NM_000264.5(PTCH1):c.*2276A>T
|
rs868749157
|
0.00625
|
NM_000264.5(PTCH1):c.*1132G>A
|
rs572803728
|
0.00083
|
NM_000264.5(PTCH1):c.*1896T>C
|
rs949498288
|
0.00064
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
NM_000264.5(PTCH1):c.*3337T>C
|
rs551093780
|
0.00032
|
NM_000264.5(PTCH1):c.*478A>G
|
rs937053306
|
0.00031
|
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.*168C>A
|
rs769353632
|
0.00024
|
NM_000264.5(PTCH1):c.*3138T>C
|
rs548583404
|
0.00023
|
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met)
|
rs11573591
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg)
|
rs554684439
|
0.00018
|
NM_000264.5(PTCH1):c.*750G>A
|
rs777077097
|
0.00017
|
NM_000264.5(PTCH1):c.*3272C>T
|
rs963000528
|
0.00016
|
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)
|
rs149547604
|
0.00016
|
NM_003738.5(PTCH2):c.2432G>A (p.Arg811His)
|
rs112613379
|
0.00016
|
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val)
|
rs202184038
|
0.00016
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
NM_000264.5(PTCH1):c.*1358G>A
|
rs756098510
|
0.00014
|
NM_000264.5(PTCH1):c.*2425A>C
|
rs932959120
|
0.00014
|
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr)
|
rs144561012
|
0.00014
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
NM_016169.4(SUFU):c.1296+1638C>T
|
rs368920108
|
0.00014
|
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly)
|
rs373859654
|
0.00013
|
NM_003738.5(PTCH2):c.3257+3del
|
rs758457727
|
0.00013
|
NM_000264.5(PTCH1):c.*859C>T
|
rs775198573
|
0.00012
|
NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg)
|
rs375651844
|
0.00011
|
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)
|
rs147567317
|
0.00011
|
NM_000264.5(PTCH1):c.*2644A>C
|
rs773680534
|
0.00010
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp)
|
rs143737414
|
0.00010
|
NM_000264.5(PTCH1):c.*2795G>T
|
rs773035324
|
0.00009
|
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val)
|
rs766965501
|
0.00009
|
NM_003738.5(PTCH2):c.347T>C (p.Ile116Thr)
|
rs200800966
|
0.00009
|
NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp)
|
rs200366479
|
0.00009
|
NM_000264.5(PTCH1):c.*2737C>A
|
rs1038475537
|
0.00008
|
NM_000264.5(PTCH1):c.*762G>C
|
rs763571205
|
0.00008
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)
|
rs374155092
|
0.00008
|
NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr)
|
rs139590197
|
0.00008
|
NM_000264.5(PTCH1):c.*1648A>G
|
rs1057515713
|
0.00007
|
NM_000264.5(PTCH1):c.-78G>A
|
rs572958276
|
0.00007
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_003738.5(PTCH2):c.1371+5G>A
|
rs532682199
|
0.00007
|
NM_003738.5(PTCH2):c.2678C>T (p.Thr893Met)
|
rs199596045
|
0.00007
|
NM_003738.5(PTCH2):c.3139C>T (p.Arg1047Trp)
|
rs758245867
|
0.00007
|
NM_003738.5(PTCH2):c.623G>A (p.Arg208His)
|
rs768496761
|
0.00007
|
NM_003738.5(PTCH2):c.998G>A (p.Arg333Gln)
|
rs146689795
|
0.00007
|
NM_000264.5(PTCH1):c.*623C>T
|
rs776158552
|
0.00006
|
NM_000264.5(PTCH1):c.-122G>A
|
rs980754274
|
0.00006
|
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp)
|
rs139942632
|
0.00006
|
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr)
|
rs765975927
|
0.00006
|
NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn)
|
rs528004785
|
0.00006
|
NM_003738.5(PTCH2):c.2261G>A (p.Arg754His)
|
rs757344433
|
0.00006
|
NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr)
|
rs200862802
|
0.00006
|
NM_003738.5(PTCH2):c.2431C>T (p.Arg811Cys)
|
rs144449175
|
0.00006
|
NM_003738.5(PTCH2):c.2964G>A (p.Thr988=)
|
rs746706776
|
0.00006
|
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)
|
rs80168454
|
0.00006
|
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn)
|
rs758108389
|
0.00006
|
NM_003738.5(PTCH2):c.704G>A (p.Arg235Gln)
|
rs376337405
|
0.00006
|
NM_003738.5(PTCH2):c.865A>G (p.Lys289Glu)
|
rs766393257
|
0.00006
|
NM_003738.5(PTCH2):c.1561A>C (p.Ile521Leu)
|
rs1159508966
|
0.00005
|
NM_003738.5(PTCH2):c.1768C>A (p.Pro590Thr)
|
rs776592479
|
0.00005
|
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys)
|
rs146570996
|
0.00005
|
NM_003738.5(PTCH2):c.2743C>T (p.Arg915Cys)
|
rs758477982
|
0.00005
|
NM_003738.5(PTCH2):c.608C>T (p.Ala203Val)
|
rs968580747
|
0.00005
|
NM_016169.4(SUFU):c.183-4G>A
|
rs766044613
|
0.00005
|
NM_000264.5(PTCH1):c.*1153C>G
|
rs770443972
|
0.00004
|
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.4076G>A (p.Ser1359Asn)
|
rs745451899
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu)
|
rs767973616
|
0.00004
|
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)
|
rs185570125
|
0.00004
|
NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu)
|
rs1315638429
|
0.00004
|
NM_003738.5(PTCH2):c.1223A>G (p.Tyr408Cys)
|
rs140845138
|
0.00004
|
NM_003738.5(PTCH2):c.1267G>A (p.Gly423Ser)
|
rs371644875
|
0.00004
|
NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val)
|
rs139931596
|
0.00004
|
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg)
|
rs375844056
|
0.00004
|
NM_003738.5(PTCH2):c.184G>A (p.Gly62Arg)
|
rs751954698
|
0.00004
|
NM_003738.5(PTCH2):c.2065G>A (p.Val689Met)
|
rs748318921
|
0.00004
|
NM_003738.5(PTCH2):c.2419C>T (p.Arg807Cys)
|
rs376171572
|
0.00004
|
NM_003738.5(PTCH2):c.2459C>T (p.Ala820Val)
|
rs140437473
|
0.00004
|
NM_003738.5(PTCH2):c.2884C>T (p.Arg962Cys)
|
rs746328425
|
0.00004
|
NM_003738.5(PTCH2):c.2976+2T>C
|
rs760436790
|
0.00004
|
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe)
|
rs138220875
|
0.00004
|
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=)
|
rs752886480
|
0.00004
|
NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu)
|
rs148142832
|
0.00004
|
NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg)
|
rs369587910
|
0.00004
|
NM_003738.5(PTCH2):c.446T>A (p.Leu149His)
|
rs111283762
|
0.00004
|
NM_000264.5(PTCH1):c.*2180C>T
|
rs1357696436
|
0.00003
|
NM_000264.5(PTCH1):c.*3111G>A
|
rs1395471972
|
0.00003
|
NM_000264.5(PTCH1):c.*556G>A
|
rs964764151
|
0.00003
|
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)
|
rs138729094
|
0.00003
|
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr)
|
rs753960393
|
0.00003
|
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)
|
rs201103723
|
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.4144C>T (p.His1382Tyr)
|
rs377484697
|
0.00003
|
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln)
|
rs748812637
|
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.46G>A (p.Gly16Ser)
|
rs1057515721
|
0.00003
|
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)
|
rs778460384
|
0.00003
|
NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln)
|
rs11573578
|
0.00003
|
NM_003738.5(PTCH2):c.1083+4G>A
|
rs370819522
|
0.00003
|
NM_003738.5(PTCH2):c.1465-3C>A
|
rs749158562
|
0.00003
|
NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val)
|
rs200216295
|
0.00003
|
NM_003738.5(PTCH2):c.1663C>T (p.Arg555Trp)
|
rs369481564
|
0.00003
|
NM_003738.5(PTCH2):c.1756G>T (p.Asp586Tyr)
|
rs751113988
|
0.00003
|
NM_003738.5(PTCH2):c.1951G>A (p.Glu651Lys)
|
rs866056830
|
0.00003
|
NM_003738.5(PTCH2):c.221G>A (p.Arg74His)
|
rs771760736
|
0.00003
|
NM_003738.5(PTCH2):c.229A>G (p.Ile77Val)
|
rs774219740
|
0.00003
|
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys)
|
rs759692145
|
0.00003
|
NM_003738.5(PTCH2):c.2776G>T (p.Ala926Ser)
|
rs764506722
|
0.00003
|
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln)
|
rs369745249
|
0.00003
|
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser)
|
rs752127255
|
0.00003
|
NM_003738.5(PTCH2):c.2975T>C (p.Ile992Thr)
|
rs776299795
|
0.00003
|
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln)
|
rs1488300164
|
0.00003
|
NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg)
|
rs775788908
|
0.00003
|
NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr)
|
rs200049774
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
NM_003738.5(PTCH2):c.626C>G (p.Pro209Arg)
|
rs372348401
|
0.00003
|
NM_003738.5(PTCH2):c.755G>A (p.Cys252Tyr)
|
rs756377856
|
0.00003
|
NM_003738.5(PTCH2):c.832G>A (p.Glu278Lys)
|
rs749103409
|
0.00003
|
NM_000264.5(PTCH1):c.*1167A>G
|
rs192352160
|
0.00002
|
NM_000264.5(PTCH1):c.*1220A>G
|
rs930382710
|
0.00002
|
NM_000264.5(PTCH1):c.*1885G>A
|
rs892705165
|
0.00002
|
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn)
|
rs764579762
|
0.00002
|
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr)
|
rs779204091
|
0.00002
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.1215+14C>T
|
rs367857273
|
0.00002
|
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu)
|
rs1239869539
|
0.00002
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)
|
rs746339472
|
0.00002
|
NM_000264.5(PTCH1):c.3965C>G (p.Ala1322Gly)
|
rs1054532927
|
0.00002
|
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met)
|
rs745337014
|
0.00002
|
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)
|
rs146447673
|
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.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr)
|
rs863224654
|
0.00002
|
NM_003738.5(PTCH2):c.1039C>T (p.Gln347Ter)
|
rs202104574
|
0.00002
|
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)
|
rs757205202
|
0.00002
|
NM_003738.5(PTCH2):c.1238T>C (p.Met413Thr)
|
rs779283615
|
0.00002
|
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln)
|
rs764488358
|
0.00002
|
NM_003738.5(PTCH2):c.1273G>A (p.Val425Met)
|
rs776537011
|
0.00002
|
NM_003738.5(PTCH2):c.1489C>T (p.Arg497Cys)
|
rs200815526
|
0.00002
|
NM_003738.5(PTCH2):c.1492A>G (p.Thr498Ala)
|
rs777213605
|
0.00002
|
NM_003738.5(PTCH2):c.1555G>A (p.Val519Ile)
|
rs113543298
|
0.00002
|
NM_003738.5(PTCH2):c.1624G>A (p.Val542Met)
|
rs1366049289
|
0.00002
|
NM_003738.5(PTCH2):c.1690G>A (p.Val564Met)
|
rs35956045
|
0.00002
|
NM_003738.5(PTCH2):c.1726G>T (p.Val576Leu)
|
rs867905557
|
0.00002
|
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr)
|
rs199563590
|
0.00002
|
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr)
|
rs376282577
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.2014G>A (p.Ala672Thr)
|
rs145383991
|
0.00002
|
NM_003738.5(PTCH2):c.2033C>T (p.Pro678Leu)
|
rs752642110
|
0.00002
|
NM_003738.5(PTCH2):c.203C>A (p.Ala68Asp)
|
rs376362870
|
0.00002
|
NM_003738.5(PTCH2):c.2303C>T (p.Ala768Val)
|
rs761442845
|
0.00002
|
NM_003738.5(PTCH2):c.233T>C (p.Ile78Thr)
|
rs749275900
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn)
|
rs745445438
|
0.00002
|
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln)
|
rs751579508
|
0.00002
|
NM_003738.5(PTCH2):c.275G>A (p.Arg92Gln)
|
rs778736481
|
0.00002
|
NM_003738.5(PTCH2):c.277G>A (p.Val93Met)
|
rs145784624
|
0.00002
|
NM_003738.5(PTCH2):c.286G>A (p.Glu96Lys)
|
rs773172626
|
0.00002
|
NM_003738.5(PTCH2):c.2932G>A (p.Val978Ile)
|
rs201618166
|
0.00002
|
NM_003738.5(PTCH2):c.3076G>A (p.Val1026Ile)
|
rs758023126
|
0.00002
|
NM_003738.5(PTCH2):c.3148C>T (p.Arg1050Trp)
|
rs765314961
|
0.00002
|
NM_003738.5(PTCH2):c.3257+1G>A
|
rs760843273
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys)
|
rs771112499
|
0.00002
|
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter)
|
rs56024410
|
0.00002
|
NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu)
|
rs909583917
|
0.00002
|
NM_003738.5(PTCH2):c.467T>G (p.Leu156Trp)
|
rs757373889
|
0.00002
|
NM_003738.5(PTCH2):c.526-2A>G
|
rs761307519
|
0.00002
|
NM_003738.5(PTCH2):c.545C>T (p.Pro182Leu)
|
rs773912063
|
0.00002
|
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu)
|
rs1038343665
|
0.00002
|
NM_003738.5(PTCH2):c.811C>T (p.Gln271Ter)
|
rs1179743544
|
0.00002
|
NM_003738.5(PTCH2):c.901G>A (p.Gly301Ser)
|
rs757505677
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_000264.5(PTCH1):c.*1556T>G
|
rs572321616
|
0.00001
|
NM_000264.5(PTCH1):c.*1904T>C
|
rs992648722
|
0.00001
|
NM_000264.5(PTCH1):c.*2096G>A
|
rs1331556943
|
0.00001
|
NM_000264.5(PTCH1):c.*3080G>T
|
rs1006981555
|
0.00001
|
NM_000264.5(PTCH1):c.*3209T>C
|
rs757611119
|
0.00001
|
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys)
|
rs1841406856
|
0.00001
|
NM_000264.5(PTCH1):c.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.106A>G (p.Thr36Ala)
|
rs1843898216
|
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.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.1274C>T (p.Thr425Met)
|
rs768956985
|
0.00001
|
NM_000264.5(PTCH1):c.1277C>T (p.Thr426Ile)
|
rs755787454
|
0.00001
|
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)
|
rs778455544
|
0.00001
|
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala)
|
rs864622762
|
0.00001
|
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)
|
rs372546614
|
0.00001
|
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)
|
rs759078774
|
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.1733C>T (p.Ala578Val)
|
rs960630296
|
0.00001
|
NM_000264.5(PTCH1):c.1762G>A (p.Val588Ile)
|
rs1472804824
|
0.00001
|
NM_000264.5(PTCH1):c.1829T>C (p.Ile610Thr)
|
rs1234183663
|
0.00001
|
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly)
|
rs1296707371
|
0.00001
|
NM_000264.5(PTCH1):c.1835G>T (p.Cys612Phe)
|
rs777587539
|
0.00001
|
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)
|
rs948568790
|
0.00001
|
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile)
|
rs727504112
|
0.00001
|
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr)
|
rs1035631674
|
0.00001
|
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met)
|
rs746898855
|
0.00001
|
NM_000264.5(PTCH1):c.1973T>C (p.Met658Thr)
|
rs1588575145
|
0.00001
|
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg)
|
rs1840305709
|
0.00001
|
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys)
|
rs767947110
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala)
|
rs1588574496
|
0.00001
|
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly)
|
rs1402724349
|
0.00001
|
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg)
|
rs1051496812
|
0.00001
|
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)
|
rs758811078
|
0.00001
|
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys)
|
rs1156974460
|
0.00001
|
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser)
|
rs997156828
|
0.00001
|
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)
|
rs755391704
|
0.00001
|
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)
|
rs923429610
|
0.00001
|
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp)
|
rs1159846014
|
0.00001
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)
|
rs587778628
|
0.00001
|
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)
|
rs1427672162
|
0.00001
|
NM_000264.5(PTCH1):c.2704-3T>C
|
rs1208489068
|
0.00001
|
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val)
|
rs1441750517
|
0.00001
|
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu)
|
rs1587693508
|
0.00001
|
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn)
|
rs1588544328
|
0.00001
|
NM_000264.5(PTCH1):c.28C>G (p.Pro10Ala)
|
rs1587701162
|
0.00001
|
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu)
|
rs760297274
|
0.00001
|
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu)
|
rs1257244317
|
0.00001
|
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg)
|
rs1181905241
|
0.00001
|
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser)
|
rs780425276
|
0.00001
|
NM_000264.5(PTCH1):c.3041C>T (p.Pro1014Leu)
|
rs1404012576
|
0.00001
|
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=)
|
rs757268536
|
0.00001
|
NM_000264.5(PTCH1):c.3188T>C (p.Met1063Thr)
|
rs1260702127
|
0.00001
|
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu)
|
rs559317040
|
0.00001
|
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val)
|
rs1338490449
|
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.3331A>G (p.Lys1111Glu)
|
rs1838665681
|
0.00001
|
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)
|
rs756638660
|
0.00001
|
NM_000264.5(PTCH1):c.337G>T (p.Ala113Ser)
|
rs1843653911
|
0.00001
|
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr)
|
rs1838650766
|
0.00001
|
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys)
|
rs1838317135
|
0.00001
|
NM_000264.5(PTCH1):c.3592C>T (p.Pro1198Ser)
|
rs1280830531
|
0.00001
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
0.00001
|
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)
|
rs747181820
|
0.00001
|
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp)
|
rs374011978
|
