ClinVar Miner

List of variants reported as uncertain significance for Gorlin syndrome

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Minimum conflict level:
ClinVar version:
Total variants: 2043
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000264.5(PTCH1):c.*3337T>C rs551093780 0.00032
NM_000264.5(PTCH1):c.*478A>G rs937053306 0.00031
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_000264.5(PTCH1):c.*168C>A rs769353632 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met) rs11573591 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg) rs554684439 0.00018
NM_000264.5(PTCH1):c.*750G>A rs777077097 0.00017
NM_000264.5(PTCH1):c.*3272C>T rs963000528 0.00016
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr) rs149547604 0.00016
NM_003738.5(PTCH2):c.2432G>A (p.Arg811His) rs112613379 0.00016
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) rs202184038 0.00016
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr) rs144561012 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.1296+1638C>T rs368920108 0.00014
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly) rs373859654 0.00013
NM_003738.5(PTCH2):c.3257+3del rs758457727 0.00013
NM_000264.5(PTCH1):c.*859C>T rs775198573 0.00012
NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg) rs375651844 0.00011
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) rs147567317 0.00011
NM_000264.5(PTCH1):c.*2644A>C rs773680534 0.00010
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp) rs143737414 0.00010
NM_000264.5(PTCH1):c.*2795G>T rs773035324 0.00009
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val) rs766965501 0.00009
NM_003738.5(PTCH2):c.347T>C (p.Ile116Thr) rs200800966 0.00009
NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp) rs200366479 0.00009
NM_000264.5(PTCH1):c.*2737C>A rs1038475537 0.00008
NM_000264.5(PTCH1):c.*762G>C rs763571205 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr) rs139590197 0.00008
NM_000264.5(PTCH1):c.*1648A>G rs1057515713 0.00007
NM_000264.5(PTCH1):c.-78G>A rs572958276 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_003738.5(PTCH2):c.1371+5G>A rs532682199 0.00007
NM_003738.5(PTCH2):c.2678C>T (p.Thr893Met) rs199596045 0.00007
NM_003738.5(PTCH2):c.3139C>T (p.Arg1047Trp) rs758245867 0.00007
NM_003738.5(PTCH2):c.623G>A (p.Arg208His) rs768496761 0.00007
NM_003738.5(PTCH2):c.998G>A (p.Arg333Gln) rs146689795 0.00007
NM_000264.5(PTCH1):c.*623C>T rs776158552 0.00006
NM_000264.5(PTCH1):c.-122G>A rs980754274 0.00006
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp) rs139942632 0.00006
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr) rs765975927 0.00006
NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn) rs528004785 0.00006
NM_003738.5(PTCH2):c.2261G>A (p.Arg754His) rs757344433 0.00006
NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr) rs200862802 0.00006
NM_003738.5(PTCH2):c.2431C>T (p.Arg811Cys) rs144449175 0.00006
NM_003738.5(PTCH2):c.2964G>A (p.Thr988=) rs746706776 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) rs758108389 0.00006
NM_003738.5(PTCH2):c.704G>A (p.Arg235Gln) rs376337405 0.00006
NM_003738.5(PTCH2):c.865A>G (p.Lys289Glu) rs766393257 0.00006
NM_003738.5(PTCH2):c.1561A>C (p.Ile521Leu) rs1159508966 0.00005
NM_003738.5(PTCH2):c.1768C>A (p.Pro590Thr) rs776592479 0.00005
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys) rs146570996 0.00005
NM_003738.5(PTCH2):c.2743C>T (p.Arg915Cys) rs758477982 0.00005
NM_003738.5(PTCH2):c.608C>T (p.Ala203Val) rs968580747 0.00005
NM_016169.4(SUFU):c.183-4G>A rs766044613 0.00005
NM_000264.5(PTCH1):c.*1153C>G rs770443972 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn) rs745451899 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu) rs767973616 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu) rs1315638429 0.00004
NM_003738.5(PTCH2):c.1223A>G (p.Tyr408Cys) rs140845138 0.00004
NM_003738.5(PTCH2):c.1267G>A (p.Gly423Ser) rs371644875 0.00004
NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val) rs139931596 0.00004
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) rs375844056 0.00004
NM_003738.5(PTCH2):c.184G>A (p.Gly62Arg) rs751954698 0.00004
NM_003738.5(PTCH2):c.2065G>A (p.Val689Met) rs748318921 0.00004
NM_003738.5(PTCH2):c.2419C>T (p.Arg807Cys) rs376171572 0.00004
NM_003738.5(PTCH2):c.2459C>T (p.Ala820Val) rs140437473 0.00004
NM_003738.5(PTCH2):c.2884C>T (p.Arg962Cys) rs746328425 0.00004
NM_003738.5(PTCH2):c.2976+2T>C rs760436790 0.00004
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) rs138220875 0.00004
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) rs752886480 0.00004
NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu) rs148142832 0.00004
NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg) rs369587910 0.00004
NM_003738.5(PTCH2):c.446T>A (p.Leu149His) rs111283762 0.00004
NM_000264.5(PTCH1):c.*2180C>T rs1357696436 0.00003
NM_000264.5(PTCH1):c.*3111G>A rs1395471972 0.00003
NM_000264.5(PTCH1):c.*556G>A rs964764151 0.00003
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp) rs138729094 0.00003
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr) rs753960393 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2792C>G (p.Pro931Arg) rs772928587 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.4144C>T (p.His1382Tyr) rs377484697 0.00003
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln) rs748812637 0.00003
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg) rs1060502276 0.00003
NM_000264.5(PTCH1):c.4312G>A (p.Glu1438Lys) rs768254901 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 0.00003
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser) rs1057515721 0.00003
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser) rs778460384 0.00003
NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln) rs11573578 0.00003
NM_003738.5(PTCH2):c.1083+4G>A rs370819522 0.00003
NM_003738.5(PTCH2):c.1465-3C>A rs749158562 0.00003
NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val) rs200216295 0.00003
NM_003738.5(PTCH2):c.1663C>T (p.Arg555Trp) rs369481564 0.00003
NM_003738.5(PTCH2):c.1756G>T (p.Asp586Tyr) rs751113988 0.00003
NM_003738.5(PTCH2):c.1951G>A (p.Glu651Lys) rs866056830 0.00003
NM_003738.5(PTCH2):c.221G>A (p.Arg74His) rs771760736 0.00003
NM_003738.5(PTCH2):c.229A>G (p.Ile77Val) rs774219740 0.00003
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys) rs759692145 0.00003
NM_003738.5(PTCH2):c.2776G>T (p.Ala926Ser) rs764506722 0.00003
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln) rs369745249 0.00003
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser) rs752127255 0.00003
NM_003738.5(PTCH2):c.2975T>C (p.Ile992Thr) rs776299795 0.00003
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln) rs1488300164 0.00003
NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg) rs775788908 0.00003
NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr) rs200049774 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003738.5(PTCH2):c.626C>G (p.Pro209Arg) rs372348401 0.00003
NM_003738.5(PTCH2):c.755G>A (p.Cys252Tyr) rs756377856 0.00003
NM_003738.5(PTCH2):c.832G>A (p.Glu278Lys) rs749103409 0.00003
NM_000264.5(PTCH1):c.*1167A>G rs192352160 0.00002
NM_000264.5(PTCH1):c.*1220A>G rs930382710 0.00002
NM_000264.5(PTCH1):c.*1885G>A rs892705165 0.00002
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn) rs764579762 0.00002
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr) rs779204091 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu) rs1239869539 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.388G>A (p.Val130Met) rs746339472 0.00002
NM_000264.5(PTCH1):c.3965C>G (p.Ala1322Gly) rs1054532927 0.00002
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu) rs775192032 0.00002
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val) rs772368023 0.00002
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr) rs863224654 0.00002
NM_003738.5(PTCH2):c.1039C>T (p.Gln347Ter) rs202104574 0.00002
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_003738.5(PTCH2):c.1238T>C (p.Met413Thr) rs779283615 0.00002
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln) rs764488358 0.00002
NM_003738.5(PTCH2):c.1273G>A (p.Val425Met) rs776537011 0.00002
NM_003738.5(PTCH2):c.1489C>T (p.Arg497Cys) rs200815526 0.00002
NM_003738.5(PTCH2):c.1492A>G (p.Thr498Ala) rs777213605 0.00002
NM_003738.5(PTCH2):c.1555G>A (p.Val519Ile) rs113543298 0.00002
NM_003738.5(PTCH2):c.1624G>A (p.Val542Met) rs1366049289 0.00002
NM_003738.5(PTCH2):c.1690G>A (p.Val564Met) rs35956045 0.00002
NM_003738.5(PTCH2):c.1726G>T (p.Val576Leu) rs867905557 0.00002
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr) rs199563590 0.00002
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr) rs376282577 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.2014G>A (p.Ala672Thr) rs145383991 0.00002
NM_003738.5(PTCH2):c.2033C>T (p.Pro678Leu) rs752642110 0.00002
NM_003738.5(PTCH2):c.203C>A (p.Ala68Asp) rs376362870 0.00002
NM_003738.5(PTCH2):c.2303C>T (p.Ala768Val) rs761442845 0.00002
NM_003738.5(PTCH2):c.233T>C (p.Ile78Thr) rs749275900 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn) rs745445438 0.00002
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) rs751579508 0.00002
NM_003738.5(PTCH2):c.275G>A (p.Arg92Gln) rs778736481 0.00002
NM_003738.5(PTCH2):c.277G>A (p.Val93Met) rs145784624 0.00002
NM_003738.5(PTCH2):c.286G>A (p.Glu96Lys) rs773172626 0.00002
NM_003738.5(PTCH2):c.2932G>A (p.Val978Ile) rs201618166 0.00002
NM_003738.5(PTCH2):c.3076G>A (p.Val1026Ile) rs758023126 0.00002
NM_003738.5(PTCH2):c.3148C>T (p.Arg1050Trp) rs765314961 0.00002
NM_003738.5(PTCH2):c.3257+1G>A rs760843273 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys) rs771112499 0.00002
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) rs56024410 0.00002
NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu) rs909583917 0.00002
NM_003738.5(PTCH2):c.467T>G (p.Leu156Trp) rs757373889 0.00002
NM_003738.5(PTCH2):c.526-2A>G rs761307519 0.00002
NM_003738.5(PTCH2):c.545C>T (p.Pro182Leu) rs773912063 0.00002
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu) rs1038343665 0.00002
NM_003738.5(PTCH2):c.811C>T (p.Gln271Ter) rs1179743544 0.00002
NM_003738.5(PTCH2):c.901G>A (p.Gly301Ser) rs757505677 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_000264.5(PTCH1):c.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 0.00001
NM_000264.5(PTCH1):c.*2096G>A rs1331556943 0.00001
NM_000264.5(PTCH1):c.*3080G>T rs1006981555 0.00001
NM_000264.5(PTCH1):c.*3209T>C rs757611119 0.00001
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys) rs1841406856 0.00001
NM_000264.5(PTCH1):c.1024A>C (p.Ile342Leu) rs1245184042 0.00001
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.106A>G (p.Thr36Ala) rs1843898216 0.00001
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg) rs768024586 0.00001
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile) rs1841328115 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His) rs1277111019 0.00001
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met) rs756949381 0.00001
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala) rs952195482 0.00001
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met) rs768956985 0.00001
NM_000264.5(PTCH1):c.1277C>T (p.Thr426Ile) rs755787454 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 0.00001
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala) rs864622762 0.00001
