NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00008
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)
|
rs371328106
|
0.00003
|
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)
|
rs919177150
|
0.00003
|
NM_002528.7(NTHL1):c.115+1G>A
|
rs749908882
|
0.00002
|
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)
|
rs2084372140
|
0.00001
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)
|
rs1198246754
|
0.00001
|
NM_002528.7(NTHL1):c.685+1G>A
|
rs372946560
|
0.00001
|
NM_002528.7(NTHL1):c.-9G>T
|
|
|
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)
|
rs1413587495
|
|
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
|
|
|
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)
|
rs1596223384
|
|
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)
|
rs2150947238
|
|
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)
|
rs1290880136
|
|
NM_002528.7(NTHL1):c.185del (p.Gly62fs)
|
|
|
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
|
|
|
NM_002528.7(NTHL1):c.203del (p.Gly68fs)
|
rs1555492819
|
|
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)
|
rs745671590
|
|
NM_002528.7(NTHL1):c.226del (p.Val76fs)
|
|
|
NM_002528.7(NTHL1):c.232del (p.Val78fs)
|
rs1314290585
|
|
NM_002528.7(NTHL1):c.265dup (p.Val89fs)
|
rs2150945928
|
|
NM_002528.7(NTHL1):c.305_315del (p.Val102fs)
|
|
|
NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)
|
|
|
NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)
|
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.353dup (p.Val119fs)
|
|
|
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)
|
rs759955745
|
|
NM_002528.7(NTHL1):c.357dup (p.Arg120fs)
|
|
|
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)
|
rs371328106
|
|
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)
|
rs1596220478
|
|
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)
|
rs758667255
|
|
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
|
|
|
NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)
|
|
|
NM_002528.7(NTHL1):c.460del (p.Asp154fs)
|
rs1596220332
|
|
NM_002528.7(NTHL1):c.469del (p.Leu157fs)
|
|
|
NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)
|
|
|
NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)
|
|
|
NM_002528.7(NTHL1):c.510del (p.Val171fs)
|
rs1567369975
|
|
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
|
|
|
NM_002528.7(NTHL1):c.542del (p.Ile181fs)
|
|
|
NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)
|
|
|
NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)
|
|
|
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)
|
rs1455020789
|
|
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)
|
rs2150941243
|
|
NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)
|
|
|
NM_002528.7(NTHL1):c.668del (p.Gly223fs)
|
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_002528.7(NTHL1):c.716del (p.Asn239fs)
|
|
|
NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)
|
|
|
NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)
|
|
|
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)
|
rs879181418
|
|
NM_002528.7(NTHL1):c.763dup (p.Arg255fs)
|
|
|
NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)
|
|
|
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs)
|
rs2084517687
|
|
NM_002528.7(NTHL1):c.84del (p.Pro30fs)
|
rs2150957715
|
|