Full data view for gene RP2

Information The variants shown are described using the NM_006915.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-44G>C r.(=) p.(=) g.46696492G>C Copied from the Exome Variant Server RP2_000001 16/9466 0/5957 16/3509 - - - - - - -
?/? c.-19A>G r.(=) p.(=) g.46696517A>G Copied from the Exome Variant Server RP2_000002 1/9838 1/6228 0/3610 - - - - - - -
?/? c.51C>G r.(=) p.(=) g.46696586C>G Copied from the Exome Variant Server RP2_000003 1/10303 1/6531 0/3772 - - - - - - -
?/? c.67C>T r.(?) p.(Arg23Trp) g.46696602C>T Copied from the Exome Variant Server RP2_000004 1/10272 0/6518 1/3754 - - - - - - -
?/? c.88G>C r.(?) p.(Asp30His) g.46696623G>C Copied from the Exome Variant Server RP2_000005 1/10186 1/6453 0/3733 - - - - - - -
?/? c.102+13G>C r.(=) p.(=) g.46696650G>C Copied from the Exome Variant Server RP2_000006 1/9947 1/6297 0/3650 - - - - - - -
?/? c.102+19C>A r.(=) p.(=) g.46696656C>A Copied from the Exome Variant Server RP2_000007 1/9859 0/6249 1/3610 - - - - - - -
?/? c.102+46C>T r.(=) p.(=) g.46696683C>T Copied from the Exome Variant Server RP2_000008 13/9231 0/5829 13/3402 - - - - - - -
?/? c.121A>G r.(?) p.(Met41Val) g.46712929A>G Copied from the Exome Variant Server RP2_000009 2/10563 0/6728 2/3835 - - - - - - -
?/? c.123G>A r.(?) p.(Met41Ile) g.46712931G>A Copied from the Exome Variant Server RP2_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.168G>A r.(=) p.(=) g.46712976G>A Copied from the Exome Variant Server RP2_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.196G>A r.(?) p.(Asp66Asn) g.46713004G>A Copied from the Exome Variant Server RP2_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.233C>G r.(?) p.(Ser78Cys) g.46713041C>G Copied from the Exome Variant Server RP2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.259A>G r.(?) p.(Thr87Ala) g.46713067A>G Copied from the Exome Variant Server RP2_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.260C>T r.(?) p.(Thr87Ile) g.46713068C>T Copied from the Exome Variant Server RP2_000015 76/10563 0/6728 76/3835 - - - - - - -
?/? c.285C>G r.(=) p.(=) g.46713093C>G Copied from the Exome Variant Server RP2_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.323G>C r.(?) p.(Cys108Ser) g.46713131G>C Copied from the Exome Variant Server RP2_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.396C>G r.(=) p.(=) g.46713204C>G Copied from the Exome Variant Server RP2_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.438A>G r.(=) p.(=) g.46713246A>G Copied from the Exome Variant Server RP2_000022 3/10563 0/6728 3/3835 - - - - - - -
?/? c.481G>T r.(?) p.(Asp161Tyr) g.46713289G>T Copied from the Exome Variant Server RP2_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.506A>G r.(?) p.(Asn169Ser) g.46713314A>G Copied from the Exome Variant Server RP2_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.601A>G r.(?) p.(Ile201Val) g.46713409A>G Copied from the Exome Variant Server RP2_000019 51/10563 0/6728 51/3835 - - - - - - -
?/? c.606T>C r.(=) p.(=) g.46713414T>C Copied from the Exome Variant Server RP2_000021 54/10563 0/6728 54/3835 - - - - - - -
?/? c.613G>A r.(?) p.(Glu205Lys) g.46713421G>A Copied from the Exome Variant Server RP2_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.654A>C r.(?) p.(Arg218Ser) g.46713462A>C Copied from the Exome Variant Server RP2_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.46713504C>T Copied from the Exome Variant Server RP2_000026 2/10563 0/6728 2/3835 - - - - - - -
?/? c.697G>A r.(?) p.(Asp233Asn) g.46713505G>A Copied from the Exome Variant Server RP2_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.769-38G>A r.(=) p.(=) g.46719385G>A Copied from the Exome Variant Server RP2_000028 1/10552 1/6724 0/3828 - - - - - - -
?/? c.807A>G r.(=) p.(=) g.46719461A>G Copied from the Exome Variant Server RP2_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.844C>T r.(?) p.(Arg282Trp) g.46719498C>T Copied from the Exome Variant Server RP2_000030 235/10563 221/6728 14/3835 - - - - - - -
?/? c.884-22T>C r.(=) p.(=) g.46736918T>C Copied from the Exome Variant Server RP2_000031 3/10563 0/6728 3/3835 - - - - - - -
?/? c.898T>G r.(?) p.(Leu300Val) g.46736954T>G Copied from the Exome Variant Server RP2_000032 3/10563 3/6728 0/3835 - - - - - - -
?/? c.969+4C>G r.spl? p.? g.46737029C>G Copied from the Exome Variant Server RP2_000033 2/10563 2/6728 0/3835 - - - - - - -
?/? c.969+18C>G r.(=) p.(=) g.46737043C>G Copied from the Exome Variant Server RP2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.970-36T>C r.(=) p.(=) g.46739085T>C Copied from the Exome Variant Server RP2_000035 2/10479 2/6700 0/3779 - - - - - - -
?/? c.970-30_970-29del r.(=) p.(=) g.46739091_46739092del Copied from the Exome Variant Server RP2_000036 30/10101 18/6448 12/3653 - - - - - - -
?/? c.970-29del r.(=) p.(=) g.46739092del Copied from the Exome Variant Server RP2_000038 1065/10101 738/6448 327/3653 - - - - - - -
?/? c.970-29dup r.(=) p.(=) g.46739092dup Copied from the Exome Variant Server RP2_000037 84/10101 52/6448 32/3653 - - - - - - -
?/? c.1001C>A r.(?) p.(Ser334Tyr) g.46739152C>A Copied from the Exome Variant Server RP2_000039 3/10563 3/6728 0/3835 - - - - - - -
?/? c.*20A>G r.(=) p.(=) g.46739224A>G Copied from the Exome Variant Server RP2_000040 1/10563 0/6728 1/3835 - - - - - - -
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