727
|
|
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
|
|
|
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly)
|
rs143464326
|
|
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu)
|
rs56023271
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
|
|
|
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn)
|
rs1347860599
|
|
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=)
|
rs1325469372
|
|
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe)
|
rs2136570475
|
|
NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)
|
rs1554702186
|
|
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
|
|
|
NM_000264.5(PTCH1):c.4343G>A (p.Ter1448=)
|
rs2136570427
|
|
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
|
|
|
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
|
|
|
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
|
|
|
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val)
|
rs1564063300
|
|
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.451del (p.Ala151fs)
|
rs2118547596
|
|
NM_000264.5(PTCH1):c.452_464del (p.Ala151fs)
|
rs1841923572
|
|
NM_000264.5(PTCH1):c.453T>C (p.Ala151=)
|
|
|
NM_000264.5(PTCH1):c.453T>G (p.Ala151=)
|
rs879188085
|
|
NM_000264.5(PTCH1):c.454_455del (p.Met152fs)
|
rs1060502280
|
|
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile)
|
rs1302474403
|
|
NM_000264.5(PTCH1):c.466C>T (p.Gln156Ter)
|
rs2118546196
|
|
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.469C>A (p.Leu157Ile)
|
|
|
NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro)
|
rs2118545890
|
|
NM_000264.5(PTCH1):c.471C>T (p.Leu157=)
|
|
|
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.474G>A (p.Met158Ile)
|
|
|
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val)
|
rs1060502288
|
|
NM_000264.5(PTCH1):c.478C>T (p.Gln160Ter)
|
|
|
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg)
|
rs1060502267
|
|
NM_000264.5(PTCH1):c.480G>A (p.Gln160=)
|
rs1841921572
|
|
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
|
|
|
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
|
|
|
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.488A>G (p.Lys163Arg)
|
rs56406491
|
|
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
|
|
NM_000264.5(PTCH1):c.489A>G (p.Lys163=)
|
rs2118544161
|
|
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys)
|
rs2118544070
|
|
NM_000264.5(PTCH1):c.490G>T (p.Glu164Ter)
|
|
|
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser)
|
rs2118543729
|
|
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val)
|
rs587780707
|
|
NM_000264.5(PTCH1):c.501T>A (p.Ala167=)
|
rs1841918369
|
|
NM_000264.5(PTCH1):c.501T>C (p.Ala167=)
|
rs1841918369
|
|
NM_000264.5(PTCH1):c.501_502dup (p.Asn168fs)
|
rs2118543334
|
|
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp)
|
rs2118543274
|
|
NM_000264.5(PTCH1):c.503A>C (p.Asn168Thr)
|
|
|
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
|
|
|
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.508C>T (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
|
|
|
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile)
|
rs1554702106
|
|
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly)
|
rs772368023
|
|
NM_000264.5(PTCH1):c.522G>T (p.Ala174=)
|
rs891032185
|
|
NM_000264.5(PTCH1):c.525C>T (p.Leu175=)
|
rs1554702079
|
|
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del)
|
rs864622108
|
|
NM_000264.5(PTCH1):c.529C>T (p.Gln177Ter)
|
rs2118540467
|
|
NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
|
rs1841912540
|
|
NM_000264.5(PTCH1):c.533A>G (p.His178Arg)
|
rs1588622337
|
|
NM_000264.5(PTCH1):c.538G>C (p.Asp180His)
|
rs1554702067
|
|
NM_000264.5(PTCH1):c.540C>G (p.Asp180Glu)
|
|
|
NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr)
|
rs2118539440
|
|
