All transcript variants in gene ARHGAP28

Information The variants shown are described using the NM_001010000.2 transcript reference sequence.

160 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.-64C>A r.(=) p.(=) g.6837284C>A Copied from the Exome Variant Server ARHGAP28_000001 1/4566 0/3182 1/1384
?/? c.-50G>A r.(=) p.(=) g.6837298G>A Copied from the Exome Variant Server ARHGAP28_000002 1/13006 0/8600 1/4406
?/? c.-46C>G r.(=) p.(=) g.6837302C>G Copied from the Exome Variant Server ARHGAP28_000003 8/13006 7/8600 1/4406
?/? c.-25G>A r.(=) p.(=) g.6837323G>A Copied from the Exome Variant Server ARHGAP28_000004 2/13006 0/8600 2/4406
?/? c.4A>G r.(?) p.(Arg2Gly) g.6837351A>G Copied from the Exome Variant Server ARHGAP28_000005 1/13006 1/8600 0/4406
?/? c.4_5insG r.(?) p.(Lys3Glufs*4) g.6837351_6837352insG Copied from the Exome Variant Server ARHGAP28_000006 3/12518 3/8254 0/4264
?/? c.24T>G r.(=) p.(=) g.6837371T>G Copied from the Exome Variant Server ARHGAP28_000007 2/13006 0/8600 2/4406
?/? c.27C>G r.(?) p.(Ile9Met) g.6837374C>G Copied from the Exome Variant Server ARHGAP28_000008 1/13006 0/8600 1/4406
?/? c.45T>C r.(=) p.(=) g.6837392T>C Copied from the Exome Variant Server ARHGAP28_000009 12/13006 0/8600 12/4406
?/? c.66+33G>A r.(=) p.(=) g.6837446G>A Copied from the Exome Variant Server ARHGAP28_000010 4394/13006 3940/8600 454/4406
?/? c.67-37A>G r.(=) p.(=) g.6850996A>G Copied from the Exome Variant Server ARHGAP28_000011 1/13006 0/8600 1/4406
?/? c.67-23G>A r.(=) p.(=) g.6851010G>A Copied from the Exome Variant Server ARHGAP28_000012 2/13006 1/8600 1/4406
?/? c.71G>A r.(?) p.(Arg24His) g.6851037G>A Copied from the Exome Variant Server ARHGAP28_000013 1/13006 0/8600 1/4406
?/? c.92C>G r.(?) p.(Thr31Ser) g.6851058C>G Copied from the Exome Variant Server ARHGAP28_000014 61/13006 16/8600 45/4406
?/? c.103G>A r.(?) p.(Asp35Asn) g.6851069G>A Copied from the Exome Variant Server ARHGAP28_000015 3/13006 3/8600 0/4406
?/? c.124G>A r.(?) p.(Glu42Lys) g.6851090G>A Copied from the Exome Variant Server ARHGAP28_000016 1/13006 0/8600 1/4406
?/? c.127C>A r.(?) p.(Leu43Ile) g.6851093C>A Copied from the Exome Variant Server ARHGAP28_000017 1/13006 1/8600 0/4406
?/? c.159+34A>T r.(=) p.(=) g.6851159A>T Copied from the Exome Variant Server ARHGAP28_000018 1/13006 0/8600 1/4406
?/? c.199G>A r.(?) p.(Ala67Thr) g.6859846G>A Copied from the Exome Variant Server ARHGAP28_000019 2/13006 2/8600 0/4406
?/? c.228G>A r.(=) p.(=) g.6859875G>A Copied from the Exome Variant Server ARHGAP28_000021 1/13006 0/8600 1/4406
?/? c.241G>C r.(?) p.(Asp81His) g.6859888G>C Copied from the Exome Variant Server ARHGAP28_000023 1/13006 0/8600 1/4406
?/? c.249+44G>T r.(=) p.(=) g.6859940G>T Copied from the Exome Variant Server ARHGAP28_000025 1/13006 1/8600 0/4406
?/? c.250-23G>T r.(=) p.(=) g.6868126G>T Copied from the Exome Variant Server ARHGAP28_000027 1/13006 0/8600 1/4406
?/? c.256C>G r.(?) p.(Leu86Val) g.6868155C>G Copied from the Exome Variant Server ARHGAP28_000029 8/13006 8/8600 0/4406
