Full data view for gene HCK

Information The variants shown are described using the NM_001172129.1 transcript reference sequence.

117 entries on 2 pages. Showing entries 1 - 100.
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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.-61del r.(=) p.(=) g.30640230del Copied from the Exome Variant Server HCK_000001 40/6182 30/4310 10/1872 - - - - - - -
?/? c.-1-49G>T r.(=) p.(=) g.30659416G>T Copied from the Exome Variant Server HCK_000002 3/13006 0/8600 3/4406 - - - - - - -
?/? c.-1-41C>A r.(=) p.(=) g.30659424C>A Copied from the Exome Variant Server HCK_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-1-10del r.(=) p.(=) g.30659455del Copied from the Exome Variant Server HCK_000004 1/12518 1/8254 0/4264 - - - - - - -
?/? c.33C>T r.(=) p.(=) g.30659498C>T Copied from the Exome Variant Server HCK_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.41A>G r.(?) p.(Asn14Ser) g.30659506A>G Copied from the Exome Variant Server HCK_000006 2/13006 2/8600 0/4406 - - - - - - -
?/? c.67G>A r.(?) p.(Ala23Thr) g.30659532G>A Copied from the Exome Variant Server HCK_000007 31/13006 26/8600 5/4406 - - - - - - -
?/? c.72C>T r.(=) p.(=) g.30659537C>T Copied from the Exome Variant Server HCK_000008 841/13006 47/8600 794/4406 - - - - - - -
?/? c.73C>G r.(?) p.(Pro25Ala) g.30659538C>G Copied from the Exome Variant Server HCK_000009 8/13006 0/8600 8/4406 - - - - - - -
?/? c.82C>G r.(?) p.(Pro28Ala) g.30659547C>G Copied from the Exome Variant Server HCK_000010 10/13006 0/8600 10/4406 - - - - - - -
?/? c.91G>T r.(?) p.(Val31Leu) g.30659556G>T Copied from the Exome Variant Server HCK_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.92T>C r.(?) p.(Val31Ala) g.30659557T>C Copied from the Exome Variant Server HCK_000012 2/13006 0/8600 2/4406 - - - - - - -
?/? c.112A>C r.(?) p.(Ile38Leu) g.30659577A>C Copied from the Exome Variant Server HCK_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.119C>T r.(?) p.(Pro40Leu) g.30659584C>T Copied from the Exome Variant Server HCK_000014 4/13006 1/8600 3/4406 - - - - - - -
?/? c.120+51A>G r.(=) p.(=) g.30659636A>G Copied from the Exome Variant Server HCK_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.121-63G>C r.(=) p.(=) g.30661059G>C Copied from the Exome Variant Server HCK_000016 1/4566 1/3182 0/1384 - - - - - - -
?/? c.121-54C>T r.(=) p.(=) g.30661068C>T Copied from the Exome Variant Server HCK_000017 5/4566 5/3182 0/1384 - - - - - - -
?/? c.121-53G>A r.(=) p.(=) g.30661069G>A Copied from the Exome Variant Server HCK_000018 3/4566 0/3182 3/1384 - - - - - - -
?/? c.121-46C>T r.(=) p.(=) g.30661076C>T Copied from the Exome Variant Server HCK_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.121-41A>T r.(=) p.(=) g.30661081A>T Copied from the Exome Variant Server HCK_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.121-29C>A r.(=) p.(=) g.30661093C>A Copied from the Exome Variant Server HCK_000021 26/13006 0/8600 26/4406 - - - - - - -
?/? c.122G>A r.(?) p.(Gly41Glu) g.30661123G>A Copied from the Exome Variant Server HCK_000023 3/13006 3/8600 0/4406 - - - - - - -
?/? c.129T>C r.(=) p.(=) g.30661130T>C Copied from the Exome Variant Server HCK_000025 138/13006 69/8600 69/4406 - - - - - - -
?/? c.137A>G r.(?) p.(Asn46Ser) g.30661138A>G Copied from the Exome Variant Server HCK_000027 5/13006 0/8600 5/4406 - - - - - - -
?/? c.149C>A r.(?) p.(Pro50Gln) g.30661150C>A Copied from the Exome Variant Server HCK_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.160G>C r.(?) p.(Glu54Gln) g.30661161G>C Copied from the Exome Variant Server HCK_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.163+8T>C r.(=) p.(=) g.30661172T>C Copied from the Exome Variant Server HCK_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.163+12C>T r.(=) p.(=) g.30661176C>T Copied from the Exome Variant Server HCK_000035 27/13006 2/8600 25/4406 - - - - - - -
?/? c.163+13G>A r.(=) p.(=) g.30661177G>A Copied from the Exome Variant Server HCK_000037 68/13006 0/8600 68/4406 - - - - - - -
?/? c.163+16C>T r.(=) p.(=) g.30661180C>T Copied from the Exome Variant Server HCK_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.163+17A>T r.(=) p.(=) g.30661181A>T Copied from the Exome Variant Server HCK_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.163+28del r.(=) p.(=) g.30661192del Copied from the Exome Variant Server HCK_000022 1/12518 1/8254 0/4264 - - - - - - -
