NM_000501.4(ELN):c.427+8C>T
|
rs55868272
|
0.01032
|
NM_000501.4(ELN):c.1622-13C>T
|
rs41362346
|
0.00728
|
NM_000501.4(ELN):c.*429C>T
|
rs62476387
|
0.00365
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)
|
rs140425210
|
0.00288
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_000501.4(ELN):c.1358-253G>A
|
rs370619098
|
0.00136
|
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)
|
rs140411170
|
0.00080
|
NM_000501.4(ELN):c.1507G>A (p.Val503Met)
|
rs41523046
|
0.00057
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)
|
rs138876104
|
0.00043
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000501.4(ELN):c.1358-225T>C
|
rs375867140
|
0.00036
|
NM_000501.4(ELN):c.366A>G (p.Gly122=)
|
rs61734587
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000501.4(ELN):c.2109C>T (p.Phe703=)
|
rs149755814
|
0.00032
|
NM_000501.4(ELN):c.1884C>T (p.Ala628=)
|
rs372315353
|
0.00031
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_000501.4(ELN):c.1747+109A>G
|
rs782414975
|
0.00029
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
0.00020
|
NM_000501.4(ELN):c.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
NM_000501.4(ELN):c.949+14G>A
|
rs200929398
|
0.00019
|
NM_000501.4(ELN):c.1467C>T (p.Val489=)
|
rs200512332
|
0.00017
|
NM_000501.4(ELN):c.1747+26C>T
|
rs371491330
|
0.00017
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_000501.4(ELN):c.1747+23G>A
|
rs368791422
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_000501.4(ELN):c.1317C>T (p.Pro439=)
|
rs201861098
|
0.00014
|
NM_000501.4(ELN):c.196+18G>A
|
rs374473857
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_000501.4(ELN):c.1357+9C>A
|
rs372800803
|
0.00011
|
NM_000501.4(ELN):c.1358-209C>T
|
rs569004868
|
0.00011
|
NM_000501.4(ELN):c.165G>A (p.Ala55=)
|
rs376512299
|
0.00011
|
NM_000501.4(ELN):c.717G>A (p.Ala239=)
|
rs782502253
|
0.00011
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000501.4(ELN):c.1206G>T (p.Gly402=)
|
rs552147776
|
0.00007
|
NM_000501.4(ELN):c.240C>T (p.Gly80=)
|
rs138649857
|
0.00007
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)
|
rs200444292
|
0.00006
|
NM_000501.4(ELN):c.1590C>T (p.Ser530=)
|
rs782526296
|
0.00006
|
NM_000501.4(ELN):c.1767C>T (p.Ala589=)
|
rs117816525
|
0.00006
|
NM_000501.4(ELN):c.1875C>T (p.Ala625=)
|
rs782752342
|
0.00006
|
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)
|
rs139547471
|
0.00006
|
NM_000501.4(ELN):c.483C>T (p.Pro161=)
|
rs150690195
|
0.00006
|
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)
|
rs782335529
|
0.00006
|
NM_000501.4(ELN):c.2032+19C>T
|
rs782201561
|
0.00005
|
NM_000501.4(ELN):c.213G>A (p.Ala71=)
|
rs202194806
|
0.00005
|
NM_000501.4(ELN):c.473C>T (p.Ala158Val)
|
rs201137255
|
0.00005
|
NM_000501.4(ELN):c.1287C>T (p.Val429=)
|
rs200666061
|
0.00004
|
NM_000501.4(ELN):c.1358-185G>A
|
rs782737850
|
0.00004
|
NM_000501.4(ELN):c.159A>T (p.Gly53=)
|
rs200810494
|
0.00004
|
NM_000501.4(ELN):c.1671C>T (p.Val557=)
|
rs563533415
|
0.00004
|
NM_000501.4(ELN):c.1674C>T (p.Gly558=)
|
rs182784538
|
0.00004
|
NM_000501.4(ELN):c.1747+49G>C
|
rs201047209
|
0.00004
|
NM_000501.4(ELN):c.1872C>T (p.Ala624=)
|
rs781807182
|
0.00004
|
NM_000501.4(ELN):c.18G>A (p.Ala6=)
|
rs542540015
