ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 380
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437 0.00019
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.2148C>T (p.Ser716=) rs781475120 0.00014
NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr) rs145217620 0.00012
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.2215C>T (p.His739Tyr) rs200189314 0.00009
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met) rs747762028 0.00009
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.2124A>G (p.Thr708=) rs147204440 0.00007
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.1998G>A (p.Thr666=) rs369710438 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met) rs372219420 0.00004
NM_000264.5(PTCH1):c.2049C>T (p.Ser683=) rs756242911 0.00004
NM_000264.5(PTCH1):c.2439G>A (p.Pro813=) rs151266988 0.00004
NM_000264.5(PTCH1):c.1934A>G (p.Tyr645Cys) rs772841736 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys) rs78708791 0.00003
NM_000264.5(PTCH1):c.2512A>G (p.Lys838Glu) rs1185902807 0.00003
NM_000264.5(PTCH1):c.1729-5C>T rs763030829 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) rs1060502266 0.00002
NM_000264.5(PTCH1):c.1902C>T (p.His634=) rs761015917 0.00002
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys) rs1053507002 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.2043G>A (p.Pro681=) rs745862347 0.00002
NM_000264.5(PTCH1):c.2067C>T (p.Pro689=) rs758799508 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2139C>T (p.Ser713=) rs143630307 0.00002
NM_000264.5(PTCH1):c.2169C>T (p.Leu723=) rs1176604355 0.00002
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu) rs1239869539 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln) rs779296683 0.00002
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile) rs751708515 0.00001
NM_000264.5(PTCH1):c.1804C>A (p.Arg602=) rs863224650 0.00001
NM_000264.5(PTCH1):c.1816A>C (p.Arg606=) rs1389910090 0.00001
NM_000264.5(PTCH1):c.1817G>A (p.Arg606Lys) rs748991295 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.1845A>G (p.Thr615=) rs755882246 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1893C>T (p.Thr631=) rs757344587 0.00001
NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile) rs369090032 0.00001
NM_000264.5(PTCH1):c.1926A>C (p.Pro642=) rs1288935191 0.00001
NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly) rs375049109 0.00001
NM_000264.5(PTCH1):c.1955A>G (p.His652Arg) rs1420640611 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala) rs753850577 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.1992C>A (p.Leu664=) rs1466845678 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met) rs752043221 0.00001
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn) rs772574714 0.00001
NM_000264.5(PTCH1):c.2016G>A (p.Thr672=) rs776286129 0.00001
NM_000264.5(PTCH1):c.2019C>T (p.His673=) rs587780695 0.00001
NM_000264.5(PTCH1):c.2020G>A (p.Val674Met) rs1060502291 0.00001
NM_000264.5(PTCH1):c.2022G>A (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2034C>T (p.Thr678=) rs779883480 0.00001
NM_000264.5(PTCH1):c.2035G>A (p.Ala679Thr) rs771882746 0.00001
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His) rs1366288601 0.00001
NM_000264.5(PTCH1):c.2063A>G (p.Gln688Arg) rs751955563 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2085C>T (p.Asp695=) rs1452372504 0.00001
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala) rs1588574496 0.00001
NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe) rs547829353 0.00001
NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr) rs140497736 0.00001
NM_000264.5(PTCH1):c.2118C>T (p.Ser706=) rs943011476 0.00001
NM_000264.5(PTCH1):c.2123C>T (p.Thr708Ile) rs1060502290 0.00001
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly) rs1402724349 0.00001
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu) rs774362306 0.00001
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg) rs1051496812 0.00001
NM_000264.5(PTCH1):c.2149G>A (p.Asp717Asn) rs1311707136 0.00001
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) rs747274181 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2179T>C (p.Cys727Arg) rs779167673 0.00001
NM_000264.5(PTCH1):c.2193A>T (p.Thr731=) rs760285524 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.2235G>A (p.Leu745=) rs749283740 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln) rs762942660 0.00001
