Full data view for gene WIPF1

Information The variants shown are described using the NM_003387.4 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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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.-25A>T r.(=) p.(=) g.175450326T>A Copied from the Exome Variant Server WIPF1_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-24C>G r.(=) p.(=) g.175450325G>C Copied from the Exome Variant Server WIPF1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.16C>G r.(?) p.(Pro6Ala) g.175450286G>C Copied from the Exome Variant Server WIPF1_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.32C>T r.(?) p.(Pro11Leu) g.175450270G>A Copied from the Exome Variant Server WIPF1_000081 7/13006 0/8600 7/4406 - - - - - - -
?/? c.39G>A r.(=) p.(=) g.175450263C>T Copied from the Exome Variant Server WIPF1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.42G>A r.(=) p.(=) g.175450260C>T Copied from the Exome Variant Server WIPF1_000079 104/13006 0/8600 104/4406 - - - - - - -
?/? c.51+14C>A r.(=) p.(=) g.175450237G>T Copied from the Exome Variant Server WIPF1_000078 4/13006 0/8600 4/4406 - - - - - - -
?/? c.52-29G>A r.(=) p.(=) g.175446196C>T Copied from the Exome Variant Server WIPF1_000077 6/13006 0/8600 6/4406 - - - - - - -
?/? c.52-25A>G r.(=) p.(=) g.175446192T>C Copied from the Exome Variant Server WIPF1_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.56A>G r.(?) p.(Asn19Ser) g.175446163T>C Copied from the Exome Variant Server WIPF1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.78T>C r.(=) p.(=) g.175446141A>G Copied from the Exome Variant Server WIPF1_000074 29/13006 26/8600 3/4406 - - - - - - -
?/? c.100A>G r.(?) p.(Asn34Asp) g.175446119T>C Copied from the Exome Variant Server WIPF1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.122G>A r.(?) p.(Ser41Asn) g.175446097C>T Copied from the Exome Variant Server WIPF1_000072 2/13006 2/8600 0/4406 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.175446060G>A Copied from the Exome Variant Server WIPF1_000071 2/13006 0/8600 2/4406 - - - - - - -
?/? c.182-32G>A r.(=) p.(=) g.175440140C>T Copied from the Exome Variant Server WIPF1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.182-31_182-18del r.(=) p.(=) g.175440126_175440139del Copied from the Exome Variant Server WIPF1_000069 2/12518 1/8252 1/4266 - - - - - - -
?/? c.182-16G>A r.(=) p.(=) g.175440124C>T Copied from the Exome Variant Server WIPF1_000068 5/13006 5/8600 0/4406 - - - - - - -
?/? c.207C>T r.(=) p.(=) g.175440083G>A Copied from the Exome Variant Server WIPF1_000067 1/13004 0/8600 1/4404 - - - - - - -
?/? c.208G>A r.(?) p.(Gly70Ser) g.175440082C>T Copied from the Exome Variant Server WIPF1_000066 1/13004 1/8600 0/4404 - - - - - - -
?/? c.211G>A r.(?) p.(Gly71Ser) g.175440079C>T Copied from the Exome Variant Server WIPF1_000064 1/13004 0/8600 1/4404 - - - - - - -
?/? c.212G>A r.(?) p.(Gly71Asp) g.175440078C>T Copied from the Exome Variant Server WIPF1_000061 5/13004 5/8600 0/4404 - - - - - - -
?/? c.243C>T r.(=) p.(=) g.175440047G>A Copied from the Exome Variant Server WIPF1_000058 4/13006 4/8600 0/4406 - - - - - - -
?/? c.255_269del r.(?) p.(Gly86_Gly90del) g.175440021_175440035del Copied from the Exome Variant Server WIPF1_000056 109/12520 70/8254 39/4266 - - - - - - -
?/? c.271A>C r.(?) p.(Ser91Arg) g.175440019T>G Copied from the Exome Variant Server WIPF1_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.339C>G r.(=) p.(=) g.175439951G>C Copied from the Exome Variant Server WIPF1_000051 114/13006 0/8600 114/4406 - - - - - - -
?/? c.358+5G>A r.spl? p.? g.175439927C>T Copied from the Exome Variant Server WIPF1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.358+42C>T r.(=) p.(=) g.175439890G>A Copied from the Exome Variant Server WIPF1_000048 2/13006 2/8600 0/4406 - - - - - - -
