NM_003738.5(PTCH2):c.2055T>C (p.Ala685=)
|
rs7525308
|
0.42892
|
NM_003738.5(PTCH2):c.265+13C>T
|
rs3795720
|
0.34867
|
NM_003738.5(PTCH2):c.1821A>G (p.Glu607=)
|
rs2295997
|
0.18953
|
NM_003738.5(PTCH2):c.3114+14C>T
|
rs11211040
|
0.17210
|
NM_003738.5(PTCH2):c.2487C>T (p.Asp829=)
|
rs2295996
|
0.14124
|
NM_003738.5(PTCH2):c.2371+17C>T
|
rs7532882
|
0.07832
|
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)
|
rs11573590
|
0.02555
|
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)
|
rs11573587
|
0.01447
|
NM_003738.5(PTCH2):c.687C>T (p.Ala229=)
|
rs11573576
|
0.01288
|
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=)
|
rs11573588
|
0.01285
|
NM_003738.5(PTCH2):c.90G>A (p.Leu30=)
|
rs45573433
|
0.00945
|
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)
|
rs139624405
|
0.00701
|
NM_003738.5(PTCH2):c.1371+8A>G
|
rs187485698
|
0.00661
|
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)
|
rs11573579
|
0.00649
|
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)
|
rs147627670
|
0.00534
|
NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=)
|
rs11573596
|
0.00468
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
NM_003738.5(PTCH2):c.2695+8T>C
|
rs145066065
|
0.00211
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=)
|
rs35851686
|
0.00152
|
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=)
|
rs11573585
|
0.00114
|
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=)
|
rs112563011
|
0.00108
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys)
|
rs149379394
|
0.00103
|
NM_003738.5(PTCH2):c.2693G>A (p.Arg898His)
|
rs143534131
|
0.00097
|
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=)
|
rs143390610
|
0.00084
|
NM_003738.5(PTCH2):c.735G>C (p.Gln245His)
|
rs138577588
|
0.00083
|
NM_003738.5(PTCH2):c.1083+3C>T
|
rs557532187
|
0.00066
|
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=)
|
rs140921885
|
0.00066
|
NM_003738.5(PTCH2):c.3184G>A (p.Val1062Met)
|
rs142187073
|
0.00066
|
NM_003738.5(PTCH2):c.321G>A (p.Glu107=)
|
rs143348731
|
0.00052
|
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys)
|
rs138324984
|
0.00051
|
NM_003738.5(PTCH2):c.2679G>A (p.Thr893=)
|
rs113617379
|
0.00046
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_003738.5(PTCH2):c.2184C>T (p.Ser728=)
|
rs146379791
|
0.00035
|
NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=)
|
rs143986029
|
0.00035
|
NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=)
|
rs372274925
|
0.00032
|
NM_003738.5(PTCH2):c.1591-10C>T
|
rs112892676
|
0.00031
|
NM_003738.5(PTCH2):c.2420G>A (p.Arg807His)
|
rs199959462
|
0.00031
|
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)
|
rs200873074
|
0.00028
|
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=)
|
rs148265788
|
0.00026
|
NM_003738.5(PTCH2):c.1507G>A (p.Val503Ile)
|
rs147284320
|
0.00025
|
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met)
|
rs11573591
|
0.00023
|
NM_003738.5(PTCH2):c.606C>T (p.Ser202=)
|
rs61757785
|
0.00023
|
NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys)
|
rs199998309
|
0.00021
|
NM_003738.5(PTCH2):c.2955C>T (p.Asn985=)
|
rs188437092
|
0.00021
|
NM_003738.5(PTCH2):c.14C>T (p.Pro5Leu)
|
rs1252822973
|
0.00020
|
NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg)
|
rs554684439
|
0.00018
|
NM_003738.5(PTCH2):c.526-16G>A
|
rs367706281
|
0.00018
|
NM_003738.5(PTCH2):c.1718C>T (p.Ser573Phe)
|
rs561039899
|
0.00017
|
NM_003738.5(PTCH2):c.2432G>A (p.Arg811His)
|
rs112613379
|
0.00016
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
NM_003738.5(PTCH2):c.2901C>T (p.Ala967=)
|
rs371861016
|
0.00016
|
NM_003738.5(PTCH2):c.2904C>T (p.Val968=)
|
rs138668059
|
0.00016
|
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val)
|
rs202184038
|
0.00016
|
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr)
|
rs144561012
|
0.00014
|
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly)
|
rs373859654
|
0.00013
|
NM_003738.5(PTCH2):c.1307C>T (p.Ala436Val)
|
rs753185169
|
0.00013
|
NM_003738.5(PTCH2):c.1758C>T (p.Asp586=)
|
rs368278021
|
0.00013
|
NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=)
|
rs201010330
|
0.00013
|
NM_003738.5(PTCH2):c.3257+3del
|
rs758457727
|
0.00013
|
NM_003738.5(PTCH2):c.1367C>A (p.Thr456Asn)
|
rs546170078
|
0.00012
|
NM_003738.5(PTCH2):c.1533C>T (p.Ala511=)
|
rs76854674
|
0.00012
|
NM_003738.5(PTCH2):c.2155C>T (p.Arg719Trp)
|
rs200355030
|
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_003738.5(PTCH2):c.3114+18G>A
