NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala)
|
rs1463935039
|
0.00019
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)
|
rs138034434
|
0.00011
|
NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met)
|
rs1456450494
|
0.00009
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile)
|
rs376084632
|
0.00007
|
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)
|
rs537871675
|
0.00006
|
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp)
|
rs139942632
|
0.00006
|
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg)
|
rs763941524
|
0.00004
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)
|
rs749542089
|
0.00004
|
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)
|
rs762040036
|
0.00004
|
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys)
|
rs749244396
|
0.00004
|
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln)
|
rs375628555
|
0.00004
|
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn)
|
rs745451899
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr)
|
rs753960393
|
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.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)
|
rs202052415
|
0.00003
|
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val)
|
rs374187104
|
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.4144C>T (p.His1382Tyr)
|
rs377484697
|
0.00003
|
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg)
|
rs1060502276
|
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.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)
|
rs1421967825
|
0.00003
|
NM_000264.5(PTCH1):c.947C>A (p.Pro316His)
|
rs143813198
|
0.00003
|
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)
|
rs779294007
|
0.00002
|
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr)
|
rs779204091
|
0.00002
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)
|
rs937023804
|
0.00002
|
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His)
|
rs1349048226
|
0.00002
|
NM_000264.5(PTCH1):c.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.254G>A (p.Arg85Lys)
|
rs151310492
|
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.3124G>A (p.Val1042Met)
|
rs772406487
|
0.00002
|
NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile)
|
rs577110118
|
0.00002
|
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val)
|
rs914090288
|
0.00002
|
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met)
|
rs781080456
|
0.00002
|
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr)
|
rs759791227
|
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.4030G>T (p.Ala1344Ser)
|
rs765017975
|
0.00002
|
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)
|
rs766315655
|
0.00002
|
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met)
|
rs745337014
|
0.00002
|
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu)
|
rs766849993
|
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.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.1001A>G (p.Tyr334Cys)
|
rs1841406856
|
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.1099A>G (p.Met367Val)
|
rs753152792
|
0.00001
|
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg)
|
rs768024586
|
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.1138G>A (p.Glu380Lys)
|
rs772903899
|
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.1216G>A (p.Val406Met)
|
rs756949381
|
0.00001
|
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala)
|
rs952195482
|
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.1298C>A (p.Ser433Tyr)
|
rs778455544
|
0.00001
|
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)
|
rs752530755
|
0.00001
|
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)
|
rs767273237
|
0.00001
|
NM_000264.5(PTCH1):c.1345A>G (p.Met449Val)
|
rs1423684260
|
0.00001
|
NM_000264.5(PTCH1):c.1347+5C>T
|
rs567257548
|
0.00001
|
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg)
|
rs756171491
|
0.00001
|
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr)
|
rs1398130707
|
0.00001
|
NM_000264.5(PTCH1):c.1504-4del
|
rs1182409968
|
0.00001
|
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr)
|
rs745669155
|
0.00001
|
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg)
|
rs758673714
|
0.00001
|
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)
|
rs150284288
|
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.1669A>G (p.Thr557Ala)
|
rs772312984
|
0.00001
|
NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly)
|
rs1340609158
|
0.00001
|
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly)
|
rs1296707371
|
0.00001
|
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser)
|
rs997156828
|
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.2676C>G (p.Ser892Arg)
|
rs1427672162
|
0.00001
|
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)
|
rs765371196
|
0.00001
|
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn)
|
rs762152128
|
0.00001
|
NM_000264.5(PTCH1):c.2704-3T>C
|
rs1208489068
|
0.00001
|
NM_000264.5(PTCH1):c.2704-5T>C
|
rs1023491715
|
0.00001
|
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His)
|
rs764310195
|
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.2839G>C (p.Glu947Gln)
|
rs768039033
|
0.00001
|
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn)
|
rs1588544328
|
0.00001
|
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)
|
rs377120922
|
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.295G>T (p.Gly99Cys)
|
rs1036074195
|
0.00001
|
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys)
|
rs1472299295
|
0.00001
|
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn)
|
rs769866360
|
0.00001
|
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser)
|
rs780425276
|
0.00001
|
NM_000264.5(PTCH1):c.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.311T>C (p.Val104Ala)
|
rs746275162
|
0.00001
|
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu)
|
rs1420175816
|
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.3220A>G (p.Ile1074Val)
|
rs745626835
|
0.00001
|
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val)
|
rs1338490449
|
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.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser)
|
rs1344231723
|
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.3388G>A (p.Ala1130Thr)
|
rs766037357
|
0.00001
|
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val)
|
rs369265532
|
0.00001
|
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr)
|
rs1838650766
|
0.00001
|
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys)
|
rs1838317135
|
0.00001
|
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu)
|
rs368636457
|
0.00001
|
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)
|
rs147633236
|
0.00001
|
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)
|
rs371346118
|
0.00001
|
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val)
|
rs772200521
|
0.00001
|
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser)
|
rs767535853
|
0.00001
|
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)
|
rs571420165
|
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.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.3706G>A (p.Glu1236Lys)
|
rs779844193
|
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.3787G>A (p.Val1263Ile)
|
rs752831580
|
0.00001
|
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg)
|
rs1445693994
|
0.00001
|
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp)
|
rs1838051752
|
0.00001
|
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg)
|
rs372828014
|
0.00001
|
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg)
|
rs181585555
|
0.00001
|
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)
|
rs1057524645
|
0.00001
|
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)
|
rs1400282737
|
0.00001
|
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp)
|
rs1394160194
|
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.4055C>G (p.Pro1352Arg)
|
rs1022984391
|
0.00001
|
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)
|
rs777096311
|
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.413G>A (p.Arg138His)
|
rs763774051
|
0.00001
|
NM_000264.5(PTCH1):c.4160C>T (p.Pro1387Leu)
|
rs552921967
|
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.4289T>C (p.Ile1430Thr)
|
rs556722778
|
0.00001
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
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.451G>T (p.Ala151Ser)
|
rs751024812
|
0.00001
|
