Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11422670delCA2582529215ODAD3c.1277+34del (n.1277+34del)
c.704+34del (n.704+34del)
c.1097+34del (n.1097+34del)
c.*1196+34del (n.*1196+34del)
c.1115+34del (n.1115+34del)
gnomAD v4
19g.11422668C=CA2322924962ODAD3c.1277+33G= (n.1277+33G=)
c.704+33G= (n.704+33G=)
c.1097+33G= (n.1097+33G=)
c.*1196+33G= (n.*1196+33G=)
c.1115+33G= (n.1115+33G=)
19g.11422668C>TCA632116948ODAD3c.1277+33G>A (n.1277+33G>A)
c.704+33G>A (n.704+33G>A)
c.1097+33G>A (n.1097+33G>A)
c.*1196+33G>A (n.*1196+33G>A)
c.1115+33G>A (n.1115+33G>A)
dbSNP gnomAD v2 gnomAD v4
19g.11422669C>TCA2582529217ODAD3c.1277+32G>A (n.1277+32G>A)
c.704+32G>A (n.704+32G>A)
c.1097+32G>A (n.1097+32G>A)
c.*1196+32G>A (n.*1196+32G>A)
c.1115+32G>A (n.1115+32G>A)
gnomAD v4
19g.11422670C>ACA9212070ODAD3c.1277+31G>T (n.1277+31G>T)
c.704+31G>T (n.704+31G>T)
c.1097+31G>T (n.1097+31G>T)
c.*1196+31G>T (n.*1196+31G>T)
c.1115+31G>T (n.1115+31G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422670C=CA2322924963ODAD3c.1277+31G= (n.1277+31G=)
c.704+31G= (n.704+31G=)
c.1097+31G= (n.1097+31G=)
c.*1196+31G= (n.*1196+31G=)
c.1115+31G= (n.1115+31G=)
19g.11422670C>GCA305327096ODAD3c.1277+31G>C (n.1277+31G>C)
c.704+31G>C (n.704+31G>C)
c.1097+31G>C (n.1097+31G>C)
c.*1196+31G>C (n.*1196+31G>C)
c.1115+31G>C (n.1115+31G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422671G>ACA632116949ODAD3c.1277+30C>T (n.1277+30C>T)
c.704+30C>T (n.704+30C>T)
c.1097+30C>T (n.1097+30C>T)
c.*1196+30C>T (n.*1196+30C>T)
c.1115+30C>T (n.1115+30C>T)
dbSNP gnomAD v2 gnomAD v4
19g.11422671G>CCA2576629755ODAD3c.1277+30C>G (n.1277+30C>G)
c.704+30C>G (n.704+30C>G)
c.1097+30C>G (n.1097+30C>G)
c.*1196+30C>G (n.*1196+30C>G)
c.1115+30C>G (n.1115+30C>G)
19g.11422671G=CA2322924964ODAD3c.1277+30C= (n.1277+30C=)
c.704+30C= (n.704+30C=)
c.1097+30C= (n.1097+30C=)
c.*1196+30C= (n.*1196+30C=)
c.1115+30C= (n.1115+30C=)
19g.11422671G>TCA2582529218ODAD3c.1277+30C>A (n.1277+30C>A)
c.704+30C>A (n.704+30C>A)
c.1097+30C>A (n.1097+30C>A)
c.*1196+30C>A (n.*1196+30C>A)
c.1115+30C>A (n.1115+30C>A)
gnomAD v4
19g.11422672C=CA2322924965ODAD3c.1277+29G= (n.1277+29G=)
c.704+29G= (n.704+29G=)
c.1097+29G= (n.1097+29G=)
c.*1196+29G= (n.*1196+29G=)
c.1115+29G= (n.1115+29G=)
19g.11422672C>TCA783271437ODAD3c.1277+29G>A (n.1277+29G>A)
c.704+29G>A (n.704+29G>A)
c.1097+29G>A (n.1097+29G>A)
c.*1196+29G>A (n.*1196+29G>A)
c.1115+29G>A (n.1115+29G>A)
dbSNP gnomAD v3 gnomAD v4
19g.11422673C=CA2322924966ODAD3c.1277+28G= (n.1277+28G=)
c.704+28G= (n.704+28G=)
c.1097+28G= (n.1097+28G=)
c.*1196+28G= (n.*1196+28G=)
c.1115+28G= (n.1115+28G=)
19g.11422673C>TCA9212071ODAD3c.1277+28G>A (n.1277+28G>A)
c.704+28G>A (n.704+28G>A)
c.1097+28G>A (n.1097+28G>A)
c.*1196+28G>A (n.*1196+28G>A)
c.1115+28G>A (n.1115+28G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422674G>ACA632116950ODAD3c.1277+27C>T (n.1277+27C>T)
c.704+27C>T (n.704+27C>T)
c.1097+27C>T (n.1097+27C>T)
c.*1196+27C>T (n.*1196+27C>T)
c.1115+27C>T (n.1115+27C>T)
dbSNP gnomAD v2 gnomAD v4
19g.11422674G=CA2322924967ODAD3c.1277+27C= (n.1277+27C=)
c.704+27C= (n.704+27C=)
c.1097+27C= (n.1097+27C=)
c.*1196+27C= (n.*1196+27C=)
c.1115+27C= (n.1115+27C=)
19g.11422674G>TCA2582529219ODAD3c.1277+27C>A (n.1277+27C>A)
c.704+27C>A (n.704+27C>A)
c.1097+27C>A (n.1097+27C>A)
c.*1196+27C>A (n.*1196+27C>A)
c.1115+27C>A (n.1115+27C>A)
gnomAD v4
19g.11422677C=CA2322924968ODAD3c.1277+24G= (n.1277+24G=)
c.704+24G= (n.704+24G=)
c.1097+24G= (n.1097+24G=)
c.*1196+24G= (n.*1196+24G=)
c.1115+24G= (n.1115+24G=)
19g.11422677C>TCA632116951ODAD3c.1277+24G>A (n.1277+24G>A)
c.704+24G>A (n.704+24G>A)
c.1097+24G>A (n.1097+24G>A)
c.*1196+24G>A (n.*1196+24G>A)
c.1115+24G>A (n.1115+24G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422678T>ACA2813608399ODAD3c.1277+23A>T (n.1277+23A>T)
c.704+23A>T (n.704+23A>T)
c.1097+23A>T (n.1097+23A>T)
c.*1196+23A>T (n.*1196+23A>T)
c.1115+23A>T (n.1115+23A>T)
19g.11422678T>CCA2576629756ODAD3c.1277+23A>G (n.1277+23A>G)
c.704+23A>G (n.704+23A>G)
c.1097+23A>G (n.1097+23A>G)
c.*1196+23A>G (n.*1196+23A>G)
c.1115+23A>G (n.1115+23A>G)
gnomAD v4
19g.11422678_11422686delinsTCCCCAGAGCA2322924969ODAD3c.1277+15_1277+23delinsCTCTGGGGA (n.1277+15_1277+23delinsCTCTGGGGA)
c.704+15_704+23delinsCTCTGGGGA (n.704+15_704+23delinsCTCTGGGGA)
c.1097+15_1097+23delinsCTCTGGGGA (n.1097+15_1097+23delinsCTCTGGGGA)
c.*1196+15_*1196+23delinsCTCTGGGGA (n.*1196+15_*1196+23delinsCTCTGGGGA)
c.1115+15_1115+23delinsCTCTGGGGA (n.1115+15_1115+23delinsCTCTGGGGA)
19g.11422679C>TCA2582529221ODAD3c.1277+22G>A (n.1277+22G>A)
c.704+22G>A (n.704+22G>A)
c.1097+22G>A (n.1097+22G>A)
c.*1196+22G>A (n.*1196+22G>A)
c.1115+22G>A (n.1115+22G>A)
gnomAD v4
19g.11422682delCA2582529220ODAD3c.1277+22del (n.1277+22del)
c.704+22del (n.704+22del)
c.1097+22del (n.1097+22del)
c.*1196+22del (n.*1196+22del)
c.1115+22del (n.1115+22del)
gnomAD v4
19g.11422683_11422690delCA783271438ODAD3c.1277+15_1277+22del (n.1277+15_1277+22del)
c.704+15_704+22del (n.704+15_704+22del)
c.1097+15_1097+22del (n.1097+15_1097+22del)
c.*1196+15_*1196+22del (n.*1196+15_*1196+22del)
c.1115+15_1115+22del (n.1115+15_1115+22del)
dbSNP gnomAD v3 gnomAD v4
19g.11422680C>TCA2582529222ODAD3c.1277+21G>A (n.1277+21G>A)
c.704+21G>A (n.704+21G>A)
c.1097+21G>A (n.1097+21G>A)
c.*1196+21G>A (n.*1196+21G>A)
c.1115+21G>A (n.1115+21G>A)
gnomAD v4
19g.11422682C>TCA2582529223ODAD3c.1277+19G>A (n.1277+19G>A)
c.704+19G>A (n.704+19G>A)
c.1097+19G>A (n.1097+19G>A)
c.*1196+19G>A (n.*1196+19G>A)
c.1115+19G>A (n.1115+19G>A)
gnomAD v4
19g.11422683A=CA2322924970ODAD3c.1277+18T= (n.1277+18T=)
c.704+18T= (n.704+18T=)
c.1097+18T= (n.1097+18T=)
c.*1196+18T= (n.*1196+18T=)
c.1115+18T= (n.1115+18T=)
19g.11422683A>CCA2576629757ODAD3c.1277+18T>G (n.1277+18T>G)
c.704+18T>G (n.704+18T>G)
c.1097+18T>G (n.1097+18T>G)
c.*1196+18T>G (n.*1196+18T>G)
c.1115+18T>G (n.1115+18T>G)
gnomAD v4
19g.11422683A>GCA9212072ODAD3c.1277+18T>C (n.1277+18T>C)
c.704+18T>C (n.704+18T>C)
c.1097+18T>C (n.1097+18T>C)
c.*1196+18T>C (n.*1196+18T>C)
c.1115+18T>C (n.1115+18T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422684G>ACA2582529224ODAD3c.1277+17C>T (n.1277+17C>T)
