Full data view for gene PDK1

Information The variants shown are described using the NM_002610.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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.168G>A r.(=) p.(=) g.173421046G>A Copied from the Exome Variant Server PDK1_000001 2/12858 2/8526 0/4332 - - - - - - -
?/? c.197-41T>C r.(=) p.(=) g.173423395T>C Copied from the Exome Variant Server PDK1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.219G>A r.(=) p.(=) g.173423458G>A Copied from the Exome Variant Server PDK1_000003 67/13006 65/8600 2/4406 - - - - - - -
?/? c.330A>G r.(=) p.(=) g.173423569A>G Copied from the Exome Variant Server PDK1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.333A>C r.(?) p.(Gln111His) g.173423572A>C Copied from the Exome Variant Server PDK1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.338+31A>G r.(=) p.(=) g.173423608A>G Copied from the Exome Variant Server PDK1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.339-17A>G r.(=) p.(=) g.173426931A>G Copied from the Exome Variant Server PDK1_000007 1/13004 1/8598 0/4406 - - - - - - -
?/? c.339-7A>G r.(=) p.(=) g.173426941A>G Copied from the Exome Variant Server PDK1_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.393T>C r.(=) p.(=) g.173427002T>C Copied from the Exome Variant Server PDK1_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.399A>C r.(?) p.(Lys133Asn) g.173427008A>C Copied from the Exome Variant Server PDK1_000010 2/13006 0/8600 2/4406 - - - - - - -
?/? c.400G>A r.(?) p.(Ala134Thr) g.173427009G>A Copied from the Exome Variant Server PDK1_000011 99/13006 2/8600 97/4406 - - - - - - -
?/? c.401C>T r.(?) p.(Ala134Val) g.173427010C>T Copied from the Exome Variant Server PDK1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.410+34T>G r.(=) p.(=) g.173427053T>G Copied from the Exome Variant Server PDK1_000013 1338/13004 1036/8598 302/4406 - - - - - - -
?/? c.410+61G>A r.(=) p.(=) g.173427080G>A Copied from the Exome Variant Server PDK1_000014 48/4566 1/3182 47/1384 - - - - - - -
?/? c.410+401C>G r.(=) p.(=) g.173427420C>G Copied from the Exome Variant Server PDK1_000015 71/5728 58/3982 13/1746 - - - - - - -
?/? c.410+424_410+427del r.(=) p.(=) g.173427443_173427446del Copied from the Exome Variant Server PDK1_000016 83/6346 39/4244 44/2102 - - - - - - -
?/? c.411-11G>A r.(=) p.(=) g.173429220G>A Copied from the Exome Variant Server PDK1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.411C>A r.(?) p.(Asp137Glu) g.173429231C>A Copied from the Exome Variant Server PDK1_000018 23/13006 0/8600 23/4406 - - - - - - -
?/? c.426_427insAT r.(?) p.(Arg144Tyrfs*18) g.173429246_173429247insAT Copied from the Exome Variant Server PDK1_000019 1/12520 1/8254 0/4266 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Trp) g.173429250C>T Copied from the Exome Variant Server PDK1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.442C>T r.(?) p.(Arg148*) g.173429262C>T Copied from the Exome Variant Server PDK1_000021 2/13006 1/8600 1/4406 - - - - - - -
?/? c.457A>G r.(?) p.(Ile153Val) g.173429277A>G Copied from the Exome Variant Server PDK1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.482T>C r.(?) p.(Ile161Thr) g.173429302T>C Copied from the Exome Variant Server PDK1_000023 4/13006 2/8600 2/4406 - - - - - - -
?/? c.512C>G r.(?) p.(Pro171Arg) g.173429332C>G Copied from the Exome Variant Server PDK1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.526A>C r.(?) p.(Asn176His) g.173429346A>C Copied from the Exome Variant Server PDK1_000025 6/13006 6/8600 0/4406 - - - - - - -
?/? c.528T>C r.(=) p.(=) g.173429348T>C Copied from the Exome Variant Server PDK1_000026 11/13006 9/8600 2/4406 - - - - - - -
