All transcript variants in gene ARHGAP12

Information The variants shown are described using the NM_001270695.1 transcript reference sequence.

134 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-34T>C r.(=) p.(=) g.32197817A>G Copied from the Exome Variant Server ARHGAP12_000133 2/13000 2/8596 0/4404
?/? c.-28A>T r.(=) p.(=) g.32197811T>A Copied from the Exome Variant Server ARHGAP12_000132 1/13002 0/8598 1/4404
?/? c.-5A>G r.(=) p.(=) g.32197788T>C Copied from the Exome Variant Server ARHGAP12_000131 2/13002 2/8598 0/4404
?/? c.16A>C r.(=) p.(=) g.32197768T>G Copied from the Exome Variant Server ARHGAP12_000130 65/13004 60/8600 5/4404
?/? c.24G>A r.(=) p.(=) g.32197760C>T Copied from the Exome Variant Server ARHGAP12_000129 33/13004 27/8600 6/4404
?/? c.97G>C r.(?) p.(Val33Leu) g.32197687C>G Copied from the Exome Variant Server ARHGAP12_000128 1/13006 0/8600 1/4406
?/? c.182C>T r.(?) p.(Ala61Val) g.32197602G>A Copied from the Exome Variant Server ARHGAP12_000127 4/13006 0/8600 4/4406
?/? c.220C>T r.(?) p.(Arg74Cys) g.32197564G>A Copied from the Exome Variant Server ARHGAP12_000126 1/13006 0/8600 1/4406
?/? c.221G>C r.(?) p.(Arg74Pro) g.32197563C>G Copied from the Exome Variant Server ARHGAP12_000125 1/13006 0/8600 1/4406
?/? c.236C>T r.(?) p.(Pro79Leu) g.32197548G>A Copied from the Exome Variant Server ARHGAP12_000124 1/13006 1/8600 0/4406
?/? c.238C>T r.(?) p.(Pro80Ser) g.32197546G>A Copied from the Exome Variant Server ARHGAP12_000123 1/13006 1/8600 0/4406
?/? c.265A>G r.(?) p.(Asn89Asp) g.32197519T>C Copied from the Exome Variant Server ARHGAP12_000122 1/13006 0/8600 1/4406
?/? c.310A>G r.(?) p.(Thr104Ala) g.32197474T>C Copied from the Exome Variant Server ARHGAP12_000121 1/13006 0/8600 1/4406
?/? c.348C>T r.(=) p.(=) g.32197436G>A Copied from the Exome Variant Server ARHGAP12_000120 1/13006 1/8600 0/4406
?/? c.370C>G r.(?) p.(Gln124Glu) g.32197414G>C Copied from the Exome Variant Server ARHGAP12_000119 1/13006 0/8600 1/4406
?/? c.388C>T r.(?) p.(Arg130Cys) g.32197396G>A Copied from the Exome Variant Server ARHGAP12_000118 2/13006 2/8600 0/4406
?/? c.434C>A r.(?) p.(Thr145Asn) g.32197350G>T Copied from the Exome Variant Server ARHGAP12_000117 1/13006 1/8600 0/4406
?/? c.454C>T r.(=) p.(=) g.32197330G>A Copied from the Exome Variant Server ARHGAP12_000116 8/13006 7/8600 1/4406
?/? c.486C>T r.(=) p.(=) g.32197298G>A Copied from the Exome Variant Server ARHGAP12_000115 6/13006 6/8600 0/4406
?/? c.542C>A r.(?) p.(Pro181His) g.32197242G>T Copied from the Exome Variant Server ARHGAP12_000114 1/13006 1/8600 0/4406
?/? c.575G>T r.(?) p.(Ser192Ile) g.32197209C>A Copied from the Exome Variant Server ARHGAP12_000113 1/13006 0/8600 1/4406
?/? c.590A>G r.(?) p.(Gln197Arg) g.32197194T>C Copied from the Exome Variant Server ARHGAP12_000112 2/13006 2/8600 0/4406
?/? c.624A>G r.(=) p.(=) g.32197160T>C Copied from the Exome Variant Server ARHGAP12_000111 14/13006 13/8600 1/4406
?/? c.628C>T r.(?) p.(His210Tyr) g.32197156G>A Copied from the Exome Variant Server ARHGAP12_000110 1/13006 1/8600 0/4406
