Unique variants in gene ARSE

Information The variants shown are described using the NM_000047.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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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.-20-69_-20-66del r.(=) p.(=) g.2878527_2878530del Copied from the Exome Variant Server ARSE_000100 2/10202 1/6481 1/3721
1 c.-20-25T>C r.(=) p.(=) g.2878486A>G Copied from the Exome Variant Server ARSE_000099 1/10562 1/6727 0/3835
1 c.-20-13T>G r.(=) p.(=) g.2878474A>C Copied from the Exome Variant Server ARSE_000098 3/10562 0/6727 3/3835
1 c.-12G>C r.(=) p.(=) g.2878453C>G Copied from the Exome Variant Server ARSE_000097 2/10561 2/6726 0/3835
1 c.-8_-7del r.(=) p.(=) g.2878448_2878449del Copied from the Exome Variant Server ARSE_000096 1/10203 1/6482 0/3721
1 c.-6G>C r.(=) p.(=) g.2878447C>G Copied from the Exome Variant Server ARSE_000095 1/10561 1/6726 0/3835
1 c.-8_-5del r.(=) p.(=) g.2878446_2878449del Copied from the Exome Variant Server ARSE_000094 228/10203 1/6482 227/3721
1 c.15C>G r.(?) p.(His5Gln) g.2878427G>C Copied from the Exome Variant Server ARSE_000093 1/10562 0/6727 1/3835
1 c.23+1G>C r.spl? p.? g.2878418C>G Copied from the Exome Variant Server ARSE_000092 1/10562 1/6727 0/3835
1 c.23+5G>C r.spl? p.? g.2878414C>G Copied from the Exome Variant Server ARSE_000091 3/10562 3/6727 0/3835
1 c.23+18G>T r.(=) p.(=) g.2878401C>A Copied from the Exome Variant Server ARSE_000090 1/10562 1/6727 0/3835
1 c.23+37T>C r.(=) p.(=) g.2878382A>G Copied from the Exome Variant Server ARSE_000089 1/10561 0/6726 1/3835
1 c.23+53_23+54insTTCTTTCT r.(=) p.(=) g.2878365_2878366insAGAAAGAA Copied from the Exome Variant Server ARSE_000088 377/10202 11/6481 366/3721
1 c.23+54_23+57del r.(=) p.(=) g.2878362_2878365del Copied from the Exome Variant Server ARSE_000087 122/10202 91/6481 31/3721
1 c.23+54_23+57dup r.(=) p.(=) g.2878362_2878365dup Copied from the Exome Variant Server ARSE_000086 321/10202 14/6481 307/3721
1 c.23+63T>C r.(=) p.(=) g.2878356A>G Copied from the Exome Variant Server ARSE_000085 3/3598 3/2389 0/1209
1 c.24-26C>T r.(=) p.(=) g.2876502G>A Copied from the Exome Variant Server ARSE_000084 214/10563 29/6728 185/3835
1 c.24-15C>T r.(=) p.(=) g.2876491G>A Copied from the Exome Variant Server ARSE_000083 1/10563 1/6728 0/3835
1 c.51G>A r.(=) p.(=) g.2876449C>T Copied from the Exome Variant Server ARSE_000082 1/10563 0/6728 1/3835
1 c.58G>A r.(?) p.(Ala20Thr) g.2876442C>T Copied from the Exome Variant Server ARSE_000081 1/10563 1/6728 0/3835
1 c.78A>G r.(=) p.(=) g.2876422T>C Copied from the Exome Variant Server ARSE_000080 844/10563 2/6728 842/3835
1 c.102C>T r.(=) p.(=) g.2876398G>A Copied from the Exome Variant Server ARSE_000079 1/10563 1/6728 0/3835
1 c.103G>A r.(?) p.(Ala35Thr) g.2876397C>T Copied from the Exome Variant Server ARSE_000078 19/10563 2/6728 17/3835