|
rs200966764
|
0.00011
|
NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg)
|
rs55651071
|
0.00011
|
NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp)
|
rs143737414
|
0.00010
|
NM_003738.5(PTCH2):c.1284C>T (p.Ala428=)
|
rs200293188
|
0.00010
|
NM_003738.5(PTCH2):c.2262C>T (p.Arg754=)
|
rs368434333
|
0.00010
|
NM_003738.5(PTCH2):c.627G>A (p.Pro209=)
|
rs373848645
|
0.00010
|
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val)
|
rs766965501
|
0.00009
|
NM_003738.5(PTCH2):c.2196G>A (p.Arg732=)
|
rs369083877
|
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_003738.5(PTCH2):c.1563C>T (p.Ile521=)
|
rs141511043
|
0.00008
|
NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr)
|
rs139590197
|
0.00008
|
NM_003738.5(PTCH2):c.1371+5G>A
|
rs532682199
|
0.00007
|
NM_003738.5(PTCH2):c.2059-4G>A
|
rs547468737
|
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_003738.5(PTCH2):c.1016A>G (p.His339Arg)
|
rs561823980
|
0.00006
|
NM_003738.5(PTCH2):c.1110C>T (p.Asn370=)
|
rs575126296
|
0.00006
|
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr)
|
rs765975927
|
0.00006
|
NM_003738.5(PTCH2):c.1591-9G>A
|
rs377454394
|
0.00006
|
NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn)
|
rs528004785
|
0.00006
|
NM_003738.5(PTCH2):c.1881T>C (p.Pro627=)
|
rs138458854
|
0.00006
|
NM_003738.5(PTCH2):c.2059-5C>T
|
rs199815682
|
0.00006
|
NM_003738.5(PTCH2):c.2064C>T (p.Ile688=)
|
rs755030599
|
0.00006
|
NM_003738.5(PTCH2):c.2172T>C (p.His724=)
|
rs372907480
|
0.00006
|
NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr)
|
rs529700882
|
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.2583C>T (p.Thr861=)
|
rs764888111
|
0.00006
|
NM_003738.5(PTCH2):c.2823G>C (p.Gly941=)
|
rs779998161
|
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.132C>G (p.Leu44=)
|
rs778649189
|
0.00005
|
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.190T>C (p.Leu64=)
|
rs199655603
|
0.00005
|
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys)
|
rs146570996
|
0.00005
|
NM_003738.5(PTCH2):c.2472C>T (p.Leu824=)
|
rs377186488
|
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_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.1272C>T (p.Ser424=)
|
rs56016752
|
0.00004
|
NM_003738.5(PTCH2):c.1372-19C>T
|
rs372260495
|
0.00004
|
NM_003738.5(PTCH2):c.1395A>G (p.Gly465=)
|
rs375606003
|
0.00004
|
NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val)
|
rs139931596
|
0.00004
|
NM_003738.5(PTCH2):c.1554C>T (p.Leu518=)
|
rs775872062
|
0.00004
|
NM_003738.5(PTCH2):c.1591-12T>C
|
rs757224543
|
0.00004
|
NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr)
|
rs61751010
|
0.00004
|
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg)
|
rs375844056
|
0.00004
|
NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn)
|
rs201345708
|
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.2142G>A (p.Thr714=)
|
rs200329309
|
0.00004
|
NM_003738.5(PTCH2):c.2372-4C>T
|
rs192320525
|
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.3114+7A>T
|
rs377379786
|
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_003738.5(PTCH2):c.455+13G>A
|
rs369547068
|
0.00004
|
NM_003738.5(PTCH2):c.603C>G (p.Gly201=)
|
rs201603163
|
0.00004
|
NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln)
|
rs11573578
|
0.00003
|
NM_003738.5(PTCH2):c.1054C>T (p.Leu352=)
|
rs200855030
|
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.162T>C (p.His54=)
|
rs375847993
|
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.2097G>C (p.Leu699=)
|
rs779189611
|
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.2640C>T (p.Pro880=)
|
rs560873168
|
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.2877C>G (p.Gly959=)
|
rs567163200
|
0.00003
|
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln)
|
rs369745249
|
0.00003
|
NM_003738.5(PTCH2):c.2931C>T (p.Leu977=)
|
rs145617280
|
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.3471T>C (p.Thr1157=)
|
rs1190099495
|
0.00003
|
NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=)
|
rs750066989
|
0.00003
|
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile)
|
rs561781541
|
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_003738.5(PTCH2):c.945C>T (p.Ala315=)
|
rs201325645
|
0.00003
|
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.1215+10G>A
|
rs765764028
|
0.00002
|
NM_003738.5(PTCH2):c.1215+18C>T
|
rs375884824
|