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu) rs372546614 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000264.5(PTCH1):c.1762G>A (p.Val588Ile) rs1472804824 0.00001
NM_000264.5(PTCH1):c.1829T>C (p.Ile610Thr) rs1234183663 0.00001
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly) rs1296707371 0.00001
NM_000264.5(PTCH1):c.1835G>T (p.Cys612Phe) rs777587539 0.00001
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg) rs948568790 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr) rs1035631674 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1973T>C (p.Met658Thr) rs1588575145 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala) rs1588574496 0.00001
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly) rs1402724349 0.00001
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg) rs1051496812 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser) rs997156828 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp) rs1159846014 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.2704-3T>C rs1208489068 0.00001
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val) rs1441750517 0.00001
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu) rs1587693508 0.00001
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn) rs1588544328 0.00001
NM_000264.5(PTCH1):c.28C>G (p.Pro10Ala) rs1587701162 0.00001
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu) rs760297274 0.00001
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu) rs1257244317 0.00001
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg) rs1181905241 0.00001
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser) rs780425276 0.00001
NM_000264.5(PTCH1):c.3041C>T (p.Pro1014Leu) rs1404012576 0.00001
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=) rs757268536 0.00001
NM_000264.5(PTCH1):c.3188T>C (p.Met1063Thr) rs1260702127 0.00001
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu) rs559317040 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.337G>T (p.Ala113Ser) rs1843653911 0.00001
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr) rs1838650766 0.00001
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys) rs1838317135 0.00001
NM_000264.5(PTCH1):c.3592C>T (p.Pro1198Ser) rs1280830531 0.00001
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg) rs1564008885 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp) rs374011978 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3804+6T>G rs1298248967 0.00001
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=) rs951501624 0.00001
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp) rs1838051752 0.00001
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe) rs760216958 0.00001
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) rs786204201 0.00001
NM_000264.5(PTCH1):c.3916C>A (p.Pro1306Thr) rs1169961504 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.395-8T>A rs755013836 0.00001
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp) rs1394160194 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.4114A>G (p.Thr1372Ala) rs1837997051 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000264.5(PTCH1):c.4160C>T (p.Pro1387Leu) rs552921967 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000264.5(PTCH1):c.4178C>G (p.Pro1393Arg) rs1368334005 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu) rs747923595 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.41G>A (p.Gly14Asp) rs1564091998 0.00001
NM_000264.5(PTCH1):c.4237C>T (p.His1413Tyr) rs772886108 0.00001
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr) rs556722778 0.00001
NM_000264.5(PTCH1):c.4291G>A (p.Glu1431Lys) rs766876016 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000264.5(PTCH1):c.4320G>T (p.Arg1440Ser) rs1837952286 0.00001
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn) rs770268061 0.00001
NM_000264.5(PTCH1):c.584+6G>A rs1282207631 0.00001
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr) rs1261920867 0.00001
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala) rs1588614533 0.00001
NM_000264.5(PTCH1):c.652C>G (p.Gln218Glu) rs1841591077 0.00001
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val) rs1841580631 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr) rs1588610162 0.00001
NM_000264.5(PTCH1):c.907G>C (p.Asp303His) rs1172719429 0.00001
NM_000264.5(PTCH1):c.944A>C (p.Lys315Thr) rs746517321 0.00001
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val) rs1380199153 0.00001
NM_000264.5(PTCH1):c.95G>A (p.Arg32Lys) rs746923835 0.00001
NM_003738.5(PTCH2):c.1070G>A (p.Arg357Gln) rs746520151 0.00001
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter) rs1344552083 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.110G>A (p.Arg37His) rs889058469 0.00001
NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val) rs566147210 0.00001
NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met) rs768659000 0.00001
NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val) rs936828240 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003738.5(PTCH2):c.1342G>A (p.Gly448Ser) rs764006611 0.00001
NM_003738.5(PTCH2):c.1371+4C>T rs201185084 0.00001
NM_003738.5(PTCH2):c.1387G>C (p.Ala463Pro) rs767529534 0.00001
NM_003738.5(PTCH2):c.1399G>A (p.Gly467Ser) rs774556844 0.00001
NM_003738.5(PTCH2):c.148G>A (p.Gly50Arg) rs1050285039 0.00001
NM_003738.5(PTCH2):c.1490G>A (p.Arg497His) rs747326124 0.00001
NM_003738.5(PTCH2):c.1491C>T (p.Arg497=) rs1218382325 0.00001
NM_003738.5(PTCH2):c.1540C>T (p.Leu514Phe) rs1166767159 0.00001
NM_003738.5(PTCH2):c.1574G>A (p.Arg525Gln) rs780947486 0.00001
NM_003738.5(PTCH2):c.1583C>T (p.Ser528Phe) rs746773302 0.00001
NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter) rs1267419292 0.00001
NM_003738.5(PTCH2):c.1634T>C (p.Val545Ala) rs868360367 0.00001
NM_003738.5(PTCH2):c.1664G>A (p.Arg555Gln) rs751870013 0.00001
NM_003738.5(PTCH2):c.1667G>A (p.Arg556Gln) rs538894363 0.00001
NM_003738.5(PTCH2):c.1682G>A (p.Arg561His) rs375224102 0.00001
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser) rs779477101 0.00001
NM_003738.5(PTCH2):c.1913C>G (p.Pro638Arg) rs753624626 0.00001
NM_003738.5(PTCH2):c.1991C>T (p.Ala664Val) rs1461435360 0.00001
NM_003738.5(PTCH2):c.2017C>T (p.Arg673Cys) rs151287275 0.00001
NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe) rs765469465 0.00001
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln) rs121434397 0.00001
NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys) rs772919434 0.00001
NM_003738.5(PTCH2):c.2219C>T (p.Ala740Val) rs768297911 0.00001
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys) rs779024571 0.00001
NM_003738.5(PTCH2):c.2319G>A (p.Pro773=) rs1346751141 0.00001
NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys) rs756422449 0.00001
NM_003738.5(PTCH2):c.2371+9C>T rs1261637894 0.00001
NM_003738.5(PTCH2):c.2380G>A (p.Ala794Thr) rs753274452 0.00001
NM_003738.5(PTCH2):c.2514+1G>T rs1270521718 0.00001
NM_003738.5(PTCH2):c.2519C>G (p.Thr840Ser) rs150339322 0.00001
NM_003738.5(PTCH2):c.2563C>T (p.Leu855Phe) rs770833248 0.00001
NM_003738.5(PTCH2):c.2584G>A (p.Val862Met) rs371160711 0.00001
NM_003738.5(PTCH2):c.2644C>T (p.Pro882Ser) rs746520920 0.00001
NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val) rs776549275 0.00001
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser) rs746898559 0.00001
NM_003738.5(PTCH2):c.2865A>G (p.Glu955=) rs895448868 0.00001
NM_003738.5(PTCH2):c.2923A>T (p.Thr975Ser) rs1166283414 0.00001
NM_003738.5(PTCH2):c.2933T>C (p.Val978Ala) rs756475622 0.00001
NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val) rs150218755 0.00001
NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr) rs767618405 0.00001
NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met) rs1159570918 0.00001
NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu) rs1234546689 0.00001
NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser) rs545773315 0.00001
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) rs777389212 0.00001
NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro) rs779167991 0.00001
NM_003738.5(PTCH2):c.3506del (p.Leu1169fs) rs1049941528 0.00001
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) rs900911841 0.00001
NM_003738.5(PTCH2):c.453G>T (p.Gly151=) rs757012124 0.00001
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp) rs777212373 0.00001
NM_003738.5(PTCH2):c.52G>C (p.Ala18Pro) rs1186947999 0.00001
NM_003738.5(PTCH2):c.530T>C (p.Ile177Thr) rs1383422802 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_003738.5(PTCH2):c.571del (p.Cys191fs) rs1476622319 0.00001
NM_003738.5(PTCH2):c.73A>C (p.Ile25Leu) rs766919037 0.00001
NM_003738.5(PTCH2):c.763C>G (p.Pro255Ala) rs200618779 0.00001
NM_003738.5(PTCH2):c.7C>T (p.Arg3Ter) rs1060502263 0.00001
NM_003738.5(PTCH2):c.813+4G>C rs552470325 0.00001
NM_003738.5(PTCH2):c.821A>G (p.Asn274Ser) rs753314916 0.00001
NM_003738.5(PTCH2):c.838A>G (p.Ser280Gly) rs1429367527 0.00001
NM_003738.5(PTCH2):c.935+6G>A rs370065753 0.00001
NM_003738.5(PTCH2):c.953G>A (p.Ser318Asn) rs772366646 0.00001
NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp) rs779863570 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NC_000001.10:g.(?_45288087)_(45289067_?)dup
NC_000001.10:g.(?_45288087)_(45308604_?)dup
NC_000001.10:g.(?_45290013)_(45292899_?)del
NC_000001.10:g.(?_45295206)_(45297698_?)del
NC_000001.10:g.(?_45307509)_(45308604_?)dup
NC_000001.11:g.(?_44822405)_(44823395_?)dup
NC_000001.11:g.(?_44822405)_(44832351_?)dup
NC_000009.11:g.(?_98226337)_(98248166_?)dup
NC_000009.11:g.(?_98231023)_(98232223_?)del
NC_000009.11:g.(?_98268679)_(98279100_?)dup
NC_000009.12:g.(?_95446912)_(95508361_?)dup
NM_000264.3(PTCH1):c.3168+763_4244del
NM_000264.5(PTCH1):c.*1075A>C rs1020973772
NM_000264.5(PTCH1):c.*1256C>T rs187832324
NM_000264.5(PTCH1):c.*1353T>C rs1837774312
NM_000264.5(PTCH1):c.*1413C>G rs1057515714
NM_000264.5(PTCH1):c.*1638A>G rs1039220329
NM_000264.5(PTCH1):c.*1757C>T rs1837735115
NM_000264.5(PTCH1):c.*1866TG[12] rs59205702
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*2146A>G rs538345753
NM_000264.5(PTCH1):c.*2263T>A rs1837680803
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.*2414C>G rs776036229
NM_000264.5(PTCH1):c.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.-4_-2dup rs1843916701
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln) rs1841405475
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg) rs2118391966
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
NM_000264.5(PTCH1):c.101G>A (p.Arg34Lys) rs771847879
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met) rs780256480
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu) rs1564054554
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys) rs2118390055
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala) rs1841400368
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile) rs1841400047
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe) rs1060502279
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys) rs2118388571
NM_000264.5(PTCH1):c.104G>C (p.Arg35Pro)
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=) rs1841396845
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe) rs1588608286
NM_000264.5(PTCH1):c.1067+5G>T rs372657547
NM_000264.5(PTCH1):c.1067+6C>G rs1256541464
NM_000264.5(PTCH1):c.1067+6C>T rs1256541464
NM_000264.5(PTCH1):c.106A>C (p.Thr36Pro) rs1843898216
