Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.112008333_112008337delinsCTTAACA1279571206MERTKc.1868-50_1868-46delinsCTTAA (n.1868-50_1868-46delinsCTTAA)
c.1340-50_1340-46delinsCTTAA (n.1340-50_1340-46delinsCTTAA)
c.*1341-50_*1341-46delinsCTTAA (n.*1341-50_*1341-46delinsCTTAA)
c.833-50_833-46delinsCTTAA (n.833-50_833-46delinsCTTAA)
c.1679-50_1679-46delinsCTTAA (n.1679-50_1679-46delinsCTTAA)
c.653-50_653-46delinsCTTAA (n.653-50_653-46delinsCTTAA)
2g.112008336_112008339delCA1279571208MERTKc.1868-47_1868-44del (n.1868-47_1868-44del)
c.1340-47_1340-44del (n.1340-47_1340-44del)
c.*1341-47_*1341-44del (n.*1341-47_*1341-44del)
c.833-47_833-44del (n.833-47_833-44del)
c.1679-47_1679-44del (n.1679-47_1679-44del)
c.653-47_653-44del (n.653-47_653-44del)
dbSNP gnomAD v4
2g.112008337A=CA1279571209MERTKc.1868-46A= (n.1868-46A=)
c.1340-46A= (n.1340-46A=)
c.*1341-46A= (n.*1341-46A=)
c.833-46A= (n.833-46A=)
c.1679-46A= (n.1679-46A=)
c.653-46A= (n.653-46A=)
2g.112008337A>GCA535186997MERTKc.1868-46A>G (n.1868-46A>G)
c.1340-46A>G (n.1340-46A>G)
c.*1341-46A>G (n.*1341-46A>G)
c.833-46A>G (n.833-46A>G)
c.1679-46A>G (n.1679-46A>G)
c.653-46A>G (n.653-46A>G)
dbSNP gnomAD v2 gnomAD v4
2g.112008338T>CCA755203344MERTKc.1868-45T>C (n.1868-45T>C)
c.1340-45T>C (n.1340-45T>C)
c.*1341-45T>C (n.*1341-45T>C)
c.833-45T>C (n.833-45T>C)
c.1679-45T>C (n.1679-45T>C)
c.653-45T>C (n.653-45T>C)
dbSNP gnomAD v4
2g.112008338T=CA1279571210MERTKc.1868-45T= (n.1868-45T=)
c.1340-45T= (n.1340-45T=)
c.*1341-45T= (n.*1341-45T=)
c.833-45T= (n.833-45T=)
c.1679-45T= (n.1679-45T=)
c.653-45T= (n.653-45T=)
2g.112008340_112008358delCA2751719909MERTKc.1868-43_1868-25del (n.1868-43_1868-25del)
c.1340-43_1340-25del (n.1340-43_1340-25del)
c.*1341-43_*1341-25del (n.*1341-43_*1341-25del)
c.833-43_833-25del (n.833-43_833-25del)
c.1679-43_1679-25del (n.1679-43_1679-25del)
c.653-43_653-25del (n.653-43_653-25del)
2g.112008339T>ACA755203354MERTKc.1868-44T>A (n.1868-44T>A)
c.1340-44T>A (n.1340-44T>A)
c.*1341-44T>A (n.*1341-44T>A)
c.833-44T>A (n.833-44T>A)
c.1679-44T>A (n.1679-44T>A)
c.653-44T>A (n.653-44T>A)
dbSNP gnomAD v4
2g.112008339T=CA1279571211MERTKc.1868-44T= (n.1868-44T=)
c.1340-44T= (n.1340-44T=)
c.*1341-44T= (n.*1341-44T=)
c.833-44T= (n.833-44T=)
c.1679-44T= (n.1679-44T=)
c.653-44T= (n.653-44T=)
2g.112008340G>TCA2660690091MERTKc.1868-43G>T (n.1868-43G>T)
c.1340-43G>T (n.1340-43G>T)
c.*1341-43G>T (n.*1341-43G>T)
c.833-43G>T (n.833-43G>T)
c.1679-43G>T (n.1679-43G>T)
c.653-43G>T (n.653-43G>T)
gnomAD v4
2g.112008341A>GCA2577070604MERTKc.1868-42A>G (n.1868-42A>G)
c.1340-42A>G (n.1340-42A>G)
c.*1341-42A>G (n.*1341-42A>G)
c.833-42A>G (n.833-42A>G)
c.1679-42A>G (n.1679-42A>G)
c.653-42A>G (n.653-42A>G)
2g.112008341A>TCA2577070605MERTKc.1868-42A>T (n.1868-42A>T)
c.1340-42A>T (n.1340-42A>T)
c.*1341-42A>T (n.*1341-42A>T)
c.833-42A>T (n.833-42A>T)
c.1679-42A>T (n.1679-42A>T)
c.653-42A>T (n.653-42A>T)
2g.112008343T>GCA1279571213MERTKc.1868-40T>G (n.1868-40T>G)
c.1340-40T>G (n.1340-40T>G)
c.*1341-40T>G (n.*1341-40T>G)
c.833-40T>G (n.833-40T>G)
c.1679-40T>G (n.1679-40T>G)
c.653-40T>G (n.653-40T>G)
dbSNP
2g.112008343T=CA1279571212MERTKc.1868-40T= (n.1868-40T=)
c.1340-40T= (n.1340-40T=)
c.*1341-40T= (n.*1341-40T=)
c.833-40T= (n.833-40T=)
c.1679-40T= (n.1679-40T=)
c.653-40T= (n.653-40T=)
2g.112008346A=CA1279571214MERTKc.1868-37A= (n.1868-37A=)
c.1340-37A= (n.1340-37A=)
c.*1341-37A= (n.*1341-37A=)
c.833-37A= (n.833-37A=)
c.1679-37A= (n.1679-37A=)
c.653-37A= (n.653-37A=)
2g.112008346A>CCA535186998MERTKc.1868-37A>C (n.1868-37A>C)
c.1340-37A>C (n.1340-37A>C)
c.*1341-37A>C (n.*1341-37A>C)
c.833-37A>C (n.833-37A>C)
c.1679-37A>C (n.1679-37A>C)
c.653-37A>C (n.653-37A>C)
dbSNP gnomAD v2 gnomAD v4
2g.112008346A>GCA2660690092MERTKc.1868-37A>G (n.1868-37A>G)
c.1340-37A>G (n.1340-37A>G)
c.*1341-37A>G (n.*1341-37A>G)
c.833-37A>G (n.833-37A>G)
c.1679-37A>G (n.1679-37A>G)
c.653-37A>G (n.653-37A>G)
gnomAD v4
2g.112008348T>CCA1831572MERTKc.1868-35T>C (n.1868-35T>C)
c.1340-35T>C (n.1340-35T>C)
c.*1341-35T>C (n.*1341-35T>C)
c.833-35T>C (n.833-35T>C)
c.1679-35T>C (n.1679-35T>C)
c.653-35T>C (n.653-35T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008348T=CA1279571215MERTKc.1868-35T= (n.1868-35T=)
c.1340-35T= (n.1340-35T=)
c.*1341-35T= (n.*1341-35T=)
c.833-35T= (n.833-35T=)
c.1679-35T= (n.1679-35T=)
c.653-35T= (n.653-35T=)
2g.112008349A=CA1279571216MERTKc.1868-34A= (n.1868-34A=)
c.1340-34A= (n.1340-34A=)
c.*1341-34A= (n.*1341-34A=)
c.833-34A= (n.833-34A=)
c.1679-34A= (n.1679-34A=)
c.653-34A= (n.653-34A=)
2g.112008349A>GCA2660690093MERTKc.1868-34A>G (n.1868-34A>G)
c.1340-34A>G (n.1340-34A>G)
c.*1341-34A>G (n.*1341-34A>G)
c.833-34A>G (n.833-34A>G)
c.1679-34A>G (n.1679-34A>G)
c.653-34A>G (n.653-34A>G)
gnomAD v4
2g.112008349A>TCA535186999MERTKc.1868-34A>T (n.1868-34A>T)
c.1340-34A>T (n.1340-34A>T)
c.*1341-34A>T (n.*1341-34A>T)
c.833-34A>T (n.833-34A>T)
c.1679-34A>T (n.1679-34A>T)
c.653-34A>T (n.653-34A>T)
dbSNP gnomAD v2 gnomAD v4
2g.112008350T>CCA1831573MERTKc.1868-33T>C (n.1868-33T>C)
c.1340-33T>C (n.1340-33T>C)
c.*1341-33T>C (n.*1341-33T>C)
c.833-33T>C (n.833-33T>C)
c.1679-33T>C (n.1679-33T>C)
c.653-33T>C (n.653-33T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008350T=CA1279571217MERTKc.1868-33T= (n.1868-33T=)
c.1340-33T= (n.1340-33T=)
c.*1341-33T= (n.*1341-33T=)
c.833-33T= (n.833-33T=)
c.1679-33T= (n.1679-33T=)
c.653-33T= (n.653-33T=)
2g.112008351C>ACA2577070606MERTKc.1868-32C>A (n.1868-32C>A)
c.1340-32C>A (n.1340-32C>A)
c.*1341-32C>A (n.*1341-32C>A)
c.833-32C>A (n.833-32C>A)
c.1679-32C>A (n.1679-32C>A)
c.653-32C>A (n.653-32C>A)
gnomAD v4
2g.112008351C>TCA2660690094MERTKc.1868-32C>T (n.1868-32C>T)
c.1340-32C>T (n.1340-32C>T)
c.*1341-32C>T (n.*1341-32C>T)
c.833-32C>T (n.833-32C>T)
c.1679-32C>T (n.1679-32C>T)
c.653-32C>T (n.653-32C>T)
gnomAD v4
2g.112008352C>ACA2660690095MERTKc.1868-31C>A (n.1868-31C>A)
c.1340-31C>A (n.1340-31C>A)
c.*1341-31C>A (n.*1341-31C>A)
c.833-31C>A (n.833-31C>A)
c.1679-31C>A (n.1679-31C>A)
c.653-31C>A (n.653-31C>A)
gnomAD v4
2g.112008353A=CA1279571218MERTKc.1868-30A= (n.1868-30A=)
c.1340-30A= (n.1340-30A=)
c.*1341-30A= (n.*1341-30A=)
c.833-30A= (n.833-30A=)
c.1679-30A= (n.1679-30A=)
c.653-30A= (n.653-30A=)
2g.112008353A>GCA535187000MERTKc.1868-30A>G (n.1868-30A>G)