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser)
|
rs369105527
|
0.00001
|
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)
|
rs770046324
|
0.00001
|
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)
|
rs587780707
|
0.00001
|
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala)
|
rs1244945859
|
0.00001
|
NM_000264.5(PTCH1):c.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.637A>G (p.Thr213Ala)
|
rs1588614533
|
0.00001
|
NM_000264.5(PTCH1):c.646A>G (p.Met216Val)
|
rs587780709
|
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.728C>T (p.Ser243Phe)
|
rs141265422
|
0.00001
|
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn)
|
rs765174527
|
0.00001
|
NM_000264.5(PTCH1):c.832T>G (p.Trp278Gly)
|
rs1219459429
|
0.00001
|
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr)
|
rs1588610162
|
0.00001
|
NM_000264.5(PTCH1):c.881G>A (p.Arg294His)
|
rs878853859
|
0.00001
|
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser)
|
rs745669231
|
0.00001
|
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)
|
rs1487227339
|
0.00001
|
NM_000264.5(PTCH1):c.907G>C (p.Asp303His)
|
rs1172719429
|
0.00001
|
NM_000264.5(PTCH1):c.916G>A (p.Ala306Thr)
|
rs547776340
|
0.00001
|
NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile)
|
rs1255733467
|
0.00001
|
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu)
|
rs762382517
|
0.00001
|
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val)
|
rs1380199153
|
0.00001
|
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr)
|
rs867609005
|
0.00001
|
NM_001083603.3(PTCH1):c.41C>T (p.Pro14Leu)
|
rs369865916
|
0.00001
|
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
|
|
|
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000264.5(PTCH1):c.1014_1015insTTGCAG (p.Gln338_Glu339insLeuGln)
|
rs2118391482
|
|
NM_000264.5(PTCH1):c.1034G>A (p.Gly345Asp)
|
|
|
NM_000264.5(PTCH1):c.1044G>T (p.Lys348Asn)
|
|
|
NM_000264.5(PTCH1):c.1045A>G (p.Asn349Asp)
|
rs1588608348
|
|
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
|
|
|
NM_000264.5(PTCH1):c.1054G>A (p.Gly352Arg)
|
|
|
NM_000264.5(PTCH1):c.1060C>A (p.Leu354Ile)
|
rs1588608286
|
|
NM_000264.5(PTCH1):c.1063G>C (p.Val355Leu)
|
|
|
NM_000264.5(PTCH1):c.1067+5G>T
|
rs372657547
|
|
NM_000264.5(PTCH1):c.1072C>T (p.His358Tyr)
|
|
|
NM_000264.5(PTCH1):c.1073A>G (p.His358Arg)
|
|
|
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.1124A>T (p.His375Leu)
|
|
|
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu)
|
rs1588605721
|
|
NM_000264.5(PTCH1):c.1131G>T (p.Lys377Asn)
|
|
|
NM_000264.5(PTCH1):c.1132G>A (p.Gly378Arg)
|
|
|
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu)
|
rs1463870316
|
|
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His)
|
rs1554699212
|
|
NM_000264.5(PTCH1):c.1152C>A (p.His384Gln)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser)
|
rs1564053157
|
|
NM_000264.5(PTCH1):c.1162A>C (p.Asn388His)
|
|
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1168G>T (p.Asp390Tyr)
|
rs1588605451
|
|
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val)
|
rs2118364801
|
|
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)
|
rs371424684
|
|
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys)
|
rs1588605278
|
|
NM_000264.5(PTCH1):c.1211T>C (p.Val404Ala)
|
|
|
NM_000264.5(PTCH1):c.1215+4A>T
|
|
|
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
|
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1229G>A (p.Ser410Asn)
|
|
|
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys)
|
rs1588602943
|
|
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile)
|
rs201174718
|
|
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg)
|
rs1060502270
|
|
NM_000264.5(PTCH1):c.1250A>T (p.Gln417Leu)
|
|
|
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
|
|
|
NM_000264.5(PTCH1):c.1256T>G (p.Val419Gly)
|
|
|
NM_000264.5(PTCH1):c.1257G>A (p.Val419=)
|
rs1060504535
|
|
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe)
|
rs1285775586
|
|
NM_000264.5(PTCH1):c.1270A>G (p.Thr424Ala)
|
|
|
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
|
|
|
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
|
|
|
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1284C>A (p.Asp428Glu)
|
|
|
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1288A>G (p.Ile430Val)
|
|
|
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
|
|
|
NM_000264.5(PTCH1):c.1301_1303del (p.Phe434del)
|
|
|
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
|
|
|
NM_000264.5(PTCH1):c.1309G>A (p.Val437Ile)
|
rs1293146883
|
|
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly)
|
rs2118331535
|
|
NM_000264.5(PTCH1):c.1313G>A (p.Ser438Asn)
|
|
|
NM_000264.5(PTCH1):c.1315G>A (p.Val439Ile)
|
|
|
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
|
|
|
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)
|
rs759493890
|
|
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser)
|
rs2118329828
|
|
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1354T>A (p.Tyr452Asn)
|
|
|
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys)
|
rs1255345516
|
|
NM_000264.5(PTCH1):c.1361G>A (p.Cys454Tyr)
|
|
|
NM_000264.5(PTCH1):c.1367C>G (p.Thr456Ser)
|
|
|
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
|
|
|
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser)
|
rs1588600865
|
|
NM_000264.5(PTCH1):c.1388C>T (p.Ser463Phe)
|
|
|
NM_000264.5(PTCH1):c.1393T>C (p.Ser465Pro)
|
|
|
NM_000264.5(PTCH1):c.1397A>G (p.Gln466Arg)
|
|
|
NM_000264.5(PTCH1):c.1399G>A (p.Gly467Ser)
|
|
|
NM_000264.5(PTCH1):c.1402G>A (p.Ala468Thr)
|
|
|
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met)
|
rs1438523462
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1451G>C (p.Gly484Ala)
|
|
|
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met)
|
rs768183391
|
|
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala)
|
rs1057515719
|
|
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
|
|
|
NM_000264.5(PTCH1):c.1493C>T (p.Ala498Val)
|
|
|
NM_000264.5(PTCH1):c.1534G>A (p.Val512Met)
|
|
|
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile)
|
rs2118283531
|
|
NM_000264.5(PTCH1):c.1544T>C (p.Val515Ala)
|
|
|
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe)
|
rs2118283054
|
|
NM_000264.5(PTCH1):c.1555G>T (p.Ala519Ser)
|
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val)
|
rs755139183
|
|
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly)
|
rs2118281828
|
|
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)
|
rs751778283
|
|
NM_000264.5(PTCH1):c.1582A>C (p.Asn528His)
|
|
|
NM_000264.5(PTCH1):c.1584T>A (p.Asn528Lys)
|
|
|
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu)
|
rs780434261
|
|
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr)
|
rs1227526379
|
|
NM_000264.5(PTCH1):c.1594C>T (p.Pro532Ser)
|
|
|
NM_000264.5(PTCH1):c.1597T>G (p.Phe533Val)
|
|
|
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1598T>G (p.Phe533Cys)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1602+5T>C
|
|
|
NM_000264.5(PTCH1):c.1603-3C>A
|
|
|
NM_000264.5(PTCH1):c.1617G>C (p.Glu539Asp)
|
|
|
NM_000264.5(PTCH1):c.161G>C (p.Ser54Thr)
|
|
|
NM_000264.5(PTCH1):c.1627C>G (p.Arg543Gly)
|
|
|
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)
|
rs137903539
|
|
NM_000264.5(PTCH1):c.164A>C (p.Tyr55Ser)
|
|
|
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
|
|
|
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)
|
rs1318405179
|
|
NM_000264.5(PTCH1):c.166T>A (p.Cys56Ser)
|
|
|
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr)
|
rs2118253278
|
|
NM_000264.5(PTCH1):c.1678T>A (p.Phe560Ile)
|
|
|
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
|
|
|
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val)
|
rs1332335605
|
|
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
|
|
|
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr)
|
rs146616780
|
|
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val)
|
rs778170244
|
|
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val)
|
rs200504753
|
|
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr)
|
rs753240797
|
|
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val)
|
rs1485556285
|
|
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe)
|
rs1841002219
|
|
NM_000264.5(PTCH1):c.1728+3G>C
|
rs1588596061
|
|
NM_000264.5(PTCH1):c.1728+5G>A
|
|
|
NM_000264.5(PTCH1):c.175G>A (p.Ala59Thr)
|
rs147738224
|
|
NM_000264.5(PTCH1):c.175G>T (p.Ala59Ser)
|
|
|
