NM_000501.4(ELN):c.1315+17C>T
|
rs2856728
|
0.79828
|
NM_000501.4(ELN):c.2033-16A>G
|
rs45618836
|
0.02805
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
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.1388A>G (p.Lys463Arg)
|
rs34945509
|
0.00505
|
NM_000501.4(ELN):c.493G>T (p.Val165Leu)
|
rs61734581
|
0.00472
|
NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000501.4(ELN):c.921A>G (p.Ala307=)
|
rs6979788
|
0.00327
|
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala)
|
rs144341345
|
0.00297
|
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.1858+20G>A
|
rs200965648
|
0.00270
|
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_000501.4(ELN):c.1821G>C (p.Gly607=)
|
rs144835575
|
0.00109
|
NM_000501.4(ELN):c.469+14G>A
|
rs41347751
|
0.00103
|
NM_000501.4(ELN):c.1358-268A>G
|
rs374066807
|
0.00102
|
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)
|
rs140411170
|
0.00080
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_000501.4(ELN):c.326-20C>T
|
rs200397639
|
0.00066
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)
|
rs181019457
|
0.00048
|
NM_000501.4(ELN):c.1621+12G>A
|
rs200937895
|
0.00046
|
NM_000501.4(ELN):c.366A>G (p.Gly122=)
|
rs61734587
|
0.00034
|
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)
|
rs41376344
|
0.00034
|
NM_000501.4(ELN):c.1747+82C>A
|
rs186744935
|
0.00029
|
NM_000501.4(ELN):c.1414+19C>T
|
rs201440090
|
0.00025
|
NM_000501.4(ELN):c.1747+83C>T
|
rs191593990
|
0.00021
|
NM_000501.4(ELN):c.427+9G>A
|
rs370752724
|
0.00019
|
NM_000501.4(ELN):c.1467C>T (p.Val489=)
|
rs200512332
|
0.00017
|
NM_000501.4(ELN):c.1338C>T (p.Ala446=)
|
rs146576615
|
0.00016
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_000501.4(ELN):c.1358-236G>A
|
rs529133775
|
0.00013
|
NM_000501.4(ELN):c.1414+20G>A
|
rs200995478
|
0.00010
|
NM_000501.4(ELN):c.1918+19T>G
|
rs557259683
|
0.00009
|
NM_000501.4(ELN):c.644-8C>T
|
rs201859539
|
0.00008
|
NM_000501.4(ELN):c.133+11T>C
|
rs28763980
|
0.00007
|
NM_000501.4(ELN):c.2132-5T>A
|
rs539160518
|
0.00004
|
NM_000501.4(ELN):c.643+16G>A
|
rs199662424
|
0.00004
|
NM_000501.4(ELN):c.1404C>T (p.Ala468=)
|
rs189952915
|
0.00003
|
NM_000501.4(ELN):c.470-5G>A
|
rs368292481
|
0.00003
|
NM_000501.4(ELN):c.686-17G>A
|
rs149812011
|
0.00002
|
NM_000501.4(ELN):c.1747+80C>T
|
rs369548102
|
0.00001
|
NM_000501.4(ELN):c.233-4G>A
|
rs782410717
|
0.00001
|
NM_000501.4(ELN):c.1096+12TG[16]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[17]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[18]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[20]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[21]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[22]
|
rs10579871
|
|
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
|
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.133+16C>A
|
rs144223231
|
|
NM_000501.4(ELN):c.134-19T>C
|
rs535249280
|
|
NM_000501.4(ELN):c.134-5C>A
|
rs202142516
|
|
NM_000501.4(ELN):c.134-5dup
|
|
|
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del)
|
rs1563852165
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000501.4(ELN):c.1748-20C>T
|
|
|
NM_000501.4(ELN):c.924A>T (p.Ala308=)
|
rs539451717
|
|
NM_000501.4(ELN):c.949+8_949+19del
|
|
|