Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99420560_99420570delCA2578151625ADH7c.790_800del (p.Tyr264SerfsTer6)
c.826_836del (p.Tyr276SerfsTer6)
c.850_860del (p.Tyr284SerfsTer6)
c.619_629del (p.Tyr207SerfsTer6)
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)
 ClinVar
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)
4g.99420607T>ACA357497504ADH7c.751A>T (p.Ser251Cys)
c.787A>T (p.Ser263Cys)
c.811A>T (p.Ser271Cys)
c.580A>T (p.Ser194Cys)
4g.99420607T>CCA357497505ADH7c.751A>G (p.Ser251Gly)
c.787A>G (p.Ser263Gly)
c.811A>G (p.Ser271Gly)
c.580A>G (p.Ser194Gly)
4g.99420607T>GCA357497506ADH7c.751A>C (p.Ser251Arg)
c.787A>C (p.Ser263Arg)
c.811A>C (p.Ser271Arg)
c.580A>C (p.Ser194Arg)
4g.99420608G>ACA440506398ADH7c.750C>T (p.Ile250=)
c.786C>T (p.Ile262=)
c.810C>T (p.Ile270=)
c.579C>T (p.Ile193=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420608G>CCA357497507ADH7c.750C>G (p.Ile250Met)
c.786C>G (p.Ile262Met)
c.810C>G (p.Ile270Met)
c.579C>G (p.Ile193Met)
4g.99420608G=CA1479994108ADH7c.750C= (p.Ile250=)
c.786C= (p.Ile262=)
c.810C= (p.Ile270=)
c.579C= (p.Ile193=)
4g.99420608G>TCA440506399ADH7c.750C>A (p.Ile250=)
c.786C>A (p.Ile262=)
c.810C>A (p.Ile270=)
c.579C>A (p.Ile193=)
 gnomAD v3 gnomAD v4
4g.99420609A=CA1479994114ADH7c.749T= (p.Ile250=)
c.785T= (p.Ile262=)
c.809T= (p.Ile270=)
c.578T= (p.Ile193=)
4g.99420609A>CCA357497508ADH7c.749T>G (p.Ile250Ser)
c.785T>G (p.Ile262Ser)
c.809T>G (p.Ile270Ser)
c.578T>G (p.Ile193Ser)
4g.99420609A>GCA3020735ADH7c.749T>C (p.Ile250Thr)
c.785T>C (p.Ile262Thr)
c.809T>C (p.Ile270Thr)
c.578T>C (p.Ile193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420609A>TCA357497509ADH7c.749T>A (p.Ile250Asn)
c.785T>A (p.Ile262Asn)
c.809T>A (p.Ile270Asn)
c.578T>A (p.Ile193Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.99420610T>ACA357497510ADH7c.748A>T (p.Ile250Phe)
c.784A>T (p.Ile262Phe)
c.808A>T (p.Ile270Phe)
c.577A>T (p.Ile193Phe)
4g.99420610T>CCA357497511ADH7c.748A>G (p.Ile250Val)
c.784A>G (p.Ile262Val)
c.808A>G (p.Ile270Val)
c.577A>G (p.Ile193Val)
 gnomAD v4
4g.99420610T>GCA357497512ADH7c.748A>C (p.Ile250Leu)
c.784A>C (p.Ile262Leu)
c.808A>C (p.Ile270Leu)
c.577A>C (p.Ile193Leu)
4g.99420611G>ACA440506400ADH7c.747C>T (p.Pro249=)
c.783C>T (p.Pro261=)
c.807C>T (p.Pro269=)
c.576C>T (p.Pro192=)
4g.99420611G>CCA440506401ADH7c.747C>G (p.Pro249=)
c.783C>G (p.Pro261=)
c.807C>G (p.Pro269=)
c.576C>G (p.Pro192=)
4g.99420611G>TCA440506402ADH7c.747C>A (p.Pro249=)
c.783C>A (p.Pro261=)
c.807C>A (p.Pro269=)
c.576C>A (p.Pro192=)
4g.99420612G>ACA357497515ADH7c.746C>T (p.Pro249Leu)
c.782C>T (p.Pro261Leu)
c.806C>T (p.Pro269Leu)
c.575C>T (p.Pro192Leu)
4g.99420612G>CCA357497514ADH7c.746C>G (p.Pro249Arg)
c.782C>G (p.Pro261Arg)
c.806C>G (p.Pro269Arg)
c.575C>G (p.Pro192Arg)
4g.99420612G>TCA357497513ADH7c.746C>A (p.Pro249His)
c.782C>A (p.Pro261His)
c.806C>A (p.Pro269His)
c.575C>A (p.Pro192His)
4g.99420613G>ACA357497516ADH7c.745C>T (p.Pro249Ser)
c.781C>T (p.Pro261Ser)
c.805C>T (p.Pro269Ser)
c.574C>T (p.Pro192Ser)
 dbSNP gnomAD v4
4g.99420613G>CCA357497518ADH7c.745C>G (p.Pro249Ala)
c.781C>G (p.Pro261Ala)
c.805C>G (p.Pro269Ala)
c.574C>G (p.Pro192Ala)
4g.99420613G=CA1479994118ADH7c.745C= (p.Pro249=)
c.781C= (p.Pro261=)
c.805C= (p.Pro269=)
c.574C= (p.Pro192=)
4g.99420613G>TCA357497517ADH7c.745C>A (p.Pro249Thr)
c.781C>A (p.Pro261Thr)
c.805C>A (p.Pro269Thr)
c.574C>A (p.Pro192Thr)
4g.99420614T>ACA357497519ADH7c.744A>T (p.Lys248Asn)
