Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.33417816G>ACA408632559SNTA1c.604C>T (p.Pro202Ser)
n.837C>T
c.277C>T (p.Pro93Ser)
20g.33417816G>CCA408632560SNTA1c.604C>G (p.Pro202Ala)
n.837C>G
c.277C>G (p.Pro93Ala)
20g.33417816G>TCA408632562SNTA1c.604C>A (p.Pro202Thr)
n.837C>A
c.277C>A (p.Pro93Thr)
20g.33417817G>ACA510251278SNTA1c.603C>T (p.Ser201=)
n.836C>T
c.276C>T (p.Ser92=)
20g.33417817G>CCA510251279SNTA1c.603C>G (p.Ser201=)
n.836C>G
c.276C>G (p.Ser92=)
20g.33417817G>TCA510251280SNTA1c.603C>A (p.Ser201=)
n.836C>A
c.276C>A (p.Ser92=)
20g.33417818G>ACA408632563SNTA1c.602C>T (p.Ser201Phe)
n.835C>T
c.275C>T (p.Ser92Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33417818G>CCA408632565SNTA1c.602C>G (p.Ser201Cys)
n.835C>G
c.275C>G (p.Ser92Cys)
20g.33417818G=CA2360743992SNTA1c.602C= (p.Ser201=)
n.835C=
c.275C= (p.Ser92=)
20g.33417818G>TCA408632566SNTA1c.602C>A (p.Ser201Tyr)
n.835C>A
c.275C>A (p.Ser92Tyr)
dbSNP gnomAD v3 gnomAD v4
20g.33417819A=CA2360743993SNTA1c.601T= (p.Ser201=)
n.834T=
c.274T= (p.Ser92=)
20g.33417819A>CCA408632570SNTA1c.601T>G (p.Ser201Ala)
n.834T>G
c.274T>G (p.Ser92Ala)
20g.33417819A>GCA408632568SNTA1c.601T>C (p.Ser201Pro)
n.834T>C
c.274T>C (p.Ser92Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33417819A>TCA408632567SNTA1c.601T>A (p.Ser201Thr)
n.834T>A
c.274T>A (p.Ser92Thr)
20g.33417820G>ACA510251284SNTA1c.600C>T (p.Ser200=)
n.833C>T
c.273C>T (p.Ser91=)
dbSNP gnomAD v4
20g.33417820G>CCA510251285SNTA1c.600C>G (p.Ser200=)
n.833C>G
c.273C>G (p.Ser91=)
20g.33417820G=CA2360743994SNTA1c.600C= (p.Ser200=)
n.833C=
c.273C= (p.Ser91=)
20g.33417820G>TCA510251286SNTA1c.600C>A (p.Ser200=)
n.833C>A
c.273C>A (p.Ser91=)
20g.33417821G>ACA408632572SNTA1c.599C>T (p.Ser200Phe)
n.832C>T
c.272C>T (p.Ser91Phe)
20g.33417821G>CCA408632575SNTA1c.599C>G (p.Ser200Cys)
n.832C>G
c.272C>G (p.Ser91Cys)
20g.33417821G>TCA408632574SNTA1c.599C>A (p.Ser200Tyr)
n.832C>A
c.272C>A (p.Ser91Tyr)
20g.33417822A>CCA408632577SNTA1c.598T>G (p.Ser200Ala)
n.831T>G
c.271T>G (p.Ser91Ala)
20g.33417822A>GCA408632581SNTA1c.598T>C (p.Ser200Pro)
n.831T>C
c.271T>C (p.Ser91Pro)
20g.33417822A>TCA408632579SNTA1c.598T>A (p.Ser200Thr)
n.831T>A
c.271T>A (p.Ser91Thr)
20g.33417823A=CA2360743995SNTA1c.597T= (p.Pro199=)
n.830T=
c.270T= (p.Pro90=)
20g.33417823A>CCA9817186SNTA1c.597T>G (p.Pro199=)
n.830T>G
c.270T>G (p.Pro90=)
dbSNP ExAC gnomAD v2
20g.33417823A>GCA510251288SNTA1c.597T>C (p.Pro199=)
n.830T>C
c.270T>C (p.Pro90=)
20g.33417823A>TCA510251287SNTA1c.597T>A (p.Pro199=)
n.830T>A
c.270T>A (p.Pro90=)
20g.33417824G>ACA408632583SNTA1c.596C>T (p.Pro199Leu)
n.829C>T
c.269C>T (p.Pro90Leu)
20g.33417824G>CCA408632585SNTA1c.596C>G (p.Pro199Arg)
n.829C>G
c.269C>G (p.Pro90Arg)
20g.33417824G>TCA408632587SNTA1c.596C>A (p.Pro199His)
n.829C>A
c.269C>A (p.Pro90His)
20g.33417825G>ACA408632588SNTA1c.595C>T (p.Pro199Ser)
n.828C>T
c.268C>T (p.Pro90Ser)
dbSNP gnomAD v3 gnomAD v4
20g.33417825G>CCA408632590SNTA1c.595C>G (p.Pro199Ala)
n.828C>G
c.268C>G (p.Pro90Ala)
dbSNP gnomAD v2 gnomAD v4
20g.33417825G=CA2360743996SNTA1c.595C= (p.Pro199=)
n.828C=
c.268C= (p.Pro90=)
20g.33417825G>TCA408632591SNTA1c.595C>A (p.Pro199Thr)
n.828C>A
c.268C>A (p.Pro90Thr)
dbSNP gnomAD v2 gnomAD v4
20g.33417826C>ACA408632593SNTA1c.594G>T (p.Gln198His)
n.827G>T
c.267G>T (p.Gln89His)
20g.33417826C=CA2360743997SNTA1c.594G= (p.Gln198=)
n.827G=
c.267G= (p.Gln89=)
20g.33417826C>GCA408632595SNTA1c.594G>C (p.Gln198His)
n.827G>C
c.267G>C (p.Gln89His)
20g.33417826C>TCA510251291SNTA1c.594G>A (p.Gln198=)
n.827G>A
c.267G>A (p.Gln89=)
dbSNP
20g.33417827T>ACA408632597SNTA1c.593A>T (p.Gln198Leu)
n.826A>T
c.266A>T (p.Gln89Leu)
20g.33417827T>CCA408632599SNTA1c.593A>G (p.Gln198Arg)
n.826A>G
c.266A>G (p.Gln89Arg)
gnomAD v4
20g.33417827T>GCA408632600SNTA1c.593A>C (p.Gln198Pro)
n.826A>C
c.266A>C (p.Gln89Pro)
20g.33417828G>ACA408632605SNTA1c.592C>T (p.Gln198Ter)
n.825C>T
c.265C>T (p.Gln89Ter)
COSMIC
