Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.49016124del | CA2814675262 | LHB | c.372del (p.Asp125ThrfsTer4) n.463del c.366del (p.Asp123ThrfsTer4) c.420del (p.Asp141ThrfsTer4) | |
19 | g.49016123T>A | CA406777088 | LHB | c.371A>T (p.Lys124Ile) n.462A>T c.365A>T (p.Lys122Ile) c.419A>T (p.Lys140Ile) | |
19 | g.49016123T>C | CA406777090 | LHB | c.371A>G (p.Lys124Arg) n.462A>G c.365A>G (p.Lys122Arg) c.419A>G (p.Lys140Arg) | |
19 | g.49016123T>G | CA406777092 | LHB | c.371A>C (p.Lys124Thr) n.462A>C c.365A>C (p.Lys122Thr) c.419A>C (p.Lys140Thr) | |
19 | g.49016124T>A | CA406777095 | LHB | c.370A>T (p.Lys124Ter) n.461A>T c.364A>T (p.Lys122Ter) c.418A>T (p.Lys140Ter) | |
19 | g.49016124T>C | CA406777096 | LHB | c.370A>G (p.Lys124Glu) n.461A>G c.364A>G (p.Lys122Glu) c.418A>G (p.Lys140Glu) | gnomAD v4 |
19 | g.49016124T>G | CA406777094 | LHB | c.370A>C (p.Lys124Gln) n.461A>C c.364A>C (p.Lys122Gln) c.418A>C (p.Lys140Gln) | |
19 | g.49016125G>A | CA9564264 | LHB | c.369C>T (p.Pro123=) n.460C>T c.363C>T (p.Pro121=) c.417C>T (p.Pro139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016125G>C | CA508277225 | LHB | c.369C>G (p.Pro123=) n.460C>G c.363C>G (p.Pro121=) c.417C>G (p.Pro139=) | |
19 | g.49016125G= | CA2340186763 | LHB | c.369C= (p.Pro123=) n.460C= c.363C= (p.Pro121=) c.417C= (p.Pro139=) | |
19 | g.49016125G>T | CA508277224 | LHB | c.369C>A (p.Pro123=) n.460C>A c.363C>A (p.Pro121=) c.417C>A (p.Pro139=) | |
19 | g.49016126_49016127del | CA2735959700 | LHB | c.368_369del (p.Pro123GlnfsTer8) n.459_460del c.362_363del (p.Pro121GlnfsTer8) c.416_417del (p.Pro139GlnfsTer8) | dbSNP |
19 | g.49016126G>A | CA406777099 | LHB | c.368C>T (p.Pro123Leu) n.459C>T c.362C>T (p.Pro121Leu) c.416C>T (p.Pro139Leu) | gnomAD v4 |
19 | g.49016126G>C | CA406777102 | LHB | c.368C>G (p.Pro123Arg) n.459C>G c.362C>G (p.Pro121Arg) c.416C>G (p.Pro139Arg) | |
19 | g.49016126G>T | CA406777101 | LHB | c.368C>A (p.Pro123His) n.459C>A c.362C>A (p.Pro121His) c.416C>A (p.Pro139His) | |
19 | g.49016127G>A | CA9564265 | LHB | c.367C>T (p.Pro123Ser) n.458C>T c.361C>T (p.Pro121Ser) c.415C>T (p.Pro139Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016127G>C | CA9564267 | LHB | c.367C>G (p.Pro123Ala) n.458C>G c.361C>G (p.Pro121Ala) c.415C>G (p.Pro139Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016127G= | CA2340186766 | LHB | c.367C= (p.Pro123=) n.458C= c.361C= (p.Pro121=) c.415C= (p.Pro139=) | |
19 | g.49016127G>T | CA9564266 | LHB | c.367C>A (p.Pro123Thr) n.458C>A c.361C>A (p.Pro121Thr) c.415C>A (p.Pro139Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016128A= | CA2340186768 | LHB | c.366T= (p.Gly122=) n.457T= c.360T= (p.Gly120=) c.414T= (p.Gly138=) | |
19 | g.49016128A>C | CA508277229 | LHB | c.366T>G (p.Gly122=) n.457T>G c.360T>G (p.Gly120=) c.414T>G (p.Gly138=) | dbSNP |
19 | g.49016128A>G | CA508277230 | LHB | c.366T>C (p.Gly122=) n.457T>C c.360T>C (p.Gly120=) c.414T>C (p.Gly138=) | |
19 | g.49016128A>T | CA508277231 | LHB | c.366T>A (p.Gly122=) n.457T>A c.360T>A (p.Gly120=) c.414T>A (p.Gly138=) | |
19 | g.49016130_49016135del | CA2586297866 | LHB | c.361_366del (p.Gly121_Gly122del) n.452_457del c.355_360del (p.Gly119_Gly120del) c.409_414del (p.Gly137_Gly138del) | gnomAD v4 |
19 | g.49016129C>A | CA406777106 | LHB | c.365G>T (p.Gly122Val) n.456G>T c.359G>T (p.Gly120Val) c.413G>T (p.Gly138Val) | |
19 | g.49016129C= | CA2340186769 | LHB | c.365G= (p.Gly122=) n.456G= c.359G= (p.Gly120=) c.413G= (p.Gly138=) | |
19 | g.49016129C>G | CA406777107 | LHB | c.365G>C (p.Gly122Ala) n.456G>C c.359G>C (p.Gly120Ala) c.413G>C (p.Gly138Ala) | gnomAD v4 |
19 | g.49016129C>T | CA406777109 | LHB | c.365G>A (p.Gly122Asp) n.456G>A c.359G>A (p.Gly120Asp) c.413G>A (p.Gly138Asp) | dbSNP gnomAD v4 |
19 | g.49016133dup | CA2832573722 | LHB | c.365dup (p.Pro123SerfsTer9) n.456dup c.359dup (p.Pro121SerfsTer9) c.413dup (p.Pro139SerfsTer9) | |
19 | g.49016130C>A | CA406777111 | LHB | c.364G>T (p.Gly122Cys) n.455G>T c.358G>T (p.Gly120Cys) c.412G>T (p.Gly138Cys) | |
19 | g.49016130C= | CA2340186772 | LHB | c.364G= (p.Gly122=) n.455G= c.358G= (p.Gly120=) c.412G= (p.Gly138=) | |
19 | g.49016130C>G | CA406777113 | LHB | c.364G>C (p.Gly122Arg) n.455G>C c.358G>C (p.Gly120Arg) c.412G>C (p.Gly138Arg) | |
19 | g.49016130C>T | CA123937 | LHB | c.364G>A (p.Gly122Ser) n.455G>A c.358G>A (p.Gly120Ser) c.412G>A (p.Gly138Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016131C>A | CA508277233 | LHB | c.363G>T (p.Gly121=) n.454G>T c.357G>T (p.Gly119=) c.411G>T (p.Gly137=) | |
19 | g.49016131C>G | CA508277234 | LHB | c.363G>C (p.Gly121=) n.454G>C c.357G>C (p.Gly119=) c.411G>C (p.Gly137=) | |
19 | g.49016131C>T | CA508277236 | LHB | c.363G>A (p.Gly121=) n.454G>A c.357G>A (p.Gly119=) c.411G>A (p.Gly137=) | gnomAD v4 |
19 | g.49016132C>A | CA406777116 | LHB | c.362G>T (p.Gly121Val) n.453G>T c.356G>T (p.Gly119Val) c.410G>T (p.Gly137Val) | |
19 | g.49016132C>G | CA406777117 | LHB | c.362G>C (p.Gly121Ala) n.453G>C c.356G>C (p.Gly119Ala) c.410G>C (p.Gly137Ala) | |
19 | g.49016132C>T | CA406777119 | LHB | c.362G>A (p.Gly121Glu) n.453G>A c.356G>A (p.Gly119Glu) c.410G>A (p.Gly137Glu) | |
19 | g.49016133C>A | CA406777124 | LHB | c.361G>T (p.Gly121Trp) n.452G>T c.355G>T (p.Gly119Trp) c.409G>T (p.Gly137Trp) | gnomAD v4 |
19 | g.49016133C>G | CA406777121 | LHB | c.361G>C (p.Gly121Arg) n.452G>C c.355G>C (p.Gly119Arg) c.409G>C (p.Gly137Arg) | |
19 | g.49016133C>T | CA406777122 | LHB | c.361G>A (p.Gly121Arg) n.452G>A c.355G>A (p.Gly119Arg) c.409G>A (p.Gly137Arg) | gnomAD v4 |
19 | g.49016134A= | CA2340186776 | LHB | c.360T= (p.Cys120=) n.451T= c.354T= (p.Cys118=) c.408T= (p.Cys136=) | |
19 | g.49016134A>C | CA9564268 | LHB | c.360T>G (p.Cys120Trp) n.451T>G c.354T>G (p.Cys118Trp) c.408T>G (p.Cys136Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016134A>G | CA508277238 | LHB | c.360T>C (p.Cys120=) n.451T>C c.354T>C (p.Cys118=) c.408T>C (p.Cys136=) | dbSNP gnomAD v4 |
19 | g.49016134A>T | CA406777126 | LHB | c.360T>A (p.Cys120Ter) n.451T>A c.354T>A (p.Cys118Ter) c.408T>A (p.Cys136Ter) | |
