Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663528C>ACA338122408CAMTA1c.981C>A (p.Asn327Lys)
c.*832C>A (n.*832C>A)
c.891C>A (p.Asn297Lys)
c.909C>A (p.Asn303Lys)
c.*750C>A (n.*750C>A)
c.969C>A (p.Asn323Lys)
1g.7663528C=CA1139990301CAMTA1c.981C= (p.Asn327=)
c.*832C= (n.*832C=)
c.891C= (p.Asn297=)
c.909C= (p.Asn303=)
c.*750C= (n.*750C=)
c.969C= (p.Asn323=)
1g.7663528C>GCA338122407CAMTA1c.981C>G (p.Asn327Lys)
c.*832C>G (n.*832C>G)
c.891C>G (p.Asn297Lys)
c.909C>G (p.Asn303Lys)
c.*750C>G (n.*750C>G)
c.969C>G (p.Asn323Lys)
gnomAD v4
1g.7663528C>TCA152136CAMTA1c.981C>T (p.Asn327=)
c.*832C>T (n.*832C>T)
c.891C>T (p.Asn297=)
c.909C>T (p.Asn303=)
c.*750C>T (n.*750C>T)
c.969C>T (p.Asn323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663529G>ACA566343CAMTA1c.982G>A (p.Gly328Ser)
c.*833G>A (n.*833G>A)
c.892G>A (p.Gly298Ser)
c.910G>A (p.Gly304Ser)
c.*751G>A (n.*751G>A)
c.970G>A (p.Gly324Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.7663529G>CCA566344CAMTA1c.982G>C (p.Gly328Arg)
c.*833G>C (n.*833G>C)
c.892G>C (p.Gly298Arg)
c.910G>C (p.Gly304Arg)
c.*751G>C (n.*751G>C)
c.970G>C (p.Gly324Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663529G=CA1143486532CAMTA1c.982G= (p.Gly328=)
c.*833G= (n.*833G=)
c.892G= (p.Gly298=)
c.910G= (p.Gly304=)
c.*751G= (n.*751G=)
c.970G= (p.Gly324=)
1g.7663529G>TCA338122415CAMTA1c.982G>T (p.Gly328Cys)
c.*833G>T (n.*833G>T)
c.892G>T (p.Gly298Cys)
c.910G>T (p.Gly304Cys)
c.*751G>T (n.*751G>T)
c.970G>T (p.Gly324Cys)
1g.7663530G>ACA338122417CAMTA1c.983G>A (p.Gly328Asp)
c.*834G>A (n.*834G>A)
c.893G>A (p.Gly298Asp)
c.911G>A (p.Gly304Asp)
c.*752G>A (n.*752G>A)
c.971G>A (p.Gly324Asp)
gnomAD v4
1g.7663530G>CCA338122421CAMTA1c.983G>C (p.Gly328Ala)
c.*834G>C (n.*834G>C)
c.893G>C (p.Gly298Ala)
c.911G>C (p.Gly304Ala)
c.*752G>C (n.*752G>C)
c.971G>C (p.Gly324Ala)
1g.7663530G>TCA338122424CAMTA1c.983G>T (p.Gly328Val)
c.*834G>T (n.*834G>T)
c.893G>T (p.Gly298Val)
c.911G>T (p.Gly304Val)
c.*752G>T (n.*752G>T)
c.971G>T (p.Gly324Val)
1g.7663531C>ACA416026415CAMTA1c.984C>A (p.Gly328=)
c.*835C>A (n.*835C>A)
c.894C>A (p.Gly298=)
c.912C>A (p.Gly304=)
c.*753C>A (n.*753C>A)
c.972C>A (p.Gly324=)
1g.7663531C>GCA416026416CAMTA1c.984C>G (p.Gly328=)
c.*835C>G (n.*835C>G)
c.894C>G (p.Gly298=)
c.912C>G (p.Gly304=)
c.*753C>G (n.*753C>G)
c.972C>G (p.Gly324=)
1g.7663531C>TCA416026417CAMTA1c.984C>T (p.Gly328=)
c.*835C>T (n.*835C>T)
c.894C>T (p.Gly298=)
c.912C>T (p.Gly304=)
c.*753C>T (n.*753C>T)
c.972C>T (p.Gly324=)
1g.7663532A>CCA338122426CAMTA1c.985A>C (p.Lys329Gln)
c.*836A>C (n.*836A>C)
c.895A>C (p.Lys299Gln)
c.913A>C (p.Lys305Gln)
c.*754A>C (n.*754A>C)
c.973A>C (p.Lys325Gln)
1g.7663532A>GCA338122437CAMTA1c.985A>G (p.Lys329Glu)
c.*836A>G (n.*836A>G)
c.895A>G (p.Lys299Glu)
c.913A>G (p.Lys305Glu)
c.*754A>G (n.*754A>G)
c.973A>G (p.Lys325Glu)
1g.7663532A>TCA338122429CAMTA1c.985A>T (p.Lys329Ter)
c.*836A>T (n.*836A>T)
c.895A>T (p.Lys299Ter)
c.913A>T (p.Lys305Ter)
c.*754A>T (n.*754A>T)
c.973A>T (p.Lys325Ter)
1g.7663533A=CA1142407558CAMTA1c.986A= (p.Lys329=)
c.*837A= (n.*837A=)
c.896A= (p.Lys299=)
c.914A= (p.Lys305=)
c.*755A= (n.*755A=)
c.974A= (p.Lys325=)
1g.7663533A>CCA338122440CAMTA1c.986A>C (p.Lys329Thr)
c.*837A>C (n.*837A>C)
c.896A>C (p.Lys299Thr)
c.914A>C (p.Lys305Thr)
c.*755A>C (n.*755A>C)
c.974A>C (p.Lys325Thr)
1g.7663533A>GCA566345CAMTA1c.986A>G (p.Lys329Arg)
c.*837A>G (n.*837A>G)
c.896A>G (p.Lys299Arg)
c.914A>G (p.Lys305Arg)
c.*755A>G (n.*755A>G)
c.974A>G (p.Lys325Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663533A>TCA338122444CAMTA1c.986A>T (p.Lys329Met)
c.*837A>T (n.*837A>T)
c.896A>T (p.Lys299Met)
c.914A>T (p.Lys305Met)
c.*755A>T (n.*755A>T)
c.974A>T (p.Lys325Met)
1g.7663534G>ACA416026418CAMTA1c.987G>A (p.Lys329=)
c.*838G>A (n.*838G>A)
c.897G>A (p.Lys299=)
c.915G>A (p.Lys305=)
c.*756G>A (n.*756G>A)
c.975G>A (p.Lys325=)
1g.7663534G>CCA338122447CAMTA1c.987G>C (p.Lys329Asn)
c.*838G>C (n.*838G>C)
c.897G>C (p.Lys299Asn)
c.915G>C (p.Lys305Asn)
c.*756G>C (n.*756G>C)
c.975G>C (p.Lys325Asn)
1g.7663534G>TCA338122448CAMTA1c.987G>T (p.Lys329Asn)
c.*838G>T (n.*838G>T)
c.897G>T (p.Lys299Asn)
c.915G>T (p.Lys305Asn)
c.*756G>T (n.*756G>T)
c.975G>T (p.Lys325Asn)
1g.7663535G>ACA338122449CAMTA1c.988G>A (p.Val330Met)
c.*839G>A (n.*839G>A)
c.898G>A (p.Val300Met)
c.916G>A (p.Val306Met)
c.*757G>A (n.*757G>A)
c.976G>A (p.Val326Met)
1g.7663535G>CCA338122451CAMTA1c.988G>C (p.Val330Leu)
c.*839G>C (n.*839G>C)
c.898G>C (p.Val300Leu)
c.916G>C (p.Val306Leu)
c.*757G>C (n.*757G>C)
c.976G>C (p.Val326Leu)
1g.7663535G>TCA338122452CAMTA1c.988G>T (p.Val330Leu)
c.*839G>T (n.*839G>T)
c.898G>T (p.Val300Leu)
c.916G>T (p.Val306Leu)
c.*757G>T (n.*757G>T)
c.976G>T (p.Val326Leu)
gnomAD v4
1g.7663536T>ACA338122453CAMTA1c.989T>A (p.Val330Glu)
c.*840T>A (n.*840T>A)
c.899T>A (p.Val300Glu)
c.917T>A (p.Val306Glu)
c.*758T>A (n.*758T>A)
c.977T>A (p.Val326Glu)
1g.7663536T>CCA338122455CAMTA1c.989T>C (p.Val330Ala)
c.*840T>C (n.*840T>C)
c.899T>C (p.Val300Ala)
c.917T>C (p.Val306Ala)
c.*758T>C (n.*758T>C)
c.977T>C (p.Val326Ala)
1g.7663536T>GCA566346CAMTA1c.989T>G (p.Val330Gly)
c.*840T>G (n.*840T>G)
c.899T>G (p.Val300Gly)
c.917T>G (p.Val306Gly)
c.*758T>G (n.*758T>G)
c.977T>G (p.Val326Gly)
dbSNP ExAC gnomAD v2
1g.7663536T=CA1152023657CAMTA1c.989T= (p.Val330=)
c.*840T= (n.*840T=)
c.899T= (p.Val300=)
c.917T= (p.Val306=)
c.*758T= (n.*758T=)
c.977T= (p.Val326=)
1g.7663537G>ACA566347CAMTA1c.990G>A (p.Val330=)
c.*841G>A (n.*841G>A)
c.900G>A (p.Val300=)
c.918G>A (p.Val306=)
c.*759G>A (n.*759G>A)
c.978G>A (p.Val326=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663537G>CCA416026419CAMTA1c.990G>C (p.Val330=)
c.*841G>C (n.*841G>C)
c.900G>C (p.Val300=)
c.918G>C (p.Val306=)
c.*759G>C (n.*759G>C)
c.978G>C (p.Val326=)
1g.7663537G=CA1152023658CAMTA1c.990G= (p.Val330=)
c.*841G= (n.*841G=)
c.900G= (p.Val300=)
c.918G= (p.Val306=)
c.*759G= (n.*759G=)
c.978G= (p.Val326=)
1g.7663537G>TCA416026420CAMTA1c.990G>T (p.Val330=)
c.*841G>T (n.*841G>T)
c.900G>T (p.Val300=)
c.918G>T (p.Val306=)
c.*759G>T (n.*759G>T)
c.978G>T (p.Val326=)
1g.7663538G>ACA338122459CAMTA1c.991G>A (p.Ala331Thr)
c.*842G>A (n.*842G>A)
c.901G>A (p.Ala301Thr)
c.919G>A (p.Ala307Thr)
c.*760G>A (n.*760G>A)
c.979G>A (p.Ala327Thr)
1g.7663538G>CCA338122464CAMTA1c.991G>C (p.Ala331Pro)
c.*842G>C (n.*842G>C)
c.901G>C (p.Ala301Pro)
c.919G>C (p.Ala307Pro)
c.*760G>C (n.*760G>C)
c.979G>C (p.Ala327Pro)
1g.7663538G>TCA338122461CAMTA1c.991G>T (p.Ala331Ser)
c.*842G>T (n.*842G>T)
c.901G>T (p.Ala301Ser)
c.919G>T (p.Ala307Ser)
c.*760G>T (n.*760G>T)
c.979G>T (p.Ala327Ser)
1g.7663539C>ACA338122466CAMTA1c.992C>A (p.Ala331Asp)
c.*843C>A (n.*843C>A)
c.902C>A (p.Ala301Asp)
c.920C>A (p.Ala307Asp)
c.*761C>A (n.*761C>A)
c.980C>A (p.Ala327Asp)
1g.7663539C>GCA338122468CAMTA1c.992C>G (p.Ala331Gly)
c.*843C>G (n.*843C>G)
c.902C>G (p.Ala301Gly)
c.920C>G (p.Ala307Gly)
c.*761C>G (n.*761C>G)
c.980C>G (p.Ala327Gly)
1g.7663539C>TCA338122467CAMTA1c.992C>T (p.Ala331Val)
c.*843C>T (n.*843C>T)
c.902C>T (p.Ala301Val)
c.920C>T (p.Ala307Val)
c.*761C>T (n.*761C>T)
c.980C>T (p.Ala327Val)
gnomAD v4
1g.7663540C>ACA416026423CAMTA1c.993C>A (p.Ala331=)
c.*844C>A (n.*844C>A)