1 c.110G>A r.(?) p.(Arg37Gln) g.2876390C>T Copied from the Exome Variant Server ARSE_000077 2/10563 0/6728 2/3835
1 c.114G>A r.(=) p.(=) g.2876386C>T Copied from the Exome Variant Server ARSE_000076 11/10563 0/6728 11/3835
1 c.135G>A r.(=) p.(=) g.2876365C>T Copied from the Exome Variant Server ARSE_000075 1/10563 0/6728 1/3835
1 c.152G>A r.(?) p.(Gly51Glu) g.2876348C>T Copied from the Exome Variant Server ARSE_000074 1/10563 0/6728 1/3835
1 c.157A>G r.(?) p.(Ile53Val) g.2876343T>C Copied from the Exome Variant Server ARSE_000073 380/10563 1/6728 379/3835
1 c.171C>T r.(=) p.(=) g.2876329G>A Copied from the Exome Variant Server ARSE_000072 1/10563 0/6728 1/3835
1 c.185+36A>G r.(=) p.(=) g.2876279T>C Copied from the Exome Variant Server ARSE_000071 3/10563 3/6728 0/3835
1 c.186-10C>A r.(=) p.(=) g.2873588G>T Copied from the Exome Variant Server ARSE_000070 1/10563 0/6728 1/3835
1 c.195T>C r.(=) p.(=) g.2873569A>G Copied from the Exome Variant Server ARSE_000069 1/10563 0/6728 1/3835
1 c.220G>A r.(?) p.(Val74Met) g.2873544C>T Copied from the Exome Variant Server ARSE_000068 2/10563 0/6728 2/3835
1 c.280C>T r.(?) p.(Leu94Phe) g.2873484G>A Copied from the Exome Variant Server ARSE_000067 2/10563 2/6728 0/3835
1 c.307+9C>G r.(=) p.(=) g.2873448G>C Copied from the Exome Variant Server ARSE_000066 3/10563 1/6728 2/3835
1 c.307+27G>A r.(=) p.(=) g.2873430C>T Copied from the Exome Variant Server ARSE_000065 1/10563 0/6728 1/3835
1 c.308-38G>A r.(=) p.(=) g.2871344C>T Copied from the Exome Variant Server ARSE_000064 1/10563 0/6728 1/3835
1 c.324T>C r.(=) p.(=) g.2871290A>G Copied from the Exome Variant Server ARSE_000063 1/10563 1/6728 0/3835
1 c.337C>T r.(?) p.(Leu113Phe) g.2871277G>A Copied from the Exome Variant Server ARSE_000062 1/10563 0/6728 1/3835
1 c.410G>C r.(?) p.(Gly137Ala) g.2871204C>G Copied from the Exome Variant Server ARSE_000061 1/10563 1/6728 0/3835
1 c.430+8C>T r.(=) p.(=) g.2871176G>A Copied from the Exome Variant Server ARSE_000060 43/10563 29/6728 14/3835
1 c.431-50T>C r.(=) p.(=) g.2867818A>G Copied from the Exome Variant Server ARSE_000059 24/10560 0/6725 24/3835
1 c.467G>A r.(?) p.(Ser156Asn) g.2867732C>T Copied from the Exome Variant Server ARSE_000058 3/10563 3/6728 0/3835
1 c.495T>C r.(=) p.(=) g.2867704A>G Copied from the Exome Variant Server ARSE_000057 145/10563 134/6728 11/3835
1 c.512A>G r.(?) p.(Tyr171Cys) g.2867687T>C Copied from the Exome Variant Server ARSE_000056 1/10563 1/6728 0/3835
1 c.513C>T r.(=) p.(=) g.2867686G>A Copied from the Exome Variant Server ARSE_000055 1/10563 0/6728 1/3835
1 c.544G>A r.(?) p.(Ala182Thr) g.2867655C>T Copied from the Exome Variant Server ARSE_000054 1/10563 1/6728 0/3835
1 c.548G>A r.(?) p.(Arg183His) g.2867651C>T Copied from the Exome Variant Server ARSE_000053 169/10563 20/6728 149/3835
1 c.549C>T r.(=) p.(=) g.2867650G>A Copied from the Exome Variant Server ARSE_000052 426/10563 10/6728 416/3835
