Unique variants in gene PLCXD1

Information The variants shown are described using the NM_018390.3 transcript reference sequence.

155 entries on 2 pages. Showing entries 1 - 100.
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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.-21-18C>T r.(=) p.(=) g.200816C>T Copied from the Exome Variant Server PLCXD1_000001 1/12998 1/8592 0/4406
1 c.-21G>A r.(=) p.(=) g.200834G>A Copied from the Exome Variant Server PLCXD1_000002 1/12998 1/8592 0/4406
1 c.6T>C r.(=) p.(=) g.200860T>C Copied from the Exome Variant Server PLCXD1_000003 10384/12998 6348/8592 4036/4406
1 c.8G>C r.(?) p.(Gly3Ala) g.200862G>C Copied from the Exome Variant Server PLCXD1_000004 2/12998 0/8592 2/4406
1 c.25A>G r.(?) p.(Asn9Asp) g.200879A>G Copied from the Exome Variant Server PLCXD1_000005 1/12998 0/8592 1/4406
1 c.47G>A r.(?) p.(Cys16Tyr) g.200901G>A Copied from the Exome Variant Server PLCXD1_000006 1/12998 1/8592 0/4406
1 c.60C>T r.(=) p.(=) g.200914C>T Copied from the Exome Variant Server PLCXD1_000007 5/12998 0/8592 5/4406
1 c.67T>C r.(?) p.(Trp23Arg) g.200921T>C Copied from the Exome Variant Server PLCXD1_000008 3/12998 3/8592 0/4406
1 c.75G>A r.(=) p.(=) g.200929G>A Copied from the Exome Variant Server PLCXD1_000009 1/12998 0/8592 1/4406
1 c.85C>T r.(?) p.(Pro29Ser) g.200939C>T Copied from the Exome Variant Server PLCXD1_000010 81/12998 74/8592 7/4406
1 c.88C>T r.(?) p.(Arg30Trp) g.200942C>T Copied from the Exome Variant Server PLCXD1_000011 1/12998 0/8592 1/4406
1 c.89G>A r.(?) p.(Arg30Gln) g.200943G>A Copied from the Exome Variant Server PLCXD1_000012 1/12998 0/8592 1/4406
1 c.107T>G r.(?) p.(Leu36Arg) g.200961T>G Copied from the Exome Variant Server PLCXD1_000013 1/12998 0/8592 1/4406
1 c.127+46C>T r.(=) p.(=) g.201027C>T Copied from the Exome Variant Server PLCXD1_000014 1/12998 0/8592 1/4406
1 c.127+47G>A r.(=) p.(=) g.201028G>A Copied from the Exome Variant Server PLCXD1_000015 2/12998 0/8592 2/4406
1 c.128-51T>C r.(=) p.(=) g.205349T>C Copied from the Exome Variant Server PLCXD1_000016 1/12998 0/8592 1/4406
1 c.128-42C>T r.(=) p.(=) g.205358C>T Copied from the Exome Variant Server PLCXD1_000017 1/12998 1/8592 0/4406
1 c.128-36C>T r.(=) p.(=) g.205364C>T Copied from the Exome Variant Server PLCXD1_000018 1/12998 1/8592 0/4406
1 c.128-35_128-33del r.(=) p.(=) g.205365_205367del Copied from the Exome Variant Server PLCXD1_000019 3/12504 0/8246 3/4258
1 c.128-27A>G r.(=) p.(=) g.205373A>G Copied from the Exome Variant Server PLCXD1_000020 6987/12998 5777/8592 1210/4406
1 c.128-22C>T r.(=) p.(=) g.205378C>T Copied from the Exome Variant Server PLCXD1_000021 53/12998 49/8592 4/4406
1 c.128-19G>C r.(=) p.(=) g.205381G>C Copied from the Exome Variant Server PLCXD1_000022 1/12998 1/8592 0/4406
1 c.128-17G>A r.(=) p.(=) g.205383G>A Copied from the Exome Variant Server PLCXD1_000023 204/12998 1/8592 203/4406
