Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.3595713A=CA2318945807TBXA2Rc.1007T= (p.Leu336=)
c.983+24T= (n.983+24T=)
c.618T= (p.Ala206=)
19g.3595713A>CCA403329854TBXA2Rc.1007T>G (p.Leu336Arg)
c.983+24T>G (n.983+24T>G)
c.618T>G (p.Ala206=)
19g.3595713A>GCA403329858TBXA2Rc.1007T>C (p.Leu336Pro)
c.983+24T>C (n.983+24T>C)
c.618T>C (p.Ala206=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595713A>TCA403329862TBXA2Rc.1007T>A (p.Leu336His)
c.983+24T>A (n.983+24T>A)
c.618T>A (p.Ala206=)
19g.3595714G>ACA403329877TBXA2Rc.1006C>T (p.Leu336Phe)
c.983+23C>T (n.983+23C>T)
c.617C>T (p.Ala206Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595714G>CCA403329879TBXA2Rc.1006C>G (p.Leu336Val)
c.983+23C>G (n.983+23C>G)
c.617C>G (p.Ala206Gly)
19g.3595714G=CA2318945808TBXA2Rc.1006C= (p.Leu336=)
c.983+23C= (n.983+23C=)
c.617C= (p.Ala206=)
19g.3595714G>TCA403329881TBXA2Rc.1006C>A (p.Leu336Ile)
c.983+23C>A (n.983+23C>A)
c.617C>A (p.Ala206Asp)
 gnomAD v4
19g.3595715C>ACA403329883TBXA2Rc.1005G>T (p.Gln335His)
c.983+22G>T (n.983+22G>T)
c.616G>T (p.Ala206Ser)
 gnomAD v4
19g.3595715C>GCA403329885TBXA2Rc.1005G>C (p.Gln335His)
c.983+22G>C (n.983+22G>C)
c.616G>C (p.Ala206Pro)
 gnomAD v4
19g.3595715C>TCA403329886TBXA2Rc.1005G>A (p.Gln335=)
c.983+22G>A (n.983+22G>A)
c.616G>A (p.Ala206Thr)
 gnomAD v4
19g.3595716T>ACA403329889TBXA2Rc.1004A>T (p.Gln335Leu)
c.983+21A>T (n.983+21A>T)
c.615A>T (p.Pro205=)
19g.3595716T>CCA403329891TBXA2Rc.1004A>G (p.Gln335Arg)
c.983+21A>G (n.983+21A>G)
c.615A>G (p.Pro205=)
19g.3595716T>GCA403329894TBXA2Rc.1004A>C (p.Gln335Pro)
c.983+21A>C (n.983+21A>C)
c.615A>C (p.Pro205=)
19g.3595717G>ACA403329904TBXA2Rc.1003C>T (p.Gln335Ter)
c.983+20C>T (n.983+20C>T)
c.614C>T (p.Pro205Leu)
19g.3595717G>CCA403329898TBXA2Rc.1003C>G (p.Gln335Glu)
c.983+20C>G (n.983+20C>G)
c.614C>G (p.Pro205Arg)
19g.3595717G>TCA403329902TBXA2Rc.1003C>A (p.Gln335Lys)
c.983+20C>A (n.983+20C>A)
c.614C>A (p.Pro205Gln)
 gnomAD v4
19g.3595718G>ACA403329907TBXA2Rc.1002C>T (p.Pro334=)
c.983+19C>T (n.983+19C>T)
c.613C>T (p.Pro205Ser)
 dbSNP gnomAD v2
19g.3595718G>CCA403329908TBXA2Rc.1002C>G (p.Pro334=)
c.983+19C>G (n.983+19C>G)
c.613C>G (p.Pro205Ala)
 gnomAD v4
19g.3595718G=CA2318945809TBXA2Rc.1002C= (p.Pro334=)
c.983+19C= (n.983+19C=)
c.613C= (p.Pro205=)
19g.3595718G>TCA403329909TBXA2Rc.1002C>A (p.Pro334=)
c.983+19C>A (n.983+19C>A)
c.613C>A (p.Pro205Thr)
 gnomAD v4
19g.3595719G>ACA403329910TBXA2Rc.1001C>T (p.Pro334Leu)
c.983+18C>T (n.983+18C>T)
c.612C>T (p.Ala204=)
 dbSNP gnomAD v2
19g.3595719G>CCA403329911TBXA2Rc.1001C>G (p.Pro334Arg)
c.983+18C>G (n.983+18C>G)
c.612C>G (p.Ala204=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595719G=CA2318945810TBXA2Rc.1001C= (p.Pro334=)
c.983+18C= (n.983+18C=)
c.612C= (p.Ala204=)
19g.3595719G>TCA403329913TBXA2Rc.1001C>A (p.Pro334His)
c.983+18C>A (n.983+18C>A)
c.612C>A (p.Ala204=)
 gnomAD v4
19g.3595720G>ACA403329922TBXA2Rc.1000C>T (p.Pro334Ser)
c.983+17C>T (n.983+17C>T)
c.611C>T (p.Ala204Val)
 gnomAD v4
19g.3595720G>CCA403329931TBXA2Rc.1000C>G (p.Pro334Ala)
c.983+17C>G (n.983+17C>G)
c.611C>G (p.Ala204Gly)
19g.3595720G>TCA403329932TBXA2Rc.1000C>A (p.Pro334Thr)
c.983+17C>A (n.983+17C>A)
c.611C>A (p.Ala204Asp)
19g.3595721C>ACA9080720TBXA2Rc.999G>T (p.Gln333His)
c.983+16G>T (n.983+16G>T)
c.610G>T (p.Ala204Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595721C=CA2318945811TBXA2Rc.999G= (p.Gln333=)
c.983+16G= (n.983+16G=)
c.610G= (p.Ala204=)
19g.3595721C>GCA403329936TBXA2Rc.999G>C (p.Gln333His)
c.983+16G>C (n.983+16G>C)
c.610G>C (p.Ala204Pro)
 dbSNP
19g.3595721C>TCA403329940TBXA2Rc.999G>A (p.Gln333=)
c.983+16G>A (n.983+16G>A)
c.610G>A (p.Ala204Thr)
19g.3595722T>ACA403329948TBXA2Rc.998A>T (p.Gln333Leu)
c.983+15A>T (n.983+15A>T)
c.609A>T (p.Pro203=)
19g.3595722T>CCA403329961TBXA2Rc.998A>G (p.Gln333Arg)
c.983+15A>G (n.983+15A>G)
c.609A>G (p.Pro203=)
 gnomAD v4
19g.3595722T>GCA403329946TBXA2Rc.998A>C (p.Gln333Pro)
c.983+15A>C (n.983+15A>C)
c.609A>C (p.Pro203=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595722T=CA2318945812TBXA2Rc.998A= (p.Gln333=)
c.983+15A= (n.983+15A=)
c.609A= (p.Pro203=)
19g.3595722dupCA2576567969TBXA2Rc.998dup (p.Pro334AlafsTer?)
c.983+15dup (n.983+15dup)
c.609dup (p.Ala204SerfsTer?)
