All transcript variants in gene ARHGEF6

Information The variants shown are described using the NM_004840.2 transcript reference sequence.

105 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.79C>T r.(?) p.(Pro27Ser) g.135862963G>A Copied from the Exome Variant Server ARHGEF6_000048 1/10563 0/6728 1/3835
?/? c.166-56A>G r.(=) p.(=) g.135861712T>C Copied from the Exome Variant Server ARHGEF6_000047 3/3600 0/2391 3/1209
?/? c.166-41G>A r.(=) p.(=) g.135861697C>T Copied from the Exome Variant Server ARHGEF6_000046 1/10563 1/6728 0/3835
?/? c.166-38T>C r.(=) p.(=) g.135861694A>G Copied from the Exome Variant Server ARHGEF6_000045 2/10563 2/6728 0/3835
?/? c.166-11T>C r.(=) p.(=) g.135861667A>G Copied from the Exome Variant Server ARHGEF6_000044 18/10563 16/6728 2/3835
?/? c.169T>C r.(?) p.(Cys57Arg) g.135861653A>G Copied from the Exome Variant Server ARHGEF6_000043 29/10563 0/6728 29/3835
?/? c.220C>T r.(=) p.(=) g.135861602G>A Copied from the Exome Variant Server ARHGEF6_000042 1/10563 0/6728 1/3835
?/? c.250-35T>C r.(=) p.(=) g.135829786A>G Copied from the Exome Variant Server ARHGEF6_000041 1/10563 1/6728 0/3835
?/? c.250-25C>T r.(=) p.(=) g.135829776G>A Copied from the Exome Variant Server ARHGEF6_000040 108/10563 1/6728 107/3835
?/? c.262G>C r.(?) p.(Asp88His) g.135829739C>G Copied from the Exome Variant Server ARHGEF6_000039 3/10563 2/6728 1/3835
?/? c.267C>T r.(=) p.(=) g.135829734G>A Copied from the Exome Variant Server ARHGEF6_000038 1/10563 1/6728 0/3835
?/? c.284A>G r.(?) p.(Asn95Ser) g.135829717T>C Copied from the Exome Variant Server ARHGEF6_000037 4/10563 4/6728 0/3835
?/? c.334+7C>T r.(=) p.(=) g.135829660G>A Copied from the Exome Variant Server ARHGEF6_000036 32/10563 2/6728 30/3835
?/? c.334+50T>C r.(=) p.(=) g.135829617A>G Copied from the Exome Variant Server ARHGEF6_000035 11/10563 0/6728 11/3835
?/? c.362G>A r.(?) p.(Arg121His) g.135827479C>T Copied from the Exome Variant Server ARHGEF6_000034 33/10563 32/6728 1/3835
?/? c.459+13C>T r.(=) p.(=) g.135827369G>A Copied from the Exome Variant Server ARHGEF6_000033 1/10563 0/6728 1/3835
?/? c.459+26C>T r.(=) p.(=) g.135827356G>A Copied from the Exome Variant Server ARHGEF6_000032 2/10563 2/6728 0/3835
?/? c.460-16G>A r.(=) p.(=) g.135825961C>T Copied from the Exome Variant Server ARHGEF6_000031 74/10563 1/6728 73/3835
?/? c.467C>T r.(?) p.(Thr156Met) g.135825938G>A Copied from the Exome Variant Server ARHGEF6_000030 2/10563 1/6728 1/3835
?/? c.540A>G r.(=) p.(=) g.135825865T>C Copied from the Exome Variant Server ARHGEF6_000029 8/10563 8/6728 0/3835
?/? c.647A>G r.(?) p.(Glu216Gly) g.135825758T>C Copied from the Exome Variant Server ARHGEF6_000028 2/10563 2/6728 0/3835
?/? c.662-6_662-5insT r.spl? p.? g.135814336_135814337insA Copied from the Exome Variant Server ARHGEF6_000027 7/10199 4/6478 3/3721
?/? c.685G>A r.(?) p.(Val229Ile) g.135814308C>T Copied from the Exome Variant Server ARHGEF6_000026 18/10563 5/6728 13/3835
?/? c.714C>G r.(=) p.(=) g.135814279G>C Copied from the Exome Variant Server ARHGEF6_000069 1/10563 1/6728 0/3835
