Unique variants in gene GATAD2A

Information The variants shown are described using the NM_017660.3 transcript reference sequence.

155 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.-6-30336A>C r.(=) p.(=) g.19545813A>C Copied from the Exome Variant Server GATAD2A_000001 1/4566 0/3182 1/1384
1 c.-6-30318T>G r.(=) p.(=) g.19545831T>G Copied from the Exome Variant Server GATAD2A_000002 1/10298 0/7162 1/3136
1 c.-6-30315A>C r.(=) p.(=) g.19545834A>C Copied from the Exome Variant Server GATAD2A_000003 2/10300 0/7164 2/3136
1 c.-6-30231T>C r.(=) p.(=) g.19545918T>C Copied from the Exome Variant Server GATAD2A_000004 1/10300 0/7164 1/3136
1 c.-6-30219G>A r.(=) p.(=) g.19545930G>A Copied from the Exome Variant Server GATAD2A_000005 1/10300 0/7164 1/3136
1 c.-6-30194G>A r.(=) p.(=) g.19545955G>A Copied from the Exome Variant Server GATAD2A_000006 1/10300 1/7164 0/3136
1 c.-6-30178C>T r.(=) p.(=) g.19545971C>T Copied from the Exome Variant Server GATAD2A_000007 1/10300 1/7164 0/3136
1 c.-6-30159T>C r.(=) p.(=) g.19545990T>C Copied from the Exome Variant Server GATAD2A_000008 4554/10300 2576/7164 1978/3136
1 c.-6-29129C>T r.(=) p.(=) g.19547020C>T Copied from the Exome Variant Server GATAD2A_000009 1/5734 1/3982 0/1752
1 c.41C>T r.(?) p.(Ala14Val) g.19576195C>T Copied from the Exome Variant Server GATAD2A_000010 1/10300 0/7164 1/3136
1 c.43C>T r.(?) p.(Leu15Phe) g.19576197C>T Copied from the Exome Variant Server GATAD2A_000011 1/10300 0/7164 1/3136
1 c.50G>A r.(?) p.(Arg17Gln) g.19576204G>A Copied from the Exome Variant Server GATAD2A_000012 110/10300 0/7164 110/3136
1 c.156G>A r.(=) p.(=) g.19576310G>A Copied from the Exome Variant Server GATAD2A_000013 1/10300 0/7164 1/3136
1 c.159A>T r.(=) p.(=) g.19576313A>T Copied from the Exome Variant Server GATAD2A_000014 1/10300 1/7164 0/3136
1 c.193G>C r.(?) p.(Glu65Gln) g.19576347G>C Copied from the Exome Variant Server GATAD2A_000015 2/10300 2/7164 0/3136
1 c.195_200del r.(?) p.(Thr67_Ala68del) g.19576349_19576354del Copied from the Exome Variant Server GATAD2A_000016 86/11324 63/7472 23/3852
1 c.200C>T r.(?) p.(Thr67Met) g.19576354C>T Copied from the Exome Variant Server GATAD2A_000017 1/10300 0/7164 1/3136
1 c.237C>T r.(=) p.(=) g.19576391C>T Copied from the Exome Variant Server GATAD2A_000018 2/10298 0/7162 2/3136
1 c.238G>A r.(?) p.(Asp80Asn) g.19576392G>A Copied from the Exome Variant Server GATAD2A_000019 3/10298 3/7162 0/3136
1 c.269+30G>A r.(=) p.(=) g.19576453G>A Copied from the Exome Variant Server GATAD2A_000020 1/10242 1/7132 0/3110
1 c.270-11C>T r.(=) p.(=) g.19603104C>T Copied from the Exome Variant Server GATAD2A_000021 1/10300 0/7164 1/3136
1 c.283G>A r.(?) p.(Glu95Lys) g.19603128G>A Copied from the Exome Variant Server GATAD2A_000022 5/10300 5/7164 0/3136
1 c.326A>G r.(?) p.(Asn109Ser) g.19603171A>G Copied from the Exome Variant Server GATAD2A_000023 5/10300 5/7164 0/3136
1 c.344C>T r.(?) p.(Pro115Leu) g.19603189C>T Copied from the Exome Variant Server GATAD2A_000024 1/10300 0/7164 1/3136