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.3804T>C (p.Thr1268=)
|
rs951501624
|
0.00001
|
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp)
|
rs1838051752
|
0.00001
|
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe)
|
rs760216958
|
0.00001
|
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)
|
rs786204201
|
0.00001
|
NM_000264.5(PTCH1):c.3916C>A (p.Pro1306Thr)
|
rs1169961504
|
0.00001
|
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)
|
rs1057524645
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000264.5(PTCH1):c.395-8T>A
|
rs755013836
|
0.00001
|
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp)
|
rs1394160194
|
0.00001
|
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)
|
rs978722722
|
0.00001
|
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg)
|
rs1022984391
|
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.4138G>A (p.Ala1380Thr)
|
rs111481152
|
0.00001
|
NM_000264.5(PTCH1):c.4160C>T (p.Pro1387Leu)
|
rs552921967
|
0.00001
|
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)
|
rs587778631
|
0.00001
|
NM_000264.5(PTCH1):c.4178C>G (p.Pro1393Arg)
|
rs1368334005
|
0.00001
|
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter)
|
rs1297685477
|
0.00001
|
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)
|
rs375626922
|
0.00001
|
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu)
|
rs747923595
|
0.00001
|
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser)
|
rs1275384199
|
0.00001
|
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)
|
rs786204094
|
0.00001
|
NM_000264.5(PTCH1):c.41G>A (p.Gly14Asp)
|
rs1564091998
|
0.00001
|
NM_000264.5(PTCH1):c.4237C>T (p.His1413Tyr)
|
rs772886108
|
0.00001
|
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr)
|
rs556722778
|
0.00001
|
NM_000264.5(PTCH1):c.4291G>A (p.Glu1431Lys)
|
rs766876016
|
0.00001
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
0.00001
|
NM_000264.5(PTCH1):c.4320G>T (p.Arg1440Ser)
|
rs1837952286
|
0.00001
|
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn)
|
rs770268061
|
0.00001
|
NM_000264.5(PTCH1):c.584+6G>A
|
rs1282207631
|
0.00001
|
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr)
|
rs1261920867
|
0.00001
|
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala)
|
rs1588614533
|
0.00001
|
NM_000264.5(PTCH1):c.652C>G (p.Gln218Glu)
|
rs1841591077
|
0.00001
|
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val)
|
rs1841580631
|
0.00001
|
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr)
|
rs1588610162
|
0.00001
|
NM_000264.5(PTCH1):c.907G>C (p.Asp303His)
|
rs1172719429
|
0.00001
|
NM_000264.5(PTCH1):c.944A>C (p.Lys315Thr)
|
rs746517321
|
0.00001
|
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val)
|
rs1380199153
|
0.00001
|
NM_000264.5(PTCH1):c.95G>A (p.Arg32Lys)
|
rs746923835
|
0.00001
|
NM_003738.5(PTCH2):c.1070G>A (p.Arg357Gln)
|
rs746520151
|
0.00001
|
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter)
|
rs1344552083
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.110G>A (p.Arg37His)
|
rs889058469
|
0.00001
|
NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val)
|
rs566147210
|
0.00001
|
NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met)
|
rs768659000
|
0.00001
|
NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val)
|
rs936828240
|
0.00001
|
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)
|
rs781171287
|
0.00001
|
NM_003738.5(PTCH2):c.1342G>A (p.Gly448Ser)
|
rs764006611
|
0.00001
|
NM_003738.5(PTCH2):c.1371+4C>T
|
rs201185084
|
0.00001
|
NM_003738.5(PTCH2):c.1387G>C (p.Ala463Pro)
|
rs767529534
|
0.00001
|
NM_003738.5(PTCH2):c.1399G>A (p.Gly467Ser)
|
rs774556844
|
0.00001
|
NM_003738.5(PTCH2):c.148G>A (p.Gly50Arg)
|
rs1050285039
|
0.00001
|
NM_003738.5(PTCH2):c.1490G>A (p.Arg497His)
|
rs747326124
|
0.00001
|
NM_003738.5(PTCH2):c.1491C>T (p.Arg497=)
|
rs1218382325
|
0.00001
|
NM_003738.5(PTCH2):c.1540C>T (p.Leu514Phe)
|
rs1166767159
|
0.00001
|
NM_003738.5(PTCH2):c.1574G>A (p.Arg525Gln)
|
rs780947486
|
0.00001
|
NM_003738.5(PTCH2):c.1583C>T (p.Ser528Phe)
|
rs746773302
|
0.00001
|
NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter)
|
rs1267419292
|
0.00001
|
NM_003738.5(PTCH2):c.1634T>C (p.Val545Ala)
|
rs868360367
|
0.00001
|
NM_003738.5(PTCH2):c.1664G>A (p.Arg555Gln)
|
rs751870013
|
0.00001
|
NM_003738.5(PTCH2):c.1667G>A (p.Arg556Gln)
|
rs538894363
|
0.00001
|
NM_003738.5(PTCH2):c.1682G>A (p.Arg561His)
|
rs375224102
|
0.00001
|
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser)
|
rs779477101
|
0.00001
|
NM_003738.5(PTCH2):c.1913C>G (p.Pro638Arg)
|
rs753624626
|
0.00001
|
NM_003738.5(PTCH2):c.1991C>T (p.Ala664Val)
|
rs1461435360
|
0.00001
|
NM_003738.5(PTCH2):c.2017C>T (p.Arg673Cys)
|
rs151287275
|
0.00001
|
NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe)
|
rs765469465
|
0.00001
|
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln)
|
rs121434397
|
0.00001
|
NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys)
|
rs772919434
|
0.00001
|
NM_003738.5(PTCH2):c.2219C>T (p.Ala740Val)
|
rs768297911
|
0.00001
|
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys)
|
rs779024571
|
0.00001
|
NM_003738.5(PTCH2):c.2319G>A (p.Pro773=)
|
rs1346751141
|
0.00001
|
NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys)
|
rs756422449
|
0.00001
|
NM_003738.5(PTCH2):c.2371+9C>T
|
rs1261637894
|
0.00001
|
NM_003738.5(PTCH2):c.2380G>A (p.Ala794Thr)
|
rs753274452
|
0.00001
|
NM_003738.5(PTCH2):c.2514+1G>T
|
rs1270521718
|
0.00001
|
NM_003738.5(PTCH2):c.2519C>G (p.Thr840Ser)
|
rs150339322
|
0.00001
|
NM_003738.5(PTCH2):c.2563C>T (p.Leu855Phe)
|
rs770833248
|
0.00001
|
NM_003738.5(PTCH2):c.2584G>A (p.Val862Met)
|
rs371160711
|
0.00001
|
NM_003738.5(PTCH2):c.2644C>T (p.Pro882Ser)
|
rs746520920
|
0.00001
|
NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val)
|
rs776549275
|
0.00001
|
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser)
|
rs746898559
|
0.00001
|
NM_003738.5(PTCH2):c.2865A>G (p.Glu955=)
|
rs895448868
|
0.00001
|
NM_003738.5(PTCH2):c.2923A>T (p.Thr975Ser)
|
rs1166283414
|
0.00001
|
NM_003738.5(PTCH2):c.2933T>C (p.Val978Ala)
|
rs756475622
|
0.00001
|
NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val)
|
rs150218755
|
0.00001
|
NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr)
|
rs767618405
|
0.00001
|
NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met)
|
rs1159570918
|
0.00001
|
NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu)
|
rs1234546689
|
0.00001
|
NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser)
|
rs545773315
|
0.00001
|
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu)
|
rs777389212
|
0.00001
|
NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro)
|
rs779167991
|
0.00001
|
NM_003738.5(PTCH2):c.3506del (p.Leu1169fs)
|
rs1049941528
|
0.00001
|
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr)
|
rs900911841
|
0.00001
|
NM_003738.5(PTCH2):c.453G>T (p.Gly151=)
|
rs757012124
|
0.00001
|
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp)
|
rs777212373
|
0.00001
|
NM_003738.5(PTCH2):c.52G>C (p.Ala18Pro)
|
rs1186947999
|
0.00001
|
NM_003738.5(PTCH2):c.530T>C (p.Ile177Thr)
|
rs1383422802
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
NM_003738.5(PTCH2):c.571del (p.Cys191fs)
|
rs1476622319
|
0.00001
|
NM_003738.5(PTCH2):c.73A>C (p.Ile25Leu)
|
rs766919037
|
0.00001
|
NM_003738.5(PTCH2):c.763C>G (p.Pro255Ala)
|
rs200618779
|
0.00001
|
NM_003738.5(PTCH2):c.7C>T (p.Arg3Ter)
|
rs1060502263
|
0.00001
|
NM_003738.5(PTCH2):c.813+4G>C
|
rs552470325
|
0.00001
|
NM_003738.5(PTCH2):c.821A>G (p.Asn274Ser)
|
rs753314916
|
0.00001
|
NM_003738.5(PTCH2):c.838A>G (p.Ser280Gly)
|
rs1429367527
|
0.00001
|
NM_003738.5(PTCH2):c.935+6G>A
|
rs370065753
|
0.00001
|
NM_003738.5(PTCH2):c.953G>A (p.Ser318Asn)
|
rs772366646
|
0.00001
|
NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp)
|
rs779863570
|
0.00001
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NC_000001.10:g.(?_45288087)_(45289067_?)dup
|
|
|
NC_000001.10:g.(?_45288087)_(45308604_?)dup
|
|
|
NC_000001.10:g.(?_45290013)_(45292899_?)del
|
|
|
NC_000001.10:g.(?_45295206)_(45297698_?)del
|
|
|
NC_000001.10:g.(?_45307509)_(45308604_?)dup
|
|
|
NC_000001.11:g.(?_44822405)_(44823395_?)dup
|
|
|
NC_000001.11:g.(?_44822405)_(44832351_?)dup
|
|
|
NC_000009.11:g.(?_98226337)_(98248166_?)dup
|
|
|
NC_000009.11:g.(?_98231023)_(98232223_?)del
|
|
|
NC_000009.11:g.(?_98268679)_(98279100_?)dup
|
|
|
NC_000009.12:g.(?_95446912)_(95508361_?)dup
|
|
|
NM_000264.3(PTCH1):c.3168+763_4244del
|
|
|
NM_000264.5(PTCH1):c.*1075A>C
|
rs1020973772
|
|
NM_000264.5(PTCH1):c.*1256C>T
|
rs187832324
|
|
NM_000264.5(PTCH1):c.*1353T>C
|
rs1837774312
|
|
NM_000264.5(PTCH1):c.*1413C>G
|
rs1057515714
|
|
NM_000264.5(PTCH1):c.*1638A>G
|
rs1039220329
|
|
NM_000264.5(PTCH1):c.*1757C>T
|
rs1837735115
|
|
NM_000264.5(PTCH1):c.*1866TG[12]
|
rs59205702
|
|
NM_000264.5(PTCH1):c.*186T>G
|
rs977327674
|
|
NM_000264.5(PTCH1):c.*2146A>G
|
rs538345753
|
|
NM_000264.5(PTCH1):c.*2263T>A
|
rs1837680803
|
|
NM_000264.5(PTCH1):c.*2288dup
|
rs548096592
|
|
NM_000264.5(PTCH1):c.*2414C>G
|
rs776036229
|
|
NM_000264.5(PTCH1):c.*3213T>C
|
rs992312438
|
|
NM_000264.5(PTCH1):c.*592C>T
|
rs890920802
|
|
NM_000264.5(PTCH1):c.*62C>T
|
rs1837877053
|
|
NM_000264.5(PTCH1):c.*903G>A
|
rs188320042
|
|
NM_000264.5(PTCH1):c.*943T>C
|
rs538912814
|
|
NM_000264.5(PTCH1):c.-4_-2dup
|
rs1843916701
|
|
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
|
|
|
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
|
|
|
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
|
|
|
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg)
|
rs2118391966
|
|
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
|
|
|
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
|
|
|
NM_000264.5(PTCH1):c.101G>A (p.Arg34Lys)
|
rs771847879
|
|
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met)
|
rs780256480
|
|
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu)
|
rs1564054554
|
|
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys)
|
rs2118390055
|
|
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
|
|
|
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala)
|
rs1841400368
|
|
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile)
|
rs1841400047
|
|
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe)
|
rs1060502279
|
|
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys)
|
rs2118388571
|
|
NM_000264.5(PTCH1):c.104G>C (p.Arg35Pro)
|
|
|
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=)
|
rs1841396845
|
|
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe)
|
rs1588608286
|
|
NM_000264.5(PTCH1):c.1067+5G>T
|
rs372657547
|
|
NM_000264.5(PTCH1):c.1067+6C>G
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.1067+6C>T
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.106A>C (p.Thr36Pro)
|
rs1843898216
|
|
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val)
|
rs1841334350
|
|
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
|
|
|
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val)
|
rs1302357924
|
|
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro)
|
rs2118368178
|
|
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
|
|
|
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile)
|
rs1841330687
|
|
NM_000264.5(PTCH1):c.1092C>G (p.Phe364Leu)
|
rs2118367698
|
|
NM_000264.5(PTCH1):c.109G>A (p.Gly37Arg)
|
rs199976372
|
|
NM_000264.5(PTCH1):c.10G>A (p.Ala4Thr)
|
|
|
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met)
|
rs768024586
|
|
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala)
|
rs748780206
|
|
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
|
|
|
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
|
|
|
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
|
|
|
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
|
|
|
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu)
|
rs1588605721
|
|
NM_000264.5(PTCH1):c.112G>A (p.Gly38Arg)
|
rs45574039
|
|
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.1136A>G (p.Tyr379Cys)
|
rs1841324703
|
|
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile)
|
rs1841323482
|
|
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp)
|
rs2118365949
|
|
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
|
|
|
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro)
|
rs1220687550
|
|
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr)
|
rs2118365611
|
|
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser)
|
rs1564053157
|
|
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
|
|
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His)
|
rs1588605451
|
|
NM_000264.5(PTCH1):c.116T>A (p.Leu39Gln)
|
rs768063889
|
|
NM_000264.5(PTCH1):c.116T>C (p.Leu39Pro)
|
|
|
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg)
|
rs1554699163
|
|
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu)
|
rs202020837
|
|
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val)
|
rs2118364801
|
|
NM_000264.5(PTCH1):c.118C>T (p.Arg40Cys)
|
rs1843895996
|
|
NM_000264.5(PTCH1):c.119G>T (p.Arg40Leu)
|
rs755400723
|
|
NM_000264.5(PTCH1):c.11C>G (p.Ala4Gly)
|
rs540045689
|
|
NM_000264.5(PTCH1):c.11C>T (p.Ala4Val)
|
rs540045689
|
|
NM_000264.5(PTCH1):c.11_12delinsGG (p.Ala4Gly)
|
rs2118910638
|
|
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys)
|
rs1588605278
|
|
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
|
|
|
NM_000264.5(PTCH1):c.1215+4A>T
|
|
|
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
|
|
|
NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser)
|
rs1554709496
|
|
NM_000264.5(PTCH1):c.121C>G (p.Arg41Gly)
|
|
|
NM_000264.5(PTCH1):c.121C>T (p.Arg41Cys)
|
rs1554709496
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg)
|
rs1841233191
|
|
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
|
|
|
NM_000264.5(PTCH1):c.122G>C (p.Arg41Pro)
|
|
|
NM_000264.5(PTCH1):c.122G>T (p.Arg41Leu)
|
rs1554709493
|
|
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
|
|
|
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser)
|
rs2118338120
|
|
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys)
|
rs1588602943
|
|
NM_000264.5(PTCH1):c.124G>C (p.Ala42Pro)
|
rs2118908042
|
|
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg)
|
rs1060502270
|
|
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
|
|
|
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu)
|
rs202136156
|
|
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe)
|
rs1841229239
|
|
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe)
|
rs1285775586
|
|
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
|
|
|
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
|
|
|
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
|
|
|
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
|
|
|
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1283A>T (p.Asp428Val)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly)
|
rs1588602719
|
|
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val)
|
rs1416185684
|
|
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro)
|
rs1564051512
|
|
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
|
|
|
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn)
|
rs1564051490
|
|
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
|
|
|
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu)
|
rs2118332463
|
|
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser)
|
rs1841222850
|
|
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
|
|
|
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys)
|
rs2118332232
|
|
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
|
|
|
NM_000264.5(PTCH1):c.1309G>A (p.Val437Ile)
|
rs1293146883
|
|
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly)
|
rs2118331535
|
|
NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)
|
|
|
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg)
|
rs1588602538
|
|
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
|
|
|
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro)
|
rs767273237
|
|
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
|
|
|
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser)
|
rs2118330345
|
|
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn)
|
rs1588602411
|
|
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg)