c.704+17C>T (n.704+17C>T)
c.1097+17C>T (n.1097+17C>T)
c.*1196+17C>T (n.*1196+17C>T)
c.1115+17C>T (n.1115+17C>T)
gnomAD v4
19g.11422685A>TCA2576629758ODAD3c.1277+16T>A (n.1277+16T>A)
c.704+16T>A (n.704+16T>A)
c.1097+16T>A (n.1097+16T>A)
c.*1196+16T>A (n.*1196+16T>A)
c.1115+16T>A (n.1115+16T>A)
19g.11422686G>ACA2582529225ODAD3c.1277+15C>T (n.1277+15C>T)
c.704+15C>T (n.704+15C>T)
c.1097+15C>T (n.1097+15C>T)
c.*1196+15C>T (n.*1196+15C>T)
c.1115+15C>T (n.1115+15C>T)
gnomAD v4
19g.11422687C>ACA2322924972ODAD3c.1277+14G>T (n.1277+14G>T)
c.704+14G>T (n.704+14G>T)
c.1097+14G>T (n.1097+14G>T)
c.*1196+14G>T (n.*1196+14G>T)
c.1115+14G>T (n.1115+14G>T)
dbSNP gnomAD v4
19g.11422687C=CA2322924971ODAD3c.1277+14G= (n.1277+14G=)
c.704+14G= (n.704+14G=)
c.1097+14G= (n.1097+14G=)
c.*1196+14G= (n.*1196+14G=)
c.1115+14G= (n.1115+14G=)
19g.11422687C>GCA9212073ODAD3c.1277+14G>C (n.1277+14G>C)
c.704+14G>C (n.704+14G>C)
c.1097+14G>C (n.1097+14G>C)
c.*1196+14G>C (n.*1196+14G>C)
c.1115+14G>C (n.1115+14G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422687C>TCA632116952ODAD3c.1277+14G>A (n.1277+14G>A)
c.704+14G>A (n.704+14G>A)
c.1097+14G>A (n.1097+14G>A)
c.*1196+14G>A (n.*1196+14G>A)
c.1115+14G>A (n.1115+14G>A)
dbSNP gnomAD v2 gnomAD v4
19g.11422688C>GCA2582529226ODAD3c.1277+13G>C (n.1277+13G>C)
c.704+13G>C (n.704+13G>C)
c.1097+13G>C (n.1097+13G>C)
c.*1196+13G>C (n.*1196+13G>C)
c.1115+13G>C (n.1115+13G>C)
gnomAD v4
19g.11422689C=CA2322924973ODAD3c.1277+12G= (n.1277+12G=)
c.704+12G= (n.704+12G=)
c.1097+12G= (n.1097+12G=)
c.*1196+12G= (n.*1196+12G=)
c.1115+12G= (n.1115+12G=)
19g.11422689C>GCA9212074ODAD3c.1277+12G>C (n.1277+12G>C)
c.704+12G>C (n.704+12G>C)
c.1097+12G>C (n.1097+12G>C)
c.*1196+12G>C (n.*1196+12G>C)
c.1115+12G>C (n.1115+12G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422689C>TCA2582529227ODAD3c.1277+12G>A (n.1277+12G>A)
c.704+12G>A (n.704+12G>A)
c.1097+12G>A (n.1097+12G>A)
c.*1196+12G>A (n.*1196+12G>A)
c.1115+12G>A (n.1115+12G>A)
gnomAD v4
19g.11422690C>ACA2582529228ODAD3c.1277+11G>T (n.1277+11G>T)
c.704+11G>T (n.704+11G>T)
c.1097+11G>T (n.1097+11G>T)
c.*1196+11G>T (n.*1196+11G>T)
c.1115+11G>T (n.1115+11G>T)
gnomAD v4
19g.11422690C=CA2322924975ODAD3c.1277+11G= (n.1277+11G=)
c.704+11G= (n.704+11G=)
c.1097+11G= (n.1097+11G=)
c.*1196+11G= (n.*1196+11G=)
c.1115+11G= (n.1115+11G=)
19g.11422690C>TCA2322924976ODAD3c.1277+11G>A (n.1277+11G>A)
c.704+11G>A (n.704+11G>A)
c.1097+11G>A (n.1097+11G>A)
c.*1196+11G>A (n.*1196+11G>A)
c.1115+11G>A (n.1115+11G>A)
dbSNP
19g.11422690_11422691delinsCGCA2322924974ODAD3c.1277+10_1277+11delinsCG (n.1277+10_1277+11delinsCG)
c.704+10_704+11delinsCG (n.704+10_704+11delinsCG)
c.1097+10_1097+11delinsCG (n.1097+10_1097+11delinsCG)
c.*1196+10_*1196+11delinsCG (n.*1196+10_*1196+11delinsCG)
c.1115+10_1115+11delinsCG (n.1115+10_1115+11delinsCG)
19g.11422691G>ACA2582529229ODAD3c.1277+10C>T (n.1277+10C>T)
c.704+10C>T (n.704+10C>T)
c.1097+10C>T (n.1097+10C>T)
c.*1196+10C>T (n.*1196+10C>T)
c.1115+10C>T (n.1115+10C>T)
gnomAD v4
19g.11422692delCA783271439ODAD3c.1277+10del (n.1277+10del)
c.704+10del (n.704+10del)
c.1097+10del (n.1097+10del)
c.*1196+10del (n.*1196+10del)
c.1115+10del (n.1115+10del)
dbSNP gnomAD v3 gnomAD v4
19g.11422692G>ACA632116953ODAD3c.1277+9C>T (n.1277+9C>T)
c.704+9C>T (n.704+9C>T)
c.1097+9C>T (n.1097+9C>T)
c.*1196+9C>T (n.*1196+9C>T)
c.1115+9C>T (n.1115+9C>T)
dbSNP gnomAD v2
19g.11422692G>CCA2582529230ODAD3c.1277+9C>G (n.1277+9C>G)
c.704+9C>G (n.704+9C>G)
c.1097+9C>G (n.1097+9C>G)
c.*1196+9C>G (n.*1196+9C>G)
c.1115+9C>G (n.1115+9C>G)
gnomAD v4
19g.11422692G=CA2322924977ODAD3c.1277+9C= (n.1277+9C=)
c.704+9C= (n.704+9C=)
c.1097+9C= (n.1097+9C=)
c.*1196+9C= (n.*1196+9C=)
c.1115+9C= (n.1115+9C=)
19g.11422692G>TCA2582529231ODAD3c.1277+9C>A (n.1277+9C>A)
c.704+9C>A (n.704+9C>A)
c.1097+9C>A (n.1097+9C>A)
c.*1196+9C>A (n.*1196+9C>A)
c.1115+9C>A (n.1115+9C>A)
gnomAD v4
19g.11422693T>ACA783271440ODAD3c.1277+8A>T (n.1277+8A>T)
c.704+8A>T (n.704+8A>T)
c.1097+8A>T (n.1097+8A>T)
c.*1196+8A>T (n.*1196+8A>T)
c.1115+8A>T (n.1115+8A>T)
dbSNP
19g.11422693T=CA2322924978ODAD3c.1277+8A= (n.1277+8A=)
c.704+8A= (n.704+8A=)
c.1097+8A= (n.1097+8A=)
c.*1196+8A= (n.*1196+8A=)
c.1115+8A= (n.1115+8A=)
19g.11422694G>ACA632116954ODAD3c.1277+7C>T (n.1277+7C>T)
c.704+7C>T (n.704+7C>T)
c.1097+7C>T (n.1097+7C>T)
c.*1196+7C>T (n.*1196+7C>T)
c.1115+7C>T (n.1115+7C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422694G>CCA2582529232ODAD3c.1277+7C>G (n.1277+7C>G)
c.704+7C>G (n.704+7C>G)
c.1097+7C>G (n.1097+7C>G)
c.*1196+7C>G (n.*1196+7C>G)
c.1115+7C>G (n.1115+7C>G)
gnomAD v4
19g.11422694G=CA2322924979ODAD3c.1277+7C= (n.1277+7C=)
c.704+7C= (n.704+7C=)
c.1097+7C= (n.1097+7C=)
c.*1196+7C= (n.*1196+7C=)
c.1115+7C= (n.1115+7C=)
19g.11422694_11422698dupCA2582529233ODAD3c.1277+3_1277+7dup (n.1277+3_1277+7dup)
c.704+3_704+7dup (n.704+3_704+7dup)
c.1097+3_1097+7dup (n.1097+3_1097+7dup)
c.*1196+3_*1196+7dup (n.*1196+3_*1196+7dup)
c.1115+3_1115+7dup (n.1115+3_1115+7dup)
gnomAD v4
19g.11422695C>ACA2573156046ODAD3c.1277+6G>T (n.1277+6G>T)
c.704+6G>T (n.704+6G>T)
c.1097+6G>T (n.1097+6G>T)
c.*1196+6G>T (n.*1196+6G>T)
c.1115+6G>T (n.1115+6G>T)
ClinVar dbSNP
19g.11422696delCA2582529234ODAD3c.1277+6del (n.1277+6del)
c.704+6del (n.704+6del)
c.1097+6del (n.1097+6del)
c.*1196+6del (n.*1196+6del)
c.1115+6del (n.1115+6del)
gnomAD v4
19g.11422696C=CA2322924980ODAD3c.1277+5G= (n.1277+5G=)
c.704+5G= (n.704+5G=)
c.1097+5G= (n.1097+5G=)
c.*1196+5G= (n.*1196+5G=)
c.1115+5G= (n.1115+5G=)
19g.11422696C>TCA305327153ODAD3c.1277+5G>A (n.1277+5G>A)
c.704+5G>A (n.704+5G>A)
c.1097+5G>A (n.1097+5G>A)
c.*1196+5G>A (n.*1196+5G>A)
c.1115+5G>A (n.1115+5G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422699A>CCA404120003ODAD3c.1277+2T>G (n.1277+2T>G)
c.704+2T>G (n.704+2T>G)
c.1097+2T>G (n.1097+2T>G)
c.*1196+2T>G (n.*1196+2T>G)
c.1115+2T>G (n.1115+2T>G)
19g.11422699A>GCA404120002ODAD3c.1277+2T>C (n.1277+2T>C)
c.704+2T>C (n.704+2T>C)
c.1097+2T>C (n.1097+2T>C)
c.*1196+2T>C (n.*1196+2T>C)
c.1115+2T>C (n.1115+2T>C)
19g.11422699A>TCA404120000ODAD3c.1277+2T>A (n.1277+2T>A)
