Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154571259C>A | CA342630021 | CHRNB2 | c.436C>A (p.Leu146Met) c.442C>A (p.Leu148Met) c.-9-66C>A (n.-9-66C>A) n.688C>A | |
1 | g.154571259C>G | CA342630022 | CHRNB2 | c.436C>G (p.Leu146Val) c.442C>G (p.Leu148Val) c.-9-66C>G (n.-9-66C>G) n.688C>G | |
1 | g.154571259C>T | CA420970435 | CHRNB2 | c.436C>T (p.Leu146=) c.442C>T (p.Leu148=) c.-9-66C>T (n.-9-66C>T) n.688C>T | |
1 | g.154571260T>A | CA342630024 | CHRNB2 | c.437T>A (p.Leu146Gln) c.443T>A (p.Leu148Gln) c.-9-65T>A (n.-9-65T>A) n.689T>A | |
1 | g.154571260T>C | CA342630025 | CHRNB2 | c.437T>C (p.Leu146Pro) c.443T>C (p.Leu148Pro) c.-9-65T>C (n.-9-65T>C) n.689T>C | |
1 | g.154571260T>G | CA342630023 | CHRNB2 | c.437T>G (p.Leu146Arg) c.443T>G (p.Leu148Arg) c.-9-65T>G (n.-9-65T>G) n.689T>G | |
1 | g.154571261G>A | CA1130730 | CHRNB2 | c.438G>A (p.Leu146=) c.444G>A (p.Leu148=) c.-9-64G>A (n.-9-64G>A) n.690G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571261G>C | CA420970440 | CHRNB2 | c.438G>C (p.Leu146=) c.444G>C (p.Leu148=) c.-9-64G>C (n.-9-64G>C) n.690G>C | |
1 | g.154571261G= | CA2480925200 | CHRNB2 | c.438G= (p.Leu146=) c.444G= (p.Leu148=) c.-9-64G= (n.-9-64G=) n.690G= | |
1 | g.154571261G>T | CA420970442 | CHRNB2 | c.438G>T (p.Leu146=) c.444G>T (p.Leu148=) c.-9-64G>T (n.-9-64G>T) n.690G>T | |
1 | g.154571262C>A | CA342630026 | CHRNB2 | c.439C>A (p.Pro147Thr) c.445C>A (p.Pro149Thr) c.-9-63C>A (n.-9-63C>A) n.691C>A | |
1 | g.154571262C>G | CA342630027 | CHRNB2 | c.439C>G (p.Pro147Ala) c.445C>G (p.Pro149Ala) c.-9-63C>G (n.-9-63C>G) n.691C>G | |
1 | g.154571262C>T | CA342630028 | CHRNB2 | c.439C>T (p.Pro147Ser) c.445C>T (p.Pro149Ser) c.-9-63C>T (n.-9-63C>T) n.691C>T | |
1 | g.154571263C>A | CA342630029 | CHRNB2 | c.440C>A (p.Pro147Gln) c.446C>A (p.Pro149Gln) c.-9-62C>A (n.-9-62C>A) n.692C>A | |
1 | g.154571263C= | CA1147135256 | CHRNB2 | c.440C= (p.Pro147=) c.446C= (p.Pro149=) c.-9-62C= (n.-9-62C=) n.692C= | |
1 | g.154571263C>G | CA342630030 | CHRNB2 | c.440C>G (p.Pro147Arg) c.446C>G (p.Pro149Arg) c.-9-62C>G (n.-9-62C>G) n.692C>G | |
1 | g.154571263C>T | CA30834116 | CHRNB2 | c.440C>T (p.Pro147Leu) c.446C>T (p.Pro149Leu) c.-9-62C>T (n.-9-62C>T) n.692C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571264G>A | CA420970450 | CHRNB2 | c.441G>A (p.Pro147=) c.447G>A (p.Pro149=) c.-9-61G>A (n.-9-61G>A) n.693G>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.154571264G>C | CA420970449 | CHRNB2 | c.441G>C (p.Pro147=) c.447G>C (p.Pro149=) c.-9-61G>C (n.-9-61G>C) n.693G>C | |
1 | g.154571264G= | CA2480925201 | CHRNB2 | c.441G= (p.Pro147=) c.447G= (p.Pro149=) c.-9-61G= (n.-9-61G=) n.693G= | |
1 | g.154571264G>T | CA1130731 | CHRNB2 | c.441G>T (p.Pro147=) c.447G>T (p.Pro149=) c.-9-61G>T (n.-9-61G>T) n.693G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571265C>A | CA342630031 | CHRNB2 | c.442C>A (p.Pro148Thr) c.448C>A (p.Pro150Thr) c.-9-60C>A (n.-9-60C>A) n.694C>A | |
1 | g.154571265C>G | CA342630032 | CHRNB2 | c.442C>G (p.Pro148Ala) c.448C>G (p.Pro150Ala) c.-9-60C>G (n.-9-60C>G) n.694C>G | |
1 | g.154571265C>T | CA342630033 | CHRNB2 | c.442C>T (p.Pro148Ser) c.448C>T (p.Pro150Ser) c.-9-60C>T (n.-9-60C>T) n.694C>T | gnomAD v4 |
1 | g.154571266C>A | CA342630035 | CHRNB2 | c.443C>A (p.Pro148His) c.449C>A (p.Pro150His) c.-9-59C>A (n.-9-59C>A) n.695C>A | |
1 | g.154571266C= | CA1148456174 | CHRNB2 | c.443C= (p.Pro148=) c.449C= (p.Pro150=) c.-9-59C= (n.-9-59C=) n.695C= | |
1 | g.154571266C>G | CA1130732 | CHRNB2 | c.443C>G (p.Pro148Arg) c.449C>G (p.Pro150Arg) c.-9-59C>G (n.-9-59C>G) n.695C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571266C>T | CA342630034 | CHRNB2 | c.443C>T (p.Pro148Leu) c.449C>T (p.Pro150Leu) c.-9-59C>T (n.-9-59C>T) n.695C>T | |
1 | g.154571267T>A | CA421230798 | CHRNB2 | c.444T>A (p.Pro148=) c.450T>A (p.Pro150=) c.-9-58T>A (n.-9-58T>A) n.696T>A | |
1 | g.154571267T>C | CA421230799 | CHRNB2 | c.444T>C (p.Pro148=) c.450T>C (p.Pro150=) c.-9-58T>C (n.-9-58T>C) n.696T>C | |
1 | g.154571267T>G | CA421230800 | CHRNB2 | c.444T>G (p.Pro148=) c.450T>G (p.Pro150=) c.-9-58T>G (n.-9-58T>G) n.696T>G | |
1 | g.154571268G>A | CA342630036 | CHRNB2 | c.445G>A (p.Ala149Thr) c.451G>A (p.Ala151Thr) c.-9-57G>A (n.-9-57G>A) n.697G>A | COSMIC |
1 | g.154571268G>C | CA342630037 | CHRNB2 | c.445G>C (p.Ala149Pro) c.451G>C (p.Ala151Pro) c.-9-57G>C (n.-9-57G>C) n.697G>C | |
1 | g.154571268G>T | CA342630038 | CHRNB2 | c.445G>T (p.Ala149Ser) c.451G>T (p.Ala151Ser) c.-9-57G>T (n.-9-57G>T) n.697G>T | |
1 | g.154571269C>A | CA342630039 | CHRNB2 | c.446C>A (p.Ala149Asp) c.452C>A (p.Ala151Asp) c.-9-56C>A (n.-9-56C>A) n.698C>A | |
1 | g.154571269C>G | CA342630040 | CHRNB2 | c.446C>G (p.Ala149Gly) c.452C>G (p.Ala151Gly) c.-9-56C>G (n.-9-56C>G) n.698C>G | |
1 | g.154571269C>T | CA342630041 | CHRNB2 | c.446C>T (p.Ala149Val) c.452C>T (p.Ala151Val) c.-9-56C>T (n.-9-56C>T) n.698C>T | |
1 | g.154571270C>A | CA421230802 | CHRNB2 | c.447C>A (p.Ala149=) c.453C>A (p.Ala151=) c.-9-55C>A (n.-9-55C>A) n.699C>A | |
1 | g.154571270C= | CA2480925202 | CHRNB2 | c.447C= (p.Ala149=) c.453C= (p.Ala151=) c.-9-55C= (n.-9-55C=) n.699C= | |
1 | g.154571270C>G | CA421230803 | CHRNB2 | c.447C>G (p.Ala149=) c.453C>G (p.Ala151=) c.-9-55C>G (n.-9-55C>G) n.699C>G | |
1 | g.154571270C>T | CA1130733 | CHRNB2 | c.447C>T (p.Ala149=) c.453C>T (p.Ala151=) c.-9-55C>T (n.-9-55C>T) n.699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571271A= | CA2480925203 | CHRNB2 | c.448A= (p.Ile150=) c.454A= (p.Ile152=) c.-9-54A= (n.-9-54A=) n.700A= | |
