Full data view for gene GJB7

Information The variants shown are described using the NM_198568.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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.-27-10T>A r.(=) p.(=) g.87994667A>T Copied from the Exome Variant Server GJB7_000042 43/13006 2/8600 41/4406 - - - - - - -
?/? c.-18T>G r.(=) p.(=) g.87994648A>C Copied from the Exome Variant Server GJB7_000041 20/13006 17/8600 3/4406 - - - - - - -
?/? c.-3G>A r.(=) p.(=) g.87994633C>T Copied from the Exome Variant Server GJB7_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14T>C r.(?) p.(Phe5Ser) g.87994617A>G Copied from the Exome Variant Server GJB7_000039 30/13006 0/8600 30/4406 - - - - - - -
?/? c.34_38del r.(?) p.(Gly12Lysfs*2) g.87994593_87994597del Copied from the Exome Variant Server GJB7_000038 96/12516 0/8254 96/4262 - - - - - - -
?/? c.59C>T r.(?) p.(Thr20Ile) g.87994572G>A Copied from the Exome Variant Server GJB7_000037 8215/13006 4519/8600 3696/4406 - - - - - - -
?/? c.81C>T r.(=) p.(=) g.87994550G>A Copied from the Exome Variant Server GJB7_000036 1157/13006 335/8600 822/4406 - - - - - - -
?/? c.82G>A r.(?) p.(Val28Met) g.87994549C>T Copied from the Exome Variant Server GJB7_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.86T>G r.(?) p.(Phe29Cys) g.87994545A>C Copied from the Exome Variant Server GJB7_000034 5/13006 4/8600 1/4406 - - - - - - -
?/? c.94C>T r.(?) p.(Arg32Cys) g.87994537G>A Copied from the Exome Variant Server GJB7_000033 84/13006 0/8600 84/4406 - - - - - - -
?/? c.122A>T r.(?) p.(Glu41Val) g.87994509T>A Copied from the Exome Variant Server GJB7_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.127G>A r.(?) p.(Val43Met) g.87994504C>T Copied from the Exome Variant Server GJB7_000031 859/13006 779/8600 80/4406 - - - - - - -
?/? c.144G>A r.(=) p.(=) g.87994487C>T Copied from the Exome Variant Server GJB7_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.145A>T r.(?) p.(Lys49*) g.87994486T>A Copied from the Exome Variant Server GJB7_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.146A>G r.(?) p.(Lys49Arg) g.87994485T>C Copied from the Exome Variant Server GJB7_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.150G>C r.(?) p.(Glu50Asp) g.87994481C>G Copied from the Exome Variant Server GJB7_000027 12/13006 0/8600 12/4406 - - - - - - -
?/? c.155A>C r.(?) p.(Glu52Ala) g.87994476T>G Copied from the Exome Variant Server GJB7_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.200A>C r.(?) p.(Asp67Ala) g.87994431T>G Copied from the Exome Variant Server GJB7_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.207C>T r.(=) p.(=) g.87994424G>A Copied from the Exome Variant Server GJB7_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249G>A r.(?) p.(Met83Ile) g.87994382C>T Copied from the Exome Variant Server GJB7_000023 162/13006 4/8600 158/4406 - - - - - - -
?/? c.274G>A r.(?) p.(Val92Ile) g.87994357C>T Copied from the Exome Variant Server GJB7_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.281A>T r.(?) p.(His94Leu) g.87994350T>A Copied from the Exome Variant Server GJB7_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.314A>C r.(?) p.(His105Pro) g.87994317T>G Copied from the Exome Variant Server GJB7_000020 8/13006 8/8600 0/4406 - - - - - - -
?/? c.325C>T r.(?) p.(Leu109Phe) g.87994306G>A Copied from the Exome Variant Server GJB7_000019 7/13006 0/8600 7/4406 - - - - - - -
?/? c.338C>A r.(?) p.(Pro113Gln) g.87994293G>T Copied from the Exome Variant Server GJB7_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.344C>T r.(?) p.(Thr115Ile) g.87994287G>A Copied from the Exome Variant Server GJB7_000017 2/13006 2/8600 0/4406 - - - - - - -
?/? c.418_422del r.(?) p.(Val140Ilefs*3) g.87994209_87994213del Copied from the Exome Variant Server GJB7_000016 74/12502 3/8244 71/4258 - - - - - - -
?/? c.443G>C r.(?) p.(Gly148Ala) g.87994188C>G Copied from the Exome Variant Server GJB7_000015 3/13006 3/8600 0/4406 - - - - - - -
?/? c.466A>C r.(?) p.(Lys156Gln) g.87994165T>G Copied from the Exome Variant Server GJB7_000014 4/13006 0/8600 4/4406 - - - - - - -
?/? c.481C>G r.(?) p.(Pro161Ala) g.87994150G>C Copied from the Exome Variant Server GJB7_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.494C>G r.(?) p.(Thr165Ser) g.87994137G>C Copied from the Exome Variant Server GJB7_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.497_498del r.(?) p.(Val166Glyfs*9) g.87994133_87994134del Copied from the Exome Variant Server GJB7_000011 5/12506 0/8244 5/4262 - - - - - - -
?/? c.506T>G r.(?) p.(Phe169Cys) g.87994125A>C Copied from the Exome Variant Server GJB7_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.530C>T r.(?) p.(Thr177Met) g.87994101G>A Copied from the Exome Variant Server GJB7_000007 1157/13006 335/8600 822/4406 - - - - - - -
?/? c.548T>C r.(?) p.(Leu183Ser) g.87994083A>G Copied from the Exome Variant Server GJB7_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.552C>T r.(=) p.(=) g.87994079G>A Copied from the Exome Variant Server GJB7_000010 62/13006 2/8600 60/4406 - - - - - - -
?/? c.607C>A r.(?) p.(Leu203Ile) g.87994024G>T Copied from the Exome Variant Server GJB7_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.616T>C r.(?) p.(Phe206Leu) g.87994015A>G Copied from the Exome Variant Server GJB7_000006 6761/13006 4182/8600 2579/4406 - - - - - - -
?/? c.628T>C r.(?) p.(Cys210Arg) g.87994003A>G Copied from the Exome Variant Server GJB7_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.644_645insT r.(?) p.(Leu215Phefs*43) g.87993986_87993987insA Copied from the Exome Variant Server GJB7_000003 43/12518 0/8254 43/4264 - - - - - - -
?/? c.645A>T r.(?) p.(Leu215Phe) g.87993986T>A Copied from the Exome Variant Server GJB7_000002 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*43C>A r.(=) p.(=) g.87993916G>T Copied from the Exome Variant Server GJB7_000001 2/13006 2/8600 0/4406 - - - - - - -
Legend