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.1380C>T (p.Pro460=)
|
rs752485443
|
0.00002
|
NM_003738.5(PTCH2):c.1458T>C (p.Pro486=)
|
rs753309310
|
0.00002
|
NM_003738.5(PTCH2):c.1476C>A (p.Gly492=)
|
rs569864866
|
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.2070G>C (p.Leu690=)
|
rs1225161469
|
0.00002
|
NM_003738.5(PTCH2):c.2211C>T (p.Tyr737=)
|
rs543080218
|
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.2695+20C>T
|
rs745409083
|
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.2829C>T (p.His943=)
|
rs1012780887
|
0.00002
|
NM_003738.5(PTCH2):c.285G>A (p.Gln95=)
|
rs765572583
|
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+14G>A
|
rs772682205
|
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.360C>T (p.Arg120=)
|
rs753753033
|
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.567C>T (p.Leu189=)
|
rs781010476
|
0.00002
|
NM_003738.5(PTCH2):c.618C>A (p.Pro206=)
|
rs769410634
|
0.00002
|
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu)
|
rs1038343665
|
0.00002
|
NM_003738.5(PTCH2):c.738C>T (p.Ala246=)
|
rs58079936
|
0.00002
|
NM_003738.5(PTCH2):c.741C>T (p.Tyr247=)
|
rs771872936
|
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_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.1161G>A (p.Leu387=)
|
rs759092490
|
0.00001
|
NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val)
|
rs566147210
|
0.00001
|
NM_003738.5(PTCH2):c.1216-10C>G
|
rs369940240
|
0.00001
|
NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met)
|
rs768659000
|
0.00001
|
NM_003738.5(PTCH2):c.1221C>A (p.Ala407=)
|
rs530613777
|
0.00001
|
NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val)
|
rs936828240
|
0.00001
|
NM_003738.5(PTCH2):c.1311G>A (p.Val437=)
|
rs749955039
|
0.00001
|
NM_003738.5(PTCH2):c.1341C>T (p.Leu447=)
|
rs776284730
|
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.1372-15C>T
|
rs763685949
|
0.00001
|
NM_003738.5(PTCH2):c.1372-9C>T
|
rs1003390877
|
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.1431C>T (p.Ala477=)
|
rs182234912
|
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.1493C>T (p.Thr498Met)
|
rs755775675
|
0.00001
|
NM_003738.5(PTCH2):c.1494G>A (p.Thr498=)
|
rs752335873
|
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.1587A>C (p.Leu529=)
|
rs779782928
|
0.00001
|
NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter)
|
rs1267419292
|
0.00001
|
NM_003738.5(PTCH2):c.1611C>T (p.Cys537=)
|
rs372959991
|
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.1709+19C>T
|
rs1265027304
|
0.00001
|
NM_003738.5(PTCH2):c.1716C>T (p.Cys572=)
|
rs1313592725
|
0.00001
|
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser)
|
rs779477101
|
0.00001
|
NM_003738.5(PTCH2):c.1760G>A (p.Gly587Glu)
|
rs772982125
|
0.00001
|
NM_003738.5(PTCH2):c.1770A>C (p.Pro590=)
|
rs1279014385
|
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.2035T>C (p.Leu679=)
|
rs569892194
|
0.00001
|
NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe)
|
rs765469465
|
0.00001
|
NM_003738.5(PTCH2):c.2106C>T (p.Tyr702=)
|
rs146389042
|
0.00001
|
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln)
|
rs121434397
|
0.00001
|
NM_003738.5(PTCH2):c.2199C>T (p.Tyr733=)
|
rs764374316
|
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.2247C>T (p.Tyr749=)
|
rs779837932
|
0.00001
|
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys)
|
rs779024571
|
0.00001
|
NM_003738.5(PTCH2):c.2304G>A (p.Ala768=)
|
rs756917724
|
0.00001
|
NM_003738.5(PTCH2):c.2319G>A (p.Pro773=)
|
rs1346751141
|
0.00001
|
NM_003738.5(PTCH2):c.231T>C (p.Ile77=)
|
rs770754446
|
0.00001
|
NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys)
|
rs756422449
|
0.00001
|
NM_003738.5(PTCH2):c.2371+18G>A
|
rs370584384
|
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.2562G>A (p.Glu854=)
|
rs1355382148
|
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.2670C>T (p.Tyr890=)
|
rs151110219
|
0.00001
|
NM_003738.5(PTCH2):c.2697C>A (p.Ile899=)
|
rs777596264
|
0.00001
|
NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val)
|
rs776549275
|
0.00001
|
NM_003738.5(PTCH2):c.2811C>T (p.Ala937=)
|
rs375965470
|
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.2940T>C (p.Ala980=)
|
rs374872274
|
0.00001
|
NM_003738.5(PTCH2):c.2973C>T (p.Leu991=)
|
rs1401932849
|
0.00001
|
NM_003738.5(PTCH2):c.2991G>A (p.Ala997=)
|
rs756770955
|
0.00001
|
NM_003738.5(PTCH2):c.3054C>T (p.Pro1018=)
|
rs773222322
|
0.00001
|
NM_003738.5(PTCH2):c.3087C>T (p.Gly1029=)