c.704+2T>A (n.704+2T>A)
c.1097+2T>A (n.1097+2T>A)
c.*1196+2T>A (n.*1196+2T>A)
c.1115+2T>A (n.1115+2T>A)
19g.11422700C>ACA404120005ODAD3c.1277+1G>T (n.1277+1G>T)
c.704+1G>T (n.704+1G>T)
c.1097+1G>T (n.1097+1G>T)
c.*1196+1G>T (n.*1196+1G>T)
c.1115+1G>T (n.1115+1G>T)
19g.11422700C=CA2322924981ODAD3c.1277+1G= (n.1277+1G=)
c.704+1G= (n.704+1G=)
c.1097+1G= (n.1097+1G=)
c.*1196+1G= (n.*1196+1G=)
c.1115+1G= (n.1115+1G=)
19g.11422700C>GCA404120006ODAD3c.1277+1G>C (n.1277+1G>C)
c.704+1G>C (n.704+1G>C)
c.1097+1G>C (n.1097+1G>C)
c.*1196+1G>C (n.*1196+1G>C)
c.1115+1G>C (n.1115+1G>C)
19g.11422700C>TCA404120008ODAD3c.1277+1G>A (n.1277+1G>A)
c.704+1G>A (n.704+1G>A)
c.1097+1G>A (n.1097+1G>A)
c.*1196+1G>A (n.*1196+1G>A)
c.1115+1G>A (n.1115+1G>A)
dbSNP gnomAD v2 gnomAD v4
19g.11422701C>ACA404120009ODAD3c.1277G>T (p.Ser426Ile)
c.704G>T (p.Ser235Ile)
c.1097G>T (p.Ser366Ile)
c.*1196G>T (n.*1196G>T)
c.1115G>T (p.Ser372Ile)
19g.11422701C=CA2322924982ODAD3c.1277G= (p.Ser426=)
c.704G= (p.Ser235=)
c.1097G= (p.Ser366=)
c.*1196G= (n.*1196G=)
c.1115G= (p.Ser372=)
19g.11422701C>GCA404120010ODAD3c.1277G>C (p.Ser426Thr)
c.704G>C (p.Ser235Thr)
c.1097G>C (p.Ser366Thr)
c.*1196G>C (n.*1196G>C)
c.1115G>C (p.Ser372Thr)
19g.11422701C>TCA404120013ODAD3c.1277G>A (p.Ser426Asn)
c.704G>A (p.Ser235Asn)
c.1097G>A (p.Ser366Asn)
c.*1196G>A (n.*1196G>A)
c.1115G>A (p.Ser372Asn)
dbSNP gnomAD v3 gnomAD v4
19g.11422702T>ACA404120014ODAD3c.1276A>T (p.Ser426Cys)
c.703A>T (p.Ser235Cys)
c.1096A>T (p.Ser366Cys)
c.*1195A>T (n.*1195A>T)
c.1114A>T (p.Ser372Cys)
19g.11422702T>CCA404120018ODAD3c.1276A>G (p.Ser426Gly)
c.703A>G (p.Ser235Gly)
c.1096A>G (p.Ser366Gly)
c.*1195A>G (n.*1195A>G)
c.1114A>G (p.Ser372Gly)
19g.11422702T>GCA404120016ODAD3c.1276A>C (p.Ser426Arg)
c.703A>C (p.Ser235Arg)
c.1096A>C (p.Ser366Arg)
c.*1195A>C (n.*1195A>C)
c.1114A>C (p.Ser372Arg)
19g.11422703C>ACA505749448ODAD3c.1275G>T (p.Val425=)
c.702G>T (p.Val234=)
c.1095G>T (p.Val365=)
c.*1194G>T (n.*1194G>T)
c.1113G>T (p.Val371=)
19g.11422703C=CA2322924983ODAD3c.1275G= (p.Val425=)
c.702G= (p.Val234=)
c.1095G= (p.Val365=)
c.*1194G= (n.*1194G=)
c.1113G= (p.Val371=)
19g.11422703C>GCA505749446ODAD3c.1275G>C (p.Val425=)
c.702G>C (p.Val234=)
c.1095G>C (p.Val365=)
c.*1194G>C (n.*1194G>C)
c.1113G>C (p.Val371=)
19g.11422703C>TCA505749447ODAD3c.1275G>A (p.Val425=)
c.702G>A (p.Val234=)
c.1095G>A (p.Val365=)
c.*1194G>A (n.*1194G>A)
c.1113G>A (p.Val371=)
ClinVar dbSNP gnomAD v4
19g.11422704A>CCA404120020ODAD3c.1274T>G (p.Val425Gly)
c.701T>G (p.Val234Gly)
c.1094T>G (p.Val365Gly)
c.*1193T>G (n.*1193T>G)
c.1112T>G (p.Val371Gly)
19g.11422704A>GCA404120021ODAD3c.1274T>C (p.Val425Ala)
c.701T>C (p.Val234Ala)
c.1094T>C (p.Val365Ala)
c.*1193T>C (n.*1193T>C)
c.1112T>C (p.Val371Ala)
19g.11422704A>TCA404120023ODAD3c.1274T>A (p.Val425Glu)
c.701T>A (p.Val234Glu)
c.1094T>A (p.Val365Glu)
c.*1193T>A (n.*1193T>A)
c.1112T>A (p.Val371Glu)
19g.11422705C>ACA404120025ODAD3c.1273G>T (p.Val425Leu)
c.700G>T (p.Val234Leu)
c.1093G>T (p.Val365Leu)
c.*1192G>T (n.*1192G>T)
c.1111G>T (p.Val371Leu)
COSMIC
19g.11422705C>GCA404120027ODAD3c.1273G>C (p.Val425Leu)
c.700G>C (p.Val234Leu)
c.1093G>C (p.Val365Leu)
c.*1192G>C (n.*1192G>C)
c.1111G>C (p.Val371Leu)
gnomAD v4
19g.11422705C>TCA404120028ODAD3c.1273G>A (p.Val425Met)
c.700G>A (p.Val234Met)
c.1093G>A (p.Val365Met)
c.*1192G>A (n.*1192G>A)
c.1111G>A (p.Val371Met)
gnomAD v4
19g.11422706C>ACA505749449ODAD3c.1272G>T (p.Leu424=)
c.699G>T (p.Leu233=)
c.1092G>T (p.Leu364=)
c.*1191G>T (n.*1191G>T)
c.1110G>T (p.Leu370=)
19g.11422706C>GCA505749450ODAD3c.1272G>C (p.Leu424=)
c.699G>C (p.Leu233=)
c.1092G>C (p.Leu364=)
c.*1191G>C (n.*1191G>C)
c.1110G>C (p.Leu370=)
19g.11422706C>TCA505749451ODAD3c.1272G>A (p.Leu424=)
c.699G>A (p.Leu233=)
c.1092G>A (p.Leu364=)
c.*1191G>A (n.*1191G>A)
c.1110G>A (p.Leu370=)
gnomAD v4
19g.11422707A>CCA404120030ODAD3c.1271T>G (p.Leu424Arg)
c.698T>G (p.Leu233Arg)
c.1091T>G (p.Leu364Arg)
c.*1190T>G (n.*1190T>G)
c.1109T>G (p.Leu370Arg)
19g.11422707A>GCA404120032ODAD3c.1271T>C (p.Leu424Pro)
c.698T>C (p.Leu233Pro)
c.1091T>C (p.Leu364Pro)
c.*1190T>C (n.*1190T>C)
c.1109T>C (p.Leu370Pro)
19g.11422707A>TCA404120033ODAD3c.1271T>A (p.Leu424Gln)
c.698T>A (p.Leu233Gln)
c.1091T>A (p.Leu364Gln)
c.*1190T>A (n.*1190T>A)
c.1109T>A (p.Leu370Gln)
19g.11422708G>ACA505749452ODAD3c.1270C>T (p.Leu424=)
c.697C>T (p.Leu233=)
c.1090C>T (p.Leu364=)
c.*1189C>T (n.*1189C>T)
c.1108C>T (p.Leu370=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422708G>CCA404120034ODAD3c.1270C>G (p.Leu424Val)
c.697C>G (p.Leu233Val)
c.1090C>G (p.Leu364Val)
c.*1189C>G (n.*1189C>G)
c.1108C>G (p.Leu370Val)
gnomAD v4
19g.11422708G=CA2322924984ODAD3c.1270C= (p.Leu424=)
c.697C= (p.Leu233=)
c.1090C= (p.Leu364=)
c.*1189C= (n.*1189C=)
c.1108C= (p.Leu370=)
19g.11422708G>TCA404120035ODAD3c.1270C>A (p.Leu424Met)
c.697C>A (p.Leu233Met)
c.1090C>A (p.Leu364Met)
c.*1189C>A (n.*1189C>A)
c.1108C>A (p.Leu370Met)
gnomAD v4
19g.11422709C>ACA505749453ODAD3c.1269G>T (p.Thr423=)
c.696G>T (p.Thr232=)
c.1089G>T (p.Thr363=)
c.*1188G>T (n.*1188G>T)
c.1107G>T (p.Thr369=)
19g.11422709C=CA2322924985ODAD3c.1269G= (p.Thr423=)
c.696G= (p.Thr232=)
c.1089G= (p.Thr363=)
c.*1188G= (n.*1188G=)
c.1107G= (p.Thr369=)
19g.11422709C>GCA505749454ODAD3c.1269G>C (p.Thr423=)
c.696G>C (p.Thr232=)
c.1089G>C (p.Thr363=)
c.*1188G>C (n.*1188G>C)
c.1107G>C (p.Thr369=)
19g.11422709C>TCA9212075ODAD3c.1269G>A (p.Thr423=)
c.696G>A (p.Thr232=)
c.1089G>A (p.Thr363=)
c.*1188G>A (n.*1188G>A)
c.1107G>A (p.Thr369=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422710G>ACA404120037ODAD3c.1268C>T (p.Thr423Met)
c.695C>T (p.Thr232Met)
c.1088C>T (p.Thr363Met)
c.*1187C>T (n.*1187C>T)
c.1106C>T (p.Thr369Met)
dbSNP
19g.11422710G>CCA404120041ODAD3c.1268C>G (p.Thr423Arg)
c.695C>G (p.Thr232Arg)
c.1088C>G (p.Thr363Arg)
c.*1187C>G (n.*1187C>G)
c.1106C>G (p.Thr369Arg)
19g.11422710G=CA2322924986ODAD3c.1268C= (p.Thr423=)
c.695C= (p.Thr232=)
c.1088C= (p.Thr363=)
c.*1187C= (n.*1187C=)
c.1106C= (p.Thr369=)
19g.11422710G>TCA404120039ODAD3c.1268C>A (p.Thr423Lys)
c.695C>A (p.Thr232Lys)
c.1088C>A (p.Thr363Lys)
c.*1187C>A (n.*1187C>A)