c.903C>A (p.Ala301=)
c.921C>A (p.Ala307=)
c.*762C>A (n.*762C>A)
c.981C>A (p.Ala327=)
1g.7663540C>GCA416026421CAMTA1c.993C>G (p.Ala331=)
c.*844C>G (n.*844C>G)
c.903C>G (p.Ala301=)
c.921C>G (p.Ala307=)
c.*762C>G (n.*762C>G)
c.981C>G (p.Ala327=)
1g.7663540C>TCA416026422CAMTA1c.993C>T (p.Ala331=)
c.*844C>T (n.*844C>T)
c.903C>T (p.Ala301=)
c.921C>T (p.Ala307=)
c.*762C>T (n.*762C>T)
c.981C>T (p.Ala327=)
1g.7663541A>CCA338122469CAMTA1c.994A>C (p.Lys332Gln)
c.*845A>C (n.*845A>C)
c.904A>C (p.Lys302Gln)
c.922A>C (p.Lys308Gln)
c.*763A>C (n.*763A>C)
c.982A>C (p.Lys328Gln)
1g.7663541A>GCA338122472CAMTA1c.994A>G (p.Lys332Glu)
c.*845A>G (n.*845A>G)
c.904A>G (p.Lys302Glu)
c.922A>G (p.Lys308Glu)
c.*763A>G (n.*763A>G)
c.982A>G (p.Lys328Glu)
1g.7663541A>TCA338122470CAMTA1c.994A>T (p.Lys332Ter)
c.*845A>T (n.*845A>T)
c.904A>T (p.Lys302Ter)
c.922A>T (p.Lys308Ter)
c.*763A>T (n.*763A>T)
c.982A>T (p.Lys328Ter)
1g.7663542A>CCA338122475CAMTA1c.995A>C (p.Lys332Thr)
c.*846A>C (n.*846A>C)
c.905A>C (p.Lys302Thr)
c.923A>C (p.Lys308Thr)
c.*764A>C (n.*764A>C)
c.983A>C (p.Lys328Thr)
1g.7663542A>GCA338122481CAMTA1c.995A>G (p.Lys332Arg)
c.*846A>G (n.*846A>G)
c.905A>G (p.Lys302Arg)
c.923A>G (p.Lys308Arg)
c.*764A>G (n.*764A>G)
c.983A>G (p.Lys328Arg)
1g.7663542A>TCA338122483CAMTA1c.995A>T (p.Lys332Met)
c.*846A>T (n.*846A>T)
c.905A>T (p.Lys302Met)
c.923A>T (p.Lys308Met)
c.*764A>T (n.*764A>T)
c.983A>T (p.Lys328Met)
1g.7663543G>ACA416026424CAMTA1c.996G>A (p.Lys332=)
c.*847G>A (n.*847G>A)
c.906G>A (p.Lys302=)
c.924G>A (p.Lys308=)
c.*765G>A (n.*765G>A)
c.984G>A (p.Lys328=)
1g.7663543G>CCA338122486CAMTA1c.996G>C (p.Lys332Asn)
c.*847G>C (n.*847G>C)
c.906G>C (p.Lys302Asn)
c.924G>C (p.Lys308Asn)
c.*765G>C (n.*765G>C)
c.984G>C (p.Lys328Asn)
1g.7663543G>TCA338122488CAMTA1c.996G>T (p.Lys332Asn)
c.*847G>T (n.*847G>T)
c.906G>T (p.Lys302Asn)
c.924G>T (p.Lys308Asn)
c.*765G>T (n.*765G>T)
c.984G>T (p.Lys328Asn)
1g.7663544C>ACA338122491CAMTA1c.997C>A (p.Pro333Thr)
c.*848C>A (n.*848C>A)
c.907C>A (p.Pro303Thr)
c.925C>A (p.Pro309Thr)
c.*766C>A (n.*766C>A)
c.985C>A (p.Pro329Thr)
dbSNP gnomAD v2 gnomAD v4
1g.7663544C=CA1152023659CAMTA1c.997C= (p.Pro333=)
c.*848C= (n.*848C=)
c.907C= (p.Pro303=)
c.925C= (p.Pro309=)
c.*766C= (n.*766C=)
c.985C= (p.Pro329=)
1g.7663544C>GCA338122494CAMTA1c.997C>G (p.Pro333Ala)
c.*848C>G (n.*848C>G)
c.907C>G (p.Pro303Ala)
c.925C>G (p.Pro309Ala)
c.*766C>G (n.*766C>G)
c.985C>G (p.Pro329Ala)
1g.7663544C>TCA338122495CAMTA1c.997C>T (p.Pro333Ser)
c.*848C>T (n.*848C>T)
c.907C>T (p.Pro303Ser)
c.925C>T (p.Pro309Ser)
c.*766C>T (n.*766C>T)
c.985C>T (p.Pro329Ser)
dbSNP gnomAD v4
1g.7663545C>ACA338122498CAMTA1c.998C>A (p.Pro333His)
c.*849C>A (n.*849C>A)
c.908C>A (p.Pro303His)
c.926C>A (p.Pro309His)
c.*767C>A (n.*767C>A)
c.986C>A (p.Pro329His)
1g.7663545C>GCA338122500CAMTA1c.998C>G (p.Pro333Arg)
c.*849C>G (n.*849C>G)
c.908C>G (p.Pro303Arg)
c.926C>G (p.Pro309Arg)
c.*767C>G (n.*767C>G)
c.986C>G (p.Pro329Arg)
1g.7663545C>TCA338122502CAMTA1c.998C>T (p.Pro333Leu)
c.*849C>T (n.*849C>T)
c.908C>T (p.Pro303Leu)
c.926C>T (p.Pro309Leu)
c.*767C>T (n.*767C>T)
c.986C>T (p.Pro329Leu)
1g.7663546C>ACA416026425CAMTA1c.999C>A (p.Pro333=)
c.*850C>A (n.*850C>A)
c.909C>A (p.Pro303=)
c.927C>A (p.Pro309=)
c.*768C>A (n.*768C>A)
c.987C>A (p.Pro329=)
1g.7663546C=CA1152023660CAMTA1c.999C= (p.Pro333=)
c.*850C= (n.*850C=)
c.909C= (p.Pro303=)
c.927C= (p.Pro309=)
c.*768C= (n.*768C=)
c.987C= (p.Pro329=)
1g.7663546C>GCA416026426CAMTA1c.999C>G (p.Pro333=)
c.*850C>G (n.*850C>G)
c.909C>G (p.Pro303=)
c.927C>G (p.Pro309=)
c.*768C>G (n.*768C>G)
c.987C>G (p.Pro329=)
dbSNP gnomAD v3 gnomAD v4
1g.7663546C>TCA566348CAMTA1c.999C>T (p.Pro333=)
c.*850C>T (n.*850C>T)
c.909C>T (p.Pro303=)
c.927C>T (p.Pro309=)
c.*768C>T (n.*768C>T)
c.987C>T (p.Pro329=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663547G>ACA566349CAMTA1c.1000G>A (p.Val334Met)
c.*851G>A (n.*851G>A)
c.910G>A (p.Val304Met)
c.928G>A (p.Val310Met)
c.*769G>A (n.*769G>A)
c.988G>A (p.Val330Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663547G>CCA338122509CAMTA1c.1000G>C (p.Val334Leu)
c.*851G>C (n.*851G>C)
c.910G>C (p.Val304Leu)
c.928G>C (p.Val310Leu)
c.*769G>C (n.*769G>C)
c.988G>C (p.Val330Leu)
1g.7663547G=CA1142127494CAMTA1c.1000G= (p.Val334=)
c.*851G= (n.*851G=)
c.910G= (p.Val304=)
c.928G= (p.Val310=)
c.*769G= (n.*769G=)
c.988G= (p.Val330=)
1g.7663547G>TCA338122508CAMTA1c.1000G>T (p.Val334Leu)
c.*851G>T (n.*851G>T)
c.910G>T (p.Val304Leu)
c.928G>T (p.Val310Leu)
c.*769G>T (n.*769G>T)
c.988G>T (p.Val330Leu)
1g.7663548T>ACA338122512CAMTA1c.1001T>A (p.Val334Glu)
c.*852T>A (n.*852T>A)
c.911T>A (p.Val304Glu)
c.929T>A (p.Val310Glu)
c.*770T>A (n.*770T>A)
c.989T>A (p.Val330Glu)
1g.7663548T>CCA338122513CAMTA1c.1001T>C (p.Val334Ala)
c.*852T>C (n.*852T>C)
c.911T>C (p.Val304Ala)
c.929T>C (p.Val310Ala)
c.*770T>C (n.*770T>C)
c.989T>C (p.Val330Ala)
dbSNP
1g.7663548T>GCA338122515CAMTA1c.1001T>G (p.Val334Gly)
c.*852T>G (n.*852T>G)
c.911T>G (p.Val304Gly)
c.929T>G (p.Val310Gly)
c.*770T>G (n.*770T>G)
c.989T>G (p.Val330Gly)
1g.7663549G>ACA416026427CAMTA1c.1002G>A (p.Val334=)
c.*853G>A (n.*853G>A)
c.912G>A (p.Val304=)
c.930G>A (p.Val310=)
c.*771G>A (n.*771G>A)
c.990G>A (p.Val330=)
gnomAD v4
1g.7663549G>CCA416026428CAMTA1c.1002G>C (p.Val334=)
c.*853G>C (n.*853G>C)
c.912G>C (p.Val304=)
c.930G>C (p.Val310=)
c.*771G>C (n.*771G>C)
c.990G>C (p.Val330=)
dbSNP gnomAD v3 gnomAD v4
1g.7663549G=CA1152023661CAMTA1c.1002G= (p.Val334=)
c.*853G= (n.*853G=)
c.912G= (p.Val304=)
c.930G= (p.Val310=)
c.*771G= (n.*771G=)
c.990G= (p.Val330=)
1g.7663549G>TCA416026429CAMTA1c.1002G>T (p.Val334=)
c.*853G>T (n.*853G>T)
c.912G>T (p.Val304=)
c.930G>T (p.Val310=)
c.*771G>T (n.*771G>T)
c.990G>T (p.Val330=)
1g.7663550C>ACA338122518CAMTA1c.1003C>A (p.Leu335Ile)
c.*854C>A (n.*854C>A)
c.913C>A (p.Leu305Ile)
c.931C>A (p.Leu311Ile)
c.*772C>A (n.*772C>A)
c.991C>A (p.Leu331Ile)
gnomAD v4
1g.7663550C>GCA338122520CAMTA1c.1003C>G (p.Leu335Val)
c.*854C>G (n.*854C>G)
c.913C>G (p.Leu305Val)
c.931C>G (p.Leu311Val)
c.*772C>G (n.*772C>G)
c.991C>G (p.Leu331Val)
1g.7663550C>TCA338122521CAMTA1c.1003C>T (p.Leu335Phe)
c.*854C>T (n.*854C>T)
c.913C>T (p.Leu305Phe)
c.931C>T (p.Leu311Phe)
c.*772C>T (n.*772C>T)
c.991C>T (p.Leu331Phe)
1g.7663551T>ACA338122525CAMTA1c.1004T>A (p.Leu335His)
c.*855T>A (n.*855T>A)
c.914T>A (p.Leu305His)
c.932T>A (p.Leu311His)
c.*773T>A (n.*773T>A)
c.992T>A (p.Leu331His)
1g.7663551T>CCA338122526CAMTA1c.1004T>C (p.Leu335Pro)
c.*855T>C (n.*855T>C)
c.914T>C (p.Leu305Pro)
c.932T>C (p.Leu311Pro)
c.*773T>C (n.*773T>C)
c.992T>C (p.Leu331Pro)
1g.7663551T>GCA338122528CAMTA1c.1004T>G (p.Leu335Arg)
c.*855T>G (n.*855T>G)
c.914T>G (p.Leu305Arg)
c.932T>G (p.Leu311Arg)
c.*773T>G (n.*773T>G)
c.992T>G (p.Leu331Arg)
1g.7663552C>ACA416026430CAMTA1c.1005C>A (p.Leu335=)
c.*856C>A (n.*856C>A)
c.915C>A (p.Leu305=)
c.933C>A (p.Leu311=)
c.*774C>A (n.*774C>A)
c.993C>A (p.Leu331=)
1g.7663552C=CA1152023662CAMTA1c.1005C= (p.Leu335=)
c.*856C= (n.*856C=)
c.915C= (p.Leu305=)
c.933C= (p.Leu311=)
c.*774C= (n.*774C=)
c.993C= (p.Leu331=)
1g.7663552C>GCA566350CAMTA1c.1005C>G (p.Leu335=)
c.*856C>G (n.*856C>G)
c.915C>G (p.Leu305=)
c.933C>G (p.Leu311=)
c.*774C>G (n.*774C>G)
c.993C>G (p.Leu331=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663552C>TCA416026431CAMTA1c.1005C>T (p.Leu335=)
c.*856C>T (n.*856C>T)
c.915C>T (p.Leu305=)
c.933C>T (p.Leu311=)
c.*774C>T (n.*774C>T)
c.993C>T (p.Leu331=)
dbSNP gnomAD v2 gnomAD v4
1g.7663553C>ACA338122535CAMTA1c.1006C>A (p.Leu336Met)
c.*857C>A (n.*857C>A)
c.916C>A (p.Leu306Met)
c.934C>A (p.Leu312Met)
c.*775C>A (n.*775C>A)
c.994C>A (p.Leu332Met)
1g.7663553C>GCA338122532CAMTA1c.1006C>G (p.Leu336Val)
c.*857C>G (n.*857C>G)
c.916C>G (p.Leu306Val)
c.934C>G (p.Leu312Val)
c.*775C>G (n.*775C>G)
c.994C>G (p.Leu332Val)
gnomAD v4
1g.7663553C>TCA416026432CAMTA1c.1006C>T (p.Leu336=)
c.*857C>T (n.*857C>T)
c.916C>T (p.Leu306=)
c.934C>T (p.Leu312=)
c.*775C>T (n.*775C>T)
c.994C>T (p.Leu332=)
gnomAD v4
1g.7663554T>ACA338122536CAMTA1c.1007T>A (p.Leu336Gln)
c.*858T>A (n.*858T>A)
c.917T>A (p.Leu306Gln)
c.935T>A (p.Leu312Gln)
c.*776T>A (n.*776T>A)
c.995T>A (p.Leu332Gln)
1g.7663554T>CCA338122538CAMTA1c.1007T>C (p.Leu336Pro)
c.*858T>C (n.*858T>C)
c.917T>C (p.Leu306Pro)
c.935T>C (p.Leu312Pro)
c.*776T>C (n.*776T>C)
c.995T>C (p.Leu332Pro)
1g.7663554T>GCA338122540CAMTA1c.1007T>G (p.Leu336Arg)
c.*858T>G (n.*858T>G)
c.917T>G (p.Leu306Arg)
c.935T>G (p.Leu312Arg)
c.*776T>G (n.*776T>G)
c.995T>G (p.Leu332Arg)
1g.7663555G>ACA566351CAMTA1c.1008G>A (p.Leu336=)
c.*859G>A (n.*859G>A)
c.918G>A (p.Leu306=)
c.936G>A (p.Leu312=)
c.*777G>A (n.*777G>A)
c.996G>A (p.Leu332=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663555G>CCA416026433CAMTA1c.1008G>C (p.Leu336=)
c.*859G>C (n.*859G>C)
c.918G>C (p.Leu306=)
c.936G>C (p.Leu312=)
c.*777G>C (n.*777G>C)
c.996G>C (p.Leu332=)
1g.7663555G=CA1152023663CAMTA1c.1008G= (p.Leu336=)
c.*859G= (n.*859G=)
c.918G= (p.Leu306=)
c.936G= (p.Leu312=)
c.*777G= (n.*777G=)
c.996G= (p.Leu332=)
1g.7663555G>TCA416026434CAMTA1c.1008G>T (p.Leu336=)
c.*859G>T (n.*859G>T)
c.918G>T (p.Leu306=)
c.936G>T (p.Leu312=)
c.*777G>T (n.*777G>T)
c.996G>T (p.Leu332=)
1g.7663556C>ACA338122544CAMTA1c.1009C>A (p.His337Asn)
c.*860C>A (n.*860C>A)
c.919C>A (p.His307Asn)
c.937C>A (p.His313Asn)
c.*778C>A (n.*778C>A)
c.997C>A (p.His333Asn)
1g.7663556C>GCA338122547CAMTA1c.1009C>G (p.His337Asp)
c.*860C>G (n.*860C>G)
c.919C>G (p.His307Asp)
c.937C>G (p.His313Asp)
c.*778C>G (n.*778C>G)
c.997C>G (p.His333Asp)
1g.7663556C>TCA338122549CAMTA1c.1009C>T (p.His337Tyr)
c.*860C>T (n.*860C>T)
c.919C>T (p.His307Tyr)
c.937C>T (p.His313Tyr)
c.*778C>T (n.*778C>T)
c.997C>T (p.His333Tyr)
1g.7663557A>CCA338122552CAMTA1c.1010A>C (p.His337Pro)
c.*861A>C (n.*861A>C)
c.920A>C (p.His307Pro)
c.938A>C (p.His313Pro)
c.*779A>C (n.*779A>C)
c.998A>C (p.His333Pro)
1g.7663557A>GCA338122555CAMTA1c.1010A>G (p.His337Arg)
c.*861A>G (n.*861A>G)
c.920A>G (p.His307Arg)
c.938A>G (p.His313Arg)
c.*779A>G (n.*779A>G)
c.998A>G (p.His333Arg)
1g.7663557A>TCA338122557CAMTA1c.1010A>T (p.His337Leu)
c.*861A>T (n.*861A>T)
c.920A>T (p.His307Leu)
c.938A>T (p.His313Leu)
c.*779A>T (n.*779A>T)
c.998A>T (p.His333Leu)
1g.7663558C>ACA338122559CAMTA1c.1011C>A (p.His337Gln)
c.*862C>A (n.*862C>A)
c.921C>A (p.His307Gln)
c.939C>A (p.His313Gln)
c.*780C>A (n.*780C>A)
c.999C>A (p.His333Gln)
dbSNP gnomAD v3 gnomAD v4
1g.7663558C>GCA338122563CAMTA1c.1011C>G (p.His337Gln)
c.*862C>G (n.*862C>G)
c.921C>G (p.His307Gln)
c.939C>G (p.His313Gln)
c.*780C>G (n.*780C>G)
c.999C>G (p.His333Gln)
1g.7663558C>TCA416026435CAMTA1c.1011C>T (p.His337=)
c.*862C>T (n.*862C>T)
c.921C>T (p.His307=)
c.939C>T (p.His313=)
c.*780C>T (n.*780C>T)
c.999C>T (p.His333=)
1g.7663559C>ACA338122572CAMTA1c.1012C>A (p.Gln338Lys)
c.*863C>A (n.*863C>A)
c.922C>A (p.Gln308Lys)
c.940C>A (p.Gln314Lys)
c.*781C>A (n.*781C>A)
c.1000C>A (p.Gln334Lys)
1g.7663559C>GCA338122573CAMTA1c.1012C>G (p.Gln338Glu)
c.*863C>G (n.*863C>G)
c.922C>G (p.Gln308Glu)
c.940C>G (p.Gln314Glu)
c.*781C>G (n.*781C>G)
c.1000C>G (p.Gln334Glu)
1g.7663559C>TCA338122568CAMTA1c.1012C>T (p.Gln338Ter)
c.*863C>T (n.*863C>T)
c.922C>T (p.Gln308Ter)
c.940C>T (p.Gln314Ter)
c.*781C>T (n.*781C>T)
c.1000C>T (p.Gln334Ter)
1g.7663560A>CCA338122574CAMTA1c.1013A>C (p.Gln338Pro)
c.*864A>C (n.*864A>C)
c.923A>C (p.Gln308Pro)
c.941A>C (p.Gln314Pro)
c.*782A>C (n.*782A>C)
c.1001A>C (p.Gln334Pro)
1g.7663560A>GCA338122575CAMTA1c.1013A>G (p.Gln338Arg)
c.*864A>G (n.*864A>G)
c.923A>G (p.Gln308Arg)
c.941A>G (p.Gln314Arg)
c.*782A>G (n.*782A>G)
c.1001A>G (p.Gln334Arg)
1g.7663560A>TCA338122576CAMTA1c.1013A>T (p.Gln338Leu)
c.*864A>T (n.*864A>T)
c.923A>T (p.Gln308Leu)
c.941A>T (p.Gln314Leu)
c.*782A>T (n.*782A>T)
c.1001A>T (p.Gln334Leu)
1g.7663561G>ACA416026436CAMTA1c.1014G>A (p.Gln338=)
c.*865G>A (n.*865G>A)
c.924G>A (p.Gln308=)
c.942G>A (p.Gln314=)
c.*783G>A (n.*783G>A)
c.1002G>A (p.Gln334=)
1g.7663561G>CCA338122577CAMTA1c.1014G>C (p.Gln338His)
c.*865G>C (n.*865G>C)
c.924G>C (p.Gln308His)
c.942G>C (p.Gln314His)
c.*783G>C (n.*783G>C)
c.1002G>C (p.Gln334His)
dbSNP
1g.7663561G=CA1152023664CAMTA1c.1014G= (p.Gln338=)
c.*865G= (n.*865G=)
c.924G= (p.Gln308=)
c.942G= (p.Gln314=)
c.*783G= (n.*783G=)
c.1002G= (p.Gln334=)
1g.7663561G>TCA338122578CAMTA1c.1014G>T (p.Gln338His)
c.*865G>T (n.*865G>T)
c.924G>T (p.Gln308His)
c.942G>T (p.Gln314His)
c.*783G>T (n.*783G>T)
c.1002G>T (p.Gln334His)
1g.7663562A=CA1152023665CAMTA1c.1015A= (p.Ser339=)
c.*866A= (n.*866A=)
c.925A= (p.Ser309=)
c.943A= (p.Ser315=)
c.*784A= (n.*784A=)
c.1003A= (p.Ser335=)
1g.7663562A>CCA338122582CAMTA1c.1015A>C (p.Ser339Arg)
c.*866A>C (n.*866A>C)
c.925A>C (p.Ser309Arg)
c.943A>C (p.Ser315Arg)
c.*784A>C (n.*784A>C)
c.1003A>C (p.Ser335Arg)
1g.7663562A>GCA566352CAMTA1c.1015A>G (p.Ser339Gly)
c.*866A>G (n.*866A>G)
c.925A>G (p.Ser309Gly)
c.943A>G (p.Ser315Gly)
c.*784A>G (n.*784A>G)
c.1003A>G (p.Ser335Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663562A>TCA338122580CAMTA1c.1015A>T (p.Ser339Cys)
c.*866A>T (n.*866A>T)
c.925A>T (p.Ser309Cys)
c.943A>T (p.Ser315Cys)
c.*784A>T (n.*784A>T)
c.1003A>T (p.Ser335Cys)
1g.7663563G>ACA566354CAMTA1c.1016G>A (p.Ser339Asn)
c.*867G>A (n.*867G>A)
c.926G>A (p.Ser309Asn)
c.944G>A (p.Ser315Asn)
c.*785G>A (n.*785G>A)
c.1004G>A (p.Ser335Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663563G>CCA566353CAMTA1c.1016G>C (p.Ser339Thr)
c.*867G>C (n.*867G>C)
c.926G>C (p.Ser309Thr)
c.944G>C (p.Ser315Thr)
c.*785G>C (n.*785G>C)
c.1004G>C (p.Ser335Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663563G=CA1152023666CAMTA1c.1016G= (p.Ser339=)
c.*867G= (n.*867G=)
c.926G= (p.Ser309=)
c.944G= (p.Ser315=)
c.*785G= (n.*785G=)
c.1004G= (p.Ser335=)
1g.7663563G>TCA338122585CAMTA1c.1016G>T (p.Ser339Ile)
c.*867G>T (n.*867G>T)
c.926G>T (p.Ser309Ile)
c.944G>T (p.Ser315Ile)
c.*785G>T (n.*785G>T)
c.1004G>T (p.Ser335Ile)
1g.7663564C>ACA338122587CAMTA1c.1017C>A (p.Ser339Arg)
c.*868C>A (n.*868C>A)
c.927C>A (p.Ser309Arg)
c.945C>A (p.Ser315Arg)
c.*786C>A (n.*786C>A)
c.1005C>A (p.Ser335Arg)
1g.7663564C>GCA338122590CAMTA1c.1017C>G (p.Ser339Arg)
c.*868C>G (n.*868C>G)
c.927C>G (p.Ser309Arg)
c.945C>G (p.Ser315Arg)
c.*786C>G (n.*786C>G)
c.1005C>G (p.Ser335Arg)
1g.7663564C>TCA416026437CAMTA1c.1017C>T (p.Ser339=)
c.*868C>T (n.*868C>T)
c.927C>T (p.Ser309=)
c.945C>T (p.Ser315=)
