Full data view for gene KIAA2022

Information The variants shown are described using the NM_001008537.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.42C>T r.(=) p.(=) g.73965444G>A Copied from the Exome Variant Server KIAA2022_000092 1/10560 1/6727 0/3833 - - - - - - -
?/? c.72A>G r.(=) p.(=) g.73965414T>C Copied from the Exome Variant Server KIAA2022_000091 1/10560 1/6727 0/3833 - - - - - - -
?/? c.79+22A>G r.(=) p.(=) g.73965385T>C Copied from the Exome Variant Server KIAA2022_000090 6/10560 0/6727 6/3833 - - - - - - -
?/? c.79+42A>C r.(=) p.(=) g.73965365T>G Copied from the Exome Variant Server KIAA2022_000089 117/10549 0/6724 117/3825 - - - - - - -
?/? c.133G>A r.(?) p.(Ala45Thr) g.73964259C>T Copied from the Exome Variant Server KIAA2022_000088 4/10563 3/6728 1/3835 - - - - - - -
?/? c.151C>A r.(?) p.(Pro51Thr) g.73964241G>T Copied from the Exome Variant Server KIAA2022_000087 108/10563 0/6728 108/3835 - - - - - - -
?/? c.153G>A r.(=) p.(=) g.73964239C>T Copied from the Exome Variant Server KIAA2022_000086 1/10563 0/6728 1/3835 - - - - - - -
?/? c.303C>G r.(=) p.(=) g.73964089G>C Copied from the Exome Variant Server KIAA2022_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.313A>C r.(?) p.(Ile105Leu) g.73964079T>G Copied from the Exome Variant Server KIAA2022_000084 2/10563 0/6728 2/3835 - - - - - - -
?/? c.347A>G r.(?) p.(Asn116Ser) g.73964045T>C Copied from the Exome Variant Server KIAA2022_000083 7/10563 0/6728 7/3835 - - - - - - -
?/? c.357G>A r.(=) p.(=) g.73964035C>T Copied from the Exome Variant Server KIAA2022_000082 2/10563 0/6728 2/3835 - - - - - - -
?/? c.381G>A r.(=) p.(=) g.73964011C>T Copied from the Exome Variant Server KIAA2022_000081 3/10563 2/6728 1/3835 - - - - - - -
?/? c.414T>C r.(=) p.(=) g.73963978A>G Copied from the Exome Variant Server KIAA2022_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.475C>T r.(?) p.(Pro159Ser) g.73963917G>A Copied from the Exome Variant Server KIAA2022_000079 3/10563 3/6728 0/3835 - - - - - - -
?/? c.685G>T r.(?) p.(Asp229Tyr) g.73963707C>A Copied from the Exome Variant Server KIAA2022_000078 1/10562 0/6727 1/3835 - - - - - - -
?/? c.689C>T r.(?) p.(Pro230Leu) g.73963703G>A Copied from the Exome Variant Server KIAA2022_000077 1/10561 0/6726 1/3835 - - - - - - -
?/? c.764A>G r.(?) p.(Asn255Ser) g.73963628T>C Copied from the Exome Variant Server KIAA2022_000076 1/10563 0/6728 1/3835 - - - - - - -
?/? c.793A>G r.(?) p.(Ile265Val) g.73963599T>C Copied from the Exome Variant Server KIAA2022_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.813A>G r.(=) p.(=) g.73963579T>C Copied from the Exome Variant Server KIAA2022_000074 1/10563 0/6728 1/3835 - - - - - - -
?/? c.911G>T r.(?) p.(Gly304Val) g.73963481C>A Copied from the Exome Variant Server KIAA2022_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1132A>G r.(?) p.(Lys378Glu) g.73963260T>C Copied from the Exome Variant Server KIAA2022_000072 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1138T>C r.(=) p.(=) g.73963254A>G Copied from the Exome Variant Server KIAA2022_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1298T>C r.(?) p.(Leu433Pro) g.73963094A>G Copied from the Exome Variant Server KIAA2022_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1550A>T r.(?) p.(Glu517Val) g.73962842T>A Copied from the Exome Variant Server KIAA2022_000069 1/10553 0/6722 1/3831 - - - - - - -
?/? c.1577A>G r.(?) p.(Lys526Arg) g.73962815T>C Copied from the Exome Variant Server KIAA2022_000068 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1711A>T r.(?) p.(Ser571Cys) g.73962681T>A Copied from the Exome Variant Server KIAA2022_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1712G>A r.(?) p.(Ser571Asn) g.73962680C>T Copied from the Exome Variant Server KIAA2022_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1716G>T r.(?) p.(Glu572Asp) g.73962676C>A Copied from the Exome Variant Server KIAA2022_000065 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1797G>A r.(=) p.(=) g.73962595C>T Copied from the Exome Variant Server KIAA2022_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1854G>A r.(=) p.(=) g.73962538C>T Copied from the Exome Variant Server KIAA2022_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1983C>T r.(=) p.(=) g.73962409G>A Copied from the Exome Variant Server KIAA2022_000062 4/10563 3/6728 1/3835 - - - - - - -