NM_000264.5(PTCH1):c.176C>T (p.Ala59Val)
|
|
|
NM_000264.5(PTCH1):c.181G>T (p.Ala61Ser)
|
|
|
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
|
|
|
NM_000264.5(PTCH1):c.190_192del (p.Gln64del)
|
|
|
NM_000264.5(PTCH1):c.192G>C (p.Gln64His)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
|
|
|
NM_000264.5(PTCH1):c.193A>G (p.Ile65Val)
|
|
|
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
|
|
|
NM_000264.5(PTCH1):c.199A>G (p.Lys67Glu)
|
|
|
NM_000264.5(PTCH1):c.201+5A>G
|
rs1843883183
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000264.5(PTCH1):c.211A>G (p.Thr71Ala)
|
|
|
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
|
|
|
NM_000264.5(PTCH1):c.215G>T (p.Gly72Val)
|
|
|
NM_000264.5(PTCH1):c.218G>C (p.Arg73Pro)
|
|
|
NM_000264.5(PTCH1):c.222A>C (p.Lys74Asn)
|
|
|
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr)
|
rs997156828
|
|
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
|
|
|
NM_000264.5(PTCH1):c.240A>C (p.Arg80Ser)
|
|
|
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr)
|
rs2118880380
|
|
NM_000264.5(PTCH1):c.241G>C (p.Ala81Pro)
|
|
|
NM_000264.5(PTCH1):c.244A>G (p.Lys82Glu)
|
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.2561-5T>C
|
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NM_000264.5(PTCH1):c.2561G>A (p.Gly854Glu)
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NM_000264.5(PTCH1):c.256C>T (p.Leu86Phe)
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NM_000264.5(PTCH1):c.2570A>C (p.Asp857Ala)
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NM_000264.5(PTCH1):c.2570A>T (p.Asp857Val)
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NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser)
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rs1703756604
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NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
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NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn)
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rs2136689511
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NM_000264.5(PTCH1):c.2589G>C (p.Trp863Cys)
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NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys)
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rs1277861627
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NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu)
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rs863224651
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NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys)
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rs1345518847
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NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile)
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rs2136688957
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NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
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NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His)
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rs2136688723
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NM_000264.5(PTCH1):c.262T>C (p.Phe88Leu)
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NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)
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rs771732591
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NM_000264.5(PTCH1):c.263T>A (p.Phe88Tyr)
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NM_000264.5(PTCH1):c.2654A>G (p.Lys885Arg)
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NM_000264.5(PTCH1):c.2654A>T (p.Lys885Ile)
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rs1272128871
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NM_000264.5(PTCH1):c.2662G>A (p.Val888Met)
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NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
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rs1839507201
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NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg)
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rs1843661629
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NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
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NM_000264.5(PTCH1):c.2691C>G (p.Ile897Met)
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rs1055193050
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NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met)
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rs1588551373
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NM_000264.5(PTCH1):c.2704-2A>G
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NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
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NM_000264.5(PTCH1):c.2707A>T (p.Thr903Ser)
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NM_000264.5(PTCH1):c.270_271delinsAA (p.Gly91Ser)
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NM_000264.5(PTCH1):c.2716C>G (p.Arg906Gly)
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rs1588545099
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NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys)
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rs1588545099
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NM_000264.5(PTCH1):c.271G>A (p.Gly91Ser)
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NM_000264.5(PTCH1):c.2731G>T (p.Asp911Tyr)
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NM_000264.5(PTCH1):c.2732A>G (p.Asp911Gly)
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NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu)
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rs1839296987
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NM_000264.5(PTCH1):c.2738T>C (p.Ile913Thr)
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NM_000264.5(PTCH1):c.2746C>T (p.Pro916Ser)
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NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile)
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rs1588544954
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NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr)
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rs2136672620
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NM_000264.5(PTCH1):c.2757C>A (p.Phe919Leu)
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NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
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NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
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NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met)
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rs1564021738
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NM_000264.5(PTCH1):c.2767C>G (p.Leu923Val)
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NM_000264.5(PTCH1):c.2772G>A (p.Thr924=)
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rs1554691694
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NM_000264.5(PTCH1):c.2774C>T (p.Ala925Val)
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NM_000264.5(PTCH1):c.2779G>A (p.Val927Ile)
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rs1554691693
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NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
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NM_000264.5(PTCH1):c.2781C>G (p.Val927=)
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rs2136671987
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NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr)
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rs1554691690
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NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
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NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
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rs1839290937
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NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val)
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rs768558478
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NM_000264.5(PTCH1):c.2801A>G (p.Tyr934Cys)
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NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe)