NM_000264.5(PTCH1):c.2313G>A (p.Val771=) rs773304123 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=) rs1369922802 0.00001
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp) rs1159846014 0.00001
NM_000264.5(PTCH1):c.2364T>C (p.Tyr788=) rs1362991131 0.00001
NM_000264.5(PTCH1):c.2367C>T (p.Asp789=) rs908085179 0.00001
NM_000264.5(PTCH1):c.2370T>C (p.Phe790=) rs1060502300 0.00001
NM_000264.5(PTCH1):c.2379A>G (p.Ala793=) rs140673214 0.00001
NM_000264.5(PTCH1):c.2391C>T (p.Tyr797=) rs778260156 0.00001
NM_000264.5(PTCH1):c.2429C>T (p.Ala810Val) rs1228732568 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn) rs762855028 0.00001
NM_000264.5(PTCH1):c.2466A>G (p.Leu822=) rs750317626 0.00001
NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr) rs370915763 0.00001
NM_000264.5(PTCH1):c.2469C>T (p.His823=) rs761707282 0.00001
NM_000264.5(PTCH1):c.2505A>G (p.Glu835=) rs749651063 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.2560+10C>T rs779855404 0.00001
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr) rs1554695631
NM_000264.5(PTCH1):c.1731A>C (p.Ala577=)
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=) rs765440424
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile) rs1840408569
NM_000264.5(PTCH1):c.1738G>T (p.Val580Leu)
NM_000264.5(PTCH1):c.1739T>G (p.Val580Gly)
NM_000264.5(PTCH1):c.1740A>T (p.Val580=)
NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala) rs777030659
NM_000264.5(PTCH1):c.1742T>G (p.Val581Gly)
NM_000264.5(PTCH1):c.1746G>A (p.Val582=) rs1588578518
NM_000264.5(PTCH1):c.1747T>C (p.Phe583Leu)
NM_000264.5(PTCH1):c.1747T>G (p.Phe583Val) rs1554695616
NM_000264.5(PTCH1):c.1755dup (p.Ala586fs)
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr) rs1699771172
NM_000264.5(PTCH1):c.1758C>A (p.Ala586=) rs2118096020
NM_000264.5(PTCH1):c.1767G>A (p.Leu589=)
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
NM_000264.5(PTCH1):c.1774T>C (p.Phe592Leu)
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter) rs863224650
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln) rs1382474804
NM_000264.5(PTCH1):c.1807C>A (p.Arg603Ser)
NM_000264.5(PTCH1):c.1808G>C (p.Arg603Pro) rs199523893
NM_000264.5(PTCH1):c.1809C>G (p.Arg603=) rs145690756
NM_000264.5(PTCH1):c.1816A>T (p.Arg606Trp)
NM_000264.5(PTCH1):c.1818G>A (p.Arg606=)
NM_000264.5(PTCH1):c.1821A>G (p.Arg607=)
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val) rs1588578266
NM_000264.5(PTCH1):c.1830T>G (p.Ile610Met)
NM_000264.5(PTCH1):c.1833C>T (p.Phe611=)
NM_000264.5(PTCH1):c.1838G>A (p.Cys613Tyr)
NM_000264.5(PTCH1):c.1840T>G (p.Phe614Val) rs1193948667
NM_000264.5(PTCH1):c.1842del (p.Phe614fs) rs1131690991
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.1853G>C (p.Cys618Ser)
NM_000264.5(PTCH1):c.1862G>A (p.Arg621Lys) rs751536947
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met) rs765258547
NM_000264.5(PTCH1):c.1875T>C (p.Val625=)
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser) rs1840320961
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.1900C>A (p.His634Asn) rs764218645
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln) rs761015917
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr) rs372555269
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val) rs200321717
NM_000264.5(PTCH1):c.1906A>G (p.Asn636Asp) rs1390308281
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser) rs1588575591
NM_000264.5(PTCH1):c.1908T>C (p.Asn636=) rs538643667
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
NM_000264.5(PTCH1):c.1919G>T (p.Ser640Ile)
NM_000264.5(PTCH1):c.1921C>T (p.Pro641Ser)
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln) rs762371629
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg) rs762371629
NM_000264.5(PTCH1):c.1925C>T (p.Pro642Leu) rs762371629
NM_000264.5(PTCH1):c.1927C>T (p.Pro643Ser) rs1588575445
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
NM_000264.5(PTCH1):c.1928C>T (p.Pro643Leu)
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr) rs1840312910
NM_000264.5(PTCH1):c.1932C>A (p.Pro644=)
NM_000264.5(PTCH1):c.1932C>G (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1940G>C (p.Ser647Thr)
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg) rs2118052149