?/? c.261G>C r.(?) p.(Glu87Asp) g.6868160G>C Copied from the Exome Variant Server ARHGAP28_000031 1/13006 1/8600 0/4406
?/? c.277C>A r.(?) p.(Pro93Thr) g.6868176C>A Copied from the Exome Variant Server ARHGAP28_000020 1/13006 1/8600 0/4406
?/? c.313C>A r.(?) p.(Pro105Thr) g.6868212C>A Copied from the Exome Variant Server ARHGAP28_000022 1/13006 1/8600 0/4406
?/? c.326C>T r.(?) p.(Ala109Val) g.6868225C>T Copied from the Exome Variant Server ARHGAP28_000024 3/13006 0/8600 3/4406
?/? c.334+7G>A r.(=) p.(=) g.6868240G>A Copied from the Exome Variant Server ARHGAP28_000026 1/13006 0/8600 1/4406
?/? c.334+43G>A r.(=) p.(=) g.6868276G>A Copied from the Exome Variant Server ARHGAP28_000028 5/13006 0/8600 5/4406
?/? c.335-50A>G r.(=) p.(=) g.6870539A>G Copied from the Exome Variant Server ARHGAP28_000030 1/12948 1/8574 0/4374
?/? c.335-26G>A r.(=) p.(=) g.6870563G>A Copied from the Exome Variant Server ARHGAP28_000032 1/12988 0/8590 1/4398
?/? c.335-17C>A r.(=) p.(=) g.6870572C>A Copied from the Exome Variant Server ARHGAP28_000033 1/12998 0/8594 1/4404
?/? c.335-11T>C r.(=) p.(=) g.6870578T>C Copied from the Exome Variant Server ARHGAP28_000034 13/13002 0/8596 13/4406
?/? c.335-4T>C r.spl? p.? g.6870585T>C Copied from the Exome Variant Server ARHGAP28_000035 335/13002 3/8596 332/4406
?/? c.370G>A r.(?) p.(Ala124Thr) g.6870624G>A Copied from the Exome Variant Server ARHGAP28_000036 1/13002 1/8596 0/4406
?/? c.377A>G r.(?) p.(Glu126Gly) g.6870631A>G Copied from the Exome Variant Server ARHGAP28_000037 1/13004 0/8598 1/4406
?/? c.387T>C r.(=) p.(=) g.6870641T>C Copied from the Exome Variant Server ARHGAP28_000038 2/13002 0/8596 2/4406
?/? c.399T>C r.(=) p.(=) g.6870653T>C Copied from the Exome Variant Server ARHGAP28_000039 1/13002 1/8596 0/4406
?/? c.414G>A r.(=) p.(=) g.6870668G>A Copied from the Exome Variant Server ARHGAP28_000040 2/13004 0/8598 2/4406
?/? c.415G>A r.(?) p.(Glu139Lys) g.6870669G>A Copied from the Exome Variant Server ARHGAP28_000041 1/13004 1/8598 0/4406
?/? c.417G>A r.(=) p.(=) g.6870671G>A Copied from the Exome Variant Server ARHGAP28_000042 3/13006 0/8600 3/4406
?/? c.459A>G r.(=) p.(=) g.6870713A>G Copied from the Exome Variant Server ARHGAP28_000043 1/13006 0/8600 1/4406
?/? c.463G>C r.(?) p.(Asp155His) g.6870717G>C Copied from the Exome Variant Server ARHGAP28_000044 1/13004 1/8598 0/4406
?/? c.465C>G r.(?) p.(Asp155Glu) g.6870719C>G Copied from the Exome Variant Server ARHGAP28_000045 2/13004 1/8598 1/4406
?/? c.477+5G>A r.spl? p.? g.6870736G>A Copied from the Exome Variant Server ARHGAP28_000046 1/13002 1/8596 0/4406
?/? c.477+48T>C r.(=) p.(=) g.6870779T>C Copied from the Exome Variant Server ARHGAP28_000047 268/12962 2/8574 266/4388
?/? c.485A>G r.(?) p.(Asn162Ser) g.6873415A>G Copied from the Exome Variant Server ARHGAP28_000048 1/13006 0/8600 1/4406
?/? c.576G>A r.(=) p.(=) g.6873506G>A Copied from the Exome Variant Server ARHGAP28_000049 1/13006 1/8600 0/4406