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val) rs1841334350
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val) rs1302357924
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro) rs2118368178
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile) rs1841330687
NM_000264.5(PTCH1):c.1092C>G (p.Phe364Leu) rs2118367698
NM_000264.5(PTCH1):c.109G>A (p.Gly37Arg) rs199976372
NM_000264.5(PTCH1):c.10G>A (p.Ala4Thr)
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met) rs768024586
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) rs748780206
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu) rs1588605721
NM_000264.5(PTCH1):c.112G>A (p.Gly38Arg) rs45574039
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His) rs1554699212
NM_000264.5(PTCH1):c.1136A>G (p.Tyr379Cys) rs1841324703
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile) rs1841323482
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp) rs2118365949
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro) rs1220687550
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr) rs2118365611
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser) rs1564053157
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His) rs1588605451
NM_000264.5(PTCH1):c.116T>A (p.Leu39Gln) rs768063889
NM_000264.5(PTCH1):c.116T>C (p.Leu39Pro)
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg) rs1554699163
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu) rs202020837
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val) rs2118364801
NM_000264.5(PTCH1):c.118C>T (p.Arg40Cys) rs1843895996
NM_000264.5(PTCH1):c.119G>T (p.Arg40Leu) rs755400723
NM_000264.5(PTCH1):c.11C>G (p.Ala4Gly) rs540045689
NM_000264.5(PTCH1):c.11C>T (p.Ala4Val) rs540045689
NM_000264.5(PTCH1):c.11_12delinsGG (p.Ala4Gly) rs2118910638
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys) rs1588605278
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
NM_000264.5(PTCH1):c.1215+4A>T
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser) rs1554709496
NM_000264.5(PTCH1):c.121C>G (p.Arg41Gly)
NM_000264.5(PTCH1):c.121C>T (p.Arg41Cys) rs1554709496
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg) rs1841233191
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
NM_000264.5(PTCH1):c.122G>C (p.Arg41Pro)
NM_000264.5(PTCH1):c.122G>T (p.Arg41Leu) rs1554709493
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser) rs2118338120
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys) rs1588602943
NM_000264.5(PTCH1):c.124G>C (p.Ala42Pro) rs2118908042
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg) rs1060502270
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu) rs202136156
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe) rs1841229239
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe) rs1285775586
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser) rs1841228090
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile) rs1841228090
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly) rs1554698835
NM_000264.5(PTCH1):c.1283A>T (p.Asp428Val) rs1554698835
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr) rs377546733
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly) rs1588602719
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val) rs1416185684
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro) rs1564051512
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr) rs1841223979
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg) rs1841223979
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn) rs1564051490
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu) rs2118332463
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser) rs1841222850
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys) rs2118332232
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
NM_000264.5(PTCH1):c.1309G>A (p.Val437Ile) rs1293146883
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly) rs2118331535
NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro) rs767273237
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser) rs2118330345
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly) rs878853845
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val) rs878853845
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn) rs1588602411
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg) rs373930674
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser) rs2118329828
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp) rs2118329688
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser) rs2118329512
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys) rs2118329512
NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del) rs1554698774
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg) rs1841214843
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1347+6G>C
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000264.5(PTCH1):c.134C>T (p.Pro45Leu)
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro) rs1841168008
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg) rs2118310654
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg) rs1841166322
NM_000264.5(PTCH1):c.137A>C (p.Asp46Ala) rs1587700483
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser) rs1588600865
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
NM_000264.5(PTCH1):c.139C>G (p.Arg47Gly) rs138729094
NM_000264.5(PTCH1):c.13G>A (p.Gly5Ser) rs1843915589
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met) rs1438523462
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg) rs1564050210
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.140G>A (p.Arg47Gln) rs775408408
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu) rs775408408
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr) rs899465701
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser) rs899465701
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp) rs1841159429
NM_000264.5(PTCH1):c.142G>A (p.Asp48Asn) rs745685305
NM_000264.5(PTCH1):c.142G>C (p.Asp48His) rs745685305
NM_000264.5(PTCH1):c.142_156dup (p.Arg52_Pro53insAspTyrLeuHisArg)
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala) rs2118304226
NM_000264.5(PTCH1):c.146A>T (p.Tyr49Phe) rs774156512
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg) rs2118303660
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.147_164del (p.Leu50_Tyr55del) rs1843889325
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile) rs2118303008
NM_000264.5(PTCH1):c.148C>A (p.Leu50Met)
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr) rs1841150573
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys) rs1298115628
NM_000264.5(PTCH1):c.14G>A (p.Gly5Asp)
NM_000264.5(PTCH1):c.1503+17T>G
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp) rs1841078928
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
NM_000264.5(PTCH1):c.151C>T (p.His51Tyr) rs1843891102
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn) rs1588598595
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val) rs1564048907
NM_000264.5(PTCH1):c.153C>A (p.His51Gln)
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile) rs2118283531
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe) rs2118283054
NM_000264.5(PTCH1):c.154C>G (p.Arg52Gly) rs1587700366
NM_000264.5(PTCH1):c.154C>T (p.Arg52Trp) rs1587700366
NM_000264.5(PTCH1):c.1550T>C (p.Leu517Pro)
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr) rs1554698275
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val) rs755139183
NM_000264.5(PTCH1):c.1566C>G (p.Phe522Leu) rs2118281892
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly) rs2118281828
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala) rs2118281472
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu) rs1841074166
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser) rs1841073512
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu) rs780434261
NM_000264.5(PTCH1):c.1589G>A (p.Arg530Lys) rs1841073027
NM_000264.5(PTCH1):c.158C>A (p.Pro53His) rs372546614
NM_000264.5(PTCH1):c.158C>G (p.Pro53Arg) rs372546614
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser) rs1318015818
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys) rs1323512738
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile) rs2118261336
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg) rs1347882326
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln) rs2118260596
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp) rs1221665069
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala) rs1841014826
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile) rs1841014632
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His) rs1843889465
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr) rs1564047095
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile) rs1564047095
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys) rs1205081001
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg) rs863224649
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met) rs863224649
NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala) rs1841012358
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys) rs1060502282
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr) rs148367880
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr) rs2118253278
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser) rs1564046809
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
NM_000264.5(PTCH1):c.1682T>C (p.Met561Thr)
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile) rs1841007617
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr) rs146616780
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met) rs1564046738
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val) rs200504753
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp) rs1587701202
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr) rs753240797
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val) rs1841004985
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser) rs1588596119
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val) rs1485556285
NM_000264.5(PTCH1):c.1719C>G (p.Phe573Leu)
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe) rs1841002219
NM_000264.5(PTCH1):c.1728+3G>A
NM_000264.5(PTCH1):c.1728+3G>C rs1588596061
NM_000264.5(PTCH1):c.1728+6C>A rs761805788
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His) rs1841001917
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr) rs1554695631
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr) rs1249138008
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile) rs1840408569
NM_000264.5(PTCH1):c.173C>G (p.Ala58Gly) rs1587700281
NM_000264.5(PTCH1):c.173C>T (p.Ala58Val) rs1587700281
NM_000264.5(PTCH1):c.1741G>C (p.Val581Leu)
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr) rs1699771172
NM_000264.5(PTCH1):c.1759A>G (p.Met587Val) rs1840405779
NM_000264.5(PTCH1):c.1760T>C (p.Met587Thr) rs1588578473
NM_000264.5(PTCH1):c.1761G>T (p.Met587Ile)
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe) rs2118095021
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser) rs2118094624
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser) rs2118093961
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys) rs2118092432
NM_000264.5(PTCH1):c.1811A>G (p.Glu604Gly) rs756951491
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
