Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11426180_11426182dupCA2582529794ODAD3c.928_930dup (p.Glu310_Lys311insGlu)
c.355_357dup (p.Glu119_Lys120insGlu)
c.748_750dup (p.Glu250_Lys251insGlu)
c.*847_*849dup (n.*847_*849dup)
c.766_768dup (p.Glu256_Lys257insGlu)
c.904+24_904+26dup (n.904+24_904+26dup)
 gnomAD v4
19g.11426180_11426182delCA9212208ODAD3c.928_930del (p.Glu310del)
c.355_357del (p.Glu119del)
c.748_750del (p.Glu250del)
c.*847_*849del (n.*847_*849del)
c.766_768del (p.Glu256del)
c.904+24_904+26del (n.904+24_904+26del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426180C>ACA404122901ODAD3c.927G>T (p.Glu309Asp)
c.354G>T (p.Glu118Asp)
c.747G>T (p.Glu249Asp)
c.*846G>T (n.*846G>T)
c.765G>T (p.Glu255Asp)
c.904+23G>T (n.904+23G>T)
19g.11426180C=CA2322928809ODAD3c.927G= (p.Glu309=)
c.354G= (p.Glu118=)
c.747G= (p.Glu249=)
c.*846G= (n.*846G=)
c.765G= (p.Glu255=)
c.904+23G= (n.904+23G=)
19g.11426180C>GCA404122903ODAD3c.927G>C (p.Glu309Asp)
c.354G>C (p.Glu118Asp)
c.747G>C (p.Glu249Asp)
c.*846G>C (n.*846G>C)
c.765G>C (p.Glu255Asp)
c.904+23G>C (n.904+23G>C)
19g.11426180C>TCA9212209ODAD3c.927G>A (p.Glu309=)
c.354G>A (p.Glu118=)
c.747G>A (p.Glu249=)
c.*846G>A (n.*846G>A)
c.765G>A (p.Glu255=)
c.904+23G>A (n.904+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426181T>ACA404122907ODAD3c.926A>T (p.Glu309Val)
c.353A>T (p.Glu118Val)
c.746A>T (p.Glu249Val)
c.*845A>T (n.*845A>T)
c.764A>T (p.Glu255Val)
c.904+22A>T (n.904+22A>T)
19g.11426181T>CCA404122908ODAD3c.926A>G (p.Glu309Gly)
c.353A>G (p.Glu118Gly)
c.746A>G (p.Glu249Gly)
c.*845A>G (n.*845A>G)
c.764A>G (p.Glu255Gly)
c.904+22A>G (n.904+22A>G)
 dbSNP
19g.11426181T>GCA404122910ODAD3c.926A>C (p.Glu309Ala)
c.353A>C (p.Glu118Ala)
c.746A>C (p.Glu249Ala)
c.*845A>C (n.*845A>C)
c.764A>C (p.Glu255Ala)
c.904+22A>C (n.904+22A>C)
19g.11426181T=CA2322928810ODAD3c.926A= (p.Glu309=)
c.353A= (p.Glu118=)
c.746A= (p.Glu249=)
c.*845A= (n.*845A=)
c.764A= (p.Glu255=)
c.904+22A= (n.904+22A=)
19g.11426182C>ACA170851ODAD3c.925G>T (p.Glu309Ter)
c.352G>T (p.Glu118Ter)
c.745G>T (p.Glu249Ter)
c.*844G>T (n.*844G>T)
c.763G>T (p.Glu255Ter)
c.904+21G>T (n.904+21G>T)
 ClinVar dbSNP
19g.11426182C=CA2322928811ODAD3c.925G= (p.Glu309=)
c.352G= (p.Glu118=)
c.745G= (p.Glu249=)
c.*844G= (n.*844G=)
c.763G= (p.Glu255=)
c.904+21G= (n.904+21G=)
19g.11426182C>GCA404122913ODAD3c.925G>C (p.Glu309Gln)
c.352G>C (p.Glu118Gln)
c.745G>C (p.Glu249Gln)
c.*844G>C (n.*844G>C)
c.763G>C (p.Glu255Gln)
c.904+21G>C (n.904+21G>C)
 dbSNP gnomAD v4
19g.11426182C>TCA404122916ODAD3c.925G>A (p.Glu309Lys)
c.352G>A (p.Glu118Lys)
c.745G>A (p.Glu249Lys)
c.*844G>A (n.*844G>A)
c.763G>A (p.Glu255Lys)
c.904+21G>A (n.904+21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11426183G>ACA9212210ODAD3c.924C>T (p.Ala308=)
c.351C>T (p.Ala117=)
c.744C>T (p.Ala248=)
c.*843C>T (n.*843C>T)
c.762C>T (p.Ala254=)
c.904+20C>T (n.904+20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426183G>CCA505749562ODAD3c.924C>G (p.Ala308=)
c.351C>G (p.Ala117=)
c.744C>G (p.Ala248=)
c.*843C>G (n.*843C>G)
c.762C>G (p.Ala254=)
c.904+20C>G (n.904+20C>G)
 gnomAD v4
19g.11426183G=CA2322928812ODAD3c.924C= (p.Ala308=)
c.351C= (p.Ala117=)
c.744C= (p.Ala248=)
c.*843C= (n.*843C=)
c.762C= (p.Ala254=)
c.904+20C= (n.904+20C=)
19g.11426183G>TCA505749564ODAD3c.924C>A (p.Ala308=)
c.351C>A (p.Ala117=)
c.744C>A (p.Ala248=)
c.*843C>A (n.*843C>A)
c.762C>A (p.Ala254=)
c.904+20C>A (n.904+20C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.11426184G>ACA404122918ODAD3c.923C>T (p.Ala308Val)
c.350C>T (p.Ala117Val)
c.743C>T (p.Ala248Val)
c.*842C>T (n.*842C>T)
c.761C>T (p.Ala254Val)
c.904+19C>T (n.904+19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11426184G>CCA404122920ODAD3c.923C>G (p.Ala308Gly)
c.350C>G (p.Ala117Gly)
c.743C>G (p.Ala248Gly)
c.*842C>G (n.*842C>G)
c.761C>G (p.Ala254Gly)
c.904+19C>G (n.904+19C>G)
19g.11426184G=CA2322928813ODAD3c.923C= (p.Ala308=)
c.350C= (p.Ala117=)
c.743C= (p.Ala248=)
c.*842C= (n.*842C=)
c.761C= (p.Ala254=)
c.904+19C= (n.904+19C=)
19g.11426184G>TCA404122922ODAD3c.923C>A (p.Ala308Asp)
c.350C>A (p.Ala117Asp)
c.743C>A (p.Ala248Asp)
c.*842C>A (n.*842C>A)
c.761C>A (p.Ala254Asp)
c.904+19C>A (n.904+19C>A)
 gnomAD v4
19g.11426185C>ACA404122925ODAD3c.922G>T (p.Ala308Ser)
c.349G>T (p.Ala117Ser)
c.742G>T (p.Ala248Ser)
c.*841G>T (n.*841G>T)
c.760G>T (p.Ala254Ser)
c.904+18G>T (n.904+18G>T)
19g.11426185C=CA2322928814ODAD3c.922G= (p.Ala308=)
c.349G= (p.Ala117=)
c.742G= (p.Ala248=)
c.*841G= (n.*841G=)
c.760G= (p.Ala254=)
c.904+18G= (n.904+18G=)
19g.11426185C>GCA305334448ODAD3c.922G>C (p.Ala308Pro)
c.349G>C (p.Ala117Pro)
c.742G>C (p.Ala248Pro)
c.*841G>C (n.*841G>C)
c.760G>C (p.Ala254Pro)
c.904+18G>C (n.904+18G>C)
 dbSNP
19g.11426185C>TCA9212211ODAD3c.922G>A (p.Ala308Thr)
c.349G>A (p.Ala117Thr)
c.742G>A (p.Ala248Thr)
c.*841G>A (n.*841G>A)
c.760G>A (p.Ala254Thr)
c.904+18G>A (n.904+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426186G>ACA9212212ODAD3c.921C>T (p.Arg307=)
c.348C>T (p.Arg116=)
c.741C>T (p.Arg247=)
c.*840C>T (n.*840C>T)
c.759C>T (p.Arg253=)
c.904+17C>T (n.904+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426186G>CCA9212213ODAD3c.921C>G (p.Arg307=)
c.348C>G (p.Arg116=)
c.741C>G (p.Arg247=)
c.*840C>G (n.*840C>G)
c.759C>G (p.Arg253=)
c.904+17C>G (n.904+17C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426186G=CA2322928815ODAD3c.921C= (p.Arg307=)
c.348C= (p.Arg116=)
c.741C= (p.Arg247=)
c.*840C= (n.*840C=)
c.759C= (p.Arg253=)
c.904+17C= (n.904+17C=)
19g.11426186G>TCA505749567ODAD3c.921C>A (p.Arg307=)
c.348C>A (p.Arg116=)
c.741C>A (p.Arg247=)
c.*840C>A (n.*840C>A)
c.759C>A (p.Arg253=)
c.904+17C>A (n.904+17C>A)
19g.11426187C>ACA404122930ODAD3c.920G>T (p.Arg307Leu)
c.347G>T (p.Arg116Leu)
c.740G>T (p.Arg247Leu)
c.*839G>T (n.*839G>T)
c.758G>T (p.Arg253Leu)
c.904+16G>T (n.904+16G>T)
19g.11426187C=CA2322928816ODAD3c.920G= (p.Arg307=)
c.347G= (p.Arg116=)
c.740G= (p.Arg247=)
c.*839G= (n.*839G=)
c.758G= (p.Arg253=)
c.904+16G= (n.904+16G=)
19g.11426187C>GCA404122931ODAD3c.920G>C (p.Arg307Pro)
c.347G>C (p.Arg116Pro)
c.740G>C (p.Arg247Pro)
c.*839G>C (n.*839G>C)
c.758G>C (p.Arg253Pro)
c.904+16G>C (n.904+16G>C)
19g.11426187C>TCA404122932ODAD3c.920G>A (p.Arg307His)
c.347G>A (p.Arg116His)
c.740G>A (p.Arg247His)
c.*839G>A (n.*839G>A)
c.758G>A (p.Arg253His)
c.904+16G>A (n.904+16G>A)
 dbSNP gnomAD v4 COSMIC
19g.11426188G>ACA9212214ODAD3c.919C>T (p.Arg307Cys)
c.346C>T (p.Arg116Cys)
c.739C>T (p.Arg247Cys)
c.*838C>T (n.*838C>T)
c.757C>T (p.Arg253Cys)
c.904+15C>T (n.904+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426188G>CCA404122936ODAD3c.919C>G (p.Arg307Gly)
c.346C>G (p.Arg116Gly)
c.739C>G (p.Arg247Gly)
c.*838C>G (n.*838C>G)
c.757C>G (p.Arg253Gly)
c.904+15C>G (n.904+15C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11426188G=CA2322928817ODAD3c.919C= (p.Arg307=)
c.346C= (p.Arg116=)
c.739C= (p.Arg247=)
c.*838C= (n.*838C=)
c.757C= (p.Arg253=)
c.904+15C= (n.904+15C=)
19g.11426188G>TCA404122938ODAD3c.919C>A (p.Arg307Ser)
c.346C>A (p.Arg116Ser)
c.739C>A (p.Arg247Ser)
c.*838C>A (n.*838C>A)
c.757C>A (p.Arg253Ser)
c.904+15C>A (n.904+15C>A)
19g.11426189C>ACA404122940ODAD3c.918G>T (p.Lys306Asn)
c.345G>T (p.Lys115Asn)
c.738G>T (p.Lys246Asn)
c.*837G>T (n.*837G>T)
c.756G>T (p.Lys252Asn)
c.904+14G>T (n.904+14G>T)
19g.11426189C>GCA404122941ODAD3c.918G>C (p.Lys306Asn)
c.345G>C (p.Lys115Asn)
c.738G>C (p.Lys246Asn)
c.*837G>C (n.*837G>C)
c.756G>C (p.Lys252Asn)
c.904+14G>C (n.904+14G>C)
19g.11426189C>TCA505749568ODAD3c.918G>A (p.Lys306=)
c.345G>A (p.Lys115=)
c.738G>A (p.Lys246=)
c.*837G>A (n.*837G>A)
c.756G>A (p.Lys252=)
c.904+14G>A (n.904+14G>A)
19g.11426190T>ACA404122944ODAD3c.917A>T (p.Lys306Met)
c.344A>T (p.Lys115Met)
c.737A>T (p.Lys246Met)
c.*836A>T (n.*836A>T)
c.755A>T (p.Lys252Met)
c.904+13A>T (n.904+13A>T)
 dbSNP gnomAD v3 gnomAD v4
19g.11426190T>CCA404122946ODAD3c.917A>G (p.Lys306Arg)
c.344A>G (p.Lys115Arg)
c.737A>G (p.Lys246Arg)
c.*836A>G (n.*836A>G)
