All transcript variants in gene SEC22C

Information The variants shown are described using the NM_004206.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-26T>C r.(=) p.(=) g.42610564A>G Copied from the Exome Variant Server SEC22C_000054 1/13006 1/8600 0/4406
?/? c.-20C>T r.(=) p.(=) g.42610558G>A Copied from the Exome Variant Server SEC22C_000053 1/13006 0/8600 1/4406
?/? c.24C>T r.(=) p.(=) g.42610515G>A Copied from the Exome Variant Server SEC22C_000052 3098/13006 1608/8600 1490/4406
?/? c.58G>A r.(?) p.(Ala20Thr) g.42610481C>T Copied from the Exome Variant Server SEC22C_000051 1/13006 1/8600 0/4406
?/? c.69T>C r.(=) p.(=) g.42610470A>G Copied from the Exome Variant Server SEC22C_000050 1/13006 0/8600 1/4406
?/? c.92_93insT r.(?) p.(Leu31Phefs*27) g.42610446_42610447insA Copied from the Exome Variant Server SEC22C_000049 1/12520 1/8254 0/4266
?/? c.125T>G r.(?) p.(Leu42Trp) g.42610414A>C Copied from the Exome Variant Server SEC22C_000048 1/13006 0/8600 1/4406
?/? c.128G>A r.(?) p.(Arg43Gln) g.42610411C>T Copied from the Exome Variant Server SEC22C_000047 8/13006 7/8600 1/4406
?/? c.157G>A r.(?) p.(Ala53Thr) g.42610382C>T Copied from the Exome Variant Server SEC22C_000046 1/13006 0/8600 1/4406
?/? c.165T>C r.(=) p.(=) g.42610374A>G Copied from the Exome Variant Server SEC22C_000045 5865/13006 2798/8600 3067/4406
?/? c.183-14C>T r.(=) p.(=) g.42605192G>A Copied from the Exome Variant Server SEC22C_000044 1/13006 0/8600 1/4406
?/? c.239C>T r.(?) p.(Ala80Val) g.42605122G>A Copied from the Exome Variant Server SEC22C_000043 1/13006 1/8600 0/4406
?/? c.330C>T r.(=) p.(=) g.42605031G>A Copied from the Exome Variant Server SEC22C_000042 4/13006 4/8600 0/4406
?/? c.346+3T>C r.spl? p.? g.42605012A>G Copied from the Exome Variant Server SEC22C_000041 2/13006 0/8600 2/4406
?/? c.346+11C>T r.(=) p.(=) g.42605004G>A Copied from the Exome Variant Server SEC22C_000040 1/13006 1/8600 0/4406
?/? c.346+15_346+16del r.(=) p.(=) g.42604999_42605000del Copied from the Exome Variant Server SEC22C_000039 15/12520 8/8254 7/4266
?/? c.362A>G r.(?) p.(Lys121Arg) g.42602773T>C Copied from the Exome Variant Server SEC22C_000038 5/13006 5/8600 0/4406
?/? c.370T>C r.(?) p.(Trp124Arg) g.42602765A>G Copied from the Exome Variant Server SEC22C_000037 1/13006 0/8600 1/4406
?/? c.398_401del r.(?) p.(Gln133Argfs*31) g.42602734_42602737del Copied from the Exome Variant Server SEC22C_000035 1/12518 0/8252 1/4266
?/? c.441G>A r.(=) p.(=) g.42602694C>T Copied from the Exome Variant Server SEC22C_000033 1/13006 1/8600 0/4406
?/? c.442C>T r.(?) p.(Gln148*) g.42602693G>A Copied from the Exome Variant Server SEC22C_000031 1/13006 1/8600 0/4406
?/? c.451G>A r.(?) p.(Ala151Thr) g.42602684C>T Copied from the Exome Variant Server SEC22C_000029 2/13006 0/8600 2/4406
?/? c.477T>A r.(?) p.(Asp159Glu) g.42602658A>T Copied from the Exome Variant Server SEC22C_000027 1/13006 1/8600 0/4406
?/? c.493A>G r.(?) p.(Met165Val) g.42602642T>C Copied from the Exome Variant Server SEC22C_000025 3/13006 3/8600 0/4406
?/? c.514C>T r.(?) p.(His172Tyr) g.42602621G>A Copied from the Exome Variant Server SEC22C_000023 5/13006 5/8600 0/4406
?/? c.526+25G>A r.(=) p.(=) g.42602584C>T Copied from the Exome Variant Server SEC22C_000021 3/13006 3/8600 0/4406
?/? c.526+29A>G r.(=) p.(=) g.42602580T>C Copied from the Exome Variant Server SEC22C_000019 91/13006 1/8600 90/4406
