All transcript variants in gene SNRPE

Information The variants shown are described using the NM_003094.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31C>T r.(=) p.(=) g.203830757C>T Copied from the Exome Variant Server SNRPE_000001 2/13006 2/8600 0/4406
?/? c.-24G>T r.(=) p.(=) g.203830764G>T Copied from the Exome Variant Server SNRPE_000002 2/13006 2/8600 0/4406
?/? c.-13G>T r.(=) p.(=) g.203830775G>T Copied from the Exome Variant Server SNRPE_000003 1/13006 1/8600 0/4406
?/? c.5C>T r.(?) p.(Ala2Val) g.203830792C>T Copied from the Exome Variant Server SNRPE_000005 1/13006 1/8600 0/4406
?/? c.54+10G>A r.(=) p.(=) g.203830851G>A Copied from the Exome Variant Server SNRPE_000007 1/13006 0/8600 1/4406
?/? c.55-63G>A r.(=) p.(=) g.203831261G>A Copied from the Exome Variant Server SNRPE_000009 535/4566 362/3182 173/1384
?/? c.55-26del r.(=) p.(=) g.203831298del Copied from the Exome Variant Server SNRPE_000010 93/12518 65/8254 28/4264
?/? c.81+12G>T r.(=) p.(=) g.203831362G>T Copied from the Exome Variant Server SNRPE_000011 1/13006 0/8600 1/4406
?/? c.81+28C>G r.(=) p.(=) g.203831378C>G Copied from the Exome Variant Server SNRPE_000012 2/13004 1/8598 1/4406
?/? c.81+38A>G r.(=) p.(=) g.203831388A>G Copied from the Exome Variant Server SNRPE_000013 4/13004 0/8598 4/4406
?/? c.81+39A>G r.(=) p.(=) g.203831389A>G Copied from the Exome Variant Server SNRPE_000014 1/13004 1/8598 0/4406
?/? c.81+40G>A r.(=) p.(=) g.203831390G>A Copied from the Exome Variant Server SNRPE_000015 2/13004 2/8598 0/4406
?/? c.81+42G>A r.(=) p.(=) g.203831392G>A Copied from the Exome Variant Server SNRPE_000016 1/13004 1/8598 0/4406
?/? c.81+45G>A r.(=) p.(=) g.203831395G>A Copied from the Exome Variant Server SNRPE_000017 14/13004 14/8598 0/4406
?/? c.81+72T>C r.(=) p.(=) g.203831422T>C Copied from the Exome Variant Server SNRPE_000018 3/4566 3/3182 0/1384
?/? c.123G>A r.(?) p.(Met41Ile) g.203832832G>A Copied from the Exome Variant Server SNRPE_000019 3/13006 0/8600 3/4406
?/? c.144+63T>C r.(=) p.(=) g.203832916T>C Copied from the Exome Variant Server SNRPE_000020 3/4566 0/3182 3/1384
?/? c.145-19_145-16del r.(=) p.(=) g.203834150_203834153del Copied from the Exome Variant Server SNRPE_000021 1/12520 0/8254 1/4266
?/? c.223+23A>G r.(=) p.(=) g.203834270A>G Copied from the Exome Variant Server SNRPE_000022 1/12988 0/8594 1/4394
?/? c.224-32A>G r.(=) p.(=) g.203838973A>G Copied from the Exome Variant Server SNRPE_000004 4/13006 0/8600 4/4406
?/? c.252T>C r.(=) p.(=) g.203839033T>C Copied from the Exome Variant Server SNRPE_000006 1/13006 1/8600 0/4406
?/? c.*10A>G r.(=) p.(=) g.203839070A>G Copied from the Exome Variant Server SNRPE_000008 1/13000 0/8594 1/4406
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