c.755A>G (p.Lys252Arg)
c.904+13A>G (n.904+13A>G)
19g.11426190T>GCA404122948ODAD3c.917A>C (p.Lys306Thr)
c.344A>C (p.Lys115Thr)
c.737A>C (p.Lys246Thr)
c.*836A>C (n.*836A>C)
c.755A>C (p.Lys252Thr)
c.904+13A>C (n.904+13A>C)
19g.11426190T=CA2322928818ODAD3c.917A= (p.Lys306=)
c.344A= (p.Lys115=)
c.737A= (p.Lys246=)
c.*836A= (n.*836A=)
c.755A= (p.Lys252=)
c.904+13A= (n.904+13A=)
19g.11426191T>ACA404122952ODAD3c.916A>T (p.Lys306Ter)
c.343A>T (p.Lys115Ter)
c.736A>T (p.Lys246Ter)
c.*835A>T (n.*835A>T)
c.754A>T (p.Lys252Ter)
c.904+12A>T (n.904+12A>T)
19g.11426191T>CCA404122950ODAD3c.916A>G (p.Lys306Glu)
c.343A>G (p.Lys115Glu)
c.736A>G (p.Lys246Glu)
c.*835A>G (n.*835A>G)
c.754A>G (p.Lys252Glu)
c.904+12A>G (n.904+12A>G)
19g.11426191T>GCA404122951ODAD3c.916A>C (p.Lys306Gln)
c.343A>C (p.Lys115Gln)
c.736A>C (p.Lys246Gln)
c.*835A>C (n.*835A>C)
c.754A>C (p.Lys252Gln)
c.904+12A>C (n.904+12A>C)
19g.11426192C>ACA404122955ODAD3c.915G>T (p.Lys305Asn)
c.342G>T (p.Lys114Asn)
c.735G>T (p.Lys245Asn)
c.*834G>T (n.*834G>T)
c.753G>T (p.Lys251Asn)
c.904+11G>T (n.904+11G>T)
19g.11426192C=CA2322928819ODAD3c.915G= (p.Lys305=)
c.342G= (p.Lys114=)
c.735G= (p.Lys245=)
c.*834G= (n.*834G=)
c.753G= (p.Lys251=)
c.904+11G= (n.904+11G=)
19g.11426192C>GCA404122957ODAD3c.915G>C (p.Lys305Asn)
c.342G>C (p.Lys114Asn)
c.735G>C (p.Lys245Asn)
c.*834G>C (n.*834G>C)
c.753G>C (p.Lys251Asn)
c.904+11G>C (n.904+11G>C)
 gnomAD v4
19g.11426192C>TCA9212215ODAD3c.915G>A (p.Lys305=)
c.342G>A (p.Lys114=)
c.735G>A (p.Lys245=)
c.*834G>A (n.*834G>A)
c.753G>A (p.Lys251=)
c.904+11G>A (n.904+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426193T>ACA404122960ODAD3c.914A>T (p.Lys305Met)
c.341A>T (p.Lys114Met)
c.734A>T (p.Lys245Met)
c.*833A>T (n.*833A>T)
c.752A>T (p.Lys251Met)
c.904+10A>T (n.904+10A>T)
19g.11426193T>CCA9212216ODAD3c.914A>G (p.Lys305Arg)
c.341A>G (p.Lys114Arg)
c.734A>G (p.Lys245Arg)
c.*833A>G (n.*833A>G)
c.752A>G (p.Lys251Arg)
c.904+10A>G (n.904+10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11426193T>GCA404122962ODAD3c.914A>C (p.Lys305Thr)
c.341A>C (p.Lys114Thr)
c.734A>C (p.Lys245Thr)
c.*833A>C (n.*833A>C)
c.752A>C (p.Lys251Thr)
c.904+10A>C (n.904+10A>C)
19g.11426193T=CA2322928820ODAD3c.914A= (p.Lys305=)
c.341A= (p.Lys114=)
c.734A= (p.Lys245=)
c.*833A= (n.*833A=)
c.752A= (p.Lys251=)
c.904+10A= (n.904+10A=)
19g.11426194T>ACA404122965ODAD3c.913A>T (p.Lys305Ter)
c.340A>T (p.Lys114Ter)
c.733A>T (p.Lys245Ter)
c.*832A>T (n.*832A>T)
c.751A>T (p.Lys251Ter)
c.904+9A>T (n.904+9A>T)
19g.11426194T>CCA404122967ODAD3c.913A>G (p.Lys305Glu)
c.340A>G (p.Lys114Glu)
c.733A>G (p.Lys245Glu)
c.*832A>G (n.*832A>G)
c.751A>G (p.Lys251Glu)
c.904+9A>G (n.904+9A>G)
 gnomAD v4
19g.11426194T>GCA9212217ODAD3c.913A>C (p.Lys305Gln)
c.340A>C (p.Lys114Gln)
c.733A>C (p.Lys245Gln)
c.*832A>C (n.*832A>C)
c.751A>C (p.Lys251Gln)
c.904+9A>C (n.904+9A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426194T=CA2322928821ODAD3c.913A= (p.Lys305=)
c.340A= (p.Lys114=)
c.733A= (p.Lys245=)
c.*832A= (n.*832A=)
c.751A= (p.Lys251=)
c.904+9A= (n.904+9A=)
19g.11426195delCA2813608682ODAD3c.912del (p.Cys304Ter)
c.339del (p.Cys113Ter)
c.732del (p.Cys244Ter)
c.*831del (n.*831del)
c.750del (p.Cys250Ter)
c.904+8del (n.904+8del)
19g.11426195G>ACA505749569ODAD3c.912C>T (p.Cys304=)
c.339C>T (p.Cys113=)
c.732C>T (p.Cys244=)
c.*831C>T (n.*831C>T)
c.750C>T (p.Cys250=)
c.904+8C>T (n.904+8C>T)
19g.11426195G>CCA404122970ODAD3c.912C>G (p.Cys304Trp)
c.339C>G (p.Cys113Trp)
c.732C>G (p.Cys244Trp)
c.*831C>G (n.*831C>G)
c.750C>G (p.Cys250Trp)
c.904+8C>G (n.904+8C>G)
19g.11426195G>TCA404122972ODAD3c.912C>A (p.Cys304Ter)
c.339C>A (p.Cys113Ter)
c.732C>A (p.Cys244Ter)
c.*831C>A (n.*831C>A)
c.750C>A (p.Cys250Ter)
c.904+8C>A (n.904+8C>A)
19g.11426196C>ACA404122979ODAD3c.911G>T (p.Cys304Phe)
c.338G>T (p.Cys113Phe)
c.731G>T (p.Cys244Phe)
c.*830G>T (n.*830G>T)
c.749G>T (p.Cys250Phe)
c.904+7G>T (n.904+7G>T)
 ClinVar
19g.11426196C>GCA404122977ODAD3c.911G>C (p.Cys304Ser)
c.338G>C (p.Cys113Ser)
c.731G>C (p.Cys244Ser)
c.*830G>C (n.*830G>C)
c.749G>C (p.Cys250Ser)
c.904+7G>C (n.904+7G>C)
19g.11426196C>TCA404122974ODAD3c.911G>A (p.Cys304Tyr)
c.338G>A (p.Cys113Tyr)
c.731G>A (p.Cys244Tyr)
c.*830G>A (n.*830G>A)
c.749G>A (p.Cys250Tyr)
c.904+7G>A (n.904+7G>A)
19g.11426197A=CA2322928822ODAD3c.910T= (p.Cys304=)
c.337T= (p.Cys113=)
c.730T= (p.Cys244=)
c.*829T= (n.*829T=)
c.748T= (p.Cys250=)
c.904+6T= (n.904+6T=)
19g.11426197A>CCA404122982ODAD3c.910T>G (p.Cys304Gly)
c.337T>G (p.Cys113Gly)
c.730T>G (p.Cys244Gly)
c.*829T>G (n.*829T>G)
c.748T>G (p.Cys250Gly)
c.904+6T>G (n.904+6T>G)
19g.11426197A>GCA404122984ODAD3c.910T>C (p.Cys304Arg)
c.337T>C (p.Cys113Arg)
c.730T>C (p.Cys244Arg)
c.*829T>C (n.*829T>C)
c.748T>C (p.Cys250Arg)
c.904+6T>C (n.904+6T>C)
 dbSNP gnomAD v4
19g.11426197A>TCA9212218ODAD3c.910T>A (p.Cys304Ser)
c.337T>A (p.Cys113Ser)
c.730T>A (p.Cys244Ser)
c.*829T>A (n.*829T>A)
c.748T>A (p.Cys250Ser)
c.904+6T>A (n.904+6T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426198C>ACA404122985ODAD3c.909G>T (p.Glu303Asp)
c.336G>T (p.Glu112Asp)
c.729G>T (p.Glu243Asp)
c.*828G>T (n.*828G>T)
c.747G>T (p.Glu249Asp)
c.904+5G>T (n.904+5G>T)
19g.11426198C>GCA404122987ODAD3c.909G>C (p.Glu303Asp)
c.336G>C (p.Glu112Asp)
c.729G>C (p.Glu243Asp)
c.*828G>C (n.*828G>C)
c.747G>C (p.Glu249Asp)
c.904+5G>C (n.904+5G>C)
19g.11426198C>TCA505749570ODAD3c.909G>A (p.Glu303=)
c.336G>A (p.Glu112=)
c.729G>A (p.Glu243=)
c.*828G>A (n.*828G>A)
c.747G>A (p.Glu249=)
c.904+5G>A (n.904+5G>A)
 gnomAD v4
19g.11426199T>ACA404122989ODAD3c.908A>T (p.Glu303Val)
c.335A>T (p.Glu112Val)
c.728A>T (p.Glu243Val)
c.*827A>T (n.*827A>T)
c.746A>T (p.Glu249Val)
c.904+4A>T (n.904+4A>T)
19g.11426199T>CCA404122992ODAD3c.908A>G (p.Glu303Gly)
c.335A>G (p.Glu112Gly)
c.728A>G (p.Glu243Gly)
c.*827A>G (n.*827A>G)
c.746A>G (p.Glu249Gly)
c.904+4A>G (n.904+4A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11426199T>GCA9212219ODAD3c.908A>C (p.Glu303Ala)
c.335A>C (p.Glu112Ala)
c.728A>C (p.Glu243Ala)
c.*827A>C (n.*827A>C)
c.746A>C (p.Glu249Ala)
c.904+4A>C (n.904+4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426199T=CA2322928823ODAD3c.908A= (p.Glu303=)
c.335A= (p.Glu112=)
c.728A= (p.Glu243=)
c.*827A= (n.*827A=)
c.746A= (p.Glu249=)
c.904+4A= (n.904+4A=)
19g.11426200C>ACA404122995ODAD3c.907G>T (p.Glu303Ter)
c.334G>T (p.Glu112Ter)
c.727G>T (p.Glu243Ter)
c.*826G>T (n.*826G>T)
c.745G>T (p.Glu249Ter)
c.904+3G>T (n.904+3G>T)
19g.11426200C=CA2322928825ODAD3c.907G= (p.Glu303=)
c.334G= (p.Glu112=)
c.727G= (p.Glu243=)
c.*826G= (n.*826G=)
c.745G= (p.Glu249=)
c.904+3G= (n.904+3G=)
19g.11426200C>GCA404122996ODAD3c.907G>C (p.Glu303Gln)
c.334G>C (p.Glu112Gln)
c.727G>C (p.Glu243Gln)
c.*826G>C (n.*826G>C)
c.745G>C (p.Glu249Gln)
c.904+3G>C (n.904+3G>C)
19g.11426200C>TCA16616218ODAD3c.907G>A (p.Glu303Lys)
c.334G>A (p.Glu112Lys)
c.727G>A (p.Glu243Lys)
c.*826G>A (n.*826G>A)
c.745G>A (p.Glu249Lys)
c.904+3G>A (n.904+3G>A)
 ClinVar dbSNP gnomAD v4
19g.11426200_11426204delinsCACTTCA2322928824ODAD3c.903_907delinsAAGTG (p.Ile301=)
c.330_334delinsAAGTG (p.Ile110=)
c.723_727delinsAAGTG (p.Ile241=)
c.*822_*826delinsAAGTG (n.*822_*826delinsAAGTG)
c.741_745delinsAAGTG (p.Ile247=)
c.903_904+3delinsAAGTG
19g.11426201A>CCA404122999ODAD3c.906T>G (p.Ser302Arg)
c.333T>G (p.Ser111Arg)
c.726T>G (p.Ser242Arg)
c.*825T>G (n.*825T>G)
c.744T>G (p.Ser248Arg)
c.904+2T>G (n.904+2T>G)
19g.11426201A>GCA505749571ODAD3c.906T>C (p.Ser302=)
c.333T>C (p.Ser111=)
c.726T>C (p.Ser242=)
c.*825T>C (n.*825T>C)
c.744T>C (p.Ser248=)
c.904+2T>C (n.904+2T>C)
 gnomAD v4
19g.11426201A>TCA404123001ODAD3c.906T>A (p.Ser302Arg)
c.333T>A (p.Ser111Arg)
c.726T>A (p.Ser242Arg)
c.*825T>A (n.*825T>A)
c.744T>A (p.Ser248Arg)
c.904+2T>A (n.904+2T>A)
19g.11426201dupCA2582529849ODAD3c.906dup (p.Glu303Ter)
c.333dup (p.Glu112Ter)
c.726dup (p.Glu243Ter)
c.*825dup (n.*825dup)
c.744dup (p.Glu249Ter)
c.904+2dup (n.904+2dup)
 gnomAD v4
19g.11426202_11426205delCA9212220ODAD3c.903_906del (p.Ile301MetfsTer?)
