Unique variants in gene GAN

Information The variants shown are described using the NM_022041.3 transcript reference sequence.

125 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.46C>T r.(=) p.(=) g.81348764C>T Copied from the Exome Variant Server GAN_000001 126/12898 119/8554 7/4344
1 c.72C>G r.(=) p.(=) g.81348790C>G Copied from the Exome Variant Server GAN_000002 1/12946 1/8576 0/4370
1 c.141C>A r.(=) p.(=) g.81348859C>A Copied from the Exome Variant Server GAN_000003 1/12958 0/8582 1/4376
1 c.156C>T r.(=) p.(=) g.81348874C>T Copied from the Exome Variant Server GAN_000004 2/12896 0/8558 2/4338
1 c.168-48C>G r.(=) p.(=) g.81385140C>G Copied from the Exome Variant Server GAN_000005 10/12970 6/8584 4/4386
1 c.168-32A>G r.(=) p.(=) g.81385156A>G Copied from the Exome Variant Server GAN_000006 1/12990 0/8596 1/4394
1 c.168-24T>G r.(=) p.(=) g.81385164T>G Copied from the Exome Variant Server GAN_000007 1/12994 1/8596 0/4398
1 c.218T>C r.(?) p.(Ile73Thr) g.81385238T>C Copied from the Exome Variant Server GAN_000008 2/13004 2/8600 0/4404
1 c.237G>A r.(=) p.(=) g.81385257G>A Copied from the Exome Variant Server GAN_000009 2/13004 0/8600 2/4404
1 c.238G>C r.(?) p.(Val80Leu) g.81385258G>C Copied from the Exome Variant Server GAN_000010 1/13004 0/8600 1/4404
1 c.244G>C r.(?) p.(Val82Leu) g.81385264G>C Copied from the Exome Variant Server GAN_000011 1/13004 1/8600 0/4404
1 c.282+30T>G r.(=) p.(=) g.81385332T>G Copied from the Exome Variant Server GAN_000012 1/13004 1/8600 0/4404
1 c.283-40G>T r.(=) p.(=) g.81387970G>T Copied from the Exome Variant Server GAN_000013 140/12990 126/8596 14/4394
1 c.283-23A>G r.(=) p.(=) g.81387987A>G Copied from the Exome Variant Server GAN_000014 1/13000 1/8600 0/4400
1 c.283-20T>C r.(=) p.(=) g.81387990T>C Copied from the Exome Variant Server GAN_000015 9/13000 9/8600 0/4400
1 c.283-14T>C r.(=) p.(=) g.81387996T>C Copied from the Exome Variant Server GAN_000016 7/13004 6/8600 1/4404
1 c.348C>T r.(=) p.(=) g.81388075C>T Copied from the Exome Variant Server GAN_000017 1/13004 1/8600 0/4404
1 c.355A>T r.(?) p.(Thr119Ser) g.81388082A>T Copied from the Exome Variant Server GAN_000018 16/13004 0/8600 16/4404
1 c.358C>T r.(=) p.(=) g.81388085C>T Copied from the Exome Variant Server GAN_000019 7/13004 0/8600 7/4404
1 c.399C>T r.(=) p.(=) g.81388126C>T Copied from the Exome Variant Server GAN_000020 1/13004 1/8600 0/4404
1 c.413G>A r.(?) p.(Arg138His) g.81388140G>A Copied from the Exome Variant Server GAN_000021 1/13004 1/8600 0/4404
1 c.445G>A r.(?) p.(Val149Ile) g.81388172G>A Copied from the Exome Variant Server GAN_000022 2/13004 1/8600 1/4404
1 c.471G>A r.(=) p.(=) g.81388198G>A Copied from the Exome Variant Server GAN_000023 1/13004 1/8600 0/4404
1 c.479A>G r.(?) p.(His160Arg) g.81388206A>G Copied from the Exome Variant Server GAN_000024 1/13004 1/8600 0/4404
