Unique variants in gene PRR13

Information The variants shown are described using the NM_018457.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-20-12C>G r.(=) p.(=) g.53836467C>G Copied from the Exome Variant Server PRR13_000001 18/13006 15/8600 3/4406
1 c.-20-8_-20-6del r.(=) p.(=) g.53836471_53836473del Copied from the Exome Variant Server PRR13_000002 86/12518 51/8254 35/4264
1 c.19+16T>C r.(=) p.(=) g.53836533T>C Copied from the Exome Variant Server PRR13_000004 14/13006 0/8600 14/4406
1 c.19+27C>T r.(=) p.(=) g.53836544C>T Copied from the Exome Variant Server PRR13_000006 1/13006 1/8600 0/4406
1 c.19+60G>A r.(=) p.(=) g.53836577G>A Copied from the Exome Variant Server PRR13_000008 71/4566 64/3182 7/1384
1 c.123_125del r.(?) p.(Pro45del) g.53837278_53837280del Copied from the Exome Variant Server PRR13_000010 25/8726 18/6072 7/2654
1 c.277C>T r.(?) p.(Pro93Ser) g.53837432C>T Copied from the Exome Variant Server PRR13_000003 1/13004 1/8600 0/4404
1 c.303A>C r.(=) p.(=) g.53837458A>C Copied from the Exome Variant Server PRR13_000005 9/13006 8/8600 1/4406
1 c.307G>C r.(?) p.(Val103Leu) g.53837462G>C Copied from the Exome Variant Server PRR13_000007 1/13006 1/8600 0/4406
1 c.350A>T r.(?) p.(His117Leu) g.53837505A>T Copied from the Exome Variant Server PRR13_000009 1/13004 1/8598 0/4406
1 c.377A>G r.(?) p.(His126Arg) g.53837532A>G Copied from the Exome Variant Server PRR13_000011 2/13006 0/8600 2/4406
1 c.402+44_402+45del r.(=) p.(=) g.53837601_53837602del Copied from the Exome Variant Server PRR13_000012 1/12462 1/8222 0/4240
1 c.403-43A>C r.(=) p.(=) g.53839756A>C Copied from the Exome Variant Server PRR13_000013 1/13006 1/8600 0/4406
1 c.403-28_403-22del r.(=) p.(=) g.53839771_53839777del Copied from the Exome Variant Server PRR13_000014 109/12518 93/8254 16/4264
1 c.403-28_403-22dup r.(=) p.(=) g.53839771_53839777dup Copied from the Exome Variant Server PRR13_000015 3198/12518 1342/8254 1856/4264
1 c.*32A>G r.(=) p.(=) g.53839875A>G Copied from the Exome Variant Server PRR13_000016 1/13002 1/8596 0/4406
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