Unique variants in gene ACE2

Information The variants shown are described using the NM_021804.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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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.55T>C r.(?) p.(Ser19Pro) g.15618980A>G Copied from the Exome Variant Server ACE2_000087 15/10563 0/6728 15/3835
1 c.60C>T r.(=) p.(=) g.15618975G>A Copied from the Exome Variant Server ACE2_000086 1/10563 0/6728 1/3835
1 c.77A>G r.(?) p.(Lys26Arg) g.15618958T>C Copied from the Exome Variant Server ACE2_000085 54/10563 50/6728 4/3835
1 c.102C>T r.(=) p.(=) g.15618933G>A Copied from the Exome Variant Server ACE2_000084 2/10563 2/6728 0/3835
1 c.109G>A r.(?) p.(Glu37Lys) g.15618926C>T Copied from the Exome Variant Server ACE2_000083 3/10563 0/6728 3/3835
1 c.117G>A r.(=) p.(=) g.15618918C>T Copied from the Exome Variant Server ACE2_000082 1/10563 1/6728 0/3835
1 c.198G>A r.(=) p.(=) g.15613115C>T Copied from the Exome Variant Server ACE2_000081 1/10563 0/6728 1/3835
1 c.253C>T r.(=) p.(=) g.15613060G>A Copied from the Exome Variant Server ACE2_000080 1/10563 0/6728 1/3835
1 c.307A>C r.(?) p.(Asn103His) g.15613006T>G Copied from the Exome Variant Server ACE2_000079 3/10563 0/6728 3/3835
1 c.320T>C r.(?) p.(Val107Ala) g.15612993A>G Copied from the Exome Variant Server ACE2_000078 2/10563 0/6728 2/3835
1 c.344G>A r.(?) p.(Arg115Gln) g.15612969C>T Copied from the Exome Variant Server ACE2_000077 1/10563 1/6728 0/3835
1 c.345+4C>T r.spl? p.? g.15612964G>A Copied from the Exome Variant Server ACE2_000076 1/10563 1/6728 0/3835
1 c.345+21G>A r.(=) p.(=) g.15612947C>T Copied from the Exome Variant Server ACE2_000075 1/10563 0/6728 1/3835
1 c.345+46T>G r.(=) p.(=) g.15612922A>C Copied from the Exome Variant Server ACE2_000074 1/10563 1/6728 0/3835
1 c.346-47C>T r.(=) p.(=) g.15610492G>A Copied from the Exome Variant Server ACE2_000073 1/10553 1/6718 0/3835
1 c.439+4G>A r.spl? p.? g.15610348C>T Copied from the Exome Variant Server ACE2_000072 2258/10560 1416/6725 842/3835
1 c.439+24G>A r.(=) p.(=) g.15610328C>T Copied from the Exome Variant Server ACE2_000071 28/10555 26/6722 2/3833
1 c.439+49G>C r.(=) p.(=) g.15610303C>G Copied from the Exome Variant Server ACE2_000070 1/10552 1/6719 0/3833
1 c.584-40T>G r.(=) p.(=) g.15607619A>C Copied from the Exome Variant Server ACE2_000069 1/10563 1/6728 0/3835
1 c.584-8del r.(=) p.(=) g.15607587del Copied from the Exome Variant Server ACE2_000068 198/10203 149/6482 49/3721
1 c.584-8dup r.(=) p.(=) g.15607587dup Copied from the Exome Variant Server ACE2_000067 76/10203 35/6482 41/3721
1 c.584-5_584-2del r.spl? p.? g.15607581_15607584del Copied from the Exome Variant Server ACE2_000066 1/10203 1/6482 0/3721
1 c.617A>G r.(?) p.(Asp206Gly) g.15607546T>C Copied from the Exome Variant Server ACE2_000065 3/10563 2/6728 1/3835
1 c.631G>A r.(?) p.(Gly211Arg) g.15607532C>T Copied from the Exome Variant Server ACE2_000064 14/10563 14/6728 0/3835
1 c.655C>T r.(?) p.(Arg219Cys) g.15607508G>A Copied from the Exome Variant Server ACE2_000063 4/10563 3/6728 1/3835
1 c.696+3A>G r.spl? p.? g.15607464T>C Copied from the Exome Variant Server ACE2_000062 1/10563 0/6728 1/3835
1 c.697-28T>C r.(=) p.(=) g.15606009A>G Copied from the Exome Variant Server ACE2_000061 1/10563 0/6728 1/3835
1 c.802+23C>T r.(=) p.(=) g.15605853G>A Copied from the Exome Variant Server ACE2_000060 2/10563 1/6728 1/3835
