All transcript variants in gene G6PD

Information The variants shown are described using the NM_000402.3 transcript reference sequence.

100 entries on 1 page. 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     
?/? c.83-51C>T r.(=) p.(=) g.153774429G>A Copied from the Exome Variant Server G6PD_000006 1/10563 1/6728 0/3835
?/? c.83-32_83-30del r.(=) p.(=) g.153774408_153774410del Copied from the Exome Variant Server G6PD_000005 8/10205 0/6484 8/3721
?/? c.88G>A r.(?) p.(Val30Ile) g.153774373C>T Copied from the Exome Variant Server G6PD_000004 1/10563 1/6728 0/3835
?/? c.210+7A>C r.(=) p.(=) g.153774244T>G Copied from the Exome Variant Server G6PD_000003 3/10563 0/6728 3/3835
?/? c.210+41G>A r.(=) p.(=) g.153774210C>T Copied from the Exome Variant Server G6PD_000002 1/10563 1/6728 0/3835
?/? c.210+3559C>T r.(=) p.(=) g.153770692G>A Copied from the Exome Variant Server G6PD_000001 2/8124 1/5497 1/2627
?/? c.210+3617T>C r.(=) p.(=) g.153770634A>G Copied from the Exome Variant Server G6PD_000100 4/8125 0/5498 4/2627
?/? c.210+3625G>A r.(=) p.(=) g.153770626C>T Copied from the Exome Variant Server G6PD_000099 4/8125 4/5498 0/2627
?/? c.210+3669C>G r.(=) p.(=) g.153770582G>C Copied from the Exome Variant Server G6PD_000098 1/8125 1/5498 0/2627
?/? c.210+3719C>T r.(=) p.(=) g.153770532G>A Copied from the Exome Variant Server G6PD_000097 1/8112 1/5487 0/2625
?/? c.210+3754C>T r.(=) p.(=) g.153770497G>A Copied from the Exome Variant Server G6PD_000096 2/7978 1/5402 1/2576
?/? c.249-42C>T r.(=) p.(=) g.153764302G>A Copied from the Exome Variant Server G6PD_000095 1/10563 1/6728 0/3835
?/? c.292G>A r.(?) p.(Val98Met) g.153764217C>T Copied from the Exome Variant Server G6PD_000056 449/10563 0/6728 449/3835
?/? c.331C>T r.(?) p.(Arg111Cys) g.153764178G>A Copied from the Exome Variant Server G6PD_000055 1/10563 0/6728 1/3835
?/? c.341G>A r.(?) p.(Ser114Asn) g.153764168C>T Copied from the Exome Variant Server G6PD_000054 1/10562 1/6727 0/3835
?/? c.357+34C>T r.(=) p.(=) g.153764118G>A Copied from the Exome Variant Server G6PD_000053 1/10551 1/6719 0/3832
?/? c.358-29C>G r.(=) p.(=) g.153763629G>C Copied from the Exome Variant Server G6PD_000052 2/10557 0/6725 2/3832
?/? c.358-25G>C r.(=) p.(=) g.153763625C>G Copied from the Exome Variant Server G6PD_000051 1/10559 0/6725 1/3834
?/? c.358-4C>T r.spl? p.? g.153763604G>A Copied from the Exome Variant Server G6PD_000050 1/10563 0/6728 1/3835
?/? c.401G>A r.(?) p.(Arg134His) g.153763557C>T Copied from the Exome Variant Server G6PD_000049 3/10563 3/6728 0/3835
?/? c.428A>G r.(?) p.(Asp143Gly) g.153763530T>C Copied from the Exome Variant Server G6PD_000048 1/10563 1/6728 0/3835
?/? c.431A>G r.(?) p.(Asp144Gly) g.153763527T>C Copied from the Exome Variant Server G6PD_000047 1/10563 1/6728 0/3835
?/? c.466A>G r.(?) p.(Asn156Asp) g.153763492T>C Copied from the Exome Variant Server G6PD_000046 1199/10563 4/6728 1195/3835
?/? c.556G>A r.(?) p.(Glu186Lys) g.153763402C>T Copied from the Exome Variant Server G6PD_000045 2/10563 0/6728 2/3835
