NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_000501.4(ELN):c.1358-253G>A
|
rs370619098
|
0.00136
|
NM_000501.4(ELN):c.1507G>A (p.Val503Met)
|
rs41523046
|
0.00057
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.2109C>T (p.Phe703=)
|
rs149755814
|
0.00032
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
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.1747+26C>T
|
rs371491330
|
0.00017
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000501.4(ELN):c.1590C>T (p.Ser530=)
|
rs782526296
|
0.00006
|
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)
|
rs139547471
|
0.00006
|
NM_000501.4(ELN):c.145G>A (p.Gly49Arg)
|
rs144757453
|
0.00005
|
NM_000501.4(ELN):c.213G>A (p.Ala71=)
|
rs202194806
|
0.00005
|
NM_000501.4(ELN):c.1358-185G>A
|
rs782737850
|
0.00004
|
NM_000501.4(ELN):c.853G>A (p.Val285Met)
|
rs199709542
|
0.00004
|
NM_000501.4(ELN):c.1202C>T (p.Ala401Val)
|
rs782493042
|
0.00003
|
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)
|
rs369045063
|
0.00003
|
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)
|
rs781904032
|
0.00001
|
NM_000501.4(ELN):c.1873G>A (p.Ala625Thr)
|
rs1200675959
|
0.00001
|
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)
|
rs552662894
|
0.00001
|
NM_000501.4(ELN):c.280G>C (p.Gly94Arg)
|
rs1554669275
|
0.00001
|
NM_000501.4(ELN):c.84G>A (p.Gly28=)
|
rs782193520
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.133+16C>A
|
rs144223231
|
|
NM_000501.4(ELN):c.134-5C>A
|
rs202142516
|
|
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)
|
rs1554665826
|
|
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)
|
rs782284755
|
|
NM_000501.4(ELN):c.1747+39C>T
|
|
|
NM_000501.4(ELN):c.1787-4G>A
|
|
|
NM_000501.4(ELN):c.1793C>T (p.Ala598Val)
|
|
|
NM_000501.4(ELN):c.1839C>G (p.Gly613=)
|
|
|
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
|
|
|
NM_000501.4(ELN):c.1869CGC[5] (p.Ala630dup)
|
rs1239601146
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000501.4(ELN):c.358G>A (p.Gly120Ser)
|
|
|
NM_000501.4(ELN):c.582C>T (p.Pro194=)
|
|
|
NM_000501.4(ELN):c.661T>C (p.Tyr221His)
|
|
|
NM_000501.4(ELN):c.698G>C (p.Gly233Ala)
|
|
|