Full data view for gene GPT2

Information The variants shown are described using the NM_001142466.1 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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.-799C>T r.(=) p.(=) g.46918613C>T Copied from the Exome Variant Server GPT2_000001 1/8642 0/5790 1/2852 - - - - - - -
?/? c.-777G>T r.(=) p.(=) g.46918635G>T Copied from the Exome Variant Server GPT2_000002 1/8010 1/5446 0/2564 - - - - - - -
?/? c.-504T>C r.(=) p.(=) g.46918908T>C Copied from the Exome Variant Server GPT2_000003 1061/7716 502/5000 559/2716 - - - - - - -
?/? c.-57-42A>G r.(=) p.(=) g.46931518A>G Copied from the Exome Variant Server GPT2_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-57-22C>T r.(=) p.(=) g.46931538C>T Copied from the Exome Variant Server GPT2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.46931607C>T Copied from the Exome Variant Server GPT2_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.33+14A>G r.(=) p.(=) g.46931663A>G Copied from the Exome Variant Server GPT2_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.33+36C>T r.(=) p.(=) g.46931685C>T Copied from the Exome Variant Server GPT2_000008 2/13004 0/8598 2/4406 - - - - - - -
?/? c.34-52G>T r.(=) p.(=) g.46934542G>T Copied from the Exome Variant Server GPT2_000009 1/5734 1/3982 0/1752 - - - - - - -
?/? c.34-3C>T r.spl? p.? g.46934591C>T Copied from the Exome Variant Server GPT2_000010 25/13006 2/8600 23/4406 - - - - - - -
?/? c.43C>T r.(=) p.(=) g.46934603C>T Copied from the Exome Variant Server GPT2_000011 34/13006 0/8600 34/4406 - - - - - - -
?/? c.51C>T r.(=) p.(=) g.46934611C>T Copied from the Exome Variant Server GPT2_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.106C>T r.(?) p.(Arg36Trp) g.46934666C>T Copied from the Exome Variant Server GPT2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.110G>A r.(?) p.(Arg37Gln) g.46934670G>A Copied from the Exome Variant Server GPT2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.115C>T r.(=) p.(=) g.46934675C>T Copied from the Exome Variant Server GPT2_000015 2/13006 0/8600 2/4406 - - - - - - -
?/? c.118C>A r.(?) p.(Gln40Lys) g.46934678C>A Copied from the Exome Variant Server GPT2_000016 6/13006 0/8600 6/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.46934689C>T Copied from the Exome Variant Server GPT2_000017 141/13006 130/8600 11/4406 - - - - - - -
?/? c.142+22C>G r.(=) p.(=) g.46934724C>G Copied from the Exome Variant Server GPT2_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.143-49T>C r.(=) p.(=) g.46940705T>C Copied from the Exome Variant Server GPT2_000019 3/13006 3/8600 0/4406 - - - - - - -
?/? c.203C>T r.(?) p.(Thr68Ile) g.46940814C>T Copied from the Exome Variant Server GPT2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.210G>A r.(=) p.(=) g.46940821G>A Copied from the Exome Variant Server GPT2_000021 84/13006 75/8600 9/4406 - - - - - - -
?/? c.217G>A r.(?) p.(Gly73Ser) g.46940828G>A Copied from the Exome Variant Server GPT2_000022 2/13006 1/8600 1/4406 - - - - - - -
?/? c.227C>T r.(?) p.(Ala76Val) g.46940838C>T Copied from the Exome Variant Server GPT2_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.276+12G>A r.(=) p.(=) g.46940899G>A Copied from the Exome Variant Server GPT2_000024 3/13006 3/8600 0/4406 - - - - - - -
?/? c.276+20G>A r.(=) p.(=) g.46940907G>A Copied from the Exome Variant Server GPT2_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.276+30G>A r.(=) p.(=) g.46940917G>A Copied from the Exome Variant Server GPT2_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.276+46A>G r.(=) p.(=) g.46940933A>G Copied from the Exome Variant Server GPT2_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.277-2A>G r.spl? p.? g.46943594A>G Copied from the Exome Variant Server GPT2_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.306C>T r.(=) p.(=) g.46943625C>T Copied from the Exome Variant Server GPT2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.46943688C>T Copied from the Exome Variant Server GPT2_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.426G>A r.(=) p.(=) g.46943745G>A Copied from the Exome Variant Server GPT2_000031 22/13006 21/8600 1/4406 - - - - - - -