1 c.664G>A r.(?) p.(Val222Ile) g.2867535C>T Copied from the Exome Variant Server ARSE_000051 1/10563 0/6728 1/3835
1 c.677C>T r.(?) p.(Pro226Leu) g.2867522G>A Copied from the Exome Variant Server ARSE_000050 3/10563 0/6728 3/3835
1 c.702C>T r.(=) p.(=) g.2867497G>A Copied from the Exome Variant Server ARSE_000049 1/10563 0/6728 1/3835
1 c.714C>T r.(=) p.(=) g.2867485G>A Copied from the Exome Variant Server ARSE_000048 5/10563 0/6728 5/3835
1 c.715G>A r.(?) p.(Ala239Thr) g.2867484C>T Copied from the Exome Variant Server ARSE_000047 1/10563 1/6728 0/3835
1 c.750T>A r.(?) p.(His250Gln) g.2867449A>T Copied from the Exome Variant Server ARSE_000046 1/10563 1/6728 0/3835
1 c.752C>T r.(?) p.(Ala251Val) g.2867447G>A Copied from the Exome Variant Server ARSE_000045 1/10563 0/6728 1/3835
1 c.783C>T r.(=) p.(=) g.2867416G>A Copied from the Exome Variant Server ARSE_000044 1/10563 1/6728 0/3835
1 c.786G>A r.(=) p.(=) g.2867413C>T Copied from the Exome Variant Server ARSE_000043 591/10563 527/6728 64/3835
1 c.854+18A>G r.(=) p.(=) g.2867327T>C Copied from the Exome Variant Server ARSE_000042 3/10563 2/6728 1/3835
1 c.854+33C>T r.(=) p.(=) g.2867312G>A Copied from the Exome Variant Server ARSE_000041 2/10563 2/6728 0/3835
1 c.854+35C>T r.(=) p.(=) g.2867310G>A Copied from the Exome Variant Server ARSE_000040 4/10563 0/6728 4/3835
1 c.855-15C>T r.(=) p.(=) g.2864190G>A Copied from the Exome Variant Server ARSE_000039 21/10563 0/6728 21/3835
1 c.897C>T r.(=) p.(=) g.2864133G>A Copied from the Exome Variant Server ARSE_000038 6/10563 1/6728 5/3835
1 c.933C>T r.(=) p.(=) g.2864097G>A Copied from the Exome Variant Server ARSE_000037 2/10563 1/6728 1/3835
1 c.966C>T r.(=) p.(=) g.2864064G>A Copied from the Exome Variant Server ARSE_000036 1/10563 0/6728 1/3835
1 c.987G>A r.(?) p.(Met329Ile) g.2864043C>T Copied from the Exome Variant Server ARSE_000035 2/10563 2/6728 0/3835
1 c.991+38C>T r.(=) p.(=) g.2864001G>A Copied from the Exome Variant Server ARSE_000034 1/10563 1/6728 0/3835
1 c.992-30G>A r.(=) p.(=) g.2861270C>T Copied from the Exome Variant Server ARSE_000033 2/10563 2/6728 0/3835
1 c.992-28C>T r.(=) p.(=) g.2861268G>A Copied from the Exome Variant Server ARSE_000032 1/10563 0/6728 1/3835
1 c.992-25C>G r.(=) p.(=) g.2861265G>C Copied from the Exome Variant Server ARSE_000031 1/10563 1/6728 0/3835
1 c.994C>A r.(=) p.(=) g.2861238G>T Copied from the Exome Variant Server ARSE_000030 1/10563 1/6728 0/3835
1 c.1034G>A r.(?) p.(Ser345Asn) g.2861198C>T Copied from the Exome Variant Server ARSE_000029 1/10563 0/6728 1/3835
1 c.1062C>T r.(=) p.(=) g.2861170G>A Copied from the Exome Variant Server ARSE_000028 1/10563 1/6728 0/3835
1 c.1065C>A r.(=) p.(=) g.2861167G>T Copied from the Exome Variant Server ARSE_000027 1/10563 1/6728 0/3835
1 c.1066G>A r.(?) p.(Gly356Ser) g.2861166C>T Copied from the Exome Variant Server ARSE_000026 1/10563 1/6728 0/3835
