All transcript variants in gene GPKOW

Information The variants shown are described using the NM_015698.4 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.11C>G r.(?) p.(Ser4Cys) g.48980062G>C Copied from the Exome Variant Server GPKOW_000063 4/10558 3/6726 1/3832
?/? c.13A>G r.(?) p.(Lys5Glu) g.48980060T>C Copied from the Exome Variant Server GPKOW_000062 1/10558 0/6727 1/3831
?/? c.30G>A r.(=) p.(=) g.48980043C>T Copied from the Exome Variant Server GPKOW_000061 1/10558 0/6728 1/3830
?/? c.55A>G r.(?) p.(Ile19Val) g.48980018T>C Copied from the Exome Variant Server GPKOW_000060 6/10561 0/6728 6/3833
?/? c.63C>T r.(=) p.(=) g.48980010G>A Copied from the Exome Variant Server GPKOW_000059 1/10561 0/6728 1/3833
?/? c.67T>C r.(?) p.(Phe23Leu) g.48980006A>G Copied from the Exome Variant Server GPKOW_000058 1/10561 1/6728 0/3833
?/? c.85C>A r.(=) p.(=) g.48979988G>T Copied from the Exome Variant Server GPKOW_000057 1/10561 1/6726 0/3835
?/? c.176+6G>T r.(=) p.(=) g.48979891C>A Copied from the Exome Variant Server GPKOW_000056 1/10561 0/6726 1/3835
?/? c.177-49C>G r.(=) p.(=) g.48979175G>C Copied from the Exome Variant Server GPKOW_000055 72/10562 2/6727 70/3835
?/? c.236G>A r.(?) p.(Arg79His) g.48979067C>T Copied from the Exome Variant Server GPKOW_000054 1/10563 1/6728 0/3835
?/? c.254G>A r.(?) p.(Arg85Gln) g.48979049C>T Copied from the Exome Variant Server GPKOW_000053 7/10563 6/6728 1/3835
?/? c.291G>A r.(=) p.(=) g.48979012C>T Copied from the Exome Variant Server GPKOW_000052 6/10563 6/6728 0/3835
?/? c.329C>T r.(?) p.(Ala110Val) g.48978974G>A Copied from the Exome Variant Server GPKOW_000051 1/10563 1/6728 0/3835
?/? c.331+11C>T r.(=) p.(=) g.48978961G>A Copied from the Exome Variant Server GPKOW_000050 1/10563 1/6728 0/3835
?/? c.356G>T r.(?) p.(Arg119Ile) g.48978848C>A Copied from the Exome Variant Server GPKOW_000049 1/10563 0/6728 1/3835
?/? c.366G>A r.(=) p.(=) g.48978838C>T Copied from the Exome Variant Server GPKOW_000048 8/10563 7/6728 1/3835
?/? c.385G>A r.(?) p.(Ala129Thr) g.48978819C>T Copied from the Exome Variant Server GPKOW_000047 16/10563 16/6728 0/3835
?/? c.420C>T r.(=) p.(=) g.48978784G>A Copied from the Exome Variant Server GPKOW_000046 1/10563 1/6728 0/3835
?/? c.429G>C r.(=) p.(=) g.48978775C>G Copied from the Exome Variant Server GPKOW_000045 53/10563 0/6728 53/3835
?/? c.445C>T r.(?) p.(Arg149Trp) g.48978759G>A Copied from the Exome Variant Server GPKOW_000044 1/10561 1/6727 0/3834
?/? c.456+10C>T r.(=) p.(=) g.48978738G>A Copied from the Exome Variant Server GPKOW_000043 963/10546 8/6715 955/3831
?/? c.483G>A r.(=) p.(=) g.48976141C>T Copied from the Exome Variant Server GPKOW_000042 3/10563 3/6728 0/3835
?/? c.489C>T r.(=) p.(=) g.48976135G>A Copied from the Exome Variant Server GPKOW_000041 3/10563 0/6728 3/3835
?/? c.518G>A r.(?) p.(Arg173Gln) g.48976106C>T Copied from the Exome Variant Server GPKOW_000040 2/10563 1/6728 1/3835
?/? c.541G>A r.(?) p.(Glu181Lys) g.48976083C>T Copied from the Exome Variant Server GPKOW_000039 1/10563 1/6728 0/3835
?/? c.566+10G>C r.(=) p.(=) g.48976048C>G Copied from the Exome Variant Server GPKOW_000038 4/10563 0/6728 4/3835
?/? c.566+30G>C r.(=) p.(=) g.48976028C>G Copied from the Exome Variant Server GPKOW_000037 1/10562 1/6727 0/3835
?/? c.566+41A>G r.(=) p.(=) g.48976017T>C Copied from the Exome Variant Server GPKOW_000035 1/10561 0/6727 1/3834
?/? c.566+44C>T r.(=) p.(=) g.48976014G>A Copied from the Exome Variant Server GPKOW_000033 1/10561 1/6727 0/3834
?/? c.625C>T r.(=) p.(=) g.48974106G>A Copied from the Exome Variant Server GPKOW_000031 1/10563 1/6728 0/3835
?/? c.780+19C>T r.(=) p.(=) g.48973932G>A Copied from the Exome Variant Server GPKOW_000029 2/10562 2/6727 0/3835
