All transcript variants in gene CETN2

Information The variants shown are described using the NM_004344.1 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-45T>G r.(=) p.(=) g.151999299A>C Copied from the Exome Variant Server CETN2_000029 111/10207 0/6478 111/3729
?/? c.-31G>A r.(=) p.(=) g.151999285C>T Copied from the Exome Variant Server CETN2_000028 75/10330 0/6563 75/3767
?/? c.-25C>T r.(=) p.(=) g.151999279G>A Copied from the Exome Variant Server CETN2_000030 1/10355 0/6588 1/3767
?/? c.3+12C>T r.(=) p.(=) g.151999240G>A Copied from the Exome Variant Server CETN2_000031 212/10403 0/6624 212/3779
?/? c.3+16C>T r.(=) p.(=) g.151999236G>A Copied from the Exome Variant Server CETN2_000034 1/10408 0/6638 1/3770
?/? c.3+28A>G r.(=) p.(=) g.151999224T>C Copied from the Exome Variant Server CETN2_000033 2/10414 0/6636 2/3778
?/? c.3+29C>T r.(=) p.(=) g.151999223G>A Copied from the Exome Variant Server CETN2_000032 111/10414 1/6636 110/3778
?/? c.3+39C>T r.(=) p.(=) g.151999213G>A Copied from the Exome Variant Server CETN2_000027 113/10345 0/6578 113/3767
?/? c.3+57_3+58del r.(=) p.(=) g.151999194_151999195del Copied from the Exome Variant Server CETN2_000026 72/9841 45/6244 27/3597
?/? c.4-36A>G r.(=) p.(=) g.151998340T>C Copied from the Exome Variant Server CETN2_000025 665/10563 363/6728 302/3835
?/? c.4-18A>G r.(=) p.(=) g.151998322T>C Copied from the Exome Variant Server CETN2_000024 19/10563 18/6728 1/3835
?/? c.55A>G r.(?) p.(Met19Val) g.151998253T>C Copied from the Exome Variant Server CETN2_000023 1/10563 1/6728 0/3835
?/? c.126G>A r.(=) p.(=) g.151998182C>T Copied from the Exome Variant Server CETN2_000022 3/10563 0/6728 3/3835
?/? c.143T>C r.(?) p.(Ile48Thr) g.151998165A>G Copied from the Exome Variant Server CETN2_000021 1/10563 1/6728 0/3835
?/? c.162+30C>G r.(=) p.(=) g.151998116G>C Copied from the Exome Variant Server CETN2_000020 1/10563 0/6728 1/3835
?/? c.162+49T>A r.(=) p.(=) g.151998097A>T Copied from the Exome Variant Server CETN2_000019 1/10563 1/6728 0/3835
?/? c.163-41C>G r.(=) p.(=) g.151997862G>C Copied from the Exome Variant Server CETN2_000018 120/10556 0/6723 120/3833
?/? c.163-40T>G r.(=) p.(=) g.151997861A>C Copied from the Exome Variant Server CETN2_000017 1/10556 0/6723 1/3833
?/? c.163-7T>A r.(=) p.(=) g.151997828A>T Copied from the Exome Variant Server CETN2_000016 121/10562 0/6727 121/3835
?/? c.243A>C r.(=) p.(=) g.151997741T>G Copied from the Exome Variant Server CETN2_000015 1/10563 0/6728 1/3835
?/? c.260G>C r.(?) p.(Gly87Ala) g.151997724C>G Copied from the Exome Variant Server CETN2_000014 1/10563 0/6728 1/3835
?/? c.291+9C>T r.(=) p.(=) g.151997684G>A Copied from the Exome Variant Server CETN2_000013 2/10563 2/6728 0/3835
?/? c.292-16T>C r.(=) p.(=) g.151997234A>G Copied from the Exome Variant Server CETN2_000012 1/10563 1/6728 0/3835
?/? c.324A>G r.(=) p.(=) g.151997186T>C Copied from the Exome Variant Server CETN2_000011 1/10563 1/6728 0/3835
?/? c.366G>A r.(=) p.(=) g.151997144C>T Copied from the Exome Variant Server CETN2_000010 1/10563 1/6728 0/3835
?/? c.384C>T r.(=) p.(=) g.151997126G>A Copied from the Exome Variant Server CETN2_000009 1/10563 0/6728 1/3835
?/? c.429+4T>G r.spl? p.? g.151997077A>C Copied from the Exome Variant Server CETN2_000008 2/10563 2/6728 0/3835
?/? c.430-36G>A r.(=) p.(=) g.151996510C>T Copied from the Exome Variant Server CETN2_000007 2/10563 1/6728 1/3835
?/? c.430-26T>C r.(=) p.(=) g.151996500A>G Copied from the Exome Variant Server CETN2_000006 1/10563 1/6728 0/3835
?/? c.441T>C r.(=) p.(=) g.151996463A>G Copied from the Exome Variant Server CETN2_000005 1/10563 1/6728 0/3835
?/? c.473G>A r.(?) p.(Ser158Asn) g.151996431C>T Copied from the Exome Variant Server CETN2_000004 2/10563 2/6728 0/3835
?/? c.490C>T r.(?) p.(Arg164Cys) g.151996414G>A Copied from the Exome Variant Server CETN2_000003 1/10563 0/6728 1/3835
?/? c.*6G>A r.(=) p.(=) g.151996379C>T Copied from the Exome Variant Server CETN2_000002 2/10563 0/6728 2/3835
?/? c.*23T>G r.(=) p.(=) g.151996362A>C Copied from the Exome Variant Server CETN2_000001 1/10563 1/6728 0/3835
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