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
|
|
|
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val)
|
rs1276503562
|
|
NM_000264.5(PTCH1):c.554_584+1dup
|
rs2118537234
|
|
NM_000264.5(PTCH1):c.555C>T (p.Ala185=)
|
rs1197767332
|
|
NM_000264.5(PTCH1):c.555del (p.Ser186fs)
|
rs2118538755
|
|
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.559del (p.Arg187fs)
|
|
|
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu)
|
rs1841905841
|
|
NM_000264.5(PTCH1):c.564C>A (p.Val188=)
|
|
|
NM_000264.5(PTCH1):c.564C>G (p.Val188=)
|
rs963079015
|
|
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
|
|
|
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
|
|
|
NM_000264.5(PTCH1):c.570A>G (p.Val190=)
|
rs1292107414
|
|
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His)
|
rs1480028040
|
|
NM_000264.5(PTCH1):c.573C>A (p.Tyr191Ter)
|
rs1249050389
|
|
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=)
|
rs1249050389
|
|
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His)
|
rs1841905015
|
|
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)
|
rs1333346461
|
|
NM_000264.5(PTCH1):c.582C>T (p.Asn194=)
|
rs2118537361
|
|
NM_000264.5(PTCH1):c.584+10G>C
|
rs765713791
|
|
NM_000264.5(PTCH1):c.584+16T>A
|
|
|
NM_000264.5(PTCH1):c.584+16T>G
|
|
|
NM_000264.5(PTCH1):c.584+18C>G
|
|
|
NM_000264.5(PTCH1):c.584+20C>T
|
|
|
NM_000264.5(PTCH1):c.584+8C>T
|
|
|
NM_000264.5(PTCH1):c.584G>A (p.Arg195Lys)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.585-10A>G
|
|
|
NM_000264.5(PTCH1):c.585-11_585-7del
|
rs1588614760
|
|
NM_000264.5(PTCH1):c.585-17_585-13del
|
rs776103507
|
|
NM_000264.5(PTCH1):c.585-1G>A
|
|
|
NM_000264.5(PTCH1):c.585-1G>C
|
rs1057520590
|
|
NM_000264.5(PTCH1):c.585-20T>G
|
|
|
NM_000264.5(PTCH1):c.585-5A>G
|
rs1588614746
|
|
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
|
|
|
NM_000264.5(PTCH1):c.586C>T (p.Gln196Ter)
|
|
|
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg)
|
rs1312950307
|
|
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)
|
rs1064793922
|
|
NM_000264.5(PTCH1):c.591G>A (p.Trp197Ter)
|
rs1841597665
|
|
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
|
|
|
NM_000264.5(PTCH1):c.595T>C (p.Leu199=)
|
rs2118474956
|
|
NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp)
|
rs767791358
|
|
NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
|
|
|
NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
|
|
|
NM_000264.5(PTCH1):c.600A>G (p.Glu200=)
|
|
|
NM_000264.5(PTCH1):c.602del (p.His201fs)
|
rs1554700742
|
|
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
|
|
|
NM_000264.5(PTCH1):c.606G>A (p.Leu202=)
|
rs769719333
|
|
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe)
|
rs769719333
|
|
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
|
|
|
NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter)
|
rs863224486
|
|
NM_000264.5(PTCH1):c.612C>T (p.Tyr204=)
|
|
|
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr)
|
rs1841595401
|
|
NM_000264.5(PTCH1):c.615del (p.Lys205fs)
|
rs1554700720
|
|
NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)
|
|
|
NM_000264.5(PTCH1):c.618A>C (p.Ser206=)
|
|
|
NM_000264.5(PTCH1):c.618A>G (p.Ser206=)
|
rs1841594710
|
|
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala)
|
rs2118473498
|
|
NM_000264.5(PTCH1):c.627del (p.Ile210fs)
|
rs1564058222
|
|
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val)
|
rs1588614551
|
|
NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe)
|
rs1588614551
|
|
NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
|
|
|
NM_000264.5(PTCH1):c.633A>G (p.Thr211=)
|
|
|
NM_000264.5(PTCH1):c.639del (p.Gly214fs)
|
rs2118472793
|
|
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
|
|
|
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.647T>C (p.Met216Thr)