?/? c.673G>C r.(?) p.(Glu225Gln) g.32197111C>G Copied from the Exome Variant Server ARHGAP12_000109 1/13006 0/8600 1/4406
?/? c.681A>C r.(=) p.(=) g.32197103T>G Copied from the Exome Variant Server ARHGAP12_000108 790/13006 7/8600 783/4406
?/? c.684+51T>C r.(=) p.(=) g.32197049A>G Copied from the Exome Variant Server ARHGAP12_000107 1/12986 1/8594 0/4392
?/? c.711G>A r.(=) p.(=) g.32150560C>T Copied from the Exome Variant Server ARHGAP12_000106 1/13006 0/8600 1/4406
?/? c.726C>G r.(=) p.(=) g.32150545G>C Copied from the Exome Variant Server ARHGAP12_000105 54/13006 0/8600 54/4406
?/? c.772C>G r.(?) p.(Pro258Ala) g.32150499G>C Copied from the Exome Variant Server ARHGAP12_000104 1/13006 1/8600 0/4406
?/? c.804T>C r.(=) p.(=) g.32150467A>G Copied from the Exome Variant Server ARHGAP12_000103 1/13006 1/8600 0/4406
?/? c.866A>G r.(?) p.(Gln289Arg) g.32150405T>C Copied from the Exome Variant Server ARHGAP12_000134 1/13006 1/8600 0/4406
?/? c.876T>C r.(=) p.(=) g.32150395A>G Copied from the Exome Variant Server ARHGAP12_000100 12/13006 0/8600 12/4406
?/? c.918A>G r.(=) p.(=) g.32150353T>C Copied from the Exome Variant Server ARHGAP12_000098 1/13006 1/8600 0/4406
?/? c.948+48T>C r.(=) p.(=) g.32150275A>G Copied from the Exome Variant Server ARHGAP12_000102 3/13006 3/8600 0/4406
?/? c.1039T>C r.(=) p.(=) g.32143044A>G Copied from the Exome Variant Server ARHGAP12_000101 243/13006 212/8600 31/4406
?/? c.1048C>T r.(?) p.(Arg350Cys) g.32143035G>A Copied from the Exome Variant Server ARHGAP12_000099 2/13006 1/8600 1/4406
?/? c.1066A>G r.(?) p.(Thr356Ala) g.32143017T>C Copied from the Exome Variant Server ARHGAP12_000097 1/13006 1/8600 0/4406
?/? c.1137A>G r.(=) p.(=) g.32141478T>C Copied from the Exome Variant Server ARHGAP12_000096 1/13006 1/8600 0/4406
?/? c.1155A>G r.(=) p.(=) g.32141460T>C Copied from the Exome Variant Server ARHGAP12_000095 2197/13006 1826/8600 371/4406
?/? c.1170+1G>A r.spl? p.? g.32141444C>T Copied from the Exome Variant Server ARHGAP12_000094 1/13006 0/8600 1/4406
?/? c.1170+18C>T r.(=) p.(=) g.32141427G>A Copied from the Exome Variant Server ARHGAP12_000093 5/13006 0/8600 5/4406
?/? c.1171-47A>G r.(=) p.(=) g.32132561T>C Copied from the Exome Variant Server ARHGAP12_000092 1/12996 0/8596 1/4400
?/? c.1205T>C r.(?) p.(Ile402Thr) g.32132480A>G Copied from the Exome Variant Server ARHGAP12_000091 1/13006 1/8600 0/4406
?/? c.1228C>T r.(?) p.(Arg410Trp) g.32132457G>A Copied from the Exome Variant Server ARHGAP12_000090 1/13006 1/8600 0/4406
?/? c.1254A>G r.(=) p.(=) g.32132431T>C Copied from the Exome Variant Server ARHGAP12_000089 1/13002 0/8600 1/4402
?/? c.1291G>A r.(?) p.(Asp431Asn) g.32132394C>T Copied from the Exome Variant Server ARHGAP12_000088 1/13006 0/8600 1/4406
?/? c.1296+3A>G r.spl? p.? g.32132386T>C Copied from the Exome Variant Server ARHGAP12_000087 30/13006 4/8600 26/4406
?/? c.1296+20T>C r.(=) p.(=) g.32132369A>G Copied from the Exome Variant Server ARHGAP12_000086 2/13006 0/8600 2/4406
?/? c.1297-4G>A r.spl? p.? g.32128643C>T Copied from the Exome Variant Server ARHGAP12_000085 3/13006 3/8600 0/4406
