Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99420506T>ACA2671525097ADH7c.825+27A>T (n.825+27A>T)
c.861+27A>T (n.861+27A>T)
c.885+27A>T (n.885+27A>T)
c.654+27A>T (n.654+27A>T)
 gnomAD v4
4g.99420506T>CCA2671525096ADH7c.825+27A>G (n.825+27A>G)
c.861+27A>G (n.861+27A>G)
c.885+27A>G (n.885+27A>G)
c.654+27A>G (n.654+27A>G)
 gnomAD v4
4g.99420507G>TCA2671525098ADH7c.825+26C>A (n.825+26C>A)
c.861+26C>A (n.861+26C>A)
c.885+26C>A (n.885+26C>A)
c.654+26C>A (n.654+26C>A)
 gnomAD v4
4g.99420508T>ACA3020712ADH7c.825+25A>T (n.825+25A>T)
c.861+25A>T (n.861+25A>T)
c.885+25A>T (n.885+25A>T)
c.654+25A>T (n.654+25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420508T>CCA800741803ADH7c.825+25A>G (n.825+25A>G)
c.861+25A>G (n.861+25A>G)
c.885+25A>G (n.885+25A>G)
c.654+25A>G (n.654+25A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99420508T>GCA2671525099ADH7c.825+25A>C (n.825+25A>C)
c.861+25A>C (n.861+25A>C)
c.885+25A>C (n.885+25A>C)
c.654+25A>C (n.654+25A>C)
 gnomAD v4
4g.99420508T=CA1479993728ADH7c.825+25A= (n.825+25A=)
c.861+25A= (n.861+25A=)
c.885+25A= (n.885+25A=)
c.654+25A= (n.654+25A=)
4g.99420509G>ACA3020713ADH7c.825+24C>T (n.825+24C>T)
c.861+24C>T (n.861+24C>T)
c.885+24C>T (n.885+24C>T)
c.654+24C>T (n.654+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420509G=CA1479993730ADH7c.825+24C= (n.825+24C=)
c.861+24C= (n.861+24C=)
c.885+24C= (n.885+24C=)
c.654+24C= (n.654+24C=)
4g.99420510G>CCA2578151624ADH7c.825+23C>G (n.825+23C>G)
c.861+23C>G (n.861+23C>G)
c.885+23C>G (n.885+23C>G)
c.654+23C>G (n.654+23C>G)
4g.99420511C>ACA2671525100ADH7c.825+22G>T (n.825+22G>T)
c.861+22G>T (n.861+22G>T)
c.885+22G>T (n.885+22G>T)
c.654+22G>T (n.654+22G>T)
 gnomAD v4
4g.99420511C=CA1479993732ADH7c.825+22G= (n.825+22G=)
c.861+22G= (n.861+22G=)
c.885+22G= (n.885+22G=)
c.654+22G= (n.654+22G=)
4g.99420511C>TCA3020714ADH7c.825+22G>A (n.825+22G>A)
c.861+22G>A (n.861+22G>A)
c.885+22G>A (n.885+22G>A)
c.654+22G>A (n.654+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420513_99420519delinsTCTCAAACA1479993734ADH7c.825+14_825+20delinsTTTGAGA (n.825+14_825+20delinsTTTGAGA)
c.861+14_861+20delinsTTTGAGA (n.861+14_861+20delinsTTTGAGA)
c.885+14_885+20delinsTTTGAGA (n.885+14_885+20delinsTTTGAGA)
c.654+14_654+20delinsTTTGAGA (n.654+14_654+20delinsTTTGAGA)
4g.99420514C=CA1479993736ADH7c.825+19G= (n.825+19G=)
c.861+19G= (n.861+19G=)
c.885+19G= (n.885+19G=)
c.654+19G= (n.654+19G=)
4g.99420514C>TCA3020715ADH7c.825+19G>A (n.825+19G>A)
c.861+19G>A (n.861+19G>A)
c.885+19G>A (n.885+19G>A)
c.654+19G>A (n.654+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420514_99420519delCA553568132ADH7c.825+14_825+19del (n.825+14_825+19del)
c.861+14_861+19del (n.861+14_861+19del)
c.885+14_885+19del (n.885+14_885+19del)
c.654+14_654+19del (n.654+14_654+19del)
 dbSNP gnomAD v2
4g.99420516C=CA1479993738ADH7c.825+17G= (n.825+17G=)
c.861+17G= (n.861+17G=)
c.885+17G= (n.885+17G=)
c.654+17G= (n.654+17G=)
4g.99420516C>GCA1479993739ADH7c.825+17G>C (n.825+17G>C)
c.861+17G>C (n.861+17G>C)
c.885+17G>C (n.885+17G>C)
c.654+17G>C (n.654+17G>C)
 dbSNP
4g.99420516C>TCA3020716ADH7c.825+17G>A (n.825+17G>A)
c.861+17G>A (n.861+17G>A)
c.885+17G>A (n.885+17G>A)
c.654+17G>A (n.654+17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420517A=CA1479993742ADH7c.825+16T= (n.825+16T=)
c.861+16T= (n.861+16T=)
c.885+16T= (n.885+16T=)
c.654+16T= (n.654+16T=)
4g.99420517A>CCA553568136ADH7c.825+16T>G (n.825+16T>G)
c.861+16T>G (n.861+16T>G)
c.885+16T>G (n.885+16T>G)
c.654+16T>G (n.654+16T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99420517A>GCA2671525101ADH7c.825+16T>C (n.825+16T>C)
c.861+16T>C (n.861+16T>C)
c.885+16T>C (n.885+16T>C)
c.654+16T>C (n.654+16T>C)
 gnomAD v4
4g.99420517A>TCA3020717ADH7c.825+16T>A (n.825+16T>A)
c.861+16T>A (n.861+16T>A)
c.885+16T>A (n.885+16T>A)
c.654+16T>A (n.654+16T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420521T>ACA553568138ADH7c.825+12A>T (n.825+12A>T)
c.861+12A>T (n.861+12A>T)
c.885+12A>T (n.885+12A>T)
c.654+12A>T (n.654+12A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99420521T=CA1479993744ADH7c.825+12A= (n.825+12A=)
c.861+12A= (n.861+12A=)
c.885+12A= (n.885+12A=)
c.654+12A= (n.654+12A=)
4g.99420522T>ACA800741822ADH7c.825+11A>T (n.825+11A>T)
c.861+11A>T (n.861+11A>T)
c.885+11A>T (n.885+11A>T)
c.654+11A>T (n.654+11A>T)
 dbSNP
4g.99420522T>CCA3020718ADH7c.825+11A>G (n.825+11A>G)
c.861+11A>G (n.861+11A>G)
c.885+11A>G (n.885+11A>G)
c.654+11A>G (n.654+11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420522T=CA1479993746ADH7c.825+11A= (n.825+11A=)
c.861+11A= (n.861+11A=)
c.885+11A= (n.885+11A=)
c.654+11A= (n.654+11A=)
4g.99420523T>ACA2671525102ADH7c.825+10A>T (n.825+10A>T)
c.861+10A>T (n.861+10A>T)
c.885+10A>T (n.885+10A>T)
c.654+10A>T (n.654+10A>T)
 gnomAD v4
4g.99420523_99420524delinsTGCA1479993748ADH7c.825+9_825+10delinsCA (n.825+9_825+10delinsCA)
c.861+9_861+10delinsCA (n.861+9_861+10delinsCA)
c.885+9_885+10delinsCA (n.885+9_885+10delinsCA)
c.654+9_654+10delinsCA (n.654+9_654+10delinsCA)
4g.99420524G>ACA2671525103ADH7c.825+9C>T (n.825+9C>T)
c.861+9C>T (n.861+9C>T)
c.885+9C>T (n.885+9C>T)
c.654+9C>T (n.654+9C>T)
 gnomAD v4
4g.99420524G=CA1479993751ADH7c.825+9C= (n.825+9C=)
c.861+9C= (n.861+9C=)
c.885+9C= (n.885+9C=)