19g.3595723G>ACA9080721TBXA2Rc.997C>T (p.Gln333Ter)
c.983+14C>T (n.983+14C>T)
c.608C>T (p.Pro203Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595723G>CCA403329966TBXA2Rc.997C>G (p.Gln333Glu)
c.983+14C>G (n.983+14C>G)
c.608C>G (p.Pro203Arg)
19g.3595723G=CA2318945813TBXA2Rc.997C= (p.Gln333=)
c.983+14C= (n.983+14C=)
c.608C= (p.Pro203=)
19g.3595723G>TCA403329968TBXA2Rc.997C>A (p.Gln333Lys)
c.983+14C>A (n.983+14C>A)
c.608C>A (p.Pro203Gln)
19g.3595724G>ACA403329971TBXA2Rc.996C>T (p.Leu332=)
c.983+13C>T (n.983+13C>T)
c.607C>T (p.Pro203Ser)
19g.3595724G>CCA403329974TBXA2Rc.996C>G (p.Leu332=)
c.983+13C>G (n.983+13C>G)
c.607C>G (p.Pro203Ala)
 gnomAD v4
19g.3595724G>TCA403329977TBXA2Rc.996C>A (p.Leu332=)
c.983+13C>A (n.983+13C>A)
c.607C>A (p.Pro203Thr)
 gnomAD v4
19g.3595725A>CCA403329987TBXA2Rc.995T>G (p.Leu332Arg)
c.983+12T>G (n.983+12T>G)
c.606T>G (p.Pro202=)
19g.3595725A>GCA403329981TBXA2Rc.995T>C (p.Leu332Pro)
c.983+12T>C (n.983+12T>C)
c.606T>C (p.Pro202=)
 ClinVar gnomAD v4
19g.3595725A>TCA403329984TBXA2Rc.995T>A (p.Leu332His)
c.983+12T>A (n.983+12T>A)
c.606T>A (p.Pro202=)
19g.3595726G>ACA403329991TBXA2Rc.994C>T (p.Leu332Phe)
c.983+11C>T (n.983+11C>T)
c.605C>T (p.Pro202Leu)
 dbSNP gnomAD v4 COSMIC
19g.3595726G>CCA403329994TBXA2Rc.994C>G (p.Leu332Val)
c.983+11C>G (n.983+11C>G)
c.605C>G (p.Pro202Arg)
19g.3595726G=CA2318945814TBXA2Rc.994C= (p.Leu332=)
c.983+11C= (n.983+11C=)
c.605C= (p.Pro202=)
19g.3595726G>TCA403329997TBXA2Rc.994C>A (p.Leu332Ile)
c.983+11C>A (n.983+11C>A)
c.605C>A (p.Pro202His)
19g.3595727G>ACA403330000TBXA2Rc.993C>T (p.Ser331=)
c.983+10C>T (n.983+10C>T)
c.604C>T (p.Pro202Ser)
 dbSNP gnomAD v4
19g.3595727G>CCA403330003TBXA2Rc.993C>G (p.Ser331=)
c.983+10C>G (n.983+10C>G)
c.604C>G (p.Pro202Ala)
 dbSNP gnomAD v4
19g.3595727G=CA2318945815TBXA2Rc.993C= (p.Ser331=)
c.983+10C= (n.983+10C=)
c.604C= (p.Pro202=)
19g.3595727G>TCA403330007TBXA2Rc.993C>A (p.Ser331=)
c.983+10C>A (n.983+10C>A)
c.604C>A (p.Pro202Thr)
 gnomAD v4
19g.3595728G>ACA403330009TBXA2Rc.992C>T (p.Ser331Phe)
c.983+9C>T (n.983+9C>T)
c.603C>T (p.Val201=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595728G>CCA403330014TBXA2Rc.992C>G (p.Ser331Cys)
c.983+9C>G (n.983+9C>G)
c.603C>G (p.Val201=)
19g.3595728G=CA2318945816TBXA2Rc.992C= (p.Ser331=)
c.983+9C= (n.983+9C=)
c.603C= (p.Val201=)
19g.3595728G>TCA403330012TBXA2Rc.992C>A (p.Ser331Tyr)
c.983+9C>A (n.983+9C>A)
c.603C>A (p.Val201=)
 gnomAD v4
19g.3595729A>CCA403330021TBXA2Rc.991T>G (p.Ser331Ala)
c.983+8T>G (n.983+8T>G)
c.602T>G (p.Val201Gly)
19g.3595729A>GCA403330022TBXA2Rc.991T>C (p.Ser331Pro)
c.983+8T>C (n.983+8T>C)
c.602T>C (p.Val201Ala)
19g.3595729A>TCA403330025TBXA2Rc.991T>A (p.Ser331Thr)
c.983+8T>A (n.983+8T>A)
c.602T>A (p.Val201Asp)
19g.3595730C>ACA403330032TBXA2Rc.990G>T (p.Leu330=)
c.983+7G>T (n.983+7G>T)
c.601G>T (p.Val201Phe)
19g.3595730C>GCA403330035TBXA2Rc.990G>C (p.Leu330=)
c.983+7G>C (n.983+7G>C)
c.601G>C (p.Val201Leu)
19g.3595730C>TCA403330038TBXA2Rc.990G>A (p.Leu330=)
c.983+7G>A (n.983+7G>A)
c.601G>A (p.Val201Ile)
19g.3595731A>CCA403330042TBXA2Rc.989T>G (p.Leu330Arg)
c.983+6T>G (n.983+6T>G)
c.600T>G (p.Ala200=)
19g.3595731A>GCA403330044TBXA2Rc.989T>C (p.Leu330Pro)
c.983+6T>C (n.983+6T>C)
c.600T>C (p.Ala200=)
 gnomAD v4
19g.3595731A>TCA403330047TBXA2Rc.989T>A (p.Leu330Gln)
c.983+6T>A (n.983+6T>A)
c.600T>A (p.Ala200=)
19g.3595732G>ACA403330049TBXA2Rc.988C>T (p.Leu330=)
c.983+5C>T (n.983+5C>T)
c.599C>T (p.Ala200Val)
19g.3595732G>CCA403330052TBXA2Rc.988C>G (p.Leu330Val)
c.983+5C>G (n.983+5C>G)
c.599C>G (p.Ala200Gly)
19g.3595732G=CA2318945817TBXA2Rc.988C= (p.Leu330=)
c.983+5C= (n.983+5C=)
c.599C= (p.Ala200=)
19g.3595732G>TCA9080722TBXA2Rc.988C>A (p.Leu330Met)
c.983+5C>A (n.983+5C>A)
c.599C>A (p.Ala200Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595733C>ACA403330058TBXA2Rc.987G>T (p.Ser329=)
c.983+4G>T (n.983+4G>T)
c.598G>T (p.Ala200Ser)
 gnomAD v4
19g.3595733C=CA2318945818TBXA2Rc.987G= (p.Ser329=)
c.983+4G= (n.983+4G=)
c.598G= (p.Ala200=)
19g.3595733C>GCA403330062TBXA2Rc.987G>C (p.Ser329=)
c.983+4G>C (n.983+4G>C)
c.598G>C (p.Ala200Pro)
19g.3595733C>TCA403330060TBXA2Rc.987G>A (p.Ser329=)
c.983+4G>A (n.983+4G>A)
c.598G>A (p.Ala200Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595734G>ACA304367890TBXA2Rc.986C>T (p.Ser329Leu)
c.983+3C>T (n.983+3C>T)
c.597C>T (p.Val199=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595734G>CCA403330066TBXA2Rc.986C>G (p.Ser329Trp)
c.983+3C>G (n.983+3C>G)
c.597C>G (p.Val199=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595734G=CA2318945819TBXA2Rc.986C= (p.Ser329=)
c.983+3C= (n.983+3C=)
c.597C= (p.Val199=)
19g.3595734G>TCA403330068TBXA2Rc.986C>A (p.Ser329Ter)
c.983+3C>A (n.983+3C>A)
c.597C>A (p.Val199=)
 gnomAD v4
