Full data view for gene SHH

Information The variants shown are described using the NM_000193.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.27G>C r.(=) p.(=) g.155604790C>G Copied from the Exome Variant Server SHH_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.52G>T r.(?) p.(Val18Leu) g.155604765C>A Copied from the Exome Variant Server SHH_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.60G>A r.(=) p.(=) g.155604757C>T Copied from the Exome Variant Server SHH_000023 3/13006 3/8600 0/4406 - - - - - - -
?/? c.162G>A r.(=) p.(=) g.155604655C>T Copied from the Exome Variant Server SHH_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.200C>G r.(?) p.(Ser67Cys) g.155604617G>C Copied from the Exome Variant Server SHH_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213G>A r.(=) p.(=) g.155604604C>T Copied from the Exome Variant Server SHH_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.300+17G>A r.(=) p.(=) g.155604500C>T Copied from the Exome Variant Server SHH_000016 57/13006 2/8600 55/4406 - - - - - - -
?/? c.300+42G>T r.(=) p.(=) g.155604475C>A Copied from the Exome Variant Server SHH_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301-49G>A r.(=) p.(=) g.155599300C>T Copied from the Exome Variant Server SHH_000019 5878/13002 4941/8598 937/4404 - - - - - - -
?/? c.301-17T>A r.(=) p.(=) g.155599268A>T Copied from the Exome Variant Server SHH_000017 9/13006 8/8600 1/4406 - - - - - - -
?/? c.342G>A r.(?) p.(Met114Ile) g.155599210C>T Copied from the Exome Variant Server SHH_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435A>G r.(=) p.(=) g.155599117T>C Copied from the Exome Variant Server SHH_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.465C>T r.(=) p.(=) g.155599087G>A Copied from the Exome Variant Server SHH_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.155599078G>A Copied from the Exome Variant Server SHH_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.488G>A r.(?) p.(Arg163His) g.155599064C>T Copied from the Exome Variant Server SHH_000011 2/13004 2/8598 0/4406 - - - - - - -
?/? c.562+12C>A r.(=) p.(=) g.155598978G>T Copied from the Exome Variant Server SHH_000010 1/12992 1/8588 0/4404 - - - - - - -
?/? c.562+28G>T r.(=) p.(=) g.155598962C>A Copied from the Exome Variant Server SHH_000009 1/12928 0/8550 1/4378 - - - - - - -
?/? c.570G>A r.(=) p.(=) g.155596413C>T Copied from the Exome Variant Server SHH_000008 27/12796 26/8520 1/4276 - - - - - - -
?/? c.585G>T r.(=) p.(=) g.155596398C>A Copied from the Exome Variant Server SHH_000007 1/12814 0/8518 1/4296 - - - - - - -
?/? c.622G>C r.(?) p.(Glu208Gln) g.155596361C>G Copied from the Exome Variant Server SHH_000006 1/12938 0/8566 1/4372 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.155596353G>A Copied from the Exome Variant Server SHH_000005 167/12958 4/8576 163/4382 - - - - - - -
?/? c.645G>C r.(=) p.(=) g.155596338C>G Copied from the Exome Variant Server SHH_000004 1/12962 0/8576 1/4386 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.155596227G>A Copied from the Exome Variant Server SHH_000003 2/12906 0/8546 2/4360 - - - - - - -
?/? c.1078C>T r.(=) p.(=) g.155595905G>A Copied from the Exome Variant Server SHH_000002 9/10714 8/7184 1/3530 - - - - - - -
?/? c.*10del r.(=) p.(=) g.155595584del Copied from the Exome Variant Server SHH_000001 37/5936 29/4156 8/1780 - - - - - - -
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