Full data view for gene ABCG1

Information The variants shown are described using the NM_207174.1 transcript reference sequence.

223 entries on 3 pages. Showing entries 1 - 100.
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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.-749_-738del r.(=) p.(=) g.43639333_43639344del Copied from the Exome Variant Server ABCG1_000001 30/5444 26/3958 4/1486 - - - - - - -
?/? c.-746_-738del r.(=) p.(=) g.43639336_43639344del Copied from the Exome Variant Server ABCG1_000002 52/5444 43/3958 9/1486 - - - - - - -
?/? c.-743_-738del r.(=) p.(=) g.43639339_43639344del Copied from the Exome Variant Server ABCG1_000003 817/5444 680/3958 137/1486 - - - - - - -
?/? c.-743_-738dup r.(=) p.(=) g.43639339_43639344dup Copied from the Exome Variant Server ABCG1_000004 72/5444 56/3958 16/1486 - - - - - - -
?/? c.-740_-738del r.(=) p.(=) g.43639342_43639344del Copied from the Exome Variant Server ABCG1_000005 410/5444 213/3958 197/1486 - - - - - - -
?/? c.-740_-738dup r.(=) p.(=) g.43639342_43639344dup Copied from the Exome Variant Server ABCG1_000006 12/5444 3/3958 9/1486 - - - - - - -
?/? c.-714G>T r.(=) p.(=) g.43639368G>T Copied from the Exome Variant Server ABCG1_000007 1/12948 1/8568 0/4380 - - - - - - -
?/? c.-701T>C r.(=) p.(=) g.43639381T>C Copied from the Exome Variant Server ABCG1_000008 68/12996 1/8594 67/4402 - - - - - - -
?/? c.-697A>T r.(=) p.(=) g.43639385A>T Copied from the Exome Variant Server ABCG1_000009 1/12998 1/8596 0/4402 - - - - - - -
?/? c.-674C>T r.(=) p.(=) g.43639408C>T Copied from the Exome Variant Server ABCG1_000010 2/13004 1/8598 1/4406 - - - - - - -
?/? c.-657G>A r.(=) p.(=) g.43639425G>A Copied from the Exome Variant Server ABCG1_000011 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-652C>T r.(=) p.(=) g.43639430C>T Copied from the Exome Variant Server ABCG1_000012 4/13004 0/8598 4/4406 - - - - - - -
?/? c.-606C>T r.(=) p.(=) g.43639476C>T Copied from the Exome Variant Server ABCG1_000013 23/4566 0/3182 23/1384 - - - - - - -
?/? c.-28_-27insGGAG r.(=) p.(=) g.43640054_43640055insGGAG Copied from the Exome Variant Server ABCG1_000014 8/11456 4/7564 4/3892 - - - - - - -
?/? c.-16C>G r.(=) p.(=) g.43640066C>G Copied from the Exome Variant Server ABCG1_000015 1197/12344 975/8158 222/4186 - - - - - - -
?/? c.71T>G r.(?) p.(Val24Gly) g.43640152T>G Copied from the Exome Variant Server ABCG1_000016 1/12642 0/8336 1/4306 - - - - - - -
?/? c.75+13T>C r.(=) p.(=) g.43640169T>C Copied from the Exome Variant Server ABCG1_000017 1208/12500 963/8242 245/4258 - - - - - - -
?/? c.75+27G>A r.(=) p.(=) g.43640183G>A Copied from the Exome Variant Server ABCG1_000018 1225/12228 976/8044 249/4184 - - - - - - -
?/? c.83G>A r.(?) p.(Ser28Asn) g.43645788G>A Copied from the Exome Variant Server ABCG1_000019 8/13006 0/8600 8/4406 - - - - - - -
?/? c.104C>T r.(?) p.(Thr35Met) g.43645809C>T Copied from the Exome Variant Server ABCG1_000020 14/13006 0/8600 14/4406 - - - - - - -
?/? c.105G>A r.(=) p.(=) g.43645810G>A Copied from the Exome Variant Server ABCG1_000021 2/13006 1/8600 1/4406 - - - - - - -