1 | g.154571271A>C | CA342630042 | CHRNB2 | c.448A>C (p.Ile150Leu) c.454A>C (p.Ile152Leu) c.-9-54A>C (n.-9-54A>C) n.700A>C | |
1 | g.154571271A>G | CA342630043 | CHRNB2 | c.448A>G (p.Ile150Val) c.454A>G (p.Ile152Val) c.-9-54A>G (n.-9-54A>G) n.700A>G | ClinVar dbSNP |
1 | g.154571271A>T | CA342630044 | CHRNB2 | c.448A>T (p.Ile150Phe) c.454A>T (p.Ile152Phe) c.-9-54A>T (n.-9-54A>T) n.700A>T | |
1 | g.154571272T>A | CA342630045 | CHRNB2 | c.449T>A (p.Ile150Asn) c.455T>A (p.Ile152Asn) c.-9-53T>A (n.-9-53T>A) n.701T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571272T>C | CA342630046 | CHRNB2 | c.449T>C (p.Ile150Thr) c.455T>C (p.Ile152Thr) c.-9-53T>C (n.-9-53T>C) n.701T>C | |
1 | g.154571272T>G | CA342630047 | CHRNB2 | c.449T>G (p.Ile150Ser) c.455T>G (p.Ile152Ser) c.-9-53T>G (n.-9-53T>G) n.701T>G | |
1 | g.154571272T= | CA2480925204 | CHRNB2 | c.449T= (p.Ile150=) c.455T= (p.Ile152=) c.-9-53T= (n.-9-53T=) n.701T= | |
1 | g.154571273C>A | CA421230812 | CHRNB2 | c.450C>A (p.Ile150=) c.456C>A (p.Ile152=) c.-9-52C>A (n.-9-52C>A) n.702C>A | |
1 | g.154571273C>G | CA342630048 | CHRNB2 | c.450C>G (p.Ile150Met) c.456C>G (p.Ile152Met) c.-9-52C>G (n.-9-52C>G) n.702C>G | |
1 | g.154571273C>T | CA421230813 | CHRNB2 | c.450C>T (p.Ile150=) c.456C>T (p.Ile152=) c.-9-52C>T (n.-9-52C>T) n.702C>T | |
1 | g.154571274T>A | CA342630051 | CHRNB2 | c.451T>A (p.Tyr151Asn) c.457T>A (p.Tyr153Asn) c.-9-51T>A (n.-9-51T>A) n.703T>A | |
1 | g.154571274T>C | CA342630049 | CHRNB2 | c.451T>C (p.Tyr151His) c.457T>C (p.Tyr153His) c.-9-51T>C (n.-9-51T>C) n.703T>C | |
1 | g.154571274T>G | CA342630050 | CHRNB2 | c.451T>G (p.Tyr151Asp) c.457T>G (p.Tyr153Asp) c.-9-51T>G (n.-9-51T>G) n.703T>G | |
1 | g.154571275A= | CA2480925205 | CHRNB2 | c.452A= (p.Tyr151=) c.458A= (p.Tyr153=) c.-9-50A= (n.-9-50A=) n.704A= | |
1 | g.154571275A>C | CA342630052 | CHRNB2 | c.452A>C (p.Tyr151Ser) c.458A>C (p.Tyr153Ser) c.-9-50A>C (n.-9-50A>C) n.704A>C | |
1 | g.154571275A>G | CA342630053 | CHRNB2 | c.452A>G (p.Tyr151Cys) c.458A>G (p.Tyr153Cys) c.-9-50A>G (n.-9-50A>G) n.704A>G | dbSNP |
1 | g.154571275A>T | CA342630054 | CHRNB2 | c.452A>T (p.Tyr151Phe) c.458A>T (p.Tyr153Phe) c.-9-50A>T (n.-9-50A>T) n.704A>T | |
1 | g.154571276C>A | CA342630055 | CHRNB2 | c.453C>A (p.Tyr151Ter) c.459C>A (p.Tyr153Ter) c.-9-49C>A (n.-9-49C>A) n.705C>A | |
1 | g.154571276C= | CA2480925206 | CHRNB2 | c.453C= (p.Tyr151=) c.459C= (p.Tyr153=) c.-9-49C= (n.-9-49C=) n.705C= | |
1 | g.154571276C>G | CA342630056 | CHRNB2 | c.453C>G (p.Tyr151Ter) c.459C>G (p.Tyr153Ter) c.-9-49C>G (n.-9-49C>G) n.705C>G | |
1 | g.154571276C>T | CA1130734 | CHRNB2 | c.453C>T (p.Tyr151=) c.459C>T (p.Tyr153=) c.-9-49C>T (n.-9-49C>T) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571277A>C | CA342630057 | CHRNB2 | c.454A>C (p.Lys152Gln) c.460A>C (p.Lys154Gln) c.-9-48A>C (n.-9-48A>C) n.706A>C | |
1 | g.154571277A>G | CA342630059 | CHRNB2 | c.454A>G (p.Lys152Glu) c.460A>G (p.Lys154Glu) c.-9-48A>G (n.-9-48A>G) n.706A>G | |
1 | g.154571277A>T | CA342630058 | CHRNB2 | c.454A>T (p.Lys152Ter) c.460A>T (p.Lys154Ter) c.-9-48A>T (n.-9-48A>T) n.706A>T | |
1 | g.154571278A= | CA2480925207 | CHRNB2 | c.455A= (p.Lys152=) c.461A= (p.Lys154=) c.-9-47A= (n.-9-47A=) n.707A= | |
1 | g.154571278A>C | CA342630060 | CHRNB2 | c.455A>C (p.Lys152Thr) c.461A>C (p.Lys154Thr) c.-9-47A>C (n.-9-47A>C) n.707A>C | |
1 | g.154571278A>G | CA342630061 | CHRNB2 | c.455A>G (p.Lys152Arg) c.461A>G (p.Lys154Arg) c.-9-47A>G (n.-9-47A>G) n.707A>G | dbSNP gnomAD v4 |
1 | g.154571278A>T | CA342630062 | CHRNB2 | c.455A>T (p.Lys152Met) c.461A>T (p.Lys154Met) c.-9-47A>T (n.-9-47A>T) n.707A>T | |
1 | g.154571279G>A | CA421230815 | CHRNB2 | c.456G>A (p.Lys152=) c.462G>A (p.Lys154=) c.-9-46G>A (n.-9-46G>A) n.708G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571279G>C | CA342630063 | CHRNB2 | c.456G>C (p.Lys152Asn) c.462G>C (p.Lys154Asn) c.-9-46G>C (n.-9-46G>C) n.708G>C | |
1 | g.154571279G>T | CA342630064 | CHRNB2 | c.456G>T (p.Lys152Asn) c.462G>T (p.Lys154Asn) c.-9-46G>T (n.-9-46G>T) n.708G>T | |
1 | g.154571280A>C | CA342630065 | CHRNB2 | c.457A>C (p.Ser153Arg) c.463A>C (p.Ser155Arg) c.-9-45A>C (n.-9-45A>C) n.709A>C | |
1 | g.154571280A>G | CA342630067 | CHRNB2 | c.457A>G (p.Ser153Gly) c.463A>G (p.Ser155Gly) c.-9-45A>G (n.-9-45A>G) n.709A>G | |
1 | g.154571280A>T | CA342630066 | CHRNB2 | c.457A>T (p.Ser153Cys) c.463A>T (p.Ser155Cys) c.-9-45A>T (n.-9-45A>T) n.709A>T | |
1 | g.154571281G>A | CA342630068 | CHRNB2 | c.458G>A (p.Ser153Asn) c.464G>A (p.Ser155Asn) c.-9-44G>A (n.-9-44G>A) n.710G>A | |
1 | g.154571281G>C | CA342630069 | CHRNB2 | c.458G>C (p.Ser153Thr) c.464G>C (p.Ser155Thr) c.-9-44G>C (n.-9-44G>C) n.710G>C | |
1 | g.154571281G>T | CA342630070 | CHRNB2 | c.458G>T (p.Ser153Ile) c.464G>T (p.Ser155Ile) c.-9-44G>T (n.-9-44G>T) n.710G>T | |
1 | g.154571282C>A | CA342630071 | CHRNB2 | c.459C>A (p.Ser153Arg) c.465C>A (p.Ser155Arg) c.-9-43C>A (n.-9-43C>A) n.711C>A | |
1 | g.154571282C= | CA1145092484 | CHRNB2 | c.459C= (p.Ser153=) c.465C= (p.Ser155=) c.-9-43C= (n.-9-43C=) n.711C= | |
1 | g.154571282C>G | CA1130735 | CHRNB2 | c.459C>G (p.Ser153Arg) c.465C>G (p.Ser155Arg) c.-9-43C>G (n.-9-43C>G) n.711C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571282C>T | CA30834133 | CHRNB2 | c.459C>T (p.Ser153=) c.465C>T (p.Ser155=) c.-9-43C>T (n.-9-43C>T) n.711C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571283G>A | CA1130736 | CHRNB2 | c.460G>A (p.Ala154Thr) c.466G>A (p.Ala156Thr) c.-9-42G>A (n.-9-42G>A) n.712G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571283G>C | CA342630072 | CHRNB2 | c.460G>C (p.Ala154Pro) c.466G>C (p.Ala156Pro) c.-9-42G>C (n.-9-42G>C) n.712G>C | |