NM_000264.5(PTCH1):c.1822C>G (p.Leu608Val) rs1840400624
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val) rs1588578266
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
NM_000264.5(PTCH1):c.1840T>C (p.Phe614Leu) rs1193948667
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly) rs1131690983
NM_000264.5(PTCH1):c.1847+4C>T rs2118088023
NM_000264.5(PTCH1):c.1847+5A>G rs1286074829
NM_000264.5(PTCH1):c.1847+6T>C rs2118087853
NM_000264.5(PTCH1):c.1847G>A (p.Ser616Asn)
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val) rs1843886204
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg) rs2118062260
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met) rs765258547
NM_000264.5(PTCH1):c.1865T>A (p.Val622Glu)
NM_000264.5(PTCH1):c.1871A>G (p.Gln624Arg) rs1840322792
NM_000264.5(PTCH1):c.1874T>A (p.Val625Asp) rs1175793715
NM_000264.5(PTCH1):c.187G>A (p.Glu63Lys) rs781768965
NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln) rs781768965
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser) rs1840320961
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
NM_000264.5(PTCH1):c.1895A>G (p.Asp632Gly)
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu) rs2118057608
NM_000264.5(PTCH1):c.1897A>G (p.Thr633Ala) rs1840319889
NM_000264.5(PTCH1):c.189G>C (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.18C>A (p.Asn6Lys) rs878853848
NM_000264.5(PTCH1):c.18C>G (p.Asn6Lys)
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn) rs764218645
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln) rs761015917
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala) rs200321717
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val) rs200321717
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser) rs1588575591
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
NM_000264.5(PTCH1):c.1910C>A (p.Thr637Asn)
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly) rs1840315398
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg) rs762371629
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
NM_000264.5(PTCH1):c.192G>C (p.Gln64His) rs1843885224
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr) rs1840312910
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly) rs1588575341
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys) rs2118052357
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg) rs2118052149
NM_000264.5(PTCH1):c.1942C>T (p.His648Tyr)
NM_000264.5(PTCH1):c.1943A>G (p.His648Arg)
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile) rs2118051663
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr) rs1843885007
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val) rs1554695145
NM_000264.5(PTCH1):c.1965G>T (p.Gln655His) rs2118049998
NM_000264.5(PTCH1):c.1969A>T (p.Thr657Ser) rs1564033929
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr) rs2118048874
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr) rs1025299062
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile) rs1332668908
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val) rs1564033840
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala) rs2118046932
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
NM_000264.5(PTCH1):c.2002T>A (p.Tyr668Asn) rs1564033766
NM_000264.5(PTCH1):c.2003_2004delinsTA (p.Tyr668Leu)
NM_000264.5(PTCH1):c.2007C>A (p.Asp669Glu)
NM_000264.5(PTCH1):c.2007C>G (p.Asp669Glu)
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu) rs2118046186
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr) rs1843883983
NM_000264.5(PTCH1):c.201+2_201+3dup rs2118906154
NM_000264.5(PTCH1):c.201+3G>A rs1394306522
NM_000264.5(PTCH1):c.201+3G>T rs1394306522
NM_000264.5(PTCH1):c.201+5A>G rs1843883183
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp) rs376678753
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.202-3C>T rs1353756463
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His) rs2118044840
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
NM_000264.5(PTCH1):c.2042C>G (p.Pro681Arg) rs1588574709
NM_000264.5(PTCH1):c.2042C>T (p.Pro681Leu)
NM_000264.5(PTCH1):c.2044C>G (p.Arg682Gly) rs570441437
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys) rs1373585633
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu) rs750970743
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala) rs1840294655
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile) rs1840294159
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
NM_000264.5(PTCH1):c.2083G>A (p.Asp695Asn) rs2118039182
NM_000264.5(PTCH1):c.2085C>A (p.Asp695Glu) rs1452372504
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
NM_000264.5(PTCH1):c.2086A>T (p.Thr696Ser) rs1588574496
NM_000264.5(PTCH1):c.2090T>C (p.Leu697Pro)
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser) rs547829353
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000264.5(PTCH1):c.20C>G (p.Ala7Gly) rs1564092028
NM_000264.5(PTCH1):c.20C>T (p.Ala7Val) rs1564092028
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser) rs2118037487
NM_000264.5(PTCH1):c.2107G>A (p.Glu703Lys) rs2118037130
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly) rs1182895378
NM_000264.5(PTCH1):c.2111G>A (p.Ser704Asn)
NM_000264.5(PTCH1):c.2112C>A (p.Ser704Arg)
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn) rs140497736
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys) rs1840287540
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
NM_000264.5(PTCH1):c.2134C>G (p.Leu712Val) rs587780696
NM_000264.5(PTCH1):c.2134C>T (p.Leu712Phe) rs587780696
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys) rs1554694963
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro) rs1564033174
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr) rs2118032855
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000264.5(PTCH1):c.2156G>C (p.Ser719Thr) rs1840282022
NM_000264.5(PTCH1):c.2159T>A (p.Leu720His)
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg) rs1554694943
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln) rs144501989
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His) rs963297092
NM_000264.5(PTCH1):c.2179T>A (p.Cys727Ser) rs779167673
NM_000264.5(PTCH1):c.2179T>G (p.Cys727Gly) rs779167673
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2192C>T (p.Thr731Ile) rs2118029007
NM_000264.5(PTCH1):c.2197T>C (p.Ser733Pro) rs2118028468
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr) rs2118027491
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg) rs1185984575
NM_000264.5(PTCH1):c.2225C>T (p.Pro742Leu) rs1185984575
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu) rs1840271655
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe) rs749283740
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln) rs1840269986
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
NM_000264.5(PTCH1):c.2250+4_2250+5dup
NM_000264.5(PTCH1):c.2250+6C>T
NM_000264.5(PTCH1):c.2251-3C>G rs1588569651
NM_000264.5(PTCH1):c.2254G>A (p.Val752Met) rs2117976199
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met) rs1588569635
NM_000264.5(PTCH1):c.2258T>C (p.Val753Ala) rs1840114511
NM_000264.5(PTCH1):c.2260A>G (p.Ile754Val)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr) rs997156828
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala) rs2117974684
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile) rs544963328
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
NM_000264.5(PTCH1):c.22G>A (p.Ala8Thr) rs2118910390
NM_000264.5(PTCH1):c.22G>T (p.Ala8Ser) rs2118910390
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser) rs878853850
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
NM_000264.5(PTCH1):c.2312T>C (p.Val771Ala)
NM_000264.5(PTCH1):c.2315G>A (p.Arg772Lys) rs1840106487
NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu) rs141134542
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg) rs2117971100
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu) rs923429610
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala) rs869025270
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu) rs1388496324
NM_000264.5(PTCH1):c.2338A>G (p.Ile780Val) rs1388496324
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala) rs2117968922
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=) rs1060502293
NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly) rs1060502293
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp) rs1060502293
NM_000264.5(PTCH1):c.2348G>T (p.Arg783Leu) rs779296683
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys) rs1554708787
NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp) rs1840099623
NM_000264.5(PTCH1):c.2356A>G (p.Arg786Gly) rs2117967668
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
NM_000264.5(PTCH1):c.2359G>A (p.Glu787Lys)
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met) rs1564088372
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly) rs1588569206
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His) rs1840096887
NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val) rs1840096220
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu) rs1060502300
NM_000264.5(PTCH1):c.2377G>A (p.Ala793Thr) rs1554694390
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro) rs1554694390
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
NM_000264.5(PTCH1):c.23C>T (p.Ala8Val) rs1843914282
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu) rs1840091372
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser) rs1840091155
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile) rs2117961342
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr) rs2118880380
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile) rs1840089871
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu) rs1840089681
NM_000264.5(PTCH1):c.2423A>G (p.Gln808Arg)
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly) rs1843664597
NM_000264.5(PTCH1):c.2435A>G (p.Tyr812Cys)
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro) rs1564030723
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg) rs1587693690
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser) rs1174748645
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys) rs2117951860
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr) rs1060502269
NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile) rs1840081126
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys) rs1588568559
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly) rs1554708772
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His) rs41313327
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro) rs1554694254
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro) rs587778628
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr) rs1703756604
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser) rs1703756604
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn) rs2136689511
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys) rs1277861627
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser) rs1839515437
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del) rs1060502296
NM_000264.5(PTCH1):c.25G>A (p.Glu9Lys) rs1843914121
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val) rs2136689015
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys) rs1345518847
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile) rs2136688957