c.654+9C= (n.654+9C=)
4g.99420524G>TCA3020719ADH7c.825+9C>A (n.825+9C>A)
c.861+9C>A (n.861+9C>A)
c.885+9C>A (n.885+9C>A)
c.654+9C>A (n.654+9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420526delCA1479993750ADH7c.825+9del (n.825+9del)
c.861+9del (n.861+9del)
c.885+9del (n.885+9del)
c.654+9del (n.654+9del)
 dbSNP
4g.99420526G>ACA2570849168ADH7c.825+7C>T (n.825+7C>T)
c.861+7C>T (n.861+7C>T)
c.885+7C>T (n.885+7C>T)
c.654+7C>T (n.654+7C>T)
4g.99420526G>CCA3020720ADH7c.825+7C>G (n.825+7C>G)
c.861+7C>G (n.861+7C>G)
c.885+7C>G (n.885+7C>G)
c.654+7C>G (n.654+7C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420526G=CA1479993754ADH7c.825+7C= (n.825+7C=)
c.861+7C= (n.861+7C=)
c.885+7C= (n.885+7C=)
c.654+7C= (n.654+7C=)
4g.99420526G>TCA2671525104ADH7c.825+7C>A (n.825+7C>A)
c.861+7C>A (n.861+7C>A)
c.885+7C>A (n.885+7C>A)
c.654+7C>A (n.654+7C>A)
 gnomAD v4
4g.99420527T>ACA3020721ADH7c.825+6A>T (n.825+6A>T)
c.861+6A>T (n.861+6A>T)
c.885+6A>T (n.885+6A>T)
c.654+6A>T (n.654+6A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420527T>GCA2671525105ADH7c.825+6A>C (n.825+6A>C)
c.861+6A>C (n.861+6A>C)
c.885+6A>C (n.885+6A>C)
c.654+6A>C (n.654+6A>C)
 gnomAD v4
4g.99420527T=CA1479993756ADH7c.825+6A= (n.825+6A=)
c.861+6A= (n.861+6A=)
c.885+6A= (n.885+6A=)
c.654+6A= (n.654+6A=)
4g.99420528C>ACA2671525106ADH7c.825+5G>T (n.825+5G>T)
c.861+5G>T (n.861+5G>T)
c.885+5G>T (n.885+5G>T)
c.654+5G>T (n.654+5G>T)
 gnomAD v4
4g.99420528C=CA1479993760ADH7c.825+5G= (n.825+5G=)
c.861+5G= (n.861+5G=)
c.885+5G= (n.885+5G=)
c.654+5G= (n.654+5G=)
4g.99420528C>TCA3020722ADH7c.825+5G>A (n.825+5G>A)
c.861+5G>A (n.861+5G>A)
c.885+5G>A (n.885+5G>A)
c.654+5G>A (n.654+5G>A)
 dbSNP ExAC
4g.99420529T>CCA102645737ADH7c.825+4A>G (n.825+4A>G)
c.861+4A>G (n.861+4A>G)
c.885+4A>G (n.885+4A>G)
c.654+4A>G (n.654+4A>G)
 dbSNP gnomAD v4
4g.99420529T=CA1479993762ADH7c.825+4A= (n.825+4A=)
c.861+4A= (n.861+4A=)
c.885+4A= (n.885+4A=)
c.654+4A= (n.654+4A=)
4g.99420531A>CCA357497340ADH7c.825+2T>G (n.825+2T>G)
c.861+2T>G (n.861+2T>G)
c.885+2T>G (n.885+2T>G)
c.654+2T>G (n.654+2T>G)
4g.99420531A>GCA357497339ADH7c.825+2T>C (n.825+2T>C)
c.861+2T>C (n.861+2T>C)
c.885+2T>C (n.885+2T>C)
c.654+2T>C (n.654+2T>C)
4g.99420531A>TCA357497341ADH7c.825+2T>A (n.825+2T>A)
c.861+2T>A (n.861+2T>A)
c.885+2T>A (n.885+2T>A)
c.654+2T>A (n.654+2T>A)
4g.99420532C>ACA357497342ADH7c.825+1G>T (n.825+1G>T)
c.861+1G>T (n.861+1G>T)
c.885+1G>T (n.885+1G>T)
c.654+1G>T (n.654+1G>T)
 dbSNP gnomAD v4
4g.99420532C=CA1479993764ADH7c.825+1G= (n.825+1G=)
c.861+1G= (n.861+1G=)
c.885+1G= (n.885+1G=)
c.654+1G= (n.654+1G=)
4g.99420532C>GCA357497343ADH7c.825+1G>C (n.825+1G>C)
c.861+1G>C (n.861+1G>C)
c.885+1G>C (n.885+1G>C)
c.654+1G>C (n.654+1G>C)
4g.99420532C>TCA102645738ADH7c.825+1G>A (n.825+1G>A)
c.861+1G>A (n.861+1G>A)
c.885+1G>A (n.885+1G>A)
c.654+1G>A (n.654+1G>A)
 dbSNP gnomAD v4
4g.99420533C>ACA102645742ADH7c.825G>T (p.Met275Ile)
c.861G>T (p.Met287Ile)
c.885G>T (p.Met295Ile)
c.654G>T (p.Met218Ile)
 dbSNP gnomAD v4
4g.99420533C=CA1479993767ADH7c.825G= (p.Met275=)
c.861G= (p.Met287=)
c.885G= (p.Met295=)
c.654G= (p.Met218=)
4g.99420533C>GCA357497344ADH7c.825G>C (p.Met275Ile)
c.861G>C (p.Met287Ile)
c.885G>C (p.Met295Ile)
c.654G>C (p.Met218Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.99420533C>TCA357497345ADH7c.825G>A (p.Met275Ile)
c.861G>A (p.Met287Ile)
c.885G>A (p.Met295Ile)
c.654G>A (p.Met218Ile)
4g.99420533_99420545delinsCATGGTTTCAAGACA1479993766ADH7c.813_825delinsTCTTGAAACCATG (p.His271=)
c.849_861delinsTCTTGAAACCATG (p.His283=)
c.873_885delinsTCTTGAAACCATG (p.His291=)
c.642_654delinsTCTTGAAACCATG (p.His214=)
4g.99420534A=CA1479993772ADH7c.824T= (p.Met275=)
c.860T= (p.Met287=)
c.884T= (p.Met295=)
c.653T= (p.Met218=)
4g.99420534A>CCA357497346ADH7c.824T>G (p.Met275Arg)
c.860T>G (p.Met287Arg)
c.884T>G (p.Met295Arg)
c.653T>G (p.Met218Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.99420534A>GCA3020724ADH7c.824T>C (p.Met275Thr)
c.860T>C (p.Met287Thr)
c.884T>C (p.Met295Thr)
c.653T>C (p.Met218Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420534A>TCA357497347ADH7c.824T>A (p.Met275Lys)
c.860T>A (p.Met287Lys)
c.884T>A (p.Met295Lys)
c.653T>A (p.Met218Lys)
4g.99420534_99420545delCA3020723ADH7c.813_824del (p.His271_Met275delinsGln)
c.849_860del (p.His283_Met287delinsGln)
c.873_884del (p.His291_Met295delinsGln)
c.642_653del (p.His214_Met218delinsGln)
 dbSNP ExAC gnomAD v4
4g.99420535T>ACA357497348ADH7c.823A>T (p.Met275Leu)
c.859A>T (p.Met287Leu)
c.883A>T (p.Met295Leu)
c.652A>T (p.Met218Leu)
4g.99420535T>CCA357497349ADH7c.823A>G (p.Met275Val)
c.859A>G (p.Met287Val)
c.883A>G (p.Met295Val)
c.652A>G (p.Met218Val)
 dbSNP gnomAD v3 gnomAD v4
4g.99420535T>GCA357497350ADH7c.823A>C (p.Met275Leu)
c.859A>C (p.Met287Leu)
c.883A>C (p.Met295Leu)
c.652A>C (p.Met218Leu)
 dbSNP
4g.99420535T=CA1479993774ADH7c.823A= (p.Met275=)
c.859A= (p.Met287=)
c.883A= (p.Met295=)
c.652A= (p.Met218=)
4g.99420536G>ACA440506350ADH7c.822C>T (p.Thr274=)
c.858C>T (p.Thr286=)
c.882C>T (p.Thr294=)
c.651C>T (p.Thr217=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420536G>CCA440506351ADH7c.822C>G (p.Thr274=)
c.858C>G (p.Thr286=)
c.882C>G (p.Thr294=)
c.651C>G (p.Thr217=)
4g.99420536G=CA1479993775ADH7c.822C= (p.Thr274=)