1 | g.154571283G= | CA2480925208 | CHRNB2 | c.460G= (p.Ala154=) c.466G= (p.Ala156=) c.-9-42G= (n.-9-42G=) n.712G= | |
1 | g.154571283G>T | CA342630073 | CHRNB2 | c.460G>T (p.Ala154Ser) c.466G>T (p.Ala156Ser) c.-9-42G>T (n.-9-42G>T) n.712G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571284C>A | CA342630074 | CHRNB2 | c.461C>A (p.Ala154Glu) c.467C>A (p.Ala156Glu) c.-9-41C>A (n.-9-41C>A) n.713C>A | |
1 | g.154571284C>G | CA342630075 | CHRNB2 | c.461C>G (p.Ala154Gly) c.467C>G (p.Ala156Gly) c.-9-41C>G (n.-9-41C>G) n.713C>G | |
1 | g.154571284C>T | CA342630076 | CHRNB2 | c.461C>T (p.Ala154Val) c.467C>T (p.Ala156Val) c.-9-41C>T (n.-9-41C>T) n.713C>T | |
1 | g.154571285A= | CA2480925209 | CHRNB2 | c.462A= (p.Ala154=) c.468A= (p.Ala156=) c.-9-40A= (n.-9-40A=) n.714A= | |
1 | g.154571285A>C | CA421230829 | CHRNB2 | c.462A>C (p.Ala154=) c.468A>C (p.Ala156=) c.-9-40A>C (n.-9-40A>C) n.714A>C | |
1 | g.154571285A>G | CA421230830 | CHRNB2 | c.462A>G (p.Ala154=) c.468A>G (p.Ala156=) c.-9-40A>G (n.-9-40A>G) n.714A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571285A>T | CA421230832 | CHRNB2 | c.462A>T (p.Ala154=) c.468A>T (p.Ala156=) c.-9-40A>T (n.-9-40A>T) n.714A>T | |
1 | g.154571286T>A | CA342630077 | CHRNB2 | c.463T>A (p.Cys155Ser) c.469T>A (p.Cys157Ser) c.-9-39T>A (n.-9-39T>A) n.715T>A | gnomAD v4 |
1 | g.154571286T>C | CA342630079 | CHRNB2 | c.463T>C (p.Cys155Arg) c.469T>C (p.Cys157Arg) c.-9-39T>C (n.-9-39T>C) n.715T>C | COSMIC |
1 | g.154571286T>G | CA342630078 | CHRNB2 | c.463T>G (p.Cys155Gly) c.469T>G (p.Cys157Gly) c.-9-39T>G (n.-9-39T>G) n.715T>G | |
1 | g.154571287G>A | CA342630080 | CHRNB2 | c.464G>A (p.Cys155Tyr) c.470G>A (p.Cys157Tyr) c.-9-38G>A (n.-9-38G>A) n.716G>A | gnomAD v4 |
1 | g.154571287G>C | CA342630081 | CHRNB2 | c.464G>C (p.Cys155Ser) c.470G>C (p.Cys157Ser) c.-9-38G>C (n.-9-38G>C) n.716G>C | |
1 | g.154571287G>T | CA342630082 | CHRNB2 | c.464G>T (p.Cys155Phe) c.470G>T (p.Cys157Phe) c.-9-38G>T (n.-9-38G>T) n.716G>T | |
1 | g.154571288C>A | CA342630083 | CHRNB2 | c.465C>A (p.Cys155Ter) c.471C>A (p.Cys157Ter) c.-9-37C>A (n.-9-37C>A) n.717C>A | |
1 | g.154571288C>G | CA342630084 | CHRNB2 | c.465C>G (p.Cys155Trp) c.471C>G (p.Cys157Trp) c.-9-37C>G (n.-9-37C>G) n.717C>G | |
1 | g.154571288C>T | CA421230835 | CHRNB2 | c.465C>T (p.Cys155=) c.471C>T (p.Cys157=) c.-9-37C>T (n.-9-37C>T) n.717C>T | |
1 | g.154571289A>C | CA342630085 | CHRNB2 | c.466A>C (p.Lys156Gln) c.472A>C (p.Lys158Gln) c.-9-36A>C (n.-9-36A>C) n.718A>C | |
1 | g.154571289A>G | CA342630086 | CHRNB2 | c.466A>G (p.Lys156Glu) c.472A>G (p.Lys158Glu) c.-9-36A>G (n.-9-36A>G) n.718A>G | ClinVar |
1 | g.154571289A>T | CA342630087 | CHRNB2 | c.466A>T (p.Lys156Ter) c.472A>T (p.Lys158Ter) c.-9-36A>T (n.-9-36A>T) n.718A>T | |
1 | g.154571290A>C | CA342630088 | CHRNB2 | c.467A>C (p.Lys156Thr) c.473A>C (p.Lys158Thr) c.-9-35A>C (n.-9-35A>C) n.719A>C | |
1 | g.154571290A>G | CA342630089 | CHRNB2 | c.467A>G (p.Lys156Arg) c.473A>G (p.Lys158Arg) c.-9-35A>G (n.-9-35A>G) n.719A>G | |
1 | g.154571290A>T | CA342630090 | CHRNB2 | c.467A>T (p.Lys156Met) c.473A>T (p.Lys158Met) c.-9-35A>T (n.-9-35A>T) n.719A>T | |
1 | g.154571291G>A | CA421230837 | CHRNB2 | c.468G>A (p.Lys156=) c.474G>A (p.Lys158=) c.-9-34G>A (n.-9-34G>A) n.720G>A | |
1 | g.154571291G>C | CA342630091 | CHRNB2 | c.468G>C (p.Lys156Asn) c.474G>C (p.Lys158Asn) c.-9-34G>C (n.-9-34G>C) n.720G>C | gnomAD v4 COSMIC |
1 | g.154571291G>T | CA342630092 | CHRNB2 | c.468G>T (p.Lys156Asn) c.474G>T (p.Lys158Asn) c.-9-34G>T (n.-9-34G>T) n.720G>T | |
1 | g.154571292A>C | CA342630095 | CHRNB2 | c.469A>C (p.Ile157Leu) c.475A>C (p.Ile159Leu) c.-9-33A>C (n.-9-33A>C) n.721A>C | |
1 | g.154571292A>G | CA342630093 | CHRNB2 | c.469A>G (p.Ile157Val) c.475A>G (p.Ile159Val) c.-9-33A>G (n.-9-33A>G) n.721A>G | |
1 | g.154571292A>T | CA342630094 | CHRNB2 | c.469A>T (p.Ile157Phe) c.475A>T (p.Ile159Phe) c.-9-33A>T (n.-9-33A>T) n.721A>T | gnomAD v4 |
1 | g.154571293T>A | CA342630096 | CHRNB2 | c.470T>A (p.Ile157Asn) c.476T>A (p.Ile159Asn) c.-9-32T>A (n.-9-32T>A) n.722T>A | ClinVar |
1 | g.154571293T>C | CA1130737 | CHRNB2 | c.470T>C (p.Ile157Thr) c.476T>C (p.Ile159Thr) c.-9-32T>C (n.-9-32T>C) n.722T>C | dbSNP ExAC gnomAD v4 |
1 | g.154571293T>G | CA342630097 | CHRNB2 | c.470T>G (p.Ile157Ser) c.476T>G (p.Ile159Ser) c.-9-32T>G (n.-9-32T>G) n.722T>G | |
1 | g.154571293T= | CA2480925210 | CHRNB2 | c.470T= (p.Ile157=) c.476T= (p.Ile159=) c.-9-32T= (n.-9-32T=) n.722T= | |
1 | g.154571294T>A | CA421230841 | CHRNB2 | c.471T>A (p.Ile157=) c.477T>A (p.Ile159=) c.-9-31T>A (n.-9-31T>A) n.723T>A | |
1 | g.154571294T>C | CA421230844 | CHRNB2 | c.471T>C (p.Ile157=) c.477T>C (p.Ile159=) c.-9-31T>C (n.-9-31T>C) n.723T>C | |
1 | g.154571294T>G | CA342630098 | CHRNB2 | c.471T>G (p.Ile157Met) c.477T>G (p.Ile159Met) c.-9-31T>G (n.-9-31T>G) n.723T>G | |
1 | g.154571295G>A | CA342630099 | CHRNB2 | c.472G>A (p.Glu158Lys) c.478G>A (p.Glu160Lys) c.-9-30G>A (n.-9-30G>A) n.724G>A | |
1 | g.154571295G>C | CA342630100 | CHRNB2 | c.472G>C (p.Glu158Gln) c.478G>C (p.Glu160Gln) c.-9-30G>C (n.-9-30G>C) n.724G>C | |
1 | g.154571295G>T | CA342630101 | CHRNB2 | c.472G>T (p.Glu158Ter) c.478G>T (p.Glu160Ter) c.-9-30G>T (n.-9-30G>T) n.724G>T | |