c.1340-30A>G (n.1340-30A>G)
c.*1341-30A>G (n.*1341-30A>G)
c.833-30A>G (n.833-30A>G)
c.1679-30A>G (n.1679-30A>G)
c.653-30A>G (n.653-30A>G)
dbSNP gnomAD v2 gnomAD v4
2g.112008353A>TCA2660690096MERTKc.1868-30A>T (n.1868-30A>T)
c.1340-30A>T (n.1340-30A>T)
c.*1341-30A>T (n.*1341-30A>T)
c.833-30A>T (n.833-30A>T)
c.1679-30A>T (n.1679-30A>T)
c.653-30A>T (n.653-30A>T)
gnomAD v4
2g.112008354T>CCA2660690097MERTKc.1868-29T>C (n.1868-29T>C)
c.1340-29T>C (n.1340-29T>C)
c.*1341-29T>C (n.*1341-29T>C)
c.833-29T>C (n.833-29T>C)
c.1679-29T>C (n.1679-29T>C)
c.653-29T>C (n.653-29T>C)
gnomAD v4
2g.112008355A>GCA2660690098MERTKc.1868-28A>G (n.1868-28A>G)
c.1340-28A>G (n.1340-28A>G)
c.*1341-28A>G (n.*1341-28A>G)
c.833-28A>G (n.833-28A>G)
c.1679-28A>G (n.1679-28A>G)
c.653-28A>G (n.653-28A>G)
gnomAD v4
2g.112008356C>ACA2660690099MERTKc.1868-27C>A (n.1868-27C>A)
c.1340-27C>A (n.1340-27C>A)
c.*1341-27C>A (n.*1341-27C>A)
c.833-27C>A (n.833-27C>A)
c.1679-27C>A (n.1679-27C>A)
c.653-27C>A (n.653-27C>A)
gnomAD v4
2g.112008356C=CA1279571219MERTKc.1868-27C= (n.1868-27C=)
c.1340-27C= (n.1340-27C=)
c.*1341-27C= (n.*1341-27C=)
c.833-27C= (n.833-27C=)
c.1679-27C= (n.1679-27C=)
c.653-27C= (n.653-27C=)
2g.112008356C>GCA2660690100MERTKc.1868-27C>G (n.1868-27C>G)
c.1340-27C>G (n.1340-27C>G)
c.*1341-27C>G (n.*1341-27C>G)
c.833-27C>G (n.833-27C>G)
c.1679-27C>G (n.1679-27C>G)
c.653-27C>G (n.653-27C>G)
gnomAD v4
2g.112008356C>TCA53582309MERTKc.1868-27C>T (n.1868-27C>T)
c.1340-27C>T (n.1340-27C>T)
c.*1341-27C>T (n.*1341-27C>T)
c.833-27C>T (n.833-27C>T)
c.1679-27C>T (n.1679-27C>T)
c.653-27C>T (n.653-27C>T)
dbSNP gnomAD v4
2g.112008357T>GCA755203369MERTKc.1868-26T>G (n.1868-26T>G)
c.1340-26T>G (n.1340-26T>G)
c.*1341-26T>G (n.*1341-26T>G)
c.833-26T>G (n.833-26T>G)
c.1679-26T>G (n.1679-26T>G)
c.653-26T>G (n.653-26T>G)
dbSNP gnomAD v3 gnomAD v4
2g.112008357T=CA1279571220MERTKc.1868-26T= (n.1868-26T=)
c.1340-26T= (n.1340-26T=)
c.*1341-26T= (n.*1341-26T=)
c.833-26T= (n.833-26T=)
c.1679-26T= (n.1679-26T=)
c.653-26T= (n.653-26T=)
2g.112008359A>TCA2660690101MERTKc.1868-24A>T (n.1868-24A>T)
c.1340-24A>T (n.1340-24A>T)
c.*1341-24A>T (n.*1341-24A>T)
c.833-24A>T (n.833-24A>T)
c.1679-24A>T (n.1679-24A>T)
c.653-24A>T (n.653-24A>T)
gnomAD v4
2g.112008360A>TCA2660690102MERTKc.1868-23A>T (n.1868-23A>T)
c.1340-23A>T (n.1340-23A>T)
c.*1341-23A>T (n.*1341-23A>T)
c.833-23A>T (n.833-23A>T)
c.1679-23A>T (n.1679-23A>T)
c.653-23A>T (n.653-23A>T)
gnomAD v4
2g.112008361C>ACA2660690103MERTKc.1868-22C>A (n.1868-22C>A)
c.1340-22C>A (n.1340-22C>A)
c.*1341-22C>A (n.*1341-22C>A)
c.833-22C>A (n.833-22C>A)
c.1679-22C>A (n.1679-22C>A)
c.653-22C>A (n.653-22C>A)
gnomAD v4
2g.112008362C>ACA1831574MERTKc.1868-21C>A (n.1868-21C>A)
c.1340-21C>A (n.1340-21C>A)
c.*1341-21C>A (n.*1341-21C>A)
c.833-21C>A (n.833-21C>A)
c.1679-21C>A (n.1679-21C>A)
c.653-21C>A (n.653-21C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008362C=CA1279571221MERTKc.1868-21C= (n.1868-21C=)
c.1340-21C= (n.1340-21C=)
c.*1341-21C= (n.*1341-21C=)
c.833-21C= (n.833-21C=)
c.1679-21C= (n.1679-21C=)
c.653-21C= (n.653-21C=)
2g.112008362C>GCA2660690104MERTKc.1868-21C>G (n.1868-21C>G)
c.1340-21C>G (n.1340-21C>G)
c.*1341-21C>G (n.*1341-21C>G)
c.833-21C>G (n.833-21C>G)
c.1679-21C>G (n.1679-21C>G)
c.653-21C>G (n.653-21C>G)
gnomAD v4
2g.112008362C>TCA535187001MERTKc.1868-21C>T (n.1868-21C>T)
c.1340-21C>T (n.1340-21C>T)
c.*1341-21C>T (n.*1341-21C>T)
c.833-21C>T (n.833-21C>T)
c.1679-21C>T (n.1679-21C>T)
c.653-21C>T (n.653-21C>T)
dbSNP gnomAD v2 gnomAD v4
2g.112008366delCA2660690105MERTKc.1868-17del (n.1868-17del)
c.1340-17del (n.1340-17del)
c.*1341-17del (n.*1341-17del)
c.833-17del (n.833-17del)
c.1679-17del (n.1679-17del)
c.653-17del (n.653-17del)
gnomAD v4
2g.112008369_112008375dupCA535187002MERTKc.1868-14_1868-8dup (n.1868-14_1868-8dup)
c.1340-14_1340-8dup (n.1340-14_1340-8dup)
c.*1341-14_*1341-8dup (n.*1341-14_*1341-8dup)
c.833-14_833-8dup (n.833-14_833-8dup)
c.1679-14_1679-8dup (n.1679-14_1679-8dup)
c.653-14_653-8dup (n.653-14_653-8dup)
dbSNP gnomAD v2 gnomAD v4
2g.112008364T>ACA2660690106MERTKc.1868-19T>A (n.1868-19T>A)
c.1340-19T>A (n.1340-19T>A)
c.*1341-19T>A (n.*1341-19T>A)
c.833-19T>A (n.833-19T>A)
c.1679-19T>A (n.1679-19T>A)
c.653-19T>A (n.653-19T>A)
gnomAD v4
2g.112008365T>CCA1831575MERTKc.1868-18T>C (n.1868-18T>C)
c.1340-18T>C (n.1340-18T>C)
c.*1341-18T>C (n.*1341-18T>C)
c.833-18T>C (n.833-18T>C)
c.1679-18T>C (n.1679-18T>C)
c.653-18T>C (n.653-18T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008365T=CA1279571222MERTKc.1868-18T= (n.1868-18T=)
c.1340-18T= (n.1340-18T=)
c.*1341-18T= (n.*1341-18T=)
c.833-18T= (n.833-18T=)
c.1679-18T= (n.1679-18T=)
c.653-18T= (n.653-18T=)
2g.112008366T>CCA2700183490MERTKc.1868-17T>C (n.1868-17T>C)
c.1340-17T>C (n.1340-17T>C)
c.*1341-17T>C (n.*1341-17T>C)
c.833-17T>C (n.833-17T>C)
c.1679-17T>C (n.1679-17T>C)
c.653-17T>C (n.653-17T>C)
dbSNP
2g.112008367C>ACA2523887056MERTKc.1868-16C>A (n.1868-16C>A)
c.1340-16C>A (n.1340-16C>A)
c.*1341-16C>A (n.*1341-16C>A)
c.833-16C>A (n.833-16C>A)
c.1679-16C>A (n.1679-16C>A)
c.653-16C>A (n.653-16C>A)
ClinVar dbSNP
2g.112008367C>TCA2660690107MERTKc.1868-16C>T (n.1868-16C>T)
c.1340-16C>T (n.1340-16C>T)
c.*1341-16C>T (n.*1341-16C>T)
c.833-16C>T (n.833-16C>T)
c.1679-16C>T (n.1679-16C>T)
c.653-16C>T (n.653-16C>T)
gnomAD v4
2g.112008369A=CA1279571223MERTKc.1868-14A= (n.1868-14A=)
c.1340-14A= (n.1340-14A=)
c.*1341-14A= (n.*1341-14A=)
c.833-14A= (n.833-14A=)
c.1679-14A= (n.1679-14A=)
c.653-14A= (n.653-14A=)
2g.112008369A>GCA1831576MERTKc.1868-14A>G (n.1868-14A>G)
c.1340-14A>G (n.1340-14A>G)
c.*1341-14A>G (n.*1341-14A>G)
c.833-14A>G (n.833-14A>G)
c.1679-14A>G (n.1679-14A>G)
c.653-14A>G (n.653-14A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008370T>GCA1831577MERTKc.1868-13T>G (n.1868-13T>G)
c.1340-13T>G (n.1340-13T>G)
c.*1341-13T>G (n.*1341-13T>G)
c.833-13T>G (n.833-13T>G)
c.1679-13T>G (n.1679-13T>G)
c.653-13T>G (n.653-13T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008370T=CA1279571224MERTKc.1868-13T= (n.1868-13T=)
c.1340-13T= (n.1340-13T=)
c.*1341-13T= (n.*1341-13T=)
c.833-13T= (n.833-13T=)
c.1679-13T= (n.1679-13T=)
c.653-13T= (n.653-13T=)
2g.112008374C>ACA1279571226MERTKc.1868-9C>A (n.1868-9C>A)