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rs1209943415
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NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro)
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rs1554691676
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NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser)
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rs1588544538
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NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
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rs1843660253
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NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser)
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rs749406453
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NM_000264.5(PTCH1):c.281T>G (p.Ile94Ser)
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rs1587693521
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NM_000264.5(PTCH1):c.2822T>A (p.Ile941Asn)
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NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met)
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rs1839283096
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NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)
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rs767225445
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NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro)
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rs767225445
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NM_000264.5(PTCH1):c.2827C>A (p.Pro943Thr)
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NM_000264.5(PTCH1):c.2830C>G (p.His944Asp)
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NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr)
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rs1588544426
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NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)
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NM_000264.5(PTCH1):c.2834G>C (p.Arg945Pro)
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NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr)
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rs1588544328
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NM_000264.5(PTCH1):c.2854A>G (p.Lys952Glu)
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NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
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rs1839276876
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NM_000264.5(PTCH1):c.2867T>C (p.Met956Thr)
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NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile)
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rs761501958
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NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser)
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rs1839275609
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NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg)
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rs1376533047
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NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
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NM_000264.5(PTCH1):c.2882T>C (p.Leu961Pro)
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rs1588544210
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NM_000264.5(PTCH1):c.2887+4A>C
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rs1588544193
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NM_000264.5(PTCH1):c.2887+4A>G
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rs1588544193
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NM_000264.5(PTCH1):c.2887+5G>A
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NM_000264.5(PTCH1):c.2888-3C>G
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NM_000264.5(PTCH1):c.2888-5T>A
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NM_000264.5(PTCH1):c.2903C>T (p.Pro968Leu)
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NM_000264.5(PTCH1):c.2905A>G (p.Ile969Val)
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NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys)
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rs1201956507
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NM_000264.5(PTCH1):c.291C>A (p.Asn97Lys)
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NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
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NM_000264.5(PTCH1):c.2924C>T (p.Pro975Leu)
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rs2136662526
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NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu)
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rs1588540820
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NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro)
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rs863224652
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NM_000264.5(PTCH1):c.2935A>C (p.Asn979His)
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rs1588540767
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NM_000264.5(PTCH1):c.2942T>C (p.Leu981Ser)
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NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly)
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rs867973996
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NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
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NM_000264.5(PTCH1):c.2948A>T (p.Asp983Val)
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NM_000264.5(PTCH1):c.2968G>A (p.Ala990Thr)
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NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
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rs753884837
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NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val)
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rs1189382722
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NM_000264.5(PTCH1):c.2987C>T (p.Thr996Ile)
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NM_000264.5(PTCH1):c.2990T>C (p.Ile997Thr)
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NM_000264.5(PTCH1):c.3013G>A (p.Gly1005Arg)
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NM_000264.5(PTCH1):c.3016C>A (p.Leu1006Met)
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NM_000264.5(PTCH1):c.3033C>A (p.Asn1011Lys)
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NM_000264.5(PTCH1):c.3033C>G (p.Asn1011Lys)
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NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser)
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rs1588540255
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NM_000264.5(PTCH1):c.3043T>A (p.Phe1015Ile)
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NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe)
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rs374575067
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NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)
|
rs1003711941
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NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
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rs1003711941
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NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala)
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rs1588540060
|
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NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe)
|
rs199522392
|
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NM_000264.5(PTCH1):c.3070C>T (p.Leu1024Phe)
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NM_000264.5(PTCH1):c.3083T>A (p.Leu1028Gln)
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NM_000264.5(PTCH1):c.3091T>G (p.Phe1031Val)
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NM_000264.5(PTCH1):c.3098G>C (p.Ser1033Thr)
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rs1588539911
|
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NM_000264.5(PTCH1):c.3099C>G (p.Ser1033Arg)
|