c.858C= (p.Thr286=)
c.882C= (p.Thr294=)
c.651C= (p.Thr217=)
4g.99420536G>TCA440506352ADH7c.822C>A (p.Thr274=)
c.858C>A (p.Thr286=)
c.882C>A (p.Thr294=)
c.651C>A (p.Thr217=)
4g.99420537G>ACA357497351ADH7c.821C>T (p.Thr274Ile)
c.857C>T (p.Thr286Ile)
c.881C>T (p.Thr294Ile)
c.650C>T (p.Thr217Ile)
 gnomAD v4
4g.99420537G>CCA357497352ADH7c.821C>G (p.Thr274Ser)
c.857C>G (p.Thr286Ser)
c.881C>G (p.Thr294Ser)
c.650C>G (p.Thr217Ser)
 dbSNP
4g.99420537G=CA1479993779ADH7c.821C= (p.Thr274=)
c.857C= (p.Thr286=)
c.881C= (p.Thr294=)
c.650C= (p.Thr217=)
4g.99420537G>TCA357497353ADH7c.821C>A (p.Thr274Asn)
c.857C>A (p.Thr286Asn)
c.881C>A (p.Thr294Asn)
c.650C>A (p.Thr217Asn)
4g.99420538T>ACA357497354ADH7c.820A>T (p.Thr274Ser)
c.856A>T (p.Thr286Ser)
c.880A>T (p.Thr294Ser)
c.649A>T (p.Thr217Ser)
4g.99420538T>CCA357497356ADH7c.820A>G (p.Thr274Ala)
c.856A>G (p.Thr286Ala)
c.880A>G (p.Thr294Ala)
c.649A>G (p.Thr217Ala)
4g.99420538T>GCA357497355ADH7c.820A>C (p.Thr274Pro)
c.856A>C (p.Thr286Pro)
c.880A>C (p.Thr294Pro)
c.649A>C (p.Thr217Pro)
4g.99420539T>ACA357497357ADH7c.819A>T (p.Glu273Asp)
c.855A>T (p.Glu285Asp)
c.879A>T (p.Glu293Asp)
c.648A>T (p.Glu216Asp)
4g.99420539T>CCA440506353ADH7c.819A>G (p.Glu273=)
c.855A>G (p.Glu285=)
c.879A>G (p.Glu293=)
c.648A>G (p.Glu216=)
4g.99420539T>GCA357497358ADH7c.819A>C (p.Glu273Asp)
c.855A>C (p.Glu285Asp)
c.879A>C (p.Glu293Asp)
c.648A>C (p.Glu216Asp)
4g.99420540T>ACA357497359ADH7c.818A>T (p.Glu273Val)
c.854A>T (p.Glu285Val)
c.878A>T (p.Glu293Val)
c.647A>T (p.Glu216Val)
4g.99420540T>CCA357497360ADH7c.818A>G (p.Glu273Gly)
c.854A>G (p.Glu285Gly)
c.878A>G (p.Glu293Gly)
c.647A>G (p.Glu216Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420540T>GCA357497361ADH7c.818A>C (p.Glu273Ala)
c.854A>C (p.Glu285Ala)
c.878A>C (p.Glu293Ala)
c.647A>C (p.Glu216Ala)
4g.99420540T=CA1479993783ADH7c.818A= (p.Glu273=)
c.854A= (p.Glu285=)
c.878A= (p.Glu293=)
c.647A= (p.Glu216=)
4g.99420541C>ACA357497362ADH7c.817G>T (p.Glu273Ter)
c.853G>T (p.Glu285Ter)
c.877G>T (p.Glu293Ter)
c.646G>T (p.Glu216Ter)
4g.99420541C=CA1479993785ADH7c.817G= (p.Glu273=)
c.853G= (p.Glu285=)
c.877G= (p.Glu293=)
c.646G= (p.Glu216=)
4g.99420541C>GCA357497363ADH7c.817G>C (p.Glu273Gln)
c.853G>C (p.Glu285Gln)
c.877G>C (p.Glu293Gln)
c.646G>C (p.Glu216Gln)
4g.99420541C>TCA357497364ADH7c.817G>A (p.Glu273Lys)
c.853G>A (p.Glu285Lys)
c.877G>A (p.Glu293Lys)
c.646G>A (p.Glu216Lys)
 dbSNP gnomAD v4
4g.99420542A>CCA440506354ADH7c.816T>G (p.Leu272=)
c.852T>G (p.Leu284=)
c.876T>G (p.Leu292=)
c.645T>G (p.Leu215=)
4g.99420542A>GCA440506355ADH7c.816T>C (p.Leu272=)
c.852T>C (p.Leu284=)
c.876T>C (p.Leu292=)
c.645T>C (p.Leu215=)
4g.99420542A>TCA440506356ADH7c.816T>A (p.Leu272=)
c.852T>A (p.Leu284=)
c.876T>A (p.Leu292=)
c.645T>A (p.Leu215=)
 gnomAD v4
4g.99420543A=CA1479993789ADH7c.815T= (p.Leu272=)
c.851T= (p.Leu284=)
c.875T= (p.Leu292=)
c.644T= (p.Leu215=)
4g.99420543A>CCA357497365ADH7c.815T>G (p.Leu272Arg)
c.851T>G (p.Leu284Arg)
c.875T>G (p.Leu292Arg)
c.644T>G (p.Leu215Arg)
4g.99420543A>GCA3020725ADH7c.815T>C (p.Leu272Pro)
c.851T>C (p.Leu284Pro)
c.875T>C (p.Leu292Pro)
c.644T>C (p.Leu215Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420543A>TCA357497366ADH7c.815T>A (p.Leu272His)
c.851T>A (p.Leu284His)
c.875T>A (p.Leu292His)
c.644T>A (p.Leu215His)
4g.99420544G>ACA357497369ADH7c.814C>T (p.Leu272Phe)
c.850C>T (p.Leu284Phe)
c.874C>T (p.Leu292Phe)
c.643C>T (p.Leu215Phe)
4g.99420544G>CCA357497368ADH7c.814C>G (p.Leu272Val)
c.850C>G (p.Leu284Val)
c.874C>G (p.Leu292Val)
c.643C>G (p.Leu215Val)
 gnomAD v4
4g.99420544G>TCA357497367ADH7c.814C>A (p.Leu272Ile)
c.850C>A (p.Leu284Ile)
c.874C>A (p.Leu292Ile)
c.643C>A (p.Leu215Ile)
4g.99420545A>CCA357497371ADH7c.813T>G (p.His271Gln)
c.849T>G (p.His283Gln)
c.873T>G (p.His291Gln)
c.642T>G (p.His214Gln)
4g.99420545A>GCA440506357ADH7c.813T>C (p.His271=)
c.849T>C (p.His283=)
c.873T>C (p.His291=)
c.642T>C (p.His214=)
4g.99420545A>TCA357497370ADH7c.813T>A (p.His271Gln)
c.849T>A (p.His283Gln)
c.873T>A (p.His291Gln)
c.642T>A (p.His214Gln)
4g.99420546T>ACA357497372ADH7c.812A>T (p.His271Leu)
c.848A>T (p.His283Leu)
c.872A>T (p.His291Leu)
c.641A>T (p.His214Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.99420546T>CCA3020726ADH7c.812A>G (p.His271Arg)
c.848A>G (p.His283Arg)
c.872A>G (p.His291Arg)
c.641A>G (p.His214Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420546T>GCA357497373ADH7c.812A>C (p.His271Pro)
c.848A>C (p.His283Pro)
c.872A>C (p.His291Pro)
c.641A>C (p.His214Pro)
4g.99420546T=CA1479993795ADH7c.812A= (p.His271=)
c.848A= (p.His283=)
c.872A= (p.His291=)
c.641A= (p.His214=)
4g.99420546_99420547insAACTTCA2671525107ADH7c.812_813insAGTTA (p.His271GlnfsTer7)
c.848_849insAGTTA (p.His283GlnfsTer7)
c.872_873insAGTTA (p.His291GlnfsTer7)
c.641_642insAGTTA (p.His214GlnfsTer7)
 gnomAD v4
4g.99420547G>ACA357497374ADH7c.811C>T (p.His271Tyr)
c.847C>T (p.His283Tyr)
c.871C>T (p.His291Tyr)
c.640C>T (p.His214Tyr)
4g.99420547G>CCA357497375ADH7c.811C>G (p.His271Asp)
c.847C>G (p.His283Asp)
c.871C>G (p.His291Asp)
c.640C>G (p.His214Asp)
4g.99420547G>TCA357497376ADH7c.811C>A (p.His271Asn)
c.847C>A (p.His283Asn)
c.871C>A (p.His291Asn)
c.640C>A (p.His214Asn)
4g.99420547_99420548insAAACA2671525108ADH7c.810_811insTTT (p.Gly270_His271insPhe)
