Unique variants in gene ABCG8

Information The variants shown are described using the NM_022437.2 transcript reference sequence.

209 entries on 3 pages. Showing entries 1 - 100.
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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.-19T>G r.(=) p.(=) g.44066174T>G Copied from the Exome Variant Server ABCG8_000001 3124/10696 1882/7000 1242/3696
1 c.-15A>C r.(=) p.(=) g.44066178A>C Copied from the Exome Variant Server ABCG8_000002 336/10746 1/7038 335/3708
1 c.36G>A r.(=) p.(=) g.44066228G>A Copied from the Exome Variant Server ABCG8_000003 1/11130 1/7308 0/3822
1 c.51C>A r.(=) p.(=) g.44066243C>A Copied from the Exome Variant Server ABCG8_000004 105/11066 1/7258 104/3808
1 c.55G>C r.(?) p.(Asp19His) g.44066247G>C Copied from the Exome Variant Server ABCG8_000005 598/11030 402/7250 196/3780
1 c.63+14_63+15del r.(=) p.(=) g.44066269_44066270del Copied from the Exome Variant Server ABCG8_000006 2/10334 1/6722 1/3612
1 c.63+40G>A r.(=) p.(=) g.44066295G>A Copied from the Exome Variant Server ABCG8_000007 45/10380 0/6758 45/3622
1 c.64-38C>T r.(=) p.(=) g.44071608C>T Copied from the Exome Variant Server ABCG8_000008 4/13006 4/8600 0/4406
1 c.64-31A>T r.(=) p.(=) g.44071615A>T Copied from the Exome Variant Server ABCG8_000010 1/13006 1/8600 0/4406
1 c.64-25C>T r.(=) p.(=) g.44071621C>T Copied from the Exome Variant Server ABCG8_000012 1/13006 1/8600 0/4406
1 c.64-21C>A r.(=) p.(=) g.44071625C>A Copied from the Exome Variant Server ABCG8_000014 4159/13006 3300/8600 859/4406
1 c.64-14C>T r.(=) p.(=) g.44071632C>T Copied from the Exome Variant Server ABCG8_000016 1/13006 1/8600 0/4406
1 c.64-13C>G r.(=) p.(=) g.44071633C>G Copied from the Exome Variant Server ABCG8_000018 1/13006 0/8600 1/4406
1 c.64-7C>T r.(=) p.(=) g.44071639C>T Copied from the Exome Variant Server ABCG8_000020 5123/13006 3311/8600 1812/4406
1 c.76A>G r.(?) p.(Arg26Gly) g.44071658A>G Copied from the Exome Variant Server ABCG8_000022 1/13006 1/8600 0/4406
1 c.94A>G r.(?) p.(Ser32Gly) g.44071676A>G Copied from the Exome Variant Server ABCG8_000024 105/13006 0/8600 105/4406
1 c.97G>A r.(?) p.(Asp33Asn) g.44071679G>A Copied from the Exome Variant Server ABCG8_000025 7/13006 0/8600 7/4406
1 c.129G>T r.(?) p.(Gln43His) g.44071711G>T Copied from the Exome Variant Server ABCG8_000027 1/13006 1/8600 0/4406
1 c.154C>G r.(?) p.(Leu52Val) g.44071736C>G Copied from the Exome Variant Server ABCG8_000029 95/13006 0/8600 95/4406
1 c.161A>G r.(?) p.(Tyr54Cys) g.44071743A>G Copied from the Exome Variant Server ABCG8_000031 4173/13006 3313/8600 860/4406
1 c.165+13C>T r.(=) p.(=) g.44071760C>T Copied from the Exome Variant Server ABCG8_000033 92/13006 82/8600 10/4406
1 c.165+16G>T r.(=) p.(=) g.44071763G>T Copied from the Exome Variant Server ABCG8_000035 1/13006 0/8600 1/4406
1 c.165+23G>A r.(=) p.(=) g.44071770G>A Copied from the Exome Variant Server ABCG8_000037 1/13006 1/8600 0/4406
