Full data view for gene CD99

Information The variants shown are described using the NM_001122898.1 transcript reference sequence.

108 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-51T>A r.(=) p.(=) g.2609351T>A Copied from the Exome Variant Server CD99_000001 124/12024 1/7934 123/4090 - - - - - - -
?/? c.7C>T r.(?) p.(Arg3Cys) g.2609408C>T Copied from the Exome Variant Server CD99_000002 3/12724 0/8398 3/4326 - - - - - - -
?/? c.52C>G r.(?) p.(Leu18Val) g.2609453C>G Copied from the Exome Variant Server CD99_000003 213/12880 5/8508 208/4372 - - - - - - -
?/? c.67+6C>A r.(=) p.(=) g.2609474C>A Copied from the Exome Variant Server CD99_000004 1/12828 0/8474 1/4354 - - - - - - -
?/? c.67+30G>C r.(=) p.(=) g.2609498G>C Copied from the Exome Variant Server CD99_000005 31/12670 3/8374 28/4296 - - - - - - -
?/? c.67+47C>T r.(=) p.(=) g.2609515C>T Copied from the Exome Variant Server CD99_000006 1/12340 1/8146 0/4194 - - - - - - -
?/? c.67+348T>C r.(=) p.(=) g.2609816T>C Copied from the Exome Variant Server CD99_000007 1/5724 1/3978 0/1746 - - - - - - -
?/? c.67+386C>T r.(=) p.(=) g.2609854C>T Copied from the Exome Variant Server CD99_000008 1/5724 1/3976 0/1748 - - - - - - -
?/? c.67+413C>A r.(=) p.(=) g.2609881C>A Copied from the Exome Variant Server CD99_000009 38/5730 0/3980 38/1750 - - - - - - -
?/? c.67+419C>T r.(=) p.(=) g.2609887C>T Copied from the Exome Variant Server CD99_000010 2/5730 0/3980 2/1750 - - - - - - -
?/? c.67+433G>A r.(=) p.(=) g.2609901G>A Copied from the Exome Variant Server CD99_000011 1/5726 0/3980 1/1746 - - - - - - -
?/? c.67+459A>G r.(=) p.(=) g.2609927A>G Copied from the Exome Variant Server CD99_000012 1/5732 1/3980 0/1752 - - - - - - -
?/? c.67+515T>C r.(=) p.(=) g.2609983T>C Copied from the Exome Variant Server CD99_000013 3451/5732 2560/3980 891/1752 - - - - - - -
?/? c.67+557C>T r.(=) p.(=) g.2610025C>T Copied from the Exome Variant Server CD99_000014 382/5716 212/3966 170/1750 - - - - - - -
?/? c.68-24G>A r.(=) p.(=) g.2632439G>A Copied from the Exome Variant Server CD99_000015 1/12990 0/8584 1/4406 - - - - - - -
?/? c.68-22T>C r.(=) p.(=) g.2632441T>C Copied from the Exome Variant Server CD99_000016 1/12990 0/8584 1/4406 - - - - - - -
?/? c.68-17C>T r.(=) p.(=) g.2632446C>T Copied from the Exome Variant Server CD99_000017 3/12990 0/8584 3/4406 - - - - - - -
?/? c.68-14T>G r.(=) p.(=) g.2632449T>G Copied from the Exome Variant Server CD99_000018 3/12990 0/8584 3/4406 - - - - - - -
?/? c.68-9C>G r.(=) p.(=) g.2632454C>G Copied from the Exome Variant Server CD99_000019 1/12992 0/8586 1/4406 - - - - - - -
?/? c.68-7C>A r.(=) p.(=) g.2632456C>A Copied from the Exome Variant Server CD99_000020 1/12992 0/8586 1/4406 - - - - - - -
?/? c.82T>G r.(?) p.(Leu28Val) g.2632477T>G Copied from the Exome Variant Server CD99_000021 1/12998 1/8592 0/4406 - - - - - - -
?/? c.87C>T r.(=) p.(=) g.2632482C>T Copied from the Exome Variant Server CD99_000022 4786/12998 4332/8592 454/4406 - - - - - - -
?/? c.100+29C>T r.(=) p.(=) g.2632524C>T Copied from the Exome Variant Server CD99_000023 29/12998 0/8592 29/4406 - - - - - - -
?/? c.100+31G>A r.(=) p.(=) g.2632526G>A Copied from the Exome Variant Server CD99_000024 3/12998 0/8592 3/4406 - - - - - - -