20g.33417828G>CCA408632602SNTA1c.592C>G (p.Gln198Glu)
n.825C>G
c.265C>G (p.Gln89Glu)
20g.33417828G>TCA408632604SNTA1c.592C>A (p.Gln198Lys)
n.825C>A
c.265C>A (p.Gln89Lys)
20g.33417829C>ACA510251295SNTA1c.591G>T (p.Arg197=)
n.824G>T
c.264G>T (p.Arg88=)
dbSNP gnomAD v2 gnomAD v4
20g.33417829C=CA2360743998SNTA1c.591G= (p.Arg197=)
n.824G=
c.264G= (p.Arg88=)
20g.33417829C>GCA510251297SNTA1c.591G>C (p.Arg197=)
n.824G>C
c.264G>C (p.Arg88=)
20g.33417829C>TCA510251296SNTA1c.591G>A (p.Arg197=)
n.824G>A
c.264G>A (p.Arg88=)
gnomAD v4
20g.33417830C>ACA408632607SNTA1c.590G>T (p.Arg197Leu)
n.823G>T
c.263G>T (p.Arg88Leu)
ClinVar
20g.33417830C=CA2360743999SNTA1c.590G= (p.Arg197=)
n.823G=
c.263G= (p.Arg88=)
20g.33417830C>GCA408632609SNTA1c.590G>C (p.Arg197Pro)
n.823G>C
c.263G>C (p.Arg88Pro)
20g.33417830C>TCA9817187SNTA1c.590G>A (p.Arg197Gln)
n.823G>A
c.263G>A (p.Arg88Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417831G>ACA346668SNTA1c.589C>T (p.Arg197Trp)
n.822C>T
c.262C>T (p.Arg88Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417831G>CCA408632610SNTA1c.589C>G (p.Arg197Gly)
n.822C>G
c.262C>G (p.Arg88Gly)
20g.33417831G=CA2360744000SNTA1c.589C= (p.Arg197=)
n.822C=
c.262C= (p.Arg88=)
20g.33417831G>TCA510251298SNTA1c.589C>A (p.Arg197=)
n.822C>A
c.262C>A (p.Arg88=)
20g.33417832C>ACA408632612SNTA1c.588G>T (p.Gln196His)
n.821G>T
c.261G>T (p.Gln87His)
20g.33417832C>GCA408632613SNTA1c.588G>C (p.Gln196His)
n.821G>C
c.261G>C (p.Gln87His)
20g.33417832C>TCA510251301SNTA1c.588G>A (p.Gln196=)
n.821G>A
c.261G>A (p.Gln87=)
20g.33417833T>ACA408632616SNTA1c.587A>T (p.Gln196Leu)
n.820A>T
c.260A>T (p.Gln87Leu)
20g.33417833T>CCA408632617SNTA1c.587A>G (p.Gln196Arg)
n.820A>G
c.260A>G (p.Gln87Arg)
20g.33417833T>GCA408632619SNTA1c.587A>C (p.Gln196Pro)
n.820A>C
c.260A>C (p.Gln87Pro)
20g.33417834G>ACA408632624SNTA1c.586C>T (p.Gln196Ter)
n.819C>T
c.259C>T (p.Gln87Ter)
20g.33417834G>CCA408632623SNTA1c.586C>G (p.Gln196Glu)
n.819C>G
c.259C>G (p.Gln87Glu)
20g.33417834G>TCA408632621SNTA1c.586C>A (p.Gln196Lys)
n.819C>A
c.259C>A (p.Gln87Lys)
20g.33417835A=CA2360744001SNTA1c.585T= (p.Leu195=)
n.818T=
c.258T= (p.Leu86=)
20g.33417835A>CCA9817188SNTA1c.585T>G (p.Leu195=)
n.818T>G
c.258T>G (p.Leu86=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33417835A>GCA510251303SNTA1c.585T>C (p.Leu195=)
n.818T>C
c.258T>C (p.Leu86=)
20g.33417835A>TCA510251304SNTA1c.585T>A (p.Leu195=)
n.818T>A
c.258T>A (p.Leu86=)
20g.33417836A>CCA408632627SNTA1c.584T>G (p.Leu195Arg)
n.817T>G
c.257T>G (p.Leu86Arg)
20g.33417836A>GCA408632628SNTA1c.584T>C (p.Leu195Pro)
n.817T>C
c.257T>C (p.Leu86Pro)
20g.33417836A>TCA408632629SNTA1c.584T>A (p.Leu195His)
n.817T>A
c.257T>A (p.Leu86His)
20g.33417836_33417837delinsAGCA2360744002SNTA1c.583_584delinsCT (p.Leu195=)
n.816_817delinsCT
c.256_257delinsCT (p.Leu86=)
20g.33417837G>ACA408632632SNTA1c.583C>T (p.Leu195Phe)
n.816C>T
c.256C>T (p.Leu86Phe)
20g.33417837G>CCA408632633SNTA1c.583C>G (p.Leu195Val)
n.816C>G
c.256C>G (p.Leu86Val)
20g.33417837G>TCA408632635SNTA1c.583C>A (p.Leu195Ile)
n.816C>A
c.256C>A (p.Leu86Ile)
20g.33417840delCA743716307SNTA1c.583del (p.Leu195PhefsTer23)
n.816del
c.256del (p.Leu86PhefsTer23)
dbSNP gnomAD v4
20g.33417838G>ACA9817189SNTA1c.582C>T (p.Pro194=)
n.815C>T
c.255C>T (p.Pro85=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417838G>CCA510251305SNTA1c.582C>G (p.Pro194=)
n.815C>G
c.255C>G (p.Pro85=)
20g.33417838G=CA2360744003SNTA1c.582C= (p.Pro194=)
n.815C=
c.255C= (p.Pro85=)
20g.33417838G>TCA510251306SNTA1c.582C>A (p.Pro194=)
n.815C>A
c.255C>A (p.Pro85=)
20g.33417839G>ACA408632637SNTA1c.581C>T (p.Pro194Leu)
n.814C>T
c.254C>T (p.Pro85Leu)
gnomAD v4
20g.33417839G>CCA408632639SNTA1c.581C>G (p.Pro194Arg)
n.814C>G
c.254C>G (p.Pro85Arg)
20g.33417839G>TCA408632640SNTA1c.581C>A (p.Pro194His)
n.814C>A
c.254C>A (p.Pro85His)
20g.33417840G>ACA408632645SNTA1c.580C>T (p.Pro194Ser)
n.813C>T
c.253C>T (p.Pro85Ser)
20g.33417840G>CCA408632643SNTA1c.580C>G (p.Pro194Ala)