1 c.165+41G>A r.(=) p.(=) g.44071788G>A Copied from the Exome Variant Server ABCG8_000039 113/13006 103/8600 10/4406
1 c.166-34G>A r.(=) p.(=) g.44073260G>A Copied from the Exome Variant Server ABCG8_000041 1/13006 1/8600 0/4406
1 c.166-24G>A r.(=) p.(=) g.44073270G>A Copied from the Exome Variant Server ABCG8_000043 23/13006 20/8600 3/4406
1 c.220C>G r.(?) p.(Pro74Ala) g.44073348C>G Copied from the Exome Variant Server ABCG8_000045 2/13006 2/8600 0/4406
1 c.239G>A r.(?) p.(Cys80Tyr) g.44073367G>A Copied from the Exome Variant Server ABCG8_000047 299/13006 3/8600 296/4406
1 c.255G>T r.(?) p.(Glu85Asp) g.44073383G>T Copied from the Exome Variant Server ABCG8_000050 1/13006 1/8600 0/4406
1 c.263T>C r.(?) p.(Ile88Thr) g.44073391T>C Copied from the Exome Variant Server ABCG8_000053 1/13006 0/8600 1/4406
1 c.265C>G r.(?) p.(Gln89Glu) g.44073393C>G Copied from the Exome Variant Server ABCG8_000009 1/13006 1/8600 0/4406
1 c.275G>A r.(?) p.(Ser92Asn) g.44073403G>A Copied from the Exome Variant Server ABCG8_000011 2/13006 2/8600 0/4406
1 c.291T>C r.(=) p.(=) g.44073419T>C Copied from the Exome Variant Server ABCG8_000013 2/13006 1/8600 1/4406
1 c.314G>A r.(?) p.(Gly105Glu) g.44073442G>A Copied from the Exome Variant Server ABCG8_000015 1/13006 0/8600 1/4406
1 c.322+5C>T r.spl? p.? g.44073455C>T Copied from the Exome Variant Server ABCG8_000017 1/13006 1/8600 0/4406
1 c.322+6G>A r.(=) p.(=) g.44073456G>A Copied from the Exome Variant Server ABCG8_000019 1/13006 1/8600 0/4406
1 c.323-47C>A r.(=) p.(=) g.44078676C>A Copied from the Exome Variant Server ABCG8_000021 177/13006 2/8600 175/4406
1 c.323-31G>A r.(=) p.(=) g.44078692G>A Copied from the Exome Variant Server ABCG8_000023 1/13006 1/8600 0/4406
1 c.323-4G>T r.spl? p.? g.44078719G>T Copied from the Exome Variant Server ABCG8_000026 2/13006 1/8600 1/4406
1 c.342G>A r.(=) p.(=) g.44078742G>A Copied from the Exome Variant Server ABCG8_000028 2/13006 1/8600 1/4406
1 c.361C>T r.(?) p.(Arg121*) g.44078761C>T Copied from the Exome Variant Server ABCG8_000030 1/13006 1/8600 0/4406
1 c.362G>A r.(?) p.(Arg121Gln) g.44078762G>A Copied from the Exome Variant Server ABCG8_000032 2/13006 1/8600 1/4406
1 c.369C>T r.(=) p.(=) g.44078769C>T Copied from the Exome Variant Server ABCG8_000034 1/13006 1/8600 0/4406
1 c.370G>A r.(?) p.(Gly124Ser) g.44078770G>A Copied from the Exome Variant Server ABCG8_000036 2/13006 2/8600 0/4406
1 c.373G>A r.(?) p.(Gly125Ser) g.44078773G>A Copied from the Exome Variant Server ABCG8_000038 1/13006 1/8600 0/4406
1 c.450C>T r.(=) p.(=) g.44078850C>T Copied from the Exome Variant Server ABCG8_000040 1/13006 0/8600 1/4406
1 c.453G>A r.(=) p.(=) g.44078853G>A Copied from the Exome Variant Server ABCG8_000042 877/13006 533/8600 344/4406
1 c.491G>A r.(?) p.(Arg164Gln) g.44078891G>A Copied from the Exome Variant Server ABCG8_000044 48/13006 0/8600 48/4406
1 c.539C>G r.(?) p.(Ser180Cys) g.44078939C>G Copied from the Exome Variant Server ABCG8_000046 1/13006 0/8600 1/4406
