Full data view for gene TRAPPC2

Information The variants shown are described using the NM_014563.5 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.72_73insA r.(?) p.(Ala25Serfs*27) g.13738010_13738011insT Copied from the Exome Variant Server TRAPPC2_000013 1/9107 1/6136 0/2971 - - - - - - -
?/? c.93+7A>C r.(=) p.(=) g.13737983T>G Copied from the Exome Variant Server TRAPPC2_000012 1/9444 1/6388 0/3056 - - - - - - -
?/? c.93+11A>C r.(=) p.(=) g.13737979T>G Copied from the Exome Variant Server TRAPPC2_000011 1/9441 0/6389 1/3052 - - - - - - -
?/? c.94-43C>T r.(=) p.(=) g.13734840G>A Copied from the Exome Variant Server TRAPPC2_000010 1/9813 1/6479 0/3334 - - - - - - -
?/? c.97G>A r.(?) p.(Asp33Asn) g.13734794C>T Copied from the Exome Variant Server TRAPPC2_000009 1/10007 0/6529 1/3478 - - - - - - -
?/? c.111G>A r.(=) p.(=) g.13734780C>T Copied from the Exome Variant Server TRAPPC2_000008 2/10051 2/6527 0/3524 - - - - - - -
?/? c.145G>A r.(?) p.(Val49Ile) g.13734746C>T Copied from the Exome Variant Server TRAPPC2_000007 1/10024 0/6528 1/3496 - - - - - - -
?/? c.239-42del r.(=) p.(=) g.13734250del Copied from the Exome Variant Server TRAPPC2_000006 26/9026 2/6077 24/2949 - - - - - - -
?/? c.239-24_239-21del r.(=) p.(=) g.13734229_13734232del Copied from the Exome Variant Server TRAPPC2_000005 1/9027 1/6080 0/2947 - - - - - - -
?/? c.324+7T>C r.(=) p.(=) g.13734116A>G Copied from the Exome Variant Server TRAPPC2_000004 2/9320 0/6309 2/3011 - - - - - - -
?/? c.324+54T>G r.(=) p.(=) g.13734069A>C Copied from the Exome Variant Server TRAPPC2_000003 74/3564 72/2357 2/1207 - - - - - - -
?/? c.*29C>T r.(=) p.(=) g.13732497G>A Copied from the Exome Variant Server TRAPPC2_000002 64/9314 0/6274 64/3040 - - - - - - -
?/? c.*41G>A r.(=) p.(=) g.13732485C>T Copied from the Exome Variant Server TRAPPC2_000001 1/9216 1/6211 0/3005 - - - - - - -
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