Full data view for gene CAPN6

Information The variants shown are described using the NM_014289.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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.98T>C r.(?) p.(Leu33Pro) g.110507067A>G Copied from the Exome Variant Server CAPN6_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.150G>A r.(=) p.(=) g.110507015C>T Copied from the Exome Variant Server CAPN6_000071 6/10563 0/6728 6/3835 - - - - - - -
?/? c.153G>A r.(?) p.(Trp51*) g.110507012C>T Copied from the Exome Variant Server CAPN6_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.166-18C>T r.(=) p.(=) g.110497649G>A Copied from the Exome Variant Server CAPN6_000069 63/10563 0/6728 63/3835 - - - - - - -
?/? c.177T>C r.(=) p.(=) g.110497620A>G Copied from the Exome Variant Server CAPN6_000068 3/10563 3/6728 0/3835 - - - - - - -
?/? c.288T>C r.(=) p.(=) g.110497509A>G Copied from the Exome Variant Server CAPN6_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.298-11T>C r.(=) p.(=) g.110496455A>G Copied from the Exome Variant Server CAPN6_000066 4/10563 1/6728 3/3835 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.110496391G>A Copied from the Exome Variant Server CAPN6_000065 994/10563 38/6728 956/3835 - - - - - - -
?/? c.388G>A r.(?) p.(Glu130Lys) g.110496354C>T Copied from the Exome Variant Server CAPN6_000064 2/10563 0/6728 2/3835 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.110496310G>A Copied from the Exome Variant Server CAPN6_000063 180/10563 160/6728 20/3835 - - - - - - -
?/? c.506+16A>T r.(=) p.(=) g.110496220T>A Copied from the Exome Variant Server CAPN6_000062 154/10563 0/6728 154/3835 - - - - - - -
?/? c.506+38T>C r.(=) p.(=) g.110496198A>G Copied from the Exome Variant Server CAPN6_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.506+42del r.(=) p.(=) g.110496194del Copied from the Exome Variant Server CAPN6_000060 2/10205 2/6484 0/3721 - - - - - - -
?/? c.507-8G>T r.(=) p.(=) g.110495735C>A Copied from the Exome Variant Server CAPN6_000059 5/10563 0/6728 5/3835 - - - - - - -
?/? c.547A>T r.(?) p.(Thr183Ser) g.110495687T>A Copied from the Exome Variant Server CAPN6_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.638A>T r.(?) p.(Lys213Met) g.110495596T>A Copied from the Exome Variant Server CAPN6_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.695T>C r.(?) p.(Ile232Thr) g.110495539A>G Copied from the Exome Variant Server CAPN6_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.699+25C>T r.(=) p.(=) g.110495510G>A Copied from the Exome Variant Server CAPN6_000055 1147/10563 37/6728 1110/3835 - - - - - - -
?/? c.699+44A>C r.(=) p.(=) g.110495491T>G Copied from the Exome Variant Server CAPN6_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.700-38C>G r.(=) p.(=) g.110495008G>C Copied from the Exome Variant Server CAPN6_000053 59/10563 52/6728 7/3835 - - - - - - -
?/? c.700-13T>C r.(=) p.(=) g.110494983A>G Copied from the Exome Variant Server CAPN6_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.704C>G r.(?) p.(Pro235Arg) g.110494966G>C Copied from the Exome Variant Server CAPN6_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.711G>A r.(=) p.(=) g.110494959C>T Copied from the Exome Variant Server CAPN6_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.829G>C r.(?) p.(Val277Leu) g.110494841C>G Copied from the Exome Variant Server CAPN6_000049 2556/10563 211/6728 2345/3835 - - - - - - -
?/? c.855C>A r.(=) p.(=) g.110494815G>T Copied from the Exome Variant Server CAPN6_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.893+10A>G r.(=) p.(=) g.110494767T>C Copied from the Exome Variant Server CAPN6_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.893+21A>G r.(=) p.(=) g.110494756T>C Copied from the Exome Variant Server CAPN6_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.893+40C>T r.(=) p.(=) g.110494737G>A Copied from the Exome Variant Server CAPN6_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.893+43G>A r.(=) p.(=) g.110494734C>T Copied from the Exome Variant Server CAPN6_000044 8/10563 8/6728 0/3835 - - - - - - -
?/? c.894-33T>C r.(=) p.(=) g.110494547A>G Copied from the Exome Variant Server CAPN6_000043 33/10559 0/6727 33/3832 - - - - - - -
?/? c.894-25T>C r.(=) p.(=) g.110494539A>G Copied from the Exome Variant Server CAPN6_000042 1/10555 1/6726 0/3829 - - - - - - -
?/? c.900A>G r.(=) p.(=) g.110494508T>C Copied from the Exome Variant Server CAPN6_000041 1/10562 0/6727 1/3835 - - - - - - -
?/? c.971+20C>T r.(=) p.(=) g.110494417G>A Copied from the Exome Variant Server CAPN6_000040 151/10563 133/6728 18/3835 - - - - - - -
?/? c.971+34G>T r.(=) p.(=) g.110494403C>A Copied from the Exome Variant Server CAPN6_000039 2/10563 0/6728 2/3835 - - - - - - -
?/? c.971+50A>C r.(=) p.(=) g.110494387T>G Copied from the Exome Variant Server CAPN6_000038 2/10563 0/6728 2/3835 - - - - - - -