|
|
|
NM_000264.5(PTCH1):c.648_651dup (p.Gln218fs)
|
rs2118472215
|
|
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
|
|
|
NM_000264.5(PTCH1):c.652dup (p.Gln218fs)
|
rs1564058147
|
|
NM_000264.5(PTCH1):c.654+10C>G
|
|
|
NM_000264.5(PTCH1):c.654+12T>G
|
rs1841588620
|
|
NM_000264.5(PTCH1):c.654+13C>A
|
|
|
NM_000264.5(PTCH1):c.654+16G>C
|
|
|
NM_000264.5(PTCH1):c.654+17T>C
|
|
|
NM_000264.5(PTCH1):c.654+19G>A
|
|
|
NM_000264.5(PTCH1):c.654+19G>T
|
|
|
NM_000264.5(PTCH1):c.654+1G>A
|
rs2118471978
|
|
NM_000264.5(PTCH1):c.654+3A>G
|
rs1131690966
|
|
NM_000264.5(PTCH1):c.654+7T>A
|
rs1588614471
|
|
NM_000264.5(PTCH1):c.654+8T>G
|
rs2118471579
|
|
NM_000264.5(PTCH1):c.654+9T>C
|
rs1554700690
|
|
NM_000264.5(PTCH1):c.655-11A>G
|
|
|
NM_000264.5(PTCH1):c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC
|
|
|
NM_000264.5(PTCH1):c.655-17_655-15del
|
|
|
NM_000264.5(PTCH1):c.655-1G>T
|
|
|
NM_000264.5(PTCH1):c.655-20C>A
|
|
|
NM_000264.5(PTCH1):c.655-2A>G
|
|
|
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
|
|
|
NM_000264.5(PTCH1):c.657A>T (p.Ile219=)
|
rs1425544626
|
|
NM_000264.5(PTCH1):c.660_661insAA (p.Glu221fs)
|
rs2118466784
|
|
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys)
|
rs1554700647
|
|
NM_000264.5(PTCH1):c.663A>G (p.Glu221=)
|
rs1479973586
|
|
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
|
|
|
NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter)
|
rs863224487
|
|
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)
|
rs1266754583
|
|
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
|
|
|
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.676T>G (p.Cys226Gly)
|
|
|
NM_000264.5(PTCH1):c.680T>A (p.Leu227Ter)
|
rs1841576850
|
|
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
|
|
|
NM_000264.5(PTCH1):c.681_684del (p.Ile228fs)
|
rs1841576526
|
|
NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu)
|
rs2118465097
|
|
NM_000264.5(PTCH1):c.685A>G (p.Ile229Val)
|
rs1841575695
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.690A>G (p.Thr230=)
|
rs2118464335
|
|
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser)
|
rs1564057856
|
|
NM_000264.5(PTCH1):c.692C>T (p.Pro231Leu)
|
|
|
NM_000264.5(PTCH1):c.694T>C (p.Leu232=)
|
|
|
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
|
|
|
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe)
|
rs1060502299
|
|
NM_000264.5(PTCH1):c.702C>A (p.Cys234Ter)
|
|
|
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
|
|
|
NM_000264.5(PTCH1):c.707G>A (p.Trp236Ter)
|
rs1841574026
|
|
NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)
|
rs1060502287
|
|
NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys)
|
rs2118462668
|
|
NM_000264.5(PTCH1):c.711A>G (p.Glu237=)
|
rs1588614118
|
|
NM_000264.5(PTCH1):c.714G>C (p.Gly238=)
|
|
|
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr)
|
rs1841573078
|
|
NM_000264.5(PTCH1):c.715del (p.Ala239fs)
|
rs1131690971
|
|
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
|
|
|
NM_000264.5(PTCH1):c.721T>C (p.Leu241=)
|
rs1554700612
|
|
NM_000264.5(PTCH1):c.722T>G (p.Leu241Ter)
|
rs2118461277
|
|
NM_000264.5(PTCH1):c.723A>G (p.Leu241=)
|
rs2118461122
|
|
NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)
|
rs376353501
|
|
NM_000264.5(PTCH1):c.724_725del (p.Gln242fs)
|
rs2118460945
|
|
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
|
|
|
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
|
|
|
NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser)
|
rs2118460143
|
|
NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg)
|
rs1841570436
|
|
NM_000264.5(PTCH1):c.740_746+1delinsT
|
|
|
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)
|
rs1060502281
|
|
NM_000264.5(PTCH1):c.741_746+1del
|
rs1554700574
|
|