1 c.129G>A r.(=) p.(=) g.205401G>A Copied from the Exome Variant Server PLCXD1_000024 2/12998 0/8592 2/4406
1 c.137A>G r.(?) p.(Asp46Gly) g.205409A>G Copied from the Exome Variant Server PLCXD1_000025 30/12998 28/8592 2/4406
1 c.147G>C r.(=) p.(=) g.205419G>C Copied from the Exome Variant Server PLCXD1_000026 1/12998 0/8592 1/4406
1 c.176C>A r.(?) p.(Ser59*) g.205448C>A Copied from the Exome Variant Server PLCXD1_000027 1/12998 0/8592 1/4406
1 c.191G>A r.(?) p.(Arg64Gln) g.205463G>A Copied from the Exome Variant Server PLCXD1_000028 1/12998 1/8592 0/4406
1 c.198G>A r.(=) p.(=) g.205470G>A Copied from the Exome Variant Server PLCXD1_000029 1/12998 1/8592 0/4406
1 c.205C>T r.(=) p.(=) g.205477C>T Copied from the Exome Variant Server PLCXD1_000030 4/12998 0/8592 4/4406
1 c.214G>C r.(?) p.(Ala72Pro) g.205486G>C Copied from the Exome Variant Server PLCXD1_000031 1/12998 1/8592 0/4406
1 c.232C>T r.(?) p.(Arg78Cys) g.205504C>T Copied from the Exome Variant Server PLCXD1_000032 4/12998 3/8592 1/4406
1 c.236C>G r.(?) p.(Pro79Arg) g.205508C>G Copied from the Exome Variant Server PLCXD1_000033 1/12998 1/8592 0/4406
1 c.241G>A r.(?) p.(Val81Met) g.205513G>A Copied from the Exome Variant Server PLCXD1_000034 2/12998 0/8592 2/4406
1 c.256G>A r.(?) p.(Val86Ile) g.205528G>A Copied from the Exome Variant Server PLCXD1_000035 1/12998 0/8592 1/4406
1 c.264+15C>T r.(=) p.(=) g.205551C>T Copied from the Exome Variant Server PLCXD1_000036 36/12998 0/8592 36/4406
1 c.264+16C>T r.(=) p.(=) g.205552C>T Copied from the Exome Variant Server PLCXD1_000037 1/12998 1/8592 0/4406
1 c.265-44G>A r.(=) p.(=) g.207271G>A Copied from the Exome Variant Server PLCXD1_000038 4/12998 1/8592 3/4406
1 c.265-42G>T r.(=) p.(=) g.207273G>T Copied from the Exome Variant Server PLCXD1_000039 1/12998 1/8592 0/4406
1 c.268C>T r.(=) p.(=) g.207318C>T Copied from the Exome Variant Server PLCXD1_000040 1/12998 1/8592 0/4406
1 c.274G>A r.(?) p.(Val92Ile) g.207324G>A Copied from the Exome Variant Server PLCXD1_000041 2/12998 1/8592 1/4406
1 c.296G>C r.(?) p.(Gly99Ala) g.207346G>C Copied from the Exome Variant Server PLCXD1_000042 1/12998 1/8592 0/4406
1 c.302G>A r.(?) p.(Arg101Gln) g.207352G>A Copied from the Exome Variant Server PLCXD1_000043 1/12998 1/8592 0/4406
1 c.312C>T r.(=) p.(=) g.207362C>T Copied from the Exome Variant Server PLCXD1_000044 6655/12998 5047/8592 1608/4406
1 c.317G>A r.(?) p.(Arg106Gln) g.207367G>A Copied from the Exome Variant Server PLCXD1_000045 2/12998 2/8592 0/4406
1 c.361G>C r.(?) p.(Val121Leu) g.207411G>C Copied from the Exome Variant Server PLCXD1_000046 1/12998 1/8592 0/4406
1 c.366T>C r.(=) p.(=) g.207416T>C Copied from the Exome Variant Server PLCXD1_000047 1/12998 1/8592 0/4406
1 c.374A>C r.(?) p.(Tyr125Ser) g.207424A>C Copied from the Exome Variant Server PLCXD1_000048 1/12998 0/8592 1/4406
1 c.380C>T r.(?) p.(Thr127Met) g.207430C>T Copied from the Exome Variant Server PLCXD1_000049 4/12998 3/8592 1/4406