c.330_333del (p.Ile110MetfsTer?)
c.723_726del (p.Ile241MetfsTer?)
c.*822_*825del (n.*822_*825del)
c.741_744del (p.Ile247MetfsTer?)
c.903_904+2del
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.11426202C>ACA404123004ODAD3c.905G>T (p.Ser302Ile)
c.332G>T (p.Ser111Ile)
c.725G>T (p.Ser242Ile)
c.*824G>T (n.*824G>T)
c.743G>T (p.Ser248Ile)
c.904+1G>T (n.904+1G>T)
19g.11426202C>GCA404123006ODAD3c.905G>C (p.Ser302Thr)
c.332G>C (p.Ser111Thr)
c.725G>C (p.Ser242Thr)
c.*824G>C (n.*824G>C)
c.743G>C (p.Ser248Thr)
c.904+1G>C (n.904+1G>C)
19g.11426202C>TCA404123008ODAD3c.905G>A (p.Ser302Asn)
c.332G>A (p.Ser111Asn)
c.725G>A (p.Ser242Asn)
c.*824G>A (n.*824G>A)
c.743G>A (p.Ser248Asn)
c.904+1G>A (n.904+1G>A)
19g.11426203T>ACA404123009ODAD3c.904A>T (p.Ser302Cys)
c.331A>T (p.Ser111Cys)
c.724A>T (p.Ser242Cys)
c.*823A>T (n.*823A>T)
c.742A>T (p.Ser248Cys)
c.904A>T (p.Asn302Tyr)
19g.11426203T>CCA404123010ODAD3c.904A>G (p.Ser302Gly)
c.331A>G (p.Ser111Gly)
c.724A>G (p.Ser242Gly)
c.*823A>G (n.*823A>G)
c.742A>G (p.Ser248Gly)
c.904A>G (p.Asn302Asp)
19g.11426203T>GCA404123011ODAD3c.904A>C (p.Ser302Arg)
c.331A>C (p.Ser111Arg)
c.724A>C (p.Ser242Arg)
c.*823A>C (n.*823A>C)
c.742A>C (p.Ser248Arg)
c.904A>C (p.Asn302His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11426203T=CA2322928826ODAD3c.904A= (p.Ser302=)
c.331A= (p.Ser111=)
c.724A= (p.Ser242=)
c.*823A= (n.*823A=)
c.742A= (p.Ser248=)
c.904A= (p.Asn302=)
19g.11426204T>ACA505749572ODAD3c.903A>T (p.Ile301=)
c.330A>T (p.Ile110=)
c.723A>T (p.Ile241=)
c.*822A>T (n.*822A>T)
c.741A>T (p.Ile247=)
19g.11426204T>CCA404123013ODAD3c.903A>G (p.Ile301Met)
c.330A>G (p.Ile110Met)
c.723A>G (p.Ile241Met)
c.*822A>G (n.*822A>G)
c.741A>G (p.Ile247Met)
19g.11426204T>GCA505749573ODAD3c.903A>C (p.Ile301=)
c.330A>C (p.Ile110=)
c.723A>C (p.Ile241=)
c.*822A>C (n.*822A>C)
c.741A>C (p.Ile247=)
19g.11426205A>CCA404123015ODAD3c.902T>G (p.Ile301Arg)
c.329T>G (p.Ile110Arg)
c.722T>G (p.Ile241Arg)
c.*821T>G (n.*821T>G)
c.740T>G (p.Ile247Arg)
19g.11426205A>GCA404123018ODAD3c.902T>C (p.Ile301Thr)
c.329T>C (p.Ile110Thr)
c.722T>C (p.Ile241Thr)
c.*821T>C (n.*821T>C)
c.740T>C (p.Ile247Thr)
19g.11426205A>TCA404123017ODAD3c.902T>A (p.Ile301Lys)
c.329T>A (p.Ile110Lys)
c.722T>A (p.Ile241Lys)
c.*821T>A (n.*821T>A)
c.740T>A (p.Ile247Lys)
19g.11426206T>ACA404123021ODAD3c.901A>T (p.Ile301Leu)
c.328A>T (p.Ile110Leu)
c.721A>T (p.Ile241Leu)
c.*820A>T (n.*820A>T)
c.739A>T (p.Ile247Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.11426206T>CCA9212221ODAD3c.901A>G (p.Ile301Val)
c.328A>G (p.Ile110Val)
c.721A>G (p.Ile241Val)
c.*820A>G (n.*820A>G)
c.739A>G (p.Ile247Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426206T>GCA404123022ODAD3c.901A>C (p.Ile301Leu)
c.328A>C (p.Ile110Leu)
c.721A>C (p.Ile241Leu)
c.*820A>C (n.*820A>C)
c.739A>C (p.Ile247Leu)
19g.11426206T=CA2322928827ODAD3c.901A= (p.Ile301=)
c.328A= (p.Ile110=)
c.721A= (p.Ile241=)
c.*820A= (n.*820A=)
c.739A= (p.Ile247=)
19g.11426207G>ACA9212222ODAD3c.900C>T (p.Tyr300=)
c.327C>T (p.Tyr109=)
c.720C>T (p.Tyr240=)
c.*819C>T (n.*819C>T)
c.738C>T (p.Tyr246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426207G>CCA404123026ODAD3c.900C>G (p.Tyr300Ter)
c.327C>G (p.Tyr109Ter)
c.720C>G (p.Tyr240Ter)
c.*819C>G (n.*819C>G)
c.738C>G (p.Tyr246Ter)
19g.11426207G=CA2322928828ODAD3c.900C= (p.Tyr300=)
c.327C= (p.Tyr109=)
c.720C= (p.Tyr240=)
c.*819C= (n.*819C=)
c.738C= (p.Tyr246=)
19g.11426207G>TCA404123028ODAD3c.900C>A (p.Tyr300Ter)
c.327C>A (p.Tyr109Ter)
c.720C>A (p.Tyr240Ter)
c.*819C>A (n.*819C>A)
c.738C>A (p.Tyr246Ter)
 gnomAD v4
19g.11426208T>ACA404123030ODAD3c.899A>T (p.Tyr300Phe)
c.326A>T (p.Tyr109Phe)
c.719A>T (p.Tyr240Phe)
c.*818A>T (n.*818A>T)
c.737A>T (p.Tyr246Phe)
19g.11426208T>CCA404123032ODAD3c.899A>G (p.Tyr300Cys)
c.326A>G (p.Tyr109Cys)
c.719A>G (p.Tyr240Cys)
c.*818A>G (n.*818A>G)
c.737A>G (p.Tyr246Cys)
19g.11426208T>GCA404123034ODAD3c.899A>C (p.Tyr300Ser)
c.326A>C (p.Tyr109Ser)
c.719A>C (p.Tyr240Ser)
c.*818A>C (n.*818A>C)
c.737A>C (p.Tyr246Ser)
19g.11426209A=CA2322928829ODAD3c.898T= (p.Tyr300=)
c.325T= (p.Tyr109=)
c.718T= (p.Tyr240=)
c.*817T= (n.*817T=)
c.736T= (p.Tyr246=)
19g.11426209A>CCA404123040ODAD3c.898T>G (p.Tyr300Asp)
c.325T>G (p.Tyr109Asp)
c.718T>G (p.Tyr240Asp)
c.*817T>G (n.*817T>G)
c.736T>G (p.Tyr246Asp)
19g.11426209A>GCA404123038ODAD3c.898T>C (p.Tyr300His)
c.325T>C (p.Tyr109His)
c.718T>C (p.Tyr240His)
c.*817T>C (n.*817T>C)
c.736T>C (p.Tyr246His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11426209A>TCA404123036ODAD3c.898T>A (p.Tyr300Asn)
c.325T>A (p.Tyr109Asn)
c.718T>A (p.Tyr240Asn)
c.*817T>A (n.*817T>A)
c.736T>A (p.Tyr246Asn)
19g.11426210G>ACA505749574ODAD3c.897C>T (p.Arg299=)
c.324C>T (p.Arg108=)
c.717C>T (p.Arg239=)
c.*816C>T (n.*816C>T)
c.735C>T (p.Arg245=)
 gnomAD v4
19g.11426210G>CCA505749575ODAD3c.897C>G (p.Arg299=)
c.324C>G (p.Arg108=)
c.717C>G (p.Arg239=)
c.*816C>G (n.*816C>G)
c.735C>G (p.Arg245=)
19g.11426210G>TCA505749576ODAD3c.897C>A (p.Arg299=)
c.324C>A (p.Arg108=)
c.717C>A (p.Arg239=)
c.*816C>A (n.*816C>A)
c.735C>A (p.Arg245=)
19g.11426211C>ACA404123042ODAD3c.896G>T (p.Arg299Leu)
c.323G>T (p.Arg108Leu)
c.716G>T (p.Arg239Leu)
c.*815G>T (n.*815G>T)
c.734G>T (p.Arg245Leu)
19g.11426211C=CA2322928830ODAD3c.896G= (p.Arg299=)
c.323G= (p.Arg108=)
c.716G= (p.Arg239=)
c.*815G= (n.*815G=)
c.734G= (p.Arg245=)
19g.11426211C>GCA404123044ODAD3c.896G>C (p.Arg299Pro)
c.323G>C (p.Arg108Pro)
c.716G>C (p.Arg239Pro)
c.*815G>C (n.*815G>C)
c.734G>C (p.Arg245Pro)
19g.11426211C>TCA9212223ODAD3c.896G>A (p.Arg299His)
c.323G>A (p.Arg108His)
c.716G>A (p.Arg239His)
c.*815G>A (n.*815G>A)
c.734G>A (p.Arg245His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426212G>ACA9212224ODAD3c.895C>T (p.Arg299Cys)
c.322C>T (p.Arg108Cys)
c.715C>T (p.Arg239Cys)
c.*814C>T (n.*814C>T)
c.733C>T (p.Arg245Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11426212G>CCA404123048ODAD3c.895C>G (p.Arg299Gly)
c.322C>G (p.Arg108Gly)
c.715C>G (p.Arg239Gly)
c.*814C>G (n.*814C>G)
c.733C>G (p.Arg245Gly)
19g.11426212G=CA2322928831ODAD3c.895C= (p.Arg299=)
c.322C= (p.Arg108=)
c.715C= (p.Arg239=)
c.*814C= (n.*814C=)
c.733C= (p.Arg245=)
19g.11426212G>TCA404123049ODAD3c.895C>A (p.Arg299Ser)
c.322C>A (p.Arg108Ser)
c.715C>A (p.Arg239Ser)
c.*814C>A (n.*814C>A)
c.733C>A (p.Arg245Ser)
19g.11426213T>ACA404123054ODAD3c.894A>T (p.Glu298Asp)
c.321A>T (p.Glu107Asp)
c.714A>T (p.Glu238Asp)
c.*813A>T (n.*813A>T)
c.732A>T (p.Glu244Asp)
19g.11426213T>CCA505749577ODAD3c.894A>G (p.Glu298=)
c.321A>G (p.Glu107=)
c.714A>G (p.Glu238=)
c.*813A>G (n.*813A>G)
c.732A>G (p.Glu244=)
19g.11426213T>GCA404123052ODAD3c.894A>C (p.Glu298Asp)
c.321A>C (p.Glu107Asp)
