Unique variants in gene GYG2

Information The variants shown are described using the NM_003918.2 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-49C>T r.(=) p.(=) g.2748181C>T Copied from the Exome Variant Server GYG2_000001 5/10554 4/6724 1/3830
1 c.-23C>G r.(=) p.(=) g.2748207C>G Copied from the Exome Variant Server GYG2_000002 1/10561 0/6726 1/3835
1 c.-17C>T r.(=) p.(=) g.2748213C>T Copied from the Exome Variant Server GYG2_000003 1/10561 1/6726 0/3835
1 c.7+17G>C r.(=) p.(=) g.2748253G>C Copied from the Exome Variant Server GYG2_000004 9783/10559 6684/6724 3099/3835
1 c.8-19_8-18insT r.(=) p.(=) g.2761020_2761021insT Copied from the Exome Variant Server GYG2_000005 14/6251 11/4018 3/2233
1 c.138C>T r.(=) p.(=) g.2761291C>T Copied from the Exome Variant Server GYG2_000006 1/10561 1/6726 0/3835
1 c.201G>A r.(=) p.(=) g.2761354G>A Copied from the Exome Variant Server GYG2_000007 1/10555 0/6720 1/3835
1 c.202C>G r.(?) p.(Leu68Val) g.2761355C>G Copied from the Exome Variant Server GYG2_000008 1/10555 1/6720 0/3835
1 c.208G>A r.(?) p.(Val70Met) g.2761361G>A Copied from the Exome Variant Server GYG2_000009 1/10556 0/6721 1/3835
1 c.242+17C>T r.(=) p.(=) g.2761412C>T Copied from the Exome Variant Server GYG2_000010 360/10557 2/6722 358/3835
1 c.243-35C>T r.(=) p.(=) g.2771986C>T Copied from the Exome Variant Server GYG2_000011 1/10561 1/6726 0/3835
1 c.243-26C>T r.(=) p.(=) g.2771995C>T Copied from the Exome Variant Server GYG2_000012 1/10561 0/6726 1/3835
1 c.243-15A>G r.(=) p.(=) g.2772006A>G Copied from the Exome Variant Server GYG2_000013 1/10561 1/6726 0/3835
1 c.259G>T r.(?) p.(Val87Leu) g.2772037G>T Copied from the Exome Variant Server GYG2_000014 1/10561 0/6726 1/3835
1 c.307A>G r.(?) p.(Ile103Val) g.2772085A>G Copied from the Exome Variant Server GYG2_000015 1/10561 1/6726 0/3835
1 c.332C>A r.(?) p.(Pro111His) g.2772110C>A Copied from the Exome Variant Server GYG2_000016 1/10561 1/6726 0/3835
1 c.345C>T r.(=) p.(=) g.2772123C>T Copied from the Exome Variant Server GYG2_000017 1/10561 1/6726 0/3835
1 c.379_380insA r.(?) p.(His127Glnfs*20) g.2772157_2772158insA Copied from the Exome Variant Server GYG2_000018 1/10203 0/6482 1/3721
1 c.417+14C>T r.(=) p.(=) g.2772209C>T Copied from the Exome Variant Server GYG2_000019 1/10529 1/6705 0/3824
1 c.418-27C>T r.(=) p.(=) g.2773007C>T Copied from the Exome Variant Server GYG2_000020 14/10562 13/6727 1/3835
1 c.418G>A r.(?) p.(Val140Met) g.2773034G>A Copied from the Exome Variant Server GYG2_000021 2/10562 2/6727 0/3835
1 c.435T>C r.(=) p.(=) g.2773051T>C Copied from the Exome Variant Server GYG2_000022 1/10562 1/6727 0/3835
1 c.438G>A r.(=) p.(=) g.2773054G>A Copied from the Exome Variant Server GYG2_000023 2/10562 1/6727 1/3835
