Unique variants in gene GIGYF2

Information The variants shown are described using the NM_001103146.1 transcript reference sequence.

255 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-4A>C r.(=) p.(=) g.233599904A>C Copied from the Exome Variant Server GIGYF2_000001 4171/13006 3007/8600 1164/4406
1 c.8C>T r.(?) p.(Ala3Val) g.233599915C>T Copied from the Exome Variant Server GIGYF2_000002 2/13006 0/8600 2/4406
1 c.42-49G>T r.(=) p.(=) g.233612276G>T Copied from the Exome Variant Server GIGYF2_000003 1/13006 0/8600 1/4406
1 c.42-17T>G r.(=) p.(=) g.233612308T>G Copied from the Exome Variant Server GIGYF2_000005 1/13006 0/8600 1/4406
1 c.45C>T r.(=) p.(=) g.233612328C>T Copied from the Exome Variant Server GIGYF2_000008 1/13006 0/8600 1/4406
1 c.56C>G r.(?) p.(Ser19Cys) g.233612339C>G Copied from the Exome Variant Server GIGYF2_000010 1/13006 1/8600 0/4406
1 c.91C>T r.(?) p.(Pro31Ser) g.233612374C>T Copied from the Exome Variant Server GIGYF2_000011 1/13006 0/8600 1/4406
1 c.144G>T r.(?) p.(Met48Ile) g.233612427G>T Copied from the Exome Variant Server GIGYF2_000013 1/13006 1/8600 0/4406
1 c.167A>G r.(?) p.(Asn56Ser) g.233612450A>G Copied from the Exome Variant Server GIGYF2_000015 5/13006 4/8600 1/4406
1 c.171+29T>C r.(=) p.(=) g.233612483T>C Copied from the Exome Variant Server GIGYF2_000017 3/13006 0/8600 3/4406
1 c.172-45T>G r.(=) p.(=) g.233613652T>G Copied from the Exome Variant Server GIGYF2_000019 1/13006 0/8600 1/4406
1 c.172-43C>G r.(=) p.(=) g.233613654C>G Copied from the Exome Variant Server GIGYF2_000021 1/13006 0/8600 1/4406
1 c.172-27C>T r.(=) p.(=) g.233613670C>T Copied from the Exome Variant Server GIGYF2_000004 2/13006 1/8600 1/4406
1 c.172-18A>T r.(=) p.(=) g.233613679A>T Copied from the Exome Variant Server GIGYF2_000006 1/13006 1/8600 0/4406
1 c.189G>C r.(=) p.(=) g.233613714G>C Copied from the Exome Variant Server GIGYF2_000007 3/13006 0/8600 3/4406
1 c.208A>G r.(?) p.(Ile70Val) g.233613733A>G Copied from the Exome Variant Server GIGYF2_000009 2/13006 1/8600 1/4406
1 c.241C>T r.(=) p.(=) g.233613766C>T Copied from the Exome Variant Server GIGYF2_000012 2/13006 2/8600 0/4406
1 c.250T>C r.(?) p.(Phe84Leu) g.233613775T>C Copied from the Exome Variant Server GIGYF2_000014 1/13006 0/8600 1/4406
1 c.267+15C>A r.(=) p.(=) g.233613807C>A Copied from the Exome Variant Server GIGYF2_000016 1/13006 0/8600 1/4406
1 c.267+17G>C r.(=) p.(=) g.233613809G>C Copied from the Exome Variant Server GIGYF2_000018 1/13006 1/8600 0/4406
1 c.267+22C>G r.(=) p.(=) g.233613814C>G Copied from the Exome Variant Server GIGYF2_000020 4/13006 4/8600 0/4406
1 c.267+38C>G r.(=) p.(=) g.233613830C>G Copied from the Exome Variant Server GIGYF2_000022 1/13006 1/8600 0/4406
1 c.268-43_268-42insT r.(=) p.(=) g.233620890_233620891insT Copied from the Exome Variant Server GIGYF2_000023 47/12218 31/8154 16/4064
1 c.268-35_268-34del r.(=) p.(=) g.233620898_233620899del Copied from the Exome Variant Server GIGYF2_000024 78/12308 44/8186 34/4122
