Unique variants in gene CISD1

Information The variants shown are described using the NM_018464.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-34A>G r.(=) p.(=) g.60029000A>G Copied from the Exome Variant Server CISD1_000001 11/13006 9/8600 2/4406
1 c.-30T>C r.(=) p.(=) g.60029004T>C Copied from the Exome Variant Server CISD1_000002 1/13006 0/8600 1/4406
1 c.-20G>A r.(=) p.(=) g.60029014G>A Copied from the Exome Variant Server CISD1_000003 1/13006 0/8600 1/4406
1 c.-4C>T r.(=) p.(=) g.60029030C>T Copied from the Exome Variant Server CISD1_000004 2/13006 1/8600 1/4406
1 c.2T>G r.? p.? g.60029035T>G Copied from the Exome Variant Server CISD1_000005 1/13006 1/8600 0/4406
1 c.31+6G>A r.(=) p.(=) g.60029070G>A Copied from the Exome Variant Server CISD1_000006 1/13006 0/8600 1/4406
1 c.31+38C>T r.(=) p.(=) g.60029102C>T Copied from the Exome Variant Server CISD1_000008 1/13006 1/8600 0/4406
1 c.32-46G>A r.(=) p.(=) g.60036831G>A Copied from the Exome Variant Server CISD1_000010 2/13002 0/8598 2/4404
1 c.101T>G r.(?) p.(Phe34Cys) g.60036946T>G Copied from the Exome Variant Server CISD1_000012 1/13006 0/8600 1/4406
1 c.138C>A r.(?) p.(Asn46Lys) g.60036983C>A Copied from the Exome Variant Server CISD1_000013 1/13006 1/8600 0/4406
1 c.212A>G r.(?) p.(Tyr71Cys) g.60037057A>G Copied from the Exome Variant Server CISD1_000014 1/13006 1/8600 0/4406
1 c.237+25A>C r.(=) p.(=) g.60037107A>C Copied from the Exome Variant Server CISD1_000015 3/13006 0/8600 3/4406
1 c.238-52del r.(=) p.(=) g.60047269del Copied from the Exome Variant Server CISD1_000016 1394/12518 1253/8254 141/4264
1 c.238-37_238-33del r.(=) p.(=) g.60047284_60047288del Copied from the Exome Variant Server CISD1_000017 9/12518 4/8254 5/4264
1 c.284G>A r.(?) p.(Gly95Glu) g.60047367G>A Copied from the Exome Variant Server CISD1_000018 1/13006 0/8600 1/4406
1 c.312G>C r.(?) p.(Lys104Asn) g.60047395G>C Copied from the Exome Variant Server CISD1_000019 1/13006 1/8600 0/4406
1 c.*9_*10del r.(=) p.(=) g.60047419_60047420del Copied from the Exome Variant Server CISD1_000020 1/12518 1/8254 0/4264
1 c.*22A>G r.(=) p.(=) g.60047432A>G Copied from the Exome Variant Server CISD1_000007 6/13006 0/8600 6/4406
1 c.*33C>T r.(=) p.(=) g.60047443C>T Copied from the Exome Variant Server CISD1_000009 1/13004 1/8598 0/4406
1 c.*44C>G r.(=) p.(=) g.60047454C>G Copied from the Exome Variant Server CISD1_000011 2/13002 0/8596 2/4406
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