19 | g.49016135C>A | CA406777128 | LHB | c.359G>T (p.Cys120Phe) n.450G>T c.353G>T (p.Cys118Phe) c.407G>T (p.Cys136Phe) | |
19 | g.49016135C>G | CA406777129 | LHB | c.359G>C (p.Cys120Ser) n.450G>C c.353G>C (p.Cys118Ser) c.407G>C (p.Cys136Ser) | |
19 | g.49016135C>T | CA406777131 | LHB | c.359G>A (p.Cys120Tyr) n.450G>A c.353G>A (p.Cys118Tyr) c.407G>A (p.Cys136Tyr) | COSMIC |
19 | g.49016136A= | CA2340186778 | LHB | c.358T= (p.Cys120=) n.449T= c.352T= (p.Cys118=) c.406T= (p.Cys136=) | |
19 | g.49016136A>C | CA406777133 | LHB | c.358T>G (p.Cys120Gly) n.449T>G c.352T>G (p.Cys118Gly) c.406T>G (p.Cys136Gly) | |
19 | g.49016136A>G | CA406777134 | LHB | c.358T>C (p.Cys120Arg) n.449T>C c.352T>C (p.Cys118Arg) c.406T>C (p.Cys136Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49016136A>T | CA406777136 | LHB | c.358T>A (p.Cys120Ser) n.449T>A c.352T>A (p.Cys118Ser) c.406T>A (p.Cys136Ser) | |
19 | g.49016137G>A | CA508277240 | LHB | c.357C>T (p.Asp119=) n.448C>T c.351C>T (p.Asp117=) c.405C>T (p.Asp135=) | |
19 | g.49016137G>C | CA406777137 | LHB | c.357C>G (p.Asp119Glu) n.448C>G c.351C>G (p.Asp117Glu) c.405C>G (p.Asp135Glu) | |
19 | g.49016137G>T | CA406777139 | LHB | c.357C>A (p.Asp119Glu) n.448C>A c.351C>A (p.Asp117Glu) c.405C>A (p.Asp135Glu) | |
19 | g.49016138T>A | CA406777145 | LHB | c.356A>T (p.Asp119Val) n.447A>T c.350A>T (p.Asp117Val) c.404A>T (p.Asp135Val) | |
19 | g.49016138T>C | CA406777143 | LHB | c.356A>G (p.Asp119Gly) n.447A>G c.350A>G (p.Asp117Gly) c.404A>G (p.Asp135Gly) | |
19 | g.49016138T>G | CA406777141 | LHB | c.356A>C (p.Asp119Ala) n.447A>C c.350A>C (p.Asp117Ala) c.404A>C (p.Asp135Ala) | |
19 | g.49016139C>A | CA406777146 | LHB | c.355G>T (p.Asp119Tyr) n.446G>T c.349G>T (p.Asp117Tyr) c.403G>T (p.Asp135Tyr) | |
19 | g.49016139C>G | CA406777148 | LHB | c.355G>C (p.Asp119His) n.446G>C c.349G>C (p.Asp117His) c.403G>C (p.Asp135His) | |
19 | g.49016139C>T | CA406777150 | LHB | c.355G>A (p.Asp119Asn) n.446G>A c.349G>A (p.Asp117Asn) c.403G>A (p.Asp135Asn) | |
19 | g.49016139_49016141delinsCAG | CA2340186780 | LHB | c.353_355delinsCTG (p.Ser118=) n.444_446delinsCTG c.347_349delinsCTG (p.Ser116=) c.401_403delinsCTG (p.Ser134=) | |
19 | g.49016140A= | CA2340186782 | LHB | c.354T= (p.Ser118=) n.445T= c.348T= (p.Ser116=) c.402T= (p.Ser134=) | |
19 | g.49016140A>C | CA508277245 | LHB | c.354T>G (p.Ser118=) n.445T>G c.348T>G (p.Ser116=) c.402T>G (p.Ser134=) | COSMIC |
19 | g.49016140A>G | CA9564270 | LHB | c.354T>C (p.Ser118=) n.445T>C c.348T>C (p.Ser116=) c.402T>C (p.Ser134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016140A>T | CA508277246 | LHB | c.354T>A (p.Ser118=) n.445T>A c.348T>A (p.Ser116=) c.402T>A (p.Ser134=) | |
19 | g.49016142_49016143del | CA9564269 | LHB | c.353_354del (p.Ser118Ter) n.444_445del c.347_348del (p.Ser116Ter) c.401_402del (p.Ser134Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016141G>A | CA406777157 | LHB | c.353C>T (p.Ser118Phe) n.444C>T c.347C>T (p.Ser116Phe) c.401C>T (p.Ser134Phe) | |
19 | g.49016141G>C | CA406777156 | LHB | c.353C>G (p.Ser118Cys) n.444C>G c.347C>G (p.Ser116Cys) c.401C>G (p.Ser134Cys) | |
19 | g.49016141G>T | CA406777154 | LHB | c.353C>A (p.Ser118Tyr) n.444C>A c.347C>A (p.Ser116Tyr) c.401C>A (p.Ser134Tyr) | |
19 | g.49016142A= | CA2340186784 | LHB | c.352T= (p.Ser118=) n.443T= c.346T= (p.Ser116=) c.400T= (p.Ser134=) | |
19 | g.49016142A>C | CA406777158 | LHB | c.352T>G (p.Ser118Ala) n.443T>G c.346T>G (p.Ser116Ala) c.400T>G (p.Ser134Ala) | |
19 | g.49016142A>G | CA406777160 | LHB | c.352T>C (p.Ser118Pro) n.443T>C c.346T>C (p.Ser116Pro) c.400T>C (p.Ser134Pro) | |
19 | g.49016142A>T | CA9564271 | LHB | c.352T>A (p.Ser118Thr) n.443T>A c.346T>A (p.Ser116Thr) c.400T>A (p.Ser134Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016143G>A | CA508277249 | LHB | c.351C>T (p.Thr117=) n.442C>T c.345C>T (p.Thr115=) c.399C>T (p.Thr133=) | gnomAD v4 |
19 | g.49016143G>C | CA508277250 | LHB | c.351C>G (p.Thr117=) n.442C>G c.345C>G (p.Thr115=) c.399C>G (p.Thr133=) | |
19 | g.49016143G>T | CA508277252 | LHB | c.351C>A (p.Thr117=) n.442C>A c.345C>A (p.Thr115=) c.399C>A (p.Thr133=) | |
19 | g.49016144G>A | CA406777163 | LHB | c.350C>T (p.Thr117Ile) n.441C>T c.344C>T (p.Thr115Ile) c.398C>T (p.Thr133Ile) | |
19 | g.49016144G>C | CA406777164 | LHB | c.350C>G (p.Thr117Ser) n.441C>G c.344C>G (p.Thr115Ser) c.398C>G (p.Thr133Ser) | |
19 | g.49016144G>T | CA406777166 | LHB | c.350C>A (p.Thr117Asn) n.441C>A c.344C>A (p.Thr115Asn) c.398C>A (p.Thr133Asn) | |
19 | g.49016145T>A | CA406777168 | LHB | c.349A>T (p.Thr117Ser) n.440A>T c.343A>T (p.Thr115Ser) c.397A>T (p.Thr133Ser) | |
19 | g.49016145T>C | CA406777171 | LHB | c.349A>G (p.Thr117Ala) n.440A>G c.343A>G (p.Thr115Ala) c.397A>G (p.Thr133Ala) | |
19 | g.49016145T>G | CA406777169 | LHB | c.349A>C (p.Thr117Pro) n.440A>C c.343A>C (p.Thr115Pro) c.397A>C (p.Thr133Pro) | gnomAD v4 |
19 | g.49016146G>A | CA508277253 | LHB | c.348C>T (p.Ser116=) n.439C>T c.342C>T (p.Ser114=) c.396C>T (p.Ser132=) | gnomAD v4 |
19 | g.49016146G>C | CA406777173 | LHB | c.348C>G (p.Ser116Arg) n.439C>G c.342C>G (p.Ser114Arg) c.396C>G (p.Ser132Arg) | |
19 | g.49016146G= | CA2340186786 | LHB | c.348C= (p.Ser116=) n.439C= c.342C= (p.Ser114=) c.396C= (p.Ser132=) | |
19 | g.49016146G>T | CA9564272 | LHB | c.348C>A (p.Ser116Arg) n.439C>A c.342C>A (p.Ser114Arg) c.396C>A (p.Ser132Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016146_49016147delinsGC | CA2340186788 | LHB | c.347_348delinsGC (p.Ser116=) n.438_439delinsGC c.341_342delinsGC (p.Ser114=) c.395_396delinsGC (p.Ser132=) | |
19 | g.49016147del | CA883071701 | LHB | c.347del (p.Ser116ThrfsTer13) n.438del c.341del (p.Ser114ThrfsTer13) c.395del (p.Ser132ThrfsTer13) | dbSNP |
19 | g.49016147C>A | CA406777175 | LHB | c.347G>T (p.Ser116Ile) n.438G>T c.341G>T (p.Ser114Ile) c.395G>T (p.Ser132Ile) | |
19 | g.49016147C>G | CA406777177 | LHB | c.347G>C (p.Ser116Thr) n.438G>C c.341G>C (p.Ser114Thr) c.395G>C (p.Ser132Thr) | |
19 | g.49016147C>T | CA406777179 | LHB | c.347G>A (p.Ser116Asn) n.438G>A c.341G>A (p.Ser114Asn) c.395G>A (p.Ser132Asn) | COSMIC |
19 | g.49016148T>A | CA406777181 | LHB | c.346A>T (p.Ser116Cys) n.437A>T c.340A>T (p.Ser114Cys) c.394A>T (p.Ser132Cys) | |
