NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
NM_001972.4(ELANE):c.214G>A (p.Val72Met)
|
rs387906553
|
0.00001
|
NM_001972.2(ELANE):c.[292G>T;301G>T]
|
|
|
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
|
|
|
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.164G>A (p.Cys55Tyr)
|
|
|
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)
|
rs137854447
|
|
NM_001972.4(ELANE):c.1A>G (p.Met1Val)
|
rs2145142832
|
|
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)
|
rs28931611
|
|
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro)
|
rs762470485
|
|
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)
|
rs1064793108
|
|
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg)
|
rs1405536870
|
|
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla)
|
rs2145145135
|
|
NM_001972.4(ELANE):c.301G>A (p.Val101Met)
|
rs137854449
|
|
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro)
|
rs745455816
|
|
NM_001972.4(ELANE):c.367-8C>A
|
rs200752339
|
|
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp)
|
rs137854450
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
|
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)
|
rs57246956
|
|
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser)
|
rs57246956
|
|
NM_001972.4(ELANE):c.461T>G (p.Met154Arg)
|
rs1429051935
|
|
NM_001972.4(ELANE):c.538del (p.Leu180fs)
|
|
|
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)
|
rs797045009
|
|
NM_001972.4(ELANE):c.574_583del (p.Gly192fs)
|
rs2145148969
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
NM_001972.4(ELANE):c.597+1G>C
|
rs1555710005
|
|
NM_001972.4(ELANE):c.597+5G>A
|
rs879253882
|
|
NM_001972.4(ELANE):c.597+5G>T
|
rs879253882
|
|
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg)
|
rs201139487
|
|
NM_001972.4(ELANE):c.639del (p.His213fs)
|
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)
|
rs1599294750
|
|
NM_001972.4(ELANE):c.687del (p.Asp230fs)
|
rs2145149748
|
|
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter)
|
rs2035677025
|
|
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter)
|
rs2145149815
|
|
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)
|
rs28936381
|
|
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)
|
rs587779413
|
|