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
|
|
|
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe)
|
rs1841568646
|
|
NM_000264.5(PTCH1):c.742dup (p.Leu248fs)
|
|
|
NM_000264.5(PTCH1):c.744C>G (p.Leu248=)
|
rs2118458881
|
|
NM_000264.5(PTCH1):c.746+10T>A
|
rs1554700563
|
|
NM_000264.5(PTCH1):c.746+11G>A
|
|
|
NM_000264.5(PTCH1):c.746+11G>C
|
rs774992791
|
|
NM_000264.5(PTCH1):c.746+12A>T
|
|
|
NM_000264.5(PTCH1):c.746+13T>C
|
rs1014606258
|
|
NM_000264.5(PTCH1):c.746+14C>G
|
|
|
NM_000264.5(PTCH1):c.746+1G>A
|
|
|
NM_000264.5(PTCH1):c.746+2T>G
|
rs1841568184
|
|
NM_000264.5(PTCH1):c.746+2dup
|
|
|
NM_000264.5(PTCH1):c.746+3A>G
|
rs1841567989
|
|
NM_000264.5(PTCH1):c.746+5G>C
|
|
|
NM_000264.5(PTCH1):c.746+6TG[4]
|
rs770615351
|
|
NM_000264.5(PTCH1):c.746+9G>A
|
|
|
NM_000264.5(PTCH1):c.746del (p.Leu249fs)
|
rs2118458606
|
|
NM_000264.5(PTCH1):c.747-12T>C
|
|
|
NM_000264.5(PTCH1):c.747-14A>G
|
rs373907227
|
|
NM_000264.5(PTCH1):c.747-16C>T
|
|
|
NM_000264.5(PTCH1):c.747-17C>G
|
rs1841460679
|
|
NM_000264.5(PTCH1):c.747-17C>T
|
|
|
NM_000264.5(PTCH1):c.747-19C>T
|
rs555297981
|
|
NM_000264.5(PTCH1):c.747-1G>A
|
rs2118429101
|
|
NM_000264.5(PTCH1):c.747-54_1261del
|
|
|
NM_000264.5(PTCH1):c.747-6T>C
|
rs2118429284
|
|
NM_000264.5(PTCH1):c.747-9C>G
|
|
|
NM_000264.5(PTCH1):c.747-9del
|
rs1841459388
|
|
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
|
|
|
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.756T>A (p.Pro252=)
|
rs2118428399
|
|
NM_000264.5(PTCH1):c.758del (p.Pro253fs)
|
|
|
NM_000264.5(PTCH1):c.759T>C (p.Pro253=)
|
rs1588610513
|
|
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>A (p.Arg255=)
|
|
|
NM_000264.5(PTCH1):c.765G>T (p.Arg255=)
|
rs2118427794
|
|
NM_000264.5(PTCH1):c.765del (p.Trp256fs)
|
rs2118427859
|
|
NM_000264.5(PTCH1):c.766_767del (p.Trp256fs)
|
|
|
NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter)
|
rs1554700010
|
|
NM_000264.5(PTCH1):c.768G>A (p.Trp256Ter)
|
|
|
NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer)
|
rs1564055868
|
|
NM_000264.5(PTCH1):c.771A>G (p.Thr257=)
|
rs2118427410
|
|
NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
|
|
|
NM_000264.5(PTCH1):c.773del (p.Asn258fs)
|
|
|
NM_000264.5(PTCH1):c.774C>T (p.Asn258=)
|
|
|
NM_000264.5(PTCH1):c.775_778del (p.Phe259fs)
|
rs2118427012
|
|
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
|
|
|
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)
|
rs368102115
|
|
NM_000264.5(PTCH1):c.780C>T (p.Asp260=)
|
rs2118426797
|
|
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
|
|
|
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
|
|
|
NM_000264.5(PTCH1):c.783T>C (p.Pro261=)
|
rs1554699996
|
|
NM_000264.5(PTCH1):c.783T>G (p.Pro261=)
|
rs1554699996
|
|
NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
|
|
|
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser)
|
rs1318134628
|
|
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys)
|
rs1588610385
|
|
NM_000264.5(PTCH1):c.792C>T (p.Phe264=)
|
rs2118425622
|
|
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
|
|
|
NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
|
|
|
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg)
|
rs1841454562
|
|
NM_000264.5(PTCH1):c.807G>A (p.Lys269=)
|
rs2118423662
|
|
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
|
rs1131690969
|
|
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter)
|
rs1588610324
|
|
NM_000264.5(PTCH1):c.811del (p.Lys270_Ile271insTer)
|
rs2118423280
|
|
NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)
|
|
|
NM_000264.5(PTCH1):c.816_852del (p.Asn272fs)
|
rs2118419579
|
|
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu)
|
rs2118422378
|
|
NM_000264.5(PTCH1):c.822del (p.Val275fs)
|
rs1554699964
|
|
NM_000264.5(PTCH1):c.825G>A (p.Val275=)