NM_000264.5(PTCH1):c.2615A>C (p.Asn872Thr) rs769029578
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His) rs2136688723
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys) rs1839512647
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu) rs2136688658
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
NM_000264.5(PTCH1):c.2634C>G (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala) rs1839509519
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys) rs2136687938
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His) rs777777450
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg) rs1843661629
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr) rs1839503876
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu) rs1839503471
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met) rs1588551373
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2703+4C>T rs1839501465
NM_000264.5(PTCH1):c.2703+6C>G rs956716678
NM_000264.5(PTCH1):c.2703+6C>T rs956716678
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=) rs1348603148
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser) rs1564021882
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln) rs2136673392
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys) rs864622088
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys) rs1588545099
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn) rs1588545054
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His) rs1588545054
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val) rs1839297206
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu) rs1839296987
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu) rs1588544970
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr) rs2136672620
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met) rs1564021738
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser) rs2136672306
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys) rs786204224
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr) rs1554691690
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys) rs1564088256
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val) rs768558478
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro) rs1554691676
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser) rs1588544538
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe) rs1839284772
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu) rs778810550
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His) rs587780534
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp) rs1564021422
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser) rs749406453
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met) rs1839283096
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly) rs756465236
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro) rs767225445
NM_000264.5(PTCH1):c.2827C>T (p.Pro943Ser)
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr) rs1588544426
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr) rs1588544328
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His) rs2136670259
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala) rs1839275609
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser) rs1839275609
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu) rs532713234
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg) rs1376533047
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=) rs1839273856
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu) rs2136669790
NM_000264.5(PTCH1):c.2887+4A>G rs1588544193
NM_000264.5(PTCH1):c.2887+4_2887+7del rs2136669708
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met) rs878853853
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr) rs1839141749
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala) rs1839141749
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser) rs1587701162
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met) rs748318700
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro) rs2136662633
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His) rs1564019804
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu) rs1588540820
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro) rs863224652
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His) rs1588540767
NM_000264.5(PTCH1):c.2936A>T (p.Asn979Ile)
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly) rs867973996
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser) rs1839130173
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp) rs753884837
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val) rs1189382722
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg) rs2136661892
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile) rs1588540545
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys) rs1839126241
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn) rs2136661772
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr) rs1839124943
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys) rs2136661651
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys) rs1839124423
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg) rs1564019538
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu) rs1839122259
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro) rs1839121774
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn) rs1286123273
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile) rs1286123273
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala) rs1588540255
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser) rs1588540255
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del) rs2136660602
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys) rs752317944
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala) rs1588540060
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys) rs1839109856
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg) rs763031827
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln) rs2136660617
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu) rs1839103824
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg) rs2136660230
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile) rs2136660189
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala) rs1839101189
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile) rs1564019097
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys) rs1839099591
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile) rs1053698119
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys) rs1588539644
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly) rs1564019039
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg) rs2136659721
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3168+6T>A rs1839094345
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala) rs1838931276
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe) rs2118876683
NM_000264.5(PTCH1):c.31C>A (p.Gln11Lys)
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3205G>A (p.Gly1069Ser) rs2136649648
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val) rs1588535858
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg) rs2136649542
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro) rs1554691033
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg) rs1838925156
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr) rs2118876529
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His) rs2136648648
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val) rs777291938
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val) rs2136648402
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu) rs1843655328
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val) rs1838920838
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser) rs1587693269
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys) rs1587693269
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val) rs2136647902
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met) rs1588535447
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln) rs1588535427
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu) rs745563970
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg) rs1843654942
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val) rs1554690984
NM_000264.5(PTCH1):c.3306+5G>A rs587780701
NM_000264.5(PTCH1):c.3306+6G>T rs777678813
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=) rs1564017035
NM_000264.5(PTCH1):c.3307-3C>T
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser) rs1838668785
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu) rs1554690489
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn) rs911494100
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His) rs911494100
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr) rs911494100
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg) rs2136632174
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=) rs1838662525
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3362A>G (p.His1121Arg) rs1838661805
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu) rs1838661805
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val) rs1838661361
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys) rs929802114
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe) rs147025073
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.33G>C (p.Gln11His) rs1320203029
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.340G>A (p.Val114Met) rs1843653470
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu) rs1843653470
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val) rs1838654825
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met) rs1439411173
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
NM_000264.5(PTCH1):c.3449+3A>G rs201942643
NM_000264.5(PTCH1):c.3449+6C>T rs2136630772
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu) rs544052043
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val) rs544052043
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr) rs878853857
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro) rs878853857
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly) rs1838315753
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met) rs1588519562
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu) rs1588519562
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val) rs1838315273
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro) rs1588519508
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del) rs1838312038
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup) rs1838312038
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe) rs2136608105
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser) rs1271099813
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=) rs1838309835
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe) rs1838309603
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del) rs1838308465
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met) rs1588519372
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys) rs864622160
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala) rs1314555601
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala) rs1259037941
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser) rs1259037941