c.714A>C (p.Glu238Asp)
c.*813A>C (n.*813A>C)
c.732A>C (p.Glu244Asp)
19g.11426214T>ACA404123056ODAD3c.893A>T (p.Glu298Val)
c.320A>T (p.Glu107Val)
c.713A>T (p.Glu238Val)
c.*812A>T (n.*812A>T)
c.731A>T (p.Glu244Val)
19g.11426214T>CCA404123058ODAD3c.893A>G (p.Glu298Gly)
c.320A>G (p.Glu107Gly)
c.713A>G (p.Glu238Gly)
c.*812A>G (n.*812A>G)
c.731A>G (p.Glu244Gly)
19g.11426214T>GCA404123060ODAD3c.893A>C (p.Glu298Ala)
c.320A>C (p.Glu107Ala)
c.713A>C (p.Glu238Ala)
c.*812A>C (n.*812A>C)
c.731A>C (p.Glu244Ala)
19g.11426215C>ACA404123062ODAD3c.892G>T (p.Glu298Ter)
c.319G>T (p.Glu107Ter)
c.712G>T (p.Glu238Ter)
c.*811G>T (n.*811G>T)
c.730G>T (p.Glu244Ter)
19g.11426215C>GCA404123064ODAD3c.892G>C (p.Glu298Gln)
c.319G>C (p.Glu107Gln)
c.712G>C (p.Glu238Gln)
c.*811G>C (n.*811G>C)
c.730G>C (p.Glu244Gln)
19g.11426215C>TCA404123066ODAD3c.892G>A (p.Glu298Lys)
c.319G>A (p.Glu107Lys)
c.712G>A (p.Glu238Lys)
c.*811G>A (n.*811G>A)
c.730G>A (p.Glu244Lys)
 COSMIC
19g.11426216C>ACA505749578ODAD3c.891G>T (p.Arg297=)
c.318G>T (p.Arg106=)
c.711G>T (p.Arg237=)
c.*810G>T (n.*810G>T)
c.729G>T (p.Arg243=)
19g.11426216C>GCA505749579ODAD3c.891G>C (p.Arg297=)
c.318G>C (p.Arg106=)
c.711G>C (p.Arg237=)
c.*810G>C (n.*810G>C)
c.729G>C (p.Arg243=)
19g.11426216C>TCA505749580ODAD3c.891G>A (p.Arg297=)
c.318G>A (p.Arg106=)
c.711G>A (p.Arg237=)
c.*810G>A (n.*810G>A)
c.729G>A (p.Arg243=)
 gnomAD v4
19g.11426217C>ACA404123067ODAD3c.890G>T (p.Arg297Leu)
c.317G>T (p.Arg106Leu)
c.710G>T (p.Arg237Leu)
c.*809G>T (n.*809G>T)
c.728G>T (p.Arg243Leu)
19g.11426217C=CA2322928832ODAD3c.890G= (p.Arg297=)
c.317G= (p.Arg106=)
c.710G= (p.Arg237=)
c.*809G= (n.*809G=)
c.728G= (p.Arg243=)
19g.11426217C>GCA404123072ODAD3c.890G>C (p.Arg297Pro)
c.317G>C (p.Arg106Pro)
c.710G>C (p.Arg237Pro)
c.*809G>C (n.*809G>C)
c.728G>C (p.Arg243Pro)
19g.11426217C>TCA404123070ODAD3c.890G>A (p.Arg297Gln)
c.317G>A (p.Arg106Gln)
c.710G>A (p.Arg237Gln)
c.*809G>A (n.*809G>A)
c.728G>A (p.Arg243Gln)
 dbSNP gnomAD v4 COSMIC
19g.11426218G>ACA404123074ODAD3c.889C>T (p.Arg297Trp)
c.316C>T (p.Arg106Trp)
c.709C>T (p.Arg237Trp)
c.*808C>T (n.*808C>T)
c.727C>T (p.Arg243Trp)
 gnomAD v4
19g.11426218G>CCA404123075ODAD3c.889C>G (p.Arg297Gly)
c.316C>G (p.Arg106Gly)
c.709C>G (p.Arg237Gly)
c.*808C>G (n.*808C>G)
c.727C>G (p.Arg243Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.11426218G=CA2322928833ODAD3c.889C= (p.Arg297=)
c.316C= (p.Arg106=)
c.709C= (p.Arg237=)
c.*808C= (n.*808C=)
c.727C= (p.Arg243=)
19g.11426218G>TCA505749581ODAD3c.889C>A (p.Arg297=)
c.316C>A (p.Arg106=)
c.709C>A (p.Arg237=)
c.*808C>A (n.*808C>A)
c.727C>A (p.Arg243=)
19g.11426219C>ACA404123077ODAD3c.888G>T (p.Lys296Asn)
c.315G>T (p.Lys105Asn)
c.708G>T (p.Lys236Asn)
c.*807G>T (n.*807G>T)
c.726G>T (p.Lys242Asn)
19g.11426219C>GCA404123078ODAD3c.888G>C (p.Lys296Asn)
c.315G>C (p.Lys105Asn)
c.708G>C (p.Lys236Asn)
c.*807G>C (n.*807G>C)
c.726G>C (p.Lys242Asn)
19g.11426219C>TCA505749582ODAD3c.888G>A (p.Lys296=)
c.315G>A (p.Lys105=)
c.708G>A (p.Lys236=)
c.*807G>A (n.*807G>A)
c.726G>A (p.Lys242=)
 ClinVar dbSNP gnomAD v4
19g.11426220T>ACA404123080ODAD3c.887A>T (p.Lys296Met)
c.314A>T (p.Lys105Met)
c.707A>T (p.Lys236Met)
c.*806A>T (n.*806A>T)
c.725A>T (p.Lys242Met)
19g.11426220T>CCA404123082ODAD3c.887A>G (p.Lys296Arg)
c.314A>G (p.Lys105Arg)
c.707A>G (p.Lys236Arg)
c.*806A>G (n.*806A>G)
c.725A>G (p.Lys242Arg)
19g.11426220T>GCA404123084ODAD3c.887A>C (p.Lys296Thr)
c.314A>C (p.Lys105Thr)
c.707A>C (p.Lys236Thr)
c.*806A>C (n.*806A>C)
c.725A>C (p.Lys242Thr)
19g.11426221T>ACA404123086ODAD3c.886A>T (p.Lys296Ter)
c.313A>T (p.Lys105Ter)
c.706A>T (p.Lys236Ter)
c.*805A>T (n.*805A>T)
c.724A>T (p.Lys242Ter)
19g.11426221T>CCA404123087ODAD3c.886A>G (p.Lys296Glu)
c.313A>G (p.Lys105Glu)
c.706A>G (p.Lys236Glu)
c.*805A>G (n.*805A>G)
c.724A>G (p.Lys242Glu)
 gnomAD v4
19g.11426221T>GCA404123089ODAD3c.886A>C (p.Lys296Gln)
c.313A>C (p.Lys105Gln)
c.706A>C (p.Lys236Gln)
c.*805A>C (n.*805A>C)
c.724A>C (p.Lys242Gln)
19g.11426222C>ACA404123094ODAD3c.885G>T (p.Lys295Asn)
c.312G>T (p.Lys104Asn)
c.705G>T (p.Lys235Asn)
c.*804G>T (n.*804G>T)
c.723G>T (p.Lys241Asn)
19g.11426222C=CA2322928834ODAD3c.885G= (p.Lys295=)
c.312G= (p.Lys104=)
c.705G= (p.Lys235=)
c.*804G= (n.*804G=)
c.723G= (p.Lys241=)
19g.11426222C>GCA404123092ODAD3c.885G>C (p.Lys295Asn)
c.312G>C (p.Lys104Asn)
c.705G>C (p.Lys235Asn)
c.*804G>C (n.*804G>C)
c.723G>C (p.Lys241Asn)
19g.11426222C>TCA9212225ODAD3c.885G>A (p.Lys295=)
c.312G>A (p.Lys104=)
c.705G>A (p.Lys235=)
c.*804G>A (n.*804G>A)
c.723G>A (p.Lys241=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426223T>ACA404123097ODAD3c.884A>T (p.Lys295Met)
c.311A>T (p.Lys104Met)
c.704A>T (p.Lys235Met)
c.*803A>T (n.*803A>T)
c.722A>T (p.Lys241Met)
19g.11426223T>CCA404123099ODAD3c.884A>G (p.Lys295Arg)
c.311A>G (p.Lys104Arg)
c.704A>G (p.Lys235Arg)
c.*803A>G (n.*803A>G)
c.722A>G (p.Lys241Arg)
 dbSNP
19g.11426223T>GCA404123098ODAD3c.884A>C (p.Lys295Thr)
c.311A>C (p.Lys104Thr)
c.704A>C (p.Lys235Thr)
c.*803A>C (n.*803A>C)
c.722A>C (p.Lys241Thr)
19g.11426223T=CA2322928835ODAD3c.884A= (p.Lys295=)
c.311A= (p.Lys104=)
c.704A= (p.Lys235=)
c.*803A= (n.*803A=)
c.722A= (p.Lys241=)
19g.11426224T>ACA404123102ODAD3c.883A>T (p.Lys295Ter)
c.310A>T (p.Lys104Ter)
c.703A>T (p.Lys235Ter)
c.*802A>T (n.*802A>T)
c.721A>T (p.Lys241Ter)
19g.11426224T>CCA404123104ODAD3c.883A>G (p.Lys295Glu)
c.310A>G (p.Lys104Glu)
c.703A>G (p.Lys235Glu)
c.*802A>G (n.*802A>G)
c.721A>G (p.Lys241Glu)
19g.11426224T>GCA404123105ODAD3c.883A>C (p.Lys295Gln)
c.310A>C (p.Lys104Gln)
c.703A>C (p.Lys235Gln)
c.*802A>C (n.*802A>C)
c.721A>C (p.Lys241Gln)
 dbSNP gnomAD v3 gnomAD v4
19g.11426224T=CA2322928836ODAD3c.883A= (p.Lys295=)
c.310A= (p.Lys104=)
c.703A= (p.Lys235=)
c.*802A= (n.*802A=)
c.721A= (p.Lys241=)
19g.11426225G>ACA505749583ODAD3c.882C>T (p.Arg294=)
c.309C>T (p.Arg103=)
c.702C>T (p.Arg234=)
c.*801C>T (n.*801C>T)
c.720C>T (p.Arg240=)
19g.11426225G>CCA505749584ODAD3c.882C>G (p.Arg294=)
c.309C>G (p.Arg103=)
c.702C>G (p.Arg234=)
c.*801C>G (n.*801C>G)
c.720C>G (p.Arg240=)
19g.11426225G>TCA505749585ODAD3c.882C>A (p.Arg294=)
c.309C>A (p.Arg103=)
c.702C>A (p.Arg234=)
c.*801C>A (n.*801C>A)
c.720C>A (p.Arg240=)
19g.11426226C>ACA404123108ODAD3c.881G>T (p.Arg294Leu)
c.308G>T (p.Arg103Leu)
c.701G>T (p.Arg234Leu)
c.*800G>T (n.*800G>T)
c.719G>T (p.Arg240Leu)
19g.11426226C=CA2322928837ODAD3c.881G= (p.Arg294=)
c.308G= (p.Arg103=)
c.701G= (p.Arg234=)
c.*800G= (n.*800G=)
c.719G= (p.Arg240=)
19g.11426226C>GCA404123109ODAD3c.881G>C (p.Arg294Pro)
c.308G>C (p.Arg103Pro)
c.701G>C (p.Arg234Pro)
c.*800G>C (n.*800G>C)
c.719G>C (p.Arg240Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.11426226C>TCA305334529ODAD3c.881G>A (p.Arg294His)