1 c.392A>C r.(?) p.(Glu131Ala) g.19603237A>C Copied from the Exome Variant Server GATAD2A_000025 1/10300 0/7164 1/3136
1 c.402+10G>A r.(=) p.(=) g.19603257G>A Copied from the Exome Variant Server GATAD2A_000026 1/10300 1/7164 0/3136
1 c.402+14_402+15insG r.(=) p.(=) g.19603261_19603262insG Copied from the Exome Variant Server GATAD2A_000027 1/12446 0/8210 1/4236
1 c.402+17C>T r.(=) p.(=) g.19603264C>T Copied from the Exome Variant Server GATAD2A_000028 1/10300 1/7164 0/3136
1 c.402+18G>A r.(=) p.(=) g.19603265G>A Copied from the Exome Variant Server GATAD2A_000029 1/10300 0/7164 1/3136
1 c.402+23C>T r.(=) p.(=) g.19603270C>T Copied from the Exome Variant Server GATAD2A_000030 1/10300 1/7164 0/3136
1 c.402+27G>A r.(=) p.(=) g.19603274G>A Copied from the Exome Variant Server GATAD2A_000031 6/10300 0/7164 6/3136
1 c.405A>G r.(=) p.(=) g.19603392A>G Copied from the Exome Variant Server GATAD2A_000032 1/13006 1/8600 0/4406
1 c.426A>G r.(=) p.(=) g.19603413A>G Copied from the Exome Variant Server GATAD2A_000033 3/13006 0/8600 3/4406
1 c.437A>G r.(?) p.(Lys146Arg) g.19603424A>G Copied from the Exome Variant Server GATAD2A_000034 1/13006 1/8600 0/4406
1 c.450A>G r.(=) p.(=) g.19603437A>G Copied from the Exome Variant Server GATAD2A_000035 1/13006 1/8600 0/4406
1 c.524C>T r.(?) p.(Thr175Ile) g.19603511C>T Copied from the Exome Variant Server GATAD2A_000036 1/13006 0/8600 1/4406
1 c.525C>T r.(=) p.(=) g.19603512C>T Copied from the Exome Variant Server GATAD2A_000037 1/13006 1/8600 0/4406
1 c.534+4C>T r.spl? p.? g.19603525C>T Copied from the Exome Variant Server GATAD2A_000038 1/13006 1/8600 0/4406
1 c.534+5_534+6insT r.spl? p.? g.19603526_19603527insT Copied from the Exome Variant Server GATAD2A_000039 2/12518 0/8254 2/4264
1 c.534+40C>T r.(=) p.(=) g.19603561C>T Copied from the Exome Variant Server GATAD2A_000040 1/13006 1/8600 0/4406
1 c.535-44C>T r.(=) p.(=) g.19605059C>T Copied from the Exome Variant Server GATAD2A_000041 2/12998 2/8598 0/4400
1 c.535-43G>A r.(=) p.(=) g.19605060G>A Copied from the Exome Variant Server GATAD2A_000042 2/13000 1/8600 1/4400
1 c.535-39C>T r.(=) p.(=) g.19605064C>T Copied from the Exome Variant Server GATAD2A_000043 1/13000 1/8600 0/4400
1 c.535-38G>A r.(=) p.(=) g.19605065G>A Copied from the Exome Variant Server GATAD2A_000044 1/13000 1/8600 0/4400
1 c.535-22C>T r.(=) p.(=) g.19605081C>T Copied from the Exome Variant Server GATAD2A_000045 1/13004 1/8600 0/4404
1 c.535-20G>A r.(=) p.(=) g.19605083G>A Copied from the Exome Variant Server GATAD2A_000046 1/13004 1/8600 0/4404
1 c.558C>T r.(=) p.(=) g.19605126C>T Copied from the Exome Variant Server GATAD2A_000047 1/13006 0/8600 1/4406
1 c.564C>T r.(=) p.(=) g.19605132C>T Copied from the Exome Variant Server GATAD2A_000048 1/13006 1/8600 0/4406
1 c.570_571insC r.(?) p.(Leu193Alafs*66) g.19605138_19605139insC Copied from the Exome Variant Server GATAD2A_000049 24/12518 9/8254 15/4264
