Full data view for gene ZNF746

Information The variants shown are described using the NM_152557.4 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
Legend  

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.33G>A r.(=) p.(=) g.149191586C>T Copied from the Exome Variant Server ZNF746_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.51G>A r.(=) p.(=) g.149191568C>T Copied from the Exome Variant Server ZNF746_000096 64/13006 47/8600 17/4406 - - - - - - -
?/? c.147C>T r.(=) p.(=) g.149191472G>A Copied from the Exome Variant Server ZNF746_000095 3/13006 0/8600 3/4406 - - - - - - -
?/? c.153G>T r.(?) p.(Lys51Asn) g.149191466C>A Copied from the Exome Variant Server ZNF746_000094 4/13006 0/8600 4/4406 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.149191460G>A Copied from the Exome Variant Server ZNF746_000093 3614/13002 2519/8596 1095/4406 - - - - - - -
?/? c.160G>A r.(?) p.(Val54Met) g.149191459C>T Copied from the Exome Variant Server ZNF746_000092 1/13002 1/8596 0/4406 - - - - - - -
?/? c.222C>T r.(=) p.(=) g.149191397G>A Copied from the Exome Variant Server ZNF746_000091 1/13002 1/8596 0/4406 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.149191370G>A Copied from the Exome Variant Server ZNF746_000090 5/13002 3/8596 2/4406 - - - - - - -
?/? c.268A>G r.(?) p.(Asn90Asp) g.149191351T>C Copied from the Exome Variant Server ZNF746_000089 16/13002 0/8596 16/4406 - - - - - - -
?/? c.294G>T r.(=) p.(=) g.149191325C>A Copied from the Exome Variant Server ZNF746_000088 1/13002 0/8596 1/4406 - - - - - - -
?/? c.298C>T r.(?) p.(Pro100Ser) g.149191321G>A Copied from the Exome Variant Server ZNF746_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.299C>T r.(?) p.(Pro100Leu) g.149191320G>A Copied from the Exome Variant Server ZNF746_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.149191301G>A Copied from the Exome Variant Server ZNF746_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.325-40C>T r.(=) p.(=) g.149191201G>A Copied from the Exome Variant Server ZNF746_000084 112/13006 2/8600 110/4406 - - - - - - -
?/? c.325-39G>A r.(=) p.(=) g.149191200C>T Copied from the Exome Variant Server ZNF746_000083 19/13006 0/8600 19/4406 - - - - - - -
?/? c.325-19C>T r.(=) p.(=) g.149191180G>A Copied from the Exome Variant Server ZNF746_000082 2/13006 2/8600 0/4406 - - - - - - -
?/? c.325-18G>A r.(=) p.(=) g.149191179C>T Copied from the Exome Variant Server ZNF746_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.325-6G>A r.(=) p.(=) g.149191167C>T Copied from the Exome Variant Server ZNF746_000080 5/13006 5/8600 0/4406 - - - - - - -
?/? c.357G>A r.(=) p.(=) g.149191129C>T Copied from the Exome Variant Server ZNF746_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.370G>A r.(?) p.(Val124Met) g.149191116C>T Copied from the Exome Variant Server ZNF746_000078 2/13002 2/8596 0/4406 - - - - - - -
?/? c.387C>T r.(=) p.(=) g.149191099G>A Copied from the Exome Variant Server ZNF746_000077 2/13006 2/8600 0/4406 - - - - - - -
?/? c.397G>A r.(?) p.(Val133Ile) g.149191089C>T Copied from the Exome Variant Server ZNF746_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.406+12C>A r.(=) p.(=) g.149191068G>T Copied from the Exome Variant Server ZNF746_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.406+53A>G r.(=) p.(=) g.149191027T>C Copied from the Exome Variant Server ZNF746_000074 3016/4566 2022/3182 994/1384 - - - - - - -
?/? c.407-49C>T r.(=) p.(=) g.149190112G>A Copied from the Exome Variant Server ZNF746_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.407-35A>G r.(=) p.(=) g.149190098T>C Copied from the Exome Variant Server ZNF746_000072 2766/13006 2533/8600 233/4406 - - - - - - -
?/? c.407-27A>G r.(=) p.(=) g.149190090T>C Copied from the Exome Variant Server ZNF746_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.407-18C>T r.(=) p.(=) g.149190081G>A Copied from the Exome Variant Server ZNF746_000070 5/13006 2/8600 3/4406 - - - - - - -
?/? c.407-14C>T r.(=) p.(=) g.149190077G>A Copied from the Exome Variant Server ZNF746_000069 6/13006 0/8600 6/4406 - - - - - - -
?/? c.408C>T r.(=) p.(=) g.149190062G>A Copied from the Exome Variant Server ZNF746_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.149190059G>A Copied from the Exome Variant Server ZNF746_000067 60/13006 56/8600 4/4406 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.149190038G>A Copied from the Exome Variant Server ZNF746_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.464G>A r.(?) p.(Cys155Tyr) g.149190006C>T Copied from the Exome Variant Server ZNF746_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.472C>T r.(?) p.(Arg158Cys) g.149189998G>A Copied from the Exome Variant Server ZNF746_000064 5/13006 5/8600 0/4406 - - - - - - -