19 | g.49016148T>C | CA406777183 | LHB | c.346A>G (p.Ser116Gly) n.437A>G c.340A>G (p.Ser114Gly) c.394A>G (p.Ser132Gly) | |
19 | g.49016148T>G | CA406777185 | LHB | c.346A>C (p.Ser116Arg) n.437A>C c.340A>C (p.Ser114Arg) c.394A>C (p.Ser132Arg) | |
19 | g.49016149G>A | CA508277256 | LHB | c.345C>T (p.Arg115=) n.436C>T c.339C>T (p.Arg113=) c.393C>T (p.Arg131=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016149G>C | CA508277255 | LHB | c.345C>G (p.Arg115=) n.436C>G c.339C>G (p.Arg113=) c.393C>G (p.Arg131=) | |
19 | g.49016149G= | CA2340186791 | LHB | c.345C= (p.Arg115=) n.436C= c.339C= (p.Arg113=) c.393C= (p.Arg131=) | |
19 | g.49016149G>T | CA508277254 | LHB | c.345C>A (p.Arg115=) n.436C>A c.339C>A (p.Arg113=) c.393C>A (p.Arg131=) | |
19 | g.49016150C>A | CA406777186 | LHB | c.344G>T (p.Arg115Leu) n.435G>T c.338G>T (p.Arg113Leu) c.392G>T (p.Arg131Leu) | |
19 | g.49016150C= | CA2340186793 | LHB | c.344G= (p.Arg115=) n.435G= c.338G= (p.Arg113=) c.392G= (p.Arg131=) | |
19 | g.49016150C>G | CA406777188 | LHB | c.344G>C (p.Arg115Pro) n.435G>C c.338G>C (p.Arg113Pro) c.392G>C (p.Arg131Pro) | |
19 | g.49016150C>T | CA9564273 | LHB | c.344G>A (p.Arg115His) n.435G>A c.338G>A (p.Arg113His) c.392G>A (p.Arg131His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49016151G>A | CA9564274 | LHB | c.343C>T (p.Arg115Cys) n.434C>T c.337C>T (p.Arg113Cys) c.391C>T (p.Arg131Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016151G>C | CA406777192 | LHB | c.343C>G (p.Arg115Gly) n.434C>G c.337C>G (p.Arg113Gly) c.391C>G (p.Arg131Gly) | gnomAD v4 COSMIC |
19 | g.49016151G= | CA2340186795 | LHB | c.343C= (p.Arg115=) n.434C= c.337C= (p.Arg113=) c.391C= (p.Arg131=) | |
19 | g.49016151G>T | CA406777190 | LHB | c.343C>A (p.Arg115Ser) n.434C>A c.337C>A (p.Arg113Ser) c.391C>A (p.Arg131Ser) | gnomAD v4 |
19 | g.49016152G>A | CA508277257 | LHB | c.342C>T (p.Arg114=) n.433C>T c.336C>T (p.Arg112=) c.390C>T (p.Arg130=) | COSMIC |
19 | g.49016152G>C | CA508277258 | LHB | c.342C>G (p.Arg114=) n.433C>G c.336C>G (p.Arg112=) c.390C>G (p.Arg130=) | |
19 | g.49016152G>T | CA508277259 | LHB | c.342C>A (p.Arg114=) n.433C>A c.336C>A (p.Arg112=) c.390C>A (p.Arg130=) | |
19 | g.49016153C>A | CA406777197 | LHB | c.341G>T (p.Arg114Leu) n.432G>T c.335G>T (p.Arg112Leu) c.389G>T (p.Arg130Leu) | |
19 | g.49016153C= | CA2340186797 | LHB | c.341G= (p.Arg114=) n.432G= c.335G= (p.Arg112=) c.389G= (p.Arg130=) | |
19 | g.49016153C>G | CA406777194 | LHB | c.341G>C (p.Arg114Pro) n.432G>C c.335G>C (p.Arg112Pro) c.389G>C (p.Arg130Pro) | |
19 | g.49016153C>T | CA9564275 | LHB | c.341G>A (p.Arg114His) n.432G>A c.335G>A (p.Arg112His) c.389G>A (p.Arg130His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49016154G>A | CA9564276 | LHB | c.340C>T (p.Arg114Cys) n.431C>T c.334C>T (p.Arg112Cys) c.388C>T (p.Arg130Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016154G>C | CA406777199 | LHB | c.340C>G (p.Arg114Gly) n.431C>G c.334C>G (p.Arg112Gly) c.388C>G (p.Arg130Gly) | |
19 | g.49016154G= | CA2340186799 | LHB | c.340C= (p.Arg114=) n.431C= c.334C= (p.Arg112=) c.388C= (p.Arg130=) | |
19 | g.49016154G>T | CA406777201 | LHB | c.340C>A (p.Arg114Ser) n.431C>A c.334C>A (p.Arg112Ser) c.388C>A (p.Arg130Ser) | dbSNP gnomAD v4 |
19 | g.49016155G>A | CA9564277 | LHB | c.339C>T (p.Cys113=) n.430C>T c.333C>T (p.Cys111=) c.387C>T (p.Cys129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016155G>C | CA406777204 | LHB | c.339C>G (p.Cys113Trp) n.430C>G c.333C>G (p.Cys111Trp) c.387C>G (p.Cys129Trp) | |
19 | g.49016155G= | CA2340186804 | LHB | c.339C= (p.Cys113=) n.430C= c.333C= (p.Cys111=) c.387C= (p.Cys129=) | |
19 | g.49016155G>T | CA406777203 | LHB | c.339C>A (p.Cys113Ter) n.430C>A c.333C>A (p.Cys111Ter) c.387C>A (p.Cys129Ter) | |
19 | g.49016155_49016170delinsGCAGGGTCCACAGCGA | CA2340186807 | LHB | c.324_339delinsTCGCTGTGGACCCTGC (p.Cys108=) n.415_430delinsTCGCTGTGGACCCTGC c.318_333delinsTCGCTGTGGACCCTGC (p.Cys106=) c.372_387delinsTCGCTGTGGACCCTGC (p.Cys124=) | |
19 | g.49016156C>A | CA406777206 | LHB | c.338G>T (p.Cys113Phe) n.429G>T c.332G>T (p.Cys111Phe) c.386G>T (p.Cys129Phe) | |
19 | g.49016156C= | CA2340186810 | LHB | c.338G= (p.Cys113=) n.429G= c.332G= (p.Cys111=) c.386G= (p.Cys129=) | |
19 | g.49016156C>G | CA406777209 | LHB | c.338G>C (p.Cys113Ser) n.429G>C c.332G>C (p.Cys111Ser) c.386G>C (p.Cys129Ser) | |
19 | g.49016156C>T | CA406777210 | LHB | c.338G>A (p.Cys113Tyr) n.429G>A c.332G>A (p.Cys111Tyr) c.386G>A (p.Cys129Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016159_49016173del | CA2340186809 | LHB | c.324_338del (p.Arg109_Cys113del) n.415_429del c.318_332del (p.Arg107_Cys111del) c.372_386del (p.Arg125_Cys129del) | dbSNP |
19 | g.49016157A>C | CA406777211 | LHB | c.337T>G (p.Cys113Gly) n.428T>G c.331T>G (p.Cys111Gly) c.385T>G (p.Cys129Gly) | |
19 | g.49016157A>G | CA406777212 | LHB | c.337T>C (p.Cys113Arg) n.428T>C c.331T>C (p.Cys111Arg) c.385T>C (p.Cys129Arg) | |
19 | g.49016157A>T | CA406777213 | LHB | c.337T>A (p.Cys113Ser) n.428T>A c.331T>A (p.Cys111Ser) c.385T>A (p.Cys129Ser) | |
19 | g.49016157_49016161delinsAGGGT | CA2340186813 | LHB | c.333_337delinsACCCT (p.Gly111=) n.424_428delinsACCCT c.327_331delinsACCCT (p.Gly109=) c.381_385delinsACCCT (p.Gly127=) | |
19 | g.49016158G>A | CA508277260 | LHB | c.336C>T (p.Pro112=) n.427C>T c.330C>T (p.Pro110=) c.384C>T (p.Pro128=) | |
19 | g.49016158G>C | CA508277261 | LHB | c.336C>G (p.Pro112=) n.427C>G c.330C>G (p.Pro110=) c.384C>G (p.Pro128=) | |
19 | g.49016158G>T | CA508277262 | LHB | c.336C>A (p.Pro112=) n.427C>A c.330C>A (p.Pro110=) c.384C>A (p.Pro128=) | |
19 | g.49016158_49016161del | CA996652676 | LHB | c.333_336del (p.Pro112AlafsTer16) n.424_427del c.327_330del (p.Pro110AlafsTer16) c.381_384del (p.Pro128AlafsTer16) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016159G>A | CA9564278 | LHB | c.335C>T (p.Pro112Leu) n.426C>T c.329C>T (p.Pro110Leu) c.383C>T (p.Pro128Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016159G>C | CA406777217 | LHB | c.335C>G (p.Pro112Arg) n.426C>G c.329C>G (p.Pro110Arg) c.383C>G (p.Pro128Arg) | |