?/? c.643+36C>T r.(=) p.(=) g.6873609C>T Copied from the Exome Variant Server ARHGAP28_000050 34/13004 0/8600 34/4404
?/? c.643+49G>A r.(=) p.(=) g.6873622G>A Copied from the Exome Variant Server ARHGAP28_000051 7/13002 7/8600 0/4402
?/? c.644-48C>G r.(=) p.(=) g.6873635C>G Copied from the Exome Variant Server ARHGAP28_000052 1/12998 0/8600 1/4398
?/? c.644-39T>G r.(=) p.(=) g.6873644T>G Copied from the Exome Variant Server ARHGAP28_000053 1/12994 1/8598 0/4396
?/? c.644-36_644-34del r.(=) p.(=) g.6873647_6873649del Copied from the Exome Variant Server ARHGAP28_000054 13/12488 9/8246 4/4242
?/? c.644-35_644-34del r.(=) p.(=) g.6873648_6873649del Copied from the Exome Variant Server ARHGAP28_000055 82/12488 40/8246 42/4242
?/? c.644-34del r.(=) p.(=) g.6873649del Copied from the Exome Variant Server ARHGAP28_000057 1183/12488 572/8246 611/4242
?/? c.644-34dup r.(=) p.(=) g.6873649dup Copied from the Exome Variant Server ARHGAP28_000056 229/12488 151/8246 78/4242
?/? c.644-16C>G r.(=) p.(=) g.6873667C>G Copied from the Exome Variant Server ARHGAP28_000058 1/13006 1/8600 0/4406
?/? c.644-14G>A r.(=) p.(=) g.6873669G>A Copied from the Exome Variant Server ARHGAP28_000059 6/13006 2/8600 4/4406
?/? c.644-3A>G r.spl? p.? g.6873680A>G Copied from the Exome Variant Server ARHGAP28_000060 2/13006 2/8600 0/4406
?/? c.644-1G>A r.spl? p.? g.6873682G>A Copied from the Exome Variant Server ARHGAP28_000061 1/13006 1/8600 0/4406
?/? c.665C>T r.(?) p.(Pro222Leu) g.6873704C>T Copied from the Exome Variant Server ARHGAP28_000062 1/13006 1/8600 0/4406
?/? c.687T>A r.(=) p.(=) g.6873726T>A Copied from the Exome Variant Server ARHGAP28_000063 131/13006 2/8600 129/4406
?/? c.691C>T r.(?) p.(Arg231*) g.6873730C>T Copied from the Exome Variant Server ARHGAP28_000064 1/13006 0/8600 1/4406
?/? c.711G>C r.(=) p.(=) g.6873750G>C Copied from the Exome Variant Server ARHGAP28_000065 1/13006 0/8600 1/4406
?/? c.715G>C r.(?) p.(Val239Leu) g.6873754G>C Copied from the Exome Variant Server ARHGAP28_000066 1/13006 1/8600 0/4406
?/? c.735+13C>T r.(=) p.(=) g.6873787C>T Copied from the Exome Variant Server ARHGAP28_000067 1/13006 1/8600 0/4406
?/? c.754G>A r.(?) p.(Glu252Lys) g.6876148G>A Copied from the Exome Variant Server ARHGAP28_000068 1/13006 1/8600 0/4406
?/? c.808G>C r.(?) p.(Val270Leu) g.6876202G>C Copied from the Exome Variant Server ARHGAP28_000069 1/13006 1/8600 0/4406
?/? c.813+5C>T r.spl? p.? g.6876212C>T Copied from the Exome Variant Server ARHGAP28_000070 1/13006 0/8600 1/4406
?/? c.814-36G>A r.(=) p.(=) g.6882100G>A Copied from the Exome Variant Server ARHGAP28_000071 58/13006 0/8600 58/4406
?/? c.814-27A>G r.(=) p.(=) g.6882109A>G Copied from the Exome Variant Server ARHGAP28_000072 26/13006 0/8600 26/4406
?/? c.814-18G>A r.(=) p.(=) g.6882118G>A Copied from the Exome Variant Server ARHGAP28_000073 1/13006 1/8600 0/4406
?/? c.814-8A>G r.(=) p.(=) g.6882128A>G Copied from the Exome Variant Server ARHGAP28_000074 10/13006 0/8600 10/4406
?/? c.821G>A r.(?) p.(Arg274His) g.6882143G>A Copied from the Exome Variant Server ARHGAP28_000075 2/13006 1/8600 1/4406