?/? c.719A>G r.(?) p.(Asn240Ser) g.135814274T>C Copied from the Exome Variant Server ARHGEF6_000068 1/10563 1/6728 0/3835
?/? c.732+42A>G r.(=) p.(=) g.135814219T>C Copied from the Exome Variant Server ARHGEF6_000067 2/10520 0/6694 2/3826
?/? c.733-20A>G r.(=) p.(=) g.135795549T>C Copied from the Exome Variant Server ARHGEF6_000066 1/10561 1/6726 0/3835
?/? c.733-7_733-6insT r.(=) p.(=) g.135795535_135795536insA Copied from the Exome Variant Server ARHGEF6_000065 2/10202 0/6481 2/3721
?/? c.828-45del r.(=) p.(=) g.135790974del Copied from the Exome Variant Server ARHGEF6_000064 1/10205 1/6484 0/3721
?/? c.828-39C>G r.(=) p.(=) g.135790968G>C Copied from the Exome Variant Server ARHGEF6_000063 1/10563 0/6728 1/3835
?/? c.828-36C>T r.(=) p.(=) g.135790965G>A Copied from the Exome Variant Server ARHGEF6_000099 1/10563 0/6728 1/3835
?/? c.828-34A>G r.(=) p.(=) g.135790963T>C Copied from the Exome Variant Server ARHGEF6_000098 56/10563 2/6728 54/3835
?/? c.828-30A>G r.(=) p.(=) g.135790959T>C Copied from the Exome Variant Server ARHGEF6_000097 1/10563 0/6728 1/3835
?/? c.828-11T>G r.(=) p.(=) g.135790940A>C Copied from the Exome Variant Server ARHGEF6_000096 1/10563 1/6728 0/3835
?/? c.828-4_828-3insT r.spl? p.? g.135790932_135790933insA Copied from the Exome Variant Server ARHGEF6_000095 30/10205 22/6484 8/3721
?/? c.828-3C>T r.spl? p.? g.135790932G>A Copied from the Exome Variant Server ARHGEF6_000094 1/10563 0/6728 1/3835
?/? c.833G>A r.(?) p.(Ser278Asn) g.135790924C>T Copied from the Exome Variant Server ARHGEF6_000105 1/10563 1/6728 0/3835
?/? c.891G>T r.(?) p.(Gln297His) g.135790866C>A Copied from the Exome Variant Server ARHGEF6_000104 109/10563 1/6728 108/3835
?/? c.942C>T r.(=) p.(=) g.135789171G>A Copied from the Exome Variant Server ARHGEF6_000103 1/10563 1/6728 0/3835
?/? c.981T>C r.(=) p.(=) g.135789132A>G Copied from the Exome Variant Server ARHGEF6_000102 1/10563 0/6728 1/3835
?/? c.1046+15T>C r.(=) p.(=) g.135789052A>G Copied from the Exome Variant Server ARHGEF6_000101 1/10563 1/6728 0/3835
?/? c.1059A>G r.(=) p.(=) g.135772895T>C Copied from the Exome Variant Server ARHGEF6_000100 1/10563 1/6728 0/3835
?/? c.1085C>T r.(?) p.(Ser362Leu) g.135772869G>A Copied from the Exome Variant Server ARHGEF6_000093 1/10563 0/6728 1/3835
?/? c.1112C>A r.(?) p.(Thr371Lys) g.135772842G>T Copied from the Exome Variant Server ARHGEF6_000092 1/10563 0/6728 1/3835
?/? c.1149T>C r.(=) p.(=) g.135772805A>G Copied from the Exome Variant Server ARHGEF6_000091 2/10563 2/6728 0/3835
?/? c.1185+23A>C r.(=) p.(=) g.135772746T>G Copied from the Exome Variant Server ARHGEF6_000090 2/10563 1/6728 1/3835
?/? c.1185+35C>T r.(=) p.(=) g.135772734G>A Copied from the Exome Variant Server ARHGEF6_000089 8/10563 0/6728 8/3835
?/? c.1186-66_1186-59del r.(=) p.(=) g.135770209_135770216del Copied from the Exome Variant Server ARHGEF6_000088 1/10205 1/6484 0/3721
?/? c.1186-45A>T r.(=) p.(=) g.135770195T>A Copied from the Exome Variant Server ARHGEF6_000087 2/10563 2/6728 0/3835