c.846_847insTTT (p.Gly282_His283insPhe)
c.870_871insTTT (p.Gly290_His291insPhe)
c.639_640insTTT (p.Gly213_His214insPhe)
 gnomAD v4
4g.99420548C>ACA3020727ADH7c.810G>T (p.Gly270=)
c.846G>T (p.Gly282=)
c.870G>T (p.Gly290=)
c.639G>T (p.Gly213=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420548C=CA1479993804ADH7c.810G= (p.Gly270=)
c.846G= (p.Gly282=)
c.870G= (p.Gly290=)
c.639G= (p.Gly213=)
4g.99420548C>GCA440506358ADH7c.810G>C (p.Gly270=)
c.846G>C (p.Gly282=)
c.870G>C (p.Gly290=)
c.639G>C (p.Gly213=)
4g.99420548C>TCA102645774ADH7c.810G>A (p.Gly270=)
c.846G>A (p.Gly282=)
c.870G>A (p.Gly290=)
c.639G>A (p.Gly213=)
 dbSNP gnomAD v4
4g.99420549C>ACA357497377ADH7c.809G>T (p.Gly270Val)
c.845G>T (p.Gly282Val)
c.869G>T (p.Gly290Val)
c.638G>T (p.Gly213Val)
4g.99420549C>GCA357497378ADH7c.809G>C (p.Gly270Ala)
c.845G>C (p.Gly282Ala)
c.869G>C (p.Gly290Ala)
c.638G>C (p.Gly213Ala)
4g.99420549C>TCA357497379ADH7c.809G>A (p.Gly270Glu)
c.845G>A (p.Gly282Glu)
c.869G>A (p.Gly290Glu)
c.638G>A (p.Gly213Glu)
 gnomAD v4
4g.99420550C>ACA357497380ADH7c.808G>T (p.Gly270Trp)
c.844G>T (p.Gly282Trp)
c.868G>T (p.Gly290Trp)
c.637G>T (p.Gly213Trp)
4g.99420550C>GCA357497381ADH7c.808G>C (p.Gly270Arg)
c.844G>C (p.Gly282Arg)
c.868G>C (p.Gly290Arg)
c.637G>C (p.Gly213Arg)
4g.99420550C>TCA357497382ADH7c.808G>A (p.Gly270Arg)
c.844G>A (p.Gly282Arg)
c.868G>A (p.Gly290Arg)
c.637G>A (p.Gly213Arg)
4g.99420551A>CCA357497383ADH7c.807T>G (p.Ile269Met)
c.843T>G (p.Ile281Met)
c.867T>G (p.Ile289Met)
c.636T>G (p.Ile212Met)
4g.99420551A>GCA440506360ADH7c.807T>C (p.Ile269=)
c.843T>C (p.Ile281=)
c.867T>C (p.Ile289=)
c.636T>C (p.Ile212=)
4g.99420551A>TCA440506359ADH7c.807T>A (p.Ile269=)
c.843T>A (p.Ile281=)
c.867T>A (p.Ile289=)
c.636T>A (p.Ile212=)
4g.99420552A=CA1479993805ADH7c.806T= (p.Ile269=)
c.842T= (p.Ile281=)
c.866T= (p.Ile289=)
c.635T= (p.Ile212=)
4g.99420552A>CCA357497384ADH7c.806T>G (p.Ile269Ser)
c.842T>G (p.Ile281Ser)
c.866T>G (p.Ile289Ser)
c.635T>G (p.Ile212Ser)
4g.99420552A>GCA3020728ADH7c.806T>C (p.Ile269Thr)
c.842T>C (p.Ile281Thr)
c.866T>C (p.Ile289Thr)
c.635T>C (p.Ile212Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420552A>TCA357497385ADH7c.806T>A (p.Ile269Asn)
c.842T>A (p.Ile281Asn)
c.866T>A (p.Ile289Asn)
c.635T>A (p.Ile212Asn)
4g.99420553T>ACA357497386ADH7c.805A>T (p.Ile269Phe)
c.841A>T (p.Ile281Phe)
c.865A>T (p.Ile289Phe)
c.634A>T (p.Ile212Phe)
4g.99420553T>CCA357497387ADH7c.805A>G (p.Ile269Val)
c.841A>G (p.Ile281Val)
c.865A>G (p.Ile289Val)
c.634A>G (p.Ile212Val)
 dbSNP gnomAD v4
4g.99420553T>GCA357497388ADH7c.805A>C (p.Ile269Leu)
c.841A>C (p.Ile281Leu)
c.865A>C (p.Ile289Leu)
c.634A>C (p.Ile212Leu)
4g.99420553T=CA1479993807ADH7c.805A= (p.Ile269=)
c.841A= (p.Ile281=)
c.865A= (p.Ile289=)
c.634A= (p.Ile212=)
4g.99420554A>CCA440506361ADH7c.804T>G (p.Val268=)
c.840T>G (p.Val280=)
c.864T>G (p.Val288=)
c.633T>G (p.Val211=)
4g.99420554A>GCA440506362ADH7c.804T>C (p.Val268=)
c.840T>C (p.Val280=)
c.864T>C (p.Val288=)
c.633T>C (p.Val211=)
4g.99420554A>TCA440506363ADH7c.804T>A (p.Val268=)
c.840T>A (p.Val280=)
c.864T>A (p.Val288=)
c.633T>A (p.Val211=)
4g.99420555A>CCA357497389ADH7c.803T>G (p.Val268Gly)
c.839T>G (p.Val280Gly)
c.863T>G (p.Val288Gly)
c.632T>G (p.Val211Gly)
4g.99420555A>GCA357497390ADH7c.803T>C (p.Val268Ala)
c.839T>C (p.Val280Ala)
c.863T>C (p.Val288Ala)
c.632T>C (p.Val211Ala)
4g.99420555A>TCA357497391ADH7c.803T>A (p.Val268Asp)
c.839T>A (p.Val280Asp)
c.863T>A (p.Val288Asp)
c.632T>A (p.Val211Asp)
 gnomAD v4
4g.99420556C>ACA357497392ADH7c.802G>T (p.Val268Phe)
c.838G>T (p.Val280Phe)
c.862G>T (p.Val288Phe)
c.631G>T (p.Val211Phe)
4g.99420556C=CA1479993808ADH7c.802G= (p.Val268=)
c.838G= (p.Val280=)
c.862G= (p.Val288=)
c.631G= (p.Val211=)
4g.99420556C>GCA357497393ADH7c.802G>C (p.Val268Leu)
c.838G>C (p.Val280Leu)
c.862G>C (p.Val288Leu)
c.631G>C (p.Val211Leu)
4g.99420556C>TCA357497394ADH7c.802G>A (p.Val268Ile)
c.838G>A (p.Val280Ile)
c.862G>A (p.Val288Ile)
c.631G>A (p.Val211Ile)
 dbSNP gnomAD v4
4g.99420557T>ACA357497395ADH7c.801A>T (p.Glu267Asp)
c.837A>T (p.Glu279Asp)
c.861A>T (p.Glu287Asp)
c.630A>T (p.Glu210Asp)
4g.99420557T>CCA440506364ADH7c.801A>G (p.Glu267=)
c.837A>G (p.Glu279=)
c.861A>G (p.Glu287=)
c.630A>G (p.Glu210=)
4g.99420557T>GCA357497396ADH7c.801A>C (p.Glu267Asp)
c.837A>C (p.Glu279Asp)
c.861A>C (p.Glu287Asp)
c.630A>C (p.Glu210Asp)
4g.99420558T>ACA357497398ADH7c.800A>T (p.Glu267Val)
c.836A>T (p.Glu279Val)
c.860A>T (p.Glu287Val)
c.629A>T (p.Glu210Val)
4g.99420558T>CCA357497399ADH7c.800A>G (p.Glu267Gly)
c.836A>G (p.Glu279Gly)
c.860A>G (p.Glu287Gly)
c.629A>G (p.Glu210Gly)
4g.99420558T>GCA357497397ADH7c.800A>C (p.Glu267Ala)
c.836A>C (p.Glu279Ala)
c.860A>C (p.Glu287Ala)
c.629A>C (p.Glu210Ala)
4g.99420560_99420570delCA2578151625ADH7c.790_800del (p.Tyr264SerfsTer6)
c.826_836del (p.Tyr276SerfsTer6)
c.850_860del (p.Tyr284SerfsTer6)
c.619_629del (p.Tyr207SerfsTer6)
4g.99420559C>ACA357497400ADH7c.799G>T (p.Glu267Ter)
c.835G>T (p.Glu279Ter)
c.859G>T (p.Glu287Ter)
c.628G>T (p.Glu210Ter)
4g.99420559C>GCA357497402ADH7c.799G>C (p.Glu267Gln)
c.835G>C (p.Glu279Gln)
c.859G>C (p.Glu287Gln)
c.628G>C (p.Glu210Gln)
4g.99420559C>TCA357497401ADH7c.799G>A (p.Glu267Lys)
c.835G>A (p.Glu279Lys)
c.859G>A (p.Glu287Lys)
c.628G>A (p.Glu210Lys)
4g.99420560A>CCA357497403ADH7c.798T>G (p.Phe266Leu)
