Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43162838G>A | CA10272823 | TSPO | c.357G>A (p.Ala119=) c.45G>A (p.Ala15=) n.266G>A n.221G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.43162838G>C | CA514828356 | TSPO | c.357G>C (p.Ala119=) c.45G>C (p.Ala15=) n.266G>C n.221G>C | gnomAD v4 |
22 | g.43162838G= | CA2407104072 | TSPO | c.357G= (p.Ala119=) c.45G= (p.Ala15=) n.266G= n.221G= | |
22 | g.43162838G>T | CA514828357 | TSPO | c.357G>T (p.Ala119=) c.45G>T (p.Ala15=) n.266G>T n.221G>T | |
22 | g.43162839G>A | CA411816922 | TSPO | c.358G>A (p.Ala120Thr) c.46G>A (p.Ala16Thr) n.267G>A n.222G>A | gnomAD v4 |
22 | g.43162839G>C | CA10272824 | TSPO | c.358G>C (p.Ala120Pro) c.46G>C (p.Ala16Pro) n.267G>C n.222G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43162839G= | CA2407104073 | TSPO | c.358G= (p.Ala120=) c.46G= (p.Ala16=) n.267G= n.222G= | |
22 | g.43162839G>T | CA411816921 | TSPO | c.358G>T (p.Ala120Ser) c.46G>T (p.Ala16Ser) n.267G>T n.222G>T | gnomAD v4 |
22 | g.43162840C>A | CA411816923 | TSPO | c.359C>A (p.Ala120Glu) c.47C>A (p.Ala16Glu) n.268C>A n.223C>A | gnomAD v4 |
22 | g.43162840C= | CA2407104075 | TSPO | c.359C= (p.Ala120=) c.47C= (p.Ala16=) n.268C= n.223C= | |
22 | g.43162840C>G | CA10272825 | TSPO | c.359C>G (p.Ala120Gly) c.47C>G (p.Ala16Gly) n.268C>G n.223C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43162840C>T | CA411816924 | TSPO | c.359C>T (p.Ala120Val) c.47C>T (p.Ala16Val) n.268C>T n.223C>T | gnomAD v4 |
22 | g.43162840_43162841delinsCA | CA2407104074 | TSPO | c.359_360delinsCA (p.Ala120=) c.47_48delinsCA (p.Ala16=) n.268_269delinsCA n.223_224delinsCA | |
22 | g.43162841del | CA753375167 | TSPO | c.360del (p.Ala121ProfsTer9) c.48del (p.Ala17ProfsTer9) n.269del n.224del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43162841A= | CA2407104076 | TSPO | c.360A= (p.Ala120=) c.48A= (p.Ala16=) n.269A= n.224A= | |
22 | g.43162841A>C | CA10272826 | TSPO | c.360A>C (p.Ala120=) c.48A>C (p.Ala16=) n.269A>C n.224A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43162841A>G | CA514828358 | TSPO | c.360A>G (p.Ala120=) c.48A>G (p.Ala16=) n.269A>G n.224A>G | |
22 | g.43162841A>T | CA514828359 | TSPO | c.360A>T (p.Ala120=) c.48A>T (p.Ala16=) n.269A>T n.224A>T | |
22 | g.43162842G>A | CA411816925 | TSPO | c.361G>A (p.Ala121Thr) c.49G>A (p.Ala17Thr) n.270G>A n.225G>A | gnomAD v4 |
22 | g.43162842G>C | CA411816926 | TSPO | c.361G>C (p.Ala121Pro) c.49G>C (p.Ala17Pro) n.270G>C n.225G>C | |
22 | g.43162842G>T | CA411816927 | TSPO | c.361G>T (p.Ala121Ser) c.49G>T (p.Ala17Ser) n.270G>T n.225G>T | gnomAD v4 |
22 | g.43162843C>A | CA411816928 | TSPO | c.362C>A (p.Ala121Asp) c.50C>A (p.Ala17Asp) n.271C>A n.226C>A | gnomAD v4 |
22 | g.43162843C= | CA2407104077 | TSPO | c.362C= (p.Ala121=) c.50C= (p.Ala17=) n.271C= n.226C= | |
22 | g.43162843C>G | CA411816929 | TSPO | c.362C>G (p.Ala121Gly) c.50C>G (p.Ala17Gly) n.271C>G n.226C>G | |
22 | g.43162843C>T | CA411816930 | TSPO | c.362C>T (p.Ala121Val) c.50C>T (p.Ala17Val) n.271C>T n.226C>T | gnomAD v4 |