?/? c.449G>A r.(?) p.(Arg150Gln) g.46943768G>A Copied from the Exome Variant Server GPT2_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.452C>T r.(?) p.(Ala151Val) g.46943771C>T Copied from the Exome Variant Server GPT2_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.475T>C r.(?) p.(Cys159Arg) g.46943794T>C Copied from the Exome Variant Server GPT2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.520+3C>G r.spl? p.? g.46943842C>G Copied from the Exome Variant Server GPT2_000035 2/13006 2/8600 0/4406 - - - - - - -
?/? c.520+17C>T r.(=) p.(=) g.46943856C>T Copied from the Exome Variant Server GPT2_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.520+29G>A r.(=) p.(=) g.46943868G>A Copied from the Exome Variant Server GPT2_000037 3/13006 2/8600 1/4406 - - - - - - -
?/? c.520+35G>A r.(=) p.(=) g.46943874G>A Copied from the Exome Variant Server GPT2_000038 182/13006 161/8600 21/4406 - - - - - - -
?/? c.520+38del r.(=) p.(=) g.46943877del Copied from the Exome Variant Server GPT2_000039 1/12518 1/8254 0/4264 - - - - - - -
?/? c.544A>G r.(?) p.(Ile182Val) g.46950563A>G Copied from the Exome Variant Server GPT2_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.582C>G r.(=) p.(=) g.46950601C>G Copied from the Exome Variant Server GPT2_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600+6A>C r.(=) p.(=) g.46950625A>C Copied from the Exome Variant Server GPT2_000042 113/13006 0/8600 113/4406 - - - - - - -
?/? c.600+19_600+22del r.(=) p.(=) g.46950638_46950641del Copied from the Exome Variant Server GPT2_000043 229/12518 5/8254 224/4264 - - - - - - -
?/? c.600+34T>C r.(=) p.(=) g.46950653T>C Copied from the Exome Variant Server GPT2_000044 8/13006 0/8600 8/4406 - - - - - - -
?/? c.600+40T>G r.(=) p.(=) g.46950659T>G Copied from the Exome Variant Server GPT2_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600+45T>G r.(=) p.(=) g.46950664T>G Copied from the Exome Variant Server GPT2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600+61C>A r.(=) p.(=) g.46950680C>A Copied from the Exome Variant Server GPT2_000047 2/4566 2/3182 0/1384 - - - - - - -
?/? c.737+51C>T r.(=) p.(=) g.46952720C>T Copied from the Exome Variant Server GPT2_000048 1/13004 1/8600 0/4404 - - - - - - -
?/? c.738-41T>G r.(=) p.(=) g.46956113T>G Copied from the Exome Variant Server GPT2_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.738-39C>A r.(=) p.(=) g.46956115C>A Copied from the Exome Variant Server GPT2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.849C>T r.(=) p.(=) g.46956265C>T Copied from the Exome Variant Server GPT2_000051 7/13006 7/8600 0/4406 - - - - - - -
?/? c.865G>A r.(?) p.(Val289Met) g.46956281G>A Copied from the Exome Variant Server GPT2_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.876G>T r.(=) p.(=) g.46956292G>T Copied from the Exome Variant Server GPT2_000053 17/13006 0/8600 17/4406 - - - - - - -
?/? c.898G>C r.(?) p.(Glu300Gln) g.46956314G>C Copied from the Exome Variant Server GPT2_000054 6/13006 5/8600 1/4406 - - - - - - -
?/? c.912+19G>A r.(=) p.(=) g.46956347G>A Copied from the Exome Variant Server GPT2_000055 2/13006 1/8600 1/4406 - - - - - - -
?/? c.912+36C>T r.(=) p.(=) g.46956364C>T Copied from the Exome Variant Server GPT2_000056 56/13006 51/8600 5/4406 - - - - - - -