c.834T>G (p.Phe278Leu)
c.858T>G (p.Phe286Leu)
c.627T>G (p.Phe209Leu)
4g.99420560A>GCA440506366ADH7c.798T>C (p.Phe266=)
c.834T>C (p.Phe278=)
c.858T>C (p.Phe286=)
c.627T>C (p.Phe209=)
4g.99420560A>TCA357497404ADH7c.798T>A (p.Phe266Leu)
c.834T>A (p.Phe278Leu)
c.858T>A (p.Phe286Leu)
c.627T>A (p.Phe209Leu)
4g.99420561A>CCA357497405ADH7c.797T>G (p.Phe266Cys)
c.833T>G (p.Phe278Cys)
c.857T>G (p.Phe286Cys)
c.626T>G (p.Phe209Cys)
4g.99420561A>GCA357497406ADH7c.797T>C (p.Phe266Ser)
c.833T>C (p.Phe278Ser)
c.857T>C (p.Phe286Ser)
c.626T>C (p.Phe209Ser)
 gnomAD v4
4g.99420561A>TCA357497407ADH7c.797T>A (p.Phe266Tyr)
c.833T>A (p.Phe278Tyr)
c.857T>A (p.Phe286Tyr)
c.626T>A (p.Phe209Tyr)
4g.99420562A=CA1479994020ADH7c.796T= (p.Phe266=)
c.832T= (p.Phe278=)
c.856T= (p.Phe286=)
c.625T= (p.Phe209=)
4g.99420562A>CCA357497408ADH7c.796T>G (p.Phe266Val)
c.832T>G (p.Phe278Val)
c.856T>G (p.Phe286Val)
c.625T>G (p.Phe209Val)
4g.99420562A>GCA357497409ADH7c.796T>C (p.Phe266Leu)
c.832T>C (p.Phe278Leu)
c.856T>C (p.Phe286Leu)
c.625T>C (p.Phe209Leu)
 dbSNP
4g.99420562A>TCA102645792ADH7c.796T>A (p.Phe266Ile)
c.832T>A (p.Phe278Ile)
c.856T>A (p.Phe286Ile)
c.625T>A (p.Phe209Ile)
 dbSNP gnomAD v4
4g.99420563G>ACA440506367ADH7c.795C>T (p.Thr265=)
c.831C>T (p.Thr277=)
c.855C>T (p.Thr285=)
c.624C>T (p.Thr208=)
 dbSNP
4g.99420563G>CCA440506368ADH7c.795C>G (p.Thr265=)
c.831C>G (p.Thr277=)
c.855C>G (p.Thr285=)
c.624C>G (p.Thr208=)
4g.99420563G=CA1479994022ADH7c.795C= (p.Thr265=)
c.831C= (p.Thr277=)
c.855C= (p.Thr285=)
c.624C= (p.Thr208=)
4g.99420563G>TCA440506369ADH7c.795C>A (p.Thr265=)
c.831C>A (p.Thr277=)
c.855C>A (p.Thr285=)
c.624C>A (p.Thr208=)
 gnomAD v4
4g.99420564G>ACA357497410ADH7c.794C>T (p.Thr265Ile)
c.830C>T (p.Thr277Ile)
c.854C>T (p.Thr285Ile)
c.623C>T (p.Thr208Ile)
 dbSNP gnomAD v4
4g.99420564G>CCA357497411ADH7c.794C>G (p.Thr265Ser)
c.830C>G (p.Thr277Ser)
c.854C>G (p.Thr285Ser)
c.623C>G (p.Thr208Ser)
4g.99420564G=CA1479994027ADH7c.794C= (p.Thr265=)
c.830C= (p.Thr277=)
c.854C= (p.Thr285=)
c.623C= (p.Thr208=)
4g.99420564G>TCA357497412ADH7c.794C>A (p.Thr265Asn)
c.830C>A (p.Thr277Asn)
c.854C>A (p.Thr285Asn)
c.623C>A (p.Thr208Asn)
 dbSNP
4g.99420565T>ACA357497415ADH7c.793A>T (p.Thr265Ser)
c.829A>T (p.Thr277Ser)
c.853A>T (p.Thr285Ser)
c.622A>T (p.Thr208Ser)
4g.99420565T>CCA357497413ADH7c.793A>G (p.Thr265Ala)
c.829A>G (p.Thr277Ala)
c.853A>G (p.Thr285Ala)
c.622A>G (p.Thr208Ala)
 gnomAD v4 COSMIC COSMIC
4g.99420565T>GCA357497414ADH7c.793A>C (p.Thr265Pro)
c.829A>C (p.Thr277Pro)
c.853A>C (p.Thr285Pro)
c.622A>C (p.Thr208Pro)
 gnomAD v4
4g.99420566delCA440506371ADH7c.792del (p.Tyr264Ter)
c.828del (p.Tyr276Ter)
c.852del (p.Tyr284Ter)
c.621del (p.Tyr207Ter)
 gnomAD v4
4g.99420566G>ACA440506370ADH7c.792C>T (p.Tyr264=)
c.828C>T (p.Tyr276=)
c.852C>T (p.Tyr284=)
c.621C>T (p.Tyr207=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420566G>CCA357497416ADH7c.792C>G (p.Tyr264Ter)
c.828C>G (p.Tyr276Ter)
c.852C>G (p.Tyr284Ter)
c.621C>G (p.Tyr207Ter)
4g.99420566G=CA1479994030ADH7c.792C= (p.Tyr264=)
c.828C= (p.Tyr276=)
c.852C= (p.Tyr284=)
c.621C= (p.Tyr207=)
4g.99420566G>TCA357497417ADH7c.792C>A (p.Tyr264Ter)
c.828C>A (p.Tyr276Ter)
c.852C>A (p.Tyr284Ter)
c.621C>A (p.Tyr207Ter)
4g.99420567T>ACA357497418ADH7c.791A>T (p.Tyr264Phe)
c.827A>T (p.Tyr276Phe)
c.851A>T (p.Tyr284Phe)
c.620A>T (p.Tyr207Phe)
4g.99420567T>CCA357497419ADH7c.791A>G (p.Tyr264Cys)
c.827A>G (p.Tyr276Cys)
c.851A>G (p.Tyr284Cys)
c.620A>G (p.Tyr207Cys)
4g.99420567T>GCA357497420ADH7c.791A>C (p.Tyr264Ser)
c.827A>C (p.Tyr276Ser)
c.851A>C (p.Tyr284Ser)
c.620A>C (p.Tyr207Ser)
4g.99420568A=CA1479994033ADH7c.790T= (p.Tyr264=)
c.826T= (p.Tyr276=)
c.850T= (p.Tyr284=)
c.619T= (p.Tyr207=)
4g.99420568A>CCA357497421ADH7c.790T>G (p.Tyr264Asp)
c.826T>G (p.Tyr276Asp)
c.850T>G (p.Tyr284Asp)
c.619T>G (p.Tyr207Asp)
4g.99420568A>GCA357497422ADH7c.790T>C (p.Tyr264His)
c.826T>C (p.Tyr276His)
c.850T>C (p.Tyr284His)
c.619T>C (p.Tyr207His)
 dbSNP gnomAD v3 gnomAD v4
4g.99420568A>TCA357497423ADH7c.790T>A (p.Tyr264Asn)
c.826T>A (p.Tyr276Asn)
c.850T>A (p.Tyr284Asn)
c.619T>A (p.Tyr207Asn)
4g.99420569T>ACA440506372ADH7c.789A>T (p.Gly263=)
c.825A>T (p.Gly275=)
c.849A>T (p.Gly283=)
c.618A>T (p.Gly206=)
 gnomAD v4
4g.99420569T>CCA440506373ADH7c.789A>G (p.Gly263=)
c.825A>G (p.Gly275=)
c.849A>G (p.Gly283=)
c.618A>G (p.Gly206=)
4g.99420569T>GCA440506374ADH7c.789A>C (p.Gly263=)
c.825A>C (p.Gly275=)
c.849A>C (p.Gly283=)
c.618A>C (p.Gly206=)
4g.99420570C>ACA357497424ADH7c.788G>T (p.Gly263Val)
c.824G>T (p.Gly275Val)
c.848G>T (p.Gly283Val)
c.617G>T (p.Gly206Val)
 dbSNP gnomAD v2 gnomAD v4
4g.99420570C=CA1479994041ADH7c.788G= (p.Gly263=)
c.824G= (p.Gly275=)
c.848G= (p.Gly283=)
c.617G= (p.Gly206=)
4g.99420570C>GCA357497425ADH7c.788G>C (p.Gly263Ala)
c.824G>C (p.Gly275Ala)
c.848G>C (p.Gly283Ala)
c.617G>C (p.Gly206Ala)
4g.99420570C>TCA102645794ADH7c.788G>A (p.Gly263Glu)
c.824G>A (p.Gly275Glu)
c.848G>A (p.Gly283Glu)
c.617G>A (p.Gly206Glu)
 dbSNP COSMIC COSMIC
4g.99420571C>ACA357497427ADH7c.787G>T (p.Gly263Ter)
c.823G>T (p.Gly275Ter)
c.847G>T (p.Gly283Ter)
c.616G>T (p.Gly206Ter)
4g.99420571C>GCA357497428ADH7c.787G>C (p.Gly263Arg)
c.823G>C (p.Gly275Arg)
c.847G>C (p.Gly283Arg)
c.616G>C (p.Gly206Arg)