22 | g.43162844C>A | CA514828360 | TSPO | c.363C>A (p.Ala121=) c.51C>A (p.Ala17=) n.272C>A n.227C>A | |
22 | g.43162844C>G | CA514828361 | TSPO | c.363C>G (p.Ala121=) c.51C>G (p.Ala17=) n.272C>G n.227C>G | |
22 | g.43162844C>T | CA514828362 | TSPO | c.363C>T (p.Ala121=) c.51C>T (p.Ala17=) n.272C>T n.227C>T | |
22 | g.43162845_43162849dup | CA639829801 | TSPO | c.364_368dup (p.Val124LeufsTer8) c.52_56dup (p.Val20LeufsTer8) n.273_277dup n.228_232dup | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43162845A>C | CA411816932 | TSPO | c.364A>C (p.Thr122Pro) c.52A>C (p.Thr18Pro) n.273A>C n.228A>C | gnomAD v4 |
22 | g.43162845A>G | CA411816933 | TSPO | c.364A>G (p.Thr122Ala) c.52A>G (p.Thr18Ala) n.273A>G n.228A>G | |
22 | g.43162845A>T | CA411816931 | TSPO | c.364A>T (p.Thr122Ser) c.52A>T (p.Thr18Ser) n.273A>T n.228A>T | |
22 | g.43162846C>A | CA411816934 | TSPO | c.365C>A (p.Thr122Asn) c.53C>A (p.Thr18Asn) n.274C>A n.229C>A | gnomAD v4 |
22 | g.43162846C>G | CA411816935 | TSPO | c.365C>G (p.Thr122Ser) c.53C>G (p.Thr18Ser) n.274C>G n.229C>G | |
22 | g.43162846C>T | CA411816936 | TSPO | c.365C>T (p.Thr122Ile) c.53C>T (p.Thr18Ile) n.274C>T n.229C>T | gnomAD v4 |
22 | g.43162847T>A | CA514828363 | TSPO | c.366T>A (p.Thr122=) c.54T>A (p.Thr18=) n.275T>A n.230T>A | |
22 | g.43162847T>C | CA514828365 | TSPO | c.366T>C (p.Thr122=) c.54T>C (p.Thr18=) n.275T>C n.230T>C | |
22 | g.43162847T>G | CA514828364 | TSPO | c.366T>G (p.Thr122=) c.54T>G (p.Thr18=) n.275T>G n.230T>G | |
22 | g.43162848A>C | CA411816937 | TSPO | c.367A>C (p.Thr123Pro) c.55A>C (p.Thr19Pro) n.276A>C n.231A>C | |
22 | g.43162848A>G | CA411816938 | TSPO | c.367A>G (p.Thr123Ala) c.55A>G (p.Thr19Ala) n.276A>G n.231A>G | |
22 | g.43162848A>T | CA411816939 | TSPO | c.367A>T (p.Thr123Ser) c.55A>T (p.Thr19Ser) n.276A>T n.231A>T | |
22 | g.43162849C>A | CA411816940 | TSPO | c.368C>A (p.Thr123Asn) c.56C>A (p.Thr19Asn) n.277C>A n.232C>A | gnomAD v4 |
22 | g.43162849C= | CA2407104078 | TSPO | c.368C= (p.Thr123=) c.56C= (p.Thr19=) n.277C= n.232C= | |
22 | g.43162849C>G | CA411816942 | TSPO | c.368C>G (p.Thr123Ser) c.56C>G (p.Thr19Ser) n.277C>G n.232C>G | gnomAD v4 |
22 | g.43162849C>T | CA411816941 | TSPO | c.368C>T (p.Thr123Ile) c.56C>T (p.Thr19Ile) n.277C>T n.232C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43162850C>A | CA514828366 | TSPO | c.369C>A (p.Thr123=) c.57C>A (p.Thr19=) n.278C>A n.233C>A | gnomAD v4 |
22 | g.43162850C= | CA2407104079 | TSPO | c.369C= (p.Thr123=) c.57C= (p.Thr19=) n.278C= n.233C= | |
22 | g.43162850C>G | CA514828367 | TSPO | c.369C>G (p.Thr123=) c.57C>G (p.Thr19=) n.278C>G n.233C>G | |
22 | g.43162850C>T | CA10272827 | TSPO | c.369C>T (p.Thr123=) c.57C>T (p.Thr19=) n.278C>T n.233C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43162851G>A | CA10272828 | TSPO | c.370G>A (p.Val124Met) c.58G>A (p.Val20Met) n.279G>A n.234G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |