Full data view for gene SCML1

Information The variants shown are described using the NM_006746.4 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-53A>G r.(=) p.(=) g.17762254A>G Copied from the Exome Variant Server SCML1_000001 2/3600 2/2391 0/1209 - - - - - - -
?/? c.-8G>T r.(=) p.(=) g.17762299G>T Copied from the Exome Variant Server SCML1_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.34-575G>C r.(=) p.(=) g.17763560G>C Copied from the Exome Variant Server SCML1_000003 1/10547 1/6719 0/3828 - - - - - - -
?/? c.34-11T>A r.(=) p.(=) g.17764124T>A Copied from the Exome Variant Server SCML1_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.42G>A r.(=) p.(=) g.17764143G>A Copied from the Exome Variant Server SCML1_000005 1/10562 1/6727 0/3835 - - - - - - -
?/? c.118-21G>C r.(=) p.(=) g.17767499G>C Copied from the Exome Variant Server SCML1_000006 1/10557 0/6724 1/3833 - - - - - - -
?/? c.118-17A>G r.(=) p.(=) g.17767503A>G Copied from the Exome Variant Server SCML1_000007 7/10558 0/6725 7/3833 - - - - - - -
?/? c.200C>T r.(?) p.(Ala67Val) g.17767602C>T Copied from the Exome Variant Server SCML1_000008 6/10563 3/6728 3/3835 - - - - - - -
?/? c.223-41T>G r.(=) p.(=) g.17767973T>G Copied from the Exome Variant Server SCML1_000009 3/10517 3/6700 0/3817 - - - - - - -
?/? c.223-19_223-18del r.(=) p.(=) g.17767995_17767996del Copied from the Exome Variant Server SCML1_000010 1/10203 0/6484 1/3719 - - - - - - -
?/? c.372G>A r.(=) p.(=) g.17768163G>A Copied from the Exome Variant Server SCML1_000011 9/10563 1/6728 8/3835 - - - - - - -
?/? c.409T>C r.(?) p.(Tyr137His) g.17768200T>C Copied from the Exome Variant Server SCML1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.438G>A r.(=) p.(=) g.17768229G>A Copied from the Exome Variant Server SCML1_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.449G>A r.(?) p.(Arg150His) g.17768240G>A Copied from the Exome Variant Server SCML1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.477T>C r.(=) p.(=) g.17768268T>C Copied from the Exome Variant Server SCML1_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.524C>T r.(?) p.(Thr175Met) g.17768315C>T Copied from the Exome Variant Server SCML1_000016 6/10563 0/6728 6/3835 - - - - - - -
?/? c.622+25A>G r.(=) p.(=) g.17768438A>G Copied from the Exome Variant Server SCML1_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.622+26T>C r.(=) p.(=) g.17768439T>C Copied from the Exome Variant Server SCML1_000018 3/10563 3/6728 0/3835 - - - - - - -
?/? c.622+49T>G r.(=) p.(=) g.17768462T>G Copied from the Exome Variant Server SCML1_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.622+50G>C r.(=) p.(=) g.17768463G>C Copied from the Exome Variant Server SCML1_000020 2/10563 0/6728 2/3835 - - - - - - -
?/? c.623-38G>C r.(=) p.(=) g.17769897G>C Copied from the Exome Variant Server SCML1_000022 185/10563 1/6728 184/3835 - - - - - - -
?/? c.629G>A r.(?) p.(Arg210Lys) g.17769941G>A Copied from the Exome Variant Server SCML1_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.17770068C>T Copied from the Exome Variant Server SCML1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.774+44A>G r.(=) p.(=) g.17770130A>G Copied from the Exome Variant Server SCML1_000021 3/10563 2/6728 1/3835 - - - - - - -
?/? c.775-24T>A r.(=) p.(=) g.17771354T>A Copied from the Exome Variant Server SCML1_000023 7/10563 7/6728 0/3835 - - - - - - -
?/? c.775-22G>T r.(=) p.(=) g.17771356G>T Copied from the Exome Variant Server SCML1_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.775-4A>G r.spl? p.? g.17771374A>G Copied from the Exome Variant Server SCML1_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.834G>A r.(=) p.(=) g.17771437G>A Copied from the Exome Variant Server SCML1_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.17771473C>T Copied from the Exome Variant Server SCML1_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*23A>G r.(=) p.(=) g.17771535A>G Copied from the Exome Variant Server SCML1_000030 2/10563 0/6728 2/3835 - - - - - - -
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