c.1340-9C>A (n.1340-9C>A)
c.*1341-9C>A (n.*1341-9C>A)
c.833-9C>A (n.833-9C>A)
c.1679-9C>A (n.1679-9C>A)
c.653-9C>A (n.653-9C>A)
dbSNP gnomAD v4
2g.112008374C=CA1279571225MERTKc.1868-9C= (n.1868-9C=)
c.1340-9C= (n.1340-9C=)
c.*1341-9C= (n.*1341-9C=)
c.833-9C= (n.833-9C=)
c.1679-9C= (n.1679-9C=)
c.653-9C= (n.653-9C=)
2g.112008376C=CA1279571227MERTKc.1868-7C= (n.1868-7C=)
c.1340-7C= (n.1340-7C=)
c.*1341-7C= (n.*1341-7C=)
c.833-7C= (n.833-7C=)
c.1679-7C= (n.1679-7C=)
c.653-7C= (n.653-7C=)
2g.112008376C>TCA535187003MERTKc.1868-7C>T (n.1868-7C>T)
c.1340-7C>T (n.1340-7C>T)
c.*1341-7C>T (n.*1341-7C>T)
c.833-7C>T (n.833-7C>T)
c.1679-7C>T (n.1679-7C>T)
c.653-7C>T (n.653-7C>T)
dbSNP gnomAD v2 gnomAD v4
2g.112008377C>ACA2660690108MERTKc.1868-6C>A (n.1868-6C>A)
c.1340-6C>A (n.1340-6C>A)
c.*1341-6C>A (n.*1341-6C>A)
c.833-6C>A (n.833-6C>A)
c.1679-6C>A (n.1679-6C>A)
c.653-6C>A (n.653-6C>A)
gnomAD v4
2g.112008377C>TCA2660690109MERTKc.1868-6C>T (n.1868-6C>T)
c.1340-6C>T (n.1340-6C>T)
c.*1341-6C>T (n.*1341-6C>T)
c.833-6C>T (n.833-6C>T)
c.1679-6C>T (n.1679-6C>T)
c.653-6C>T (n.653-6C>T)
gnomAD v4
2g.112008379C>TCA2700183544MERTKc.1868-4C>T (n.1868-4C>T)
c.1340-4C>T (n.1340-4C>T)
c.*1341-4C>T (n.*1341-4C>T)
c.833-4C>T (n.833-4C>T)
c.1679-4C>T (n.1679-4C>T)
c.653-4C>T (n.653-4C>T)
dbSNP
2g.112008380T>CCA2660690110MERTKc.1868-3T>C (n.1868-3T>C)
c.1340-3T>C (n.1340-3T>C)
c.*1341-3T>C (n.*1341-3T>C)
c.833-3T>C (n.833-3T>C)
c.1679-3T>C (n.1679-3T>C)
c.653-3T>C (n.653-3T>C)
gnomAD v4
2g.112008381A>CCA348233042MERTKc.1868-2A>C (n.1868-2A>C)
c.1340-2A>C (n.1340-2A>C)
c.*1341-2A>C (n.*1341-2A>C)
c.833-2A>C (n.833-2A>C)
c.1679-2A>C (n.1679-2A>C)
c.653-2A>C (n.653-2A>C)
2g.112008381A>GCA348233044MERTKc.1868-2A>G (n.1868-2A>G)
c.1340-2A>G (n.1340-2A>G)
c.*1341-2A>G (n.*1341-2A>G)
c.833-2A>G (n.833-2A>G)
c.1679-2A>G (n.1679-2A>G)
c.653-2A>G (n.653-2A>G)
2g.112008381A>TCA348233046MERTKc.1868-2A>T (n.1868-2A>T)
c.1340-2A>T (n.1340-2A>T)
c.*1341-2A>T (n.*1341-2A>T)
c.833-2A>T (n.833-2A>T)
c.1679-2A>T (n.1679-2A>T)
c.653-2A>T (n.653-2A>T)
2g.112008382G>ACA348233050MERTKc.1868-1G>A (n.1868-1G>A)
c.1340-1G>A (n.1340-1G>A)
c.*1341-1G>A (n.*1341-1G>A)
c.833-1G>A (n.833-1G>A)
c.1679-1G>A (n.1679-1G>A)
c.653-1G>A (n.653-1G>A)
ClinVar dbSNP gnomAD v4
2g.112008382G>CCA348233052MERTKc.1868-1G>C (n.1868-1G>C)
c.1340-1G>C (n.1340-1G>C)
c.*1341-1G>C (n.*1341-1G>C)
c.833-1G>C (n.833-1G>C)
c.1679-1G>C (n.1679-1G>C)
c.653-1G>C (n.653-1G>C)
2g.112008382G>TCA348233054MERTKc.1868-1G>T (n.1868-1G>T)
c.1340-1G>T (n.1340-1G>T)
c.*1341-1G>T (n.*1341-1G>T)
c.833-1G>T (n.833-1G>T)
c.1679-1G>T (n.1679-1G>T)
c.653-1G>T (n.653-1G>T)
2g.112008383T>ACA348233056MERTKc.1868T>A (p.Leu623Ter)
c.1340T>A (p.Leu447Ter)
c.*1341T>A (n.*1341T>A)
c.833T>A (p.Leu278Ter)
c.1679T>A (p.Leu560Ter)
c.653T>A (p.Leu218Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008383T>CCA1831578MERTKc.1868T>C (p.Leu623Ser)
c.1340T>C (p.Leu447Ser)
c.*1341T>C (n.*1341T>C)
c.833T>C (p.Leu278Ser)
c.1679T>C (p.Leu560Ser)
c.653T>C (p.Leu218Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008383T>GCA348233058MERTKc.1868T>G (p.Leu623Trp)
c.1340T>G (p.Leu447Trp)
c.*1341T>G (n.*1341T>G)
c.833T>G (p.Leu278Trp)
c.1679T>G (p.Leu560Trp)
c.653T>G (p.Leu218Trp)
2g.112008383T=CA1279571228MERTKc.1868T= (p.Leu623=)
c.1340T= (p.Leu447=)
c.*1341T= (n.*1341T=)
c.833T= (p.Leu278=)
c.1679T= (p.Leu560=)
c.653T= (p.Leu218=)
2g.112008384G>ACA428275200MERTKc.1869G>A (p.Leu623=)
c.1341G>A (p.Leu447=)
c.*1342G>A (n.*1342G>A)
c.834G>A (p.Leu278=)
c.1680G>A (p.Leu560=)
c.654G>A (p.Leu218=)
gnomAD v4
2g.112008384G>CCA348233061MERTKc.1869G>C (p.Leu623Phe)
c.1341G>C (p.Leu447Phe)
c.*1342G>C (n.*1342G>C)
c.834G>C (p.Leu278Phe)
c.1680G>C (p.Leu560Phe)
c.654G>C (p.Leu218Phe)
2g.112008384G>TCA348233062MERTKc.1869G>T (p.Leu623Phe)
c.1341G>T (p.Leu447Phe)
c.*1342G>T (n.*1342G>T)
c.834G>T (p.Leu278Phe)
c.1680G>T (p.Leu560Phe)
c.654G>T (p.Leu218Phe)
2g.112008385delCA2577070607MERTKc.1870del (p.Asp624ThrfsTer18)
c.1342del (p.Asp448ThrfsTer18)
c.*1343del (n.*1343del)
c.835del (p.Asp279ThrfsTer18)
c.1681del (p.Asp561ThrfsTer18)
c.655del (p.Asp219ThrfsTer18)
gnomAD v4
2g.112008385G>ACA348233064MERTKc.1870G>A (p.Asp624Asn)
c.1342G>A (p.Asp448Asn)
c.*1343G>A (n.*1343G>A)
c.835G>A (p.Asp279Asn)
c.1681G>A (p.Asp561Asn)
c.655G>A (p.Asp219Asn)
2g.112008385G>CCA348233065MERTKc.1870G>C (p.Asp624His)
c.1342G>C (p.Asp448His)
c.*1343G>C (n.*1343G>C)
c.835G>C (p.Asp279His)
c.1681G>C (p.Asp561His)
c.655G>C (p.Asp219His)
ClinVar dbSNP gnomAD v4
2g.112008385G=CA1279571229MERTKc.1870G= (p.Asp624=)
c.1342G= (p.Asp448=)
c.*1343G= (n.*1343G=)
c.835G= (p.Asp279=)
c.1681G= (p.Asp561=)
c.655G= (p.Asp219=)
2g.112008385G>TCA348233067MERTKc.1870G>T (p.Asp624Tyr)
c.1342G>T (p.Asp448Tyr)
c.*1343G>T (n.*1343G>T)
c.835G>T (p.Asp279Tyr)
c.1681G>T (p.Asp561Tyr)
c.655G>T (p.Asp219Tyr)
2g.112008386A>CCA348233070MERTKc.1871A>C (p.Asp624Ala)
c.1343A>C (p.Asp448Ala)
c.*1344A>C (n.*1344A>C)
c.836A>C (p.Asp279Ala)
c.1682A>C (p.Asp561Ala)
c.656A>C (p.Asp219Ala)
2g.112008386A>GCA348233071MERTKc.1871A>G (p.Asp624Gly)
c.1343A>G (p.Asp448Gly)
c.*1344A>G (n.*1344A>G)
c.836A>G (p.Asp279Gly)
c.1682A>G (p.Asp561Gly)
c.656A>G (p.Asp219Gly)
gnomAD v4
2g.112008386A>TCA348233073MERTKc.1871A>T (p.Asp624Val)
c.1343A>T (p.Asp448Val)
c.*1344A>T (n.*1344A>T)
c.836A>T (p.Asp279Val)
c.1682A>T (p.Asp561Val)
c.656A>T (p.Asp219Val)
2g.112008387C>ACA348233075MERTKc.1872C>A (p.Asp624Glu)
c.1344C>A (p.Asp448Glu)
c.*1345C>A (n.*1345C>A)
c.837C>A (p.Asp279Glu)
c.1683C>A (p.Asp561Glu)
c.657C>A (p.Asp219Glu)
2g.112008387C=CA1279571230MERTKc.1872C= (p.Asp624=)
c.1344C= (p.Asp448=)
c.*1345C= (n.*1345C=)
c.837C= (p.Asp279=)
c.1683C= (p.Asp561=)
c.657C= (p.Asp219=)
2g.112008387C>GCA1831579MERTKc.1872C>G (p.Asp624Glu)
c.1344C>G (p.Asp448Glu)
c.*1345C>G (n.*1345C>G)
c.837C>G (p.Asp279Glu)
c.1683C>G (p.Asp561Glu)
c.657C>G (p.Asp219Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008387C>TCA428275202MERTKc.1872C>T (p.Asp624=)
c.1344C>T (p.Asp448=)
c.*1345C>T (n.*1345C>T)
c.837C>T (p.Asp279=)
c.1683C>T (p.Asp561=)
c.657C>T (p.Asp219=)
2g.112008387dupCA2660690111MERTKc.1872dup (p.Asn625GlnfsTer13)
c.1344dup (p.Asn449GlnfsTer13)
c.*1345dup (n.*1345dup)
c.837dup (p.Asn280GlnfsTer13)
c.1683dup (p.Asn562GlnfsTer13)