|
rs2118421809
|
|
NM_000264.5(PTCH1):c.831C>T (p.Ser277=)
|
rs773794742
|
|
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
|
|
|
NM_000264.5(PTCH1):c.834G>A (p.Trp278Ter)
|
rs2118420718
|
|
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
|
|
|
NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)
|
|
|
NM_000264.5(PTCH1):c.841A>G (p.Met281Val)
|
rs2118420301
|
|
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)
|
rs1564055682
|
|
NM_000264.5(PTCH1):c.849T>G (p.Asn283Lys)
|
|
|
NM_000264.5(PTCH1):c.850A>C (p.Lys284Gln)
|
rs1841450813
|
|
NM_000264.5(PTCH1):c.852G>A (p.Lys284=)
|
rs2118419496
|
|
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
|
|
|
NM_000264.5(PTCH1):c.855T>G (p.Ala285=)
|
rs1060504539
|
|
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys)
|
rs1841450226
|
|
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
|
|
|
NM_000264.5(PTCH1):c.861T>C (p.Val287=)
|
rs2118418760
|
|
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
|
|
|
NM_000264.5(PTCH1):c.864T>C (p.Gly288=)
|
|
|
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
|
|
|
NM_000264.5(PTCH1):c.867T>C (p.His289=)
|
rs1319404006
|
|
NM_000264.5(PTCH1):c.867_868dup (p.Gly290fs)
|
rs2118418344
|
|
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser)
|
rs2118418275
|
|
NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp)
|
rs864622130
|
|
NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
|
|
|
NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter)
|
rs1564055606
|
|
NM_000264.5(PTCH1):c.873del (p.Gly290_Tyr291insTer)
|
rs1564055612
|
|
NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
|
rs1588610088
|
|
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
|
rs748727674
|
|
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)
|
rs776187586
|
|
NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys)
|
rs1841447254
|
|
NM_000264.5(PTCH1):c.881G>C (p.Arg294Pro)
|
rs878853859
|
|
NM_000264.5(PTCH1):c.882C>A (p.Arg294=)
|
rs145893445
|
|
NM_000264.5(PTCH1):c.885C>G (p.Pro295=)
|
|
|
NM_000264.5(PTCH1):c.886del (p.Cys296fs)
|
rs1131690987
|
|
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe)
|
rs1841445491
|
|
NM_000264.5(PTCH1):c.891C>G (p.Leu297=)
|
|
|
NM_000264.5(PTCH1):c.892A>C (p.Asn298His)
|
rs1588609918
|
|
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
|
|
|
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
|
|
|
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln)
|
rs141939274
|
|
NM_000264.5(PTCH1):c.897G>C (p.Pro299=)
|
rs56141639
|
|
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
|
|
|
NM_000264.5(PTCH1):c.898del (p.Ala300fs)
|
|
|
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
|
|
|
NM_000264.5(PTCH1):c.900C>G (p.Ala300=)
|
rs201962105
|
|
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr)
|
rs767601899
|
|
NM_000264.5(PTCH1):c.901_905del (p.Asp301fs)
|
|
|
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
|
|
|
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala)
|
rs1197814180
|
|
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
|
|
|
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
|
|
|
NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)
|
|
|
NM_000264.5(PTCH1):c.912C>A (p.Cys304Ter)
|
rs2118414186
|
|
NM_000264.5(PTCH1):c.915del (p.Ala306fs)
|
rs2118413937
|
|
NM_000264.5(PTCH1):c.915dup (p.Ala306fs)
|
rs2118413937
|
|
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
|
|
|
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
|
|
|
NM_000264.5(PTCH1):c.921A>G (p.Thr307=)
|
rs763339917
|
|
NM_000264.5(PTCH1):c.921dup (p.Ala308fs)
|
rs1554699837
|
|
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly)
|
rs2118413122
|
|
NM_000264.5(PTCH1):c.927C>A (p.Pro309=)
|
|
|
NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser)
|
rs2118412532
|
|
NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
|
|
|
NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
|
|
|
NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
|
|
|
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)
|
rs1564055259
|
|
NM_000264.5(PTCH1):c.939A>G (p.Ser313=)
|
rs1841439010
|
|
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala)
|
rs2118411651
|
|
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
|
|
|
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
|
|
|
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu)
|
rs1564055253
|
|
NM_000264.5(PTCH1):c.945+12C>G
|
rs2118409985
|
|
NM_000264.5(PTCH1):c.945+19C>A
|
rs538776608
|
|
NM_000264.5(PTCH1):c.945+1G>A
|
rs863224444
|
|
NM_000264.5(PTCH1):c.945+2T>G
|
|
|
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT
|
rs1588609559
|
|
NM_000264.5(PTCH1):c.945+3G>A
|
rs775144388
|
|
NM_000264.5(PTCH1):c.945+3_945+6del
|
rs1064795637
|
|
NM_000264.5(PTCH1):c.945+4A>C
|
rs1564055215
|
|
NM_000264.5(PTCH1):c.945+5G>C
|
|
|
NM_000264.5(PTCH1):c.945+6dup
|
rs2118410569
|
|
NM_000264.5(PTCH1):c.945+8C>G
|
|
|
NM_000264.5(PTCH1):c.945+8C>T
|
|
|
NM_000264.5(PTCH1):c.945+9C>A
|
|
|
NM_000264.5(PTCH1):c.945+9C>G
|
rs878853860
|
|
NM_000264.5(PTCH1):c.945del (p.Lys315fs)
|
|
|
NM_000264.5(PTCH1):c.946-11T>A
|
|
|
NM_000264.5(PTCH1):c.946-13C>G
|
|
|
NM_000264.5(PTCH1):c.946-14T>C
|
|
|
NM_000264.5(PTCH1):c.946-14T>G
|
|
|
NM_000264.5(PTCH1):c.946-18G>A
|
rs1447732065
|
|
NM_000264.5(PTCH1):c.946-19G>A
|
|
|
NM_000264.5(PTCH1):c.946-5T>A
|
rs1588608882
|
|
NM_000264.5(PTCH1):c.946-5T>C
|
rs1588608882
|
|
NM_000264.5(PTCH1):c.946-6T>C
|
|
|
NM_000264.5(PTCH1):c.946-7A>T
|
|
|
NM_000264.5(PTCH1):c.946-8T>C
|
rs202011325
|
|
NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu)
|
rs143813198
|
|
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
|
rs1380199153
|
|
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
|
|
|
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
|
|
|
NM_000264.5(PTCH1):c.955_956del (p.Met319fs)
|
rs1841411687
|
|
NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser)
|
rs1554699658
|
|
NM_000264.5(PTCH1):c.959C>T (p.Ala320Val)
|
rs2118395686
|
|
NM_000264.5(PTCH1):c.961del (p.Val322fs)
|
rs1588608794
|
|
NM_000264.5(PTCH1):c.963T>C (p.Leu321=)
|
rs1588608777
|
|
NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
|
|
|
NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
|
|
|
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met)
|
rs1358555059
|
|
NM_000264.5(PTCH1):c.970_976del (p.Asn324fs)
|
rs1588608715
|
|
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser)
|
rs1588608738
|
|
NM_000264.5(PTCH1):c.978A>C (p.Gly326=)
|
|
|
NM_000264.5(PTCH1):c.978A>T (p.Gly326=)
|
rs2118394366
|
|
NM_000264.5(PTCH1):c.981T>C (p.Cys327=)
|
rs2118394148
|
|
NM_000264.5(PTCH1):c.983A>T (p.His328Leu)
|
rs1484111496
|
|
NM_000264.5(PTCH1):c.987C>T (p.Gly329=)
|
|
|
NM_000264.5(PTCH1):c.988T>G (p.Leu330Val)
|
rs1841408486
|
|
NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys)
|
rs1841408288
|
|
NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr)
|
rs1564054690
|
|
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
|
|
|
NM_000264.5(PTCH1):c.998A>T (p.Lys333Met)
|
rs1238175144
|
|
NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
|
|
|
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs)
|
rs1447209500
|
|
NM_001083603.3(PTCH1):c.198+468G>T
|
rs1445378342
|
|
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)
|
rs752765582
|
|
NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)
|
|
|
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)
|
|
|
NM_001354918.2(PTCH1):c.1347+354_1347+357del
|
|
|