Full data view for gene KIAA1217

Information The variants shown are described using the NM_019590.3 transcript reference sequence.

403 entries on 5 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.-53A>G r.(=) p.(=) g.24498070A>G Copied from the Exome Variant Server KIAA1217_000001 4/4566 0/3182 4/1384 - - - - - - -
?/? c.-28C>A r.(=) p.(=) g.24498095C>A Copied from the Exome Variant Server KIAA1217_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-14G>A r.(=) p.(=) g.24498109G>A Copied from the Exome Variant Server KIAA1217_000003 60/13006 0/8600 60/4406 - - - - - - -
?/? c.26_27insT r.(?) p.(Glu10*) g.24498148_24498149insT Copied from the Exome Variant Server KIAA1217_000004 1/12518 0/8254 1/4264 - - - - - - -
?/? c.32C>T r.(?) p.(Pro11Leu) g.24498154C>T Copied from the Exome Variant Server KIAA1217_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.44A>G r.(?) p.(Tyr15Cys) g.24498166A>G Copied from the Exome Variant Server KIAA1217_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.47C>T r.(?) p.(Ser16Leu) g.24498169C>T Copied from the Exome Variant Server KIAA1217_000007 8/13006 7/8600 1/4406 - - - - - - -
?/? c.70+3A>G r.spl? p.? g.24498195A>G Copied from the Exome Variant Server KIAA1217_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.70+9C>G r.(=) p.(=) g.24498201C>G Copied from the Exome Variant Server KIAA1217_000009 17/13006 0/8600 17/4406 - - - - - - -
?/? c.70+23G>T r.(=) p.(=) g.24498215G>T Copied from the Exome Variant Server KIAA1217_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.71-27T>G r.(=) p.(=) g.24508528T>G Copied from the Exome Variant Server KIAA1217_000011 5/13006 1/8600 4/4406 - - - - - - -
?/? c.91C>T r.(?) p.(His31Tyr) g.24508575C>T Copied from the Exome Variant Server KIAA1217_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.121C>T r.(?) p.(Arg41Cys) g.24508605C>T Copied from the Exome Variant Server KIAA1217_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.136C>T r.(?) p.(Arg46Cys) g.24508620C>T Copied from the Exome Variant Server KIAA1217_000014 42/13006 39/8600 3/4406 - - - - - - -
?/? c.183C>A r.(=) p.(=) g.24508667C>A Copied from the Exome Variant Server KIAA1217_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213G>A r.(=) p.(=) g.24508697G>A Copied from the Exome Variant Server KIAA1217_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.217C>T r.(?) p.(Arg73*) g.24508701C>T Copied from the Exome Variant Server KIAA1217_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.218G>A r.(?) p.(Arg73Gln) g.24508702G>A Copied from the Exome Variant Server KIAA1217_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.262C>T r.(?) p.(Arg88Trp) g.24508746C>T Copied from the Exome Variant Server KIAA1217_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.24508796C>T Copied from the Exome Variant Server KIAA1217_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354+5G>A r.spl? p.? g.24508843G>A Copied from the Exome Variant Server KIAA1217_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.354+26T>C r.(=) p.(=) g.24508864T>C Copied from the Exome Variant Server KIAA1217_000022 6/13006 0/8600 6/4406 - - - - - - -
?/? c.354+42T>C r.(=) p.(=) g.24508880T>C Copied from the Exome Variant Server KIAA1217_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354+52C>T r.(=) p.(=) g.24508890C>T Copied from the Exome Variant Server KIAA1217_000026 16/7272 14/4618 2/2654 - - - - - - -
?/? c.354+55723T>C r.(=) p.(=) g.24564561T>C Copied from the Exome Variant Server KIAA1217_000028 1/4566 1/3182 0/1384 - - - - - - -
?/? c.354+55737del r.(=) p.(=) g.24564575del Copied from the Exome Variant Server KIAA1217_000023 40/11236 32/7328 8/3908 - - - - - - -
?/? c.354+55737T>G r.(=) p.(=) g.24564575T>G Copied from the Exome Variant Server KIAA1217_000025 3/10092 0/7026 3/3066 - - - - - - -
?/? c.354+55754C>T r.(=) p.(=) g.24564592C>T Copied from the Exome Variant Server KIAA1217_000027 12/10246 0/7132 12/3114 - - - - - - -
?/? c.354+55815C>T N/A N/A g.24564653C>T Copied from the Exome Variant Server KIAA1217_000029 446/10300 395/7164 51/3136 - - - - - - -
?/? c.354+55827A>G N/A N/A g.24564665A>G Copied from the Exome Variant Server KIAA1217_000030 15/10300 14/7164 1/3136 - - - - - - -
?/? c.354+55829G>A N/A N/A g.24564667G>A Copied from the Exome Variant Server KIAA1217_000031 3/10300 3/7164 0/3136 - - - - - - -
?/? c.354+55892A>C r.(=) p.(=) g.24564730A>C Copied from the Exome Variant Server KIAA1217_000032 1/10300 1/7164 0/3136 - - - - - - -
?/? c.354+55945G>C r.(=) p.(=) g.24564783G>C Copied from the Exome Variant Server KIAA1217_000033 1/4566 1/3182 0/1384 - - - - - - -