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NM_000264.5(PTCH1):c.3100G>T (p.Val1034Leu)
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NM_000264.5(PTCH1):c.3103G>C (p.Val1035Leu)
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NM_000264.5(PTCH1):c.3104T>G (p.Val1035Gly)
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NM_000264.5(PTCH1):c.3106T>G (p.Leu1036Val)
|
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NM_000264.5(PTCH1):c.3112T>G (p.Cys1038Gly)
|
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NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
|
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NM_000264.5(PTCH1):c.3129C>G (p.Cys1043Trp)
|
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NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)
|
rs138458710
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NM_000264.5(PTCH1):c.3130G>T (p.Ala1044Ser)
|
|
|
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
|
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NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys)
|
rs1839099591
|
|
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile)
|
rs1053698119
|
|
NM_000264.5(PTCH1):c.3139C>G (p.Leu1047Val)
|
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|
NM_000264.5(PTCH1):c.3149C>G (p.Pro1050Arg)
|
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|
NM_000264.5(PTCH1):c.3155C>A (p.Thr1052Lys)
|
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|
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
|
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NM_000264.5(PTCH1):c.3166A>G (p.Ile1056Val)
|
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NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg)
|
rs1131690998
|
|
NM_000264.5(PTCH1):c.3185T>C (p.Leu1062Pro)
|
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|
NM_000264.5(PTCH1):c.3187A>T (p.Met1063Leu)
|
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|
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe)
|
rs2118876683
|
|
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3217C>A (p.Leu1073Ile)
|
|
|
NM_000264.5(PTCH1):c.321_323del (p.Ile108del)
|
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|
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
|
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|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3226A>C (p.Ile1076Leu)
|
|
|
NM_000264.5(PTCH1):c.3226A>G (p.Ile1076Val)
|
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|
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
|
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|
NM_000264.5(PTCH1):c.3244C>T (p.Pro1082Ser)
|
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|
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His)
|
rs2136648648
|
|
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe)
|
rs1838922991
|
|
NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro)
|
rs1588535542
|
|
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val)
|
rs2136648402
|
|
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu)
|
rs1843655328
|
|
NM_000264.5(PTCH1):c.3263C>A (p.Ala1088Asp)
|
|
|
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val)
|
rs1838920838
|
|
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.3272G>C (p.Gly1091Ala)
|
|
|
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
|
|
|
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met)
|
rs1227312736
|
|
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met)
|
rs1588535447
|
|
NM_000264.5(PTCH1):c.3298G>T (p.Val1100Phe)
|
|
|
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val)
|
rs1554690984
|
|
NM_000264.5(PTCH1):c.3306+4T>C
|
|
|
NM_000264.5(PTCH1):c.3307-3C>T
|
|
|
NM_000264.5(PTCH1):c.3307-4A>G
|
|
|
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser)
|
rs1838668785
|
|
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr)
|
rs777897973
|
|
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.332C>T (p.Ala111Val)
|
|
|
NM_000264.5(PTCH1):c.3330C>A (p.Asp1110Glu)
|
|
|
NM_000264.5(PTCH1):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
|
|
|
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)
|
rs1838662287
|
|
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val)
|
rs1838661361
|
|
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys)
|
rs929802114
|
|
NM_000264.5(PTCH1):c.3373C>G (p.Pro1125Ala)
|
|
|
NM_000264.5(PTCH1):c.3379C>G (p.Leu1127Val)
|
|
|
NM_000264.5(PTCH1):c.3389C>T (p.Ala1130Val)
|
rs1588528579
|
|
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
|
|
|
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)
|
rs1131690996
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.3410_3424del (p.Val1137_Ala1141del)
|
rs1554690414
|
|
NM_000264.5(PTCH1):c.3418C>G (p.Leu1140Val)
|
|
|
NM_000264.5(PTCH1):c.341T>G (p.Val114Gly)
|
|
|
NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)
|
|
|
NM_000264.5(PTCH1):c.3432G>T (p.Glu1144Asp)
|
|
|
NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)
|
|
|
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3449+3A>G
|
rs201942643
|
|
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.3470C>T (p.Ala1157Val)
|
|
|
NM_000264.5(PTCH1):c.3471G>T (p.Ala1157=)
|
|
|
NM_000264.5(PTCH1):c.3474C>G (p.Ile1158Met)
|
|
|
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro)
|
rs1588519508
|
|
NM_000264.5(PTCH1):c.3478A>G (p.Thr1160Ala)
|
|
|
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val)
|
rs202102540
|
|
NM_000264.5(PTCH1):c.3493C>G (p.Leu1165Val)
|
|
|
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser)
|
rs1271099813
|
|
NM_000264.5(PTCH1):c.3503T>A (p.Leu1168Gln)
|
|
|
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg)
|
rs1234085004
|
|
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met)
|
rs1588519372
|
|
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys)
|
rs864622160
|
|
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3549G>A (p.Glu1183=)
|
|
|
NM_000264.5(PTCH1):c.3551T>C (p.Val1184Ala)
|
|
|
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu)
|
rs1838242467
|
|
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp)
|
rs1319757275
|
|
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys)
|
rs864622621
|
|
NM_000264.5(PTCH1):c.3569T>C (p.Leu1190Ser)
|
|
|
NM_000264.5(PTCH1):c.3574C>A (p.Arg1192Ser)
|
|
|
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu)
|
rs762040036
|
|
NM_000264.5(PTCH1):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser)
|
rs1588517811
|
|
NM_000264.5(PTCH1):c.3587C>A (p.Pro1196His)
|
rs1217566464
|
|
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)
|
rs1588517764
|
|
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg)
|
rs1564008924
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3604C>A (p.Pro1202Thr)
|
|
|
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
|
|
|
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.3613G>A (p.Val1205Ile)
|
rs1588517620
|
|
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp)
|
rs775882469
|
|
NM_000264.5(PTCH1):c.3614T>C (p.Val1205Ala)
|
|
|
NM_000264.5(PTCH1):c.3616C>G (p.Arg1206Gly)
|
|
|
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.3627G>A (p.Met1209Ile)
|
rs1838227370
|
|
NM_000264.5(PTCH1):c.362T>C (p.Leu121Pro)
|
|
|
NM_000264.5(PTCH1):c.3635G>A (p.Gly1212Asp)
|
|
|
NM_000264.5(PTCH1):c.3639C>G (p.His1213Gln)
|
|
|
NM_000264.5(PTCH1):c.3640A>T (p.Thr1214Ser)
|
|
|
NM_000264.5(PTCH1):c.3643C>T (p.His1215Tyr)
|
|
|
NM_000264.5(PTCH1):c.3644A>G (p.His1215Arg)
|
|
|
NM_000264.5(PTCH1):c.364_369dup (p.Thr123_Asn124insGluThr)
|
|
|
NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys)
|
rs1167693193
|
|
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val)
|
rs2136600284
|
|
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe)
|
rs1375226181
|
|
NM_000264.5(PTCH1):c.3681_3682del (p.Gln1228fs)
|
|
|
NM_000264.5(PTCH1):c.3709G>A (p.Glu1237Lys)
|
|
|
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro)
|
rs758728491
|
|
NM_000264.5(PTCH1):c.3722A>C (p.Tyr1241Ser)
|
|
|
NM_000264.5(PTCH1):c.3727G>A (p.Ala1243Thr)
|
|
|
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)
|
rs763779667
|
|
NM_000264.5(PTCH1):c.3735_3758del (p.Gly1246_Gln1253del)
|
|
|
NM_000264.5(PTCH1):c.3736G>A (p.Gly1246Ser)
|
|
|
NM_000264.5(PTCH1):c.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.3743G>C (p.Gly1248Ala)
|
rs375857496
|
|
NM_000264.5(PTCH1):c.3743G>T (p.Gly1248Val)
