| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43162932A>C | CA411817107 | TSPO | c.451A>C (p.Asn151His) c.139A>C (p.Asn47His) n.360A>C n.315A>C | |
| 22 | g.43162932A>G | CA411817108 | TSPO | c.451A>G (p.Asn151Asp) c.139A>G (p.Asn47Asp) n.360A>G n.315A>G | gnomAD v4 |
| 22 | g.43162932A>T | CA411817109 | TSPO | c.451A>T (p.Asn151Tyr) c.139A>T (p.Asn47Tyr) n.360A>T n.315A>T | |
| 22 | g.43162933A>C | CA411817110 | TSPO | c.452A>C (p.Asn151Thr) c.140A>C (p.Asn47Thr) n.361A>C n.316A>C | |
| 22 | g.43162933A>G | CA411817111 | TSPO | c.452A>G (p.Asn151Ser) c.140A>G (p.Asn47Ser) n.361A>G n.316A>G | |
| 22 | g.43162933A>T | CA411817112 | TSPO | c.452A>T (p.Asn151Ile) c.140A>T (p.Asn47Ile) n.361A>T n.316A>T | |
| 22 | g.43162934C>A | CA411817113 | TSPO | c.453C>A (p.Asn151Lys) c.141C>A (p.Asn47Lys) n.362C>A n.317C>A | gnomAD v4 |
| 22 | g.43162934C>G | CA411817114 | TSPO | c.453C>G (p.Asn151Lys) c.141C>G (p.Asn47Lys) n.362C>G n.317C>G | |
| 22 | g.43162934C>T | CA514828421 | TSPO | c.453C>T (p.Asn151=) c.141C>T (p.Asn47=) n.362C>T n.317C>T | |
| 22 | g.43162935T>A | CA411817117 | TSPO | c.454T>A (p.Tyr152Asn) c.142T>A (p.Tyr48Asn) n.363T>A n.318T>A | |
| 22 | g.43162935T>C | CA411817115 | TSPO | c.454T>C (p.Tyr152His) c.142T>C (p.Tyr48His) n.363T>C n.318T>C | gnomAD v4 |
| 22 | g.43162935T>G | CA411817116 | TSPO | c.454T>G (p.Tyr152Asp) c.142T>G (p.Tyr48Asp) n.363T>G n.318T>G | |
| 22 | g.43162936A>C | CA411817118 | TSPO | c.455A>C (p.Tyr152Ser) c.143A>C (p.Tyr48Ser) n.364A>C n.319A>C | |
| 22 | g.43162936A>G | CA411817119 | TSPO | c.455A>G (p.Tyr152Cys) c.143A>G (p.Tyr48Cys) n.364A>G n.319A>G | gnomAD v4 |
| 22 | g.43162936A>T | CA411817120 | TSPO | c.455A>T (p.Tyr152Phe) c.143A>T (p.Tyr48Phe) n.364A>T n.319A>T | gnomAD v4 |
| 22 | g.43162937C>A | CA411817121 | TSPO | c.456C>A (p.Tyr152Ter) c.144C>A (p.Tyr48Ter) n.365C>A n.320C>A | gnomAD v4 |
| 22 | g.43162937C>G | CA411817122 | TSPO | c.456C>G (p.Tyr152Ter) c.144C>G (p.Tyr48Ter) n.365C>G n.320C>G | |
| 22 | g.43162937C>T | CA514828422 | TSPO | c.456C>T (p.Tyr152=) c.144C>T (p.Tyr48=) n.365C>T n.320C>T | |
| 22 | g.43162938T>A | CA411817123 | TSPO | c.457T>A (p.Cys153Ser) c.145T>A (p.Cys49Ser) n.366T>A n.321T>A | |
| 22 | g.43162938T>C | CA411817124 | TSPO | c.457T>C (p.Cys153Arg) c.145T>C (p.Cys49Arg) n.366T>C n.321T>C | |
| 22 | g.43162938T>G | CA411817125 | TSPO | c.457T>G (p.Cys153Gly) c.145T>G (p.Cys49Gly) n.366T>G n.321T>G | |
| 22 | g.43162939G>A | CA411817126 | TSPO | c.458G>A (p.Cys153Tyr) c.146G>A (p.Cys49Tyr) n.367G>A n.322G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.43162939G>C | CA411817127 | TSPO | c.458G>C (p.Cys153Ser) c.146G>C (p.Cys49Ser) n.367G>C n.322G>C | |
| 22 | g.43162939G= | CA2407104122 | TSPO | c.458G= (p.Cys153=) c.146G= (p.Cys49=) n.367G= n.322G= | |
| 22 | g.43162939G>T | CA411817128 | TSPO | c.458G>T (p.Cys153Phe) c.146G>T (p.Cys49Phe) n.367G>T n.322G>T | gnomAD v4 |