?/? c.163+47G>A r.(=) p.(=) g.30661211G>A Copied from the Exome Variant Server HCK_000024 209/13006 2/8600 207/4406 - - - - - - -
?/? c.164-33G>A r.(=) p.(=) g.30661486G>A Copied from the Exome Variant Server HCK_000026 1/12840 1/8472 0/4368 - - - - - - -
?/? c.198T>C r.(=) p.(=) g.30661553T>C Copied from the Exome Variant Server HCK_000028 11/12978 0/8576 11/4402 - - - - - - -
?/? c.211A>G r.(?) p.(Ile71Val) g.30661566A>G Copied from the Exome Variant Server HCK_000030 2/12948 2/8556 0/4392 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.30661574C>T Copied from the Exome Variant Server HCK_000032 10/12938 0/8548 10/4390 - - - - - - -
?/? c.234C>T r.(=) p.(=) g.30661589C>T Copied from the Exome Variant Server HCK_000034 1/12888 1/8510 0/4378 - - - - - - -
?/? c.250A>T r.(?) p.(Met84Leu) g.30661605A>T Copied from the Exome Variant Server HCK_000036 218/12856 192/8488 26/4368 - - - - - - -
?/? c.266+24del r.(=) p.(=) g.30661645del Copied from the Exome Variant Server HCK_000038 1/11984 1/7890 0/4094 - - - - - - -
?/? c.266+32A>G r.(=) p.(=) g.30661653A>G Copied from the Exome Variant Server HCK_000040 1/12384 1/8188 0/4196 - - - - - - -
?/? c.266+45A>G r.(=) p.(=) g.30661666A>G Copied from the Exome Variant Server HCK_000042 2/12122 0/7992 2/4130 - - - - - - -
?/? c.267-30C>T r.(=) p.(=) g.30662396C>T Copied from the Exome Variant Server HCK_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.267A>G r.(=) p.(=) g.30662426A>G Copied from the Exome Variant Server HCK_000044 16/13006 16/8600 0/4406 - - - - - - -
?/? c.289C>T r.(?) p.(Arg97*) g.30662448C>T Copied from the Exome Variant Server HCK_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.340C>T r.(?) p.(Arg114Cys) g.30662499C>T Copied from the Exome Variant Server HCK_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.355G>C r.(?) p.(Glu119Gln) g.30662514G>C Copied from the Exome Variant Server HCK_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.365+13T>C r.(=) p.(=) g.30662537T>C Copied from the Exome Variant Server HCK_000048 9/13006 8/8600 1/4406 - - - - - - -
?/? c.365+51C>T r.(=) p.(=) g.30662575C>T Copied from the Exome Variant Server HCK_000049 1/13004 0/8598 1/4406 - - - - - - -
?/? c.366-16C>T r.(=) p.(=) g.30667561C>T Copied from the Exome Variant Server HCK_000050 3/13006 0/8600 3/4406 - - - - - - -
?/? c.366-7C>T r.(=) p.(=) g.30667570C>T Copied from the Exome Variant Server HCK_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.447C>T r.(=) p.(=) g.30667658C>T Copied from the Exome Variant Server HCK_000052 15/13006 0/8600 15/4406 - - - - - - -
?/? c.469del r.(?) p.(Gly157Glufs*18) g.30667680del Copied from the Exome Variant Server HCK_000053 1/12518 0/8254 1/4264 - - - - - - -
?/? c.469+10G>A r.(=) p.(=) g.30667690G>A Copied from the Exome Variant Server HCK_000054 56/13006 23/8600 33/4406 - - - - - - -
?/? c.469+12C>T r.(=) p.(=) g.30667692C>T Copied from the Exome Variant Server HCK_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.30671713C>T Copied from the Exome Variant Server HCK_000056 3/13006 0/8600 3/4406 - - - - - - -
?/? c.499G>A r.(?) p.(Asp167Asn) g.30671726G>A Copied from the Exome Variant Server HCK_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.505C>G r.(?) p.(Arg169Gly) g.30671732C>G Copied from the Exome Variant Server HCK_000058 2/13006 0/8600 2/4406 - - - - - - -
?/? c.519C>T r.(=) p.(=) g.30671746C>T Copied from the Exome Variant Server HCK_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.574C>T r.(?) p.(Arg192*) g.30671801C>T Copied from the Exome Variant Server HCK_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.619+29C>T r.(=) p.(=) g.30671875C>T Copied from the Exome Variant Server HCK_000061 3755/13006 2239/8600 1516/4406 - - - - - - -
?/? c.619+35G>C r.(=) p.(=) g.30671881G>C Copied from the Exome Variant Server HCK_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.620-41C>T r.(=) p.(=) g.30672153C>T Copied from the Exome Variant Server HCK_000063 3/13002 2/8596 1/4406 - - - - - - -
?/? c.620-9C>G r.(=) p.(=) g.30672185C>G Copied from the Exome Variant Server HCK_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.620-4C>T r.spl? p.? g.30672190C>T Copied from the Exome Variant Server HCK_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.624G>T r.(=) p.(=) g.30672198G>T Copied from the Exome Variant Server HCK_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.30672204C>T Copied from the Exome Variant Server HCK_000067 39/13006 34/8600 5/4406 - - - - - - -