?/? c.1319C>T r.(?) p.(Pro440Leu) g.32128617G>A Copied from the Exome Variant Server ARHGAP12_000084 1/13006 1/8600 0/4406
?/? c.1325T>C r.(?) p.(Phe442Ser) g.32128611A>G Copied from the Exome Variant Server ARHGAP12_000083 2195/13006 1824/8600 371/4406
?/? c.1348T>A r.(?) p.(Ser450Thr) g.32128588A>T Copied from the Exome Variant Server ARHGAP12_000082 1/13006 1/8600 0/4406
?/? c.1359G>T r.(?) p.(Lys453Asn) g.32128577C>A Copied from the Exome Variant Server ARHGAP12_000081 84/13006 0/8600 84/4406
?/? c.1371+281A>G r.(=) p.(=) g.32128284T>C Copied from the Exome Variant Server ARHGAP12_000080 1/13006 1/8600 0/4406
?/? c.1371+291A>G r.(=) p.(=) g.32128274T>C Copied from the Exome Variant Server ARHGAP12_000079 1/13006 1/8600 0/4406
?/? c.1371+319C>T r.(=) p.(=) g.32128246G>A Copied from the Exome Variant Server ARHGAP12_000078 3/13006 2/8600 1/4406
?/? c.1371+348C>T r.(=) p.(=) g.32128217G>A Copied from the Exome Variant Server ARHGAP12_000077 1/13006 1/8600 0/4406
?/? c.1372-62G>A r.(=) p.(=) g.32120790C>T Copied from the Exome Variant Server ARHGAP12_000075 241/4558 3/3174 238/1384
?/? c.1372-28G>A r.(=) p.(=) g.32120756C>T Copied from the Exome Variant Server ARHGAP12_000074 1/12980 0/8584 1/4396
?/? c.1422G>A r.(=) p.(=) g.32120678C>T Copied from the Exome Variant Server ARHGAP12_000073 2223/12996 1747/8596 476/4400
?/? c.1432C>T r.(?) p.(Arg478*) g.32120668G>A Copied from the Exome Variant Server ARHGAP12_000072 1/12994 0/8596 1/4398
?/? c.1433+53del r.(=) p.(=) g.32120614del Copied from the Exome Variant Server ARHGAP12_000071 10/12422 8/8198 2/4224
?/? c.1433+53_1433+55del r.(=) p.(=) g.32120612_32120614del Copied from the Exome Variant Server ARHGAP12_000070 7/12422 5/8198 2/4224
?/? c.1434-34T>C r.(=) p.(=) g.32115347A>G Copied from the Exome Variant Server ARHGAP12_000069 365/13006 5/8600 360/4406
?/? c.1515+55C>T r.(=) p.(=) g.32115177G>A Copied from the Exome Variant Server ARHGAP12_000068 7/4566 0/3182 7/1384
?/? c.1516-36T>C r.(=) p.(=) g.32109452A>G Copied from the Exome Variant Server ARHGAP12_000067 1/13004 1/8600 0/4404
?/? c.1516-29A>T r.(=) p.(=) g.32109445T>A Copied from the Exome Variant Server ARHGAP12_000066 1/13006 1/8600 0/4406
?/? c.1516-18_1516-17insT r.(=) p.(=) g.32109433_32109434insA Copied from the Exome Variant Server ARHGAP12_000065 11/12518 5/8254 6/4264
?/? c.1516-17C>T r.(=) p.(=) g.32109433G>A Copied from the Exome Variant Server ARHGAP12_000064 3/13006 1/8600 2/4406
?/? c.1525A>C r.(?) p.(Asn509His) g.32109407T>G Copied from the Exome Variant Server ARHGAP12_000063 1/13006 1/8600 0/4406
?/? c.1589A>G r.(?) p.(Asp530Gly) g.32109343T>C Copied from the Exome Variant Server ARHGAP12_000062 2/13006 0/8600 2/4406
?/? c.1617+38T>C r.(=) p.(=) g.32109277A>G Copied from the Exome Variant Server ARHGAP12_000061 82/13004 0/8600 82/4404
?/? c.1617+44A>G r.(=) p.(=) g.32109271T>C Copied from the Exome Variant Server ARHGAP12_000060 6/13002 0/8598 6/4404
?/? c.1617+48G>A r.(=) p.(=) g.32109267C>T Copied from the Exome Variant Server ARHGAP12_000059 12/12996 1/8592 11/4404
