NM_000264.5(PTCH1):c.2560+9G>C
|
rs2066829
|
0.44128
|
NM_000264.5(PTCH1):c.1847+187C>T
|
rs28702657
|
0.24126
|
NM_000264.5(PTCH1):c.2561-2115T>G
|
rs28494679
|
0.12337
|
NM_000264.5(PTCH1):c.2561-1786C>T
|
rs867452
|
0.12332
|
NM_000264.5(PTCH1):c.2250+126A>G
|
rs28711421
|
0.11595
|
NM_000264.5(PTCH1):c.2561-2027G>A
|
rs28493225
|
0.11236
|
NM_000264.5(PTCH1):c.2250+25T>C
|
rs16909898
|
0.10561
|
NM_000264.5(PTCH1):c.2560+134T>A
|
rs45628039
|
0.03416
|
NM_000264.5(PTCH1):c.2560+243G>A
|
rs56360859
|
0.01147
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_000264.5(PTCH1):c.2561-1987G>A
|
rs73542177
|
0.01073
|
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.2560+108G>A
|
rs55876424
|
0.00466
|
NM_000264.5(PTCH1):c.1847+260G>A
|
rs141619461
|
0.00299
|
NM_000264.5(PTCH1):c.2560+215G>A
|
rs652525
|
0.00252
|
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.1847+14C>T
|
rs202007968
|
0.00053
|
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.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.2170G>A (p.Glu724Lys)
|
rs144501989
|
0.00008
|
NM_000264.5(PTCH1):c.2124A>G (p.Thr708=)
|
rs147204440
|
0.00007
|
NM_000264.5(PTCH1):c.2216A>T (p.His739Leu)
|
rs202033167
|
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.2560+11G>A
|
rs774494594
|
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.2250+46C>T
|
rs576611266
|
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.1729-7C>T
|
rs188325835
|
0.00001
|
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.1762G>A (p.Val588Ile)
|
rs1472804824
|
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.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.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.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.1917C>T (p.Tyr639=)
|
rs770506138
|
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.1954C>T (p.His652Tyr)
|
rs1035631674
|
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.1973T>C (p.Met658Thr)
|
rs1588575145
|
0.00001
|
NM_000264.5(PTCH1):c.1975C>G (p.Gln659Glu)
|
rs1268572514
|
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.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.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.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.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.2343A>G (p.Val781=)
|
rs746117249
|
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.2443A>G (p.Ile815Val)
|
rs375257965
|
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.2560+20T>C
|
rs750223422
|
0.00001
|
NM_000264.5(PTCH1):c.2560+6A>G
|
rs1414242958
|
0.00001
|
GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1
|
|
|
NC_000009.12:g.(?_95467116)_(95469931_?)del
|
|
|
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.1729-11dup
|
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.1729-9T>C
|
rs1588578652
|
|
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.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del)
|
rs1588578536
|
|
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.1741G>C (p.Val581Leu)
|
|
|
NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala)
|
rs777030659
|
|
NM_000264.5(PTCH1):c.1742T>G (p.Val581Gly)
|
|
|
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
|
|
|
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.1749C>T (p.Phe583=)
|
|
|
NM_000264.5(PTCH1):c.1755_1757delinsGG (p.Phe585fs)
|
rs1554695612
|
|
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.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.1764del (p.Leu589fs)
|
rs1564035949
|
|
NM_000264.5(PTCH1):c.1767G>A (p.Leu589=)
|
|
|
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe)
|
rs2118095021
|
|
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