c.657dup (p.Asn220GlnfsTer13)
gnomAD v4
2g.112008388A>CCA348233077MERTKc.1873A>C (p.Asn625His)
c.1345A>C (p.Asn449His)
c.*1346A>C (n.*1346A>C)
c.838A>C (p.Asn280His)
c.1684A>C (p.Asn562His)
c.658A>C (p.Asn220His)
2g.112008388A>GCA348233078MERTKc.1873A>G (p.Asn625Asp)
c.1345A>G (p.Asn449Asp)
c.*1346A>G (n.*1346A>G)
c.838A>G (p.Asn280Asp)
c.1684A>G (p.Asn562Asp)
c.658A>G (p.Asn220Asp)
2g.112008388A>TCA348233079MERTKc.1873A>T (p.Asn625Tyr)
c.1345A>T (p.Asn449Tyr)
c.*1346A>T (n.*1346A>T)
c.838A>T (p.Asn280Tyr)
c.1684A>T (p.Asn562Tyr)
c.658A>T (p.Asn220Tyr)
2g.112008389A=CA1279571231MERTKc.1874A= (p.Asn625=)
c.1346A= (p.Asn449=)
c.*1347A= (n.*1347A=)
c.839A= (p.Asn280=)
c.1685A= (p.Asn562=)
c.659A= (p.Asn220=)
2g.112008389A>CCA1831581MERTKc.1874A>C (p.Asn625Thr)
c.1346A>C (p.Asn449Thr)
c.*1347A>C (n.*1347A>C)
c.839A>C (p.Asn280Thr)
c.1685A>C (p.Asn562Thr)
c.659A>C (p.Asn220Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008389A>GCA1831580MERTKc.1874A>G (p.Asn625Ser)
c.1346A>G (p.Asn449Ser)
c.*1347A>G (n.*1347A>G)
c.839A>G (p.Asn280Ser)
c.1685A>G (p.Asn562Ser)
c.659A>G (p.Asn220Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008389A>TCA348233081MERTKc.1874A>T (p.Asn625Ile)
c.1346A>T (p.Asn449Ile)
c.*1347A>T (n.*1347A>T)
c.839A>T (p.Asn280Ile)
c.1685A>T (p.Asn562Ile)
c.659A>T (p.Asn220Ile)
2g.112008390C>ACA348233084MERTKc.1875C>A (p.Asn625Lys)
c.1347C>A (p.Asn449Lys)
c.*1348C>A (n.*1348C>A)
c.840C>A (p.Asn280Lys)
c.1686C>A (p.Asn562Lys)
c.660C>A (p.Asn220Lys)
2g.112008390C>GCA348233087MERTKc.1875C>G (p.Asn625Lys)
c.1347C>G (p.Asn449Lys)
c.*1348C>G (n.*1348C>G)
c.840C>G (p.Asn280Lys)
c.1686C>G (p.Asn562Lys)
c.660C>G (p.Asn220Lys)
2g.112008390C>TCA428275203MERTKc.1875C>T (p.Asn625=)
c.1347C>T (p.Asn449=)
c.*1348C>T (n.*1348C>T)
c.840C>T (p.Asn280=)
c.1686C>T (p.Asn562=)
c.660C>T (p.Asn220=)
2g.112008391T>ACA348233094MERTKc.1876T>A (p.Ser626Thr)
c.1348T>A (p.Ser450Thr)
c.*1349T>A (n.*1349T>A)
c.841T>A (p.Ser281Thr)
c.1687T>A (p.Ser563Thr)
c.661T>A (p.Ser221Thr)
2g.112008391T>CCA348233095MERTKc.1876T>C (p.Ser626Pro)
c.1348T>C (p.Ser450Pro)
c.*1349T>C (n.*1349T>C)
c.841T>C (p.Ser281Pro)
c.1687T>C (p.Ser563Pro)
c.661T>C (p.Ser221Pro)
2g.112008391T>GCA348233097MERTKc.1876T>G (p.Ser626Ala)
c.1348T>G (p.Ser450Ala)
c.*1349T>G (n.*1349T>G)
c.841T>G (p.Ser281Ala)
c.1687T>G (p.Ser563Ala)
c.661T>G (p.Ser221Ala)
2g.112008392C>ACA348233098MERTKc.1877C>A (p.Ser626Tyr)
c.1349C>A (p.Ser450Tyr)
c.*1350C>A (n.*1350C>A)
c.842C>A (p.Ser281Tyr)
c.1688C>A (p.Ser563Tyr)
c.662C>A (p.Ser221Tyr)
2g.112008392C=CA1279571232MERTKc.1877C= (p.Ser626=)
c.1349C= (p.Ser450=)
c.*1350C= (n.*1350C=)
c.842C= (p.Ser281=)
c.1688C= (p.Ser563=)
c.662C= (p.Ser221=)
2g.112008392C>GCA348233099MERTKc.1877C>G (p.Ser626Cys)
c.1349C>G (p.Ser450Cys)
c.*1350C>G (n.*1350C>G)
c.842C>G (p.Ser281Cys)
c.1688C>G (p.Ser563Cys)
c.662C>G (p.Ser221Cys)
dbSNP COSMIC
2g.112008392C>TCA348233101MERTKc.1877C>T (p.Ser626Phe)
c.1349C>T (p.Ser450Phe)
c.*1350C>T (n.*1350C>T)
c.842C>T (p.Ser281Phe)
c.1688C>T (p.Ser563Phe)
c.662C>T (p.Ser221Phe)
dbSNP gnomAD v4
2g.112008393T>ACA428275204MERTKc.1878T>A (p.Ser626=)
c.1350T>A (p.Ser450=)
c.*1351T>A (n.*1351T>A)
c.843T>A (p.Ser281=)
c.1689T>A (p.Ser563=)
c.663T>A (p.Ser221=)
2g.112008393T>CCA428275205MERTKc.1878T>C (p.Ser626=)
c.1350T>C (p.Ser450=)
c.*1351T>C (n.*1351T>C)
c.843T>C (p.Ser281=)
c.1689T>C (p.Ser563=)
c.663T>C (p.Ser221=)
2g.112008393T>GCA428275206MERTKc.1878T>G (p.Ser626=)
c.1350T>G (p.Ser450=)
c.*1351T>G (n.*1351T>G)
c.843T>G (p.Ser281=)
c.1689T>G (p.Ser563=)
c.663T>G (p.Ser221=)
2g.112008394T>ACA348233103MERTKc.1879T>A (p.Ser627Thr)
c.1351T>A (p.Ser451Thr)
c.*1352T>A (n.*1352T>A)
c.844T>A (p.Ser282Thr)
c.1690T>A (p.Ser564Thr)
c.664T>A (p.Ser222Thr)
2g.112008394T>CCA348233105MERTKc.1879T>C (p.Ser627Pro)
c.1351T>C (p.Ser451Pro)
c.*1352T>C (n.*1352T>C)
c.844T>C (p.Ser282Pro)
c.1690T>C (p.Ser564Pro)
c.664T>C (p.Ser222Pro)
2g.112008394T>GCA348233106MERTKc.1879T>G (p.Ser627Ala)
c.1351T>G (p.Ser451Ala)
c.*1352T>G (n.*1352T>G)
c.844T>G (p.Ser282Ala)
c.1690T>G (p.Ser564Ala)
c.664T>G (p.Ser222Ala)
2g.112008395C>ACA1831583MERTKc.1880C>A (p.Ser627Ter)
c.1352C>A (p.Ser451Ter)
c.*1353C>A (n.*1353C>A)
c.845C>A (p.Ser282Ter)
c.1691C>A (p.Ser564Ter)
c.665C>A (p.Ser222Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008395C=CA1279571233MERTKc.1880C= (p.Ser627=)
c.1352C= (p.Ser451=)
c.*1353C= (n.*1353C=)
c.845C= (p.Ser282=)
c.1691C= (p.Ser564=)
c.665C= (p.Ser222=)
2g.112008395C>GCA348233111MERTKc.1880C>G (p.Ser627Ter)
c.1352C>G (p.Ser451Ter)
c.*1353C>G (n.*1353C>G)
c.845C>G (p.Ser282Ter)
c.1691C>G (p.Ser564Ter)
c.665C>G (p.Ser222Ter)
2g.112008395C>TCA1831582MERTKc.1880C>T (p.Ser627Leu)
c.1352C>T (p.Ser451Leu)
c.*1353C>T (n.*1353C>T)
c.845C>T (p.Ser282Leu)
c.1691C>T (p.Ser564Leu)
c.665C>T (p.Ser222Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.112008395_112008396delinsTGCA2580063748MERTKc.1880_1881delinsTG (p.Ser627Leu)
c.1352_1353delinsTG (p.Ser451Leu)
c.*1353_*1354delinsTG (n.*1353_*1354delinsTG)
c.845_846delinsTG (p.Ser282Leu)
c.1691_1692delinsTG (p.Ser564Leu)
c.665_666delinsTG (p.Ser222Leu)
ClinVar
2g.112008396A=CA1279571234MERTKc.1881A= (p.Ser627=)
c.1353A= (p.Ser451=)
c.*1354A= (n.*1354A=)
c.846A= (p.Ser282=)
c.1692A= (p.Ser564=)
c.666A= (p.Ser222=)
2g.112008396A>CCA428275207MERTKc.1881A>C (p.Ser627=)
c.1353A>C (p.Ser451=)
c.*1354A>C (n.*1354A>C)
c.846A>C (p.Ser282=)
c.1692A>C (p.Ser564=)
c.666A>C (p.Ser222=)
gnomAD v4
2g.112008396A>GCA1831584MERTKc.1881A>G (p.Ser627=)
c.1353A>G (p.Ser451=)
c.*1354A>G (n.*1354A>G)
c.846A>G (p.Ser282=)
c.1692A>G (p.Ser564=)
c.666A>G (p.Ser222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008396A>TCA428275208MERTKc.1881A>T (p.Ser627=)
c.1353A>T (p.Ser451=)
c.*1354A>T (n.*1354A>T)
c.846A>T (p.Ser282=)
c.1692A>T (p.Ser564=)
c.666A>T (p.Ser222=)
dbSNP
2g.112008397C>ACA348233117MERTKc.1882C>A (p.Gln628Lys)
c.1354C>A (p.Gln452Lys)
c.*1355C>A (n.*1355C>A)
c.847C>A (p.Gln283Lys)
c.1693C>A (p.Gln565Lys)
c.667C>A (p.Gln223Lys)
2g.112008397C>GCA348233114MERTKc.1882C>G (p.Gln628Glu)
c.1354C>G (p.Gln452Glu)
c.*1355C>G (n.*1355C>G)
c.847C>G (p.Gln283Glu)
c.1693C>G (p.Gln565Glu)
c.667C>G (p.Gln223Glu)
2g.112008397C>TCA348233116MERTKc.1882C>T (p.Gln628Ter)
