NM_001972.2(ELANE):c.-353G>A
|
rs2007647
|
0.19324
|
NM_001972.2(ELANE):c.-225C>A
|
rs740021
|
0.08648
|
NC_000019.10:g.856426T>A
|
rs187713106
|
0.04156
|
NM_001972.4(ELANE):c.390C>T (p.Asn130=)
|
rs17223045
|
0.02903
|
NC_000019.10:g.852044C>T
|
rs17216593
|
0.02837
|
NM_001972.4(ELANE):c.367-160C>T
|
rs17223038
|
0.02580
|
NC_000019.10:g.852033T>C
|
rs17222989
|
0.01904
|
NM_001972.4(ELANE):c.68-79G>A
|
rs17216621
|
0.01621
|
NM_001972.4(ELANE):c.68-84T>C
|
rs17223017
|
0.01346
|
NC_000019.10:g.856301G>A
|
rs17216677
|
0.01130
|
NM_001972.4(ELANE):c.366+192G>T
|
rs17223024
|
0.01062
|
NM_001972.3(ELANE):c.-41C>A
|
rs17216614
|
0.00970
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
NM_001972.4(ELANE):c.366+135C>T
|
rs144635045
|
0.00676
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
NM_001972.4(ELANE):c.597+66G>A
|
rs147820254
|
0.00493
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
NC_000019.10:g.856422A>T
|
rs17223052
|
0.00483
|
NC_000019.10:g.852234C>T
|
rs17216607
|
0.00482
|
NM_001972.4(ELANE):c.99C>T (p.Gly33=)
|
rs17216628
|
0.00463
|
NM_001972.2(ELANE):c.-162C>T
|
rs556325692
|
0.00245
|
NM_001972.4(ELANE):c.366+32C>T
|
rs201956844
|
0.00121
|
NC_000019.10:g.852205C>T
|
rs351106
|
0.00101
|
NM_001972.4(ELANE):c.366+125G>A
|
rs576804561
|
0.00076
|
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr)
|
rs143579306
|
0.00055
|
NM_001972.4(ELANE):c.171C>T (p.Ala57=)
|
rs201224981
|
0.00039
|
NM_001972.4(ELANE):c.654C>T (p.Phe218=)
|
rs148492780
|
0.00037
|
NM_001972.4(ELANE):c.*68C>G
|
rs200271285
|
0.00035
|
NM_001972.4(ELANE):c.16C>A (p.Arg6=)
|
rs182347433
|
0.00028
|
NM_001972.4(ELANE):c.68-15C>A
|
rs367875841
|
0.00026
|
NM_001972.4(ELANE):c.431G>A (p.Arg144His)
|
rs142441575
|
0.00020
|
NM_001972.4(ELANE):c.366+12C>A
|
rs377068029
|
0.00017
|
NM_001972.4(ELANE):c.174C>T (p.Thr58=)
|
rs199714513
|
0.00014
|
NM_001972.4(ELANE):c.428G>A (p.Arg143His)
|
rs200993994
|
0.00014
|
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)
|
rs112990855
|
0.00014
|
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
|
rs201421847
|
0.00011
|
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)
|
rs535990034
|
0.00011
|
NM_001972.4(ELANE):c.23C>T (p.Ala8Val)
|
rs201961347
|
0.00010
|
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe)
|
rs1085307624
|
0.00010
|
NM_001972.4(ELANE):c.-11C>T
|
rs748507982
|
0.00009
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
NM_001972.4(ELANE):c.68-13G>A
|
rs371409487
|
0.00007
|
NM_001972.4(ELANE):c.519C>T (p.Asn173=)
|
rs200393776
|
0.00006
|
NM_001972.4(ELANE):c.597+10C>G
|
rs201460728
|
0.00006
|
NM_001972.4(ELANE):c.68-19G>A
|
rs199933756
|
0.00005
|
NM_001972.4(ELANE):c.*15G>T
|
rs961341040
|
0.00004
|
NM_001972.4(ELANE):c.268T>C (p.Ser90Pro)
|
rs753965718
|