c.*786C>T (n.*786C>T)
c.1005C>T (p.Ser335=)
1g.7663565A>CCA338122595CAMTA1c.1018A>C (p.Ser340Arg)
c.*869A>C (n.*869A>C)
c.928A>C (p.Ser310Arg)
c.946A>C (p.Ser316Arg)
c.*787A>C (n.*787A>C)
c.1006A>C (p.Ser336Arg)
1g.7663565A>GCA338122594CAMTA1c.1018A>G (p.Ser340Gly)
c.*869A>G (n.*869A>G)
c.928A>G (p.Ser310Gly)
c.946A>G (p.Ser316Gly)
c.*787A>G (n.*787A>G)
c.1006A>G (p.Ser336Gly)
1g.7663565A>TCA338122592CAMTA1c.1018A>T (p.Ser340Cys)
c.*869A>T (n.*869A>T)
c.928A>T (p.Ser310Cys)
c.946A>T (p.Ser316Cys)
c.*787A>T (n.*787A>T)
c.1006A>T (p.Ser336Cys)
1g.7663566G>ACA338122600CAMTA1c.1019G>A (p.Ser340Asn)
c.*870G>A (n.*870G>A)
c.929G>A (p.Ser310Asn)
c.947G>A (p.Ser316Asn)
c.*788G>A (n.*788G>A)
c.1007G>A (p.Ser336Asn)
1g.7663566G>CCA338122605CAMTA1c.1019G>C (p.Ser340Thr)
c.*870G>C (n.*870G>C)
c.929G>C (p.Ser310Thr)
c.947G>C (p.Ser316Thr)
c.*788G>C (n.*788G>C)
c.1007G>C (p.Ser336Thr)
1g.7663566G>TCA338122607CAMTA1c.1019G>T (p.Ser340Ile)
c.*870G>T (n.*870G>T)
c.929G>T (p.Ser310Ile)
c.947G>T (p.Ser316Ile)
c.*788G>T (n.*788G>T)
c.1007G>T (p.Ser336Ile)
1g.7663567C>ACA338122610CAMTA1c.1020C>A (p.Ser340Arg)
c.*871C>A (n.*871C>A)
c.930C>A (p.Ser310Arg)
c.948C>A (p.Ser316Arg)
c.*789C>A (n.*789C>A)
c.1008C>A (p.Ser336Arg)
1g.7663567C>GCA338122613CAMTA1c.1020C>G (p.Ser340Arg)
c.*871C>G (n.*871C>G)
c.930C>G (p.Ser310Arg)
c.948C>G (p.Ser316Arg)
c.*789C>G (n.*789C>G)
c.1008C>G (p.Ser336Arg)
1g.7663567C>TCA416026438CAMTA1c.1020C>T (p.Ser340=)
c.*871C>T (n.*871C>T)
c.930C>T (p.Ser310=)
c.948C>T (p.Ser316=)
c.*789C>T (n.*789C>T)
c.1008C>T (p.Ser336=)
1g.7663568A>CCA338122615CAMTA1c.1021A>C (p.Thr341Pro)
c.*872A>C (n.*872A>C)
c.931A>C (p.Thr311Pro)
c.949A>C (p.Thr317Pro)
c.*790A>C (n.*790A>C)
c.1009A>C (p.Thr337Pro)
1g.7663568A>GCA338122621CAMTA1c.1021A>G (p.Thr341Ala)
c.*872A>G (n.*872A>G)
c.931A>G (p.Thr311Ala)
c.949A>G (p.Thr317Ala)
c.*790A>G (n.*790A>G)
c.1009A>G (p.Thr337Ala)
1g.7663568A>TCA338122622CAMTA1c.1021A>T (p.Thr341Ser)
c.*872A>T (n.*872A>T)
c.931A>T (p.Thr311Ser)
c.949A>T (p.Thr317Ser)
c.*790A>T (n.*790A>T)
c.1009A>T (p.Thr337Ser)
1g.7663569C>ACA338122624CAMTA1c.1022C>A (p.Thr341Asn)
c.*873C>A (n.*873C>A)
c.932C>A (p.Thr311Asn)
c.950C>A (p.Thr317Asn)
c.*791C>A (n.*791C>A)
c.1010C>A (p.Thr337Asn)
gnomAD v4
1g.7663569C>GCA338122627CAMTA1c.1022C>G (p.Thr341Ser)
c.*873C>G (n.*873C>G)
c.932C>G (p.Thr311Ser)
c.950C>G (p.Thr317Ser)
c.*791C>G (n.*791C>G)
c.1010C>G (p.Thr337Ser)
1g.7663569C>TCA338122626CAMTA1c.1022C>T (p.Thr341Ile)
c.*873C>T (n.*873C>T)
c.932C>T (p.Thr311Ile)
c.950C>T (p.Thr317Ile)
c.*791C>T (n.*791C>T)
c.1010C>T (p.Thr337Ile)
1g.7663570C>ACA416026440CAMTA1c.1023C>A (p.Thr341=)
c.*874C>A (n.*874C>A)
c.933C>A (p.Thr311=)
c.951C>A (p.Thr317=)
c.*792C>A (n.*792C>A)
c.1011C>A (p.Thr337=)
1g.7663570C=CA1152023667CAMTA1c.1023C= (p.Thr341=)
c.*874C= (n.*874C=)
c.933C= (p.Thr311=)
c.951C= (p.Thr317=)
c.*792C= (n.*792C=)
c.1011C= (p.Thr337=)
1g.7663570C>GCA416026439CAMTA1c.1023C>G (p.Thr341=)
c.*874C>G (n.*874C>G)
c.933C>G (p.Thr311=)
c.951C>G (p.Thr317=)
c.*792C>G (n.*792C>G)
c.1011C>G (p.Thr337=)
1g.7663570C>TCA566355CAMTA1c.1023C>T (p.Thr341=)
c.*874C>T (n.*874C>T)
c.933C>T (p.Thr311=)
c.951C>T (p.Thr317=)
c.*792C>T (n.*792C>T)
c.1011C>T (p.Thr337=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663571G>ACA338122631CAMTA1c.1024G>A (p.Glu342Lys)
c.*875G>A (n.*875G>A)
c.934G>A (p.Glu312Lys)
c.952G>A (p.Glu318Lys)
c.*793G>A (n.*793G>A)
c.1012G>A (p.Glu338Lys)
ClinVar dbSNP gnomAD v4
1g.7663571G>CCA338122634CAMTA1c.1024G>C (p.Glu342Gln)
c.*875G>C (n.*875G>C)
c.934G>C (p.Glu312Gln)
c.952G>C (p.Glu318Gln)
c.*793G>C (n.*793G>C)
c.1012G>C (p.Glu338Gln)
1g.7663571G=CA1152023668CAMTA1c.1024G= (p.Glu342=)
c.*875G= (n.*875G=)
c.934G= (p.Glu312=)
c.952G= (p.Glu318=)
c.*793G= (n.*793G=)
c.1012G= (p.Glu338=)
1g.7663571G>TCA338122637CAMTA1c.1024G>T (p.Glu342Ter)
c.*875G>T (n.*875G>T)
c.934G>T (p.Glu312Ter)
c.952G>T (p.Glu318Ter)
c.*793G>T (n.*793G>T)
c.1012G>T (p.Glu338Ter)
dbSNP gnomAD v3 gnomAD v4
1g.7663572A>CCA338122640CAMTA1c.1025A>C (p.Glu342Ala)
c.*876A>C (n.*876A>C)
c.935A>C (p.Glu312Ala)
c.953A>C (p.Glu318Ala)
c.*794A>C (n.*794A>C)
c.1013A>C (p.Glu338Ala)
1g.7663572A>GCA338122646CAMTA1c.1025A>G (p.Glu342Gly)
c.*876A>G (n.*876A>G)
c.935A>G (p.Glu312Gly)
c.953A>G (p.Glu318Gly)
c.*794A>G (n.*794A>G)
c.1013A>G (p.Glu338Gly)
1g.7663572A>TCA338122644CAMTA1c.1025A>T (p.Glu342Val)
c.*876A>T (n.*876A>T)
c.935A>T (p.Glu312Val)
c.953A>T (p.Glu318Val)
c.*794A>T (n.*794A>T)
c.1013A>T (p.Glu338Val)
1g.7663573G>ACA566356CAMTA1c.1026G>A (p.Glu342=)
c.*877G>A (n.*877G>A)
c.936G>A (p.Glu312=)
c.954G>A (p.Glu318=)
c.*795G>A (n.*795G>A)
c.1014G>A (p.Glu338=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663573G>CCA338122658CAMTA1c.1026G>C (p.Glu342Asp)
c.*877G>C (n.*877G>C)
c.936G>C (p.Glu312Asp)
c.954G>C (p.Glu318Asp)
c.*795G>C (n.*795G>C)
c.1014G>C (p.Glu338Asp)
1g.7663573G=CA1152023669CAMTA1c.1026G= (p.Glu342=)
c.*877G= (n.*877G=)
c.936G= (p.Glu312=)
c.954G= (p.Glu318=)
c.*795G= (n.*795G=)
c.1014G= (p.Glu338=)
1g.7663573G>TCA338122663CAMTA1c.1026G>T (p.Glu342Asp)
c.*877G>T (n.*877G>T)
c.936G>T (p.Glu312Asp)
c.954G>T (p.Glu318Asp)
c.*795G>T (n.*795G>T)
c.1014G>T (p.Glu338Asp)
1g.7663574G>ACA338122665CAMTA1c.1027G>A (p.Val343Ile)
c.*878G>A (n.*878G>A)
c.937G>A (p.Val313Ile)
c.955G>A (p.Val319Ile)
c.*796G>A (n.*796G>A)
c.1015G>A (p.Val339Ile)
gnomAD v4
1g.7663574G>CCA338122668CAMTA1c.1027G>C (p.Val343Leu)
c.*878G>C (n.*878G>C)
c.937G>C (p.Val313Leu)
c.955G>C (p.Val319Leu)
c.*796G>C (n.*796G>C)
c.1015G>C (p.Val339Leu)
1g.7663574G>TCA338122671CAMTA1c.1027G>T (p.Val343Phe)
c.*878G>T (n.*878G>T)
c.937G>T (p.Val313Phe)
c.955G>T (p.Val319Phe)
c.*796G>T (n.*796G>T)
c.1015G>T (p.Val339Phe)
1g.7663575T>ACA338122675CAMTA1c.1028T>A (p.Val343Asp)
c.*879T>A (n.*879T>A)
c.938T>A (p.Val313Asp)
c.956T>A (p.Val319Asp)
c.*797T>A (n.*797T>A)
c.1016T>A (p.Val339Asp)
1g.7663575T>CCA338122677CAMTA1c.1028T>C (p.Val343Ala)
c.*879T>C (n.*879T>C)
c.938T>C (p.Val313Ala)
c.956T>C (p.Val319Ala)
c.*797T>C (n.*797T>C)
c.1016T>C (p.Val339Ala)
1g.7663575T>GCA338122678CAMTA1c.1028T>G (p.Val343Gly)
c.*879T>G (n.*879T>G)
c.938T>G (p.Val313Gly)
c.956T>G (p.Val319Gly)
c.*797T>G (n.*797T>G)
c.1016T>G (p.Val339Gly)
1g.7663576C>ACA416026441CAMTA1c.1029C>A (p.Val343=)
c.*880C>A (n.*880C>A)
c.939C>A (p.Val313=)
c.957C>A (p.Val319=)
c.*798C>A (n.*798C>A)
c.1017C>A (p.Val339=)
dbSNP gnomAD v3 gnomAD v4
1g.7663576C=CA1152023670CAMTA1c.1029C= (p.Val343=)
c.*880C= (n.*880C=)
c.939C= (p.Val313=)
c.957C= (p.Val319=)
c.*798C= (n.*798C=)
c.1017C= (p.Val339=)
1g.7663576C>GCA416026442CAMTA1c.1029C>G (p.Val343=)
c.*880C>G (n.*880C>G)
c.939C>G (p.Val313=)
c.957C>G (p.Val319=)
c.*798C>G (n.*798C>G)
c.1017C>G (p.Val339=)
1g.7663576C>TCA416026443CAMTA1c.1029C>T (p.Val343=)
c.*880C>T (n.*880C>T)
c.939C>T (p.Val313=)
c.957C>T (p.Val319=)
c.*798C>T (n.*798C>T)
c.1017C>T (p.Val339=)
1g.7663577T>ACA338122680CAMTA1c.1030T>A (p.Ser344Thr)
c.*881T>A (n.*881T>A)
c.940T>A (p.Ser314Thr)
c.958T>A (p.Ser320Thr)
c.*799T>A (n.*799T>A)
c.1018T>A (p.Ser340Thr)
1g.7663577T>CCA338122681CAMTA1c.1030T>C (p.Ser344Pro)
c.*881T>C (n.*881T>C)
c.940T>C (p.Ser314Pro)
c.958T>C (p.Ser320Pro)
c.*799T>C (n.*799T>C)
c.1018T>C (p.Ser340Pro)
1g.7663577T>GCA338122683CAMTA1c.1030T>G (p.Ser344Ala)
c.*881T>G (n.*881T>G)
c.940T>G (p.Ser314Ala)
c.958T>G (p.Ser320Ala)
c.*799T>G (n.*799T>G)
c.1018T>G (p.Ser340Ala)
1g.7663578C>ACA338122688CAMTA1c.1031C>A (p.Ser344Tyr)
c.*882C>A (n.*882C>A)
c.941C>A (p.Ser314Tyr)
c.959C>A (p.Ser320Tyr)
c.*800C>A (n.*800C>A)
c.1019C>A (p.Ser340Tyr)
1g.7663578C>GCA338122692CAMTA1c.1031C>G (p.Ser344Cys)
c.*882C>G (n.*882C>G)
c.941C>G (p.Ser314Cys)
c.959C>G (p.Ser320Cys)
c.*800C>G (n.*800C>G)
c.1019C>G (p.Ser340Cys)
1g.7663578C>TCA338122690CAMTA1c.1031C>T (p.Ser344Phe)
c.*882C>T (n.*882C>T)
c.941C>T (p.Ser314Phe)
c.959C>T (p.Ser320Phe)
c.*800C>T (n.*800C>T)
c.1019C>T (p.Ser340Phe)
1g.7663579C>ACA416026444CAMTA1c.1032C>A (p.Ser344=)
c.*883C>A (n.*883C>A)
c.942C>A (p.Ser314=)
c.960C>A (p.Ser320=)
c.*801C>A (n.*801C>A)
c.1020C>A (p.Ser340=)
gnomAD v4
1g.7663579C=CA1152023671CAMTA1c.1032C= (p.Ser344=)
c.*883C= (n.*883C=)
c.942C= (p.Ser314=)
c.960C= (p.Ser320=)
c.*801C= (n.*801C=)
c.1020C= (p.Ser340=)
1g.7663579C>GCA416026445CAMTA1c.1032C>G (p.Ser344=)
c.*883C>G (n.*883C>G)
c.942C>G (p.Ser314=)
c.960C>G (p.Ser320=)
c.*801C>G (n.*801C>G)
c.1020C>G (p.Ser340=)
1g.7663579C>TCA566357CAMTA1c.1032C>T (p.Ser344=)
c.*883C>T (n.*883C>T)
c.942C>T (p.Ser314=)
c.960C>T (p.Ser320=)
c.*801C>T (n.*801C>T)
c.1020C>T (p.Ser340=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663580T>ACA338122696CAMTA1c.1033T>A (p.Ser345Thr)
c.*884T>A (n.*884T>A)
c.943T>A (p.Ser315Thr)
c.961T>A (p.Ser321Thr)
c.*802T>A (n.*802T>A)
c.1021T>A (p.Ser341Thr)
1g.7663580T>CCA338122699CAMTA1c.1033T>C (p.Ser345Pro)
c.*884T>C (n.*884T>C)
c.943T>C (p.Ser315Pro)
c.961T>C (p.Ser321Pro)
c.*802T>C (n.*802T>C)
c.1021T>C (p.Ser341Pro)
1g.7663580T>GCA338122700CAMTA1c.1033T>G (p.Ser345Ala)
c.*884T>G (n.*884T>G)
c.943T>G (p.Ser315Ala)
c.961T>G (p.Ser321Ala)
c.*802T>G (n.*802T>G)
c.1021T>G (p.Ser341Ala)
1g.7663581C>ACA338122702CAMTA1c.1034C>A (p.Ser345Tyr)
c.*885C>A (n.*885C>A)
c.944C>A (p.Ser315Tyr)
c.962C>A (p.Ser321Tyr)
c.*803C>A (n.*803C>A)
c.1022C>A (p.Ser341Tyr)
1g.7663581C>GCA338122708CAMTA1c.1034C>G (p.Ser345Cys)
c.*885C>G (n.*885C>G)
c.944C>G (p.Ser315Cys)
c.962C>G (p.Ser321Cys)
c.*803C>G (n.*803C>G)
c.1022C>G (p.Ser341Cys)
1g.7663581C>TCA338122711CAMTA1c.1034C>T (p.Ser345Phe)
c.*885C>T (n.*885C>T)
c.944C>T (p.Ser315Phe)
c.962C>T (p.Ser321Phe)
c.*803C>T (n.*803C>T)
c.1022C>T (p.Ser341Phe)
1g.7663582C>ACA416026446CAMTA1c.1035C>A (p.Ser345=)
c.*886C>A (n.*886C>A)
c.945C>A (p.Ser315=)
c.963C>A (p.Ser321=)
c.*804C>A (n.*804C>A)
c.1023C>A (p.Ser341=)
1g.7663582C>GCA416026447CAMTA1c.1035C>G (p.Ser345=)
c.*886C>G (n.*886C>G)
c.945C>G (p.Ser315=)
c.963C>G (p.Ser321=)
c.*804C>G (n.*804C>G)
c.1023C>G (p.Ser341=)
1g.7663582C>TCA416026448CAMTA1c.1035C>T (p.Ser345=)
c.*886C>T (n.*886C>T)
c.945C>T (p.Ser315=)
c.963C>T (p.Ser321=)
c.*804C>T (n.*804C>T)
c.1023C>T (p.Ser341=)
gnomAD v4 COSMIC COSMIC
1g.7663583A>CCA338122713CAMTA1c.1036A>C (p.Thr346Pro)
c.*887A>C (n.*887A>C)
c.946A>C (p.Thr316Pro)
c.964A>C (p.Thr322Pro)
c.*805A>C (n.*805A>C)
c.1024A>C (p.Thr342Pro)
1g.7663583A>GCA338122714CAMTA1c.1036A>G (p.Thr346Ala)
c.*887A>G (n.*887A>G)
c.946A>G (p.Thr316Ala)
c.964A>G (p.Thr322Ala)
c.*805A>G (n.*805A>G)
c.1024A>G (p.Thr342Ala)
1g.7663583A>TCA338122716CAMTA1c.1036A>T (p.Thr346Ser)
c.*887A>T (n.*887A>T)
c.946A>T (p.Thr316Ser)
c.964A>T (p.Thr322Ser)
c.*805A>T (n.*805A>T)
c.1024A>T (p.Thr342Ser)
1g.7663584C>ACA338122718CAMTA1c.1037C>A (p.Thr346Asn)
c.*888C>A (n.*888C>A)
c.947C>A (p.Thr316Asn)
c.965C>A (p.Thr322Asn)
c.*806C>A (n.*806C>A)
c.1025C>A (p.Thr342Asn)
1g.7663584C>GCA338122721CAMTA1c.1037C>G (p.Thr346Ser)
c.*888C>G (n.*888C>G)
c.947C>G (p.Thr316Ser)
c.965C>G (p.Thr322Ser)
c.*806C>G (n.*806C>G)
c.1025C>G (p.Thr342Ser)
1g.7663584C>TCA338122722CAMTA1c.1037C>T (p.Thr346Ile)
c.*888C>T (n.*888C>T)
c.947C>T (p.Thr316Ile)
c.965C>T (p.Thr322Ile)
c.*806C>T (n.*806C>T)
c.1025C>T (p.Thr342Ile)
1g.7663585C>ACA416026449CAMTA1c.1038C>A (p.Thr346=)
c.*889C>A (n.*889C>A)
c.948C>A (p.Thr316=)
c.966C>A (p.Thr322=)
c.*807C>A (n.*807C>A)
c.1026C>A (p.Thr342=)
1g.7663585C>GCA416026450CAMTA1c.1038C>G (p.Thr346=)
c.*889C>G (n.*889C>G)
c.948C>G (p.Thr316=)
c.966C>G (p.Thr322=)
c.*807C>G (n.*807C>G)
c.1026C>G (p.Thr342=)
1g.7663585C>TCA416026451CAMTA1c.1038C>T (p.Thr346=)
c.*889C>T (n.*889C>T)
c.948C>T (p.Thr316=)
c.966C>T (p.Thr322=)
c.*807C>T (n.*807C>T)
c.1026C>T (p.Thr342=)
1g.7663586A>CCA338122729CAMTA1c.1039A>C (p.Asn347His)
c.*890A>C (n.*890A>C)
c.949A>C (p.Asn317His)
c.967A>C (p.Asn323His)
c.*808A>C (n.*808A>C)
c.1027A>C (p.Asn343His)
1g.7663586A>GCA338122725CAMTA1c.1039A>G (p.Asn347Asp)
c.*890A>G (n.*890A>G)
c.949A>G (p.Asn317Asp)
c.967A>G (p.Asn323Asp)
c.*808A>G (n.*808A>G)
c.1027A>G (p.Asn343Asp)
gnomAD v4
1g.7663586A>TCA338122726CAMTA1c.1039A>T (p.Asn347Tyr)
c.*890A>T (n.*890A>T)
c.949A>T (p.Asn317Tyr)
c.967A>T (p.Asn323Tyr)
c.*808A>T (n.*808A>T)
c.1027A>T (p.Asn343Tyr)
1g.7663587A>CCA338122733CAMTA1c.1040A>C (p.Asn347Thr)
c.*891A>C (n.*891A>C)
c.950A>C (p.Asn317Thr)
c.968A>C (p.Asn323Thr)
c.*809A>C (n.*809A>C)
c.1028A>C (p.Asn343Thr)
1g.7663587A>GCA338122737CAMTA1c.1040A>G (p.Asn347Ser)
c.*891A>G (n.*891A>G)
c.950A>G (p.Asn317Ser)
c.968A>G (p.Asn323Ser)
c.*809A>G (n.*809A>G)
c.1028A>G (p.Asn343Ser)
1g.7663587A>TCA338122739CAMTA1c.1040A>T (p.Asn347Ile)
c.*891A>T (n.*891A>T)
c.950A>T (p.Asn317Ile)
c.968A>T (p.Asn323Ile)
c.*809A>T (n.*809A>T)
c.1028A>T (p.Asn343Ile)
1g.7663588C>ACA338122741CAMTA1c.1041C>A (p.Asn347Lys)
c.*892C>A (n.*892C>A)
c.951C>A (p.Asn317Lys)
c.969C>A (p.Asn323Lys)
c.*810C>A (n.*810C>A)
c.1029C>A (p.Asn343Lys)
1g.7663588C>GCA338122743CAMTA1c.1041C>G (p.Asn347Lys)
c.*892C>G (n.*892C>G)
c.951C>G (p.Asn317Lys)
c.969C>G (p.Asn323Lys)
c.*810C>G (n.*810C>G)
c.1029C>G (p.Asn343Lys)
1g.7663588C>TCA416026452CAMTA1c.1041C>T (p.Asn347=)
c.*892C>T (n.*892C>T)
c.951C>T (p.Asn317=)
c.969C>T (p.Asn323=)
c.*810C>T (n.*810C>T)
c.1029C>T (p.Asn343=)
1g.7663589C>ACA338122747CAMTA1c.1042C>A (p.Gln348Lys)
c.*893C>A (n.*893C>A)
c.952C>A (p.Gln318Lys)
c.970C>A (p.Gln324Lys)
c.*811C>A (n.*811C>A)
c.1030C>A (p.Gln344Lys)
1g.7663589C=CA1152023672CAMTA1c.1042C= (p.Gln348=)
c.*893C= (n.*893C=)
c.952C= (p.Gln318=)
c.970C= (p.Gln324=)
c.*811C= (n.*811C=)
c.1030C= (p.Gln344=)
1g.7663589C>GCA338122752CAMTA1c.1042C>G (p.Gln348Glu)
c.*893C>G (n.*893C>G)
c.952C>G (p.Gln318Glu)
c.970C>G (p.Gln324Glu)
c.*811C>G (n.*811C>G)
c.1030C>G (p.Gln344Glu)
1g.7663589C>TCA17244059CAMTA1c.1042C>T (p.Gln348Ter)
c.*893C>T (n.*893C>T)
c.952C>T (p.Gln318Ter)
c.970C>T (p.Gln324Ter)
c.*811C>T (n.*811C>T)
c.1030C>T (p.Gln344Ter)
dbSNP
1g.7663590A>CCA338122757CAMTA1c.1043A>C (p.Gln348Pro)
c.*894A>C (n.*894A>C)
c.953A>C (p.Gln318Pro)
c.971A>C (p.Gln324Pro)
c.*812A>C (n.*812A>C)
c.1031A>C (p.Gln344Pro)
1g.7663590A>GCA338122758CAMTA1c.1043A>G (p.Gln348Arg)
c.*894A>G (n.*894A>G)
c.953A>G (p.Gln318Arg)
c.971A>G (p.Gln324Arg)
c.*812A>G (n.*812A>G)
c.1031A>G (p.Gln344Arg)
1g.7663590A>TCA338122760CAMTA1c.1043A>T (p.Gln348Leu)
c.*894A>T (n.*894A>T)
c.953A>T (p.Gln318Leu)