c.1354C>T (p.Gln452Ter)
c.*1355C>T (n.*1355C>T)
c.847C>T (p.Gln283Ter)
c.1693C>T (p.Gln565Ter)
c.667C>T (p.Gln223Ter)
2g.112008398A>CCA348233118MERTKc.1883A>C (p.Gln628Pro)
c.1355A>C (p.Gln452Pro)
c.*1356A>C (n.*1356A>C)
c.848A>C (p.Gln283Pro)
c.1694A>C (p.Gln565Pro)
c.668A>C (p.Gln223Pro)
2g.112008398A>GCA348233120MERTKc.1883A>G (p.Gln628Arg)
c.1355A>G (p.Gln452Arg)
c.*1356A>G (n.*1356A>G)
c.848A>G (p.Gln283Arg)
c.1694A>G (p.Gln565Arg)
c.668A>G (p.Gln223Arg)
2g.112008398A>TCA348233121MERTKc.1883A>T (p.Gln628Leu)
c.1355A>T (p.Gln452Leu)
c.*1356A>T (n.*1356A>T)
c.848A>T (p.Gln283Leu)
c.1694A>T (p.Gln565Leu)
c.668A>T (p.Gln223Leu)
2g.112008399G>ACA428275209MERTKc.1884G>A (p.Gln628=)
c.1356G>A (p.Gln452=)
c.*1357G>A (n.*1357G>A)
c.849G>A (p.Gln283=)
c.1695G>A (p.Gln565=)
c.669G>A (p.Gln223=)
gnomAD v4
2g.112008399G>CCA348233122MERTKc.1884G>C (p.Gln628His)
c.1356G>C (p.Gln452His)
c.*1357G>C (n.*1357G>C)
c.849G>C (p.Gln283His)
c.1695G>C (p.Gln565His)
c.669G>C (p.Gln223His)
2g.112008399G>TCA348233123MERTKc.1884G>T (p.Gln628His)
c.1356G>T (p.Gln452His)
c.*1357G>T (n.*1357G>T)
c.849G>T (p.Gln283His)
c.1695G>T (p.Gln565His)
c.669G>T (p.Gln223His)
2g.112008400C>ACA428275210MERTKc.1885C>A (p.Arg629=)
c.1357C>A (p.Arg453=)
c.*1358C>A (n.*1358C>A)
c.850C>A (p.Arg284=)
c.1696C>A (p.Arg566=)
c.670C>A (p.Arg224=)
gnomAD v2
2g.112008400C=CA1279571235MERTKc.1885C= (p.Arg629=)
c.1357C= (p.Arg453=)
c.*1358C= (n.*1358C=)
c.850C= (p.Arg284=)
c.1696C= (p.Arg566=)
c.670C= (p.Arg224=)
2g.112008400C>GCA348233125MERTKc.1885C>G (p.Arg629Gly)
c.1357C>G (p.Arg453Gly)
c.*1358C>G (n.*1358C>G)
c.850C>G (p.Arg284Gly)
c.1696C>G (p.Arg566Gly)
c.670C>G (p.Arg224Gly)
2g.112008400C>TCA1831585MERTKc.1885C>T (p.Arg629Trp)
c.1357C>T (p.Arg453Trp)
c.*1358C>T (n.*1358C>T)
c.850C>T (p.Arg284Trp)
c.1696C>T (p.Arg566Trp)
c.670C>T (p.Arg224Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008400_112008401delinsCGCA1279571236MERTKc.1885_1886delinsCG (p.Arg629=)
c.1357_1358delinsCG (p.Arg453=)
c.*1358_*1359delinsCG (n.*1358_*1359delinsCG)
c.850_851delinsCG (p.Arg284=)
c.1696_1697delinsCG (p.Arg566=)
c.670_671delinsCG (p.Arg224=)
2g.112008401G>ACA348233127MERTKc.1886G>A (p.Arg629Gln)
c.1358G>A (p.Arg453Gln)
c.*1359G>A (n.*1359G>A)
c.851G>A (p.Arg284Gln)
c.1697G>A (p.Arg566Gln)
c.671G>A (p.Arg224Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008401G>CCA348233129MERTKc.1886G>C (p.Arg629Pro)
c.1358G>C (p.Arg453Pro)
c.*1359G>C (n.*1359G>C)
c.851G>C (p.Arg284Pro)
c.1697G>C (p.Arg566Pro)
c.671G>C (p.Arg224Pro)
2g.112008401G=CA1279571237MERTKc.1886G= (p.Arg629=)
c.1358G= (p.Arg453=)
c.*1359G= (n.*1359G=)
c.851G= (p.Arg284=)
c.1697G= (p.Arg566=)
c.671G= (p.Arg224=)
2g.112008401G>TCA348233131MERTKc.1886G>T (p.Arg629Leu)
c.1358G>T (p.Arg453Leu)
c.*1359G>T (n.*1359G>T)
c.851G>T (p.Arg284Leu)
c.1697G>T (p.Arg566Leu)
c.671G>T (p.Arg224Leu)
COSMIC COSMIC
2g.112008403delCA535187004MERTKc.1888del (p.Glu630ArgfsTer12)
c.1360del (p.Glu454ArgfsTer12)
c.*1361del (n.*1361del)
c.853del (p.Glu285ArgfsTer12)
c.1699del (p.Glu567ArgfsTer12)
c.673del (p.Glu225ArgfsTer12)
dbSNP gnomAD v2 gnomAD v4
2g.112008402G>ACA428275213MERTKc.1887G>A (p.Arg629=)
c.1359G>A (p.Arg453=)
c.*1360G>A (n.*1360G>A)
c.852G>A (p.Arg284=)
c.1698G>A (p.Arg566=)
c.672G>A (p.Arg224=)
2g.112008402G>CCA428275211MERTKc.1887G>C (p.Arg629=)
c.1359G>C (p.Arg453=)
c.*1360G>C (n.*1360G>C)
c.852G>C (p.Arg284=)
c.1698G>C (p.Arg566=)
c.672G>C (p.Arg224=)
dbSNP gnomAD v2 gnomAD v4
2g.112008402G=CA1279571238MERTKc.1887G= (p.Arg629=)
c.1359G= (p.Arg453=)
c.*1360G= (n.*1360G=)
c.852G= (p.Arg284=)
c.1698G= (p.Arg566=)
c.672G= (p.Arg224=)
2g.112008402G>TCA428275212MERTKc.1887G>T (p.Arg629=)
c.1359G>T (p.Arg453=)
c.*1360G>T (n.*1360G>T)
c.852G>T (p.Arg284=)
c.1698G>T (p.Arg566=)
c.672G>T (p.Arg224=)
gnomAD v4
2g.112008403G>ACA348233133MERTKc.1888G>A (p.Glu630Lys)
c.1360G>A (p.Glu454Lys)
c.*1361G>A (n.*1361G>A)
c.853G>A (p.Glu285Lys)
c.1699G>A (p.Glu567Lys)
c.673G>A (p.Glu225Lys)
gnomAD v4
2g.112008403G>CCA348233134MERTKc.1888G>C (p.Glu630Gln)
c.1360G>C (p.Glu454Gln)
c.*1361G>C (n.*1361G>C)
c.853G>C (p.Glu285Gln)
c.1699G>C (p.Glu567Gln)
c.673G>C (p.Glu225Gln)
2g.112008403G>TCA348233135MERTKc.1888G>T (p.Glu630Ter)
c.1360G>T (p.Glu454Ter)
c.*1361G>T (n.*1361G>T)
c.853G>T (p.Glu285Ter)
c.1699G>T (p.Glu567Ter)
c.673G>T (p.Glu225Ter)
2g.112008404A=CA1279571239MERTKc.1889A= (p.Glu630=)
c.1361A= (p.Glu454=)
c.*1362A= (n.*1362A=)
c.854A= (p.Glu285=)
c.1700A= (p.Glu567=)
c.674A= (p.Glu225=)
2g.112008404A>CCA348233141MERTKc.1889A>C (p.Glu630Ala)
c.1361A>C (p.Glu454Ala)
c.*1362A>C (n.*1362A>C)
c.854A>C (p.Glu285Ala)
c.1700A>C (p.Glu567Ala)
c.674A>C (p.Glu225Ala)
2g.112008404A>GCA348233138MERTKc.1889A>G (p.Glu630Gly)
c.1361A>G (p.Glu454Gly)
c.*1362A>G (n.*1362A>G)
c.854A>G (p.Glu285Gly)
c.1700A>G (p.Glu567Gly)
c.674A>G (p.Glu225Gly)
2g.112008404A>TCA348233139MERTKc.1889A>T (p.Glu630Val)
c.1361A>T (p.Glu454Val)
c.*1362A>T (n.*1362A>T)
c.854A>T (p.Glu285Val)
c.1700A>T (p.Glu567Val)
c.674A>T (p.Glu225Val)
dbSNP gnomAD v2 gnomAD v4
2g.112008405G>ACA428275214MERTKc.1890G>A (p.Glu630=)
c.1362G>A (p.Glu454=)
c.*1363G>A (n.*1363G>A)
c.855G>A (p.Glu285=)
c.1701G>A (p.Glu567=)
c.675G>A (p.Glu225=)
2g.112008405G>CCA348233143MERTKc.1890G>C (p.Glu630Asp)
c.1362G>C (p.Glu454Asp)
c.*1363G>C (n.*1363G>C)
c.855G>C (p.Glu285Asp)
c.1701G>C (p.Glu567Asp)
c.675G>C (p.Glu225Asp)
2g.112008405G>TCA348233144MERTKc.1890G>T (p.Glu630Asp)
c.1362G>T (p.Glu454Asp)
c.*1363G>T (n.*1363G>T)
c.855G>T (p.Glu285Asp)
c.1701G>T (p.Glu567Asp)
c.675G>T (p.Glu225Asp)
2g.112008406A>CCA348233147MERTKc.1891A>C (p.Ile631Leu)
c.1363A>C (p.Ile455Leu)
c.*1364A>C (n.*1364A>C)
c.856A>C (p.Ile286Leu)
c.1702A>C (p.Ile568Leu)
c.676A>C (p.Ile226Leu)
2g.112008406A>GCA348233148MERTKc.1891A>G (p.Ile631Val)
c.1363A>G (p.Ile455Val)
c.*1364A>G (n.*1364A>G)
c.856A>G (p.Ile286Val)
c.1702A>G (p.Ile568Val)
c.676A>G (p.Ile226Val)
2g.112008406A>TCA348233149MERTKc.1891A>T (p.Ile631Phe)
c.1363A>T (p.Ile455Phe)
c.*1364A>T (n.*1364A>T)
c.856A>T (p.Ile286Phe)
c.1702A>T (p.Ile568Phe)
c.676A>T (p.Ile226Phe)
2g.112008407T>ACA348233151MERTKc.1892T>A (p.Ile631Asn)
c.1364T>A (p.Ile455Asn)
c.*1365T>A (n.*1365T>A)
c.857T>A (p.Ile286Asn)
c.1703T>A (p.Ile568Asn)
c.677T>A (p.Ile226Asn)
