NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)
|
rs2236405
|
0.04656
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)
|
rs1805156
|
0.00086
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000264.5(PTCH1):c.3805-9C>T
|
rs2236404
|
0.00072
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)
|
rs56102979
|
0.00041
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)
|
rs200873074
|
0.00028
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_000264.5(PTCH1):c.1728+16T>A
|
rs758961945
|
0.00017
|
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=)
|
rs141134542
|
0.00017
|
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)
|
rs149547604
|
0.00016
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)
|
rs587780697
|
0.00011
|
NM_000264.5(PTCH1):c.2561-7T>C
|
rs112140654
|
0.00011
|
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)
|
rs147567317
|
0.00011
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn)
|
rs531947455
|
0.00006
|
NM_000264.5(PTCH1):c.3449+11G>A
|
rs568528640
|
0.00006
|
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)
|
rs80168454
|
0.00006
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)
|
rs587780699
|
0.00004
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.1348-4G>A
|
rs772826555
|
0.00003
|
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)
|
rs138729094
|
0.00003
|
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)
|
rs201103723
|
0.00003
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=)
|
rs751797047
|
0.00003
|
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)
|
rs1057515721
|
0.00003
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)
|
rs146447673
|
0.00002
|
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)
|
rs375098989
|
0.00001
|
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)
|
rs767273237
|
0.00001
|
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)
|
rs372546614
|
0.00001
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)
|
rs758811078
|
0.00001
|
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)
|
rs547954117
|
0.00001
|
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)
|
rs755391704
|
0.00001
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)
|
rs756638660
|
0.00001
|
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser)
|
rs574856671
|
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.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)
|
rs781171287
|
0.00001
|
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)
|
rs775408408
|
|
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)
|
rs863225054
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.1729-11del
|
rs779000277
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn)
|
rs1840282022
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
|
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
|
rs1588528503
|
|
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
|
|
|
NM_000264.5(PTCH1):c.407dup (p.Ser137fs)
|
rs1564063386
|
|
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)
|
rs756897237
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)
|
rs1284183739
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)
|
rs774712511
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs)
|
rs1573648653
|
|