Full data view for gene SSR4

Information The variants shown are described using the NM_006280.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-499_-498insA r.(=) p.(=) g.153059644_153059645insA Copied from the Exome Variant Server SSR4_000001 644/7001 408/4525 236/2476 - - - - - - -
?/? c.-467G>A r.(=) p.(=) g.153059676G>A Copied from the Exome Variant Server SSR4_000002 18/9633 1/6149 17/3484 - - - - - - -
?/? c.-389C>T r.(?) p.(Gly10Ser) g.153059754C>T Copied from the Exome Variant Server SSR4_000003 1/9773 1/6238 0/3535 - - - - - - -
?/? c.-332G>T r.(=) p.(=) g.153059811G>T Copied from the Exome Variant Server SSR4_000004 1/10010 0/6364 1/3646 - - - - - - -
?/? c.-51C>T r.(=) p.(=) g.153060092C>T Copied from the Exome Variant Server SSR4_000005 4/10557 0/6728 4/3829 - - - - - - -
?/? c.-41A>G r.(=) p.(=) g.153060102A>G Copied from the Exome Variant Server SSR4_000006 1/10559 1/6728 0/3831 - - - - - - -
?/? c.68-50C>T r.(=) p.(=) g.153061839C>T Copied from the Exome Variant Server SSR4_000007 5/10563 5/6728 0/3835 - - - - - - -
?/? c.68-47G>T r.(=) p.(=) g.153061842G>T Copied from the Exome Variant Server SSR4_000008 3/10563 0/6728 3/3835 - - - - - - -
?/? c.68-40G>A r.(=) p.(=) g.153061849G>A Copied from the Exome Variant Server SSR4_000009 5/10563 0/6728 5/3835 - - - - - - -
?/? c.68-23G>C r.(=) p.(=) g.153061866G>C Copied from the Exome Variant Server SSR4_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.68-22C>T r.(=) p.(=) g.153061867C>T Copied from the Exome Variant Server SSR4_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.68-4G>A r.spl? p.? g.153061885G>A Copied from the Exome Variant Server SSR4_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.120C>T r.(=) p.(=) g.153061941C>T Copied from the Exome Variant Server SSR4_000029 5/10563 4/6728 1/3835 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.153061953C>T Copied from the Exome Variant Server SSR4_000030 2/10563 2/6728 0/3835 - - - - - - -
?/? c.186+23_186+25del r.(=) p.(=) g.153062030_153062032del Copied from the Exome Variant Server SSR4_000031 3/10205 0/6484 3/3721 - - - - - - -
?/? c.186+30C>T r.(=) p.(=) g.153062037C>T Copied from the Exome Variant Server SSR4_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.186+31G>A r.(=) p.(=) g.153062038G>A Copied from the Exome Variant Server SSR4_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.187-60G>A r.(=) p.(=) g.153062853G>A Copied from the Exome Variant Server SSR4_000034 134/3600 127/2391 7/1209 - - - - - - -
?/? c.187-23C>T r.(=) p.(=) g.153062890C>T Copied from the Exome Variant Server SSR4_000035 66/10562 0/6728 66/3834 - - - - - - -
?/? c.187-9C>T r.(=) p.(=) g.153062904C>T Copied from the Exome Variant Server SSR4_000036 2/10562 2/6728 0/3834 - - - - - - -
?/? c.208G>A r.(?) p.(Val70Ile) g.153062934G>A Copied from the Exome Variant Server SSR4_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.153062936C>T Copied from the Exome Variant Server SSR4_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.261+15G>A r.(=) p.(=) g.153063002G>A Copied from the Exome Variant Server SSR4_000039 2/10563 2/6728 0/3835 - - - - - - -
?/? c.261+18C>T r.(=) p.(=) g.153063005C>T Copied from the Exome Variant Server SSR4_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.261+23G>C r.(=) p.(=) g.153063010G>C Copied from the Exome Variant Server SSR4_000041 1/10562 1/6728 0/3834 - - - - - - -
?/? c.261+30G>T r.(=) p.(=) g.153063017G>T Copied from the Exome Variant Server SSR4_000019 2/10560 0/6728 2/3832 - - - - - - -
?/? c.261+48G>A r.(=) p.(=) g.153063035G>A Copied from the Exome Variant Server SSR4_000020 15/10558 0/6728 15/3830 - - - - - - -
?/? c.262-48G>A r.(=) p.(=) g.153063132G>A Copied from the Exome Variant Server SSR4_000021 27/10555 25/6722 2/3833 - - - - - - -
?/? c.262-41C>T r.(=) p.(=) g.153063139C>T Copied from the Exome Variant Server SSR4_000022 1/10554 0/6721 1/3833 - - - - - - -
?/? c.262-28C>T r.(=) p.(=) g.153063152C>T Copied from the Exome Variant Server SSR4_000023 1/10558 1/6724 0/3834 - - - - - - -
?/? c.262-22C>G r.(=) p.(=) g.153063158C>G Copied from the Exome Variant Server SSR4_000024 1/10560 0/6726 1/3834 - - - - - - -
?/? c.262-18G>T r.(=) p.(=) g.153063162G>T Copied from the Exome Variant Server SSR4_000025 1/10559 1/6725 0/3834 - - - - - - -
?/? c.332C>T r.(?) p.(Ser111Phe) g.153063250C>T Copied from the Exome Variant Server SSR4_000026 1/10562 1/6727 0/3835 - - - - - - -
?/? c.333C>T r.(=) p.(=) g.153063251C>T Copied from the Exome Variant Server SSR4_000010 1/10562 1/6727 0/3835 - - - - - - -
?/? c.351+19C>T r.(=) p.(=) g.153063288C>T Copied from the Exome Variant Server SSR4_000011 6/10551 5/6718 1/3833 - - - - - - -
?/? c.352-26G>C r.(=) p.(=) g.153063500G>C Copied from the Exome Variant Server SSR4_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.352-18C>T r.(=) p.(=) g.153063508C>T Copied from the Exome Variant Server SSR4_000013 13/10563 0/6728 13/3835 - - - - - - -
?/? c.352-13A>G r.(=) p.(=) g.153063513A>G Copied from the Exome Variant Server SSR4_000014 9/10563 9/6728 0/3835 - - - - - - -
?/? c.406G>A r.(?) p.(Val136Met) g.153063580G>A Copied from the Exome Variant Server SSR4_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.418-14_418-12del r.(=) p.(=) g.153063770_153063772del Copied from the Exome Variant Server SSR4_000016 3/10187 0/6477 3/3710 - - - - - - -
?/? c.461C>T r.(?) p.(Ala154Val) g.153063827C>T Copied from the Exome Variant Server SSR4_000017 1/10551 0/6726 1/3825 - - - - - - -
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