19 | g.49016159G= | CA2340186815 | LHB | c.335C= (p.Pro112=) n.426C= c.329C= (p.Pro110=) c.383C= (p.Pro128=) | |
19 | g.49016159G>T | CA406777216 | LHB | c.335C>A (p.Pro112His) n.426C>A c.329C>A (p.Pro110His) c.383C>A (p.Pro128His) | |
19 | g.49016160G>A | CA9564279 | LHB | c.334C>T (p.Pro112Ser) n.425C>T c.328C>T (p.Pro110Ser) c.382C>T (p.Pro128Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016160G>C | CA406777218 | LHB | c.334C>G (p.Pro112Ala) n.425C>G c.328C>G (p.Pro110Ala) c.382C>G (p.Pro128Ala) | |
19 | g.49016160G= | CA2340186817 | LHB | c.334C= (p.Pro112=) n.425C= c.328C= (p.Pro110=) c.382C= (p.Pro128=) | |
19 | g.49016160G>T | CA406777220 | LHB | c.334C>A (p.Pro112Thr) n.425C>A c.328C>A (p.Pro110Thr) c.382C>A (p.Pro128Thr) | |
19 | g.49016161T>A | CA508277263 | LHB | c.333A>T (p.Gly111=) n.424A>T c.327A>T (p.Gly109=) c.381A>T (p.Gly127=) | gnomAD v4 |
19 | g.49016161T>C | CA508277265 | LHB | c.333A>G (p.Gly111=) n.424A>G c.327A>G (p.Gly109=) c.381A>G (p.Gly127=) | |
19 | g.49016161T>G | CA508277264 | LHB | c.333A>C (p.Gly111=) n.424A>C c.327A>C (p.Gly109=) c.381A>C (p.Gly127=) | dbSNP |
19 | g.49016161T= | CA2340186820 | LHB | c.333A= (p.Gly111=) n.424A= c.327A= (p.Gly109=) c.381A= (p.Gly127=) | |
19 | g.49016162C>A | CA406777222 | LHB | c.332G>T (p.Gly111Val) n.423G>T c.326G>T (p.Gly109Val) c.380G>T (p.Gly127Val) | |
19 | g.49016162C= | CA2340186824 | LHB | c.332G= (p.Gly111=) n.423G= c.326G= (p.Gly109=) c.380G= (p.Gly127=) | |
19 | g.49016162C>G | CA9564280 | LHB | c.332G>C (p.Gly111Ala) n.423G>C c.326G>C (p.Gly109Ala) c.380G>C (p.Gly127Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016162C>T | CA406777224 | LHB | c.332G>A (p.Gly111Glu) n.423G>A c.326G>A (p.Gly109Glu) c.380G>A (p.Gly127Glu) | |
19 | g.49016162_49016173delinsCCACAGCGACAG | CA2340186825 | LHB | c.321_332delinsCTGTCGCTGTGG (p.Ser107=) n.412_423delinsCTGTCGCTGTGG c.315_326delinsCTGTCGCTGTGG (p.Ser105=) c.369_380delinsCTGTCGCTGTGG (p.Ser123=) | |
19 | g.49016163C>A | CA406777226 | LHB | c.331G>T (p.Gly111Ter) n.422G>T c.325G>T (p.Gly109Ter) c.379G>T (p.Gly127Ter) | |
19 | g.49016163C>G | CA406777227 | LHB | c.331G>C (p.Gly111Arg) n.422G>C c.325G>C (p.Gly109Arg) c.379G>C (p.Gly127Arg) | |
19 | g.49016163C>T | CA406777229 | LHB | c.331G>A (p.Gly111Arg) n.422G>A c.325G>A (p.Gly109Arg) c.379G>A (p.Gly127Arg) | |
19 | g.49016164_49016174del | CA996652692 | LHB | c.321_331del (p.Ser107ArgfsTer9) n.412_422del c.315_325del (p.Ser105ArgfsTer9) c.369_379del (p.Ser123ArgfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016164A>C | CA406777231 | LHB | c.330T>G (p.Cys110Trp) n.421T>G c.324T>G (p.Cys108Trp) c.378T>G (p.Cys126Trp) | |
19 | g.49016164A>G | CA508277266 | LHB | c.330T>C (p.Cys110=) n.421T>C c.324T>C (p.Cys108=) c.378T>C (p.Cys126=) | |
19 | g.49016164A>T | CA406777232 | LHB | c.330T>A (p.Cys110Ter) n.421T>A c.324T>A (p.Cys108Ter) c.378T>A (p.Cys126Ter) | |
19 | g.49016165C>A | CA406777236 | LHB | c.329G>T (p.Cys110Phe) n.420G>T c.323G>T (p.Cys108Phe) c.377G>T (p.Cys126Phe) | |
19 | g.49016165C>G | CA406777238 | LHB | c.329G>C (p.Cys110Ser) n.420G>C c.323G>C (p.Cys108Ser) c.377G>C (p.Cys126Ser) | |
19 | g.49016165C>T | CA406777234 | LHB | c.329G>A (p.Cys110Tyr) n.420G>A c.323G>A (p.Cys108Tyr) c.377G>A (p.Cys126Tyr) | |
19 | g.49016166A>C | CA406777239 | LHB | c.328T>G (p.Cys110Gly) n.419T>G c.322T>G (p.Cys108Gly) c.376T>G (p.Cys126Gly) | |
19 | g.49016166A>G | CA406777240 | LHB | c.328T>C (p.Cys110Arg) n.419T>C c.322T>C (p.Cys108Arg) c.376T>C (p.Cys126Arg) | |
19 | g.49016166A>T | CA406777242 | LHB | c.328T>A (p.Cys110Ser) n.419T>A c.322T>A (p.Cys108Ser) c.376T>A (p.Cys126Ser) | |
19 | g.49016167G>A | CA508277267 | LHB | c.327C>T (p.Arg109=) n.418C>T c.321C>T (p.Arg107=) c.375C>T (p.Arg125=) | |
19 | g.49016167G>C | CA508277268 | LHB | c.327C>G (p.Arg109=) n.418C>G c.321C>G (p.Arg107=) c.375C>G (p.Arg125=) | |
19 | g.49016167G= | CA2340186829 | LHB | c.327C= (p.Arg109=) n.418C= c.321C= (p.Arg107=) c.375C= (p.Arg125=) | |
19 | g.49016167G>T | CA9564281 | LHB | c.327C>A (p.Arg109=) n.418C>A c.321C>A (p.Arg107=) c.375C>A (p.Arg125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016168C>A | CA406777245 | LHB | c.326G>T (p.Arg109Leu) n.417G>T c.320G>T (p.Arg107Leu) c.374G>T (p.Arg125Leu) | |
19 | g.49016168C= | CA2340186832 | LHB | c.326G= (p.Arg109=) n.417G= c.320G= (p.Arg107=) c.374G= (p.Arg125=) | |
19 | g.49016168C>G | CA406777246 | LHB | c.326G>C (p.Arg109Pro) n.417G>C c.320G>C (p.Arg107Pro) c.374G>C (p.Arg125Pro) | |
19 | g.49016168C>T | CA9564282 | LHB | c.326G>A (p.Arg109His) n.417G>A c.320G>A (p.Arg107His) c.374G>A (p.Arg125His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016169G>A | CA406777249 | LHB | c.325C>T (p.Arg109Cys) n.416C>T c.319C>T (p.Arg107Cys) c.373C>T (p.Arg125Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016169G>C | CA406777252 | LHB | c.325C>G (p.Arg109Gly) n.416C>G c.319C>G (p.Arg107Gly) c.373C>G (p.Arg125Gly) | |
19 | g.49016169G= | CA2340186836 | LHB | c.325C= (p.Arg109=) n.416C= c.319C= (p.Arg107=) c.373C= (p.Arg125=) | |
19 | g.49016169G>T | CA406777251 | LHB | c.325C>A (p.Arg109Ser) n.416C>A c.319C>A (p.Arg107Ser) c.373C>A (p.Arg125Ser) | |
19 | g.49016170A>C | CA406777254 | LHB | c.324T>G (p.Cys108Trp) n.415T>G c.318T>G (p.Cys106Trp) c.372T>G (p.Cys124Trp) | |
19 | g.49016170A>G | CA508277269 | LHB | c.324T>C (p.Cys108=) n.415T>C c.318T>C (p.Cys106=) c.372T>C (p.Cys124=) | |
19 | g.49016170A>T | CA406777255 | LHB | c.324T>A (p.Cys108Ter) n.415T>A c.318T>A (p.Cys106Ter) c.372T>A (p.Cys124Ter) | |
19 | g.49016171C>A | CA406777257 | LHB | c.323G>T (p.Cys108Phe) n.414G>T c.317G>T (p.Cys106Phe) c.371G>T (p.Cys124Phe) | |
19 | g.49016171C>G | CA406777258 | LHB | c.323G>C (p.Cys108Ser) n.414G>C c.317G>C (p.Cys106Ser) c.371G>C (p.Cys124Ser) | |
19 | g.49016171C>T | CA406777260 | LHB | c.323G>A (p.Cys108Tyr) n.414G>A c.317G>A (p.Cys106Tyr) c.371G>A (p.Cys124Tyr) | gnomAD v4 |
19 | g.49016172A>C | CA406777261 | LHB | c.322T>G (p.Cys108Gly) n.413T>G c.316T>G (p.Cys106Gly) c.370T>G (p.Cys124Gly) | |
19 | g.49016172A>G | CA406777264 | LHB | c.322T>C (p.Cys108Arg) n.413T>C c.316T>C (p.Cys106Arg) c.370T>C (p.Cys124Arg) | |
19 | g.49016172A>T | CA406777262 | LHB | c.322T>A (p.Cys108Ser) n.413T>A c.316T>A (p.Cys106Ser) c.370T>A (p.Cys124Ser) | |
19 | g.49016173G>A | CA508277270 | LHB | c.321C>T (p.Ser107=) n.412C>T c.315C>T (p.Ser105=) c.369C>T (p.Ser123=) | |
19 | g.49016173G>C | CA406777266 | LHB | c.321C>G (p.Ser107Arg) n.412C>G c.315C>G (p.Ser105Arg) c.369C>G (p.Ser123Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016173G= | CA2340186838 | LHB | c.321C= (p.Ser107=) n.412C= c.315C= (p.Ser105=) c.369C= (p.Ser123=) | |
19 | g.49016173G>T | CA406777267 | LHB | c.321C>A (p.Ser107Arg) n.412C>A c.315C>A (p.Ser105Arg) c.369C>A (p.Ser123Arg) | |
19 | g.49016174C>A | CA406777269 | LHB | c.320G>T (p.Ser107Ile) n.411G>T c.314G>T (p.Ser105Ile) c.368G>T (p.Ser123Ile) | |
19 | g.49016174C>G | CA406777270 | LHB | c.320G>C (p.Ser107Thr) n.411G>C c.314G>C (p.Ser105Thr) c.368G>C (p.Ser123Thr) | |
19 | g.49016174C>T | CA406777273 | LHB | c.320G>A (p.Ser107Asn) n.411G>A c.314G>A (p.Ser105Asn) c.368G>A (p.Ser123Asn) | |
19 | g.49016175T>A | CA406777275 | LHB | c.319A>T (p.Ser107Cys) n.410A>T c.313A>T (p.Ser105Cys) c.367A>T (p.Ser123Cys) | |
19 | g.49016175T>C | CA406777276 | LHB | c.319A>G (p.Ser107Gly) n.410A>G c.313A>G (p.Ser105Gly) c.367A>G (p.Ser123Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.49016175T>G | CA9564283 | LHB | c.319A>C (p.Ser107Arg) n.410A>C c.313A>C (p.Ser105Arg) c.367A>C (p.Ser123Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016175T= | CA2340186843 | LHB | c.319A= (p.Ser107=) n.410A= c.313A= (p.Ser105=) c.367A= (p.Ser123=) | |
19 | g.49016176G>A | CA9564284 | LHB | c.318C>T (p.Leu106=) n.409C>T c.312C>T (p.Leu104=) c.366C>T (p.Leu122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016176G>C | CA508277271 | LHB | c.318C>G (p.Leu106=) n.409C>G c.312C>G (p.Leu104=) c.366C>G (p.Leu122=) | gnomAD v4 |
19 | g.49016176G= | CA2340186845 | LHB | c.318C= (p.Leu106=) n.409C= c.312C= (p.Leu104=) c.366C= (p.Leu122=) | |
19 | g.49016176G>T | CA508277272 | LHB | c.318C>A (p.Leu106=) n.409C>A c.312C>A (p.Leu104=) c.366C>A (p.Leu122=) | |
19 | g.49016177A>C | CA406777280 | LHB | c.317T>G (p.Leu106Arg) n.408T>G c.311T>G (p.Leu104Arg) c.365T>G (p.Leu122Arg) | |
19 | g.49016177A>G | CA406777282 | LHB | c.317T>C (p.Leu106Pro) n.408T>C c.311T>C (p.Leu104Pro) c.365T>C (p.Leu122Pro) | |
19 | g.49016177A>T | CA406777283 | LHB | c.317T>A (p.Leu106His) n.408T>A c.311T>A (p.Leu104His) c.365T>A (p.Leu122His) | |
19 | g.49016178G>A | CA406777289 | LHB | c.316C>T (p.Leu106Phe) n.407C>T c.310C>T (p.Leu104Phe) c.364C>T (p.Leu122Phe) | COSMIC |
19 | g.49016178G>C | CA406777287 | LHB | c.316C>G (p.Leu106Val) n.407C>G c.310C>G (p.Leu104Val) c.364C>G (p.Leu122Val) | gnomAD v4 |
19 | g.49016178G>T | CA406777285 | LHB | c.316C>A (p.Leu106Ile) n.407C>A c.310C>A (p.Leu104Ile) c.364C>A (p.Leu122Ile) | |
19 | g.49016179A>C | CA508277273 | LHB | c.315T>G (p.Ala105=) n.406T>G c.309T>G (p.Ala103=) c.363T>G (p.Ala121=) | |
19 | g.49016179A>G | CA508277274 | LHB | c.315T>C (p.Ala105=) n.406T>C c.309T>C (p.Ala103=) c.363T>C (p.Ala121=) | dbSNP |
19 | g.49016179A>T | CA508277275 | LHB | c.315T>A (p.Ala105=) n.406T>A c.309T>A (p.Ala103=) c.363T>A (p.Ala121=) | |
19 | g.49016180G>A | CA406777291 | LHB | c.314C>T (p.Ala105Val) n.405C>T c.308C>T (p.Ala103Val) c.362C>T (p.Ala121Val) | |
19 | g.49016180G>C | CA406777294 | LHB | c.314C>G (p.Ala105Gly) n.405C>G c.308C>G (p.Ala103Gly) c.362C>G (p.Ala121Gly) | |
19 | g.49016180G>T | CA406777293 | LHB | c.314C>A (p.Ala105Asp) n.405C>A c.308C>A (p.Ala103Asp) c.362C>A (p.Ala121Asp) | |
19 | g.49016181C>A | CA406777295 | LHB | c.313G>T (p.Ala105Ser) n.404G>T c.307G>T (p.Ala103Ser) c.361G>T (p.Ala121Ser) | |
19 | g.49016181C= | CA2340186848 | LHB | c.313G= (p.Ala105=) n.404G= c.307G= (p.Ala103=) c.361G= (p.Ala121=) | |
19 | g.49016181C>G | CA9564285 | LHB | c.313G>C (p.Ala105Pro) n.404G>C c.307G>C (p.Ala103Pro) c.361G>C (p.Ala121Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016181C>T | CA406777297 | LHB | c.313G>A (p.Ala105Thr) n.404G>A c.307G>A (p.Ala103Thr) c.361G>A (p.Ala121Thr) | |
19 | g.49016182C>A | CA508277276 | LHB | c.312G>T (p.Val104=) n.403G>T c.306G>T (p.Val102=) c.360G>T (p.Val120=) | dbSNP gnomAD v4 |
19 | g.49016182C= | CA2340186851 | LHB | c.312G= (p.Val104=) n.403G= c.306G= (p.Val102=) c.360G= (p.Val120=) | |
19 | g.49016182C>G | CA508277277 | LHB | c.312G>C (p.Val104=) n.403G>C c.306G>C (p.Val102=) c.360G>C (p.Val120=) | |
19 | g.49016182C>T | CA9564286 | LHB | c.312G>A (p.Val104=) n.403G>A c.306G>A (p.Val102=) c.360G>A (p.Val120=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016184_49016185del | CA2842227295 | LHB | c.311_312del (p.Val104GlyfsTer15) n.402_403del c.305_306del (p.Val102GlyfsTer15) c.359_360del (p.Val120GlyfsTer15) | |
19 | g.49016183A= | CA2340186854 | LHB | c.311T= (p.Val104=) n.402T= c.305T= (p.Val102=) c.359T= (p.Val120=) | |
19 | g.49016183A>C | CA406777303 | LHB | c.311T>G (p.Val104Gly) n.402T>G c.305T>G (p.Val102Gly) c.359T>G (p.Val120Gly) | |
19 | g.49016183A>G | CA9564287 | LHB | c.311T>C (p.Val104Ala) n.402T>C c.305T>C (p.Val102Ala) c.359T>C (p.Val120Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016183A>T | CA406777301 | LHB | c.311T>A (p.Val104Glu) n.402T>A c.305T>A (p.Val102Glu) c.359T>A (p.Val120Glu) | |
19 | g.49016184C>A | CA406777305 | LHB | c.310G>T (p.Val104Leu) n.401G>T c.304G>T (p.Val102Leu) c.358G>T (p.Val120Leu) | |
19 | g.49016184C= | CA2340186857 | LHB | c.310G= (p.Val104=) n.401G= c.304G= (p.Val102=) c.358G= (p.Val120=) | |
19 | g.49016184C>G | CA406777306 | LHB | c.310G>C (p.Val104Leu) n.401G>C c.304G>C (p.Val102Leu) c.358G>C (p.Val120Leu) | |
19 | g.49016184C>T | CA406777307 | LHB | c.310G>A (p.Val104Met) n.401G>A c.304G>A (p.Val102Met) c.358G>A (p.Val120Met) | dbSNP gnomAD v4 |
19 | g.49016185A= | CA2340186859 | LHB | c.309T= (p.Pro103=) n.400T= c.303T= (p.Pro101=) c.357T= (p.Pro119=) | |
19 | g.49016185A>C | CA508277278 | LHB | c.309T>G (p.Pro103=) n.400T>G c.303T>G (p.Pro101=) c.357T>G (p.Pro119=) | |