|
rs373930674
|
|
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser)
|
rs2118329828
|
|
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp)
|
rs2118329688
|
|
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)
|
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del)
|
rs1554698774
|
|
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg)
|
rs1841214843
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1347+6G>C
|
|
|
NM_000264.5(PTCH1):c.1347+6G>T
|
rs372655486
|
|
NM_000264.5(PTCH1):c.134C>T (p.Pro45Leu)
|
|
|
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
|
|
|
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys)
|
rs1255345516
|
|
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro)
|
rs1841168008
|
|
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
|
|
|
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg)
|
rs2118310654
|
|
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
|
|
|
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg)
|
rs1841166322
|
|
NM_000264.5(PTCH1):c.137A>C (p.Asp46Ala)
|
rs1587700483
|
|
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser)
|
rs1588600865
|
|
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
|
|
|
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
|
|
|
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
|
|
|
NM_000264.5(PTCH1):c.139C>G (p.Arg47Gly)
|
rs138729094
|
|
NM_000264.5(PTCH1):c.13G>A (p.Gly5Ser)
|
rs1843915589
|
|
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
|
|
|
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met)
|
rs1438523462
|
|
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg)
|
rs1564050210
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.140G>A (p.Arg47Gln)
|
rs775408408
|
|
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)
|
rs775408408
|
|
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
|
|
|
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp)
|
rs1841159429
|
|
NM_000264.5(PTCH1):c.142G>A (p.Asp48Asn)
|
rs745685305
|
|
NM_000264.5(PTCH1):c.142G>C (p.Asp48His)
|
rs745685305
|
|
NM_000264.5(PTCH1):c.142_156dup (p.Arg52_Pro53insAspTyrLeuHisArg)
|
|
|
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
|
|
|
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
|
|
|
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
|
|
|
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala)
|
rs2118304226
|
|
NM_000264.5(PTCH1):c.146A>T (p.Tyr49Phe)
|
rs774156512
|
|
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg)
|
rs2118303660
|
|
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=)
|
rs1057515720
|
|
NM_000264.5(PTCH1):c.147_164del (p.Leu50_Tyr55del)
|
rs1843889325
|
|
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala)
|
rs1057515719
|
|
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
|
|
|
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
|
|
|
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile)
|
rs2118303008
|
|
NM_000264.5(PTCH1):c.148C>A (p.Leu50Met)
|
|
|
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr)
|
rs1841150573
|
|
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys)
|
rs1298115628
|
|
NM_000264.5(PTCH1):c.14G>A (p.Gly5Asp)
|
|
|
NM_000264.5(PTCH1):c.1503+17T>G
|
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1504-3T>C
|
rs1588598721
|
|
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp)
|
rs1841078928
|
|
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
|
|
|
NM_000264.5(PTCH1):c.151C>T (p.His51Tyr)
|
rs1843891102
|
|
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn)
|
rs1588598595
|
|
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val)
|
rs1564048907
|
|
NM_000264.5(PTCH1):c.153C>A (p.His51Gln)
|
|
|
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
|
|
|
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile)
|
rs2118283531
|
|
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)
|
rs1554698288
|
|
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe)
|
rs2118283054
|
|
NM_000264.5(PTCH1):c.154C>G (p.Arg52Gly)
|
rs1587700366
|
|
NM_000264.5(PTCH1):c.154C>T (p.Arg52Trp)
|
rs1587700366
|
|
NM_000264.5(PTCH1):c.1550T>C (p.Leu517Pro)
|
|
|
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)
|
rs1841075494
|
|
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr)
|
rs1554698275
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val)
|
rs755139183
|
|
NM_000264.5(PTCH1):c.1566C>G (p.Phe522Leu)
|
rs2118281892
|
|
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly)
|
rs2118281828
|
|
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala)
|
rs2118281472
|
|
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
|
|
|
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu)
|
rs1841074166
|
|
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser)
|
rs1841073512
|
|
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu)
|
rs780434261
|
|
NM_000264.5(PTCH1):c.1589G>A (p.Arg530Lys)
|
rs1841073027
|
|
NM_000264.5(PTCH1):c.158C>A (p.Pro53His)
|
rs372546614
|
|
NM_000264.5(PTCH1):c.158C>G (p.Pro53Arg)
|
rs372546614
|
|
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys)
|
rs1323512738
|
|
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
|
|
|
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile)
|
rs2118261336
|
|
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg)
|
rs1347882326
|
|
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
|
|
|
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln)
|
rs2118260596
|
|
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp)
|
rs1221665069
|
|
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
|
|
|
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
|
|
|
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
|
|
|
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
|
|
|
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala)
|
rs1841014826
|
|
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile)
|
rs1841014632
|
|
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
|
|
|
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
|
|
|
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His)
|
rs1843889465
|
|
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
|
|
|
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys)
|
rs1205081001
|
|
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
|
|
|
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)
|
|
|
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala)
|
rs1841012358
|
|
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
|
|
|
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr)
|
rs148367880
|
|
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
|
|
|
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr)
|
rs2118253278
|
|
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
|
|
|
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
|
|
|
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
|
|
|
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser)
|
rs1564046809
|
|
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
|
|
|
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
|
|
|
NM_000264.5(PTCH1):c.1682T>C (p.Met561Thr)
|
|
|
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile)
|
rs1841007617
|
|
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr)
|
rs146616780
|
|
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met)
|
rs1564046738
|
|
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val)
|
rs200504753
|
|
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
|
|
|
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp)
|
rs1587701202
|
|
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr)
|
rs753240797
|
|
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
|
|
|
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
|
|
|
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val)
|
rs1841004985
|
|
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
|
|
|
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser)
|
rs1588596119
|
|
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val)
|
rs1485556285
|
|
NM_000264.5(PTCH1):c.1719C>G (p.Phe573Leu)
|
|
|
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe)
|
rs1841002219
|
|
NM_000264.5(PTCH1):c.1728+3G>A
|
|
|
NM_000264.5(PTCH1):c.1728+3G>C
|
rs1588596061
|
|
NM_000264.5(PTCH1):c.1728+6C>A
|
rs761805788
|
|
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His)
|
rs1841001917
|
|
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr)
|
rs1554695631
|
|
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr)
|
rs1249138008
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile)
|
rs1840408569
|
|
NM_000264.5(PTCH1):c.173C>G (p.Ala58Gly)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.173C>T (p.Ala58Val)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.1741G>C (p.Val581Leu)
|
|
|
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
|
|
|
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr)
|
rs1699771172
|
|
NM_000264.5(PTCH1):c.1759A>G (p.Met587Val)
|
rs1840405779
|
|
NM_000264.5(PTCH1):c.1760T>C (p.Met587Thr)
|
rs1588578473
|
|
NM_000264.5(PTCH1):c.1761G>T (p.Met587Ile)
|
|
|
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe)
|
rs2118095021
|
|
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
|
|
|
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser)
|
rs2118094624
|
|
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser)
|
rs2118093961
|
|
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
|
|
|
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
|
|
|
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys)
|
rs2118092432
|
|
NM_000264.5(PTCH1):c.1811A>G (p.Glu604Gly)
|
rs756951491
|
|
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
|
|
|
NM_000264.5(PTCH1):c.1822C>G (p.Leu608Val)
|
rs1840400624
|
|
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val)
|
rs1588578266
|
|
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
|
|
|
NM_000264.5(PTCH1):c.1840T>C (p.Phe614Leu)
|
rs1193948667
|
|
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly)
|
rs1131690983
|
|
NM_000264.5(PTCH1):c.1847+4C>T
|
rs2118088023
|
|
NM_000264.5(PTCH1):c.1847+5A>G
|
rs1286074829
|
|
NM_000264.5(PTCH1):c.1847+6T>C
|
rs2118087853
|
|
NM_000264.5(PTCH1):c.1847G>A (p.Ser616Asn)
|
|
|
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
|
|
|
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val)
|
rs1843886204
|
|
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg)
|
rs2118062260
|
|
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met)
|
rs765258547
|
|
NM_000264.5(PTCH1):c.1865T>A (p.Val622Glu)
|
|
|
NM_000264.5(PTCH1):c.1871A>G (p.Gln624Arg)
|
rs1840322792
|
|
NM_000264.5(PTCH1):c.1874T>A (p.Val625Asp)
|
rs1175793715
|
|
NM_000264.5(PTCH1):c.187G>A (p.Glu63Lys)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser)
|
rs1840320961
|
|
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
|
|
|
NM_000264.5(PTCH1):c.1895A>G (p.Asp632Gly)
|
|
|
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu)
|
rs2118057608
|
|
NM_000264.5(PTCH1):c.1897A>G (p.Thr633Ala)
|
rs1840319889
|
|
NM_000264.5(PTCH1):c.189G>C (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.18C>A (p.Asn6Lys)
|
rs878853848
|
|
NM_000264.5(PTCH1):c.18C>G (p.Asn6Lys)
|
|
|
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn)
|
rs764218645
|
|
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln)
|
rs761015917
|
|
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
|
|
|
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala)
|
rs200321717
|
|
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val)
|
rs200321717
|
|
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
|
|
|
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser)
|
rs1588575591
|
|
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
|
|
|
NM_000264.5(PTCH1):c.1910C>A (p.Thr637Asn)
|
|
|
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
|
|
|
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly)
|
rs1840315398
|
|
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
|
|
|
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg)
|
rs762371629
|
|
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
|
|
|
NM_000264.5(PTCH1):c.192G>C (p.Gln64His)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
|
|
|
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr)
|
rs1840312910
|
|
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly)
|
rs1588575341
|
|
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys)
|
rs2118052357
|
|
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg)
|
rs2118052149
|
|
NM_000264.5(PTCH1):c.1942C>T (p.His648Tyr)
|
|
|
NM_000264.5(PTCH1):c.1943A>G (p.His648Arg)
|
|
|
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile)
|
rs2118051663
|
|
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr)
|
rs1843885007
|
|
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val)
|
rs1554695145
|
|
NM_000264.5(PTCH1):c.1965G>T (p.Gln655His)
|
rs2118049998
|
|
NM_000264.5(PTCH1):c.1969A>T (p.Thr657Ser)
|
rs1564033929
|
|
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr)
|
rs2118048874
|
|
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr)
|
rs1025299062
|
|
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
|
|
|
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile)
|
rs1332668908
|
|
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val)
|
rs1564033840
|
|
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
|
|
|
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala)
|
rs2118046932
|
|
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
|
|
|
NM_000264.5(PTCH1):c.2002T>A (p.Tyr668Asn)
|
rs1564033766
|
|
NM_000264.5(PTCH1):c.2003_2004delinsTA (p.Tyr668Leu)
|
|
|
NM_000264.5(PTCH1):c.2007C>A (p.Asp669Glu)
|
|
|
NM_000264.5(PTCH1):c.2007C>G (p.Asp669Glu)
|
|
|
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu)
|
rs2118046186
|
|
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr)
|
rs1843883983
|
|
NM_000264.5(PTCH1):c.201+2_201+3dup
|
rs2118906154
|
|
NM_000264.5(PTCH1):c.201+3G>A
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+3G>T
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+5A>G
|
rs1843883183
|
|
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp)
|
rs376678753
|
|
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
|
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
NM_000264.5(PTCH1):c.202-3C>T
|
rs1353756463
|
|
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
|
|
|
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His)
|
rs2118044840
|
|
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
|
|
|
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
|
|
|
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
|
|
|
NM_000264.5(PTCH1):c.2042C>G (p.Pro681Arg)
|
rs1588574709
|
|
NM_000264.5(PTCH1):c.2042C>T (p.Pro681Leu)
|
|
|
NM_000264.5(PTCH1):c.2044C>G (p.Arg682Gly)
|
rs570441437
|
|
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
|
|
|
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys)
|
rs1373585633
|
|
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
|
|
|
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
|
|
|
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu)
|
rs750970743
|
|
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala)
|
rs1840294655
|
|
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile)
|
rs1840294159
|
|
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
|
|
|
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
|
|
|
NM_000264.5(PTCH1):c.2083G>A (p.Asp695Asn)
|
rs2118039182
|
|
NM_000264.5(PTCH1):c.2085C>A (p.Asp695Glu)
|
rs1452372504
|
|
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
|
|
|
NM_000264.5(PTCH1):c.2086A>T (p.Thr696Ser)
|
rs1588574496
|
|
NM_000264.5(PTCH1):c.2090T>C (p.Leu697Pro)
|
|
|
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg)
|
rs199892130
|
|
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
|
|
|
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser)
|
rs547829353
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000264.5(PTCH1):c.20C>G (p.Ala7Gly)
|
rs1564092028
|
|
NM_000264.5(PTCH1):c.20C>T (p.Ala7Val)
|
rs1564092028
|
|