0.00004
|
NM_001972.4(ELANE):c.333C>G (p.Pro111=)
|
rs774932781
|
0.00004
|
NM_001972.4(ELANE):c.372C>T (p.Asn124=)
|
rs200595736
|
0.00004
|
NM_001972.4(ELANE):c.456G>A (p.Leu152=)
|
rs200599820
|
0.00004
|
NM_001972.4(ELANE):c.568G>A (p.Val190Met)
|
rs367663236
|
0.00004
|
NM_001972.4(ELANE):c.201G>T (p.Ser67=)
|
rs200254961
|
0.00003
|
NM_001972.4(ELANE):c.21C>T (p.Leu7=)
|
rs200666143
|
0.00003
|
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln)
|
rs755088297
|
0.00003
|
NM_001972.4(ELANE):c.502G>A (p.Val168Ile)
|
rs201313263
|
0.00003
|
NM_001972.4(ELANE):c.627C>T (p.Asn209=)
|
rs201664319
|
0.00003
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
NC_000019.10:g.852196C>T
|
rs1599289783
|
0.00002
|
NM_001972.4(ELANE):c.224+31C>G
|
rs201836597
|
0.00002
|
NM_001972.4(ELANE):c.407C>T (p.Ala136Val)
|
rs145175658
|
0.00002
|
NM_001972.4(ELANE):c.556G>A (p.Val186Ile)
|
rs140642538
|
0.00002
|
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)
|
rs199659114
|
0.00002
|
NM_001972.4(ELANE):c.597+65C>T
|
rs960168587
|
0.00002
|
NM_001972.4(ELANE):c.68-64C>T
|
rs1212646432
|
0.00002
|
NM_001972.4(ELANE):c.687C>T (p.Pro229=)
|
rs199670861
|
0.00002
|
NC_000019.10:g.852285G>C
|
rs200601380
|
0.00001
|
NC_000019.10:g.852287G>A
|
rs758179184
|
0.00001
|
NM_001972.4(ELANE):c.*40C>G
|
rs1366725236
|
0.00001
|
NM_001972.4(ELANE):c.102G>A (p.Arg34=)
|
rs1241470202
|
0.00001
|
NM_001972.4(ELANE):c.126C>T (p.Pro42=)
|
rs587780933
|
0.00001
|
NM_001972.4(ELANE):c.204C>T (p.Ala68=)
|
rs1568304177
|
0.00001
|
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr)
|
rs759486889
|
0.00001
|
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser)
|
rs769123461
|
0.00001
|
NM_001972.4(ELANE):c.241C>T (p.Arg81Trp)
|
rs1131691914
|
0.00001
|
NM_001972.4(ELANE):c.303G>A (p.Val101=)
|
rs1330923988
|
0.00001
|
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)
|
rs1303279241
|
0.00001
|
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys)
|
rs199558534
|
0.00001
|
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)
|
rs774508567
|
0.00001
|
NM_001972.4(ELANE):c.598-1G>A
|
rs201117839
|
0.00001
|
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg)
|
rs140880838
|
0.00001
|
NM_001972.4(ELANE):c.63G>T (p.Leu21=)
|
rs779360541
|
0.00001
|
NM_001972.4(ELANE):c.702G>A (p.Pro234=)
|
rs202059602
|
0.00001
|
NC_000019.10:g.852238C>G
|
rs370728101
|
|
NC_000019.10:g.852288C>T
|
rs17216614
|
|
NC_000019.10:g.856425dup
|
rs199720952
|
|
NC_000019.10:g.856435AAAAT[5]
|
rs113311784
|
|
NM_001972.2(ELANE):c.600_601dupGG
|
rs1057518191
|
|
NM_001972.4(ELANE):c.137C>A (p.Ser46Tyr)
|
rs878855320
|
|
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe)
|
rs878855320
|
|
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro)
|
rs878855319
|
|
