Unique variants in gene ACTRT1

Information The variants shown are described using the NM_138289.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-52C>T r.(=) p.(=) g.127186237G>A Copied from the Exome Variant Server ACTRT1_000060 50/6006 2/3595 48/2411
1 c.-51G>A r.(=) p.(=) g.127186236C>T Copied from the Exome Variant Server ACTRT1_000059 1/10539 1/6709 0/3830
1 c.-19A>T r.(=) p.(=) g.127186204T>A Copied from the Exome Variant Server ACTRT1_000058 1/10557 1/6722 0/3835
1 c.-5C>A r.(=) p.(=) g.127186190G>T Copied from the Exome Variant Server ACTRT1_000057 22/10558 0/6725 22/3833
1 c.25G>A r.(?) p.(Val9Ile) g.127186161C>T Copied from the Exome Variant Server ACTRT1_000056 6/10563 0/6728 6/3835
1 c.37A>G r.(?) p.(Ile13Val) g.127186149T>C Copied from the Exome Variant Server ACTRT1_000055 18/10563 0/6728 18/3835
1 c.44del r.(?) p.(Asp15Alafs*34) g.127186142del Copied from the Exome Variant Server ACTRT1_000054 1/10195 1/6476 0/3719
1 c.85A>T r.(?) p.(Ile29Phe) g.127186101T>A Copied from the Exome Variant Server ACTRT1_000053 1/10562 1/6727 0/3835
1 c.94C>T r.(?) p.(Arg32Cys) g.127186092G>A Copied from the Exome Variant Server ACTRT1_000052 1/10561 1/6726 0/3835
1 c.107G>C r.(?) p.(Ser36Thr) g.127186079C>G Copied from the Exome Variant Server ACTRT1_000051 33/10563 0/6728 33/3835
1 c.111C>T r.(=) p.(=) g.127186075G>A Copied from the Exome Variant Server ACTRT1_000050 1/10563 0/6728 1/3835
1 c.112G>A r.(?) p.(Val38Ile) g.127186074C>T Copied from the Exome Variant Server ACTRT1_000049 1/10563 0/6728 1/3835
1 c.118G>A r.(?) p.(Gly40Arg) g.127186068C>T Copied from the Exome Variant Server ACTRT1_000048 1/10563 1/6728 0/3835
1 c.128A>T r.(?) p.(Lys43Ile) g.127186058T>A Copied from the Exome Variant Server ACTRT1_000047 2/10563 2/6728 0/3835
1 c.168C>A r.(?) p.(Phe56Leu) g.127186018G>T Copied from the Exome Variant Server ACTRT1_000046 3/10563 3/6728 0/3835
1 c.169G>A r.(?) p.(Val57Met) g.127186017C>T Copied from the Exome Variant Server ACTRT1_000045 1/10563 1/6728 0/3835
1 c.274C>T r.(?) p.(Leu92Phe) g.127185912G>A Copied from the Exome Variant Server ACTRT1_000044 1/10563 0/6728 1/3835
1 c.274_275insATC r.(?) p.(His91dup) g.127185911_127185912insGAT Copied from the Exome Variant Server ACTRT1_000043 1/10195 1/6476 0/3719
1 c.275T>C r.(?) p.(Leu92Pro) g.127185911A>G Copied from the Exome Variant Server ACTRT1_000042 1/10563 0/6728 1/3835
1 c.295G>A r.(?) p.(Val99Ile) g.127185891C>T Copied from the Exome Variant Server ACTRT1_000041 1/10563 1/6728 0/3835
1 c.303_304insC r.(?) p.(Ser102Glnfs*15) g.127185882_127185883insG Copied from the Exome Variant Server ACTRT1_000040 11/10195 9/6476 2/3719
1 c.308_309del r.(?) p.(Gln103Profs*13) g.127185877_127185878del Copied from the Exome Variant Server ACTRT1_000039 1/10195 1/6476 0/3719
1 c.328G>A r.(?) p.(Glu110Lys) g.127185858C>T Copied from the Exome Variant Server ACTRT1_000038 1/10563 1/6728 0/3835
1 c.376_378del r.(?) p.(Met126del) g.127185808_127185810del Copied from the Exome Variant Server ACTRT1_000037 7/10195 7/6476 0/3719
1 c.392G>A r.(?) p.(Ser131Asn) g.127185794C>T Copied from the Exome Variant Server ACTRT1_000036 1/10563 0/6728 1/3835
1 c.423G>A r.(=) p.(=) g.127185763C>T Copied from the Exome Variant Server ACTRT1_000035 1/10563 0/6728 1/3835
1 c.431C>T r.(?) p.(Ala144Val) g.127185755G>A Copied from the Exome Variant Server ACTRT1_000034 1/10563 0/6728 1/3835
1 c.465G>C r.(=) p.(=) g.127185721C>G Copied from the Exome Variant Server ACTRT1_000033 2/10563 2/6728 0/3835
1 c.528C>T r.(=) p.(=) g.127185658G>A Copied from the Exome Variant Server ACTRT1_000032 2/10563 1/6728 1/3835