|
|
|
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
|
|
|
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser)
|
rs2118094624
|
|
NM_000264.5(PTCH1):c.1773T>C (p.Ile591=)
|
rs2118094514
|
|
NM_000264.5(PTCH1):c.1774T>C (p.Phe592Leu)
|
|
|
NM_000264.5(PTCH1):c.1775T>C (p.Phe592Ser)
|
|
|
NM_000264.5(PTCH1):c.1776dup (p.Pro593fs)
|
|
|
NM_000264.5(PTCH1):c.1778C>G (p.Pro593Arg)
|
rs2118094139
|
|
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser)
|
rs2118093961
|
|
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
|
|
|
NM_000264.5(PTCH1):c.1782A>G (p.Ala594=)
|
|
|
NM_000264.5(PTCH1):c.1788C>T (p.Leu596=)
|
rs2118093248
|
|
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
|
|
|
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
|
|
|
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys)
|
rs2118092432
|
|
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.1811A>G (p.Glu604Gly)
|
rs756951491
|
|
NM_000264.5(PTCH1):c.1812G>A (p.Glu604=)
|
rs1564035792
|
|
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
|
|
|
NM_000264.5(PTCH1):c.1815C>T (p.Asp605=)
|
rs1588578295
|
|
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.1822C>G (p.Leu608Val)
|
rs1840400624
|
|
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>C (p.Phe614Leu)
|
rs1193948667
|
|
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.1842del (p.Phe614fs)
|
rs1131690991
|
|
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly)
|
rs1131690983
|
|
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.1847+1G>A
|
rs1840398430
|
|
NM_000264.5(PTCH1):c.1847+1G>T
|
|
|
NM_000264.5(PTCH1):c.1847+2T>G
|
rs2118088248
|
|
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.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.1848-3C>G
|
rs2118062649
|
|
NM_000264.5(PTCH1):c.1848-7C>A
|
|
|
NM_000264.5(PTCH1):c.1848-7C>T
|
|
|
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
|
|
|
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg)
|
rs2118062260
|
|
NM_000264.5(PTCH1):c.1853G>C (p.Cys618Ser)
|
|
|
NM_000264.5(PTCH1):c.1862G>A (p.Arg621Lys)
|
rs751536947
|
|
NM_000264.5(PTCH1):c.1863_1864del (p.Arg621fs)
|
rs2118060990
|
|
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.1875T>C (p.Val625=)
|
|
|
NM_000264.5(PTCH1):c.1878A>G (p.Glu626=)
|
|
|
NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)
|
rs1060502274
|
|
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000264.5(PTCH1):c.1885del (p.Ala629fs)
|
rs1554695251
|
|
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser)
|
rs1840320961
|
|
NM_000264.5(PTCH1):c.1890C>T (p.Tyr630=)
|
rs2118058472
|
|
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
|
|
|
NM_000264.5(PTCH1):c.1893_1902del (p.Asp632fs)
|
rs1554695233
|
|
NM_000264.5(PTCH1):c.1894del (p.Asp632fs)
|
|
|
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.1900_1907del (p.His634fs)
|
|
|
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln)
|
rs761015917
|
|
NM_000264.5(PTCH1):c.1902del (p.His634fs)
|
rs1840319154
|
|
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn)
|
rs372555269
|
|
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
|
|
|
NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr)
|
rs372555269
|
|
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala)
|
rs200321717
|
|
NM_000264.5(PTCH1):c.1904A>G (p.Asp635Gly)
|
|
|
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.1910C>A (p.Thr637Asn)
|
|
|
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
|
|
|
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
|
|
|
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly)
|
rs1840315398
|
|
NM_000264.5(PTCH1):c.1919G>T (p.Ser640Ile)
|
|
|
NM_000264.5(PTCH1):c.1920C>T (p.Ser640=)
|
rs2118054074
|
|