|
|
|
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)
|
rs769446796
|
|
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg)
|
rs1838211042
|
|
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp)
|
rs780990429
|
|
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
|
|
|
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro)
|
rs1838210172
|
|
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg)
|
rs1838210172
|
|
NM_000264.5(PTCH1):c.3761T>C (p.Val1254Ala)
|
|
|
NM_000264.5(PTCH1):c.3766G>T (p.Val1256Leu)
|
|
|
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys)
|
rs750397931
|
|
NM_000264.5(PTCH1):c.3775A>G (p.Thr1259Ala)
|
|
|
NM_000264.5(PTCH1):c.3778G>T (p.Glu1260Ter)
|
rs1131690988
|
|
NM_000264.5(PTCH1):c.3783C>G (p.Asn1261Lys)
|
|
|
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala)
|
rs1588516673
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu)
|
rs144312968
|
|
NM_000264.5(PTCH1):c.3793G>T (p.Ala1265Ser)
|
rs759791227
|
|
NM_000264.5(PTCH1):c.3799T>G (p.Ser1267Ala)
|
rs1588516614
|
|
NM_000264.5(PTCH1):c.3803C>A (p.Thr1268Asn)
|
|
|
NM_000264.5(PTCH1):c.3804+2dup
|
rs1588516590
|
|
NM_000264.5(PTCH1):c.3804+3_3804+6del
|
|
|
NM_000264.5(PTCH1):c.3805-2A>G
|
|
|
NM_000264.5(PTCH1):c.3805-4G>A
|
rs1060504537
|
|
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)
|
rs1298467711
|
|
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu)
|
rs774167762
|
|
NM_000264.5(PTCH1):c.3824G>C (p.Arg1275Thr)
|
|
|
NM_000264.5(PTCH1):c.3828T>A (p.His1276Gln)
|
|
|
NM_000264.5(PTCH1):c.3835C>G (p.Pro1279Ala)
|
|
|
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
|
|
|
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
|
|
|
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter)
|
rs1838050037
|
|
NM_000264.5(PTCH1):c.3853C>T (p.Gln1285Ter)
|
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His)
|
rs1278213544
|
|
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr)
|
rs1838047745
|
|
NM_000264.5(PTCH1):c.3860A>C (p.His1287Pro)
|
|
|
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del)
|
rs1064792957
|
|
NM_000264.5(PTCH1):c.3863T>A (p.Leu1288Gln)
|
|
|
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg)
|
rs2136583470
|
|
NM_000264.5(PTCH1):c.3883C>G (p.Pro1295Ala)
|
|
|
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser)
|
rs1060502275
|
|
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg)
|
rs372828014
|
|
NM_000264.5(PTCH1):c.3896G>T (p.Gly1299Val)
|
|
|
NM_000264.5(PTCH1):c.389T>C (p.Val130Ala)
|
|
|
NM_000264.5(PTCH1):c.3900G>T (p.Gln1300His)
|
|
|
NM_000264.5(PTCH1):c.3901C>G (p.Gln1301Glu)
|
|
|
NM_000264.5(PTCH1):c.3902A>C (p.Gln1301Pro)
|
|
|
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)
|
rs780042369
|
|
NM_000264.5(PTCH1):c.3908G>C (p.Arg1303Pro)
|
|
|
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
|
|
|
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr)
|
rs1838039734
|
|
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.3917C>A (p.Pro1306His)
|
rs864622483
|
|
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala)
|
rs574880967
|
|
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His)
|
rs181585555
|
|
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu)
|
rs181585555
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)
|
rs762725821
|
|
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val)
|
rs773043616
|
|
NM_000264.5(PTCH1):c.3931T>G (p.Leu1311Val)
|
|
|
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.3940C>A (p.Pro1314Thr)
|
|
|
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
|
|
|
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.3946T>G (p.Tyr1316Asp)
|
|
|
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)
|
rs1482005246
|
|
NM_000264.5(PTCH1):c.395-3C>T
|
|
|
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser)
|
rs1211632031
|
|
NM_000264.5(PTCH1):c.3953C>A (p.Pro1318Gln)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3962A>C (p.Asp1321Ala)
|
|
|
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
|
|
|
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)
|
rs896779358
|
|
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val)
|
rs1054532927
|
|
NM_000264.5(PTCH1):c.3967T>G (p.Phe1323Val)
|
|
|
NM_000264.5(PTCH1):c.3968T>G (p.Phe1323Cys)
|
|
|
NM_000264.5(PTCH1):c.3971A>T (p.Glu1324Val)
|
|
|
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe)
|
rs764964224
|
|
NM_000264.5(PTCH1):c.3983A>C (p.Glu1328Ala)
|
|
|
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg)
|
rs1564005652
|
|
NM_000264.5(PTCH1):c.3990T>G (p.His1330Gln)
|
|
|
NM_000264.5(PTCH1):c.3997C>T (p.Pro1333Ser)
|
|
|
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr)
|
rs200620662
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4011_4022del (p.Trp1339_Arg1342del)
|
|
|
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu)
|
rs771238114
|
|
NM_000264.5(PTCH1):c.4015T>C (p.Trp1339Arg)
|
|
|
NM_000264.5(PTCH1):c.4015T>G (p.Trp1339Gly)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu)
|
rs748609458
|
|
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly)
|
rs556901417
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser)
|
rs1588510932
|
|
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
|
|
|
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile)
|
rs779482395
|
|
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val)
|
rs757909121
|
|
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)
|
rs757909121
|
|
NM_000264.5(PTCH1):c.4078T>G (p.Ser1360Ala)
|
|
|
NM_000264.5(PTCH1):c.4079C>A (p.Ser1360Tyr)
|
|
|
NM_000264.5(PTCH1):c.4081G>T (p.Val1361Leu)
|
rs753535745
|
|
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser)
|
rs1838001528
|
|
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)
|
rs767625820
|
|
NM_000264.5(PTCH1):c.4098G>C (p.Gln1366His)
|
rs1588510720
|
|
NM_000264.5(PTCH1):c.4100C>G (p.Pro1367Arg)
|
|
|
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
|
|
|
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr)
|
rs1267726258
|
|
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu)
|
rs745337014
|
|
NM_000264.5(PTCH1):c.4130T>C (p.Val1377Ala)
|
|
|
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu)
|
rs187104739
|
|
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
|
|
|
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro)
|
rs1837991686
|
|
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
|
|
|
NM_000264.5(PTCH1):c.4146C>A (p.His1382Gln)
|
|
|
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln)
|
rs1207158056
|
|
NM_000264.5(PTCH1):c.4147C>G (p.Pro1383Ala)
|
rs2136575090
|
|
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
NM_000264.5(PTCH1):c.4157T>A (p.Val1386Asp)
|
|
|
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs)
|
rs1837987148
|
|
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
|
|
|
NM_000264.5(PTCH1):c.4163G>C (p.Gly1388Ala)
|
|
|
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu)
|
rs1837985101
|
|
NM_000264.5(PTCH1):c.4174A>G (p.Asn1392Asp)
|
|
|
NM_000264.5(PTCH1):c.4175A>C (p.Asn1392Thr)
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
|
|
|
NM_000264.5(PTCH1):c.4184G>T (p.Gly1395Val)
|
|
|
NM_000264.5(PTCH1):c.4186G>C (p.Gly1396Arg)
|
|
|
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
|
|
|
NM_000264.5(PTCH1):c.4187dup (p.Leu1397fs)
|
rs1588510168
|
|
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg)
|
rs1372936088
|
|
NM_000264.5(PTCH1):c.419T>C (p.Leu140Ser)
|
rs1554702197
|
|
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His)
|
rs2136573477
|
|
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys)
|
rs1837975310
|
|
NM_000264.5(PTCH1):c.4204C>A (p.Pro1402Thr)
|
|
|
NM_000264.5(PTCH1):c.4204C>T (p.Pro1402Ser)
|
|
|
NM_000264.5(PTCH1):c.4214A>T (p.Asp1405Val)
|
|
|
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp)
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rs1837973275
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NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln)
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rs372558350
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NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
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NM_000264.5(PTCH1):c.422A>T (p.Asn141Ile)
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NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu)