1 c.393+5G>A r.spl? p.? g.207448G>A Copied from the Exome Variant Server PLCXD1_000050 1/12996 0/8590 1/4406
1 c.393+8C>T r.(=) p.(=) g.207451C>T Copied from the Exome Variant Server PLCXD1_000051 6180/12996 2646/8590 3534/4406
1 c.393+24G>A r.(=) p.(=) g.207467G>A Copied from the Exome Variant Server PLCXD1_000052 71/12998 0/8592 71/4406
1 c.393+26A>G r.(=) p.(=) g.207469A>G Copied from the Exome Variant Server PLCXD1_000053 346/12998 2/8592 344/4406
1 c.393+28T>G r.(=) p.(=) g.207471T>G Copied from the Exome Variant Server PLCXD1_000054 233/12998 1/8592 232/4406
1 c.393+45G>A r.(=) p.(=) g.207488G>A Copied from the Exome Variant Server PLCXD1_000055 1/12996 1/8592 0/4404
1 c.393+49G>A r.(=) p.(=) g.207492G>A Copied from the Exome Variant Server PLCXD1_000056 5/12994 3/8590 2/4404
1 c.398_401del r.(?) p.(Leu134Argfs*25) g.208170_208173del Copied from the Exome Variant Server PLCXD1_000057 1/12504 1/8246 0/4258
1 c.404C>T r.(?) p.(Thr135Met) g.208176C>T Copied from the Exome Variant Server PLCXD1_000058 3/12998 0/8592 3/4406
1 c.414G>A r.(=) p.(=) g.208186G>A Copied from the Exome Variant Server PLCXD1_000059 1/12998 0/8592 1/4406
1 c.428G>A r.(?) p.(Arg143Gln) g.208200G>A Copied from the Exome Variant Server PLCXD1_000060 3/12998 2/8592 1/4406
1 c.433C>A r.(?) p.(Pro145Thr) g.208205C>A Copied from the Exome Variant Server PLCXD1_000061 2/12998 2/8592 0/4406
1 c.436C>T r.(?) p.(Arg146Cys) g.208208C>T Copied from the Exome Variant Server PLCXD1_000062 1/12998 0/8592 1/4406
1 c.437G>A r.(?) p.(Arg146His) g.208209G>A Copied from the Exome Variant Server PLCXD1_000063 18/12998 17/8592 1/4406
1 c.451C>T r.(=) p.(=) g.208223C>T Copied from the Exome Variant Server PLCXD1_000064 1/12998 1/8592 0/4406
1 c.468C>T r.(=) p.(=) g.208240C>T Copied from the Exome Variant Server PLCXD1_000065 2/12998 2/8592 0/4406
1 c.481G>A r.(?) p.(Glu161Lys) g.208253G>A Copied from the Exome Variant Server PLCXD1_000066 1/12998 1/8592 0/4406
1 c.492C>T r.(=) p.(=) g.208264C>T Copied from the Exome Variant Server PLCXD1_000067 8/12998 0/8592 8/4406
1 c.504C>T r.(=) p.(=) g.208276C>T Copied from the Exome Variant Server PLCXD1_000068 4/12998 4/8592 0/4406
1 c.505G>A r.(?) p.(Ala169Thr) g.208277G>A Copied from the Exome Variant Server PLCXD1_000069 35/12998 0/8592 35/4406
1 c.512T>C r.(?) p.(Ile171Thr) g.208284T>C Copied from the Exome Variant Server PLCXD1_000070 15/12998 15/8592 0/4406
1 c.513C>G r.(?) p.(Ile171Met) g.208285C>G Copied from the Exome Variant Server PLCXD1_000071 1/12998 1/8592 0/4406
1 c.520A>C r.(?) p.(Ile174Leu) g.208292A>C Copied from the Exome Variant Server PLCXD1_000072 13/12998 12/8592 1/4406
1 c.525C>T r.(=) p.(=) g.208297C>T Copied from the Exome Variant Server PLCXD1_000073 2/12998 2/8592 0/4406
1 c.544C>T r.(?) p.(Arg182Cys) g.208316C>T Copied from the Exome Variant Server PLCXD1_000074 5/12998 0/8592 5/4406
1 c.547G>T r.(?) p.(Gly183Trp) g.208319G>T Copied from the Exome Variant Server PLCXD1_000075 2/12998 1/8592 1/4406
