| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.43162920_43162921del | CA2988659086 | TSPO | c.439_440del (p.Thr147AspfsTer?) c.127_128del (p.Thr43AspfsTer?) n.348_349del n.303_304del | |
| 22 | g.43162920A= | CA1139772264 | TSPO | c.439A= (p.Thr147=) c.127A= (p.Thr43=) n.348A= n.303A= | |
| 22 | g.43162920A>C | CA411817086 | TSPO | c.439A>C (p.Thr147Pro) c.127A>C (p.Thr43Pro) n.348A>C n.303A>C | |
| 22 | g.43162920A>G | CA10272847 | TSPO | c.439A>G (p.Thr147Ala) c.127A>G (p.Thr43Ala) n.348A>G n.303A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.43162920A>T | CA411817087 | TSPO | c.439A>T (p.Thr147Ser) c.127A>T (p.Thr43Ser) n.348A>T n.303A>T | gnomAD v4 |
| 22 | g.43162921C>A | CA411817088 | TSPO | c.440C>A (p.Thr147Lys) c.128C>A (p.Thr43Lys) n.349C>A n.304C>A | gnomAD v4 |
| 22 | g.43162921C= | CA2407104113 | TSPO | c.440C= (p.Thr147=) c.128C= (p.Thr43=) n.349C= n.304C= | |
| 22 | g.43162921C>G | CA411817089 | TSPO | c.440C>G (p.Thr147Arg) c.128C>G (p.Thr43Arg) n.349C>G n.304C>G | |
| 22 | g.43162921C>T | CA10272848 | TSPO | c.440C>T (p.Thr147Met) c.128C>T (p.Thr43Met) n.349C>T n.304C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.43162921_43162922insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC | CA2657109559 | TSPO | c.440_441insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC (p.Thr149LeufsTer?) c.128_129insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC (p.Thr45LeufsTer?) n.349_350insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC n.304_305insCACACTCAACTACTGCGTATGGCGGGACAACCTACCTGGCCTGGCTGGCCTTCGC | gnomAD v4 |
| 22 | g.43162922G>A | CA10272849 | TSPO | c.441G>A (p.Thr147=) c.129G>A (p.Thr43=) n.350G>A n.305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.43162922G>C | CA514828413 | TSPO | c.441G>C (p.Thr147=) c.129G>C (p.Thr43=) n.350G>C n.305G>C | |
| 22 | g.43162922G= | CA2407104114 | TSPO | c.441G= (p.Thr147=) c.129G= (p.Thr43=) n.350G= n.305G= | |
| 22 | g.43162922G>T | CA514828412 | TSPO | c.441G>T (p.Thr147=) c.129G>T (p.Thr43=) n.350G>T n.305G>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.43162923A>C | CA411817090 | TSPO | c.442A>C (p.Thr148Pro) c.130A>C (p.Thr44Pro) n.351A>C n.306A>C | |
| 22 | g.43162923A>G | CA411817091 | TSPO | c.442A>G (p.Thr148Ala) c.130A>G (p.Thr44Ala) n.351A>G n.306A>G | |
| 22 | g.43162923A>T | CA411817092 | TSPO | c.442A>T (p.Thr148Ser) c.130A>T (p.Thr44Ser) n.351A>T n.306A>T | gnomAD v4 |
| 22 | g.43162924C>A | CA411817093 | TSPO | c.443C>A (p.Thr148Asn) c.131C>A (p.Thr44Asn) n.352C>A n.307C>A | gnomAD v4 |
| 22 | g.43162924C>G | CA411817094 | TSPO | c.443C>G (p.Thr148Ser) c.131C>G (p.Thr44Ser) n.352C>G n.307C>G | |
| 22 | g.43162924C>T | CA411817095 | TSPO | c.443C>T (p.Thr148Ile) c.131C>T (p.Thr44Ile) n.352C>T n.307C>T | |
| 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.43162931del | CA2988659088 | TSPO | c.450del (p.Asn151ThrfsTer?) c.138del (p.Asn47ThrfsTer?) n.359del n.314del | |
| 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 |