c.1106C>A (p.Thr369Lys)
19g.11422711T>ACA404120042ODAD3c.1267A>T (p.Thr423Ser)
c.694A>T (p.Thr232Ser)
c.1087A>T (p.Thr363Ser)
c.*1186A>T (n.*1186A>T)
c.1105A>T (p.Thr369Ser)
19g.11422711T>CCA404120044ODAD3c.1267A>G (p.Thr423Ala)
c.694A>G (p.Thr232Ala)
c.1087A>G (p.Thr363Ala)
c.*1186A>G (n.*1186A>G)
c.1105A>G (p.Thr369Ala)
19g.11422711T>GCA404120046ODAD3c.1267A>C (p.Thr423Pro)
c.694A>C (p.Thr232Pro)
c.1087A>C (p.Thr363Pro)
c.*1186A>C (n.*1186A>C)
c.1105A>C (p.Thr369Pro)
19g.11422712G>ACA9212076ODAD3c.1266C>T (p.Ala422=)
c.693C>T (p.Ala231=)
c.1086C>T (p.Ala362=)
c.*1185C>T (n.*1185C>T)
c.1104C>T (p.Ala368=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422712G>CCA505749456ODAD3c.1266C>G (p.Ala422=)
c.693C>G (p.Ala231=)
c.1086C>G (p.Ala362=)
c.*1185C>G (n.*1185C>G)
c.1104C>G (p.Ala368=)
19g.11422712G=CA2322924987ODAD3c.1266C= (p.Ala422=)
c.693C= (p.Ala231=)
c.1086C= (p.Ala362=)
c.*1185C= (n.*1185C=)
c.1104C= (p.Ala368=)
19g.11422712G>TCA505749455ODAD3c.1266C>A (p.Ala422=)
c.693C>A (p.Ala231=)
c.1086C>A (p.Ala362=)
c.*1185C>A (n.*1185C>A)
c.1104C>A (p.Ala368=)
gnomAD v4
19g.11422713G>ACA404120049ODAD3c.1265C>T (p.Ala422Val)
c.692C>T (p.Ala231Val)
c.1085C>T (p.Ala362Val)
c.*1184C>T (n.*1184C>T)
c.1103C>T (p.Ala368Val)
19g.11422713G>CCA404120051ODAD3c.1265C>G (p.Ala422Gly)
c.692C>G (p.Ala231Gly)
c.1085C>G (p.Ala362Gly)
c.*1184C>G (n.*1184C>G)
c.1103C>G (p.Ala368Gly)
19g.11422713G>TCA404120053ODAD3c.1265C>A (p.Ala422Asp)
c.692C>A (p.Ala231Asp)
c.1085C>A (p.Ala362Asp)
c.*1184C>A (n.*1184C>A)
c.1103C>A (p.Ala368Asp)
19g.11422714C>ACA404120054ODAD3c.1264G>T (p.Ala422Ser)
c.691G>T (p.Ala231Ser)
c.1084G>T (p.Ala362Ser)
c.*1183G>T (n.*1183G>T)
c.1102G>T (p.Ala368Ser)
19g.11422714C>GCA404120056ODAD3c.1264G>C (p.Ala422Pro)
c.691G>C (p.Ala231Pro)
c.1084G>C (p.Ala362Pro)
c.*1183G>C (n.*1183G>C)
c.1102G>C (p.Ala368Pro)
19g.11422714C>TCA404120058ODAD3c.1264G>A (p.Ala422Thr)
c.691G>A (p.Ala231Thr)
c.1084G>A (p.Ala362Thr)
c.*1183G>A (n.*1183G>A)
c.1102G>A (p.Ala368Thr)
gnomAD v4
19g.11422715C>ACA404120060ODAD3c.1263G>T (p.Glu421Asp)
c.690G>T (p.Glu230Asp)
c.1083G>T (p.Glu361Asp)
c.*1182G>T (n.*1182G>T)
c.1101G>T (p.Glu367Asp)
19g.11422715C>GCA404120061ODAD3c.1263G>C (p.Glu421Asp)
c.690G>C (p.Glu230Asp)
c.1083G>C (p.Glu361Asp)
c.*1182G>C (n.*1182G>C)
c.1101G>C (p.Glu367Asp)
gnomAD v4
19g.11422715C>TCA505749457ODAD3c.1263G>A (p.Glu421=)
c.690G>A (p.Glu230=)
c.1083G>A (p.Glu361=)
c.*1182G>A (n.*1182G>A)
c.1101G>A (p.Glu367=)
gnomAD v4
19g.11422716T>ACA404120067ODAD3c.1262A>T (p.Glu421Val)
c.689A>T (p.Glu230Val)
c.1082A>T (p.Glu361Val)
c.*1181A>T (n.*1181A>T)
c.1100A>T (p.Glu367Val)
19g.11422716T>CCA404120065ODAD3c.1262A>G (p.Glu421Gly)
c.689A>G (p.Glu230Gly)
c.1082A>G (p.Glu361Gly)
c.*1181A>G (n.*1181A>G)
c.1100A>G (p.Glu367Gly)
gnomAD v4
19g.11422716T>GCA404120064ODAD3c.1262A>C (p.Glu421Ala)
c.689A>C (p.Glu230Ala)
c.1082A>C (p.Glu361Ala)
c.*1181A>C (n.*1181A>C)
c.1100A>C (p.Glu367Ala)
19g.11422717C>ACA404120068ODAD3c.1261G>T (p.Glu421Ter)
c.688G>T (p.Glu230Ter)
c.1081G>T (p.Glu361Ter)
c.*1180G>T (n.*1180G>T)
c.1099G>T (p.Glu367Ter)
19g.11422717C>GCA404120070ODAD3c.1261G>C (p.Glu421Gln)
c.688G>C (p.Glu230Gln)
c.1081G>C (p.Glu361Gln)
c.*1180G>C (n.*1180G>C)
c.1099G>C (p.Glu367Gln)
19g.11422717C>TCA404120072ODAD3c.1261G>A (p.Glu421Lys)
c.688G>A (p.Glu230Lys)
c.1081G>A (p.Glu361Lys)
c.*1180G>A (n.*1180G>A)
c.1099G>A (p.Glu367Lys)
gnomAD v4 COSMIC
19g.11422718C>ACA505749458ODAD3c.1260G>T (p.Gly420=)
c.687G>T (p.Gly229=)
c.1080G>T (p.Gly360=)
c.*1179G>T (n.*1179G>T)
c.1098G>T (p.Gly366=)
19g.11422718C>GCA505749459ODAD3c.1260G>C (p.Gly420=)
c.687G>C (p.Gly229=)
c.1080G>C (p.Gly360=)
c.*1179G>C (n.*1179G>C)
c.1098G>C (p.Gly366=)
19g.11422718C>TCA505749460ODAD3c.1260G>A (p.Gly420=)
c.687G>A (p.Gly229=)
c.1080G>A (p.Gly360=)
c.*1179G>A (n.*1179G>A)
c.1098G>A (p.Gly366=)
gnomAD v4
19g.11422719C>ACA404120073ODAD3c.1259G>T (p.Gly420Val)
c.686G>T (p.Gly229Val)
c.1079G>T (p.Gly360Val)
c.*1178G>T (n.*1178G>T)
c.1097G>T (p.Gly366Val)
gnomAD v4
19g.11422719C=CA2322924988ODAD3c.1259G= (p.Gly420=)
c.686G= (p.Gly229=)
c.1079G= (p.Gly360=)
c.*1178G= (n.*1178G=)
c.1097G= (p.Gly366=)
19g.11422719C>GCA9212077ODAD3c.1259G>C (p.Gly420Ala)
c.686G>C (p.Gly229Ala)
c.1079G>C (p.Gly360Ala)
c.*1178G>C (n.*1178G>C)
c.1097G>C (p.Gly366Ala)
dbSNP ExAC
19g.11422719C>TCA404120075ODAD3c.1259G>A (p.Gly420Glu)
c.686G>A (p.Gly229Glu)
c.1079G>A (p.Gly360Glu)
c.*1178G>A (n.*1178G>A)
c.1097G>A (p.Gly366Glu)
19g.11422720C>ACA404120077ODAD3c.1258G>T (p.Gly420Trp)
c.685G>T (p.Gly229Trp)
c.1078G>T (p.Gly360Trp)
c.*1177G>T (n.*1177G>T)
c.1096G>T (p.Gly366Trp)
19g.11422720C>GCA404120079ODAD3c.1258G>C (p.Gly420Arg)
c.685G>C (p.Gly229Arg)
c.1078G>C (p.Gly360Arg)
c.*1177G>C (n.*1177G>C)
c.1096G>C (p.Gly366Arg)
19g.11422720C>TCA404120081ODAD3c.1258G>A (p.Gly420Arg)
c.685G>A (p.Gly229Arg)
c.1078G>A (p.Gly360Arg)
c.*1177G>A (n.*1177G>A)
c.1096G>A (p.Gly366Arg)
19g.11422721C>ACA505749461ODAD3c.1257G>T (p.Ser419=)
c.684G>T (p.Ser228=)
c.1077G>T (p.Ser359=)
c.*1176G>T (n.*1176G>T)
c.1095G>T (p.Ser365=)
19g.11422721C=CA2322924989ODAD3c.1257G= (p.Ser419=)
c.684G= (p.Ser228=)
c.1077G= (p.Ser359=)
c.*1176G= (n.*1176G=)
c.1095G= (p.Ser365=)
19g.11422721C>GCA505749462ODAD3c.1257G>C (p.Ser419=)
c.684G>C (p.Ser228=)
c.1077G>C (p.Ser359=)
c.*1176G>C (n.*1176G>C)
c.1095G>C (p.Ser365=)
19g.11422721C>TCA505749463ODAD3c.1257G>A (p.Ser419=)
c.684G>A (p.Ser228=)
c.1077G>A (p.Ser359=)
c.*1176G>A (n.*1176G>A)
c.1095G>A (p.Ser365=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422722G>ACA305327181ODAD3c.1256C>T (p.Ser419Leu)
c.683C>T (p.Ser228Leu)
c.1076C>T (p.Ser359Leu)
c.*1175C>T (n.*1175C>T)
c.1094C>T (p.Ser365Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422722G>CCA404120082ODAD3c.1256C>G (p.Ser419Trp)
c.683C>G (p.Ser228Trp)
c.1076C>G (p.Ser359Trp)
c.*1175C>G (n.*1175C>G)
c.1094C>G (p.Ser365Trp)
19g.11422722G=CA2322924990ODAD3c.1256C= (p.Ser419=)
c.683C= (p.Ser228=)
c.1076C= (p.Ser359=)
c.*1175C= (n.*1175C=)
c.1094C= (p.Ser365=)
19g.11422722G>TCA170853ODAD3c.1256C>A (p.Ser419Ter)
c.683C>A (p.Ser228Ter)
c.1076C>A (p.Ser359Ter)