n.813C>G
c.253C>G (p.Pro85Ala)
20g.33417840G=CA2360744004SNTA1c.580C= (p.Pro194=)
n.813C=
c.253C= (p.Pro85=)
20g.33417840G>TCA408632642SNTA1c.580C>A (p.Pro194Thr)
n.813C>A
c.253C>A (p.Pro85Thr)
dbSNP gnomAD v4
20g.33417841T>ACA510251307SNTA1c.579A>T (p.Ser193=)
n.812A>T
c.252A>T (p.Ser84=)
20g.33417841T>CCA510251308SNTA1c.579A>G (p.Ser193=)
n.812A>G
c.252A>G (p.Ser84=)
20g.33417841T>GCA510251309SNTA1c.579A>C (p.Ser193=)
n.812A>C
c.252A>C (p.Ser84=)
20g.33417842G>ACA408632647SNTA1c.578C>T (p.Ser193Leu)
n.811C>T
c.251C>T (p.Ser84Leu)
20g.33417842G>CCA408632649SNTA1c.578C>G (p.Ser193Ter)
n.811C>G
c.251C>G (p.Ser84Ter)
20g.33417842G>TCA408632650SNTA1c.578C>A (p.Ser193Ter)
n.811C>A
c.251C>A (p.Ser84Ter)
20g.33417843A=CA2360744005SNTA1c.577T= (p.Ser193=)
n.810T=
c.250T= (p.Ser84=)
20g.33417843A>CCA408632652SNTA1c.577T>G (p.Ser193Ala)
n.810T>G
c.250T>G (p.Ser84Ala)
20g.33417843A>GCA408632654SNTA1c.577T>C (p.Ser193Pro)
n.810T>C
c.250T>C (p.Ser84Pro)
dbSNP gnomAD v3 gnomAD v4
20g.33417843A>TCA408632655SNTA1c.577T>A (p.Ser193Thr)
n.810T>A
c.250T>A (p.Ser84Thr)
20g.33417844G>ACA510251311SNTA1c.576C>T (p.Ala192=)
n.809C>T
c.249C>T (p.Ala83=)
20g.33417844G>CCA510251313SNTA1c.576C>G (p.Ala192=)
n.809C>G
c.249C>G (p.Ala83=)
20g.33417844G>TCA510251312SNTA1c.576C>A (p.Ala192=)
n.809C>A
c.249C>A (p.Ala83=)
20g.33417845G>ACA408632656SNTA1c.575C>T (p.Ala192Val)
n.808C>T
c.248C>T (p.Ala83Val)
20g.33417845G>CCA408632657SNTA1c.575C>G (p.Ala192Gly)
n.808C>G
c.248C>G (p.Ala83Gly)
20g.33417845G>TCA408632658SNTA1c.575C>A (p.Ala192Asp)
n.808C>A
c.248C>A (p.Ala83Asp)
20g.33417846C>ACA408632659SNTA1c.574G>T (p.Ala192Ser)
n.807G>T
c.247G>T (p.Ala83Ser)
gnomAD v4
20g.33417846C>GCA408632660SNTA1c.574G>C (p.Ala192Pro)
n.807G>C
c.247G>C (p.Ala83Pro)
20g.33417846C>TCA408632662SNTA1c.574G>A (p.Ala192Thr)
n.807G>A
c.247G>A (p.Ala83Thr)
20g.33417847A=CA2360744006SNTA1c.573T= (p.Pro191=)
n.806T=
c.246T= (p.Pro82=)
20g.33417847A>CCA510251315SNTA1c.573T>G (p.Pro191=)
n.806T>G
c.246T>G (p.Pro82=)
dbSNP gnomAD v2 gnomAD v4
20g.33417847A>GCA510251317SNTA1c.573T>C (p.Pro191=)
n.806T>C
c.246T>C (p.Pro82=)
20g.33417847A>TCA510251318SNTA1c.573T>A (p.Pro191=)
n.806T>A
c.246T>A (p.Pro82=)
20g.33417850_33417852delCA2652477637SNTA1c.571_573del (p.Pro191del)
n.804_806del
c.244_246del (p.Pro82del)
gnomAD v4
20g.33417848G>ACA408632667SNTA1c.572C>T (p.Pro191Leu)
n.805C>T
c.245C>T (p.Pro82Leu)
gnomAD v4
20g.33417848G>CCA408632665SNTA1c.572C>G (p.Pro191Arg)
n.805C>G
c.245C>G (p.Pro82Arg)
20g.33417848G>TCA408632664SNTA1c.572C>A (p.Pro191His)
n.805C>A
c.245C>A (p.Pro82His)
20g.33417849G>ACA408632669SNTA1c.571C>T (p.Pro191Ser)
n.804C>T
c.244C>T (p.Pro82Ser)
ClinVar gnomAD v4
20g.33417849G>CCA408632672SNTA1c.571C>G (p.Pro191Ala)
n.804C>G
c.244C>G (p.Pro82Ala)
20g.33417849G>TCA408632671SNTA1c.571C>A (p.Pro191Thr)
n.804C>A
c.244C>A (p.Pro82Thr)
20g.33417850A>CCA510251320SNTA1c.570T>G (p.Pro190=)
n.803T>G
c.243T>G (p.Pro81=)
20g.33417850A>GCA510251321SNTA1c.570T>C (p.Pro190=)
n.803T>C
c.243T>C (p.Pro81=)
20g.33417850A>TCA510251322SNTA1c.570T>A (p.Pro190=)
n.803T>A
c.243T>A (p.Pro81=)
20g.33417851G>ACA408632674SNTA1c.569C>T (p.Pro190Leu)
n.802C>T
c.242C>T (p.Pro81Leu)
20g.33417851G>CCA408632676SNTA1c.569C>G (p.Pro190Arg)
n.802C>G
c.242C>G (p.Pro81Arg)
20g.33417851G>TCA408632678SNTA1c.569C>A (p.Pro190His)
n.802C>A
c.242C>A (p.Pro81His)
20g.33417852G>ACA408632680SNTA1c.568C>T (p.Pro190Ser)
n.801C>T
c.241C>T (p.Pro81Ser)
20g.33417852G>CCA408632682SNTA1c.568C>G (p.Pro190Ala)
n.801C>G
c.241C>G (p.Pro81Ala)
dbSNP gnomAD v2 gnomAD v4
20g.33417852G=CA2360744007SNTA1c.568C= (p.Pro190=)
n.801C=
c.241C= (p.Pro81=)
20g.33417852G>TCA408632683SNTA1c.568C>A (p.Pro190Thr)
n.801C>A
c.241C>A (p.Pro81Thr)
20g.33417853T>ACA9817190SNTA1c.567A>T (p.Ser189=)
n.800A>T
c.240A>T (p.Ser80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417853T>CCA510251324SNTA1c.567A>G (p.Ser189=)
n.800A>G
c.240A>G (p.Ser80=)