1 c.268-27T>A r.(=) p.(=) g.233620906T>A Copied from the Exome Variant Server GIGYF2_000025 28/12800 1/8534 27/4266
1 c.342G>T r.(=) p.(=) g.233621007G>T Copied from the Exome Variant Server GIGYF2_000026 1/13006 1/8600 0/4406
1 c.345G>A r.(=) p.(=) g.233621010G>A Copied from the Exome Variant Server GIGYF2_000027 3/13006 0/8600 3/4406
1 c.349C>T r.(?) p.(Pro117Ser) g.233621014C>T Copied from the Exome Variant Server GIGYF2_000028 1/13006 1/8600 0/4406
1 c.379+29_379+30insGGA r.(=) p.(=) g.233621073_233621074insGGA Copied from the Exome Variant Server GIGYF2_000029 23/12518 9/8254 14/4264
1 c.379+30G>A r.(=) p.(=) g.233621074G>A Copied from the Exome Variant Server GIGYF2_000030 1/13006 1/8600 0/4406
1 c.380-26A>G r.(=) p.(=) g.233625164A>G Copied from the Exome Variant Server GIGYF2_000031 2/13006 0/8600 2/4406
1 c.380-3C>T r.spl? p.? g.233625187C>T Copied from the Exome Variant Server GIGYF2_000032 2/13006 0/8600 2/4406
1 c.385G>T r.(?) p.(Gly129Cys) g.233625195G>T Copied from the Exome Variant Server GIGYF2_000033 1/13006 1/8600 0/4406
1 c.474G>A r.(=) p.(=) g.233625284G>A Copied from the Exome Variant Server GIGYF2_000034 1/13006 0/8600 1/4406
1 c.491+5C>A r.spl? p.? g.233625306C>A Copied from the Exome Variant Server GIGYF2_000035 3/13006 0/8600 3/4406
1 c.491+12C>T r.(=) p.(=) g.233625313C>T Copied from the Exome Variant Server GIGYF2_000036 21/13006 20/8600 1/4406
1 c.491+29A>G r.(=) p.(=) g.233625330A>G Copied from the Exome Variant Server GIGYF2_000037 80/13006 1/8600 79/4406
1 c.491+51T>C r.(=) p.(=) g.233625352T>C Copied from the Exome Variant Server GIGYF2_000038 66/12996 1/8594 65/4402
1 c.532+9C>T r.(=) p.(=) g.233626155C>T Copied from the Exome Variant Server GIGYF2_000039 1/13006 1/8600 0/4406
1 c.532+10T>G r.(=) p.(=) g.233626156T>G Copied from the Exome Variant Server GIGYF2_000040 4/13006 0/8600 4/4406
1 c.532+22_532+23del r.(=) p.(=) g.233626168_233626169del Copied from the Exome Variant Server GIGYF2_000041 325/12520 3/8254 322/4266
1 c.532+35_532+57del r.(=) p.(=) g.233626181_233626203del Copied from the Exome Variant Server GIGYF2_000042 5/12518 0/8252 5/4266
1 c.532+6707C>T r.(=) p.(=) g.233632853C>T Copied from the Exome Variant Server GIGYF2_000043 1/13006 0/8600 1/4406
1 c.532+6710C>T r.(=) p.(=) g.233632856C>T Copied from the Exome Variant Server GIGYF2_000044 1/13006 1/8600 0/4406
1 c.532+6717G>T r.(=) p.(=) g.233632863G>T Copied from the Exome Variant Server GIGYF2_000045 1/13004 0/8598 1/4406
1 c.532+6741A>G r.(=) p.(=) g.233632887A>G Copied from the Exome Variant Server GIGYF2_000046 2/13006 0/8600 2/4406
1 c.532+6748A>G r.(=) p.(=) g.233632894A>G Copied from the Exome Variant Server GIGYF2_000047 1/13006 1/8600 0/4406
1 c.532+6858G>A r.(?) p.(Thr327Ile) g.233633004G>A Copied from the Exome Variant Server GIGYF2_000048 1/13006 0/8600 1/4406
1 c.532+6908T>C r.(=) p.(=) g.233633054T>C Copied from the Exome Variant Server GIGYF2_000049 1/13006 1/8600 0/4406
1 c.532+6924C>T r.(?) p.(Arg305Gln) g.233633070C>T Copied from the Exome Variant Server GIGYF2_000050 2/13006 1/8600 1/4406