c.780A>T (p.Lys260Asn)
c.804A>T (p.Lys268Asn)
c.573A>T (p.Lys191Asn)
4g.99420614T>CCA440506403ADH7c.744A>G (p.Lys248=)
c.780A>G (p.Lys260=)
c.804A>G (p.Lys268=)
c.573A>G (p.Lys191=)
4g.99420614T>GCA357497520ADH7c.744A>C (p.Lys248Asn)
c.780A>C (p.Lys260Asn)
c.804A>C (p.Lys268Asn)
c.573A>C (p.Lys191Asn)
4g.99420615T>ACA357497521ADH7c.743A>T (p.Lys248Ile)
c.779A>T (p.Lys260Ile)
c.803A>T (p.Lys268Ile)
c.572A>T (p.Lys191Ile)
4g.99420615T>CCA357497522ADH7c.743A>G (p.Lys248Arg)
c.779A>G (p.Lys260Arg)
c.803A>G (p.Lys268Arg)
c.572A>G (p.Lys191Arg)
4g.99420615T>GCA357497523ADH7c.743A>C (p.Lys248Thr)
c.779A>C (p.Lys260Thr)
c.803A>C (p.Lys268Thr)
c.572A>C (p.Lys191Thr)
4g.99420619_99420630delCA2671525111ADH7c.732_743del (p.Asp245_Lys248del)
c.768_779del (p.Asp257_Lys260del)
c.792_803del (p.Asp265_Lys268del)
c.561_572del (p.Asp188_Lys191del)
 gnomAD v4
4g.99420616T>ACA357497524ADH7c.742A>T (p.Lys248Ter)
c.778A>T (p.Lys260Ter)
c.802A>T (p.Lys268Ter)
c.571A>T (p.Lys191Ter)
4g.99420616T>CCA357497525ADH7c.742A>G (p.Lys248Glu)
c.778A>G (p.Lys260Glu)
c.802A>G (p.Lys268Glu)
c.571A>G (p.Lys191Glu)
4g.99420616T>GCA357497526ADH7c.742A>C (p.Lys248Gln)
c.778A>C (p.Lys260Gln)
c.802A>C (p.Lys268Gln)
c.571A>C (p.Lys191Gln)
4g.99420617G>ACA440506404ADH7c.741C>T (p.Thr247=)
c.777C>T (p.Thr259=)
c.801C>T (p.Thr267=)
c.570C>T (p.Thr190=)
4g.99420617G>CCA440506405ADH7c.741C>G (p.Thr247=)
c.777C>G (p.Thr259=)
c.801C>G (p.Thr267=)
c.570C>G (p.Thr190=)
4g.99420617G=CA1479994123ADH7c.741C= (p.Thr247=)
c.777C= (p.Thr259=)
c.801C= (p.Thr267=)
c.570C= (p.Thr190=)
4g.99420617G>TCA440506406ADH7c.741C>A (p.Thr247=)
c.777C>A (p.Thr259=)
c.801C>A (p.Thr267=)
c.570C>A (p.Thr190=)
 dbSNP gnomAD v4
4g.99420618G>ACA357497527ADH7c.740C>T (p.Thr247Ile)
c.776C>T (p.Thr259Ile)
c.800C>T (p.Thr267Ile)
c.569C>T (p.Thr190Ile)
 gnomAD v4
4g.99420618G>CCA357497528ADH7c.740C>G (p.Thr247Ser)
c.776C>G (p.Thr259Ser)
c.800C>G (p.Thr267Ser)
c.569C>G (p.Thr190Ser)
4g.99420618G=CA1479994127ADH7c.740C= (p.Thr247=)
c.776C= (p.Thr259=)
c.800C= (p.Thr267=)
c.569C= (p.Thr190=)
4g.99420618G>TCA357497529ADH7c.740C>A (p.Thr247Asn)
c.776C>A (p.Thr259Asn)
c.800C>A (p.Thr267Asn)
c.569C>A (p.Thr190Asn)
 dbSNP
4g.99420619T>ACA357497532ADH7c.739A>T (p.Thr247Ser)
c.775A>T (p.Thr259Ser)
c.799A>T (p.Thr267Ser)
c.568A>T (p.Thr190Ser)
4g.99420619T>CCA357497531ADH7c.739A>G (p.Thr247Ala)
c.775A>G (p.Thr259Ala)
c.799A>G (p.Thr267Ala)
c.568A>G (p.Thr190Ala)
4g.99420619T>GCA357497530ADH7c.739A>C (p.Thr247Pro)
c.775A>C (p.Thr259Pro)
c.799A>C (p.Thr267Pro)
c.568A>C (p.Thr190Pro)
4g.99420620A=CA1479994132ADH7c.738T= (p.Ser246=)
c.774T= (p.Ser258=)
c.798T= (p.Ser266=)
c.567T= (p.Ser189=)
4g.99420620A>CCA440506407ADH7c.738T>G (p.Ser246=)
c.774T>G (p.Ser258=)
c.798T>G (p.Ser266=)
c.567T>G (p.Ser189=)
4g.99420620A>GCA3020736ADH7c.738T>C (p.Ser246=)
c.774T>C (p.Ser258=)
c.798T>C (p.Ser266=)
c.567T>C (p.Ser189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420620A>TCA440506408ADH7c.738T>A (p.Ser246=)
c.774T>A (p.Ser258=)
c.798T>A (p.Ser266=)
c.567T>A (p.Ser189=)
4g.99420621G>ACA102645860ADH7c.737C>T (p.Ser246Phe)
c.773C>T (p.Ser258Phe)
c.797C>T (p.Ser266Phe)
c.566C>T (p.Ser189Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.99420621G>CCA357497533ADH7c.737C>G (p.Ser246Cys)
c.773C>G (p.Ser258Cys)
c.797C>G (p.Ser266Cys)
c.566C>G (p.Ser189Cys)
 gnomAD v4
4g.99420621G=CA1479994135ADH7c.737C= (p.Ser246=)