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser)
|
rs2118037487
|
|
NM_000264.5(PTCH1):c.2107G>A (p.Glu703Lys)
|
rs2118037130
|
|
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly)
|
rs1182895378
|
|
NM_000264.5(PTCH1):c.2111G>A (p.Ser704Asn)
|
|
|
NM_000264.5(PTCH1):c.2112C>A (p.Ser704Arg)
|
|
|
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
|
|
|
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn)
|
rs140497736
|
|
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
|
|
|
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys)
|
rs1840288367
|
|
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
|
|
|
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
|
|
|
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys)
|
rs1840287540
|
|
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
|
|
|
NM_000264.5(PTCH1):c.2134C>G (p.Leu712Val)
|
rs587780696
|
|
NM_000264.5(PTCH1):c.2134C>T (p.Leu712Phe)
|
rs587780696
|
|
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
|
|
|
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys)
|
rs1554694963
|
|
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro)
|
rs1564033174
|
|
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
|
|
|
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr)
|
rs2118032855
|
|
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn)
|
rs1840282022
|
|
NM_000264.5(PTCH1):c.2156G>C (p.Ser719Thr)
|
rs1840282022
|
|
NM_000264.5(PTCH1):c.2159T>A (p.Leu720His)
|
|
|
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
|
|
|
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg)
|
rs1554694943
|
|
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln)
|
rs144501989
|
|
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His)
|
rs963297092
|
|
NM_000264.5(PTCH1):c.2179T>A (p.Cys727Ser)
|
rs779167673
|
|
NM_000264.5(PTCH1):c.2179T>G (p.Cys727Gly)
|
rs779167673
|
|
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
|
|
|
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
|
|
|
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys)
|
rs1131690992
|
|
NM_000264.5(PTCH1):c.2192C>T (p.Thr731Ile)
|
rs2118029007
|
|
NM_000264.5(PTCH1):c.2197T>C (p.Ser733Pro)
|
rs2118028468
|
|
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr)
|
rs2118027491
|
|
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
|
|
|
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg)
|
rs1185984575
|
|
NM_000264.5(PTCH1):c.2225C>T (p.Pro742Leu)
|
rs1185984575
|
|
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu)
|
rs1840271655
|
|
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
|
|
|
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe)
|
rs749283740
|
|
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
|
|
|
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
|
|
|
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln)
|
rs1840269986
|
|
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
|
|
|
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
|
|
|
NM_000264.5(PTCH1):c.2250+4_2250+5dup
|
|
|
NM_000264.5(PTCH1):c.2250+6C>T
|
|
|
NM_000264.5(PTCH1):c.2251-3C>G
|
rs1588569651
|
|
NM_000264.5(PTCH1):c.2254G>A (p.Val752Met)
|
rs2117976199
|
|
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met)
|
rs1588569635
|
|
NM_000264.5(PTCH1):c.2258T>C (p.Val753Ala)
|
rs1840114511
|
|
NM_000264.5(PTCH1):c.2260A>G (p.Ile754Val)
|
|
|
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr)
|
rs997156828
|
|
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala)
|
rs2117974684
|
|
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu)
|
rs1840110120
|
|
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile)
|
rs544963328
|
|
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
|
|
|
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
|
|
|
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
|
|
|
NM_000264.5(PTCH1):c.22G>A (p.Ala8Thr)
|
rs2118910390
|
|
NM_000264.5(PTCH1):c.22G>T (p.Ala8Ser)
|
rs2118910390
|
|
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser)
|
rs878853850
|
|
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
|
|
|
NM_000264.5(PTCH1):c.2312T>C (p.Val771Ala)
|
|
|
NM_000264.5(PTCH1):c.2315G>A (p.Arg772Lys)
|
rs1840106487
|
|
NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu)
|
rs141134542
|
|
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg)
|
rs2117971100
|
|
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
|
|
|
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)
|
rs923429610
|
|
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala)
|
rs869025270
|
|
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu)
|
rs1388496324
|
|
NM_000264.5(PTCH1):c.2338A>G (p.Ile780Val)
|
rs1388496324
|
|
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
|
|
|
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala)
|
rs2117968922
|
|
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
|
|
|
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=)
|
rs1060502293
|
|
NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly)
|
rs1060502293
|
|
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp)
|
rs1060502293
|
|
NM_000264.5(PTCH1):c.2348G>T (p.Arg783Leu)
|
rs779296683
|
|
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp)
|
rs1840099623
|
|
NM_000264.5(PTCH1):c.2356A>G (p.Arg786Gly)
|
rs2117967668
|
|
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
|
|
|
NM_000264.5(PTCH1):c.2359G>A (p.Glu787Lys)
|
|
|
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met)
|
rs1564088372
|
|
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
|
|
|
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly)
|
rs1588569206
|
|
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His)
|
rs1840096887
|
|
NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val)
|
rs1840096220
|
|
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu)
|
rs1060502300
|
|
NM_000264.5(PTCH1):c.2377G>A (p.Ala793Thr)
|
rs1554694390
|
|
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro)
|
rs1554694390
|
|
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
|
|
|
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
|
|
|
NM_000264.5(PTCH1):c.23C>T (p.Ala8Val)
|
rs1843914282
|
|
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu)
|
rs1840091372
|
|
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
|
|
|
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
|
|
|
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser)
|
rs1840091155
|
|
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr)
|
rs1554694376
|
|
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)
|
rs1554694372
|
|
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile)
|
rs2117961342
|
|
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr)
|
rs2118880380
|
|
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile)
|
rs1840089871
|
|
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu)
|
rs1840089681
|
|
NM_000264.5(PTCH1):c.2423A>G (p.Gln808Arg)
|
|
|
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly)
|
rs1843664597
|
|
NM_000264.5(PTCH1):c.2435A>G (p.Tyr812Cys)
|
|
|
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
|
|
|
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
|
|
|
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg)
|
rs1564030731
|
|
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro)
|
rs1564030723
|
|
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
|
|
|
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg)
|
rs1587693690
|
|
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
|
|
|
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
|
|
|
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser)
|
rs1174748645
|
|
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
|
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
|
|
|
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys)
|
rs2117951860
|
|
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr)
|
rs1060502269
|
|
NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile)
|
rs1840081126
|
|
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
|
|
|
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys)
|
rs1588568559
|
|
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
|
|
|
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
|
|
|
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
|
|
|
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
|
|
|
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
|
|
|
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His)
|
rs41313327
|
|
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro)
|
rs1554694254
|
|
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro)
|
rs587778628
|
|
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
|
|
|
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn)
|
rs2136689511
|
|
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
|
|
|
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys)
|
rs1277861627
|
|
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser)
|
rs1839515437
|
|
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu)
|
rs863224651
|
|
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del)
|
rs1060502296
|
|
NM_000264.5(PTCH1):c.25G>A (p.Glu9Lys)
|
rs1843914121
|
|
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val)
|
rs2136689015
|
|
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys)
|
rs1345518847
|
|
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile)
|
rs2136688957
|
|
NM_000264.5(PTCH1):c.2615A>C (p.Asn872Thr)
|
rs769029578
|
|
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His)
|
rs2136688723
|
|
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys)
|
rs1839512647
|
|
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu)
|
rs2136688658
|
|
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
|
|
|
NM_000264.5(PTCH1):c.2634C>G (p.Asp878Glu)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
|
|
|
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala)
|
rs1839509519
|
|
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
|
|
|
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys)
|
rs2136687938
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
|
|
|
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
|
|
|
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg)
|
rs1843661629
|
|
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
|
|
|
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr)
|
rs1839503876
|
|
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu)
|
rs1839503471
|
|
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
|
|
|
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
|
|
|
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met)
|
rs1588551373
|
|
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
|
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
NM_000264.5(PTCH1):c.2703+4C>T
|
rs1839501465
|
|
NM_000264.5(PTCH1):c.2703+6C>G
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2703+6C>T
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=)
|
rs1348603148
|
|
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
|
|
|
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser)
|
rs1564021882
|
|
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln)
|
rs2136673392
|
|
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
|
|
|
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys)
|
rs864622088
|
|
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys)
|
rs1588545099
|
|
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
|
|
|
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
|
|
|
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val)
|
rs1839297206
|
|
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu)
|
rs1839296987
|
|
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu)
|
rs1588544970
|
|
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile)
|
rs1588544954
|
|
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr)
|
rs2136672620
|
|
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met)
|
rs1564021738
|
|
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser)
|
rs2136672306
|
|
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
|
|
|
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
|
|
|
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys)
|
rs786204224
|
|
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr)
|
rs1554691690
|
|
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys)
|
rs1564088256
|
|
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
|
|
|
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
|
rs1839290937
|
|
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val)
|
rs768558478
|
|
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro)
|
rs1554691676
|
|
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser)
|
rs1588544538
|
|
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
|
rs1843660253
|
|
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe)
|
rs1839284772
|
|
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu)
|
rs778810550
|
|
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His)
|
rs587780534
|
|
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
|
|
|
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp)
|
rs1564021422
|
|
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser)
|
rs749406453
|
|
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met)
|
rs1839283096
|
|
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly)
|
rs756465236
|
|
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.2827C>T (p.Pro943Ser)
|
|
|
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr)
|
rs1588544426
|
|
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
|
|
|
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
|
|
|
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
|
|
|
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr)
|
rs1588544328
|
|
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
|
|
|
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His)
|
rs2136670259
|
|
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
|
|
|
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu)
|
rs532713234
|
|
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg)
|
rs1376533047
|
|
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
|
|
|
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=)
|
rs1839273856
|
|
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu)
|
rs2136669790
|
|
NM_000264.5(PTCH1):c.2887+4A>G
|
rs1588544193
|
|
NM_000264.5(PTCH1):c.2887+4_2887+7del
|
rs2136669708
|
|
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met)
|
rs878853853
|
|
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
|
|
|
NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser)
|
rs1587701162
|
|
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
|
|
|
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met)
|
rs748318700
|
|
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro)
|
rs2136662633
|
|
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
|
|
|
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His)
|
rs1564019804
|
|
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu)
|
rs1588540820
|
|
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
|
|
|
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro)
|
rs863224652
|
|
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His)
|
rs1588540767
|
|
NM_000264.5(PTCH1):c.2936A>T (p.Asn979Ile)
|
|
|
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
|
|
|
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
|
|
|
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
|
|
|
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser)
|
rs1839130173
|
|
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
|
|
|
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val)
|
rs753884837
|
|
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val)
|
rs1189382722
|
|
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
|
|
|
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg)
|
rs2136661892
|
|
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile)
|
rs1588540545
|
|
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys)
|
rs1839126241