?/? c.781-28A>G r.(=) p.(=) g.48973544T>C Copied from the Exome Variant Server GPKOW_000027 1/10563 1/6728 0/3835
?/? c.781-22C>T r.(=) p.(=) g.48973538G>A Copied from the Exome Variant Server GPKOW_000025 1/10563 1/6728 0/3835
?/? c.821G>A r.(?) p.(Arg274His) g.48973476C>T Copied from the Exome Variant Server GPKOW_000036 1/10563 1/6728 0/3835
?/? c.863A>G r.(?) p.(Tyr288Cys) g.48973434T>C Copied from the Exome Variant Server GPKOW_000034 4/10563 1/6728 3/3835
?/? c.869G>A r.(?) p.(Arg290Gln) g.48973428C>T Copied from the Exome Variant Server GPKOW_000032 2/10563 0/6728 2/3835
?/? c.907G>A r.(?) p.(Asp303Asn) g.48973390C>T Copied from the Exome Variant Server GPKOW_000030 2/10563 2/6728 0/3835
?/? c.913+27G>A r.(=) p.(=) g.48973357C>T Copied from the Exome Variant Server GPKOW_000028 1/10563 1/6728 0/3835
?/? c.913+50G>A r.(=) p.(=) g.48973334C>T Copied from the Exome Variant Server GPKOW_000026 2/10563 0/6728 2/3835
?/? c.914-47_914-45del r.(=) p.(=) g.48972722_48972724del Copied from the Exome Variant Server GPKOW_000024 938/10205 7/6484 931/3721
?/? c.914-18C>T r.(=) p.(=) g.48972695G>A Copied from the Exome Variant Server GPKOW_000023 1/10563 0/6728 1/3835
?/? c.1017-43A>G r.(=) p.(=) g.48972411T>C Copied from the Exome Variant Server GPKOW_000022 1/10563 1/6728 0/3835
?/? c.1026G>C r.(=) p.(=) g.48972359C>G Copied from the Exome Variant Server GPKOW_000021 1/10563 0/6728 1/3835
?/? c.1087C>T r.(?) p.(Arg363Cys) g.48972298G>A Copied from the Exome Variant Server GPKOW_000020 1/10563 0/6728 1/3835
?/? c.1110G>A r.(?) p.(Met370Ile) g.48972275C>T Copied from the Exome Variant Server GPKOW_000019 1/10563 1/6728 0/3835
?/? c.1140+39G>C r.(=) p.(=) g.48972206C>G Copied from the Exome Variant Server GPKOW_000018 1/10563 1/6728 0/3835
?/? c.1140+48C>T r.(=) p.(=) g.48972197G>A Copied from the Exome Variant Server GPKOW_000017 1/10563 1/6728 0/3835
?/? c.1141-47C>T r.(=) p.(=) g.48972196G>A Copied from the Exome Variant Server GPKOW_000016 254/10563 240/6728 14/3835
?/? c.1144A>C r.(?) p.(Ile382Leu) g.48972146T>G Copied from the Exome Variant Server GPKOW_000015 1/10563 0/6728 1/3835
?/? c.1172C>T r.(?) p.(Thr391Ile) g.48972118G>A Copied from the Exome Variant Server GPKOW_000013 3/10563 3/6728 0/3835
?/? c.1178T>C r.(?) p.(Val393Ala) g.48972112A>G Copied from the Exome Variant Server GPKOW_000011 1/10563 0/6728 1/3835
?/? c.1184G>A r.(?) p.(Arg395Gln) g.48972106C>T Copied from the Exome Variant Server GPKOW_000009 3/10563 3/6728 0/3835
?/? c.1210+12C>T r.(=) p.(=) g.48972068G>A Copied from the Exome Variant Server GPKOW_000007 1/10563 1/6728 0/3835
?/? c.1211-22C>G r.(=) p.(=) g.48970898G>C Copied from the Exome Variant Server GPKOW_000005 137/10563 1/6728 136/3835
?/? c.1211-15C>A r.(=) p.(=) g.48970891G>T Copied from the Exome Variant Server GPKOW_000004 1/10563 1/6728 0/3835
?/? c.1266G>A r.(=) p.(=) g.48970821C>T Copied from the Exome Variant Server GPKOW_000003 1/10563 0/6728 1/3835
?/? c.1297-42A>G r.(=) p.(=) g.48970735T>C Copied from the Exome Variant Server GPKOW_000002 2270/10563 14/6728 2256/3835
?/? c.1297-39T>C r.(=) p.(=) g.48970732A>G Copied from the Exome Variant Server GPKOW_000001 1/10563 1/6728 0/3835
?/? c.1297-9C>G r.(=) p.(=) g.48970702G>C Copied from the Exome Variant Server GPKOW_000014 2/10563 0/6728 2/3835
?/? c.1297-4C>T r.spl? p.? g.48970697G>A Copied from the Exome Variant Server GPKOW_000012 258/10563 242/6728 16/3835
?/? c.1327C>T r.(?) p.(Arg443Trp) g.48970663G>A Copied from the Exome Variant Server GPKOW_000010 10/10563 9/6728 1/3835
?/? c.1335G>A r.(=) p.(=) g.48970655C>T Copied from the Exome Variant Server GPKOW_000008 1302/10563 8/6728 1294/3835
?/? c.*2C>T r.(=) p.(=) g.48970557G>A Copied from the Exome Variant Server GPKOW_000006 1/10563 0/6728 1/3835
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