1 c.624+18G>C r.(=) p.(=) g.19605210G>C Copied from the Exome Variant Server GATAD2A_000050 1/13006 1/8600 0/4406
1 c.625-47_625-46insG r.(=) p.(=) g.19606516_19606517insG Copied from the Exome Variant Server GATAD2A_000051 13/12518 9/8254 4/4264
1 c.625-13G>A r.(=) p.(=) g.19606550G>A Copied from the Exome Variant Server GATAD2A_000052 17/13006 17/8600 0/4406
1 c.625-9C>T r.(=) p.(=) g.19606554C>T Copied from the Exome Variant Server GATAD2A_000053 1/13006 0/8600 1/4406
1 c.637C>A r.(=) p.(=) g.19606575C>A Copied from the Exome Variant Server GATAD2A_000054 1/13006 1/8600 0/4406
1 c.645C>T r.(=) p.(=) g.19606583C>T Copied from the Exome Variant Server GATAD2A_000055 1/13006 0/8600 1/4406
1 c.663G>A r.(=) p.(=) g.19606601G>A Copied from the Exome Variant Server GATAD2A_000056 1/13006 0/8600 1/4406
1 c.667C>G r.(?) p.(Leu223Val) g.19606605C>G Copied from the Exome Variant Server GATAD2A_000057 1/13006 1/8600 0/4406
1 c.690G>A r.(=) p.(=) g.19606628G>A Copied from the Exome Variant Server GATAD2A_000058 1/13006 1/8600 0/4406
1 c.696G>A r.(=) p.(=) g.19606634G>A Copied from the Exome Variant Server GATAD2A_000059 5764/13006 3031/8600 2733/4406
1 c.708A>T r.(=) p.(=) g.19606646A>T Copied from the Exome Variant Server GATAD2A_000060 1/13006 1/8600 0/4406
1 c.726C>G r.(=) p.(=) g.19606664C>G Copied from the Exome Variant Server GATAD2A_000061 1/13006 0/8600 1/4406
1 c.756+35A>C r.(=) p.(=) g.19606729A>C Copied from the Exome Variant Server GATAD2A_000062 5/13006 4/8600 1/4406
1 c.757-37A>G r.(=) p.(=) g.19606824A>G Copied from the Exome Variant Server GATAD2A_000063 1/13004 1/8598 0/4406
1 c.757-13C>T r.(=) p.(=) g.19606848C>T Copied from the Exome Variant Server GATAD2A_000064 187/13006 169/8600 18/4406
1 c.818G>A r.(?) p.(Arg273Gln) g.19606922G>A Copied from the Exome Variant Server GATAD2A_000065 1/13006 0/8600 1/4406
1 c.840G>A r.(=) p.(=) g.19606944G>A Copied from the Exome Variant Server GATAD2A_000066 1/13006 1/8600 0/4406
1 c.861C>T r.(=) p.(=) g.19606965C>T Copied from the Exome Variant Server GATAD2A_000067 31/13006 31/8600 0/4406
1 c.877C>T r.(?) p.(Arg293Cys) g.19606981C>T Copied from the Exome Variant Server GATAD2A_000068 1/13006 0/8600 1/4406
1 c.887A>G r.(?) p.(Asn296Ser) g.19606991A>G Copied from the Exome Variant Server GATAD2A_000069 41/13006 6/8600 35/4406
1 c.914A>G r.(?) p.(Asn305Ser) g.19607018A>G Copied from the Exome Variant Server GATAD2A_000070 2/13006 2/8600 0/4406
1 c.924+12G>A r.(=) p.(=) g.19607040G>A Copied from the Exome Variant Server GATAD2A_000071 1/13006 0/8600 1/4406
1 c.924+19_924+20del r.(=) p.(=) g.19607047_19607048del Copied from the Exome Variant Server GATAD2A_000072 2/12518 0/8254 2/4264
1 c.924+37_924+38insG r.(=) p.(=) g.19607065_19607066insG Copied from the Exome Variant Server GATAD2A_000073 1/12518 1/8254 0/4264
1 c.924+42C>T r.(=) p.(=) g.19607070C>T Copied from the Exome Variant Server GATAD2A_000074 9/13006 0/8600 9/4406
1 c.925-34C>T r.(=) p.(=) g.19609218C>T Copied from the Exome Variant Server GATAD2A_000075 2/13006 2/8600 0/4406