20g.33417853T>GCA10587923SNTA1c.567A>C (p.Ser189=)
n.800A>C
c.240A>C (p.Ser80=)
ClinVar dbSNP
20g.33417853T=CA2360744008SNTA1c.567A= (p.Ser189=)
n.800A=
c.240A= (p.Ser80=)
20g.33417854G>ACA9817191SNTA1c.566C>T (p.Ser189Leu)
n.799C>T
c.239C>T (p.Ser80Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417854G>CCA408632686SNTA1c.566C>G (p.Ser189Ter)
n.799C>G
c.239C>G (p.Ser80Ter)
20g.33417854G=CA2360744009SNTA1c.566C= (p.Ser189=)
n.799C=
c.239C= (p.Ser80=)
20g.33417854G>TCA408632688SNTA1c.566C>A (p.Ser189Ter)
n.799C>A
c.239C>A (p.Ser80Ter)
20g.33417855A=CA2360744010SNTA1c.565T= (p.Ser189=)
n.798T=
c.238T= (p.Ser80=)
20g.33417855A>CCA408632693SNTA1c.565T>G (p.Ser189Ala)
n.798T>G
c.238T>G (p.Ser80Ala)
20g.33417855A>GCA408632689SNTA1c.565T>C (p.Ser189Pro)
n.798T>C
c.238T>C (p.Ser80Pro)
dbSNP gnomAD v3 gnomAD v4
20g.33417855A>TCA408632691SNTA1c.565T>A (p.Ser189Thr)
n.798T>A
c.238T>A (p.Ser80Thr)
20g.33417856G>ACA510251327SNTA1c.564C>T (p.Asp188=)
n.797C>T
c.237C>T (p.Asp79=)
20g.33417856G>CCA408632695SNTA1c.564C>G (p.Asp188Glu)
n.797C>G
c.237C>G (p.Asp79Glu)
20g.33417856G>TCA408632696SNTA1c.564C>A (p.Asp188Glu)
n.797C>A
c.237C>A (p.Asp79Glu)
20g.33417857T>ACA408632697SNTA1c.563A>T (p.Asp188Val)
n.796A>T
c.236A>T (p.Asp79Val)
20g.33417857T>CCA408632699SNTA1c.563A>G (p.Asp188Gly)
n.796A>G
c.236A>G (p.Asp79Gly)
20g.33417857T>GCA408632701SNTA1c.563A>C (p.Asp188Ala)
n.796A>C
c.236A>C (p.Asp79Ala)
dbSNP
20g.33417857T=CA2360744011SNTA1c.563A= (p.Asp188=)
n.796A=
c.236A= (p.Asp79=)
20g.33417858C>ACA9817192SNTA1c.562G>T (p.Asp188Tyr)
n.795G>T
c.235G>T (p.Asp79Tyr)
ClinVar dbSNP ExAC gnomAD v4
20g.33417858C=CA2360744012SNTA1c.562G= (p.Asp188=)
n.795G=
c.235G= (p.Asp79=)
20g.33417858C>GCA408632703SNTA1c.562G>C (p.Asp188His)
n.795G>C
c.235G>C (p.Asp79His)
20g.33417858C>TCA408632704SNTA1c.562G>A (p.Asp188Asn)
n.795G>A
c.235G>A (p.Asp79Asn)
gnomAD v4
20g.33417859C>ACA408632705SNTA1c.561G>T (p.Trp187Cys)
n.794G>T
c.234G>T (p.Trp78Cys)
20g.33417859C>GCA408632706SNTA1c.561G>C (p.Trp187Cys)
n.794G>C
c.234G>C (p.Trp78Cys)
20g.33417859C>TCA408632708SNTA1c.561G>A (p.Trp187Ter)
n.794G>A
c.234G>A (p.Trp78Ter)
20g.33417860C>ACA408632712SNTA1c.560G>T (p.Trp187Leu)
n.793G>T
c.233G>T (p.Trp78Leu)
20g.33417860C>GCA408632713SNTA1c.560G>C (p.Trp187Ser)
n.793G>C
c.233G>C (p.Trp78Ser)
20g.33417860C>TCA408632710SNTA1c.560G>A (p.Trp187Ter)
n.793G>A
c.233G>A (p.Trp78Ter)
gnomAD v4
20g.33417861A=CA2360744013SNTA1c.559T= (p.Trp187=)
n.792T=
c.232T= (p.Trp78=)
20g.33417861A>CCA408632716SNTA1c.559T>G (p.Trp187Gly)
n.792T>G
c.232T>G (p.Trp78Gly)
dbSNP
20g.33417861A>GCA408632717SNTA1c.559T>C (p.Trp187Arg)
n.792T>C
c.232T>C (p.Trp78Arg)
gnomAD v4
20g.33417861A>TCA408632719SNTA1c.559T>A (p.Trp187Arg)
n.792T>A
c.232T>A (p.Trp78Arg)
20g.33417862G>ACA510251336SNTA1c.558C>T (p.Gly186=)
n.791C>T
c.231C>T (p.Gly77=)
20g.33417862G>CCA510251337SNTA1c.558C>G (p.Gly186=)
n.791C>G
c.231C>G (p.Gly77=)
20g.33417862G>TCA510251338SNTA1c.558C>A (p.Gly186=)
n.791C>A
c.231C>A (p.Gly77=)
20g.33417863C>ACA408632721SNTA1c.557G>T (p.Gly186Val)
n.790G>T
c.230G>T (p.Gly77Val)
gnomAD v4
20g.33417863C=CA2360744014SNTA1c.557G= (p.Gly186=)
n.790G=
c.230G= (p.Gly77=)
20g.33417863C>GCA408632722SNTA1c.557G>C (p.Gly186Ala)
n.790G>C
c.230G>C (p.Gly77Ala)
20g.33417863C>TCA313261099SNTA1c.557G>A (p.Gly186Asp)
n.790G>A
c.230G>A (p.Gly77Asp)
dbSNP gnomAD v4 COSMIC
20g.33417864C>ACA408632724SNTA1c.556G>T (p.Gly186Cys)
n.789G>T
c.229G>T (p.Gly77Cys)
20g.33417864C=CA2360744015SNTA1c.556G= (p.Gly186=)
n.789G=
c.229G= (p.Gly77=)
20g.33417864C>GCA408632726SNTA1c.556G>C (p.Gly186Arg)
n.789G>C
c.229G>C (p.Gly77Arg)
20g.33417864C>TCA302330SNTA1c.556G>A (p.Gly186Ser)
n.789G>A
c.229G>A (p.Gly77Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417864_33417865insCAAACACACCCAACA2816179720SNTA1c.555_556insTTGGGTGTGTTTG (p.Gly186LeufsTer?)
n.788_789insTTGGGTGTGTTTG
c.228_229insTTGGGTGTGTTTG (p.Gly77LeufsTer?)