?/? c.113A>G r.(?) p.(Lys38Arg) g.43645818A>G Copied from the Exome Variant Server ABCG1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.136G>A r.(?) p.(Glu46Lys) g.43645841G>A Copied from the Exome Variant Server ABCG1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.171G>A r.(=) p.(=) g.43645876G>A Copied from the Exome Variant Server ABCG1_000024 11/13006 8/8600 3/4406 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.43645879C>T Copied from the Exome Variant Server ABCG1_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.43645993G>A Copied from the Exome Variant Server ABCG1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.289_290insT r.(?) p.(Pro98Serfs*2) g.43645994_43645995insT Copied from the Exome Variant Server ABCG1_000027 1/12518 1/8254 0/4264 - - - - - - -
?/? c.319+4G>A r.spl? p.? g.43646028G>A Copied from the Exome Variant Server ABCG1_000028 2/13004 2/8600 0/4404 - - - - - - -
?/? c.319+11C>T r.(=) p.(=) g.43646035C>T Copied from the Exome Variant Server ABCG1_000029 228/13000 217/8598 11/4402 - - - - - - -
?/? c.319+12G>A r.(=) p.(=) g.43646036G>A Copied from the Exome Variant Server ABCG1_000030 3/12998 0/8596 3/4402 - - - - - - -
?/? c.320-42G>A r.(=) p.(=) g.43691138G>A Copied from the Exome Variant Server ABCG1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.320-41A>G r.(=) p.(=) g.43691139A>G Copied from the Exome Variant Server ABCG1_000032 155/13006 1/8600 154/4406 - - - - - - -
?/? c.320-34G>C r.(=) p.(=) g.43691146G>C Copied from the Exome Variant Server ABCG1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.320-10del r.(=) p.(=) g.43691170del Copied from the Exome Variant Server ABCG1_000034 81/12518 66/8254 15/4264 - - - - - - -
?/? c.330C>T r.(=) p.(=) g.43691190C>T Copied from the Exome Variant Server ABCG1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372G>A r.(=) p.(=) g.43691232G>A Copied from the Exome Variant Server ABCG1_000036 5/13006 1/8600 4/4406 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.43691259C>T Copied from the Exome Variant Server ABCG1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411G>A r.(=) p.(=) g.43691271G>A Copied from the Exome Variant Server ABCG1_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.432A>G r.(=) p.(=) g.43691292A>G Copied from the Exome Variant Server ABCG1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.437+15C>T r.(=) p.(=) g.43691312C>T Copied from the Exome Variant Server ABCG1_000040 28/13006 25/8600 3/4406 - - - - - - -
?/? c.437+21C>T r.(=) p.(=) g.43691318C>T Copied from the Exome Variant Server ABCG1_000041 2/13006 0/8600 2/4406 - - - - - - -
?/? c.437+25A>G r.(=) p.(=) g.43691322A>G Copied from the Exome Variant Server ABCG1_000042 9/13006 0/8600 9/4406 - - - - - - -
?/? c.437+36C>G r.(=) p.(=) g.43691333C>G Copied from the Exome Variant Server ABCG1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.438-34C>T r.(=) p.(=) g.43693379C>T Copied from the Exome Variant Server ABCG1_000044 1/12920 1/8544 0/4376 - - - - - - -
?/? c.438-27C>T r.(=) p.(=) g.43693386C>T Copied from the Exome Variant Server ABCG1_000045 12/12968 0/8574 12/4394 - - - - - - -
?/? c.444G>C r.(=) p.(=) g.43693419G>C Copied from the Exome Variant Server ABCG1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.480C>G r.(=) p.(=) g.43693455C>G Copied from the Exome Variant Server ABCG1_000047 74/13006 0/8600 74/4406 - - - - - - -