?/? c.101-2082C>G r.(=) p.(=) g.2635620C>G Copied from the Exome Variant Server CD99_000025 161/12998 59/8592 102/4406 - - - - - - -
?/? c.101-1988G>A r.(=) p.(=) g.2635714G>A Copied from the Exome Variant Server CD99_000026 1/12998 1/8592 0/4406 - - - - - - -
?/? c.101-1983C>G r.(=) p.(=) g.2635719C>G Copied from the Exome Variant Server CD99_000027 1/12998 0/8592 1/4406 - - - - - - -
?/? c.101-1970C>A r.(=) p.(=) g.2635732C>A Copied from the Exome Variant Server CD99_000028 60/12998 0/8592 60/4406 - - - - - - -
?/? c.101-1945C>T r.(=) p.(=) g.2635757C>T Copied from the Exome Variant Server CD99_000029 3/4566 0/3182 3/1384 - - - - - - -
?/? c.101-71C>G r.(=) p.(=) g.2637631C>G Copied from the Exome Variant Server CD99_000030 2/4566 0/3182 2/1384 - - - - - - -
?/? c.101-66C>G r.(=) p.(=) g.2637636C>G Copied from the Exome Variant Server CD99_000031 1/4566 1/3182 0/1384 - - - - - - -
?/? c.101-46G>A r.(=) p.(=) g.2637656G>A Copied from the Exome Variant Server CD99_000032 1/12998 0/8592 1/4406 - - - - - - -
?/? c.101-28G>C r.(=) p.(=) g.2637674G>C Copied from the Exome Variant Server CD99_000033 1/12998 1/8592 0/4406 - - - - - - -
?/? c.101-9C>T r.(=) p.(=) g.2637693C>T Copied from the Exome Variant Server CD99_000034 2/12998 2/8592 0/4406 - - - - - - -
?/? c.145+27G>T r.(=) p.(=) g.2637773G>T Copied from the Exome Variant Server CD99_000035 1/12998 1/8592 0/4406 - - - - - - -
?/? c.145+44T>G r.(=) p.(=) g.2637790T>G Copied from the Exome Variant Server CD99_000036 4/12998 4/8592 0/4406 - - - - - - -
?/? c.145+59A>C r.(=) p.(=) g.2637805A>C Copied from the Exome Variant Server CD99_000037 1/4566 0/3182 1/1384 - - - - - - -
?/? c.145+75T>A r.(=) p.(=) g.2637821T>A Copied from the Exome Variant Server CD99_000038 141/4566 0/3182 141/1384 - - - - - - -
?/? c.146-60del r.(=) p.(=) g.2638337del Copied from the Exome Variant Server CD99_000039 1/12504 1/8246 0/4258 - - - - - - -
?/? c.146-49T>C r.(=) p.(=) g.2638348T>C Copied from the Exome Variant Server CD99_000040 2/12998 0/8592 2/4406 - - - - - - -
?/? c.146-37G>A r.(=) p.(=) g.2638360G>A Copied from the Exome Variant Server CD99_000041 397/12998 6/8592 391/4406 - - - - - - -
?/? c.146-35C>T r.(=) p.(=) g.2638362C>T Copied from the Exome Variant Server CD99_000042 1/12998 1/8592 0/4406 - - - - - - -
?/? c.147C>T r.(=) p.(=) g.2638398C>T Copied from the Exome Variant Server CD99_000043 5/12998 1/8592 4/4406 - - - - - - -
?/? c.175C>T r.(?) p.(Pro59Ser) g.2638426C>T Copied from the Exome Variant Server CD99_000044 1/12998 1/8592 0/4406 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.2638464C>T Copied from the Exome Variant Server CD99_000045 3/12998 3/8592 0/4406 - - - - - - -
?/? c.214+34G>A r.(=) p.(=) g.2638499G>A Copied from the Exome Variant Server CD99_000046 3484/12998 1738/8592 1746/4406 - - - - - - -
?/? c.239C>T r.(?) p.(Ala80Val) g.2640692C>T Copied from the Exome Variant Server CD99_000047 2/12998 1/8592 1/4406 - - - - - - -
?/? c.240G>A r.(=) p.(=) g.2640693G>A Copied from the Exome Variant Server CD99_000048 4/12998 1/8592 3/4406 - - - - - - -
?/? c.247G>A r.(?) p.(Val83Ile) g.2640700G>A Copied from the Exome Variant Server CD99_000049 1/12998 0/8592 1/4406 - - - - - - -
?/? c.262+65A>G r.(=) p.(=) g.2640780A>G Copied from the Exome Variant Server CD99_000050 115/4566 1/3182 114/1384 - - - - - - -
