Full data view for gene ALG13

Information The variants shown are described using the NM_018466.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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>A r.(=) p.(=) g.110924420G>A Copied from the Exome Variant Server ALG13_000001 13/10563 0/6728 13/3835 - - - - - - -
?/? c.-14G>A r.(=) p.(=) g.110924433G>A Copied from the Exome Variant Server ALG13_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-9A>G r.(=) p.(=) g.110924438A>G Copied from the Exome Variant Server ALG13_000003 6/10563 3/6728 3/3835 - - - - - - -
?/? c.-7C>T r.(=) p.(=) g.110924440C>T Copied from the Exome Variant Server ALG13_000004 3/10563 3/6728 0/3835 - - - - - - -
?/? c.13T>C r.(?) p.(Phe5Leu) g.110924459T>C Copied from the Exome Variant Server ALG13_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.40G>A r.(?) p.(Asp14Asn) g.110924486G>A Copied from the Exome Variant Server ALG13_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.81+39C>G r.(=) p.(=) g.110924566C>G Copied from the Exome Variant Server ALG13_000007 1/10559 1/6725 0/3834 - - - - - - -
?/? c.82-29G>C r.(=) p.(=) g.110925331G>C Copied from the Exome Variant Server ALG13_000008 2/10563 0/6728 2/3835 - - - - - - -
?/? c.104A>G r.(?) p.(Asn35Ser) g.110925382A>G Copied from the Exome Variant Server ALG13_000009 9/10563 0/6728 9/3835 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.110925428C>T Copied from the Exome Variant Server ALG13_000010 12/10563 0/6728 12/3835 - - - - - - -
?/? c.155G>A r.(?) p.(Ser52Asn) g.110925433G>A Copied from the Exome Variant Server ALG13_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.183C>T r.(=) p.(=) g.110925461C>T Copied from the Exome Variant Server ALG13_000012 113/10563 109/6728 4/3835 - - - - - - -
?/? c.244+30G>T r.(=) p.(=) g.110925552G>T Copied from the Exome Variant Server ALG13_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.110928236C>T Copied from the Exome Variant Server ALG13_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.371A>G r.(?) p.(Tyr124Cys) g.110928319A>G Copied from the Exome Variant Server ALG13_000015 5/10563 0/6728 5/3835 - - - - - - -
?/? c.383+1029A>G r.(=) p.(=) g.110929360A>G Copied from the Exome Variant Server ALG13_000016 27/3600 1/2391 26/1209 - - - - - - -
?/? c.383+1106A>G r.(=) p.(=) g.110929437A>G Copied from the Exome Variant Server ALG13_000017 1/3599 1/2390 0/1209 - - - - - - -
?/? c.384-35C>T r.(=) p.(=) g.110931080C>T Copied from the Exome Variant Server ALG13_000018 7/10447 0/6646 7/3801 - - - - - - -
?/? c.439C>T r.(?) p.(Pro147Ser) g.110931170C>T Copied from the Exome Variant Server ALG13_000019 1/10559 1/6727 0/3832 - - - - - - -
?/? c.*31C>T r.(=) p.(=) g.110931260C>T Copied from the Exome Variant Server ALG13_000020 5/10266 0/6531 5/3735 - - - - - - -
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