c.*1175C>A (n.*1175C>A)
c.1094C>A (p.Ser365Ter)
ClinVar dbSNP gnomAD v4
19g.11422723A>CCA404120088ODAD3c.1255T>G (p.Ser419Ala)
c.682T>G (p.Ser228Ala)
c.1075T>G (p.Ser359Ala)
c.*1174T>G (n.*1174T>G)
c.1093T>G (p.Ser365Ala)
19g.11422723A>GCA404120087ODAD3c.1255T>C (p.Ser419Pro)
c.682T>C (p.Ser228Pro)
c.1075T>C (p.Ser359Pro)
c.*1174T>C (n.*1174T>C)
c.1093T>C (p.Ser365Pro)
19g.11422723A>TCA404120085ODAD3c.1255T>A (p.Ser419Thr)
c.682T>A (p.Ser228Thr)
c.1075T>A (p.Ser359Thr)
c.*1174T>A (n.*1174T>A)
c.1093T>A (p.Ser365Thr)
19g.11422724G>ACA9212078ODAD3c.1254C>T (p.Tyr418=)
c.681C>T (p.Tyr227=)
c.1074C>T (p.Tyr358=)
c.*1173C>T (n.*1173C>T)
c.1092C>T (p.Tyr364=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422724G>CCA404120093ODAD3c.1254C>G (p.Tyr418Ter)
c.681C>G (p.Tyr227Ter)
c.1074C>G (p.Tyr358Ter)
c.*1173C>G (n.*1173C>G)
c.1092C>G (p.Tyr364Ter)
19g.11422724G=CA2322924991ODAD3c.1254C= (p.Tyr418=)
c.681C= (p.Tyr227=)
c.1074C= (p.Tyr358=)
c.*1173C= (n.*1173C=)
c.1092C= (p.Tyr364=)
19g.11422724G>TCA404120091ODAD3c.1254C>A (p.Tyr418Ter)
c.681C>A (p.Tyr227Ter)
c.1074C>A (p.Tyr358Ter)
c.*1173C>A (n.*1173C>A)
c.1092C>A (p.Tyr364Ter)
gnomAD v4
19g.11422725T>ACA404120094ODAD3c.1253A>T (p.Tyr418Phe)
c.680A>T (p.Tyr227Phe)
c.1073A>T (p.Tyr358Phe)
c.*1172A>T (n.*1172A>T)
c.1091A>T (p.Tyr364Phe)
19g.11422725T>CCA404120095ODAD3c.1253A>G (p.Tyr418Cys)
c.680A>G (p.Tyr227Cys)
c.1073A>G (p.Tyr358Cys)
c.*1172A>G (n.*1172A>G)
c.1091A>G (p.Tyr364Cys)
19g.11422725T>GCA404120096ODAD3c.1253A>C (p.Tyr418Ser)
c.680A>C (p.Tyr227Ser)
c.1073A>C (p.Tyr358Ser)
c.*1172A>C (n.*1172A>C)
c.1091A>C (p.Tyr364Ser)
19g.11422726A>CCA404120097ODAD3c.1252T>G (p.Tyr418Asp)
c.679T>G (p.Tyr227Asp)
c.1072T>G (p.Tyr358Asp)
c.*1171T>G (n.*1171T>G)
c.1090T>G (p.Tyr364Asp)
19g.11422726A>GCA404120099ODAD3c.1252T>C (p.Tyr418His)
c.679T>C (p.Tyr227His)
c.1072T>C (p.Tyr358His)
c.*1171T>C (n.*1171T>C)
c.1090T>C (p.Tyr364His)
19g.11422726A>TCA404120101ODAD3c.1252T>A (p.Tyr418Asn)
c.679T>A (p.Tyr227Asn)
c.1072T>A (p.Tyr358Asn)
c.*1171T>A (n.*1171T>A)
c.1090T>A (p.Tyr364Asn)
19g.11422727C>ACA404120103ODAD3c.1251G>T (p.Lys417Asn)
c.678G>T (p.Lys226Asn)
c.1071G>T (p.Lys357Asn)
c.*1170G>T (n.*1170G>T)
c.1089G>T (p.Lys363Asn)
19g.11422727C>GCA404120104ODAD3c.1251G>C (p.Lys417Asn)
c.678G>C (p.Lys226Asn)
c.1071G>C (p.Lys357Asn)
c.*1170G>C (n.*1170G>C)
c.1089G>C (p.Lys363Asn)
19g.11422727C>TCA505749464ODAD3c.1251G>A (p.Lys417=)
c.678G>A (p.Lys226=)
c.1071G>A (p.Lys357=)
c.*1170G>A (n.*1170G>A)
c.1089G>A (p.Lys363=)
gnomAD v4
19g.11422728T>ACA404120106ODAD3c.1250A>T (p.Lys417Met)
c.677A>T (p.Lys226Met)
c.1070A>T (p.Lys357Met)
c.*1169A>T (n.*1169A>T)
c.1088A>T (p.Lys363Met)
19g.11422728T>CCA404120109ODAD3c.1250A>G (p.Lys417Arg)
c.677A>G (p.Lys226Arg)
c.1070A>G (p.Lys357Arg)
c.*1169A>G (n.*1169A>G)
c.1088A>G (p.Lys363Arg)
gnomAD v4
19g.11422728T>GCA404120111ODAD3c.1250A>C (p.Lys417Thr)
c.677A>C (p.Lys226Thr)
c.1070A>C (p.Lys357Thr)
c.*1169A>C (n.*1169A>C)
c.1088A>C (p.Lys363Thr)
19g.11422729T>ACA404120113ODAD3c.1249A>T (p.Lys417Ter)
c.676A>T (p.Lys226Ter)
c.1069A>T (p.Lys357Ter)
c.*1168A>T (n.*1168A>T)
c.1087A>T (p.Lys363Ter)
19g.11422729T>CCA404120115ODAD3c.1249A>G (p.Lys417Glu)
c.676A>G (p.Lys226Glu)
c.1069A>G (p.Lys357Glu)
c.*1168A>G (n.*1168A>G)
c.1087A>G (p.Lys363Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422729T>GCA404120116ODAD3c.1249A>C (p.Lys417Gln)
c.676A>C (p.Lys226Gln)
c.1069A>C (p.Lys357Gln)
c.*1168A>C (n.*1168A>C)
c.1087A>C (p.Lys363Gln)
gnomAD v4
19g.11422729T=CA2322924992ODAD3c.1249A= (p.Lys417=)
c.676A= (p.Lys226=)
c.1069A= (p.Lys357=)
c.*1168A= (n.*1168A=)
c.1087A= (p.Lys363=)
19g.11422730G>ACA505749465ODAD3c.1248C>T (p.Leu416=)
c.675C>T (p.Leu225=)
c.1068C>T (p.Leu356=)
c.*1167C>T (n.*1167C>T)
c.1086C>T (p.Leu362=)
dbSNP gnomAD v4
19g.11422730G>CCA505749466ODAD3c.1248C>G (p.Leu416=)
c.675C>G (p.Leu225=)
c.1068C>G (p.Leu356=)
c.*1167C>G (n.*1167C>G)
c.1086C>G (p.Leu362=)
19g.11422730G=CA2322924993ODAD3c.1248C= (p.Leu416=)
c.675C= (p.Leu225=)
c.1068C= (p.Leu356=)
c.*1167C= (n.*1167C=)
c.1086C= (p.Leu362=)
19g.11422730G>TCA505749467ODAD3c.1248C>A (p.Leu416=)
c.675C>A (p.Leu225=)
c.1068C>A (p.Leu356=)
c.*1167C>A (n.*1167C>A)
c.1086C>A (p.Leu362=)
gnomAD v4
19g.11422731A>CCA404120121ODAD3c.1247T>G (p.Leu416Arg)
c.674T>G (p.Leu225Arg)
c.1067T>G (p.Leu356Arg)
c.*1166T>G (n.*1166T>G)
c.1085T>G (p.Leu362Arg)
19g.11422731A>GCA404120119ODAD3c.1247T>C (p.Leu416Pro)
c.674T>C (p.Leu225Pro)
c.1067T>C (p.Leu356Pro)
c.*1166T>C (n.*1166T>C)
c.1085T>C (p.Leu362Pro)
19g.11422731A>TCA404120118ODAD3c.1247T>A (p.Leu416His)
c.674T>A (p.Leu225His)
c.1067T>A (p.Leu356His)
c.*1166T>A (n.*1166T>A)
c.1085T>A (p.Leu362His)
19g.11422732G>ACA305327191ODAD3c.1246C>T (p.Leu416Phe)
c.673C>T (p.Leu225Phe)
c.1066C>T (p.Leu356Phe)
c.*1165C>T (n.*1165C>T)
c.1084C>T (p.Leu362Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11422732G>CCA404120124ODAD3c.1246C>G (p.Leu416Val)
c.673C>G (p.Leu225Val)
c.1066C>G (p.Leu356Val)
c.*1165C>G (n.*1165C>G)
c.1084C>G (p.Leu362Val)
19g.11422732G=CA2322924994ODAD3c.1246C= (p.Leu416=)
c.673C= (p.Leu225=)
c.1066C= (p.Leu356=)
c.*1165C= (n.*1165C=)
c.1084C= (p.Leu362=)
19g.11422732G>TCA404120125ODAD3c.1246C>A (p.Leu416Ile)
c.673C>A (p.Leu225Ile)
c.1066C>A (p.Leu356Ile)
c.*1165C>A (n.*1165C>A)
c.1084C>A (p.Leu362Ile)
gnomAD v4
19g.11422733G>ACA9212079ODAD3c.1245C>T (p.Asp415=)
c.672C>T (p.Asp224=)
c.1065C>T (p.Asp355=)
c.*1164C>T (n.*1164C>T)
c.1083C>T (p.Asp361=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422733G>CCA404120128ODAD3c.1245C>G (p.Asp415Glu)
c.672C>G (p.Asp224Glu)
c.1065C>G (p.Asp355Glu)
c.*1164C>G (n.*1164C>G)
c.1083C>G (p.Asp361Glu)
19g.11422733G=CA2322924995ODAD3c.1245C= (p.Asp415=)
c.672C= (p.Asp224=)
c.1065C= (p.Asp355=)
c.*1164C= (n.*1164C=)
c.1083C= (p.Asp361=)
19g.11422733G>TCA404120130ODAD3c.1245C>A (p.Asp415Glu)
c.672C>A (p.Asp224Glu)
c.1065C>A (p.Asp355Glu)
c.*1164C>A (n.*1164C>A)
c.1083C>A (p.Asp361Glu)
19g.11422734T>ACA404120132ODAD3c.1244A>T (p.Asp415Val)
c.671A>T (p.Asp224Val)
c.1064A>T (p.Asp355Val)
c.*1163A>T (n.*1163A>T)
c.1082A>T (p.Asp361Val)