c.971A>T (p.Gln324Leu)
c.*812A>T (n.*812A>T)
c.1031A>T (p.Gln344Leu)
1g.7663591G>ACA566358CAMTA1c.1044G>A (p.Gln348=)
c.*895G>A (n.*895G>A)
c.954G>A (p.Gln318=)
c.972G>A (p.Gln324=)
c.*813G>A (n.*813G>A)
c.1032G>A (p.Gln344=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663591G>CCA338122767CAMTA1c.1044G>C (p.Gln348His)
c.*895G>C (n.*895G>C)
c.954G>C (p.Gln318His)
c.972G>C (p.Gln324His)
c.*813G>C (n.*813G>C)
c.1032G>C (p.Gln344His)
1g.7663591G=CA1152023673CAMTA1c.1044G= (p.Gln348=)
c.*895G= (n.*895G=)
c.954G= (p.Gln318=)
c.972G= (p.Gln324=)
c.*813G= (n.*813G=)
c.1032G= (p.Gln344=)
1g.7663591G>TCA338122764CAMTA1c.1044G>T (p.Gln348His)
c.*895G>T (n.*895G>T)
c.954G>T (p.Gln318His)
c.972G>T (p.Gln324His)
c.*813G>T (n.*813G>T)
c.1032G>T (p.Gln344His)
gnomAD v4
1g.7663592G>ACA338122770CAMTA1c.1045G>A (p.Val349Met)
c.*896G>A (n.*896G>A)
c.955G>A (p.Val319Met)
c.973G>A (p.Val325Met)
c.*814G>A (n.*814G>A)
c.1033G>A (p.Val345Met)
1g.7663592G>CCA338122779CAMTA1c.1045G>C (p.Val349Leu)
c.*896G>C (n.*896G>C)
c.955G>C (p.Val319Leu)
c.973G>C (p.Val325Leu)
c.*814G>C (n.*814G>C)
c.1033G>C (p.Val345Leu)
1g.7663592G>TCA338122771CAMTA1c.1045G>T (p.Val349Leu)
c.*896G>T (n.*896G>T)
c.955G>T (p.Val319Leu)
c.973G>T (p.Val325Leu)
c.*814G>T (n.*814G>T)
c.1033G>T (p.Val345Leu)
1g.7663593T>ACA338122782CAMTA1c.1046T>A (p.Val349Glu)
c.*897T>A (n.*897T>A)
c.956T>A (p.Val319Glu)
c.974T>A (p.Val325Glu)
c.*815T>A (n.*815T>A)
c.1034T>A (p.Val345Glu)
1g.7663593T>CCA338122789CAMTA1c.1046T>C (p.Val349Ala)
c.*897T>C (n.*897T>C)
c.956T>C (p.Val319Ala)
c.974T>C (p.Val325Ala)
c.*815T>C (n.*815T>C)
c.1034T>C (p.Val345Ala)
1g.7663593T>GCA338122786CAMTA1c.1046T>G (p.Val349Gly)
c.*897T>G (n.*897T>G)
c.956T>G (p.Val319Gly)
c.974T>G (p.Val325Gly)
c.*815T>G (n.*815T>G)
c.1034T>G (p.Val345Gly)
1g.7663594G>ACA416026453CAMTA1c.1047G>A (p.Val349=)
c.*898G>A (n.*898G>A)
c.957G>A (p.Val319=)
c.975G>A (p.Val325=)
c.*816G>A (n.*816G>A)
c.1035G>A (p.Val345=)
dbSNP gnomAD v2 gnomAD v4
1g.7663594G>CCA416026454CAMTA1c.1047G>C (p.Val349=)
c.*898G>C (n.*898G>C)
c.957G>C (p.Val319=)
c.975G>C (p.Val325=)
c.*816G>C (n.*816G>C)
c.1035G>C (p.Val345=)
1g.7663594G=CA1152023674CAMTA1c.1047G= (p.Val349=)
c.*898G= (n.*898G=)
c.957G= (p.Val319=)
c.975G= (p.Val325=)
c.*816G= (n.*816G=)
c.1035G= (p.Val345=)
1g.7663594G>TCA416026455CAMTA1c.1047G>T (p.Val349=)
c.*898G>T (n.*898G>T)
c.957G>T (p.Val319=)
c.975G>T (p.Val325=)
c.*816G>T (n.*816G>T)
c.1035G>T (p.Val345=)
1g.7663595G>ACA338122790CAMTA1c.1048G>A (p.Glu350Lys)
c.*899G>A (n.*899G>A)
c.958G>A (p.Glu320Lys)
c.976G>A (p.Glu326Lys)
c.*817G>A (n.*817G>A)
c.1036G>A (p.Glu346Lys)
1g.7663595G>CCA338122791CAMTA1c.1048G>C (p.Glu350Gln)
c.*899G>C (n.*899G>C)
c.958G>C (p.Glu320Gln)
c.976G>C (p.Glu326Gln)
c.*817G>C (n.*817G>C)
c.1036G>C (p.Glu346Gln)
1g.7663595G>TCA338122792CAMTA1c.1048G>T (p.Glu350Ter)
c.*899G>T (n.*899G>T)
c.958G>T (p.Glu320Ter)
c.976G>T (p.Glu326Ter)
c.*817G>T (n.*817G>T)
c.1036G>T (p.Glu346Ter)
1g.7663596A>CCA338122793CAMTA1c.1049A>C (p.Glu350Ala)
c.*900A>C (n.*900A>C)
c.959A>C (p.Glu320Ala)
c.977A>C (p.Glu326Ala)
c.*818A>C (n.*818A>C)
c.1037A>C (p.Glu346Ala)
1g.7663596A>GCA338122794CAMTA1c.1049A>G (p.Glu350Gly)
c.*900A>G (n.*900A>G)
c.959A>G (p.Glu320Gly)
c.977A>G (p.Glu326Gly)
c.*818A>G (n.*818A>G)
c.1037A>G (p.Glu346Gly)
1g.7663596A>TCA338122795CAMTA1c.1049A>T (p.Glu350Val)
c.*900A>T (n.*900A>T)
c.959A>T (p.Glu320Val)
c.977A>T (p.Glu326Val)
c.*818A>T (n.*818A>T)
c.1037A>T (p.Glu346Val)
1g.7663597A>CCA338122796CAMTA1c.1050A>C (p.Glu350Asp)
c.*901A>C (n.*901A>C)
c.960A>C (p.Glu320Asp)
c.978A>C (p.Glu326Asp)
c.*819A>C (n.*819A>C)
c.1038A>C (p.Glu346Asp)
1g.7663597A>GCA416026456CAMTA1c.1050A>G (p.Glu350=)
c.*901A>G (n.*901A>G)
c.960A>G (p.Glu320=)
c.978A>G (p.Glu326=)
c.*819A>G (n.*819A>G)
c.1038A>G (p.Glu346=)
1g.7663597A>TCA338122798CAMTA1c.1050A>T (p.Glu350Asp)
c.*901A>T (n.*901A>T)
c.960A>T (p.Glu320Asp)
c.978A>T (p.Glu326Asp)
c.*819A>T (n.*819A>T)
c.1038A>T (p.Glu346Asp)
1g.7663598G>ACA338122799CAMTA1c.1051G>A (p.Val351Ile)
c.*902G>A (n.*902G>A)
c.961G>A (p.Val321Ile)
c.979G>A (p.Val327Ile)
c.*820G>A (n.*820G>A)
c.1039G>A (p.Val347Ile)
1g.7663598G>CCA338122802CAMTA1c.1051G>C (p.Val351Leu)
c.*902G>C (n.*902G>C)
c.961G>C (p.Val321Leu)
c.979G>C (p.Val327Leu)
c.*820G>C (n.*820G>C)
c.1039G>C (p.Val347Leu)
1g.7663598G>TCA338122805CAMTA1c.1051G>T (p.Val351Phe)
c.*902G>T (n.*902G>T)
c.961G>T (p.Val321Phe)
c.979G>T (p.Val327Phe)
c.*820G>T (n.*820G>T)
c.1039G>T (p.Val347Phe)
1g.7663599T>ACA338122816CAMTA1c.1052T>A (p.Val351Asp)
c.*903T>A (n.*903T>A)
c.962T>A (p.Val321Asp)
c.980T>A (p.Val327Asp)
c.*821T>A (n.*821T>A)
c.1040T>A (p.Val347Asp)
1g.7663599T>CCA338122814CAMTA1c.1052T>C (p.Val351Ala)
c.*903T>C (n.*903T>C)
c.962T>C (p.Val321Ala)
c.980T>C (p.Val327Ala)
c.*821T>C (n.*821T>C)
c.1040T>C (p.Val347Ala)
1g.7663599T>GCA338122813CAMTA1c.1052T>G (p.Val351Gly)
c.*903T>G (n.*903T>G)
c.962T>G (p.Val321Gly)
c.980T>G (p.Val327Gly)
c.*821T>G (n.*821T>G)
c.1040T>G (p.Val347Gly)
1g.7663600C>ACA416026457CAMTA1c.1053C>A (p.Val351=)
c.*904C>A (n.*904C>A)
c.963C>A (p.Val321=)
c.981C>A (p.Val327=)
c.*822C>A (n.*822C>A)
c.1041C>A (p.Val347=)
gnomAD v4
1g.7663600C>GCA416026459CAMTA1c.1053C>G (p.Val351=)
c.*904C>G (n.*904C>G)
c.963C>G (p.Val321=)
c.981C>G (p.Val327=)
c.*822C>G (n.*822C>G)
c.1041C>G (p.Val347=)
1g.7663600C>TCA416026460CAMTA1c.1053C>T (p.Val351=)
c.*904C>T (n.*904C>T)
c.963C>T (p.Val321=)
c.981C>T (p.Val327=)
c.*822C>T (n.*822C>T)
c.1041C>T (p.Val347=)
1g.7663601C>ACA338122819CAMTA1c.1054C>A (p.Pro352Thr)
c.*905C>A (n.*905C>A)
c.964C>A (p.Pro322Thr)
c.982C>A (p.Pro328Thr)
c.*823C>A (n.*823C>A)
c.1042C>A (p.Pro348Thr)
1g.7663601C>GCA338122821CAMTA1c.1054C>G (p.Pro352Ala)
c.*905C>G (n.*905C>G)
c.964C>G (p.Pro322Ala)
c.982C>G (p.Pro328Ala)
c.*823C>G (n.*823C>G)
c.1042C>G (p.Pro348Ala)
1g.7663601C>TCA338122822CAMTA1c.1054C>T (p.Pro352Ser)
c.*905C>T (n.*905C>T)
c.964C>T (p.Pro322Ser)
c.982C>T (p.Pro328Ser)
c.*823C>T (n.*823C>T)
c.1042C>T (p.Pro348Ser)
1g.7663602C>ACA338122824CAMTA1c.1055C>A (p.Pro352His)
c.*906C>A (n.*906C>A)
c.965C>A (p.Pro322His)
c.983C>A (p.Pro328His)
c.*824C>A (n.*824C>A)
c.1043C>A (p.Pro348His)
1g.7663602C>GCA338122828CAMTA1c.1055C>G (p.Pro352Arg)
c.*906C>G (n.*906C>G)
c.965C>G (p.Pro322Arg)
c.983C>G (p.Pro328Arg)
c.*824C>G (n.*824C>G)
c.1043C>G (p.Pro348Arg)
1g.7663602C>TCA338122832CAMTA1c.1055C>T (p.Pro352Leu)
c.*906C>T (n.*906C>T)
c.965C>T (p.Pro322Leu)
c.983C>T (p.Pro328Leu)
c.*824C>T (n.*824C>T)
c.1043C>T (p.Pro348Leu)
1g.7663603C>ACA416026463CAMTA1c.1056C>A (p.Pro352=)
c.*907C>A (n.*907C>A)
c.966C>A (p.Pro322=)
c.984C>A (p.Pro328=)
c.*825C>A (n.*825C>A)
c.1044C>A (p.Pro348=)
1g.7663603C=CA1147913068CAMTA1c.1056C= (p.Pro352=)
c.*907C= (n.*907C=)
c.966C= (p.Pro322=)
c.984C= (p.Pro328=)
c.*825C= (n.*825C=)
c.1044C= (p.Pro348=)
1g.7663603C>GCA566359CAMTA1c.1056C>G (p.Pro352=)
c.*907C>G (n.*907C>G)
c.966C>G (p.Pro322=)
c.984C>G (p.Pro328=)
c.*825C>G (n.*825C>G)
c.1044C>G (p.Pro348=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663603C>TCA566360CAMTA1c.1056C>T (p.Pro352=)
c.*907C>T (n.*907C>T)
