Unique variants in gene RIT2

Information The variants shown are described using the NM_002930.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-15G>A r.(=) p.(=) g.40695499C>T Copied from the Exome Variant Server RIT2_000035 313/13006 28/8600 285/4406
1 c.29C>A r.(?) p.(Ser10Tyr) g.40695456G>T Copied from the Exome Variant Server RIT2_000034 1/13006 1/8600 0/4406
1 c.47G>C r.(?) p.(Gly16Ala) g.40695438C>G Copied from the Exome Variant Server RIT2_000033 1/13006 0/8600 1/4406
1 c.49G>A r.(?) p.(Gly17Arg) g.40695436C>T Copied from the Exome Variant Server RIT2_000032 2/13006 2/8600 0/4406
1 c.104-50T>G r.(=) p.(=) g.40613882A>C Copied from the Exome Variant Server RIT2_000031 55/12972 50/8580 5/4392
1 c.104-30A>G r.(=) p.(=) g.40613862T>C Copied from the Exome Variant Server RIT2_000030 1/12998 0/8592 1/4406
1 c.104-23A>T r.(=) p.(=) g.40613855T>A Copied from the Exome Variant Server RIT2_000029 32/13000 23/8594 9/4406
1 c.104-8T>C r.(=) p.(=) g.40613840A>G Copied from the Exome Variant Server RIT2_000028 5422/13004 4506/8598 916/4406
1 c.108G>A r.(?) p.(Met36Ile) g.40613828C>T Copied from the Exome Variant Server RIT2_000027 1/13006 0/8600 1/4406
1 c.160+24G>A r.(=) p.(=) g.40613752C>T Copied from the Exome Variant Server RIT2_000026 1/13004 1/8598 0/4406
1 c.160+40A>G r.(=) p.(=) g.40613736T>C Copied from the Exome Variant Server RIT2_000025 4/13002 3/8596 1/4406
1 c.160+43C>G r.(=) p.(=) g.40613733G>C Copied from the Exome Variant Server RIT2_000024 1/13002 0/8596 1/4406
1 c.161-8T>C r.(=) p.(=) g.40554120A>G Copied from the Exome Variant Server RIT2_000023 877/13006 731/8600 146/4406
1 c.208T>C r.(=) p.(=) g.40554065A>G Copied from the Exome Variant Server RIT2_000022 1/13006 1/8600 0/4406
1 c.234+31C>G r.(=) p.(=) g.40554008G>C Copied from the Exome Variant Server RIT2_000021 5/13004 4/8598 1/4406
1 c.235-36A>G r.(=) p.(=) g.40503764T>C Copied from the Exome Variant Server RIT2_000020 523/12982 162/8590 361/4392
1 c.235-28A>G r.(=) p.(=) g.40503756T>C Copied from the Exome Variant Server RIT2_000019 7/13000 0/8598 7/4402
1 c.426+9C>T r.(=) p.(=) g.40503528G>A Copied from the Exome Variant Server RIT2_000018 137/13006 1/8600 136/4406
1 c.426+10G>A r.(=) p.(=) g.40503527C>T Copied from the Exome Variant Server RIT2_000017 5/13006 5/8600 0/4406
1 c.426+15T>C r.(=) p.(=) g.40503522A>G Copied from the Exome Variant Server RIT2_000016 1/13006 0/8600 1/4406
1 c.426+28C>T r.(=) p.(=) g.40503509G>A Copied from the Exome Variant Server RIT2_000015 1/13006 1/8600 0/4406
1 c.426+35_426+36del r.(=) p.(=) g.40503501_40503502del Copied from the Exome Variant Server RIT2_000014 4/12518 0/8254 4/4264
1 c.426+52A>G r.(=) p.(=) g.40503485T>C Copied from the Exome Variant Server RIT2_000013 47/5734 0/3982 47/1752
1 c.426+2803C>G r.(=) p.(=) g.40500734G>C Copied from the Exome Variant Server RIT2_000012 2/5734 0/3982 2/1752
1 c.427-17_427-15del r.(=) p.(=) g.40323700_40323702del Copied from the Exome Variant Server RIT2_000011 3/12368 1/8214 2/4154
1 c.440_442del r.(?) p.(Glu147del) g.40323670_40323672del Copied from the Exome Variant Server RIT2_000010 2/12502 0/8240 2/4262
1 c.459A>G r.(=) p.(=) g.40323653T>C Copied from the Exome Variant Server RIT2_000009 2/13006 0/8600 2/4406
1 c.512A>T r.(?) p.(Asp171Val) g.40323600T>A Copied from the Exome Variant Server RIT2_000008 1/13006 0/8600 1/4406
1 c.545G>A r.(?) p.(Arg182His) g.40323567C>T Copied from the Exome Variant Server RIT2_000007 157/13006 145/8600 12/4406
1 c.560T>C r.(?) p.(Met187Thr) g.40323552A>G Copied from the Exome Variant Server RIT2_000006 1/13006 0/8600 1/4406
1 c.615C>A r.(=) p.(=) g.40323497G>T Copied from the Exome Variant Server RIT2_000005 6397/13006 3106/8600 3291/4406
1 c.*2A>G r.(=) p.(=) g.40323456T>C Copied from the Exome Variant Server RIT2_000004 1/13006 1/8600 0/4406
1 c.*24C>A r.(=) p.(=) g.40323434G>T Copied from the Exome Variant Server RIT2_000003 60/13006 53/8600 7/4406
1 c.*25G>A r.(=) p.(=) g.40323433C>T Copied from the Exome Variant Server RIT2_000002 51/13006 1/8600 50/4406
1 c.*32G>T r.(=) p.(=) g.40323426C>A Copied from the Exome Variant Server RIT2_000001 1/13006 1/8600 0/4406
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