?/? c.912+45G>A r.(=) p.(=) g.46956373G>A Copied from the Exome Variant Server GPT2_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912+46A>G r.(=) p.(=) g.46956374A>G Copied from the Exome Variant Server GPT2_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.913-25C>T r.(=) p.(=) g.46958276C>T Copied from the Exome Variant Server GPT2_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.913-15T>A r.(=) p.(=) g.46958286T>A Copied from the Exome Variant Server GPT2_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.921G>A r.(=) p.(=) g.46958309G>A Copied from the Exome Variant Server GPT2_000061 522/13006 2/8600 520/4406 - - - - - - -
?/? c.923C>T r.(?) p.(Ser308Leu) g.46958311C>T Copied from the Exome Variant Server GPT2_000062 2/13006 1/8600 1/4406 - - - - - - -
?/? c.960G>A r.(=) p.(=) g.46958348G>A Copied from the Exome Variant Server GPT2_000063 100/13006 88/8600 12/4406 - - - - - - -
?/? c.964G>T r.(?) p.(Asp322Tyr) g.46958352G>T Copied from the Exome Variant Server GPT2_000064 3/13006 3/8600 0/4406 - - - - - - -
?/? c.984A>G r.(=) p.(=) g.46958372A>G Copied from the Exome Variant Server GPT2_000065 12/13006 12/8600 0/4406 - - - - - - -
?/? c.1001C>T r.(?) p.(Pro334Leu) g.46958389C>T Copied from the Exome Variant Server GPT2_000066 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1037T>C r.(?) p.(Phe346Ser) g.46958425T>C Copied from the Exome Variant Server GPT2_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1054G>A r.(?) p.(Val352Met) g.46958442G>A Copied from the Exome Variant Server GPT2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1068+31T>C r.(=) p.(=) g.46958487T>C Copied from the Exome Variant Server GPT2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1069-50G>A r.(=) p.(=) g.46960787G>A Copied from the Exome Variant Server GPT2_000070 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1069-3T>C r.spl? p.? g.46960834T>C Copied from the Exome Variant Server GPT2_000071 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.46960881G>A Copied from the Exome Variant Server GPT2_000072 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1134C>T r.(=) p.(=) g.46960902C>T Copied from the Exome Variant Server GPT2_000073 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1181+18C>T r.(=) p.(=) g.46960967C>T Copied from the Exome Variant Server GPT2_000074 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1181+23G>C r.(=) p.(=) g.46960972G>C Copied from the Exome Variant Server GPT2_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1181+26G>T r.(=) p.(=) g.46960975G>T Copied from the Exome Variant Server GPT2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1181+29G>A r.(=) p.(=) g.46960978G>A Copied from the Exome Variant Server GPT2_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1181+34G>A r.(=) p.(=) g.46960983G>A Copied from the Exome Variant Server GPT2_000078 8/13006 8/8600 0/4406 - - - - - - -
?/? c.1182-56C>T r.(=) p.(=) g.46962763C>T Copied from the Exome Variant Server GPT2_000079 6/4566 0/3182 6/1384 - - - - - - -
?/? c.1182-43T>A r.(=) p.(=) g.46962776T>A Copied from the Exome Variant Server GPT2_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1182-22_1182-21insG r.(=) p.(=) g.46962797_46962798insG Copied from the Exome Variant Server GPT2_000081 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1240T>C r.(?) p.(Phe414Leu) g.46962877T>C Copied from the Exome Variant Server GPT2_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1267G>A r.(?) p.(Ala423Thr) g.46962904G>A Copied from the Exome Variant Server GPT2_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1268C>T r.(?) p.(Ala423Val) g.46962905C>T Copied from the Exome Variant Server GPT2_000084 80/13006 2/8600 78/4406 - - - - - - -
?/? c.*37T>C r.(=) p.(=) g.46962946T>C Copied from the Exome Variant Server GPT2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*54G>A r.(=) p.(=) g.46962963G>A Copied from the Exome Variant Server GPT2_000086 2/4566 2/3182 0/1384 - - - - - - -
Legend