2g.112008407T>CCA348233153MERTKc.1892T>C (p.Ile631Thr)
c.1364T>C (p.Ile455Thr)
c.*1365T>C (n.*1365T>C)
c.857T>C (p.Ile286Thr)
c.1703T>C (p.Ile568Thr)
c.677T>C (p.Ile226Thr)
2g.112008407T>GCA348233155MERTKc.1892T>G (p.Ile631Ser)
c.1364T>G (p.Ile455Ser)
c.*1365T>G (n.*1365T>G)
c.857T>G (p.Ile286Ser)
c.1703T>G (p.Ile568Ser)
c.677T>G (p.Ile226Ser)
2g.112008408C>ACA428275215MERTKc.1893C>A (p.Ile631=)
c.1365C>A (p.Ile455=)
c.*1366C>A (n.*1366C>A)
c.858C>A (p.Ile286=)
c.1704C>A (p.Ile568=)
c.678C>A (p.Ile226=)
gnomAD v4
2g.112008408C=CA1279571240MERTKc.1893C= (p.Ile631=)
c.1365C= (p.Ile455=)
c.*1366C= (n.*1366C=)
c.858C= (p.Ile286=)
c.1704C= (p.Ile568=)
c.678C= (p.Ile226=)
2g.112008408C>GCA348233157MERTKc.1893C>G (p.Ile631Met)
c.1365C>G (p.Ile455Met)
c.*1366C>G (n.*1366C>G)
c.858C>G (p.Ile286Met)
c.1704C>G (p.Ile568Met)
c.678C>G (p.Ile226Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.112008408C>TCA1831586MERTKc.1893C>T (p.Ile631=)
c.1365C>T (p.Ile455=)
c.*1366C>T (n.*1366C>T)
c.858C>T (p.Ile286=)
c.1704C>T (p.Ile568=)
c.678C>T (p.Ile226=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008409G>ACA222925MERTKc.1894G>A (p.Glu632Lys)
c.1366G>A (p.Glu456Lys)
c.*1367G>A (n.*1367G>A)
c.859G>A (p.Glu287Lys)
c.1705G>A (p.Glu569Lys)
c.679G>A (p.Glu227Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008409G>CCA348233161MERTKc.1894G>C (p.Glu632Gln)
c.1366G>C (p.Glu456Gln)
c.*1367G>C (n.*1367G>C)
c.859G>C (p.Glu287Gln)
c.1705G>C (p.Glu569Gln)
c.679G>C (p.Glu227Gln)
2g.112008409G=CA1279571241MERTKc.1894G= (p.Glu632=)
c.1366G= (p.Glu456=)
c.*1367G= (n.*1367G=)
c.859G= (p.Glu287=)
c.1705G= (p.Glu569=)
c.679G= (p.Glu227=)
2g.112008409G>TCA348233163MERTKc.1894G>T (p.Glu632Ter)
c.1366G>T (p.Glu456Ter)
c.*1367G>T (n.*1367G>T)
c.859G>T (p.Glu287Ter)
c.1705G>T (p.Glu569Ter)
c.679G>T (p.Glu227Ter)
2g.112008410A>CCA348233165MERTKc.1895A>C (p.Glu632Ala)
c.1367A>C (p.Glu456Ala)
c.*1368A>C (n.*1368A>C)
c.860A>C (p.Glu287Ala)
c.1706A>C (p.Glu569Ala)
c.680A>C (p.Glu227Ala)
2g.112008410A>GCA348233167MERTKc.1895A>G (p.Glu632Gly)
c.1367A>G (p.Glu456Gly)
c.*1368A>G (n.*1368A>G)
c.860A>G (p.Glu287Gly)
c.1706A>G (p.Glu569Gly)
c.680A>G (p.Glu227Gly)
2g.112008410A>TCA348233166MERTKc.1895A>T (p.Glu632Val)
c.1367A>T (p.Glu456Val)
c.*1368A>T (n.*1368A>T)
c.860A>T (p.Glu287Val)
c.1706A>T (p.Glu569Val)
c.680A>T (p.Glu227Val)
2g.112008411G>ACA428275216MERTKc.1896G>A (p.Glu632=)
c.1368G>A (p.Glu456=)
c.*1369G>A (n.*1369G>A)
c.861G>A (p.Glu287=)
c.1707G>A (p.Glu569=)
c.681G>A (p.Glu227=)
2g.112008411G>CCA348233169MERTKc.1896G>C (p.Glu632Asp)
c.1368G>C (p.Glu456Asp)
c.*1369G>C (n.*1369G>C)
c.861G>C (p.Glu287Asp)
c.1707G>C (p.Glu569Asp)
c.681G>C (p.Glu227Asp)
2g.112008411G>TCA348233171MERTKc.1896G>T (p.Glu632Asp)
c.1368G>T (p.Glu456Asp)
c.*1369G>T (n.*1369G>T)
c.861G>T (p.Glu287Asp)
c.1707G>T (p.Glu569Asp)
c.681G>T (p.Glu227Asp)
2g.112008412G>ACA348233173MERTKc.1897G>A (p.Glu633Lys)
c.1369G>A (p.Glu457Lys)
c.*1370G>A (n.*1370G>A)
c.862G>A (p.Glu288Lys)
c.1708G>A (p.Glu570Lys)
c.682G>A (p.Glu228Lys)
dbSNP gnomAD v2 gnomAD v4
2g.112008412G>CCA348233179MERTKc.1897G>C (p.Glu633Gln)
c.1369G>C (p.Glu457Gln)
c.*1370G>C (n.*1370G>C)
c.862G>C (p.Glu288Gln)
c.1708G>C (p.Glu570Gln)
c.682G>C (p.Glu228Gln)
2g.112008412G=CA1279571242MERTKc.1897G= (p.Glu633=)
c.1369G= (p.Glu457=)
c.*1370G= (n.*1370G=)
c.862G= (p.Glu288=)
c.1708G= (p.Glu570=)
c.682G= (p.Glu228=)
2g.112008412G>TCA348233181MERTKc.1897G>T (p.Glu633Ter)
c.1369G>T (p.Glu457Ter)
c.*1370G>T (n.*1370G>T)
c.862G>T (p.Glu288Ter)
c.1708G>T (p.Glu570Ter)
c.682G>T (p.Glu228Ter)
dbSNP gnomAD v4
2g.112008413delCA2660690112MERTKc.1898del (p.Glu633GlyfsTer9)
c.1370del (p.Glu457GlyfsTer9)
c.*1371del (n.*1371del)
c.863del (p.Glu288GlyfsTer9)
c.1709del (p.Glu570GlyfsTer9)
c.683del (p.Glu228GlyfsTer9)
gnomAD v4
2g.112008413A>CCA348233183MERTKc.1898A>C (p.Glu633Ala)
c.1370A>C (p.Glu457Ala)
c.*1371A>C (n.*1371A>C)
c.863A>C (p.Glu288Ala)
c.1709A>C (p.Glu570Ala)
c.683A>C (p.Glu228Ala)
2g.112008413A>GCA348233184MERTKc.1898A>G (p.Glu633Gly)
c.1370A>G (p.Glu457Gly)
c.*1371A>G (n.*1371A>G)
c.863A>G (p.Glu288Gly)
c.1709A>G (p.Glu570Gly)
c.683A>G (p.Glu228Gly)
2g.112008413A>TCA348233185MERTKc.1898A>T (p.Glu633Val)
c.1370A>T (p.Glu457Val)
c.*1371A>T (n.*1371A>T)
c.863A>T (p.Glu288Val)
c.1709A>T (p.Glu570Val)
c.683A>T (p.Glu228Val)
2g.112008414G>ACA428275217MERTKc.1899G>A (p.Glu633=)
c.1371G>A (p.Glu457=)
c.*1372G>A (n.*1372G>A)
c.864G>A (p.Glu288=)
c.1710G>A (p.Glu570=)
c.684G>A (p.Glu228=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.112008414G>CCA348233186MERTKc.1899G>C (p.Glu633Asp)
c.1371G>C (p.Glu457Asp)
c.*1372G>C (n.*1372G>C)
c.864G>C (p.Glu288Asp)
c.1710G>C (p.Glu570Asp)
c.684G>C (p.Glu228Asp)
2g.112008414G=CA1279571243MERTKc.1899G= (p.Glu633=)
c.1371G= (p.Glu457=)
c.*1372G= (n.*1372G=)
c.864G= (p.Glu288=)
c.1710G= (p.Glu570=)
c.684G= (p.Glu228=)
2g.112008414G>TCA348233187MERTKc.1899G>T (p.Glu633Asp)
c.1371G>T (p.Glu457Asp)
c.*1372G>T (n.*1372G>T)
c.864G>T (p.Glu288Asp)
c.1710G>T (p.Glu570Asp)
c.684G>T (p.Glu228Asp)
2g.112008415T>ACA348233188MERTKc.1900T>A (p.Phe634Ile)
c.1372T>A (p.Phe458Ile)
c.*1373T>A (n.*1373T>A)
c.865T>A (p.Phe289Ile)
c.1711T>A (p.Phe571Ile)
c.685T>A (p.Phe229Ile)
2g.112008415T>CCA348233189MERTKc.1900T>C (p.Phe634Leu)
c.1372T>C (p.Phe458Leu)
c.*1373T>C (n.*1373T>C)
c.865T>C (p.Phe289Leu)
c.1711T>C (p.Phe571Leu)
c.685T>C (p.Phe229Leu)
2g.112008415T>GCA348233190MERTKc.1900T>G (p.Phe634Val)
c.1372T>G (p.Phe458Val)
c.*1373T>G (n.*1373T>G)
c.865T>G (p.Phe289Val)
c.1711T>G (p.Phe571Val)
c.685T>G (p.Phe229Val)
2g.112008417delCA2586969804MERTKc.1902del (p.Leu635SerfsTer7)
c.1374del (p.Leu459SerfsTer7)
c.*1375del (n.*1375del)
c.867del (p.Leu290SerfsTer7)
c.1713del (p.Leu572SerfsTer7)
c.687del (p.Leu230SerfsTer7)
2g.112008416T>ACA348233194MERTKc.1901T>A (p.Phe634Tyr)
c.1373T>A (p.Phe458Tyr)
c.*1374T>A (n.*1374T>A)
c.866T>A (p.Phe289Tyr)
c.1712T>A (p.Phe571Tyr)
c.686T>A (p.Phe229Tyr)
2g.112008416T>CCA348233191MERTKc.1901T>C (p.Phe634Ser)
c.1373T>C (p.Phe458Ser)
c.*1374T>C (n.*1374T>C)
c.866T>C (p.Phe289Ser)
c.1712T>C (p.Phe571Ser)
c.686T>C (p.Phe229Ser)
2g.112008416T>GCA348233193MERTKc.1901T>G (p.Phe634Cys)
c.1373T>G (p.Phe458Cys)
c.*1374T>G (n.*1374T>G)
c.866T>G (p.Phe289Cys)
