Unique variants in gene ABCG4

Information The variants shown are described using the NM_022169.4 transcript reference sequence.

109 entries on 2 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.-12-23C>T r.(=) p.(=) g.119020641C>T Copied from the Exome Variant Server ABCG4_000001 1/12984 1/8586 0/4398
1 c.-3G>A r.(=) p.(=) g.119020673G>A Copied from the Exome Variant Server ABCG4_000002 2/12986 0/8586 2/4400
1 c.44C>T r.(?) p.(Pro15Leu) g.119020719C>T Copied from the Exome Variant Server ABCG4_000003 98/12984 80/8586 18/4398
1 c.78C>T r.(=) p.(=) g.119020753C>T Copied from the Exome Variant Server ABCG4_000004 1/12990 1/8590 0/4400
1 c.183C>T r.(=) p.(=) g.119020858C>T Copied from the Exome Variant Server ABCG4_000005 8/12990 8/8590 0/4400
1 c.225C>T r.(=) p.(=) g.119020900C>T Copied from the Exome Variant Server ABCG4_000006 1/12990 1/8590 0/4400
1 c.239-22A>G r.(=) p.(=) g.119024714A>G Copied from the Exome Variant Server ABCG4_000007 3/12990 1/8590 2/4400
1 c.281G>A r.(?) p.(Arg94His) g.119024778G>A Copied from the Exome Variant Server ABCG4_000008 1/12990 1/8590 0/4400
1 c.284G>A r.(?) p.(Arg95Gln) g.119024781G>A Copied from the Exome Variant Server ABCG4_000009 1/12990 1/8590 0/4400
1 c.311C>G r.(?) p.(Ser104*) g.119024808C>G Copied from the Exome Variant Server ABCG4_000010 1/12990 1/8590 0/4400
1 c.356+25G>A r.(=) p.(=) g.119024878G>A Copied from the Exome Variant Server ABCG4_000011 1/12990 0/8590 1/4400
1 c.356+45A>G r.(=) p.(=) g.119024898A>G Copied from the Exome Variant Server ABCG4_000012 1/12990 1/8590 0/4400
1 c.357-39A>G r.(=) p.(=) g.119024931A>G Copied from the Exome Variant Server ABCG4_000013 1360/12990 653/8590 707/4400
1 c.439A>G r.(?) p.(Met147Val) g.119025052A>G Copied from the Exome Variant Server ABCG4_000014 1/12990 1/8590 0/4400
1 c.470C>T r.(?) p.(Thr157Met) g.119025083C>T Copied from the Exome Variant Server ABCG4_000015 1/12990 1/8590 0/4400
1 c.490-59G>A r.(=) p.(=) g.119025176G>A Copied from the Exome Variant Server ABCG4_000016 1/4566 0/3182 1/1384
1 c.525G>A r.(=) p.(=) g.119025270G>A Copied from the Exome Variant Server ABCG4_000017 2/12990 2/8590 0/4400
1 c.534G>A r.(=) p.(=) g.119025279G>A Copied from the Exome Variant Server ABCG4_000018 372/12990 1/8590 371/4400
1 c.540+3G>A r.spl? p.? g.119025288G>A Copied from the Exome Variant Server ABCG4_000019 1/12990 1/8590 0/4400
1 c.540+8G>A r.(=) p.(=) g.119025293G>A Copied from the Exome Variant Server ABCG4_000020 12/12990 0/8590 12/4400
1 c.540+19C>T r.(=) p.(=) g.119025304C>T Copied from the Exome Variant Server ABCG4_000021 1/12990 1/8590 0/4400
1 c.540+40T>C r.(=) p.(=) g.119025325T>C Copied from the Exome Variant Server ABCG4_000022 1/12990 0/8590 1/4400
1 c.541-37C>G r.(=) p.(=) g.119025443C>G Copied from the Exome Variant Server ABCG4_000023 347/12990 5/8590 342/4400
1 c.541-34C>T r.(=) p.(=) g.119025446C>T Copied from the Exome Variant Server ABCG4_000024 1/12990 1/8590 0/4400