20g.33417865G>ACA9817193SNTA1c.555C>T (p.Val185=)
n.788C>T
c.228C>T (p.Val76=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417865G>CCA510251343SNTA1c.555C>G (p.Val185=)
n.788C>G
c.228C>G (p.Val76=)
gnomAD v4
20g.33417865G=CA2360744016SNTA1c.555C= (p.Val185=)
n.788C=
c.228C= (p.Val76=)
20g.33417865G>TCA510251342SNTA1c.555C>A (p.Val185=)
n.788C>A
c.228C>A (p.Val76=)
gnomAD v4
20g.33417866A>CCA408632729SNTA1c.554T>G (p.Val185Gly)
n.787T>G
c.227T>G (p.Val76Gly)
20g.33417866A>GCA408632731SNTA1c.554T>C (p.Val185Ala)
n.787T>C
c.227T>C (p.Val76Ala)
20g.33417866A>TCA408632733SNTA1c.554T>A (p.Val185Asp)
n.787T>A
c.227T>A (p.Val76Asp)
20g.33417867C>ACA408632738SNTA1c.553G>T (p.Val185Phe)
n.786G>T
c.226G>T (p.Val76Phe)
20g.33417867C=CA2360744017SNTA1c.553G= (p.Val185=)
n.786G=
c.226G= (p.Val76=)
20g.33417867C>GCA408632736SNTA1c.553G>C (p.Val185Leu)
n.786G>C
c.226G>C (p.Val76Leu)
dbSNP
20g.33417867C>TCA408632735SNTA1c.553G>A (p.Val185Ile)
n.786G>A
c.226G>A (p.Val76Ile)
20g.33417868C>ACA313261109SNTA1c.552G>T (p.Ser184=)
n.785G>T
c.225G>T (p.Ser75=)
dbSNP gnomAD v4
20g.33417868C=CA2360744018SNTA1c.552G= (p.Ser184=)
n.785G=
c.225G= (p.Ser75=)
20g.33417868C>GCA510251349SNTA1c.552G>C (p.Ser184=)
n.785G>C
c.225G>C (p.Ser75=)
gnomAD v4
20g.33417868C>TCA16608348SNTA1c.552G>A (p.Ser184=)
n.785G>A
c.225G>A (p.Ser75=)
ClinVar dbSNP gnomAD v4 COSMIC
20g.33417869G>ACA9817194SNTA1c.551C>T (p.Ser184Leu)
n.784C>T
c.224C>T (p.Ser75Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417869G>CCA408632742SNTA1c.551C>G (p.Ser184Trp)
n.784C>G
c.224C>G (p.Ser75Trp)
20g.33417869G=CA2360744019SNTA1c.551C= (p.Ser184=)
n.784C=
c.224C= (p.Ser75=)
20g.33417869G>TCA408632743SNTA1c.551C>A (p.Ser184Ter)
n.784C>A
c.224C>A (p.Ser75Ter)
20g.33417870A=CA2360744020SNTA1c.550T= (p.Ser184=)
n.783T=
c.223T= (p.Ser75=)
20g.33417870A>CCA408632745SNTA1c.550T>G (p.Ser184Ala)
n.783T>G
c.223T>G (p.Ser75Ala)
20g.33417870A>GCA408632747SNTA1c.550T>C (p.Ser184Pro)
n.783T>C
c.223T>C (p.Ser75Pro)
20g.33417870A>TCA408632748SNTA1c.550T>A (p.Ser184Thr)
n.783T>A
c.223T>A (p.Ser75Thr)
dbSNP
20g.33417871G>ACA510251353SNTA1c.549C>T (p.Thr183=)
n.782C>T
c.222C>T (p.Thr74=)
dbSNP gnomAD v3 gnomAD v4
20g.33417871G>CCA510251356SNTA1c.549C>G (p.Thr183=)
n.782C>G
c.222C>G (p.Thr74=)
20g.33417871G=CA2360744021SNTA1c.549C= (p.Thr183=)
n.782C=
c.222C= (p.Thr74=)
20g.33417871G>TCA510251354SNTA1c.549C>A (p.Thr183=)
n.782C>A
c.222C>A (p.Thr74=)
20g.33417872G>ACA408632750SNTA1c.548C>T (p.Thr183Ile)
n.781C>T
c.221C>T (p.Thr74Ile)
20g.33417872G>CCA408632751SNTA1c.548C>G (p.Thr183Ser)
n.781C>G
c.221C>G (p.Thr74Ser)
20g.33417872G>TCA408632753SNTA1c.548C>A (p.Thr183Asn)
n.781C>A
c.221C>A (p.Thr74Asn)
20g.33417873T>ACA408632755SNTA1c.547A>T (p.Thr183Ser)
n.780A>T
c.220A>T (p.Thr74Ser)
20g.33417873T>CCA408632756SNTA1c.547A>G (p.Thr183Ala)
n.780A>G
c.220A>G (p.Thr74Ala)
20g.33417873T>GCA408632758SNTA1c.547A>C (p.Thr183Pro)
n.780A>C
c.220A>C (p.Thr74Pro)
dbSNP gnomAD v4
20g.33417873T=CA2360744022SNTA1c.547A= (p.Thr183=)
n.780A=
c.220A= (p.Thr74=)
20g.33417874C>ACA510251358SNTA1c.546G>T (p.Gly182=)
n.779G>T
c.219G>T (p.Gly73=)
20g.33417874C=CA2360744023SNTA1c.546G= (p.Gly182=)
n.779G=
c.219G= (p.Gly73=)
20g.33417874C>GCA510251359SNTA1c.546G>C (p.Gly182=)
n.779G>C
c.219G>C (p.Gly73=)
20g.33417874C>TCA510251360SNTA1c.546G>A (p.Gly182=)
n.779G>A
c.219G>A (p.Gly73=)
dbSNP gnomAD v2
20g.33417875C>ACA408632762SNTA1c.545G>T (p.Gly182Val)
n.778G>T
c.218G>T (p.Gly73Val)
20g.33417875C>GCA408632763SNTA1c.545G>C (p.Gly182Ala)
n.778G>C
c.218G>C (p.Gly73Ala)
20g.33417875C>TCA408632760SNTA1c.545G>A (p.Gly182Glu)
n.778G>A
c.218G>A (p.Gly73Glu)
gnomAD v4
20g.33417876C>ACA408632767SNTA1c.544G>T (p.Gly182Trp)
n.777G>T
c.217G>T (p.Gly73Trp)
20g.33417876C=CA2360744024SNTA1c.544G= (p.Gly182=)
n.777G=
c.217G= (p.Gly73=)
20g.33417876C>GCA408632765SNTA1c.544G>C (p.Gly182Arg)
n.777G>C
c.217G>C (p.Gly73Arg)
20g.33417876C>TCA236843SNTA1c.544G>A (p.Gly182Arg)
n.777G>A
c.217G>A (p.Gly73Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417877A=CA2360744025SNTA1c.543T= (p.Gly181=)
n.776T=
c.216T= (p.Gly72=)
20g.33417877A>CCA510251365SNTA1c.543T>G (p.Gly181=)
n.776T>G
c.216T>G (p.Gly72=)
20g.33417877A>GCA510251366SNTA1c.543T>C (p.Gly181=)
n.776T>C
c.216T>C (p.Gly72=)
dbSNP
20g.33417877A>TCA510251367SNTA1c.543T>A (p.Gly181=)