?/? c.972-12C>T r.(=) p.(=) g.110494343G>A Copied from the Exome Variant Server CAPN6_000036 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1026T>C r.(=) p.(=) g.110494277A>G Copied from the Exome Variant Server CAPN6_000034 234/10563 222/6728 12/3835 - - - - - - -
?/? c.1032C>A r.(?) p.(Asn344Lys) g.110494271G>T Copied from the Exome Variant Server CAPN6_000032 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1158+5G>A r.spl? p.? g.110494140C>T Copied from the Exome Variant Server CAPN6_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1159-43del r.(=) p.(=) g.110492328del Copied from the Exome Variant Server CAPN6_000035 2/10205 0/6484 2/3721 - - - - - - -
?/? c.1222C>T r.(?) p.(Arg408Cys) g.110492222G>A Copied from the Exome Variant Server CAPN6_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1235G>A r.(?) p.(Arg412Gln) g.110492209C>T Copied from the Exome Variant Server CAPN6_000031 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1256A>G r.(?) p.(Tyr419Cys) g.110492188T>C Copied from the Exome Variant Server CAPN6_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1279A>G r.(?) p.(Lys427Glu) g.110492165T>C Copied from the Exome Variant Server CAPN6_000029 39/10563 2/6728 37/3835 - - - - - - -
?/? c.1281+10G>A r.(=) p.(=) g.110492153C>T Copied from the Exome Variant Server CAPN6_000028 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1281+13del r.(=) p.(=) g.110492150del Copied from the Exome Variant Server CAPN6_000027 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1281+17G>A r.(=) p.(=) g.110492146C>T Copied from the Exome Variant Server CAPN6_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1303C>T r.(?) p.(Arg435Cys) g.110491978G>A Copied from the Exome Variant Server CAPN6_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1379A>G r.(?) p.(Lys460Arg) g.110491902T>C Copied from the Exome Variant Server CAPN6_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1416C>T r.(=) p.(=) g.110491865G>A Copied from the Exome Variant Server CAPN6_000023 91/10563 0/6728 91/3835 - - - - - - -
?/? c.1428T>C r.(=) p.(=) g.110491853A>G Copied from the Exome Variant Server CAPN6_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1449C>T r.(=) p.(=) g.110491832G>A Copied from the Exome Variant Server CAPN6_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1484+38T>C r.(=) p.(=) g.110491759A>G Copied from the Exome Variant Server CAPN6_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1485-11T>C r.(=) p.(=) g.110491231A>G Copied from the Exome Variant Server CAPN6_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1493C>T r.(?) p.(Thr498Ile) g.110491212G>A Copied from the Exome Variant Server CAPN6_000018 16/10563 13/6728 3/3835 - - - - - - -
?/? c.1555C>G r.(?) p.(Gln519Glu) g.110491150G>C Copied from the Exome Variant Server CAPN6_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1607-51A>G r.(=) p.(=) g.110490783T>C Copied from the Exome Variant Server CAPN6_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1607-39T>C r.(=) p.(=) g.110490771A>G Copied from the Exome Variant Server CAPN6_000015 88/10563 80/6728 8/3835 - - - - - - -
?/? c.1607-25A>G r.(=) p.(=) g.110490757T>C Copied from the Exome Variant Server CAPN6_000014 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1607-9T>C r.(=) p.(=) g.110490741A>G Copied from the Exome Variant Server CAPN6_000013 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1695C>T r.(=) p.(=) g.110490644G>A Copied from the Exome Variant Server CAPN6_000012 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1732A>G r.(?) p.(Ile578Val) g.110490607T>C Copied from the Exome Variant Server CAPN6_000011 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1743+22G>A r.(=) p.(=) g.110490574C>T Copied from the Exome Variant Server CAPN6_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1743+23C>G r.(=) p.(=) g.110490573G>C Copied from the Exome Variant Server CAPN6_000009 80/10563 73/6728 7/3835 - - - - - - -
?/? c.1744-45T>C r.(=) p.(=) g.110490032A>G Copied from the Exome Variant Server CAPN6_000008 5/10558 5/6724 0/3834 - - - - - - -
?/? c.1744-23A>G r.(=) p.(=) g.110490010T>C Copied from the Exome Variant Server CAPN6_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1780G>A r.(?) p.(Gly594Arg) g.110489951C>T Copied from the Exome Variant Server CAPN6_000006 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1809C>T r.(=) p.(=) g.110489922G>A Copied from the Exome Variant Server CAPN6_000005 7/10563 6/6728 1/3835 - - - - - - -
?/? c.1860T>A r.(=) p.(=) g.110489871A>T Copied from the Exome Variant Server CAPN6_000004 44/10563 33/6728 11/3835 - - - - - - -
?/? c.1882A>G r.(?) p.(Ile628Val) g.110489849T>C Copied from the Exome Variant Server CAPN6_000003 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1906G>A r.(?) p.(Asp636Asn) g.110489825C>T Copied from the Exome Variant Server CAPN6_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*50C>T r.(=) p.(=) g.110489755G>A Copied from the Exome Variant Server CAPN6_000001 3/10563 3/6728 0/3835 - - - - - - -
Legend