All transcript variants in gene PWWP2A

Information The variants shown are described using the NM_001130864.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.61G>T r.(?) p.(Gly21Cys) g.159546335C>A Copied from the Exome Variant Server PWWP2A_000047 36/7218 1/5084 35/2134
?/? c.225_226insCCG r.(?) p.(Pro75dup) g.159546170_159546171insCGG Copied from the Exome Variant Server PWWP2A_000046 14/6838 12/4824 2/2014
?/? c.243C>T r.(=) p.(=) g.159546153G>A Copied from the Exome Variant Server PWWP2A_000045 1/8920 1/6236 0/2684
?/? c.248A>G r.(?) p.(Glu83Gly) g.159546148T>C Copied from the Exome Variant Server PWWP2A_000044 1/9010 1/6300 0/2710
?/? c.349C>T r.(?) p.(Pro117Ser) g.159546047G>A Copied from the Exome Variant Server PWWP2A_000043 1/11412 1/7790 0/3622
?/? c.380C>T r.(?) p.(Pro127Leu) g.159546016G>A Copied from the Exome Variant Server PWWP2A_000042 1/11346 0/7798 1/3548
?/? c.383A>G r.(?) p.(Glu128Gly) g.159546013T>C Copied from the Exome Variant Server PWWP2A_000040 324/11358 251/7798 73/3560
?/? c.455C>T r.(?) p.(Thr152Met) g.159545941G>A Copied from the Exome Variant Server PWWP2A_000038 1/12098 1/8242 0/3856
?/? c.585-36T>G r.(=) p.(=) g.159521108A>C Copied from the Exome Variant Server PWWP2A_000036 6/11718 0/8118 6/3600
?/? c.585-33A>G r.(=) p.(=) g.159521105T>C Copied from the Exome Variant Server PWWP2A_000034 1/11738 0/8130 1/3608
?/? c.585-2del r.spl? p.? g.159521074del Copied from the Exome Variant Server PWWP2A_000032 1/11320 1/7800 0/3520
?/? c.656C>T r.(?) p.(Pro219Leu) g.159521001G>A Copied from the Exome Variant Server PWWP2A_000041 2/12114 2/8242 0/3872
?/? c.657G>A r.(=) p.(=) g.159521000C>T Copied from the Exome Variant Server PWWP2A_000039 5/12118 1/8246 4/3872
?/? c.706A>G r.(?) p.(Asn236Asp) g.159520951T>C Copied from the Exome Variant Server PWWP2A_000037 1/12256 1/8294 0/3962
?/? c.715G>C r.(?) p.(Val239Leu) g.159520942C>G Copied from the Exome Variant Server PWWP2A_000035 1/12256 1/8290 0/3966
?/? c.736G>A r.(?) p.(Val246Ile) g.159520921C>T Copied from the Exome Variant Server PWWP2A_000033 17/12244 0/8288 17/3956
?/? c.843A>G r.(=) p.(=) g.159520814T>C Copied from the Exome Variant Server PWWP2A_000031 1/12054 1/8256 0/3798
?/? c.852A>G r.(=) p.(=) g.159520805T>C Copied from the Exome Variant Server PWWP2A_000030 1/12014 0/8232 1/3782
?/? c.912A>G r.(=) p.(=) g.159520745T>C Copied from the Exome Variant Server PWWP2A_000029 1/11848 1/8180 0/3668
?/? c.925A>G r.(?) p.(Ile309Val) g.159520732T>C Copied from the Exome Variant Server PWWP2A_000028 1/11834 0/8172 1/3662
?/? c.996A>G r.(=) p.(=) g.159520661T>C Copied from the Exome Variant Server PWWP2A_000027 828/11828 764/8178 64/3650
?/? c.1100C>T r.(?) p.(Thr367Ile) g.159520557G>A Copied from the Exome Variant Server PWWP2A_000026 2/11804 0/8176 2/3628
?/? c.1116T>C r.(=) p.(=) g.159520541A>G Copied from the Exome Variant Server PWWP2A_000025 1/11848 1/8186 0/3662