n.776T>A
c.216T>A (p.Gly72=)
20g.33417878C>ACA408632769SNTA1c.542G>T (p.Gly181Val)
n.775G>T
c.215G>T (p.Gly72Val)
dbSNP gnomAD v3 gnomAD v4
20g.33417878C=CA2360744026SNTA1c.542G= (p.Gly181=)
n.775G=
c.215G= (p.Gly72=)
20g.33417878C>GCA9817195SNTA1c.542G>C (p.Gly181Ala)
n.775G>C
c.215G>C (p.Gly72Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417878C>TCA408632772SNTA1c.542G>A (p.Gly181Asp)
n.775G>A
c.215G>A (p.Gly72Asp)
20g.33417879C>ACA408632773SNTA1c.541G>T (p.Gly181Cys)
n.774G>T
c.214G>T (p.Gly72Cys)
20g.33417879C>GCA408632775SNTA1c.541G>C (p.Gly181Arg)
n.774G>C
c.214G>C (p.Gly72Arg)
gnomAD v4
20g.33417879C>TCA408632777SNTA1c.541G>A (p.Gly181Ser)
n.774G>A
c.214G>A (p.Gly72Ser)
20g.33417880A=CA2360744027SNTA1c.540T= (p.Thr180=)
n.773T=
c.213T= (p.Thr71=)
20g.33417880A>CCA510251371SNTA1c.540T>G (p.Thr180=)
n.773T>G
c.213T>G (p.Thr71=)
20g.33417880A>GCA510251372SNTA1c.540T>C (p.Thr180=)
n.773T>C
c.213T>C (p.Thr71=)
ClinVar dbSNP gnomAD v4
20g.33417880A>TCA510251374SNTA1c.540T>A (p.Thr180=)
n.773T>A
c.213T>A (p.Thr71=)
20g.33417881G>ACA408632779SNTA1c.539C>T (p.Thr180Ile)
n.772C>T
c.212C>T (p.Thr71Ile)
gnomAD v4
20g.33417881G>CCA408632780SNTA1c.539C>G (p.Thr180Ser)
n.772C>G
c.212C>G (p.Thr71Ser)
20g.33417881G>TCA408632782SNTA1c.539C>A (p.Thr180Asn)
n.772C>A
c.212C>A (p.Thr71Asn)
gnomAD v4
20g.33417882T>ACA408632784SNTA1c.538A>T (p.Thr180Ser)
n.771A>T
c.211A>T (p.Thr71Ser)
20g.33417882T>CCA9817196SNTA1c.538A>G (p.Thr180Ala)
n.771A>G
c.211A>G (p.Thr71Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.33417882T>GCA408632785SNTA1c.538A>C (p.Thr180Pro)
n.771A>C
c.211A>C (p.Thr71Pro)
20g.33417882T=CA2360744028SNTA1c.538A= (p.Thr180=)
n.771A=
c.211A= (p.Thr71=)
20g.33417883delCA2652477691SNTA1c.537del (p.Thr180LeufsTer?)
n.770del
c.210del (p.Thr71LeufsTer?)
gnomAD v4
20g.33417883A=CA2360744029SNTA1c.537T= (p.Ser179=)
n.770T=
c.210T= (p.Ser70=)
20g.33417883A>CCA510251376SNTA1c.537T>G (p.Ser179=)
n.770T>G
c.210T>G (p.Ser70=)
gnomAD v4
20g.33417883A>GCA510251377SNTA1c.537T>C (p.Ser179=)
n.770T>C
c.210T>C (p.Ser70=)
20g.33417883A>TCA9817197SNTA1c.537T>A (p.Ser179=)
n.770T>A
c.210T>A (p.Ser70=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33417884G>ACA408632787SNTA1c.536C>T (p.Ser179Phe)
n.769C>T
c.209C>T (p.Ser70Phe)
20g.33417884G>CCA408632789SNTA1c.536C>G (p.Ser179Cys)
n.769C>G
c.209C>G (p.Ser70Cys)
dbSNP gnomAD v2 gnomAD v4
20g.33417884G=CA2360744030SNTA1c.536C= (p.Ser179=)
n.769C=
c.209C= (p.Ser70=)
20g.33417884G>TCA408632791SNTA1c.536C>A (p.Ser179Tyr)
n.769C>A
c.209C>A (p.Ser70Tyr)
20g.33417885A=CA2360744031SNTA1c.535T= (p.Ser179=)
n.768T=
c.208T= (p.Ser70=)
20g.33417885A>CCA408632792SNTA1c.535T>G (p.Ser179Ala)
n.768T>G
c.208T>G (p.Ser70Ala)
dbSNP gnomAD v3 gnomAD v4
20g.33417885A>GCA408632793SNTA1c.535T>C (p.Ser179Pro)
n.768T>C
c.208T>C (p.Ser70Pro)
20g.33417885A>TCA408632795SNTA1c.535T>A (p.Ser179Thr)
n.768T>A
c.208T>A (p.Ser70Thr)
20g.33417886G>ACA510251381SNTA1c.534C>T (p.Asn178=)
n.767C>T
c.207C>T (p.Asn69=)
dbSNP gnomAD v2 gnomAD v4
20g.33417886G>CCA408632797SNTA1c.534C>G (p.Asn178Lys)
n.767C>G
c.207C>G (p.Asn69Lys)
20g.33417886G=CA2360744032SNTA1c.534C= (p.Asn178=)
n.767C=
c.207C= (p.Asn69=)
20g.33417886G>TCA313261170SNTA1c.534C>A (p.Asn178Lys)
n.767C>A
c.207C>A (p.Asn69Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33417887T>ACA408632800SNTA1c.533A>T (p.Asn178Ile)
n.766A>T
c.206A>T (p.Asn69Ile)
20g.33417887T>CCA313261172SNTA1c.533A>G (p.Asn178Ser)
n.766A>G
c.206A>G (p.Asn69Ser)
dbSNP gnomAD v3 gnomAD v4
20g.33417887T>GCA408632802SNTA1c.533A>C (p.Asn178Thr)
n.766A>C
c.206A>C (p.Asn69Thr)
20g.33417887T=CA2360744033SNTA1c.533A= (p.Asn178=)
n.766A=
c.206A= (p.Asn69=)
20g.33417888T>ACA408632806SNTA1c.532A>T (p.Asn178Tyr)
n.765A>T
c.205A>T (p.Asn69Tyr)
20g.33417888T>CCA408632807SNTA1c.532A>G (p.Asn178Asp)
n.765A>G
c.205A>G (p.Asn69Asp)
20g.33417888T>GCA408632804SNTA1c.532A>C (p.Asn178His)
n.765A>C
c.205A>C (p.Asn69His)
dbSNP gnomAD v2 gnomAD v4
20g.33417888T=CA2360744034SNTA1c.532A= (p.Asn178=)
n.765A=
c.205A= (p.Asn69=)
20g.33417889C>ACA408632809SNTA1c.531G>T (p.Lys177Asn)
n.764G>T
c.204G>T (p.Lys68Asn)
dbSNP gnomAD v4
20g.33417889C=CA2360744035SNTA1c.531G= (p.Lys177=)
n.764G=
c.204G= (p.Lys68=)
20g.33417889C>GCA408632810SNTA1c.531G>C (p.Lys177Asn)
n.764G>C
c.204G>C (p.Lys68Asn)