|
rs753377256
|
0.00001
|
NM_003738.5(PTCH2):c.3114+8C>T
|
rs765369976
|
0.00001
|
NM_003738.5(PTCH2):c.312G>T (p.Leu104=)
|
rs746185871
|
0.00001
|
NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val)
|
rs150218755
|
0.00001
|
NM_003738.5(PTCH2):c.3257+13C>T
|
rs201767824
|
0.00001
|
NM_003738.5(PTCH2):c.3258-19C>A
|
rs745648260
|
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.3345C>T (p.Gly1115=)
|
rs552908012
|
0.00001
|
NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=)
|
rs576830052
|
0.00001
|
NM_003738.5(PTCH2):c.3357+14C>T
|
rs765650749
|
0.00001
|
NM_003738.5(PTCH2):c.3357+8C>T
|
rs750855839
|
0.00001
|
NM_003738.5(PTCH2):c.3358-4A>T
|
rs750625056
|
0.00001
|
NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=)
|
rs762625084
|
0.00001
|
NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=)
|
rs747942130
|
0.00001
|
NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=)
|
rs917619041
|
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.3606T>C (p.Thr1202=)
|
rs139492585
|
0.00001
|
NM_003738.5(PTCH2):c.372G>A (p.Glu124=)
|
rs1462647763
|
0.00001
|
NM_003738.5(PTCH2):c.453G>T (p.Gly151=)
|
rs757012124
|
0.00001
|
NM_003738.5(PTCH2):c.455+8T>C
|
rs753607924
|
0.00001
|
NM_003738.5(PTCH2):c.456-9C>T
|
rs974138745
|
0.00001
|
NM_003738.5(PTCH2):c.48C>T (p.Pro16=)
|
rs1241582640
|
0.00001
|
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp)
|
rs777212373
|
0.00001
|
NM_003738.5(PTCH2):c.525+19A>C
|
rs770589703
|
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.546G>A (p.Pro182=)
|
rs547735253
|
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.831C>T (p.His277=)
|
rs909568880
|
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.987C>T (p.Tyr329=)
|
rs1338577427
|
0.00001
|
NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp)
|
rs779863570
|
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
|
|
|
NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_003738.5(PTCH2):c.1014A>G (p.Thr338=)
|
|
|
NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro)
|
|
|
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
|
|
|
NM_003738.5(PTCH2):c.1041G>A (p.Gln347=)
|
rs1557646065
|
|
NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser)
|
|
|
NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg)
|
|
|
NM_003738.5(PTCH2):c.1068G>A (p.Gln356=)
|
|
|
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.1080G>A (p.Val360=)
|
rs11573579
|
|
NM_003738.5(PTCH2):c.1083+13A>G
|
|
|
NM_003738.5(PTCH2):c.1083+5G>A
|
rs1653336998
|
|
NM_003738.5(PTCH2):c.1084-14C>T
|
|
|
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.1167G>A (p.Ala389=)
|
|
|
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.1188C>A (p.Ala396=)
|
rs755498723
|
|
NM_003738.5(PTCH2):c.1188C>G (p.Ala396=)
|
rs755498723
|
|
NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)
|
|
|
NM_003738.5(PTCH2):c.1189del (p.Arg397fs)
|
rs778199787
|
|
NM_003738.5(PTCH2):c.1191T>A (p.Arg397=)
|
|
|
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.1216-15C>T
|
|
|
NM_003738.5(PTCH2):c.1216-1G>C
|
rs781065537
|
|
NM_003738.5(PTCH2):c.1216-5C>G
|
|
|
NM_003738.5(PTCH2):c.1216-5C>T
|
rs375527740
|
|
NM_003738.5(PTCH2):c.1216-5dup
|
rs1557645739
|
|
NM_003738.5(PTCH2):c.1216-7C>T
|
|
|
NM_003738.5(PTCH2):c.1218G>A (p.Leu406=)
|
rs2148877355
|
|
NM_003738.5(PTCH2):c.1233G>A (p.Val411=)
|
rs1653317387
|
|
NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter)
|
rs1573648782
|
|
NM_003738.5(PTCH2):c.1254C>T (p.Cys418=)
|
|
|
NM_003738.5(PTCH2):c.126C>T (p.Gly42=)
|
rs771823715
|
|
NM_003738.5(PTCH2):c.1275G>T (p.Val425=)
|
|
|
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.1308G>A (p.Ala436=)
|
|
|
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.1335C>A (p.Ala445=)
|
|
|
NM_003738.5(PTCH2):c.1341C>A (p.Leu447=)
|
|
|
NM_003738.5(PTCH2):c.1371+13T>G
|
|
|
NM_003738.5(PTCH2):c.1371+19del
|
|
|
NM_003738.5(PTCH2):c.1372-18G>A
|
|
|
NM_003738.5(PTCH2):c.1372-1G>T
|
|
|
NM_003738.5(PTCH2):c.1379C>A (p.Pro460His)
|
|
|
NM_003738.5(PTCH2):c.1398C>T (p.Ile466=)
|
|
|
NM_003738.5(PTCH2):c.1401C>T (p.Gly467=)
|
|
|
NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)
|
|
|
NM_003738.5(PTCH2):c.1410C>T (p.Asp470=)
|
|
|
NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)
|
|
|
NM_003738.5(PTCH2):c.1417del (p.Leu473fs)
|
rs1653297701
|
|
NM_003738.5(PTCH2):c.1422G>A (p.Leu474=)
|
|
|