c.773C= (p.Ser258=)
c.797C= (p.Ser266=)
c.566C= (p.Ser189=)
4g.99420621G>TCA357497534ADH7c.737C>A (p.Ser246Tyr)
c.773C>A (p.Ser258Tyr)
c.797C>A (p.Ser266Tyr)
c.566C>A (p.Ser189Tyr)
4g.99420622A>CCA357497535ADH7c.736T>G (p.Ser246Ala)
c.772T>G (p.Ser258Ala)
c.796T>G (p.Ser266Ala)
c.565T>G (p.Ser189Ala)
4g.99420622A>GCA357497536ADH7c.736T>C (p.Ser246Pro)
c.772T>C (p.Ser258Pro)
c.796T>C (p.Ser266Pro)
c.565T>C (p.Ser189Pro)
 gnomAD v4
4g.99420622A>TCA357497537ADH7c.736T>A (p.Ser246Thr)
c.772T>A (p.Ser258Thr)
c.796T>A (p.Ser266Thr)
c.565T>A (p.Ser189Thr)
4g.99420623G>ACA440506409ADH7c.735C>T (p.Asp245=)
c.771C>T (p.Asp257=)
c.795C>T (p.Asp265=)
c.564C>T (p.Asp188=)
4g.99420623G>CCA357497538ADH7c.735C>G (p.Asp245Glu)
c.771C>G (p.Asp257Glu)
c.795C>G (p.Asp265Glu)
c.564C>G (p.Asp188Glu)
4g.99420623G=CA1479994138ADH7c.735C= (p.Asp245=)
c.771C= (p.Asp257=)
c.795C= (p.Asp265=)
c.564C= (p.Asp188=)
4g.99420623G>TCA3020737ADH7c.735C>A (p.Asp245Glu)
c.771C>A (p.Asp257Glu)
c.795C>A (p.Asp265Glu)
c.564C>A (p.Asp188Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420624T>ACA357497539ADH7c.734A>T (p.Asp245Val)
c.770A>T (p.Asp257Val)
c.794A>T (p.Asp265Val)
c.563A>T (p.Asp188Val)
4g.99420624T>CCA357497540ADH7c.734A>G (p.Asp245Gly)
c.770A>G (p.Asp257Gly)
c.794A>G (p.Asp265Gly)
c.563A>G (p.Asp188Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.99420624T>GCA357497541ADH7c.734A>C (p.Asp245Ala)
c.770A>C (p.Asp257Ala)
c.794A>C (p.Asp265Ala)
c.563A>C (p.Asp188Ala)
4g.99420624T=CA1479994142ADH7c.734A= (p.Asp245=)
c.770A= (p.Asp257=)
c.794A= (p.Asp265=)
c.563A= (p.Asp188=)
4g.99420625C>ACA357497543ADH7c.733G>T (p.Asp245Tyr)
c.769G>T (p.Asp257Tyr)
c.793G>T (p.Asp265Tyr)
c.562G>T (p.Asp188Tyr)
 gnomAD v4
4g.99420625C=CA1479994146ADH7c.733G= (p.Asp245=)
c.769G= (p.Asp257=)
c.793G= (p.Asp265=)
c.562G= (p.Asp188=)
4g.99420625C>GCA357497542ADH7c.733G>C (p.Asp245His)
c.769G>C (p.Asp257His)
c.793G>C (p.Asp265His)
c.562G>C (p.Asp188His)
4g.99420625C>TCA3020738ADH7c.733G>A (p.Asp245Asn)
c.769G>A (p.Asp257Asn)
c.793G>A (p.Asp265Asn)
c.562G>A (p.Asp188Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420626C>ACA357497544ADH7c.732G>T (p.Lys244Asn)
c.768G>T (p.Lys256Asn)
c.792G>T (p.Lys264Asn)
c.561G>T (p.Lys187Asn)
4g.99420626C=CA1479994148ADH7c.732G= (p.Lys244=)
c.768G= (p.Lys256=)
c.792G= (p.Lys264=)
c.561G= (p.Lys187=)
4g.99420626C>GCA357497545ADH7c.732G>C (p.Lys244Asn)
c.768G>C (p.Lys256Asn)
c.792G>C (p.Lys264Asn)
c.561G>C (p.Lys187Asn)
4g.99420626C>TCA102645891ADH7c.732G>A (p.Lys244=)
c.768G>A (p.Lys256=)
c.792G>A (p.Lys264=)
c.561G>A (p.Lys187=)
 dbSNP COSMIC COSMIC
4g.99420627T>ACA357497546ADH7c.731A>T (p.Lys244Met)
c.767A>T (p.Lys256Met)
c.791A>T (p.Lys264Met)
c.560A>T (p.Lys187Met)
4g.99420627T>CCA357497547ADH7c.731A>G (p.Lys244Arg)
c.767A>G (p.Lys256Arg)
c.791A>G (p.Lys264Arg)
c.560A>G (p.Lys187Arg)
 dbSNP gnomAD v4
4g.99420627T>GCA357497548ADH7c.731A>C (p.Lys244Thr)
c.767A>C (p.Lys256Thr)
c.791A>C (p.Lys264Thr)
c.560A>C (p.Lys187Thr)
4g.99420627T=CA1479994152ADH7c.731A= (p.Lys244=)
c.767A= (p.Lys256=)
c.791A= (p.Lys264=)
c.560A= (p.Lys187=)
4g.99420628T>ACA357497549ADH7c.730A>T (p.Lys244Ter)
c.766A>T (p.Lys256Ter)
c.790A>T (p.Lys264Ter)
c.559A>T (p.Lys187Ter)
 gnomAD v4
4g.99420628T>CCA357497550ADH7c.730A>G (p.Lys244Glu)
c.766A>G (p.Lys256Glu)
c.790A>G (p.Lys264Glu)
c.559A>G (p.Lys187Glu)
4g.99420628T>GCA357497551ADH7c.730A>C (p.Lys244Gln)
c.766A>C (p.Lys256Gln)