?/? c.430C>A r.(?) p.(Pro144Thr) g.175437103G>T Copied from the Exome Variant Server WIPF1_000046 1/13002 1/8598 0/4404 - - - - - - -
?/? c.467G>A r.(?) p.(Gly156Asp) g.175437066C>T Copied from the Exome Variant Server WIPF1_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.473G>A r.(?) p.(Arg158Lys) g.175437060C>T Copied from the Exome Variant Server WIPF1_000060 11/13006 8/8600 3/4406 - - - - - - -
?/? c.520C>T r.(?) p.(Pro174Ser) g.175437013G>A Copied from the Exome Variant Server WIPF1_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.593C>T r.(?) p.(Pro198Leu) g.175436940G>A Copied from the Exome Variant Server WIPF1_000055 11999/13000 8242/8598 3757/4402 - - - - - - -
?/? c.600C>G r.(?) p.(Asn200Lys) g.175436933G>C Copied from the Exome Variant Server WIPF1_000053 1/12996 1/8596 0/4400 - - - - - - -
?/? c.613C>A r.(?) p.(Pro205Thr) g.175436920G>T Copied from the Exome Variant Server WIPF1_000052 1/12984 1/8584 0/4400 - - - - - - -
?/? c.633G>A r.(=) p.(=) g.175436900C>T Copied from the Exome Variant Server WIPF1_000050 1/12976 1/8582 0/4394 - - - - - - -
?/? c.642C>G r.(?) p.(Ser214Arg) g.175436891G>C Copied from the Exome Variant Server WIPF1_000047 1/12962 1/8578 0/4384 - - - - - - -
?/? c.645C>T r.(=) p.(=) g.175436888G>A Copied from the Exome Variant Server WIPF1_000045 7/12958 0/8576 7/4382 - - - - - - -
?/? c.650C>T r.(?) p.(Pro217Leu) g.175436883G>A Copied from the Exome Variant Server WIPF1_000044 1/12982 1/8590 0/4392 - - - - - - -
?/? c.661C>A r.(?) p.(Pro221Thr) g.175436872G>T Copied from the Exome Variant Server WIPF1_000043 3/12984 3/8592 0/4392 - - - - - - -
?/? c.694G>A r.(?) p.(Gly232Arg) g.175436839C>T Copied from the Exome Variant Server WIPF1_000042 2/12998 2/8596 0/4402 - - - - - - -
?/? c.698G>T r.(?) p.(Gly233Val) g.175436835C>A Copied from the Exome Variant Server WIPF1_000040 1/12998 1/8594 0/4404 - - - - - - -
?/? c.705A>G r.(?) p.(Ile235Met) g.175436828T>C Copied from the Exome Variant Server WIPF1_000038 1/13000 0/8596 1/4404 - - - - - - -
?/? c.715C>T r.(?) p.(Pro239Ser) g.175436818G>A Copied from the Exome Variant Server WIPF1_000036 1/12998 0/8592 1/4406 - - - - - - -
?/? c.716C>T r.(?) p.(Pro239Leu) g.175436817G>A Copied from the Exome Variant Server WIPF1_000034 1/12998 1/8592 0/4406 - - - - - - -
?/? c.776C>T r.(?) p.(Ala259Val) g.175436757G>A Copied from the Exome Variant Server WIPF1_000032 4/12994 4/8592 0/4402 - - - - - - -
?/? c.798A>G r.(=) p.(=) g.175436735T>C Copied from the Exome Variant Server WIPF1_000030 5/13002 0/8598 5/4404 - - - - - - -
?/? c.843G>A r.(=) p.(=) g.175436690C>T Copied from the Exome Variant Server WIPF1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.848C>G r.(?) p.(Pro283Arg) g.175436685G>C Copied from the Exome Variant Server WIPF1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.862_863insCTC r.(?) p.(Pro287dup) g.175436670_175436671insGAG Copied from the Exome Variant Server WIPF1_000024 2/12520 0/8254 2/4266 - - - - - - -
?/? c.874C>T r.(?) p.(Pro292Ser) g.175436659G>A Copied from the Exome Variant Server WIPF1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.889A>T r.(?) p.(Thr297Ser) g.175436644T>A Copied from the Exome Variant Server WIPF1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.957T>G r.(=) p.(=) g.175436576A>C Copied from the Exome Variant Server WIPF1_000018 624/13006 396/8600 228/4406 - - - - - - -
?/? c.978C>G r.(?) p.(Ser326Arg) g.175436555G>C Copied from the Exome Variant Server WIPF1_000016 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1037C>T r.(?) p.(Pro346Leu) g.175436496G>A Copied from the Exome Variant Server WIPF1_000041 22/13006 21/8600 1/4406 - - - - - - -