1 | g.154571296A>C | CA342630102 | CHRNB2 | c.473A>C (p.Glu158Ala) c.479A>C (p.Glu160Ala) c.-9-29A>C (n.-9-29A>C) n.725A>C | |
1 | g.154571296A>G | CA342630103 | CHRNB2 | c.473A>G (p.Glu158Gly) c.479A>G (p.Glu160Gly) c.-9-29A>G (n.-9-29A>G) n.725A>G | |
1 | g.154571296A>T | CA342630104 | CHRNB2 | c.473A>T (p.Glu158Val) c.479A>T (p.Glu160Val) c.-9-29A>T (n.-9-29A>T) n.725A>T | |
1 | g.154571297A>C | CA342630105 | CHRNB2 | c.474A>C (p.Glu158Asp) c.480A>C (p.Glu160Asp) c.-9-28A>C (n.-9-28A>C) n.726A>C | |
1 | g.154571297A>G | CA421230845 | CHRNB2 | c.474A>G (p.Glu158=) c.480A>G (p.Glu160=) c.-9-28A>G (n.-9-28A>G) n.726A>G | |
1 | g.154571297A>T | CA342630106 | CHRNB2 | c.474A>T (p.Glu158Asp) c.480A>T (p.Glu160Asp) c.-9-28A>T (n.-9-28A>T) n.726A>T | |
1 | g.154571298G>A | CA342630107 | CHRNB2 | c.475G>A (p.Val159Ile) c.481G>A (p.Val161Ile) c.-9-27G>A (n.-9-27G>A) n.727G>A | |
1 | g.154571298G>C | CA342630109 | CHRNB2 | c.475G>C (p.Val159Leu) c.481G>C (p.Val161Leu) c.-9-27G>C (n.-9-27G>C) n.727G>C | |
1 | g.154571298G>T | CA342630108 | CHRNB2 | c.475G>T (p.Val159Leu) c.481G>T (p.Val161Leu) c.-9-27G>T (n.-9-27G>T) n.727G>T | |
1 | g.154571299T>A | CA342630110 | CHRNB2 | c.476T>A (p.Val159Glu) c.482T>A (p.Val161Glu) c.-9-26T>A (n.-9-26T>A) n.728T>A | |
1 | g.154571299T>C | CA342630112 | CHRNB2 | c.476T>C (p.Val159Ala) c.482T>C (p.Val161Ala) c.-9-26T>C (n.-9-26T>C) n.728T>C | |
1 | g.154571299T>G | CA342630111 | CHRNB2 | c.476T>G (p.Val159Gly) c.482T>G (p.Val161Gly) c.-9-26T>G (n.-9-26T>G) n.728T>G | COSMIC |
1 | g.154571300A>C | CA421230850 | CHRNB2 | c.477A>C (p.Val159=) c.483A>C (p.Val161=) c.-9-25A>C (n.-9-25A>C) n.729A>C | |
1 | g.154571300A>G | CA421230849 | CHRNB2 | c.477A>G (p.Val159=) c.483A>G (p.Val161=) c.-9-25A>G (n.-9-25A>G) n.729A>G | |
1 | g.154571300A>T | CA421230848 | CHRNB2 | c.477A>T (p.Val159=) c.483A>T (p.Val161=) c.-9-25A>T (n.-9-25A>T) n.729A>T | |
1 | g.154571301A>C | CA342630113 | CHRNB2 | c.478A>C (p.Lys160Gln) c.484A>C (p.Lys162Gln) c.-9-24A>C (n.-9-24A>C) n.730A>C | |
1 | g.154571301A>G | CA342630114 | CHRNB2 | c.478A>G (p.Lys160Glu) c.484A>G (p.Lys162Glu) c.-9-24A>G (n.-9-24A>G) n.730A>G | |
1 | g.154571301A>T | CA342630115 | CHRNB2 | c.478A>T (p.Lys160Ter) c.484A>T (p.Lys162Ter) c.-9-24A>T (n.-9-24A>T) n.730A>T | |
1 | g.154571302A>C | CA342630116 | CHRNB2 | c.479A>C (p.Lys160Thr) c.485A>C (p.Lys162Thr) c.-9-23A>C (n.-9-23A>C) n.731A>C | |
1 | g.154571302A>G | CA342630117 | CHRNB2 | c.479A>G (p.Lys160Arg) c.485A>G (p.Lys162Arg) c.-9-23A>G (n.-9-23A>G) n.731A>G | |
1 | g.154571302A>T | CA342630118 | CHRNB2 | c.479A>T (p.Lys160Met) c.485A>T (p.Lys162Met) c.-9-23A>T (n.-9-23A>T) n.731A>T | |
1 | g.154571303G>A | CA421230853 | CHRNB2 | c.480G>A (p.Lys160=) c.486G>A (p.Lys162=) c.-9-22G>A (n.-9-22G>A) n.732G>A | |
1 | g.154571303G>C | CA342630119 | CHRNB2 | c.480G>C (p.Lys160Asn) c.486G>C (p.Lys162Asn) c.-9-22G>C (n.-9-22G>C) n.732G>C | |
1 | g.154571303G>T | CA342630120 | CHRNB2 | c.480G>T (p.Lys160Asn) c.486G>T (p.Lys162Asn) c.-9-22G>T (n.-9-22G>T) n.732G>T | |
1 | g.154571304C>A | CA342630121 | CHRNB2 | c.481C>A (p.His161Asn) c.487C>A (p.His163Asn) c.-9-21C>A (n.-9-21C>A) n.733C>A | |
1 | g.154571304C= | CA2480925211 | CHRNB2 | c.481C= (p.His161=) c.487C= (p.His163=) c.-9-21C= (n.-9-21C=) n.733C= | |
1 | g.154571304C>G | CA342630122 | CHRNB2 | c.481C>G (p.His161Asp) c.487C>G (p.His163Asp) c.-9-21C>G (n.-9-21C>G) n.733C>G | |
1 | g.154571304C>T | CA342630123 | CHRNB2 | c.481C>T (p.His161Tyr) c.487C>T (p.His163Tyr) c.-9-21C>T (n.-9-21C>T) n.733C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571305A>C | CA342630126 | CHRNB2 | c.482A>C (p.His161Pro) c.488A>C (p.His163Pro) c.-9-20A>C (n.-9-20A>C) n.734A>C | |
1 | g.154571305A>G | CA342630125 | CHRNB2 | c.482A>G (p.His161Arg) c.488A>G (p.His163Arg) c.-9-20A>G (n.-9-20A>G) n.734A>G | |
1 | g.154571305A>T | CA342630124 | CHRNB2 | c.482A>T (p.His161Leu) c.488A>T (p.His163Leu) c.-9-20A>T (n.-9-20A>T) n.734A>T | |
1 | g.154571306C>A | CA342630127 | CHRNB2 | c.483C>A (p.His161Gln) c.489C>A (p.His163Gln) c.-9-19C>A (n.-9-19C>A) n.735C>A | |
1 | g.154571306C= | CA1143182610 | CHRNB2 | c.483C= (p.His161=) c.489C= (p.His163=) c.-9-19C= (n.-9-19C=) n.735C= | |
1 | g.154571306C>G | CA342630128 | CHRNB2 | c.483C>G (p.His161Gln) c.489C>G (p.His163Gln) c.-9-19C>G (n.-9-19C>G) n.735C>G | |
1 | g.154571306C>T | CA1130738 | CHRNB2 | c.483C>T (p.His161=) c.489C>T (p.His163=) c.-9-19C>T (n.-9-19C>T) n.735C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571307T>A | CA342630129 | CHRNB2 | c.484T>A (p.Phe162Ile) c.490T>A (p.Phe164Ile) c.-9-18T>A (n.-9-18T>A) n.736T>A | |
1 | g.154571307T>C | CA342630130 | CHRNB2 | c.484T>C (p.Phe162Leu) c.490T>C (p.Phe164Leu) c.-9-18T>C (n.-9-18T>C) n.736T>C | gnomAD v4 |
1 | g.154571307T>G | CA342630131 | CHRNB2 | c.484T>G (p.Phe162Val) c.490T>G (p.Phe164Val) c.-9-18T>G (n.-9-18T>G) n.736T>G | |
1 | g.154571308T>A | CA342630132 | CHRNB2 | c.485T>A (p.Phe162Tyr) c.491T>A (p.Phe164Tyr) c.-9-17T>A (n.-9-17T>A) n.737T>A | |
1 | g.154571308T>C | CA342630133 | CHRNB2 | c.485T>C (p.Phe162Ser) c.491T>C (p.Phe164Ser) c.-9-17T>C (n.-9-17T>C) n.737T>C | ClinVar dbSNP gnomAD v4 |
1 | g.154571308T>G | CA342630134 | CHRNB2 | c.485T>G (p.Phe162Cys) c.491T>G (p.Phe164Cys) c.-9-17T>G (n.-9-17T>G) n.737T>G | |
1 | g.154571308T= | CA2480925212 | CHRNB2 | c.485T= (p.Phe162=) c.491T= (p.Phe164=) c.-9-17T= (n.-9-17T=) n.737T= | |