?/? c.499C>T r.(?) p.(Arg167Trp) g.43693474C>T Copied from the Exome Variant Server ABCG1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.561G>A r.(=) p.(=) g.43693536G>A Copied from the Exome Variant Server ABCG1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.570+14T>C r.(=) p.(=) g.43693559T>C Copied from the Exome Variant Server ABCG1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.570+17C>G r.(=) p.(=) g.43693562C>G Copied from the Exome Variant Server ABCG1_000051 1/13002 1/8600 0/4402 - - - - - - -
?/? c.570+19C>T r.(=) p.(=) g.43693564C>T Copied from the Exome Variant Server ABCG1_000052 1/13000 1/8600 0/4400 - - - - - - -
?/? c.570+37C>A r.(=) p.(=) g.43693582C>A Copied from the Exome Variant Server ABCG1_000053 1/12914 0/8588 1/4326 - - - - - - -
?/? c.570+39G>C r.(=) p.(=) g.43693584G>C Copied from the Exome Variant Server ABCG1_000054 2334/12878 807/8576 1527/4302 - - - - - - -
?/? c.570+51C>T r.(=) p.(=) g.43693596C>T Copied from the Exome Variant Server ABCG1_000055 7/12692 0/8536 7/4156 - - - - - - -
?/? c.571-69C>T r.(=) p.(=) g.43696936C>T Copied from the Exome Variant Server ABCG1_000056 1/4566 1/3182 0/1384 - - - - - - -
?/? c.571-40G>A r.(=) p.(=) g.43696965G>A Copied from the Exome Variant Server ABCG1_000057 7/13006 6/8600 1/4406 - - - - - - -
?/? c.571-6C>T r.(=) p.(=) g.43696999C>T Copied from the Exome Variant Server ABCG1_000058 436/13006 395/8600 41/4406 - - - - - - -
?/? c.571-5T>C r.spl? p.? g.43697000T>C Copied from the Exome Variant Server ABCG1_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.575C>T r.(?) p.(Ser192Leu) g.43697009C>T Copied from the Exome Variant Server ABCG1_000060 9/13006 9/8600 0/4406 - - - - - - -
?/? c.599A>G r.(?) p.(Lys200Arg) g.43697033A>G Copied from the Exome Variant Server ABCG1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.621+39G>A r.(=) p.(=) g.43697094G>A Copied from the Exome Variant Server ABCG1_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.621+40T>C r.(=) p.(=) g.43697095T>C Copied from the Exome Variant Server ABCG1_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.621+47C>T r.(=) p.(=) g.43697102C>T Copied from the Exome Variant Server ABCG1_000064 15/13006 0/8600 15/4406 - - - - - - -
?/? c.621+55T>G r.(=) p.(=) g.43697110T>G Copied from the Exome Variant Server ABCG1_000065 28/4566 27/3182 1/1384 - - - - - - -
?/? c.621+63G>A r.(=) p.(=) g.43697118G>A Copied from the Exome Variant Server ABCG1_000066 34/4566 33/3182 1/1384 - - - - - - -
?/? c.622-22_622-21del r.(=) p.(=) g.43702362_43702363del Copied from the Exome Variant Server ABCG1_000067 26/12514 14/8252 12/4262 - - - - - - -
?/? c.622-16G>A r.(=) p.(=) g.43702368G>A Copied from the Exome Variant Server ABCG1_000068 30/13004 0/8600 30/4404 - - - - - - -
?/? c.622-8_622-7insC r.(=) p.(=) g.43702376_43702377insC Copied from the Exome Variant Server ABCG1_000069 1/12516 1/8254 0/4262 - - - - - - -
?/? c.634C>T r.(=) p.(=) g.43702396C>T Copied from the Exome Variant Server ABCG1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.642G>A r.(=) p.(=) g.43702404G>A Copied from the Exome Variant Server ABCG1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.661G>A r.(?) p.(Ala221Thr) g.43702423G>A Copied from the Exome Variant Server ABCG1_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.670C>T r.(?) p.(Arg224Trp) g.43702432C>T Copied from the Exome Variant Server ABCG1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.727G>A r.(?) p.(Val243Met) g.43702489G>A Copied from the Exome Variant Server ABCG1_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.767+11A>G r.(=) p.(=) g.43702540A>G Copied from the Exome Variant Server ABCG1_000075 9/13006 0/8600 9/4406 - - - - - - -
