Full data view for gene TMEM206

Information The variants shown are described using the NM_018252.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.-68C>A r.(=) p.(=) g.212588167G>T Copied from the Exome Variant Server TMEM206_000076 2/4566 2/3182 0/1384 - - - - - - -
?/? c.-64A>C r.(=) p.(=) g.212588163T>G Copied from the Exome Variant Server TMEM206_000075 12/4566 0/3182 12/1384 - - - - - - -
?/? c.-52G>C r.(=) p.(=) g.212588151C>G Copied from the Exome Variant Server TMEM206_000074 1/7270 1/4616 0/2654 - - - - - - -
?/? c.-48G>A r.(=) p.(=) g.212588147C>T Copied from the Exome Variant Server TMEM206_000073 60/13006 1/8600 59/4406 - - - - - - -
?/? c.-45G>T r.(=) p.(=) g.212588144C>A Copied from the Exome Variant Server TMEM206_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.22A>G r.(?) p.(Thr8Ala) g.212588078T>C Copied from the Exome Variant Server TMEM206_000071 2/13006 0/8600 2/4406 - - - - - - -
?/? c.36+33G>C r.(=) p.(=) g.212588031C>G Copied from the Exome Variant Server TMEM206_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.36+38G>T r.(=) p.(=) g.212588026C>A Copied from the Exome Variant Server TMEM206_000069 3/13006 3/8600 0/4406 - - - - - - -
?/? c.37-27C>T r.(=) p.(=) g.212583890G>A Copied from the Exome Variant Server TMEM206_000068 53/13006 0/8600 53/4406 - - - - - - -
?/? c.100A>T r.(?) p.(Thr34Ser) g.212583800T>A Copied from the Exome Variant Server TMEM206_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.120G>A r.(=) p.(=) g.212583780C>T Copied from the Exome Variant Server TMEM206_000063 2/13006 0/8600 2/4406 - - - - - - -
?/? c.134-18G>A r.(=) p.(=) g.212560460C>T Copied from the Exome Variant Server TMEM206_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141C>G r.(?) p.(Asp47Glu) g.212560435G>C Copied from the Exome Variant Server TMEM206_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.212560426G>A Copied from the Exome Variant Server TMEM206_000057 2/13006 1/8600 1/4406 - - - - - - -
?/? c.193G>A r.(?) p.(Val65Ile) g.212560383C>T Copied from the Exome Variant Server TMEM206_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.240G>A r.(=) p.(=) g.212560336C>T Copied from the Exome Variant Server TMEM206_000053 42/13006 0/8600 42/4406 - - - - - - -
?/? c.243C>T r.(=) p.(=) g.212560333G>A Copied from the Exome Variant Server TMEM206_000051 5/13006 0/8600 5/4406 - - - - - - -
?/? c.249T>C N/A N/A g.212560327A>G Copied from the Exome Variant Server TMEM206_000049 12830/13006 8437/8600 4393/4406 - - - - - - -
?/? c.259C>T r.(?) p.(Arg87Trp) g.212560317G>A Copied from the Exome Variant Server TMEM206_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.276T>C r.(=) p.(=) g.212560300A>G Copied from the Exome Variant Server TMEM206_000045 149/13006 5/8600 144/4406 - - - - - - -
?/? c.328C>T r.(?) p.(Arg110Cys) g.212560248G>A Copied from the Exome Variant Server TMEM206_000043 19/13006 17/8600 2/4406 - - - - - - -
?/? c.332A>G r.(?) p.(Tyr111Cys) g.212560244T>C Copied from the Exome Variant Server TMEM206_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.343+49C>T r.(=) p.(=) g.212560184G>A Copied from the Exome Variant Server TMEM206_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.343+51G>A r.(=) p.(=) g.212560182C>T Copied from the Exome Variant Server TMEM206_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.344-49G>A r.(=) p.(=) g.212558816C>T Copied from the Exome Variant Server TMEM206_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.361G>A r.(?) p.(Gly121Ser) g.212558750C>T Copied from the Exome Variant Server TMEM206_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.380G>A r.(?) p.(Ser127Asn) g.212558731C>T Copied from the Exome Variant Server TMEM206_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431C>T r.(?) p.(Pro144Leu) g.212558680G>A Copied from the Exome Variant Server TMEM206_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.432G>A r.(=) p.(=) g.212558679C>T Copied from the Exome Variant Server TMEM206_000054 191/13006 184/8600 7/4406 - - - - - - -
?/? c.436G>A r.(?) p.(Asp146Asn) g.212558675C>T Copied from the Exome Variant Server TMEM206_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.469A>G r.(?) p.(Thr157Ala) g.212558642T>C Copied from the Exome Variant Server TMEM206_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.470C>T r.(?) p.(Thr157Met) g.212558641G>A Copied from the Exome Variant Server TMEM206_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.212558637G>A Copied from the Exome Variant Server TMEM206_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.485A>G r.(?) p.(Asn162Ser) g.212558626T>C Copied from the Exome Variant Server TMEM206_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.495+8del r.(=) p.(=) g.212558608del Copied from the Exome Variant Server TMEM206_000042 5/12520 0/8254 5/4266 - - - - - - -
?/? c.495+16C>G r.(=) p.(=) g.212558600G>C Copied from the Exome Variant Server TMEM206_000041 116/13006 0/8600 116/4406 - - - - - - -
?/? c.495+21C>T r.(=) p.(=) g.212558595G>A Copied from the Exome Variant Server TMEM206_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.495+50C>T r.(=) p.(=) g.212558566G>A Copied from the Exome Variant Server TMEM206_000039 9/13006 8/8600 1/4406 - - - - - - -