1 c.541-19A>T r.(=) p.(=) g.119025461A>T Copied from the Exome Variant Server ABCG4_000025 1/12990 1/8590 0/4400
1 c.541G>A r.(?) p.(Val181Met) g.119025480G>A Copied from the Exome Variant Server ABCG4_000026 1/12990 1/8590 0/4400
1 c.555G>C r.(=) p.(=) g.119025494G>C Copied from the Exome Variant Server ABCG4_000027 1/12990 1/8590 0/4400
1 c.558G>A r.(=) p.(=) g.119025497G>A Copied from the Exome Variant Server ABCG4_000028 1/12990 0/8590 1/4400
1 c.575C>T r.(?) p.(Ser192Leu) g.119025514C>T Copied from the Exome Variant Server ABCG4_000029 3/12990 0/8590 3/4400
1 c.587C>T r.(?) p.(Thr196Met) g.119025526C>T Copied from the Exome Variant Server ABCG4_000030 15/12990 14/8590 1/4400
1 c.588G>A r.(=) p.(=) g.119025527G>A Copied from the Exome Variant Server ABCG4_000031 1/12990 1/8590 0/4400
1 c.607del r.(?) p.(Gly203Alafs*41) g.119025546del Copied from the Exome Variant Server ABCG4_000032 132/12518 83/8254 49/4264
1 c.633C>T r.(=) p.(=) g.119025572C>T Copied from the Exome Variant Server ABCG4_000033 1/12990 0/8590 1/4400
1 c.657G>A r.(=) p.(=) g.119025596G>A Copied from the Exome Variant Server ABCG4_000034 1/12990 0/8590 1/4400
1 c.686+15C>T r.(=) p.(=) g.119025640C>T Copied from the Exome Variant Server ABCG4_000035 26/12990 0/8590 26/4400
1 c.687-39C>T r.(=) p.(=) g.119027000C>T Copied from the Exome Variant Server ABCG4_000036 1/12990 1/8590 0/4400
1 c.687-30G>T r.(=) p.(=) g.119027009G>T Copied from the Exome Variant Server ABCG4_000037 5/12990 4/8590 1/4400
1 c.759C>T r.(=) p.(=) g.119027111C>T Copied from the Exome Variant Server ABCG4_000038 1/12990 1/8590 0/4400
1 c.790C>T r.(?) p.(Leu264Phe) g.119027142C>T Copied from the Exome Variant Server ABCG4_000040 1/12990 0/8590 1/4400
1 c.798G>A r.(=) p.(=) g.119027150G>A Copied from the Exome Variant Server ABCG4_000042 4/12990 0/8590 4/4400
1 c.810+15G>A r.(=) p.(=) g.119027177G>A Copied from the Exome Variant Server ABCG4_000044 1/12990 1/8590 0/4400
1 c.811-35G>A r.(=) p.(=) g.119027239G>A Copied from the Exome Variant Server ABCG4_000046 2/12990 1/8590 1/4400
1 c.811-15C>T r.(=) p.(=) g.119027259C>T Copied from the Exome Variant Server ABCG4_000048 1/12990 1/8590 0/4400
1 c.811-9C>T r.(=) p.(=) g.119027265C>T Copied from the Exome Variant Server ABCG4_000039 1/12990 1/8590 0/4400
1 c.811-5T>C r.spl? p.? g.119027269T>C Copied from the Exome Variant Server ABCG4_000041 1/12990 1/8590 0/4400
1 c.811-3C>T r.spl? p.? g.119027271C>T Copied from the Exome Variant Server ABCG4_000043 4/12990 0/8590 4/4400
1 c.846A>G r.(=) p.(=) g.119027309A>G Copied from the Exome Variant Server ABCG4_000045 14/12990 0/8590 14/4400
1 c.886G>A r.(?) p.(Gly296Ser) g.119027349G>A Copied from the Exome Variant Server ABCG4_000047 1/12990 1/8590 0/4400
1 c.926-38T>C r.(=) p.(=) g.119027544T>C Copied from the Exome Variant Server ABCG4_000049 2/12990 0/8590 2/4400
1 c.926-37G>A r.(=) p.(=) g.119027545G>A Copied from the Exome Variant Server ABCG4_000050 1634/12990 656/8590 978/4400