1 c.549+10G>A r.(=) p.(=) g.208331G>A Copied from the Exome Variant Server PLCXD1_000076 2/12998 1/8592 1/4406
1 c.549+21C>T r.(=) p.(=) g.208342C>T Copied from the Exome Variant Server PLCXD1_000077 1/12998 0/8592 1/4406
1 c.549+22G>A r.(=) p.(=) g.208343G>A Copied from the Exome Variant Server PLCXD1_000078 16/12998 16/8592 0/4406
1 c.549+26G>A r.(=) p.(=) g.208347G>A Copied from the Exome Variant Server PLCXD1_000079 2/12998 2/8592 0/4406
1 c.549+34C>T r.(=) p.(=) g.208355C>T Copied from the Exome Variant Server PLCXD1_000080 4/12998 3/8592 1/4406
1 c.549+35G>C r.(=) p.(=) g.208356G>C Copied from the Exome Variant Server PLCXD1_000081 1/12998 1/8592 0/4406
1 c.549+36G>A r.(=) p.(=) g.208357G>A Copied from the Exome Variant Server PLCXD1_000082 1/12998 0/8592 1/4406
1 c.549+49G>A r.(=) p.(=) g.208370G>A Copied from the Exome Variant Server PLCXD1_000083 2/12998 1/8592 1/4406
1 c.550-50C>T r.(=) p.(=) g.209652C>T Copied from the Exome Variant Server PLCXD1_000084 93/12996 1/8590 92/4406
1 c.550-26C>A r.(=) p.(=) g.209676C>A Copied from the Exome Variant Server PLCXD1_000085 1/12998 1/8592 0/4406
1 c.550G>A r.(?) p.(Glu184Lys) g.209702G>A Copied from the Exome Variant Server PLCXD1_000086 5/12998 0/8592 5/4406
1 c.558G>A r.(=) p.(=) g.209710G>A Copied from the Exome Variant Server PLCXD1_000087 2/12998 1/8592 1/4406
1 c.566G>A r.(?) p.(Arg189Gln) g.209718G>A Copied from the Exome Variant Server PLCXD1_000088 1/12998 0/8592 1/4406
1 c.580C>T r.(?) p.(Arg194Trp) g.209732C>T Copied from the Exome Variant Server PLCXD1_000089 1/12998 0/8592 1/4406
1 c.613G>A r.(?) p.(Glu205Lys) g.209765G>A Copied from the Exome Variant Server PLCXD1_000090 2/12998 1/8592 1/4406
1 c.617G>A r.(?) p.(Ser206Asn) g.209769G>A Copied from the Exome Variant Server PLCXD1_000091 1/12998 0/8592 1/4406
1 c.619T>G r.(?) p.(Ser207Ala) g.209771T>G Copied from the Exome Variant Server PLCXD1_000092 1/12998 0/8592 1/4406
1 c.621C>T r.(=) p.(=) g.209773C>T Copied from the Exome Variant Server PLCXD1_000093 12/12998 11/8592 1/4406
1 c.626G>A r.(?) p.(Arg209His) g.209778G>A Copied from the Exome Variant Server PLCXD1_000094 1/12998 1/8592 0/4406
1 c.628C>T r.(?) p.(Arg210Trp) g.209780C>T Copied from the Exome Variant Server PLCXD1_000095 1/12998 1/8592 0/4406
1 c.629G>A r.(?) p.(Arg210Gln) g.209781G>A Copied from the Exome Variant Server PLCXD1_000096 3/12998 0/8592 3/4406
1 c.645G>A r.(?) p.(Trp215*) g.209797G>A Copied from the Exome Variant Server PLCXD1_000097 12/12998 0/8592 12/4406
1 c.647C>T r.(?) p.(Pro216Leu) g.209799C>T Copied from the Exome Variant Server PLCXD1_000098 1/12998 0/8592 1/4406
1 c.648A>C r.(=) p.(=) g.209800A>C Copied from the Exome Variant Server PLCXD1_000099 1/12998 0/8592 1/4406
1 c.660C>T r.(=) p.(=) g.209812C>T Copied from the Exome Variant Server PLCXD1_000100 9/12998 8/8592 1/4406
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