Full data view for gene ITGB1BP2

Information The variants shown are described using the NM_012278.1 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-13A>G r.(=) p.(=) g.70521644A>G Copied from the Exome Variant Server ITGB1BP2_000001 11/10563 8/6728 3/3835 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.70521695C>T Copied from the Exome Variant Server ITGB1BP2_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.64+30G>T r.(=) p.(=) g.70521750G>T Copied from the Exome Variant Server ITGB1BP2_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.114+3_114+5del r.spl? p.? g.70522039_70522041del Copied from the Exome Variant Server ITGB1BP2_000007 5/10205 1/6484 4/3721 - - - - - - -
?/? c.115-43T>G r.(=) p.(=) g.70522084T>G Copied from the Exome Variant Server ITGB1BP2_000002 7/10563 0/6728 7/3835 - - - - - - -
?/? c.115-3C>T r.spl? p.? g.70522124C>T Copied from the Exome Variant Server ITGB1BP2_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.137G>A r.(?) p.(Arg46Gln) g.70522149G>A Copied from the Exome Variant Server ITGB1BP2_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.164_165insTT r.(?) p.(Ile56Serfs*36) g.70522176_70522177insTT Copied from the Exome Variant Server ITGB1BP2_000008 2/10205 0/6484 2/3721 - - - - - - -
?/? c.171+34A>G r.(=) p.(=) g.70522217A>G Copied from the Exome Variant Server ITGB1BP2_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.233C>T r.(?) p.(Pro78Leu) g.70522322C>T Copied from the Exome Variant Server ITGB1BP2_000010 13/10563 0/6728 13/3835 - - - - - - -
?/? c.294G>C r.(?) p.(Glu98Asp) g.70522383G>C Copied from the Exome Variant Server ITGB1BP2_000011 2/10563 1/6728 1/3835 - - - - - - -
?/? c.301C>T r.(?) p.(Arg101Cys) g.70522390C>T Copied from the Exome Variant Server ITGB1BP2_000012 1/10562 0/6727 1/3835 - - - - - - -
?/? c.304C>T r.(?) p.(Arg102Trp) g.70522393C>T Copied from the Exome Variant Server ITGB1BP2_000013 1/10562 0/6727 1/3835 - - - - - - -
?/? c.317+11G>T r.(=) p.(=) g.70522417G>T Copied from the Exome Variant Server ITGB1BP2_000014 36/10555 0/6724 36/3831 - - - - - - -
?/? c.317+13A>C r.(=) p.(=) g.70522419A>C Copied from the Exome Variant Server ITGB1BP2_000015 1/10552 1/6722 0/3830 - - - - - - -
?/? c.317+14G>C r.(=) p.(=) g.70522420G>C Copied from the Exome Variant Server ITGB1BP2_000016 1/10552 1/6722 0/3830 - - - - - - -
?/? c.318-48C>T r.(=) p.(=) g.70523064C>T Copied from the Exome Variant Server ITGB1BP2_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.318-36A>C r.(=) p.(=) g.70523076A>C Copied from the Exome Variant Server ITGB1BP2_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.344C>T r.(?) p.(Pro115Leu) g.70523138C>T Copied from the Exome Variant Server ITGB1BP2_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.413-43G>C r.(=) p.(=) g.70523268G>C Copied from the Exome Variant Server ITGB1BP2_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.413-35A>T r.(=) p.(=) g.70523276A>T Copied from the Exome Variant Server ITGB1BP2_000021 728/10563 665/6728 63/3835 - - - - - - -
?/? c.413-28A>C r.(=) p.(=) g.70523283A>C Copied from the Exome Variant Server ITGB1BP2_000022 3/10563 3/6728 0/3835 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Trp) g.70523328C>T Copied from the Exome Variant Server ITGB1BP2_000023 2/10563 1/6728 1/3835 - - - - - - -
?/? c.468+50G>T r.(=) p.(=) g.70523416G>T Copied from the Exome Variant Server ITGB1BP2_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.469-15C>T r.(=) p.(=) g.70523462C>T Copied from the Exome Variant Server ITGB1BP2_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.510C>A r.(?) p.(Tyr170*) g.70523518C>A Copied from the Exome Variant Server ITGB1BP2_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.527G>A r.(?) p.(Arg176Gln) g.70523535G>A Copied from the Exome Variant Server ITGB1BP2_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.539+21_539+28del r.(=) p.(=) g.70523568_70523575del Copied from the Exome Variant Server ITGB1BP2_000028 26/10201 16/6482 10/3719 - - - - - - -
?/? c.539+33A>G r.(=) p.(=) g.70523580A>G Copied from the Exome Variant Server ITGB1BP2_000029 69/10561 0/6726 69/3835 - - - - - - -
?/? c.540-32G>A r.(=) p.(=) g.70523630G>A Copied from the Exome Variant Server ITGB1BP2_000030 3/10563 0/6728 3/3835 - - - - - - -
?/? c.540-8T>C r.(=) p.(=) g.70523654T>C Copied from the Exome Variant Server ITGB1BP2_000031 1/10562 0/6727 1/3835 - - - - - - -
?/? c.634A>T r.(?) p.(Lys212*) g.70523756A>T Copied from the Exome Variant Server ITGB1BP2_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.678T>C r.(=) p.(=) g.70524075T>C Copied from the Exome Variant Server ITGB1BP2_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.753+1G>A r.spl? p.? g.70524151G>A Copied from the Exome Variant Server ITGB1BP2_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.758A>G r.(?) p.(His253Arg) g.70524396A>G Copied from the Exome Variant Server ITGB1BP2_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.779G>A r.(?) p.(Gly260Asp) g.70524417G>A Copied from the Exome Variant Server ITGB1BP2_000036 1/10562 0/6727 1/3835 - - - - - - -
?/? c.825C>G r.(?) p.(Asn275Lys) g.70524823C>G Copied from the Exome Variant Server ITGB1BP2_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.923C>G r.(?) p.(Ala308Gly) g.70524921C>G Copied from the Exome Variant Server ITGB1BP2_000038 2/10563 0/6728 2/3835 - - - - - - -
?/? c.955T>C r.(=) p.(=) g.70524953T>C Copied from the Exome Variant Server ITGB1BP2_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.982G>A r.(?) p.(Asp328Asn) g.70524980G>A Copied from the Exome Variant Server ITGB1BP2_000040 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1036G>C r.(?) p.(Gly346Arg) g.70525034G>C Copied from the Exome Variant Server ITGB1BP2_000041 2/10562 0/6728 2/3834 - - - - - - -
?/? c.*36A>G r.(=) p.(=) g.70525078A>G Copied from the Exome Variant Server ITGB1BP2_000042 5/10556 4/6724 1/3832 - - - - - - -
?/? c.*47A>G r.(=) p.(=) g.70525089A>G Copied from the Exome Variant Server ITGB1BP2_000043 1/10541 1/6713 0/3828 - - - - - - -
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