1 c.926-7T>A r.(=) p.(=) g.119027575T>A Copied from the Exome Variant Server ABCG4_000051 2/12990 2/8590 0/4400
1 c.962A>G r.(?) p.(Asn321Ser) g.119027618A>G Copied from the Exome Variant Server ABCG4_000052 3/12990 3/8590 0/4400
1 c.975C>T r.(=) p.(=) g.119027631C>T Copied from the Exome Variant Server ABCG4_000053 140/12990 1/8590 139/4400
1 c.999C>T r.(=) p.(=) g.119027655C>T Copied from the Exome Variant Server ABCG4_000054 2/12990 2/8590 0/4400
1 c.1002T>C r.(=) p.(=) g.119027658T>C Copied from the Exome Variant Server ABCG4_000055 45/12990 0/8590 45/4400
1 c.1035C>G r.(?) p.(Asn345Lys) g.119027691C>G Copied from the Exome Variant Server ABCG4_000056 984/12990 7/8590 977/4400
1 c.1043C>G r.(?) p.(Pro348Arg) g.119027699C>G Copied from the Exome Variant Server ABCG4_000057 5/12990 0/8590 5/4400
1 c.1055C>T r.(?) p.(Pro352Leu) g.119027711C>T Copied from the Exome Variant Server ABCG4_000058 273/12990 16/8590 257/4400
1 c.1068G>A r.(=) p.(=) g.119027724G>A Copied from the Exome Variant Server ABCG4_000059 4/12990 2/8590 2/4400
1 c.1068+13G>A r.(=) p.(=) g.119027737G>A Copied from the Exome Variant Server ABCG4_000060 1/12990 0/8590 1/4400
1 c.1068+47G>A r.(=) p.(=) g.119027771G>A Copied from the Exome Variant Server ABCG4_000061 1/12990 1/8590 0/4400
1 c.1069-22C>T r.(=) p.(=) g.119028922C>T Copied from the Exome Variant Server ABCG4_000062 47/12990 38/8590 9/4400
1 c.1069-14_1069-13insTTC r.(=) p.(=) g.119028930_119028931insTTC Copied from the Exome Variant Server ABCG4_000063 1311/12518 10/8254 1301/4264
1 c.1080C>T r.(=) p.(=) g.119028955C>T Copied from the Exome Variant Server ABCG4_000064 1/12990 0/8590 1/4400
1 c.1082T>C r.(?) p.(Ile361Thr) g.119028957T>C Copied from the Exome Variant Server ABCG4_000065 1/12990 1/8590 0/4400
1 c.1166C>T r.(?) p.(Thr389Met) g.119029041C>T Copied from the Exome Variant Server ABCG4_000066 3/12990 1/8590 2/4400
1 c.1167+8G>A r.(=) p.(=) g.119029050G>A Copied from the Exome Variant Server ABCG4_000067 1/12990 0/8590 1/4400
1 c.1167+16G>A r.(=) p.(=) g.119029058G>A Copied from the Exome Variant Server ABCG4_000068 135/12990 124/8590 11/4400
1 c.1167+24G>A r.(=) p.(=) g.119029066G>A Copied from the Exome Variant Server ABCG4_000069 5/12990 4/8590 1/4400
1 c.1168-18G>A r.(=) p.(=) g.119029249G>A Copied from the Exome Variant Server ABCG4_000070 1/12990 1/8590 0/4400
1 c.1184G>A r.(?) p.(Arg395Gln) g.119029283G>A Copied from the Exome Variant Server ABCG4_000071 2/12990 2/8590 0/4400
1 c.1210G>A r.(?) p.(Val404Met) g.119029309G>A Copied from the Exome Variant Server ABCG4_000072 1/12990 0/8590 1/4400
1 c.1218C>T r.(=) p.(=) g.119029317C>T Copied from the Exome Variant Server ABCG4_000073 2/12990 0/8590 2/4400
1 c.1230C>T r.(=) p.(=) g.119029329C>T Copied from the Exome Variant Server ABCG4_000074 1/12990 1/8590 0/4400
1 c.1239T>C r.(=) p.(=) g.119029338T>C Copied from the Exome Variant Server ABCG4_000075 1/12990 1/8590 0/4400