1 c.553G>C r.(?) p.(Glu185Gln) g.81388280G>C Copied from the Exome Variant Server GAN_000025 1/13004 1/8600 0/4404
1 c.564C>T r.(=) p.(=) g.81388291C>T Copied from the Exome Variant Server GAN_000026 2/13004 2/8600 0/4404
1 c.572A>G r.(?) p.(Asn191Ser) g.81388299A>G Copied from the Exome Variant Server GAN_000027 1/13004 0/8600 1/4404
1 c.582T>C r.(=) p.(=) g.81388309T>C Copied from the Exome Variant Server GAN_000028 1/13004 0/8600 1/4404
1 c.614A>G r.(?) p.(His205Arg) g.81388341A>G Copied from the Exome Variant Server GAN_000029 1/13002 1/8598 0/4404
1 c.625A>G r.(?) p.(Ile209Val) g.81388352A>G Copied from the Exome Variant Server GAN_000030 1/13002 0/8598 1/4404
1 c.633+19A>G r.(=) p.(=) g.81388379A>G Copied from the Exome Variant Server GAN_000031 25/12988 1/8588 24/4400
1 c.633+28T>C r.(=) p.(=) g.81388388T>C Copied from the Exome Variant Server GAN_000032 5/12958 4/8570 1/4388
1 c.633+43C>A r.(=) p.(=) g.81388403C>A Copied from the Exome Variant Server GAN_000033 1/12816 1/8498 0/4318
1 c.634-51T>C r.(=) p.(=) g.81390339T>C Copied from the Exome Variant Server GAN_000034 189/13004 67/8600 122/4404
1 c.634-49T>C r.(=) p.(=) g.81390341T>C Copied from the Exome Variant Server GAN_000035 7/13004 1/8600 6/4404
1 c.634-38C>G r.(=) p.(=) g.81390352C>G Copied from the Exome Variant Server GAN_000036 2/13004 2/8600 0/4404
1 c.634-30T>G r.(=) p.(=) g.81390360T>G Copied from the Exome Variant Server GAN_000037 1/13004 0/8600 1/4404
1 c.634-28C>T r.(=) p.(=) g.81390362C>T Copied from the Exome Variant Server GAN_000038 6/13004 0/8600 6/4404
1 c.634-24C>T r.(=) p.(=) g.81390366C>T Copied from the Exome Variant Server GAN_000039 1/13004 1/8600 0/4404
1 c.634-15T>C r.(=) p.(=) g.81390375T>C Copied from the Exome Variant Server GAN_000040 2/13004 1/8600 1/4404
1 c.634-6C>T r.(=) p.(=) g.81390384C>T Copied from the Exome Variant Server GAN_000041 1/13004 1/8600 0/4404
1 c.634-3C>G r.spl? p.? g.81390387C>G Copied from the Exome Variant Server GAN_000042 1/13004 0/8600 1/4404
1 c.642G>A r.(?) p.(Met214Ile) g.81390398G>A Copied from the Exome Variant Server GAN_000043 1/13004 1/8600 0/4404
1 c.670T>G r.(?) p.(Ser224Ala) g.81390426T>G Copied from the Exome Variant Server GAN_000044 1/13004 0/8600 1/4404
1 c.672A>G r.(=) p.(=) g.81390428A>G Copied from the Exome Variant Server GAN_000045 2/13004 0/8600 2/4404
1 c.682T>C r.(?) p.(Ser228Pro) g.81390438T>C Copied from the Exome Variant Server GAN_000046 1/13004 0/8600 1/4404
1 c.725G>A r.(?) p.(Arg242Gln) g.81390481G>A Copied from the Exome Variant Server GAN_000047 1/13004 1/8600 0/4404
1 c.730A>G r.(?) p.(Ile244Val) g.81390486A>G Copied from the Exome Variant Server GAN_000048 5/13004 4/8600 1/4404
1 c.743G>A r.(?) p.(Cys248Tyr) g.81390499G>A Copied from the Exome Variant Server GAN_000049 1/13004 1/8600 0/4404
1 c.756G>A r.(=) p.(=) g.81390512G>A Copied from the Exome Variant Server GAN_000050 1/13004 1/8600 0/4404