19g.11422734T>CCA404120133ODAD3c.1244A>G (p.Asp415Gly)
c.671A>G (p.Asp224Gly)
c.1064A>G (p.Asp355Gly)
c.*1163A>G (n.*1163A>G)
c.1082A>G (p.Asp361Gly)
19g.11422734T>GCA404120135ODAD3c.1244A>C (p.Asp415Ala)
c.671A>C (p.Asp224Ala)
c.1064A>C (p.Asp355Ala)
c.*1163A>C (n.*1163A>C)
c.1082A>C (p.Asp361Ala)
19g.11422735C>ACA404120136ODAD3c.1243G>T (p.Asp415Tyr)
c.670G>T (p.Asp224Tyr)
c.1063G>T (p.Asp355Tyr)
c.*1162G>T (n.*1162G>T)
c.1081G>T (p.Asp361Tyr)
gnomAD v4
19g.11422735C>GCA404120138ODAD3c.1243G>C (p.Asp415His)
c.670G>C (p.Asp224His)
c.1063G>C (p.Asp355His)
c.*1162G>C (n.*1162G>C)
c.1081G>C (p.Asp361His)
19g.11422735C>TCA404120140ODAD3c.1243G>A (p.Asp415Asn)
c.670G>A (p.Asp224Asn)
c.1063G>A (p.Asp355Asn)
c.*1162G>A (n.*1162G>A)
c.1081G>A (p.Asp361Asn)
19g.11422736T>ACA404120141ODAD3c.1242A>T (p.Glu414Asp)
c.669A>T (p.Glu223Asp)
c.1062A>T (p.Glu354Asp)
c.*1161A>T (n.*1161A>T)
c.1080A>T (p.Glu360Asp)
19g.11422736T>CCA505749468ODAD3c.1242A>G (p.Glu414=)
c.669A>G (p.Glu223=)
c.1062A>G (p.Glu354=)
c.*1161A>G (n.*1161A>G)
c.1080A>G (p.Glu360=)
19g.11422736T>GCA404120142ODAD3c.1242A>C (p.Glu414Asp)
c.669A>C (p.Glu223Asp)
c.1062A>C (p.Glu354Asp)
c.*1161A>C (n.*1161A>C)
c.1080A>C (p.Glu360Asp)
19g.11422737T>ACA404120146ODAD3c.1241A>T (p.Glu414Val)
c.668A>T (p.Glu223Val)
c.1061A>T (p.Glu354Val)
c.*1160A>T (n.*1160A>T)
c.1079A>T (p.Glu360Val)
19g.11422737T>CCA404120145ODAD3c.1241A>G (p.Glu414Gly)
c.668A>G (p.Glu223Gly)
c.1061A>G (p.Glu354Gly)
c.*1160A>G (n.*1160A>G)
c.1079A>G (p.Glu360Gly)
19g.11422737T>GCA404120143ODAD3c.1241A>C (p.Glu414Ala)
c.668A>C (p.Glu223Ala)
c.1061A>C (p.Glu354Ala)
c.*1160A>C (n.*1160A>C)
c.1079A>C (p.Glu360Ala)
19g.11422738C>ACA404120148ODAD3c.1240G>T (p.Glu414Ter)
c.667G>T (p.Glu223Ter)
c.1060G>T (p.Glu354Ter)
c.*1159G>T (n.*1159G>T)
c.1078G>T (p.Glu360Ter)
19g.11422738C=CA2322924996ODAD3c.1240G= (p.Glu414=)
c.667G= (p.Glu223=)
c.1060G= (p.Glu354=)
c.*1159G= (n.*1159G=)
c.1078G= (p.Glu360=)
19g.11422738C>GCA404120149ODAD3c.1240G>C (p.Glu414Gln)
c.667G>C (p.Glu223Gln)
c.1060G>C (p.Glu354Gln)
c.*1159G>C (n.*1159G>C)
c.1078G>C (p.Glu360Gln)
19g.11422738C>TCA9212080ODAD3c.1240G>A (p.Glu414Lys)
c.667G>A (p.Glu223Lys)
c.1060G>A (p.Glu354Lys)
c.*1159G>A (n.*1159G>A)
c.1078G>A (p.Glu360Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11422739C>ACA505749469ODAD3c.1239G>T (p.Leu413=)
c.666G>T (p.Leu222=)
c.1059G>T (p.Leu353=)
c.*1158G>T (n.*1158G>T)
c.1077G>T (p.Leu359=)
19g.11422739C=CA2322924997ODAD3c.1239G= (p.Leu413=)
c.666G= (p.Leu222=)
c.1059G= (p.Leu353=)
c.*1158G= (n.*1158G=)
c.1077G= (p.Leu359=)
19g.11422739C>GCA505749470ODAD3c.1239G>C (p.Leu413=)
c.666G>C (p.Leu222=)
c.1059G>C (p.Leu353=)
c.*1158G>C (n.*1158G>C)
c.1077G>C (p.Leu359=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422739C>TCA305327216ODAD3c.1239G>A (p.Leu413=)
c.666G>A (p.Leu222=)
c.1059G>A (p.Leu353=)
c.*1158G>A (n.*1158G>A)
c.1077G>A (p.Leu359=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422740A>CCA404120151ODAD3c.1238T>G (p.Leu413Arg)
c.665T>G (p.Leu222Arg)
c.1058T>G (p.Leu353Arg)
c.*1157T>G (n.*1157T>G)
c.1076T>G (p.Leu359Arg)
19g.11422740A>GCA404120152ODAD3c.1238T>C (p.Leu413Pro)
c.665T>C (p.Leu222Pro)
c.1058T>C (p.Leu353Pro)
c.*1157T>C (n.*1157T>C)
c.1076T>C (p.Leu359Pro)
gnomAD v4
19g.11422740A>TCA404120154ODAD3c.1238T>A (p.Leu413Gln)
c.665T>A (p.Leu222Gln)
c.1058T>A (p.Leu353Gln)
c.*1157T>A (n.*1157T>A)
c.1076T>A (p.Leu359Gln)
19g.11422741G>ACA505749471ODAD3c.1237C>T (p.Leu413=)
c.664C>T (p.Leu222=)
c.1057C>T (p.Leu353=)
c.*1156C>T (n.*1156C>T)
c.1075C>T (p.Leu359=)
19g.11422741G>CCA404120156ODAD3c.1237C>G (p.Leu413Val)
c.664C>G (p.Leu222Val)
c.1057C>G (p.Leu353Val)
c.*1156C>G (n.*1156C>G)
c.1075C>G (p.Leu359Val)
dbSNP gnomAD v2 gnomAD v4
19g.11422741G=CA2322924998ODAD3c.1237C= (p.Leu413=)
c.664C= (p.Leu222=)
c.1057C= (p.Leu353=)
c.*1156C= (n.*1156C=)
c.1075C= (p.Leu359=)
19g.11422741G>TCA404120158ODAD3c.1237C>A (p.Leu413Met)
c.664C>A (p.Leu222Met)
c.1057C>A (p.Leu353Met)
c.*1156C>A (n.*1156C>A)
c.1075C>A (p.Leu359Met)
19g.11422742C>ACA404120159ODAD3c.1236G>T (p.Glu412Asp)
c.663G>T (p.Glu221Asp)
c.1056G>T (p.Glu352Asp)
c.*1155G>T (n.*1155G>T)
c.1074G>T (p.Glu358Asp)
19g.11422742C=CA2322924999ODAD3c.1236G= (p.Glu412=)
c.663G= (p.Glu221=)
c.1056G= (p.Glu352=)
c.*1155G= (n.*1155G=)
c.1074G= (p.Glu358=)
19g.11422742C>GCA404120160ODAD3c.1236G>C (p.Glu412Asp)
c.663G>C (p.Glu221Asp)
c.1056G>C (p.Glu352Asp)
c.*1155G>C (n.*1155G>C)
c.1074G>C (p.Glu358Asp)
gnomAD v4
19g.11422742C>TCA505749472ODAD3c.1236G>A (p.Glu412=)
c.663G>A (p.Glu221=)
c.1056G>A (p.Glu352=)
c.*1155G>A (n.*1155G>A)
c.1074G>A (p.Glu358=)
dbSNP
19g.11422743T>ACA404120162ODAD3c.1235A>T (p.Glu412Val)
c.662A>T (p.Glu221Val)
c.1055A>T (p.Glu352Val)
c.*1154A>T (n.*1154A>T)
c.1073A>T (p.Glu358Val)
19g.11422743T>CCA404120164ODAD3c.1235A>G (p.Glu412Gly)
c.662A>G (p.Glu221Gly)
c.1055A>G (p.Glu352Gly)
c.*1154A>G (n.*1154A>G)
c.1073A>G (p.Glu358Gly)
19g.11422743T>GCA404120166ODAD3c.1235A>C (p.Glu412Ala)
c.662A>C (p.Glu221Ala)
c.1055A>C (p.Glu352Ala)
c.*1154A>C (n.*1154A>C)
c.1073A>C (p.Glu358Ala)
19g.11422744C>ACA404120171ODAD3c.1234G>T (p.Glu412Ter)
c.661G>T (p.Glu221Ter)
c.1054G>T (p.Glu352Ter)
c.*1153G>T (n.*1153G>T)
c.1072G>T (p.Glu358Ter)
19g.11422744C>GCA404120169ODAD3c.1234G>C (p.Glu412Gln)
c.661G>C (p.Glu221Gln)
c.1054G>C (p.Glu352Gln)
c.*1153G>C (n.*1153G>C)
c.1072G>C (p.Glu358Gln)
19g.11422744C>TCA404120167ODAD3c.1234G>A (p.Glu412Lys)
c.661G>A (p.Glu221Lys)
c.1054G>A (p.Glu352Lys)
c.*1153G>A (n.*1153G>A)
c.1072G>A (p.Glu358Lys)
gnomAD v4
19g.11422745C>ACA505749474ODAD3c.1233G>T (p.Arg411=)
c.660G>T (p.Arg220=)
c.1053G>T (p.Arg351=)
c.*1152G>T (n.*1152G>T)
c.1071G>T (p.Arg357=)
19g.11422745C>GCA505749475ODAD3c.1233G>C (p.Arg411=)
c.660G>C (p.Arg220=)
c.1053G>C (p.Arg351=)
c.*1152G>C (n.*1152G>C)
c.1071G>C (p.Arg357=)
19g.11422745C>TCA505749473ODAD3c.1233G>A (p.Arg411=)
c.660G>A (p.Arg220=)
c.1053G>A (p.Arg351=)
c.*1152G>A (n.*1152G>A)
c.1071G>A (p.Arg357=)
COSMIC
19g.11422746C>ACA404120172ODAD3c.1232G>T (p.Arg411Leu)
c.659G>T (p.Arg220Leu)
c.1052G>T (p.Arg351Leu)
c.*1151G>T (n.*1151G>T)
