All transcript variants in gene PHOX2B

Information The variants shown are described using the NM_003924.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-28C>T r.(=) p.(=) g.41750655G>A Copied from the Exome Variant Server PHOX2B_000024 1/13004 0/8600 1/4404
?/? c.231G>T r.(=) p.(=) g.41750397C>A Copied from the Exome Variant Server PHOX2B_000023 1/13006 1/8600 0/4406
?/? c.234C>T r.(=) p.(=) g.41750394G>A Copied from the Exome Variant Server PHOX2B_000022 49/13006 0/8600 49/4406
?/? c.241+38T>A r.(=) p.(=) g.41750349A>T Copied from the Exome Variant Server PHOX2B_000021 2/13002 2/8600 0/4402
?/? c.242-52G>T r.(=) p.(=) g.41749605C>A Copied from the Exome Variant Server PHOX2B_000020 2/7232 2/4602 0/2630
?/? c.242-34T>A r.(=) p.(=) g.41749587A>T Copied from the Exome Variant Server PHOX2B_000019 1/13000 1/8596 0/4404
?/? c.306C>G r.(=) p.(=) g.41749489G>C Copied from the Exome Variant Server PHOX2B_000018 1/13006 1/8600 0/4406
?/? c.309C>G r.(=) p.(=) g.41749486G>C Copied from the Exome Variant Server PHOX2B_000017 1/13006 1/8600 0/4406
?/? c.405C>T r.(=) p.(=) g.41749390G>A Copied from the Exome Variant Server PHOX2B_000016 1/13006 0/8600 1/4406
?/? c.429+19del r.(=) p.(=) g.41749347del Copied from the Exome Variant Server PHOX2B_000015 3/12510 1/8250 2/4260
?/? c.429+34G>A r.(=) p.(=) g.41749332C>T Copied from the Exome Variant Server PHOX2B_000014 2/12978 0/8582 2/4396
?/? c.429+38T>C r.(=) p.(=) g.41749328A>G Copied from the Exome Variant Server PHOX2B_000013 1/12984 1/8590 0/4394
?/? c.450C>G r.(=) p.(=) g.41748319G>C Copied from the Exome Variant Server PHOX2B_000012 53/12994 0/8594 53/4400
?/? c.552C>T r.(=) p.(=) g.41748217G>A Copied from the Exome Variant Server PHOX2B_000011 159/13006 117/8600 42/4406
?/? c.591C>G r.(=) p.(=) g.41748178G>C Copied from the Exome Variant Server PHOX2B_000010 6/13006 6/8600 0/4406
?/? c.630G>T r.(=) p.(=) g.41748139C>A Copied from the Exome Variant Server PHOX2B_000009 1/12998 1/8596 0/4402
?/? c.639C>G r.(=) p.(=) g.41748130G>C Copied from the Exome Variant Server PHOX2B_000008 7/12970 6/8574 1/4396
?/? c.642C>T r.(=) p.(=) g.41748127G>A Copied from the Exome Variant Server PHOX2B_000007 28/12956 0/8568 28/4388
?/? c.648_650del r.(?) p.(Gly217del) g.41748119_41748121del Copied from the Exome Variant Server PHOX2B_000006 86/12170 56/8018 30/4152
?/? c.756_776del r.(?) p.(Ala254_Ala260del) g.41747993_41748013del Copied from the Exome Variant Server PHOX2B_000005 100/3110 17/2436 83/674
?/? c.832G>A r.(?) p.(Gly278Ser) g.41747937C>T Copied from the Exome Variant Server PHOX2B_000004 15/12980 0/8588 15/4392
?/? c.853G>C r.(?) p.(Asp285His) g.41747916C>G Copied from the Exome Variant Server PHOX2B_000003 1/13006 0/8600 1/4406
?/? c.870C>A r.(=) p.(=) g.41747899G>T Copied from the Exome Variant Server PHOX2B_000002 410/13006 164/8600 246/4406
?/? c.*30_*32del r.(=) p.(=) g.41747792_41747794del Copied from the Exome Variant Server PHOX2B_000001 419/10474 304/7164 115/3310
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