?/? c.575+37G>T r.(=) p.(=) g.153763346C>A Copied from the Exome Variant Server G6PD_000044 1/10563 0/6728 1/3835
?/? c.576-46C>T r.(=) p.(=) g.153762757G>A Copied from the Exome Variant Server G6PD_000043 1/10560 0/6726 1/3834
?/? c.576-34del r.(=) p.(=) g.153762745del Copied from the Exome Variant Server G6PD_000042 1/10205 0/6484 1/3721
?/? c.576-29G>T r.(=) p.(=) g.153762740C>A Copied from the Exome Variant Server G6PD_000041 1/10563 1/6728 0/3835
?/? c.576-26G>A r.(=) p.(=) g.153762737C>T Copied from the Exome Variant Server G6PD_000040 1/10563 0/6728 1/3835
?/? c.576-24A>G r.(=) p.(=) g.153762735T>C Copied from the Exome Variant Server G6PD_000039 2/10563 2/6728 0/3835
?/? c.576-14C>T r.(=) p.(=) g.153762725G>A Copied from the Exome Variant Server G6PD_000038 1/10563 1/6728 0/3835
?/? c.632A>T r.(?) p.(Asp211Val) g.153762655T>A Copied from the Exome Variant Server G6PD_000037 5/10563 0/6728 5/3835
?/? c.644A>G r.(?) p.(Asn215Ser) g.153762643T>C Copied from the Exome Variant Server G6PD_000036 1/10563 0/6728 1/3835
?/? c.648C>T r.(=) p.(=) g.153762639G>A Copied from the Exome Variant Server G6PD_000031 1/10563 1/6728 0/3835
?/? c.653C>T r.(?) p.(Ser218Phe) g.153762634G>A Copied from the Exome Variant Server G6PD_000030 7/10563 5/6728 2/3835
?/? c.672C>G r.(?) p.(Asp224Glu) g.153762615G>C Copied from the Exome Variant Server G6PD_000029 6/10563 6/6728 0/3835
?/? c.687C>T r.(=) p.(=) g.153762600G>A Copied from the Exome Variant Server G6PD_000028 1/10563 1/6728 0/3835
?/? c.727G>T r.(?) p.(Val243Leu) g.153762560C>A Copied from the Exome Variant Server G6PD_000027 1/10563 1/6728 0/3835
?/? c.734+31_734+32insG r.(=) p.(=) g.153762521_153762522insC Copied from the Exome Variant Server G6PD_000026 18/10205 12/6484 6/3721
?/? c.735-33A>G r.(=) p.(=) g.153762408T>C Copied from the Exome Variant Server G6PD_000025 1/10562 0/6727 1/3835
?/? c.735-24C>A r.(=) p.(=) g.153762399G>T Copied from the Exome Variant Server G6PD_000024 1/10563 1/6728 0/3835
?/? c.735-17C>T r.(=) p.(=) g.153762392G>A Copied from the Exome Variant Server G6PD_000023 95/10563 0/6728 95/3835
?/? c.770G>A r.(?) p.(Arg257Gln) g.153762340C>T Copied from the Exome Variant Server G6PD_000022 1/10563 1/6728 0/3835
?/? c.828C>T r.(=) p.(=) g.153762282G>A Copied from the Exome Variant Server G6PD_000021 1/10563 0/6728 1/3835
?/? c.840C>T r.(=) p.(=) g.153762270G>A Copied from the Exome Variant Server G6PD_000020 2/10563 2/6728 0/3835
?/? c.860+6A>G r.(=) p.(=) g.153762244T>C Copied from the Exome Variant Server G6PD_000019 1/10562 1/6727 0/3835
?/? c.861-38G>A r.(=) p.(=) g.153761922C>T Copied from the Exome Variant Server G6PD_000018 1/10562 0/6727 1/3835
?/? c.861-25G>A r.(=) p.(=) g.153761909C>T Copied from the Exome Variant Server G6PD_000017 1/10562 0/6727 1/3835
?/? c.861-8G>A r.(=) p.(=) g.153761892C>T Copied from the Exome Variant Server G6PD_000016 1/10563 1/6728 0/3835
