All transcript variants in gene SPINK8

Information The variants shown are described using the NM_001080525.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.2T>C r.? p.? g.48369830A>G Copied from the Exome Variant Server SPINK8_000021 19/12242 13/8316 6/3926
?/? c.22G>A r.(?) p.(Ala8Thr) g.48369810C>T Copied from the Exome Variant Server SPINK8_000020 1/12270 1/8328 0/3942
?/? c.67+18G>A r.(=) p.(=) g.48369747C>T Copied from the Exome Variant Server SPINK8_000019 1/12224 0/8300 1/3924
?/? c.67+33del r.(=) p.(=) g.48369732del Copied from the Exome Variant Server SPINK8_000018 27/11640 20/7928 7/3712
?/? c.68-32G>A r.(=) p.(=) g.48362596C>T Copied from the Exome Variant Server SPINK8_000017 40/11930 0/8208 40/3722
?/? c.68-28C>T r.(=) p.(=) g.48362592G>A Copied from the Exome Variant Server SPINK8_000016 1/11936 1/8212 0/3724
?/? c.68-18T>C r.(=) p.(=) g.48362582A>G Copied from the Exome Variant Server SPINK8_000014 155/11942 6/8210 149/3732
?/? c.117+38G>C r.(=) p.(=) g.48362477C>G Copied from the Exome Variant Server SPINK8_000013 1/11932 0/8200 1/3732
?/? c.173G>A r.(?) p.(Ser58Asn) g.48361053C>T Copied from the Exome Variant Server SPINK8_000012 5/12178 0/8298 5/3880
?/? c.179C>T r.(?) p.(Pro60Leu) g.48361047G>A Copied from the Exome Variant Server SPINK8_000011 1/12168 1/8296 0/3872
?/? c.199G>A r.(?) p.(Val67Ile) g.48361027C>T Copied from the Exome Variant Server SPINK8_000010 1/12148 1/8284 0/3864
?/? c.234A>C r.(?) p.(Lys78Asn) g.48360992T>G Copied from the Exome Variant Server SPINK8_000009 2730/12086 2501/8260 229/3826
?/? c.239+3066T>C r.(=) p.(=) g.48357921A>G Copied from the Exome Variant Server SPINK8_000008 1/4566 1/3182 0/1384
?/? c.239+3164G>A r.(=) p.(=) g.48357823C>T Copied from the Exome Variant Server SPINK8_000007 1/4566 0/3182 1/1384
?/? c.266T>G r.(?) p.(Leu89Arg) g.48351410A>C Copied from the Exome Variant Server SPINK8_000006 1/9376 1/6560 0/2816
?/? c.282+50_282+54del r.(=) p.(=) g.48351340_48351344del Copied from the Exome Variant Server SPINK8_000005 24/7982 17/5528 7/2454
?/? c.283-71T>G r.(=) p.(=) g.48348564A>C Copied from the Exome Variant Server SPINK8_000004 1000/4566 894/3182 106/1384
?/? c.283-59del r.(=) p.(=) g.48348552del Copied from the Exome Variant Server SPINK8_000003 3/11452 3/7856 0/3596
?/? c.283-46T>C r.(=) p.(=) g.48348539A>G Copied from the Exome Variant Server SPINK8_000002 1/11920 1/8202 0/3718
?/? c.*62T>C r.(=) p.(=) g.48348420A>G Copied from the Exome Variant Server SPINK8_000001 1/4566 1/3182 0/1384
?/? c.*73A>C r.(=) p.(=) g.48348409T>G Copied from the Exome Variant Server SPINK8_000015 1/4566 0/3182 1/1384
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