c.308G>A (p.Arg103His)
c.701G>A (p.Arg234His)
c.*800G>A (n.*800G>A)
c.719G>A (p.Arg240His)
 dbSNP gnomAD v3 gnomAD v4
19g.11426227G>ACA404123113ODAD3c.880C>T (p.Arg294Cys)
c.307C>T (p.Arg103Cys)
c.700C>T (p.Arg234Cys)
c.*799C>T (n.*799C>T)
c.718C>T (p.Arg240Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11426227G>CCA404123114ODAD3c.880C>G (p.Arg294Gly)
c.307C>G (p.Arg103Gly)
c.700C>G (p.Arg234Gly)
c.*799C>G (n.*799C>G)
c.718C>G (p.Arg240Gly)
19g.11426227G=CA2322928838ODAD3c.880C= (p.Arg294=)
c.307C= (p.Arg103=)
c.700C= (p.Arg234=)
c.*799C= (n.*799C=)
c.718C= (p.Arg240=)
19g.11426227G>TCA404123115ODAD3c.880C>A (p.Arg294Ser)
c.307C>A (p.Arg103Ser)
c.700C>A (p.Arg234Ser)
c.*799C>A (n.*799C>A)
c.718C>A (p.Arg240Ser)
19g.11426228C>ACA404123117ODAD3c.879G>T (p.Glu293Asp)
c.306G>T (p.Glu102Asp)
c.699G>T (p.Glu233Asp)
c.*798G>T (n.*798G>T)
c.717G>T (p.Glu239Asp)
19g.11426228C=CA2322928839ODAD3c.879G= (p.Glu293=)
c.306G= (p.Glu102=)
c.699G= (p.Glu233=)
c.*798G= (n.*798G=)
c.717G= (p.Glu239=)
19g.11426228C>GCA404123119ODAD3c.879G>C (p.Glu293Asp)
c.306G>C (p.Glu102Asp)
c.699G>C (p.Glu233Asp)
c.*798G>C (n.*798G>C)
c.717G>C (p.Glu239Asp)
 dbSNP gnomAD v4
19g.11426228C>TCA505749586ODAD3c.879G>A (p.Glu293=)
c.306G>A (p.Glu102=)
c.699G>A (p.Glu233=)
c.*798G>A (n.*798G>A)
c.717G>A (p.Glu239=)
 gnomAD v4
19g.11426229_11426232delCA2582529911ODAD3c.876_879del (p.Glu293AlafsTer8)
c.303_306del (p.Glu102AlafsTer8)
c.696_699del (p.Glu233AlafsTer8)
c.*795_*798del (n.*795_*798del)
c.714_717del (p.Glu239AlafsTer8)
 gnomAD v4
19g.11426229T>ACA404123124ODAD3c.878A>T (p.Glu293Val)
c.305A>T (p.Glu102Val)
c.698A>T (p.Glu233Val)
c.*797A>T (n.*797A>T)
c.716A>T (p.Glu239Val)
19g.11426229T>CCA404123121ODAD3c.878A>G (p.Glu293Gly)
c.305A>G (p.Glu102Gly)
c.698A>G (p.Glu233Gly)
c.*797A>G (n.*797A>G)
c.716A>G (p.Glu239Gly)
19g.11426229T>GCA404123123ODAD3c.878A>C (p.Glu293Ala)
c.305A>C (p.Glu102Ala)
c.698A>C (p.Glu233Ala)
c.*797A>C (n.*797A>C)
c.716A>C (p.Glu239Ala)
19g.11426230C>ACA404123125ODAD3c.877G>T (p.Glu293Ter)
c.304G>T (p.Glu102Ter)
c.697G>T (p.Glu233Ter)
c.*796G>T (n.*796G>T)
c.715G>T (p.Glu239Ter)
19g.11426230C=CA2322928840ODAD3c.877G= (p.Glu293=)
c.304G= (p.Glu102=)
c.697G= (p.Glu233=)
c.*796G= (n.*796G=)
c.715G= (p.Glu239=)
19g.11426230C>GCA404123127ODAD3c.877G>C (p.Glu293Gln)
c.304G>C (p.Glu102Gln)
c.697G>C (p.Glu233Gln)
c.*796G>C (n.*796G>C)
c.715G>C (p.Glu239Gln)
 dbSNP
19g.11426230C>TCA404123128ODAD3c.877G>A (p.Glu293Lys)
c.304G>A (p.Glu102Lys)
c.697G>A (p.Glu233Lys)
c.*796G>A (n.*796G>A)
c.715G>A (p.Glu239Lys)
 gnomAD v4
19g.11426231T>ACA505749587ODAD3c.876A>T (p.Arg292=)
c.303A>T (p.Arg101=)
c.696A>T (p.Arg232=)
c.*795A>T (n.*795A>T)
c.714A>T (p.Arg238=)
19g.11426231T>CCA505749588ODAD3c.876A>G (p.Arg292=)
c.303A>G (p.Arg101=)
c.696A>G (p.Arg232=)
c.*795A>G (n.*795A>G)
c.714A>G (p.Arg238=)
 gnomAD v4
19g.11426231T>GCA505749589ODAD3c.876A>C (p.Arg292=)
c.303A>C (p.Arg101=)
c.696A>C (p.Arg232=)
c.*795A>C (n.*795A>C)
c.714A>C (p.Arg238=)
19g.11426232C>ACA404123130ODAD3c.875G>T (p.Arg292Leu)
c.302G>T (p.Arg101Leu)
c.695G>T (p.Arg232Leu)
c.*794G>T (n.*794G>T)
c.713G>T (p.Arg238Leu)
19g.11426232C=CA2322928841ODAD3c.875G= (p.Arg292=)
c.302G= (p.Arg101=)
c.695G= (p.Arg232=)
c.*794G= (n.*794G=)
c.713G= (p.Arg238=)
19g.11426232C>GCA9212227ODAD3c.875G>C (p.Arg292Pro)
c.302G>C (p.Arg101Pro)
c.695G>C (p.Arg232Pro)
c.*794G>C (n.*794G>C)
c.713G>C (p.Arg238Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426232C>TCA9212226ODAD3c.875G>A (p.Arg292Gln)
c.302G>A (p.Arg101Gln)
c.695G>A (p.Arg232Gln)
c.*794G>A (n.*794G>A)
c.713G>A (p.Arg238Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426233G>ACA404123135ODAD3c.874C>T (p.Arg292Ter)
c.301C>T (p.Arg101Ter)
c.694C>T (p.Arg232Ter)
c.*793C>T (n.*793C>T)
c.712C>T (p.Arg238Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11426233G>CCA404123137ODAD3c.874C>G (p.Arg292Gly)
c.301C>G (p.Arg101Gly)
c.694C>G (p.Arg232Gly)
c.*793C>G (n.*793C>G)
c.712C>G (p.Arg238Gly)
 gnomAD v4
19g.11426233G=CA2322928842ODAD3c.874C= (p.Arg292=)
c.301C= (p.Arg101=)
c.694C= (p.Arg232=)
c.*793C= (n.*793C=)
c.712C= (p.Arg238=)
19g.11426233G>TCA505749590ODAD3c.874C>A (p.Arg292=)
c.301C>A (p.Arg101=)
c.694C>A (p.Arg232=)
c.*793C>A (n.*793C>A)
c.712C>A (p.Arg238=)
19g.11426234A>CCA505749591ODAD3c.873T>G (p.Val291=)
c.300T>G (p.Val100=)
c.693T>G (p.Val231=)
c.*792T>G (n.*792T>G)
c.711T>G (p.Val237=)
19g.11426234A>GCA505749592ODAD3c.873T>C (p.Val291=)
c.300T>C (p.Val100=)
c.693T>C (p.Val231=)
c.*792T>C (n.*792T>C)
c.711T>C (p.Val237=)
19g.11426234A>TCA505749593ODAD3c.873T>A (p.Val291=)
c.300T>A (p.Val100=)
c.693T>A (p.Val231=)
c.*792T>A (n.*792T>A)
c.711T>A (p.Val237=)
19g.11426235A=CA2322928843ODAD3c.872T= (p.Val291=)
c.299T= (p.Val100=)
c.692T= (p.Val231=)
c.*791T= (n.*791T=)
c.710T= (p.Val237=)
19g.11426235A>CCA404123138ODAD3c.872T>G (p.Val291Gly)
c.299T>G (p.Val100Gly)
c.692T>G (p.Val231Gly)
c.*791T>G (n.*791T>G)
c.710T>G (p.Val237Gly)
19g.11426235A>GCA404123140ODAD3c.872T>C (p.Val291Ala)
c.299T>C (p.Val100Ala)
c.692T>C (p.Val231Ala)
c.*791T>C (n.*791T>C)
c.710T>C (p.Val237Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11426235A>TCA404123141ODAD3c.872T>A (p.Val291Asp)
c.299T>A (p.Val100Asp)
c.692T>A (p.Val231Asp)
c.*791T>A (n.*791T>A)
c.710T>A (p.Val237Asp)
19g.11426236C>ACA404123144ODAD3c.871G>T (p.Val291Phe)
c.298G>T (p.Val100Phe)
c.691G>T (p.Val231Phe)
c.*790G>T (n.*790G>T)
c.709G>T (p.Val237Phe)
19g.11426236C=CA2322928844ODAD3c.871G= (p.Val291=)
c.298G= (p.Val100=)
c.691G= (p.Val231=)
c.*790G= (n.*790G=)
c.709G= (p.Val237=)
19g.11426236C>GCA404123146ODAD3c.871G>C (p.Val291Leu)
c.298G>C (p.Val100Leu)
c.691G>C (p.Val231Leu)
c.*790G>C (n.*790G>C)
c.709G>C (p.Val237Leu)
19g.11426236C>TCA9212228ODAD3c.871G>A (p.Val291Ile)
c.298G>A (p.Val100Ile)
c.691G>A (p.Val231Ile)
c.*790G>A (n.*790G>A)
c.709G>A (p.Val237Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426237C>ACA404123148ODAD3c.870G>T (p.Leu290Phe)
c.297G>T (p.Leu99Phe)
c.690G>T (p.Leu230Phe)
c.*789G>T (n.*789G>T)
c.708G>T (p.Leu236Phe)
19g.11426237C=CA2322928845ODAD3c.870G= (p.Leu290=)
c.297G= (p.Leu99=)
c.690G= (p.Leu230=)
c.*789G= (n.*789G=)
c.708G= (p.Leu236=)
19g.11426237C>GCA404123150ODAD3c.870G>C (p.Leu290Phe)
c.297G>C (p.Leu99Phe)
c.690G>C (p.Leu230Phe)
c.*789G>C (n.*789G>C)
c.708G>C (p.Leu236Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.11426237C>TCA505749594ODAD3c.870G>A (p.Leu290=)
c.297G>A (p.Leu99=)
c.690G>A (p.Leu230=)
c.*789G>A (n.*789G>A)
c.708G>A (p.Leu236=)
19g.11426238A>CCA404123152ODAD3c.869T>G (p.Leu290Trp)
c.296T>G (p.Leu99Trp)
c.689T>G (p.Leu230Trp)