|
0.00004
|
NM_000501.4(ELN):c.1932C>T (p.Ala644=)
|
rs782238627
|
0.00004
|
NM_000501.4(ELN):c.2067C>T (p.Ala689=)
|
rs782657493
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
NM_000501.4(ELN):c.2086+7G>T
|
rs782306052
|
0.00004
|
NM_000501.4(ELN):c.2132-5T>A
|
rs539160518
|
0.00004
|
NM_000501.4(ELN):c.414T>C (p.Pro138=)
|
rs782230185
|
0.00004
|
NM_000501.4(ELN):c.528G>A (p.Lys176=)
|
rs782412839
|
0.00004
|
NM_000501.4(ELN):c.696C>T (p.Pro232=)
|
rs148054981
|
0.00004
|
NM_000501.4(ELN):c.1202C>T (p.Ala401Val)
|
rs782493042
|
0.00003
|
NM_000501.4(ELN):c.134-4dup
|
rs878854451
|
0.00003
|
NM_000501.4(ELN):c.134-6C>A
|
rs368904789
|
0.00003
|
NM_000501.4(ELN):c.1358-230G>A
|
rs550475158
|
0.00003
|
NM_000501.4(ELN):c.1994-13C>T
|
rs532271061
|
0.00003
|
NM_000501.4(ELN):c.470-8C>G
|
rs781877758
|
0.00003
|
NM_000501.4(ELN):c.799+10C>T
|
rs781812932
|
0.00003
|
NM_000501.4(ELN):c.1299G>A (p.Pro433=)
|
rs367742656
|
0.00002
|
NM_000501.4(ELN):c.1434C>T (p.Gly478=)
|
rs781926084
|
0.00002
|
NM_000501.4(ELN):c.1950C>T (p.Leu650=)
|
rs373342218
|
0.00002
|
NM_000501.4(ELN):c.196+13G>C
|
rs370961040
|
0.00002
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000501.4(ELN):c.2132-6G>A
|
rs781831349
|
0.00002
|
NM_000501.4(ELN):c.377-5G>A
|
rs571360232
|
0.00002
|
NM_000501.4(ELN):c.549T>G (p.Gly183=)
|
rs782332803
|
0.00002
|
NM_000501.4(ELN):c.800-12C>G
|
rs370561295
|
0.00002
|
NM_000501.4(ELN):c.1050G>C (p.Gly350=)
|
rs782727999
|
0.00001
|
NM_000501.4(ELN):c.1089G>A (p.Ala363=)
|
rs782204123
|
0.00001
|
NM_000501.4(ELN):c.1191C>T (p.Tyr397=)
|
rs782798160
|
0.00001
|
NM_000501.4(ELN):c.1233C>T (p.Val411=)
|
rs202052596
|
0.00001
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
NM_000501.4(ELN):c.1316-12G>A
|
rs782357759
|
0.00001
|
NM_000501.4(ELN):c.1316-18T>C
|
rs782574590
|
0.00001
|
NM_000501.4(ELN):c.133+20C>T
|
rs782637996
|
0.00001
|
NM_000501.4(ELN):c.134-10C>G
|
rs782069123
|
0.00001
|
NM_000501.4(ELN):c.134-14C>T
|
rs782028490
|
0.00001
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.1506C>T (p.Gly502=)
|
rs533649697
|
0.00001
|
NM_000501.4(ELN):c.1577-4T>C
|
rs1554683264
|
0.00001
|
NM_000501.4(ELN):c.1622-6C>T
|
rs1280128851
|
0.00001
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
NM_000501.4(ELN):c.1747+14A>G
|
rs1438687754
|
0.00001
|
NM_000501.4(ELN):c.1747+92A>C
|
rs782216165
|
0.00001
|
NM_000501.4(ELN):c.1787-8C>G
|
rs782713818
|
0.00001
|
NM_000501.4(ELN):c.1869C>T (p.Pro623=)
|
rs530876235
|
0.00001
|
NM_000501.4(ELN):c.1956C>T (p.Val652=)
|
rs1469217967
|
0.00001
|
NM_000501.4(ELN):c.2086+8del
|
rs782078342
|
0.00001
|
NM_000501.4(ELN):c.42C>T (p.Leu14=)
|
rs1554660052
|
0.00001
|
NM_000501.4(ELN):c.6G>A (p.Ala2=)
|
rs782540463
|
0.00001
|
NM_000501.4(ELN):c.84G>A (p.Gly28=)
|
rs782193520
|
0.00001
|
NM_000501.4(ELN):c.870T>C (p.Pro290=)
|
rs1794105324
|
0.00001
|
NM_000501.4(ELN):c.885C>T (p.Ile295=)
|
rs782196025
|
0.00001
|
NM_000501.4(ELN):c.1020C>T (p.Gly340=)
|
rs782012004
|
|
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
|
|
|
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
|
|
|
NM_000501.4(ELN):c.1096+12TG[24]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+9G>C
|