?/? c.885G>A r.(=) p.(=) g.153761860C>T Copied from the Exome Variant Server G6PD_000015 1/10563 0/6728 1/3835
?/? c.934G>C r.(?) p.(Asp312His) g.153761811C>G Copied from the Exome Variant Server G6PD_000014 9/10563 9/6728 0/3835
?/? c.944G>A r.(?) p.(Arg315His) g.153761801C>T Copied from the Exome Variant Server G6PD_000013 1/10563 0/6728 1/3835
?/? c.948T>C r.(=) p.(=) g.153761797A>G Copied from the Exome Variant Server G6PD_000012 1/10563 0/6728 1/3835
?/? c.951G>A r.(=) p.(=) g.153761794C>T Copied from the Exome Variant Server G6PD_000011 1/10563 1/6728 0/3835
?/? c.954+5G>A r.spl? p.? g.153761786C>T Copied from the Exome Variant Server G6PD_000010 1/10563 1/6728 0/3835
?/? c.954+8_954+9insG r.(=) p.(=) g.153761782_153761783insC Copied from the Exome Variant Server G6PD_000009 1/10205 1/6484 0/3721
?/? c.954+16C>G r.(=) p.(=) g.153761775G>C Copied from the Exome Variant Server G6PD_000008 4/10563 0/6728 4/3835
?/? c.954+17A>T r.(=) p.(=) g.153761774T>A Copied from the Exome Variant Server G6PD_000007 1/10563 1/6728 0/3835
?/? c.955-42C>T r.(=) p.(=) g.153761385G>A Copied from the Exome Variant Server G6PD_000035 1/10552 1/6717 0/3835
?/? c.1027G>A r.(?) p.(Asp343Asn) g.153761271C>T Copied from the Exome Variant Server G6PD_000034 1/10563 1/6728 0/3835
?/? c.1037G>A r.(?) p.(Gly346Asp) g.153761261C>T Copied from the Exome Variant Server G6PD_000033 1/10563 1/6728 0/3835
?/? c.1047C>T r.(=) p.(=) g.153761251G>A Copied from the Exome Variant Server G6PD_000032 1/10563 1/6728 0/3835
?/? c.1058T>C r.(?) p.(Leu353Pro) g.153761240A>G Copied from the Exome Variant Server G6PD_000094 21/10563 0/6728 21/3835
?/? c.1093G>A r.(?) p.(Ala365Thr) g.153761205C>T Copied from the Exome Variant Server G6PD_000093 1/10563 1/6728 0/3835
?/? c.1108G>A r.(?) p.(Val370Ile) g.153761190C>T Copied from the Exome Variant Server G6PD_000092 1/10563 1/6728 0/3835
?/? c.1114C>T r.(?) p.(Leu372Phe) g.153761184G>A Copied from the Exome Variant Server G6PD_000091 1/10563 0/6728 1/3835
?/? c.1138G>C r.(?) p.(Asp380His) g.153761160C>G Copied from the Exome Variant Server G6PD_000090 9/10563 0/6728 9/3835
?/? c.1142-16C>A r.(=) p.(=) g.153761033G>T Copied from the Exome Variant Server G6PD_000089 1/10562 1/6727 0/3835
?/? c.1142-4G>A r.spl? p.? g.153761021C>T Copied from the Exome Variant Server G6PD_000088 3/10561 0/6727 3/3834
?/? c.1158G>A r.(=) p.(=) g.153761001C>T Copied from the Exome Variant Server G6PD_000087 1/10560 1/6726 0/3834
?/? c.1174C>T r.(=) p.(=) g.153760985G>A Copied from the Exome Variant Server G6PD_000086 1/10560 1/6727 0/3833
?/? c.1206G>A r.(=) p.(=) g.153760953C>T Copied from the Exome Variant Server G6PD_000085 421/10563 3/6728 418/3835
?/? c.1222G>A r.(?) p.(Gly408Ser) g.153760937C>T Copied from the Exome Variant Server G6PD_000084 1/10563 1/6728 0/3835
?/? c.1236C>G r.(?) p.(His412Gln) g.153760923G>C Copied from the Exome Variant Server G6PD_000083 1/10563 1/6728 0/3835
?/? c.1242G>C r.(?) p.(Gln414His) g.153760917C>G Copied from the Exome Variant Server G6PD_000082 1/10563 0/6728 1/3835