1 c.802+24G>A r.(=) p.(=) g.15605852C>T Copied from the Exome Variant Server ACE2_000059 451/10563 1/6728 450/3835
1 c.802+29C>T r.(=) p.(=) g.15605847G>A Copied from the Exome Variant Server ACE2_000058 1/10563 0/6728 1/3835
1 c.933C>G r.(=) p.(=) g.15599481G>C Copied from the Exome Variant Server ACE2_000057 1/10563 0/6728 1/3835
1 c.986A>G r.(?) p.(Glu329Gly) g.15599428T>C Copied from the Exome Variant Server ACE2_000056 2/10563 2/6728 0/3835
1 c.1022A>G r.(?) p.(Lys341Arg) g.15599392T>C Copied from the Exome Variant Server ACE2_000055 18/10563 0/6728 18/3835
1 c.1051C>T r.(=) p.(=) g.15599363G>A Copied from the Exome Variant Server ACE2_000054 26/10563 0/6728 26/3835
1 c.1055G>T r.(?) p.(Gly352Val) g.15599359C>A Copied from the Exome Variant Server ACE2_000053 1/10563 1/6728 0/3835
1 c.1133A>G r.(?) p.(His378Arg) g.15596376T>C Copied from the Exome Variant Server ACE2_000052 2/10563 2/6728 0/3835
1 c.1152A>G r.(=) p.(=) g.15596357T>C Copied from the Exome Variant Server ACE2_000051 1/10563 0/6728 1/3835
1 c.1297+19G>A r.(=) p.(=) g.15596193C>T Copied from the Exome Variant Server ACE2_000050 2/10563 2/6728 0/3835
1 c.1297+26T>A r.(=) p.(=) g.15596186A>T Copied from the Exome Variant Server ACE2_000049 1/10562 0/6728 1/3834
1 c.1297+37T>C r.(=) p.(=) g.15596175A>G Copied from the Exome Variant Server ACE2_000048 1/10561 1/6727 0/3834
1 c.1298-12T>C r.(=) p.(=) g.15593945A>G Copied from the Exome Variant Server ACE2_000047 2/10563 0/6728 2/3835
1 c.1442+9A>G r.(=) p.(=) g.15593780T>C Copied from the Exome Variant Server ACE2_000046 1/10563 1/6728 0/3835
1 c.1503A>G r.(=) p.(=) g.15591528T>C Copied from the Exome Variant Server ACE2_000045 1/10563 1/6728 0/3835
1 c.1542-43G>A r.(=) p.(=) g.15590489C>T Copied from the Exome Variant Server ACE2_000044 1/10563 1/6728 0/3835
1 c.1542-36C>G r.(=) p.(=) g.15590482G>C Copied from the Exome Variant Server ACE2_000043 3/10563 3/6728 0/3835
1 c.1542-33G>A r.(=) p.(=) g.15590479C>T Copied from the Exome Variant Server ACE2_000042 1/10563 1/6728 0/3835
1 c.1542-27T>G r.(=) p.(=) g.15590473A>C Copied from the Exome Variant Server ACE2_000041 2/10563 2/6728 0/3835
1 c.1640C>G r.(?) p.(Ser547Cys) g.15590348G>C Copied from the Exome Variant Server ACE2_000040 1/10563 1/6728 0/3835
1 c.1664+27C>G r.(=) p.(=) g.15590297G>C Copied from the Exome Variant Server ACE2_000039 1/10563 1/6728 0/3835
1 c.1665-23del r.(=) p.(=) g.15589942del Copied from the Exome Variant Server ACE2_000037 1/10201 0/6482 1/3719
1 c.1665-7del r.(=) p.(=) g.15589926del Copied from the Exome Variant Server ACE2_000035 7/10201 0/6482 7/3719
1 c.1688C>T r.(?) p.(Ser563Leu) g.15589896G>A Copied from the Exome Variant Server ACE2_000033 1/10563 1/6728 0/3835
1 c.1745G>A r.(?) p.(Arg582Lys) g.15589839C>T Copied from the Exome Variant Server ACE2_000031 1/10563 1/6728 0/3835
1 c.1746G>T r.(?) p.(Arg582Ser) g.15589838C>A Copied from the Exome Variant Server ACE2_000029 1/10563 0/6728 1/3835
1 c.1778C>A r.(?) p.(Thr593Asn) g.15589806G>T Copied from the Exome Variant Server ACE2_000027 1/10563 0/6728 1/3835
1 c.1783C>G r.(?) p.(Leu595Val) g.15589801G>C Copied from the Exome Variant Server ACE2_000026 2/10563 2/6728 0/3835
1 c.1791C>A r.(?) p.(Asp597Glu) g.15589793G>T Copied from the Exome Variant Server ACE2_000024 3/10563 0/6728 3/3835
1 c.1837+3_1837+6del r.spl? p.? g.15589741_15589744del Copied from the Exome Variant Server ACE2_000021 9/10205 7/6484 2/3721