1 c.1127-48T>C r.(=) p.(=) g.2856346A>G Copied from the Exome Variant Server ARSE_000025 14/10471 0/6668 14/3803
1 c.1164C>T r.(=) p.(=) g.2856261G>A Copied from the Exome Variant Server ARSE_000024 1/10561 1/6727 0/3834
1 c.1189G>A r.(?) p.(Gly397Arg) g.2856236C>T Copied from the Exome Variant Server ARSE_000023 5/10555 5/6724 0/3831
1 c.1199C>T r.(?) p.(Pro400Leu) g.2856226G>A Copied from the Exome Variant Server ARSE_000022 1/10558 1/6726 0/3832
1 c.1227G>A r.(=) p.(=) g.2856198C>T Copied from the Exome Variant Server ARSE_000021 1/10560 0/6725 1/3835
1 c.1239C>T r.(=) p.(=) g.2856186G>A Copied from the Exome Variant Server ARSE_000020 1/10558 1/6725 0/3833
1 c.1259G>A r.(?) p.(Arg420Gln) g.2856166C>T Copied from the Exome Variant Server ARSE_000019 3/10559 3/6726 0/3833
1 c.1270G>A r.(?) p.(Gly424Ser) g.2856155C>T Copied from the Exome Variant Server ARSE_000018 5191/10546 4504/6715 687/3831
1 c.1289+9C>T r.(=) p.(=) g.2856127G>A Copied from the Exome Variant Server ARSE_000017 15/10553 0/6723 15/3830
1 c.1290-45G>A r.(=) p.(=) g.2854949C>T Copied from the Exome Variant Server ARSE_000016 174/10563 13/6728 161/3835
1 c.1290-28C>A r.(=) p.(=) g.2854932G>T Copied from the Exome Variant Server ARSE_000015 1/10563 1/6728 0/3835
1 c.1406G>A r.(?) p.(Arg469Gln) g.2854788C>T Copied from the Exome Variant Server ARSE_000014 2/10563 0/6728 2/3835
1 c.1408G>C r.(?) p.(Asp470His) g.2854786C>G Copied from the Exome Variant Server ARSE_000013 15/10563 0/6728 15/3835
1 c.1411+6T>C r.(=) p.(=) g.2854777A>G Copied from the Exome Variant Server ARSE_000012 1/10563 1/6728 0/3835
1 c.1411+33G>T r.(=) p.(=) g.2854750C>A Copied from the Exome Variant Server ARSE_000011 6/10563 0/6728 6/3835
1 c.1412-52C>T r.(=) p.(=) g.2853283G>A Copied from the Exome Variant Server ARSE_000010 324/6021 300/3606 24/2415
1 c.1418C>A r.(?) p.(Thr473Lys) g.2853225G>T Copied from the Exome Variant Server ARSE_000009 3/10563 0/6728 3/3835
1 c.1480G>A r.(?) p.(Gly494Arg) g.2853163C>T Copied from the Exome Variant Server ARSE_000008 1/10563 1/6728 0/3835
1 c.1497G>A r.(=) p.(=) g.2853146C>T Copied from the Exome Variant Server ARSE_000007 1/10563 0/6728 1/3835
1 c.1568C>G r.(?) p.(Thr523Ser) g.2853075G>C Copied from the Exome Variant Server ARSE_000006 1/10559 0/6724 1/3835
1 c.1597G>A r.(?) p.(Val533Met) g.2853046C>T Copied from the Exome Variant Server ARSE_000005 2/10563 2/6728 0/3835
1 c.1625A>G r.(?) p.(Gln542Arg) g.2853018T>C Copied from the Exome Variant Server ARSE_000004 2/10563 0/6728 2/3835
1 c.1692C>T r.(=) p.(=) g.2852951G>A Copied from the Exome Variant Server ARSE_000003 4836/10557 4170/6722 666/3835
1 c.1694T>G r.(?) p.(Ile565Ser) g.2852949A>C Copied from the Exome Variant Server ARSE_000002 12/10561 10/6726 2/3835
1 c.1728G>A r.(=) p.(=) g.2852915C>T Copied from the Exome Variant Server ARSE_000001 657/10560 605/6725 52/3835
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