?/? c.547C>T r.(?) p.(Arg183*) g.173429367C>T Copied from the Exome Variant Server PDK1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.548G>A r.(?) p.(Arg183Gln) g.173429368G>A Copied from the Exome Variant Server PDK1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.587A>G r.(?) p.(Asn196Ser) g.173429407A>G Copied from the Exome Variant Server PDK1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.595+45G>C r.(=) p.(=) g.173429460G>C Copied from the Exome Variant Server PDK1_000030 7/13006 7/8600 0/4406 - - - - - - -
?/? c.595+51A>G r.(=) p.(=) g.173429466A>G Copied from the Exome Variant Server PDK1_000031 1/13004 1/8600 0/4404 - - - - - - -
?/? c.596-40G>A r.(=) p.(=) g.173429666G>A Copied from the Exome Variant Server PDK1_000032 2/13004 0/8598 2/4406 - - - - - - -
?/? c.596-21G>T r.(=) p.(=) g.173429685G>T Copied from the Exome Variant Server PDK1_000033 1/13004 1/8598 0/4406 - - - - - - -
?/? c.596-21_596-20insT r.(=) p.(=) g.173429685_173429686insT Copied from the Exome Variant Server PDK1_000034 2/12518 2/8252 0/4266 - - - - - - -
?/? c.691+24_691+25insA r.(=) p.(=) g.173429825_173429826insA Copied from the Exome Variant Server PDK1_000035 6/12514 5/8248 1/4266 - - - - - - -
?/? c.692-48G>T r.(=) p.(=) g.173431536G>T Copied from the Exome Variant Server PDK1_000036 1/13004 1/8598 0/4406 - - - - - - -
?/? c.692-43A>G r.(=) p.(=) g.173431541A>G Copied from the Exome Variant Server PDK1_000037 1/13002 1/8596 0/4406 - - - - - - -
?/? c.709A>G r.(?) p.(Arg237Gly) g.173431601A>G Copied from the Exome Variant Server PDK1_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.713G>A r.(?) p.(Arg238His) g.173431605G>A Copied from the Exome Variant Server PDK1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.734T>G r.(?) p.(Ile245Ser) g.173431626T>G Copied from the Exome Variant Server PDK1_000040 5/13006 1/8600 4/4406 - - - - - - -
?/? c.744C>T r.(=) p.(=) g.173431636C>T Copied from the Exome Variant Server PDK1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.762A>G r.(=) p.(=) g.173431654A>G Copied from the Exome Variant Server PDK1_000042 1/13004 1/8598 0/4406 - - - - - - -
?/? c.769+11_769+13del r.(=) p.(=) g.173431672_173431674del Copied from the Exome Variant Server PDK1_000043 1/12518 0/8252 1/4266 - - - - - - -
?/? c.769+51T>A r.(=) p.(=) g.173431712T>A Copied from the Exome Variant Server PDK1_000044 2/13000 0/8594 2/4406 - - - - - - -
?/? c.769+61G>T r.(=) p.(=) g.173431722G>T Copied from the Exome Variant Server PDK1_000045 1/4560 1/3176 0/1384 - - - - - - -
?/? c.770-24A>G r.(=) p.(=) g.173433445A>G Copied from the Exome Variant Server PDK1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.787C>T r.(?) p.(Pro263Ser) g.173433486C>T Copied from the Exome Variant Server PDK1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.810A>T r.(=) p.(=) g.173433509A>T Copied from the Exome Variant Server PDK1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.826A>G r.(?) p.(Met276Val) g.173433525A>G Copied from the Exome Variant Server PDK1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.840T>G r.(=) p.(=) g.173433539T>G Copied from the Exome Variant Server PDK1_000050 16/13006 15/8600 1/4406 - - - - - - -
?/? c.846+18A>T r.(=) p.(=) g.173433563A>T Copied from the Exome Variant Server PDK1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.847-51_847-50del r.(=) p.(=) g.173435403_173435404del Copied from the Exome Variant Server PDK1_000052 23/12520 23/8254 0/4266 - - - - - - -
?/? c.847-14C>A r.(=) p.(=) g.173435440C>A Copied from the Exome Variant Server PDK1_000053 13/13006 11/8600 2/4406 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.173435486C>T Copied from the Exome Variant Server PDK1_000054 2/13006 1/8600 1/4406 - - - - - - -
?/? c.946-43_946-36del r.(=) p.(=) g.173450963_173450970del Copied from the Exome Variant Server PDK1_000055 35/12520 29/8254 6/4266 - - - - - - -