19 | g.49016185A>G | CA508277279 | LHB | c.309T>C (p.Pro103=) n.400T>C c.303T>C (p.Pro101=) c.357T>C (p.Pro119=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016185A>T | CA508277280 | LHB | c.309T>A (p.Pro103=) n.400T>A c.303T>A (p.Pro101=) c.357T>A (p.Pro119=) | |
19 | g.49016185_49016186del | CA645604298 | LHB | c.308_309del (p.Pro103ArgfsTer16) n.399_400del c.302_303del (p.Pro101ArgfsTer16) c.356_357del (p.Pro119ArgfsTer16) | COSMIC |
19 | g.49016186G>A | CA406777308 | LHB | c.308C>T (p.Pro103Leu) n.399C>T c.302C>T (p.Pro101Leu) c.356C>T (p.Pro119Leu) | gnomAD v4 |
19 | g.49016186G>C | CA406777309 | LHB | c.308C>G (p.Pro103Arg) n.399C>G c.302C>G (p.Pro101Arg) c.356C>G (p.Pro119Arg) | |
19 | g.49016186G>T | CA406777310 | LHB | c.308C>A (p.Pro103His) n.399C>A c.302C>A (p.Pro101His) c.356C>A (p.Pro119His) | |
19 | g.49016187G>A | CA406777311 | LHB | c.307C>T (p.Pro103Ser) n.398C>T c.301C>T (p.Pro101Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v2 |
19 | g.49016187G>C | CA406777312 | LHB | c.307C>G (p.Pro103Ala) n.398C>G c.301C>G (p.Pro101Ala) c.355C>G (p.Pro119Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016187G= | CA2340186863 | LHB | c.307C= (p.Pro103=) n.398C= c.301C= (p.Pro101=) c.355C= (p.Pro119=) | |
19 | g.49016187G>T | CA406777313 | LHB | c.307C>A (p.Pro103Thr) n.398C>A c.301C>A (p.Pro101Thr) c.355C>A (p.Pro119Thr) | |
19 | g.49016188G>A | CA508277281 | LHB | c.306C>T (p.Phe102=) n.397C>T c.300C>T (p.Phe100=) c.354C>T (p.Phe118=) | |
19 | g.49016188G>C | CA406777315 | LHB | c.306C>G (p.Phe102Leu) n.397C>G c.300C>G (p.Phe100Leu) c.354C>G (p.Phe118Leu) | |
19 | g.49016188G>T | CA406777314 | LHB | c.306C>A (p.Phe102Leu) n.397C>A c.300C>A (p.Phe100Leu) c.354C>A (p.Phe118Leu) | gnomAD v4 |
19 | g.49016189A= | CA2340186882 | LHB | c.305T= (p.Phe102=) n.396T= c.299T= (p.Phe100=) c.353T= (p.Phe118=) | |
19 | g.49016189A>C | CA406777316 | LHB | c.305T>G (p.Phe102Cys) n.396T>G c.299T>G (p.Phe100Cys) c.353T>G (p.Phe118Cys) | |
19 | g.49016189A>G | CA406777317 | LHB | c.305T>C (p.Phe102Ser) n.396T>C c.299T>C (p.Phe100Ser) c.353T>C (p.Phe118Ser) | |
19 | g.49016189A>T | CA406777318 | LHB | c.305T>A (p.Phe102Tyr) n.396T>A c.299T>A (p.Phe100Tyr) c.353T>A (p.Phe118Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016190A>C | CA406777319 | LHB | c.304T>G (p.Phe102Val) n.395T>G c.298T>G (p.Phe100Val) c.352T>G (p.Phe118Val) | |
19 | g.49016190A>G | CA406777320 | LHB | c.304T>C (p.Phe102Leu) n.395T>C c.298T>C (p.Phe100Leu) c.352T>C (p.Phe118Leu) | |
19 | g.49016190A>T | CA406777321 | LHB | c.304T>A (p.Phe102Ile) n.395T>A c.298T>A (p.Phe100Ile) c.352T>A (p.Phe118Ile) | |
19 | g.49016191G>A | CA508277282 | LHB | c.303C>T (p.Ser101=) n.394C>T c.297C>T (p.Ser99=) c.351C>T (p.Ser117=) | dbSNP gnomAD v4 |
19 | g.49016191G>C | CA508277284 | LHB | c.303C>G (p.Ser101=) n.394C>G c.297C>G (p.Ser99=) c.351C>G (p.Ser117=) | |
19 | g.49016191G= | CA2340186884 | LHB | c.303C= (p.Ser101=) n.394C= c.297C= (p.Ser99=) c.351C= (p.Ser117=) | |
19 | g.49016191G>T | CA508277283 | LHB | c.303C>A (p.Ser101=) n.394C>A c.297C>A (p.Ser99=) c.351C>A (p.Ser117=) | |
19 | g.49016192G>A | CA406777322 | LHB | c.302C>T (p.Ser101Phe) n.393C>T c.296C>T (p.Ser99Phe) c.350C>T (p.Ser117Phe) | gnomAD v4 |
19 | g.49016192G>C | CA406777323 | LHB | c.302C>G (p.Ser101Cys) n.393C>G c.296C>G (p.Ser99Cys) c.350C>G (p.Ser117Cys) | |
19 | g.49016192G>T | CA406777324 | LHB | c.302C>A (p.Ser101Tyr) n.393C>A c.296C>A (p.Ser99Tyr) c.350C>A (p.Ser117Tyr) | |
19 | g.49016194_49016195del | CA2576875957 | LHB | c.301_302del (p.Ser101LeufsTer18) n.392_393del c.295_296del (p.Ser99LeufsTer18) c.349_350del (p.Ser117LeufsTer18) | |
19 | g.49016193A>C | CA406777325 | LHB | c.301T>G (p.Ser101Ala) n.392T>G c.295T>G (p.Ser99Ala) c.349T>G (p.Ser117Ala) | |
19 | g.49016193A>G | CA406777326 | LHB | c.301T>C (p.Ser101Pro) n.392T>C c.295T>C (p.Ser99Pro) c.349T>C (p.Ser117Pro) | |
19 | g.49016193A>T | CA406777327 | LHB | c.301T>A (p.Ser101Thr) n.392T>A c.295T>A (p.Ser99Thr) c.349T>A (p.Ser117Thr) | |
19 | g.49016194G>A | CA508277285 | LHB | c.300C>T (p.Val100=) n.391C>T c.294C>T (p.Val98=) c.348C>T (p.Val116=) | |
19 | g.49016194G>C | CA508277286 | LHB | c.300C>G (p.Val100=) n.391C>G c.294C>G (p.Val98=) c.348C>G (p.Val116=) | |
19 | g.49016194G>T | CA508277287 | LHB | c.300C>A (p.Val100=) n.391C>A c.294C>A (p.Val98=) c.348C>A (p.Val116=) | |
19 | g.49016195A>C | CA406777329 | LHB | c.299T>G (p.Val100Gly) n.390T>G c.293T>G (p.Val98Gly) c.347T>G (p.Val116Gly) | |
19 | g.49016195A>G | CA406777330 | LHB | c.299T>C (p.Val100Ala) n.390T>C c.293T>C (p.Val98Ala) c.347T>C (p.Val116Ala) | |
19 | g.49016195A>T | CA406777328 | LHB | c.299T>A (p.Val100Asp) n.390T>A c.293T>A (p.Val98Asp) c.347T>A (p.Val116Asp) | |
19 | g.49016196C>A | CA406777331 | LHB | c.298G>T (p.Val100Phe) n.389G>T c.292G>T (p.Val98Phe) c.346G>T (p.Val116Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016196C= | CA2340186887 | LHB | c.298G= (p.Val100=) n.389G= c.292G= (p.Val98=) c.346G= (p.Val116=) | |
19 | g.49016196C>G | CA406777332 | LHB | c.298G>C (p.Val100Leu) n.389G>C c.292G>C (p.Val98Leu) c.346G>C (p.Val116Leu) | |
19 | g.49016196C>T | CA406777333 | LHB | c.298G>A (p.Val100Ile) n.389G>A c.292G>A (p.Val98Ile) c.346G>A (p.Val116Ile) | |
19 | g.49016197C>A | CA508277288 | LHB | c.297G>T (p.Val99=) n.388G>T c.291G>T (p.Val97=) c.345G>T (p.Val115=) | dbSNP |
19 | g.49016197C= | CA2340186890 | LHB | c.297G= (p.Val99=) n.388G= c.291G= (p.Val97=) c.345G= (p.Val115=) | |
19 | g.49016197C>G | CA508277289 | LHB | c.297G>C (p.Val99=) n.388G>C c.291G>C (p.Val97=) c.345G>C (p.Val115=) | gnomAD v4 |
19 | g.49016197C>T | CA508277290 | LHB | c.297G>A (p.Val99=) n.388G>A c.291G>A (p.Val97=) c.345G>A (p.Val115=) | |
19 | g.49016198A>C | CA406777334 | LHB | c.296T>G (p.Val99Gly) n.387T>G c.290T>G (p.Val97Gly) c.344T>G (p.Val115Gly) | |
19 | g.49016198A>G | CA406777335 | LHB | c.296T>C (p.Val99Ala) n.387T>C c.290T>C (p.Val97Ala) c.344T>C (p.Val115Ala) | gnomAD v4 |
19 | g.49016198A>T | CA406777336 | LHB | c.296T>A (p.Val99Glu) n.387T>A c.290T>A (p.Val97Glu) c.344T>A (p.Val115Glu) | |
