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.493G>T (p.Val165Leu)
|
rs61734581
|
0.00472
|
NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000501.4(ELN):c.1358-336C>T
|
rs74645021
|
0.00344
|
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.1858+20G>A
|
rs200965648
|
0.00270
|
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.1414+19C>T
|
rs201440090
|
0.00025
|
NM_000501.4(ELN):c.427+9G>A
|
rs370752724
|
0.00019
|
NM_000501.4(ELN):c.949+14G>A
|
rs200929398
|
0.00019
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_000501.4(ELN):c.196+18G>A
|
rs374473857
|
0.00012
|
NM_000501.4(ELN):c.1357+9C>A
|
rs372800803
|
0.00011
|
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)
|
rs199621188
|
0.00010
|
NM_000501.4(ELN):c.1414+20G>A
|
rs200995478
|
0.00010
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)
|
rs149127344
|
0.00008
|
NM_000501.4(ELN):c.644-8C>T
|
rs201859539
|
0.00008
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000501.4(ELN):c.1287C>T (p.Val429=)
|
rs200666061
|
0.00004
|
NM_000501.4(ELN):c.1671C>T (p.Val557=)
|
rs563533415
|
0.00004
|
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)
|
rs34852121
|
0.00004
|
NM_000501.4(ELN):c.2067C>T (p.Ala689=)
|
rs782657493
|
0.00004
|
NM_000501.4(ELN):c.528G>A (p.Lys176=)
|
rs782412839
|
0.00004
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
NM_000501.4(ELN):c.134-6C>A
|
rs368904789
|
0.00003
|
NM_000501.4(ELN):c.1914G>A (p.Gln638=)
|
rs782650847
|
0.00003
|
NM_000501.4(ELN):c.1994-13C>T
|
rs532271061
|
0.00003
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000501.4(ELN):c.1233C>T (p.Val411=)
|
rs202052596
|
0.00001
|
NM_000501.4(ELN):c.1316-12G>A
|
rs782357759
|
0.00001
|
NM_000501.4(ELN):c.133+5C>T
|
rs375144839
|
0.00001
|
NM_000501.4(ELN):c.134-14C>T
|
rs782028490
|
0.00001
|
NM_000501.4(ELN):c.1358-152C>A
|
rs1337377263
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.1956C>T (p.Val652=)
|
rs1469217967
|
0.00001
|
NM_000501.4(ELN):c.774G>A (p.Ala258=)
|
rs781921056
|
0.00001
|
NM_000501.3(ELN):c.-37G>C
|
rs782267385
|
|
NM_000501.4(ELN):c.1096+12TG[16]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[17]
|
rs10579871
|
|
NM_000501.4(ELN):c.1150+20C>G
|
rs1554678579
|
|
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
|
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
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.133+16C>T
|
rs144223231
|
|
NM_000501.4(ELN):c.134-19T>C
|
rs535249280
|
|
NM_000501.4(ELN):c.134-5C>A
|
rs202142516
|
|
NM_000501.4(ELN):c.1414+11dup
|
rs782491657
|
|
NM_000501.4(ELN):c.1415-9A>G
|
rs727503032
|
|
NM_000501.4(ELN):c.1489_1506del (p.Leu497_Gly502del)
|
rs782393234
|
|
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)
|
rs863223529
|
|
NM_000501.4(ELN):c.1734T>C (p.Pro578=)
|
rs561258201
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000501.4(ELN):c.1918+3G>A
|
|
|
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])
|
rs374813147
|
|
NM_000501.4(ELN):c.469+5G>C
|
rs727503025
|
|
NM_000501.4(ELN):c.685+1_685+5dup
|
rs876657806
|
|