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rs1434554186
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NM_000264.5(PTCH1):c.4231G>C (p.Asp1411His)
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NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu)
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rs2136572617
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NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala)
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rs1554688130
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NM_000264.5(PTCH1):c.4235_4236delinsTG (p.Pro1412Leu)
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NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
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NM_000264.5(PTCH1):c.4241T>C (p.Val1414Ala)
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NM_000264.5(PTCH1):c.4243C>A (p.Pro1415Thr)
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NM_000264.5(PTCH1):c.4243C>T (p.Pro1415Ser)
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NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu)
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rs1554688102
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NM_000264.5(PTCH1):c.4248_4249delinsTT (p.His1417Tyr)
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NM_000264.5(PTCH1):c.4249C>T (p.His1417Tyr)
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NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
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NM_000264.5(PTCH1):c.4251C>A (p.His1417Gln)
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NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe)
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rs369882883
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NM_000264.5(PTCH1):c.4258T>G (p.Cys1420Gly)
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NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr)
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rs913816675
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NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly)
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rs1246323077
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NM_000264.5(PTCH1):c.4268G>T (p.Arg1423Met)
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NM_000264.5(PTCH1):c.4271A>T (p.Asp1424Val)
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rs1588509666
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NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
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NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
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NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala)
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rs1060502283
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NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
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NM_000264.5(PTCH1):c.428C>T (p.Thr143Ile)
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NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln)
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rs755078405
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NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
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rs772802013
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NM_000264.5(PTCH1):c.4299G>C (p.Gln1433His)
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NM_000264.5(PTCH1):c.4300G>T (p.Asp1434Tyr)
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rs1564004355
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NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly)
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rs2136571074
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NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly)
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rs2136570975
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NM_000264.5(PTCH1):c.4310G>T (p.Cys1437Phe)
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NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
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rs2136570815
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NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly)
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rs1564004291
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NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys)
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rs1354112241
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NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
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rs1316474105
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NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu)
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rs1316474105
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NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly)
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rs143464326
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NM_000264.5(PTCH1):c.4330A>G (p.Ser1444Gly)
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NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
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rs972576439
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NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr)
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rs1588622790
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NM_000264.5(PTCH1):c.450G>T (p.Glu150Asp)
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rs1588622758
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NM_000264.5(PTCH1):c.454A>C (p.Met152Leu)
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NM_000264.5(PTCH1):c.456G>A (p.Met152Ile)
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NM_000264.5(PTCH1):c.468A>C (p.Gln156His)
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rs200729445
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NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro)
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rs2118545890
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NM_000264.5(PTCH1):c.472A>C (p.Met158Leu)
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rs758656848
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NM_000264.5(PTCH1):c.472A>G (p.Met158Val)
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rs758656848
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NM_000264.5(PTCH1):c.473T>C (p.Met158Thr)
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NM_000264.5(PTCH1):c.476T>C (p.Ile159Thr)
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NM_000264.5(PTCH1):c.484C>T (p.Pro162Ser)
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NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu)
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rs1588622580
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NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr)
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rs56406491
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NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
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NM_000264.5(PTCH1):c.491A>G (p.Glu164Gly)
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NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser)
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rs2118543729
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NM_000264.5(PTCH1):c.500C>T (p.Ala167Val)
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rs587780707
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NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp)
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rs2118543274
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NM_000264.5(PTCH1):c.508C>G (p.Leu170Val)
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rs1841917213
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NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile)
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rs1554702106
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NM_000264.5(PTCH1):c.517G>A (p.Glu173Lys)