1 c.1837+8del r.(=) p.(=) g.15589739del Copied from the Exome Variant Server ACE2_000019 26/10205 0/6484 26/3721
1 c.1837+18A>G r.(=) p.(=) g.15589729T>C Copied from the Exome Variant Server ACE2_000017 2/10563 2/6728 0/3835
1 c.1837+22G>C r.(=) p.(=) g.15589725C>G Copied from the Exome Variant Server ACE2_000015 464/10563 3/6728 461/3835
1 c.1837+45C>T r.(=) p.(=) g.15589702G>A Copied from the Exome Variant Server ACE2_000013 67/10563 0/6728 67/3835
1 c.1837+46T>G r.(=) p.(=) g.15589701A>C Copied from the Exome Variant Server ACE2_000012 1/10563 1/6728 0/3835
1 c.1840G>T r.(?) p.(Ala614Ser) g.15588474C>A Copied from the Exome Variant Server ACE2_000011 3/10563 3/6728 0/3835
1 c.1888G>C r.(?) p.(Asp630His) g.15588426C>G Copied from the Exome Variant Server ACE2_000010 1/10563 1/6728 0/3835
1 c.1897-38G>A r.(=) p.(=) g.15585987C>T Copied from the Exome Variant Server ACE2_000009 40/10563 0/6728 40/3835
1 c.1997+23C>G r.(=) p.(=) g.15585826G>C Copied from the Exome Variant Server ACE2_000008 1/10563 1/6728 0/3835
1 c.1997+43T>G r.(=) p.(=) g.15585806A>C Copied from the Exome Variant Server ACE2_000007 1/10563 1/6728 0/3835
1 c.2070T>C r.(=) p.(=) g.15584420A>G Copied from the Exome Variant Server ACE2_000006 239/10563 5/6728 234/3835
1 c.2074T>C r.(?) p.(Ser692Pro) g.15584416A>G Copied from the Exome Variant Server ACE2_000005 19/10563 0/6728 19/3835
1 c.2114+4A>G r.spl? p.? g.15584372T>C Copied from the Exome Variant Server ACE2_000004 1/10563 1/6728 0/3835
1 c.2114+23G>A r.(=) p.(=) g.15584353C>T Copied from the Exome Variant Server ACE2_000003 1/10563 1/6728 0/3835
1 c.2118G>A r.(?) p.(Met706Ile) g.15582338C>T Copied from the Exome Variant Server ACE2_000002 1/10563 1/6728 0/3835
1 c.2129G>A r.(?) p.(Arg710His) g.15582327C>T Copied from the Exome Variant Server ACE2_000001 1/10563 1/6728 0/3835
1 c.2146C>T r.(?) p.(Arg716Cys) g.15582310G>A Copied from the Exome Variant Server ACE2_000038 1/10563 0/6728 1/3835
1 c.2158A>G r.(?) p.(Asn720Asp) g.15582298T>C Copied from the Exome Variant Server ACE2_000036 185/10563 176/6728 9/3835
1 c.2176G>C r.(?) p.(Gly726Arg) g.15582280C>G Copied from the Exome Variant Server ACE2_000034 1/10563 0/6728 1/3835
1 c.2186C>T r.(?) p.(Pro729Leu) g.15582270G>A Copied from the Exome Variant Server ACE2_000032 1/10563 0/6728 1/3835
1 c.2191C>T r.(?) p.(Leu731Phe) g.15582265G>A Copied from the Exome Variant Server ACE2_000030 68/10563 0/6728 68/3835
1 c.2221A>G r.(?) p.(Ile741Val) g.15582235T>C Copied from the Exome Variant Server ACE2_000028 1/10563 1/6728 0/3835
1 c.2247G>A r.(=) p.(=) g.15582209C>T Copied from the Exome Variant Server ACE2_000025 384/10563 345/6728 39/3835
1 c.2302C>T r.(?) p.(Arg768Trp) g.15582154G>A Copied from the Exome Variant Server ACE2_000023 1/10563 0/6728 1/3835
1 c.2310-49G>A r.(=) p.(=) g.15580185C>T Copied from the Exome Variant Server ACE2_000022 1/10554 1/6719 0/3835
1 c.2331A>G r.(=) p.(=) g.15580115T>C Copied from the Exome Variant Server ACE2_000020 1/10563 1/6728 0/3835
1 c.2345C>T r.(?) p.(Ala782Val) g.15580101G>A Copied from the Exome Variant Server ACE2_000018 1/10563 1/6728 0/3835
1 c.2353G>A r.(?) p.(Asp785Asn) g.15580093C>T Copied from the Exome Variant Server ACE2_000016 1/10563 0/6728 1/3835
1 c.*13T>G r.(=) p.(=) g.15580015A>C Copied from the Exome Variant Server ACE2_000014 1/10563 0/6728 1/3835
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