| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39724744G>A | CA210550 | ERBB2 | c.2326G>A (p.Gly776Ser) c.2236G>A (p.Gly746Ser) c.1498G>A (p.Gly500Ser) c.2281G>A (p.Gly761Ser) c.*2116G>A (n.*2116G>A) c.432G>A n.3460G>A n.2650G>A c.2464G>A (p.Gly822Ser) c.2419G>A (p.Gly807Ser) c.2374G>A (p.Gly792Ser) c.2443G>A (p.Gly815Ser) c.2428G>A (p.Gly810Ser) c.2407G>A (p.Gly803Ser) c.2401G>A (p.Gly801Ser) c.2356G>A (p.Gly786Ser) c.2347G>A (p.Gly783Ser) c.2323G>A (p.Gly775Ser) c.2317G>A (p.Gly773Ser) c.2290G>A (p.Gly764Ser) c.2284G>A (p.Gly762Ser) c.2278G>A (p.Gly760Ser) c.2227G>A (p.Gly743Ser) c.2146G>A (p.Gly716Ser) c.2308-305G>A (n.2308-305G>A) c.2068G>A (p.Gly690Ser) c.2208+1084G>A (n.2208+1084G>A) c.1288G>A (p.Gly430Ser) n.2564G>A | ClinVar dbSNP COSMIC |
| 17 | g.39724744G>T | CA399302850 | ERBB2 | c.2326G>T (p.Gly776Cys) c.2236G>T (p.Gly746Cys) c.1498G>T (p.Gly500Cys) c.2281G>T (p.Gly761Cys) c.*2116G>T (n.*2116G>T) c.432G>T n.3460G>T n.2650G>T c.2464G>T (p.Gly822Cys) c.2419G>T (p.Gly807Cys) c.2374G>T (p.Gly792Cys) c.2443G>T (p.Gly815Cys) c.2428G>T (p.Gly810Cys) c.2407G>T (p.Gly803Cys) c.2401G>T (p.Gly801Cys) c.2356G>T (p.Gly786Cys) c.2347G>T (p.Gly783Cys) c.2323G>T (p.Gly775Cys) c.2317G>T (p.Gly773Cys) c.2290G>T (p.Gly764Cys) c.2284G>T (p.Gly762Cys) c.2278G>T (p.Gly760Cys) c.2227G>T (p.Gly743Cys) c.2146G>T (p.Gly716Cys) c.2308-305G>T (n.2308-305G>T) c.2068G>T (p.Gly690Cys) c.2208+1084G>T (n.2208+1084G>T) c.1288G>T (p.Gly430Cys) n.2564G>T | dbSNP COSMIC |
| 17 | g.39724744G>C | CA399302848 | ERBB2 | c.2326G>C (p.Gly776Arg) c.2236G>C (p.Gly746Arg) c.1498G>C (p.Gly500Arg) c.2281G>C (p.Gly761Arg) c.*2116G>C (n.*2116G>C) c.432G>C n.3460G>C n.2650G>C c.2464G>C (p.Gly822Arg) c.2419G>C (p.Gly807Arg) c.2374G>C (p.Gly792Arg) c.2443G>C (p.Gly815Arg) c.2428G>C (p.Gly810Arg) c.2407G>C (p.Gly803Arg) c.2401G>C (p.Gly801Arg) c.2356G>C (p.Gly786Arg) c.2347G>C (p.Gly783Arg) c.2323G>C (p.Gly775Arg) c.2317G>C (p.Gly773Arg) c.2290G>C (p.Gly764Arg) c.2284G>C (p.Gly762Arg) c.2278G>C (p.Gly760Arg) c.2227G>C (p.Gly743Arg) c.2146G>C (p.Gly716Arg) c.2308-305G>C (n.2308-305G>C) c.2068G>C (p.Gly690Arg) c.2208+1084G>C (n.2208+1084G>C) c.1288G>C (p.Gly430Arg) n.2564G>C | dbSNP gnomAD v4 |
| 17 | g.39724744G= | CA2259227982 | ERBB2 | c.2326G= (p.Gly776=) c.2236G= (p.Gly746=) c.1498G= (p.Gly500=) c.2281G= (p.Gly761=) c.*2116G= (n.*2116G=) c.432G= n.3460G= n.2650G= c.2464G= (p.Gly822=) c.2419G= (p.Gly807=) c.2374G= (p.Gly792=) c.2443G= (p.Gly815=) c.2428G= (p.Gly810=) c.2407G= (p.Gly803=) c.2401G= (p.Gly801=) c.2356G= (p.Gly786=) c.2347G= (p.Gly783=) c.2323G= (p.Gly775=) c.2317G= (p.Gly773=) c.2290G= (p.Gly764=) c.2284G= (p.Gly762=) c.2278G= (p.Gly760=) c.2227G= (p.Gly743=) c.2146G= (p.Gly716=) c.2308-305G= (n.2308-305G=) c.2068G= (p.Gly690=) c.2208+1084G= (n.2208+1084G=) c.1288G= (p.Gly430=) n.2564G= | dbSNP dbSNP |