Unique variants in gene PRSS1

Information The variants shown are described using the NM_002769.4 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-10C>A r.(=) p.(=) g.142457326C>A Copied from the Exome Variant Server PRSS1_000001 4/13006 0/8600 4/4406
1 c.6T>A r.(?) p.(Asn2Lys) g.142457341T>A Copied from the Exome Variant Server PRSS1_000002 3/13006 3/8600 0/4406
1 c.40+1G>A r.spl? p.? g.142457376G>A Copied from the Exome Variant Server PRSS1_000003 2/13006 0/8600 2/4406
1 c.40+10A>G r.(=) p.(=) g.142457385A>G Copied from the Exome Variant Server PRSS1_000004 12/13006 11/8600 1/4406
1 c.40+12G>A r.(=) p.(=) g.142457387G>A Copied from the Exome Variant Server PRSS1_000007 1/13006 0/8600 1/4406
1 c.40+13C>T r.(=) p.(=) g.142457388C>T Copied from the Exome Variant Server PRSS1_000009 3/13006 1/8600 2/4406
1 c.40+34C>T r.(=) p.(=) g.142457409C>T Copied from the Exome Variant Server PRSS1_000008 20/13006 0/8600 20/4406
1 c.40+34del r.(=) p.(=) g.142457409del Copied from the Exome Variant Server PRSS1_000006 5/12518 2/8254 3/4264
1 c.40+34dup r.(=) p.(=) g.142457409dup Copied from the Exome Variant Server PRSS1_000005 16/12518 10/8254 6/4264
1 c.40+36C>G r.(=) p.(=) g.142457411C>G Copied from the Exome Variant Server PRSS1_000010 5/13006 0/8600 5/4406
1 c.40+41G>A r.(=) p.(=) g.142457416G>A Copied from the Exome Variant Server PRSS1_000011 3/13006 2/8600 1/4406
1 c.40+47G>C r.(=) p.(=) g.142457422G>C Copied from the Exome Variant Server PRSS1_000012 3/13006 1/8600 2/4406
1 c.40+50C>T r.(=) p.(=) g.142457425C>T Copied from the Exome Variant Server PRSS1_000013 4/13006 0/8600 4/4406
1 c.40+82C>A r.(=) p.(=) g.142457457C>A Copied from the Exome Variant Server PRSS1_000014 8/4566 8/3182 0/1384
1 c.41-49C>T r.(=) p.(=) g.142458357C>T Copied from the Exome Variant Server PRSS1_000015 5/13006 5/8600 0/4406
1 c.41-38C>T r.(=) p.(=) g.142458368C>T Copied from the Exome Variant Server PRSS1_000016 2/13006 2/8600 0/4406
1 c.182C>A r.(?) p.(Ala61Glu) g.142458547C>A Copied from the Exome Variant Server PRSS1_000017 1/13006 1/8600 0/4406
1 c.200+7G>C r.(=) p.(=) g.142458572G>C Copied from the Exome Variant Server PRSS1_000018 1/13006 0/8600 1/4406
1 c.200+23C>T r.(=) p.(=) g.142458588C>T Copied from the Exome Variant Server PRSS1_000019 93/13006 0/8600 93/4406
1 c.200+30C>T r.(=) p.(=) g.142458595C>T Copied from the Exome Variant Server PRSS1_000020 11/13006 0/8600 11/4406
1 c.200+32C>T r.(=) p.(=) g.142458597C>T Copied from the Exome Variant Server PRSS1_000021 68/13006 60/8600 8/4406
1 c.201-46C>T r.(=) p.(=) g.142459579C>T Copied from the Exome Variant Server PRSS1_000023 1/13006 1/8600 0/4406
1 c.201-36G>A r.(=) p.(=) g.142459589G>A Copied from the Exome Variant Server PRSS1_000025 5/13006 0/8600 5/4406
1 c.201-22C>T r.(=) p.(=) g.142459603C>T Copied from the Exome Variant Server PRSS1_000027 1/13006 1/8600 0/4406
1 c.235G>A r.(?) p.(Glu79Lys) g.142459659G>A Copied from the Exome Variant Server PRSS1_000029 2/13006 0/8600 2/4406
1 c.243G>C r.(=) p.(=) g.142459667G>C Copied from the Exome Variant Server PRSS1_000031 1/13006 1/8600 0/4406
1 c.247G>C r.(?) p.(Gly83Arg) g.142459671G>C Copied from the Exome Variant Server PRSS1_000033 1/13006 1/8600 0/4406
1 c.256C>T r.(?) p.(Gln86*) g.142459680C>T Copied from the Exome Variant Server PRSS1_000035 1/13006 1/8600 0/4406
1 c.279C>T r.(=) p.(=) g.142459703C>T Copied from the Exome Variant Server PRSS1_000037 77/13006 0/8600 77/4406