20g.33417889C>TCA510251389SNTA1c.531G>A (p.Lys177=)
n.764G>A
c.204G>A (p.Lys68=)
20g.33417890T>ACA408632813SNTA1c.530A>T (p.Lys177Met)
n.763A>T
c.203A>T (p.Lys68Met)
20g.33417890T>CCA408632814SNTA1c.530A>G (p.Lys177Arg)
n.763A>G
c.203A>G (p.Lys68Arg)
gnomAD v4
20g.33417890T>GCA408632816SNTA1c.530A>C (p.Lys177Thr)
n.763A>C
c.203A>C (p.Lys68Thr)
20g.33417891T>ACA408632821SNTA1c.529A>T (p.Lys177Ter)
n.762A>T
c.202A>T (p.Lys68Ter)
20g.33417891T>CCA408632817SNTA1c.529A>G (p.Lys177Glu)
n.762A>G
c.202A>G (p.Lys68Glu)
20g.33417891T>GCA408632819SNTA1c.529A>C (p.Lys177Gln)
n.762A>C
c.202A>C (p.Lys68Gln)
20g.33417892G>ACA510251393SNTA1c.528C>T (p.Phe176=)
n.761C>T
c.201C>T (p.Phe67=)
dbSNP gnomAD v4
20g.33417892G>CCA408632822SNTA1c.528C>G (p.Phe176Leu)
n.761C>G
c.201C>G (p.Phe67Leu)
20g.33417892G=CA2360744036SNTA1c.528C= (p.Phe176=)
n.761C=
c.201C= (p.Phe67=)
20g.33417892G>TCA408632824SNTA1c.528C>A (p.Phe176Leu)
n.761C>A
c.201C>A (p.Phe67Leu)
20g.33417893A>CCA408632826SNTA1c.527T>G (p.Phe176Cys)
n.760T>G
c.200T>G (p.Phe67Cys)
20g.33417893A>GCA408632827SNTA1c.527T>C (p.Phe176Ser)
n.760T>C
c.200T>C (p.Phe67Ser)
20g.33417893A>TCA408632828SNTA1c.527T>A (p.Phe176Tyr)
n.760T>A
c.200T>A (p.Phe67Tyr)
20g.33417894A=CA2360744037SNTA1c.526T= (p.Phe176=)
n.759T=
c.199T= (p.Phe67=)
20g.33417894A>CCA408632829SNTA1c.526T>G (p.Phe176Val)
n.759T>G
c.199T>G (p.Phe67Val)
20g.33417894A>GCA302258SNTA1c.526T>C (p.Phe176Leu)
n.759T>C
c.199T>C (p.Phe67Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417894A>TCA408632831SNTA1c.526T>A (p.Phe176Ile)
n.759T>A
c.199T>A (p.Phe67Ile)
20g.33417895A>CCA408632832SNTA1c.525T>G (p.Tyr175Ter)
n.758T>G
c.198T>G (p.Tyr66Ter)
20g.33417895A>GCA510251395SNTA1c.525T>C (p.Tyr175=)
n.758T>C
c.198T>C (p.Tyr66=)
20g.33417895A>TCA408632833SNTA1c.525T>A (p.Tyr175Ter)
n.758T>A
c.198T>A (p.Tyr66Ter)
20g.33417896T>ACA408632835SNTA1c.524A>T (p.Tyr175Phe)
n.757A>T
c.197A>T (p.Tyr66Phe)
20g.33417896T>CCA408632836SNTA1c.524A>G (p.Tyr175Cys)
n.757A>G
c.197A>G (p.Tyr66Cys)
20g.33417896T>GCA408632838SNTA1c.524A>C (p.Tyr175Ser)
n.757A>C
c.197A>C (p.Tyr66Ser)
20g.33417897A>CCA408632840SNTA1c.523T>G (p.Tyr175Asp)
n.756T>G
c.196T>G (p.Tyr66Asp)
20g.33417897A>GCA408632841SNTA1c.523T>C (p.Tyr175His)
n.756T>C
c.196T>C (p.Tyr66His)
gnomAD v4
20g.33417897A>TCA408632843SNTA1c.523T>A (p.Tyr175Asn)
n.756T>A
c.196T>A (p.Tyr66Asn)
20g.33417898C>ACA510251404SNTA1c.522G>T (p.Pro174=)
n.755G>T
c.195G>T (p.Pro65=)
gnomAD v4
20g.33417898C=CA2360744038SNTA1c.522G= (p.Pro174=)
n.755G=
c.195G= (p.Pro65=)
20g.33417898C>GCA510251402SNTA1c.522G>C (p.Pro174=)
n.755G>C
c.195G>C (p.Pro65=)
20g.33417898C>TCA9817198SNTA1c.522G>A (p.Pro174=)
n.755G>A
c.195G>A (p.Pro65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417899G>ACA9817199SNTA1c.521C>T (p.Pro174Leu)
n.754C>T
c.194C>T (p.Pro65Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417899G>CCA408632846SNTA1c.521C>G (p.Pro174Arg)
n.754C>G
c.194C>G (p.Pro65Arg)
20g.33417899G=CA2360744039SNTA1c.521C= (p.Pro174=)
n.754C=
c.194C= (p.Pro65=)
20g.33417899G>TCA408632847SNTA1c.521C>A (p.Pro174Gln)
n.754C>A
c.194C>A (p.Pro65Gln)
20g.33417900G>ACA408632852SNTA1c.520C>T (p.Pro174Ser)
n.753C>T
c.193C>T (p.Pro65Ser)
gnomAD v4
20g.33417900G>CCA408632850SNTA1c.520C>G (p.Pro174Ala)
n.753C>G
c.193C>G (p.Pro65Ala)
20g.33417900G>TCA408632848SNTA1c.520C>A (p.Pro174Thr)
n.753C>A
c.193C>A (p.Pro65Thr)
COSMIC
20g.33417901T>ACA510251409SNTA1c.519A>T (p.Ser173=)
n.752A>T
c.192A>T (p.Ser64=)
20g.33417901T>CCA510251411SNTA1c.519A>G (p.Ser173=)
n.752A>G
c.192A>G (p.Ser64=)
20g.33417901T>GCA510251412SNTA1c.519A>C (p.Ser173=)
n.752A>C
c.192A>C (p.Ser64=)
20g.33417902G>ACA408632855SNTA1c.518C>T (p.Ser173Leu)
n.751C>T
c.191C>T (p.Ser64Leu)
20g.33417902G>CCA408632854SNTA1c.518C>G (p.Ser173Ter)
n.751C>G
c.191C>G (p.Ser64Ter)
20g.33417902G>TCA408632857SNTA1c.518C>A (p.Ser173Ter)
n.751C>A
c.191C>A (p.Ser64Ter)
20g.33417903A>CCA408632858SNTA1c.517T>G (p.Ser173Ala)
n.750T>G
c.190T>G (p.Ser64Ala)
20g.33417903A>GCA408632860SNTA1c.517T>C (p.Ser173Pro)
n.750T>C
c.190T>C (p.Ser64Pro)
20g.33417903A>TCA408632861SNTA1c.517T>A (p.Ser173Thr)
n.750T>A
c.190T>A (p.Ser64Thr)
20g.33417903_33417904delinsAGCA2360744040SNTA1c.516_517delinsCT (p.Val172=)
n.749_750delinsCT
c.189_190delinsCT (p.Val63=)
20g.33417904delCA2360744041SNTA1c.516del (p.Ser173HisfsTer?)