?/? c.263-69A>C r.(=) p.(=) g.2641286A>C Copied from the Exome Variant Server CD99_000051 115/4566 0/3182 115/1384 - - - - - - -
?/? c.263-48T>G r.(=) p.(=) g.2641307T>G Copied from the Exome Variant Server CD99_000052 1/12998 1/8592 0/4406 - - - - - - -
?/? c.263-38C>T r.(=) p.(=) g.2641317C>T Copied from the Exome Variant Server CD99_000053 1/12998 1/8592 0/4406 - - - - - - -
?/? c.263-35A>C r.(=) p.(=) g.2641320A>C Copied from the Exome Variant Server CD99_000054 647/12998 4/8592 643/4406 - - - - - - -
?/? c.263-29C>T r.(=) p.(=) g.2641326C>T Copied from the Exome Variant Server CD99_000055 1/12998 1/8592 0/4406 - - - - - - -
?/? c.263-19C>T r.(=) p.(=) g.2641336C>T Copied from the Exome Variant Server CD99_000056 1/12998 1/8592 0/4406 - - - - - - -
?/? c.263-18G>T r.(=) p.(=) g.2641337G>T Copied from the Exome Variant Server CD99_000057 1/12998 1/8592 0/4406 - - - - - - -
?/? c.263-10_263-9del r.(=) p.(=) g.2641345_2641346del Copied from the Exome Variant Server CD99_000058 43/12504 37/8246 6/4258 - - - - - - -
?/? c.307G>A r.(?) p.(Glu103Lys) g.2641399G>A Copied from the Exome Variant Server CD99_000059 5/12998 3/8592 2/4406 - - - - - - -
?/? c.312G>C r.(?) p.(Glu104Asp) g.2641404G>C Copied from the Exome Variant Server CD99_000060 1/12998 1/8592 0/4406 - - - - - - -
?/? c.313+14G>A r.(=) p.(=) g.2641419G>A Copied from the Exome Variant Server CD99_000061 2/12998 2/8592 0/4406 - - - - - - -
?/? c.313+34C>T r.(=) p.(=) g.2641439C>T Copied from the Exome Variant Server CD99_000062 1/12998 0/8592 1/4406 - - - - - - -
?/? c.313+38C>T r.(=) p.(=) g.2641443C>T Copied from the Exome Variant Server CD99_000063 23/12998 23/8592 0/4406 - - - - - - -
?/? c.313+48A>C r.(=) p.(=) g.2641453A>C Copied from the Exome Variant Server CD99_000064 69/12998 2/8592 67/4406 - - - - - - -
?/? c.314-25C>T r.(=) p.(=) g.2644276C>T Copied from the Exome Variant Server CD99_000065 1/12998 0/8592 1/4406 - - - - - - -
?/? c.314-14G>C r.(=) p.(=) g.2644287G>C Copied from the Exome Variant Server CD99_000066 1/12998 0/8592 1/4406 - - - - - - -
?/? c.314-9C>T r.(=) p.(=) g.2644292C>T Copied from the Exome Variant Server CD99_000067 25/12998 0/8592 25/4406 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.2644302C>T Copied from the Exome Variant Server CD99_000068 1694/12998 1289/8592 405/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.2644305C>T Copied from the Exome Variant Server CD99_000069 1/12998 1/8592 0/4406 - - - - - - -
?/? c.327C>T r.(=) p.(=) g.2644314C>T Copied from the Exome Variant Server CD99_000070 57/12998 0/8592 57/4406 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.2644323C>T Copied from the Exome Variant Server CD99_000071 10/12998 9/8592 1/4406 - - - - - - -
?/? c.337G>A r.(?) p.(Gly113Arg) g.2644324G>A Copied from the Exome Variant Server CD99_000072 1/12998 1/8592 0/4406 - - - - - - -
?/? c.366G>A r.(=) p.(=) g.2644353G>A Copied from the Exome Variant Server CD99_000073 35/12998 2/8592 33/4406 - - - - - - -
?/? c.427+17C>T r.(=) p.(=) g.2644431C>T Copied from the Exome Variant Server CD99_000074 1/12998 1/8592 0/4406 - - - - - - -
?/? c.427+52C>G r.(=) p.(=) g.2644466C>G Copied from the Exome Variant Server CD99_000075 1/12998 1/8592 0/4406 - - - - - - -