c.1712T>G (p.Phe571Cys)
c.686T>G (p.Phe229Cys)
2g.112008417T>ACA348233195MERTKc.1902T>A (p.Phe634Leu)
c.1374T>A (p.Phe458Leu)
c.*1375T>A (n.*1375T>A)
c.867T>A (p.Phe289Leu)
c.1713T>A (p.Phe571Leu)
c.687T>A (p.Phe229Leu)
2g.112008417T>CCA428275218MERTKc.1902T>C (p.Phe634=)
c.1374T>C (p.Phe458=)
c.*1375T>C (n.*1375T>C)
c.867T>C (p.Phe289=)
c.1713T>C (p.Phe571=)
c.687T>C (p.Phe229=)
2g.112008417T>GCA348233197MERTKc.1902T>G (p.Phe634Leu)
c.1374T>G (p.Phe458Leu)
c.*1375T>G (n.*1375T>G)
c.867T>G (p.Phe289Leu)
c.1713T>G (p.Phe571Leu)
c.687T>G (p.Phe229Leu)
2g.112008418C>ACA348233199MERTKc.1903C>A (p.Leu635Ile)
c.1375C>A (p.Leu459Ile)
c.*1376C>A (n.*1376C>A)
c.868C>A (p.Leu290Ile)
c.1714C>A (p.Leu572Ile)
c.688C>A (p.Leu230Ile)
2g.112008418C>GCA348233201MERTKc.1903C>G (p.Leu635Val)
c.1375C>G (p.Leu459Val)
c.*1376C>G (n.*1376C>G)
c.868C>G (p.Leu290Val)
c.1714C>G (p.Leu572Val)
c.688C>G (p.Leu230Val)
gnomAD v4
2g.112008418C>TCA348233203MERTKc.1903C>T (p.Leu635Phe)
c.1375C>T (p.Leu459Phe)
c.*1376C>T (n.*1376C>T)
c.868C>T (p.Leu290Phe)
c.1714C>T (p.Leu572Phe)
c.688C>T (p.Leu230Phe)
gnomAD v4
2g.112008419T>ACA348233204MERTKc.1904T>A (p.Leu635His)
c.1376T>A (p.Leu459His)
c.*1377T>A (n.*1377T>A)
c.869T>A (p.Leu290His)
c.1715T>A (p.Leu572His)
c.689T>A (p.Leu230His)
2g.112008419T>CCA348233206MERTKc.1904T>C (p.Leu635Pro)
c.1376T>C (p.Leu459Pro)
c.*1377T>C (n.*1377T>C)
c.869T>C (p.Leu290Pro)
c.1715T>C (p.Leu572Pro)
c.689T>C (p.Leu230Pro)
2g.112008419T>GCA348233208MERTKc.1904T>G (p.Leu635Arg)
c.1376T>G (p.Leu459Arg)
c.*1377T>G (n.*1377T>G)
c.869T>G (p.Leu290Arg)
c.1715T>G (p.Leu572Arg)
c.689T>G (p.Leu230Arg)
2g.112008420C>ACA428275219MERTKc.1905C>A (p.Leu635=)
c.1377C>A (p.Leu459=)
c.*1378C>A (n.*1378C>A)
c.870C>A (p.Leu290=)
c.1716C>A (p.Leu572=)
c.690C>A (p.Leu230=)
2g.112008420C=CA1279571244MERTKc.1905C= (p.Leu635=)
c.1377C= (p.Leu459=)
c.*1378C= (n.*1378C=)
c.870C= (p.Leu290=)
c.1716C= (p.Leu572=)
c.690C= (p.Leu230=)
2g.112008420C>GCA428275220MERTKc.1905C>G (p.Leu635=)
c.1377C>G (p.Leu459=)
c.*1378C>G (n.*1378C>G)
c.870C>G (p.Leu290=)
c.1716C>G (p.Leu572=)
c.690C>G (p.Leu230=)
2g.112008420C>TCA428275221MERTKc.1905C>T (p.Leu635=)
c.1377C>T (p.Leu459=)
c.*1378C>T (n.*1378C>T)
c.870C>T (p.Leu290=)
c.1716C>T (p.Leu572=)
c.690C>T (p.Leu230=)
ClinVar dbSNP gnomAD v4
2g.112008421A=CA1279571245MERTKc.1906A= (p.Ser636=)
c.1378A= (p.Ser460=)
c.*1379A= (n.*1379A=)
c.871A= (p.Ser291=)
c.1717A= (p.Ser573=)
c.691A= (p.Ser231=)
2g.112008421A>CCA348233209MERTKc.1906A>C (p.Ser636Arg)
c.1378A>C (p.Ser460Arg)
c.*1379A>C (n.*1379A>C)
c.871A>C (p.Ser291Arg)
c.1717A>C (p.Ser573Arg)
c.691A>C (p.Ser231Arg)
2g.112008421A>GCA1831587MERTKc.1906A>G (p.Ser636Gly)
c.1378A>G (p.Ser460Gly)
c.*1379A>G (n.*1379A>G)
c.871A>G (p.Ser291Gly)
c.1717A>G (p.Ser573Gly)
c.691A>G (p.Ser231Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008421A>TCA348233212MERTKc.1906A>T (p.Ser636Cys)
c.1378A>T (p.Ser460Cys)
c.*1379A>T (n.*1379A>T)
c.871A>T (p.Ser291Cys)
c.1717A>T (p.Ser573Cys)
c.691A>T (p.Ser231Cys)
gnomAD v4
2g.112008422G>ACA348233214MERTKc.1907G>A (p.Ser636Asn)
c.1379G>A (p.Ser460Asn)
c.*1380G>A (n.*1380G>A)
c.872G>A (p.Ser291Asn)
c.1718G>A (p.Ser573Asn)
c.692G>A (p.Ser231Asn)
2g.112008422G>CCA1831588MERTKc.1907G>C (p.Ser636Thr)
c.1379G>C (p.Ser460Thr)
c.*1380G>C (n.*1380G>C)
c.872G>C (p.Ser291Thr)
c.1718G>C (p.Ser573Thr)
c.692G>C (p.Ser231Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008422G=CA1279571246MERTKc.1907G= (p.Ser636=)
c.1379G= (p.Ser460=)
c.*1380G= (n.*1380G=)
c.872G= (p.Ser291=)
c.1718G= (p.Ser573=)
c.692G= (p.Ser231=)
2g.112008422G>TCA348233216MERTKc.1907G>T (p.Ser636Ile)
c.1379G>T (p.Ser460Ile)
c.*1380G>T (n.*1380G>T)
c.872G>T (p.Ser291Ile)
c.1718G>T (p.Ser573Ile)
c.692G>T (p.Ser231Ile)
2g.112008423T>ACA348233218MERTKc.1908T>A (p.Ser636Arg)
c.1380T>A (p.Ser460Arg)
c.*1381T>A (n.*1381T>A)
c.873T>A (p.Ser291Arg)
c.1719T>A (p.Ser573Arg)
c.693T>A (p.Ser231Arg)
2g.112008423T>CCA428275222MERTKc.1908T>C (p.Ser636=)
c.1380T>C (p.Ser460=)
c.*1381T>C (n.*1381T>C)
c.873T>C (p.Ser291=)
c.1719T>C (p.Ser573=)
c.693T>C (p.Ser231=)
2g.112008423T>GCA348233220MERTKc.1908T>G (p.Ser636Arg)
c.1380T>G (p.Ser460Arg)
c.*1381T>G (n.*1381T>G)
c.873T>G (p.Ser291Arg)
c.1719T>G (p.Ser573Arg)
c.693T>G (p.Ser231Arg)
2g.112008424G>ACA348233222MERTKc.1909G>A (p.Glu637Lys)
c.1381G>A (p.Glu461Lys)
c.*1382G>A (n.*1382G>A)
c.874G>A (p.Glu292Lys)
c.1720G>A (p.Glu574Lys)
c.694G>A (p.Glu232Lys)
gnomAD v4
2g.112008424G>CCA348233223MERTKc.1909G>C (p.Glu637Gln)
c.1381G>C (p.Glu461Gln)
c.*1382G>C (n.*1382G>C)
c.874G>C (p.Glu292Gln)
c.1720G>C (p.Glu574Gln)
c.694G>C (p.Glu232Gln)
2g.112008424G>TCA348233225MERTKc.1909G>T (p.Glu637Ter)
c.1381G>T (p.Glu461Ter)
c.*1382G>T (n.*1382G>T)
c.874G>T (p.Glu292Ter)
c.1720G>T (p.Glu574Ter)
c.694G>T (p.Glu232Ter)
2g.112008425A>CCA348233227MERTKc.1910A>C (p.Glu637Ala)
c.1382A>C (p.Glu461Ala)
c.*1383A>C (n.*1383A>C)
c.875A>C (p.Glu292Ala)
c.1721A>C (p.Glu574Ala)
c.695A>C (p.Glu232Ala)
2g.112008425A>GCA348233229MERTKc.1910A>G (p.Glu637Gly)
c.1382A>G (p.Glu461Gly)
c.*1383A>G (n.*1383A>G)
c.875A>G (p.Glu292Gly)
c.1721A>G (p.Glu574Gly)
c.695A>G (p.Glu232Gly)
2g.112008425A>TCA348233230MERTKc.1910A>T (p.Glu637Val)
c.1382A>T (p.Glu461Val)
c.*1383A>T (n.*1383A>T)
c.875A>T (p.Glu292Val)
c.1721A>T (p.Glu574Val)
c.695A>T (p.Glu232Val)
2g.112008426G>ACA428275223MERTKc.1911G>A (p.Glu637=)
c.1383G>A (p.Glu461=)
c.*1384G>A (n.*1384G>A)
c.876G>A (p.Glu292=)
c.1722G>A (p.Glu574=)
c.696G>A (p.Glu232=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.112008426G>CCA348233232MERTKc.1911G>C (p.Glu637Asp)
c.1383G>C (p.Glu461Asp)
c.*1384G>C (n.*1384G>C)
c.876G>C (p.Glu292Asp)
c.1722G>C (p.Glu574Asp)
c.696G>C (p.Glu232Asp)
2g.112008426G=CA1279571247MERTKc.1911G= (p.Glu637=)
c.1383G= (p.Glu461=)
c.*1384G= (n.*1384G=)
c.876G= (p.Glu292=)
c.1722G= (p.Glu574=)
c.696G= (p.Glu232=)
2g.112008426G>TCA348233234MERTKc.1911G>T (p.Glu637Asp)
c.1383G>T (p.Glu461Asp)
c.*1384G>T (n.*1384G>T)
c.876G>T (p.Glu292Asp)
c.1722G>T (p.Glu574Asp)
c.696G>T (p.Glu232Asp)
2g.112008427dupCA2660690113MERTKc.1912dup (p.Ala638GlyfsTer?)
c.1384dup (p.Ala462GlyfsTer?)
c.*1385dup (n.*1385dup)
c.877dup (p.Ala293GlyfsTer22)
c.1723dup (p.Ala575GlyfsTer?)
c.697dup (p.Ala233GlyfsTer?)