19g.3595735A>CCA403330071TBXA2Rc.985T>G (p.Ser329Ala)
c.983+2T>G (n.983+2T>G)
c.596T>G (p.Val199Gly)
19g.3595735A>GCA403330073TBXA2Rc.985T>C (p.Ser329Pro)
c.983+2T>C (n.983+2T>C)
c.596T>C (p.Val199Ala)
19g.3595735A>TCA403330076TBXA2Rc.985T>A (p.Ser329Thr)
c.983+2T>A (n.983+2T>A)
c.596T>A (p.Val199Asp)
19g.3595736C>ACA403330083TBXA2Rc.984G>T (p.Arg328Ser)
c.983+1G>T (n.983+1G>T)
c.595G>T (p.Val199Phe)
 gnomAD v4
19g.3595736C>GCA403330084TBXA2Rc.984G>C (p.Arg328Ser)
c.983+1G>C (n.983+1G>C)
c.595G>C (p.Val199Leu)
19g.3595736C>TCA403330085TBXA2Rc.984G>A (p.Arg328=)
c.983+1G>A (n.983+1G>A)
c.595G>A (p.Val199Ile)
19g.3595737C>ACA403330086TBXA2Rc.983G>T (p.Arg328Met)
c.983G>T (p.Arg328Ile)
c.594G>T (p.Gln198His)
19g.3595737C=CA2318945820TBXA2Rc.983G= (p.Arg328=)
c.594G= (p.Gln198=)
19g.3595737C>GCA9080723TBXA2Rc.983G>C (p.Arg328Thr)
c.594G>C (p.Gln198His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595737C>TCA403330088TBXA2Rc.983G>A (p.Arg328Lys)
c.594G>A (p.Gln198=)
19g.3595738T>ACA403330094TBXA2Rc.982A>T (p.Arg328Trp)
c.982A>T (p.Arg328Ter)
c.593A>T (p.Gln198Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595738T>CCA9080724TBXA2Rc.982A>G (p.Arg328Gly)
c.593A>G (p.Gln198Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595738T>GCA403330091TBXA2Rc.982A>C (p.Arg328=)
c.593A>C (p.Gln198Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.3595738T=CA2318945821TBXA2Rc.982A= (p.Arg328=)
c.593A= (p.Gln198=)
19g.3595739G>ACA403330096TBXA2Rc.981C>T (p.Pro327=)
c.592C>T (p.Gln198Ter)
19g.3595739G>CCA403330098TBXA2Rc.981C>G (p.Pro327=)
c.592C>G (p.Gln198Glu)
19g.3595739G>TCA403330100TBXA2Rc.981C>A (p.Pro327=)
c.592C>A (p.Gln198Lys)
19g.3595740G>ACA403330103TBXA2Rc.980C>T (p.Pro327Leu)
c.591C>T (p.Ala197=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595740G>CCA403330105TBXA2Rc.980C>G (p.Pro327Arg)
c.591C>G (p.Ala197=)
19g.3595740G=CA2318945822TBXA2Rc.980C= (p.Pro327=)
c.591C= (p.Ala197=)
19g.3595740G>TCA403330106TBXA2Rc.980C>A (p.Pro327His)
c.591C>A (p.Ala197=)
19g.3595741G>ACA403330107TBXA2Rc.979C>T (p.Pro327Ser)
c.590C>T (p.Ala197Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595741G>CCA403330108TBXA2Rc.979C>G (p.Pro327Ala)
c.590C>G (p.Ala197Gly)
19g.3595741G=CA2318945823TBXA2Rc.979C= (p.Pro327=)
c.590C= (p.Ala197=)
19g.3595741G>TCA403330109TBXA2Rc.979C>A (p.Pro327Thr)
c.590C>A (p.Ala197Asp)
 gnomAD v4
19g.3595742C>ACA403330111TBXA2Rc.978G>T (p.Arg326=)
c.589G>T (p.Ala197Ser)
 gnomAD v4
19g.3595742C>GCA403330113TBXA2Rc.978G>C (p.Arg326=)
c.589G>C (p.Ala197Pro)
19g.3595742C>TCA403330114TBXA2Rc.978G>A (p.Arg326=)
c.589G>A (p.Ala197Thr)
19g.3595743C>ACA403330119TBXA2Rc.977G>T (p.Arg326Leu)
c.588G>T (p.Pro196=)
 gnomAD v4
19g.3595743C=CA2318945824TBXA2Rc.977G= (p.Arg326=)
c.588G= (p.Pro196=)
19g.3595743C>GCA403330118TBXA2Rc.977G>C (p.Arg326Pro)
c.588G>C (p.Pro196=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595743C>TCA9080725TBXA2Rc.977G>A (p.Arg326Gln)
c.588G>A (p.Pro196=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595744G>ACA9080726TBXA2Rc.976C>T (p.Arg326Trp)
c.587C>T (p.Pro196Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595744G>CCA403330133TBXA2Rc.976C>G (p.Arg326Gly)
c.587C>G (p.Pro196Arg)
19g.3595744G=CA2318945825TBXA2Rc.976C= (p.Arg326=)
c.587C= (p.Pro196=)
19g.3595744G>TCA403330123TBXA2Rc.976C>A (p.Arg326=)
c.587C>A (p.Pro196Gln)
 gnomAD v4
19g.3595745G>ACA403330139TBXA2Rc.975C>T (p.Thr325=)
c.586C>T (p.Pro196Ser)
19g.3595745G>CCA403330142TBXA2Rc.975C>G (p.Thr325=)
c.586C>G (p.Pro196Ala)
 gnomAD v4
19g.3595745G>TCA403330145TBXA2Rc.975C>A (p.Thr325=)
c.586C>A (p.Pro196Thr)
 gnomAD v4
19g.3595746G>ACA403330149TBXA2Rc.974C>T (p.Thr325Ile)
c.585C>T (p.His195=)
19g.3595746G>CCA403330153TBXA2Rc.974C>G (p.Thr325Ser)
c.585C>G (p.His195Gln)
19g.3595746G>TCA403330155TBXA2Rc.974C>A (p.Thr325Asn)
c.585C>A (p.His195Gln)
19g.3595747T>ACA403330158TBXA2Rc.973A>T (p.Thr325Ser)
c.584A>T (p.His195Leu)
19g.3595747T>CCA403330161TBXA2Rc.973A>G (p.Thr325Ala)
c.584A>G (p.His195Arg)
 dbSNP gnomAD v2
19g.3595747T>GCA403330165TBXA2Rc.973A>C (p.Thr325Pro)
c.584A>C (p.His195Pro)
19g.3595747T=CA2318945827TBXA2Rc.973A= (p.Thr325=)
c.584A= (p.His195=)
19g.3595747_3595758delinsTGCTGAGGCGAGCA2318945826TBXA2Rc.962_973delinsCTCGCCTCAGCA (p.Pro321=)
c.573_584delinsCTCGCCTCAGCA (p.Ala191=)
19g.3595748G>ACA403330170TBXA2Rc.972C>T (p.Ser324=)
c.583C>T (p.His195Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595748G>CCA403330181TBXA2Rc.972C>G (p.Ser324Arg)
c.583C>G (p.His195Asp)
19g.3595748G=CA2318945828TBXA2Rc.972C= (p.Ser324=)
c.583C= (p.His195=)
19g.3595748G>TCA403330183TBXA2Rc.972C>A (p.Ser324Arg)
c.583C>A (p.His195Asn)
 gnomAD v4
19g.3595752_3595762delCA881803962TBXA2Rc.962_972del (p.Pro321HisfsTer?)