|
|
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn)
|
rs2136661772
|
|
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr)
|
rs1839124943
|
|
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
|
|
|
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys)
|
rs2136661651
|
|
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
|
|
|
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys)
|
rs1839124423
|
|
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)
|
rs864622620
|
|
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg)
|
rs1564019538
|
|
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu)
|
rs1839122259
|
|
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
|
|
|
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro)
|
rs1839121774
|
|
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
|
|
|
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala)
|
rs1588540255
|
|
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser)
|
rs1588540255
|
|
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
|
|
|
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
|
|
|
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del)
|
rs2136660602
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys)
|
rs752317944
|
|
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala)
|
rs1588540060
|
|
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys)
|
rs1839109856
|
|
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg)
|
rs763031827
|
|
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln)
|
rs2136660617
|
|
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
|
|
|
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu)
|
rs1839103824
|
|
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg)
|
rs2136660230
|
|
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
|
|
|
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile)
|
rs2136660189
|
|
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala)
|
rs1839101189
|
|
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
|
|
|
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
|
|
|
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
|
|
|
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile)
|
rs1564019097
|
|
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys)
|
rs1839099591
|
|
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
|
|
|
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile)
|
rs1053698119
|
|
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys)
|
rs1588539644
|
|
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly)
|
rs1564019039
|
|
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg)
|
rs2136659721
|
|
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
|
|
|
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=)
|
rs1588539563
|
|
NM_000264.5(PTCH1):c.3168+6T>A
|
rs1839094345
|
|
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met)
|
rs1838934517
|
|
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
|
|
|
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala)
|
rs1838931276
|
|
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe)
|
rs2118876683
|
|
NM_000264.5(PTCH1):c.31C>A (p.Gln11Lys)
|
|
|
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3205G>A (p.Gly1069Ser)
|
rs2136649648
|
|
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val)
|
rs1588535858
|
|
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg)
|
rs2136649542
|
|
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
|
|
|
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
|
|
|
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro)
|
rs1554691033
|
|
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr)
|
rs2118876529
|
|
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His)
|
rs2136648648
|
|
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
|
|
|
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe)
|
rs1838922991
|
|
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
|
|
|
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
|
|
|
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val)
|
rs777291938
|
|
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>T (p.Ala1088Val)
|
rs1838920838
|
|
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
|
|
|
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val)
|
rs2136647902
|
|
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
|
|
|
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met)
|
rs1588535447
|
|
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln)
|
rs1588535427
|
|
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu)
|
rs745563970
|
|
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
|
|
|
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg)
|
rs1843654942
|
|
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val)
|
rs1554690984
|
|
NM_000264.5(PTCH1):c.3306+5G>A
|
rs587780701
|
|
NM_000264.5(PTCH1):c.3306+6G>T
|
rs777678813
|
|
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=)
|
rs1564017035
|
|
NM_000264.5(PTCH1):c.3307-3C>T
|
|
|
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser)
|
rs1838668785
|
|
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu)
|
rs1554690489
|
|
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
|
|
|
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg)
|
rs2136632174
|
|
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
|
|
|
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
|
|
|
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
|
|
|
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
|
|
|
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=)
|
rs1838662525
|
|
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys)
|
rs1838662287
|
|
NM_000264.5(PTCH1):c.3362A>G (p.His1121Arg)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val)
|
rs1838661361
|
|
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys)
|
rs929802114
|
|
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
|
|
|
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
|
|
|
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe)
|
rs147025073
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
|
|
|
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)
|
rs1131690996
|
|
NM_000264.5(PTCH1):c.33G>C (p.Gln11His)
|
rs1320203029
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
NM_000264.5(PTCH1):c.340G>A (p.Val114Met)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
|
|
|
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=)
|
rs778900289
|
|
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
|
|
|
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
|
|
|
NM_000264.5(PTCH1):c.3449+3A>G
|
rs201942643
|
|
NM_000264.5(PTCH1):c.3449+6C>T
|
rs2136630772
|
|
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
|
|
|
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly)
|
rs1838315753
|
|
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
|
|
|
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
|
|
|
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val)
|
rs1838315273
|
|
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro)
|
rs1588519508
|
|
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe)
|
rs2136608105
|
|
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser)
|
rs1271099813
|
|
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=)
|
rs1838309835
|
|
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
|
|
|
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe)
|
rs1838309603
|
|
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
|
|
|
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del)
|
rs1838308465
|
|
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met)
|
rs1588519372
|
|
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
|
|
|
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
|
|
|
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys)
|
rs864622160
|
|
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
|
|
|
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala)
|
rs1314555601
|
|
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
|
|
|
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3549+4A>T
|
|
|
NM_000264.5(PTCH1):c.3549+5G>T
|
rs565899674
|
|
NM_000264.5(PTCH1):c.3550-10C>A
|
rs2136603294
|
|
NM_000264.5(PTCH1):c.3550-4A>G
|
rs1838244885
|
|
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
|
|
|
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
|
|
|
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu)
|
rs1838242467
|
|
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr)
|
rs1838241713
|
|
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp)
|
rs1319757275
|
|
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys)
|
rs864622621
|
|
NM_000264.5(PTCH1):c.3565G>C (p.Gly1189Arg)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu)
|
rs762040036
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile)
|
rs1588517836
|
|
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser)
|
rs1588517811
|
|
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
|
|
|
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)
|
rs1588517764
|
|
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg)
|
rs1564008924
|
|
NM_000264.5(PTCH1):c.3593C>T (p.Pro1198Leu)
|
|
|
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
|
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His)
|
rs1838233041
|
|
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1384935549
|
|
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
|
|
|
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs)
|
rs2136601667
|
|
NM_000264.5(PTCH1):c.3606dup (p.Ser1203fs)
|
|
|
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
|
|
|
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.360C>G (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp)
|
rs775882469
|
|
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
|
|
|
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.3628C>T (p.Pro1210Ser)
|
|
|
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs)
|
rs2136600953
|
|
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala)
|
rs1564008713
|
|
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)
|
rs1554689404
|
|
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
|
|
|
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg)
|
rs377608291
|
|
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp)
|
rs768986314
|
|
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys)
|
rs374150356
|
|
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
|
|
|
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala)
|
rs1838222745
|
|
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.365A>C (p.Glu122Ala)
|
rs1843650243
|
|
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
|
|
|
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
|
|
|
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe)
|
rs1838221565
|
|
NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)
|
|
|
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
|
|
|
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
|
|
|
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys)
|
rs2136599880
|
|
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter)
|
rs1588517196
|
|
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg)
|
rs1838218958
|
|
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser)
|
rs1838218744
|
|
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile)
|
rs1843649762
|
|
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
|
|
|
NM_000264.5(PTCH1):c.36C>A (p.Asp12Glu)
|
rs1057522533
|
|
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro)
|
rs1838217335
|
|
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg)
|
rs1051927200
|
|
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr)
|
rs2136598509
|
|
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
|
|
|
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del)
|
rs760239449
|
|
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
|
|
|
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp)
|
rs1838214724
|
|
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
|
|
|
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs)
|
rs2136597743
|
|
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
|
|
|
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)
|
rs1838213882
|
|
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly)
|
rs1588516924
|
|
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val)
|
rs1588516924
|
|
NM_000264.5(PTCH1):c.3742G>A (p.Gly1248Arg)
|
rs2136597903
|
|
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
|
|
|
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg)
|
rs1838211042
|
|
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.3765C>A (p.Ile1255=)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3765C>G (p.Ile1255Met)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys)
|
rs750397931
|
|
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro)
|
rs1838207256
|
|
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile)
|
rs2136597007
|
|
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
|
|
|
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)
|
rs970679518
|
|
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu)
|
rs1838206596
|
|
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala)
|
rs1588516673
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu)
|
rs144312968
|
|
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
|
|
|
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
|
|
|
NM_000264.5(PTCH1):c.37C>A (p.Arg13Ser)
|
|
|
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys)
|
rs779791579
|
|
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser)
|
rs1554689262
|
|
NM_000264.5(PTCH1):c.3804+2dup
|
rs1588516590
|
|
NM_000264.5(PTCH1):c.3804+3_3804+6del
|
|
|
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr)
|
rs1554688752
|
|
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg)
|
rs1838057444
|
|
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu)
|
rs774167762
|
|
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr)
|
rs1838054298
|
|
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg)
|
rs755092661
|
|
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu)
|
rs2136584562
|
|
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser)
|
rs1166276004
|
|
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala)
|
rs2136584448
|
|
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
|
|
|
NM_000264.5(PTCH1):c.3845C>G (p.Pro1282Arg)
|
|
|
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter)
|
rs1838050037
|
|
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
|
|
|
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
|
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr)
|
rs1838047745
|
|
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del)
|
rs1064792957
|
|
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val)
|
rs1588512171
|
|
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg)
|
rs2136583470
|
|
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
|
|
|
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.3887G>T (p.Gly1296Val)
|
rs2136583024
|
|
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
|
|
|
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
|
|
|
NM_000264.5(PTCH1):c.38G>A (p.Arg13His)
|
rs1843911577
|
|
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
|
|
|
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
|
|
|
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys)
|
rs1838039734
|
|
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr)
|
rs1838039734
|
|
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser)
|
rs1169961504
|
|
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His)
|
rs864622483
|
|
NM_000264.5(PTCH1):c.391G>A (p.Glu131Lys)
|
rs1321623220
|
|
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
|
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.394+2dup
|
rs1587692814
|
|
NM_000264.5(PTCH1):c.394+4A>G
|
|
|
NM_000264.5(PTCH1):c.394+6A>T
|
|
|
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
|
|
|
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