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.1464+10T>C
|
|
|
NM_003738.5(PTCH2):c.1464+10T>G
|
|
|
NM_003738.5(PTCH2):c.1464+14C>T
|
|
|
NM_003738.5(PTCH2):c.1464+16C>T
|
|
|
NM_003738.5(PTCH2):c.1464+19G>C
|
|
|
NM_003738.5(PTCH2):c.1464+8_1464+17del
|
rs935055233
|
|
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.1477G>A (p.Glu493Lys)
|
rs11573581
|
|
NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp)
|
|
|
NM_003738.5(PTCH2):c.1506C>G (p.Val502=)
|
rs11573582
|
|
NM_003738.5(PTCH2):c.1506C>T (p.Val502=)
|
rs11573582
|
|
NM_003738.5(PTCH2):c.1512C>G (p.Leu504=)
|
|
|
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.1527C>T (p.Asn509=)
|
|
|
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.1566T>C (p.Pro522=)
|
|
|
NM_003738.5(PTCH2):c.1568dup (p.Leu524fs)
|
|
|
NM_003738.5(PTCH2):c.1569G>T (p.Ala523=)
|
rs143390610
|
|
NM_003738.5(PTCH2):c.1590+10C>T
|
rs1277004089
|
|
NM_003738.5(PTCH2):c.1590+11T>C
|
|
|
NM_003738.5(PTCH2):c.1590+11T>G
|
|
|
NM_003738.5(PTCH2):c.1590+17G>A
|
rs753968565
|
|
NM_003738.5(PTCH2):c.1590+8C>T
|
|
|
NM_003738.5(PTCH2):c.1591-15C>T
|
|
|
NM_003738.5(PTCH2):c.1591-5C>A
|
|
|
NM_003738.5(PTCH2):c.1591-5C>G
|
|
|
NM_003738.5(PTCH2):c.1591-6C>A
|
|
|
NM_003738.5(PTCH2):c.1591-8T>A
|
|
|
NM_003738.5(PTCH2):c.1593G>T (p.Ala531=)
|
|
|
NM_003738.5(PTCH2):c.1614C>A (p.Thr538=)
|
rs1478954517
|
|
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.1709+10G>A
|
|
|
NM_003738.5(PTCH2):c.1709+11C>T
|
|
|
NM_003738.5(PTCH2):c.1709+12G>A
|
rs369351238
|
|
NM_003738.5(PTCH2):c.1709+12G>C
|
|
|
NM_003738.5(PTCH2):c.1710-15C>G
|
|
|
NM_003738.5(PTCH2):c.1710-16T>A
|
|
|
NM_003738.5(PTCH2):c.1713C>G (p.Pro571=)
|
rs1573646751
|
|
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.1761G>A (p.Gly587=)
|
|
|
NM_003738.5(PTCH2):c.1761G>T (p.Gly587=)
|
|
|
NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile)
|
|
|
NM_003738.5(PTCH2):c.1785C>T (p.His595=)
|
rs905892751
|
|
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.1839G>A (p.Val613=)
|
rs2148875942
|
|
NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe)
|
rs1653244164
|
|
NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)
|
|
|
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)
|
rs11573586
|
|
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.1950G>A (p.Glu650=)
|
|
|
NM_003738.5(PTCH2):c.195C>T (p.Ala65=)
|
|
|
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.2034G>A (p.Pro678=)
|
rs767584655
|
|
NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu)
|
|
|
NM_003738.5(PTCH2):c.204C>T (p.Ala68=)
|
|
|
NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu)
|
|
|
NM_003738.5(PTCH2):c.2058+11G>A
|
rs1268729354
|
|
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.2166G>A (p.Lys722=)
|
rs1229094126
|
|
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.21C>G (p.Leu7=)
|
|
|
NM_003738.5(PTCH2):c.2206C>T (p.Leu736=)
|
|
|
NM_003738.5(PTCH2):c.2208G>A (p.Leu736=)
|
|
|
NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys)
|
|
|
NM_003738.5(PTCH2):c.2214G>A (p.Glu738=)
|
|
|
NM_003738.5(PTCH2):c.2217G>A (p.Val739=)
|
|
|
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.2371+19G>A
|
|
|
NM_003738.5(PTCH2):c.2372-14C>T
|
rs1243405696
|
|
NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu)
|
rs1653198432
|
|
NM_003738.5(PTCH2):c.2376C>T (p.Ile792=)
|
|
|
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.2417C>A (p.Thr806Asn)
|
rs139683072
|
|
NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu)
|
|
|
NM_003738.5(PTCH2):c.2427G>A (p.Ser809=)
|
|
|
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)
|
rs111471526
|
|
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.2472C>A (p.Leu824=)
|
rs377186488
|
|
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.2508C>T (p.Phe836=)
|
rs1267534771
|
|
NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu)
|
|
|
NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile)
|
|
|
NM_003738.5(PTCH2):c.2514+12G>C
|
|
|
NM_003738.5(PTCH2):c.2514+14T>C
|
|
|
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.2580G>A (p.Leu860=)
|
|
|
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.2592G>A (p.Val864=)
|
rs764151806
|
|
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.2616A>C (p.Ala872=)
|
rs2148874682
|
|
NM_003738.5(PTCH2):c.2640C>A (p.Pro880=)
|
rs560873168
|
|
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.2646T>C (p.Pro882=)
|
rs2148874628
|
|
NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly)
|
|
|
NM_003738.5(PTCH2):c.266-16_266-15del
|
rs756782903
|
|
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.2673C>T (p.Asp891=)
|
rs370224493
|
|
NM_003738.5(PTCH2):c.2695+10G>A
|
|
|
NM_003738.5(PTCH2):c.2695+10G>T
|
rs1400035505
|
|
NM_003738.5(PTCH2):c.2695+11G>A
|
|
|
NM_003738.5(PTCH2):c.2695+11G>C
|
rs373843383
|
|
NM_003738.5(PTCH2):c.2695+11G>T
|
|
|
NM_003738.5(PTCH2):c.2695+8T>G
|
|
|
NM_003738.5(PTCH2):c.2695+9del
|
|
|
NM_003738.5(PTCH2):c.2696-13C>T
|
|
|
NM_003738.5(PTCH2):c.2696-9C>T
|
|
|
NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu)
|
|
|
NM_003738.5(PTCH2):c.2700G>A (p.Pro900=)
|
rs200437527
|
|
NM_003738.5(PTCH2):c.2700G>T (p.Pro900=)
|
rs200437527
|
|
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.2745T>A (p.Arg915=)
|
|
|
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.2802C>T (p.Cys934=)
|
|
|
NM_003738.5(PTCH2):c.2841C>T (p.Ser947=)
|
|
|
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.2850C>A (p.Pro950=)
|
rs1553164952
|
|
NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val)
|
|
|
NM_003738.5(PTCH2):c.2877C>A (p.Gly959=)
|
|
|
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.2901C>G (p.Ala967=)
|
rs371861016
|
|
NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)
|
|
|
NM_003738.5(PTCH2):c.2922C>T (p.Cys974=)
|
rs1195101516
|
|
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.2952C>T (p.Leu984=)
|
rs755598335
|
|
NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp)
|
|
|
NM_003738.5(PTCH2):c.2976+14G>A
|
|
|
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.3042G>C (p.Leu1014=)
|
rs371828594
|
|
NM_003738.5(PTCH2):c.3042G>T (p.Leu1014=)
|
|
|
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.3114+17C>T
|
|
|
NM_003738.5(PTCH2):c.3114+20G>A
|
|
|
NM_003738.5(PTCH2):c.3114+9G>A
|
rs181508787
|
|
NM_003738.5(PTCH2):c.3114+9G>C
|
rs181508787
|
|
NM_003738.5(PTCH2):c.3115-14C>T
|
|
|
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.3147G>T (p.Leu1049=)
|
|
|
NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln)
|
rs761953363
|
|
NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=)
|
|
|
NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg)
|
rs1573639533
|
|
NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp)
|
|
|
NM_003738.5(PTCH2):c.3174A>G (p.Thr1058=)
|
|
|
NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser)
|
rs1573666565
|
|
NM_003738.5(PTCH2):c.3246C>T (p.Asp1082=)
|
|
|
NM_003738.5(PTCH2):c.3257+15G>A
|
|
|
NM_003738.5(PTCH2):c.3258-16C>G
|
rs778795322
|
|
NM_003738.5(PTCH2):c.3258-16del
|
|
|
NM_003738.5(PTCH2):c.3258-17C>G
|
|
|
NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG
|
rs1652986505
|
|
NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA
|
|
|
NM_003738.5(PTCH2):c.3258-7C>A
|
|
|
NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=)
|
rs752886480
|
|
NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu)
|
|
|
NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val)
|
rs369600860
|
|
NM_003738.5(PTCH2):c.3273G>A (p.Ala1091=)
|
|
|
NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro)
|
rs1379984001
|
|
NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala)
|
|
|
NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs)
|
rs1652984337
|
|
NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=)
|
rs770373024
|
|
NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)
|
|
|
NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe)
|
|
|
NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=)
|
rs771498770
|
|
NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
|
|
|
NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup)
|
rs2148871672
|
|
NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro)
|
|
|
NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=)
|
|
|
NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser)
|
|
|
NM_003738.5(PTCH2):c.3357+15G>A
|
rs377239356
|
|
NM_003738.5(PTCH2):c.3357+15G>C
|
|
|
NM_003738.5(PTCH2):c.3357+16G>A
|
rs1652977886
|
|
NM_003738.5(PTCH2):c.3358-11_3358-9dup
|
rs1240860649
|
|
NM_003738.5(PTCH2):c.3358-14G>T
|
rs2148871348
|
|
NM_003738.5(PTCH2):c.3358-3C>T
|
|
|
NM_003738.5(PTCH2):c.335C>T (p.Ser112Phe)
|
|
|
NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu)
|
|
|
NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser)
|
|
|
NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro)