rs1554677524
|
|
NM_000501.4(ELN):c.114T>C (p.Pro38=)
|
rs782104032
|
|
NM_000501.4(ELN):c.1150+17C>G
|
|
|
NM_000501.4(ELN):c.1167C>T (p.Val389=)
|
|
|
NM_000501.4(ELN):c.1170A>G (p.Gly390=)
|
rs1060504936
|
|
NM_000501.4(ELN):c.117A>T (p.Gly39=)
|
|
|
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
|
|
|
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
|
|
|
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
|
|
|
NM_000501.4(ELN):c.1227C>A (p.Val409=)
|
|
|
NM_000501.4(ELN):c.1251C>T (p.Val417=)
|
rs782315685
|
|
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
|
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1316-13C>T
|
|
|
NM_000501.4(ELN):c.133+16C>T
|
rs144223231
|
|
NM_000501.4(ELN):c.134-5C>G
|
rs202142516
|
|
NM_000501.4(ELN):c.134-5C>T
|
|
|
NM_000501.4(ELN):c.134-7C>A
|
rs782721415
|
|
NM_000501.4(ELN):c.134-7C>T
|
|
|
NM_000501.4(ELN):c.1358-18T>A
|
|
|
NM_000501.4(ELN):c.1358-191G>A
|
|
|
NM_000501.4(ELN):c.1358-218T>G
|
|
|
NM_000501.4(ELN):c.1358-262C>T
|
|
|
NM_000501.4(ELN):c.1358-276A>G
|
|
|
NM_000501.4(ELN):c.138T>C (p.Ala46=)
|
|
|
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
|
|
|
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
|
|
|
NM_000501.4(ELN):c.1414+11C>T
|
|
|
NM_000501.4(ELN):c.1414+11dup
|
rs782491657
|
|
NM_000501.4(ELN):c.1414+16C>T
|
|
|
NM_000501.4(ELN):c.1414+20G>T
|
|
|
NM_000501.4(ELN):c.1414+9C>T
|
|
|
NM_000501.4(ELN):c.1415-16C>T
|
|
|
NM_000501.4(ELN):c.1431C>T (p.Val477=)
|
rs782141278
|
|
NM_000501.4(ELN):c.144C>T (p.Leu48=)
|
|
|
NM_000501.4(ELN):c.1509G>T (p.Val503=)
|
|
|
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
|
|
|
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
|
|
|
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
|
|
|
NM_000501.4(ELN):c.1576+10A>G
|
|
|
NM_000501.4(ELN):c.1576+8T>C
|
|
|
NM_000501.4(ELN):c.1577-9C>G
|
|
|
NM_000501.4(ELN):c.15G>A (p.Thr5=)
|
|
|
NM_000501.4(ELN):c.1621+11C>T
|
|
|
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
|
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1])
|
rs782739997
|
|
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
|
|
|
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
|
|
|
NM_000501.4(ELN):c.1747+105T>G
|
rs536262259
|
|
NM_000501.4(ELN):c.1747+107G>C
|
|
|
NM_000501.4(ELN):c.1747+32C>T
|
|
|
NM_000501.4(ELN):c.1747+56C>T
|
|
|
NM_000501.4(ELN):c.1747+86C>T
|
|
|
NM_000501.4(ELN):c.1747+89A>G
|
|
|
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
|
|
|
NM_000501.4(ELN):c.1787-11T>A
|
rs782431386
|
|
NM_000501.4(ELN):c.1787-4G>A
|
|
|
NM_000501.4(ELN):c.1787-6C>T
|
|
|
NM_000501.4(ELN):c.1803G>T (p.Gly601=)
|
|
|
NM_000501.4(ELN):c.1806C>G (p.Val602=)
|
|
|
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
|
|
|
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
|
|
|
NM_000501.4(ELN):c.1858+16A>G
|
|
|
NM_000501.4(ELN):c.1859-7T>C
|
|
|
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
|
|
|
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
|
|
|
NM_000501.4(ELN):c.18G>C (p.Ala6=)
|
|
|
NM_000501.4(ELN):c.192G>A (p.Lys64=)
|
|
|
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
|
|
|
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])