|
|
|
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val)
|
rs2136581220
|
|
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe)
|
rs1588511695
|
|
NM_000264.5(PTCH1):c.3944_3945insT (p.Tyr1316fs)
|
rs1838031865
|
|
NM_000264.5(PTCH1):c.395-6T>G
|
rs1162835966
|
|
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser)
|
rs1211632031
|
|
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu)
|
rs572658914
|
|
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly)
|
rs1838027827
|
|
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
|
|
|
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
|
|
|
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)
|
rs896779358
|
|
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val)
|
rs1054532927
|
|
NM_000264.5(PTCH1):c.3968T>C (p.Phe1323Ser)
|
|
|
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
|
|
|
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
|
|
|
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala)
|
rs761753681
|
|
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg)
|
rs1564005652
|
|
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup)
|
rs1588511230
|
|
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr)
|
rs200620662
|
|
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg)
|
rs933654875
|
|
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
|
|
|
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys)
|
rs1838019737
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
|
|
|
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu)
|
rs771238114
|
|
NM_000264.5(PTCH1):c.4018G>A (p.Gly1340Ser)
|
|
|
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
|
|
|
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly)
|
rs781539921
|
|
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu)
|
rs575146278
|
|
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp)
|
rs200100952
|
|
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val)
|
rs1060502289
|
|
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe)
|
rs1554688418
|
|
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr)
|
rs760724368
|
|
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu)
|
rs2136578408
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=)
|
rs140417636
|
|
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser)
|
rs1588510932
|
|
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys)
|
rs1564005341
|
|
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu)
|
rs1022984391
|
|
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
|
|
|
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile)
|
rs779482395
|
|
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val)
|
rs2136577556
|
|
NM_000264.5(PTCH1):c.406G>A (p.Val136Ile)
|
rs1240746395
|
|
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
|
|
|
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
|
|
|
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
|
|
|
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro)
|
rs1838003007
|
|
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser)
|
rs1838001528
|
|
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
|
|
|
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys)
|
rs1838000346
|
|
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe)
|
rs1397510746
|
|
NM_000264.5(PTCH1):c.40G>A (p.Gly14Ser)
|
rs1233426743
|
|
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)
|
rs756897237
|
|
NM_000264.5(PTCH1):c.40GGC[6] (p.Gly16_Gly17dup)
|
rs756897237
|
|
NM_000264.5(PTCH1):c.40GGC[7] (p.Gly15_Gly17dup)
|
rs756897237
|
|
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
|
|
|
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile)
|
rs762925808
|
|
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
|
|
|
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
|
|
|
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met)
|
rs1837997469
|
|
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
|
|
|
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr)
|
rs1267726258
|
|
NM_000264.5(PTCH1):c.4118C>G (p.Ala1373Gly)
|
rs2136576006
|
|
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser)
|
rs769022340
|
|
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu)
|
rs745337014
|
|
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
|
|
|
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu)
|
rs2136575538
|
|
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu)
|
rs187104739
|
|
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro)
|
rs1837991686
|
|
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
|
|
|
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln)
|
rs1207158056
|
|
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg)
|
rs552921967
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
|
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])
|
rs1060502272
|
|
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs)
|
rs1837987148
|
|
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
|
|
|
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser)
|
rs1180812915
|
|
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu)
|
rs1837985984
|
|
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4168G>T (p.Gly1390Trp)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu)
|
rs1837985101
|
|
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
|
|
|
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr)
|
rs1388774785
|
|
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs)
|
rs1297699637
|
|
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
|
|
|
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=)
|
rs769616992
|
|
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
|
|
|
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val)
|
rs747923595
|
|
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs)
|
rs1588510168
|
|
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
|
|
|
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile)
|
rs1837978959
|
|
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe)
|
rs1837978959
|
|
NM_000264.5(PTCH1):c.4191_4192dup (p.Cys1398fs)
|
|
|
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg)
|
rs1372936088
|
|
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
|
|
|
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
|
|
|
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs)
|
rs1837977676
|
|
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu)
|
rs1564004776
|
|
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His)
|
rs2136573477
|
|
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
|
|
|
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys)
|
rs1837975310
|
|
NM_000264.5(PTCH1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly)
|
rs1837974768
|
|
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
|
|
|
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp)
|
rs1837973275
|
|
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln)
|
rs372558350
|
|
NM_000264.5(PTCH1):c.4218del (p.His1406fs)
|
rs2136573069
|
|
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
|
|
|
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp)
|
rs1841928550
|
|
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
|
|
|
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys)
|
rs1554688143
|
|
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu)
|
rs1434554186
|
|
NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly)
|
rs774913538
|
|
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
|
|
|
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu)
|
rs2136572617
|
|
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala)
|
rs1554688130
|
|
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser)
|
rs1554688130
|
|
NM_000264.5(PTCH1):c.4238A>G (p.His1413Arg)
|
|
|
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
|
|
|
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
|
|
|
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
|
|
|
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala)
|
rs1837967897
|
|
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu)
|
rs1554688102
|
|
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
|
|
|
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys)
|
rs1837966836
|
|
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
|
|
|
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe)
|
rs369882883
|
|
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala)
|
rs2136572074
|
|
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
|
|
|
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr)
|
rs913816675
|
|
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
|
|
|
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys)
|
rs575473447
|
|
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly)
|
rs1246323077
|
|
NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly)
|
|
|
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
|
|
|
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
|
|
|
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr)
|
rs1837962537
|
|
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
|
|
|
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
|
|
|
NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
|
|
|
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
|
|
|
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala)
|
rs1060502283
|
|
NM_000264.5(PTCH1):c.4282G>A (p.Glu1428Lys)
|
|
|
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
|
|
|
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln)
|
rs755078405
|
|
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
|
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly)
|
rs2136571074
|
|
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
|
|
|
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly)
|
rs2136570975
|
|
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
|
|
|
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp)
|
rs368571026
|
|
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
|
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
|
|
|
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly)
|
rs1564004291
|
|
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys)
|
rs1354112241
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly)
|
rs143464326
|
|
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu)
|
rs56023271
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
|
|
|
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn)
|
rs1347860599
|
|
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe)
|
rs2136570475
|
|
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
|
|
|
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
|
|
|
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
|
|
|
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val)
|
rs1564063300
|
|
NM_000264.5(PTCH1):c.43G>A (p.Gly15Ser)
|
rs1240000266
|
|
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr)
|
rs1588622790
|
|
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile)
|
rs1302474403
|
|
NM_000264.5(PTCH1):c.469C>A (p.Leu157Ile)
|
|
|
NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro)
|
rs2118545890
|
|
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu)
|
rs758656848
|
|
NM_000264.5(PTCH1):c.472A>G (p.Met158Val)
|
rs758656848
|
|
NM_000264.5(PTCH1):c.474G>A (p.Met158Ile)
|
|
|
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val)
|
rs1060502288
|
|
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg)
|
rs1060502267
|
|
NM_000264.5(PTCH1):c.47G>A (p.Gly16Asp)
|
rs1843909922
|
|
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
|
|
|
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
|
|
|
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu)
|
rs1588622580
|
|
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr)
|
rs56406491
|
|
NM_000264.5(PTCH1):c.488A>G (p.Lys163Arg)
|
rs56406491
|
|
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
|
|
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys)
|
rs2118544070
|
|
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser)
|
rs2118543729
|
|
NM_000264.5(PTCH1):c.49_57dup (p.Gly19_Cys20insGlySerGly)
|
|
|
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val)
|
rs587780707
|
|
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp)
|
rs2118543274
|
|
NM_000264.5(PTCH1):c.503A>C (p.Asn168Thr)
|
|
|
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
|
|
|
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile)
|
rs1554702106
|
|
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly)
|
rs772368023
|
|
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del)
|
rs864622108
|
|
NM_000264.5(PTCH1):c.52A>G (p.Ser18Gly)
|
rs1199437529
|
|
NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)
|
|
|
NM_000264.5(PTCH1):c.52_57dup (p.Ser18_Gly19dup)
|
rs1554709549
|
|
NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
|
rs1841912540
|
|
NM_000264.5(PTCH1):c.533A>G (p.His178Arg)
|
rs1588622337
|
|
NM_000264.5(PTCH1):c.538G>C (p.Asp180His)
|
rs1554702067
|
|
NM_000264.5(PTCH1):c.53G>T (p.Ser18Ile)
|
|
|
NM_000264.5(PTCH1):c.540C>G (p.Asp180Glu)
|
|
|
NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr)
|
rs2118539440
|
|
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val)
|
rs1276503562
|
|
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly)
|
rs1564062769
|
|
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys)
|
rs1554702047
|
|
NM_000264.5(PTCH1):c.55_57dup (p.Gly19dup)
|
rs1587700945
|
|
NM_000264.5(PTCH1):c.55_60del (p.Gly19_Cys20del)
|
rs1554709544
|
|
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu)
|
rs1841905841
|
|
NM_000264.5(PTCH1):c.56G>A (p.Gly19Asp)
|
rs587780708
|
|
NM_000264.5(PTCH1):c.56G>C (p.Gly19Ala)
|
|
|
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His)
|
rs1841905015
|
|
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
|
rs1554702009
|
|
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
|
|
|
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg)
|
rs1312950307
|
|
NM_000264.5(PTCH1):c.58T>A (p.Cys20Ser)
|
|
|
NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp)
|
rs767791358
|
|
NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
|
|
|
NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
|
|
|
NM_000264.5(PTCH1):c.59G>C (p.Cys20Ser)
|
|
|
NM_000264.5(PTCH1):c.5C>T (p.Ala2Val)
|
rs1843916565
|
|
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
|
|
|
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
|
|
|
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr)
|
rs1841595401
|
|
NM_000264.5(PTCH1):c.61A>G (p.Ile21Val)
|
rs756724967
|
|
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala)
|
rs2118473498
|
|
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val)
|
rs1588614551
|
|
NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe)
|
rs1588614551
|
|
NM_000264.5(PTCH1):c.62T>A (p.Ile21Asn)
|
rs1843904837
|
|
NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
|
|
|
NM_000264.5(PTCH1):c.63C>G (p.Ile21Met)
|
rs1284183739
|
|
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)
|
rs1284183739
|
|
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
|
|
|
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val)
|
rs2118472707
|
|
NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
|
|
|
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
|
|
|
NM_000264.5(PTCH1):c.654+3A>G
|
rs1131690966
|
|
NM_000264.5(PTCH1):c.65G>T (p.Gly22Val)
|
rs575700967
|
|
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys)
|
rs1554700647
|
|
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
|
|
|
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
|
|
|
NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
|
|
|
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
|
|
|
NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu)
|
rs2118465097
|
|
NM_000264.5(PTCH1):c.685A>G (p.Ile229Val)
|
rs1841575695
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser)
|
rs1564057856
|
|
NM_000264.5(PTCH1):c.6_11del (p.Ser3_Ala4del)
|
rs2118910700
|
|
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
|
|
|
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe)
|
