NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)
|
rs369882883
|
0.00014
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu)
|
rs141939274
|
0.00012
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
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.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln)
|
rs375628555
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys)
|
rs774822170
|
0.00003
|
NM_000264.5(PTCH1):c.237G>A (p.Leu79=)
|
rs547602299
|
0.00002
|
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)
|
rs760902564
|
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.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.1642G>A (p.Val548Met)
|
rs575035810
|
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.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.3574C>T (p.Arg1192Cys)
|
rs571420165
|
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.3915C>A (p.Asp1305Glu)
|
rs786204201
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
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
|
NM_000264.5(PTCH1):c.*2-1G>A
|
|
|
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val)
|
rs1342698215
|
|
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.1195T>A (p.Trp399Arg)
|
rs2118364438
|
|
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.1375C>T (p.Arg459Cys)
|
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg)
|
rs2118303660
|
|
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.1612G>A (p.Gly538Arg)
|
rs1347882326
|
|
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.2605A>G (p.Met869Val)
|
rs2136689015
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
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.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
|
|
|
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.3358G>A (p.Glu1120Lys)
|
rs1838662287
|
|
NM_000264.5(PTCH1):c.3457T>C (p.Phe1153Leu)
|
|
|
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly)
|
rs1588516924
|
|
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.3945del (p.Tyr1316fs)
|
|
|
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)
|
rs536440590
|
|
NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)
|
|
|
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.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
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.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.585-17_585-13del
|
rs776103507
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
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.946-5T>A
|
rs1588608882
|
|