c.790A>C (p.Lys264Gln)
c.559A>C (p.Lys187Gln)
4g.99420628T=CA1479994154ADH7c.730A= (p.Lys244=)
c.766A= (p.Lys256=)
c.790A= (p.Lys264=)
c.559A= (p.Lys187=)
4g.99420629G>ACA440506410ADH7c.729C>T (p.Pro243=)
c.765C>T (p.Pro255=)
c.789C>T (p.Pro263=)
c.558C>T (p.Pro186=)
4g.99420629G>CCA440506411ADH7c.729C>G (p.Pro243=)
c.765C>G (p.Pro255=)
c.789C>G (p.Pro263=)
c.558C>G (p.Pro186=)
4g.99420629G>TCA440506412ADH7c.729C>A (p.Pro243=)
c.765C>A (p.Pro255=)
c.789C>A (p.Pro263=)
c.558C>A (p.Pro186=)
 COSMIC COSMIC
4g.99420629_99420664dupCA553568164ADH7c.694_729dup (p.Pro243_Lys244insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.730_765dup (p.Pro255_Lys256insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.754_789dup (p.Pro263_Lys264insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
c.523_558dup (p.Pro186_Lys187insAlaMetAlaValGlyAlaThrGluCysIleSerPro)
 dbSNP gnomAD v2 gnomAD v4
4g.99420630G>ACA3020739ADH7c.728C>T (p.Pro243Leu)
c.764C>T (p.Pro255Leu)
c.788C>T (p.Pro263Leu)
c.557C>T (p.Pro186Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420630G>CCA3020740ADH7c.728C>G (p.Pro243Arg)
c.764C>G (p.Pro255Arg)
c.788C>G (p.Pro263Arg)
c.557C>G (p.Pro186Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420630G=CA1479994160ADH7c.728C= (p.Pro243=)
c.764C= (p.Pro255=)
c.788C= (p.Pro263=)
c.557C= (p.Pro186=)
4g.99420630G>TCA357497552ADH7c.728C>A (p.Pro243His)
c.764C>A (p.Pro255His)
c.788C>A (p.Pro263His)
c.557C>A (p.Pro186His)
4g.99420631G>ACA3020741ADH7c.727C>T (p.Pro243Ser)
c.763C>T (p.Pro255Ser)
c.787C>T (p.Pro263Ser)
c.556C>T (p.Pro186Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.99420631G>CCA357497554ADH7c.727C>G (p.Pro243Ala)
c.763C>G (p.Pro255Ala)
c.787C>G (p.Pro263Ala)
c.556C>G (p.Pro186Ala)
4g.99420631G=CA1479994167ADH7c.727C= (p.Pro243=)
c.763C= (p.Pro255=)
c.787C= (p.Pro263=)
c.556C= (p.Pro186=)
4g.99420631G>TCA357497553ADH7c.727C>A (p.Pro243Thr)
c.763C>A (p.Pro255Thr)
c.787C>A (p.Pro263Thr)
c.556C>A (p.Pro186Thr)
4g.99420632A>CCA357497555ADH7c.726T>G (p.Ser242Arg)
c.762T>G (p.Ser254Arg)
c.786T>G (p.Ser262Arg)
c.555T>G (p.Ser185Arg)
4g.99420632A>GCA440506413ADH7c.726T>C (p.Ser242=)
c.762T>C (p.Ser254=)
c.786T>C (p.Ser262=)
c.555T>C (p.Ser185=)
4g.99420632A>TCA357497556ADH7c.726T>A (p.Ser242Arg)
c.762T>A (p.Ser254Arg)
c.786T>A (p.Ser262Arg)
c.555T>A (p.Ser185Arg)
4g.99420633C>ACA357497557ADH7c.725G>T (p.Ser242Ile)
c.761G>T (p.Ser254Ile)
c.785G>T (p.Ser262Ile)
c.554G>T (p.Ser185Ile)
 COSMIC COSMIC
4g.99420633C>GCA357497558ADH7c.725G>C (p.Ser242Thr)
c.761G>C (p.Ser254Thr)
c.785G>C (p.Ser262Thr)
c.554G>C (p.Ser185Thr)
 gnomAD v4
4g.99420633C>TCA357497559ADH7c.725G>A (p.Ser242Asn)
c.761G>A (p.Ser254Asn)
c.785G>A (p.Ser262Asn)
c.554G>A (p.Ser185Asn)
4g.99420634T>ACA357497560ADH7c.724A>T (p.Ser242Cys)
c.760A>T (p.Ser254Cys)
c.784A>T (p.Ser262Cys)
c.553A>T (p.Ser185Cys)
4g.99420634T>CCA357497561ADH7c.724A>G (p.Ser242Gly)
c.760A>G (p.Ser254Gly)
c.784A>G (p.Ser262Gly)
c.553A>G (p.Ser185Gly)
 dbSNP gnomAD v2
4g.99420634T>GCA357497562ADH7c.724A>C (p.Ser242Arg)
c.760A>C (p.Ser254Arg)
c.784A>C (p.Ser262Arg)
c.553A>C (p.Ser185Arg)
4g.99420634T=CA1479994170ADH7c.724A= (p.Ser242=)
c.760A= (p.Ser254=)
c.784A= (p.Ser262=)
c.553A= (p.Ser185=)
4g.99420635G>ACA440506414ADH7c.723C>T (p.Ile241=)
c.759C>T (p.Ile253=)
c.783C>T (p.Ile261=)
c.552C>T (p.Ile184=)
4g.99420635G>CCA357497563ADH7c.723C>G (p.Ile241Met)
c.759C>G (p.Ile253Met)