1 c.465G>A r.(=) p.(=) g.2773081G>A Copied from the Exome Variant Server GYG2_000024 1/10562 0/6727 1/3835
1 c.471G>A r.(=) p.(=) g.2773087G>A Copied from the Exome Variant Server GYG2_000025 1/10562 0/6727 1/3835
1 c.474C>T r.(=) p.(=) g.2773090C>T Copied from the Exome Variant Server GYG2_000026 2/10562 0/6727 2/3835
1 c.478G>A r.(?) p.(Gly160Arg) g.2773094G>A Copied from the Exome Variant Server GYG2_000027 4/10562 0/6727 4/3835
1 c.556G>A r.(?) p.(Ala186Thr) g.2773172G>A Copied from the Exome Variant Server GYG2_000028 1/10562 1/6727 0/3835
1 c.567C>T r.(=) p.(=) g.2773183C>T Copied from the Exome Variant Server GYG2_000029 2/10562 1/6727 1/3835
1 c.579C>T r.(=) p.(=) g.2773195C>T Copied from the Exome Variant Server GYG2_000030 1/10562 0/6727 1/3835
1 c.580+14G>A r.(=) p.(=) g.2773210G>A Copied from the Exome Variant Server GYG2_000031 2/10562 0/6727 2/3835
1 c.580+17C>T r.(=) p.(=) g.2773213C>T Copied from the Exome Variant Server GYG2_000032 1/10562 0/6727 1/3835
1 c.580+21C>T r.(=) p.(=) g.2773217C>T Copied from the Exome Variant Server GYG2_000033 1/10562 1/6727 0/3835
1 c.580+22G>A r.(=) p.(=) g.2773218G>A Copied from the Exome Variant Server GYG2_000034 1/10562 1/6727 0/3835
1 c.651G>A r.(=) p.(=) g.2774609G>A Copied from the Exome Variant Server GYG2_000035 840/10562 17/6727 823/3835
1 c.677C>T r.(?) p.(Thr226Met) g.2774635C>T Copied from the Exome Variant Server GYG2_000036 8/10562 0/6727 8/3835
1 c.707+4A>T r.spl? p.? g.2774669A>T Copied from the Exome Variant Server GYG2_000037 2/10562 2/6727 0/3835
1 c.707+19C>T r.(=) p.(=) g.2774684C>T Copied from the Exome Variant Server GYG2_000038 2/10562 0/6727 2/3835
1 c.707+20G>A r.(=) p.(=) g.2774685G>A Copied from the Exome Variant Server GYG2_000039 1/10562 0/6727 1/3835
1 c.707+27G>A r.(=) p.(=) g.2774692G>A Copied from the Exome Variant Server GYG2_000040 6/10562 6/6727 0/3835
1 c.707+35T>G r.(=) p.(=) g.2774700T>G Copied from the Exome Variant Server GYG2_000041 3358/10562 1860/6727 1498/3835
1 c.707+43C>T r.(=) p.(=) g.2774708C>T Copied from the Exome Variant Server GYG2_000042 3/10562 3/6727 0/3835
1 c.707+44C>T r.(=) p.(=) g.2774709C>T Copied from the Exome Variant Server GYG2_000043 1/10562 1/6727 0/3835
1 c.708-38C>T r.(=) p.(=) g.2777846C>T Copied from the Exome Variant Server GYG2_000044 268/10556 1/6724 267/3832
1 c.708-34G>A r.(=) p.(=) g.2777850G>A Copied from the Exome Variant Server GYG2_000045 1/10557 0/6724 1/3833
1 c.708-13G>C r.(=) p.(=) g.2777871G>C Copied from the Exome Variant Server GYG2_000046 1/10561 0/6726 1/3835
1 c.708-8C>T r.(=) p.(=) g.2777876C>T Copied from the Exome Variant Server GYG2_000047 6/10561 6/6726 0/3835
1 c.708-7T>A r.(=) p.(=) g.2777877T>A Copied from the Exome Variant Server GYG2_000048 1/10561 1/6726 0/3835