NM_000264.5(PTCH1):c.3549+4A>T
NM_000264.5(PTCH1):c.3549+5G>T rs565899674
NM_000264.5(PTCH1):c.3550-10C>A rs2136603294
NM_000264.5(PTCH1):c.3550-4A>G rs1838244885
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu) rs1838242467
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr) rs1838241713
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp) rs1319757275
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys) rs864622621
NM_000264.5(PTCH1):c.3565G>C (p.Gly1189Arg) rs767535853
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu) rs762040036
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile) rs1588517836
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser) rs1588517811
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg) rs1564008924
NM_000264.5(PTCH1):c.3593C>T (p.Pro1198Leu)
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His) rs1838233041
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser) rs1384935549
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs) rs2136601667
NM_000264.5(PTCH1):c.3606dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>G (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp) rs775882469
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser) rs945517672
NM_000264.5(PTCH1):c.3623C>A (p.Ala1208Asp) rs914090288
NM_000264.5(PTCH1):c.3627G>A (p.Met1209Ile) rs1838227370
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala) rs1564008713
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn) rs1554689404
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg) rs377608291
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp) rs768986314
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys) rs374150356
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala) rs1838222745
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val) rs2136600284
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe) rs1375226181
NM_000264.5(PTCH1):c.365A>C (p.Glu122Ala) rs1843650243
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe) rs1838221565
NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys) rs2136599880
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter) rs1588517196
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg) rs1838218958
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser) rs1838218744
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile) rs1843649762
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
NM_000264.5(PTCH1):c.36C>A (p.Asp12Glu) rs1057522533
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro) rs1838217335
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg) rs1051927200
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr) rs2136598509
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del) rs760239449
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp) rs1838214724
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs) rs2136597743
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu) rs1838213882
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val) rs1588516924
NM_000264.5(PTCH1):c.3742G>A (p.Gly1248Arg) rs2136597903
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg) rs1838211042
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro) rs1838210172
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg) rs1838210172
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3765C>G (p.Ile1255Met) rs758229027
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys) rs750397931
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro) rs1838207256
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile) rs2136597007
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu) rs1838206596
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala) rs1588516673
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
NM_000264.5(PTCH1):c.37C>A (p.Arg13Ser)
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys) rs779791579
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser) rs1554689262
NM_000264.5(PTCH1):c.3804+2dup rs1588516590
NM_000264.5(PTCH1):c.3804+3_3804+6del
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met) rs1838059096
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu) rs1838059096
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr) rs1554688752
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg) rs1838057444
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu) rs774167762
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp) rs786204190
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr) rs786204190
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr) rs1838054298
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg) rs755092661
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu) rs2136584562
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser) rs1166276004
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala) rs2136584448
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
NM_000264.5(PTCH1):c.3845C>G (p.Pro1282Arg)
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter) rs1838050037
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr) rs1838047745
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del) rs1064792957
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val) rs1588512171
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg) rs2136583470
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser) rs1060502275
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg) rs372828014
NM_000264.5(PTCH1):c.3887G>T (p.Gly1296Val) rs2136583024
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.38G>A (p.Arg13His) rs1843911577
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys) rs1838039734
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr) rs1838039734
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser) rs1169961504
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His) rs864622483
NM_000264.5(PTCH1):c.391G>A (p.Glu131Lys) rs1321623220
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe) rs761688859
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter) rs1360926879
NM_000264.5(PTCH1):c.394+2dup rs1587692814
NM_000264.5(PTCH1):c.394+4A>G
NM_000264.5(PTCH1):c.394+6A>T
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val) rs2136581220
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe) rs1588511695
NM_000264.5(PTCH1):c.3944_3945insT (p.Tyr1316fs) rs1838031865
NM_000264.5(PTCH1):c.395-6T>G rs1162835966
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser) rs1211632031
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu) rs572658914
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly) rs1838027827
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val) rs1054532927
NM_000264.5(PTCH1):c.3968T>C (p.Phe1323Ser)
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala) rs761753681
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg) rs1564005652
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup) rs1588511230
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr) rs200620662
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg) rs933654875
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys) rs1838019737
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu) rs771238114
NM_000264.5(PTCH1):c.4018G>A (p.Gly1340Ser)
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly) rs781539921
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu) rs575146278
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp) rs200100952
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val) rs1060502289
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe) rs1554688418
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr) rs760724368
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu) rs2136578408
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser) rs1588510932
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys) rs1564005341
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu) rs1022984391
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile) rs779482395
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val) rs2136577556
NM_000264.5(PTCH1):c.406G>A (p.Val136Ile) rs1240746395
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro) rs1838003007
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser) rs1838001528
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys) rs1838000346
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe) rs1397510746
NM_000264.5(PTCH1):c.40G>A (p.Gly14Ser) rs1233426743
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del) rs756897237
NM_000264.5(PTCH1):c.40GGC[6] (p.Gly16_Gly17dup) rs756897237
NM_000264.5(PTCH1):c.40GGC[7] (p.Gly15_Gly17dup) rs756897237
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile) rs762925808
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met) rs1837997469
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr) rs1267726258
NM_000264.5(PTCH1):c.4118C>G (p.Ala1373Gly) rs2136576006
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser) rs769022340
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu) rs745337014
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu) rs2136575538
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro) rs111481152
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser) rs111481152
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu) rs187104739
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro) rs1837991686
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln) rs1207158056
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg) rs552921967
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3]) rs1060502272
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs) rs1837987148
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser) rs1180812915
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg) rs1837985984
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu) rs1837985984
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg) rs1239904766
NM_000264.5(PTCH1):c.4168G>T (p.Gly1390Trp) rs1239904766
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu) rs1837985101
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr) rs1388774785
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs) rs1297699637
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=) rs769616992
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val) rs747923595
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs) rs1588510168
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile) rs1837978959
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe) rs1837978959
NM_000264.5(PTCH1):c.4191_4192dup (p.Cys1398fs)
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg) rs1372936088
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs) rs1837977676
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu) rs1564004776
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His) rs2136573477
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys) rs1837975310
NM_000264.5(PTCH1):c.4207G>A (p.Glu1403Lys)
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly) rs1837974768
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp) rs1837973275
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln) rs372558350
NM_000264.5(PTCH1):c.4218del (p.His1406fs) rs2136573069
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp) rs1841928550
