Unique variants in gene CA14

Information The variants shown are described using the NM_012113.1 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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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.12C>T r.(=) p.(=) g.150230535C>T Copied from the Exome Variant Server CA14_000008 1/13006 1/8600 0/4406
1 c.40C>A r.(?) p.(Leu14Met) g.150230563C>A Copied from the Exome Variant Server CA14_000010 3/13006 0/8600 3/4406
1 c.55G>T r.(?) p.(Gly19Cys) g.150230578G>T Copied from the Exome Variant Server CA14_000012 11/13006 10/8600 1/4406
1 c.55+47_55+48del r.(=) p.(=) g.150230625_150230626del Copied from the Exome Variant Server CA14_000014 4/12518 4/8252 0/4266
1 c.55+51C>T r.(=) p.(=) g.150230629C>T Copied from the Exome Variant Server CA14_000001 3/13006 0/8600 3/4406
1 c.55+68G>T r.(=) p.(=) g.150230646G>T Copied from the Exome Variant Server CA14_000002 3/4566 0/3182 3/1384
1 c.56-34C>T r.(=) p.(=) g.150232512C>T Copied from the Exome Variant Server CA14_000003 1/13006 1/8600 0/4406
1 c.56-12T>A r.(=) p.(=) g.150232534T>A Copied from the Exome Variant Server CA14_000004 136/13006 1/8600 135/4406
1 c.56-11C>G r.(=) p.(=) g.150232535C>G Copied from the Exome Variant Server CA14_000005 1/13006 1/8600 0/4406
1 c.56G>T r.(?) p.(Gly19Val) g.150232546G>T Copied from the Exome Variant Server CA14_000006 1/13006 0/8600 1/4406
1 c.62A>C r.(?) p.(His21Pro) g.150232552A>C Copied from the Exome Variant Server CA14_000007 4/13006 0/8600 4/4406
1 c.76+24G>A r.(=) p.(=) g.150232590G>A Copied from the Exome Variant Server CA14_000009 1/13006 1/8600 0/4406
1 c.76+28A>G r.(=) p.(=) g.150232594A>G Copied from the Exome Variant Server CA14_000011 1/13006 1/8600 0/4406
1 c.76+75C>T r.(=) p.(=) g.150232641C>T Copied from the Exome Variant Server CA14_000013 1/4566 0/3182 1/1384
1 c.76+92C>G r.(=) p.(=) g.150232658C>G Copied from the Exome Variant Server CA14_000015 1/4566 0/3182 1/1384
1 c.77-34G>A r.(=) p.(=) g.150233824G>A Copied from the Exome Variant Server CA14_000016 1/13006 0/8600 1/4406
1 c.77-28G>A r.(=) p.(=) g.150233830G>A Copied from the Exome Variant Server CA14_000017 4/13006 3/8600 1/4406
1 c.77-17T>C r.(=) p.(=) g.150233841T>C Copied from the Exome Variant Server CA14_000018 1/13006 1/8600 0/4406
1 c.77-15G>T r.(=) p.(=) g.150233843G>T Copied from the Exome Variant Server CA14_000019 1/13006 1/8600 0/4406
1 c.113_114del r.(?) p.(Pro38Argfs*20) g.150233894_150233895del Copied from the Exome Variant Server CA14_000020 1/12520 1/8254 0/4266
1 c.178G>A r.(?) p.(Asp60Asn) g.150233959G>A Copied from the Exome Variant Server CA14_000021 2/13006 0/8600 2/4406
1 c.222C>T r.(=) p.(=) g.150234003C>T Copied from the Exome Variant Server CA14_000022 1/13006 1/8600 0/4406
1 c.247G>A r.(?) p.(Gly83Ser) g.150234028G>A Copied from the Exome Variant Server CA14_000023 3/13006 3/8600 0/4406
1 c.256+26G>T r.(=) p.(=) g.150234063G>T Copied from the Exome Variant Server CA14_000024 2/13006 2/8600 0/4406
1 c.256+31C>T r.(=) p.(=) g.150234068C>T Copied from the Exome Variant Server CA14_000025 1/13006 1/8600 0/4406
1 c.257-22G>A r.(=) p.(=) g.150234535G>A Copied from the Exome Variant Server CA14_000026 2/13006 2/8600 0/4406
1 c.289G>A r.(?) p.(Gly97Ser) g.150234589G>A Copied from the Exome Variant Server CA14_000027 2/13006 0/8600 2/4406
1 c.302G>A r.(?) p.(Arg101Gln) g.150234602G>A Copied from the Exome Variant Server CA14_000028 1/13006 0/8600 1/4406
1 c.357G>T r.(=) p.(=) g.150234657G>T Copied from the Exome Variant Server CA14_000029 1593/13006 1443/8600 150/4406