1 c.730G>T r.(?) p.(Val244Phe) g.2777906G>T Copied from the Exome Variant Server GYG2_000049 1/10561 1/6726 0/3835
1 c.777A>T r.(=) p.(=) g.2777953A>T Copied from the Exome Variant Server GYG2_000050 1/10561 1/6726 0/3835
1 c.798G>A r.(=) p.(=) g.2777974G>A Copied from the Exome Variant Server GYG2_000051 1/10561 1/6726 0/3835
1 c.809C>T r.(?) p.(Ala270Val) g.2777985C>T Copied from the Exome Variant Server GYG2_000052 6418/10561 5033/6726 1385/3835
1 c.830C>T r.(?) p.(Ala277Val) g.2778006C>T Copied from the Exome Variant Server GYG2_000053 2/10557 2/6723 0/3834
1 c.831G>A r.(=) p.(=) g.2778007G>A Copied from the Exome Variant Server GYG2_000054 1/10557 0/6723 1/3834
1 c.871G>A r.(?) p.(Val291Met) g.2778047G>A Copied from the Exome Variant Server GYG2_000055 1/10558 0/6723 1/3835
1 c.892G>A r.(?) p.(Val298Ile) g.2778068G>A Copied from the Exome Variant Server GYG2_000056 8/10561 8/6726 0/3835
1 c.912C>T r.(=) p.(=) g.2778088C>T Copied from the Exome Variant Server GYG2_000057 1/10561 0/6726 1/3835
1 c.913G>A r.(?) p.(Ala305Thr) g.2778089G>A Copied from the Exome Variant Server GYG2_000058 2/10561 0/6726 2/3835
1 c.915G>A r.(=) p.(=) g.2778091G>A Copied from the Exome Variant Server GYG2_000059 10/10560 0/6726 10/3834
1 c.930+2T>G r.spl? p.? g.2778108T>G Copied from the Exome Variant Server GYG2_000060 1/10550 1/6719 0/3831
1 c.931-36A>G r.(=) p.(=) g.2779527A>G Copied from the Exome Variant Server GYG2_000061 32/10558 0/6724 32/3834
1 c.931-19C>T r.(=) p.(=) g.2779544C>T Copied from the Exome Variant Server GYG2_000062 2/10561 2/6726 0/3835
1 c.938A>G r.(?) p.(His313Arg) g.2779570A>G Copied from the Exome Variant Server GYG2_000063 6250/10561 4847/6726 1403/3835
1 c.957G>A r.(=) p.(=) g.2779589G>A Copied from the Exome Variant Server GYG2_000064 3/10561 2/6726 1/3835
1 c.962C>T r.(?) p.(Ala321Val) g.2779594C>T Copied from the Exome Variant Server GYG2_000065 9/10561 0/6726 9/3835
1 c.963G>A r.(=) p.(=) g.2779595G>A Copied from the Exome Variant Server GYG2_000066 167/10561 1/6726 166/3835
1 c.1011T>A r.(?) p.(Ser337Arg) g.2779643T>A Copied from the Exome Variant Server GYG2_000067 2/10561 0/6726 2/3835
1 c.1013C>T r.(?) p.(Ala338Val) g.2779645C>T Copied from the Exome Variant Server GYG2_000068 2/10561 1/6726 1/3835
1 c.1018G>A r.(?) p.(Val340Met) g.2779650G>A Copied from the Exome Variant Server GYG2_000069 2/10561 2/6726 0/3835
1 c.1055C>A r.(?) p.(Pro352His) g.2779687C>A Copied from the Exome Variant Server GYG2_000070 3/10561 0/6726 3/3835
1 c.1117C>T r.(?) p.(Arg373Cys) g.2779749C>T Copied from the Exome Variant Server GYG2_000071 91/10557 78/6723 13/3834
1 c.1131+38C>T r.(=) p.(=) g.2779801C>T Copied from the Exome Variant Server GYG2_000072 1/10453 1/6651 0/3802