c.573_583del (p.Ser192ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.3595749C>ACA403330192TBXA2Rc.971G>T (p.Ser324Ile)
c.582G>T (p.Gln194His)
19g.3595749C>GCA403330186TBXA2Rc.971G>C (p.Ser324Thr)
c.582G>C (p.Gln194His)
19g.3595749C>TCA403330189TBXA2Rc.971G>A (p.Ser324Asn)
c.582G>A (p.Gln194=)
 gnomAD v4
19g.3595750T>ACA403330197TBXA2Rc.970A>T (p.Ser324Cys)
c.581A>T (p.Gln194Leu)
19g.3595750T>CCA403330200TBXA2Rc.970A>G (p.Ser324Gly)
c.581A>G (p.Gln194Arg)
19g.3595750T>GCA403330206TBXA2Rc.970A>C (p.Ser324Arg)
c.581A>C (p.Gln194Pro)
19g.3595751G>ACA403330208TBXA2Rc.969C>T (p.Leu323=)
c.580C>T (p.Gln194Ter)
19g.3595751G>CCA403330212TBXA2Rc.969C>G (p.Leu323=)
c.580C>G (p.Gln194Glu)
19g.3595751G>TCA403330216TBXA2Rc.969C>A (p.Leu323=)
c.580C>A (p.Gln194Lys)
19g.3595752A>CCA403330219TBXA2Rc.968T>G (p.Leu323Arg)
c.579T>G (p.Pro193=)
19g.3595752A>GCA403330222TBXA2Rc.968T>C (p.Leu323Pro)
c.579T>C (p.Pro193=)
19g.3595752A>TCA403330224TBXA2Rc.968T>A (p.Leu323His)
c.579T>A (p.Pro193=)
19g.3595753G>ACA403330229TBXA2Rc.967C>T (p.Leu323Phe)
c.578C>T (p.Pro193Leu)
19g.3595753G>CCA403330240TBXA2Rc.967C>G (p.Leu323Val)
c.578C>G (p.Pro193Arg)
19g.3595753G>TCA403330244TBXA2Rc.967C>A (p.Leu323Ile)
c.578C>A (p.Pro193His)
19g.3595754G>ACA403330253TBXA2Rc.966C>T (p.Arg322=)
c.577C>T (p.Pro193Ser)
19g.3595754G>CCA403330250TBXA2Rc.966C>G (p.Arg322=)
c.577C>G (p.Pro193Ala)
19g.3595754G>TCA403330247TBXA2Rc.966C>A (p.Arg322=)
c.577C>A (p.Pro193Thr)
 gnomAD v4
19g.3595755C>ACA403330259TBXA2Rc.965G>T (p.Arg322Leu)
c.576G>T (p.Ser192=)
 gnomAD v4
19g.3595755C=CA2318945829TBXA2Rc.965G= (p.Arg322=)
c.576G= (p.Ser192=)
19g.3595755C>GCA403330255TBXA2Rc.965G>C (p.Arg322Pro)
c.576G>C (p.Ser192=)
 gnomAD v4
19g.3595755C>TCA9080727TBXA2Rc.965G>A (p.Arg322His)
c.576G>A (p.Ser192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>ACA403330262TBXA2Rc.964C>T (p.Arg322Cys)
c.575C>T (p.Ser192Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>CCA403330264TBXA2Rc.964C>G (p.Arg322Gly)
c.575C>G (p.Ser192Trp)
 gnomAD v4
19g.3595756G=CA2318945830TBXA2Rc.964C= (p.Arg322=)
c.575C= (p.Ser192=)
19g.3595756G>TCA403330279TBXA2Rc.964C>A (p.Arg322Ser)
c.575C>A (p.Ser192Ter)
 dbSNP
19g.3595757A=CA2318945831TBXA2Rc.963T= (p.Pro321=)
c.574T= (p.Ser192=)
19g.3595757A>CCA403330287TBXA2Rc.963T>G (p.Pro321=)
c.574T>G (p.Ser192Ala)
19g.3595757A>GCA403330284TBXA2Rc.963T>C (p.Pro321=)
c.574T>C (p.Ser192Pro)
 dbSNP
19g.3595757A>TCA9080728TBXA2Rc.963T>A (p.Pro321=)
c.574T>A (p.Ser192Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595758G>ACA403330290TBXA2Rc.962C>T (p.Pro321Leu)
c.573C>T (p.Ala191=)
 gnomAD v4
19g.3595758G>CCA403330294TBXA2Rc.962C>G (p.Pro321Arg)
c.573C>G (p.Ala191=)
 dbSNP
19g.3595758G=CA2318945833TBXA2Rc.962C= (p.Pro321=)
c.573C= (p.Ala191=)
19g.3595758G>TCA403330296TBXA2Rc.962C>A (p.Pro321His)
c.573C>A (p.Ala191=)
19g.3595758_3595767delinsGGCTGGAGACCA2318945832TBXA2Rc.953_962delinsGTCTCCAGCC (p.Arg318=)
c.564_573delinsGTCTCCAGCC (p.Ala188=)
19g.3595759G>ACA403330297TBXA2Rc.961C>T (p.Pro321Ser)
c.572C>T (p.Ala191Val)
 gnomAD v4
19g.3595759G>CCA403330298TBXA2Rc.961C>G (p.Pro321Ala)
c.572C>G (p.Ala191Gly)
19g.3595759G>TCA403330301TBXA2Rc.961C>A (p.Pro321Thr)
c.572C>A (p.Ala191Asp)
19g.3595761_3595769delCA881803980TBXA2Rc.953_961del (p.Arg318_Gln320del)
c.564_572del (p.Ser189_Ala191del)
 dbSNP
19g.3595760C>ACA403330304TBXA2Rc.960G>T (p.Gln320His)
c.571G>T (p.Ala191Ser)
 gnomAD v4
19g.3595760C>GCA403330314TBXA2Rc.960G>C (p.Gln320His)
c.571G>C (p.Ala191Pro)
 gnomAD v4
19g.3595760C>TCA403330311TBXA2Rc.960G>A (p.Gln320=)
c.571G>A (p.Ala191Thr)
19g.3595761T>ACA403330317TBXA2Rc.959A>T (p.Gln320Leu)
c.570A>T (p.Pro190=)
19g.3595761T>CCA403330320TBXA2Rc.959A>G (p.Gln320Arg)
c.570A>G (p.Pro190=)
19g.3595761T>GCA403330322TBXA2Rc.959A>C (p.Gln320Pro)
c.570A>C (p.Pro190=)
19g.3595762G>ACA403330326TBXA2Rc.958C>T (p.Gln320Ter)
c.569C>T (p.Pro190Leu)
 gnomAD v4
19g.3595762G>CCA403330327TBXA2Rc.958C>G (p.Gln320Glu)
c.569C>G (p.Pro190Arg)
19g.3595762G>TCA403330329TBXA2Rc.958C>A (p.Gln320Lys)
c.569C>A (p.Pro190Gln)
19g.3595763delCA2584493819TBXA2Rc.958del (p.Gln320SerfsTer?)