?/? c.496-8C>T r.(=) p.(=) g.212553387G>A Copied from the Exome Variant Server TMEM206_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.562C>T r.(?) p.(Arg188Cys) g.212553313G>A Copied from the Exome Variant Server TMEM206_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? c.563G>A r.(?) p.(Arg188His) g.212553312C>T Copied from the Exome Variant Server TMEM206_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.570C>T r.(=) p.(=) g.212553305G>A Copied from the Exome Variant Server TMEM206_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.607C>T r.(?) p.(Leu203Phe) g.212553268G>A Copied from the Exome Variant Server TMEM206_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.612C>T r.(=) p.(=) g.212553263G>A Copied from the Exome Variant Server TMEM206_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.631del r.(?) p.(Leu211Cysfs*7) g.212553244del Copied from the Exome Variant Server TMEM206_000027 53/12520 45/8254 8/4266 - - - - - - -
?/? c.639-10T>C r.(=) p.(=) g.212551058A>G Copied from the Exome Variant Server TMEM206_000025 4/13006 0/8600 4/4406 - - - - - - -
?/? c.639-2A>G r.spl? p.? g.212551050T>C Copied from the Exome Variant Server TMEM206_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.639C>G r.(?) p.(Ser213Arg) g.212551048G>C Copied from the Exome Variant Server TMEM206_000034 2/13006 0/8600 2/4406 - - - - - - -
?/? c.659T>G r.(?) p.(Met220Arg) g.212551028A>C Copied from the Exome Variant Server TMEM206_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.674G>T r.(?) p.(Ser225Ile) g.212551013C>A Copied from the Exome Variant Server TMEM206_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.700G>C r.(?) p.(Gly234Arg) g.212550987C>G Copied from the Exome Variant Server TMEM206_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.710G>A r.(?) p.(Arg237His) g.212550977C>T Copied from the Exome Variant Server TMEM206_000026 3/13006 2/8600 1/4406 - - - - - - -
?/? c.757C>T r.(?) p.(Arg253Trp) g.212550930G>A Copied from the Exome Variant Server TMEM206_000024 3/13006 2/8600 1/4406 - - - - - - -
?/? c.758G>A r.(?) p.(Arg253Gln) g.212550929C>T Copied from the Exome Variant Server TMEM206_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.765del r.(?) p.(Val256Trpfs*43) g.212550922del Copied from the Exome Variant Server TMEM206_000022 1/12520 1/8254 0/4266 - - - - - - -
?/? c.783+19G>C r.(=) p.(=) g.212550885C>G Copied from the Exome Variant Server TMEM206_000021 4/13006 3/8600 1/4406 - - - - - - -
?/? c.783+38T>G r.(=) p.(=) g.212550866A>C Copied from the Exome Variant Server TMEM206_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.783+49C>T r.(=) p.(=) g.212550855G>A Copied from the Exome Variant Server TMEM206_000019 1184/13006 21/8600 1163/4406 - - - - - - -
?/? c.783+50G>A r.(=) p.(=) g.212550854C>T Copied from the Exome Variant Server TMEM206_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784-32T>C r.(=) p.(=) g.212548674A>G Copied from the Exome Variant Server TMEM206_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784-22_784-20del r.(=) p.(=) g.212548662_212548664del Copied from the Exome Variant Server TMEM206_000016 1/12520 0/8254 1/4266 - - - - - - -
?/? c.784-19T>C r.(=) p.(=) g.212548661A>G Copied from the Exome Variant Server TMEM206_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784-17C>A r.(=) p.(=) g.212548659G>T Copied from the Exome Variant Server TMEM206_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.829_830insA r.(?) p.(Ser277Lysfs*10) g.212548596_212548597insT Copied from the Exome Variant Server TMEM206_000013 3/12520 2/8254 1/4266 - - - - - - -
?/? c.837A>G r.(=) p.(=) g.212548589T>C Copied from the Exome Variant Server TMEM206_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.880A>T r.(?) p.(Lys294*) g.212548546T>A Copied from the Exome Variant Server TMEM206_000011 2/13006 2/8600 0/4406 - - - - - - -
?/? c.891+21T>C r.(=) p.(=) g.212548514A>G Copied from the Exome Variant Server TMEM206_000010 1/13002 0/8600 1/4402 - - - - - - -
?/? c.892-41A>T r.(=) p.(=) g.212538759T>A Copied from the Exome Variant Server TMEM206_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.892-5C>T r.spl? p.? g.212538723G>A Copied from the Exome Variant Server TMEM206_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.212538674G>A Copied from the Exome Variant Server TMEM206_000007 2/13006 2/8600 0/4406 - - - - - - -
?/? c.937G>A r.(?) p.(Ala313Thr) g.212538673C>T Copied from the Exome Variant Server TMEM206_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1038G>A r.(=) p.(=) g.212538572C>T Copied from the Exome Variant Server TMEM206_000005 1406/13006 21/8600 1385/4406 - - - - - - -
?/? c.*9C>T r.(=) p.(=) g.212538548G>A Copied from the Exome Variant Server TMEM206_000004 3/13006 1/8600 2/4406 - - - - - - -
?/? c.*11C>A r.(=) p.(=) g.212538546G>T Copied from the Exome Variant Server TMEM206_000003 3/13006 1/8600 2/4406 - - - - - - -
?/? c.*12G>A r.(=) p.(=) g.212538545C>T Copied from the Exome Variant Server TMEM206_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*20G>A r.(=) p.(=) g.212538537C>T Copied from the Exome Variant Server TMEM206_000001 6/13006 0/8600 6/4406 - - - - - - -
Legend