1 | g.154571309C>A | CA342630135 | CHRNB2 | c.486C>A (p.Phe162Leu) c.492C>A (p.Phe164Leu) c.-9-16C>A (n.-9-16C>A) n.738C>A | |
1 | g.154571309C= | CA2480925213 | CHRNB2 | c.486C= (p.Phe162=) c.492C= (p.Phe164=) c.-9-16C= (n.-9-16C=) n.738C= | |
1 | g.154571309C>G | CA342630136 | CHRNB2 | c.486C>G (p.Phe162Leu) c.492C>G (p.Phe164Leu) c.-9-16C>G (n.-9-16C>G) n.738C>G | gnomAD v4 |
1 | g.154571309C>T | CA421230859 | CHRNB2 | c.486C>T (p.Phe162=) c.492C>T (p.Phe164=) c.-9-16C>T (n.-9-16C>T) n.738C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571310C>A | CA342630139 | CHRNB2 | c.487C>A (p.Pro163Thr) c.493C>A (p.Pro165Thr) c.-9-15C>A (n.-9-15C>A) n.739C>A | |
1 | g.154571310C= | CA2480925214 | CHRNB2 | c.487C= (p.Pro163=) c.493C= (p.Pro165=) c.-9-15C= (n.-9-15C=) n.739C= | |
1 | g.154571310C>G | CA342630138 | CHRNB2 | c.487C>G (p.Pro163Ala) c.493C>G (p.Pro165Ala) c.-9-15C>G (n.-9-15C>G) n.739C>G | |
1 | g.154571310C>T | CA342630137 | CHRNB2 | c.487C>T (p.Pro163Ser) c.493C>T (p.Pro165Ser) c.-9-15C>T (n.-9-15C>T) n.739C>T | dbSNP |
1 | g.154571311C>A | CA342630140 | CHRNB2 | c.488C>A (p.Pro163Gln) c.494C>A (p.Pro165Gln) c.-9-14C>A (n.-9-14C>A) n.740C>A | COSMIC |
1 | g.154571311C= | CA2480925215 | CHRNB2 | c.488C= (p.Pro163=) c.494C= (p.Pro165=) c.-9-14C= (n.-9-14C=) n.740C= | |
1 | g.154571311C>G | CA342630141 | CHRNB2 | c.488C>G (p.Pro163Arg) c.494C>G (p.Pro165Arg) c.-9-14C>G (n.-9-14C>G) n.740C>G | |
1 | g.154571311C>T | CA342630142 | CHRNB2 | c.488C>T (p.Pro163Leu) c.494C>T (p.Pro165Leu) c.-9-14C>T (n.-9-14C>T) n.740C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571312A>C | CA421230865 | CHRNB2 | c.489A>C (p.Pro163=) c.495A>C (p.Pro165=) c.-9-13A>C (n.-9-13A>C) n.741A>C | |
1 | g.154571312A>G | CA421230868 | CHRNB2 | c.489A>G (p.Pro163=) c.495A>G (p.Pro165=) c.-9-13A>G (n.-9-13A>G) n.741A>G | |
1 | g.154571312A>T | CA421230867 | CHRNB2 | c.489A>T (p.Pro163=) c.495A>T (p.Pro165=) c.-9-13A>T (n.-9-13A>T) n.741A>T | |
1 | g.154571313T>A | CA342630143 | CHRNB2 | c.490T>A (p.Phe164Ile) c.496T>A (p.Phe166Ile) c.-9-12T>A (n.-9-12T>A) n.742T>A | |
1 | g.154571313T>C | CA342630144 | CHRNB2 | c.490T>C (p.Phe164Leu) c.496T>C (p.Phe166Leu) c.-9-12T>C (n.-9-12T>C) n.742T>C | |
1 | g.154571313T>G | CA342630145 | CHRNB2 | c.490T>G (p.Phe164Val) c.496T>G (p.Phe166Val) c.-9-12T>G (n.-9-12T>G) n.742T>G | |
1 | g.154571314T>A | CA342630148 | CHRNB2 | c.491T>A (p.Phe164Tyr) c.497T>A (p.Phe166Tyr) c.-9-11T>A (n.-9-11T>A) n.743T>A | |
1 | g.154571314T>C | CA342630146 | CHRNB2 | c.491T>C (p.Phe164Ser) c.497T>C (p.Phe166Ser) c.-9-11T>C (n.-9-11T>C) n.743T>C | |
1 | g.154571314T>G | CA342630147 | CHRNB2 | c.491T>G (p.Phe164Cys) c.497T>G (p.Phe166Cys) c.-9-11T>G (n.-9-11T>G) n.743T>G | |
1 | g.154571315T>A | CA342630149 | CHRNB2 | c.492T>A (p.Phe164Leu) c.498T>A (p.Phe166Leu) c.-9-10T>A (n.-9-10T>A) n.744T>A | |
1 | g.154571315T>C | CA421230872 | CHRNB2 | c.492T>C (p.Phe164=) c.498T>C (p.Phe166=) c.-9-10T>C (n.-9-10T>C) n.744T>C | |
1 | g.154571315T>G | CA342630150 | CHRNB2 | c.492T>G (p.Phe164Leu) c.498T>G (p.Phe166Leu) c.-9-10T>G (n.-9-10T>G) n.744T>G | |
1 | g.154571316G>A | CA342630151 | CHRNB2 | c.493G>A (p.Asp165Asn) c.499G>A (p.Asp167Asn) c.-9-9G>A (n.-9-9G>A) n.745G>A | |
1 | g.154571316G>C | CA342630152 | CHRNB2 | c.493G>C (p.Asp165His) c.499G>C (p.Asp167His) c.-9-9G>C (n.-9-9G>C) n.745G>C | dbSNP |
1 | g.154571316G= | CA2480925216 | CHRNB2 | c.493G= (p.Asp165=) c.499G= (p.Asp167=) c.-9-9G= (n.-9-9G=) n.745G= | |
1 | g.154571316G>T | CA342630153 | CHRNB2 | c.493G>T (p.Asp165Tyr) c.499G>T (p.Asp167Tyr) c.-9-9G>T (n.-9-9G>T) n.745G>T | gnomAD v4 |
1 | g.154571317A>C | CA342630154 | CHRNB2 | c.494A>C (p.Asp165Ala) c.500A>C (p.Asp167Ala) c.-9-8A>C (n.-9-8A>C) n.746A>C | |
1 | g.154571317A>G | CA342630156 | CHRNB2 | c.494A>G (p.Asp165Gly) c.500A>G (p.Asp167Gly) c.-9-8A>G (n.-9-8A>G) n.746A>G | |
1 | g.154571317A>T | CA342630155 | CHRNB2 | c.494A>T (p.Asp165Val) c.500A>T (p.Asp167Val) c.-9-8A>T (n.-9-8A>T) n.746A>T | |
1 | g.154571318C>A | CA342630157 | CHRNB2 | c.495C>A (p.Asp165Glu) c.501C>A (p.Asp167Glu) c.-9-7C>A (n.-9-7C>A) n.747C>A | |
1 | g.154571318C>G | CA342630158 | CHRNB2 | c.495C>G (p.Asp165Glu) c.501C>G (p.Asp167Glu) c.-9-7C>G (n.-9-7C>G) n.747C>G | |
1 | g.154571318C>T | CA421230877 | CHRNB2 | c.495C>T (p.Asp165=) c.501C>T (p.Asp167=) c.-9-7C>T (n.-9-7C>T) n.747C>T | |
1 | g.154571319C>A | CA342630159 | CHRNB2 | c.496C>A (p.Gln166Lys) c.502C>A (p.Gln168Lys) c.-9-6C>A (n.-9-6C>A) n.748C>A | |
1 | g.154571319C>G | CA342630160 | CHRNB2 | c.496C>G (p.Gln166Glu) c.502C>G (p.Gln168Glu) c.-9-6C>G (n.-9-6C>G) n.748C>G | gnomAD v4 |
1 | g.154571319C>T | CA342630161 | CHRNB2 | c.496C>T (p.Gln166Ter) c.502C>T (p.Gln168Ter) c.-9-6C>T (n.-9-6C>T) n.748C>T | |
1 | g.154571320A= | CA2480925217 | CHRNB2 | c.497A= (p.Gln166=) c.503A= (p.Gln168=) c.-9-5A= (n.-9-5A=) n.749A= | |
1 | g.154571320A>C | CA342630162 | CHRNB2 | c.497A>C (p.Gln166Pro) c.503A>C (p.Gln168Pro) c.-9-5A>C (n.-9-5A>C) n.749A>C | |
1 | g.154571320A>G | CA342630163 | CHRNB2 | c.497A>G (p.Gln166Arg) c.503A>G (p.Gln168Arg) c.-9-5A>G (n.-9-5A>G) n.749A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571320A>T | CA342630164 | CHRNB2 | c.497A>T (p.Gln166Leu) c.503A>T (p.Gln168Leu) c.-9-5A>T (n.-9-5A>T) n.749A>T | |
1 | g.154571321G>A | CA421230881 | CHRNB2 | c.498G>A (p.Gln166=) c.504G>A (p.Gln168=) c.-9-4G>A (n.-9-4G>A) n.750G>A | ClinVar dbSNP |
1 | g.154571321G>C | CA342630165 | CHRNB2 | c.498G>C (p.Gln166His) c.504G>C (p.Gln168His) c.-9-4G>C (n.-9-4G>C) n.750G>C | |
