Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137192275G>A | CA178314 | TPRN | c.2057C>T (p.Pro686Leu) c.1451C>T (p.Pro484Leu) n.2778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137192275G>C | CA5362541 | TPRN | c.2057C>G (p.Pro686Arg) c.1451C>G (p.Pro484Arg) n.2778C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137192275G= | CA1884347490 | TPRN | c.2057C= (p.Pro686=) c.1451C= (p.Pro484=) n.2778C= | |
9 | g.137192275G>T | CA375769014 | TPRN | c.2057C>A (p.Pro686Gln) c.1451C>A (p.Pro484Gln) n.2778C>A | dbSNP |
9 | g.137192276G>A | CA375769028 | TPRN | c.2056C>T (p.Pro686Ser) c.1450C>T (p.Pro484Ser) n.2777C>T | gnomAD v4 |
9 | g.137192276G>C | CA375769044 | TPRN | c.2056C>G (p.Pro686Ala) c.1450C>G (p.Pro484Ala) n.2777C>G | |
9 | g.137192276G>T | CA375769046 | TPRN | c.2056C>A (p.Pro686Thr) c.1450C>A (p.Pro484Thr) n.2777C>A | |
9 | g.137192277G>A | CA467852200 | TPRN | c.2055C>T (p.Pro685=) c.1449C>T (p.Pro483=) n.2776C>T | COSMIC |
9 | g.137192277G>C | CA467852198 | TPRN | c.2055C>G (p.Pro685=) c.1449C>G (p.Pro483=) n.2776C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137192277G= | CA1884347491 | TPRN | c.2055C= (p.Pro685=) c.1449C= (p.Pro483=) n.2776C= | |
9 | g.137192277G>T | CA467852199 | TPRN | c.2055C>A (p.Pro685=) c.1449C>A (p.Pro483=) n.2776C>A | gnomAD v4 |
9 | g.137192278G>A | CA5362542 | TPRN | c.2054C>T (p.Pro685Leu) c.1448C>T (p.Pro483Leu) n.2775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137192278G>C | CA375769051 | TPRN | c.2054C>G (p.Pro685Arg) c.1448C>G (p.Pro483Arg) n.2775C>G | gnomAD v4 |
9 | g.137192278G= | CA1884347492 | TPRN | c.2054C= (p.Pro685=) c.1448C= (p.Pro483=) n.2775C= | |
9 | g.137192278G>T | CA375769052 | TPRN | c.2054C>A (p.Pro685His) c.1448C>A (p.Pro483His) n.2775C>A | |
9 | g.137192279G>A | CA375769062 | TPRN | c.2053C>T (p.Pro685Ser) c.1447C>T (p.Pro483Ser) n.2774C>T | |
9 | g.137192279G>C | CA375769058 | TPRN | c.2053C>G (p.Pro685Ala) c.1447C>G (p.Pro483Ala) n.2774C>G | |
9 | g.137192279G>T | CA375769054 | TPRN | c.2053C>A (p.Pro685Thr) c.1447C>A (p.Pro483Thr) n.2774C>A | gnomAD v4 |
9 | g.137192280C>A | CA375769066 | TPRN | c.2052G>T (p.Glu684Asp) c.1446G>T (p.Glu482Asp) n.2773G>T | |
9 | g.137192280C>G | CA375769068 | TPRN | c.2052G>C (p.Glu684Asp) c.1446G>C (p.Glu482Asp) n.2773G>C | |
9 | g.137192280C>T | CA467852201 | TPRN | c.2052G>A (p.Glu684=) c.1446G>A (p.Glu482=) n.2773G>A | |
9 | g.137192281T>A | CA375769074 | TPRN | c.2051A>T (p.Glu684Val) c.1445A>T (p.Glu482Val) n.2772A>T | |
9 | g.137192281T>C | CA375769077 | TPRN | c.2051A>G (p.Glu684Gly) c.1445A>G (p.Glu482Gly) n.2772A>G | dbSNP |
9 | g.137192281T>G | CA375769079 | TPRN | c.2051A>C (p.Glu684Ala) c.1445A>C (p.Glu482Ala) n.2772A>C | |
9 | g.137192281T= | CA1884347493 | TPRN | c.2051A= (p.Glu684=) c.1445A= (p.Glu482=) n.2772A= | |
9 | g.137192282C>A | CA375769089 | TPRN | c.2050G>T (p.Glu684Ter) c.1444G>T (p.Glu482Ter) n.2771G>T | |
9 | g.137192282C= | CA1884347494 | TPRN | c.2050G= (p.Glu684=) c.1444G= (p.Glu482=) n.2771G= | |
9 | g.137192282C>G | CA375769095 | TPRN | c.2050G>C (p.Glu684Gln) c.1444G>C (p.Glu482Gln) n.2771G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137192282C>T | CA375769098 | TPRN | c.2050G>A (p.Glu684Lys) c.1444G>A (p.Glu482Lys) n.2771G>A | |
9 | g.137192283T>A | CA467852204 | TPRN | c.2049A>T (p.Ala683=) c.1443A>T (p.Ala481=) n.2770A>T | |
9 | g.137192283T>C | CA467852203 | TPRN | c.2049A>G (p.Ala683=) c.1443A>G (p.Ala481=) n.2770A>G | gnomAD v4 |
9 | g.137192283T>G | CA467852202 | TPRN | c.2049A>C (p.Ala683=) c.1443A>C (p.Ala481=) n.2770A>C | |
9 | g.137192284G>A | CA5362543 | TPRN | c.2048C>T (p.Ala683Val) c.1442C>T (p.Ala481Val) n.2769C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137192284G>C | CA375769100 | TPRN | c.2048C>G (p.Ala683Gly) c.1442C>G (p.Ala481Gly) n.2769C>G | |
9 | g.137192284G= | CA1884347495 | TPRN | c.2048C= (p.Ala683=) c.1442C= (p.Ala481=) n.2769C= | |
9 | g.137192284G>T | CA375769101 | TPRN | c.2048C>A (p.Ala683Glu) c.1442C>A (p.Ala481Glu) n.2769C>A | |
9 | g.137192285C>A | CA375769102 | TPRN | c.2047G>T (p.Ala683Ser) c.1441G>T (p.Ala481Ser) n.2768G>T | |
9 | g.137192285C>G | CA375769103 | TPRN | c.2047G>C (p.Ala683Pro) c.1441G>C (p.Ala481Pro) n.2768G>C | |
9 | g.137192285C>T | CA375769104 | TPRN | c.2047G>A (p.Ala683Thr) c.1441G>A (p.Ala481Thr) n.2768G>A | |
9 | g.137192286C>A | CA375769108 | TPRN | c.2046G>T (p.Glu682Asp) c.1440G>T (p.Glu480Asp) n.2767G>T | |
9 | g.137192286C>G | CA375769106 | TPRN | c.2046G>C (p.Glu682Asp) c.1440G>C (p.Glu480Asp) n.2767G>C | |
9 | g.137192286C>T | CA467852205 | TPRN | c.2046G>A (p.Glu682=) c.1440G>A (p.Glu480=) n.2767G>A | |
9 | g.137192287T>A | CA375769110 | TPRN | c.2045A>T (p.Glu682Val) c.1439A>T (p.Glu480Val) n.2766A>T | |
9 | g.137192287T>C | CA375769111 | TPRN | c.2045A>G (p.Glu682Gly) c.1439A>G (p.Glu480Gly) n.2766A>G | |
9 | g.137192287T>G | CA375769112 | TPRN | c.2045A>C (p.Glu682Ala) c.1439A>C (p.Glu480Ala) n.2766A>C | |
9 | g.137192288C>A | CA375769115 | TPRN | c.2044G>T (p.Glu682Ter) c.1438G>T (p.Glu480Ter) n.2765G>T | |
9 | g.137192288C>G | CA375769126 | TPRN | c.2044G>C (p.Glu682Gln) c.1438G>C (p.Glu480Gln) n.2765G>C | |
9 | g.137192288C>T | CA375769128 | TPRN | c.2044G>A (p.Glu682Lys) c.1438G>A (p.Glu480Lys) n.2765G>A | gnomAD v4 |
9 | g.137192289C>A | CA375769140 | TPRN | c.2043G>T (p.Arg681Ser) c.1437G>T (p.Arg479Ser) n.2764G>T | |
9 | g.137192289C>G | CA375769134 | TPRN | c.2043G>C (p.Arg681Ser) c.1437G>C (p.Arg479Ser) n.2764G>C |