NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu)
|
rs1239869539
|
0.00002
|
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.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.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.2219A>G (p.Tyr740Cys)
|
rs1156974460
|
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.2558A>G (p.Gln853Arg)
|
rs587778628
|
0.00001
|
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr)
|
rs1554695631
|
|
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.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.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.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.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.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.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.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.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.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.2011C>G (p.His671Asp)
|
rs376678753
|
|
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
|
|
|
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.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.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.2153C>A (p.Ser718Tyr)
|
rs2118032855
|
|
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.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.2240C>A (p.Pro747Gln)
|
rs1840269986
|
|
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
|
|
|
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.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.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.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.2360A>G (p.Glu787Gly)
|
rs1588569206
|
|
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His)
|
rs1840096887
|
|
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.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.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.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.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.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.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.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
|
|