rs1060502299
|
|
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr)
|
rs1841573078
|
|
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
|
|
|
NM_000264.5(PTCH1):c.71C>G (p.Pro24Arg)
|
rs767973616
|
|
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
|
|
|
NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser)
|
rs2118460143
|
|
NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg)
|
rs1841570436
|
|
NM_000264.5(PTCH1):c.73G>A (p.Gly25Arg)
|
|
|
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
|
|
|
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe)
|
rs1841568646
|
|
NM_000264.5(PTCH1):c.746+3A>G
|
rs1841567989
|
|
NM_000264.5(PTCH1):c.746+5G>C
|
|
|
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
|
|
|
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)
|
rs774712511
|
|
NM_000264.5(PTCH1):c.74_75delinsAT (p.Gly25Asp)
|
rs1843902347
|
|
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu)
|
rs2118428694
|
|
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
|
|
|
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
|
rs1554700016
|
|
NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp)
|
rs1408427240
|
|
NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
|
|
|
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
|
|
|
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
|
|
|
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
|
|
|
NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
|
|
|
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser)
|
rs1318134628
|
|
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys)
|
rs1588610385
|
|
NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
|
|
|
NM_000264.5(PTCH1):c.79C>G (p.Pro27Ala)
|
rs1245076183
|
|
NM_000264.5(PTCH1):c.79C>T (p.Pro27Ser)
|
rs1245076183
|
|
NM_000264.5(PTCH1):c.7T>A (p.Ser3Thr)
|
rs2118910766
|
|
NM_000264.5(PTCH1):c.7T>G (p.Ser3Ala)
|
rs2118910766
|
|
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg)
|
rs1841454562
|
|
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu)
|
rs2118422378
|
|
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
|
|
|
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
|
|
|
NM_000264.5(PTCH1):c.83C>T (p.Ala28Val)
|
rs1220641430
|
|
NM_000264.5(PTCH1):c.841A>G (p.Met281Val)
|
rs2118420301
|
|
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)
|
rs1564055682
|
|
NM_000264.5(PTCH1):c.849T>G (p.Asn283Lys)
|
|
|
NM_000264.5(PTCH1):c.850A>C (p.Lys284Gln)
|
rs1841450813
|
|
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys)
|
rs1841450226
|
|
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
|
|
|
NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg)
|
rs2118909022
|
|
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
|
|
|
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser)
|
rs2118418275
|
|
NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp)
|
rs864622130
|
|
NM_000264.5(PTCH1):c.86G>A (p.Gly29Glu)
|
rs2118909005
|
|
NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
|
|
|
NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
|
rs1588610088
|
|
NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys)
|
rs1841447254
|
|
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)
|
|
|
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
|
|
|
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln)
|
rs141939274
|
|
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
|
|
|
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
|
|
|
NM_000264.5(PTCH1):c.8C>G (p.Ser3Trp)
|
rs1587701230
|
|
NM_000264.5(PTCH1):c.8C>T (p.Ser3Leu)
|
rs1587701230
|
|
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr)
|
rs767601899
|
|
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala)
|
rs1197814180
|
|
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
|
|
|
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
|
|
|
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
|
|
|
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly)
|
rs2118413122
|
|
NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser)
|
rs2118412532
|
|
NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
|
|
|
NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
|
|
|
NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
|
|
|
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala)
|
rs2118411651
|
|
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
|
|
|
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu)
|
rs1564055253
|
|
NM_000264.5(PTCH1):c.945+3G>A
|
rs775144388
|
|
NM_000264.5(PTCH1):c.945+3_945+6del
|
rs1064795637
|
|
NM_000264.5(PTCH1):c.945+4A>C
|
rs1564055215
|
|
NM_000264.5(PTCH1):c.945+6dup
|
rs2118410569
|
|
NM_000264.5(PTCH1):c.946-19G>A
|
|
|
NM_000264.5(PTCH1):c.946-5T>C
|
rs1588608882
|
|
NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu)
|
rs143813198
|
|
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
|
rs1380199153
|
|
NM_000264.5(PTCH1):c.94A>G (p.Arg32Gly)
|
rs913603578
|
|
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
|
|
|
NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser)
|
rs1554699658
|
|
NM_000264.5(PTCH1):c.959C>T (p.Ala320Val)
|
rs2118395686
|
|
NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
|
|
|
NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
|
|
|
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met)
|
rs1358555059
|
|
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser)
|
rs1588608738
|
|
NM_000264.5(PTCH1):c.97C>T (p.Arg33Cys)
|
|
|
NM_000264.5(PTCH1):c.988T>G (p.Leu330Val)
|
rs1841408486
|
|
NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys)
|
rs1841408288
|
|
NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr)
|
rs1564054690
|
|
NM_000264.5(PTCH1):c.998A>T (p.Lys333Met)
|
rs1238175144
|
|
NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
|
|
|
NM_001083603.3(PTCH1):c.198+468G>T
|
rs1445378342
|
|
NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro)
|
|
|
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
|
|
|
NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser)
|
|
|
NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg)
|
|
|
NM_003738.5(PTCH2):c.106C>G (p.Leu36Val)
|
rs2148886480
|
|
NM_003738.5(PTCH2):c.1072C>T (p.Arg358Cys)
|
|
|
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu)
|
rs745653597
|
|
NM_003738.5(PTCH2):c.1083+5G>A
|
rs1653336998
|
|
NM_003738.5(PTCH2):c.1083G>C (p.Gln361His)
|
rs2148877935
|
|
NM_003738.5(PTCH2):c.1090C>T (p.Gln364Ter)
|
rs1315638429
|
|
NM_003738.5(PTCH2):c.1111G>A (p.Ala371Thr)
|
rs201191113
|
|
NM_003738.5(PTCH2):c.1111G>C (p.Ala371Pro)
|
rs201191113
|
|
NM_003738.5(PTCH2):c.1117C>T (p.Gln373Ter)
|
|
|
NM_003738.5(PTCH2):c.1127A>G (p.His376Arg)
|
|
|
NM_003738.5(PTCH2):c.1142C>T (p.Thr381Ile)
|
rs1653328317
|
|
NM_003738.5(PTCH2):c.116A>T (p.Tyr39Phe)
|
rs746706971
|
|
NM_003738.5(PTCH2):c.1172C>T (p.Ser391Phe)
|
rs1553165363
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_003738.5(PTCH2):c.1181G>A (p.Ser394Asn)
|
|
|
NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)
|
|
|
NM_003738.5(PTCH2):c.1189del (p.Arg397fs)
|
rs778199787
|
|
NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)
|
|
|
NM_003738.5(PTCH2):c.1210C>T (p.Leu404Phe)
|
|
|
NM_003738.5(PTCH2):c.1215+4G>A
|
|
|
NM_003738.5(PTCH2):c.1216-1G>C
|
rs781065537
|
|
NM_003738.5(PTCH2):c.1218G>A (p.Leu406=)
|
rs2148877355
|
|
NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter)
|
rs1573648782
|
|
NM_003738.5(PTCH2):c.126C>T (p.Gly42=)
|
rs771823715
|
|
NM_003738.5(PTCH2):c.1285G>A (p.Gly429Arg)
|
rs772212841
|
|
NM_003738.5(PTCH2):c.1292T>C (p.Leu431Pro)
|
|
|
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs)
|
rs1573648653
|
|
NM_003738.5(PTCH2):c.1297G>A (p.Val433Met)
|
|
|
NM_003738.5(PTCH2):c.1309G>A (p.Val437Met)
|
|
|
NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu)
|
|
|
NM_003738.5(PTCH2):c.1326del (p.Leu443fs)
|
rs755069524
|
|
NM_003738.5(PTCH2):c.1372-1G>T
|
|
|
NM_003738.5(PTCH2):c.1379C>A (p.Pro460His)
|
|
|
NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)
|
|
|
NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)
|
|
|
NM_003738.5(PTCH2):c.1417del (p.Leu473fs)
|
rs1653297701
|
|
NM_003738.5(PTCH2):c.1424C>A (p.Ala475Glu)
|
|
|
NM_003738.5(PTCH2):c.1427A>G (p.His476Arg)
|
rs1653296842
|
|
NM_003738.5(PTCH2):c.1448C>T (p.Pro483Leu)
|
rs2148876862
|
|
NM_003738.5(PTCH2):c.1465-1G>A
|
|
|
NM_003738.5(PTCH2):c.1468C>T (p.Arg490Cys)
|
|
|
NM_003738.5(PTCH2):c.1475G>T (p.Gly492Val)
|
rs1653276978
|
|
NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp)
|
|
|
NM_003738.5(PTCH2):c.1517C>A (p.Ser506Tyr)
|
rs1322200411
|
|
NM_003738.5(PTCH2):c.1523A>G (p.Asn508Ser)
|
|
|
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
|
|
|
NM_003738.5(PTCH2):c.1526dup (p.Asn509fs)
|
rs1329842135
|
|
NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr)
|
|
|
NM_003738.5(PTCH2):c.1543A>G (p.Met515Val)
|
|
|
NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr)
|
rs1382444662
|
|
NM_003738.5(PTCH2):c.1565C>T (p.Pro522Leu)
|
|
|
NM_003738.5(PTCH2):c.1568dup (p.Leu524fs)
|
|
|
NM_003738.5(PTCH2):c.1590+17G>A
|
rs753968565
|
|
NM_003738.5(PTCH2):c.1621G>T (p.Ala541Ser)
|
rs778833779
|
|
NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val)
|
|
|
NM_003738.5(PTCH2):c.1652G>T (p.Ser551Ile)
|
|
|
NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys)
|
|
|
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
|
|
|
NM_003738.5(PTCH2):c.1685_1709+14dup
|
|
|
NM_003738.5(PTCH2):c.1716del (p.Ser573fs)
|
|
|
NM_003738.5(PTCH2):c.1725G>A (p.Gln575=)
|
|
|
NM_003738.5(PTCH2):c.1726G>A (p.Val576Met)
|
rs867905557
|
|
NM_003738.5(PTCH2):c.172G>C (p.Val58Leu)
|
|
|
NM_003738.5(PTCH2):c.1737C>G (p.Ile579Met)
|
rs2148876037
|
|
NM_003738.5(PTCH2):c.1753G>C (p.Gly585Arg)
|
|
|
NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile)
|
rs1653965168
|
|
NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile)
|
|
|
NM_003738.5(PTCH2):c.1786C>G (p.Leu596Val)
|
rs2148875992
|
|
NM_003738.5(PTCH2):c.1795A>G (p.Thr599Ala)
|
|
|
NM_003738.5(PTCH2):c.1816T>C (p.Cys606Arg)
|
rs2148875968
|
|
NM_003738.5(PTCH2):c.1829G>T (p.Ser610Ile)
|
rs2148875950
|
|
NM_003738.5(PTCH2):c.1835A>C (p.His612Pro)
|
|
|
NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe)
|
rs1653244164
|
|
NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)
|
|
|
NM_003738.5(PTCH2):c.1927C>T (p.Arg643Trp)
|
|
|
NM_003738.5(PTCH2):c.1928G>A (p.Arg643Gln)
|
|
|
NM_003738.5(PTCH2):c.1930_1931insGGGGGGG (p.Asp644fs)
|
|
|
NM_003738.5(PTCH2):c.1932C>A (p.Asp644Glu)
|
|
|
NM_003738.5(PTCH2):c.1933C>T (p.Leu645Phe)
|
rs1557644727
|
|
NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp)
|
|
|
NM_003738.5(PTCH2):c.1987T>C (p.Cys663Arg)
|
rs775286824
|
|
NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly)
|
|
|
NM_003738.5(PTCH2):c.19C>T (p.Leu7Phe)
|
rs1030456781
|
|
NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala)
|
|
|
NM_003738.5(PTCH2):c.2018G>A (p.Arg673His)
|
rs760548568
|
|
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu)
|
rs760548568
|
|
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
|
|
|
NM_003738.5(PTCH2):c.2029G>C (p.Ala677Pro)
|
rs1557644638
|
|
NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr)
|
|
|
NM_003738.5(PTCH2):c.2033_2054dup (p.Lys686fs)
|
rs1653233688
|
|
NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu)
|
|
|
NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu)
|
|
|
NM_003738.5(PTCH2):c.2059G>T (p.Ala687Ser)
|
rs2148875596
|
|
NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)
|
|
|
NM_003738.5(PTCH2):c.2107G>A (p.Gly703Arg)
|
|
|
NM_003738.5(PTCH2):c.2148G>A (p.Val716=)
|
|
|
NM_003738.5(PTCH2):c.215G>A (p.Gly72Asp)
|
|
|
NM_003738.5(PTCH2):c.2162C>T (p.Thr721Ile)
|
rs1653221535
|
|
NM_003738.5(PTCH2):c.2174C>G (p.Ala725Gly)
|
rs1243955468
|
|
NM_003738.5(PTCH2):c.2177T>C (p.Phe726Ser)
|
|
|
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu)
|
rs1573645770
|
|
NM_003738.5(PTCH2):c.2180T>G (p.Leu727Arg)
|
rs2148875486
|
|
NM_003738.5(PTCH2):c.2185G>A (p.Ala729Thr)
|
rs765415578
|
|
NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser)
|
|
|
NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys)
|
|
|
NM_003738.5(PTCH2):c.2247C>A (p.Tyr749Ter)
|
rs779837932
|
|
NM_003738.5(PTCH2):c.2252A>T (p.His751Leu)
|
|
|
NM_003738.5(PTCH2):c.2257del (p.Gln753fs)
|
rs1653215847
|
|
NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser)
|
|
|
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
|
|
|
NM_003738.5(PTCH2):c.2275C>A (p.Leu759Met)
|
rs2148875383
|
|
NM_003738.5(PTCH2):c.2276T>A (p.Leu759Gln)
|
rs2148875381
|
|
NM_003738.5(PTCH2):c.2290A>G (p.Ser764Gly)
|
rs769359308
|
|
NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met)
|
|
|
NM_003738.5(PTCH2):c.2312C>A (p.Pro771His)
|
|
|
NM_003738.5(PTCH2):c.2312C>T (p.Pro771Leu)
|
|
|
NM_003738.5(PTCH2):c.2318C>T (p.Pro773Leu)
|
rs1404906503
|
|
NM_003738.5(PTCH2):c.2335C>G (p.Arg779Gly)
|
rs745750666
|
|
NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys)
|
|
|
NM_003738.5(PTCH2):c.2336G>A (p.Arg779His)
|
rs45493198
|
|
NM_003738.5(PTCH2):c.2336G>C (p.Arg779Pro)
|
|
|
NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys)
|
|
|
NM_003738.5(PTCH2):c.2361C>G (p.Asn787Lys)
|
rs1573645402
|
|
NM_003738.5(PTCH2):c.2366T>C (p.Leu789Pro)
|
|
|
NM_003738.5(PTCH2):c.236A>C (p.Glu79Ala)
|
|
|
NM_003738.5(PTCH2):c.2370G>A (p.Gln790=)
|
|
|
NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu)
|
rs1653198432
|
|
NM_003738.5(PTCH2):c.2379G>C (p.Gln793His)
|
|
|
NM_003738.5(PTCH2):c.2381C>G (p.Ala794Gly)
|
|
|
NM_003738.5(PTCH2):c.2411G>A (p.Arg804His)
|
rs770837969
|
|
NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala)
|
|
|
NM_003738.5(PTCH2):c.2417C>A (p.Thr806Asn)
|
rs139683072
|
|
NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu)
|
|
|
NM_003738.5(PTCH2):c.2432G>T (p.Arg811Leu)
|
rs112613379
|
|
NM_003738.5(PTCH2):c.2435A>G (p.Asn812Ser)
|
rs1218095612
|
|
NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe)
|
rs1182782050
|
|
NM_003738.5(PTCH2):c.2479A>T (p.Thr827Ser)
|
|
|
NM_003738.5(PTCH2):c.2483G>C (p.Gly828Ala)
|
rs761925367
|
|
NM_003738.5(PTCH2):c.2486_2487delinsTT (p.Asp829Val)
|
rs1553165053
|
|
NM_003738.5(PTCH2):c.2487C>A (p.Asp829Glu)
|
rs2295996
|
|
NM_003738.5(PTCH2):c.2488G>A (p.Ala830Thr)
|
|
|
NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu)
|
|
|
NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile)
|
|
|
NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe)
|
|
|
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys)
|
rs2148874807
|
|
NM_003738.5(PTCH2):c.2542G>A (p.Glu848Lys)
|
|
|
NM_003738.5(PTCH2):c.2553dup (p.Pro852fs)
|
|
|
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
|
|
|
NM_003738.5(PTCH2):c.2572A>G (p.Met858Val)
|
|
|
NM_003738.5(PTCH2):c.2572A>T (p.Met858Leu)
|
rs374498312
|
|
NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu)
|
|
|
NM_003738.5(PTCH2):c.2582C>G (p.Thr861Ser)
|
rs1452021020
|
|
NM_003738.5(PTCH2):c.2582C>T (p.Thr861Ile)
|
|
|
NM_003738.5(PTCH2):c.2584G>C (p.Val862Leu)
|
|
|
NM_003738.5(PTCH2):c.2602C>A (p.Pro868Thr)
|
rs1377075089
|
|
NM_003738.5(PTCH2):c.2605C>G (p.Leu869Val)
|
|
|
NM_003738.5(PTCH2):c.2605dup (p.Leu869fs)
|
rs1553165035
|
|
NM_003738.5(PTCH2):c.2642C>G (p.Pro881Arg)
|
|
|
NM_003738.5(PTCH2):c.2642C>T (p.Pro881Leu)
|
|
|
NM_003738.5(PTCH2):c.2642dup (p.Pro882fs)
|
rs1337855606
|
|
NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly)
|
|
|
NM_003738.5(PTCH2):c.2665_2666insTTCAGGGG (p.Lys889fs)
|
rs2148874605
|
|
NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His)
|
|
|
NM_003738.5(PTCH2):c.266T>C (p.Val89Ala)
|
rs752129680
|
|
NM_003738.5(PTCH2):c.2671G>A (p.Asp891Asn)
|
|
|
NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu)
|
|
|
NM_003738.5(PTCH2):c.2711C>T (p.Pro904Leu)
|
|
|
NM_003738.5(PTCH2):c.2728T>A (p.Phe910Ile)
|
rs2148874300
|
|
NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)
|
|
|
NM_003738.5(PTCH2):c.274C>T (p.Arg92Trp)
|
|
|
NM_003738.5(PTCH2):c.2754G>C (p.Gln918His)
|
rs2148874271
|
|
NM_003738.5(PTCH2):c.277G>C (p.Val93Leu)
|
rs145784624
|
|
NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr)
|
|
|
NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp)