|
rs1463079757
|
|
NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)
|
|
|
NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro)
|
rs1652957871
|
|
NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg)
|
rs1652957871
|
|
NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)
|
|
|
NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala)
|
|
|
NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly)
|
rs1573638370
|
|
NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)
|
|
|
NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=)
|
rs1573638322
|
|
NM_003738.5(PTCH2):c.345G>A (p.Leu115=)
|
|
|
NM_003738.5(PTCH2):c.3468G>A (p.Val1156=)
|
|
|
NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile)
|
|
|
NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=)
|
|
|
NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr)
|
rs576908403
|
|
NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=)
|
rs372865581
|
|
NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=)
|
rs372865581
|
|
NM_003738.5(PTCH2):c.3505del (p.Leu1169fs)
|
rs763413121
|
|
NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)
|
|
|
NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg)
|
|
|
NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser)
|
|
|
NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs)
|
rs2148871039
|
|
NM_003738.5(PTCH2):c.354C>A (p.Thr118=)
|
|
|
NM_003738.5(PTCH2):c.354C>G (p.Thr118=)
|
rs758146648
|
|
NM_003738.5(PTCH2):c.354C>T (p.Thr118=)
|
|
|
NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser)
|
rs1162501288
|
|
NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)
|
|
|
NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=)
|
rs1652948807
|
|
NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg)
|
|
|
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
|
|
|
NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys)
|
|
|
NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)
|
|
|
NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp)
|
|
|
NM_003738.5(PTCH2):c.359G>A (p.Arg120His)
|
|
|
NM_003738.5(PTCH2):c.359G>T (p.Arg120Leu)
|
rs200617096
|
|
NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro)
|
|
|
NM_003738.5(PTCH2):c.375C>T (p.Asn125=)
|
|
|
NM_003738.5(PTCH2):c.386C>T (p.Pro129Leu)
|
rs1421459206
|
|
NM_003738.5(PTCH2):c.387C>G (p.Pro129=)
|
|
|
NM_003738.5(PTCH2):c.38G>A (p.Ser13Asn)
|
rs1654018544
|
|
NM_003738.5(PTCH2):c.390dup (p.Ala131fs)
|
rs756226400
|
|
NM_003738.5(PTCH2):c.395T>C (p.Leu132Pro)
|
|
|
NM_003738.5(PTCH2):c.400C>T (p.Leu134Phe)
|
|
|
NM_003738.5(PTCH2):c.403C>A (p.His135Asn)
|
rs1573653288
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NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)
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|
|
NM_003738.5(PTCH2):c.450T>C (p.Tyr150=)
|
rs138866688
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NM_003738.5(PTCH2):c.455+16C>A
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|
NM_003738.5(PTCH2):c.455+16C>T
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NM_003738.5(PTCH2):c.456-18T>C
|
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|
NM_003738.5(PTCH2):c.456-1G>T
|
|
|
NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu)
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NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu)
|
|
|
NM_003738.5(PTCH2):c.50del (p.Pro17fs)
|
rs1654017720
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NM_003738.5(PTCH2):c.516G>A (p.Met172Ile)
|
rs765585001
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NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu)
|
rs745322399
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NM_003738.5(PTCH2):c.525+11T>C
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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.526-16G>C
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NM_003738.5(PTCH2):c.526-17C>T
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NM_003738.5(PTCH2):c.526-8C>T
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NM_003738.5(PTCH2):c.527T>G (p.Met176Arg)
|
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)
|
rs1573652573
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NM_003738.5(PTCH2):c.549C>T (p.Cys183=)
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NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr)