1 c.284G>A r.(?) p.(Arg95His) g.142459708G>A Copied from the Exome Variant Server PRSS1_000038 1/13006 1/8600 0/4406
1 c.291C>G r.(=) p.(=) g.142459715C>G Copied from the Exome Variant Server PRSS1_000041 1/13006 1/8600 0/4406
1 c.364C>T r.(?) p.(Arg122Cys) g.142459788C>T Copied from the Exome Variant Server PRSS1_000022 2/13006 2/8600 0/4406
1 c.367G>A r.(?) p.(Val123Met) g.142459791G>A Copied from the Exome Variant Server PRSS1_000024 1/13006 1/8600 0/4406
1 c.391G>T r.(?) p.(Ala131Ser) g.142459815G>T Copied from the Exome Variant Server PRSS1_000026 1/13006 0/8600 1/4406
1 c.410C>T r.(?) p.(Thr137Met) g.142459834C>T Copied from the Exome Variant Server PRSS1_000028 1/13006 1/8600 0/4406
1 c.411G>A r.(=) p.(=) g.142459835G>A Copied from the Exome Variant Server PRSS1_000030 1/13006 1/8600 0/4406
1 c.447C>A r.(?) p.(Ser149Arg) g.142459871C>A Copied from the Exome Variant Server PRSS1_000032 1/13006 0/8600 1/4406
1 c.454+3G>A r.spl? p.? g.142459881G>A Copied from the Exome Variant Server PRSS1_000034 1/13006 0/8600 1/4406
1 c.455-47C>T r.(=) p.(=) g.142460235C>T Copied from the Exome Variant Server PRSS1_000036 6/13006 0/8600 6/4406
1 c.455-42C>T r.(=) p.(=) g.142460240C>T Copied from the Exome Variant Server PRSS1_000039 1/13006 0/8600 1/4406
1 c.455-38C>T r.(=) p.(=) g.142460244C>T Copied from the Exome Variant Server PRSS1_000040 1/13006 0/8600 1/4406
1 c.457G>C r.(?) p.(Asp153His) g.142460284G>C Copied from the Exome Variant Server PRSS1_000042 19/13006 0/8600 19/4406
1 c.468C>T r.(=) p.(=) g.142460295C>T Copied from the Exome Variant Server PRSS1_000043 3/13006 1/8600 2/4406
1 c.541A>G r.(?) p.(Ser181Gly) g.142460368A>G Copied from the Exome Variant Server PRSS1_000044 1/13006 0/8600 1/4406
1 c.591+1G>T r.spl? p.? g.142460419G>T Copied from the Exome Variant Server PRSS1_000045 1/13006 1/8600 0/4406
1 c.591+8G>C r.(=) p.(=) g.142460426G>C Copied from the Exome Variant Server PRSS1_000046 1/13006 1/8600 0/4406
1 c.591+18T>A r.(=) p.(=) g.142460436T>A Copied from the Exome Variant Server PRSS1_000047 2/13006 2/8600 0/4406
1 c.592-32T>A r.(=) p.(=) g.142460687T>A Copied from the Exome Variant Server PRSS1_000048 1/13006 1/8600 0/4406
1 c.592-31C>T r.(=) p.(=) g.142460688C>T Copied from the Exome Variant Server PRSS1_000049 16/13006 0/8600 16/4406
1 c.592-24C>T r.(=) p.(=) g.142460695C>T Copied from the Exome Variant Server PRSS1_000050 49/13006 42/8600 7/4406
1 c.592-11C>T r.(=) p.(=) g.142460708C>T Copied from the Exome Variant Server PRSS1_000051 22/13006 21/8600 1/4406
1 c.592-8C>T r.(=) p.(=) g.142460711C>T Copied from the Exome Variant Server PRSS1_000052 12/13006 12/8600 0/4406
1 c.592-4C>T r.spl? p.? g.142460715C>T Copied from the Exome Variant Server PRSS1_000053 1/13006 1/8600 0/4406
1 c.606C>T r.(=) p.(=) g.142460733C>T Copied from the Exome Variant Server PRSS1_000054 1/13006 1/8600 0/4406
1 c.621T>C r.(=) p.(=) g.142460748T>C Copied from the Exome Variant Server PRSS1_000055 5/13006 0/8600 5/4406
1 c.642C>A r.(=) p.(=) g.142460769C>A Copied from the Exome Variant Server PRSS1_000056 2/13006 0/8600 2/4406
1 c.654T>C r.(=) p.(=) g.142460781T>C Copied from the Exome Variant Server PRSS1_000057 1/13006 1/8600 0/4406
1 c.675G>A r.(=) p.(=) g.142460802G>A Copied from the Exome Variant Server PRSS1_000058 1/13006 1/8600 0/4406
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