?/? c.1618-50T>C r.(=) p.(=) g.32106864A>G Copied from the Exome Variant Server ARHGAP12_000058 1/13004 1/8598 0/4406
?/? c.1618-37T>C r.(=) p.(=) g.32106851A>G Copied from the Exome Variant Server ARHGAP12_000057 6882/13004 4341/8598 2541/4406
?/? c.1618-12T>C r.(=) p.(=) g.32106826A>G Copied from the Exome Variant Server ARHGAP12_000056 1/13006 0/8600 1/4406
?/? c.1628G>A r.(?) p.(Arg543His) g.32106804C>T Copied from the Exome Variant Server ARHGAP12_000055 1/13004 1/8600 0/4404
?/? c.1648A>G r.(?) p.(Ile550Val) g.32106784T>C Copied from the Exome Variant Server ARHGAP12_000053 1/13002 0/8598 1/4404
?/? c.1661A>G r.(?) p.(Asn554Ser) g.32106771T>C Copied from the Exome Variant Server ARHGAP12_000051 2/13002 1/8598 1/4404
?/? c.1668T>C r.(=) p.(=) g.32106764A>G Copied from the Exome Variant Server ARHGAP12_000049 9/13002 0/8598 9/4404
?/? c.1705A>G r.(?) p.(Ile569Val) g.32106727T>C Copied from the Exome Variant Server ARHGAP12_000054 1/13006 1/8600 0/4406
?/? c.1716+8G>T r.(=) p.(=) g.32106708C>A Copied from the Exome Variant Server ARHGAP12_000052 772/13004 7/8600 765/4404
?/? c.1716+27T>A r.(=) p.(=) g.32106689A>T Copied from the Exome Variant Server ARHGAP12_000050 1/13002 0/8600 1/4402
?/? c.1716+46C>A r.(=) p.(=) g.32106670G>T Copied from the Exome Variant Server ARHGAP12_000048 1/12992 1/8592 0/4400
?/? c.1717-29T>C r.(=) p.(=) g.32103318A>G Copied from the Exome Variant Server ARHGAP12_000046 1/13004 0/8598 1/4406
?/? c.1717-10T>C r.(=) p.(=) g.32103299A>G Copied from the Exome Variant Server ARHGAP12_000045 1/13002 1/8598 0/4404
?/? c.1754C>T r.(?) p.(Pro585Leu) g.32103252G>A Copied from the Exome Variant Server ARHGAP12_000044 1/13006 0/8600 1/4406
?/? c.1755G>A r.(=) p.(=) g.32103251C>T Copied from the Exome Variant Server ARHGAP12_000043 28/13006 0/8600 28/4406
?/? c.1766G>T r.(?) p.(Gly589Val) g.32103240C>A Copied from the Exome Variant Server ARHGAP12_000042 1/13006 0/8600 1/4406
?/? c.1815T>G r.(=) p.(=) g.32103191A>C Copied from the Exome Variant Server ARHGAP12_000041 775/13006 7/8600 768/4406
?/? c.1817G>A r.(?) p.(Arg606His) g.32103189C>T Copied from the Exome Variant Server ARHGAP12_000040 2/13006 2/8600 0/4406
?/? c.1820-44_1820-43insA r.(=) p.(=) g.32101794_32101795insT Copied from the Exome Variant Server ARHGAP12_000039 4/12468 2/8238 2/4230
?/? c.1820-2A>C r.spl? p.? g.32101753T>G Copied from the Exome Variant Server ARHGAP12_000038 1/13000 1/8600 0/4400
?/? c.1862C>A r.(?) p.(Thr621Asn) g.32101709G>T Copied from the Exome Variant Server ARHGAP12_000037 2/13004 0/8600 2/4404
?/? c.1892G>A r.(?) p.(Arg631Gln) g.32101679C>T Copied from the Exome Variant Server ARHGAP12_000036 2/13004 2/8600 0/4404
?/? c.1899C>T r.(=) p.(=) g.32101672G>A Copied from the Exome Variant Server ARHGAP12_000035 1/13004 0/8600 1/4404
?/? c.1903T>G r.(?) p.(Leu635Val) g.32101668A>C Copied from the Exome Variant Server ARHGAP12_000034 1/13004 1/8600 0/4404
?/? c.1936+9_1936+11del r.(=) p.(=) g.32101624_32101626del Copied from the Exome Variant Server ARHGAP12_000033 24/12518 18/8254 6/4264
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