4g.99420571C>TCA357497426ADH7c.787G>A (p.Gly263Arg)
c.823G>A (p.Gly275Arg)
c.847G>A (p.Gly283Arg)
c.616G>A (p.Gly206Arg)
4g.99420572C>ACA440506377ADH7c.786G>T (p.Val262=)
c.822G>T (p.Val274=)
c.846G>T (p.Val282=)
c.615G>T (p.Val205=)
4g.99420572C=CA1479994044ADH7c.786G= (p.Val262=)
c.822G= (p.Val274=)
c.846G= (p.Val282=)
c.615G= (p.Val205=)
4g.99420572C>GCA440506376ADH7c.786G>C (p.Val262=)
c.822G>C (p.Val274=)
c.846G>C (p.Val282=)
c.615G>C (p.Val205=)
4g.99420572C>TCA440506375ADH7c.786G>A (p.Val262=)
c.822G>A (p.Val274=)
c.846G>A (p.Val282=)
c.615G>A (p.Val205=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.99420573A>CCA357497429ADH7c.785T>G (p.Val262Gly)
c.821T>G (p.Val274Gly)
c.845T>G (p.Val282Gly)
c.614T>G (p.Val205Gly)
 gnomAD v4
4g.99420573A>GCA357497430ADH7c.785T>C (p.Val262Ala)
c.821T>C (p.Val274Ala)
c.845T>C (p.Val282Ala)
c.614T>C (p.Val205Ala)
4g.99420573A>TCA357497431ADH7c.785T>A (p.Val262Glu)
c.821T>A (p.Val274Glu)
c.845T>A (p.Val282Glu)
c.614T>A (p.Val205Glu)
4g.99420574C>ACA357497432ADH7c.784G>T (p.Val262Leu)
c.820G>T (p.Val274Leu)
c.844G>T (p.Val282Leu)
c.613G>T (p.Val205Leu)
 dbSNP
4g.99420574C=CA1479994050ADH7c.784G= (p.Val262=)
c.820G= (p.Val274=)
c.844G= (p.Val282=)
c.613G= (p.Val205=)
4g.99420574C>GCA357497433ADH7c.784G>C (p.Val262Leu)
c.820G>C (p.Val274Leu)
c.844G>C (p.Val282Leu)
c.613G>C (p.Val205Leu)
4g.99420574C>TCA3020729ADH7c.784G>A (p.Val262Met)
c.820G>A (p.Val274Met)
c.844G>A (p.Val282Met)
c.613G>A (p.Val205Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.99420575G>ACA3020730ADH7c.783C>T (p.Asn261=)
c.819C>T (p.Asn273=)
c.843C>T (p.Asn281=)
c.612C>T (p.Asn204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420575G>CCA357497434ADH7c.783C>G (p.Asn261Lys)
c.819C>G (p.Asn273Lys)
c.843C>G (p.Asn281Lys)
c.612C>G (p.Asn204Lys)
4g.99420575G=CA1479994054ADH7c.783C= (p.Asn261=)
c.819C= (p.Asn273=)
c.843C= (p.Asn281=)
c.612C= (p.Asn204=)
4g.99420575G>TCA357497435ADH7c.783C>A (p.Asn261Lys)
c.819C>A (p.Asn273Lys)
c.843C>A (p.Asn281Lys)
c.612C>A (p.Asn204Lys)
4g.99420576T>ACA357497436ADH7c.782A>T (p.Asn261Ile)
c.818A>T (p.Asn273Ile)
c.842A>T (p.Asn281Ile)
c.611A>T (p.Asn204Ile)
4g.99420576T>CCA357497437ADH7c.782A>G (p.Asn261Ser)
c.818A>G (p.Asn273Ser)
c.842A>G (p.Asn281Ser)
c.611A>G (p.Asn204Ser)
4g.99420576T>GCA357497438ADH7c.782A>C (p.Asn261Thr)
c.818A>C (p.Asn273Thr)
c.842A>C (p.Asn281Thr)
c.611A>C (p.Asn204Thr)
4g.99420577delCA2671525109ADH7c.782del (p.Asn261ThrfsTer15)
c.818del (p.Asn273ThrfsTer15)
c.842del (p.Asn281ThrfsTer15)
c.611del (p.Asn204ThrfsTer15)
 gnomAD v4
4g.99420577T>ACA357497440ADH7c.781A>T (p.Asn261Tyr)
c.817A>T (p.Asn273Tyr)
c.841A>T (p.Asn281Tyr)
c.610A>T (p.Asn204Tyr)
4g.99420577T>CCA357497441ADH7c.781A>G (p.Asn261Asp)
c.817A>G (p.Asn273Asp)
c.841A>G (p.Asn281Asp)
c.610A>G (p.Asn204Asp)
4g.99420577T>GCA357497439ADH7c.781A>C (p.Asn261His)
c.817A>C (p.Asn273His)
c.841A>C (p.Asn281His)
c.610A>C (p.Asn204His)
 gnomAD v4
4g.99420578G>ACA440506378ADH7c.780C>T (p.Asn260=)
c.816C>T (p.Asn272=)
c.840C>T (p.Asn280=)
c.609C>T (p.Asn203=)
 gnomAD v4
4g.99420578G>CCA357497442ADH7c.780C>G (p.Asn260Lys)
c.816C>G (p.Asn272Lys)
c.840C>G (p.Asn280Lys)
c.609C>G (p.Asn203Lys)
4g.99420578G>TCA357497443ADH7c.780C>A (p.Asn260Lys)
c.816C>A (p.Asn272Lys)
c.840C>A (p.Asn280Lys)
c.609C>A (p.Asn203Lys)
4g.99420579T>ACA357497444ADH7c.779A>T (p.Asn260Ile)
c.815A>T (p.Asn272Ile)
c.839A>T (p.Asn280Ile)
c.608A>T (p.Asn203Ile)
 gnomAD v4
4g.99420579T>CCA357497445ADH7c.779A>G (p.Asn260Ser)
c.815A>G (p.Asn272Ser)
c.839A>G (p.Asn280Ser)
c.608A>G (p.Asn203Ser)
4g.99420579T>GCA357497446ADH7c.779A>C (p.Asn260Thr)
c.815A>C (p.Asn272Thr)
c.839A>C (p.Asn280Thr)
c.608A>C (p.Asn203Thr)
4g.99420580T>ACA357497449ADH7c.778A>T (p.Asn260Tyr)
c.814A>T (p.Asn272Tyr)
c.838A>T (p.Asn280Tyr)
c.607A>T (p.Asn203Tyr)
4g.99420580T>CCA357497448ADH7c.778A>G (p.Asn260Asp)
c.814A>G (p.Asn272Asp)
c.838A>G (p.Asn280Asp)
c.607A>G (p.Asn203Asp)
4g.99420580T>GCA357497447ADH7c.778A>C (p.Asn260His)
c.814A>C (p.Asn272His)
c.838A>C (p.Asn280His)
c.607A>C (p.Asn203His)
4g.99420581G>ACA440506379ADH7c.777C>T (p.Gly259=)
c.813C>T (p.Gly271=)
c.837C>T (p.Gly279=)
c.606C>T (p.Gly202=)
 gnomAD v4
4g.99420581G>CCA440506380ADH7c.777C>G (p.Gly259=)
c.813C>G (p.Gly271=)
c.837C>G (p.Gly279=)
c.606C>G (p.Gly202=)
4g.99420581G>TCA440506381ADH7c.777C>A (p.Gly259=)
c.813C>A (p.Gly271=)
c.837C>A (p.Gly279=)
c.606C>A (p.Gly202=)
4g.99420582C>ACA357497450ADH7c.776G>T (p.Gly259Val)
c.812G>T (p.Gly271Val)
c.836G>T (p.Gly279Val)
c.605G>T (p.Gly202Val)
 dbSNP gnomAD v2 gnomAD v4
4g.99420582C=CA1479994064ADH7c.776G= (p.Gly259=)
c.812G= (p.Gly271=)
c.836G= (p.Gly279=)
c.605G= (p.Gly202=)
4g.99420582C>GCA357497451ADH7c.776G>C (p.Gly259Ala)
c.812G>C (p.Gly271Ala)
c.836G>C (p.Gly279Ala)
c.605G>C (p.Gly202Ala)
4g.99420582C>TCA3020731ADH7c.776G>A (p.Gly259Asp)
c.812G>A (p.Gly271Asp)
c.836G>A (p.Gly279Asp)
c.605G>A (p.Gly202Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420583C>ACA357497452ADH7c.775G>T (p.Gly259Cys)
c.811G>T (p.Gly271Cys)
c.835G>T (p.Gly279Cys)
c.604G>T (p.Gly202Cys)
4g.99420583C=CA1479994068ADH7c.775G= (p.Gly259=)
c.811G= (p.Gly271=)
c.835G= (p.Gly279=)
c.604G= (p.Gly202=)
4g.99420583C>GCA357497453ADH7c.775G>C (p.Gly259Arg)
c.811G>C (p.Gly271Arg)