c.569del (p.Pro190GlnfsTer25)
 gnomAD v4
19g.3595763G>ACA403330332TBXA2Rc.957C>T (p.Leu319=)
c.568C>T (p.Pro190Ser)
19g.3595763G>CCA9080729TBXA2Rc.957C>G (p.Leu319=)
c.568C>G (p.Pro190Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595763G=CA2318945834TBXA2Rc.957C= (p.Leu319=)
c.568C= (p.Pro190=)
19g.3595763G>TCA403330337TBXA2Rc.957C>A (p.Leu319=)
c.568C>A (p.Pro190Thr)
19g.3595764A>CCA403330339TBXA2Rc.956T>G (p.Leu319Arg)
c.567T>G (p.Ser189=)
19g.3595764A>GCA403330340TBXA2Rc.956T>C (p.Leu319Pro)
c.567T>C (p.Ser189=)
19g.3595764A>TCA403330341TBXA2Rc.956T>A (p.Leu319His)
c.567T>A (p.Ser189=)
19g.3595765G>ACA403330343TBXA2Rc.955C>T (p.Leu319Phe)
c.566C>T (p.Ser189Phe)
19g.3595765G>CCA403330345TBXA2Rc.955C>G (p.Leu319Val)
c.566C>G (p.Ser189Cys)
19g.3595765G>TCA403330342TBXA2Rc.955C>A (p.Leu319Ile)
c.566C>A (p.Ser189Tyr)
 gnomAD v4
19g.3595766A=CA2318945835TBXA2Rc.954T= (p.Arg318=)
c.565T= (p.Ser189=)
19g.3595766A>CCA403330346TBXA2Rc.954T>G (p.Arg318=)
c.565T>G (p.Ser189Ala)
19g.3595766A>GCA9080730TBXA2Rc.954T>C (p.Arg318=)
c.565T>C (p.Ser189Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595766A>TCA403330348TBXA2Rc.954T>A (p.Arg318=)
c.565T>A (p.Ser189Thr)
19g.3595767C>ACA403330352TBXA2Rc.953G>T (p.Arg318Leu)
c.564G>T (p.Ala188=)
 gnomAD v4
19g.3595767C=CA2318945836TBXA2Rc.953G= (p.Arg318=)
c.564G= (p.Ala188=)
19g.3595767C>GCA403330355TBXA2Rc.953G>C (p.Arg318Pro)
c.564G>C (p.Ala188=)
19g.3595767C>TCA403330356TBXA2Rc.953G>A (p.Arg318His)
c.564G>A (p.Ala188=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595767_3595773delinsCGCCGGACA2318945837TBXA2Rc.947_953delinsTCCGGCG (p.Leu316=)
c.558_564delinsTCCGGCG (p.Ala186=)
19g.3595768G>ACA403330361TBXA2Rc.952C>T (p.Arg318Cys)
c.563C>T (p.Ala188Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595768G>CCA9080731TBXA2Rc.952C>G (p.Arg318Gly)
c.563C>G (p.Ala188Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595768G=CA2318945839TBXA2Rc.952C= (p.Arg318=)
c.563C= (p.Ala188=)
19g.3595768G>TCA403330359TBXA2Rc.952C>A (p.Arg318Ser)
c.563C>A (p.Ala188Glu)
19g.3595770_3595775delCA2318945838TBXA2Rc.947_952del (p.Leu316_Arg317del)
c.558_563del (p.Pro187_Ala188del)
 dbSNP
19g.3595769C>ACA403330363TBXA2Rc.951G>T (p.Arg317=)
c.562G>T (p.Ala188Ser)
 gnomAD v4
19g.3595769C=CA2318945840TBXA2Rc.951G= (p.Arg317=)
c.562G= (p.Ala188=)
19g.3595769C>GCA403330367TBXA2Rc.951G>C (p.Arg317=)
c.562G>C (p.Ala188Pro)
19g.3595769C>TCA9080732TBXA2Rc.951G>A (p.Arg317=)
c.562G>A (p.Ala188Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595770C>ACA9080734TBXA2Rc.950G>T (p.Arg317Leu)
c.561G>T (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595770C=CA2318945841TBXA2Rc.950G= (p.Arg317=)
c.561G= (p.Pro187=)
19g.3595770C>GCA403330371TBXA2Rc.950G>C (p.Arg317Pro)
c.561G>C (p.Pro187=)
19g.3595770C>TCA9080733TBXA2Rc.950G>A (p.Arg317Gln)
c.561G>A (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G>ACA9080735TBXA2Rc.949C>T (p.Arg317Trp)
c.560C>T (p.Pro187Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595771G>CCA9080736TBXA2Rc.949C>G (p.Arg317Gly)
c.560C>G (p.Pro187Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G=CA2318945842TBXA2Rc.949C= (p.Arg317=)
c.560C= (p.Pro187=)
19g.3595771G>TCA403330376TBXA2Rc.949C>A (p.Arg317=)
c.560C>A (p.Pro187Gln)
 gnomAD v4
19g.3595772G>ACA403330387TBXA2Rc.948C>T (p.Leu316=)
c.559C>T (p.Pro187Ser)
 dbSNP
19g.3595772G>CCA403330389TBXA2Rc.948C>G (p.Leu316=)
c.559C>G (p.Pro187Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.3595772G=CA2318945843TBXA2Rc.948C= (p.Leu316=)
c.559C= (p.Pro187=)
19g.3595772G>TCA403330392TBXA2Rc.948C>A (p.Leu316=)
c.559C>A (p.Pro187Thr)
19g.3595773A>CCA403330398TBXA2Rc.947T>G (p.Leu316Arg)
c.558T>G (p.Ala186=)
19g.3595773A>GCA403330399TBXA2Rc.947T>C (p.Leu316Pro)
c.558T>C (p.Ala186=)
19g.3595773A>TCA403330401TBXA2Rc.947T>A (p.Leu316His)
c.558T>A (p.Ala186=)
19g.3595774G>ACA403330403TBXA2Rc.946C>T (p.Leu316Phe)
c.557C>T (p.Ala186Val)
 gnomAD v4
19g.3595774G>CCA403330404TBXA2Rc.946C>G (p.Leu316Val)
c.557C>G (p.Ala186Gly)
19g.3595774G=CA2318945844TBXA2Rc.946C= (p.Leu316=)
c.557C= (p.Ala186=)
19g.3595774G>TCA403330410TBXA2Rc.946C>A (p.Leu316Ile)
c.557C>A (p.Ala186Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595776_3595780delCA2584493820TBXA2Rc.942_946del (p.Val315ProfsTer?)