?/? c.1148A>G r.(?) p.(Asn383Ser) g.159520509T>C Copied from the Exome Variant Server PWWP2A_000024 1/11860 0/8184 1/3676
?/? c.1155G>C r.(=) p.(=) g.159520502C>G Copied from the Exome Variant Server PWWP2A_000023 10/11860 0/8186 10/3674
?/? c.1172T>C r.(?) p.(Ile391Thr) g.159520485A>G Copied from the Exome Variant Server PWWP2A_000022 1/11888 1/8188 0/3700
?/? c.1174G>T r.(?) p.(Ala392Ser) g.159520483C>A Copied from the Exome Variant Server PWWP2A_000021 2/11890 0/8190 2/3700
?/? c.1278G>A r.(=) p.(=) g.159520379C>T Copied from the Exome Variant Server PWWP2A_000020 1/11870 1/8200 0/3670
?/? c.1334A>C r.(?) p.(Glu445Ala) g.159520323T>G Copied from the Exome Variant Server PWWP2A_000019 3/11908 3/8212 0/3696
?/? c.1352A>G r.(?) p.(Asn451Ser) g.159520305T>C Copied from the Exome Variant Server PWWP2A_000018 1/11930 0/8212 1/3718
?/? c.1368C>A r.(=) p.(=) g.159520289G>T Copied from the Exome Variant Server PWWP2A_000017 2/11938 0/8208 2/3730
?/? c.1382G>A r.(?) p.(Arg461Gln) g.159520275C>T Copied from the Exome Variant Server PWWP2A_000016 2/11944 2/8210 0/3734
?/? c.1383A>G r.(=) p.(=) g.159520274T>C Copied from the Exome Variant Server PWWP2A_000015 2/11946 0/8212 2/3734
?/? c.1424G>A r.(?) p.(Arg475His) g.159520233C>T Copied from the Exome Variant Server PWWP2A_000014 1/11980 0/8222 1/3758
?/? c.1443C>T r.(=) p.(=) g.159520214G>A Copied from the Exome Variant Server PWWP2A_000013 1/12092 0/8258 1/3834
?/? c.1565A>C r.(?) p.(Glu522Ala) g.159520092T>G Copied from the Exome Variant Server PWWP2A_000012 1/12050 0/8250 1/3800
?/? c.1588C>T r.(?) p.(Pro530Ser) g.159520069G>A Copied from the Exome Variant Server PWWP2A_000011 1/12070 1/8260 0/3810
?/? c.1644T>G r.(?) p.(Asp548Glu) g.159520013A>C Copied from the Exome Variant Server PWWP2A_000010 4/4566 4/3182 0/1384
?/? c.1701T>C r.(=) p.(=) g.159519956A>G Copied from the Exome Variant Server PWWP2A_000009 64/4566 0/3182 64/1384
?/? c.1704G>A r.(?) p.(Met568Ile) g.159519953C>T Copied from the Exome Variant Server PWWP2A_000008 1/4566 1/3182 0/1384
?/? c.1715A>G r.(?) p.(Gln572Arg) g.159519942T>C Copied from the Exome Variant Server PWWP2A_000007 8/4566 0/3182 8/1384
?/? c.1740T>C r.(=) p.(=) g.159519917A>G Copied from the Exome Variant Server PWWP2A_000006 1/4566 1/3182 0/1384
?/? c.1995C>T r.(=) p.(=) g.159519662G>A Copied from the Exome Variant Server PWWP2A_000005 5/4566 5/3182 0/1384
?/? c.2049C>T r.(=) p.(=) g.159519608G>A Copied from the Exome Variant Server PWWP2A_000004 2/4566 0/3182 2/1384
?/? c.2155C>T r.(?) p.(Arg719Cys) g.159519502G>A Copied from the Exome Variant Server PWWP2A_000003 1/4566 1/3182 0/1384
?/? c.2232C>T r.(=) p.(=) g.159519425G>A Copied from the Exome Variant Server PWWP2A_000002 9/4566 8/3182 1/1384
?/? c.*49C>T r.(=) p.(=) g.159519340G>A Copied from the Exome Variant Server PWWP2A_000001 51/4566 0/3182 51/1384
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