c.1070G>T (p.Arg357Leu)
19g.11422746C=CA2322925000ODAD3c.1232G= (p.Arg411=)
c.659G= (p.Arg220=)
c.1052G= (p.Arg351=)
c.*1151G= (n.*1151G=)
c.1070G= (p.Arg357=)
19g.11422746C>GCA404120173ODAD3c.1232G>C (p.Arg411Pro)
c.659G>C (p.Arg220Pro)
c.1052G>C (p.Arg351Pro)
c.*1151G>C (n.*1151G>C)
c.1070G>C (p.Arg357Pro)
19g.11422746C>TCA404120174ODAD3c.1232G>A (p.Arg411Gln)
c.659G>A (p.Arg220Gln)
c.1052G>A (p.Arg351Gln)
c.*1151G>A (n.*1151G>A)
c.1070G>A (p.Arg357Gln)
dbSNP gnomAD v2 gnomAD v4
19g.11422747G>ACA404120176ODAD3c.1231C>T (p.Arg411Trp)
c.658C>T (p.Arg220Trp)
c.1051C>T (p.Arg351Trp)
c.*1150C>T (n.*1150C>T)
c.1069C>T (p.Arg357Trp)
gnomAD v4
19g.11422747G>CCA404120177ODAD3c.1231C>G (p.Arg411Gly)
c.658C>G (p.Arg220Gly)
c.1051C>G (p.Arg351Gly)
c.*1150C>G (n.*1150C>G)
c.1069C>G (p.Arg357Gly)
19g.11422747G>TCA505749476ODAD3c.1231C>A (p.Arg411=)
c.658C>A (p.Arg220=)
c.1051C>A (p.Arg351=)
c.*1150C>A (n.*1150C>A)
c.1069C>A (p.Arg357=)
gnomAD v4
19g.11422748C>ACA404120179ODAD3c.1230G>T (p.Gln410His)
c.657G>T (p.Gln219His)
c.1050G>T (p.Gln350His)
c.*1149G>T (n.*1149G>T)
c.1068G>T (p.Gln356His)
19g.11422748C>GCA404120180ODAD3c.1230G>C (p.Gln410His)
c.657G>C (p.Gln219His)
c.1050G>C (p.Gln350His)
c.*1149G>C (n.*1149G>C)
c.1068G>C (p.Gln356His)
dbSNP
19g.11422748C>TCA505749477ODAD3c.1230G>A (p.Gln410=)
c.657G>A (p.Gln219=)
c.1050G>A (p.Gln350=)
c.*1149G>A (n.*1149G>A)
c.1068G>A (p.Gln356=)
gnomAD v4
19g.11422749T>ACA404120181ODAD3c.1229A>T (p.Gln410Leu)
c.656A>T (p.Gln219Leu)
c.1049A>T (p.Gln350Leu)
c.*1148A>T (n.*1148A>T)
c.1067A>T (p.Gln356Leu)
19g.11422749T>CCA404120182ODAD3c.1229A>G (p.Gln410Arg)
c.656A>G (p.Gln219Arg)
c.1049A>G (p.Gln350Arg)
c.*1148A>G (n.*1148A>G)
c.1067A>G (p.Gln356Arg)
19g.11422749T>GCA404120184ODAD3c.1229A>C (p.Gln410Pro)
c.656A>C (p.Gln219Pro)
c.1049A>C (p.Gln350Pro)
c.*1148A>C (n.*1148A>C)
c.1067A>C (p.Gln356Pro)
19g.11422750G>ACA404120186ODAD3c.1228C>T (p.Gln410Ter)
c.655C>T (p.Gln219Ter)
c.1048C>T (p.Gln350Ter)
c.*1147C>T (n.*1147C>T)
c.1066C>T (p.Gln356Ter)
19g.11422750G>CCA305327220ODAD3c.1228C>G (p.Gln410Glu)
c.655C>G (p.Gln219Glu)
c.1048C>G (p.Gln350Glu)
c.*1147C>G (n.*1147C>G)
c.1066C>G (p.Gln356Glu)
dbSNP
19g.11422750G=CA2322925001ODAD3c.1228C= (p.Gln410=)
c.655C= (p.Gln219=)
c.1048C= (p.Gln350=)
c.*1147C= (n.*1147C=)
c.1066C= (p.Gln356=)
19g.11422750G>TCA404120188ODAD3c.1228C>A (p.Gln410Lys)
c.655C>A (p.Gln219Lys)
c.1048C>A (p.Gln350Lys)
c.*1147C>A (n.*1147C>A)
c.1066C>A (p.Gln356Lys)
gnomAD v4
19g.11422751C>ACA505749478ODAD3c.1227G>T (p.Leu409=)
c.654G>T (p.Leu218=)
c.1047G>T (p.Leu349=)
c.*1146G>T (n.*1146G>T)
c.1065G>T (p.Leu355=)
19g.11422751C>GCA505749480ODAD3c.1227G>C (p.Leu409=)
c.654G>C (p.Leu218=)
c.1047G>C (p.Leu349=)
c.*1146G>C (n.*1146G>C)
c.1065G>C (p.Leu355=)
19g.11422751C>TCA505749479ODAD3c.1227G>A (p.Leu409=)
c.654G>A (p.Leu218=)
c.1047G>A (p.Leu349=)
c.*1146G>A (n.*1146G>A)
c.1065G>A (p.Leu355=)
19g.11422752A>CCA404120191ODAD3c.1226T>G (p.Leu409Arg)
c.653T>G (p.Leu218Arg)
c.1046T>G (p.Leu349Arg)
c.*1145T>G (n.*1145T>G)
c.1064T>G (p.Leu355Arg)
gnomAD v4
19g.11422752A>GCA404120193ODAD3c.1226T>C (p.Leu409Pro)
c.653T>C (p.Leu218Pro)
c.1046T>C (p.Leu349Pro)
c.*1145T>C (n.*1145T>C)
c.1064T>C (p.Leu355Pro)
19g.11422752A>TCA404120190ODAD3c.1226T>A (p.Leu409Gln)
c.653T>A (p.Leu218Gln)
c.1046T>A (p.Leu349Gln)
c.*1145T>A (n.*1145T>A)
c.1064T>A (p.Leu355Gln)
19g.11422753G>ACA9212081ODAD3c.1225C>T (p.Leu409=)
c.652C>T (p.Leu218=)
c.1045C>T (p.Leu349=)
c.*1144C>T (n.*1144C>T)
c.1063C>T (p.Leu355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422753G>CCA404120197ODAD3c.1225C>G (p.Leu409Val)
c.652C>G (p.Leu218Val)
c.1045C>G (p.Leu349Val)
c.*1144C>G (n.*1144C>G)
c.1063C>G (p.Leu355Val)
19g.11422753G=CA2322925002ODAD3c.1225C= (p.Leu409=)
c.652C= (p.Leu218=)
c.1045C= (p.Leu349=)
c.*1144C= (n.*1144C=)
c.1063C= (p.Leu355=)
19g.11422753G>TCA404120195ODAD3c.1225C>A (p.Leu409Met)
c.652C>A (p.Leu218Met)
c.1045C>A (p.Leu349Met)
c.*1144C>A (n.*1144C>A)
c.1063C>A (p.Leu355Met)
19g.11422754T>ACA404120199ODAD3c.1224A>T (p.Gln408His)
c.651A>T (p.Gln217His)
c.1044A>T (p.Gln348His)
c.*1143A>T (n.*1143A>T)
c.1062A>T (p.Gln354His)
19g.11422754T>CCA505749481ODAD3c.1224A>G (p.Gln408=)
c.651A>G (p.Gln217=)
c.1044A>G (p.Gln348=)
c.*1143A>G (n.*1143A>G)
c.1062A>G (p.Gln354=)
19g.11422754T>GCA404120200ODAD3c.1224A>C (p.Gln408His)
c.651A>C (p.Gln217His)
c.1044A>C (p.Gln348His)
c.*1143A>C (n.*1143A>C)
c.1062A>C (p.Gln354His)
19g.11422755T>ACA404120201ODAD3c.1223A>T (p.Gln408Leu)
c.650A>T (p.Gln217Leu)
c.1043A>T (p.Gln348Leu)
c.*1142A>T (n.*1142A>T)
c.1061A>T (p.Gln354Leu)
19g.11422755T>CCA404120202ODAD3c.1223A>G (p.Gln408Arg)
c.650A>G (p.Gln217Arg)
c.1043A>G (p.Gln348Arg)
c.*1142A>G (n.*1142A>G)
c.1061A>G (p.Gln354Arg)
19g.11422755T>GCA404120203ODAD3c.1223A>C (p.Gln408Pro)
c.650A>C (p.Gln217Pro)
c.1043A>C (p.Gln348Pro)
c.*1142A>C (n.*1142A>C)
c.1061A>C (p.Gln354Pro)
19g.11422756G>ACA404120205ODAD3c.1222C>T (p.Gln408Ter)
c.649C>T (p.Gln217Ter)
c.1042C>T (p.Gln348Ter)
c.*1141C>T (n.*1141C>T)
c.1060C>T (p.Gln354Ter)
gnomAD v4
19g.11422756G>CCA404120207ODAD3c.1222C>G (p.Gln408Glu)
c.649C>G (p.Gln217Glu)
c.1042C>G (p.Gln348Glu)
c.*1141C>G (n.*1141C>G)
c.1060C>G (p.Gln354Glu)
gnomAD v4
19g.11422756G>TCA404120208ODAD3c.1222C>A (p.Gln408Lys)
c.649C>A (p.Gln217Lys)
c.1042C>A (p.Gln348Lys)
c.*1141C>A (n.*1141C>A)
c.1060C>A (p.Gln354Lys)
19g.11422757T>ACA404120210ODAD3c.1221A>T (p.Gln407His)
c.648A>T (p.Gln216His)
c.1041A>T (p.Gln347His)
c.*1140A>T (n.*1140A>T)
c.1059A>T (p.Gln353His)
19g.11422757T>CCA505749482ODAD3c.1221A>G (p.Gln407=)
c.648A>G (p.Gln216=)
c.1041A>G (p.Gln347=)
c.*1140A>G (n.*1140A>G)
c.1059A>G (p.Gln353=)
gnomAD v4
19g.11422757T>GCA404120211ODAD3c.1221A>C (p.Gln407His)
c.648A>C (p.Gln216His)
c.1041A>C (p.Gln347His)
c.*1140A>C (n.*1140A>C)
c.1059A>C (p.Gln353His)
19g.11422758T>ACA404120216ODAD3c.1220A>T (p.Gln407Leu)
c.647A>T (p.Gln216Leu)
c.1040A>T (p.Gln347Leu)
c.*1139A>T (n.*1139A>T)
c.1058A>T (p.Gln353Leu)
19g.11422758T>CCA404120214ODAD3c.1220A>G (p.Gln407Arg)
c.647A>G (p.Gln216Arg)
c.1040A>G (p.Gln347Arg)
c.*1139A>G (n.*1139A>G)
c.1058A>G (p.Gln353Arg)