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NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
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rs1841912540
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NM_000264.5(PTCH1):c.538G>C (p.Asp180His)
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rs1554702067
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NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
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NM_000264.5(PTCH1):c.554C>T (p.Ala185Val)
|
rs1276503562
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NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly)
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rs1564062769
|
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NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys)
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rs1554702047
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NM_000264.5(PTCH1):c.560G>T (p.Arg187Leu)
|
rs138034434
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NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
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NM_000264.5(PTCH1):c.575T>G (p.Met192Arg)
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NM_000264.5(PTCH1):c.580A>G (p.Asn194Asp)
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NM_000264.5(PTCH1):c.585-3T>C
|
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NM_000264.5(PTCH1):c.585-4_585-2del
|
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NM_000264.5(PTCH1):c.587A>G (p.Gln196Arg)
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NM_000264.5(PTCH1):c.602A>G (p.His201Arg)
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NM_000264.5(PTCH1):c.613A>C (p.Lys205Gln)
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rs1554700724
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NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr)
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rs1841595401
|
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NM_000264.5(PTCH1):c.623A>G (p.Glu208Gly)
|
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NM_000264.5(PTCH1):c.628A>G (p.Ile210Val)
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rs1588614551
|
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NM_000264.5(PTCH1):c.638C>G (p.Thr213Arg)
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NM_000264.5(PTCH1):c.641G>T (p.Gly214Val)
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rs2118472707
|
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NM_000264.5(PTCH1):c.654+3A>G
|
rs1131690966
|
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NM_000264.5(PTCH1):c.655A>T (p.Ile219Leu)
|
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NM_000264.5(PTCH1):c.663A>C (p.Glu221Asp)
|
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NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)
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rs1266754583
|
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NM_000264.5(PTCH1):c.667C>T (p.Leu223Phe)
|
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NM_000264.5(PTCH1):c.685A>T (p.Ile229Phe)
|
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NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser)
|
rs1564057856
|
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NM_000264.5(PTCH1):c.704T>G (p.Phe235Cys)
|
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NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr)
|
rs1841573078
|
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NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
|
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NM_000264.5(PTCH1):c.725A>T (p.Gln242Leu)
|
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NM_000264.5(PTCH1):c.726G>T (p.Gln242His)
|
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NM_000264.5(PTCH1):c.730G>T (p.Gly244Trp)
|
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NM_000264.5(PTCH1):c.731G>A (p.Gly244Glu)
|
rs1588614020
|
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NM_000264.5(PTCH1):c.734C>T (p.Thr245Ile)
|
rs1841570436
|
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NM_000264.5(PTCH1):c.737C>T (p.Ala246Val)
|
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NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe)
|
rs1841568646
|
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NM_000264.5(PTCH1):c.746+3A>G
|
rs1841567989
|
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NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu)
|
rs2118428694
|
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NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
|
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NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
|
rs1554700016
|
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NM_000264.5(PTCH1):c.757C>T (p.Pro253Ser)
|
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NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp)
|
rs925067209
|
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NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu)
|
rs779870576
|
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NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)
|
rs368102115
|
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NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser)
|
rs1318134628
|
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NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys)
|
rs1588610385
|
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NM_000264.5(PTCH1):c.812_814del (p.Ile271del)
|
rs1588610299
|
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NM_000264.5(PTCH1):c.818A>G (p.Tyr273Cys)
|
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NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu)
|
rs2118422378
|
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NM_000264.5(PTCH1):c.829A>G (p.Ser277Gly)
|
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NM_000264.5(PTCH1):c.841A>G (p.Met281Val)
|
rs2118420301
|
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NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)
|
rs1564055682
|
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NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
|
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NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser)
|
rs2118418275
|
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NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
|
rs1588610088
|
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NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)
|
rs776187586
|
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NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe)
|
rs1841445491
|
|
NM_000264.5(PTCH1):c.892A>C (p.Asn298His)
|
rs1588609918
|
|
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
|
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NM_000264.5(PTCH1):c.892A>T (p.Asn298Tyr)
|
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NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln)
|
rs141939274
|
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NM_000264.5(PTCH1):c.901G>C (p.Asp301His)
|
|
|
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr)
|
rs767601899
|
|
NM_000264.5(PTCH1):c.904C>T (p.Pro302Ser)
|
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|
NM_000264.5(PTCH1):c.905C>T (p.Pro302Leu)
|
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|
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
|
|
|
NM_000264.5(PTCH1):c.923C>T (p.Ala308Val)
|
|
|
NM_000264.5(PTCH1):c.938C>T (p.Ser313Leu)
|
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|
NM_000264.5(PTCH1):c.943A>C (p.Lys315Gln)
|
|
|
NM_000264.5(PTCH1):c.946-5T>A
|
rs1588608882
|
|
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
|
rs1380199153
|
|
NM_000264.5(PTCH1):c.950T>C (p.Leu317Pro)
|
|
|
NM_000264.5(PTCH1):c.956T>G (p.Met319Arg)
|
|
|
NM_000264.5(PTCH1):c.957G>A (p.Met319Ile)
|
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|
NM_000264.5(PTCH1):c.961C>T (p.Leu321Phe)
|
|
|
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser)
|
rs1588608738
|
|
NM_000264.5(PTCH1):c.983A>G (p.His328Arg)
|
|
|
NM_000264.5(PTCH1):c.983A>T (p.His328Leu)
|
rs1484111496
|
|
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
|
|
|