?/? c.1246-6C>T r.(=) p.(=) g.135767988G>A Copied from the Exome Variant Server ARHGEF6_000025 2/10563 0/6728 2/3835
?/? c.1246-5T>C r.spl? p.? g.135767987A>G Copied from the Exome Variant Server ARHGEF6_000024 1/10563 1/6728 0/3835
?/? c.1253G>A r.(?) p.(Cys418Tyr) g.135767975C>T Copied from the Exome Variant Server ARHGEF6_000023 1/10563 1/6728 0/3835
?/? c.1341G>T r.(?) p.(Leu447Phe) g.135767887C>A Copied from the Exome Variant Server ARHGEF6_000022 1/10563 0/6728 1/3835
?/? c.1369A>G r.(?) p.(Met457Val) g.135767859T>C Copied from the Exome Variant Server ARHGEF6_000021 11/10563 0/6728 11/3835
?/? c.1392+41C>T r.(=) p.(=) g.135767795G>A Copied from the Exome Variant Server ARHGEF6_000020 2/10563 2/6728 0/3835
?/? c.1393-13C>A r.(=) p.(=) g.135765016G>T Copied from the Exome Variant Server ARHGEF6_000019 1/10563 0/6728 1/3835
?/? c.1393-8C>T r.(=) p.(=) g.135765011G>A Copied from the Exome Variant Server ARHGEF6_000018 2/10563 0/6728 2/3835
?/? c.1405C>T r.(?) p.(Arg469Trp) g.135764991G>A Copied from the Exome Variant Server ARHGEF6_000017 1/10563 0/6728 1/3835
?/? c.1479+29C>T r.(=) p.(=) g.135764888G>A Copied from the Exome Variant Server ARHGEF6_000016 1/10563 1/6728 0/3835
?/? c.1479+42G>A r.(=) p.(=) g.135764875C>T Copied from the Exome Variant Server ARHGEF6_000015 1/10563 0/6728 1/3835
?/? c.1480-3T>C r.spl? p.? g.135764130A>G Copied from the Exome Variant Server ARHGEF6_000014 70/10563 3/6728 67/3835
?/? c.1502C>T r.(?) p.(Thr501Met) g.135764105G>A Copied from the Exome Variant Server ARHGEF6_000013 14/10561 0/6728 14/3833
?/? c.1558+20_1558+21insT r.(=) p.(=) g.135764028_135764029insA Copied from the Exome Variant Server ARHGEF6_000012 1/10203 1/6484 0/3719
?/? c.1558+22A>G r.(=) p.(=) g.135764027T>C Copied from the Exome Variant Server ARHGEF6_000011 26/10561 0/6728 26/3833
?/? c.1570G>C r.(?) p.(Glu524Gln) g.135763024C>G Copied from the Exome Variant Server ARHGEF6_000010 4/10563 0/6728 4/3835
?/? c.1587T>C r.(=) p.(=) g.135763007A>G Copied from the Exome Variant Server ARHGEF6_000009 2/10563 0/6728 2/3835
?/? c.1653C>T r.(=) p.(=) g.135762941G>A Copied from the Exome Variant Server ARHGEF6_000008 1/10563 1/6728 0/3835
?/? c.1683G>A r.(=) p.(=) g.135762911C>T Copied from the Exome Variant Server ARHGEF6_000007 3/10563 0/6728 3/3835
?/? c.1704+3A>G r.spl? p.? g.135762887T>C Copied from the Exome Variant Server ARHGEF6_000006 1/10563 0/6728 1/3835
?/? c.1704+46C>A r.(=) p.(=) g.135762844G>T Copied from the Exome Variant Server ARHGEF6_000005 1/10563 1/6728 0/3835
?/? c.1705-46G>A r.(=) p.(=) g.135761865C>T Copied from the Exome Variant Server ARHGEF6_000004 1/10561 1/6726 0/3835
?/? c.1719C>T r.(=) p.(=) g.135761805G>A Copied from the Exome Variant Server ARHGEF6_000003 12/10563 1/6728 11/3835
?/? c.1764G>A r.(=) p.(=) g.135761760C>T Copied from the Exome Variant Server ARHGEF6_000002 12/10563 1/6728 11/3835
?/? c.1830+9G>T r.(=) p.(=) g.135761685C>A Copied from the Exome Variant Server ARHGEF6_000001 1/10563 1/6728 0/3835
?/? c.1830+39G>A r.(=) p.(=) g.135761655C>T Copied from the Exome Variant Server ARHGEF6_000086 5/10563 5/6728 0/3835