c.*788T>G (n.*788T>G)
c.707T>G (p.Leu236Trp)
19g.11426238A>GCA404123154ODAD3c.869T>C (p.Leu290Ser)
c.296T>C (p.Leu99Ser)
c.689T>C (p.Leu230Ser)
c.*788T>C (n.*788T>C)
c.707T>C (p.Leu236Ser)
19g.11426238A>TCA404123156ODAD3c.869T>A (p.Leu290Ter)
c.296T>A (p.Leu99Ter)
c.689T>A (p.Leu230Ter)
c.*788T>A (n.*788T>A)
c.707T>A (p.Leu236Ter)
19g.11426239A>CCA404123158ODAD3c.868T>G (p.Leu290Val)
c.295T>G (p.Leu99Val)
c.688T>G (p.Leu230Val)
c.*787T>G (n.*787T>G)
c.706T>G (p.Leu236Val)
19g.11426239A>GCA505749595ODAD3c.868T>C (p.Leu290=)
c.295T>C (p.Leu99=)
c.688T>C (p.Leu230=)
c.*787T>C (n.*787T>C)
c.706T>C (p.Leu236=)
19g.11426239A>TCA404123160ODAD3c.868T>A (p.Leu290Met)
c.295T>A (p.Leu99Met)
c.688T>A (p.Leu230Met)
c.*787T>A (n.*787T>A)
c.706T>A (p.Leu236Met)
19g.11426240G>ACA505749596ODAD3c.867C>T (p.Thr289=)
c.294C>T (p.Thr98=)
c.687C>T (p.Thr229=)
c.*786C>T (n.*786C>T)
c.705C>T (p.Thr235=)
19g.11426240G>CCA505749597ODAD3c.867C>G (p.Thr289=)
c.294C>G (p.Thr98=)
c.687C>G (p.Thr229=)
c.*786C>G (n.*786C>G)
c.705C>G (p.Thr235=)
19g.11426240G>TCA505749598ODAD3c.867C>A (p.Thr289=)
c.294C>A (p.Thr98=)
c.687C>A (p.Thr229=)
c.*786C>A (n.*786C>A)
c.705C>A (p.Thr235=)
19g.11426241delCA2582529912ODAD3c.867del (p.Leu290TrpfsTer12)
c.294del (p.Leu99TrpfsTer12)
c.687del (p.Leu230TrpfsTer12)
c.*786del (n.*786del)
c.705del (p.Leu236TrpfsTer12)
 gnomAD v4
19g.11426241G>ACA9212229ODAD3c.866C>T (p.Thr289Ile)
c.293C>T (p.Thr98Ile)
c.686C>T (p.Thr229Ile)
c.*785C>T (n.*785C>T)
c.704C>T (p.Thr235Ile)
 dbSNP ExAC gnomAD v4
19g.11426241G>CCA404123162ODAD3c.866C>G (p.Thr289Ser)
c.293C>G (p.Thr98Ser)
c.686C>G (p.Thr229Ser)
c.*785C>G (n.*785C>G)
c.704C>G (p.Thr235Ser)
19g.11426241G=CA2322928846ODAD3c.866C= (p.Thr289=)
c.293C= (p.Thr98=)
c.686C= (p.Thr229=)
c.*785C= (n.*785C=)
c.704C= (p.Thr235=)
19g.11426241G>TCA404123164ODAD3c.866C>A (p.Thr289Asn)
c.293C>A (p.Thr98Asn)
c.686C>A (p.Thr229Asn)
c.*785C>A (n.*785C>A)
c.704C>A (p.Thr235Asn)
19g.11426242T>ACA404123167ODAD3c.865A>T (p.Thr289Ser)
c.292A>T (p.Thr98Ser)
c.685A>T (p.Thr229Ser)
c.*784A>T (n.*784A>T)
c.703A>T (p.Thr235Ser)
19g.11426242T>CCA404123168ODAD3c.865A>G (p.Thr289Ala)
c.292A>G (p.Thr98Ala)
c.685A>G (p.Thr229Ala)
c.*784A>G (n.*784A>G)
c.703A>G (p.Thr235Ala)
19g.11426242T>GCA404123170ODAD3c.865A>C (p.Thr289Pro)
c.292A>C (p.Thr98Pro)
c.685A>C (p.Thr229Pro)
c.*784A>C (n.*784A>C)
c.703A>C (p.Thr235Pro)
19g.11426242_11426245delinsTCTCCA2322928847ODAD3c.862_865delinsGAGA (p.Glu288=)
c.289_292delinsGAGA (p.Glu97=)
c.682_685delinsGAGA (p.Glu228=)
c.*781_*784delinsGAGA (n.*781_*784delinsGAGA)
c.700_703delinsGAGA (p.Glu234=)
19g.11426243C>ACA404123178ODAD3c.864G>T (p.Glu288Asp)
c.291G>T (p.Glu97Asp)
c.684G>T (p.Glu228Asp)
c.*783G>T (n.*783G>T)
c.702G>T (p.Glu234Asp)
19g.11426243C=CA2322928848ODAD3c.864G= (p.Glu288=)
c.291G= (p.Glu97=)
c.684G= (p.Glu228=)
c.*783G= (n.*783G=)
c.702G= (p.Glu234=)
19g.11426243C>GCA404123176ODAD3c.864G>C (p.Glu288Asp)
c.291G>C (p.Glu97Asp)
c.684G>C (p.Glu228Asp)
c.*783G>C (n.*783G>C)
c.702G>C (p.Glu234Asp)
19g.11426243C>TCA505749599ODAD3c.864G>A (p.Glu288=)
c.291G>A (p.Glu97=)
c.684G>A (p.Glu228=)
c.*783G>A (n.*783G>A)
c.702G>A (p.Glu234=)
 dbSNP gnomAD v2 gnomAD v4
19g.11426246_11426248delCA9212230ODAD3c.862_864del (p.Glu288del)
c.289_291del (p.Glu97del)
c.682_684del (p.Glu228del)
c.*781_*783del (n.*781_*783del)
c.700_702del (p.Glu234del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426244T>ACA404123185ODAD3c.863A>T (p.Glu288Val)
c.290A>T (p.Glu97Val)
c.683A>T (p.Glu228Val)
c.*782A>T (n.*782A>T)
c.701A>T (p.Glu234Val)
19g.11426244T>CCA404123187ODAD3c.863A>G (p.Glu288Gly)
c.290A>G (p.Glu97Gly)
c.683A>G (p.Glu228Gly)
c.*782A>G (n.*782A>G)
c.701A>G (p.Glu234Gly)
19g.11426244T>GCA404123189ODAD3c.863A>C (p.Glu288Ala)
c.290A>C (p.Glu97Ala)
c.683A>C (p.Glu228Ala)
c.*782A>C (n.*782A>C)
c.701A>C (p.Glu234Ala)
19g.11426245C>ACA404123190ODAD3c.862G>T (p.Glu288Ter)
c.289G>T (p.Glu97Ter)
c.682G>T (p.Glu228Ter)
c.*781G>T (n.*781G>T)
c.700G>T (p.Glu234Ter)
 dbSNP
19g.11426245C=CA2322928849ODAD3c.862G= (p.Glu288=)
c.289G= (p.Glu97=)
c.682G= (p.Glu228=)
c.*781G= (n.*781G=)
c.700G= (p.Glu234=)
19g.11426245C>GCA404123193ODAD3c.862G>C (p.Glu288Gln)
c.289G>C (p.Glu97Gln)
c.682G>C (p.Glu228Gln)
c.*781G>C (n.*781G>C)
c.700G>C (p.Glu234Gln)
19g.11426245C>TCA404123194ODAD3c.862G>A (p.Glu288Lys)
c.289G>A (p.Glu97Lys)
c.682G>A (p.Glu228Lys)
c.*781G>A (n.*781G>A)
c.700G>A (p.Glu234Lys)
19g.11426246C>ACA404123197ODAD3c.861G>T (p.Glu287Asp)
c.288G>T (p.Glu96Asp)
c.681G>T (p.Glu227Asp)
c.*780G>T (n.*780G>T)
c.699G>T (p.Glu233Asp)
19g.11426246C=CA2322928850ODAD3c.861G= (p.Glu287=)
c.288G= (p.Glu96=)
c.681G= (p.Glu227=)
c.*780G= (n.*780G=)
c.699G= (p.Glu233=)
19g.11426246C>GCA404123199ODAD3c.861G>C (p.Glu287Asp)
c.288G>C (p.Glu96Asp)
c.681G>C (p.Glu227Asp)
c.*780G>C (n.*780G>C)
c.699G>C (p.Glu233Asp)
19g.11426246C>TCA505749600ODAD3c.861G>A (p.Glu287=)
c.288G>A (p.Glu96=)
c.681G>A (p.Glu227=)
c.*780G>A (n.*780G>A)
c.699G>A (p.Glu233=)
 dbSNP
19g.11426247T>ACA404123200ODAD3c.860A>T (p.Glu287Val)
c.287A>T (p.Glu96Val)
c.680A>T (p.Glu227Val)
c.*779A>T (n.*779A>T)
c.698A>T (p.Glu233Val)
19g.11426247T>CCA404123202ODAD3c.860A>G (p.Glu287Gly)
c.287A>G (p.Glu96Gly)
c.680A>G (p.Glu227Gly)
c.*779A>G (n.*779A>G)
c.698A>G (p.Glu233Gly)
19g.11426247T>GCA404123204ODAD3c.860A>C (p.Glu287Ala)
c.287A>C (p.Glu96Ala)
c.680A>C (p.Glu227Ala)
c.*779A>C (n.*779A>C)
c.698A>C (p.Glu233Ala)
19g.11426248C>ACA404123211ODAD3c.859G>T (p.Glu287Ter)
c.286G>T (p.Glu96Ter)
c.679G>T (p.Glu227Ter)
c.*778G>T (n.*778G>T)
c.697G>T (p.Glu233Ter)
19g.11426248C>GCA404123209ODAD3c.859G>C (p.Glu287Gln)
c.286G>C (p.Glu96Gln)
c.679G>C (p.Glu227Gln)
c.*778G>C (n.*778G>C)
c.697G>C (p.Glu233Gln)
 COSMIC
19g.11426248C>TCA404123206ODAD3c.859G>A (p.Glu287Lys)
c.286G>A (p.Glu96Lys)
c.679G>A (p.Glu227Lys)
c.*778G>A (n.*778G>A)
c.697G>A (p.Glu233Lys)
 gnomAD v4
19g.11426249T>ACA505749603ODAD3c.858A>T (p.Leu286=)
c.285A>T (p.Leu95=)
c.678A>T (p.Leu226=)
c.*777A>T (n.*777A>T)
c.696A>T (p.Leu232=)
19g.11426249T>CCA505749602ODAD3c.858A>G (p.Leu286=)
c.285A>G (p.Leu95=)
c.678A>G (p.Leu226=)
c.*777A>G (n.*777A>G)
c.696A>G (p.Leu232=)
 dbSNP
19g.11426249T>GCA505749601ODAD3c.858A>C (p.Leu286=)
c.285A>C (p.Leu95=)
c.678A>C (p.Leu226=)
c.*777A>C (n.*777A>C)
c.696A>C (p.Leu232=)
19g.11426250A=CA2322928851ODAD3c.857T= (p.Leu286=)
c.284T= (p.Leu95=)
c.677T= (p.Leu226=)
c.*776T= (n.*776T=)
c.695T= (p.Leu232=)
19g.11426250A>CCA404123213ODAD3c.857T>G (p.Leu286Arg)
c.284T>G (p.Leu95Arg)
c.677T>G (p.Leu226Arg)
c.*776T>G (n.*776T>G)
c.695T>G (p.Leu232Arg)
19g.11426250A>GCA9212231ODAD3c.857T>C (p.Leu286Pro)
