Full data view for gene ARHGEF9

Information The variants shown are described using the NM_001173479.1 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.30+30707del r.(=) p.(=) g.62974289del Copied from the Exome Variant Server ARHGEF9_000059 1095/10199 778/6482 317/3717 - - - - - - -
?/? c.30+30707dup r.(=) p.(=) g.62974289dup Copied from the Exome Variant Server ARHGEF9_000058 1132/10199 516/6482 616/3717 - - - - - - -
?/? c.30+30753A>G r.(=) p.(=) g.62974243T>C Copied from the Exome Variant Server ARHGEF9_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.30+30763del r.(=) p.(=) g.62974233del Copied from the Exome Variant Server ARHGEF9_000056 2/10205 0/6484 2/3721 - - - - - - -
?/? c.30+30817_30+30818del r.(=) p.(=) g.62974178_62974179del Copied from the Exome Variant Server ARHGEF9_000054 1/10205 1/6484 0/3721 - - - - - - -
?/? c.30+30822C>A r.(=) p.(=) g.62974174G>T Copied from the Exome Variant Server ARHGEF9_000052 3/10563 0/6728 3/3835 - - - - - - -
?/? c.31-18305G>A r.(=) p.(=) g.62944634C>T Copied from the Exome Variant Server ARHGEF9_000050 15/10563 14/6728 1/3835 - - - - - - -
?/? c.31-18244A>G r.(=) p.(=) g.62944573T>C Copied from the Exome Variant Server ARHGEF9_000048 18/10563 0/6728 18/3835 - - - - - - -
?/? c.31-18121G>T r.(=) p.(=) g.62944450C>A Copied from the Exome Variant Server ARHGEF9_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.31-23T>A r.(=) p.(=) g.62926352A>T Copied from the Exome Variant Server ARHGEF9_000055 1/10559 1/6726 0/3833 - - - - - - -
?/? c.74A>T r.(?) p.(Asp25Val) g.62926286T>A Copied from the Exome Variant Server ARHGEF9_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.81G>T r.(?) p.(Gln27His) g.62926279C>A Copied from the Exome Variant Server ARHGEF9_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.90C>T r.(=) p.(=) g.62926270G>A Copied from the Exome Variant Server ARHGEF9_000049 1/10562 1/6727 0/3835 - - - - - - -
?/? c.140G>A r.(?) p.(Arg47Gln) g.62926220C>T Copied from the Exome Variant Server ARHGEF9_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.192C>T r.(=) p.(=) g.62926168G>A Copied from the Exome Variant Server ARHGEF9_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.201G>A r.(=) p.(=) g.62926159C>T Copied from the Exome Variant Server ARHGEF9_000044 2/10563 0/6728 2/3835 - - - - - - -
?/? c.222+7A>T r.(=) p.(=) g.62926131T>A Copied from the Exome Variant Server ARHGEF9_000043 1/10560 0/6727 1/3833 - - - - - - -
?/? c.222+34C>T r.(=) p.(=) g.62926104G>A Copied from the Exome Variant Server ARHGEF9_000042 1/10545 0/6720 1/3825 - - - - - - -
?/? c.223-39C>A r.(=) p.(=) g.62917223G>T Copied from the Exome Variant Server ARHGEF9_000041 1/10561 0/6726 1/3835 - - - - - - -
?/? c.223-17T>C r.(=) p.(=) g.62917201A>G Copied from the Exome Variant Server ARHGEF9_000040 1/10561 0/6726 1/3835 - - - - - - -
?/? c.399G>A r.(=) p.(=) g.62917008C>T Copied from the Exome Variant Server ARHGEF9_000039 1/10562 0/6727 1/3835 - - - - - - -
?/? c.402C>T r.(=) p.(=) g.62917005G>A Copied from the Exome Variant Server ARHGEF9_000038 1/10562 0/6727 1/3835 - - - - - - -
?/? c.403-8_403-7insT r.(=) p.(=) g.62898459_62898460insA Copied from the Exome Variant Server ARHGEF9_000037 1/10201 0/6480 1/3721 - - - - - - -
?/? c.495G>A r.(=) p.(=) g.62898360C>T Copied from the Exome Variant Server ARHGEF9_000036 4/10563 4/6728 0/3835 - - - - - - -
?/? c.567A>G r.(=) p.(=) g.62898288T>C Copied from the Exome Variant Server ARHGEF9_000035 1/10562 1/6727 0/3835 - - - - - - -
?/? c.635+15G>T r.(=) p.(=) g.62898205C>A Copied from the Exome Variant Server ARHGEF9_000034 1/10557 0/6723 1/3834 - - - - - - -
?/? c.635+37C>T r.(=) p.(=) g.62898183G>A Copied from the Exome Variant Server ARHGEF9_000033 1/10532 1/6705 0/3827 - - - - - - -
?/? c.636-30G>A r.(=) p.(=) g.62894077C>T Copied from the Exome Variant Server ARHGEF9_000032 12/10563 0/6728 12/3835 - - - - - - -