1 c.781G>A r.(?) p.(Ala261Thr) g.81390537G>A Copied from the Exome Variant Server GAN_000051 1/13004 0/8600 1/4404
1 c.795C>G r.(?) p.(Asn265Lys) g.81390551C>G Copied from the Exome Variant Server GAN_000052 2/13004 0/8600 2/4404
1 c.851+32G>C r.(=) p.(=) g.81390639G>C Copied from the Exome Variant Server GAN_000053 1/13004 1/8600 0/4404
1 c.852-25A>G r.(=) p.(=) g.81391390A>G Copied from the Exome Variant Server GAN_000054 89/13004 0/8600 89/4404
1 c.877C>T r.(?) p.(Arg293*) g.81391440C>T Copied from the Exome Variant Server GAN_000055 1/13004 1/8600 0/4404
1 c.904A>G r.(?) p.(Asn302Asp) g.81391467A>G Copied from the Exome Variant Server GAN_000056 1/13004 1/8600 0/4404
1 c.921C>G r.(?) p.(Ile307Met) g.81391484C>G Copied from the Exome Variant Server GAN_000057 1/13004 1/8600 0/4404
1 c.944C>T r.(?) p.(Pro315Leu) g.81391507C>T Copied from the Exome Variant Server GAN_000058 3/13004 3/8600 0/4404
1 c.945G>A r.(=) p.(=) g.81391508G>A Copied from the Exome Variant Server GAN_000059 1/13004 1/8600 0/4404
1 c.973+6G>A r.(=) p.(=) g.81391542G>A Copied from the Exome Variant Server GAN_000060 8/13004 2/8600 6/4404
1 c.973+30C>A r.(=) p.(=) g.81391566C>A Copied from the Exome Variant Server GAN_000061 5/13004 0/8600 5/4404
1 c.973+38C>G r.(=) p.(=) g.81391574C>G Copied from the Exome Variant Server GAN_000062 26/13004 24/8600 2/4404
1 c.974-29C>T r.(=) p.(=) g.81396075C>T Copied from the Exome Variant Server GAN_000063 1/13004 1/8600 0/4404
1 c.1045C>T r.(?) p.(Pro349Ser) g.81396175C>T Copied from the Exome Variant Server GAN_000064 2/13004 2/8600 0/4404
1 c.1048G>A r.(?) p.(Asp350Asn) g.81396178G>A Copied from the Exome Variant Server GAN_000065 2/13004 0/8600 2/4404
1 c.1064C>G r.(?) p.(Thr355Arg) g.81396194C>G Copied from the Exome Variant Server GAN_000066 1/13004 0/8600 1/4404
1 c.1065A>C r.(=) p.(=) g.81396195A>C Copied from the Exome Variant Server GAN_000068 1/13004 1/8600 0/4404
1 c.1086+20_1086+23del r.(=) p.(=) g.81396236_81396239del Copied from the Exome Variant Server GAN_000070 13/12518 0/8254 13/4264
1 c.1086+23T>G r.(=) p.(=) g.81396239T>G Copied from the Exome Variant Server GAN_000072 1/13004 1/8600 0/4404
1 c.1086+51C>T r.(=) p.(=) g.81396267C>T Copied from the Exome Variant Server GAN_000074 154/13004 68/8600 86/4404
1 c.1087-50C>G r.(=) p.(=) g.81397349C>G Copied from the Exome Variant Server GAN_000075 1/13004 0/8600 1/4404
1 c.1087-35C>G r.(=) p.(=) g.81397364C>G Copied from the Exome Variant Server GAN_000077 2/13004 2/8600 0/4404
1 c.1101C>T r.(=) p.(=) g.81397413C>T Copied from the Exome Variant Server GAN_000080 1/13004 0/8600 1/4404
1 c.1162C>T r.(=) p.(=) g.81397474C>T Copied from the Exome Variant Server GAN_000082 18/13004 0/8600 18/4404
1 c.1171A>G r.(?) p.(Met391Val) g.81397483A>G Copied from the Exome Variant Server GAN_000083 1/13004 1/8600 0/4404