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NM_003738.5(PTCH2):c.561C>T (p.Thr187=)
|
rs1302639760
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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.564C>G (p.Pro188=)
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rs1328109024
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NM_003738.5(PTCH2):c.564C>T (p.Pro188=)
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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
|
rs924268501
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NM_003738.5(PTCH2):c.618-6C>T
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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.621C>T (p.Gly207=)
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NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu)
|
rs372348401
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NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn)
|
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)
|
rs754175246
|
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NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly)
|
rs1393241791
|
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NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu)
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|
|
NM_003738.5(PTCH2):c.72+14G>A
|
rs202169933
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NM_003738.5(PTCH2):c.72+5G>T
|
rs1417599434
|
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NM_003738.5(PTCH2):c.72+8G>A
|
rs1654014801
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NM_003738.5(PTCH2):c.73-10T>C
|
rs2148886533
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NM_003738.5(PTCH2):c.73-19C>G
|
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NM_003738.5(PTCH2):c.732C>T (p.Gly244=)
|
|
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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.777C>T (p.His259=)
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|
|
NM_003738.5(PTCH2):c.783A>G (p.Pro261=)
|
rs1553165531
|
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NM_003738.5(PTCH2):c.788G>A (p.Ser263Asn)
|
rs77102909
|
|
NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr)
|
rs77102909
|
|
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.801T>C (p.His267=)
|
rs2148879093
|
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NM_003738.5(PTCH2):c.811dup (p.Gln271fs)
|
rs1653413924
|
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NM_003738.5(PTCH2):c.813+10A>C
|
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|
NM_003738.5(PTCH2):c.813+17del
|
|
|
NM_003738.5(PTCH2):c.814-18C>T
|
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|
NM_003738.5(PTCH2):c.814-4C>A
|
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NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
|
|
|
NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
|
|
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NM_003738.5(PTCH2):c.843G>A (p.Gly281=)
|
|
|
NM_003738.5(PTCH2):c.850C>A (p.His284Asn)
|
rs1553165436
|
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NM_003738.5(PTCH2):c.853G>C (p.Gly285Arg)
|
|
|
NM_003738.5(PTCH2):c.858C>A (p.Phe286Leu)
|
rs759340277
|
|
NM_003738.5(PTCH2):c.860C>A (p.Ser287Tyr)
|
rs1458470156
|
|
NM_003738.5(PTCH2):c.873G>T (p.Met291Ile)
|
|
|
NM_003738.5(PTCH2):c.88C>G (p.Leu30Val)
|
|
|
NM_003738.5(PTCH2):c.891G>A (p.Leu297=)
|
rs2148878347
|
|
NM_003738.5(PTCH2):c.905T>G (p.Met302Arg)
|
|
|
NM_003738.5(PTCH2):c.909C>T (p.Ala303=)
|
rs1653356113
|
|
NM_003738.5(PTCH2):c.933G>C (p.Leu311=)
|
rs966857361
|
|
NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys)
|
rs1653355659
|
|
NM_003738.5(PTCH2):c.936-10C>T
|
|
|
NM_003738.5(PTCH2):c.936-12C>T
|
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|
NM_003738.5(PTCH2):c.936-17T>C
|
|
|
NM_003738.5(PTCH2):c.936-18C>T
|
|
|
NM_003738.5(PTCH2):c.936-1G>A
|
|
|
NM_003738.5(PTCH2):c.936-4C>T
|
rs1553165423
|
|
NM_003738.5(PTCH2):c.939_946del (p.Glu314fs)
|
rs2148878116
|
|
NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)
|
|
|
NM_003738.5(PTCH2):c.944C>T (p.Ala315Val)
|
|
|
NM_003738.5(PTCH2):c.957C>T (p.Thr319=)
|
|
|
NM_003738.5(PTCH2):c.969G>A (p.Met323Ile)
|
|
|
NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys)
|
|
|
NM_003738.5(PTCH2):c.97C>G (p.Pro33Ala)
|
rs1553166486
|
|
NM_003738.5(PTCH2):c.991C>T (p.His331Tyr)
|
|
|