|
|
|
NM_003738.5(PTCH2):c.2842G>A (p.Gly948Ser)
|
|
|
NM_003738.5(PTCH2):c.2845_2846delinsAA (p.Ser949Asn)
|
|
|
NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu)
|
|
|
NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val)
|
|
|
NM_003738.5(PTCH2):c.287A>T (p.Glu96Val)
|
|
|
NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp)
|
|
|
NM_003738.5(PTCH2):c.2885G>A (p.Arg962His)
|
|
|
NM_003738.5(PTCH2):c.2893del (p.Leu965fs)
|
|
|
NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)
|
|
|
NM_003738.5(PTCH2):c.2925_2926insGCT (p.Thr975_Phe976insAla)
|
rs1459615294
|
|
NM_003738.5(PTCH2):c.2927T>C (p.Phe976Ser)
|
rs2148874033
|
|
NM_003738.5(PTCH2):c.2944_2945delinsGG (p.Leu982Gly)
|
rs2148874009
|
|
NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe)
|
|
|
NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp)
|
|
|
NM_003738.5(PTCH2):c.2976+1G>A
|
|
|
NM_003738.5(PTCH2):c.2977-2A>G
|
|
|
NM_003738.5(PTCH2):c.2977-5C>A
|
rs950394831
|
|
NM_003738.5(PTCH2):c.2996T>C (p.Met999Thr)
|
rs149189451
|
|
NM_003738.5(PTCH2):c.3010T>C (p.Phe1004Leu)
|
|
|
NM_003738.5(PTCH2):c.3011_3012del (p.Phe1004fs)
|
rs2148873780
|
|
NM_003738.5(PTCH2):c.3020T>C (p.Met1007Thr)
|
rs973768191
|
|
NM_003738.5(PTCH2):c.3041T>A (p.Leu1014Gln)
|
|
|
NM_003738.5(PTCH2):c.3083T>C (p.Ile1028Thr)
|
rs371907442
|
|
NM_003738.5(PTCH2):c.3088G>A (p.Val1030Ile)
|
|
|
NM_003738.5(PTCH2):c.308A>C (p.Lys103Thr)
|
|
|
NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)
|
|
|
NM_003738.5(PTCH2):c.3107T>G (p.Val1036Gly)
|
rs1653137067
|
|
NM_003738.5(PTCH2):c.3128C>T (p.Thr1043Ile)
|
|
|
NM_003738.5(PTCH2):c.313G>A (p.Gly105Arg)
|
|
|
NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln)
|
|
|
NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln)
|
rs761953363
|
|
NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg)
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rs1573639533
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NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp)
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NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu)
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NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser)
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rs1573666565
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NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG
|
rs1652986505
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NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA
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NM_003738.5(PTCH2):c.3258-7C>A
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NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser)
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rs908352571
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NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu)
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NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val)
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rs369600860
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NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro)
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rs1379984001
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NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala)
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NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs)
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rs1652984337
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NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe)
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NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
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NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup)
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rs2148871672
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NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro)
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NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser)
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NM_003738.5(PTCH2):c.3358-3C>T
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NM_003738.5(PTCH2):c.335C>T (p.Ser112Phe)
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NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu)
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NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser)
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NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro)
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rs1463079757
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NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)
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NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro)
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rs1652957871
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NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg)
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rs1652957871
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NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)
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NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala)
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NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly)
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rs1573638370
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NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg)
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NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)
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NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly)
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rs772146260
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NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile)
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NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr)
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rs576908403
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NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)
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NM_003738.5(PTCH2):c.3505del (p.Leu1169fs)
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rs763413121
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NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)
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NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg)
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NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser)
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NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs)
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rs2148871039
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NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser)
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rs1162501288
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NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)
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NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg)
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NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
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NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys)
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NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)
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NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp)
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NM_003738.5(PTCH2):c.359G>A (p.Arg120His)
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NM_003738.5(PTCH2):c.359G>T (p.Arg120Leu)
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rs200617096
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NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro)
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NM_003738.5(PTCH2):c.386C>T (p.Pro129Leu)
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rs1421459206
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NM_003738.5(PTCH2):c.38G>A (p.Ser13Asn)
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rs1654018544
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NM_003738.5(PTCH2):c.390dup (p.Ala131fs)
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rs756226400
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NM_003738.5(PTCH2):c.395T>C (p.Leu132Pro)
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NM_003738.5(PTCH2):c.400C>T (p.Leu134Phe)
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NM_003738.5(PTCH2):c.403C>A (p.His135Asn)
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rs1573653288
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NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)
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NM_003738.5(PTCH2):c.456-1G>T
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NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu)
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NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu)
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NM_003738.5(PTCH2):c.50del (p.Pro17fs)
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rs1654017720
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NM_003738.5(PTCH2):c.515T>C (p.Met172Thr)
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NM_003738.5(PTCH2):c.516G>A (p.Met172Ile)
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rs765585001
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NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu)
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rs745322399
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NM_003738.5(PTCH2):c.525+3A>G
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NM_003738.5(PTCH2):c.525+6T>C
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NM_003738.5(PTCH2):c.525+6T>G
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NM_003738.5(PTCH2):c.527T>G (p.Met176Arg)
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rs571129554
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NM_003738.5(PTCH2):c.528G>A (p.Met176Ile)
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NM_003738.5(PTCH2):c.533_548del (p.Glu178fs)
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rs1573652573
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NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr)
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NM_003738.5(PTCH2):c.563C>A (p.Pro188His)
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rs372784104
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NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg)
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NM_003738.5(PTCH2):c.565del (p.Leu189fs)
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NM_003738.5(PTCH2):c.586del (p.Ala196fs)
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NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr)
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NM_003738.5(PTCH2):c.618-6C>A
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rs924268501
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NM_003738.5(PTCH2):c.619G>T (p.Gly207Cys)
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NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)
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NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu)
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rs372348401
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NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn)
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rs2148879284
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NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer)
|
rs1653421669
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NM_003738.5(PTCH2):c.659dup (p.Leu221fs)
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NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu)
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rs1654015404
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NM_003738.5(PTCH2):c.665T>G (p.Leu222Arg)
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rs754175246
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NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly)
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rs1393241791
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NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu)
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NM_003738.5(PTCH2):c.718A>G (p.Lys240Glu)
|
rs2148879183
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NM_003738.5(PTCH2):c.72+5G>T
|
rs1417599434
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NM_003738.5(PTCH2):c.738C>G (p.Ala246=)
|
rs58079936
|
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NM_003738.5(PTCH2):c.748C>T (p.Arg250Trp)
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NM_003738.5(PTCH2):c.749G>A (p.Arg250Gln)
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NM_003738.5(PTCH2):c.773_775del (p.Leu258del)
|
rs1173101594
|
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NM_003738.5(PTCH2):c.788G>A (p.Ser263Asn)
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rs77102909
|
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NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr)
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rs77102909
|
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NM_003738.5(PTCH2):c.791C>A (p.Ala264Asp)
|
rs1653415175
|
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NM_003738.5(PTCH2):c.800A>G (p.His267Arg)
|
rs2148879096
|
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NM_003738.5(PTCH2):c.811dup (p.Gln271fs)
|
rs1653413924
|
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NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
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NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
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NM_003738.5(PTCH2):c.850C>A (p.His284Asn)
|
rs1553165436
|
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NM_003738.5(PTCH2):c.853G>C (p.Gly285Arg)
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NM_003738.5(PTCH2):c.858C>A (p.Phe286Leu)
|
rs759340277
|
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NM_003738.5(PTCH2):c.860C>A (p.Ser287Tyr)
|
rs1458470156
|
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NM_003738.5(PTCH2):c.873G>T (p.Met291Ile)
|
|
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NM_003738.5(PTCH2):c.88C>G (p.Leu30Val)
|
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NM_003738.5(PTCH2):c.905T>G (p.Met302Arg)
|
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NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys)
|
rs1653355659
|
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NM_003738.5(PTCH2):c.936-1G>A
|
|
|
NM_003738.5(PTCH2):c.939_946del (p.Glu314fs)
|
rs2148878116
|
|
NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)
|
|
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NM_003738.5(PTCH2):c.944C>T (p.Ala315Val)
|
|
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NM_003738.5(PTCH2):c.969G>A (p.Met323Ile)
|
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NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys)
|
|
|
NM_003738.5(PTCH2):c.97C>G (p.Pro33Ala)
|
rs1553166486
|
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NM_003738.5(PTCH2):c.991C>T (p.His331Tyr)
|
|
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NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
NM_016169.4(SUFU):c.1023-3C>T
|
rs550262133
|
|
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)
|
rs1589969829
|
|