NM_000264.5(PTCH1):c.1921C>T (p.Pro641Ser)
|
|
|
NM_000264.5(PTCH1):c.1923C>A (p.Pro641=)
|
|
|
NM_000264.5(PTCH1):c.1923C>G (p.Pro641=)
|
|
|
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.1926A>G (p.Pro642=)
|
|
|
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.1932C>T (p.Pro644=)
|
rs1314908873
|
|
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly)
|
rs1588575341
|
|
NM_000264.5(PTCH1):c.1938C>A (p.Ser646Arg)
|
|
|
NM_000264.5(PTCH1):c.1938C>T (p.Ser646=)
|
rs2118052414
|
|
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys)
|
rs2118052357
|
|
NM_000264.5(PTCH1):c.1940G>C (p.Ser647Thr)
|
|
|
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.1944C>G (p.His648Gln)
|
|
|
NM_000264.5(PTCH1):c.1944C>T (p.His648=)
|
|
|
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile)
|
rs2118051663
|
|
NM_000264.5(PTCH1):c.1953C>T (p.Ala651=)
|
|
|
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val)
|
rs1554695145
|
|
NM_000264.5(PTCH1):c.1960A>T (p.Thr654Ser)
|
rs2118050394
|
|
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.1962G>T (p.Thr654=)
|
rs201544613
|
|
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.1971C>T (p.Thr657=)
|
|
|
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)
|
rs1448553293
|
|
NM_000264.5(PTCH1):c.1975C>T (p.Gln659Ter)
|
|
|
NM_000264.5(PTCH1):c.1976A>G (p.Gln659Arg)
|
|
|
NM_000264.5(PTCH1):c.1977G>A (p.Gln659=)
|
rs1588575126
|
|
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr)
|
rs2118048874
|
|
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
|
|
|
NM_000264.5(PTCH1):c.1983T>G (p.Thr661=)
|
rs201955746
|
|
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile)
|
rs1332668908
|
|
NM_000264.5(PTCH1):c.1984G>T (p.Val662Phe)
|
|
|
NM_000264.5(PTCH1):c.1985T>C (p.Val662Ala)
|
|
|
NM_000264.5(PTCH1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val)
|
rs1564033840
|
|
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs)
|
rs1588574984
|
|
NM_000264.5(PTCH1):c.1992C>T (p.Leu664=)
|
rs1466845678
|
|
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
|
|
|
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.1999G>T (p.Glu667Ter)
|
rs1588574943
|
|
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala)
|
rs2118046932
|
|
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
|
|
|
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=)
|
rs1840303330
|
|
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.2007C>T (p.Asp669=)
|
|
|
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu)
|
rs2118046186
|
|
NM_000264.5(PTCH1):c.2010_2011dup (p.His671fs)
|
rs1554695110
|
|
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp)
|
rs376678753
|
|
NM_000264.5(PTCH1):c.2011C>T (p.His671Tyr)
|
|
|
NM_000264.5(PTCH1):c.2011dup (p.His671fs)
|
rs1554695110
|
|
NM_000264.5(PTCH1):c.2013C>T (p.His671=)
|
rs2118045866
|
|
NM_000264.5(PTCH1):c.2014A>G (p.Thr672Ala)
|
|
|
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
|
|
|
NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)
|
|
|
NM_000264.5(PTCH1):c.2019C>A (p.His673Gln)
|
|
|
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
|
|
|
NM_000264.5(PTCH1):c.2021T>G (p.Val674Gly)
|
|
|
NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs)
|
rs2118045103
|
|
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His)
|
rs2118044840
|
|
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.2028C>T (p.Tyr676=)
|
rs2118044447
|
|
NM_000264.5(PTCH1):c.2031C>A (p.Thr677=)
|
|
|
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=)
|
rs2118044176
|
|
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
|
|
|
NM_000264.5(PTCH1):c.2036C>G (p.Ala679Gly)
|
|
|
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
|
|
|
NM_000264.5(PTCH1):c.2037T>C (p.Ala679=)