1 c.392T>C r.(?) p.(Phe131Ser) g.150234692T>C Copied from the Exome Variant Server CA14_000030 1/13006 1/8600 0/4406
1 c.399+27_399+28insA r.(=) p.(=) g.150234726_150234727insA Copied from the Exome Variant Server CA14_000031 1/12520 0/8254 1/4266
1 c.400-42G>A r.(=) p.(=) g.150234882G>A Copied from the Exome Variant Server CA14_000033 86/13006 1/8600 85/4406
1 c.415_416del r.(?) p.(Tyr139*) g.150234939_150234940del Copied from the Exome Variant Server CA14_000035 9/12518 9/8252 0/4266
1 c.420C>T r.(=) p.(=) g.150234944C>T Copied from the Exome Variant Server CA14_000036 1/13006 1/8600 0/4406
1 c.420_421del r.(?) p.(Ser141*) g.150234944_150234945del Copied from the Exome Variant Server CA14_000038 7/12518 3/8252 4/4266
1 c.447G>A r.(=) p.(=) g.150234971G>A Copied from the Exome Variant Server CA14_000040 331/13006 1/8600 330/4406
1 c.478C>T r.(=) p.(=) g.150235002C>T Copied from the Exome Variant Server CA14_000042 1/13006 1/8600 0/4406
1 c.496-43A>G r.(=) p.(=) g.150235160A>G Copied from the Exome Variant Server CA14_000044 1/13006 0/8600 1/4406
1 c.496-31T>C r.(=) p.(=) g.150235172T>C Copied from the Exome Variant Server CA14_000045 7/13006 5/8600 2/4406
1 c.501T>C r.(=) p.(=) g.150235208T>C Copied from the Exome Variant Server CA14_000046 1/13006 0/8600 1/4406
1 c.562+22C>G r.(=) p.(=) g.150235291C>G Copied from the Exome Variant Server CA14_000048 26/13006 20/8600 6/4406
1 c.562+57del r.(=) p.(=) g.150235326del Copied from the Exome Variant Server CA14_000051 325/12516 11/8250 314/4266
1 c.563-48A>C r.(=) p.(=) g.150235393A>C Copied from the Exome Variant Server CA14_000053 1/13006 1/8600 0/4406
1 c.563-36C>G r.(=) p.(=) g.150235405C>G Copied from the Exome Variant Server CA14_000056 2/13006 1/8600 1/4406
1 c.579G>A r.(=) p.(=) g.150235457G>A Copied from the Exome Variant Server CA14_000059 1/13006 0/8600 1/4406
1 c.597A>T r.(?) p.(Arg199Ser) g.150235475A>T Copied from the Exome Variant Server CA14_000062 1/13006 0/8600 1/4406
1 c.632G>A r.(?) p.(Arg211His) g.150235510G>A Copied from the Exome Variant Server CA14_000065 1/13006 1/8600 0/4406
1 c.642C>T r.(=) p.(=) g.150235520C>T Copied from the Exome Variant Server CA14_000067 1/13006 0/8600 1/4406
1 c.644C>T r.(?) p.(Ser215Leu) g.150235522C>T Copied from the Exome Variant Server CA14_000069 1/13006 1/8600 0/4406
1 c.654T>G r.(=) p.(=) g.150235532T>G Copied from the Exome Variant Server CA14_000072 1/13006 1/8600 0/4406
1 c.661T>G r.(?) p.(Cys221Gly) g.150235539T>G Copied from the Exome Variant Server CA14_000074 2/13006 0/8600 2/4406
1 c.668A>G r.(?) p.(Gln223Arg) g.150235546A>G Copied from the Exome Variant Server CA14_000078 1/13006 0/8600 1/4406
1 c.684A>G r.(=) p.(=) g.150235562A>G Copied from the Exome Variant Server CA14_000081 1/13006 1/8600 0/4406
1 c.685_686insT r.(?) p.(Tyr231Leufs*2) g.150235563_150235564insT Copied from the Exome Variant Server CA14_000084 2/12518 2/8252 0/4266
1 c.714del r.(?) p.(Glu239Asnfs*53) g.150235592del Copied from the Exome Variant Server CA14_000032 1/12518 1/8252 0/4266
1 c.720+13G>T r.(=) p.(=) g.150235611G>T Copied from the Exome Variant Server CA14_000087 1/13006 1/8600 0/4406
1 c.720+30G>A r.(=) p.(=) g.150235628G>A Copied from the Exome Variant Server CA14_000034 1/13006 1/8600 0/4406
1 c.720+34C>G r.(=) p.(=) g.150235632C>G Copied from the Exome Variant Server CA14_000088 3/13006 3/8600 0/4406
1 c.721-6C>T r.(=) p.(=) g.150235692C>T Copied from the Exome Variant Server CA14_000037 1/13006 0/8600 1/4406