?/? c.898T>C r.(=) p.(=) g.6882220T>C Copied from the Exome Variant Server ARHGAP28_000076 2/13006 0/8600 2/4406
?/? c.903A>G r.(=) p.(=) g.6882225A>G Copied from the Exome Variant Server ARHGAP28_000077 8/13006 1/8600 7/4406
?/? c.906G>A r.(=) p.(=) g.6882228G>A Copied from the Exome Variant Server ARHGAP28_000078 62/13006 2/8600 60/4406
?/? c.927C>T r.(=) p.(=) g.6882249C>T Copied from the Exome Variant Server ARHGAP28_000079 3/13006 2/8600 1/4406
?/? c.936C>T r.(=) p.(=) g.6882258C>T Copied from the Exome Variant Server ARHGAP28_000080 1/13006 0/8600 1/4406
?/? c.939T>C r.(=) p.(=) g.6882261T>C Copied from the Exome Variant Server ARHGAP28_000081 1/13006 0/8600 1/4406
?/? c.966T>C r.(=) p.(=) g.6882288T>C Copied from the Exome Variant Server ARHGAP28_000082 1/13006 0/8600 1/4406
?/? c.976+14G>A r.(=) p.(=) g.6882312G>A Copied from the Exome Variant Server ARHGAP28_000083 222/13006 8/8600 214/4406
?/? c.976+26T>C r.(=) p.(=) g.6882324T>C Copied from the Exome Variant Server ARHGAP28_000084 60/13006 0/8600 60/4406
?/? c.976+29G>A r.(=) p.(=) g.6882327G>A Copied from the Exome Variant Server ARHGAP28_000085 4/13006 4/8600 0/4406
?/? c.977-29A>G r.(=) p.(=) g.6887127A>G Copied from the Exome Variant Server ARHGAP28_000086 22/13006 0/8600 22/4406
?/? c.981G>A r.(=) p.(=) g.6887160G>A Copied from the Exome Variant Server ARHGAP28_000087 1/13006 1/8600 0/4406
?/? c.1044C>T r.(=) p.(=) g.6887223C>T Copied from the Exome Variant Server ARHGAP28_000088 1/13006 1/8600 0/4406
?/? c.1048G>A r.(?) p.(Asp350Asn) g.6887227G>A Copied from the Exome Variant Server ARHGAP28_000089 1/13006 0/8600 1/4406
?/? c.1059+5G>A r.spl? p.? g.6887243G>A Copied from the Exome Variant Server ARHGAP28_000090 3/13006 2/8600 1/4406
?/? c.1059+7C>T r.(=) p.(=) g.6887245C>T Copied from the Exome Variant Server ARHGAP28_000091 2/13006 0/8600 2/4406
?/? c.1059+9T>G r.(=) p.(=) g.6887247T>G Copied from the Exome Variant Server ARHGAP28_000092 1/13006 1/8600 0/4406
?/? c.1059+23C>G r.(=) p.(=) g.6887261C>G Copied from the Exome Variant Server ARHGAP28_000093 1/13006 1/8600 0/4406
?/? c.1060-48C>T r.(=) p.(=) g.6889839C>T Copied from the Exome Variant Server ARHGAP28_000094 1/13006 0/8600 1/4406
?/? c.1060-35G>A r.(=) p.(=) g.6889852G>A Copied from the Exome Variant Server ARHGAP28_000095 1/13006 0/8600 1/4406
?/? c.1060-29T>C r.(=) p.(=) g.6889858T>C Copied from the Exome Variant Server ARHGAP28_000096 16/13006 0/8600 16/4406
?/? c.1060-18A>G r.(=) p.(=) g.6889869A>G Copied from the Exome Variant Server ARHGAP28_000097 1/13006 0/8600 1/4406
?/? c.1061C>T r.(?) p.(Ala354Val) g.6889888C>T Copied from the Exome Variant Server ARHGAP28_000098 1/13006 1/8600 0/4406
?/? c.1092C>A r.(=) p.(=) g.6889919C>A Copied from the Exome Variant Server ARHGAP28_000099 1/13006 1/8600 0/4406
?/? c.1146A>G r.(=) p.(=) g.6889973A>G Copied from the Exome Variant Server ARHGAP28_000100 7422/13006 4919/8600 2503/4406
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