1 c.1131+50G>C r.(=) p.(=) g.2779813G>C Copied from the Exome Variant Server GYG2_000073 1/10310 1/6555 0/3755
1 c.1132-38G>A r.(=) p.(=) g.2793813G>A Copied from the Exome Variant Server GYG2_000074 8/10560 0/6726 8/3834
1 c.1132-11C>T r.(=) p.(=) g.2793840C>T Copied from the Exome Variant Server GYG2_000075 1/10561 1/6726 0/3835
1 c.1164C>T r.(=) p.(=) g.2793883C>T Copied from the Exome Variant Server GYG2_000076 1/10562 0/6727 1/3835
1 c.1192C>A r.(?) p.(Pro398Thr) g.2793911C>A Copied from the Exome Variant Server GYG2_000077 171/10561 1/6726 170/3835
1 c.1203G>C r.(?) p.(Gln401His) g.2793922G>C Copied from the Exome Variant Server GYG2_000078 2/10562 2/6727 0/3835
1 c.1232T>C r.(?) p.(Ile411Thr) g.2793951T>C Copied from the Exome Variant Server GYG2_000079 20/10562 0/6727 20/3835
1 c.1236+25A>C r.(=) p.(=) g.2793980A>C Copied from the Exome Variant Server GYG2_000080 1/10559 1/6724 0/3835
1 c.1236+29G>C r.(=) p.(=) g.2793984G>C Copied from the Exome Variant Server GYG2_000081 35/10559 34/6724 1/3835
1 c.1236+43T>C r.(=) p.(=) g.2793998T>C Copied from the Exome Variant Server GYG2_000082 3/10555 0/6721 3/3834
1 c.1237-38G>A r.(=) p.(=) g.2795203G>A Copied from the Exome Variant Server GYG2_000083 2/10561 0/6726 2/3835
1 c.1237-32C>T r.(=) p.(=) g.2795209C>T Copied from the Exome Variant Server GYG2_000084 1/10561 1/6726 0/3835
1 c.1271A>C r.(?) p.(Glu424Ala) g.2795275A>C Copied from the Exome Variant Server GYG2_000085 1/10561 0/6726 1/3835
1 c.1282G>C r.(?) p.(Glu428Gln) g.2795286G>C Copied from the Exome Variant Server GYG2_000086 5/10562 4/6727 1/3835
1 c.1330C>T r.(?) p.(Gln444*) g.2795334C>T Copied from the Exome Variant Server GYG2_000087 1/10562 1/6727 0/3835
1 c.1344G>A r.(=) p.(=) g.2795348G>A Copied from the Exome Variant Server GYG2_000088 1/10562 0/6727 1/3835
1 c.1366T>C r.(?) p.(Ser456Pro) g.2799114T>C Copied from the Exome Variant Server GYG2_000089 3/10561 3/6726 0/3835
1 c.1370A>G r.(?) p.(Gln457Arg) g.2799118A>G Copied from the Exome Variant Server GYG2_000090 5/10561 5/6726 0/3835
1 c.1443C>G r.(?) p.(Ile481Met) g.2799191C>G Copied from the Exome Variant Server GYG2_000091 6/10560 5/6725 1/3835
1 c.1492C>G r.(?) p.(Arg498Gly) g.2799240C>G Copied from the Exome Variant Server GYG2_000092 3/10559 3/6725 0/3834
1 c.1494G>C r.(=) p.(=) g.2799242G>C Copied from the Exome Variant Server GYG2_000093 1/10559 0/6725 1/3834
1 c.*2C>A r.(=) p.(=) g.2799256C>A Copied from the Exome Variant Server GYG2_000094 1/10559 0/6726 1/3833
1 c.*25G>A r.(=) p.(=) g.2799279G>A Copied from the Exome Variant Server GYG2_000095 2/10537 2/6713 0/3824
1 c.*36A>G r.(=) p.(=) g.2799290A>G Copied from the Exome Variant Server GYG2_000096 1/10515 0/6700 1/3815
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