NM_001972.4(ELANE):c.157C>T (p.His53Tyr)
|
rs1131691882
|
|
NM_001972.4(ELANE):c.176T>G (p.Leu59Arg)
|
rs1555709367
|
|
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)
|
rs878855315
|
|
NM_001972.4(ELANE):c.224+99del
|
rs34535016
|
|
NM_001972.4(ELANE):c.225-66G>T
|
rs559254755
|
|
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys)
|
rs746799175
|
|
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)
|
rs1064793108
|
|
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup)
|
rs1468631555
|
|
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp)
|
rs777652186
|
|
NM_001972.4(ELANE):c.290A>C (p.Gln97Pro)
|
rs1085307717
|
|
NM_001972.4(ELANE):c.305A>C (p.Gln102Pro)
|
rs568474579
|
|
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu)
|
rs745455816
|
|
NM_001972.4(ELANE):c.336_359del (p.Asn113_Ile120del)
|
rs879255272
|
|
NM_001972.4(ELANE):c.358A>T (p.Ile120Phe)
|
rs1131691520
|
|
NM_001972.4(ELANE):c.366+10G>A
|
rs764038526
|
|
NM_001972.4(ELANE):c.366+299G>T
|
rs532906039
|
|
NM_001972.4(ELANE):c.366+66G>C
|
rs2145145506
|
|
NM_001972.4(ELANE):c.367-16G>A
|
rs1555709863
|
|
NM_001972.4(ELANE):c.367-8C>T
|
rs200752339
|
|
NM_001972.4(ELANE):c.36C>A (p.Leu12=)
|
rs751186012
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.437G>A (p.Gly146Asp)
|
rs878855316
|
|
NM_001972.4(ELANE):c.452G>T (p.Cys151Phe)
|
rs57246956
|
|
NM_001972.4(ELANE):c.519C>A (p.Asn173Lys)
|
rs200393776
|
|
NM_001972.4(ELANE):c.558C>A (p.Val186=)
|
rs878855317
|
|
NM_001972.4(ELANE):c.573G>C (p.Arg191Ser)
|
rs754277797
|
|
NM_001972.4(ELANE):c.577C>T (p.Arg193Trp)
|
rs201723157
|
|
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
|
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
NM_001972.4(ELANE):c.597+1G>C
|
rs1555710005
|
|
NM_001972.4(ELANE):c.597+20C>T
|
rs879254187
|
|
NM_001972.4(ELANE):c.597+5G>A
|
rs879253882
|
|
NM_001972.4(ELANE):c.605C>T (p.Ser202Phe)
|
rs878855321
|
|
NM_001972.4(ELANE):c.606C>T (p.Ser202=)
|
rs17216649
|
|
NM_001972.4(ELANE):c.60G>A (p.Leu20=)
|
rs755546229
|
|
NM_001972.4(ELANE):c.614C>G (p.Pro205Arg)
|
rs1555710077
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
NM_001972.4(ELANE):c.67+199A>G
|
rs570466264
|
|
NM_001972.4(ELANE):c.67+1del
|
rs886039350
|
|
NM_001972.4(ELANE):c.67+209_67+210del
|
rs371057361
|
|
NM_001972.4(ELANE):c.67+210del
|
rs371057361
|
|
NM_001972.4(ELANE):c.67+210dup
|
rs371057361
|
|
NM_001972.4(ELANE):c.68-106G>A
|
rs775299038
|
|
NM_001972.4(ELANE):c.68-107_68-85del
|
rs200116667
|
|
NM_001972.4(ELANE):c.68-129G>A
|
rs2035613508
|
|
NM_001972.4(ELANE):c.68-145GATCCCGTGGGTTCCCGGTGGGG[3]
|
rs200116667
|
|
NM_001972.4(ELANE):c.68-61T>A
|
rs2145143776
|
|
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)
|
rs201224216
|
|
NM_001972.4(ELANE):c.77T>C (p.Leu26Pro)
|
rs878855314
|
|