c.553_557del (p.Arg185SerfsTer?)
 gnomAD v4
19g.3595775C>ACA403330413TBXA2Rc.945G>T (p.Val315=)
c.556G>T (p.Ala186Ser)
 gnomAD v4
19g.3595775C>GCA403330417TBXA2Rc.945G>C (p.Val315=)
c.556G>C (p.Ala186Pro)
19g.3595775C>TCA403330420TBXA2Rc.945G>A (p.Val315=)
c.556G>A (p.Ala186Thr)
19g.3595776A>CCA403330421TBXA2Rc.944T>G (p.Val315Gly)
c.555T>G (p.Arg185=)
19g.3595776A>GCA403330425TBXA2Rc.944T>C (p.Val315Ala)
c.555T>C (p.Arg185=)
 gnomAD v4
19g.3595776A>TCA403330424TBXA2Rc.944T>A (p.Val315Glu)
c.555T>A (p.Arg185=)
19g.3595777C>ACA403330432TBXA2Rc.943G>T (p.Val315Leu)
c.554G>T (p.Arg185Leu)
19g.3595777C=CA2318945845TBXA2Rc.943G= (p.Val315=)
c.554G= (p.Arg185=)
19g.3595777C>GCA403330434TBXA2Rc.943G>C (p.Val315Leu)
c.554G>C (p.Arg185Pro)
19g.3595777C>TCA403330435TBXA2Rc.943G>A (p.Val315Met)
c.554G>A (p.Arg185His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>ACA9080737TBXA2Rc.942C>T (p.Ala314=)
c.553C>T (p.Arg185Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>CCA403330438TBXA2Rc.942C>G (p.Ala314=)
c.553C>G (p.Arg185Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.3595778G=CA2318945846TBXA2Rc.942C= (p.Ala314=)
c.553C= (p.Arg185=)
19g.3595778G>TCA403330439TBXA2Rc.942C>A (p.Ala314=)
c.553C>A (p.Arg185Ser)
 gnomAD v4
19g.3595779G>ACA403330441TBXA2Rc.941C>T (p.Ala314Val)
c.552C>T (p.Arg184=)
 gnomAD v4
19g.3595779G>CCA403330443TBXA2Rc.941C>G (p.Ala314Gly)
c.552C>G (p.Arg184=)
19g.3595779G>TCA403330449TBXA2Rc.941C>A (p.Ala314Asp)
c.552C>A (p.Arg184=)
19g.3595780_3595783dupCA631712353TBXA2Rc.938_941dup (p.Val315ArgfsTer?)
c.549_552dup (p.Arg185AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.3595780C>ACA403330452TBXA2Rc.940G>T (p.Ala314Ser)
c.551G>T (p.Arg184Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595780C=CA2318945847TBXA2Rc.940G= (p.Ala314=)
c.551G= (p.Arg184=)
19g.3595780C>GCA403330453TBXA2Rc.940G>C (p.Ala314Pro)
c.551G>C (p.Arg184Pro)
19g.3595780C>TCA403330456TBXA2Rc.940G>A (p.Ala314Thr)
c.551G>A (p.Arg184His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595781G>ACA9080738TBXA2Rc.939C>T (p.Arg313=)
c.550C>T (p.Arg184Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595781G>CCA403330460TBXA2Rc.939C>G (p.Arg313=)
c.550C>G (p.Arg184Gly)
19g.3595781G=CA2318945848TBXA2Rc.939C= (p.Arg313=)
c.550C= (p.Arg184=)
19g.3595781G>TCA403330459TBXA2Rc.939C>A (p.Arg313=)
c.550C>A (p.Arg184Ser)
19g.3595782C>ACA403330464TBXA2Rc.938G>T (p.Arg313Leu)
c.549G>T (p.Pro183=)
 gnomAD v4
19g.3595782C=CA2318945849TBXA2Rc.938G= (p.Arg313=)
c.549G= (p.Pro183=)
19g.3595782C>GCA403330466TBXA2Rc.938G>C (p.Arg313Pro)
c.549G>C (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595782C>TCA403330467TBXA2Rc.938G>A (p.Arg313His)
c.549G>A (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595783G>ACA304367902TBXA2Rc.937C>T (p.Arg313Cys)
c.548C>T (p.Pro183Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595783G>CCA403330471TBXA2Rc.937C>G (p.Arg313Gly)
c.548C>G (p.Pro183Arg)
19g.3595783G=CA2318945850TBXA2Rc.937C= (p.Arg313=)
c.548C= (p.Pro183=)
19g.3595783G>TCA403330474TBXA2Rc.937C>A (p.Arg313Ser)
c.548C>A (p.Pro183Gln)
19g.3595784G>ACA403330477TBXA2Rc.936C>T (p.Arg312=)
c.547C>T (p.Pro183Ser)
 COSMIC COSMIC
19g.3595784G>CCA403330482TBXA2Rc.936C>G (p.Arg312=)
c.547C>G (p.Pro183Ala)
19g.3595784G>TCA403330483TBXA2Rc.936C>A (p.Arg312=)
c.547C>A (p.Pro183Thr)
19g.3595784_3595785delinsGCCA2318945851TBXA2Rc.935_936delinsGC (p.Arg312=)
c.546_547delinsGC (p.Pro182=)
19g.3595785delCA920042087TBXA2Rc.935del (p.Arg312ProfsTer?)
c.546del (p.Pro183ArgfsTer?)