c.284T>C (p.Leu95Pro)
c.677T>C (p.Leu226Pro)
c.*776T>C (n.*776T>C)
c.695T>C (p.Leu232Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426250A>TCA404123215ODAD3c.857T>A (p.Leu286Gln)
c.284T>A (p.Leu95Gln)
c.677T>A (p.Leu226Gln)
c.*776T>A (n.*776T>A)
c.695T>A (p.Leu232Gln)
19g.11426251G>ACA505749604ODAD3c.856C>T (p.Leu286=)
c.283C>T (p.Leu95=)
c.676C>T (p.Leu226=)
c.*775C>T (n.*775C>T)
c.694C>T (p.Leu232=)
19g.11426251G>CCA404123218ODAD3c.856C>G (p.Leu286Val)
c.283C>G (p.Leu95Val)
c.676C>G (p.Leu226Val)
c.*775C>G (n.*775C>G)
c.694C>G (p.Leu232Val)
19g.11426251G>TCA404123220ODAD3c.856C>A (p.Leu286Ile)
c.283C>A (p.Leu95Ile)
c.676C>A (p.Leu226Ile)
c.*775C>A (n.*775C>A)
c.694C>A (p.Leu232Ile)
 gnomAD v4
19g.11426252G>ACA305334548ODAD3c.855C>T (p.Tyr285=)
c.282C>T (p.Tyr94=)
c.675C>T (p.Tyr225=)
c.*774C>T (n.*774C>T)
c.693C>T (p.Tyr231=)
 dbSNP COSMIC
19g.11426252G>CCA404123221ODAD3c.855C>G (p.Tyr285Ter)
c.282C>G (p.Tyr94Ter)
c.675C>G (p.Tyr225Ter)
c.*774C>G (n.*774C>G)
c.693C>G (p.Tyr231Ter)
19g.11426252G=CA2322928852ODAD3c.855C= (p.Tyr285=)
c.282C= (p.Tyr94=)
c.675C= (p.Tyr225=)
c.*774C= (n.*774C=)
c.693C= (p.Tyr231=)
19g.11426252G>TCA404123223ODAD3c.855C>A (p.Tyr285Ter)
c.282C>A (p.Tyr94Ter)
c.675C>A (p.Tyr225Ter)
c.*774C>A (n.*774C>A)
c.693C>A (p.Tyr231Ter)
19g.11426253T>ACA404123225ODAD3c.854A>T (p.Tyr285Phe)
c.281A>T (p.Tyr94Phe)
c.674A>T (p.Tyr225Phe)
c.*773A>T (n.*773A>T)
c.692A>T (p.Tyr231Phe)
19g.11426253T>CCA404123227ODAD3c.854A>G (p.Tyr285Cys)
c.281A>G (p.Tyr94Cys)
c.674A>G (p.Tyr225Cys)
c.*773A>G (n.*773A>G)
c.692A>G (p.Tyr231Cys)
19g.11426253T>GCA404123229ODAD3c.854A>C (p.Tyr285Ser)
c.281A>C (p.Tyr94Ser)
c.674A>C (p.Tyr225Ser)
c.*773A>C (n.*773A>C)
c.692A>C (p.Tyr231Ser)
19g.11426254A=CA2322928853ODAD3c.853T= (p.Tyr285=)
c.280T= (p.Tyr94=)
c.673T= (p.Tyr225=)
c.*772T= (n.*772T=)
c.691T= (p.Tyr231=)
19g.11426254A>CCA404123232ODAD3c.853T>G (p.Tyr285Asp)
c.280T>G (p.Tyr94Asp)
c.673T>G (p.Tyr225Asp)
c.*772T>G (n.*772T>G)
c.691T>G (p.Tyr231Asp)
19g.11426254A>GCA9212232ODAD3c.853T>C (p.Tyr285His)
c.280T>C (p.Tyr94His)
c.673T>C (p.Tyr225His)
c.*772T>C (n.*772T>C)
c.691T>C (p.Tyr231His)
 dbSNP ExAC gnomAD v2
19g.11426254A>TCA404123234ODAD3c.853T>A (p.Tyr285Asn)
c.280T>A (p.Tyr94Asn)
c.673T>A (p.Tyr225Asn)
c.*772T>A (n.*772T>A)
c.691T>A (p.Tyr231Asn)
19g.11426255C>ACA404123237ODAD3c.852G>T (p.Gln284His)
c.279G>T (p.Gln93His)
c.672G>T (p.Gln224His)
c.*771G>T (n.*771G>T)
c.690G>T (p.Gln230His)
19g.11426255C=CA2322928854ODAD3c.852G= (p.Gln284=)
c.279G= (p.Gln93=)
c.672G= (p.Gln224=)
c.*771G= (n.*771G=)
c.690G= (p.Gln230=)
19g.11426255C>GCA404123239ODAD3c.852G>C (p.Gln284His)
c.279G>C (p.Gln93His)
c.672G>C (p.Gln224His)
c.*771G>C (n.*771G>C)
c.690G>C (p.Gln230His)
 dbSNP gnomAD v2 gnomAD v4
19g.11426255C>TCA9212233ODAD3c.852G>A (p.Gln284=)
c.279G>A (p.Gln93=)
c.672G>A (p.Gln224=)
c.*771G>A (n.*771G>A)
c.690G>A (p.Gln230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426256T>ACA404123247ODAD3c.851A>T (p.Gln284Leu)
c.278A>T (p.Gln93Leu)
c.671A>T (p.Gln224Leu)
c.*770A>T (n.*770A>T)
c.689A>T (p.Gln230Leu)
19g.11426256T>CCA404123243ODAD3c.851A>G (p.Gln284Arg)
c.278A>G (p.Gln93Arg)
c.671A>G (p.Gln224Arg)
c.*770A>G (n.*770A>G)
c.689A>G (p.Gln230Arg)
19g.11426256T>GCA404123245ODAD3c.851A>C (p.Gln284Pro)
c.278A>C (p.Gln93Pro)
c.671A>C (p.Gln224Pro)
c.*770A>C (n.*770A>C)
c.689A>C (p.Gln230Pro)
19g.11426257G>ACA404123249ODAD3c.850C>T (p.Gln284Ter)
c.277C>T (p.Gln93Ter)
c.670C>T (p.Gln224Ter)
c.*769C>T (n.*769C>T)
c.688C>T (p.Gln230Ter)
 gnomAD v4
19g.11426257G>CCA404123251ODAD3c.850C>G (p.Gln284Glu)
c.277C>G (p.Gln93Glu)
c.670C>G (p.Gln224Glu)
c.*769C>G (n.*769C>G)
c.688C>G (p.Gln230Glu)
19g.11426257G>TCA404123253ODAD3c.850C>A (p.Gln284Lys)
c.277C>A (p.Gln93Lys)
c.670C>A (p.Gln224Lys)
c.*769C>A (n.*769C>A)
c.688C>A (p.Gln230Lys)
19g.11426258C>ACA9212234ODAD3c.849G>T (p.Leu283=)
c.276G>T (p.Leu92=)
c.669G>T (p.Leu223=)
c.*768G>T (n.*768G>T)
c.687G>T (p.Leu229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426258C=CA2322928855ODAD3c.849G= (p.Leu283=)
c.276G= (p.Leu92=)
c.669G= (p.Leu223=)
c.*768G= (n.*768G=)
c.687G= (p.Leu229=)
19g.11426258C>GCA505749605ODAD3c.849G>C (p.Leu283=)
c.276G>C (p.Leu92=)
c.669G>C (p.Leu223=)
c.*768G>C (n.*768G>C)
c.687G>C (p.Leu229=)
19g.11426258C>TCA505749606ODAD3c.849G>A (p.Leu283=)
c.276G>A (p.Leu92=)
c.669G>A (p.Leu223=)
c.*768G>A (n.*768G>A)
c.687G>A (p.Leu229=)
19g.11426259A=CA2322928856ODAD3c.848T= (p.Leu283=)
c.275T= (p.Leu92=)
c.668T= (p.Leu223=)
c.*767T= (n.*767T=)
c.686T= (p.Leu229=)
19g.11426259A>CCA9212235ODAD3c.848T>G (p.Leu283Arg)
c.275T>G (p.Leu92Arg)
c.668T>G (p.Leu223Arg)
c.*767T>G (n.*767T>G)
c.686T>G (p.Leu229Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426259A>GCA404123258ODAD3c.848T>C (p.Leu283Pro)
c.275T>C (p.Leu92Pro)
c.668T>C (p.Leu223Pro)
c.*767T>C (n.*767T>C)
c.686T>C (p.Leu229Pro)
19g.11426259A>TCA404123259ODAD3c.848T>A (p.Leu283Gln)
c.275T>A (p.Leu92Gln)
c.668T>A (p.Leu223Gln)
c.*767T>A (n.*767T>A)
c.686T>A (p.Leu229Gln)
19g.11426260G>ACA505749607ODAD3c.847C>T (p.Leu283=)
c.274C>T (p.Leu92=)
c.667C>T (p.Leu223=)
c.*766C>T (n.*766C>T)
c.685C>T (p.Leu229=)
19g.11426260G>CCA404123262ODAD3c.847C>G (p.Leu283Val)
c.274C>G (p.Leu92Val)
c.667C>G (p.Leu223Val)
c.*766C>G (n.*766C>G)
c.685C>G (p.Leu229Val)
19g.11426260G>TCA404123264ODAD3c.847C>A (p.Leu283Met)
c.274C>A (p.Leu92Met)
c.667C>A (p.Leu223Met)
c.*766C>A (n.*766C>A)
c.685C>A (p.Leu229Met)
19g.11426261C>ACA404123266ODAD3c.846G>T (p.Gln282His)
c.273G>T (p.Gln91His)
c.666G>T (p.Gln222His)
c.*765G>T (n.*765G>T)
c.684G>T (p.Gln228His)
19g.11426261C>GCA404123268ODAD3c.846G>C (p.Gln282His)
c.273G>C (p.Gln91His)
c.666G>C (p.Gln222His)
c.*765G>C (n.*765G>C)
c.684G>C (p.Gln228His)
19g.11426261C>TCA505749608ODAD3c.846G>A (p.Gln282=)
c.273G>A (p.Gln91=)
c.666G>A (p.Gln222=)
c.*765G>A (n.*765G>A)
c.684G>A (p.Gln228=)
19g.11426262T>ACA404123271ODAD3c.845A>T (p.Gln282Leu)
c.272A>T (p.Gln91Leu)
c.665A>T (p.Gln222Leu)
c.*764A>T (n.*764A>T)
c.683A>T (p.Gln228Leu)
19g.11426262T>CCA404123273ODAD3c.845A>G (p.Gln282Arg)
c.272A>G (p.Gln91Arg)
c.665A>G (p.Gln222Arg)
c.*764A>G (n.*764A>G)
c.683A>G (p.Gln228Arg)
19g.11426262T>GCA404123269ODAD3c.845A>C (p.Gln282Pro)
c.272A>C (p.Gln91Pro)
c.665A>C (p.Gln222Pro)
c.*764A>C (n.*764A>C)
c.683A>C (p.Gln228Pro)
 gnomAD v4
19g.11426263G>ACA404123275ODAD3c.844C>T (p.Gln282Ter)
c.271C>T (p.Gln91Ter)
c.664C>T (p.Gln222Ter)
c.*763C>T (n.*763C>T)
c.682C>T (p.Gln228Ter)
 gnomAD v4
19g.11426263G>CCA404123277ODAD3c.844C>G (p.Gln282Glu)
c.271C>G (p.Gln91Glu)
c.664C>G (p.Gln222Glu)
c.*763C>G (n.*763C>G)
c.682C>G (p.Gln228Glu)