1 c.550C>T r.(?) p.(Arg184Cys) g.44078950C>T Copied from the Exome Variant Server ABCG8_000048 1/13006 1/8600 0/4406
1 c.561+5C>G r.spl? p.? g.44078966C>G Copied from the Exome Variant Server ABCG8_000052 2/13006 2/8600 0/4406
1 c.561+14C>T r.(=) p.(=) g.44078975C>T Copied from the Exome Variant Server ABCG8_000055 5/13006 5/8600 0/4406
1 c.561+43T>C r.(=) p.(=) g.44079004T>C Copied from the Exome Variant Server ABCG8_000057 7737/13006 4793/8600 2944/4406
1 c.562-43A>G r.(=) p.(=) g.44079450A>G Copied from the Exome Variant Server ABCG8_000059 1/12994 0/8594 1/4400
1 c.562-40A>T r.(=) p.(=) g.44079453A>T Copied from the Exome Variant Server ABCG8_000061 1/12998 1/8594 0/4404
1 c.562-32G>A r.(=) p.(=) g.44079461G>A Copied from the Exome Variant Server ABCG8_000049 2/13002 0/8596 2/4406
1 c.562-23T>A r.(=) p.(=) g.44079470T>A Copied from the Exome Variant Server ABCG8_000051 1/13004 1/8598 0/4406
1 c.570C>T r.(=) p.(=) g.44079501C>T Copied from the Exome Variant Server ABCG8_000054 8/13006 0/8600 8/4406
1 c.576C>T r.(=) p.(=) g.44079507C>T Copied from the Exome Variant Server ABCG8_000056 4/13006 4/8600 0/4406
1 c.578C>T r.(?) p.(Ala193Val) g.44079509C>T Copied from the Exome Variant Server ABCG8_000058 1/13006 1/8600 0/4406
1 c.601G>A r.(?) p.(Ala201Thr) g.44079532G>A Copied from the Exome Variant Server ABCG8_000060 1/13006 0/8600 1/4406
1 c.611G>A r.(?) p.(Arg204His) g.44079542G>A Copied from the Exome Variant Server ABCG8_000062 2/13006 2/8600 0/4406
1 c.613G>A r.(?) p.(Val205Met) g.44079544G>A Copied from the Exome Variant Server ABCG8_000063 1/13006 0/8600 1/4406
1 c.619A>G r.(?) p.(Asn207Asp) g.44079550A>G Copied from the Exome Variant Server ABCG8_000064 1/13006 1/8600 0/4406
1 c.628G>A r.(?) p.(Val210Met) g.44079559G>A Copied from the Exome Variant Server ABCG8_000065 179/13006 2/8600 177/4406
1 c.653G>T r.(?) p.(Arg218Leu) g.44079584G>T Copied from the Exome Variant Server ABCG8_000066 1/13006 0/8600 1/4406
1 c.674T>A r.(?) p.(Val225Glu) g.44079605T>A Copied from the Exome Variant Server ABCG8_000067 4/13006 0/8600 4/4406
1 c.675G>A r.(=) p.(=) g.44079606G>A Copied from the Exome Variant Server ABCG8_000068 698/13006 417/8600 281/4406
1 c.694+41C>T r.(=) p.(=) g.44079666C>T Copied from the Exome Variant Server ABCG8_000069 5/13004 4/8598 1/4406
1 c.694+45C>T r.(=) p.(=) g.44079670C>T Copied from the Exome Variant Server ABCG8_000070 1/13004 1/8598 0/4406
1 c.694+46C>T r.(=) p.(=) g.44079671C>T Copied from the Exome Variant Server ABCG8_000071 747/13002 412/8598 335/4404
1 c.695-34A>T r.(=) p.(=) g.44079704A>T Copied from the Exome Variant Server ABCG8_000072 3/13006 2/8600 1/4406
1 c.695-17_695-16del r.(=) p.(=) g.44079721_44079722del Copied from the Exome Variant Server ABCG8_000073 109/12520 1/8254 108/4266
1 c.695-7T>C r.(=) p.(=) g.44079731T>C Copied from the Exome Variant Server ABCG8_000074 2/13006 2/8600 0/4406
1 c.709G>A r.(?) p.(Asp237Asn) g.44079752G>A Copied from the Exome Variant Server ABCG8_000075 1/13006 1/8600 0/4406