19g.11422758T>GCA404120212ODAD3c.1220A>C (p.Gln407Pro)
c.647A>C (p.Gln216Pro)
c.1040A>C (p.Gln347Pro)
c.*1139A>C (n.*1139A>C)
c.1058A>C (p.Gln353Pro)
19g.11422759G>ACA404120218ODAD3c.1219C>T (p.Gln407Ter)
c.646C>T (p.Gln216Ter)
c.1039C>T (p.Gln347Ter)
c.*1138C>T (n.*1138C>T)
c.1057C>T (p.Gln353Ter)
19g.11422759G>CCA404120219ODAD3c.1219C>G (p.Gln407Glu)
c.646C>G (p.Gln216Glu)
c.1039C>G (p.Gln347Glu)
c.*1138C>G (n.*1138C>G)
c.1057C>G (p.Gln353Glu)
19g.11422759G>TCA404120221ODAD3c.1219C>A (p.Gln407Lys)
c.646C>A (p.Gln216Lys)
c.1039C>A (p.Gln347Lys)
c.*1138C>A (n.*1138C>A)
c.1057C>A (p.Gln353Lys)
gnomAD v4
19g.11422759_11422760delinsGCCA2322925003ODAD3c.1218_1219delinsGC (p.Lys406=)
c.645_646delinsGC (p.Lys215=)
c.1038_1039delinsGC (p.Lys346=)
c.*1137_*1138delinsGC (n.*1137_*1138delinsGC)
c.1056_1057delinsGC (p.Lys352=)
19g.11422760delCA9212082ODAD3c.1218del (p.Lys406AsnfsTer20)
c.645del (p.Lys215AsnfsTer20)
c.1038del (p.Lys346AsnfsTer20)
c.*1137del (n.*1137del)
c.1056del (p.Lys352AsnfsTer20)
dbSNP ExAC gnomAD v2
19g.11422760C>ACA404120223ODAD3c.1218G>T (p.Lys406Asn)
c.645G>T (p.Lys215Asn)
c.1038G>T (p.Lys346Asn)
c.*1137G>T (n.*1137G>T)
c.1056G>T (p.Lys352Asn)
19g.11422760C>GCA404120224ODAD3c.1218G>C (p.Lys406Asn)
c.645G>C (p.Lys215Asn)
c.1038G>C (p.Lys346Asn)
c.*1137G>C (n.*1137G>C)
c.1056G>C (p.Lys352Asn)
19g.11422760C>TCA505749483ODAD3c.1218G>A (p.Lys406=)
c.645G>A (p.Lys215=)
c.1038G>A (p.Lys346=)
c.*1137G>A (n.*1137G>A)
c.1056G>A (p.Lys352=)
19g.11422761T>ACA404120227ODAD3c.1217A>T (p.Lys406Met)
c.644A>T (p.Lys215Met)
c.1037A>T (p.Lys346Met)
c.*1136A>T (n.*1136A>T)
c.1055A>T (p.Lys352Met)
19g.11422761T>CCA404120229ODAD3c.1217A>G (p.Lys406Arg)
c.644A>G (p.Lys215Arg)
c.1037A>G (p.Lys346Arg)
c.*1136A>G (n.*1136A>G)
c.1055A>G (p.Lys352Arg)
gnomAD v4
19g.11422761T>GCA404120230ODAD3c.1217A>C (p.Lys406Thr)
c.644A>C (p.Lys215Thr)
c.1037A>C (p.Lys346Thr)
c.*1136A>C (n.*1136A>C)
c.1055A>C (p.Lys352Thr)
19g.11422762T>ACA404120232ODAD3c.1216A>T (p.Lys406Ter)
c.643A>T (p.Lys215Ter)
c.1036A>T (p.Lys346Ter)
c.*1135A>T (n.*1135A>T)
c.1054A>T (p.Lys352Ter)
19g.11422762T>CCA404120233ODAD3c.1216A>G (p.Lys406Glu)
c.643A>G (p.Lys215Glu)
c.1036A>G (p.Lys346Glu)
c.*1135A>G (n.*1135A>G)
c.1054A>G (p.Lys352Glu)
19g.11422762T>GCA404120235ODAD3c.1216A>C (p.Lys406Gln)
c.643A>C (p.Lys215Gln)
c.1036A>C (p.Lys346Gln)
c.*1135A>C (n.*1135A>C)
c.1054A>C (p.Lys352Gln)
19g.11422762_11422765delinsTCTCCA2322925004ODAD3c.1213_1216delinsGAGA (p.Glu405=)
c.640_643delinsGAGA (p.Glu214=)
c.1033_1036delinsGAGA (p.Glu345=)
c.*1132_*1135delinsGAGA (n.*1132_*1135delinsGAGA)
c.1051_1054delinsGAGA (p.Glu351=)
19g.11422763C>ACA404120237ODAD3c.1215G>T (p.Glu405Asp)
c.642G>T (p.Glu214Asp)
c.1035G>T (p.Glu345Asp)
c.*1134G>T (n.*1134G>T)
c.1053G>T (p.Glu351Asp)
dbSNP gnomAD v4
19g.11422763C=CA2322925005ODAD3c.1215G= (p.Glu405=)
c.642G= (p.Glu214=)
c.1035G= (p.Glu345=)
c.*1134G= (n.*1134G=)
c.1053G= (p.Glu351=)
19g.11422763C>GCA404120238ODAD3c.1215G>C (p.Glu405Asp)
c.642G>C (p.Glu214Asp)
c.1035G>C (p.Glu345Asp)
c.*1134G>C (n.*1134G>C)
c.1053G>C (p.Glu351Asp)
19g.11422763C>TCA505749484ODAD3c.1215G>A (p.Glu405=)
c.642G>A (p.Glu214=)
c.1035G>A (p.Glu345=)
c.*1134G>A (n.*1134G>A)
c.1053G>A (p.Glu351=)
gnomAD v4
19g.11422765_11422767delCA9212083ODAD3c.1213_1215del (p.Glu405del)
c.640_642del (p.Glu214del)
c.1033_1035del (p.Glu345del)
c.*1132_*1134del (n.*1132_*1134del)
c.1051_1053del (p.Glu351del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422764T>ACA404120240ODAD3c.1214A>T (p.Glu405Val)
c.641A>T (p.Glu214Val)
c.1034A>T (p.Glu345Val)
c.*1133A>T (n.*1133A>T)
c.1052A>T (p.Glu351Val)
19g.11422764T>CCA404120242ODAD3c.1214A>G (p.Glu405Gly)
c.641A>G (p.Glu214Gly)
c.1034A>G (p.Glu345Gly)
c.*1133A>G (n.*1133A>G)
c.1052A>G (p.Glu351Gly)
dbSNP
19g.11422764T>GCA404120244ODAD3c.1214A>C (p.Glu405Ala)
c.641A>C (p.Glu214Ala)
c.1034A>C (p.Glu345Ala)
c.*1133A>C (n.*1133A>C)
c.1052A>C (p.Glu351Ala)
19g.11422764T=CA2322925006ODAD3c.1214A= (p.Glu405=)
c.641A= (p.Glu214=)
c.1034A= (p.Glu345=)
c.*1133A= (n.*1133A=)
c.1052A= (p.Glu351=)
19g.11422765C>ACA404120246ODAD3c.1213G>T (p.Glu405Ter)
c.640G>T (p.Glu214Ter)
c.1033G>T (p.Glu345Ter)
c.*1132G>T (n.*1132G>T)
c.1051G>T (p.Glu351Ter)
19g.11422765C=CA2322925007ODAD3c.1213G= (p.Glu405=)
c.640G= (p.Glu214=)
c.1033G= (p.Glu345=)
c.*1132G= (n.*1132G=)
c.1051G= (p.Glu351=)
19g.11422765C>GCA404120247ODAD3c.1213G>C (p.Glu405Gln)
c.640G>C (p.Glu214Gln)
c.1033G>C (p.Glu345Gln)
c.*1132G>C (n.*1132G>C)
c.1051G>C (p.Glu351Gln)
19g.11422765C>TCA9212084ODAD3c.1213G>A (p.Glu405Lys)
c.640G>A (p.Glu214Lys)
c.1033G>A (p.Glu345Lys)
c.*1132G>A (n.*1132G>A)
c.1051G>A (p.Glu351Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422766C>ACA404120248ODAD3c.1212G>T (p.Gln404His)
c.639G>T (p.Gln213His)
c.1032G>T (p.Gln344His)
c.*1131G>T (n.*1131G>T)
c.1050G>T (p.Gln350His)
gnomAD v4
19g.11422766C>GCA404120249ODAD3c.1212G>C (p.Gln404His)
c.639G>C (p.Gln213His)
c.1032G>C (p.Gln344His)
c.*1131G>C (n.*1131G>C)
c.1050G>C (p.Gln350His)
19g.11422766C>TCA505749485ODAD3c.1212G>A (p.Gln404=)
c.639G>A (p.Gln213=)
c.1032G>A (p.Gln344=)
c.*1131G>A (n.*1131G>A)
c.1050G>A (p.Gln350=)
19g.11422767T>ACA404120251ODAD3c.1211A>T (p.Gln404Leu)
c.638A>T (p.Gln213Leu)
c.1031A>T (p.Gln344Leu)
c.*1130A>T (n.*1130A>T)
c.1049A>T (p.Gln350Leu)
19g.11422767T>CCA404120253ODAD3c.1211A>G (p.Gln404Arg)
c.638A>G (p.Gln213Arg)
c.1031A>G (p.Gln344Arg)
c.*1130A>G (n.*1130A>G)
c.1049A>G (p.Gln350Arg)
19g.11422767T>GCA404120254ODAD3c.1211A>C (p.Gln404Pro)
c.638A>C (p.Gln213Pro)
c.1031A>C (p.Gln344Pro)
c.*1130A>C (n.*1130A>C)
c.1049A>C (p.Gln350Pro)
19g.11422768G>ACA404120255ODAD3c.1210C>T (p.Gln404Ter)
c.637C>T (p.Gln213Ter)
c.1030C>T (p.Gln344Ter)
c.*1129C>T (n.*1129C>T)
c.1048C>T (p.Gln350Ter)
gnomAD v4
19g.11422768G>CCA404120257ODAD3c.1210C>G (p.Gln404Glu)
c.637C>G (p.Gln213Glu)
c.1030C>G (p.Gln344Glu)
c.*1129C>G (n.*1129C>G)
c.1048C>G (p.Gln350Glu)
19g.11422768G>TCA404120259ODAD3c.1210C>A (p.Gln404Lys)
c.637C>A (p.Gln213Lys)
c.1030C>A (p.Gln344Lys)
c.*1129C>A (n.*1129C>A)
c.1048C>A (p.Gln350Lys)

Number of alleles fetched