Full data view for gene CT47B1

Information The variants shown are described using the NM_001145718.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.291_293del r.(?) p.(Glu99del) g.120009232_120009234del Copied from the Exome Variant Server CT47B1_000015 220/8805 187/5615 33/3190 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.120009222G>A Copied from the Exome Variant Server CT47B1_000014 9/3599 0/2390 9/1209 - - - - - - -
?/? c.367G>A r.(?) p.(Val123Met) g.120009158C>T Copied from the Exome Variant Server CT47B1_000013 3/3599 0/2390 3/1209 - - - - - - -
?/? c.391C>T r.(?) p.(Leu131Phe) g.120009134G>A Copied from the Exome Variant Server CT47B1_000012 2/3599 1/2390 1/1209 - - - - - - -
?/? c.396C>G r.(=) p.(=) g.120009129G>C Copied from the Exome Variant Server CT47B1_000011 4/3599 4/2390 0/1209 - - - - - - -
?/? c.405C>G r.(=) p.(=) g.120009120G>C Copied from the Exome Variant Server CT47B1_000010 1/3599 1/2390 0/1209 - - - - - - -
?/? c.411C>G r.(?) p.(His137Gln) g.120009114G>C Copied from the Exome Variant Server CT47B1_000009 1/3599 1/2390 0/1209 - - - - - - -
?/? c.418C>T r.(?) p.(His140Tyr) g.120009107G>A Copied from the Exome Variant Server CT47B1_000008 3/3599 3/2390 0/1209 - - - - - - -
?/? c.420C>G r.(?) p.(His140Gln) g.120009105G>C Copied from the Exome Variant Server CT47B1_000007 1/3599 0/2390 1/1209 - - - - - - -
?/? c.546A>G r.(=) p.(=) g.120008979T>C Copied from the Exome Variant Server CT47B1_000006 2253/3598 1169/2389 1084/1209 - - - - - - -
?/? c.582G>A r.(=) p.(=) g.120008943C>T Copied from the Exome Variant Server CT47B1_000005 4/3598 2/2389 2/1209 - - - - - - -
?/? c.593A>G r.(?) p.(Glu198Gly) g.120008932T>C Copied from the Exome Variant Server CT47B1_000004 86/3598 0/2389 86/1209 - - - - - - -
?/? c.598G>T r.(?) p.(Ala200Ser) g.120008927C>A Copied from the Exome Variant Server CT47B1_000003 4/3599 0/2390 4/1209 - - - - - - -
?/? c.667G>A r.(?) p.(Ala223Thr) g.120008858C>T Copied from the Exome Variant Server CT47B1_000002 1/3599 0/2390 1/1209 - - - - - - -
?/? c.736G>T r.(?) p.(Ala246Ser) g.120008789C>A Copied from the Exome Variant Server CT47B1_000001 1/3598 1/2389 0/1209 - - - - - - -
Legend