gnomAD v4
2g.112008427G>ACA348233235MERTKc.1912G>A (p.Ala638Thr)
c.1384G>A (p.Ala462Thr)
c.*1385G>A (n.*1385G>A)
c.877G>A (p.Ala293Thr)
c.1723G>A (p.Ala575Thr)
c.697G>A (p.Ala233Thr)
COSMIC
2g.112008427G>CCA348233237MERTKc.1912G>C (p.Ala638Pro)
c.1384G>C (p.Ala462Pro)
c.*1385G>C (n.*1385G>C)
c.877G>C (p.Ala293Pro)
c.1723G>C (p.Ala575Pro)
c.697G>C (p.Ala233Pro)
2g.112008427G>TCA348233239MERTKc.1912G>T (p.Ala638Ser)
c.1384G>T (p.Ala462Ser)
c.*1385G>T (n.*1385G>T)
c.877G>T (p.Ala293Ser)
c.1723G>T (p.Ala575Ser)
c.697G>T (p.Ala233Ser)
2g.112008428C>ACA348233245MERTKc.1913C>A (p.Ala638Glu)
c.1385C>A (p.Ala462Glu)
c.*1386C>A (n.*1386C>A)
c.878C>A (p.Ala293Glu)
c.1724C>A (p.Ala575Glu)
c.698C>A (p.Ala233Glu)
2g.112008428C=CA1279571248MERTKc.1913C= (p.Ala638=)
c.1385C= (p.Ala462=)
c.*1386C= (n.*1386C=)
c.878C= (p.Ala293=)
c.1724C= (p.Ala575=)
c.698C= (p.Ala233=)
2g.112008428C>GCA348233243MERTKc.1913C>G (p.Ala638Gly)
c.1385C>G (p.Ala462Gly)
c.*1386C>G (n.*1386C>G)
c.878C>G (p.Ala293Gly)
c.1724C>G (p.Ala575Gly)
c.698C>G (p.Ala233Gly)
2g.112008428C>TCA348233241MERTKc.1913C>T (p.Ala638Val)
c.1385C>T (p.Ala462Val)
c.*1386C>T (n.*1386C>T)
c.878C>T (p.Ala293Val)
c.1724C>T (p.Ala575Val)
c.698C>T (p.Ala233Val)
dbSNP
2g.112008429A>CCA428275225MERTKc.1914A>C (p.Ala638=)
c.1386A>C (p.Ala462=)
c.*1387A>C (n.*1387A>C)
c.879A>C (p.Ala293=)
c.1725A>C (p.Ala575=)
c.699A>C (p.Ala233=)
2g.112008429A>GCA428275226MERTKc.1914A>G (p.Ala638=)
c.1386A>G (p.Ala462=)
c.*1387A>G (n.*1387A>G)
c.879A>G (p.Ala293=)
c.1725A>G (p.Ala575=)
c.699A>G (p.Ala233=)
2g.112008429A>TCA428275224MERTKc.1914A>T (p.Ala638=)
c.1386A>T (p.Ala462=)
c.*1387A>T (n.*1387A>T)
c.879A>T (p.Ala293=)
c.1725A>T (p.Ala575=)
c.699A>T (p.Ala233=)
gnomAD v4
2g.112008430G>ACA348233246MERTKc.1915G>A (p.Ala639Thr)
c.1387G>A (p.Ala463Thr)
c.*1388G>A (n.*1388G>A)
c.880G>A (p.Ala294Thr)
c.1726G>A (p.Ala576Thr)
c.700G>A (p.Ala234Thr)
2g.112008430G>CCA348233249MERTKc.1915G>C (p.Ala639Pro)
c.1387G>C (p.Ala463Pro)
c.*1388G>C (n.*1388G>C)
c.880G>C (p.Ala294Pro)
c.1726G>C (p.Ala576Pro)
c.700G>C (p.Ala234Pro)
2g.112008430G>TCA348233250MERTKc.1915G>T (p.Ala639Ser)
c.1387G>T (p.Ala463Ser)
c.*1388G>T (n.*1388G>T)
c.880G>T (p.Ala294Ser)
c.1726G>T (p.Ala576Ser)
c.700G>T (p.Ala234Ser)
2g.112008431C>ACA348233252MERTKc.1916C>A (p.Ala639Glu)
c.1388C>A (p.Ala463Glu)
c.*1389C>A (n.*1389C>A)
c.881C>A (p.Ala294Glu)
c.1727C>A (p.Ala576Glu)
c.701C>A (p.Ala234Glu)
2g.112008431C=CA1279571249MERTKc.1916C= (p.Ala639=)
c.1388C= (p.Ala463=)
c.*1389C= (n.*1389C=)
c.881C= (p.Ala294=)
c.1727C= (p.Ala576=)
c.701C= (p.Ala234=)
2g.112008431C>GCA348233253MERTKc.1916C>G (p.Ala639Gly)
c.1388C>G (p.Ala463Gly)
c.*1389C>G (n.*1389C>G)
c.881C>G (p.Ala294Gly)
c.1727C>G (p.Ala576Gly)
c.701C>G (p.Ala234Gly)
2g.112008431C>TCA348233255MERTKc.1916C>T (p.Ala639Val)
c.1388C>T (p.Ala463Val)
c.*1389C>T (n.*1389C>T)
c.881C>T (p.Ala294Val)
c.1727C>T (p.Ala576Val)
c.701C>T (p.Ala234Val)
ClinVar dbSNP gnomAD v4
2g.112008432G>ACA428275229MERTKc.1917G>A (p.Ala639=)
c.1389G>A (p.Ala463=)
c.*1390G>A (n.*1390G>A)
c.882G>A (p.Ala294=)
c.1728G>A (p.Ala576=)
c.702G>A (p.Ala234=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008432G>CCA428275227MERTKc.1917G>C (p.Ala639=)
c.1389G>C (p.Ala463=)
c.*1390G>C (n.*1390G>C)
c.882G>C (p.Ala294=)
c.1728G>C (p.Ala576=)
c.702G>C (p.Ala234=)
2g.112008432G=CA1279571250MERTKc.1917G= (p.Ala639=)
c.1389G= (p.Ala463=)
c.*1390G= (n.*1390G=)
c.882G= (p.Ala294=)
c.1728G= (p.Ala576=)
c.702G= (p.Ala234=)
2g.112008432G>TCA428275228MERTKc.1917G>T (p.Ala639=)
c.1389G>T (p.Ala463=)
c.*1390G>T (n.*1390G>T)
c.882G>T (p.Ala294=)
c.1728G>T (p.Ala576=)
c.702G>T (p.Ala234=)
dbSNP
2g.112008433T>ACA348233257MERTKc.1918T>A (p.Cys640Ser)
c.1390T>A (p.Cys464Ser)
c.*1391T>A (n.*1391T>A)
c.883T>A (p.Cys295Ser)
c.1729T>A (p.Cys577Ser)
c.703T>A (p.Cys235Ser)
2g.112008433T>CCA348233258MERTKc.1918T>C (p.Cys640Arg)
c.1390T>C (p.Cys464Arg)
c.*1391T>C (n.*1391T>C)
c.883T>C (p.Cys295Arg)
c.1729T>C (p.Cys577Arg)
c.703T>C (p.Cys235Arg)
2g.112008433T>GCA348233259MERTKc.1918T>G (p.Cys640Gly)
c.1390T>G (p.Cys464Gly)
c.*1391T>G (n.*1391T>G)
c.883T>G (p.Cys295Gly)
c.1729T>G (p.Cys577Gly)
c.703T>G (p.Cys235Gly)
2g.112008434G>ACA348233261MERTKc.1919G>A (p.Cys640Tyr)
c.1391G>A (p.Cys464Tyr)
c.*1392G>A (n.*1392G>A)
c.884G>A (p.Cys295Tyr)
c.1730G>A (p.Cys577Tyr)
c.704G>A (p.Cys235Tyr)
2g.112008434G>CCA348233263MERTKc.1919G>C (p.Cys640Ser)
c.1391G>C (p.Cys464Ser)
c.*1392G>C (n.*1392G>C)
c.884G>C (p.Cys295Ser)
c.1730G>C (p.Cys577Ser)
c.704G>C (p.Cys235Ser)
2g.112008434G>TCA348233265MERTKc.1919G>T (p.Cys640Phe)
c.1391G>T (p.Cys464Phe)
c.*1392G>T (n.*1392G>T)
c.884G>T (p.Cys295Phe)
c.1730G>T (p.Cys577Phe)
c.704G>T (p.Cys235Phe)
2g.112008435C>ACA348233268MERTKc.1920C>A (p.Cys640Ter)
c.1392C>A (p.Cys464Ter)
c.*1393C>A (n.*1393C>A)
c.885C>A (p.Cys295Ter)
c.1731C>A (p.Cys577Ter)
c.705C>A (p.Cys235Ter)
2g.112008435C>GCA348233266MERTKc.1920C>G (p.Cys640Trp)
c.1392C>G (p.Cys464Trp)
c.*1393C>G (n.*1393C>G)
c.885C>G (p.Cys295Trp)
c.1731C>G (p.Cys577Trp)
c.705C>G (p.Cys235Trp)
2g.112008435C>TCA428275230MERTKc.1920C>T (p.Cys640=)
c.1392C>T (p.Cys464=)
c.*1393C>T (n.*1393C>T)
c.885C>T (p.Cys295=)
c.1731C>T (p.Cys577=)
c.705C>T (p.Cys235=)
gnomAD v4
2g.112008436A=CA1279571251MERTKc.1921A= (p.Met641=)
c.1393A= (p.Met465=)
c.*1394A= (n.*1394A=)
c.886A= (p.Met296=)
c.1732A= (p.Met578=)
c.706A= (p.Met236=)
2g.112008436A>CCA1831589MERTKc.1921A>C (p.Met641Leu)
c.1393A>C (p.Met465Leu)
c.*1394A>C (n.*1394A>C)
c.886A>C (p.Met296Leu)
c.1732A>C (p.Met578Leu)
c.706A>C (p.Met236Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008436A>GCA348233271MERTKc.1921A>G (p.Met641Val)
c.1393A>G (p.Met465Val)
c.*1394A>G (n.*1394A>G)
c.886A>G (p.Met296Val)
c.1732A>G (p.Met578Val)
c.706A>G (p.Met236Val)
gnomAD v4
2g.112008436A>TCA348233273MERTKc.1921A>T (p.Met641Leu)
c.1393A>T (p.Met465Leu)
c.*1394A>T (n.*1394A>T)
c.886A>T (p.Met296Leu)
c.1732A>T (p.Met578Leu)
c.706A>T (p.Met236Leu)
2g.112008437T>ACA348233275MERTKc.1922T>A (p.Met641Lys)
c.1394T>A (p.Met465Lys)
c.*1395T>A (n.*1395T>A)
c.887T>A (p.Met296Lys)
c.1733T>A (p.Met578Lys)
c.707T>A (p.Met236Lys)
2g.112008437T>CCA1831590MERTKc.1922T>C (p.Met641Thr)
c.1394T>C (p.Met465Thr)
c.*1395T>C (n.*1395T>C)
c.887T>C (p.Met296Thr)
c.1733T>C (p.Met578Thr)
c.707T>C (p.Met236Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008437T>GCA348233277MERTKc.1922T>G (p.Met641Arg)
c.1394T>G (p.Met465Arg)
c.*1395T>G (n.*1395T>G)
c.887T>G (p.Met296Arg)
c.1733T>G (p.Met578Arg)
c.707T>G (p.Met236Arg)
2g.112008437T=CA1279571252MERTKc.1922T= (p.Met641=)
c.1394T= (p.Met465=)
c.*1395T= (n.*1395T=)
c.887T= (p.Met296=)
c.1733T= (p.Met578=)
c.707T= (p.Met236=)

Number of alleles fetched