?/? c.355-51C>T r.(=) p.(=) g.24669747C>T Copied from the Exome Variant Server KIAA1217_000034 1543/13006 1110/8600 433/4406 - - - - - - -
?/? c.355-24_355-23insT r.(=) p.(=) g.24669774_24669775insT Copied from the Exome Variant Server KIAA1217_000035 1/12518 0/8254 1/4264 - - - - - - -
?/? c.370C>T r.(=) p.(=) g.24669813C>T Copied from the Exome Variant Server KIAA1217_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.24669851G>A Copied from the Exome Variant Server KIAA1217_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.409G>A r.(?) p.(Val137Ile) g.24669852G>A Copied from the Exome Variant Server KIAA1217_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.24669854C>T Copied from the Exome Variant Server KIAA1217_000039 7/13006 4/8600 3/4406 - - - - - - -
?/? c.429G>A r.(=) p.(=) g.24669872G>A Copied from the Exome Variant Server KIAA1217_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.24669875C>T Copied from the Exome Variant Server KIAA1217_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.433G>A r.(?) p.(Ala145Thr) g.24669876G>A Copied from the Exome Variant Server KIAA1217_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.434C>G r.(?) p.(Ala145Gly) g.24669877C>G Copied from the Exome Variant Server KIAA1217_000043 2468/13006 2237/8600 231/4406 - - - - - - -
?/? c.494G>A r.(?) p.(Arg165Gln) g.24669937G>A Copied from the Exome Variant Server KIAA1217_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.504G>A r.(=) p.(=) g.24669947G>A Copied from the Exome Variant Server KIAA1217_000045 4/13006 4/8600 0/4406 - - - - - - -
?/? c.520del r.(?) p.(Arg174Glyfs*42) g.24669963del Copied from the Exome Variant Server KIAA1217_000046 1/12518 0/8254 1/4264 - - - - - - -
?/? c.536C>T r.(?) p.(Thr179Met) g.24669979C>T Copied from the Exome Variant Server KIAA1217_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.553+32del r.(=) p.(=) g.24670028del Copied from the Exome Variant Server KIAA1217_000048 48/12518 1/8254 47/4264 - - - - - - -
?/? c.553+46C>T r.(=) p.(=) g.24670042C>T Copied from the Exome Variant Server KIAA1217_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.553+47G>A r.(=) p.(=) g.24670043G>A Copied from the Exome Variant Server KIAA1217_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.554-40G>A r.(=) p.(=) g.24721884G>A Copied from the Exome Variant Server KIAA1217_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.554-27A>T r.(=) p.(=) g.24721897A>T Copied from the Exome Variant Server KIAA1217_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.554-26_554-25insT r.(=) p.(=) g.24721898_24721899insT Copied from the Exome Variant Server KIAA1217_000055 1/12518 0/8254 1/4264 - - - - - - -
?/? c.567C>A r.(=) p.(=) g.24721937C>A Copied from the Exome Variant Server KIAA1217_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.569A>T r.(?) p.(Gln190Leu) g.24721939A>T Copied from the Exome Variant Server KIAA1217_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573T>C r.(=) p.(=) g.24721943T>C Copied from the Exome Variant Server KIAA1217_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.576A>C r.(=) p.(=) g.24721946A>C Copied from the Exome Variant Server KIAA1217_000063 2695/13006 1361/8600 1334/4406 - - - - - - -
?/? c.686C>T r.(?) p.(Ser229Leu) g.24722056C>T Copied from the Exome Variant Server KIAA1217_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.704A>G r.(?) p.(Tyr235Cys) g.24722074A>G Copied from the Exome Variant Server KIAA1217_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752+24C>T r.(=) p.(=) g.24722146C>T Copied from the Exome Variant Server KIAA1217_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.752+44del r.(=) p.(=) g.24722166del Copied from the Exome Variant Server KIAA1217_000056 34/12518 28/8254 6/4264 - - - - - - -
?/? c.753-26A>G r.(=) p.(=) g.24727289A>G Copied from the Exome Variant Server KIAA1217_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753-17G>A r.(=) p.(=) g.24727298G>A Copied from the Exome Variant Server KIAA1217_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.755A>G r.(?) p.(Asn252Ser) g.24727317A>G Copied from the Exome Variant Server KIAA1217_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.796C>G r.(?) p.(Pro266Ala) g.24727358C>G Copied from the Exome Variant Server KIAA1217_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.806C>T r.(?) p.(Ala269Val) g.24727368C>T Copied from the Exome Variant Server KIAA1217_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.807G>A r.(=) p.(=) g.24727369G>A Copied from the Exome Variant Server KIAA1217_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.846+19del r.(=) p.(=) g.24727427del Copied from the Exome Variant Server KIAA1217_000068 1/12518 0/8254 1/4264 - - - - - - -