?/? c.636-23C>T r.(=) p.(=) g.62894070G>A Copied from the Exome Variant Server ARHGEF9_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.62893987G>A Copied from the Exome Variant Server ARHGEF9_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.705G>A r.(=) p.(=) g.62893978C>T Copied from the Exome Variant Server ARHGEF9_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.759C>G r.(?) p.(Asp253Glu) g.62893924G>C Copied from the Exome Variant Server ARHGEF9_000028 6/10563 5/6728 1/3835 - - - - - - -
?/? c.765+21G>T r.(=) p.(=) g.62893897C>A Copied from the Exome Variant Server ARHGEF9_000026 21/10563 0/6728 21/3835 - - - - - - -
?/? c.765+28G>A r.(=) p.(=) g.62893890C>T Copied from the Exome Variant Server ARHGEF9_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.766-28G>T r.(=) p.(=) g.62885925C>A Copied from the Exome Variant Server ARHGEF9_000027 6/10563 6/6728 0/3835 - - - - - - -
?/? c.766-18A>G r.(=) p.(=) g.62885915T>C Copied from the Exome Variant Server ARHGEF9_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.766-4C>A r.spl? p.? g.62885901G>T Copied from the Exome Variant Server ARHGEF9_000023 3/10563 3/6728 0/3835 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.62885895G>A Copied from the Exome Variant Server ARHGEF9_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.876C>T r.(=) p.(=) g.62885787G>A Copied from the Exome Variant Server ARHGEF9_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.897+27G>A r.(=) p.(=) g.62885739C>T Copied from the Exome Variant Server ARHGEF9_000020 1/10562 1/6727 0/3835 - - - - - - -
?/? c.898-43C>T r.(=) p.(=) g.62875660G>A Copied from the Exome Variant Server ARHGEF9_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.898-42G>A r.(=) p.(=) g.62875659C>T Copied from the Exome Variant Server ARHGEF9_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.898-39G>A r.(=) p.(=) g.62875656C>T Copied from the Exome Variant Server ARHGEF9_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.898-30C>T r.(=) p.(=) g.62875647G>A Copied from the Exome Variant Server ARHGEF9_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.898-16_898-15del r.(=) p.(=) g.62875632_62875633del Copied from the Exome Variant Server ARHGEF9_000015 1/10203 0/6482 1/3721 - - - - - - -
?/? c.933C>T r.(=) p.(=) g.62875582G>A Copied from the Exome Variant Server ARHGEF9_000014 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1045A>G r.(?) p.(Ile349Val) g.62875470T>C Copied from the Exome Variant Server ARHGEF9_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1141+26G>T r.(=) p.(=) g.62875348C>A Copied from the Exome Variant Server ARHGEF9_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1142-49T>G r.(=) p.(=) g.62863977A>C Copied from the Exome Variant Server ARHGEF9_000011 434/10559 49/6725 385/3834 - - - - - - -
?/? c.1142-40G>T r.(=) p.(=) g.62863968C>A Copied from the Exome Variant Server ARHGEF9_000010 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1150A>G r.(?) p.(Ile384Val) g.62863920T>C Copied from the Exome Variant Server ARHGEF9_000009 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1211-42C>T r.(=) p.(=) g.62858131G>A Copied from the Exome Variant Server ARHGEF9_000008 2/10294 0/6540 2/3754 - - - - - - -
?/? c.1211-41A>G r.(=) p.(=) g.62858130T>C Copied from the Exome Variant Server ARHGEF9_000007 1/10311 1/6552 0/3759 - - - - - - -
?/? c.1253C>T r.(?) p.(Pro418Leu) g.62858047G>A Copied from the Exome Variant Server ARHGEF9_000006 1/10562 0/6728 1/3834 - - - - - - -
?/? c.1285G>C r.(?) p.(Val429Leu) g.62858015C>G Copied from the Exome Variant Server ARHGEF9_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1293C>A r.(?) p.(Asp431Glu) g.62858007G>T Copied from the Exome Variant Server ARHGEF9_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1310A>G r.(?) p.(Gln437Arg) g.62857990T>C Copied from the Exome Variant Server ARHGEF9_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1350A>T r.(=) p.(=) g.62857950T>A Copied from the Exome Variant Server ARHGEF9_000002 2/10563 2/6728 0/3835 - - - - - - -
?/? c.*7C>G r.(=) p.(=) g.62857901G>C Copied from the Exome Variant Server ARHGEF9_000001 2/10562 2/6728 0/3834 - - - - - - -
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