1 c.1182C>T r.(=) p.(=) g.81397494C>T Copied from the Exome Variant Server GAN_000085 53/13004 0/8600 53/4404
1 c.1183G>A r.(?) p.(Asp395Asn) g.81397495G>A Copied from the Exome Variant Server GAN_000088 1/13004 0/8600 1/4404
1 c.1195A>G r.(?) p.(Lys399Glu) g.81397507A>G Copied from the Exome Variant Server GAN_000067 1/13004 1/8600 0/4404
1 c.1199C>G r.(?) p.(Thr400Ser) g.81397511C>G Copied from the Exome Variant Server GAN_000069 1/13004 1/8600 0/4404
1 c.1207A>G r.(?) p.(Lys403Glu) g.81397519A>G Copied from the Exome Variant Server GAN_000071 1/13004 0/8600 1/4404
1 c.1237-43T>A r.(=) p.(=) g.81398536T>A Copied from the Exome Variant Server GAN_000073 1/13004 1/8600 0/4404
1 c.1237-27_1237-26insC r.(=) p.(=) g.81398552_81398553insC Copied from the Exome Variant Server GAN_000076 1/12518 1/8254 0/4264
1 c.1237-26C>T r.(=) p.(=) g.81398553C>T Copied from the Exome Variant Server GAN_000078 1/13004 0/8600 1/4404
1 c.1239C>T r.(=) p.(=) g.81398581C>T Copied from the Exome Variant Server GAN_000079 92/13004 0/8600 92/4404
1 c.1293C>T r.(=) p.(=) g.81398635C>T Copied from the Exome Variant Server GAN_000081 2988/13004 2144/8600 844/4404
1 c.1323T>C r.(=) p.(=) g.81398665T>C Copied from the Exome Variant Server GAN_000084 1/13004 1/8600 0/4404
1 c.1327C>A r.(?) p.(Pro443Thr) g.81398669C>A Copied from the Exome Variant Server GAN_000086 2/13004 2/8600 0/4404
1 c.1373+4C>T r.spl? p.? g.81398719C>T Copied from the Exome Variant Server GAN_000087 1/13004 1/8600 0/4404
1 c.1373+5G>A r.spl? p.? g.81398720G>A Copied from the Exome Variant Server GAN_000089 1/13004 1/8600 0/4404
1 c.1373+18G>A r.(=) p.(=) g.81398733G>A Copied from the Exome Variant Server GAN_000090 1/13004 1/8600 0/4404
1 c.1374-48C>G r.(=) p.(=) g.81398907C>G Copied from the Exome Variant Server GAN_000091 1/13004 1/8600 0/4404
1 c.1374-45G>T r.(=) p.(=) g.81398910G>T Copied from the Exome Variant Server GAN_000092 1/13004 0/8600 1/4404
1 c.1374-35G>C r.(=) p.(=) g.81398920G>C Copied from the Exome Variant Server GAN_000093 3/13002 0/8600 3/4402
1 c.1374-28C>T r.(=) p.(=) g.81398927C>T Copied from the Exome Variant Server GAN_000094 1/13002 0/8600 1/4402
1 c.1374-20C>T r.(=) p.(=) g.81398935C>T Copied from the Exome Variant Server GAN_000095 1/13002 1/8600 0/4402
1 c.1374-16G>T r.(=) p.(=) g.81398939G>T Copied from the Exome Variant Server GAN_000096 1/13002 0/8600 1/4402
1 c.1374-10G>A r.(=) p.(=) g.81398945G>A Copied from the Exome Variant Server GAN_000097 1/13002 1/8600 0/4402
1 c.1383G>A r.(=) p.(=) g.81398964G>A Copied from the Exome Variant Server GAN_000098 1/13002 1/8600 0/4402
1 c.1402A>G r.(?) p.(Met468Val) g.81398983A>G Copied from the Exome Variant Server GAN_000099 1/13002 1/8600 0/4402
1 c.1444G>A r.(?) p.(Ala482Thr) g.81399025G>A Copied from the Exome Variant Server GAN_000100 1/13002 1/8600 0/4402
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