1 c.529G>A r.(?) p.(Ala177Thr) g.127185657C>T Copied from the Exome Variant Server ACTRT1_000031 193/10563 173/6728 20/3835
1 c.543_544del r.(?) p.(Cys182Tyrfs*17) g.127185642_127185643del Copied from the Exome Variant Server ACTRT1_000030 1/10197 1/6478 0/3719
1 c.547_548insA r.(?) p.(Met183Asnfs*17) g.127185638_127185639insT Copied from the Exome Variant Server ACTRT1_000029 21/10197 21/6478 0/3719
1 c.581G>T r.(?) p.(Arg194Leu) g.127185605C>A Copied from the Exome Variant Server ACTRT1_000028 1/10563 1/6728 0/3835
1 c.631G>A r.(?) p.(Val211Met) g.127185555C>T Copied from the Exome Variant Server ACTRT1_000027 2/10563 2/6728 0/3835
1 c.667G>A r.(?) p.(Ala223Thr) g.127185519C>T Copied from the Exome Variant Server ACTRT1_000026 5/10563 1/6728 4/3835
1 c.686A>G r.(?) p.(Glu229Gly) g.127185500T>C Copied from the Exome Variant Server ACTRT1_000025 1/10563 1/6728 0/3835
1 c.692G>A r.(?) p.(Arg231His) g.127185494C>T Copied from the Exome Variant Server ACTRT1_000024 1/10563 1/6728 0/3835
1 c.705A>G r.(=) p.(=) g.127185481T>C Copied from the Exome Variant Server ACTRT1_000023 1/10563 0/6728 1/3835
1 c.731C>T r.(?) p.(Pro244Leu) g.127185455G>A Copied from the Exome Variant Server ACTRT1_000022 1/10563 0/6728 1/3835
1 c.735T>C r.(=) p.(=) g.127185451A>G Copied from the Exome Variant Server ACTRT1_000021 1/10563 1/6728 0/3835
1 c.747C>T r.(=) p.(=) g.127185439G>A Copied from the Exome Variant Server ACTRT1_000020 1/10563 1/6728 0/3835
1 c.777C>A r.(=) p.(=) g.127185409G>T Copied from the Exome Variant Server ACTRT1_000019 1/10563 0/6728 1/3835
1 c.778G>A r.(?) p.(Glu260Lys) g.127185408C>T Copied from the Exome Variant Server ACTRT1_000018 1/10563 1/6728 0/3835
1 c.811C>T r.(?) p.(His271Tyr) g.127185375G>A Copied from the Exome Variant Server ACTRT1_000017 7/10563 0/6728 7/3835
1 c.851T>C r.(?) p.(Met284Thr) g.127185335A>G Copied from the Exome Variant Server ACTRT1_000016 1/10563 0/6728 1/3835
1 c.875A>G r.(?) p.(Asn292Ser) g.127185311T>C Copied from the Exome Variant Server ACTRT1_000015 2/10563 2/6728 0/3835
1 c.887C>T r.(?) p.(Ala296Val) g.127185299G>A Copied from the Exome Variant Server ACTRT1_000014 2/10563 2/6728 0/3835
1 c.933G>A r.(=) p.(=) g.127185253C>T Copied from the Exome Variant Server ACTRT1_000013 1/10563 1/6728 0/3835
1 c.938G>C r.(?) p.(Arg313Thr) g.127185248C>G Copied from the Exome Variant Server ACTRT1_000012 1/10563 0/6728 1/3835
1 c.939G>T r.(?) p.(Arg313Ser) g.127185247C>A Copied from the Exome Variant Server ACTRT1_000011 153/10563 1/6728 152/3835
1 c.942C>T r.(=) p.(=) g.127185244G>A Copied from the Exome Variant Server ACTRT1_000010 3/10563 0/6728 3/3835
1 c.963G>A r.(=) p.(=) g.127185223C>T Copied from the Exome Variant Server ACTRT1_000009 1/10563 1/6728 0/3835
1 c.979C>T r.(?) p.(Pro327Ser) g.127185207G>A Copied from the Exome Variant Server ACTRT1_000008 3/10563 0/6728 3/3835
1 c.990C>A r.(=) p.(=) g.127185196G>T Copied from the Exome Variant Server ACTRT1_000007 1/10563 0/6728 1/3835
1 c.1033T>A r.(?) p.(Ser345Thr) g.127185153A>T Copied from the Exome Variant Server ACTRT1_000006 153/10563 1/6728 152/3835
1 c.1079C>T r.(?) p.(Ser360Leu) g.127185107G>A Copied from the Exome Variant Server ACTRT1_000005 1/10563 1/6728 0/3835
1 c.1092G>A r.(=) p.(=) g.127185094C>T Copied from the Exome Variant Server ACTRT1_000004 7/10563 0/6728 7/3835
1 c.1108G>C r.(?) p.(Val370Leu) g.127185078C>G Copied from the Exome Variant Server ACTRT1_000003 1/10563 0/6728 1/3835
1 c.*8T>G r.(=) p.(=) g.127185047A>C Copied from the Exome Variant Server ACTRT1_000002 1/10563 1/6728 0/3835
1 c.*37A>C r.(=) p.(=) g.127185018T>G Copied from the Exome Variant Server ACTRT1_000001 1/10563 0/6728 1/3835
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