c.783C>G (p.Ile261Met)
c.552C>G (p.Ile184Met)
4g.99420635G>TCA440506415ADH7c.723C>A (p.Ile241=)
c.759C>A (p.Ile253=)
c.783C>A (p.Ile261=)
c.552C>A (p.Ile184=)
4g.99420636A=CA1479994175ADH7c.722T= (p.Ile241=)
c.758T= (p.Ile253=)
c.782T= (p.Ile261=)
c.551T= (p.Ile184=)
4g.99420636A>CCA3020742ADH7c.722T>G (p.Ile241Ser)
c.758T>G (p.Ile253Ser)
c.782T>G (p.Ile261Ser)
c.551T>G (p.Ile184Ser)
 dbSNP ExAC gnomAD v2
4g.99420636A>GCA357497564ADH7c.722T>C (p.Ile241Thr)
c.758T>C (p.Ile253Thr)
c.782T>C (p.Ile261Thr)
c.551T>C (p.Ile184Thr)
4g.99420636A>TCA357497565ADH7c.722T>A (p.Ile241Asn)
c.758T>A (p.Ile253Asn)
c.782T>A (p.Ile261Asn)
c.551T>A (p.Ile184Asn)
4g.99420637T>ACA357497568ADH7c.721A>T (p.Ile241Phe)
c.757A>T (p.Ile253Phe)
c.781A>T (p.Ile261Phe)
c.550A>T (p.Ile184Phe)
4g.99420637T>CCA357497567ADH7c.721A>G (p.Ile241Val)
c.757A>G (p.Ile253Val)
c.781A>G (p.Ile261Val)
c.550A>G (p.Ile184Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420637T>GCA357497566ADH7c.721A>C (p.Ile241Leu)
c.757A>C (p.Ile253Leu)
c.781A>C (p.Ile261Leu)
c.550A>C (p.Ile184Leu)
4g.99420637T=CA1479994181ADH7c.721A= (p.Ile241=)
c.757A= (p.Ile253=)
c.781A= (p.Ile261=)
c.550A= (p.Ile184=)
4g.99420638A=CA1479994184ADH7c.720T= (p.Cys240=)
c.756T= (p.Cys252=)
c.780T= (p.Cys260=)
c.549T= (p.Cys183=)
4g.99420638A>CCA357497569ADH7c.720T>G (p.Cys240Trp)
c.756T>G (p.Cys252Trp)
c.780T>G (p.Cys260Trp)
c.549T>G (p.Cys183Trp)
4g.99420638A>GCA440506416ADH7c.720T>C (p.Cys240=)
c.756T>C (p.Cys252=)
c.780T>C (p.Cys260=)
c.549T>C (p.Cys183=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420638A>TCA357497570ADH7c.720T>A (p.Cys240Ter)
c.756T>A (p.Cys252Ter)
c.780T>A (p.Cys260Ter)
c.549T>A (p.Cys183Ter)
4g.99420639C>ACA357497571ADH7c.719G>T (p.Cys240Phe)
c.755G>T (p.Cys252Phe)
c.779G>T (p.Cys260Phe)
c.548G>T (p.Cys183Phe)
 gnomAD v4
4g.99420639C>GCA357497572ADH7c.719G>C (p.Cys240Ser)
c.755G>C (p.Cys252Ser)
c.779G>C (p.Cys260Ser)
c.548G>C (p.Cys183Ser)
4g.99420639C>TCA357497573ADH7c.719G>A (p.Cys240Tyr)
c.755G>A (p.Cys252Tyr)
c.779G>A (p.Cys260Tyr)
c.548G>A (p.Cys183Tyr)
 gnomAD v4
4g.99420640A>CCA357497574ADH7c.718T>G (p.Cys240Gly)
c.754T>G (p.Cys252Gly)
c.778T>G (p.Cys260Gly)
c.547T>G (p.Cys183Gly)
4g.99420640A>GCA357497575ADH7c.718T>C (p.Cys240Arg)
c.754T>C (p.Cys252Arg)
c.778T>C (p.Cys260Arg)
c.547T>C (p.Cys183Arg)
4g.99420640A>TCA357497576ADH7c.718T>A (p.Cys240Ser)
c.754T>A (p.Cys252Ser)
c.778T>A (p.Cys260Ser)
c.547T>A (p.Cys183Ser)
4g.99420641C>ACA102645937ADH7c.717G>T (p.Glu239Asp)
c.753G>T (p.Glu251Asp)
c.777G>T (p.Glu259Asp)
c.546G>T (p.Glu182Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.99420641C=CA1479994189ADH7c.717G= (p.Glu239=)
c.753G= (p.Glu251=)
c.777G= (p.Glu259=)
c.546G= (p.Glu182=)
4g.99420641C>GCA357497577ADH7c.717G>C (p.Glu239Asp)
c.753G>C (p.Glu251Asp)
c.777G>C (p.Glu259Asp)
c.546G>C (p.Glu182Asp)
4g.99420641C>TCA3020743ADH7c.717G>A (p.Glu239=)
c.753G>A (p.Glu251=)
c.777G>A (p.Glu259=)
c.546G>A (p.Glu182=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420642T>ACA3020744ADH7c.716A>T (p.Glu239Val)
c.752A>T (p.Glu251Val)
c.776A>T (p.Glu259Val)
c.545A>T (p.Glu182Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420642T>CCA357497578ADH7c.716A>G (p.Glu239Gly)
c.752A>G (p.Glu251Gly)
c.776A>G (p.Glu259Gly)
c.545A>G (p.Glu182Gly)
4g.99420642T>GCA357497579ADH7c.716A>C (p.Glu239Ala)
c.752A>C (p.Glu251Ala)
c.776A>C (p.Glu259Ala)
c.545A>C (p.Glu182Ala)