1 | g.154571321G>T | CA342630166 | CHRNB2 | c.498G>T (p.Gln166His) c.504G>T (p.Gln168His) c.-9-4G>T (n.-9-4G>T) n.750G>T | |
1 | g.154571322C>A | CA342630167 | CHRNB2 | c.499C>A (p.Gln167Lys) c.505C>A (p.Gln169Lys) c.-9-3C>A (n.-9-3C>A) n.751C>A | gnomAD v4 COSMIC |
1 | g.154571322C>G | CA342630169 | CHRNB2 | c.499C>G (p.Gln167Glu) c.505C>G (p.Gln169Glu) c.-9-3C>G (n.-9-3C>G) n.751C>G | |
1 | g.154571322C>T | CA342630168 | CHRNB2 | c.499C>T (p.Gln167Ter) c.505C>T (p.Gln169Ter) c.-9-3C>T (n.-9-3C>T) n.751C>T | |
1 | g.154571323A>C | CA342630170 | CHRNB2 | c.500A>C (p.Gln167Pro) c.506A>C (p.Gln169Pro) c.-9-2A>C (n.-9-2A>C) n.752A>C | |
1 | g.154571323A>G | CA342630172 | CHRNB2 | c.500A>G (p.Gln167Arg) c.506A>G (p.Gln169Arg) c.-9-2A>G (n.-9-2A>G) n.752A>G | gnomAD v4 |
1 | g.154571323A>T | CA342630171 | CHRNB2 | c.500A>T (p.Gln167Leu) c.506A>T (p.Gln169Leu) c.-9-2A>T (n.-9-2A>T) n.752A>T | |
1 | g.154571324G>A | CA421230886 | CHRNB2 | c.501G>A (p.Gln167=) c.507G>A (p.Gln169=) c.-9-1G>A (n.-9-1G>A) n.753G>A | |
1 | g.154571324G>C | CA342630173 | CHRNB2 | c.501G>C (p.Gln167His) c.507G>C (p.Gln169His) c.-9-1G>C (n.-9-1G>C) n.753G>C | |
1 | g.154571324G>T | CA342630174 | CHRNB2 | c.501G>T (p.Gln167His) c.507G>T (p.Gln169His) c.-9-1G>T (n.-9-1G>T) n.753G>T | |
1 | g.154571325A>C | CA342630175 | CHRNB2 | c.502A>C (p.Asn168His) c.508A>C (p.Asn170His) c.-9A>C (n.-9A>C) n.754A>C | |
1 | g.154571325A>G | CA342630176 | CHRNB2 | c.502A>G (p.Asn168Asp) c.508A>G (p.Asn170Asp) c.-9A>G (n.-9A>G) n.754A>G | |
1 | g.154571325A>T | CA342630177 | CHRNB2 | c.502A>T (p.Asn168Tyr) c.508A>T (p.Asn170Tyr) c.-9A>T (n.-9A>T) n.754A>T | |
1 | g.154571326A>C | CA342630178 | CHRNB2 | c.503A>C (p.Asn168Thr) c.509A>C (p.Asn170Thr) c.-8A>C (n.-8A>C) n.755A>C | |
1 | g.154571326A>G | CA342630179 | CHRNB2 | c.503A>G (p.Asn168Ser) c.509A>G (p.Asn170Ser) c.-8A>G (n.-8A>G) n.755A>G | |
1 | g.154571326A>T | CA342630180 | CHRNB2 | c.503A>T (p.Asn168Ile) c.509A>T (p.Asn170Ile) c.-8A>T (n.-8A>T) n.755A>T | |
1 | g.154571327C>A | CA342630181 | CHRNB2 | c.504C>A (p.Asn168Lys) c.510C>A (p.Asn170Lys) c.-7C>A (n.-7C>A) n.756C>A | |
1 | g.154571327C= | CA2480925218 | CHRNB2 | c.504C= (p.Asn168=) c.510C= (p.Asn170=) c.-7C= (n.-7C=) n.756C= | |
1 | g.154571327C>G | CA342630182 | CHRNB2 | c.504C>G (p.Asn168Lys) c.510C>G (p.Asn170Lys) c.-7C>G (n.-7C>G) n.756C>G | |
1 | g.154571327C>T | CA421230891 | CHRNB2 | c.504C>T (p.Asn168=) c.510C>T (p.Asn170=) c.-7C>T (n.-7C>T) n.756C>T | dbSNP |
1 | g.154571328T>A | CA342630183 | CHRNB2 | c.505T>A (p.Cys169Ser) c.511T>A (p.Cys171Ser) c.-6T>A (n.-6T>A) n.757T>A | |
1 | g.154571328T>C | CA342630184 | CHRNB2 | c.505T>C (p.Cys169Arg) c.511T>C (p.Cys171Arg) c.-6T>C (n.-6T>C) n.757T>C | |
1 | g.154571328T>G | CA342630185 | CHRNB2 | c.505T>G (p.Cys169Gly) c.511T>G (p.Cys171Gly) c.-6T>G (n.-6T>G) n.757T>G | gnomAD v4 |
1 | g.154571329G>A | CA342630188 | CHRNB2 | c.506G>A (p.Cys169Tyr) c.512G>A (p.Cys171Tyr) c.-5G>A (n.-5G>A) n.758G>A | |
1 | g.154571329G>C | CA342630187 | CHRNB2 | c.506G>C (p.Cys169Ser) c.512G>C (p.Cys171Ser) c.-5G>C (n.-5G>C) n.758G>C | |
1 | g.154571329G>T | CA342630186 | CHRNB2 | c.506G>T (p.Cys169Phe) c.512G>T (p.Cys171Phe) c.-5G>T (n.-5G>T) n.758G>T | |
1 | g.154571330C>A | CA342630189 | CHRNB2 | c.507C>A (p.Cys169Ter) c.513C>A (p.Cys171Ter) c.-4C>A (n.-4C>A) n.759C>A | |
1 | g.154571330C>G | CA342630190 | CHRNB2 | c.507C>G (p.Cys169Trp) c.513C>G (p.Cys171Trp) c.-4C>G (n.-4C>G) n.759C>G | |
1 | g.154571330C>T | CA421230896 | CHRNB2 | c.507C>T (p.Cys169=) c.513C>T (p.Cys171=) c.-4C>T (n.-4C>T) n.759C>T | |
1 | g.154571331A= | CA1143453964 | CHRNB2 | c.508A= (p.Thr170=) c.514A= (p.Thr172=) c.-3A= (n.-3A=) n.760A= | |
1 | g.154571331A>C | CA342630191 | CHRNB2 | c.508A>C (p.Thr170Pro) c.514A>C (p.Thr172Pro) c.-3A>C (n.-3A>C) n.760A>C | |
1 | g.154571331A>G | CA30834140 | CHRNB2 | c.508A>G (p.Thr170Ala) c.514A>G (p.Thr172Ala) c.-3A>G (n.-3A>G) n.760A>G | dbSNP |
1 | g.154571331A>T | CA342630192 | CHRNB2 | c.508A>T (p.Thr170Ser) c.514A>T (p.Thr172Ser) c.-3A>T (n.-3A>T) n.760A>T | |
1 | g.154571332C>A | CA342630193 | CHRNB2 | c.509C>A (p.Thr170Asn) c.515C>A (p.Thr172Asn) c.-2C>A (n.-2C>A) n.761C>A | |
1 | g.154571332C= | CA2480925219 | CHRNB2 | c.509C= (p.Thr170=) c.515C= (p.Thr172=) c.-2C= (n.-2C=) n.761C= | |
1 | g.154571332C>G | CA342630194 | CHRNB2 | c.509C>G (p.Thr170Ser) c.515C>G (p.Thr172Ser) c.-2C>G (n.-2C>G) n.761C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571332C>T | CA342630195 | CHRNB2 | c.509C>T (p.Thr170Ile) c.515C>T (p.Thr172Ile) c.-2C>T (n.-2C>T) n.761C>T | |
1 | g.154571333C>A | CA421230900 | CHRNB2 | c.510C>A (p.Thr170=) c.516C>A (p.Thr172=) c.-1C>A (n.-1C>A) n.762C>A | |
1 | g.154571333C>G | CA421230903 | CHRNB2 | c.510C>G (p.Thr170=) c.516C>G (p.Thr172=) c.-1C>G (n.-1C>G) n.762C>G | |
1 | g.154571333C>T | CA421230901 | CHRNB2 | c.510C>T (p.Thr170=) c.516C>T (p.Thr172=) c.-1C>T (n.-1C>T) n.762C>T | |
1 | g.154571334A= | CA2480925220 | CHRNB2 | c.511A= (p.Met171=) c.517A= (p.Met173=) c.1A= (p.Met1=) n.763A= | |
1 | g.154571334A>C | CA342630196 | CHRNB2 | c.511A>C (p.Met171Leu) c.517A>C (p.Met173Leu) c.1A>C (p.Met1Leu) n.763A>C | |
1 | g.154571334A>G | CA342630197 | CHRNB2 | c.511A>G (p.Met171Val) c.517A>G (p.Met173Val) c.1A>G (p.Met1Val) n.763A>G | dbSNP gnomAD v4 |
1 | g.154571334A>T | CA342630198 | CHRNB2 | c.511A>T (p.Met171Leu) c.517A>T (p.Met173Leu) c.1A>T (p.Met1Leu) n.763A>T | |