?/? c.1330A>C r.(?) p.(Asn444His) g.153760829T>G Copied from the Exome Variant Server G6PD_000081 1/10563 1/6728 0/3835
?/? c.1335C>T r.(=) p.(=) g.153760824G>A Copied from the Exome Variant Server G6PD_000080 7/10563 1/6728 6/3835
?/? c.1344G>A r.(=) p.(=) g.153760815C>T Copied from the Exome Variant Server G6PD_000079 1/10563 1/6728 0/3835
?/? c.1378-45A>T r.(=) p.(=) g.153760722T>A Copied from the Exome Variant Server G6PD_000078 5/10563 3/6728 2/3835
?/? c.1378-23G>C r.(=) p.(=) g.153760700C>G Copied from the Exome Variant Server G6PD_000077 2/10563 2/6728 0/3835
?/? c.1378-10_1378-9del r.(=) p.(=) g.153760686_153760687del Copied from the Exome Variant Server G6PD_000076 124/10205 1/6484 123/3721
?/? c.1401C>T r.(=) p.(=) g.153760654G>A Copied from the Exome Variant Server G6PD_000075 1761/10563 762/6728 999/3835
?/? c.1419C>T r.(=) p.(=) g.153760636G>A Copied from the Exome Variant Server G6PD_000074 2/10563 0/6728 2/3835
?/? c.1446C>T r.(=) p.(=) g.153760609G>A Copied from the Exome Variant Server G6PD_000073 1/10562 1/6727 0/3835
?/? c.1454+17G>A r.(=) p.(=) g.153760584C>T Copied from the Exome Variant Server G6PD_000072 1/10561 0/6727 1/3834
?/? c.1454+48C>T r.(=) p.(=) g.153760553G>A Copied from the Exome Variant Server G6PD_000071 1/10562 1/6728 0/3834
?/? c.1455-34C>T r.(=) p.(=) g.153760529G>A Copied from the Exome Variant Server G6PD_000070 1/10563 1/6728 0/3835
?/? c.1455-30G>A r.(=) p.(=) g.153760525C>T Copied from the Exome Variant Server G6PD_000069 1/10563 1/6728 0/3835
?/? c.1455-13T>C r.(=) p.(=) g.153760508A>G Copied from the Exome Variant Server G6PD_000068 4144/10562 893/6727 3251/3835
?/? c.1495C>T r.(=) p.(=) g.153760455G>A Copied from the Exome Variant Server G6PD_000067 1/10563 1/6728 0/3835
?/? c.1521C>T r.(=) p.(=) g.153760429G>A Copied from the Exome Variant Server G6PD_000066 325/10562 0/6727 325/3835
?/? c.1533C>T r.(=) p.(=) g.153760417G>A Copied from the Exome Variant Server G6PD_000065 1/10556 0/6723 1/3833
?/? c.1547+31C>G r.(=) p.(=) g.153760372G>C Copied from the Exome Variant Server G6PD_000064 10/10556 10/6724 0/3832
?/? c.1547+47G>C r.(=) p.(=) g.153760356C>G Copied from the Exome Variant Server G6PD_000063 4/10550 4/6722 0/3828
?/? c.1548-39G>C r.(=) p.(=) g.153760344C>G Copied from the Exome Variant Server G6PD_000062 1/10557 0/6725 1/3832
?/? c.1548-13C>G r.(=) p.(=) g.153760318G>C Copied from the Exome Variant Server G6PD_000061 17/10560 0/6726 17/3834
?/? c.1548-12G>A r.(=) p.(=) g.153760317C>T Copied from the Exome Variant Server G6PD_000060 4/10560 4/6726 0/3834
?/? c.1607C>G r.(?) p.(Thr536Ser) g.153760246G>C Copied from the Exome Variant Server G6PD_000059 1/10562 1/6727 0/3835
?/? c.*49C>T r.(=) p.(=) g.153760166G>A Copied from the Exome Variant Server G6PD_000058 1/10148 0/6446 1/3702
?/? c.*50G>A r.(=) p.(=) g.153760165C>T Copied from the Exome Variant Server G6PD_000057 3/10110 0/6427 3/3683
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