NM_000264.5(PTCH1):c.1944C>G (p.His648Gln)
NM_000264.5(PTCH1):c.1944C>T (p.His648=)
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val) rs1554695145
NM_000264.5(PTCH1):c.1962G>A (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1971C>T (p.Thr657=)
NM_000264.5(PTCH1):c.1976A>G (p.Gln659Arg)
NM_000264.5(PTCH1):c.1977G>A (p.Gln659=) rs1588575126
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=) rs1840303330
NM_000264.5(PTCH1):c.2007C>T (p.Asp669=)
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu) rs2118046186
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp) rs376678753
NM_000264.5(PTCH1):c.2011C>T (p.His671Tyr)
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
NM_000264.5(PTCH1):c.2019C>A (p.His673Gln)
NM_000264.5(PTCH1):c.2021T>G (p.Val674Gly)
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)
NM_000264.5(PTCH1):c.2027A>G (p.Tyr676Cys) rs1274998781
NM_000264.5(PTCH1):c.2028C>A (p.Tyr676Ter)
NM_000264.5(PTCH1):c.2031C>A (p.Thr677=)
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=) rs2118044176
NM_000264.5(PTCH1):c.2036C>G (p.Ala679Gly)
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.2046C>T (p.Arg682=)
NM_000264.5(PTCH1):c.2049C>G (p.Ser683=) rs756242911
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
NM_000264.5(PTCH1):c.2051A>G (p.Glu684Gly)
NM_000264.5(PTCH1):c.2061G>T (p.Val687=) rs1588574610
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter) rs1554695039
NM_000264.5(PTCH1):c.2064G>T (p.Gln688His)
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu) rs750970743
NM_000264.5(PTCH1):c.2070C>T (p.Val690=)
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
NM_000264.5(PTCH1):c.2081A>G (p.Gln694Arg)
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
NM_000264.5(PTCH1):c.2087_2088insGTC (p.Thr696_Leu697insSer)
NM_000264.5(PTCH1):c.2088C>A (p.Thr696=)
NM_000264.5(PTCH1):c.2088C>G (p.Thr696=)
NM_000264.5(PTCH1):c.2088C>T (p.Thr696=)
NM_000264.5(PTCH1):c.2089C>T (p.Leu697Phe)
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.2094C>T (p.Ser698=)
NM_000264.5(PTCH1):c.2096G>A (p.Cys699Tyr)
NM_000264.5(PTCH1):c.2100G>C (p.Gln700His)
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile) rs775235892
NM_000264.5(PTCH1):c.2104C>G (p.Pro702Ala)
NM_000264.5(PTCH1):c.2105C>T (p.Pro702Leu) rs368362152
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly) rs1182895378
NM_000264.5(PTCH1):c.2115C>A (p.Thr705=)
NM_000264.5(PTCH1):c.2115C>T (p.Thr705=)
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn) rs140497736
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=) rs1588574313
NM_000264.5(PTCH1):c.2125A>G (p.Arg709Gly)
NM_000264.5(PTCH1):c.2127G>A (p.Arg709=)
NM_000264.5(PTCH1):c.2136C>T (p.Leu712=)
NM_000264.5(PTCH1):c.2139C>G (p.Ser713=) rs143630307
NM_000264.5(PTCH1):c.2140C>T (p.Gln714Ter)
NM_000264.5(PTCH1):c.2142G>C (p.Gln714His)
NM_000264.5(PTCH1):c.2144T>G (p.Phe715Cys)
NM_000264.5(PTCH1):c.2144dup (p.Ser716fs)
NM_000264.5(PTCH1):c.2149G>T (p.Asp717Tyr)
NM_000264.5(PTCH1):c.2151C>A (p.Asp717Glu)
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr) rs2118032855
NM_000264.5(PTCH1):c.2153C>T (p.Ser718Phe)
NM_000264.5(PTCH1):c.2160C>T (p.Leu720=)
NM_000264.5(PTCH1):c.2166C>T (p.Cys722=)
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln) rs144501989
NM_000264.5(PTCH1):c.2175C>A (p.Pro725=)
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His) rs587780697
NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu) rs587780697
NM_000264.5(PTCH1):c.2178C>T (p.Pro726=)
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs) rs2118030407
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
NM_000264.5(PTCH1):c.2185A>G (p.Lys729Glu)
NM_000264.5(PTCH1):c.2188T>C (p.Trp730Arg)
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter) rs1131690992
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.2193A>G (p.Thr731=)
NM_000264.5(PTCH1):c.2194C>T (p.Leu732Phe)
NM_000264.5(PTCH1):c.2196C>A (p.Leu732=)
NM_000264.5(PTCH1):c.2196C>G (p.Leu732=)
NM_000264.5(PTCH1):c.2196C>T (p.Leu732=) rs1355356596
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs) rs1060502292
NM_000264.5(PTCH1):c.2198C>T (p.Ser733Leu)
NM_000264.5(PTCH1):c.2203T>C (p.Phe735Leu)
NM_000264.5(PTCH1):c.2210A>G (p.Glu737Gly)
NM_000264.5(PTCH1):c.2211G>C (p.Glu737Asp)
NM_000264.5(PTCH1):c.2213A>C (p.Lys738Thr)