?/? c.473G>A r.(?) p.(Arg158His) g.149189997C>T Copied from the Exome Variant Server ZNF746_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.475C>T r.(?) p.(Arg159Cys) g.149189995G>A Copied from the Exome Variant Server ZNF746_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.476G>A r.(?) p.(Arg159His) g.149189994C>T Copied from the Exome Variant Server ZNF746_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.482G>A r.(?) p.(Gly161Asp) g.149189988C>T Copied from the Exome Variant Server ZNF746_000060 20/13006 3/8600 17/4406 - - - - - - -
?/? c.503C>G r.(?) p.(Pro168Arg) g.149189967G>C Copied from the Exome Variant Server ZNF746_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.513C>T r.(=) p.(=) g.149189957G>A Copied from the Exome Variant Server ZNF746_000058 3/13006 1/8600 2/4406 - - - - - - -
?/? c.515G>A r.(?) p.(Ser172Asn) g.149189955C>T Copied from the Exome Variant Server ZNF746_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.520+32A>G r.(=) p.(=) g.149189918T>C Copied from the Exome Variant Server ZNF746_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.541G>A r.(?) p.(Ala181Thr) g.149174826C>T Copied from the Exome Variant Server ZNF746_000055 1/13004 1/8600 0/4404 - - - - - - -
?/? c.546A>C r.(=) p.(=) g.149174821T>G Copied from the Exome Variant Server ZNF746_000054 13/13006 13/8600 0/4406 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.149174758G>A Copied from the Exome Variant Server ZNF746_000053 531/13006 3/8600 528/4406 - - - - - - -
?/? c.618G>A r.(=) p.(=) g.149174749C>T Copied from the Exome Variant Server ZNF746_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.149174740G>A Copied from the Exome Variant Server ZNF746_000049 18/13006 15/8600 3/4406 - - - - - - -
?/? c.629G>A r.(?) p.(Gly210Glu) g.149174738C>T Copied from the Exome Variant Server ZNF746_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.650A>C r.(?) p.(Glu217Ala) g.149174717T>G Copied from the Exome Variant Server ZNF746_000052 41/13006 0/8600 41/4406 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.149174689G>A Copied from the Exome Variant Server ZNF746_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.695C>G r.(?) p.(Ser232Cys) g.149174672G>C Copied from the Exome Variant Server ZNF746_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.712+16G>A r.(=) p.(=) g.149174639C>T Copied from the Exome Variant Server ZNF746_000046 32/13006 0/8600 32/4406 - - - - - - -
?/? c.712+29A>G r.(=) p.(=) g.149174626T>C Copied from the Exome Variant Server ZNF746_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.713-39G>A r.(=) p.(=) g.149174177C>T Copied from the Exome Variant Server ZNF746_000044 8/13004 0/8598 8/4406 - - - - - - -
?/? c.713-5C>T r.spl? p.? g.149174143G>A Copied from the Exome Variant Server ZNF746_000043 3/13006 0/8600 3/4406 - - - - - - -
?/? c.738C>G r.(=) p.(=) g.149174113G>C Copied from the Exome Variant Server ZNF746_000042 7/13006 0/8600 7/4406 - - - - - - -
?/? c.743C>T r.(?) p.(Pro248Leu) g.149174108G>A Copied from the Exome Variant Server ZNF746_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.744G>A r.(=) p.(=) g.149174107C>T Copied from the Exome Variant Server ZNF746_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.761C>T r.(?) p.(Thr254Met) g.149174090G>A Copied from the Exome Variant Server ZNF746_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.791C>T r.(?) p.(Ala264Val) g.149174060G>A Copied from the Exome Variant Server ZNF746_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.149174053C>T Copied from the Exome Variant Server ZNF746_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? c.825_827del r.(?) p.(Ala276del) g.149174024_149174026del Copied from the Exome Variant Server ZNF746_000036 37/12518 29/8254 8/4264 - - - - - - -
?/? c.832A>G r.(?) p.(Thr278Ala) g.149174019T>C Copied from the Exome Variant Server ZNF746_000035 45/13006 1/8600 44/4406 - - - - - - -
?/? c.834G>A r.(=) p.(=) g.149174017C>T Copied from the Exome Variant Server ZNF746_000034 29/13006 0/8600 29/4406 - - - - - - -