?/? c.526+44G>C r.(=) p.(=) g.42602565C>G Copied from the Exome Variant Server SEC22C_000036 1/13006 1/8600 0/4406
?/? c.527-46G>A r.(=) p.(=) g.42599234C>T Copied from the Exome Variant Server SEC22C_000034 5929/13006 2795/8600 3134/4406
?/? c.527-32C>A r.(=) p.(=) g.42599220G>T Copied from the Exome Variant Server SEC22C_000032 1/13006 1/8600 0/4406
?/? c.527-7T>C r.(=) p.(=) g.42599195A>G Copied from the Exome Variant Server SEC22C_000030 26/13006 0/8600 26/4406
?/? c.527-1G>T r.spl? p.? g.42599189C>A Copied from the Exome Variant Server SEC22C_000028 1/13006 1/8600 0/4406
?/? c.538C>T r.(?) p.(Arg180*) g.42599177G>A Copied from the Exome Variant Server SEC22C_000026 1/13006 0/8600 1/4406
?/? c.544G>A r.(?) p.(Glu182Lys) g.42599171C>T Copied from the Exome Variant Server SEC22C_000024 139/13006 122/8600 17/4406
?/? c.561G>C r.(=) p.(=) g.42599154C>G Copied from the Exome Variant Server SEC22C_000022 3/13006 3/8600 0/4406
?/? c.577A>G r.(?) p.(Ile193Val) g.42599138T>C Copied from the Exome Variant Server SEC22C_000020 2/13006 0/8600 2/4406
?/? c.590T>C r.(?) p.(Met197Thr) g.42599125A>G Copied from the Exome Variant Server SEC22C_000018 3/13006 0/8600 3/4406
?/? c.624C>T r.(=) p.(=) g.42599091G>A Copied from the Exome Variant Server SEC22C_000017 3448/13006 1736/8600 1712/4406
?/? c.645+24_645+25insA r.(=) p.(=) g.42599045_42599046insT Copied from the Exome Variant Server SEC22C_000014 1547/12502 848/8248 699/4254
?/? c.645+24_645+25insAA r.(=) p.(=) g.42599045_42599046insTT Copied from the Exome Variant Server SEC22C_000016 267/12502 3/8248 264/4254
?/? c.645+24_645+25insAAA r.(=) p.(=) g.42599045_42599046insTTT Copied from the Exome Variant Server SEC22C_000015 32/12502 0/8248 32/4254
?/? c.645+49T>C r.(=) p.(=) g.42599021A>G Copied from the Exome Variant Server SEC22C_000013 2/12968 2/8594 0/4374
?/? c.711+11C>T r.(=) p.(=) g.42597411G>A Copied from the Exome Variant Server SEC22C_000012 1/13006 1/8600 0/4406
?/? c.711+12G>A r.(=) p.(=) g.42597410C>T Copied from the Exome Variant Server SEC22C_000011 137/13006 126/8600 11/4406
?/? c.711+2544T>C r.(=) p.(=) g.42594878A>G Copied from the Exome Variant Server SEC22C_000010 1/13006 1/8600 0/4406
?/? c.711+2671T>C r.(=) p.(=) g.42594751A>G Copied from the Exome Variant Server SEC22C_000009 3/13006 3/8600 0/4406
?/? c.711+2730A>G r.(=) p.(=) g.42594692T>C Copied from the Exome Variant Server SEC22C_000008 13/13006 0/8600 13/4406
?/? c.712-32G>A r.(=) p.(=) g.42590181C>T Copied from the Exome Variant Server SEC22C_000007 1/13006 0/8600 1/4406
?/? c.712-30A>G r.(=) p.(=) g.42590179T>C Copied from the Exome Variant Server SEC22C_000006 1/13006 1/8600 0/4406
?/? c.731G>T r.(?) p.(Cys244Phe) g.42590130C>A Copied from the Exome Variant Server SEC22C_000005 1/13006 0/8600 1/4406
?/? c.742C>A r.(?) p.(Gln248Lys) g.42590119G>T Copied from the Exome Variant Server SEC22C_000004 6/13006 0/8600 6/4406
?/? c.*44A>C r.(=) p.(=) g.42590064T>G Copied from the Exome Variant Server SEC22C_000003 10/13006 5/8600 5/4406
?/? c.*48G>T r.(=) p.(=) g.42590060C>A Copied from the Exome Variant Server SEC22C_000002 1/13006 0/8600 1/4406
?/? c.*68T>G r.(=) p.(=) g.42590040A>C Copied from the Exome Variant Server SEC22C_000001 4/4566 0/3182 4/1384
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