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe) rs864622295
NM_000264.5(PTCH1):c.2220T>C (p.Tyr740=)
NM_000264.5(PTCH1):c.2224C>T (p.Pro742Ser) rs1588573727
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg) rs1185984575
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=) rs1009657162
NM_000264.5(PTCH1):c.2230C>T (p.Leu744Phe)
NM_000264.5(PTCH1):c.2233T>C (p.Leu745=) rs1840271123
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe) rs749283740
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2251-2A>G rs2117976305
NM_000264.5(PTCH1):c.2256G>A (p.Val752=) rs1060504536
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met) rs1588569635
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000264.5(PTCH1):c.2271T>C (p.Phe757=) rs1588569604
NM_000264.5(PTCH1):c.2272C>T (p.Leu758=) rs863224346
NM_000264.5(PTCH1):c.2274G>A (p.Leu758=)
NM_000264.5(PTCH1):c.2274G>T (p.Leu758=)
NM_000264.5(PTCH1):c.2275G>A (p.Gly759Ser) rs1588569587
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala) rs2117974684
NM_000264.5(PTCH1):c.2277C>A (p.Gly759=)
NM_000264.5(PTCH1):c.2281C>G (p.Leu761Val) rs1554694457
NM_000264.5(PTCH1):c.2283G>T (p.Leu761=)
NM_000264.5(PTCH1):c.2286G>A (p.Gly762=)
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=) rs2117974113
NM_000264.5(PTCH1):c.2290A>G (p.Ser764Gly)
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
NM_000264.5(PTCH1):c.2308C>A (p.Arg770=)
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2311G>A (p.Val771Met)
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg) rs2117971100
NM_000264.5(PTCH1):c.2322G>C (p.Gly774=) rs2117970840
NM_000264.5(PTCH1):c.2325G>C (p.Leu775=) rs765736670
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.2334G>T (p.Thr778=)
NM_000264.5(PTCH1):c.2335G>A (p.Asp779Asn)
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu) rs1388496324
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.2352A>T (p.Glu784Asp) rs1840099623
NM_000264.5(PTCH1):c.2354C>A (p.Thr785Asn)
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
NM_000264.5(PTCH1):c.2363A>G (p.Tyr788Cys)
NM_000264.5(PTCH1):c.2373T>C (p.Ile791=) rs2117966513
NM_000264.5(PTCH1):c.2376T>C (p.Ala792=) rs878853851
NM_000264.5(PTCH1):c.2378C>A (p.Ala793Glu)
NM_000264.5(PTCH1):c.2382A>G (p.Gln794=) rs2117965810
NM_000264.5(PTCH1):c.2384_2385delinsAT (p.Phe795Tyr) rs1588569089
NM_000264.5(PTCH1):c.2393T>A (p.Phe798Tyr)
NM_000264.5(PTCH1):c.2394T>C (p.Phe798=)
NM_000264.5(PTCH1):c.2399T>A (p.Phe800Tyr)
NM_000264.5(PTCH1):c.2400C>G (p.Phe800Leu)
NM_000264.5(PTCH1):c.2401T>A (p.Tyr801Asn)
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile) rs2117961342
NM_000264.5(PTCH1):c.2420C>A (p.Thr807Asn)
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu) rs1840089681
NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer) rs2117958655
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2445C>T (p.Ile815=)
NM_000264.5(PTCH1):c.2448G>A (p.Gln816=)
NM_000264.5(PTCH1):c.2450A>G (p.His817Arg) rs1564030723
NM_000264.5(PTCH1):c.2451C>T (p.His817=) rs780536108
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=) rs2117955057
NM_000264.5(PTCH1):c.2480G>A (p.Ser827Asn)
NM_000264.5(PTCH1):c.2480G>C (p.Ser827Thr)
NM_000264.5(PTCH1):c.2481T>A (p.Ser827Arg)
NM_000264.5(PTCH1):c.2487G>C (p.Val829=) rs774573762
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys) rs2117951860
NM_000264.5(PTCH1):c.2493T>C (p.Tyr831=)
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr) rs1060502269
NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr) rs1220749812
NM_000264.5(PTCH1):c.2514A>G (p.Lys838=) rs149134846
NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
NM_000264.5(PTCH1):c.2521C>T (p.Pro841Ser)
NM_000264.5(PTCH1):c.2527A>G (p.Met843Val)
NM_000264.5(PTCH1):c.2535G>A (p.Leu845=) rs1226541991
NM_000264.5(PTCH1):c.2537A>C (p.His846Pro)
NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs) rs863225467
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=) rs863224347
NM_000264.5(PTCH1):c.2549A>T (p.Asp850Val)
NM_000264.5(PTCH1):c.2556T>A (p.Leu852=)
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro) rs587778628
NM_000264.5(PTCH1):c.2560+1G>T
NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC rs863224348

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