c.966C>T (p.Pro322=)
c.984C>T (p.Pro328=)
c.*825C>T (n.*825C>T)
c.1044C>T (p.Pro348=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663604G>ACA338122834CAMTA1c.1057G>A (p.Asp353Asn)
c.*908G>A (n.*908G>A)
c.967G>A (p.Asp323Asn)
c.985G>A (p.Asp329Asn)
c.*826G>A (n.*826G>A)
c.1045G>A (p.Asp349Asn)
dbSNP gnomAD v4
1g.7663604G>CCA338122835CAMTA1c.1057G>C (p.Asp353His)
c.*908G>C (n.*908G>C)
c.967G>C (p.Asp323His)
c.985G>C (p.Asp329His)
c.*826G>C (n.*826G>C)
c.1045G>C (p.Asp349His)
1g.7663604G=CA1152023675CAMTA1c.1057G= (p.Asp353=)
c.*908G= (n.*908G=)
c.967G= (p.Asp323=)
c.985G= (p.Asp329=)
c.*826G= (n.*826G=)
c.1045G= (p.Asp349=)
1g.7663604G>TCA338122838CAMTA1c.1057G>T (p.Asp353Tyr)
c.*908G>T (n.*908G>T)
c.967G>T (p.Asp323Tyr)
c.985G>T (p.Asp329Tyr)
c.*826G>T (n.*826G>T)
c.1045G>T (p.Asp349Tyr)
1g.7663605A>CCA338122853CAMTA1c.1058A>C (p.Asp353Ala)
c.*909A>C (n.*909A>C)
c.968A>C (p.Asp323Ala)
c.986A>C (p.Asp329Ala)
c.*827A>C (n.*827A>C)
c.1046A>C (p.Asp349Ala)
1g.7663605A>GCA338122844CAMTA1c.1058A>G (p.Asp353Gly)
c.*909A>G (n.*909A>G)
c.968A>G (p.Asp323Gly)
c.986A>G (p.Asp329Gly)
c.*827A>G (n.*827A>G)
c.1046A>G (p.Asp349Gly)
1g.7663605A>TCA338122841CAMTA1c.1058A>T (p.Asp353Val)
c.*909A>T (n.*909A>T)
c.968A>T (p.Asp323Val)
c.986A>T (p.Asp329Val)
c.*827A>T (n.*827A>T)
c.1046A>T (p.Asp349Val)
1g.7663606C>ACA338122854CAMTA1c.1059C>A (p.Asp353Glu)
c.*910C>A (n.*910C>A)
c.969C>A (p.Asp323Glu)
c.987C>A (p.Asp329Glu)
c.*828C>A (n.*828C>A)
c.1047C>A (p.Asp349Glu)
1g.7663606C=CA1152023676CAMTA1c.1059C= (p.Asp353=)
c.*910C= (n.*910C=)
c.969C= (p.Asp323=)
c.987C= (p.Asp329=)
c.*828C= (n.*828C=)
c.1047C= (p.Asp349=)
1g.7663606C>GCA338122857CAMTA1c.1059C>G (p.Asp353Glu)
c.*910C>G (n.*910C>G)
c.969C>G (p.Asp323Glu)
c.987C>G (p.Asp329Glu)
c.*828C>G (n.*828C>G)
c.1047C>G (p.Asp349Glu)
1g.7663606C>TCA416026467CAMTA1c.1059C>T (p.Asp353=)
c.*910C>T (n.*910C>T)
c.969C>T (p.Asp323=)
c.987C>T (p.Asp329=)
c.*828C>T (n.*828C>T)
c.1047C>T (p.Asp349=)
dbSNP
1g.7663607A>CCA338122859CAMTA1c.1060A>C (p.Thr354Pro)
c.*911A>C (n.*911A>C)
c.970A>C (p.Thr324Pro)
c.988A>C (p.Thr330Pro)
c.*829A>C (n.*829A>C)
c.1048A>C (p.Thr350Pro)
1g.7663607A>GCA338122862CAMTA1c.1060A>G (p.Thr354Ala)
c.*911A>G (n.*911A>G)
c.970A>G (p.Thr324Ala)
c.988A>G (p.Thr330Ala)
c.*829A>G (n.*829A>G)
c.1048A>G (p.Thr350Ala)
gnomAD v4
1g.7663607A>TCA338122868CAMTA1c.1060A>T (p.Thr354Ser)
c.*911A>T (n.*911A>T)
c.970A>T (p.Thr324Ser)
c.988A>T (p.Thr330Ser)
c.*829A>T (n.*829A>T)
c.1048A>T (p.Thr350Ser)
1g.7663608C>ACA338122884CAMTA1c.1061C>A (p.Thr354Asn)
c.*912C>A (n.*912C>A)
c.971C>A (p.Thr324Asn)
c.989C>A (p.Thr330Asn)
c.*830C>A (n.*830C>A)
c.1049C>A (p.Thr350Asn)
1g.7663608C>GCA338122882CAMTA1c.1061C>G (p.Thr354Ser)
c.*912C>G (n.*912C>G)
c.971C>G (p.Thr324Ser)
c.989C>G (p.Thr330Ser)
c.*830C>G (n.*830C>G)
c.1049C>G (p.Thr350Ser)
1g.7663608C>TCA338122872CAMTA1c.1061C>T (p.Thr354Ile)
c.*912C>T (n.*912C>T)
c.971C>T (p.Thr324Ile)
c.989C>T (p.Thr330Ile)
c.*830C>T (n.*830C>T)
c.1049C>T (p.Thr350Ile)
1g.7663609C>ACA416026470CAMTA1c.1062C>A (p.Thr354=)
c.*913C>A (n.*913C>A)
c.972C>A (p.Thr324=)
c.990C>A (p.Thr330=)
c.*831C>A (n.*831C>A)
c.1050C>A (p.Thr350=)
1g.7663609C>GCA416026472CAMTA1c.1062C>G (p.Thr354=)
c.*913C>G (n.*913C>G)
c.972C>G (p.Thr324=)
c.990C>G (p.Thr330=)
c.*831C>G (n.*831C>G)
c.1050C>G (p.Thr350=)
1g.7663609C>TCA416026468CAMTA1c.1062C>T (p.Thr354=)
c.*913C>T (n.*913C>T)
c.972C>T (p.Thr324=)
c.990C>T (p.Thr330=)
c.*831C>T (n.*831C>T)
c.1050C>T (p.Thr350=)
1g.7663610A>CCA338122892CAMTA1c.1063A>C (p.Thr355Pro)
c.*914A>C (n.*914A>C)
c.973A>C (p.Thr325Pro)
c.991A>C (p.Thr331Pro)
c.*832A>C (n.*832A>C)
c.1051A>C (p.Thr351Pro)
1g.7663610A>GCA338122895CAMTA1c.1063A>G (p.Thr355Ala)
c.*914A>G (n.*914A>G)
c.973A>G (p.Thr325Ala)
c.991A>G (p.Thr331Ala)
c.*832A>G (n.*832A>G)
c.1051A>G (p.Thr351Ala)
1g.7663610A>TCA338122898CAMTA1c.1063A>T (p.Thr355Ser)
c.*914A>T (n.*914A>T)
c.973A>T (p.Thr325Ser)
c.991A>T (p.Thr331Ser)
c.*832A>T (n.*832A>T)
c.1051A>T (p.Thr351Ser)
1g.7663611C>ACA338122901CAMTA1c.1064C>A (p.Thr355Asn)
c.*915C>A (n.*915C>A)
c.974C>A (p.Thr325Asn)
c.992C>A (p.Thr331Asn)
c.*833C>A (n.*833C>A)
c.1052C>A (p.Thr351Asn)
1g.7663611C>GCA338122919CAMTA1c.1064C>G (p.Thr355Ser)
c.*915C>G (n.*915C>G)
c.974C>G (p.Thr325Ser)
c.992C>G (p.Thr331Ser)
c.*833C>G (n.*833C>G)
c.1052C>G (p.Thr351Ser)
1g.7663611C>TCA338122936CAMTA1c.1064C>T (p.Thr355Ile)
c.*915C>T (n.*915C>T)
c.974C>T (p.Thr325Ile)
c.992C>T (p.Thr331Ile)
c.*833C>T (n.*833C>T)
c.1052C>T (p.Thr351Ile)
1g.7663612C>ACA416026478CAMTA1c.1065C>A (p.Thr355=)
c.*916C>A (n.*916C>A)
c.975C>A (p.Thr325=)
c.993C>A (p.Thr331=)
c.*834C>A (n.*834C>A)
c.1053C>A (p.Thr351=)
1g.7663612C=CA1152023677CAMTA1c.1065C= (p.Thr355=)
c.*916C= (n.*916C=)
c.975C= (p.Thr325=)
c.993C= (p.Thr331=)
c.*834C= (n.*834C=)
c.1053C= (p.Thr351=)
1g.7663612C>GCA416026474CAMTA1c.1065C>G (p.Thr355=)
c.*916C>G (n.*916C>G)
c.975C>G (p.Thr325=)
c.993C>G (p.Thr331=)
c.*834C>G (n.*834C>G)
c.1053C>G (p.Thr351=)
1g.7663612C>TCA416026476CAMTA1c.1065C>T (p.Thr355=)
c.*916C>T (n.*916C>T)
c.975C>T (p.Thr325=)
c.993C>T (p.Thr331=)
c.*834C>T (n.*834C>T)
c.1053C>T (p.Thr351=)
dbSNP gnomAD v3 gnomAD v4
1g.7663613C>ACA338122943CAMTA1c.1066C>A (p.Gln356Lys)
c.*917C>A (n.*917C>A)
c.976C>A (p.Gln326Lys)
c.994C>A (p.Gln332Lys)
c.*835C>A (n.*835C>A)
c.1054C>A (p.Gln352Lys)
gnomAD v4
1g.7663613C>GCA338122951CAMTA1c.1066C>G (p.Gln356Glu)
c.*917C>G (n.*917C>G)
c.976C>G (p.Gln326Glu)
c.994C>G (p.Gln332Glu)
c.*835C>G (n.*835C>G)
c.1054C>G (p.Gln352Glu)
1g.7663613C>TCA338122948CAMTA1c.1066C>T (p.Gln356Ter)
c.*917C>T (n.*917C>T)
c.976C>T (p.Gln326Ter)
c.994C>T (p.Gln332Ter)
c.*835C>T (n.*835C>T)
c.1054C>T (p.Gln352Ter)
1g.7663614A>CCA338122955CAMTA1c.1067A>C (p.Gln356Pro)
c.*918A>C (n.*918A>C)
c.977A>C (p.Gln326Pro)
c.995A>C (p.Gln332Pro)
c.*836A>C (n.*836A>C)
c.1055A>C (p.Gln352Pro)
1g.7663614A>GCA338122974CAMTA1c.1067A>G (p.Gln356Arg)
c.*918A>G (n.*918A>G)
c.977A>G (p.Gln326Arg)
c.995A>G (p.Gln332Arg)
c.*836A>G (n.*836A>G)
c.1055A>G (p.Gln352Arg)
1g.7663614A>TCA338122977CAMTA1c.1067A>T (p.Gln356Leu)
c.*918A>T (n.*918A>T)
c.977A>T (p.Gln326Leu)
c.995A>T (p.Gln332Leu)
c.*836A>T (n.*836A>T)
c.1055A>T (p.Gln352Leu)
1g.7663615G>ACA416026480CAMTA1c.1068G>A (p.Gln356=)
c.*919G>A (n.*919G>A)
c.978G>A (p.Gln326=)
c.996G>A (p.Gln332=)
c.*837G>A (n.*837G>A)
c.1056G>A (p.Gln352=)
1g.7663615G>CCA17244069CAMTA1c.1068G>C (p.Gln356His)
c.*919G>C (n.*919G>C)
c.978G>C (p.Gln326His)
c.996G>C (p.Gln332His)
c.*837G>C (n.*837G>C)
c.1056G>C (p.Gln352His)
dbSNP
1g.7663615G=CA1152023678CAMTA1c.1068G= (p.Gln356=)
c.*919G= (n.*919G=)
c.978G= (p.Gln326=)
c.996G= (p.Gln332=)
c.*837G= (n.*837G=)
c.1056G= (p.Gln352=)
1g.7663615G>TCA338122980CAMTA1c.1068G>T (p.Gln356His)
c.*919G>T (n.*919G>T)
c.978G>T (p.Gln326His)
c.996G>T (p.Gln332His)
c.*837G>T (n.*837G>T)
c.1056G>T (p.Gln352His)
1g.7663616A>CCA338122982CAMTA1c.1069A>C (p.Ser357Arg)
c.*920A>C (n.*920A>C)
c.979A>C (p.Ser327Arg)
c.997A>C (p.Ser333Arg)
c.*838A>C (n.*838A>C)
c.1057A>C (p.Ser353Arg)
1g.7663616A>GCA338122986CAMTA1c.1069A>G (p.Ser357Gly)
c.*920A>G (n.*920A>G)
c.979A>G (p.Ser327Gly)
