Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43162924_43162926delinsCCA | CA2407104115 | TSPO | c.443_445delinsCCA (p.Thr148=) c.131_133delinsCCA (p.Thr44=) n.352_354delinsCCA n.307_309delinsCCA | |
22 | g.43162925C>A | CA514828414 | TSPO | c.444C>A (p.Thr148=) c.132C>A (p.Thr44=) n.353C>A n.308C>A | gnomAD v4 |
22 | g.43162925C= | CA2407104116 | TSPO | c.444C= (p.Thr148=) c.132C= (p.Thr44=) n.353C= n.308C= | |
22 | g.43162925C>G | CA514828415 | TSPO | c.444C>G (p.Thr148=) c.132C>G (p.Thr44=) n.353C>G n.308C>G | |
22 | g.43162925C>T | CA10272850 | TSPO | c.444C>T (p.Thr148=) c.132C>T (p.Thr44=) n.353C>T n.308C>T | dbSNP ExAC gnomAD v4 |
22 | g.43162928_43162929del | CA1026020955 | TSPO | c.447_448del (p.Leu150GlnfsTer?) c.135_136del (p.Leu46GlnfsTer?) n.356_357del n.311_312del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43162926A>C | CA411817096 | TSPO | c.445A>C (p.Thr149Pro) c.133A>C (p.Thr45Pro) n.354A>C n.309A>C | |
22 | g.43162926A>G | CA411817097 | TSPO | c.445A>G (p.Thr149Ala) c.133A>G (p.Thr45Ala) n.354A>G n.309A>G | gnomAD v4 |
22 | g.43162926A>T | CA411817098 | TSPO | c.445A>T (p.Thr149Ser) c.133A>T (p.Thr45Ser) n.354A>T n.309A>T | |
22 | g.43162927C>A | CA411817099 | TSPO | c.446C>A (p.Thr149Lys) c.134C>A (p.Thr45Lys) n.355C>A n.310C>A | gnomAD v4 |
22 | g.43162927C= | CA2407104117 | TSPO | c.446C= (p.Thr149=) c.134C= (p.Thr45=) n.355C= n.310C= | |
22 | g.43162927C>G | CA411817100 | TSPO | c.446C>G (p.Thr149Arg) c.134C>G (p.Thr45Arg) n.355C>G n.310C>G | gnomAD v4 |
22 | g.43162927C>T | CA411817101 | TSPO | c.446C>T (p.Thr149Ile) c.134C>T (p.Thr45Ile) n.355C>T n.310C>T | dbSNP gnomAD v4 |
22 | g.43162928A= | CA2407104118 | TSPO | c.447A= (p.Thr149=) c.135A= (p.Thr45=) n.356A= n.311A= | |
22 | g.43162928A>C | CA514828416 | TSPO | c.447A>C (p.Thr149=) c.135A>C (p.Thr45=) n.356A>C n.311A>C | gnomAD v4 |
22 | g.43162928A>G | CA514828417 | TSPO | c.447A>G (p.Thr149=) c.135A>G (p.Thr45=) n.356A>G n.311A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43162928A>T | CA514828418 | TSPO | c.447A>T (p.Thr149=) c.135A>T (p.Thr45=) n.356A>T n.311A>T | |
22 | g.43162929C>A | CA411817102 | TSPO | c.448C>A (p.Leu150Ile) c.136C>A (p.Leu46Ile) n.357C>A n.312C>A | |
22 | g.43162929C= | CA2407104119 | TSPO | c.448C= (p.Leu150=) c.136C= (p.Leu46=) n.357C= n.312C= | |
22 | g.43162929C>G | CA411817103 | TSPO | c.448C>G (p.Leu150Val) c.136C>G (p.Leu46Val) n.357C>G n.312C>G | |
22 | g.43162929C>T | CA10272851 | TSPO | c.448C>T (p.Leu150Phe) c.136C>T (p.Leu46Phe) n.357C>T n.312C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43162930T>A | CA411817104 | TSPO | c.449T>A (p.Leu150His) c.137T>A (p.Leu46His) n.358T>A n.313T>A | dbSNP gnomAD v2 |
22 | g.43162930T>C | CA411817105 | TSPO | c.449T>C (p.Leu150Pro) c.137T>C (p.Leu46Pro) n.358T>C n.313T>C | |
22 | g.43162930T>G | CA411817106 | TSPO | c.449T>G (p.Leu150Arg) c.137T>G (p.Leu46Arg) n.358T>G n.313T>G | |
22 | g.43162930T= | CA2407104120 | TSPO | c.449T= (p.Leu150=) c.137T= (p.Leu46=) n.358T= n.313T= | |
22 | g.43162931C>A | CA514828420 | TSPO | c.450C>A (p.Leu150=) c.138C>A (p.Leu46=) n.359C>A n.314C>A | gnomAD v4 |
22 | g.43162931C= | CA2407104121 | TSPO | c.450C= (p.Leu150=) c.138C= (p.Leu46=) n.359C= n.314C= | |
22 | g.43162931C>G | CA514828419 | TSPO | c.450C>G (p.Leu150=) c.138C>G (p.Leu46=) n.359C>G n.314C>G | |
22 | g.43162931C>T | CA324775871 | TSPO | c.450C>T (p.Leu150=) c.138C>T (p.Leu46=) n.359C>T n.314C>T | dbSNP gnomAD v4 |
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 |