19 | g.49016199C>A | CA406777337 | LHB | c.295G>T (p.Val99Leu) n.386G>T c.289G>T (p.Val97Leu) c.343G>T (p.Val115Leu) | |
19 | g.49016199C= | CA2340186892 | LHB | c.295G= (p.Val99=) n.386G= c.289G= (p.Val97=) c.343G= (p.Val115=) | |
19 | g.49016199C>G | CA406777338 | LHB | c.295G>C (p.Val99Leu) n.386G>C c.289G>C (p.Val97Leu) c.343G>C (p.Val115Leu) | gnomAD v4 |
19 | g.49016199C>T | CA9564288 | LHB | c.295G>A (p.Val99Met) n.386G>A c.289G>A (p.Val97Met) c.343G>A (p.Val115Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016200G>A | CA309398795 | LHB | c.294C>T (p.Pro98=) n.385C>T c.288C>T (p.Pro96=) c.342C>T (p.Pro114=) | dbSNP gnomAD v4 |
19 | g.49016200G>C | CA508277291 | LHB | c.294C>G (p.Pro98=) n.385C>G c.288C>G (p.Pro96=) c.342C>G (p.Pro114=) | gnomAD v4 |
19 | g.49016200G= | CA2340186894 | LHB | c.294C= (p.Pro98=) n.385C= c.288C= (p.Pro96=) c.342C= (p.Pro114=) | |
19 | g.49016200G>T | CA508277292 | LHB | c.294C>A (p.Pro98=) n.385C>A c.288C>A (p.Pro96=) c.342C>A (p.Pro114=) | COSMIC |
19 | g.49016203del | CA2814675279 | LHB | c.294del (p.Val99TrpfsTer?) n.385del c.288del (p.Val97TrpfsTer?) c.342del (p.Val115TrpfsTer?) | |
19 | g.49016201G>A | CA406777339 | LHB | c.293C>T (p.Pro98Leu) n.384C>T c.287C>T (p.Pro96Leu) c.341C>T (p.Pro114Leu) | |
19 | g.49016201G>C | CA406777340 | LHB | c.293C>G (p.Pro98Arg) n.384C>G c.287C>G (p.Pro96Arg) c.341C>G (p.Pro114Arg) | |
19 | g.49016201G= | CA2340186896 | LHB | c.293C= (p.Pro98=) n.384C= c.287C= (p.Pro96=) c.341C= (p.Pro114=) | |
19 | g.49016201G>T | CA9564289 | LHB | c.293C>A (p.Pro98His) n.384C>A c.287C>A (p.Pro96His) c.341C>A (p.Pro114His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016201_49016209dup | CA2340186895 | LHB | c.285_293dup (p.Pro98_Val99insValAspPro) n.376_384dup c.279_287dup (p.Pro96_Val97insValAspPro) c.333_341dup (p.Pro114_Val115insValAspPro) | dbSNP |
19 | g.49016202G>A | CA406777341 | LHB | c.292C>T (p.Pro98Ser) n.383C>T c.286C>T (p.Pro96Ser) c.340C>T (p.Pro114Ser) | gnomAD v4 |
19 | g.49016202G>C | CA406777343 | LHB | c.292C>G (p.Pro98Ala) n.383C>G c.286C>G (p.Pro96Ala) c.340C>G (p.Pro114Ala) | |
19 | g.49016202G>T | CA406777342 | LHB | c.292C>A (p.Pro98Thr) n.383C>A c.286C>A (p.Pro96Thr) c.340C>A (p.Pro114Thr) | |
19 | g.49016203G>A | CA508277293 | LHB | c.291C>T (p.Asp97=) n.382C>T c.285C>T (p.Asp95=) c.339C>T (p.Asp113=) | |
19 | g.49016203G>C | CA406777344 | LHB | c.291C>G (p.Asp97Glu) n.382C>G c.285C>G (p.Asp95Glu) c.339C>G (p.Asp113Glu) | |
19 | g.49016203G>T | CA406777345 | LHB | c.291C>A (p.Asp97Glu) n.382C>A c.285C>A (p.Asp95Glu) c.339C>A (p.Asp113Glu) | |
19 | g.49016204T>A | CA406777346 | LHB | c.290A>T (p.Asp97Val) n.381A>T c.284A>T (p.Asp95Val) c.338A>T (p.Asp113Val) | |
19 | g.49016204T>C | CA406777347 | LHB | c.290A>G (p.Asp97Gly) n.381A>G c.284A>G (p.Asp95Gly) c.338A>G (p.Asp113Gly) | |
19 | g.49016204T>G | CA406777348 | LHB | c.290A>C (p.Asp97Ala) n.381A>C c.284A>C (p.Asp95Ala) c.338A>C (p.Asp113Ala) | |
19 | g.49016205C>A | CA406777349 | LHB | c.289G>T (p.Asp97Tyr) n.380G>T c.283G>T (p.Asp95Tyr) c.337G>T (p.Asp113Tyr) | |
19 | g.49016205C= | CA2340186897 | LHB | c.289G= (p.Asp97=) n.380G= c.283G= (p.Asp95=) c.337G= (p.Asp113=) | |
19 | g.49016205C>G | CA406777350 | LHB | c.289G>C (p.Asp97His) n.380G>C c.283G>C (p.Asp95His) c.337G>C (p.Asp113His) | |
19 | g.49016205C>T | CA9564290 | LHB | c.289G>A (p.Asp97Asn) n.380G>A c.283G>A (p.Asp95Asn) c.337G>A (p.Asp113Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016206C>A | CA508277294 | LHB | c.288G>T (p.Val96=) n.379G>T c.282G>T (p.Val94=) c.336G>T (p.Val112=) | gnomAD v4 |
19 | g.49016206C>G | CA508277295 | LHB | c.288G>C (p.Val96=) n.379G>C c.282G>C (p.Val94=) c.336G>C (p.Val112=) | |
19 | g.49016206C>T | CA508277296 | LHB | c.288G>A (p.Val96=) n.379G>A c.282G>A (p.Val94=) c.336G>A (p.Val112=) | gnomAD v4 |
19 | g.49016207del | CA2842227296 | LHB | c.287del (p.Val96GlyfsTer?) n.378del c.281del (p.Val94GlyfsTer?) c.335del (p.Val112GlyfsTer?) | |
19 | g.49016207A>C | CA406777351 | LHB | c.287T>G (p.Val96Gly) n.378T>G c.281T>G (p.Val94Gly) c.335T>G (p.Val112Gly) | |
19 | g.49016207A>G | CA406777352 | LHB | c.287T>C (p.Val96Ala) n.378T>C c.281T>C (p.Val94Ala) c.335T>C (p.Val112Ala) | |
19 | g.49016207A>T | CA406777353 | LHB | c.287T>A (p.Val96Glu) n.378T>A c.281T>A (p.Val94Glu) c.335T>A (p.Val112Glu) | |
19 | g.49016208C>A | CA406777355 | LHB | c.286G>T (p.Val96Leu) n.377G>T c.280G>T (p.Val94Leu) c.334G>T (p.Val112Leu) | |
19 | g.49016208C= | CA2340186898 | LHB | c.286G= (p.Val96=) n.377G= c.280G= (p.Val94=) c.334G= (p.Val112=) | |
19 | g.49016208C>G | CA406777354 | LHB | c.286G>C (p.Val96Leu) n.377G>C c.280G>C (p.Val94Leu) c.334G>C (p.Val112Leu) | |
19 | g.49016208C>T | CA9564291 | LHB | c.286G>A (p.Val96Met) n.377G>A c.280G>A (p.Val94Met) c.334G>A (p.Val112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49016208_49016209insTGGCTGCCCGCGTGGCGTGG | CA2842227297 | LHB | c.285_286insCCACGCCACGCGGGCAGCCA (p.Val96ProfsTer?) n.376_377insCCACGCCACGCGGGCAGCCA c.279_280insCCACGCCACGCGGGCAGCCA (p.Val94ProfsTer?) c.333_334insCCACGCCACGCGGGCAGCCA (p.Val112ProfsTer?) | |
19 | g.49016209A= | CA2340186899 | LHB | c.285T= (p.Gly95=) n.376T= c.279T= (p.Gly93=) c.333T= (p.Gly111=) | |
19 | g.49016209A>C | CA508277297 | LHB | c.285T>G (p.Gly95=) n.376T>G c.279T>G (p.Gly93=) c.333T>G (p.Gly111=) | |
19 | g.49016209A>G | CA9564292 | LHB | c.285T>C (p.Gly95=) n.376T>C c.279T>C (p.Gly93=) c.333T>C (p.Gly111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016209A>T | CA508277298 | LHB | c.285T>A (p.Gly95=) n.376T>A c.279T>A (p.Gly93=) c.333T>A (p.Gly111=) | |
19 | g.49016210C>A | CA406777357 | LHB | c.284G>T (p.Gly95Val) n.375G>T c.278G>T (p.Gly93Val) c.332G>T (p.Gly111Val) | gnomAD v4 |
19 | g.49016210C= | CA2340186900 | LHB | c.284G= (p.Gly95=) n.375G= c.278G= (p.Gly93=) c.332G= (p.Gly111=) | |
19 | g.49016210C>G | CA406777356 | LHB | c.284G>C (p.Gly95Ala) n.375G>C c.278G>C (p.Gly93Ala) c.332G>C (p.Gly111Ala) | |
19 | g.49016210C>T | CA9564293 | LHB | c.284G>A (p.Gly95Asp) n.375G>A c.278G>A (p.Gly93Asp) c.332G>A (p.Gly111Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016211C>A | CA406777358 | LHB | c.283G>T (p.Gly95Cys) n.374G>T c.277G>T (p.Gly93Cys) c.331G>T (p.Gly111Cys) | |