1 c.1243G>A r.(?) p.(Asp415Asn) g.119029342G>A Copied from the Exome Variant Server ABCG4_000076 6/12990 0/8590 6/4400
1 c.1272C>T r.(=) p.(=) g.119029371C>T Copied from the Exome Variant Server ABCG4_000077 1/12990 0/8590 1/4400
1 c.1273G>A r.(?) p.(Gly425Ser) g.119029372G>A Copied from the Exome Variant Server ABCG4_000078 1/12990 1/8590 0/4400
1 c.1308C>T r.(=) p.(=) g.119029407C>T Copied from the Exome Variant Server ABCG4_000079 1/12990 0/8590 1/4400
1 c.1337-45G>A r.(=) p.(=) g.119029494G>A Copied from the Exome Variant Server ABCG4_000080 2/12990 1/8590 1/4400
1 c.1337-34C>T r.(=) p.(=) g.119029505C>T Copied from the Exome Variant Server ABCG4_000081 1/12990 1/8590 0/4400
1 c.1337-29G>A r.(=) p.(=) g.119029510G>A Copied from the Exome Variant Server ABCG4_000082 2/12990 0/8590 2/4400
1 c.1337-16C>T r.(=) p.(=) g.119029523C>T Copied from the Exome Variant Server ABCG4_000083 1/12990 1/8590 0/4400
1 c.1337-13C>G r.(=) p.(=) g.119029526C>G Copied from the Exome Variant Server ABCG4_000084 4/12990 4/8590 0/4400
1 c.1360A>T r.(?) p.(Met454Leu) g.119029562A>T Copied from the Exome Variant Server ABCG4_000085 1/12990 1/8590 0/4400
1 c.1425C>T r.(=) p.(=) g.119029627C>T Copied from the Exome Variant Server ABCG4_000086 2/12990 0/8590 2/4400
1 c.1428G>A r.(=) p.(=) g.119029630G>A Copied from the Exome Variant Server ABCG4_000087 2/12990 2/8590 0/4400
1 c.1437+15C>T r.(=) p.(=) g.119029654C>T Copied from the Exome Variant Server ABCG4_000088 3/12990 2/8590 1/4400
1 c.1438-16C>T r.(=) p.(=) g.119030921C>T Copied from the Exome Variant Server ABCG4_000089 6/12990 6/8590 0/4400
1 c.1481C>T r.(?) p.(Thr494Met) g.119030980C>T Copied from the Exome Variant Server ABCG4_000090 1/12990 0/8590 1/4400
1 c.1482G>A r.(=) p.(=) g.119030981G>A Copied from the Exome Variant Server ABCG4_000091 1/12990 1/8590 0/4400
1 c.1505G>A r.(?) p.(Arg502His) g.119031004G>A Copied from the Exome Variant Server ABCG4_000092 1/12990 1/8590 0/4400
1 c.1515C>T r.(=) p.(=) g.119031014C>T Copied from the Exome Variant Server ABCG4_000093 1/12990 1/8590 0/4400
1 c.1596+17T>C r.(=) p.(=) g.119031112T>C Copied from the Exome Variant Server ABCG4_000094 2/12990 0/8590 2/4400
1 c.1596+33C>T r.(=) p.(=) g.119031128C>T Copied from the Exome Variant Server ABCG4_000095 1/12990 0/8590 1/4400
1 c.1596+34G>T r.(=) p.(=) g.119031129G>T Copied from the Exome Variant Server ABCG4_000096 56/12990 50/8590 6/4400
1 c.1597-45C>A r.(=) p.(=) g.119031203C>A Copied from the Exome Variant Server ABCG4_000097 1/12990 0/8590 1/4400
1 c.1597-36C>T r.(=) p.(=) g.119031212C>T Copied from the Exome Variant Server ABCG4_000098 2/12990 0/8590 2/4400
1 c.1597-32A>G r.(=) p.(=) g.119031216A>G Copied from the Exome Variant Server ABCG4_000099 1/12990 0/8590 1/4400
1 c.1635C>T r.(=) p.(=) g.119031286C>T Copied from the Exome Variant Server ABCG4_000100 1/12990 1/8590 0/4400
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