|
rs374813147
|
|
NM_000501.4(ELN):c.196+10A>C
|
|
|
NM_000501.4(ELN):c.196+17C>G
|
|
|
NM_000501.4(ELN):c.196+17C>T
|
|
|
NM_000501.4(ELN):c.197-9T>C
|
|
|
NM_000501.4(ELN):c.1993+7G>C
|
|
|
NM_000501.4(ELN):c.1994-18T>C
|
|
|
NM_000501.4(ELN):c.1994-6C>T
|
|
|
NM_000501.4(ELN):c.2033-11C>T
|
|
|
NM_000501.4(ELN):c.207G>T (p.Gly69=)
|
|
|
NM_000501.4(ELN):c.2086+12C>A
|
rs2132668936
|
|
NM_000501.4(ELN):c.2086+13A>G
|
|
|
NM_000501.4(ELN):c.2086+15C>T
|
|
|
NM_000501.4(ELN):c.2087-4G>A
|
|
|
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
|
|
|
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
|
|
|
NM_000501.4(ELN):c.2131+10G>A
|
|
|
NM_000501.4(ELN):c.2148G>C (p.Gly716=)
|
rs782642175
|
|
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
|
|
|
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
|
|
|
NM_000501.4(ELN):c.232+14C>G
|
|
|
NM_000501.4(ELN):c.233-9C>T
|
|
|
NM_000501.4(ELN):c.294C>T (p.Asp98=)
|
|
|
NM_000501.4(ELN):c.326-16T>C
|
|
|
NM_000501.4(ELN):c.327C>T (p.Gly109=)
|
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000501.4(ELN):c.33C>T (p.Pro11=)
|
|
|
NM_000501.4(ELN):c.369G>A (p.Val123=)
|
|
|
NM_000501.4(ELN):c.376+18G>A
|
|
|
NM_000501.4(ELN):c.377-14C>T
|
|
|
NM_000501.4(ELN):c.377-16G>A
|
|
|
NM_000501.4(ELN):c.384G>T (p.Val128=)
|
|
|
NM_000501.4(ELN):c.402C>T (p.Ala134=)
|
|
|
NM_000501.4(ELN):c.427+11A>G
|
|
|
NM_000501.4(ELN):c.427+8C>A
|
|
|
NM_000501.4(ELN):c.428-10T>C
|
|
|
NM_000501.4(ELN):c.429T>C (p.Gly143=)
|
|
|
NM_000501.4(ELN):c.435G>T (p.Gly145=)
|
|
|
NM_000501.4(ELN):c.441A>C (p.Pro147=)
|
|
|
NM_000501.4(ELN):c.45G>A (p.Leu15=)
|
rs1787872217
|
|
NM_000501.4(ELN):c.470-10C>T
|
rs200663056
|
|
NM_000501.4(ELN):c.470-6C>T
|
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000501.4(ELN):c.48C>G (p.Leu16=)
|
|
|
NM_000501.4(ELN):c.541+14T>C
|
|
|
NM_000501.4(ELN):c.542-10A>G
|
|
|
NM_000501.4(ELN):c.572-19G>A
|
|
|
NM_000501.4(ELN):c.585T>C (p.Phe195=)
|
|
|
NM_000501.4(ELN):c.594G>A (p.Pro198=)
|
rs140337204
|
|
NM_000501.4(ELN):c.594G>T (p.Pro198=)
|
rs140337204
|
|
NM_000501.4(ELN):c.643+15C>T
|
|
|
NM_000501.4(ELN):c.644-13G>T
|
rs2131638108
|
|
NM_000501.4(ELN):c.644-17CT[4]
|
|
|
NM_000501.4(ELN):c.644-6C>T
|
|
|
NM_000501.4(ELN):c.685+11C>A
|
|
|
NM_000501.4(ELN):c.685+18A>G
|
|
|
NM_000501.4(ELN):c.686-18A>G
|
|
|
NM_000501.4(ELN):c.69C>T (p.Pro23=)
|
|
|
NM_000501.4(ELN):c.6G>C (p.Ala2=)
|
|
|
NM_000501.4(ELN):c.705G>A (p.Val235=)
|
|
|
NM_000501.4(ELN):c.726T>C (p.Ala242=)
|
|
|
NM_000501.4(ELN):c.745+16C>T
|
|
|
NM_000501.4(ELN):c.746-7C>T
|
|
|
NM_000501.4(ELN):c.786A>T (p.Ala262=)
|
rs782342976
|
|
NM_000501.4(ELN):c.813C>T (p.Ala271=)
|
|
|
NM_000501.4(ELN):c.82+13C>T
|
|
|
NM_000501.4(ELN):c.82+14G>A
|
|
|
NM_000501.4(ELN):c.83-18C>T
|
|
|
NM_000501.4(ELN):c.83-20C>T
|
|
|
NM_000501.4(ELN):c.858T>A (p.Pro286=)
|
|
|
NM_000501.4(ELN):c.87C>T (p.Val29=)
|
|
|
NM_000501.4(ELN):c.889+16G>A
|
|
|
NM_000501.4(ELN):c.889+20G>T
|
|
|
NM_000501.4(ELN):c.891C>T (p.Gly297=)
|
|
|
NM_000501.4(ELN):c.930C>G (p.Ala310=)
|
|
|
NM_000501.4(ELN):c.949+11C>T
|
|
|
NM_000501.4(ELN):c.949+13C>G
|
|
|
NM_000501.4(ELN):c.949+9C>T
|
|
|
NM_000501.4(ELN):c.993G>A (p.Pro331=)
|
rs371757750
|
|