?/? c.650C>T r.(?) p.(Ser217Leu) g.30672224C>T Copied from the Exome Variant Server HCK_000068 20/13006 0/8600 20/4406 - - - - - - -
?/? c.651G>A r.(=) p.(=) g.30672225G>A Copied from the Exome Variant Server HCK_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.733A>C r.(?) p.(Lys245Gln) g.30672307A>C Copied from the Exome Variant Server HCK_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.772+1G>A r.spl? p.? g.30672347G>A Copied from the Exome Variant Server HCK_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.772+14G>C r.(=) p.(=) g.30672360G>C Copied from the Exome Variant Server HCK_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.772+21C>T r.(=) p.(=) g.30672367C>T Copied from the Exome Variant Server HCK_000073 2/13006 0/8600 2/4406 - - - - - - -
?/? c.772+28G>A r.(=) p.(=) g.30672374G>A Copied from the Exome Variant Server HCK_000074 2/13004 0/8600 2/4404 - - - - - - -
?/? c.772+49G>A r.(=) p.(=) g.30672395G>A Copied from the Exome Variant Server HCK_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.773-27C>A r.(=) p.(=) g.30674404C>A Copied from the Exome Variant Server HCK_000076 16/13000 0/8596 16/4404 - - - - - - -
?/? c.783C>T r.(=) p.(=) g.30674441C>T Copied from the Exome Variant Server HCK_000077 3/13004 0/8600 3/4404 - - - - - - -
?/? c.809C>T r.(?) p.(Thr270Met) g.30674467C>T Copied from the Exome Variant Server HCK_000078 3/13004 3/8600 0/4404 - - - - - - -
?/? c.852G>A r.(=) p.(=) g.30674510G>A Copied from the Exome Variant Server HCK_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.947C>T r.(?) p.(Ala316Val) g.30674605C>T Copied from the Exome Variant Server HCK_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952+8G>A r.(=) p.(=) g.30674618G>A Copied from the Exome Variant Server HCK_000081 656/13006 30/8600 626/4406 - - - - - - -
?/? c.952+20G>A r.(=) p.(=) g.30674630G>A Copied from the Exome Variant Server HCK_000082 10/13006 0/8600 10/4406 - - - - - - -
?/? c.952+44G>C r.(=) p.(=) g.30674654G>C Copied from the Exome Variant Server HCK_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.953-55T>C r.(=) p.(=) g.30676316T>C Copied from the Exome Variant Server HCK_000084 255/4566 11/3182 244/1384 - - - - - - -
?/? c.953-9C>T r.(=) p.(=) g.30676362C>T Copied from the Exome Variant Server HCK_000085 5/13006 0/8600 5/4406 - - - - - - -
?/? c.953-7C>T r.(=) p.(=) g.30676364C>T Copied from the Exome Variant Server HCK_000086 13/13006 13/8600 0/4406 - - - - - - -
?/? c.1013T>C r.(?) p.(Ile338Thr) g.30676431T>C Copied from the Exome Variant Server HCK_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029+13C>T r.(=) p.(=) g.30676460C>T Copied from the Exome Variant Server HCK_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029+21C>T r.(=) p.(=) g.30676468C>T Copied from the Exome Variant Server HCK_000089 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1029+22G>A r.(=) p.(=) g.30676469G>A Copied from the Exome Variant Server HCK_000090 149/13006 0/8600 149/4406 - - - - - - -
?/? c.1030-44G>A r.(=) p.(=) g.30681622G>A Copied from the Exome Variant Server HCK_000091 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1030-43T>A r.(=) p.(=) g.30681623T>A Copied from the Exome Variant Server HCK_000092 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1030-17C>T r.(=) p.(=) g.30681649C>T Copied from the Exome Variant Server HCK_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1045G>A r.(?) p.(Ala349Thr) g.30681681G>A Copied from the Exome Variant Server HCK_000094 109/13006 2/8600 107/4406 - - - - - - -
?/? c.1147C>T r.(?) p.(Arg383Trp) g.30681783C>T Copied from the Exome Variant Server HCK_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1172C>T r.(?) p.(Thr391Met) g.30681808C>T Copied from the Exome Variant Server HCK_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1183+7A>G r.(=) p.(=) g.30681826A>G Copied from the Exome Variant Server HCK_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1184-33C>A r.(=) p.(=) g.30686774C>A Copied from the Exome Variant Server HCK_000098 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1184-25G>A r.(=) p.(=) g.30686782G>A Copied from the Exome Variant Server HCK_000099 6/13006 1/8600 5/4406 - - - - - - -
?/? c.1186G>T r.(?) p.(Ala396Ser) g.30686809G>T Copied from the Exome Variant Server HCK_000101 1/13006 0/8600 1/4406 - - - - - - -
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