c.997A>G (p.Ser333Gly)
c.*838A>G (n.*838A>G)
c.1057A>G (p.Ser353Gly)
1g.7663616A>TCA338122989CAMTA1c.1069A>T (p.Ser357Cys)
c.*920A>T (n.*920A>T)
c.979A>T (p.Ser327Cys)
c.997A>T (p.Ser333Cys)
c.*838A>T (n.*838A>T)
c.1057A>T (p.Ser353Cys)
1g.7663617G>ACA17244074CAMTA1c.1070G>A (p.Ser357Asn)
c.*921G>A (n.*921G>A)
c.980G>A (p.Ser327Asn)
c.998G>A (p.Ser333Asn)
c.*839G>A (n.*839G>A)
c.1058G>A (p.Ser353Asn)
dbSNP gnomAD v4
1g.7663617G>CCA338124369CAMTA1c.1070G>C (p.Ser357Thr)
c.*921G>C (n.*921G>C)
c.980G>C (p.Ser327Thr)
c.998G>C (p.Ser333Thr)
c.*839G>C (n.*839G>C)
c.1058G>C (p.Ser353Thr)
1g.7663617G=CA1152023679CAMTA1c.1070G= (p.Ser357=)
c.*921G= (n.*921G=)
c.980G= (p.Ser327=)
c.998G= (p.Ser333=)
c.*839G= (n.*839G=)
c.1058G= (p.Ser353=)
1g.7663617G>TCA338124378CAMTA1c.1070G>T (p.Ser357Ile)
c.*921G>T (n.*921G>T)
c.980G>T (p.Ser327Ile)
c.998G>T (p.Ser333Ile)
c.*839G>T (n.*839G>T)
c.1058G>T (p.Ser353Ile)
1g.7663618C>ACA338124395CAMTA1c.1071C>A (p.Ser357Arg)
c.*922C>A (n.*922C>A)
c.981C>A (p.Ser327Arg)
c.999C>A (p.Ser333Arg)
c.*840C>A (n.*840C>A)
c.1059C>A (p.Ser353Arg)
gnomAD v4
1g.7663618C>GCA338124385CAMTA1c.1071C>G (p.Ser357Arg)
c.*922C>G (n.*922C>G)
c.981C>G (p.Ser327Arg)
c.999C>G (p.Ser333Arg)
c.*840C>G (n.*840C>G)
c.1059C>G (p.Ser353Arg)
1g.7663618C>TCA416026458CAMTA1c.1071C>T (p.Ser357=)
c.*922C>T (n.*922C>T)
c.981C>T (p.Ser327=)
c.999C>T (p.Ser333=)
c.*840C>T (n.*840C>T)
c.1059C>T (p.Ser353=)
1g.7663619T>ACA338124400CAMTA1c.1072T>A (p.Ser358Thr)
c.*923T>A (n.*923T>A)
c.982T>A (p.Ser328Thr)
c.1000T>A (p.Ser334Thr)
c.*841T>A (n.*841T>A)
c.1060T>A (p.Ser354Thr)
COSMIC
1g.7663619T>CCA338124405CAMTA1c.1072T>C (p.Ser358Pro)
c.*923T>C (n.*923T>C)
c.982T>C (p.Ser328Pro)
c.1000T>C (p.Ser334Pro)
c.*841T>C (n.*841T>C)
c.1060T>C (p.Ser354Pro)
1g.7663619T>GCA338124402CAMTA1c.1072T>G (p.Ser358Ala)
c.*923T>G (n.*923T>G)
c.982T>G (p.Ser328Ala)
c.1000T>G (p.Ser334Ala)
c.*841T>G (n.*841T>G)
c.1060T>G (p.Ser354Ala)
1g.7663620C>ACA338124430CAMTA1c.1073C>A (p.Ser358Tyr)
c.*924C>A (n.*924C>A)
c.983C>A (p.Ser328Tyr)
c.1001C>A (p.Ser334Tyr)
c.*842C>A (n.*842C>A)
c.1061C>A (p.Ser354Tyr)
1g.7663620C>GCA338124435CAMTA1c.1073C>G (p.Ser358Cys)
c.*924C>G (n.*924C>G)
c.983C>G (p.Ser328Cys)
c.1001C>G (p.Ser334Cys)
c.*842C>G (n.*842C>G)
c.1061C>G (p.Ser354Cys)
1g.7663620C>TCA338124438CAMTA1c.1073C>T (p.Ser358Phe)
c.*924C>T (n.*924C>T)
c.983C>T (p.Ser328Phe)
c.1001C>T (p.Ser334Phe)
c.*842C>T (n.*842C>T)
c.1061C>T (p.Ser354Phe)
1g.7663621C>ACA416026461CAMTA1c.1074C>A (p.Ser358=)
c.*925C>A (n.*925C>A)
c.984C>A (p.Ser328=)
c.1002C>A (p.Ser334=)
c.*843C>A (n.*843C>A)
c.1062C>A (p.Ser354=)
1g.7663621C>GCA416026462CAMTA1c.1074C>G (p.Ser358=)
c.*925C>G (n.*925C>G)
c.984C>G (p.Ser328=)
c.1002C>G (p.Ser334=)
c.*843C>G (n.*843C>G)
c.1062C>G (p.Ser354=)
1g.7663621C>TCA416026464CAMTA1c.1074C>T (p.Ser358=)
c.*925C>T (n.*925C>T)
c.984C>T (p.Ser328=)
c.1002C>T (p.Ser334=)
c.*843C>T (n.*843C>T)
c.1062C>T (p.Ser354=)
1g.7663622C>ACA338124441CAMTA1c.1075C>A (p.Pro359Thr)
c.*926C>A (n.*926C>A)
c.985C>A (p.Pro329Thr)
c.1003C>A (p.Pro335Thr)
c.*844C>A (n.*844C>A)
c.1063C>A (p.Pro355Thr)
1g.7663622C>GCA338124443CAMTA1c.1075C>G (p.Pro359Ala)
c.*926C>G (n.*926C>G)
c.985C>G (p.Pro329Ala)
c.1003C>G (p.Pro335Ala)
c.*844C>G (n.*844C>G)
c.1063C>G (p.Pro355Ala)
gnomAD v4
1g.7663622C>TCA338124446CAMTA1c.1075C>T (p.Pro359Ser)
c.*926C>T (n.*926C>T)
c.985C>T (p.Pro329Ser)
c.1003C>T (p.Pro335Ser)
c.*844C>T (n.*844C>T)
c.1063C>T (p.Pro355Ser)
COSMIC
1g.7663623C>ACA338124452CAMTA1c.1076C>A (p.Pro359His)
c.*927C>A (n.*927C>A)
c.986C>A (p.Pro329His)
c.1004C>A (p.Pro335His)
c.*845C>A (n.*845C>A)
c.1064C>A (p.Pro355His)
1g.7663623C>GCA338124455CAMTA1c.1076C>G (p.Pro359Arg)
c.*927C>G (n.*927C>G)
c.986C>G (p.Pro329Arg)
c.1004C>G (p.Pro335Arg)
c.*845C>G (n.*845C>G)
c.1064C>G (p.Pro355Arg)
1g.7663623C>TCA338124471CAMTA1c.1076C>T (p.Pro359Leu)
c.*927C>T (n.*927C>T)
c.986C>T (p.Pro329Leu)
c.1004C>T (p.Pro335Leu)
c.*845C>T (n.*845C>T)
c.1064C>T (p.Pro355Leu)
1g.7663624T>ACA416026465CAMTA1c.1077T>A (p.Pro359=)
c.*928T>A (n.*928T>A)
c.987T>A (p.Pro329=)
c.1005T>A (p.Pro335=)
c.*846T>A (n.*846T>A)
c.1065T>A (p.Pro355=)
1g.7663624T>CCA416026466CAMTA1c.1077T>C (p.Pro359=)
c.*928T>C (n.*928T>C)
c.987T>C (p.Pro329=)
c.1005T>C (p.Pro335=)
c.*846T>C (n.*846T>C)
c.1065T>C (p.Pro355=)
1g.7663624T>GCA566361CAMTA1c.1077T>G (p.Pro359=)
c.*928T>G (n.*928T>G)
c.987T>G (p.Pro329=)
c.1005T>G (p.Pro335=)
c.*846T>G (n.*846T>G)
c.1065T>G (p.Pro355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663624T=CA1141640161CAMTA1c.1077T= (p.Pro359=)
c.*928T= (n.*928T=)
c.987T= (p.Pro329=)
c.1005T= (p.Pro335=)
c.*846T= (n.*846T=)
c.1065T= (p.Pro355=)
1g.7663625G>ACA338124490CAMTA1c.1078G>A (p.Val360Met)
c.*929G>A (n.*929G>A)
c.988G>A (p.Val330Met)
c.1006G>A (p.Val336Met)
c.*847G>A (n.*847G>A)
c.1066G>A (p.Val356Met)
gnomAD v4
1g.7663625G>CCA338124493CAMTA1c.1078G>C (p.Val360Leu)
c.*929G>C (n.*929G>C)
c.988G>C (p.Val330Leu)
c.1006G>C (p.Val336Leu)
c.*847G>C (n.*847G>C)
c.1066G>C (p.Val356Leu)
1g.7663625G>TCA338124496CAMTA1c.1078G>T (p.Val360Leu)
c.*929G>T (n.*929G>T)
c.988G>T (p.Val330Leu)
c.1006G>T (p.Val336Leu)
c.*847G>T (n.*847G>T)
c.1066G>T (p.Val356Leu)
1g.7663626T>ACA338124516CAMTA1c.1079T>A (p.Val360Glu)
c.*930T>A (n.*930T>A)
c.989T>A (p.Val330Glu)
c.1007T>A (p.Val336Glu)
c.*848T>A (n.*848T>A)
c.1067T>A (p.Val356Glu)
1g.7663626T>CCA338124509CAMTA1c.1079T>C (p.Val360Ala)
c.*930T>C (n.*930T>C)
c.989T>C (p.Val330Ala)
c.1007T>C (p.Val336Ala)
c.*848T>C (n.*848T>C)
c.1067T>C (p.Val356Ala)
1g.7663626T>GCA566362CAMTA1c.1079T>G (p.Val360Gly)
c.*930T>G (n.*930T>G)
c.989T>G (p.Val330Gly)
c.1007T>G (p.Val336Gly)
c.*848T>G (n.*848T>G)
c.1067T>G (p.Val356Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663626T=CA1141940844CAMTA1c.1079T= (p.Val360=)
c.*930T= (n.*930T=)
c.989T= (p.Val330=)
c.1007T= (p.Val336=)
c.*848T= (n.*848T=)
c.1067T= (p.Val356=)
1g.7663627G>ACA17244086CAMTA1c.1080G>A (p.Val360=)
c.*931G>A (n.*931G>A)
c.990G>A (p.Val330=)
c.1008G>A (p.Val336=)
c.*849G>A (n.*849G>A)
c.1068G>A (p.Val356=)
dbSNP gnomAD v3 gnomAD v4
1g.7663627G>CCA416026469CAMTA1c.1080G>C (p.Val360=)
c.*931G>C (n.*931G>C)
c.990G>C (p.Val330=)
c.1008G>C (p.Val336=)
c.*849G>C (n.*849G>C)
c.1068G>C (p.Val356=)
1g.7663627G=CA1152023680CAMTA1c.1080G= (p.Val360=)
c.*931G= (n.*931G=)
c.990G= (p.Val330=)
c.1008G= (p.Val336=)
c.*849G= (n.*849G=)
c.1068G= (p.Val356=)
1g.7663627G>TCA416026471CAMTA1c.1080G>T (p.Val360=)
c.*931G>T (n.*931G>T)
c.990G>T (p.Val330=)
c.1008G>T (p.Val336=)
c.*849G>T (n.*849G>T)
c.1068G>T (p.Val356=)
gnomAD v4
1g.7663628T>ACA338124517CAMTA1c.1081T>A (p.Ser361Thr)
c.*932T>A (n.*932T>A)
c.991T>A (p.Ser331Thr)
c.1009T>A (p.Ser337Thr)
c.*850T>A (n.*850T>A)
c.1069T>A (p.Ser357Thr)
1g.7663628T>CCA338124518CAMTA1c.1081T>C (p.Ser361Pro)
c.*932T>C (n.*932T>C)
c.991T>C (p.Ser331Pro)
c.1009T>C (p.Ser337Pro)
c.*850T>C (n.*850T>C)
c.1069T>C (p.Ser357Pro)
1g.7663628T>GCA338124520CAMTA1c.1081T>G (p.Ser361Ala)
c.*932T>G (n.*932T>G)
c.991T>G (p.Ser331Ala)
c.1009T>G (p.Ser337Ala)
c.*850T>G (n.*850T>G)
c.1069T>G (p.Ser357Ala)

Number of alleles fetched