19 | g.49016211C>G | CA406777359 | LHB | c.283G>C (p.Gly95Arg) n.374G>C c.277G>C (p.Gly93Arg) c.331G>C (p.Gly111Arg) | |
19 | g.49016211C>T | CA406777360 | LHB | c.283G>A (p.Gly95Ser) n.374G>A c.277G>A (p.Gly93Ser) c.331G>A (p.Gly111Ser) | |
19 | g.49016212A= | CA2340186901 | LHB | c.282T= (p.Arg94=) n.373T= c.276T= (p.Arg92=) c.330T= (p.Arg110=) | |
19 | g.49016212A>C | CA508277301 | LHB | c.282T>G (p.Arg94=) n.373T>G c.276T>G (p.Arg92=) c.330T>G (p.Arg110=) | |
19 | g.49016212A>G | CA508277299 | LHB | c.282T>C (p.Arg94=) n.373T>C c.276T>C (p.Arg92=) c.330T>C (p.Arg110=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.49016212A>T | CA508277300 | LHB | c.282T>A (p.Arg94=) n.373T>A c.276T>A (p.Arg92=) c.330T>A (p.Arg110=) | |
19 | g.49016213C>A | CA406777361 | LHB | c.281G>T (p.Arg94Leu) n.372G>T c.275G>T (p.Arg92Leu) c.329G>T (p.Arg110Leu) | |
19 | g.49016213C= | CA2340186904 | LHB | c.281G= (p.Arg94=) n.372G= c.275G= (p.Arg92=) c.329G= (p.Arg110=) | |
19 | g.49016213C>G | CA406777362 | LHB | c.281G>C (p.Arg94Pro) n.372G>C c.275G>C (p.Arg92Pro) c.329G>C (p.Arg110Pro) | |
19 | g.49016213C>T | CA9564294 | LHB | c.281G>A (p.Arg94His) n.372G>A c.275G>A (p.Arg92His) c.329G>A (p.Arg110His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016214G>A | CA9564295 | LHB | c.280C>T (p.Arg94Cys) n.371C>T c.274C>T (p.Arg92Cys) c.328C>T (p.Arg110Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016214G>C | CA406777363 | LHB | c.280C>G (p.Arg94Gly) n.371C>G c.274C>G (p.Arg92Gly) c.328C>G (p.Arg110Gly) | dbSNP gnomAD v4 |
19 | g.49016214G= | CA2340186906 | LHB | c.280C= (p.Arg94=) n.371C= c.274C= (p.Arg92=) c.328C= (p.Arg110=) | |
19 | g.49016214G>T | CA406777364 | LHB | c.280C>A (p.Arg94Ser) n.371C>A c.274C>A (p.Arg92Ser) c.328C>A (p.Arg110Ser) | |
19 | g.49016215C>A | CA508277302 | LHB | c.279G>T (p.Pro93=) n.370G>T c.273G>T (p.Pro91=) c.327G>T (p.Pro109=) | dbSNP gnomAD v4 |
19 | g.49016215C= | CA2340186909 | LHB | c.279G= (p.Pro93=) n.370G= c.273G= (p.Pro91=) c.327G= (p.Pro109=) | |
19 | g.49016215C>G | CA9564297 | LHB | c.279G>C (p.Pro93=) n.370G>C c.273G>C (p.Pro91=) c.327G>C (p.Pro109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016215C>T | CA9564296 | LHB | c.279G>A (p.Pro93=) n.370G>A c.273G>A (p.Pro91=) c.327G>A (p.Pro109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.49016216G>A | CA9564299 | LHB | c.278C>T (p.Pro93Leu) n.369C>T c.272C>T (p.Pro91Leu) c.326C>T (p.Pro109Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016216G>C | CA9564298 | LHB | c.278C>G (p.Pro93Arg) n.369C>G c.272C>G (p.Pro91Arg) c.326C>G (p.Pro109Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016216G= | CA2340186914 | LHB | c.278C= (p.Pro93=) n.369C= c.272C= (p.Pro91=) c.326C= (p.Pro109=) | |
19 | g.49016216G>T | CA406777365 | LHB | c.278C>A (p.Pro93Gln) n.369C>A c.272C>A (p.Pro91Gln) c.326C>A (p.Pro109Gln) | |
19 | g.49016217G>A | CA9564300 | LHB | c.277C>T (p.Pro93Ser) n.368C>T c.271C>T (p.Pro91Ser) c.325C>T (p.Pro109Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016217G>C | CA406777366 | LHB | c.277C>G (p.Pro93Ala) n.368C>G c.271C>G (p.Pro91Ala) c.325C>G (p.Pro109Ala) | |
19 | g.49016217G= | CA2340186916 | LHB | c.277C= (p.Pro93=) n.368C= c.271C= (p.Pro91=) c.325C= (p.Pro109=) | |
19 | g.49016217G>T | CA406777367 | LHB | c.277C>A (p.Pro93Thr) n.368C>A c.271C>A (p.Pro91Thr) c.325C>A (p.Pro109Thr) | |
19 | g.49016218G>A | CA508277303 | LHB | c.276C>T (p.Cys92=) n.367C>T c.270C>T (p.Cys90=) c.324C>T (p.Cys108=) | |
19 | g.49016218G>C | CA406777368 | LHB | c.276C>G (p.Cys92Trp) n.367C>G c.270C>G (p.Cys90Trp) c.324C>G (p.Cys108Trp) | |
19 | g.49016218G>T | CA406777369 | LHB | c.276C>A (p.Cys92Ter) n.367C>A c.270C>A (p.Cys90Ter) c.324C>A (p.Cys108Ter) | |
19 | g.49016219C>A | CA406777370 | LHB | c.275G>T (p.Cys92Phe) n.366G>T c.269G>T (p.Cys90Phe) c.323G>T (p.Cys108Phe) | |
19 | g.49016219C>G | CA406777371 | LHB | c.275G>C (p.Cys92Ser) n.366G>C c.269G>C (p.Cys90Ser) c.323G>C (p.Cys108Ser) | |
19 | g.49016219C>T | CA406777372 | LHB | c.275G>A (p.Cys92Tyr) n.366G>A c.269G>A (p.Cys90Tyr) c.323G>A (p.Cys108Tyr) | |
19 | g.49016220A>C | CA406777373 | LHB | c.274T>G (p.Cys92Gly) n.365T>G c.268T>G (p.Cys90Gly) c.322T>G (p.Cys108Gly) | |
19 | g.49016220A>G | CA406777374 | LHB | c.274T>C (p.Cys92Arg) n.365T>C c.268T>C (p.Cys90Arg) c.322T>C (p.Cys108Arg) | gnomAD v4 |
19 | g.49016220A>T | CA406777375 | LHB | c.274T>A (p.Cys92Ser) n.365T>A c.268T>A (p.Cys90Ser) c.322T>A (p.Cys108Ser) | |
19 | g.49016221G>A | CA508277304 | LHB | c.273C>T (p.Gly91=) n.364C>T c.267C>T (p.Gly89=) c.321C>T (p.Gly107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.49016221G>C | CA508277305 | LHB | c.273C>G (p.Gly91=) n.364C>G c.267C>G (p.Gly89=) c.321C>G (p.Gly107=) | |
19 | g.49016221G= | CA2340186918 | LHB | c.273C= (p.Gly91=) n.364C= c.267C= (p.Gly89=) c.321C= (p.Gly107=) | |
19 | g.49016221G>T | CA508277306 | LHB | c.273C>A (p.Gly91=) n.364C>A c.267C>A (p.Gly89=) c.321C>A (p.Gly107=) | |
19 | g.49016222C>A | CA406777377 | LHB | c.272G>T (p.Gly91Val) n.363G>T c.266G>T (p.Gly89Val) c.320G>T (p.Gly107Val) | |
19 | g.49016222C= | CA2340186921 | LHB | c.272G= (p.Gly91=) n.363G= c.266G= (p.Gly89=) c.320G= (p.Gly107=) | |
19 | g.49016222C>G | CA9564301 | LHB | c.272G>C (p.Gly91Ala) n.363G>C c.266G>C (p.Gly89Ala) c.320G>C (p.Gly107Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.49016222C>T | CA406777376 | LHB | c.272G>A (p.Gly91Asp) n.363G>A c.266G>A (p.Gly89Asp) c.320G>A (p.Gly107Asp) | gnomAD v4 |
19 | g.49016223C>A | CA406777378 | LHB | c.271G>T (p.Gly91Cys) n.362G>T c.265G>T (p.Gly89Cys) c.319G>T (p.Gly107Cys) | gnomAD v4 |
19 | g.49016223C= | CA2340186923 | LHB | c.271G= (p.Gly91=) n.362G= c.265G= (p.Gly89=) c.319G= (p.Gly107=) | |
19 | g.49016223C>G | CA406777379 | LHB | c.271G>C (p.Gly91Arg) n.362G>C c.265G>C (p.Gly89Arg) c.319G>C (p.Gly107Arg) | |
19 | g.49016223C>T | CA406777380 | LHB | c.271G>A (p.Gly91Ser) n.362G>A c.265G>A (p.Gly89Ser) c.319G>A (p.Gly107Ser) | dbSNP |