1 c.735G>A r.(=) p.(=) g.150235712G>A Copied from the Exome Variant Server CA14_000039 2/13006 2/8600 0/4406
1 c.738G>A r.(=) p.(=) g.150235715G>A Copied from the Exome Variant Server CA14_000041 1/13006 0/8600 1/4406
1 c.759G>A r.(=) p.(=) g.150235736G>A Copied from the Exome Variant Server CA14_000043 1/13006 1/8600 0/4406
1 c.814C>T r.(?) p.(Arg272Cys) g.150235791C>T Copied from the Exome Variant Server CA14_000089 1/13006 1/8600 0/4406
1 c.815G>A r.(?) p.(Arg272His) g.150235792G>A Copied from the Exome Variant Server CA14_000047 1/13006 0/8600 1/4406
1 c.816C>A r.(=) p.(=) g.150235793C>A Copied from the Exome Variant Server CA14_000049 1/13006 1/8600 0/4406
1 c.841+12C>T r.(=) p.(=) g.150235830C>T Copied from the Exome Variant Server CA14_000050 4/13006 2/8600 2/4406
1 c.841+13G>A r.(=) p.(=) g.150235831G>A Copied from the Exome Variant Server CA14_000052 7/13006 0/8600 7/4406
1 c.842-64A>G r.(=) p.(=) g.150235994A>G Copied from the Exome Variant Server CA14_000055 1/4566 0/3182 1/1384
1 c.842-62A>T r.(=) p.(=) g.150235996A>T Copied from the Exome Variant Server CA14_000057 3/4566 3/3182 0/1384
1 c.842-56G>A r.(=) p.(=) g.150236002G>A Copied from the Exome Variant Server CA14_000060 1/4566 1/3182 0/1384
1 c.842-49G>C r.(=) p.(=) g.150236009G>C Copied from the Exome Variant Server CA14_000063 7/13006 0/8600 7/4406
1 c.842-38G>A r.(=) p.(=) g.150236020G>A Copied from the Exome Variant Server CA14_000066 2/13006 2/8600 0/4406
1 c.842-23T>C r.(=) p.(=) g.150236035T>C Copied from the Exome Variant Server CA14_000070 2/13006 0/8600 2/4406
1 c.859A>G r.(?) p.(Thr287Ala) g.150236075A>G Copied from the Exome Variant Server CA14_000073 1/13006 1/8600 0/4406
1 c.862+1G>A r.spl? p.? g.150236079G>A Copied from the Exome Variant Server CA14_000076 2/13006 2/8600 0/4406
1 c.862+29G>A r.(=) p.(=) g.150236107G>A Copied from the Exome Variant Server CA14_000079 411/13006 383/8600 28/4406
1 c.862+36G>A r.(=) p.(=) g.150236114G>A Copied from the Exome Variant Server CA14_000082 2/13006 0/8600 2/4406
1 c.863-38A>T r.(=) p.(=) g.150236155A>T Copied from the Exome Variant Server CA14_000085 1/13006 1/8600 0/4406
1 c.863-4C>T r.spl? p.? g.150236189C>T Copied from the Exome Variant Server CA14_000086 5/13006 5/8600 0/4406
1 c.937A>G r.(?) p.(Arg313Gly) g.150236267A>G Copied from the Exome Variant Server CA14_000054 1/13006 1/8600 0/4406
1 c.947+12C>T r.(=) p.(=) g.150236289C>T Copied from the Exome Variant Server CA14_000058 2/13006 0/8600 2/4406
1 c.947+29del r.(=) p.(=) g.150236306del Copied from the Exome Variant Server CA14_000061 4/12520 0/8254 4/4266
1 c.947+30_947+33del r.(=) p.(=) g.150236307_150236310del Copied from the Exome Variant Server CA14_000064 4/12520 0/8254 4/4266
1 c.947+34_947+35insT r.(=) p.(=) g.150236311_150236312insT Copied from the Exome Variant Server CA14_000068 492/12514 13/8252 479/4262
1 c.947+39_947+40insC r.(=) p.(=) g.150236316_150236317insC Copied from the Exome Variant Server CA14_000071 32/12518 13/8252 19/4266
1 c.969_970del r.(?) p.(Lys324Glufs*12) g.150237014_150237015del Copied from the Exome Variant Server CA14_000075 1/12520 1/8254 0/4266
1 c.975T>G r.(?) p.(Ser325Arg) g.150237020T>G Copied from the Exome Variant Server CA14_000077 2/13006 2/8600 0/4406
1 c.981C>T r.(=) p.(=) g.150237026C>T Copied from the Exome Variant Server CA14_000080 1/13006 0/8600 1/4406
1 c.*46T>C r.(=) p.(=) g.150237105T>C Copied from the Exome Variant Server CA14_000083 1/13006 0/8600 1/4406
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