|
NM_001018016.2:c.526G>A
|
NP_001018016.1:p.Val176Ile
|
|
NM_001018016.3:c.526G>A
|
NP_001018016.1:p.Val176Ile
|
|
NM_001018017.2:c.499G>A
|
NP_001018017.1:p.Val167Ile
|
|
NM_001018017.3:c.499G>A
|
NP_001018017.1:p.Val167Ile
|
|
NM_001044390.2:c.343G>A
|
NP_001037855.1:p.Val115Ile
|
|
NM_001044390.3:c.343G>A
|
NP_001037855.1:p.Val115Ile
|
|
NM_001044391.2:c.229-125G>A
|
NP_001037856.1:n.229-125G>A
|
|
NM_001044391.3:c.229-125G>A
|
NP_001037856.1:n.229-125G>A
|
|
NM_001044392.2:c.256-125G>A
|
NP_001037857.1:n.256-125G>A
|
|
NM_001044392.3:c.256-125G>A
|
NP_001037857.1:n.256-125G>A
|
|
NM_001044393.2:c.311G>A
|
NP_001037858.1:p.Gly104Asp
|
|
NM_001044393.3:c.311G>A
|
NP_001037858.1:p.Gly104Asp
|
|
NM_001204285.1:c.1159G>A
|
NP_001191214.1:p.Val387Ile
|
|
NM_001204285.2:c.1159G>A
|
NP_001191214.1:p.Val387Ile
|
|
NM_001204286.1:c.1186G>A
|
NP_001191215.1:p.Val396Ile
|
|
NM_001204287.1:c.580G>A
|
NP_001191216.1:p.Val194Ile
|
|
NM_001204287.2:c.580G>A
|
NP_001191216.1:p.Val194Ile
|
|
NM_001204288.1:c.494G>A
|
NP_001191217.1:p.Gly165Asp
|
|
NM_001204288.2:c.494G>A
|
NP_001191217.1:p.Gly165Asp
|
|
NM_001204289.1:c.448G>A
|
NP_001191218.1:p.Val150Ile
|
|
NM_001204289.2:c.448G>A
|
NP_001191218.1:p.Val150Ile
|
|
NM_001204290.1:c.385G>A
|
NP_001191219.1:p.Val129Ile
|
|
NM_001204290.2:c.385G>A
|
NP_001191219.1:p.Val129Ile
|
|
NM_001204291.1:c.457G>A
|
NP_001191220.1:p.Val153Ile
|
|
NM_001204292.1:c.451G>A
|
NP_001191221.1:p.Val151Ile
|
|
NM_001204293.1:c.476-125G>A
|
NP_001191222.1:n.476-125G>A
|
|
NM_001204293.2:c.476-125G>A
|
NP_001191222.1:n.476-125G>A
|
|
NM_001204294.1:c.424G>A
|
NP_001191223.1:p.Val142Ile
|
|
NM_001204294.2:c.424G>A
|
NP_001191223.1:p.Val142Ile
|
|
NM_001204295.1:c.301G>A
|
NP_001191224.1:p.Val101Ile
|
|
NM_001204296.1:c.370G>A
|
NP_001191225.1:p.Val124Ile
|
|
NM_001204296.2:c.370G>A
|
NP_001191225.1:p.Val124Ile
|
|
NM_001204297.1:c.310-125G>A
|
NP_001191226.1:n.310-125G>A
|
|
NM_001204297.2:c.310-125G>A
|
NP_001191226.1:n.310-125G>A
|
|
NM_001371720.1:c.3424G>A
|
NP_001358649.1:p.Val1142Ile
|
|
NM_002456.5:c.553G>A
|
NP_002447.4:p.Val185Ile
|
|
NM_002456.6:c.553G>A
|
NP_002447.4:p.Val185Ile
|
|
ENST00000337604.6:c.553G>A
|
ENSP00000338983.5:p.Val185Ile
|
|
ENST00000338684.9:c.457G>A
|
ENSP00000343482.6:p.Val153Ile
|
|
ENST00000342482.8:c.232G>A
|
ENSP00000342814.4:p.Val78Ile
|
|
ENST00000343256.9:c.343G>A
|
ENSP00000339690.5:p.Val115Ile
|
|
ENST00000368389.6:c.283-125G>A
|
ENSP00000357374.2:n.283-125G>A
|
|
ENST00000368390.7:c.499G>A
|
ENSP00000357375.3:p.Val167Ile
|
|
ENST00000368392.7:c.526G>A
|
ENSP00000357377.3:p.Val176Ile
|
|
ENST00000368393.7:c.476-125G>A
|
ENSP00000357378.3:n.476-125G>A
|
|
ENST00000368396.8:c.256-125G>A
|
ENSP00000357381.4:n.256-125G>A
|
|
ENST00000368398.7:c.424G>A
|
ENSP00000357383.3:p.Val142Ile
|
|
ENST00000438413.5:c.421G>A
|
ENSP00000389098.1:p.Val141Ile
|
|
ENST00000457295.6:c.580G>A
|
ENSP00000388172.3:p.Val194Ile
|
|
ENST00000462215.5:c.*275G>A
|
ENSP00000480335.1:n.*275G>A
|
|
ENST00000462317.5:c.460G>A
|
ENSP00000479471.1:p.Val154Ile
|
|
ENST00000467134.5:c.*71G>A
|
ENSP00000484006.1:n.*71G>A
|
|
ENST00000468978.2:n.188G>A
|
|
|
ENST00000471283.5:c.330G>A
|
ENSP00000484730.1:p.Trp110Ter
|
|
ENST00000485118.5:c.92G>A
|
ENSP00000478068.1:p.Gly31Asp
|
|
ENST00000498431.5:c.*71G>A
|
ENSP00000483128.1:n.*71G>A
|
|
ENST00000610359.4:c.451G>A
|
ENSP00000483482.1:p.Val151Ile
|
|
ENST00000610468.4:c.*275G>A
|
ENSP00000482688.1:n.*275G>A
|
|
ENST00000611571.4:c.3520G>A
|
ENSP00000480333.1:p.Val1174Ile
|
|
ENST00000611577.4:c.373G>A
|
ENSP00000483581.1:p.Val125Ile
|
|
ENST00000612778.4:c.1186G>A
|
ENSP00000484824.1:p.Val396Ile
|
|
ENST00000614519.4:c.*71G>A
|
ENSP00000482988.1:n.*71G>A
|
|
ENST00000615517.4:c.301G>A
|
ENSP00000483473.1:p.Val101Ile
|
|
ENST00000620103.4:c.1159G>A
|
ENSP00000481231.1:p.Val387Ile
|