?/? c.427+94C>T r.(=) p.(=) g.2644508C>T Copied from the Exome Variant Server CD99_000076 2/5730 2/3978 0/1752 - - - - - - -
?/? c.427+102G>T r.(=) p.(=) g.2644516G>T Copied from the Exome Variant Server CD99_000077 1018/5730 687/3978 331/1752 - - - - - - -
?/? c.427+884A>G r.(=) p.(=) g.2645298A>G Copied from the Exome Variant Server CD99_000078 1/5734 0/3982 1/1752 - - - - - - -
?/? c.427+952G>C r.(=) p.(=) g.2645366G>C Copied from the Exome Variant Server CD99_000079 4051/5734 2541/3982 1510/1752 - - - - - - -
?/? c.427+1000C>A r.(=) p.(=) g.2645414C>A Copied from the Exome Variant Server CD99_000080 1/5734 1/3982 0/1752 - - - - - - -
?/? c.427+1005G>A r.(=) p.(=) g.2645419G>A Copied from the Exome Variant Server CD99_000081 1/5734 0/3982 1/1752 - - - - - - -
?/? c.428-4884T>C r.(=) p.(=) g.2651357T>C Copied from the Exome Variant Server CD99_000082 2/5614 2/3896 0/1718 - - - - - - -
?/? c.428-4864G>T r.(=) p.(=) g.2651377G>T Copied from the Exome Variant Server CD99_000083 57/5706 0/3962 57/1744 - - - - - - -
?/? c.428-4860T>C r.(=) p.(=) g.2651381T>C Copied from the Exome Variant Server CD99_000084 3/5708 1/3962 2/1746 - - - - - - -
?/? c.428-61T>C r.(=) p.(=) g.2656180T>C Copied from the Exome Variant Server CD99_000085 237/4566 186/3182 51/1384 - - - - - - -
?/? c.428-31G>A r.(=) p.(=) g.2656210G>A Copied from the Exome Variant Server CD99_000086 1/12998 1/8592 0/4406 - - - - - - -
?/? c.445G>A r.(?) p.(Asp149Asn) g.2656258G>A Copied from the Exome Variant Server CD99_000087 563/12998 500/8592 63/4406 - - - - - - -
?/? c.448A>G r.(?) p.(Met150Val) g.2656261A>G Copied from the Exome Variant Server CD99_000088 740/12998 502/8592 238/4406 - - - - - - -
?/? c.453G>A r.(=) p.(=) g.2656266G>A Copied from the Exome Variant Server CD99_000089 1/12998 0/8592 1/4406 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154Gln) g.2656274G>A Copied from the Exome Variant Server CD99_000090 13/12998 1/8592 12/4406 - - - - - - -
?/? c.463A>C r.(?) p.(Asn155His) g.2656276A>C Copied from the Exome Variant Server CD99_000091 15/12998 0/8592 15/4406 - - - - - - -
?/? c.470A>T r.(?) p.(Asn157Ile) g.2656283A>T Copied from the Exome Variant Server CD99_000092 656/12998 501/8592 155/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.2656284C>T Copied from the Exome Variant Server CD99_000093 1/12998 0/8592 1/4406 - - - - - - -
?/? c.484+11C>T r.(=) p.(=) g.2656308C>T Copied from the Exome Variant Server CD99_000094 1/12998 1/8592 0/4406 - - - - - - -
?/? c.484+18C>T r.(=) p.(=) g.2656315C>T Copied from the Exome Variant Server CD99_000095 84/12998 1/8592 83/4406 - - - - - - -
?/? c.484+32C>T r.(=) p.(=) g.2656329C>T Copied from the Exome Variant Server CD99_000096 18/12998 17/8592 1/4406 - - - - - - -
?/? c.484+39A>G r.(=) p.(=) g.2656336A>G Copied from the Exome Variant Server CD99_000097 1/12998 0/8592 1/4406 - - - - - - -
?/? c.485-85C>T r.(=) p.(=) g.2658735C>T Copied from the Exome Variant Server CD99_000098 1/4566 0/3182 1/1384 - - - - - - -
?/? c.485-53C>T r.(=) p.(=) g.2658767C>T Copied from the Exome Variant Server CD99_000099 1/4566 0/3182 1/1384 - - - - - - -
?/? c.485-37C>A r.(=) p.(=) g.2658783C>A Copied from the Exome Variant Server CD99_000100 2007/12998 1224/8592 783/4406 - - - - - - -
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