1 c.711C>G r.(?) p.(Asp237Glu) g.44079754C>G Copied from the Exome Variant Server ABCG8_000076 1/13006 0/8600 1/4406
1 c.712G>A r.(?) p.(Glu238Lys) g.44079755G>A Copied from the Exome Variant Server ABCG8_000077 12/13006 11/8600 1/4406
1 c.715C>A r.(?) p.(Pro239Thr) g.44079758C>A Copied from the Exome Variant Server ABCG8_000078 1/13006 1/8600 0/4406
1 c.729C>T r.(=) p.(=) g.44079772C>T Copied from the Exome Variant Server ABCG8_000079 4/13006 0/8600 4/4406
1 c.738C>T r.(=) p.(=) g.44079781C>T Copied from the Exome Variant Server ABCG8_000080 1/13006 0/8600 1/4406
1 c.762C>T r.(=) p.(=) g.44079805C>T Copied from the Exome Variant Server ABCG8_000081 2/13006 0/8600 2/4406
1 c.776C>T r.(?) p.(Ala259Val) g.44079819C>T Copied from the Exome Variant Server ABCG8_000082 1/13006 1/8600 0/4406
1 c.782G>T r.(?) p.(Gly261Val) g.44079825G>T Copied from the Exome Variant Server ABCG8_000083 1/13006 1/8600 0/4406
1 c.804C>T r.(=) p.(=) g.44079847C>T Copied from the Exome Variant Server ABCG8_000084 1/13006 1/8600 0/4406
1 c.811C>T r.(?) p.(Gln271*) g.44079854C>T Copied from the Exome Variant Server ABCG8_000085 1/13006 1/8600 0/4406
1 c.861G>A r.(=) p.(=) g.44079904G>A Copied from the Exome Variant Server ABCG8_000086 3/13006 0/8600 3/4406
1 c.863C>T r.(?) p.(Ser288Phe) g.44079906C>T Copied from the Exome Variant Server ABCG8_000087 2/13006 0/8600 2/4406
1 c.888G>T r.(=) p.(=) g.44079931G>T Copied from the Exome Variant Server ABCG8_000088 1/13006 0/8600 1/4406
1 c.900G>A r.(?) p.(Met300Ile) g.44079943G>A Copied from the Exome Variant Server ABCG8_000089 1/13006 0/8600 1/4406
1 c.964+26G>T r.(=) p.(=) g.44080033G>T Copied from the Exome Variant Server ABCG8_000090 1/12988 1/8586 0/4402
1 c.964+44C>T r.(=) p.(=) g.44080051C>T Copied from the Exome Variant Server ABCG8_000091 17/12962 0/8572 17/4390
1 c.964+46C>T r.(=) p.(=) g.44080053C>T Copied from the Exome Variant Server ABCG8_000092 87/12952 1/8566 86/4386
1 c.974C>G r.(?) p.(Thr325Ser) g.44099124C>G Copied from the Exome Variant Server ABCG8_000093 1/13006 1/8600 0/4406
1 c.1017G>A r.(=) p.(=) g.44099167G>A Copied from the Exome Variant Server ABCG8_000094 1/13006 1/8600 0/4406
1 c.1024G>C r.(?) p.(Ala342Pro) g.44099174G>C Copied from the Exome Variant Server ABCG8_000095 1/13006 0/8600 1/4406
1 c.1041C>G r.(=) p.(=) g.44099191C>G Copied from the Exome Variant Server ABCG8_000096 1/13006 1/8600 0/4406
1 c.1061G>C r.(?) p.(Arg354Pro) g.44099211G>C Copied from the Exome Variant Server ABCG8_000097 1/13006 0/8600 1/4406
1 c.1063G>C r.(?) p.(Asp355His) g.44099213G>C Copied from the Exome Variant Server ABCG8_000098 1/13006 1/8600 0/4406
1 c.1083G>A r.(?) p.(Trp361*) g.44099233G>A Copied from the Exome Variant Server ABCG8_000099 13/13006 10/8600 3/4406
1 c.1093A>G r.(?) p.(Thr365Ala) g.44099243A>G Copied from the Exome Variant Server ABCG8_000100 15/13006 1/8600 14/4406
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