NM_000264.5(PTCH1):c.3306+83dup
|
rs5899258
|
0.45976
|
NM_000264.5(PTCH1):c.1348-136C>T
|
rs2297086
|
0.44647
|
NM_000264.5(PTCH1):c.2561-80G>C
|
rs2274692
|
0.44599
|
NM_000264.5(PTCH1):c.747-114C>T
|
rs2297088
|
0.44525
|
NM_000264.5(PTCH1):c.2887+21A>G
|
rs2236406
|
0.44137
|
NM_001083603.3(PTCH1):c.198+261G>T
|
rs28591501
|
0.37633
|
NM_000264.5(PTCH1):c.201+275T>C
|
rs1355620
|
0.37553
|
NM_000264.5(PTCH1):c.1067+139T>C
|
rs2274694
|
0.23224
|
NM_000264.5(PTCH1):c.747-55T>C
|
rs2297087
|
0.23055
|
NM_000264.5(PTCH1):c.1504-51C>G
|
rs574688
|
0.19156
|
NM_000264.3(PTCH1):c.-8727A>T
|
rs28704635
|
0.16898
|
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)
|
rs2066836
|
0.15395
|
NM_000264.5(PTCH1):c.395-231T>C
|
rs2282041
|
0.12136
|
NM_000264.5(PTCH1):c.395-276_395-275insT
|
rs3215874
|
0.11241
|
NM_000264.5(PTCH1):c.395-172T>C
|
rs2282040
|
0.10585
|
NM_000264.5(PTCH1):c.584+177G>A
|
rs28673156
|
0.10583
|
NM_000264.5(PTCH1):c.3449+129A>G
|
rs28583690
|
0.09835
|
NM_001083603.3(PTCH1):c.198+492G>A
|
rs113154802
|
0.08053
|
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.3805-225C>T
|
rs77789632
|
0.05529
|
NM_000264.5(PTCH1):c.*1373G>C
|
rs16909865
|
0.05498
|
NM_000264.5(PTCH1):c.1067+74A>G
|
rs55706201
|
0.04737
|
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000264.5(PTCH1):c.3307-66G>C
|
rs2274690
|
0.04654
|
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.2703+282G>A
|
rs28441412
|
0.03255
|
NM_000264.5(PTCH1):c.*1702C>T
|
rs115675849
|
0.02824
|
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)
|
rs73527759
|
0.02608
|
NM_000264.5(PTCH1):c.3307-152G>A
|
rs55989544
|
0.02262
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000264.5(PTCH1):c.3805-197T>A
|
rs76562151
|
0.02086
|
NM_000264.5(PTCH1):c.201+119T>A
|
rs28475503
|
0.02067
|
NM_000264.5(PTCH1):c.*231T>C
|
rs28401363
|
0.01898
|
NM_000264.5(PTCH1):c.*1+229G>A
|
rs111532669
|
0.01820
|
NM_000264.5(PTCH1):c.2888-271G>A
|
rs56163504
|
0.01758
|
NM_000264.5(PTCH1):c.1602+181A>G
|
rs2277183
|
0.01724
|
NM_000264.5(PTCH1):c.1216-201C>T
|
rs56319001
|
0.01623
|
NM_001083603.3(PTCH1):c.-86A>T
|
rs142761971
|
0.01556
|
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.1603-246C>T
|
rs76556801
|
0.01196
|
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)
|
rs138240178
|
0.01089
|
NC_000009.12:g.95517108C>T
|
rs151039474
|
0.01024
|
NM_001083603.3(PTCH1):c.-132G>A
|
rs118133906
|
0.01024
|
NM_000264.5(PTCH1):c.*1+37A>G
|
rs56237839
|
0.00987
|
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)
|
rs2227968
|
0.00959
|
NM_000264.5(PTCH1):c.945+112G>A
|
rs45619434
|
0.00892
|
NM_000264.5(PTCH1):c.3306+316C>T
|
rs73654562
|
0.00882
|
NM_000264.5(PTCH1):c.1215+143C>T
|
rs55986818
|
0.00871
|
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)
|
rs2066830
|
0.00827
|
NM_000264.5(PTCH1):c.1215+212A>G
|
rs56372911
|
0.00776
|
NM_000264.5(PTCH1):c.1067+299C>T
|
rs55773343
|
0.00754
|
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
|
rs202111971
|
0.00732
|
NM_000264.5(PTCH1):c.1729-197G>C
|
rs147497556
|
0.00682
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_000264.5(PTCH1):c.394+71A>G
|
rs554272795
|
0.00546
|
NM_000264.5(PTCH1):c.-267C>T
|
rs562807559
|
0.00538
|
NM_000264.5(PTCH1):c.*85G>A
|
rs147428149
|
0.00500
|
NM_000264.5(PTCH1):c.394+215G>C
|
rs569338456
|
0.00473
|
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)
|
rs58629309
|
0.00466
|
NM_000264.5(PTCH1):c.3805-166G>A
|
rs56222079
|
0.00437
|
NM_000264.5(PTCH1):c.1729-322C>T
|
rs140080993
|
0.00436
|
NM_000264.5(PTCH1):c.-341A>C
|
rs551570374
|
0.00432
|
NM_000264.5(PTCH1):c.2703+255G>A
|
rs77421950
|
0.00409
|
NM_000264.5(PTCH1):c.3450-132T>G
|
rs56386406
|
0.00393
|
NM_000264.5(PTCH1):c.3550-159_3550-157dup
|
rs55761380
|
0.00391
|
NM_000264.5(PTCH1):c.2887+182C>T
|
rs55787302
|
0.00384
|
NM_000264.5(PTCH1):c.3549+135G>A
|
rs55758638
|
0.00383
|
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)
|
rs111446700
|
0.00379
|
NM_000264.5(PTCH1):c.585-63C>T
|
rs2066833
|
0.00377
|
NM_000264.5(PTCH1):c.3549+38G>T
|
rs200210856
|
0.00330
|
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)