n.749del
c.189del (p.Ser64HisfsTer?)
dbSNP
20g.33417904G>ACA510251413SNTA1c.516C>T (p.Val172=)
n.749C>T
c.189C>T (p.Val63=)
20g.33417904G>CCA510251415SNTA1c.516C>G (p.Val172=)
n.749C>G
c.189C>G (p.Val63=)
20g.33417904G>TCA510251417SNTA1c.516C>A (p.Val172=)
n.749C>A
c.189C>A (p.Val63=)
20g.33417905A>CCA408632863SNTA1c.515T>G (p.Val172Gly)
n.748T>G
c.188T>G (p.Val63Gly)
20g.33417905A>GCA408632865SNTA1c.515T>C (p.Val172Ala)
n.748T>C
c.188T>C (p.Val63Ala)
20g.33417905A>TCA408632867SNTA1c.515T>A (p.Val172Asp)
n.748T>A
c.188T>A (p.Val63Asp)
20g.33417906C>ACA9817201SNTA1c.514G>T (p.Val172Phe)
n.747G>T
c.187G>T (p.Val63Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33417906C=CA2360744042SNTA1c.514G= (p.Val172=)
n.747G=
c.187G= (p.Val63=)
20g.33417906C>GCA408632869SNTA1c.514G>C (p.Val172Leu)
n.747G>C
c.187G>C (p.Val63Leu)
20g.33417906C>TCA9817200SNTA1c.514G>A (p.Val172Ile)
n.747G>A
c.187G>A (p.Val63Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417907G>ACA9817202SNTA1c.513C>T (p.Asp171=)
n.746C>T
c.186C>T (p.Asp62=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33417907G>CCA408632872SNTA1c.513C>G (p.Asp171Glu)
n.746C>G
c.186C>G (p.Asp62Glu)
20g.33417907G=CA2360744043SNTA1c.513C= (p.Asp171=)
n.746C=
c.186C= (p.Asp62=)
20g.33417907G>TCA408632874SNTA1c.513C>A (p.Asp171Glu)
n.746C>A
c.186C>A (p.Asp62Glu)
20g.33417908T>ACA408632880SNTA1c.512A>T (p.Asp171Val)
n.745A>T
c.185A>T (p.Asp62Val)
20g.33417908T>CCA408632876SNTA1c.512A>G (p.Asp171Gly)
n.745A>G
c.185A>G (p.Asp62Gly)
20g.33417908T>GCA408632878SNTA1c.512A>C (p.Asp171Ala)
n.745A>C
c.185A>C (p.Asp62Ala)
20g.33417909C>ACA408632881SNTA1c.511G>T (p.Asp171Tyr)
n.744G>T
c.184G>T (p.Asp62Tyr)
20g.33417909C>GCA408632883SNTA1c.511G>C (p.Asp171His)
n.744G>C
c.184G>C (p.Asp62His)
20g.33417909C>TCA408632884SNTA1c.511G>A (p.Asp171Asn)
n.744G>A
c.184G>A (p.Asp62Asn)
gnomAD v4
20g.33417910C>ACA408632886SNTA1c.510G>T (p.Lys170Asn)
n.743G>T
c.183G>T (p.Lys61Asn)
20g.33417910C=CA2360744044SNTA1c.510G= (p.Lys170=)
n.743G=
c.183G= (p.Lys61=)
20g.33417910C>GCA408632888SNTA1c.510G>C (p.Lys170Asn)
n.743G>C
c.183G>C (p.Lys61Asn)
dbSNP gnomAD v3 gnomAD v4
20g.33417910C>TCA510251422SNTA1c.510G>A (p.Lys170=)
n.743G>A
c.183G>A (p.Lys61=)
20g.33417911T>ACA408632890SNTA1c.509A>T (p.Lys170Met)
n.742A>T
c.182A>T (p.Lys61Met)
20g.33417911T>CCA408632891SNTA1c.509A>G (p.Lys170Arg)
n.742A>G
c.182A>G (p.Lys61Arg)
20g.33417911T>GCA408632893SNTA1c.509A>C (p.Lys170Thr)
n.742A>C
c.182A>C (p.Lys61Thr)
20g.33417912T>ACA408632895SNTA1c.508A>T (p.Lys170Ter)
n.741A>T
c.181A>T (p.Lys61Ter)
20g.33417912T>CCA408632896SNTA1c.508A>G (p.Lys170Glu)
n.741A>G
c.181A>G (p.Lys61Glu)
20g.33417912T>GCA408632898SNTA1c.508A>C (p.Lys170Gln)
n.741A>C
c.181A>C (p.Lys61Gln)
20g.33417913C>ACA408632903SNTA1c.507G>T (p.Met169Ile)
n.740G>T
c.180G>T (p.Met60Ile)
20g.33417913C>GCA408632902SNTA1c.507G>C (p.Met169Ile)
n.740G>C
c.180G>C (p.Met60Ile)
20g.33417913C>TCA408632900SNTA1c.507G>A (p.Met169Ile)
n.740G>A
c.180G>A (p.Met60Ile)
20g.33417914A>CCA408632905SNTA1c.506T>G (p.Met169Arg)
n.739T>G
c.179T>G (p.Met60Arg)
ClinVar dbSNP
20g.33417914A>GCA408632907SNTA1c.506T>C (p.Met169Thr)
n.739T>C
c.179T>C (p.Met60Thr)
20g.33417914A>TCA408632908SNTA1c.506T>A (p.Met169Lys)
n.739T>A
c.179T>A (p.Met60Lys)
20g.33417915T>ACA408632910SNTA1c.505A>T (p.Met169Leu)
n.738A>T
c.178A>T (p.Met60Leu)
20g.33417915T>CCA408632911SNTA1c.505A>G (p.Met169Val)
n.738A>G
c.178A>G (p.Met60Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33417915T>GCA408632913SNTA1c.505A>C (p.Met169Leu)
n.738A>C
c.178A>C (p.Met60Leu)
20g.33417915T=CA2360744045SNTA1c.505A= (p.Met169=)
n.738A=
c.178A= (p.Met60=)
20g.33417916A>CCA408632915SNTA1c.504T>G (p.Tyr168Ter)
n.737T>G
c.177T>G (p.Tyr59Ter)
20g.33417916A>GCA510251426SNTA1c.504T>C (p.Tyr168=)
n.737T>C
c.177T>C (p.Tyr59=)
COSMIC
20g.33417916A>TCA408632916SNTA1c.504T>A (p.Tyr168Ter)
n.737T>A
c.177T>A (p.Tyr59Ter)

Number of alleles fetched