All transcript variants in gene GZMA

Information The variants shown are described using the NM_006144.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.18A>G r.(=) p.(=) g.54398528A>G Copied from the Exome Variant Server GZMA_000005 1/13006 0/8600 1/4406
?/? c.70G>T r.(?) p.(Asp24Tyr) g.54398580G>T Copied from the Exome Variant Server GZMA_000007 5/13006 5/8600 0/4406
?/? c.70+3A>G r.spl? p.? g.54398583A>G Copied from the Exome Variant Server GZMA_000010 1/13006 1/8600 0/4406
?/? c.70+35T>C r.(=) p.(=) g.54398615T>C Copied from the Exome Variant Server GZMA_000001 4/13006 4/8600 0/4406
?/? c.70+49G>A r.(=) p.(=) g.54398629G>A Copied from the Exome Variant Server GZMA_000002 35/13006 0/8600 35/4406
?/? c.70+65del r.(=) p.(=) g.54398645del Copied from the Exome Variant Server GZMA_000003 1/12520 1/8254 0/4266
?/? c.71-36G>A r.(=) p.(=) g.54401266G>A Copied from the Exome Variant Server GZMA_000004 1/13006 1/8600 0/4406
?/? c.71-11C>T r.(=) p.(=) g.54401291C>T Copied from the Exome Variant Server GZMA_000006 1/13006 1/8600 0/4406
?/? c.71A>T r.(?) p.(Asp24Val) g.54401302A>T Copied from the Exome Variant Server GZMA_000008 1/13006 0/8600 1/4406
?/? c.90T>C r.(=) p.(=) g.54401321T>C Copied from the Exome Variant Server GZMA_000009 5/13006 0/8600 5/4406
?/? c.126C>T r.(=) p.(=) g.54401357C>T Copied from the Exome Variant Server GZMA_000011 1/13006 1/8600 0/4406
?/? c.215+14T>C r.(=) p.(=) g.54401460T>C Copied from the Exome Variant Server GZMA_000012 18/13006 18/8600 0/4406
?/? c.215+19del r.(=) p.(=) g.54401465del Copied from the Exome Variant Server GZMA_000013 1/12520 1/8254 0/4266
?/? c.216-43T>A r.(=) p.(=) g.54403579T>A Copied from the Exome Variant Server GZMA_000014 16/13006 0/8600 16/4406
?/? c.251del r.(?) p.(Ser84*) g.54403657del Copied from the Exome Variant Server GZMA_000015 1/12520 1/8254 0/4266
?/? c.265G>T r.(?) p.(Glu89*) g.54403671G>T Copied from the Exome Variant Server GZMA_000016 1/13006 1/8600 0/4406
?/? c.272C>T r.(?) p.(Thr91Ile) g.54403678C>T Copied from the Exome Variant Server GZMA_000017 1/13006 0/8600 1/4406
?/? c.273A>C r.(=) p.(=) g.54403679A>C Copied from the Exome Variant Server GZMA_000019 1/13006 1/8600 0/4406
?/? c.273del r.(?) p.(Lys92Asnfs*3) g.54403679del Copied from the Exome Variant Server GZMA_000018 39/12520 26/8254 13/4266
?/? c.301T>C r.(?) p.(Phe101Leu) g.54403707T>C Copied from the Exome Variant Server GZMA_000020 1/13006 1/8600 0/4406
?/? c.304C>T r.(?) p.(Pro102Ser) g.54403710C>T Copied from the Exome Variant Server GZMA_000021 1/13006 0/8600 1/4406
?/? c.331C>T r.(?) p.(Arg111Cys) g.54403737C>T Copied from the Exome Variant Server GZMA_000022 7/13006 0/8600 7/4406
?/? c.357+7A>T r.(=) p.(=) g.54403770A>T Copied from the Exome Variant Server GZMA_000023 1/13006 1/8600 0/4406
?/? c.357+21T>C r.(=) p.(=) g.54403784T>C Copied from the Exome Variant Server GZMA_000024 7/13006 6/8600 1/4406
?/? c.362T>C N/A N/A g.54403957T>C Copied from the Exome Variant Server GZMA_000025 12603/13006 8451/8600 4152/4406
?/? c.375A>T r.(?) p.(Lys125Asn) g.54403970A>T Copied from the Exome Variant Server GZMA_000026 1/13006 1/8600 0/4406
?/? c.395T>C r.(?) p.(Ile132Thr) g.54403990T>C Copied from the Exome Variant Server GZMA_000027 1/13006 1/8600 0/4406
?/? c.420C>T N/A N/A g.54404015C>T Copied from the Exome Variant Server GZMA_000028 12602/13006 8449/8600 4153/4406
?/? c.458G>T r.(?) p.(Trp153Leu) g.54404053G>T Copied from the Exome Variant Server GZMA_000029 2/13006 0/8600 2/4406
?/? c.462C>G r.(=) p.(=) g.54404057C>G Copied from the Exome Variant Server GZMA_000030 2192/13006 1199/8600 993/4406