c.835G>C (p.Gly279Arg)
c.604G>C (p.Gly202Arg)
4g.99420583C>TCA102645819ADH7c.775G>A (p.Gly259Ser)
c.811G>A (p.Gly271Ser)
c.835G>A (p.Gly279Ser)
c.604G>A (p.Gly202Ser)
 dbSNP gnomAD v4
4g.99420584T>ACA440506382ADH7c.774A>T (p.Thr258=)
c.810A>T (p.Thr270=)
c.834A>T (p.Thr278=)
c.603A>T (p.Thr201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420584T>CCA440506383ADH7c.774A>G (p.Thr258=)
c.810A>G (p.Thr270=)
c.834A>G (p.Thr278=)
c.603A>G (p.Thr201=)
 dbSNP
4g.99420584T>GCA440506384ADH7c.774A>C (p.Thr258=)
c.810A>C (p.Thr270=)
c.834A>C (p.Thr278=)
c.603A>C (p.Thr201=)
4g.99420584T=CA1479994071ADH7c.774A= (p.Thr258=)
c.810A= (p.Thr270=)
c.834A= (p.Thr278=)
c.603A= (p.Thr201=)
4g.99420585G>ACA3020732ADH7c.773C>T (p.Thr258Ile)
c.809C>T (p.Thr270Ile)
c.833C>T (p.Thr278Ile)
c.602C>T (p.Thr201Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420585G>CCA357497455ADH7c.773C>G (p.Thr258Arg)
c.809C>G (p.Thr270Arg)
c.833C>G (p.Thr278Arg)
c.602C>G (p.Thr201Arg)
 COSMIC COSMIC
4g.99420585G=CA1479994075ADH7c.773C= (p.Thr258=)
c.809C= (p.Thr270=)
c.833C= (p.Thr278=)
c.602C= (p.Thr201=)
4g.99420585G>TCA357497454ADH7c.773C>A (p.Thr258Lys)
c.809C>A (p.Thr270Lys)
c.833C>A (p.Thr278Lys)
c.602C>A (p.Thr201Lys)
4g.99420586T>ACA357497456ADH7c.772A>T (p.Thr258Ser)
c.808A>T (p.Thr270Ser)
c.832A>T (p.Thr278Ser)
c.601A>T (p.Thr201Ser)
4g.99420586T>CCA357497458ADH7c.772A>G (p.Thr258Ala)
c.808A>G (p.Thr270Ala)
c.832A>G (p.Thr278Ala)
c.601A>G (p.Thr201Ala)
4g.99420586T>GCA357497457ADH7c.772A>C (p.Thr258Pro)
c.808A>C (p.Thr270Pro)
c.832A>C (p.Thr278Pro)
c.601A>C (p.Thr201Pro)
4g.99420586dupCA2671525110ADH7c.772dup (p.Thr258AsnfsTer10)
c.808dup (p.Thr270AsnfsTer10)
c.832dup (p.Thr278AsnfsTer10)
c.601dup (p.Thr201AsnfsTer10)
 gnomAD v4
4g.99420587C>ACA357497459ADH7c.771G>T (p.Met257Ile)
c.807G>T (p.Met269Ile)
c.831G>T (p.Met277Ile)
c.600G>T (p.Met200Ile)
4g.99420587C>GCA357497461ADH7c.771G>C (p.Met257Ile)
c.807G>C (p.Met269Ile)
c.831G>C (p.Met277Ile)
c.600G>C (p.Met200Ile)
4g.99420587C>TCA357497460ADH7c.771G>A (p.Met257Ile)
c.807G>A (p.Met269Ile)
c.831G>A (p.Met277Ile)
c.600G>A (p.Met200Ile)
 ClinVar
4g.99420588A>CCA357497462ADH7c.770T>G (p.Met257Arg)
c.806T>G (p.Met269Arg)
c.830T>G (p.Met277Arg)
c.599T>G (p.Met200Arg)
4g.99420588A>GCA357497463ADH7c.770T>C (p.Met257Thr)
c.806T>C (p.Met269Thr)
c.830T>C (p.Met277Thr)
c.599T>C (p.Met200Thr)
4g.99420588A>TCA357497464ADH7c.770T>A (p.Met257Lys)
c.806T>A (p.Met269Lys)
c.830T>A (p.Met277Lys)
c.599T>A (p.Met200Lys)
4g.99420589T>ACA357497465ADH7c.769A>T (p.Met257Leu)
c.805A>T (p.Met269Leu)
c.829A>T (p.Met277Leu)
c.598A>T (p.Met200Leu)
4g.99420589T>CCA357497466ADH7c.769A>G (p.Met257Val)
c.805A>G (p.Met269Val)
c.829A>G (p.Met277Val)
c.598A>G (p.Met200Val)
4g.99420589T>GCA357497467ADH7c.769A>C (p.Met257Leu)
c.805A>C (p.Met269Leu)
c.829A>C (p.Met277Leu)
c.598A>C (p.Met200Leu)
 gnomAD v4
4g.99420590T>ACA357497468ADH7c.768A>T (p.Glu256Asp)
c.804A>T (p.Glu268Asp)
c.828A>T (p.Glu276Asp)
c.597A>T (p.Glu199Asp)
4g.99420590T>CCA440506385ADH7c.768A>G (p.Glu256=)
c.804A>G (p.Glu268=)
c.828A>G (p.Glu276=)
c.597A>G (p.Glu199=)
4g.99420590T>GCA357497469ADH7c.768A>C (p.Glu256Asp)
c.804A>C (p.Glu268Asp)
c.828A>C (p.Glu276Asp)
c.597A>C (p.Glu199Asp)
4g.99420591T>ACA357497470ADH7c.767A>T (p.Glu256Val)
c.803A>T (p.Glu268Val)
c.827A>T (p.Glu276Val)
c.596A>T (p.Glu199Val)
4g.99420591T>CCA357497471ADH7c.767A>G (p.Glu256Gly)
c.803A>G (p.Glu268Gly)
c.827A>G (p.Glu276Gly)
c.596A>G (p.Glu199Gly)
4g.99420591T>GCA357497472ADH7c.767A>C (p.Glu256Ala)
c.803A>C (p.Glu268Ala)
c.827A>C (p.Glu276Ala)
c.596A>C (p.Glu199Ala)
4g.99420592C>ACA357497473ADH7c.766G>T (p.Glu256Ter)
c.802G>T (p.Glu268Ter)
c.826G>T (p.Glu276Ter)
c.595G>T (p.Glu199Ter)
4g.99420592C=CA1479994081ADH7c.766G= (p.Glu256=)
c.802G= (p.Glu268=)
c.826G= (p.Glu276=)
c.595G= (p.Glu199=)
4g.99420592C>GCA3020733ADH7c.766G>C (p.Glu256Gln)
c.802G>C (p.Glu268Gln)
c.826G>C (p.Glu276Gln)
c.595G>C (p.Glu199Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420592C>TCA3020734ADH7c.766G>A (p.Glu256Lys)
c.802G>A (p.Glu268Lys)
c.826G>A (p.Glu276Lys)
c.595G>A (p.Glu199Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420593T>ACA440506388ADH7c.765A>T (p.Ser255=)
c.801A>T (p.Ser267=)
c.825A>T (p.Ser275=)
c.594A>T (p.Ser198=)
4g.99420593T>CCA440506387ADH7c.765A>G (p.Ser255=)
c.801A>G (p.Ser267=)
c.825A>G (p.Ser275=)
c.594A>G (p.Ser198=)
4g.99420593T>GCA440506386ADH7c.765A>C (p.Ser255=)
c.801A>C (p.Ser267=)
c.825A>C (p.Ser275=)
c.594A>C (p.Ser198=)
 gnomAD v4
4g.99420594G>ACA357497474ADH7c.764C>T (p.Ser255Leu)
c.800C>T (p.Ser267Leu)
c.824C>T (p.Ser275Leu)
c.593C>T (p.Ser198Leu)
4g.99420594G>CCA357497475ADH7c.764C>G (p.Ser255Ter)
c.800C>G (p.Ser267Ter)
c.824C>G (p.Ser275Ter)
c.593C>G (p.Ser198Ter)
4g.99420594G>TCA357497476ADH7c.764C>A (p.Ser255Ter)
c.800C>A (p.Ser267Ter)
c.824C>A (p.Ser275Ter)
c.593C>A (p.Ser198Ter)
4g.99420595A>CCA357497477ADH7c.763T>G (p.Ser255Ala)
c.799T>G (p.Ser267Ala)
c.823T>G (p.Ser275Ala)
c.592T>G (p.Ser198Ala)
4g.99420595A>GCA357497478ADH7c.763T>C (p.Ser255Pro)
c.799T>C (p.Ser267Pro)
c.823T>C (p.Ser275Pro)
c.592T>C (p.Ser198Pro)
4g.99420595A>TCA357497479ADH7c.763T>A (p.Ser255Thr)
c.799T>A (p.Ser267Thr)
c.823T>A (p.Ser275Thr)
c.592T>A (p.Ser198Thr)