|
|
|
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.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.2050G>T (p.Glu684Ter)
|
|
|
NM_000264.5(PTCH1):c.2051A>G (p.Glu684Gly)
|
|
|
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys)
|
rs1373585633
|
|
NM_000264.5(PTCH1):c.2057C>T (p.Ser686Phe)
|
|
|
NM_000264.5(PTCH1):c.2057_2058dup (p.Val687fs)
|
rs2118041703
|
|
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
|
|
|
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
|
|
|
NM_000264.5(PTCH1):c.2059del (p.Val687fs)
|
|
|
NM_000264.5(PTCH1):c.2060del (p.Val687fs)
|
|
|
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.2067C>A (p.Pro689=)
|
rs758799508
|
|
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu)
|
rs750970743
|
|
NM_000264.5(PTCH1):c.2068G>T (p.Val690Phe)
|
|
|
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala)
|
rs1840294655
|
|
NM_000264.5(PTCH1):c.2070C>T (p.Val690=)
|
|
|
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile)
|
rs1840294159
|
|
NM_000264.5(PTCH1):c.2072_2073del (p.Thr691fs)
|
rs1064793698
|
|
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
|
|
|
NM_000264.5(PTCH1):c.2079A>G (p.Thr693=)
|
|
|
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
|
|
|
NM_000264.5(PTCH1):c.2080C>T (p.Gln694Ter)
|
rs1840292996
|
|
NM_000264.5(PTCH1):c.2081A>G (p.Gln694Arg)
|
|
|
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.2086dup (p.Thr696fs)
|
|
|
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>C (p.Leu697Pro)
|
|
|
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg)
|
rs199892130
|
|
NM_000264.5(PTCH1):c.2091C>T (p.Leu697=)
|
rs2118038595
|
|
NM_000264.5(PTCH1):c.2094C>T (p.Ser698=)
|
|
|
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
|
|
|
NM_000264.5(PTCH1):c.2096G>A (p.Cys699Tyr)
|
|
|
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser)
|
rs547829353
|
|
NM_000264.5(PTCH1):c.2100G>C (p.Gln700His)
|
|
|
NM_000264.5(PTCH1):c.2102G>A (p.Ser701Asn)
|
|
|
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile)
|
rs775235892
|
|
NM_000264.5(PTCH1):c.2103C>T (p.Ser701=)
|
|
|
NM_000264.5(PTCH1):c.2104C>G (p.Pro702Ala)
|
|
|
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser)
|
rs2118037487
|
|
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.2107G>A (p.Glu703Lys)
|
rs2118037130
|
|
NM_000264.5(PTCH1):c.2107G>T (p.Glu703Ter)
|
rs2118037130
|
|
NM_000264.5(PTCH1):c.2109G>A (p.Glu703=)
|
|
|
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.2113_2151del (p.Thr705_Asp717del)
|
rs2118033163
|
|
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
|
|
|
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.2117_2122del (p.Ser706_Ser707del)
|
|
|
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys)
|
rs1840288367
|
|
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=)
|
rs1588574313
|
|
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
|
|
|
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
|
|
|
NM_000264.5(PTCH1):c.2125A>C (p.Arg709=)
|
rs2118035695
|
|
NM_000264.5(PTCH1):c.2125A>G (p.Arg709Gly)
|
|
|
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys)
|
rs1840287540
|
|
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
|
|
|
NM_000264.5(PTCH1):c.2127G>A (p.Arg709=)
|
|
|
NM_000264.5(PTCH1):c.2131C>T (p.Leu711=)
|
|
|
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.2135dup (p.Ser713fs)
|
rs1554694966
|
|
NM_000264.5(PTCH1):c.2136C>T (p.Leu712=)
|
|
|
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
|
|
|
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys)
|
rs1554694963
|
|
NM_000264.5(PTCH1):c.2138C>T (p.Ser713Phe)
|
|
|
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.2144del (p.Phe715fs)
|
rs2118033907
|
|