19g.11426263G>TCA404123279ODAD3c.844C>A (p.Gln282Lys)
c.271C>A (p.Gln91Lys)
c.664C>A (p.Gln222Lys)
c.*763C>A (n.*763C>A)
c.682C>A (p.Gln228Lys)
19g.11426264G>ACA505749609ODAD3c.843C>T (p.Asn281=)
c.270C>T (p.Asn90=)
c.663C>T (p.Asn221=)
c.*762C>T (n.*762C>T)
c.681C>T (p.Asn227=)
19g.11426264G>CCA404123281ODAD3c.843C>G (p.Asn281Lys)
c.270C>G (p.Asn90Lys)
c.663C>G (p.Asn221Lys)
c.*762C>G (n.*762C>G)
c.681C>G (p.Asn227Lys)
19g.11426264G>TCA404123283ODAD3c.843C>A (p.Asn281Lys)
c.270C>A (p.Asn90Lys)
c.663C>A (p.Asn221Lys)
c.*762C>A (n.*762C>A)
c.681C>A (p.Asn227Lys)
19g.11426265T>ACA404123289ODAD3c.842A>T (p.Asn281Ile)
c.269A>T (p.Asn90Ile)
c.662A>T (p.Asn221Ile)
c.*761A>T (n.*761A>T)
c.680A>T (p.Asn227Ile)
19g.11426265T>CCA404123287ODAD3c.842A>G (p.Asn281Ser)
c.269A>G (p.Asn90Ser)
c.662A>G (p.Asn221Ser)
c.*761A>G (n.*761A>G)
c.680A>G (p.Asn227Ser)
19g.11426265T>GCA404123286ODAD3c.842A>C (p.Asn281Thr)
c.269A>C (p.Asn90Thr)
c.662A>C (p.Asn221Thr)
c.*761A>C (n.*761A>C)
c.680A>C (p.Asn227Thr)
19g.11426266T>ACA404123292ODAD3c.841A>T (p.Asn281Tyr)
c.268A>T (p.Asn90Tyr)
c.661A>T (p.Asn221Tyr)
c.*760A>T (n.*760A>T)
c.679A>T (p.Asn227Tyr)
19g.11426266T>CCA404123293ODAD3c.841A>G (p.Asn281Asp)
c.268A>G (p.Asn90Asp)
c.661A>G (p.Asn221Asp)
c.*760A>G (n.*760A>G)
c.679A>G (p.Asn227Asp)
19g.11426266T>GCA404123295ODAD3c.841A>C (p.Asn281His)
c.268A>C (p.Asn90His)
c.661A>C (p.Asn221His)
c.*760A>C (n.*760A>C)
c.679A>C (p.Asn227His)
19g.11426267C>ACA404123297ODAD3c.841-1G>T (n.841-1G>T)
c.268-1G>T (n.268-1G>T)
c.661-1G>T (n.661-1G>T)
c.*760-1G>T (n.*760-1G>T)
c.679-1G>T (n.679-1G>T)
19g.11426267C=CA2322928857ODAD3c.841-1G= (n.841-1G=)
c.268-1G= (n.268-1G=)
c.661-1G= (n.661-1G=)
c.*760-1G= (n.*760-1G=)
c.679-1G= (n.679-1G=)
19g.11426267C>GCA404123300ODAD3c.841-1G>C (n.841-1G>C)
c.268-1G>C (n.268-1G>C)
c.661-1G>C (n.661-1G>C)
c.*760-1G>C (n.*760-1G>C)
c.679-1G>C (n.679-1G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.11426267C>TCA404123301ODAD3c.841-1G>A (n.841-1G>A)
c.268-1G>A (n.268-1G>A)
c.661-1G>A (n.661-1G>A)
c.*760-1G>A (n.*760-1G>A)
c.679-1G>A (n.679-1G>A)
 COSMIC
19g.11426268T>ACA404123303ODAD3c.841-2A>T (n.841-2A>T)
c.268-2A>T (n.268-2A>T)
c.661-2A>T (n.661-2A>T)
c.*760-2A>T (n.*760-2A>T)
c.679-2A>T (n.679-2A>T)
19g.11426268T>CCA404123307ODAD3c.841-2A>G (n.841-2A>G)
c.268-2A>G (n.268-2A>G)
c.661-2A>G (n.661-2A>G)
c.*760-2A>G (n.*760-2A>G)
c.679-2A>G (n.679-2A>G)
19g.11426268T>GCA404123305ODAD3c.841-2A>C (n.841-2A>C)
c.268-2A>C (n.268-2A>C)
c.661-2A>C (n.661-2A>C)
c.*760-2A>C (n.*760-2A>C)
c.679-2A>C (n.679-2A>C)
19g.11426270G>ACA305334570ODAD3c.841-4C>T (n.841-4C>T)
c.268-4C>T (n.268-4C>T)
c.661-4C>T (n.661-4C>T)
c.*760-4C>T (n.*760-4C>T)
c.679-4C>T (n.679-4C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.11426270G=CA2322928858ODAD3c.841-4C= (n.841-4C=)
c.268-4C= (n.268-4C=)
c.661-4C= (n.661-4C=)
c.*760-4C= (n.*760-4C=)
c.679-4C= (n.679-4C=)
19g.11426272G>ACA2813608683ODAD3c.841-6C>T (n.841-6C>T)
c.268-6C>T (n.268-6C>T)
c.661-6C>T (n.661-6C>T)
c.*760-6C>T (n.*760-6C>T)
c.679-6C>T (n.679-6C>T)
19g.11426273G>ACA2582529913ODAD3c.841-7C>T (n.841-7C>T)
c.268-7C>T (n.268-7C>T)
c.661-7C>T (n.661-7C>T)
c.*760-7C>T (n.*760-7C>T)
c.679-7C>T (n.679-7C>T)
 gnomAD v4
19g.11426273G>CCA2582529914ODAD3c.841-7C>G (n.841-7C>G)
c.268-7C>G (n.268-7C>G)
c.661-7C>G (n.661-7C>G)
c.*760-7C>G (n.*760-7C>G)
c.679-7C>G (n.679-7C>G)
 gnomAD v4
19g.11426273G>TCA2582529915ODAD3c.841-7C>A (n.841-7C>A)
c.268-7C>A (n.268-7C>A)
c.661-7C>A (n.661-7C>A)
c.*760-7C>A (n.*760-7C>A)
c.679-7C>A (n.679-7C>A)
 gnomAD v4
19g.11426274G>ACA993564955ODAD3c.841-8C>T (n.841-8C>T)
c.268-8C>T (n.268-8C>T)
c.661-8C>T (n.661-8C>T)
c.*760-8C>T (n.*760-8C>T)
c.679-8C>T (n.679-8C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.11426274G=CA2322928859ODAD3c.841-8C= (n.841-8C=)
c.268-8C= (n.268-8C=)
c.661-8C= (n.661-8C=)
c.*760-8C= (n.*760-8C=)
c.679-8C= (n.679-8C=)
19g.11426275C>ACA2322928861ODAD3c.841-9G>T (n.841-9G>T)
c.268-9G>T (n.268-9G>T)
c.661-9G>T (n.661-9G>T)
c.*760-9G>T (n.*760-9G>T)
c.679-9G>T (n.679-9G>T)
 dbSNP
19g.11426275C=CA2322928860ODAD3c.841-9G= (n.841-9G=)
c.268-9G= (n.268-9G=)
c.661-9G= (n.661-9G=)
c.*760-9G= (n.*760-9G=)
c.679-9G= (n.679-9G=)
19g.11426275C>TCA9212236ODAD3c.841-9G>A (n.841-9G>A)
c.268-9G>A (n.268-9G>A)
c.661-9G>A (n.661-9G>A)
c.*760-9G>A (n.*760-9G>A)
c.679-9G>A (n.679-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426276G>ACA9212238ODAD3c.841-10C>T (n.841-10C>T)
c.268-10C>T (n.268-10C>T)
c.661-10C>T (n.661-10C>T)
c.*760-10C>T (n.*760-10C>T)
c.679-10C>T (n.679-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426276G=CA2322928862ODAD3c.841-10C= (n.841-10C=)
c.268-10C= (n.268-10C=)
c.661-10C= (n.661-10C=)
c.*760-10C= (n.*760-10C=)
c.679-10C= (n.679-10C=)
19g.11426276G>TCA9212237ODAD3c.841-10C>A (n.841-10C>A)
c.268-10C>A (n.268-10C>A)
c.661-10C>A (n.661-10C>A)
c.*760-10C>A (n.*760-10C>A)
c.679-10C>A (n.679-10C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426277G>ACA658794808ODAD3c.841-11C>T (n.841-11C>T)
c.268-11C>T (n.268-11C>T)
c.661-11C>T (n.661-11C>T)
c.*760-11C>T (n.*760-11C>T)
c.679-11C>T (n.679-11C>T)
 dbSNP gnomAD v4
19g.11426277G>CCA9212240ODAD3c.841-11C>G (n.841-11C>G)
c.268-11C>G (n.268-11C>G)
c.661-11C>G (n.661-11C>G)
c.*760-11C>G (n.*760-11C>G)
c.679-11C>G (n.679-11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426277G=CA2322928863ODAD3c.841-11C= (n.841-11C=)
c.268-11C= (n.268-11C=)
c.661-11C= (n.661-11C=)
c.*760-11C= (n.*760-11C=)
c.679-11C= (n.679-11C=)
19g.11426277G>TCA9212239ODAD3c.841-11C>A (n.841-11C>A)
c.268-11C>A (n.268-11C>A)
c.661-11C>A (n.661-11C>A)
c.*760-11C>A (n.*760-11C>A)
c.679-11C>A (n.679-11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11426278G>ACA657256772ODAD3c.841-12C>T (n.841-12C>T)
c.268-12C>T (n.268-12C>T)
c.661-12C>T (n.661-12C>T)
c.*760-12C>T (n.*760-12C>T)
c.679-12C>T (n.679-12C>T)
 dbSNP gnomAD v4 COSMIC
19g.11426278G>CCA9212241ODAD3c.841-12C>G (n.841-12C>G)
c.268-12C>G (n.268-12C>G)
c.661-12C>G (n.661-12C>G)
c.*760-12C>G (n.*760-12C>G)
c.679-12C>G (n.679-12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11426278G=CA2322928864ODAD3c.841-12C= (n.841-12C=)
c.268-12C= (n.268-12C=)
c.661-12C= (n.661-12C=)
c.*760-12C= (n.*760-12C=)
c.679-12C= (n.679-12C=)
19g.11426279C=CA2322928865ODAD3c.841-13G= (n.841-13G=)
c.268-13G= (n.268-13G=)
c.661-13G= (n.661-13G=)
c.*760-13G= (n.*760-13G=)
c.679-13G= (n.679-13G=)
19g.11426279C>TCA305334585ODAD3c.841-13G>A (n.841-13G>A)
c.268-13G>A (n.268-13G>A)
c.661-13G>A (n.661-13G>A)
c.*760-13G>A (n.*760-13G>A)
c.679-13G>A (n.679-13G>A)
 dbSNP

Number of alleles fetched