Unique variants in gene RIT1

Information The variants shown are described using the NM_006912.5 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-21G>C r.(=) p.(=) g.155880573C>G Copied from the Exome Variant Server RIT1_000023 10343/13006 7926/8600 2417/4406
1 c.38G>A r.(?) p.(Ser13Asn) g.155880515C>T Copied from the Exome Variant Server RIT1_000021 3/13006 0/8600 3/4406
1 c.106+34G>A r.(=) p.(=) g.155880413C>T Copied from the Exome Variant Server RIT1_000033 1/13006 0/8600 1/4406
1 c.107-25T>G r.(=) p.(=) g.155880322A>C Copied from the Exome Variant Server RIT1_000032 1/13006 1/8600 0/4406
1 c.163+12C>A r.(=) p.(=) g.155880229G>T Copied from the Exome Variant Server RIT1_000031 1/13006 0/8600 1/4406
1 c.231T>C r.(=) p.(=) g.155874528A>G Copied from the Exome Variant Server RIT1_000030 1/13006 0/8600 1/4406
1 c.237+10C>A r.(=) p.(=) g.155874512G>T Copied from the Exome Variant Server RIT1_000029 2/13006 2/8600 0/4406
1 c.237+33T>A r.(=) p.(=) g.155874489A>T Copied from the Exome Variant Server RIT1_000028 1/13006 0/8600 1/4406
1 c.238-33C>T r.(=) p.(=) g.155874326G>A Copied from the Exome Variant Server RIT1_000027 1/13006 1/8600 0/4406
1 c.238-32G>A r.(=) p.(=) g.155874325C>T Copied from the Exome Variant Server RIT1_000026 18/13006 17/8600 1/4406
1 c.238-24A>G r.(=) p.(=) g.155874317T>C Copied from the Exome Variant Server RIT1_000025 1/13006 1/8600 0/4406
1 c.238-23T>C r.(=) p.(=) g.155874316A>G Copied from the Exome Variant Server RIT1_000024 1/13006 0/8600 1/4406
1 c.291C>A r.(=) p.(=) g.155874240G>T Copied from the Exome Variant Server RIT1_000022 1/13006 0/8600 1/4406
1 c.300C>T r.(=) p.(=) g.155874231G>A Copied from the Exome Variant Server RIT1_000020 1/13006 1/8600 0/4406
1 c.309G>C r.(=) p.(=) g.155874222C>G Copied from the Exome Variant Server RIT1_000019 1/13006 1/8600 0/4406
1 c.334C>T r.(?) p.(Arg112Cys) g.155874197G>A Copied from the Exome Variant Server RIT1_000018 1/13006 0/8600 1/4406
1 c.375C>T r.(=) p.(=) g.155874156G>A Copied from the Exome Variant Server RIT1_000017 116/13006 1/8600 115/4406
1 c.429+36A>G r.(=) p.(=) g.155874066T>C Copied from the Exome Variant Server RIT1_000016 1/13006 0/8600 1/4406
1 c.430-7C>T r.(=) p.(=) g.155870416G>A Copied from the Exome Variant Server RIT1_000015 10319/13006 7914/8600 2405/4406
1 c.498A>C r.(=) p.(=) g.155870341T>G Copied from the Exome Variant Server RIT1_000014 1/13006 1/8600 0/4406
1 c.516T>C r.(=) p.(=) g.155870323A>G Copied from the Exome Variant Server RIT1_000013 1/13006 0/8600 1/4406
1 c.540G>A r.(=) p.(=) g.155870299C>T Copied from the Exome Variant Server RIT1_000012 1/13006 1/8600 0/4406
1 c.575C>T r.(?) p.(Ala192Val) g.155870264G>A Copied from the Exome Variant Server RIT1_000011 1/13006 1/8600 0/4406
1 c.602A>G r.(?) p.(Asn201Ser) g.155870237T>C Copied from the Exome Variant Server RIT1_000010 1/13006 1/8600 0/4406
1 c.603C>T r.(=) p.(=) g.155870236G>A Copied from the Exome Variant Server RIT1_000009 1/13006 1/8600 0/4406
1 c.609A>G r.(=) p.(=) g.155870230T>C Copied from the Exome Variant Server RIT1_000008 1/13006 1/8600 0/4406
1 c.617G>C r.(?) p.(Arg206Thr) g.155870222C>G Copied from the Exome Variant Server RIT1_000007 1/13006 0/8600 1/4406
1 c.644_647del r.(?) p.(Lys215Ilefs*3) g.155870192_155870195del Copied from the Exome Variant Server RIT1_000006 5/12520 3/8254 2/4266
1 c.653T>C r.(?) p.(Val218Ala) g.155870186A>G Copied from the Exome Variant Server RIT1_000005 1/13006 0/8600 1/4406
1 c.655A>C r.(?) p.(Thr219Pro) g.155870184T>G Copied from the Exome Variant Server RIT1_000004 1/13006 0/8600 1/4406
1 c.*4del r.(=) p.(=) g.155870175del Copied from the Exome Variant Server RIT1_000003 1/12520 1/8254 0/4266
1 c.*9T>C r.(=) p.(=) g.155870170A>G Copied from the Exome Variant Server RIT1_000002 1/13006 1/8600 0/4406
1 c.*25G>A r.(=) p.(=) g.155870154C>T Copied from the Exome Variant Server RIT1_000001 3/13006 3/8600 0/4406
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