NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)
|
rs1805156
|
0.00086
|
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.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.1848-17G>T
|
rs375623107
|
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.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.2437C>G (p.Pro813Ala)
|
rs45579032
|
0.00006
|
NM_000264.5(PTCH1):c.2560+11G>A
|
rs774494594
|
0.00006
|
NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met)
|
rs372219420
|
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.2184G>A (p.Thr728=)
|
rs201103723
|
0.00003
|
NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys)
|
rs78708791
|
0.00003
|
NM_000264.5(PTCH1):c.1729-5C>T
|
rs763030829
|
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.2043G>A (p.Pro681=)
|
rs745862347
|
0.00002
|
NM_000264.5(PTCH1):c.2067C>T (p.Pro689=)
|
rs758799508
|
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.1729-7C>T
|
rs188325835
|
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.1845A>G (p.Thr615=)
|
rs755882246
|
0.00001
|
NM_000264.5(PTCH1):c.1847+20T>A
|
rs754970528
|
0.00001
|
NM_000264.5(PTCH1):c.1848-12C>T
|
rs1235985632
|
0.00001
|
NM_000264.5(PTCH1):c.1848-13C>T
|
rs755868590
|
0.00001
|
NM_000264.5(PTCH1):c.1848-19_1848-18del
|
rs779136053
|
0.00001
|
NM_000264.5(PTCH1):c.1848-9T>G
|
rs1840326238
|
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.1917C>T (p.Tyr639=)
|
rs770506138
|
0.00001
|
NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)
|
rs375049109
|
0.00001
|
NM_000264.5(PTCH1):c.1992C>A (p.Leu664=)
|
rs1466845678
|
0.00001
|
NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met)
|
rs752043221
|
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.2022G>T (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.2063A>G (p.Gln688Arg)
|
rs751955563
|
0.00001
|
NM_000264.5(PTCH1):c.2085C>T (p.Asp695=)
|
rs1452372504
|
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.2172G>C (p.Glu724Asp)
|
rs747274181
|
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.2235G>A (p.Leu745=)
|
rs749283740
|
0.00001
|
NM_000264.5(PTCH1):c.2250+15C>T
|
rs768887056
|
0.00001
|
NM_000264.5(PTCH1):c.2250+17T>C
|
rs367972605
|
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.2313G>A (p.Val771=)
|
rs773304123
|
0.00001
|
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=)
|
rs1369922802
|
0.00001
|
NM_000264.5(PTCH1):c.2343A>G (p.Val781=)
|
rs746117249
|
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.2460C>T (p.Tyr820=)
|
rs766227557
|
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.2560+10C>T
|
rs779855404
|
0.00001
|
NM_000264.5(PTCH1):c.2560+20T>C
|
rs750223422
|
0.00001
|
NM_000264.5(PTCH1):c.1729-10C>T
|
rs2118100530
|
|
NM_000264.5(PTCH1):c.1729-11T>C
|
rs752605765
|
|
NM_000264.5(PTCH1):c.1729-11del
|
rs779000277
|
|
NM_000264.5(PTCH1):c.1729-14T>A
|
rs1416846970
|
|
NM_000264.5(PTCH1):c.1729-14T>G
|
|
|
NM_000264.5(PTCH1):c.1729-19A>G
|
|
|
NM_000264.5(PTCH1):c.1729-19A>T
|
rs2118101112
|
|
NM_000264.5(PTCH1):c.1729-8G>T
|
rs2118100362
|
|
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=)
|
rs765440424
|
|
NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala)
|
rs777030659
|
|
NM_000264.5(PTCH1):c.1746G>A (p.Val582=)
|
rs1588578518
|
|
NM_000264.5(PTCH1):c.1749C>T (p.Phe583=)
|
|
|
NM_000264.5(PTCH1):c.1758C>A (p.Ala586=)
|
rs2118096020
|
|
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
|
|
|
NM_000264.5(PTCH1):c.1773T>C (p.Ile591=)
|
rs2118094514
|
|
NM_000264.5(PTCH1):c.1788C>T (p.Leu596=)
|
rs2118093248
|
|