1 c.532+6931A>G r.(=) p.(=) g.233633077A>G Copied from the Exome Variant Server GIGYF2_000051 1/13006 1/8600 0/4406
1 c.532+6940C>G r.(?) p.(Ala300Pro) g.233633086C>G Copied from the Exome Variant Server GIGYF2_000052 1/13006 1/8600 0/4406
1 c.532+7000C>T r.(?) p.(Glu280Lys) g.233633146C>T Copied from the Exome Variant Server GIGYF2_000053 1/13006 1/8600 0/4406
1 c.532+7017A>G r.(?) p.(Met274Thr) g.233633163A>G Copied from the Exome Variant Server GIGYF2_000054 1/13006 1/8600 0/4406
1 c.532+7031T>C r.(=) p.(=) g.233633177T>C Copied from the Exome Variant Server GIGYF2_000055 1/13006 0/8600 1/4406
1 c.532+7035A>G r.(?) p.(Val268Ala) g.233633181A>G Copied from the Exome Variant Server GIGYF2_000056 1/13006 1/8600 0/4406
1 c.532+7060C>T r.(?) p.(Glu260Lys) g.233633206C>T Copied from the Exome Variant Server GIGYF2_000057 1/13006 0/8600 1/4406
1 c.532+7116A>T r.(?) p.(Leu241Gln) g.233633262A>T Copied from the Exome Variant Server GIGYF2_000058 4/13006 0/8600 4/4406
1 c.532+7142G>A r.(=) p.(=) g.233633288G>A Copied from the Exome Variant Server GIGYF2_000059 1/13006 1/8600 0/4406
1 c.532+7149C>T r.(?) p.(Ser230Asn) g.233633295C>T Copied from the Exome Variant Server GIGYF2_000060 2/13006 2/8600 0/4406
1 c.532+7186A>G r.(?) p.(Tyr218His) g.233633332A>G Copied from the Exome Variant Server GIGYF2_000061 2/13006 0/8600 2/4406
1 c.532+7218A>G r.(?) p.(Val207Ala) g.233633364A>G Copied from the Exome Variant Server GIGYF2_000062 1/13006 0/8600 1/4406
1 c.532+7231G>A r.(?) p.(Arg203Trp) g.233633377G>A Copied from the Exome Variant Server GIGYF2_000063 3/13006 2/8600 1/4406
1 c.532+7310T>C r.(=) p.(=) g.233633456T>C Copied from the Exome Variant Server GIGYF2_000064 1/13006 0/8600 1/4406
1 c.532+7314G>A r.(?) p.(Thr175Ile) g.233633460G>A Copied from the Exome Variant Server GIGYF2_000065 4179/13006 3013/8600 1166/4406
1 c.532+7327G>A r.(?) p.(Arg171Cys) g.233633473G>A Copied from the Exome Variant Server GIGYF2_000066 1/13006 0/8600 1/4406
1 c.532+7391T>C r.(=) p.(=) g.233633537T>C Copied from the Exome Variant Server GIGYF2_000067 1/12642 0/8464 1/4178
1 c.532+7397del r.(=) p.(=) g.233633543del Copied from the Exome Variant Server GIGYF2_000069 76/11938 53/8044 23/3894
1 c.532+7397dup r.(=) p.(=) g.233633543dup Copied from the Exome Variant Server GIGYF2_000068 89/11938 22/8044 67/3894
1 c.532+7428A>G r.(=) p.(=) g.233633574A>G Copied from the Exome Variant Server GIGYF2_000070 1/12242 1/8306 0/3936
1 c.532+9489G>A r.(=) p.(=) g.233635635G>A Copied from the Exome Variant Server GIGYF2_000071 1/13006 0/8600 1/4406
1 c.532+9685A>G r.(?) p.(Met81Thr) g.233635831A>G Copied from the Exome Variant Server GIGYF2_000072 1/13006 1/8600 0/4406
1 c.532+9689C>T r.(?) p.(Glu80Lys) g.233635835C>T Copied from the Exome Variant Server GIGYF2_000073 1/13006 1/8600 0/4406
1 c.532+9732A>C r.(=) p.(=) g.233635878A>C Copied from the Exome Variant Server GIGYF2_000074 1/13006 0/8600 1/4406
1 c.532+9842G>A r.(?) p.(Leu29Phe) g.233635988G>A Copied from the Exome Variant Server GIGYF2_000075 1/13006 1/8600 0/4406