NM_000264.5(PTCH1):c.2144dup (p.Ser716fs)
|
|
|
NM_000264.5(PTCH1):c.2145C>T (p.Phe715=)
|
rs1300358041
|
|
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro)
|
rs1564033174
|
|
NM_000264.5(PTCH1):c.2148dup (p.Asp717fs)
|
rs1840283586
|
|
NM_000264.5(PTCH1):c.2149G>T (p.Asp717Tyr)
|
|
|
NM_000264.5(PTCH1):c.2151C>A (p.Asp717Glu)
|
|
|
NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)
|
|
|
NM_000264.5(PTCH1):c.2151C>T (p.Asp717=)
|
|
|
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr)
|
rs2118032855
|
|
NM_000264.5(PTCH1):c.2153C>T (p.Ser718Phe)
|
|
|
NM_000264.5(PTCH1):c.2154C>T (p.Ser718=)
|
rs2118032734
|
|
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.2160C>G (p.Leu720=)
|
|
|
NM_000264.5(PTCH1):c.2160C>T (p.Leu720=)
|
|
|
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
|
|
|
NM_000264.5(PTCH1):c.2163C>T (p.His721=)
|
rs2118031842
|
|
NM_000264.5(PTCH1):c.2163del (p.Cys722fs)
|
rs1840281213
|
|
NM_000264.5(PTCH1):c.2166C>T (p.Cys722=)
|
|
|
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg)
|
rs1554694943
|
|
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
|
|
|
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln)
|
rs144501989
|
|
NM_000264.5(PTCH1):c.2172dup (p.Pro725fs)
|
rs2118031073
|
|
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His)
|
rs963297092
|
|
NM_000264.5(PTCH1):c.2175C>A (p.Pro725=)
|
|
|
NM_000264.5(PTCH1):c.2175C>G (p.Pro725=)
|
rs1588574006
|
|
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>G (p.Pro726=)
|
rs1588573960
|
|
NM_000264.5(PTCH1):c.2178C>T (p.Pro726=)
|
|
|
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs)
|
rs2118030407
|
|
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.2179del (p.Cys727fs)
|
rs1840277125
|
|
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
|
|
|
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
|
|
|
NM_000264.5(PTCH1):c.2183_2189del (p.Thr728fs)
|
|
|
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.2197T>C (p.Ser733Pro)
|
rs2118028468
|
|
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs)
|
rs1060502292
|
|
NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter)
|
rs1311804361
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
NM_000264.5(PTCH1):c.2198C>T (p.Ser733Leu)
|
|
|
NM_000264.5(PTCH1):c.2199_2203del (p.Ser734fs)
|
rs2118027698
|
|
NM_000264.5(PTCH1):c.2203T>C (p.Phe735Leu)
|
|
|
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr)
|
rs2118027491
|
|
NM_000264.5(PTCH1):c.2204_2205del (p.Phe735fs)
|
rs2118027397
|
|
NM_000264.5(PTCH1):c.2210A>G (p.Glu737Gly)
|
|
|
NM_000264.5(PTCH1):c.2211G>C (p.Glu737Asp)
|
|
|
NM_000264.5(PTCH1):c.2212A>T (p.Lys738Ter)
|
rs2118026370
|
|
NM_000264.5(PTCH1):c.2213A>C (p.Lys738Thr)
|
|
|
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe)
|
rs864622295
|
|
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
|
|
|
NM_000264.5(PTCH1):c.2220T>A (p.Tyr740Ter)
|
|
|
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.2225C>T (p.Pro742Leu)
|
rs1185984575
|
|
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu)
|
rs1840271655
|
|
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=)
|
rs1009657162
|
|
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
|
|
|
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>G (p.Lys746=)
|
|
|
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn)
|
rs776817244
|
|
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
|
|
|
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln)
|
rs1840269986
|
|
NM_000264.5(PTCH1):c.2244del (p.Ala749fs)
|
rs1564032829
|
|
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
|
|
|
NM_000264.5(PTCH1):c.2250+108del
|
rs35352942
|
|
NM_000264.5(PTCH1):c.2250+19A>T
|
|
|
NM_000264.5(PTCH1):c.2250+1G>T
|