?/? c.2086G>A r.(?) p.(Gly696Ser) g.73962306C>T Copied from the Exome Variant Server KIAA2022_000061 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2098G>C r.(?) p.(Val700Leu) g.73962294C>G Copied from the Exome Variant Server KIAA2022_000060 9/10563 7/6728 2/3835 - - - - - - -
?/? c.2139G>A r.(=) p.(=) g.73962253C>T Copied from the Exome Variant Server KIAA2022_000059 14/10563 13/6728 1/3835 - - - - - - -
?/? c.2154T>C r.(=) p.(=) g.73962238A>G Copied from the Exome Variant Server KIAA2022_000058 49/10563 0/6728 49/3835 - - - - - - -
?/? c.2227A>G r.(?) p.(Ile743Val) g.73962165T>C Copied from the Exome Variant Server KIAA2022_000057 1/10561 1/6727 0/3834 - - - - - - -
?/? c.2298G>T r.(=) p.(=) g.73962094C>A Copied from the Exome Variant Server KIAA2022_000056 1/10561 0/6727 1/3834 - - - - - - -
?/? c.2315G>A r.(?) p.(Arg772His) g.73962077C>T Copied from the Exome Variant Server KIAA2022_000055 3/10563 2/6728 1/3835 - - - - - - -
?/? c.2320T>C r.(?) p.(Ser774Pro) g.73962072A>G Copied from the Exome Variant Server KIAA2022_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2373A>C r.(=) p.(=) g.73962019T>G Copied from the Exome Variant Server KIAA2022_000053 49/10563 0/6728 49/3835 - - - - - - -
?/? c.2388G>A r.(?) p.(Met796Ile) g.73962004C>T Copied from the Exome Variant Server KIAA2022_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2433G>A r.(=) p.(=) g.73961959C>T Copied from the Exome Variant Server KIAA2022_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2505C>T r.(=) p.(=) g.73961887G>A Copied from the Exome Variant Server KIAA2022_000051 5/10563 0/6728 5/3835 - - - - - - -
?/? c.2544C>T r.(=) p.(=) g.73961848G>A Copied from the Exome Variant Server KIAA2022_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2598C>A r.(=) p.(=) g.73961794G>T Copied from the Exome Variant Server KIAA2022_000048 152/10563 139/6728 13/3835 - - - - - - -
?/? c.2628T>A r.(?) p.(His876Gln) g.73961764A>T Copied from the Exome Variant Server KIAA2022_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2669C>T r.(?) p.(Pro890Leu) g.73961723G>A Copied from the Exome Variant Server KIAA2022_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2697A>G r.(=) p.(=) g.73961695T>C Copied from the Exome Variant Server KIAA2022_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2786C>T r.(?) p.(Thr929Ile) g.73961606G>A Copied from the Exome Variant Server KIAA2022_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2795C>T r.(?) p.(Thr932Ile) g.73961597G>A Copied from the Exome Variant Server KIAA2022_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2801A>G r.(?) p.(Asn934Ser) g.73961591T>C Copied from the Exome Variant Server KIAA2022_000042 116/10563 103/6728 13/3835 - - - - - - -
?/? c.2845C>T r.(=) p.(=) g.73961547G>A Copied from the Exome Variant Server KIAA2022_000041 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2849A>T r.(?) p.(Tyr950Phe) g.73961543T>A Copied from the Exome Variant Server KIAA2022_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2865T>C r.(=) p.(=) g.73961527A>G Copied from the Exome Variant Server KIAA2022_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2927T>G r.(?) p.(Phe976Cys) g.73961465A>C Copied from the Exome Variant Server KIAA2022_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2938C>G r.(?) p.(Gln980Glu) g.73961454G>C Copied from the Exome Variant Server KIAA2022_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2951A>G r.(?) p.(Asn984Ser) g.73961441T>C Copied from the Exome Variant Server KIAA2022_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3012T>C r.(=) p.(=) g.73961380A>G Copied from the Exome Variant Server KIAA2022_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3224A>G r.(?) p.(Asp1075Gly) g.73961168T>C Copied from the Exome Variant Server KIAA2022_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3288G>A r.(=) p.(=) g.73961104C>T Copied from the Exome Variant Server KIAA2022_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3302_3304del r.(?) p.(Gly1101del) g.73961088_73961090del Copied from the Exome Variant Server KIAA2022_000032 1/10205 0/6484 1/3721 - - - - - - -