4g.99420596C>ACA440506389ADH7c.762G>T (p.Leu254=)
c.798G>T (p.Leu266=)
c.822G>T (p.Leu274=)
c.591G>T (p.Leu197=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420596C=CA1479994085ADH7c.762G= (p.Leu254=)
c.798G= (p.Leu266=)
c.822G= (p.Leu274=)
c.591G= (p.Leu197=)
4g.99420596C>GCA440506390ADH7c.762G>C (p.Leu254=)
c.798G>C (p.Leu266=)
c.822G>C (p.Leu274=)
c.591G>C (p.Leu197=)
4g.99420596C>TCA440506391ADH7c.762G>A (p.Leu254=)
c.798G>A (p.Leu266=)
c.822G>A (p.Leu274=)
c.591G>A (p.Leu197=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420597A=CA1479994087ADH7c.761T= (p.Leu254=)
c.797T= (p.Leu266=)
c.821T= (p.Leu274=)
c.590T= (p.Leu197=)
4g.99420597A>CCA357497480ADH7c.761T>G (p.Leu254Arg)
c.797T>G (p.Leu266Arg)
c.821T>G (p.Leu274Arg)
c.590T>G (p.Leu197Arg)
4g.99420597A>GCA357497481ADH7c.761T>C (p.Leu254Pro)
c.797T>C (p.Leu266Pro)
c.821T>C (p.Leu274Pro)
c.590T>C (p.Leu197Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.99420597A>TCA357497482ADH7c.761T>A (p.Leu254Gln)
c.797T>A (p.Leu266Gln)
c.821T>A (p.Leu274Gln)
c.590T>A (p.Leu197Gln)
4g.99420598G>ACA440506392ADH7c.760C>T (p.Leu254=)
c.796C>T (p.Leu266=)
c.820C>T (p.Leu274=)
c.589C>T (p.Leu197=)
 dbSNP gnomAD v2
4g.99420598G>CCA357497483ADH7c.760C>G (p.Leu254Val)
c.796C>G (p.Leu266Val)
c.820C>G (p.Leu274Val)
c.589C>G (p.Leu197Val)
4g.99420598G=CA1479994088ADH7c.760C= (p.Leu254=)
c.796C= (p.Leu266=)
c.820C= (p.Leu274=)
c.589C= (p.Leu197=)
4g.99420598G>TCA357497484ADH7c.760C>A (p.Leu254Met)
c.796C>A (p.Leu266Met)
c.820C>A (p.Leu274Met)
c.589C>A (p.Leu197Met)
4g.99420599C>ACA440506395ADH7c.759G>T (p.Val253=)
c.795G>T (p.Val265=)
c.819G>T (p.Val273=)
c.588G>T (p.Val196=)
4g.99420599C=CA1479994095ADH7c.759G= (p.Val253=)
c.795G= (p.Val265=)
c.819G= (p.Val273=)
c.588G= (p.Val196=)
4g.99420599C>GCA440506393ADH7c.759G>C (p.Val253=)
c.795G>C (p.Val265=)
c.819G>C (p.Val273=)
c.588G>C (p.Val196=)
4g.99420599C>TCA440506394ADH7c.759G>A (p.Val253=)
c.795G>A (p.Val265=)
c.819G>A (p.Val273=)
c.588G>A (p.Val196=)
 dbSNP gnomAD v2
4g.99420600A=CA1479994099ADH7c.758T= (p.Val253=)
c.794T= (p.Val265=)
c.818T= (p.Val273=)
c.587T= (p.Val196=)
4g.99420600A>CCA357497487ADH7c.758T>G (p.Val253Gly)
c.794T>G (p.Val265Gly)
c.818T>G (p.Val273Gly)
c.587T>G (p.Val196Gly)
4g.99420600A>GCA357497486ADH7c.758T>C (p.Val253Ala)
c.794T>C (p.Val265Ala)
c.818T>C (p.Val273Ala)
c.587T>C (p.Val196Ala)
4g.99420600A>TCA357497485ADH7c.758T>A (p.Val253Glu)
c.794T>A (p.Val265Glu)
c.818T>A (p.Val273Glu)
c.587T>A (p.Val196Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.99420601C>ACA357497488ADH7c.757G>T (p.Val253Leu)
c.793G>T (p.Val265Leu)
c.817G>T (p.Val273Leu)
c.586G>T (p.Val196Leu)
4g.99420601C>GCA357497489ADH7c.757G>C (p.Val253Leu)
c.793G>C (p.Val265Leu)
c.817G>C (p.Val273Leu)
c.586G>C (p.Val196Leu)
4g.99420601C>TCA357497490ADH7c.757G>A (p.Val253Met)
c.793G>A (p.Val265Met)
c.817G>A (p.Val273Met)
c.586G>A (p.Val196Met)
 gnomAD v4 COSMIC COSMIC
4g.99420602C>ACA357497491ADH7c.756G>T (p.Glu252Asp)
c.792G>T (p.Glu264Asp)
c.816G>T (p.Glu272Asp)
c.585G>T (p.Glu195Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.99420602C=CA1479994102ADH7c.756G= (p.Glu252=)
c.792G= (p.Glu264=)
c.816G= (p.Glu272=)
c.585G= (p.Glu195=)
4g.99420602C>GCA357497492ADH7c.756G>C (p.Glu252Asp)
c.792G>C (p.Glu264Asp)
c.816G>C (p.Glu272Asp)
c.585G>C (p.Glu195Asp)
4g.99420602C>TCA440506396ADH7c.756G>A (p.Glu252=)
c.792G>A (p.Glu264=)
c.816G>A (p.Glu272=)
c.585G>A (p.Glu195=)
4g.99420603T>ACA357497493ADH7c.755A>T (p.Glu252Val)
c.791A>T (p.Glu264Val)
c.815A>T (p.Glu272Val)
c.584A>T (p.Glu195Val)
4g.99420603T>CCA357497494ADH7c.755A>G (p.Glu252Gly)
c.791A>G (p.Glu264Gly)
c.815A>G (p.Glu272Gly)
c.584A>G (p.Glu195Gly)
 gnomAD v4
4g.99420603T>GCA357497495ADH7c.755A>C (p.Glu252Ala)
c.791A>C (p.Glu264Ala)
c.815A>C (p.Glu272Ala)
c.584A>C (p.Glu195Ala)
4g.99420604C>ACA357497496ADH7c.754G>T (p.Glu252Ter)
c.790G>T (p.Glu264Ter)
c.814G>T (p.Glu272Ter)
c.583G>T (p.Glu195Ter)
4g.99420604C=CA1479994104ADH7c.754G= (p.Glu252=)
c.790G= (p.Glu264=)
c.814G= (p.Glu272=)
c.583G= (p.Glu195=)
4g.99420604C>GCA357497497ADH7c.754G>C (p.Glu252Gln)
c.790G>C (p.Glu264Gln)
c.814G>C (p.Glu272Gln)
c.583G>C (p.Glu195Gln)
4g.99420604C>TCA357497498ADH7c.754G>A (p.Glu252Lys)
c.790G>A (p.Glu264Lys)
c.814G>A (p.Glu272Lys)
c.583G>A (p.Glu195Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.99420605A=CA1479994106ADH7c.753T= (p.Ser251=)
c.789T= (p.Ser263=)
c.813T= (p.Ser271=)
c.582T= (p.Ser194=)
4g.99420605A>CCA357497499ADH7c.753T>G (p.Ser251Arg)
c.789T>G (p.Ser263Arg)
c.813T>G (p.Ser271Arg)
c.582T>G (p.Ser194Arg)
4g.99420605A>GCA440506397ADH7c.753T>C (p.Ser251=)
c.789T>C (p.Ser263=)
c.813T>C (p.Ser271=)
c.582T>C (p.Ser194=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420605A>TCA357497500ADH7c.753T>A (p.Ser251Arg)
c.789T>A (p.Ser263Arg)
c.813T>A (p.Ser271Arg)
c.582T>A (p.Ser194Arg)
4g.99420606C>ACA357497501ADH7c.752G>T (p.Ser251Ile)
c.788G>T (p.Ser263Ile)
c.812G>T (p.Ser271Ile)
c.581G>T (p.Ser194Ile)
4g.99420606C>GCA357497503ADH7c.752G>C (p.Ser251Thr)
c.788G>C (p.Ser263Thr)
c.812G>C (p.Ser271Thr)
c.581G>C (p.Ser194Thr)
4g.99420606C>TCA357497502ADH7c.752G>A (p.Ser251Asn)
c.788G>A (p.Ser263Asn)
c.812G>A (p.Ser271Asn)
c.581G>A (p.Ser194Asn)

Number of alleles fetched