NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_000501.4(ELN):c.*238C>T
|
rs546341976
|
0.00038
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
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.*95C>T
|
rs181078432
|
0.00019
|
NM_000501.4(ELN):c.*489G>T
|
rs886062432
|
0.00014
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)
|
rs200133966
|
0.00011
|
NM_000501.4(ELN):c.*570G>A
|
rs565400803
|
0.00010
|
NM_000501.4(ELN):c.*532C>T
|
rs939778506
|
0.00009
|
NM_000501.4(ELN):c.*591C>T
|
rs782460313
|
0.00009
|
NM_000501.4(ELN):c.*644G>A
|
rs759507028
|
0.00008
|
NM_000501.4(ELN):c.*629T>C
|
rs776424755
|
0.00006
|
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
|
rs201012726
|
0.00006
|
NM_000501.4(ELN):c.*664G>A
|
rs952638605
|
0.00004
|
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)
|
rs781857513
|
0.00004
|
NM_000501.4(ELN):c.853G>A (p.Val285Met)
|
rs199709542
|
0.00004
|
NM_000501.4(ELN):c.*663C>T
|
rs886062433
|
0.00003
|
NM_000501.4(ELN):c.*794C>T
|
rs185988110
|
0.00003
|
NM_000501.4(ELN):c.*251C>T
|
rs886062430
|
0.00002
|
NM_000501.4(ELN):c.*631C>T
|
rs1168466814
|
0.00002
|
NM_000501.4(ELN):c.*997G>T
|
rs886062434
|
0.00002
|
NM_000501.4(ELN):c.1097-8C>G
|
rs781785100
|
0.00002
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
NM_000501.4(ELN):c.1470T>C (p.Gly490=)
|
rs576324025
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
|
rs782285456
|
0.00001
|
NM_000501.3(ELN):c.-70G>C
|
rs537200597
|
|
NM_000501.4(ELN):c.*102C>T
|
rs1464325009
|
|
NM_000501.4(ELN):c.*1062dup
|
rs574934142
|
|
NM_000501.4(ELN):c.*1145dup
|
rs886062436
|
|
NM_000501.4(ELN):c.*171C>T
|
rs781941957
|
|
NM_000501.4(ELN):c.*264C>A
|
rs1309771565
|
|
NM_000501.4(ELN):c.*358C>T
|
rs1489252176
|
|
NM_000501.4(ELN):c.*458C>T
|
rs886062431
|
|
NM_000501.4(ELN):c.*578T>C
|
rs1798608245
|
|
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.1357+1G>A
|
|
|
NM_000501.4(ELN):c.1941C>A (p.Leu647=)
|
rs782117709
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000501.4(ELN):c.717G>T (p.Ala239=)
|
rs782502253
|
|