|
|
NM_000264.5(PTCH1):c.2250+4_2250+5dup
|
|
|
NM_000264.5(PTCH1):c.2250+6C>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.2251-1G>A
|
|
|
NM_000264.5(PTCH1):c.2251-27_2251-1del
|
|
|
NM_000264.5(PTCH1):c.2251-28_2276del
|
rs1564031259
|
|
NM_000264.5(PTCH1):c.2251-2A>C
|
rs2117976305
|
|
NM_000264.5(PTCH1):c.2251-2A>G
|
rs2117976305
|
|
NM_000264.5(PTCH1):c.2251-3C>G
|
rs1588569651
|
|
NM_000264.5(PTCH1):c.2251-4C>G
|
|
|
NM_000264.5(PTCH1):c.2251-7G>A
|
|
|
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.2254G>A (p.Val752Met)
|
rs2117976199
|
|
NM_000264.5(PTCH1):c.2256G>A (p.Val752=)
|
rs1060504536
|
|
NM_000264.5(PTCH1):c.2256_2259del (p.Val753fs)
|
rs1840114155
|
|
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.2262C>T (p.Ile754=)
|
|
|
NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs)
|
rs1840113211
|
|
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000264.5(PTCH1):c.2266_2272dup (p.Leu758fs)
|
rs2117975028
|
|
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.2277C>T (p.Gly759=)
|
|
|
NM_000264.5(PTCH1):c.2281C>G (p.Leu761Val)
|
rs1554694457
|
|
NM_000264.5(PTCH1):c.2281C>T (p.Leu761=)
|
rs1554694457
|
|
NM_000264.5(PTCH1):c.2283G>T (p.Leu761=)
|
|
|
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu)
|
rs1840110120
|
|
NM_000264.5(PTCH1):c.2286G>A (p.Gly762=)
|
|
|
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=)
|
rs2117974113
|
|
NM_000264.5(PTCH1):c.2286G>T (p.Gly762=)
|
|
|
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
|
|
|
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile)
|
rs544963328
|
|
NM_000264.5(PTCH1):c.2287del (p.Val763fs)
|
|
|
NM_000264.5(PTCH1):c.2287dup (p.Val763fs)
|
rs1840109796
|
|
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
|
|
|
NM_000264.5(PTCH1):c.2290A>G (p.Ser764Gly)
|
|
|
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
|
|
|
NM_000264.5(PTCH1):c.2296del (p.Tyr766fs)
|
rs2117973287
|
|
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser)
|
rs878853850
|
|
NM_000264.5(PTCH1):c.2305_2319del (p.Thr769_Asp773del)
|
|
|
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.2308del (p.Arg770fs)
|
|
|
NM_000264.5(PTCH1):c.2311G>A (p.Val771Met)
|
|
|
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.2322G>C (p.Gly774=)
|
rs2117970840
|
|
NM_000264.5(PTCH1):c.2322dup (p.Leu775fs)
|
rs2117970934
|
|
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
|
|
|
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.2329C>G (p.Leu777Val)
|
|
|
NM_000264.5(PTCH1):c.2329C>T (p.Leu777Phe)
|
|
|
NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)
|
rs869025270
|
|
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala)
|
rs869025270
|
|
NM_000264.5(PTCH1):c.2332dup (p.Thr778fs)
|
rs2117970002
|
|
NM_000264.5(PTCH1):c.2333C>A (p.Thr778Lys)
|
|
|
NM_000264.5(PTCH1):c.2334G>T (p.Thr778=)
|
|
|
NM_000264.5(PTCH1):c.2335G>A (p.Asp779Asn)
|
|
|
NM_000264.5(PTCH1):c.2337C>T (p.Asp779=)
|
rs1840103199
|
|
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.2340T>C (p.Ile780=)
|
rs1367566469
|
|
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
|
|
|
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala)
|
rs2117968922
|
|
NM_000264.5(PTCH1):c.2342dup (p.Pro782fs)
|
rs1060502294
|
|
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
|
|
|
NM_000264.5(PTCH1):c.2346T>C (p.Pro782=)
|
rs2117968482
|
|
NM_000264.5(PTCH1):c.2346del (p.Arg783fs)
|
rs1840101155
|
|
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.2354C>A (p.Thr785Asn)
|
|
|
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.2359G>T (p.Glu787Ter)
|
rs1840098608
|
|
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly)
|
rs1588569206
|
|
NM_000264.5(PTCH1):c.2362T>G (p.Tyr788Asp)
|
rs1454135593