|
rs182045135
|
0.00128
|
NM_000264.5(PTCH1):c.*1+245G>A
|
rs189547730
|
0.00118
|
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn)
|
rs56173896
|
0.00088
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_000264.5(PTCH1):c.2888-44C>T
|
rs45602737
|
0.00075
|
NM_000264.5(PTCH1):c.3805-9C>T
|
rs2236404
|
0.00072
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)
|
rs145196322
|
0.00065
|
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
NM_000264.5(PTCH1):c.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.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_000264.5(PTCH1):c.945+20G>A
|
rs374618901
|
0.00040
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)
|
rs149398794
|
0.00021
|
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=)
|
rs577742581
|
0.00020
|
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn)
|
rs148367880
|
0.00019
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
NM_000264.5(PTCH1):c.567T>C (p.His189=)
|
rs150759973
|
0.00016
|
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)
|
rs138154222
|
0.00014
|
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)
|
rs149667902
|
0.00014
|
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)
|
rs369882883
|
0.00014
|
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=)
|
rs144512837
|
0.00013
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu)
|
rs141939274
|
0.00012
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His)
|
rs779365332
|
0.00010
|
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)
|
rs200100952
|
0.00010
|
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser)
|
rs201174718
|
0.00009
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)
|
rs767792734
|
0.00007
|
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu)
|
rs370755364
|
0.00007
|
NM_000264.5(PTCH1):c.3449+11G>A
|
rs568528640
|
0.00006
|
NM_000264.5(PTCH1):c.2704-11C>T
|
rs779097397
|
0.00005
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln)
|
rs375628555
|
0.00004
|
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=)
|
rs375588552
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.624G>A (p.Glu208=)
|
rs777231059
|
0.00004
|
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=)
|
rs141016655
|
0.00003
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
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.4087G>A (p.Gly1363Ser)
|
rs767625820
|
0.00003
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000264.5(PTCH1):c.237G>A (p.Leu79=)
|
rs547602299
|
0.00002
|
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=)
|
rs142362404
|
0.00002
|
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)
|
rs760902564
|
0.00002
|
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=)
|
rs143974523
|
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.3987G>A (p.Gly1329=)
|
rs539319573
|
0.00002
|
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu)
|
rs571030658
|
0.00002
|
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln)
|
rs773676486
|
0.00002
|
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)
|
rs150696398
|
0.00002
|
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)
|
rs767601899
|
0.00002
|
NM_000264.5(PTCH1):c.1153A>G (p.Ile385Val)
|
rs977358021
|
0.00001
|
NM_000264.5(PTCH1):c.1218G>A (p.Val406=)
|
rs753586235
|
0.00001
|
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)
|
rs752530755
|
0.00001
|
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=)
|
rs774841100
|
0.00001
|
NM_000264.5(PTCH1):c.1503+19A>T
|
rs201193230
|
0.00001
|
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met)
|
rs575035810
|
0.00001
|
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile)
|
rs529720410
|
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.3034G>A (p.Gly1012Ser)
|
rs187813269
|
0.00001
|
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)
|
rs370150142
|
0.00001
|
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala)
|
rs746275162
|
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.3292G>A (p.Val1098Ile)
|
rs748726158
|
0.00001
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)
