NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)
|
rs17884724
|
0.03446
|
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)
|
rs17882335
|
0.00827
|
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)
|
rs757355779
|
0.00466
|
NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly)
|
rs765803171
|
0.00029
|
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)
|
rs766767855
|
0.00017
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
NM_003924.4(PHOX2B):c.766G>A (p.Ala256Thr)
|
rs761010146
|
0.00004
|
NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)
|
rs752867315
|
0.00003
|
NM_003924.4(PHOX2B):c.747A>C (p.Ala249=)
|
rs1443950997
|
0.00002
|
NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)
|
rs1482074468
|
0.00001
|
NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)
|
rs1060501124
|
0.00001
|
NM_003924.4(PHOX2B):c.731C>A (p.Ala244Glu)
|
rs1191194818
|
0.00001
|
NM_003924.4(PHOX2B):c.735G>A (p.Ala245=)
|
rs1171236347
|
0.00001
|
NM_003924.4(PHOX2B):c.741C>A (p.Ala247=)
|
rs764470906
|
0.00001
|
NM_003924.4(PHOX2B):c.744G>A (p.Ala248=)
|
rs758533453
|
0.00001
|
NM_003924.4(PHOX2B):c.756G>A (p.Ala252=)
|
rs1173050990
|
0.00001
|
NM_003924.4(PHOX2B):c.759G>A (p.Ala253=)
|
rs1018522821
|
0.00001
|
NM_003924.4(PHOX2B):c.768A>G (p.Ala256=)
|
rs574093401
|
0.00001
|
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)
|
rs1733878065
|
|
NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del)
|
rs1064792993
|
|
NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val)
|
rs1733882577
|
|
NM_003924.4(PHOX2B):c.729A>C (p.Ala243=)
|
rs751829128
|
|
NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del)
|
rs772448418
|
|
NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)
|
rs772448418
|
|
NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val)
|
rs1191194818
|
|
NM_003924.4(PHOX2B):c.732G>A (p.Ala244=)
|
|
|
NM_003924.4(PHOX2B):c.732G>C (p.Ala244=)
|
rs1185437293
|
|
NM_003924.4(PHOX2B):c.732G>T (p.Ala244=)
|
|
|
NM_003924.4(PHOX2B):c.732_733insTCG (p.Ala244_Ala245insSer)
|
rs1733882011
|
|
NM_003924.4(PHOX2B):c.733G>A (p.Ala245Thr)
|
rs2153112768
|
|
NM_003924.4(PHOX2B):c.734C>T (p.Ala245Val)
|
rs1733881745
|
|
NM_003924.4(PHOX2B):c.735G>C (p.Ala245=)
|
|
|
NM_003924.4(PHOX2B):c.735G>T (p.Ala245=)
|
|
|
NM_003924.4(PHOX2B):c.735_761del (p.Ala252_Ala260del)
|
rs749694204
|
|
NM_003924.4(PHOX2B):c.735_767del (p.Ala250_Ala260del)
|
rs757850760
|
|
NM_003924.4(PHOX2B):c.738G>A (p.Ala246=)
|
rs2153112767
|
|
NM_003924.4(PHOX2B):c.738G>C (p.Ala246=)
|
rs2153112767
|
|
NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.739G>A (p.Ala247Thr)
|
rs1733881500
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del)
|
rs749694204
|
|
NM_003924.4(PHOX2B):c.741_767del (p.Ala252_Ala260del)
|
rs1577558924
|
|
NM_003924.4(PHOX2B):c.743C>A (p.Ala248Glu)
|
rs1733881041
|
|
NM_003924.4(PHOX2B):c.743C>T (p.Ala248Val)
|
rs1733881041
|
|
NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)
|
rs758533453
|
|
NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr)
|
rs1276685806
|
|
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
|
|
|
NM_003924.4(PHOX2B):c.747A>G (p.Ala249=)
|
rs1443950997
|
|
NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del)
|
rs778840671
|
|
NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu)
|
rs765803171
|
|
NM_003924.4(PHOX2B):c.750G>T (p.Ala250=)
|
rs17882335
|
|
NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del)
|
rs955563168
|
|
NM_003924.4(PHOX2B):c.750GGC[5] (p.Ala260dup)
|
rs955563168
|
|
NM_003924.4(PHOX2B):c.752C>T (p.Ala251Val)
|
rs2153112764
|
|
NM_003924.4(PHOX2B):c.753G>A (p.Ala251=)
|
|
|
NM_003924.4(PHOX2B):c.753G>C (p.Ala251=)
|
|
|
NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)
|
rs779557320
|
|
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)
|
rs779557320
|
|
NM_003924.4(PHOX2B):c.756G>C (p.Ala252=)
|
|
|
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)
|
rs17879189
|
|
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)
|
rs17879189
|
|
NM_003924.4(PHOX2B):c.759G>C (p.Ala253=)
|
|
|
NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)
|
|
|
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=)
|
rs17884724
|
|
NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)
|
rs1157597283
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
NM_003924.4(PHOX2B):c.767_768insGGCGGCGTCAGCGGC (p.255_258A[4]SAAAA[1])
|
rs2153112761
|
|
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)
|
rs2153112760
|
|
NM_003924.4(PHOX2B):c.771G>C (p.Ala257=)
|
rs772835924
|
|
NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup)
|
rs17886470
|
|
NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)
|
rs764220516
|
|
NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)
|
|
|
NM_003924.4(PHOX2B):c.774G>A (p.Ala258=)
|
rs1733875411
|
|
NM_003924.4(PHOX2B):c.775G>A (p.Ala259Thr)
|
|
|
NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)
|
|
|
NM_003924.4(PHOX2B):c.777A>G (p.Ala259=)
|
|
|
NP_003915.2:p.Ala260[(5_9)]
|
|
|