|
|
NM_000264.5(PTCH1):c.2363A>G (p.Tyr788Cys)
|
|
|
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.2369_2370del (p.Phe790fs)
|
rs2117966753
|
|
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu)
|
rs1060502300
|
|
NM_000264.5(PTCH1):c.2370del (p.Phe790fs)
|
rs2117966753
|
|
NM_000264.5(PTCH1):c.2370dup (p.Ile791fs)
|
rs2117966753
|
|
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr)
|
rs1564030910
|
|
NM_000264.5(PTCH1):c.2372_2373dup (p.Ala792fs)
|
|
|
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.2377G>A (p.Ala793Thr)
|
rs1554694390
|
|
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro)
|
rs1554694390
|
|
NM_000264.5(PTCH1):c.2378C>A (p.Ala793Glu)
|
|
|
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter)
|
rs1840094606
|
|
NM_000264.5(PTCH1):c.2382A>G (p.Gln794=)
|
rs2117965810
|
|
NM_000264.5(PTCH1):c.2382del (p.Gln794fs)
|
rs2117965922
|
|
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
|
|
|
NM_000264.5(PTCH1):c.2384_2385delinsAT (p.Phe795Tyr)
|
rs1588569089
|
|
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
|
|
|
NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter)
|
rs778260156
|
|
NM_000264.5(PTCH1):c.2393T>A (p.Phe798Tyr)
|
|
|
NM_000264.5(PTCH1):c.2394T>C (p.Phe798=)
|
|
|
NM_000264.5(PTCH1):c.2395T>G (p.Ser799Ala)
|
|
|
NM_000264.5(PTCH1):c.2397T>C (p.Ser799=)
|
rs1588568996
|
|
NM_000264.5(PTCH1):c.2399T>A (p.Phe800Tyr)
|
|
|
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu)
|
rs1840091372
|
|
NM_000264.5(PTCH1):c.2400C>G (p.Phe800Leu)
|
|
|
NM_000264.5(PTCH1):c.2401T>A (p.Tyr801Asn)
|
|
|
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
|
|
|
NM_000264.5(PTCH1):c.2403C>A (p.Tyr801Ter)
|
|
|
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
|
|
|
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser)
|
rs1840091155
|
|
NM_000264.5(PTCH1):c.2407_2408del (p.Met803fs)
|
|
|
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr)
|
rs1554694376
|
|
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
|
|
|
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)
|
rs1554694372
|
|
NM_000264.5(PTCH1):c.2414T>A (p.Ile805Lys)
|
|
|
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile)
|
rs2117961342
|
|
NM_000264.5(PTCH1):c.2416_2419dup (p.Thr807fs)
|
|
|
NM_000264.5(PTCH1):c.2417_2418delinsGGACT (p.Val806delinsGlyThr)
|
rs2117961134
|
|
NM_000264.5(PTCH1):c.2417_2424dup (p.Lys809fs)
|
rs2117960287
|
|
NM_000264.5(PTCH1):c.2420C>A (p.Thr807Asn)
|
|
|
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile)
|
rs1840089871
|
|
NM_000264.5(PTCH1):c.2421C>A (p.Thr807=)
|
|
|
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.2435_2438del (p.Asp811_Tyr812insTer)
|
rs2117958655
|
|
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
|
|
|
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
|
|
|
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)
|
rs1588568813
|
|
NM_000264.5(PTCH1):c.2439G>T (p.Pro813=)
|
rs151266988
|
|
NM_000264.5(PTCH1):c.2444_2454del (p.Ile815fs)
|
rs2117956624
|
|
NM_000264.5(PTCH1):c.2445C>A (p.Ile815=)
|
rs1351609452
|
|
NM_000264.5(PTCH1):c.2445C>T (p.Ile815=)
|
|
|
NM_000264.5(PTCH1):c.2446C>T (p.Gln816Ter)
|
|
|
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg)
|
rs1564030731
|
|
NM_000264.5(PTCH1):c.2448G>A (p.Gln816=)
|
|
|
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro)
|
rs1564030723
|
|
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.2453T>A (p.Leu818Ter)
|
|
|
NM_000264.5(PTCH1):c.2453T>G (p.Leu818Ter)
|
rs1131691630
|
|
NM_000264.5(PTCH1):c.2454dup (p.Leu819fs)
|
|
|
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
|
|
|
NM_000264.5(PTCH1):c.2460C>A (p.Tyr820Ter)
|
rs766227557
|
|
NM_000264.5(PTCH1):c.2463C>T (p.Asp821=)
|