?/? c.846+46C>T r.(=) p.(=) g.24727454C>T Copied from the Exome Variant Server KIAA1217_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.846+47G>A r.(=) p.(=) g.24727455G>A Copied from the Exome Variant Server KIAA1217_000070 2/13006 2/8600 0/4406 - - - - - - -
?/? c.846+50C>T r.(=) p.(=) g.24727458C>T Copied from the Exome Variant Server KIAA1217_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.847-13G>A r.(=) p.(=) g.24762144G>A Copied from the Exome Variant Server KIAA1217_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.847-9T>C r.(=) p.(=) g.24762148T>C Copied from the Exome Variant Server KIAA1217_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.867T>C r.(=) p.(=) g.24762177T>C Copied from the Exome Variant Server KIAA1217_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.871A>G r.(?) p.(Arg291Gly) g.24762181A>G Copied from the Exome Variant Server KIAA1217_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.896G>A r.(?) p.(Arg299His) g.24762206G>A Copied from the Exome Variant Server KIAA1217_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.24762255G>A Copied from the Exome Variant Server KIAA1217_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.954A>G r.(=) p.(=) g.24762264A>G Copied from the Exome Variant Server KIAA1217_000078 99/13006 2/8600 97/4406 - - - - - - -
?/? c.955G>A r.(?) p.(Val319Met) g.24762265G>A Copied from the Exome Variant Server KIAA1217_000079 3/13006 0/8600 3/4406 - - - - - - -
?/? c.980C>T r.(?) p.(Pro327Leu) g.24762290C>T Copied from the Exome Variant Server KIAA1217_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.981G>A r.(=) p.(=) g.24762291G>A Copied from the Exome Variant Server KIAA1217_000081 97/13006 9/8600 88/4406 - - - - - - -
?/? c.999G>A r.(=) p.(=) g.24762309G>A Copied from the Exome Variant Server KIAA1217_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1006C>T r.(?) p.(Arg336Cys) g.24762316C>T Copied from the Exome Variant Server KIAA1217_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1044G>A r.(=) p.(=) g.24762354G>A Copied from the Exome Variant Server KIAA1217_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1119C>T r.(=) p.(=) g.24762429C>T Copied from the Exome Variant Server KIAA1217_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1155A>G r.(=) p.(=) g.24762465A>G Copied from the Exome Variant Server KIAA1217_000086 1023/13006 914/8600 109/4406 - - - - - - -
?/? c.1180G>T r.(?) p.(Ala394Ser) g.24762490G>T Copied from the Exome Variant Server KIAA1217_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1185T>C r.(=) p.(=) g.24762495T>C Copied from the Exome Variant Server KIAA1217_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.24762510C>T Copied from the Exome Variant Server KIAA1217_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1281C>T r.(=) p.(=) g.24762591C>T Copied from the Exome Variant Server KIAA1217_000090 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1282G>A r.(?) p.(Ala428Thr) g.24762592G>A Copied from the Exome Variant Server KIAA1217_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1293A>G r.(=) p.(=) g.24762603A>G Copied from the Exome Variant Server KIAA1217_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1301C>T r.(?) p.(Ala434Val) g.24762611C>T Copied from the Exome Variant Server KIAA1217_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1307G>A r.(?) p.(Cys436Tyr) g.24762617G>A Copied from the Exome Variant Server KIAA1217_000094 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1326G>A r.(=) p.(=) g.24762636G>A Copied from the Exome Variant Server KIAA1217_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1357C>G r.(?) p.(Gln453Glu) g.24762667C>G Copied from the Exome Variant Server KIAA1217_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1362A>G r.(=) p.(=) g.24762672A>G Copied from the Exome Variant Server KIAA1217_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1376C>T r.(?) p.(Pro459Leu) g.24762686C>T Copied from the Exome Variant Server KIAA1217_000098 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1450A>G r.(?) p.(Ile484Val) g.24762760A>G Copied from the Exome Variant Server KIAA1217_000099 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1461C>T r.(=) p.(=) g.24762771C>T Copied from the Exome Variant Server KIAA1217_000100 20/13006 19/8600 1/4406 - - - - - - -
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