?/? c.481T>C r.(?) p.(Ser161Pro) g.54404076T>C Copied from the Exome Variant Server GZMA_000031 1/13006 1/8600 0/4406
?/? c.490G>A r.(?) p.(Asp164Asn) g.54404085G>A Copied from the Exome Variant Server GZMA_000032 1/13006 0/8600 1/4406
?/? c.494C>T r.(?) p.(Thr165Ile) g.54404089C>T Copied from the Exome Variant Server GZMA_000033 1/13006 0/8600 1/4406
?/? c.515C>T r.(?) p.(Thr172Ile) g.54404110C>T Copied from the Exome Variant Server GZMA_000034 8/13006 0/8600 8/4406
?/? c.544C>T r.(?) p.(Arg182*) g.54404139C>T Copied from the Exome Variant Server GZMA_000035 1/13006 1/8600 0/4406
?/? c.545G>A r.(?) p.(Arg182Gln) g.54404140G>A Copied from the Exome Variant Server GZMA_000036 2/13006 2/8600 0/4406
?/? c.547A>C r.(?) p.(Asn183His) g.54404142A>C Copied from the Exome Variant Server GZMA_000037 1/13006 0/8600 1/4406
?/? c.549T>A r.(?) p.(Asn183Lys) g.54404144T>A Copied from the Exome Variant Server GZMA_000038 1/13006 1/8600 0/4406
?/? c.555T>C r.(=) p.(=) g.54404150T>C Copied from the Exome Variant Server GZMA_000039 1/13006 1/8600 0/4406
?/? c.578T>C r.(?) p.(Met193Thr) g.54404173T>C Copied from the Exome Variant Server GZMA_000040 2/13006 2/8600 0/4406
?/? c.583A>G r.(?) p.(Met195Val) g.54404178A>G Copied from the Exome Variant Server GZMA_000041 217/13006 3/8600 214/4406
?/? c.596G>A r.(?) p.(Gly199Glu) g.54404191G>A Copied from the Exome Variant Server GZMA_000042 5/13006 5/8600 0/4406
?/? c.607G>A r.(?) p.(Gly203Ser) g.54404202G>A Copied from the Exome Variant Server GZMA_000043 1/13006 0/8600 1/4406
?/? c.627+22G>A r.(=) p.(=) g.54404244G>A Copied from the Exome Variant Server GZMA_000044 1/13006 0/8600 1/4406
?/? c.627+31_627+32insT r.(=) p.(=) g.54404253_54404254insT Copied from the Exome Variant Server GZMA_000045 2/12516 2/8252 0/4264
?/? c.627+39del r.(=) p.(=) g.54404261del Copied from the Exome Variant Server GZMA_000046 4/12518 1/8254 3/4264
?/? c.627+50A>G r.(=) p.(=) g.54404272A>G Copied from the Exome Variant Server GZMA_000048 1/13000 1/8598 0/4402
?/? c.654C>T r.(=) p.(=) g.54405875C>T Copied from the Exome Variant Server GZMA_000050 1/13006 1/8600 0/4406
?/? c.661_662insT r.(?) p.(Arg223Profs*9) g.54405882_54405883insT Copied from the Exome Variant Server GZMA_000051 1/12520 1/8254 0/4266
?/? c.666C>T r.(=) p.(=) g.54405887C>T Copied from the Exome Variant Server GZMA_000053 1/13006 1/8600 0/4406
?/? c.667C>T r.(?) p.(Arg223*) g.54405888C>T Copied from the Exome Variant Server GZMA_000056 1/13006 1/8600 0/4406
?/? c.668G>A r.(?) p.(Arg223Gln) g.54405889G>A Copied from the Exome Variant Server GZMA_000058 5/13006 3/8600 2/4406
?/? c.702C>T r.(=) p.(=) g.54405923C>T Copied from the Exome Variant Server GZMA_000059 1/13006 1/8600 0/4406
?/? c.703G>A r.(?) p.(Gly235Arg) g.54405924G>A Copied from the Exome Variant Server GZMA_000047 1/13006 1/8600 0/4406
?/? c.711T>C r.(=) p.(=) g.54405932T>C Copied from the Exome Variant Server GZMA_000049 1/13006 1/8600 0/4406
?/? c.712C>T r.(?) p.(Arg238Cys) g.54405933C>T Copied from the Exome Variant Server GZMA_000052 2/13006 2/8600 0/4406
?/? c.718C>G r.(?) p.(Pro240Ala) g.54405939C>G Copied from the Exome Variant Server GZMA_000054 1/13006 1/8600 0/4406
?/? c.755A>G r.(?) p.(Asn252Ser) g.54405976A>G Copied from the Exome Variant Server GZMA_000055 1/13006 0/8600 1/4406
?/? c.778G>A r.(?) p.(Gly260Arg) g.54405999G>A Copied from the Exome Variant Server GZMA_000057 2/13006 2/8600 0/4406
?/? c.*5C>A r.(=) p.(=) g.54406015C>A Copied from the Exome Variant Server GZMA_000060 5/13006 1/8600 4/4406
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