Unique variants in gene GJC2

Information The variants shown are described using the NM_020435.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.51C>T r.(=) p.(=) g.228345510C>T Copied from the Exome Variant Server GJC2_000001 3/12962 0/8576 3/4386
1 c.56A>G r.(?) p.(His19Arg) g.228345515A>G Copied from the Exome Variant Server GJC2_000002 1/12976 0/8586 1/4390
1 c.108C>T r.(=) p.(=) g.228345567C>T Copied from the Exome Variant Server GJC2_000003 151/12998 0/8600 151/4398
1 c.121G>A r.(?) p.(Val41Met) g.228345580G>A Copied from the Exome Variant Server GJC2_000004 1/13004 0/8600 1/4404
1 c.147C>T r.(=) p.(=) g.228345606C>T Copied from the Exome Variant Server GJC2_000005 6/13006 4/8600 2/4406
1 c.175C>A r.(=) p.(=) g.228345634C>A Copied from the Exome Variant Server GJC2_000006 2/13006 2/8600 0/4406
1 c.180G>A r.(=) p.(=) g.228345639G>A Copied from the Exome Variant Server GJC2_000007 1/13006 1/8600 0/4406
1 c.241G>A r.(?) p.(Val81Ile) g.228345700G>A Copied from the Exome Variant Server GJC2_000008 1/13006 1/8600 0/4406
1 c.251T>C r.(?) p.(Ile84Thr) g.228345710T>C Copied from the Exome Variant Server GJC2_000009 1/13006 1/8600 0/4406
1 c.285G>A r.(=) p.(=) g.228345744G>A Copied from the Exome Variant Server GJC2_000010 2/13002 2/8596 0/4406
1 c.300C>A r.(?) p.(His100Gln) g.228345759C>A Copied from the Exome Variant Server GJC2_000011 1/12996 1/8594 0/4402
1 c.302G>T r.(?) p.(Arg101Leu) g.228345761G>T Copied from the Exome Variant Server GJC2_000012 1/12990 1/8590 0/4400
1 c.303C>T r.(=) p.(=) g.228345762C>T Copied from the Exome Variant Server GJC2_000013 1/12990 1/8590 0/4400
1 c.311G>A r.(?) p.(Arg104His) g.228345770G>A Copied from the Exome Variant Server GJC2_000014 1/12974 1/8582 0/4392
1 c.364_365insT r.(?) p.(Arg122Leufs*16) g.228345823_228345824insT Copied from the Exome Variant Server GJC2_000015 35/3524 4/2474 31/1050
1 c.454_459del r.(?) p.(Glu157_Glu158del) g.228345913_228345918del Copied from the Exome Variant Server GJC2_000016 15/7730 11/5192 4/2538
1 c.457_459del r.(?) p.(Glu158del) g.228345916_228345918del Copied from the Exome Variant Server GJC2_000017 289/7730 204/5192 85/2538
1 c.556G>T r.(?) p.(Gly186Cys) g.228346015G>T Copied from the Exome Variant Server GJC2_000018 4/12260 4/8072 0/4188
1 c.575C>G r.(?) p.(Pro192Arg) g.228346034C>G Copied from the Exome Variant Server GJC2_000019 12/12534 12/8266 0/4268
1 c.594C>T r.(=) p.(=) g.228346053C>T Copied from the Exome Variant Server GJC2_000020 387/12916 341/8542 46/4374
1 c.649C>T r.(=) p.(=) g.228346108C>T Copied from the Exome Variant Server GJC2_000021 1/13004 0/8598 1/4406
1 c.716T>C r.(?) p.(Val239Ala) g.228346175T>C Copied from the Exome Variant Server GJC2_000022 1/13006 1/8600 0/4406
1 c.802C>T r.(=) p.(=) g.228346261C>T Copied from the Exome Variant Server GJC2_000023 1/13006 0/8600 1/4406
1 c.1223G>A r.(?) p.(Arg408Gln) g.228346682G>A Copied from the Exome Variant Server GJC2_000024 1/8280 0/5460 1/2820
1 c.*5G>T r.(=) p.(=) g.228346784G>T Copied from the Exome Variant Server GJC2_000025 52/8952 0/5796 52/3156
1 c.*51G>A r.(=) p.(=) g.228346830G>A Copied from the Exome Variant Server GJC2_000026 1/9150 1/5922 0/3228
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