1 c.532+9874C>T r.(?) p.(Arg18Gln) g.233636020C>T Copied from the Exome Variant Server GIGYF2_000076 1/13006 1/8600 0/4406
1 c.532+9900A>T r.(=) p.(=) g.233636046A>T Copied from the Exome Variant Server GIGYF2_000078 1/13006 1/8600 0/4406
1 c.532+9910C>G r.(?) p.(Cys6Ser) g.233636056C>G Copied from the Exome Variant Server GIGYF2_000080 1/13006 1/8600 0/4406
1 c.533-10803T>C r.(=) p.(=) g.233641057T>C Copied from the Exome Variant Server GIGYF2_000083 2/4566 2/3182 0/1384
1 c.533-10777G>C r.(=) p.(=) g.233641083G>C Copied from the Exome Variant Server GIGYF2_000085 7859/11872 5170/8188 2689/3684
1 c.533-10651_533-10650del r.(=) p.(=) g.233641209_233641210del Copied from the Exome Variant Server GIGYF2_000087 1129/11448 426/7850 703/3598
1 c.533-10649del r.(=) p.(=) g.233641211del Copied from the Exome Variant Server GIGYF2_000089 1001/11452 372/7854 629/3598
1 c.533-10612T>A r.(=) p.(=) g.233641248T>A Copied from the Exome Variant Server GIGYF2_000091 5/4566 4/3182 1/1384
1 c.533-42G>C r.(=) p.(=) g.233651818G>C Copied from the Exome Variant Server GIGYF2_000093 1/13006 1/8600 0/4406
1 c.533-20C>T r.(=) p.(=) g.233651840C>T Copied from the Exome Variant Server GIGYF2_000095 1/13006 0/8600 1/4406
1 c.533-18A>G r.(=) p.(=) g.233651842A>G Copied from the Exome Variant Server GIGYF2_000097 2/13006 1/8600 1/4406
1 c.535A>C r.(=) p.(=) g.233651862A>C Copied from the Exome Variant Server GIGYF2_000099 1/13006 0/8600 1/4406
1 c.579G>A r.(=) p.(=) g.233651906G>A Copied from the Exome Variant Server GIGYF2_000077 1/13006 0/8600 1/4406
1 c.609T>C r.(=) p.(=) g.233651936T>C Copied from the Exome Variant Server GIGYF2_000079 2/13006 0/8600 2/4406
1 c.687A>G r.(=) p.(=) g.233652014A>G Copied from the Exome Variant Server GIGYF2_000081 1/13006 0/8600 1/4406
1 c.712+36G>A r.(=) p.(=) g.233652075G>A Copied from the Exome Variant Server GIGYF2_000082 1/13006 0/8600 1/4406
1 c.713-50A>G r.(=) p.(=) g.233655358A>G Copied from the Exome Variant Server GIGYF2_000084 1/13004 1/8600 0/4404
1 c.721C>T r.(?) p.(Arg241Cys) g.233655416C>T Copied from the Exome Variant Server GIGYF2_000086 1/13006 1/8600 0/4406
1 c.792T>C r.(=) p.(=) g.233655487T>C Copied from the Exome Variant Server GIGYF2_000088 1/13006 1/8600 0/4406
1 c.818C>G r.(?) p.(Ser273Cys) g.233655513C>G Copied from the Exome Variant Server GIGYF2_000090 1/13006 1/8600 0/4406
1 c.824G>T r.(?) p.(Ser275Ile) g.233655519G>T Copied from the Exome Variant Server GIGYF2_000092 1/13006 1/8600 0/4406
1 c.828G>C r.(=) p.(=) g.233655523G>C Copied from the Exome Variant Server GIGYF2_000094 2/13006 2/8600 0/4406
1 c.851G>C r.(?) p.(Ser284Thr) g.233655546G>C Copied from the Exome Variant Server GIGYF2_000096 1/13006 1/8600 0/4406
1 c.975C>A r.(?) p.(Phe325Leu) g.233655762C>A Copied from the Exome Variant Server GIGYF2_000098 1/13006 0/8600 1/4406
1 c.982G>C r.(?) p.(Val328Leu) g.233655769G>C Copied from the Exome Variant Server GIGYF2_000100 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2 3     Next › Last »