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
|
|
|
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln)
|
rs1382474804
|
|
NM_000264.5(PTCH1):c.1809C>G (p.Arg603=)
|
rs145690756
|
|
NM_000264.5(PTCH1):c.1812G>A (p.Glu604=)
|
rs1564035792
|
|
NM_000264.5(PTCH1):c.1815C>T (p.Asp605=)
|
rs1588578295
|
|
NM_000264.5(PTCH1):c.1818G>A (p.Arg606=)
|
|
|
NM_000264.5(PTCH1):c.1840T>G (p.Phe614Val)
|
rs1193948667
|
|
NM_000264.5(PTCH1):c.1842T>C (p.Phe614=)
|
rs2118088756
|
|
NM_000264.5(PTCH1):c.1847+16G>A
|
rs2118087400
|
|
NM_000264.5(PTCH1):c.1847+17C>T
|
rs1840397379
|
|
NM_000264.5(PTCH1):c.1847+19G>A
|
rs2118087215
|
|
NM_000264.5(PTCH1):c.1848-10C>T
|
|
|
NM_000264.5(PTCH1):c.1848-11C>G
|
rs2118063448
|
|
NM_000264.5(PTCH1):c.1848-19A>G
|
|
|
NM_000264.5(PTCH1):c.1848-7C>A
|
|
|
NM_000264.5(PTCH1):c.1848-7C>T
|
|
|
NM_000264.5(PTCH1):c.1875T>C (p.Val625=)
|
|
|
NM_000264.5(PTCH1):c.1878A>G (p.Glu626=)
|
|
|
NM_000264.5(PTCH1):c.1890C>T (p.Tyr630=)
|
rs2118058472
|
|
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.1906A>G (p.Asn636Asp)
|
rs1390308281
|
|
NM_000264.5(PTCH1):c.1908T>C (p.Asn636=)
|
rs538643667
|
|
NM_000264.5(PTCH1):c.1920C>T (p.Ser640=)
|
rs2118054074
|
|
NM_000264.5(PTCH1):c.1923C>A (p.Pro641=)
|
|
|
NM_000264.5(PTCH1):c.1923C>G (p.Pro641=)
|
|
|
NM_000264.5(PTCH1):c.1926A>G (p.Pro642=)
|
|
|
NM_000264.5(PTCH1):c.1932C>G (p.Pro644=)
|
rs1314908873
|
|
NM_000264.5(PTCH1):c.1932C>T (p.Pro644=)
|
rs1314908873
|
|
NM_000264.5(PTCH1):c.1938C>T (p.Ser646=)
|
rs2118052414
|
|
NM_000264.5(PTCH1):c.1953C>T (p.Ala651=)
|
|
|
NM_000264.5(PTCH1):c.1962G>A (p.Thr654=)
|
rs201544613
|
|
NM_000264.5(PTCH1):c.1962G>C (p.Thr654=)
|
rs201544613
|
|
NM_000264.5(PTCH1):c.1971C>T (p.Thr657=)
|
|
|
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)
|
rs1448553293
|
|
NM_000264.5(PTCH1):c.1983T>G (p.Thr661=)
|
rs201955746
|
|
NM_000264.5(PTCH1):c.1985T>C (p.Val662Ala)
|
|
|
NM_000264.5(PTCH1):c.1992C>T (p.Leu664=)
|
rs1466845678
|
|
NM_000264.5(PTCH1):c.1995C>G (p.Arg665=)
|
|
|
NM_000264.5(PTCH1):c.1995C>T (p.Arg665=)
|
rs1037533662
|
|
NM_000264.5(PTCH1):c.1998G>T (p.Thr666=)
|
rs369710438
|
|
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=)
|
rs1840303330
|
|
NM_000264.5(PTCH1):c.2013C>T (p.His671=)
|
rs2118045866
|
|
NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)
|
|
|
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>T (p.Tyr676=)
|
rs2118044447
|
|
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=)
|
rs2118044176
|
|
NM_000264.5(PTCH1):c.2037T>C (p.Ala679=)
|
|
|
NM_000264.5(PTCH1):c.2049C>G (p.Ser683=)
|
rs756242911
|
|
NM_000264.5(PTCH1):c.2061G>T (p.Val687=)
|
rs1588574610
|
|
NM_000264.5(PTCH1):c.2067C>A (p.Pro689=)
|
rs758799508
|
|
NM_000264.5(PTCH1):c.2079A>G (p.Thr693=)
|
|
|
NM_000264.5(PTCH1):c.2091C>T (p.Leu697=)
|
rs2118038595
|
|
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile)
|
rs775235892
|
|
NM_000264.5(PTCH1):c.2103C>T (p.Ser701=)
|
|
|
NM_000264.5(PTCH1):c.2109G>A (p.Glu703=)
|
|
|
NM_000264.5(PTCH1):c.2115C>A (p.Thr705=)
|
|
|
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=)
|
rs1588574313
|
|
NM_000264.5(PTCH1):c.2125A>C (p.Arg709=)
|
rs2118035695
|
|
NM_000264.5(PTCH1):c.2131C>T (p.Leu711=)
|
|
|
NM_000264.5(PTCH1):c.2145C>T (p.Phe715=)
|
rs1300358041
|
|
NM_000264.5(PTCH1):c.2151C>T (p.Asp717=)
|
|
|
NM_000264.5(PTCH1):c.2154C>T (p.Ser718=)
|
rs2118032734
|
|
NM_000264.5(PTCH1):c.2160C>G (p.Leu720=)
|
|
|
NM_000264.5(PTCH1):c.2163C>T (p.His721=)
|
rs2118031842
|
|
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
|
|
|
NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu)
|
rs587780697
|
|
NM_000264.5(PTCH1):c.2178C>G (p.Pro726=)
|
rs1588573960
|
|
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
|
|
|
NM_000264.5(PTCH1):c.2196C>T (p.Leu732=)
|
rs1355356596
|
|
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe)
|
rs864622295
|
|
NM_000264.5(PTCH1):c.2220T>C (p.Tyr740=)
|
|
|
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=)
|
rs1009657162
|
|
NM_000264.5(PTCH1):c.2233T>C (p.Leu745=)
|
rs1840271123
|
|
NM_000264.5(PTCH1):c.2238A>G (p.Lys746=)
|
|
|
NM_000264.5(PTCH1):c.2250+19A>T
|
|
|
NM_000264.5(PTCH1):c.2250+9C>T
|
rs1840268803
|
|
NM_000264.5(PTCH1):c.2251-12C>T
|
|
|
NM_000264.5(PTCH1):c.2251-15C>A
|
|
|
NM_000264.5(PTCH1):c.2251-15C>T
|
|
|
NM_000264.5(PTCH1):c.2251-16G>A
|
|
|
NM_000264.5(PTCH1):c.2251-17T>C
|
rs2117977225
|
|
NM_000264.5(PTCH1):c.2251-18G>A
|
rs777219377
|
|
NM_000264.5(PTCH1):c.2251-18G>T
|
rs777219377
|
|
NM_000264.5(PTCH1):c.2251-4C>G
|
|
|
NM_000264.5(PTCH1):c.2251-7G>C
|
rs1459536795
|
|
NM_000264.5(PTCH1):c.2251-7del
|
rs2117976757
|
|
NM_000264.5(PTCH1):c.2251-8del
|
rs2117976871
|
|
NM_000264.5(PTCH1):c.2253A>C (p.Val751=)
|
|
|
NM_000264.5(PTCH1):c.2256G>A (p.Val752=)
|
rs1060504536
|
|
NM_000264.5(PTCH1):c.2262C>T (p.Ile754=)
|
|
|
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>T (p.Leu758=)
|
|
|
NM_000264.5(PTCH1):c.2277C>T (p.Gly759=)
|
|
|
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=)
|
rs2117974113
|
|
NM_000264.5(PTCH1):c.2286G>T (p.Gly762=)
|
|
|
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.2329C>G (p.Leu777Val)
|
|
|
NM_000264.5(PTCH1):c.2329C>T (p.Leu777Phe)
|
|
|
NM_000264.5(PTCH1):c.2337C>T (p.Asp779=)
|
rs1840103199
|
|
NM_000264.5(PTCH1):c.2340T>C (p.Ile780=)
|
rs1367566469
|
|
NM_000264.5(PTCH1):c.2346T>C (p.Pro782=)
|
rs2117968482
|
|
NM_000264.5(PTCH1):c.2362T>G (p.Tyr788Asp)
|
rs1454135593
|
|
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr)
|
rs1564030910
|
|
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.2382A>G (p.Gln794=)
|
rs2117965810
|
|
NM_000264.5(PTCH1):c.2397T>C (p.Ser799=)
|
rs1588568996
|
|
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
|
|
|
NM_000264.5(PTCH1):c.2421C>A (p.Thr807=)
|
|
|
NM_000264.5(PTCH1):c.2439G>T (p.Pro813=)
|
rs151266988
|
|
NM_000264.5(PTCH1):c.2445C>A (p.Ile815=)
|
rs1351609452
|
|
NM_000264.5(PTCH1):c.2450A>G (p.His817Arg)
|
rs1564030723
|
|
NM_000264.5(PTCH1):c.2463C>T (p.Asp821=)
|
rs2117956030
|
|
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=)
|
rs2117955057
|
|
NM_000264.5(PTCH1):c.2487G>C (p.Val829=)
|
rs774573762
|
|
NM_000264.5(PTCH1):c.2490G>A (p.Lys830=)
|
rs2117952150
|
|
NM_000264.5(PTCH1):c.2494G>A (p.Val832Ile)
|
rs1253407915
|
|
NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)
|
|
|
NM_000264.5(PTCH1):c.2511C>T (p.Asn837=)
|
rs1588568559
|
|
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.2535G>A (p.Leu845=)
|
rs1226541991
|
|
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys)
|
rs1352235060
|
|
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)
|
rs863224347
|
|
NM_000264.5(PTCH1):c.2544C>T (p.Phe848=)
|
|
|
NM_000264.5(PTCH1):c.2560+12T>A
|
|
|
NM_000264.5(PTCH1):c.2560+15G>A
|
rs1840072057
|
|
NM_000264.5(PTCH1):c.2560+15_2560+16insCA
|
|
|
NM_000264.5(PTCH1):c.2560+19C>T
|
|
|
NM_000264.5(PTCH1):c.2560+20T>G
|
rs750223422
|
|
NM_000264.5(PTCH1):c.2560+7C>A
|
rs75576651
|
|
NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC
|
rs863224348
|
|
NM_000264.5(PTCH1):c.2560+9G>T
|
|
|
NM_000264.5(PTCH1):c.2560+9_2560+10delinsCT
|
rs863224349
|
|