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys) rs1554688143
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu) rs1434554186
NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly) rs774913538
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu) rs2136572617
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala) rs1554688130
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser) rs1554688130
NM_000264.5(PTCH1):c.4238A>G (p.His1413Arg)
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala) rs1837967897
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu) rs1554688102
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys) rs1837966836
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe) rs369882883
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala) rs2136572074
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr) rs913816675
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys) rs575473447
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly) rs1246323077
NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly)
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr) rs1837962537
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala) rs1060502283
NM_000264.5(PTCH1):c.4282G>A (p.Glu1428Lys)
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln) rs755078405
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly) rs2136571074
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly) rs2136570975
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp) rs368571026
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly) rs1564004291
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys) rs1354112241
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu) rs1316474105
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly) rs143464326
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu) rs56023271
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn) rs1347860599
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe) rs2136570475
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val) rs1564063300
NM_000264.5(PTCH1):c.43G>A (p.Gly15Ser) rs1240000266
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr) rs1588622790
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile) rs1302474403
NM_000264.5(PTCH1):c.469C>A (p.Leu157Ile)
NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro) rs2118545890
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu) rs758656848
NM_000264.5(PTCH1):c.472A>G (p.Met158Val) rs758656848
NM_000264.5(PTCH1):c.474G>A (p.Met158Ile)
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val) rs1060502288
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg) rs1060502267
NM_000264.5(PTCH1):c.47G>A (p.Gly16Asp) rs1843909922
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu) rs1588622580
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr) rs56406491
NM_000264.5(PTCH1):c.488A>G (p.Lys163Arg) rs56406491
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del) rs1201611173
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys) rs2118544070
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser) rs2118543729
NM_000264.5(PTCH1):c.49_57dup (p.Gly19_Cys20insGlySerGly)
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val) rs587780707
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp) rs2118543274
NM_000264.5(PTCH1):c.503A>C (p.Asn168Thr)
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile) rs1554702106
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly) rs772368023
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del) rs864622108
NM_000264.5(PTCH1):c.52A>G (p.Ser18Gly) rs1199437529
NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)
NM_000264.5(PTCH1):c.52_57dup (p.Ser18_Gly19dup) rs1554709549
NM_000264.5(PTCH1):c.531A>T (p.Gln177His) rs1841912540
NM_000264.5(PTCH1):c.533A>G (p.His178Arg) rs1588622337
NM_000264.5(PTCH1):c.538G>C (p.Asp180His) rs1554702067
NM_000264.5(PTCH1):c.53G>T (p.Ser18Ile)
NM_000264.5(PTCH1):c.540C>G (p.Asp180Glu)
NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr) rs2118539440
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val) rs1276503562
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly) rs1564062769
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys) rs1554702047
NM_000264.5(PTCH1):c.55_57dup (p.Gly19dup) rs1587700945
NM_000264.5(PTCH1):c.55_60del (p.Gly19_Cys20del) rs1554709544
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu) rs1841905841
NM_000264.5(PTCH1):c.56G>A (p.Gly19Asp) rs587780708
NM_000264.5(PTCH1):c.56G>C (p.Gly19Ala)
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His) rs1841905015
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg) rs1312950307
NM_000264.5(PTCH1):c.58T>A (p.Cys20Ser)
NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp) rs767791358
NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
NM_000264.5(PTCH1):c.59G>C (p.Cys20Ser)
NM_000264.5(PTCH1):c.5C>T (p.Ala2Val) rs1843916565
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr) rs1841595401
NM_000264.5(PTCH1):c.61A>G (p.Ile21Val) rs756724967
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala) rs2118473498
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val) rs1588614551
NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe) rs1588614551
NM_000264.5(PTCH1):c.62T>A (p.Ile21Asn) rs1843904837
NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
NM_000264.5(PTCH1):c.63C>G (p.Ile21Met) rs1284183739
NM_000264.5(PTCH1):c.63C>T (p.Ile21=) rs1284183739
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val) rs2118472707
NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
NM_000264.5(PTCH1):c.654+3A>G rs1131690966
NM_000264.5(PTCH1):c.65G>T (p.Gly22Val) rs575700967
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys) rs1554700647
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu) rs2118465097
NM_000264.5(PTCH1):c.685A>G (p.Ile229Val) rs1841575695
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser) rs1564057856
NM_000264.5(PTCH1):c.6_11del (p.Ser3_Ala4del) rs2118910700
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe) rs1060502299
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
NM_000264.5(PTCH1):c.71C>G (p.Pro24Arg) rs767973616
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser) rs2118460143
NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg) rs1841570436
NM_000264.5(PTCH1):c.73G>A (p.Gly25Arg)
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe) rs1841568646
NM_000264.5(PTCH1):c.746+3A>G rs1841567989
NM_000264.5(PTCH1):c.746+5G>C
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala) rs774712511
NM_000264.5(PTCH1):c.74_75delinsAT (p.Gly25Asp) rs1843902347
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu) rs2118428694
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp) rs1408427240
NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser) rs1318134628
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
NM_000264.5(PTCH1):c.79C>G (p.Pro27Ala) rs1245076183
NM_000264.5(PTCH1):c.79C>T (p.Pro27Ser) rs1245076183
NM_000264.5(PTCH1):c.7T>A (p.Ser3Thr) rs2118910766
NM_000264.5(PTCH1):c.7T>G (p.Ser3Ala) rs2118910766
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg) rs1841454562
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu) rs2118422378
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
NM_000264.5(PTCH1):c.83C>T (p.Ala28Val) rs1220641430
NM_000264.5(PTCH1):c.841A>G (p.Met281Val) rs2118420301
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_000264.5(PTCH1):c.849T>G (p.Asn283Lys)
NM_000264.5(PTCH1):c.850A>C (p.Lys284Gln) rs1841450813
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys) rs1841450226
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg) rs2118909022
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser) rs2118418275
NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp) rs864622130
NM_000264.5(PTCH1):c.86G>A (p.Gly29Glu) rs2118909005
NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys) rs1841447254
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe) rs1841445491
NM_000264.5(PTCH1):c.892A>C (p.Asn298His) rs1588609918
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln) rs141939274
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
NM_000264.5(PTCH1):c.8C>G (p.Ser3Trp) rs1587701230
NM_000264.5(PTCH1):c.8C>T (p.Ser3Leu) rs1587701230
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr) rs767601899
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala) rs1197814180
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly) rs2118413122
NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser) rs2118412532
NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu) rs1564055253
NM_000264.5(PTCH1):c.945+3G>A rs775144388
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+4A>C rs1564055215
NM_000264.5(PTCH1):c.945+6dup rs2118410569
NM_000264.5(PTCH1):c.946-19G>A
NM_000264.5(PTCH1):c.946-5T>C rs1588608882
NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu) rs143813198
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000264.5(PTCH1):c.94A>G (p.Arg32Gly) rs913603578
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser) rs1554699658
NM_000264.5(PTCH1):c.959C>T (p.Ala320Val) rs2118395686
NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met) rs1358555059
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser) rs1588608738
NM_000264.5(PTCH1):c.97C>T (p.Arg33Cys)
NM_000264.5(PTCH1):c.988T>G (p.Leu330Val) rs1841408486
NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys) rs1841408288
NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr) rs1564054690
NM_000264.5(PTCH1):c.998A>T (p.Lys333Met) rs1238175144
NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys)
NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro)
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser)
NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg)
NM_003738.5(PTCH2):c.106C>G (p.Leu36Val) rs2148886480
NM_003738.5(PTCH2):c.1072C>T (p.Arg358Cys)
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu) rs745653597
NM_003738.5(PTCH2):c.1083+5G>A rs1653336998
NM_003738.5(PTCH2):c.1083G>C (p.Gln361His) rs2148877935
NM_003738.5(PTCH2):c.1090C>T (p.Gln364Ter) rs1315638429
NM_003738.5(PTCH2):c.1111G>A (p.Ala371Thr) rs201191113
NM_003738.5(PTCH2):c.1111G>C (p.Ala371Pro) rs201191113
NM_003738.5(PTCH2):c.1117C>T (p.Gln373Ter)
NM_003738.5(PTCH2):c.1127A>G (p.His376Arg)
NM_003738.5(PTCH2):c.1142C>T (p.Thr381Ile) rs1653328317
NM_003738.5(PTCH2):c.116A>T (p.Tyr39Phe) rs746706971
NM_003738.5(PTCH2):c.1172C>T (p.Ser391Phe) rs1553165363
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.1181G>A (p.Ser394Asn)
NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)
NM_003738.5(PTCH2):c.1189del (p.Arg397fs) rs778199787
NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)
NM_003738.5(PTCH2):c.1210C>T (p.Leu404Phe)
NM_003738.5(PTCH2):c.1215+4G>A
NM_003738.5(PTCH2):c.1216-1G>C rs781065537
NM_003738.5(PTCH2):c.1218G>A (p.Leu406=) rs2148877355
NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter) rs1573648782
NM_003738.5(PTCH2):c.126C>T (p.Gly42=) rs771823715
NM_003738.5(PTCH2):c.1285G>A (p.Gly429Arg) rs772212841
NM_003738.5(PTCH2):c.1292T>C (p.Leu431Pro)
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_003738.5(PTCH2):c.1297G>A (p.Val433Met)
NM_003738.5(PTCH2):c.1309G>A (p.Val437Met)
NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu)
NM_003738.5(PTCH2):c.1326del (p.Leu443fs) rs755069524
NM_003738.5(PTCH2):c.1372-1G>T
NM_003738.5(PTCH2):c.1379C>A (p.Pro460His)
NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)
NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)
NM_003738.5(PTCH2):c.1417del (p.Leu473fs) rs1653297701
NM_003738.5(PTCH2):c.1424C>A (p.Ala475Glu)
NM_003738.5(PTCH2):c.1427A>G (p.His476Arg) rs1653296842
NM_003738.5(PTCH2):c.1448C>T (p.Pro483Leu) rs2148876862
NM_003738.5(PTCH2):c.1465-1G>A
NM_003738.5(PTCH2):c.1468C>T (p.Arg490Cys)
NM_003738.5(PTCH2):c.1475G>T (p.Gly492Val) rs1653276978
NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp)
NM_003738.5(PTCH2):c.1517C>A (p.Ser506Tyr) rs1322200411
NM_003738.5(PTCH2):c.1523A>G (p.Asn508Ser)
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
NM_003738.5(PTCH2):c.1526dup (p.Asn509fs) rs1329842135
NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr)
NM_003738.5(PTCH2):c.1543A>G (p.Met515Val)
NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr) rs1382444662
NM_003738.5(PTCH2):c.1565C>T (p.Pro522Leu)
NM_003738.5(PTCH2):c.1568dup (p.Leu524fs)
NM_003738.5(PTCH2):c.1590+17G>A rs753968565
NM_003738.5(PTCH2):c.1621G>T (p.Ala541Ser) rs778833779
NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val)
NM_003738.5(PTCH2):c.1652G>T (p.Ser551Ile)
NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys)
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
NM_003738.5(PTCH2):c.1685_1709+14dup
NM_003738.5(PTCH2):c.1716del (p.Ser573fs)
NM_003738.5(PTCH2):c.1725G>A (p.Gln575=)
NM_003738.5(PTCH2):c.1726G>A (p.Val576Met) rs867905557
NM_003738.5(PTCH2):c.172G>C (p.Val58Leu)
NM_003738.5(PTCH2):c.1737C>G (p.Ile579Met) rs2148876037
NM_003738.5(PTCH2):c.1753G>C (p.Gly585Arg)
NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile) rs1653965168
NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile)
NM_003738.5(PTCH2):c.1786C>G (p.Leu596Val) rs2148875992
NM_003738.5(PTCH2):c.1795A>G (p.Thr599Ala)
NM_003738.5(PTCH2):c.1816T>C (p.Cys606Arg) rs2148875968
NM_003738.5(PTCH2):c.1829G>T (p.Ser610Ile) rs2148875950
NM_003738.5(PTCH2):c.1835A>C (p.His612Pro)
NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe) rs1653244164
NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)
NM_003738.5(PTCH2):c.1927C>T (p.Arg643Trp)
NM_003738.5(PTCH2):c.1928G>A (p.Arg643Gln)
NM_003738.5(PTCH2):c.1930_1931insGGGGGGG (p.Asp644fs)
NM_003738.5(PTCH2):c.1932C>A (p.Asp644Glu)
NM_003738.5(PTCH2):c.1933C>T (p.Leu645Phe) rs1557644727
NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp)
NM_003738.5(PTCH2):c.1987T>C (p.Cys663Arg) rs775286824
NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly)
NM_003738.5(PTCH2):c.19C>T (p.Leu7Phe) rs1030456781
NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala)
NM_003738.5(PTCH2):c.2018G>A (p.Arg673His) rs760548568
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
NM_003738.5(PTCH2):c.2029G>C (p.Ala677Pro) rs1557644638
NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr)
NM_003738.5(PTCH2):c.2033_2054dup (p.Lys686fs) rs1653233688
NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu)
NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu)
NM_003738.5(PTCH2):c.2059G>T (p.Ala687Ser) rs2148875596
NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)
NM_003738.5(PTCH2):c.2107G>A (p.Gly703Arg)
NM_003738.5(PTCH2):c.2148G>A (p.Val716=)
NM_003738.5(PTCH2):c.215G>A (p.Gly72Asp)
NM_003738.5(PTCH2):c.2162C>T (p.Thr721Ile) rs1653221535
NM_003738.5(PTCH2):c.2174C>G (p.Ala725Gly) rs1243955468
NM_003738.5(PTCH2):c.2177T>C (p.Phe726Ser)
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu) rs1573645770
NM_003738.5(PTCH2):c.2180T>G (p.Leu727Arg) rs2148875486
NM_003738.5(PTCH2):c.2185G>A (p.Ala729Thr) rs765415578
NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser)
NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys)
NM_003738.5(PTCH2):c.2247C>A (p.Tyr749Ter) rs779837932
NM_003738.5(PTCH2):c.2252A>T (p.His751Leu)
NM_003738.5(PTCH2):c.2257del (p.Gln753fs) rs1653215847
NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser)
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
NM_003738.5(PTCH2):c.2275C>A (p.Leu759Met) rs2148875383
NM_003738.5(PTCH2):c.2276T>A (p.Leu759Gln) rs2148875381
NM_003738.5(PTCH2):c.2290A>G (p.Ser764Gly) rs769359308
NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met)
NM_003738.5(PTCH2):c.2312C>A (p.Pro771His)
NM_003738.5(PTCH2):c.2312C>T (p.Pro771Leu)
NM_003738.5(PTCH2):c.2318C>T (p.Pro773Leu) rs1404906503
NM_003738.5(PTCH2):c.2335C>G (p.Arg779Gly) rs745750666
NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys)
NM_003738.5(PTCH2):c.2336G>A (p.Arg779His) rs45493198
NM_003738.5(PTCH2):c.2336G>C (p.Arg779Pro)
NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys)
NM_003738.5(PTCH2):c.2361C>G (p.Asn787Lys) rs1573645402
NM_003738.5(PTCH2):c.2366T>C (p.Leu789Pro)
NM_003738.5(PTCH2):c.236A>C (p.Glu79Ala)
NM_003738.5(PTCH2):c.2370G>A (p.Gln790=)
NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu) rs1653198432
NM_003738.5(PTCH2):c.2379G>C (p.Gln793His)
NM_003738.5(PTCH2):c.2381C>G (p.Ala794Gly)
NM_003738.5(PTCH2):c.2411G>A (p.Arg804His) rs770837969
NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala)
NM_003738.5(PTCH2):c.2417C>A (p.Thr806Asn) rs139683072
NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu)
NM_003738.5(PTCH2):c.2432G>T (p.Arg811Leu) rs112613379
NM_003738.5(PTCH2):c.2435A>G (p.Asn812Ser) rs1218095612
NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe) rs1182782050
NM_003738.5(PTCH2):c.2479A>T (p.Thr827Ser)
NM_003738.5(PTCH2):c.2483G>C (p.Gly828Ala) rs761925367
NM_003738.5(PTCH2):c.2486_2487delinsTT (p.Asp829Val) rs1553165053
NM_003738.5(PTCH2):c.2487C>A (p.Asp829Glu) rs2295996
NM_003738.5(PTCH2):c.2488G>A (p.Ala830Thr)
NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu)
NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile)
NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe)
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys) rs2148874807
NM_003738.5(PTCH2):c.2542G>A (p.Glu848Lys)
NM_003738.5(PTCH2):c.2553dup (p.Pro852fs)
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
NM_003738.5(PTCH2):c.2572A>G (p.Met858Val)
NM_003738.5(PTCH2):c.2572A>T (p.Met858Leu) rs374498312
NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu)
NM_003738.5(PTCH2):c.2582C>G (p.Thr861Ser) rs1452021020
NM_003738.5(PTCH2):c.2582C>T (p.Thr861Ile)
NM_003738.5(PTCH2):c.2584G>C (p.Val862Leu)
NM_003738.5(PTCH2):c.2602C>A (p.Pro868Thr) rs1377075089
NM_003738.5(PTCH2):c.2605C>G (p.Leu869Val)
NM_003738.5(PTCH2):c.2605dup (p.Leu869fs) rs1553165035
NM_003738.5(PTCH2):c.2642C>G (p.Pro881Arg)
NM_003738.5(PTCH2):c.2642C>T (p.Pro881Leu)
NM_003738.5(PTCH2):c.2642dup (p.Pro882fs) rs1337855606
NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly)
NM_003738.5(PTCH2):c.2665_2666insTTCAGGGG (p.Lys889fs) rs2148874605
NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His)
NM_003738.5(PTCH2):c.266T>C (p.Val89Ala) rs752129680
NM_003738.5(PTCH2):c.2671G>A (p.Asp891Asn)
NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu)
NM_003738.5(PTCH2):c.2711C>T (p.Pro904Leu)
NM_003738.5(PTCH2):c.2728T>A (p.Phe910Ile) rs2148874300
NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)
NM_003738.5(PTCH2):c.274C>T (p.Arg92Trp)
NM_003738.5(PTCH2):c.2754G>C (p.Gln918His) rs2148874271
NM_003738.5(PTCH2):c.277G>C (p.Val93Leu) rs145784624
NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr)
NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp)
NM_003738.5(PTCH2):c.2842G>A (p.Gly948Ser)
NM_003738.5(PTCH2):c.2845_2846delinsAA (p.Ser949Asn)
NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu)
NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val)
NM_003738.5(PTCH2):c.287A>T (p.Glu96Val)
NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp)
NM_003738.5(PTCH2):c.2885G>A (p.Arg962His)
NM_003738.5(PTCH2):c.2893del (p.Leu965fs)
NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)
NM_003738.5(PTCH2):c.2925_2926insGCT (p.Thr975_Phe976insAla) rs1459615294
NM_003738.5(PTCH2):c.2927T>C (p.Phe976Ser) rs2148874033
NM_003738.5(PTCH2):c.2944_2945delinsGG (p.Leu982Gly) rs2148874009
NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe)
NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp)
NM_003738.5(PTCH2):c.2976+1G>A
NM_003738.5(PTCH2):c.2977-2A>G
NM_003738.5(PTCH2):c.2977-5C>A rs950394831
NM_003738.5(PTCH2):c.2996T>C (p.Met999Thr) rs149189451
NM_003738.5(PTCH2):c.3010T>C (p.Phe1004Leu)
NM_003738.5(PTCH2):c.3011_3012del (p.Phe1004fs) rs2148873780
NM_003738.5(PTCH2):c.3020T>C (p.Met1007Thr) rs973768191
NM_003738.5(PTCH2):c.3041T>A (p.Leu1014Gln)
NM_003738.5(PTCH2):c.3083T>C (p.Ile1028Thr) rs371907442
NM_003738.5(PTCH2):c.3088G>A (p.Val1030Ile)
NM_003738.5(PTCH2):c.308A>C (p.Lys103Thr)
NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)
NM_003738.5(PTCH2):c.3107T>G (p.Val1036Gly) rs1653137067
NM_003738.5(PTCH2):c.3128C>T (p.Thr1043Ile)
NM_003738.5(PTCH2):c.313G>A (p.Gly105Arg)
NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln)
NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln) rs761953363
NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg) rs1573639533
NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp)
NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu)
NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser) rs1573666565
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.3272C>A (p.Ala1091Glu)
NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val) rs369600860
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.3301C>T (p.Leu1101Phe)
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.3352C>T (p.Pro1118Ser)
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.3473C>T (p.Thr1158Ile)
NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr) rs576908403
NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)
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.3553C>T (p.Pro1185Ser) rs1162501288
NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)
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.386C>T (p.Pro129Leu) rs1421459206
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.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+3A>G
NM_003738.5(PTCH2):c.525+6T>C
NM_003738.5(PTCH2):c.525+6T>G
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.554T>C (p.Ile185Thr)
NM_003738.5(PTCH2):c.563C>A (p.Pro188His) rs372784104
NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg)
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.619G>T (p.Gly207Cys)
NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)
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+5G>T rs1417599434
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.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.811dup (p.Gln271fs) rs1653413924
NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
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.905T>G (p.Met302Arg)
NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys) rs1653355659
NM_003738.5(PTCH2):c.936-1G>A
NM_003738.5(PTCH2):c.939_946del (p.Glu314fs) rs2148878116
NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)
NM_003738.5(PTCH2):c.944C>T (p.Ala315Val)
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)
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del) rs1589969829

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.