?/? c.838+26_838+30del r.(=) p.(=) g.149173983_149173987del Copied from the Exome Variant Server ZNF746_000033 13/12518 6/8254 7/4264 - - - - - - -
?/? c.838+44T>C r.(=) p.(=) g.149173969A>G Copied from the Exome Variant Server ZNF746_000032 18/13006 0/8600 18/4406 - - - - - - -
?/? c.838+51T>C r.(=) p.(=) g.149173962A>G Copied from the Exome Variant Server ZNF746_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.839-49C>T r.(=) p.(=) g.149172620G>A Copied from the Exome Variant Server ZNF746_000030 1/12884 0/8528 1/4356 - - - - - - -
?/? c.839-18T>G r.(=) p.(=) g.149172589A>C Copied from the Exome Variant Server ZNF746_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.910C>T r.(=) p.(=) g.149172500G>A Copied from the Exome Variant Server ZNF746_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.911T>A r.(?) p.(Leu304Gln) g.149172499A>T Copied from the Exome Variant Server ZNF746_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.939A>G r.(=) p.(=) g.149172471T>C Copied from the Exome Variant Server ZNF746_000026 2/13006 2/8600 0/4406 - - - - - - -
?/? c.990A>G r.(=) p.(=) g.149172420T>C Copied from the Exome Variant Server ZNF746_000025 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1037G>A r.(?) p.(Arg346Gln) g.149172373C>T Copied from the Exome Variant Server ZNF746_000024 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1082C>T r.(?) p.(Ala361Val) g.149172328G>A Copied from the Exome Variant Server ZNF746_000023 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1100C>T r.(?) p.(Thr367Ile) g.149172310G>A Copied from the Exome Variant Server ZNF746_000022 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1152G>A r.(=) p.(=) g.149172258C>T Copied from the Exome Variant Server ZNF746_000021 2/12976 2/8586 0/4390 - - - - - - -
?/? c.1187G>A r.(?) p.(Gly396Glu) g.149172223C>T Copied from the Exome Variant Server ZNF746_000020 5/12960 5/8572 0/4388 - - - - - - -
?/? c.1197G>A r.(=) p.(=) g.149172213C>T Copied from the Exome Variant Server ZNF746_000019 2/12988 1/8594 1/4394 - - - - - - -
?/? c.1221C>T r.(=) p.(=) g.149172189G>A Copied from the Exome Variant Server ZNF746_000018 4/12986 0/8592 4/4394 - - - - - - -
?/? c.1249G>T r.(?) p.(Ala417Ser) g.149172161C>A Copied from the Exome Variant Server ZNF746_000017 4/12950 0/8564 4/4386 - - - - - - -
?/? c.1344del r.(?) p.(Gly450Alafs*19) g.149172066del Copied from the Exome Variant Server ZNF746_000016 24/9742 14/6550 10/3192 - - - - - - -
?/? c.1512A>C r.(=) p.(=) g.149171898T>G Copied from the Exome Variant Server ZNF746_000015 13/11288 0/7442 13/3846 - - - - - - -
?/? c.1644C>T r.(=) p.(=) g.149171766G>A Copied from the Exome Variant Server ZNF746_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1686C>T r.(=) p.(=) g.149171724G>A Copied from the Exome Variant Server ZNF746_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1688T>C r.(?) p.(Val563Ala) g.149171722A>G Copied from the Exome Variant Server ZNF746_000012 2/13004 2/8600 0/4404 - - - - - - -
?/? c.1691G>A r.(?) p.(Arg564Gln) g.149171719C>T Copied from the Exome Variant Server ZNF746_000011 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1695C>T r.(=) p.(=) g.149171715G>A Copied from the Exome Variant Server ZNF746_000010 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1752C>T r.(=) p.(=) g.149171658G>A Copied from the Exome Variant Server ZNF746_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1806G>A r.(=) p.(=) g.149171604C>T Copied from the Exome Variant Server ZNF746_000008 34/12988 0/8592 34/4396 - - - - - - -
?/? c.1839C>T r.(=) p.(=) g.149171571G>A Copied from the Exome Variant Server ZNF746_000007 1/12996 1/8596 0/4400 - - - - - - -
?/? c.1856C>T r.(?) p.(Pro619Leu) g.149171554G>A Copied from the Exome Variant Server ZNF746_000006 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1863C>T r.(=) p.(=) g.149171547G>A Copied from the Exome Variant Server ZNF746_000005 1/13000 0/8598 1/4402 - - - - - - -
?/? c.*13C>A r.(=) p.(=) g.149171462G>T Copied from the Exome Variant Server ZNF746_000004 21/12974 0/8586 21/4388 - - - - - - -
?/? c.*16T>C r.(=) p.(=) g.149171459A>G Copied from the Exome Variant Server ZNF746_000003 29/12968 27/8582 2/4386 - - - - - - -
?/? c.*19C>A r.(=) p.(=) g.149171456G>T Copied from the Exome Variant Server ZNF746_000002 22/12960 0/8582 22/4378 - - - - - - -
?/? c.*49G>A r.(=) p.(=) g.149171426C>T Copied from the Exome Variant Server ZNF746_000001 2/12832 1/8528 1/4304 - - - - - - -
Legend