4g.99420642T=CA1479994192ADH7c.716A= (p.Glu239=)
c.752A= (p.Glu251=)
c.776A= (p.Glu259=)
c.545A= (p.Glu182=)
4g.99420643C>ACA357497582ADH7c.715G>T (p.Glu239Ter)
c.751G>T (p.Glu251Ter)
c.775G>T (p.Glu259Ter)
c.544G>T (p.Glu182Ter)
4g.99420643C>GCA357497580ADH7c.715G>C (p.Glu239Gln)
c.751G>C (p.Glu251Gln)
c.775G>C (p.Glu259Gln)
c.544G>C (p.Glu182Gln)
4g.99420643C>TCA357497581ADH7c.715G>A (p.Glu239Lys)
c.751G>A (p.Glu251Lys)
c.775G>A (p.Glu259Lys)
c.544G>A (p.Glu182Lys)
4g.99420644A=CA1479994195ADH7c.714T= (p.Thr238=)
c.750T= (p.Thr250=)
c.774T= (p.Thr258=)
c.543T= (p.Thr181=)
4g.99420644A>CCA440506417ADH7c.714T>G (p.Thr238=)
c.750T>G (p.Thr250=)
c.774T>G (p.Thr258=)
c.543T>G (p.Thr181=)
4g.99420644A>GCA440506418ADH7c.714T>C (p.Thr238=)
c.750T>C (p.Thr250=)
c.774T>C (p.Thr258=)
c.543T>C (p.Thr181=)
 dbSNP gnomAD v4
4g.99420644A>TCA440506419ADH7c.714T>A (p.Thr238=)
c.750T>A (p.Thr250=)
c.774T>A (p.Thr258=)
c.543T>A (p.Thr181=)
4g.99420645G>ACA3020745ADH7c.713C>T (p.Thr238Ile)
c.749C>T (p.Thr250Ile)
c.773C>T (p.Thr258Ile)
c.542C>T (p.Thr181Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420645G>CCA357497583ADH7c.713C>G (p.Thr238Ser)
c.749C>G (p.Thr250Ser)
c.773C>G (p.Thr258Ser)
c.542C>G (p.Thr181Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.99420645G=CA1479994197ADH7c.713C= (p.Thr238=)
c.749C= (p.Thr250=)
c.773C= (p.Thr258=)
c.542C= (p.Thr181=)
4g.99420645G>TCA357497584ADH7c.713C>A (p.Thr238Asn)
c.749C>A (p.Thr250Asn)
c.773C>A (p.Thr258Asn)
c.542C>A (p.Thr181Asn)
 gnomAD v4
4g.99420646T>ACA357497585ADH7c.712A>T (p.Thr238Ser)
c.748A>T (p.Thr250Ser)
c.772A>T (p.Thr258Ser)
c.541A>T (p.Thr181Ser)
 gnomAD v4
4g.99420646T>CCA357497586ADH7c.712A>G (p.Thr238Ala)
c.748A>G (p.Thr250Ala)
c.772A>G (p.Thr258Ala)
c.541A>G (p.Thr181Ala)
 gnomAD v4
4g.99420646T>GCA357497587ADH7c.712A>C (p.Thr238Pro)
c.748A>C (p.Thr250Pro)
c.772A>C (p.Thr258Pro)
c.541A>C (p.Thr181Pro)
4g.99420647G>ACA440506422ADH7c.711C>T (p.Ala237=)
c.747C>T (p.Ala249=)
c.771C>T (p.Ala257=)
c.540C>T (p.Ala180=)
4g.99420647G>CCA440506421ADH7c.711C>G (p.Ala237=)
c.747C>G (p.Ala249=)
c.771C>G (p.Ala257=)
c.540C>G (p.Ala180=)
4g.99420647G>TCA440506420ADH7c.711C>A (p.Ala237=)
c.747C>A (p.Ala249=)
c.771C>A (p.Ala257=)
c.540C>A (p.Ala180=)
4g.99420648G>ACA357497588ADH7c.710C>T (p.Ala237Val)
c.746C>T (p.Ala249Val)
c.770C>T (p.Ala257Val)
c.539C>T (p.Ala180Val)
 dbSNP gnomAD v2 gnomAD v4
4g.99420648G>CCA3020746ADH7c.710C>G (p.Ala237Gly)
c.746C>G (p.Ala249Gly)
c.770C>G (p.Ala257Gly)
c.539C>G (p.Ala180Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99420648G=CA1479994201ADH7c.710C= (p.Ala237=)
c.746C= (p.Ala249=)
c.770C= (p.Ala257=)
c.539C= (p.Ala180=)
4g.99420648G>TCA357497589ADH7c.710C>A (p.Ala237Asp)
c.746C>A (p.Ala249Asp)
c.770C>A (p.Ala257Asp)
c.539C>A (p.Ala180Asp)
4g.99420649C>ACA357497590ADH7c.709G>T (p.Ala237Ser)
c.745G>T (p.Ala249Ser)
c.769G>T (p.Ala257Ser)
c.538G>T (p.Ala180Ser)
 dbSNP
4g.99420649C=CA1479994203ADH7c.709G= (p.Ala237=)
c.745G= (p.Ala249=)
c.769G= (p.Ala257=)
c.538G= (p.Ala180=)
4g.99420649C>GCA357497591ADH7c.709G>C (p.Ala237Pro)
c.745G>C (p.Ala249Pro)
c.769G>C (p.Ala257Pro)
c.538G>C (p.Ala180Pro)
4g.99420649C>TCA357497592ADH7c.709G>A (p.Ala237Thr)
c.745G>A (p.Ala249Thr)
c.769G>A (p.Ala257Thr)
c.538G>A (p.Ala180Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.99420650A>CCA440506423ADH7c.708T>G (p.Gly236=)
c.744T>G (p.Gly248=)
c.768T>G (p.Gly256=)
