NM_003924.4(PHOX2B):c.429+101A>G
|
rs28647582
|
0.38224
|
NM_003924.4(PHOX2B):c.242-115G>A
|
rs6811325
|
0.37759
|
NC_000004.12:g.41749194G>A
|
rs28462174
|
0.09673
|
NC_000004.12:g.41749306G>A
|
rs28727473
|
0.08535
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
NM_003924.4(PHOX2B):c.*161G>A
|
rs114290493
|
0.01029
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_003924.4(PHOX2B):c.*80G>A
|
rs75913938
|
0.00612
|
NM_003924.4(PHOX2B):c.429+80G>T
|
rs114158743
|
0.00540
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)
|
rs190973308
|
0.00162
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)
|
rs144414806
|
0.00036
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)
|
rs1335294030
|
0.00002
|
NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp)
|
rs1044995380
|
0.00002
|
NM_003924.4(PHOX2B):c.78G>A (p.Leu26=)
|
rs746854983
|
0.00002
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser)
|
rs1194861348
|
0.00001
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
0.00001
|
NM_003924.4(PHOX2B):c.345G>A (p.Arg115=)
|
rs747055965
|
0.00001
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
0.00001
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
0.00001
|
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)
|
rs769663483
|
0.00001
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
NM_003924.4(PHOX2B):c.*12GCG[4]
|
rs763380864
|
|
NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)
|
rs2153113046
|
|
NM_003924.4(PHOX2B):c.286C>A (p.Arg96Ser)
|
rs1450088667
|
|
NM_003924.4(PHOX2B):c.299G>A (p.Arg100His)
|
rs104893855
|
|
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)
|
rs2153112943
|
|
NM_003924.4(PHOX2B):c.323_334del (p.Ala108_Lys111del)
|
|
|
NM_003924.4(PHOX2B):c.360_362del (p.His121del)
|
rs2153112938
|
|
NM_003924.4(PHOX2B):c.377A>G (p.Tyr126Cys)
|
rs773193688
|
|
NM_003924.4(PHOX2B):c.379A>T (p.Thr127Ser)
|
|
|
NM_003924.4(PHOX2B):c.430-172A>C
|
rs2196822
|
|
NM_003924.4(PHOX2B):c.575del (p.Pro192fs)
|
|
|
NM_003924.4(PHOX2B):c.591C>A (p.Gly197=)
|
rs144414806
|
|
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.750_779dup (p.Ala251_Ala260dup)
|
rs1560465524
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003924.4(PHOX2B):c.779C>T (p.Ala260Val)
|
rs1060501125
|
|
NM_003924.4(PHOX2B):c.779_780insGGCGGCGGCGGCAGC (p.Ala256_Ala260dup)
|
rs1733874227
|
|
NM_003924.4(PHOX2B):c.795G>T (p.Ala265=)
|
rs1440737466
|
|
NM_003924.4(PHOX2B):c.809G>T (p.Gly270Val)
|
rs1577558821
|
|
NM_003924.4(PHOX2B):c.819G>A (p.Trp273Ter)
|
|
|
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
|
rs1733869488
|
|
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)
|
rs1733868277
|
|
NM_003924.4(PHOX2B):c.881T>A (p.Val294Asp)
|
|
|
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
|
rs1733865401
|
|
NM_003924.4(PHOX2B):c.95_105del (p.Asp32fs)
|
rs1733985177
|
|