|
rs769691754
|
0.00001
|
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)
|
rs766037357
|
0.00001
|
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val)
|
rs369265532
|
0.00001
|
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)
|
rs571420165
|
0.00001
|
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)
|
rs945517672
|
0.00001
|
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)
|
rs375857496
|
0.00001
|
NM_000264.5(PTCH1):c.3804+6T>G
|
rs1298248967
|
0.00001
|
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=)
|
rs752197356
|
0.00001
|
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)
|
rs786204201
|
0.00001
|
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)
|
rs1057524645
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=)
|
rs748440992
|
0.00001
|
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)
|
rs139535966
|
0.00001
|
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter)
|
rs1297685477
|
0.00001
|
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)
|
rs786204094
|
0.00001
|
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys)
|
rs587780705
|
0.00001
|
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser)
|
rs751024812
|
0.00001
|
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)
|
rs770046324
|
0.00001
|
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)
|
rs587780707
|
0.00001
|
NC_000009.12:g.95517248G>C
|
rs188897755
|
|
NM_000264.5(PTCH1):c.*1+20dup
|
rs1064796211
|
|
NM_000264.5(PTCH1):c.*2-1G>A
|
|
|
NM_000264.5(PTCH1):c.*664dup
|
rs111365480
|
|
NM_000264.5(PTCH1):c.1067+107G>A
|
rs55873843
|
|
NM_000264.5(PTCH1):c.1068-1G>A
|
rs1085307752
|
|
NM_000264.5(PTCH1):c.1086dup (p.Met363fs)
|
rs1064793474
|
|
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val)
|
rs1342698215
|
|
NM_000264.5(PTCH1):c.1119C>G (p.Tyr373Ter)
|
rs2066831
|
|
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu)
|
rs1463870316
|
|
NM_000264.5(PTCH1):c.1164C>A (p.Asn388Lys)
|
rs201602238
|
|
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=)
|
rs2118365117
|
|
NM_000264.5(PTCH1):c.1195T>A (p.Trp399Arg)
|
rs2118364438
|
|
NM_000264.5(PTCH1):c.1215+15G>T
|
rs781602634
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1267A>C (p.Thr423Pro)
|
|
|
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg)
|
rs1588602538
|
|
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000264.5(PTCH1):c.1348-2A>G
|
rs1064793978
|
|
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs)
|
rs1554698587
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg)
|
rs2118303660
|
|
NM_000264.5(PTCH1):c.1503+1G>C
|
rs864622293
|
|
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1504-1G>C
|
rs1057518400
|
|
NM_000264.5(PTCH1):c.1504-3T>C
|
rs1588598721
|
|
NM_000264.5(PTCH1):c.1544T>A (p.Val515Asp)
|
rs1057518491
|
|
NM_000264.5(PTCH1):c.1581G>T (p.Gln527His)
|
rs2118280777
|
|
NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter)
|
rs780434261
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1603-2A>G
|
rs1064793921
|
|
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg)
|
rs1347882326
|
|
NM_000264.5(PTCH1):c.1615dup (p.Glu539fs)
|
rs878853847
|
|
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)
|
rs137903539
|
|
NM_000264.5(PTCH1):c.1665_1666inv (p.Val556Ile)
|
|
|
NM_000264.5(PTCH1):c.1687G>T (p.Ala563Ser)
|
rs146616780
|
|
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.201+101T>A
|
rs79663574
|
|
NM_000264.5(PTCH1):c.201+103AC[6]
|
rs962367211
|
|
NM_000264.5(PTCH1):c.201+115_201+122del
|
rs71366292
|
|
NM_000264.5(PTCH1):c.201+119_201+120del
|
rs369915085
|
|
NM_000264.5(PTCH1):c.201+123_201+126del
|
rs139100790
|
|
NM_000264.5(PTCH1):c.201+242GT[8]
|
rs139956254
|
|
NM_000264.5(PTCH1):c.201+242GT[9]
|
rs139956254
|
|
NM_000264.5(PTCH1):c.201+272T>C
|
rs1355619
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
NM_000264.5(PTCH1):c.2561-1G>A
|
rs1131691700
|
|
NM_000264.5(PTCH1):c.2561-207C>G
|
rs28698995
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val)
|
rs2136689015
|
|
NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter)
|