1 | g.154571335T>A | CA342630199 | CHRNB2 | c.512T>A (p.Met171Lys) c.518T>A (p.Met173Lys) c.2T>A (p.Met1Lys) n.764T>A | |
1 | g.154571335T>C | CA30834146 | CHRNB2 | c.512T>C (p.Met171Thr) c.518T>C (p.Met173Thr) c.2T>C (p.Met1Thr) n.764T>C | dbSNP |
1 | g.154571335T>G | CA342630200 | CHRNB2 | c.512T>G (p.Met171Arg) c.518T>G (p.Met173Arg) c.2T>G (p.Met1Arg) n.764T>G | |
1 | g.154571335T= | CA2480925221 | CHRNB2 | c.512T= (p.Met171=) c.518T= (p.Met173=) c.2T= (p.Met1=) n.764T= | |
1 | g.154571336G>A | CA342630203 | CHRNB2 | c.513G>A (p.Met171Ile) c.519G>A (p.Met173Ile) c.3G>A (p.Met1Ile) n.765G>A | |
1 | g.154571336G>C | CA342630202 | CHRNB2 | c.513G>C (p.Met171Ile) c.519G>C (p.Met173Ile) c.3G>C (p.Met1Ile) n.765G>C | |
1 | g.154571336G>T | CA342630201 | CHRNB2 | c.513G>T (p.Met171Ile) c.519G>T (p.Met173Ile) c.3G>T (p.Met1Ile) n.765G>T | |
1 | g.154571337A>C | CA342630204 | CHRNB2 | c.514A>C (p.Lys172Gln) c.520A>C (p.Lys174Gln) c.4A>C (p.Lys2Gln) n.766A>C | |
1 | g.154571337A>G | CA342630205 | CHRNB2 | c.514A>G (p.Lys172Glu) c.520A>G (p.Lys174Glu) c.4A>G (p.Lys2Glu) n.766A>G | |
1 | g.154571337A>T | CA342630206 | CHRNB2 | c.514A>T (p.Lys172Ter) c.520A>T (p.Lys174Ter) c.4A>T (p.Lys2Ter) n.766A>T | |
1 | g.154571338A= | CA2480925222 | CHRNB2 | c.515A= (p.Lys172=) c.521A= (p.Lys174=) c.5A= (p.Lys2=) n.767A= | |
1 | g.154571338A>C | CA342630207 | CHRNB2 | c.515A>C (p.Lys172Thr) c.521A>C (p.Lys174Thr) c.5A>C (p.Lys2Thr) n.767A>C | |
1 | g.154571338A>G | CA342630208 | CHRNB2 | c.515A>G (p.Lys172Arg) c.521A>G (p.Lys174Arg) c.5A>G (p.Lys2Arg) n.767A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571338A>T | CA342630209 | CHRNB2 | c.515A>T (p.Lys172Met) c.521A>T (p.Lys174Met) c.5A>T (p.Lys2Met) n.767A>T | |
1 | g.154571339G>A | CA421230911 | CHRNB2 | c.516G>A (p.Lys172=) c.522G>A (p.Lys174=) c.6G>A (p.Lys2=) n.768G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571339G>C | CA342630210 | CHRNB2 | c.516G>C (p.Lys172Asn) c.522G>C (p.Lys174Asn) c.6G>C (p.Lys2Asn) n.768G>C | dbSNP |
1 | g.154571339G= | CA2480925223 | CHRNB2 | c.516G= (p.Lys172=) c.522G= (p.Lys174=) c.6G= (p.Lys2=) n.768G= | |
1 | g.154571339G>T | CA342630211 | CHRNB2 | c.516G>T (p.Lys172Asn) c.522G>T (p.Lys174Asn) c.6G>T (p.Lys2Asn) n.768G>T | |
1 | g.154571340T>A | CA342630212 | CHRNB2 | c.517T>A (p.Phe173Ile) c.523T>A (p.Phe175Ile) c.7T>A (p.Phe3Ile) n.769T>A | |
1 | g.154571340T>C | CA342630213 | CHRNB2 | c.517T>C (p.Phe173Leu) c.523T>C (p.Phe175Leu) c.7T>C (p.Phe3Leu) n.769T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571340T>G | CA342630214 | CHRNB2 | c.517T>G (p.Phe173Val) c.523T>G (p.Phe175Val) c.7T>G (p.Phe3Val) n.769T>G | |
1 | g.154571340T= | CA2480925224 | CHRNB2 | c.517T= (p.Phe173=) c.523T= (p.Phe175=) c.7T= (p.Phe3=) n.769T= | |
1 | g.154571340_154571343dup | CA2648169730 | CHRNB2 | c.517_520dup (p.Arg174LeufsTer18) c.523_526dup (p.Arg176LeufsTer18) c.7_10dup (p.Arg4LeufsTer18) n.769_772dup | gnomAD v4 |
1 | g.154571341T>A | CA342630215 | CHRNB2 | c.518T>A (p.Phe173Tyr) c.524T>A (p.Phe175Tyr) c.8T>A (p.Phe3Tyr) n.770T>A | |
1 | g.154571341T>C | CA342630216 | CHRNB2 | c.518T>C (p.Phe173Ser) c.524T>C (p.Phe175Ser) c.8T>C (p.Phe3Ser) n.770T>C | |
1 | g.154571341T>G | CA342630217 | CHRNB2 | c.518T>G (p.Phe173Cys) c.524T>G (p.Phe175Cys) c.8T>G (p.Phe3Cys) n.770T>G | |
1 | g.154571342C>A | CA342630219 | CHRNB2 | c.519C>A (p.Phe173Leu) c.525C>A (p.Phe175Leu) c.9C>A (p.Phe3Leu) n.771C>A | |
1 | g.154571342C>G | CA342630218 | CHRNB2 | c.519C>G (p.Phe173Leu) c.525C>G (p.Phe175Leu) c.9C>G (p.Phe3Leu) n.771C>G | gnomAD v4 |
1 | g.154571342C>T | CA421230915 | CHRNB2 | c.519C>T (p.Phe173=) c.525C>T (p.Phe175=) c.9C>T (p.Phe3=) n.771C>T | |
1 | g.154571343dup | CA2697554563 | CHRNB2 | c.520dup (p.Arg174ProfsTer17) c.526dup (p.Arg176ProfsTer17) c.10dup (p.Arg4ProfsTer17) n.772dup | ClinVar |
1 | g.154571343C>A | CA342630220 | CHRNB2 | c.520C>A (p.Arg174Ser) c.526C>A (p.Arg176Ser) c.10C>A (p.Arg4Ser) n.772C>A | |
1 | g.154571343C>G | CA342630221 | CHRNB2 | c.520C>G (p.Arg174Gly) c.526C>G (p.Arg176Gly) c.10C>G (p.Arg4Gly) n.772C>G | |
1 | g.154571343C>T | CA342630222 | CHRNB2 | c.520C>T (p.Arg174Cys) c.526C>T (p.Arg176Cys) c.10C>T (p.Arg4Cys) n.772C>T | gnomAD v4 COSMIC |
1 | g.154571344G>A | CA30834149 | CHRNB2 | c.521G>A (p.Arg174His) c.527G>A (p.Arg176His) c.11G>A (p.Arg4His) n.773G>A | dbSNP |
1 | g.154571344G>C | CA342630223 | CHRNB2 | c.521G>C (p.Arg174Pro) c.527G>C (p.Arg176Pro) c.11G>C (p.Arg4Pro) n.773G>C | gnomAD v4 |
1 | g.154571344G= | CA2480925225 | CHRNB2 | c.521G= (p.Arg174=) c.527G= (p.Arg176=) c.11G= (p.Arg4=) n.773G= | |
1 | g.154571344G>T | CA342630224 | CHRNB2 | c.521G>T (p.Arg174Leu) c.527G>T (p.Arg176Leu) c.11G>T (p.Arg4Leu) n.773G>T | |
1 | g.154571345T>A | CA421230918 | CHRNB2 | c.522T>A (p.Arg174=) c.528T>A (p.Arg176=) c.12T>A (p.Arg4=) n.774T>A | |
1 | g.154571345T>C | CA421230919 | CHRNB2 | c.522T>C (p.Arg174=) c.528T>C (p.Arg176=) c.12T>C (p.Arg4=) n.774T>C | |
1 | g.154571345T>G | CA421230920 | CHRNB2 | c.522T>G (p.Arg174=) c.528T>G (p.Arg176=) c.12T>G (p.Arg4=) n.774T>G | |
1 | g.154571346T>A | CA342630225 | CHRNB2 | c.523T>A (p.Ser175Thr) c.529T>A (p.Ser177Thr) c.13T>A (p.Ser5Thr) n.775T>A | |
1 | g.154571346T>C | CA342630226 | CHRNB2 | c.523T>C (p.Ser175Pro) c.529T>C (p.Ser177Pro) c.13T>C (p.Ser5Pro) n.775T>C | |
1 | g.154571346T>G | CA342630227 | CHRNB2 | c.523T>G (p.Ser175Ala) c.529T>G (p.Ser177Ala) c.13T>G (p.Ser5Ala) n.775T>G | |