?/? c.767+34G>A r.(=) p.(=) g.43702563G>A Copied from the Exome Variant Server ABCG1_000076 189/13004 3/8600 186/4404 - - - - - - -
?/? c.767+35C>T r.(=) p.(=) g.43702564C>T Copied from the Exome Variant Server ABCG1_000077 1/13004 0/8600 1/4404 - - - - - - -
?/? c.767+37G>A r.(=) p.(=) g.43702566G>A Copied from the Exome Variant Server ABCG1_000078 1/13004 1/8600 0/4404 - - - - - - -
?/? c.768-40T>G r.(=) p.(=) g.43704630T>G Copied from the Exome Variant Server ABCG1_000079 31/12982 0/8586 31/4396 - - - - - - -
?/? c.768-36G>A r.(=) p.(=) g.43704634G>A Copied from the Exome Variant Server ABCG1_000080 11/13002 0/8598 11/4404 - - - - - - -
?/? c.768-32G>A r.(=) p.(=) g.43704638G>A Copied from the Exome Variant Server ABCG1_000081 3/13006 1/8600 2/4406 - - - - - - -
?/? c.768-27C>T r.(=) p.(=) g.43704643C>T Copied from the Exome Variant Server ABCG1_000082 15/13006 0/8600 15/4406 - - - - - - -
?/? c.768-26G>A r.(=) p.(=) g.43704644G>A Copied from the Exome Variant Server ABCG1_000083 37/13006 3/8600 34/4406 - - - - - - -
?/? c.768-22C>T r.(=) p.(=) g.43704648C>T Copied from the Exome Variant Server ABCG1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768-20C>T r.(=) p.(=) g.43704650C>T Copied from the Exome Variant Server ABCG1_000085 3574/13006 2312/8600 1262/4406 - - - - - - -
?/? c.768-19G>A r.(=) p.(=) g.43704651G>A Copied from the Exome Variant Server ABCG1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.43704670C>T Copied from the Exome Variant Server ABCG1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.769G>A r.(?) p.(Gly257Ser) g.43704671G>A Copied from the Exome Variant Server ABCG1_000088 2/13006 2/8600 0/4406 - - - - - - -
?/? c.780C>T r.(=) p.(=) g.43704682C>T Copied from the Exome Variant Server ABCG1_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.804G>A r.(=) p.(=) g.43704706G>A Copied from the Exome Variant Server ABCG1_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.820G>A r.(?) p.(Ala274Thr) g.43704722G>A Copied from the Exome Variant Server ABCG1_000091 2/13006 2/8600 0/4406 - - - - - - -
?/? c.876C>T r.(=) p.(=) g.43704778C>T Copied from the Exome Variant Server ABCG1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.882G>C r.(=) p.(=) g.43704784G>C Copied from the Exome Variant Server ABCG1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.43704787C>T Copied from the Exome Variant Server ABCG1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891+5G>A r.spl? p.? g.43704798G>A Copied from the Exome Variant Server ABCG1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891+6C>T r.(=) p.(=) g.43704799C>T Copied from the Exome Variant Server ABCG1_000096 6/13006 6/8600 0/4406 - - - - - - -
?/? c.891+7G>A r.(=) p.(=) g.43704800G>A Copied from the Exome Variant Server ABCG1_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891+14G>A r.(=) p.(=) g.43704807G>A Copied from the Exome Variant Server ABCG1_000098 5/13006 0/8600 5/4406 - - - - - - -
?/? c.891+24C>T r.(=) p.(=) g.43704817C>T Copied from the Exome Variant Server ABCG1_000099 2/13006 2/8600 0/4406 - - - - - - -
?/? c.891+25G>A r.(=) p.(=) g.43704818G>A Copied from the Exome Variant Server ABCG1_000100 1/13006 1/8600 0/4406 - - - - - - -
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