 dbSNP
19g.3595785C>ACA403330484TBXA2Rc.935G>T (p.Arg312Leu)
c.546G>T (p.Pro182=)
 gnomAD v4
19g.3595785C=CA2318945852TBXA2Rc.935G= (p.Arg312=)
c.546G= (p.Pro182=)
19g.3595785C>GCA403330487TBXA2Rc.935G>C (p.Arg312Pro)
c.546G>C (p.Pro182=)
19g.3595785C>TCA9080739TBXA2Rc.935G>A (p.Arg312His)
c.546G>A (p.Pro182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595786G>ACA403330496TBXA2Rc.934C>T (p.Arg312Cys)
c.545C>T (p.Pro182Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.3595786G>CCA403330492TBXA2Rc.934C>G (p.Arg312Gly)
c.545C>G (p.Pro182Arg)
19g.3595786G=CA2318945853TBXA2Rc.934C= (p.Arg312=)
c.545C= (p.Pro182=)
19g.3595786G>TCA403330494TBXA2Rc.934C>A (p.Arg312Ser)
c.545C>A (p.Pro182Gln)
19g.3595787G>ACA403330498TBXA2Rc.933C>T (p.Phe311=)
c.544C>T (p.Pro182Ser)
19g.3595787G>CCA403330499TBXA2Rc.933C>G (p.Phe311Leu)
c.544C>G (p.Pro182Ala)
 gnomAD v4
19g.3595787G>TCA403330504TBXA2Rc.933C>A (p.Phe311Leu)
c.544C>A (p.Pro182Thr)
 gnomAD v4
19g.3595788A>CCA403330505TBXA2Rc.932T>G (p.Phe311Cys)
c.543T>G (p.Val181=)
19g.3595788A>GCA403330507TBXA2Rc.932T>C (p.Phe311Ser)
c.543T>C (p.Val181=)
19g.3595788A>TCA403330508TBXA2Rc.932T>A (p.Phe311Tyr)
c.543T>A (p.Val181=)
19g.3595789A=CA2318945854TBXA2Rc.931T= (p.Phe311=)
c.542T= (p.Val181=)
19g.3595789A>CCA403330514TBXA2Rc.931T>G (p.Phe311Val)
c.542T>G (p.Val181Gly)
19g.3595789A>GCA403330510TBXA2Rc.931T>C (p.Phe311Leu)
c.542T>C (p.Val181Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.3595789A>TCA403330509TBXA2Rc.931T>A (p.Phe311Ile)
c.542T>A (p.Val181Asp)
19g.3595790C>ACA403330516TBXA2Rc.930G>T (p.Leu310=)
c.541G>T (p.Val181Phe)
 gnomAD v4
19g.3595790C>GCA403330518TBXA2Rc.930G>C (p.Leu310=)
c.541G>C (p.Val181Leu)
19g.3595790C>TCA403330519TBXA2Rc.930G>A (p.Leu310=)
c.541G>A (p.Val181Ile)
19g.3595791A>CCA403330521TBXA2Rc.929T>G (p.Leu310Arg)
c.540T>G (p.Pro180=)
19g.3595791A>GCA403330523TBXA2Rc.929T>C (p.Leu310Pro)
c.540T>C (p.Pro180=)
19g.3595791A>TCA403330525TBXA2Rc.929T>A (p.Leu310Gln)
c.540T>A (p.Pro180=)
19g.3595792G>ACA403330528TBXA2Rc.928C>T (p.Leu310=)
c.539C>T (p.Pro180Leu)
19g.3595792G>CCA403330534TBXA2Rc.928C>G (p.Leu310Val)
c.539C>G (p.Pro180Arg)
19g.3595792G>TCA403330530TBXA2Rc.928C>A (p.Leu310Met)
c.539C>A (p.Pro180His)
19g.3595793G>ACA403330536TBXA2Rc.927C>T (p.Ile309=)
c.538C>T (p.Pro180Ser)
 gnomAD v4 COSMIC COSMIC
19g.3595793G>CCA403330538TBXA2Rc.927C>G (p.Ile309Met)
c.538C>G (p.Pro180Ala)
19g.3595793G=CA2318945855TBXA2Rc.927C= (p.Ile309=)
c.538C= (p.Pro180=)
19g.3595793G>TCA403330540TBXA2Rc.927C>A (p.Ile309=)
c.538C>A (p.Pro180Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.3595794A>CCA403330541TBXA2Rc.926T>G (p.Ile309Ser)
c.537T>G (p.Tyr179Ter)
 gnomAD v4
19g.3595794A>GCA403330542TBXA2Rc.926T>C (p.Ile309Thr)
c.537T>C (p.Tyr179=)
19g.3595794A>TCA403330544TBXA2Rc.926T>A (p.Ile309Asn)
c.537T>A (p.Tyr179Ter)
19g.3595795T>ACA403330546TBXA2Rc.925A>T (p.Ile309Phe)
c.536A>T (p.Tyr179Phe)
 gnomAD v4
19g.3595795T>CCA403330549TBXA2Rc.925A>G (p.Ile309Val)
c.536A>G (p.Tyr179Cys)
19g.3595795T>GCA403330551TBXA2Rc.925A>C (p.Ile309Leu)
c.536A>C (p.Tyr179Ser)
19g.3595796A=CA2318945856TBXA2Rc.924T= (p.Tyr308=)
c.535T= (p.Tyr179=)
19g.3595796A>CCA403330552TBXA2Rc.924T>G (p.Tyr308Ter)
c.535T>G (p.Tyr179Asp)
19g.3595796A>GCA9080740TBXA2Rc.924T>C (p.Tyr308=)
c.535T>C (p.Tyr179His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595796A>TCA403330554TBXA2Rc.924T>A (p.Tyr308Ter)
c.535T>A (p.Tyr179Asn)
19g.3595796_3595797insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATGCA992743728TBXA2Rc.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlySerArgTrpThrProGlyCys)
c.534_535insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Val178_Tyr179insHisProValProGlnGlySerArgIleTrpPheGlnValAspProTrpVal)
 gnomAD v3 gnomAD v4
19g.3595797T>ACA403330558TBXA2Rc.923A>T (p.Tyr308Phe)
c.534A>T (p.Val178=)
19g.3595797T>CCA403330555TBXA2Rc.923A>G (p.Tyr308Cys)
c.534A>G (p.Val178=)
19g.3595797T>GCA403330556TBXA2Rc.923A>C (p.Tyr308Ser)
c.534A>C (p.Val178=)
19g.3595798A>CCA403330559TBXA2Rc.922T>G (p.Tyr308Asp)
c.533T>G (p.Val178Gly)
19g.3595798A>GCA403330560TBXA2Rc.922T>C (p.Tyr308His)
c.533T>C (p.Val178Ala)
19g.3595798A>TCA403330562TBXA2Rc.922T>A (p.Tyr308Asn)
c.533T>A (p.Val178Glu)