rs2117956030
|
|
NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)
|
|
|
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
|
|
|
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
|
|
|
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=)
|
rs2117955057
|
|
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser)
|
rs1174748645
|
|
NM_000264.5(PTCH1):c.2477del (p.Phe826fs)
|
rs2117954271
|
|
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
|
|
|
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.2484del (p.Asn828fs)
|
rs2117953276
|
|
NM_000264.5(PTCH1):c.2485G>T (p.Val829Leu)
|
rs201125580
|
|
NM_000264.5(PTCH1):c.2487G>C (p.Val829=)
|
rs774573762
|
|
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
|
|
|
NM_000264.5(PTCH1):c.2490G>A (p.Lys830=)
|
rs2117952150
|
|
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys)
|
rs2117951860
|
|
NM_000264.5(PTCH1):c.2493T>A (p.Tyr831Ter)
|
rs2117951765
|
|
NM_000264.5(PTCH1):c.2493T>C (p.Tyr831=)
|
|
|
NM_000264.5(PTCH1):c.2494G>A (p.Val832Ile)
|
rs1253407915
|
|
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)
|
rs786204167
|
|
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.2500T>C (p.Leu834=)
|
|
|
NM_000264.5(PTCH1):c.2500T>G (p.Leu834Val)
|
rs1840080865
|
|
NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter)
|
rs1588568595
|
|
NM_000264.5(PTCH1):c.2506G>T (p.Glu836Ter)
|
rs78708791
|
|
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys)
|
rs1588568559
|
|
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
|
|
|
NM_000264.5(PTCH1):c.2511C>T (p.Asn837=)
|
rs1588568559
|
|
NM_000264.5(PTCH1):c.2511del (p.Asn837fs)
|
rs2117949826
|
|
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr)
|
rs1220749812
|
|
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
|
|
|
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs)
|
rs1588568477
|
|
NM_000264.5(PTCH1):c.2514A>G (p.Lys838=)
|
rs149134846
|
|
NM_000264.5(PTCH1):c.2514dup (p.Gln839fs)
|
|
|
NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter)
|
rs1564030530
|
|
NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)
|
|
|
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
|
|
|
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
|
|
|
NM_000264.5(PTCH1):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000264.5(PTCH1):c.2527A>G (p.Met843Val)
|
|
|
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
|
|
|
NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg)
|
rs2117947928
|
|
NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)
|
rs2117947811
|
|
NM_000264.5(PTCH1):c.2532G>A (p.Trp844Ter)
|
|
|
NM_000264.5(PTCH1):c.2532G>C (p.Trp844Cys)
|
rs1840077192
|
|
NM_000264.5(PTCH1):c.2532G>T (p.Trp844Cys)
|
rs1840077192
|
|
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.2540A>G (p.Tyr847Cys)
|
rs1352235060
|
|
NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)
|
rs863224347
|
|
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)
|
rs863224347
|
|
NM_000264.5(PTCH1):c.2544C>T (p.Phe848=)
|
|
|
NM_000264.5(PTCH1):c.2545del (p.Arg849fs)
|
rs2117946757
|
|
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His)
|
rs41313327
|
|
NM_000264.5(PTCH1):c.2549A>T (p.Asp850Val)
|
|
|
NM_000264.5(PTCH1):c.2553G>T (p.Trp851Cys)
|
|
|
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro)
|
rs1554694254
|
|
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+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+1G>A
|
|
|
NM_000264.5(PTCH1):c.2560+1G>T
|
|
|
NM_000264.5(PTCH1):c.2560+20T>G
|
rs750223422
|
|
NM_000264.5(PTCH1):c.2560+32G>A
|
rs2066837
|
|
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
|
|
NM_000264.5(PTCH1):c.2561-1887C>T
|
rs57068466
|
|
NM_000264.5(PTCH1):c.2561-2053G>A
|
|
|