?/? c.946-40G>A r.(=) p.(=) g.173450966G>A Copied from the Exome Variant Server PDK1_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.946-28A>G r.(=) p.(=) g.173450978A>G Copied from the Exome Variant Server PDK1_000057 19/13006 2/8600 17/4406 - - - - - - -
?/? c.946-25G>A r.(=) p.(=) g.173450981G>A Copied from the Exome Variant Server PDK1_000059 21/13006 19/8600 2/4406 - - - - - - -
?/? c.956G>A r.(?) p.(Arg319Gln) g.173451016G>A Copied from the Exome Variant Server PDK1_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.967G>A r.(?) p.(Val323Ile) g.173451027G>A Copied from the Exome Variant Server PDK1_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1014T>C r.(=) p.(=) g.173451074T>C Copied from the Exome Variant Server PDK1_000065 197/13006 171/8600 26/4406 - - - - - - -
?/? c.1044C>T r.(=) p.(=) g.173451104C>T Copied from the Exome Variant Server PDK1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1047A>C r.(=) p.(=) g.173451107A>C Copied from the Exome Variant Server PDK1_000069 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1056+24G>A r.(=) p.(=) g.173451140G>A Copied from the Exome Variant Server PDK1_000071 33/13006 33/8600 0/4406 - - - - - - -
?/? c.1057-46C>T r.(=) p.(=) g.173457617C>T Copied from the Exome Variant Server PDK1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1057-44G>A r.(=) p.(=) g.173457619G>A Copied from the Exome Variant Server PDK1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1057-44_1057-43del r.(=) p.(=) g.173457619_173457620del Copied from the Exome Variant Server PDK1_000058 10/12520 7/8254 3/4266 - - - - - - -
?/? c.1057-2A>G r.spl? p.? g.173457661A>G Copied from the Exome Variant Server PDK1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1086A>T r.(=) p.(=) g.173457692A>T Copied from the Exome Variant Server PDK1_000062 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.173457701C>T Copied from the Exome Variant Server PDK1_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1096G>A r.(?) p.(Ala366Thr) g.173457702G>A Copied from the Exome Variant Server PDK1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1101A>G r.(=) p.(=) g.173457707A>G Copied from the Exome Variant Server PDK1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1143C>T r.(=) p.(=) g.173457749C>T Copied from the Exome Variant Server PDK1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1144G>A r.(?) p.(Gly382Arg) g.173457750G>A Copied from the Exome Variant Server PDK1_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1152T>C r.(=) p.(=) g.173457758T>C Copied from the Exome Variant Server PDK1_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1170+4A>G r.spl? p.? g.173457780A>G Copied from the Exome Variant Server PDK1_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1171-44T>C r.(=) p.(=) g.173460513T>C Copied from the Exome Variant Server PDK1_000077 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1171-32del r.(=) p.(=) g.173460525del Copied from the Exome Variant Server PDK1_000078 1/12518 1/8252 0/4266 - - - - - - -
?/? c.1254T>C r.(=) p.(=) g.173460640T>C Copied from the Exome Variant Server PDK1_000079 1338/13006 1035/8600 303/4406 - - - - - - -
?/? c.1263C>T r.(=) p.(=) g.173460649C>T Copied from the Exome Variant Server PDK1_000080 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1266C>G r.(=) p.(=) g.173460652C>G Copied from the Exome Variant Server PDK1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1271G>A r.(?) p.(Ser424Asn) g.173460657G>A Copied from the Exome Variant Server PDK1_000082 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*8T>G r.(=) p.(=) g.173460705T>G Copied from the Exome Variant Server PDK1_000083 21/13006 21/8600 0/4406 - - - - - - -
?/? c.*17G>A r.(=) p.(=) g.173460714G>A Copied from the Exome Variant Server PDK1_000084 2/13006 2/8600 0/4406 - - - - - - -
Legend