19g.3595799C>ACA403330563TBXA2Rc.921G>T (p.Val307=)
c.532G>T (p.Val178Leu)
19g.3595799C>GCA403330565TBXA2Rc.921G>C (p.Val307=)
c.532G>C (p.Val178Leu)
19g.3595799C>TCA403330567TBXA2Rc.921G>A (p.Val307=)
c.532G>A (p.Val178Ile)
19g.3595800A>CCA403330573TBXA2Rc.920T>G (p.Val307Gly)
c.531T>G (p.Gly177=)
 gnomAD v4
19g.3595800A>GCA403330571TBXA2Rc.920T>C (p.Val307Ala)
c.531T>C (p.Gly177=)
19g.3595800A>TCA403330570TBXA2Rc.920T>A (p.Val307Glu)
c.531T>A (p.Gly177=)
19g.3595801C>ACA403330574TBXA2Rc.919G>T (p.Val307Leu)
c.530G>T (p.Gly177Val)
19g.3595801C=CA2318945857TBXA2Rc.919G= (p.Val307=)
c.530G= (p.Gly177=)
19g.3595801C>GCA403330575TBXA2Rc.919G>C (p.Val307Leu)
c.530G>C (p.Gly177Ala)
 dbSNP
19g.3595801C>TCA403330576TBXA2Rc.919G>A (p.Val307Met)
c.530G>A (p.Gly177Asp)
 dbSNP gnomAD v4
19g.3595802C>ACA403330578TBXA2Rc.918G>T (p.Trp306Cys)
c.529G>T (p.Gly177Cys)
19g.3595802C=CA2318945858TBXA2Rc.918G= (p.Trp306=)
c.529G= (p.Gly177=)
19g.3595802C>GCA403330580TBXA2Rc.918G>C (p.Trp306Cys)
c.529G>C (p.Gly177Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.3595802C>TCA403330582TBXA2Rc.918G>A (p.Trp306Ter)
c.529G>A (p.Gly177Ser)
 dbSNP gnomAD v4
19g.3595803C>ACA403330584TBXA2Rc.917G>T (p.Trp306Leu)
c.528G>T (p.Leu176=)
19g.3595803C>GCA403330587TBXA2Rc.917G>C (p.Trp306Ser)
c.528G>C (p.Leu176=)
19g.3595803C>TCA403330586TBXA2Rc.917G>A (p.Trp306Ter)
c.528G>A (p.Leu176=)
 ClinVar gnomAD v4
19g.3595804A>CCA403330589TBXA2Rc.916T>G (p.Trp306Gly)
c.527T>G (p.Leu176Arg)
19g.3595804A>GCA403330590TBXA2Rc.916T>C (p.Trp306Arg)
c.527T>C (p.Leu176Pro)
19g.3595804A>TCA403330592TBXA2Rc.916T>A (p.Trp306Arg)
c.527T>A (p.Leu176Gln)
 gnomAD v4
19g.3595805G>ACA505155054TBXA2Rc.915C>T (p.Pro305=)
c.526C>T (p.Leu176=)
19g.3595805G>CCA403330593TBXA2Rc.915C>G (p.Pro305=)
c.526C>G (p.Leu176Val)
19g.3595805G>TCA403330594TBXA2Rc.915C>A (p.Pro305=)
c.526C>A (p.Leu176Met)
 gnomAD v4
19g.3595806G>ACA9080741TBXA2Rc.914C>T (p.Pro305Leu)
c.525C>T (p.Pro175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595806G>CCA403330603TBXA2Rc.914C>G (p.Pro305Arg)
c.525C>G (p.Pro175=)
19g.3595806G=CA2318945859TBXA2Rc.914C= (p.Pro305=)
c.525C= (p.Pro175=)
19g.3595806G>TCA403330604TBXA2Rc.914C>A (p.Pro305His)
c.525C>A (p.Pro175=)
19g.3595807G>ACA403330608TBXA2Rc.913C>T (p.Pro305Ser)
c.524C>T (p.Pro175Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595807G>CCA403330609TBXA2Rc.913C>G (p.Pro305Ala)
c.524C>G (p.Pro175Arg)
19g.3595807G=CA2318945860TBXA2Rc.913C= (p.Pro305=)
c.524C= (p.Pro175=)
19g.3595807G>TCA403330612TBXA2Rc.913C>A (p.Pro305Thr)
c.524C>A (p.Pro175His)
19g.3595808G>ACA403330622TBXA2Rc.912C>T (p.Asp304=)
c.523C>T (p.Pro175Ser)
19g.3595808G>CCA403330616TBXA2Rc.912C>G (p.Asp304Glu)
c.523C>G (p.Pro175Ala)
 gnomAD v4
19g.3595808G>TCA403330620TBXA2Rc.912C>A (p.Asp304Glu)
c.523C>A (p.Pro175Thr)
19g.3595809T>ACA403330625TBXA2Rc.911A>T (p.Asp304Val)
c.522A>T (p.Gly174=)
19g.3595809T>CCA403330626TBXA2Rc.911A>G (p.Asp304Gly)
c.522A>G (p.Gly174=)
 gnomAD v4
19g.3595809T>GCA403330627TBXA2Rc.911A>C (p.Asp304Ala)
c.522A>C (p.Gly174=)
19g.3595810C>ACA403330628TBXA2Rc.910G>T (p.Asp304Tyr)
c.521G>T (p.Gly174Val)
19g.3595810C=CA2318945861TBXA2Rc.910G= (p.Asp304=)
c.521G= (p.Gly174=)
19g.3595810C>GCA403330629TBXA2Rc.910G>C (p.Asp304His)
c.521G>C (p.Gly174Ala)
19g.3595810C>TCA128736TBXA2Rc.910G>A (p.Asp304Asn)
c.521G>A (p.Gly174Glu)
 ClinVar dbSNP gnomAD v4
19g.3595811C>ACA403330639TBXA2Rc.909G>T (p.Leu303=)
c.520G>T (p.Gly174Ter)
 gnomAD v4
19g.3595811C>GCA403330637TBXA2Rc.909G>C (p.Leu303=)
c.520G>C (p.Gly174Arg)
19g.3595811C>TCA403330635TBXA2Rc.909G>A (p.Leu303=)
c.520G>A (p.Gly174Arg)
 gnomAD v4
19g.3595812A=CA2318945862TBXA2Rc.908T= (p.Leu303=)
c.519T= (p.Pro173=)
19g.3595812A>CCA403330643TBXA2Rc.908T>G (p.Leu303Arg)
c.519T>G (p.Pro173=)
19g.3595812A>GCA403330646TBXA2Rc.908T>C (p.Leu303Pro)
c.519T>C (p.Pro173=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595812A>TCA403330649TBXA2Rc.908T>A (p.Leu303Gln)
c.519T>A (p.Pro173=)
19g.3595813G>ACA403330651TBXA2Rc.907C>T (p.Leu303=)
c.518C>T (p.Pro173Leu)
19g.3595813G>CCA403330654TBXA2Rc.907C>G (p.Leu303Val)
c.518C>G (p.Pro173Arg)
19g.3595813G>TCA403330656TBXA2Rc.907C>A (p.Leu303Met)
c.518C>A (p.Pro173His)
 gnomAD v4

Number of alleles fetched