?/? c.3402C>A r.(?) p.(His1134Gln) g.73960990G>T Copied from the Exome Variant Server KIAA2022_000031 2/10563 2/6728 0/3835 - - - - - - -
?/? c.3501T>A r.(?) p.(Ser1167Arg) g.73960891A>T Copied from the Exome Variant Server KIAA2022_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3555G>T r.(=) p.(=) g.73960837C>A Copied from the Exome Variant Server KIAA2022_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3650G>A r.(?) p.(Arg1217His) g.73960742C>T Copied from the Exome Variant Server KIAA2022_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3701G>A r.(?) p.(Gly1234Glu) g.73960691C>T Copied from the Exome Variant Server KIAA2022_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3709A>T r.(?) p.(Met1237Leu) g.73960683T>A Copied from the Exome Variant Server KIAA2022_000026 49/10563 0/6728 49/3835 - - - - - - -
?/? c.3753A>G r.(?) p.(Ile1251Met) g.73960639T>C Copied from the Exome Variant Server KIAA2022_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3764G>C r.(?) p.(Gly1255Ala) g.73960628C>G Copied from the Exome Variant Server KIAA2022_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3798C>T r.(=) p.(=) g.73960594G>A Copied from the Exome Variant Server KIAA2022_000023 73/10563 0/6728 73/3835 - - - - - - -
?/? c.3812T>C r.(?) p.(Met1271Thr) g.73960580A>G Copied from the Exome Variant Server KIAA2022_000022 3/10563 2/6728 1/3835 - - - - - - -
?/? c.3823A>G r.(?) p.(Ser1275Gly) g.73960569T>C Copied from the Exome Variant Server KIAA2022_000021 4/10563 4/6728 0/3835 - - - - - - -
?/? c.3931C>T r.(?) p.(Arg1311Trp) g.73960461G>A Copied from the Exome Variant Server KIAA2022_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4004T>G r.(?) p.(Met1335Arg) g.73960388A>C Copied from the Exome Variant Server KIAA2022_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4063T>C r.(?) p.(Tyr1355His) g.73960329A>G Copied from the Exome Variant Server KIAA2022_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4150G>A r.(?) p.(Gly1384Arg) g.73960242C>T Copied from the Exome Variant Server KIAA2022_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4205A>G r.(?) p.(Asn1402Ser) g.73960187T>C Copied from the Exome Variant Server KIAA2022_000016 7/10563 0/6728 7/3835 - - - - - - -
?/? c.4234C>T r.(?) p.(Arg1412Cys) g.73960158G>A Copied from the Exome Variant Server KIAA2022_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4235G>A r.(?) p.(Arg1412His) g.73960157C>T Copied from the Exome Variant Server KIAA2022_000014 2/10563 2/6728 0/3835 - - - - - - -
?/? c.4246C>T r.(?) p.(Pro1416Ser) g.73960146G>A Copied from the Exome Variant Server KIAA2022_000013 26/10563 26/6728 0/3835 - - - - - - -
?/? c.4325C>T r.(?) p.(Pro1442Leu) g.73960067G>A Copied from the Exome Variant Server KIAA2022_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4326G>A r.(=) p.(=) g.73960066C>T Copied from the Exome Variant Server KIAA2022_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.4338G>A r.(=) p.(=) g.73960054C>T Copied from the Exome Variant Server KIAA2022_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4383A>G r.(=) p.(=) g.73960009T>C Copied from the Exome Variant Server KIAA2022_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.4406G>A r.(?) p.(Arg1469Gln) g.73959986C>T Copied from the Exome Variant Server KIAA2022_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.4414G>A r.(?) p.(Val1472Ile) g.73959978C>T Copied from the Exome Variant Server KIAA2022_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.4422G>A r.(=) p.(=) g.73959970C>T Copied from the Exome Variant Server KIAA2022_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.4449A>G r.(=) p.(=) g.73959943T>C Copied from the Exome Variant Server KIAA2022_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.4458-47A>G r.(=) p.(=) g.73959380T>C Copied from the Exome Variant Server KIAA2022_000004 3/10544 3/6718 0/3826 - - - - - - -
?/? c.4467C>T r.(=) p.(=) g.73959324G>A Copied from the Exome Variant Server KIAA2022_000003 1/10560 0/6727 1/3833 - - - - - - -
?/? c.4493C>A r.(?) p.(Thr1498Asn) g.73959298G>T Copied from the Exome Variant Server KIAA2022_000002 1/10561 1/6728 0/3833 - - - - - - -
?/? c.4509T>C r.(=) p.(=) g.73959282A>G Copied from the Exome Variant Server KIAA2022_000001 12/10561 10/6728 2/3833 - - - - - - -
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