?/? c.1830+41T>C r.(=) p.(=) g.135761653A>G Copied from the Exome Variant Server ARHGEF6_000085 7/10563 0/6728 7/3835
?/? c.1830+47C>T r.(=) p.(=) g.135761647G>A Copied from the Exome Variant Server ARHGEF6_000084 1/10563 0/6728 1/3835
?/? c.1831-47A>G r.(=) p.(=) g.135760162T>C Copied from the Exome Variant Server ARHGEF6_000083 6/10559 6/6724 0/3835
?/? c.1851+30A>G r.(=) p.(=) g.135760065T>C Copied from the Exome Variant Server ARHGEF6_000082 1/10561 0/6726 1/3835
?/? c.1851+36A>G r.(=) p.(=) g.135760059T>C Copied from the Exome Variant Server ARHGEF6_000081 1/10561 0/6726 1/3835
?/? c.1851+47G>A r.(=) p.(=) g.135760048C>T Copied from the Exome Variant Server ARHGEF6_000080 1/10561 1/6726 0/3835
?/? c.1851+56C>T r.(=) p.(=) g.135760039G>A Copied from the Exome Variant Server ARHGEF6_000079 25/3597 1/2388 24/1209
?/? c.1943A>G r.(?) p.(Lys648Arg) g.135758785T>C Copied from the Exome Variant Server ARHGEF6_000078 1/10556 0/6723 1/3833
?/? c.1946-38T>C r.(=) p.(=) g.135757293A>G Copied from the Exome Variant Server ARHGEF6_000077 82/10563 0/6728 82/3835
?/? c.1989C>T r.(=) p.(=) g.135757212G>A Copied from the Exome Variant Server ARHGEF6_000076 1/10563 0/6728 1/3835
?/? c.2007C>T r.(=) p.(=) g.135757194G>A Copied from the Exome Variant Server ARHGEF6_000075 331/10563 2/6728 329/3835
?/? c.2035+37G>A r.(=) p.(=) g.135757129C>T Copied from the Exome Variant Server ARHGEF6_000074 1/10563 1/6728 0/3835
?/? c.2036-30C>A r.(=) p.(=) g.135754308G>T Copied from the Exome Variant Server ARHGEF6_000073 1/10563 1/6728 0/3835
?/? c.2056C>A r.(?) p.(Pro686Thr) g.135754258G>T Copied from the Exome Variant Server ARHGEF6_000072 1/10563 1/6728 0/3835
?/? c.2135+4A>G r.spl? p.? g.135754175T>C Copied from the Exome Variant Server ARHGEF6_000071 1/10563 0/6728 1/3835
?/? c.2147A>C r.(?) p.(Asp716Ala) g.135751684T>G Copied from the Exome Variant Server ARHGEF6_000070 1/10563 1/6728 0/3835
?/? c.2157C>T r.(=) p.(=) g.135751674G>A Copied from the Exome Variant Server ARHGEF6_000062 1/10563 1/6728 0/3835
?/? c.2158G>T r.(?) p.(Ala720Ser) g.135751673C>A Copied from the Exome Variant Server ARHGEF6_000061 1/10563 1/6728 0/3835
?/? c.2190+19A>G r.(=) p.(=) g.135751622T>C Copied from the Exome Variant Server ARHGEF6_000060 1/10563 0/6728 1/3835
?/? c.2190+35G>C r.(=) p.(=) g.135751606C>G Copied from the Exome Variant Server ARHGEF6_000059 1/10563 0/6728 1/3835
?/? c.2190+60C>T r.(=) p.(=) g.135751581G>A Copied from the Exome Variant Server ARHGEF6_000058 6/3600 6/2391 0/1209
?/? c.2191-45G>C r.(=) p.(=) g.135750373C>G Copied from the Exome Variant Server ARHGEF6_000057 10/10563 10/6728 0/3835
?/? c.2191-36del r.(=) p.(=) g.135750364del Copied from the Exome Variant Server ARHGEF6_000056 1/10205 0/6484 1/3721
?/? c.2191-7A>G r.(=) p.(=) g.135750335T>C Copied from the Exome Variant Server ARHGEF6_000055 1/10563 0/6728 1/3835
?/? c.2215C>A r.(?) p.(Leu739Met) g.135750304G>T Copied from the Exome Variant Server ARHGEF6_000054 10/10563 0/6728 10/3835
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