| 22 | g.43162940C>A | CA411817129 | TSPO | c.459C>A (p.Cys153Ter) c.147C>A (p.Cys49Ter) n.368C>A n.323C>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.43162940C= | CA2407104123 | TSPO | c.459C= (p.Cys153=) c.147C= (p.Cys49=) n.368C= n.323C= | |
| 22 | g.43162940C>G | CA411817130 | TSPO | c.459C>G (p.Cys153Trp) c.147C>G (p.Cys49Trp) n.368C>G n.323C>G | dbSNP gnomAD v2 |
| 22 | g.43162940C>T | CA10272852 | TSPO | c.459C>T (p.Cys153=) c.147C>T (p.Cys49=) n.368C>T n.323C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.43162941G>A | CA10272853 | TSPO | c.460G>A (p.Val154Ile) c.148G>A (p.Val50Ile) n.369G>A n.324G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.43162941G>C | CA411817132 | TSPO | c.460G>C (p.Val154Leu) c.148G>C (p.Val50Leu) n.369G>C n.324G>C | |
| 22 | g.43162941G= | CA2407104124 | TSPO | c.460G= (p.Val154=) c.148G= (p.Val50=) n.369G= n.324G= | |
| 22 | g.43162941G>T | CA411817131 | TSPO | c.460G>T (p.Val154Leu) c.148G>T (p.Val50Leu) n.369G>T n.324G>T | |
| 22 | g.43162942T>A | CA411817133 | TSPO | c.461T>A (p.Val154Glu) c.149T>A (p.Val50Glu) n.370T>A n.325T>A | |
| 22 | g.43162942T>C | CA411817134 | TSPO | c.461T>C (p.Val154Ala) c.149T>C (p.Val50Ala) n.370T>C n.325T>C | |
| 22 | g.43162942T>G | CA411817135 | TSPO | c.461T>G (p.Val154Gly) c.149T>G (p.Val50Gly) n.370T>G n.325T>G | |
| 22 | g.43162943A= | CA2407104125 | TSPO | c.462A= (p.Val154=) c.150A= (p.Val50=) n.371A= n.326A= | |
| 22 | g.43162943A>C | CA514828423 | TSPO | c.462A>C (p.Val154=) c.150A>C (p.Val50=) n.371A>C n.326A>C | |
| 22 | g.43162943A>G | CA514828424 | TSPO | c.462A>G (p.Val154=) c.150A>G (p.Val50=) n.371A>G n.326A>G | dbSNP gnomAD v4 |
| 22 | g.43162943A>T | CA514828425 | TSPO | c.462A>T (p.Val154=) c.150A>T (p.Val50=) n.371A>T n.326A>T | |
| 22 | g.43162944T>A | CA411817136 | TSPO | c.463T>A (p.Trp155Arg) c.151T>A (p.Trp51Arg) n.372T>A n.327T>A | |
| 22 | g.43162944T>C | CA411817137 | TSPO | c.463T>C (p.Trp155Arg) c.151T>C (p.Trp51Arg) n.372T>C n.327T>C | gnomAD v4 |
| 22 | g.43162944T>G | CA411817138 | TSPO | c.463T>G (p.Trp155Gly) c.151T>G (p.Trp51Gly) n.372T>G n.327T>G | |
| 22 | g.43162944_43162945delinsTG | CA2407104126 | TSPO | c.463_464delinsTG (p.Trp155=) c.151_152delinsTG (p.Trp51=) n.372_373delinsTG n.327_328delinsTG | |
| 22 | g.43162945G>A | CA411817139 | TSPO | c.464G>A (p.Trp155Ter) c.152G>A (p.Trp51Ter) n.373G>A n.328G>A | |
| 22 | g.43162945G>C | CA411817140 | TSPO | c.464G>C (p.Trp155Ser) c.152G>C (p.Trp51Ser) n.373G>C n.328G>C | |
| 22 | g.43162945G>T | CA411817141 | TSPO | c.464G>T (p.Trp155Leu) c.152G>T (p.Trp51Leu) n.373G>T n.328G>T | gnomAD v4 |
| 22 | g.43162946del | CA639829803 | TSPO | c.465del (p.Trp155CysfsTer?) c.153del (p.Trp51CysfsTer?) n.374del n.329del | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.43162946G>A | CA324775900 | TSPO | c.465G>A (p.Trp155Ter) c.153G>A (p.Trp51Ter) n.374G>A n.329G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.43162946G>C | CA411817142 | TSPO | c.465G>C (p.Trp155Cys) c.153G>C (p.Trp51Cys) n.374G>C n.329G>C |