1 c.925-33G>A r.(=) p.(=) g.19609219G>A Copied from the Exome Variant Server GATAD2A_000076 1/13006 1/8600 0/4406
1 c.925-29C>T r.(=) p.(=) g.19609223C>T Copied from the Exome Variant Server GATAD2A_000077 1/13006 1/8600 0/4406
1 c.925-28G>A r.(=) p.(=) g.19609224G>A Copied from the Exome Variant Server GATAD2A_000078 6/13006 4/8600 2/4406
1 c.925-21_925-20insT r.(=) p.(=) g.19609231_19609232insT Copied from the Exome Variant Server GATAD2A_000079 4/12518 4/8254 0/4264
1 c.961T>A r.(?) p.(Ser321Thr) g.19609288T>A Copied from the Exome Variant Server GATAD2A_000080 1/13006 0/8600 1/4406
1 c.962C>T r.(?) p.(Ser321Phe) g.19609289C>T Copied from the Exome Variant Server GATAD2A_000081 1/13006 1/8600 0/4406
1 c.963C>G r.(=) p.(=) g.19609290C>G Copied from the Exome Variant Server GATAD2A_000082 1/13006 1/8600 0/4406
1 c.974A>G r.(?) p.(Asn325Ser) g.19609301A>G Copied from the Exome Variant Server GATAD2A_000083 1/13006 1/8600 0/4406
1 c.986C>T r.(?) p.(Thr329Ile) g.19609313C>T Copied from the Exome Variant Server GATAD2A_000084 1/13006 1/8600 0/4406
1 c.1014C>T r.(=) p.(=) g.19609341C>T Copied from the Exome Variant Server GATAD2A_000085 1/13006 1/8600 0/4406
1 c.1033C>A r.(?) p.(Gln345Lys) g.19609360C>A Copied from the Exome Variant Server GATAD2A_000086 1/13006 1/8600 0/4406
1 c.1057C>T r.(?) p.(Arg353Cys) g.19609384C>T Copied from the Exome Variant Server GATAD2A_000087 1/13004 0/8600 1/4404
1 c.1077G>A r.(=) p.(=) g.19609404G>A Copied from the Exome Variant Server GATAD2A_000088 2/13006 0/8600 2/4406
1 c.1089del r.(?) p.(Pro365Hisfs*9) g.19609416del Copied from the Exome Variant Server GATAD2A_000089 146/12516 99/8254 47/4262
1 c.1109C>T r.(?) p.(Ala370Val) g.19609436C>T Copied from the Exome Variant Server GATAD2A_000090 1/13006 1/8600 0/4406
1 c.1128G>C r.(=) p.(=) g.19609455G>C Copied from the Exome Variant Server GATAD2A_000091 1/13006 1/8600 0/4406
1 c.1155C>A r.(=) p.(=) g.19609482C>A Copied from the Exome Variant Server GATAD2A_000092 1/13006 0/8600 1/4406
1 c.1158C>T r.(=) p.(=) g.19609485C>T Copied from the Exome Variant Server GATAD2A_000093 1/13006 1/8600 0/4406
1 c.1164C>T r.(=) p.(=) g.19609491C>T Copied from the Exome Variant Server GATAD2A_000094 1/13006 0/8600 1/4406
1 c.1200A>G r.(=) p.(=) g.19609527A>G Copied from the Exome Variant Server GATAD2A_000095 3/13006 3/8600 0/4406
1 c.1202A>C r.(?) p.(Gln401Pro) g.19609529A>C Copied from the Exome Variant Server GATAD2A_000096 1/13006 1/8600 0/4406
1 c.1204+22del r.(=) p.(=) g.19609553del Copied from the Exome Variant Server GATAD2A_000097 1/12486 0/8230 1/4256
1 c.1204+24G>A r.(=) p.(=) g.19609555G>A Copied from the Exome Variant Server GATAD2A_000098 1/12984 1/8584 0/4400
1 c.1205-45G>A r.(=) p.(=) g.19611885G>A Copied from the Exome Variant Server GATAD2A_000099 1/12986 0/8588 1/4398
1 c.1205-36C>G r.(=) p.(=) g.19611894C>G Copied from the Exome Variant Server GATAD2A_000100 1/12990 1/8588 0/4402
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