c.537T>G (p.Gly179=)
4g.99420650A>GCA440506424ADH7c.708T>C (p.Gly236=)
c.744T>C (p.Gly248=)
c.768T>C (p.Gly256=)
c.537T>C (p.Gly179=)
4g.99420650A>TCA440506425ADH7c.708T>A (p.Gly236=)
c.744T>A (p.Gly248=)
c.768T>A (p.Gly256=)
c.537T>A (p.Gly179=)
4g.99420651C>ACA102645993ADH7c.707G>T (p.Gly236Val)
c.743G>T (p.Gly248Val)
c.767G>T (p.Gly256Val)
c.536G>T (p.Gly179Val)
 dbSNP gnomAD v3 gnomAD v4
4g.99420651C=CA1479994208ADH7c.707G= (p.Gly236=)
c.743G= (p.Gly248=)
c.767G= (p.Gly256=)
c.536G= (p.Gly179=)
4g.99420651C>GCA357497594ADH7c.707G>C (p.Gly236Ala)
c.743G>C (p.Gly248Ala)
c.767G>C (p.Gly256Ala)
c.536G>C (p.Gly179Ala)
4g.99420651C>TCA357497593ADH7c.707G>A (p.Gly236Asp)
c.743G>A (p.Gly248Asp)
c.767G>A (p.Gly256Asp)
c.536G>A (p.Gly179Asp)
 dbSNP
4g.99420652C>ACA357497596ADH7c.706G>T (p.Gly236Cys)
c.742G>T (p.Gly248Cys)
c.766G>T (p.Gly256Cys)
c.535G>T (p.Gly179Cys)
4g.99420652C=CA1479994212ADH7c.706G= (p.Gly236=)
c.742G= (p.Gly248=)
c.766G= (p.Gly256=)
c.535G= (p.Gly179=)
4g.99420652C>GCA357497595ADH7c.706G>C (p.Gly236Arg)
c.742G>C (p.Gly248Arg)
c.766G>C (p.Gly256Arg)
c.535G>C (p.Gly179Arg)
4g.99420652C>TCA102646020ADH7c.706G>A (p.Gly236Ser)
c.742G>A (p.Gly248Ser)
c.766G>A (p.Gly256Ser)
c.535G>A (p.Gly179Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420653T>ACA440506426ADH7c.705A>T (p.Val235=)
c.741A>T (p.Val247=)
c.765A>T (p.Val255=)
c.534A>T (p.Val178=)
4g.99420653T>CCA440506427ADH7c.705A>G (p.Val235=)
c.741A>G (p.Val247=)
c.765A>G (p.Val255=)
c.534A>G (p.Val178=)
 dbSNP gnomAD v3 gnomAD v4
4g.99420653T>GCA440506428ADH7c.705A>C (p.Val235=)
c.741A>C (p.Val247=)
c.765A>C (p.Val255=)
c.534A>C (p.Val178=)
4g.99420653T=CA1479994216ADH7c.705A= (p.Val235=)
c.741A= (p.Val247=)
c.765A= (p.Val255=)
c.534A= (p.Val178=)
4g.99420653dupCA2671525112ADH7c.705dup (p.Gly236ArgfsTer4)
c.741dup (p.Gly248ArgfsTer4)
c.765dup (p.Gly256ArgfsTer4)
c.534dup (p.Gly179ArgfsTer4)
 gnomAD v4
4g.99420654A>CCA357497597ADH7c.704T>G (p.Val235Gly)
c.740T>G (p.Val247Gly)
c.764T>G (p.Val255Gly)
c.533T>G (p.Val178Gly)
4g.99420654A>GCA357497598ADH7c.704T>C (p.Val235Ala)
c.740T>C (p.Val247Ala)
c.764T>C (p.Val255Ala)
c.533T>C (p.Val178Ala)
 gnomAD v4
4g.99420654A>TCA357497599ADH7c.704T>A (p.Val235Glu)
c.740T>A (p.Val247Glu)
c.764T>A (p.Val255Glu)
c.533T>A (p.Val178Glu)
 COSMIC COSMIC
4g.99420654_99420658dupCA1479994219ADH7c.700_704dup (p.Gly236LeufsTer2)
c.736_740dup (p.Gly248LeufsTer2)
c.760_764dup (p.Gly256LeufsTer2)
c.529_533dup (p.Gly179LeufsTer2)
 dbSNP
4g.99420655C>ACA357497602ADH7c.703G>T (p.Val235Leu)
c.739G>T (p.Val247Leu)
c.763G>T (p.Val255Leu)
c.532G>T (p.Val178Leu)
4g.99420655C=CA1479994222ADH7c.703G= (p.Val235=)
c.739G= (p.Val247=)
c.763G= (p.Val255=)
c.532G= (p.Val178=)
4g.99420655C>GCA357497601ADH7c.703G>C (p.Val235Leu)
c.739G>C (p.Val247Leu)
c.763G>C (p.Val255Leu)
c.532G>C (p.Val178Leu)
 dbSNP
4g.99420655C>TCA357497600ADH7c.703G>A (p.Val235Ile)
c.739G>A (p.Val247Ile)
c.763G>A (p.Val255Ile)
c.532G>A (p.Val178Ile)
 gnomAD v4
4g.99420656A=CA1479994226ADH7c.702T= (p.Ala234=)
c.738T= (p.Ala246=)
c.762T= (p.Ala254=)
c.531T= (p.Ala177=)
4g.99420656A>CCA440506429ADH7c.702T>G (p.Ala234=)
c.738T>G (p.Ala246=)
c.762T>G (p.Ala254=)
c.531T>G (p.Ala177=)
 dbSNP gnomAD v2 gnomAD v4
4g.99420656A>GCA440506430ADH7c.702T>C (p.Ala234=)
c.738T>C (p.Ala246=)
c.762T>C (p.Ala254=)
c.531T>C (p.Ala177=)
4g.99420656A>TCA440506431ADH7c.702T>A (p.Ala234=)
c.738T>A (p.Ala246=)