1 | g.154571347C>A | CA342630228 | CHRNB2 | c.524C>A (p.Ser175Ter) c.530C>A (p.Ser177Ter) c.14C>A (p.Ser5Ter) n.776C>A | |
1 | g.154571347C= | CA1140959566 | CHRNB2 | c.524C= (p.Ser175=) c.530C= (p.Ser177=) c.14C= (p.Ser5=) n.776C= | |
1 | g.154571347C>G | CA30834161 | CHRNB2 | c.524C>G (p.Ser175Trp) c.530C>G (p.Ser177Trp) c.14C>G (p.Ser5Trp) n.776C>G | ClinVar dbSNP |
1 | g.154571347C>T | CA1130739 | CHRNB2 | c.524C>T (p.Ser175Leu) c.530C>T (p.Ser177Leu) c.14C>T (p.Ser5Leu) n.776C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571348G>A | CA1130740 | CHRNB2 | c.525G>A (p.Ser175=) c.531G>A (p.Ser177=) c.15G>A (p.Ser5=) n.777G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571348G>C | CA421230925 | CHRNB2 | c.525G>C (p.Ser175=) c.531G>C (p.Ser177=) c.15G>C (p.Ser5=) n.777G>C | |
1 | g.154571348G= | CA2480925226 | CHRNB2 | c.525G= (p.Ser175=) c.531G= (p.Ser177=) c.15G= (p.Ser5=) n.777G= | |
1 | g.154571348G>T | CA421230927 | CHRNB2 | c.525G>T (p.Ser175=) c.531G>T (p.Ser177=) c.15G>T (p.Ser5=) n.777G>T | |
1 | g.154571349T>A | CA342630231 | CHRNB2 | c.526T>A (p.Trp176Arg) c.532T>A (p.Trp178Arg) c.16T>A (p.Trp6Arg) n.778T>A | |
1 | g.154571349T>C | CA342630229 | CHRNB2 | c.526T>C (p.Trp176Arg) c.532T>C (p.Trp178Arg) c.16T>C (p.Trp6Arg) n.778T>C | |
1 | g.154571349T>G | CA342630230 | CHRNB2 | c.526T>G (p.Trp176Gly) c.532T>G (p.Trp178Gly) c.16T>G (p.Trp6Gly) n.778T>G | |
1 | g.154571350G>A | CA342630232 | CHRNB2 | c.527G>A (p.Trp176Ter) c.533G>A (p.Trp178Ter) c.17G>A (p.Trp6Ter) n.779G>A | |
1 | g.154571350G>C | CA342630234 | CHRNB2 | c.527G>C (p.Trp176Ser) c.533G>C (p.Trp178Ser) c.17G>C (p.Trp6Ser) n.779G>C | |
1 | g.154571350G>T | CA342630233 | CHRNB2 | c.527G>T (p.Trp176Leu) c.533G>T (p.Trp178Leu) c.17G>T (p.Trp6Leu) n.779G>T | |
1 | g.154571351G>A | CA342630235 | CHRNB2 | c.528G>A (p.Trp176Ter) c.534G>A (p.Trp178Ter) c.18G>A (p.Trp6Ter) n.780G>A | |
1 | g.154571351G>C | CA342630236 | CHRNB2 | c.528G>C (p.Trp176Cys) c.534G>C (p.Trp178Cys) c.18G>C (p.Trp6Cys) n.780G>C | |
1 | g.154571351G>T | CA342630237 | CHRNB2 | c.528G>T (p.Trp176Cys) c.534G>T (p.Trp178Cys) c.18G>T (p.Trp6Cys) n.780G>T | |
1 | g.154571352A>C | CA342630238 | CHRNB2 | c.529A>C (p.Thr177Pro) c.535A>C (p.Thr179Pro) c.19A>C (p.Thr7Pro) n.781A>C | |
1 | g.154571352A>G | CA342630240 | CHRNB2 | c.529A>G (p.Thr177Ala) c.535A>G (p.Thr179Ala) c.19A>G (p.Thr7Ala) n.781A>G | |
1 | g.154571352A>T | CA342630241 | CHRNB2 | c.529A>T (p.Thr177Ser) c.535A>T (p.Thr179Ser) c.19A>T (p.Thr7Ser) n.781A>T | |
1 | g.154571353C>A | CA342630242 | CHRNB2 | c.530C>A (p.Thr177Asn) c.536C>A (p.Thr179Asn) c.20C>A (p.Thr7Asn) n.782C>A | |
1 | g.154571353C>G | CA342630243 | CHRNB2 | c.530C>G (p.Thr177Ser) c.536C>G (p.Thr179Ser) c.20C>G (p.Thr7Ser) n.782C>G | |
1 | g.154571353C>T | CA342630244 | CHRNB2 | c.530C>T (p.Thr177Ile) c.536C>T (p.Thr179Ile) c.20C>T (p.Thr7Ile) n.782C>T | |
1 | g.154571354C>A | CA421230929 | CHRNB2 | c.531C>A (p.Thr177=) c.537C>A (p.Thr179=) c.21C>A (p.Thr7=) n.783C>A | ClinVar dbSNP |
1 | g.154571354C>G | CA421230930 | CHRNB2 | c.531C>G (p.Thr177=) c.537C>G (p.Thr179=) c.21C>G (p.Thr7=) n.783C>G | |
1 | g.154571354C>T | CA421230931 | CHRNB2 | c.531C>T (p.Thr177=) c.537C>T (p.Thr179=) c.21C>T (p.Thr7=) n.783C>T | |
1 | g.154571355T>A | CA342630245 | CHRNB2 | c.532T>A (p.Tyr178Asn) c.538T>A (p.Tyr180Asn) c.22T>A (p.Tyr8Asn) n.784T>A | |
1 | g.154571355T>C | CA342630246 | CHRNB2 | c.532T>C (p.Tyr178His) c.538T>C (p.Tyr180His) c.22T>C (p.Tyr8His) n.784T>C | gnomAD v4 |
1 | g.154571355T>G | CA342630247 | CHRNB2 | c.532T>G (p.Tyr178Asp) c.538T>G (p.Tyr180Asp) c.22T>G (p.Tyr8Asp) n.784T>G | |
1 | g.154571356A>C | CA342630248 | CHRNB2 | c.533A>C (p.Tyr178Ser) c.539A>C (p.Tyr180Ser) c.23A>C (p.Tyr8Ser) n.785A>C | |
1 | g.154571356A>G | CA342630250 | CHRNB2 | c.533A>G (p.Tyr178Cys) c.539A>G (p.Tyr180Cys) c.23A>G (p.Tyr8Cys) n.785A>G | gnomAD v4 |
1 | g.154571356A>T | CA342630249 | CHRNB2 | c.533A>T (p.Tyr178Phe) c.539A>T (p.Tyr180Phe) c.23A>T (p.Tyr8Phe) n.785A>T | |
1 | g.154571357C>A | CA342630252 | CHRNB2 | c.534C>A (p.Tyr178Ter) c.540C>A (p.Tyr180Ter) c.24C>A (p.Tyr8Ter) n.786C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571357C= | CA2480925227 | CHRNB2 | c.534C= (p.Tyr178=) c.540C= (p.Tyr180=) c.24C= (p.Tyr8=) n.786C= | |
1 | g.154571357C>G | CA342630253 | CHRNB2 | c.534C>G (p.Tyr178Ter) c.540C>G (p.Tyr180Ter) c.24C>G (p.Tyr8Ter) n.786C>G | |
1 | g.154571357C>T | CA421230932 | CHRNB2 | c.534C>T (p.Tyr178=) c.540C>T (p.Tyr180=) c.24C>T (p.Tyr8=) n.786C>T | ClinVar dbSNP gnomAD v4 |
1 | g.154571358G>A | CA1130741 | CHRNB2 | c.535G>A (p.Asp179Asn) c.541G>A (p.Asp181Asn) c.25G>A (p.Asp9Asn) n.787G>A | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.154571358G>C | CA342630254 | CHRNB2 | c.535G>C (p.Asp179His) c.541G>C (p.Asp181His) c.25G>C (p.Asp9His) n.787G>C | ClinVar gnomAD v4 |
1 | g.154571358G= | CA2480925228 | CHRNB2 | c.535G= (p.Asp179=) c.541G= (p.Asp181=) c.25G= (p.Asp9=) n.787G= | |
1 | g.154571358G>T | CA342630255 | CHRNB2 | c.535G>T (p.Asp179Tyr) c.541G>T (p.Asp181Tyr) c.25G>T (p.Asp9Tyr) n.787G>T | gnomAD v4 |
1 | g.154571359A>C | CA342630256 | CHRNB2 | c.536A>C (p.Asp179Ala) c.542A>C (p.Asp181Ala) c.26A>C (p.Asp9Ala) n.788A>C | |
1 | g.154571359A>G | CA342630257 | CHRNB2 | c.536A>G (p.Asp179Gly) c.542A>G (p.Asp181Gly) c.26A>G (p.Asp9Gly) n.788A>G | ClinVar gnomAD v4 |
1 | g.154571359A>T | CA342630258 | CHRNB2 | c.536A>T (p.Asp179Val) c.542A>T (p.Asp181Val) c.26A>T (p.Asp9Val) n.788A>T |