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.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.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.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.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.2105_2106del (p.Pro702fs)
|
rs1840290349
|
|
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.2460C>A (p.Tyr820Ter)
|
rs766227557
|
|
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
|
|