c.762T>A (p.Ala254=)
c.531T>A (p.Ala177=)
4g.99420657G>ACA3020747ADH7c.701C>T (p.Ala234Val)
c.737C>T (p.Ala246Val)
c.761C>T (p.Ala254Val)
c.530C>T (p.Ala177Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420657G>CCA357497603ADH7c.701C>G (p.Ala234Gly)
c.737C>G (p.Ala246Gly)
c.761C>G (p.Ala254Gly)
c.530C>G (p.Ala177Gly)
4g.99420657G=CA1479994231ADH7c.701C= (p.Ala234=)
c.737C= (p.Ala246=)
c.761C= (p.Ala254=)
c.530C= (p.Ala177=)
4g.99420657G>TCA357497604ADH7c.701C>A (p.Ala234Asp)
c.737C>A (p.Ala246Asp)
c.761C>A (p.Ala254Asp)
c.530C>A (p.Ala177Asp)
 dbSNP
4g.99420658C>ACA357497605ADH7c.700G>T (p.Ala234Ser)
c.736G>T (p.Ala246Ser)
c.760G>T (p.Ala254Ser)
c.529G>T (p.Ala177Ser)
 gnomAD v4
4g.99420658C>GCA357497606ADH7c.700G>C (p.Ala234Pro)
c.736G>C (p.Ala246Pro)
c.760G>C (p.Ala254Pro)
c.529G>C (p.Ala177Pro)
4g.99420658C>TCA357497607ADH7c.700G>A (p.Ala234Thr)
c.736G>A (p.Ala246Thr)
c.760G>A (p.Ala254Thr)
c.529G>A (p.Ala177Thr)
 gnomAD v4
4g.99420659C>ACA357497608ADH7c.699G>T (p.Met233Ile)
c.735G>T (p.Met245Ile)
c.759G>T (p.Met253Ile)
c.528G>T (p.Met176Ile)
 gnomAD v4
4g.99420659C=CA1479994234ADH7c.699G= (p.Met233=)
c.735G= (p.Met245=)
c.759G= (p.Met253=)
c.528G= (p.Met176=)
4g.99420659C>GCA357497610ADH7c.699G>C (p.Met233Ile)
c.735G>C (p.Met245Ile)
c.759G>C (p.Met253Ile)
c.528G>C (p.Met176Ile)
4g.99420659C>TCA357497609ADH7c.699G>A (p.Met233Ile)
c.735G>A (p.Met245Ile)
c.759G>A (p.Met253Ile)
c.528G>A (p.Met176Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99420660A>CCA357497611ADH7c.698T>G (p.Met233Arg)
c.734T>G (p.Met245Arg)
c.758T>G (p.Met253Arg)
c.527T>G (p.Met176Arg)
4g.99420660A>GCA357497612ADH7c.698T>C (p.Met233Thr)
c.734T>C (p.Met245Thr)
c.758T>C (p.Met253Thr)
c.527T>C (p.Met176Thr)
4g.99420660A>TCA357497613ADH7c.698T>A (p.Met233Lys)
c.734T>A (p.Met245Lys)
c.758T>A (p.Met253Lys)
c.527T>A (p.Met176Lys)
4g.99420661T>ACA357497614ADH7c.697A>T (p.Met233Leu)
c.733A>T (p.Met245Leu)
c.757A>T (p.Met253Leu)
c.526A>T (p.Met176Leu)
4g.99420661T>CCA3020748ADH7c.697A>G (p.Met233Val)
c.733A>G (p.Met245Val)
c.757A>G (p.Met253Val)
c.526A>G (p.Met176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420661T>GCA357497615ADH7c.697A>C (p.Met233Leu)
c.733A>C (p.Met245Leu)
c.757A>C (p.Met253Leu)
c.526A>C (p.Met176Leu)
4g.99420661T=CA1479994238ADH7c.697A= (p.Met233=)
c.733A= (p.Met245=)
c.757A= (p.Met253=)
c.526A= (p.Met176=)
4g.99420662G>ACA440506432ADH7c.696C>T (p.Ala232=)
c.732C>T (p.Ala244=)
c.756C>T (p.Ala252=)
c.525C>T (p.Ala175=)
4g.99420662G>CCA440506433ADH7c.696C>G (p.Ala232=)
c.732C>G (p.Ala244=)
c.756C>G (p.Ala252=)
c.525C>G (p.Ala175=)
4g.99420662G>TCA440506434ADH7c.696C>A (p.Ala232=)
c.732C>A (p.Ala244=)
c.756C>A (p.Ala252=)
c.525C>A (p.Ala175=)
4g.99420663delCA2671525113ADH7c.696del (p.Met233TrpfsTer3)
c.732del (p.Met245TrpfsTer3)
c.756del (p.Met253TrpfsTer3)
c.525del (p.Met176TrpfsTer3)
 gnomAD v4
4g.99420663G>ACA3020749ADH7c.695C>T (p.Ala232Val)
c.731C>T (p.Ala244Val)
c.755C>T (p.Ala252Val)
c.524C>T (p.Ala175Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99420663G>CCA357497616ADH7c.695C>G (p.Ala232Gly)
c.731C>G (p.Ala244Gly)
c.755C>G (p.Ala252Gly)
c.524C>G (p.Ala175Gly)
4g.99420663G=CA1479994241ADH7c.695C= (p.Ala232=)
c.731C= (p.Ala244=)
c.755C= (p.Ala252=)
c.524C= (p.Ala175=)
4g.99420663G>TCA357497617ADH7c.695C>A (p.Ala232Asp)
c.731C>A (p.Ala244Asp)
c.755C>A (p.Ala252Asp)
c.524C>A (p.Ala175Asp)

Number of alleles fetched