ClinVar Miner

List of variants in gene PTCH2 studied for Gorlin syndrome

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Gene type:
ClinVar version:
Total variants: 866
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) rs7525308 0.42892
NM_003738.5(PTCH2):c.1590+22A>G rs2273940 0.42724
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.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.1296_1300del (p.Val433fs) rs781171287 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.3431G>A (p.Gly1144Glu) rs1234546689 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.1083G>C (p.Gln361His) rs2148877935
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.1302_1305delinsACCA (p.Leu435Pro)
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+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.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.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.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.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.3258G>C (p.Arg1086Ser) rs908352571
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.3430G>A (p.Gly1144Arg)
NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)
NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) rs772146260
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>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
NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)
NM_003738.5(PTCH2):c.450T>C (p.Tyr150=) rs138866688
NM_003738.5(PTCH2):c.455+16C>A
NM_003738.5(PTCH2):c.455+16C>T
NM_003738.5(PTCH2):c.456-18T>C
NM_003738.5(PTCH2):c.456-1G>T
NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu)
NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu)
NM_003738.5(PTCH2):c.50del (p.Pro17fs) rs1654017720
NM_003738.5(PTCH2):c.515T>C (p.Met172Thr)
NM_003738.5(PTCH2):c.516G>A (p.Met172Ile) rs765585001
NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu) rs745322399
NM_003738.5(PTCH2):c.525+11T>C
NM_003738.5(PTCH2):c.525+3A>G
NM_003738.5(PTCH2):c.525+6T>C
NM_003738.5(PTCH2):c.525+6T>G
NM_003738.5(PTCH2):c.526-16G>C
NM_003738.5(PTCH2):c.526-17C>T
NM_003738.5(PTCH2):c.526-8C>T
NM_003738.5(PTCH2):c.527T>G (p.Met176Arg) rs571129554
NM_003738.5(PTCH2):c.528G>A (p.Met176Ile)
NM_003738.5(PTCH2):c.533_548del (p.Glu178fs) rs1573652573
NM_003738.5(PTCH2):c.549C>T (p.Cys183=)
NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr)
NM_003738.5(PTCH2):c.561C>T (p.Thr187=) rs1302639760
NM_003738.5(PTCH2):c.563C>A (p.Pro188His) rs372784104
NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg)
NM_003738.5(PTCH2):c.564C>G (p.Pro188=) rs1328109024
NM_003738.5(PTCH2):c.564C>T (p.Pro188=)
NM_003738.5(PTCH2):c.565del (p.Leu189fs)
NM_003738.5(PTCH2):c.586del (p.Ala196fs)
NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr)
NM_003738.5(PTCH2):c.618-6C>A rs924268501
NM_003738.5(PTCH2):c.618-6C>T rs924268501
NM_003738.5(PTCH2):c.619G>T (p.Gly207Cys)
NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)
NM_003738.5(PTCH2):c.621C>T (p.Gly207=)
NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu) rs372348401
NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn) rs2148879284
NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer) rs1653421669
NM_003738.5(PTCH2):c.659dup (p.Leu221fs)
NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu) rs1654015404
NM_003738.5(PTCH2):c.665T>G (p.Leu222Arg) rs754175246
NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly) rs1393241791
NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu)
NM_003738.5(PTCH2):c.718A>G (p.Lys240Glu) rs2148879183
NM_003738.5(PTCH2):c.72+14G>A rs202169933
NM_003738.5(PTCH2):c.72+5G>T rs1417599434
NM_003738.5(PTCH2):c.72+8G>A rs1654014801
NM_003738.5(PTCH2):c.73-10T>C rs2148886533
NM_003738.5(PTCH2):c.73-19C>G
NM_003738.5(PTCH2):c.732C>T (p.Gly244=)
NM_003738.5(PTCH2):c.738C>G (p.Ala246=) rs58079936
NM_003738.5(PTCH2):c.748C>T (p.Arg250Trp)
NM_003738.5(PTCH2):c.749G>A (p.Arg250Gln)
NM_003738.5(PTCH2):c.773_775del (p.Leu258del) rs1173101594
NM_003738.5(PTCH2):c.777C>T (p.His259=)
NM_003738.5(PTCH2):c.783A>G (p.Pro261=) rs1553165531
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
NM_003738.5(PTCH2):c.800A>G (p.His267Arg) rs2148879096
NM_003738.5(PTCH2):c.801T>C (p.His267=) rs2148879093
NM_003738.5(PTCH2):c.811dup (p.Gln271fs) rs1653413924
NM_003738.5(PTCH2):c.813+10A>C
NM_003738.5(PTCH2):c.813+17del
NM_003738.5(PTCH2):c.814-18C>T
NM_003738.5(PTCH2):c.814-4C>A
NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
NM_003738.5(PTCH2):c.843G>A (p.Gly281=)
NM_003738.5(PTCH2):c.850C>A (p.His284Asn) rs1553165436
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
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)

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