Full data view for gene ZCCHC12

Information The variants shown are described using the NM_173798.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.19C>T r.(?) p.(Arg7Cys) g.117959226C>T Copied from the Exome Variant Server ZCCHC12_000010 33/10563 1/6728 32/3835 - - - - - - -
?/? c.24C>T r.(=) p.(=) g.117959231C>T Copied from the Exome Variant Server ZCCHC12_000001 1/10563 0/6728 1/3835 - - - - - - -
?/? c.99C>G r.(=) p.(=) g.117959306C>G Copied from the Exome Variant Server ZCCHC12_000002 3/10563 3/6728 0/3835 - - - - - - -
?/? c.100G>A r.(?) p.(Gly34Ser) g.117959307G>A Copied from the Exome Variant Server ZCCHC12_000003 5/10563 5/6728 0/3835 - - - - - - -
?/? c.108A>T r.(=) p.(=) g.117959315A>T Copied from the Exome Variant Server ZCCHC12_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.250A>G r.(?) p.(Lys84Glu) g.117959457A>G Copied from the Exome Variant Server ZCCHC12_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.284G>A r.(?) p.(Arg95His) g.117959491G>A Copied from the Exome Variant Server ZCCHC12_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.285C>T r.(=) p.(=) g.117959492C>T Copied from the Exome Variant Server ZCCHC12_000007 17/10563 0/6728 17/3835 - - - - - - -
?/? c.296G>A r.(?) p.(Arg99His) g.117959503G>A Copied from the Exome Variant Server ZCCHC12_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.338T>G r.(?) p.(Phe113Cys) g.117959545T>G Copied from the Exome Variant Server ZCCHC12_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.370T>G r.(?) p.(Ser124Ala) g.117959577T>G Copied from the Exome Variant Server ZCCHC12_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.444T>C r.(=) p.(=) g.117959651T>C Copied from the Exome Variant Server ZCCHC12_000012 3/10563 3/6728 0/3835 - - - - - - -
?/? c.451C>G r.(?) p.(Arg151Gly) g.117959658C>G Copied from the Exome Variant Server ZCCHC12_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.465G>A r.(=) p.(=) g.117959672G>A Copied from the Exome Variant Server ZCCHC12_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.117959681C>T Copied from the Exome Variant Server ZCCHC12_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.549G>A r.(=) p.(=) g.117959756G>A Copied from the Exome Variant Server ZCCHC12_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.562_567del r.(?) p.(Arg191_Leu192del) g.117959769_117959774del Copied from the Exome Variant Server ZCCHC12_000017 1/10202 1/6481 0/3721 - - - - - - -
?/? c.600A>T r.(=) p.(=) g.117959807A>T Copied from the Exome Variant Server ZCCHC12_000018 1/10559 1/6726 0/3833 - - - - - - -
?/? c.641G>T r.(?) p.(Arg214Ile) g.117959848G>T Copied from the Exome Variant Server ZCCHC12_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.654G>A r.(=) p.(=) g.117959861G>A Copied from the Exome Variant Server ZCCHC12_000020 2/10563 2/6728 0/3835 - - - - - - -
?/? c.682del r.(?) p.(Lys228Asnfs*27) g.117959889del Copied from the Exome Variant Server ZCCHC12_000021 1/10205 1/6484 0/3721 - - - - - - -
?/? c.694C>A r.(?) p.(Pro232Thr) g.117959901C>A Copied from the Exome Variant Server ZCCHC12_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.722G>C r.(?) p.(Arg241Thr) g.117959929G>C Copied from the Exome Variant Server ZCCHC12_000025 4/10563 4/6728 0/3835 - - - - - - -
?/? c.723G>T r.(?) p.(Arg241Ser) g.117959930G>T Copied from the Exome Variant Server ZCCHC12_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.117959936C>T Copied from the Exome Variant Server ZCCHC12_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.764T>A r.(?) p.(Val255Glu) g.117959971T>A Copied from the Exome Variant Server ZCCHC12_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.771C>T r.(=) p.(=) g.117959978C>T Copied from the Exome Variant Server ZCCHC12_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.827A>T r.(?) p.(Asp276Val) g.117960034A>T Copied from the Exome Variant Server ZCCHC12_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.837G>A r.(=) p.(=) g.117960044G>A Copied from the Exome Variant Server ZCCHC12_000026 417/10563 3/6728 414/3835 - - - - - - -
?/? c.872G>T r.(?) p.(Gly291Val) g.117960079G>T Copied from the Exome Variant Server ZCCHC12_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.934C>T r.(?) p.(His312Tyr) g.117960141C>T Copied from the Exome Variant Server ZCCHC12_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1007G>C r.(?) p.(Arg336Pro) g.117960214G>C Copied from the Exome Variant Server ZCCHC12_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1037G>T r.(?) p.(Arg346Leu) g.117960244G>T Copied from the Exome Variant Server ZCCHC12_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1179C>A r.(=) p.(=) g.117960386C>A Copied from the Exome Variant Server ZCCHC12_000034 141/10563 1/6728 140/3835 - - - - - - -
?/? c.1205T>G r.(?) p.(Leu402Arg) g.117960412T>G Copied from the Exome Variant Server ZCCHC12_000035 6/10558 6/6727 0/3831 - - - - - - -
?/? c.*48A>G r.(=) p.(=) g.117960464A>G Copied from the Exome Variant Server ZCCHC12_000036 32/10000 1/6513 31/3487 - - - - - - -
?/? c.*50T>C r.(=) p.(=) g.117960466T>C Copied from the Exome Variant Server ZCCHC12_000037 4/9969 4/6497 0/3472 - - - - - - -
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