rs1131691758
|
|
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)
|
rs1064796618
|
|
NM_000264.5(PTCH1):c.2704-69C>A
|
rs1189467853
|
|
NM_000264.5(PTCH1):c.2712dup (p.Gln905fs)
|
rs143091773
|
|
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=)
|
rs1588544909
|
|
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter)
|
rs1587693544
|
|
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
|
rs1839290937
|
|
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe)
|
rs1839284772
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer)
|
rs1064793991
|
|
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.2888-284del
|
rs56213847
|
|
NM_000264.5(PTCH1):c.2888-8C>T
|
rs567994836
|
|
NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter)
|
rs886041943
|
|
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)
|
rs886039540
|
|
NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)
|
rs886039678
|
|
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
|
|
|
NM_000264.5(PTCH1):c.3169-1G>A
|
rs1060502285
|
|
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met)
|
rs1838934517
|
|
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.3314dup (p.Thr1106fs)
|
rs1554690484
|
|
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)
|
rs1838662287
|
|
NM_000264.5(PTCH1):c.3393G>T (p.Val1131=)
|
rs1267662604
|
|
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg)
|
rs1838655420
|
|
NM_000264.5(PTCH1):c.3457T>C (p.Phe1153Leu)
|
|
|
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3550-115G>T
|
rs56021411
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3605C>T (p.Pro1202Leu)
|
rs374097441
|
|
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly)
|
rs1588516924
|
|
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)
|
rs150850039
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3886G>T (p.Gly1296Ter)
|
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
|
|
NM_000264.5(PTCH1):c.394+212C>A
|
rs191867316
|
|
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)
|
rs357564
|
|
NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)
|
|
|
NM_000264.5(PTCH1):c.395-82T>A
|
rs2118555124
|
|
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)
|
|
|
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)
|
rs1554688549
|
|
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.4014_4034del (p.Trp1339_Arg1345del)
|
rs774819810
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
|
rs1131690986
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=)
|
rs1057521043
|
|
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs)
|
rs1588510168
|
|
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
|
|
|
NM_000264.5(PTCH1):c.4294C>T (p.Leu1432=)
|
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.451del (p.Ala151fs)
|
rs2118547596
|
|
NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter)
|
rs1064796259
|
|
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val)
|
rs1841917213
|
|
NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
|
rs1841912540
|
|
NM_000264.5(PTCH1):c.548T>C (p.Leu183Pro)
|
|
|
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del)
|
rs1554702032
|
|
NM_000264.5(PTCH1):c.585-17_585-13del
|
rs776103507
|
|
NM_000264.5(PTCH1):c.585-1G>C
|
rs1057520590
|
|
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)
|
rs1064793922
|
|
NM_000264.5(PTCH1):c.606del (p.Leu202fs)
|
rs1064794117
|
|
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)
|
rs1554700647
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs)
|
rs1554699969
|
|
NM_000264.5(PTCH1):c.822del (p.Val275fs)
|
rs1554699964
|
|
NM_000264.5(PTCH1):c.833G>A (p.Trp278Ter)
|
|
|
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
|
|
|
NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
|
rs1588610088
|
|
NM_000264.5(PTCH1):c.910T>A (p.Cys304Ser)
|
|
|
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala)
|
rs2118411651
|
|
NM_000264.5(PTCH1):c.945+3_945+6del
|
rs1064795637
|
|
NM_000264.5(PTCH1):c.945+9C>T
|
rs878853860
|
|
NM_000264.5(PTCH1):c.946-5T>A
|
rs1588608882
|
|
NM_001083603.3(PTCH1):c.157G>T (p.Glu53Ter)
|
rs185570125
|
|