?/? c.1079C>T r.(?) p.(Pro360Leu) g.175436454G>A Copied from the Exome Variant Server WIPF1_000039 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1084A>G r.(?) p.(Ser362Gly) g.175436449T>C Copied from the Exome Variant Server WIPF1_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1110G>A r.(=) p.(=) g.175436423C>T Copied from the Exome Variant Server WIPF1_000035 1/12984 1/8584 0/4400 - - - - - - -
?/? c.1116G>A r.(=) p.(=) g.175436417C>T Copied from the Exome Variant Server WIPF1_000033 1/12964 1/8578 0/4386 - - - - - - -
?/? c.1129+50T>G r.(=) p.(=) g.175436354A>C Copied from the Exome Variant Server WIPF1_000031 1/12956 0/8570 1/4386 - - - - - - -
?/? c.1130-10T>C r.(=) p.(=) g.175432811A>G Copied from the Exome Variant Server WIPF1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1130-6C>T r.(=) p.(=) g.175432807G>A Copied from the Exome Variant Server WIPF1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1164C>T r.(=) p.(=) g.175432767G>A Copied from the Exome Variant Server WIPF1_000025 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1177C>T r.(?) p.(Arg393Trp) g.175432754G>A Copied from the Exome Variant Server WIPF1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1233G>T r.(?) p.(Arg411Ser) g.175432698C>A Copied from the Exome Variant Server WIPF1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1252C>G r.(?) p.(Leu418Val) g.175432679G>C Copied from the Exome Variant Server WIPF1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1289C>A r.(?) p.(Pro430Gln) g.175432642G>T Copied from the Exome Variant Server WIPF1_000017 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1295C>T r.(?) p.(Pro432Leu) g.175432636G>A Copied from the Exome Variant Server WIPF1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1296A>G r.(=) p.(=) g.175432635T>C Copied from the Exome Variant Server WIPF1_000014 73/13006 1/8600 72/4406 - - - - - - -
?/? c.1342+20C>T r.(=) p.(=) g.175432569G>A Copied from the Exome Variant Server WIPF1_000013 118/13004 0/8598 118/4406 - - - - - - -
?/? c.1342+30T>C r.(=) p.(=) g.175432559A>G Copied from the Exome Variant Server WIPF1_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1342+36A>G r.(=) p.(=) g.175432553T>C Copied from the Exome Variant Server WIPF1_000011 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1342+41C>T r.(=) p.(=) g.175432548G>A Copied from the Exome Variant Server WIPF1_000010 22/13004 0/8598 22/4406 - - - - - - -
?/? c.1343-43C>T r.(=) p.(=) g.175431954G>A Copied from the Exome Variant Server WIPF1_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1395A>G r.(=) p.(=) g.175431859T>C Copied from the Exome Variant Server WIPF1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1413G>A r.(=) p.(=) g.175431841C>T Copied from the Exome Variant Server WIPF1_000007 77/13006 1/8600 76/4406 - - - - - - -
?/? c.1446C>T r.(=) p.(=) g.175431808G>A Copied from the Exome Variant Server WIPF1_000006 134/13006 54/8600 80/4406 - - - - - - -
?/? c.1456+35G>A r.(=) p.(=) g.175431763C>T Copied from the Exome Variant Server WIPF1_000005 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1457-42G>A r.(=) p.(=) g.175427372C>T Copied from the Exome Variant Server WIPF1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1457-25A>G r.(=) p.(=) g.175427355T>C Copied from the Exome Variant Server WIPF1_000003 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1469G>A r.(?) p.(Arg490Gln) g.175427318C>T Copied from the Exome Variant Server WIPF1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1506G>A r.(=) p.(=) g.175427281C>T Copied from the Exome Variant Server WIPF1_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend