| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254380A= | CA1949577364 | HBG2 | c.227T= (p.Ile76=) c.62T= (p.Ile21=) c.197T= (p.Ile66=) c.*96T= (n.*96T=) c.128A= (p.Tyr43=) | |
| 11 | g.5254380A>C | CA379264302 | HBG2 | c.227T>G (p.Ile76Arg) c.62T>G (p.Ile21Arg) c.197T>G (p.Ile66Arg) c.*96T>G (n.*96T>G) c.128A>C (p.Tyr43Ser) | |
| 11 | g.5254380A>G | CA124562 | HBG2 | c.227T>C (p.Ile76Thr) c.62T>C (p.Ile21Thr) c.197T>C (p.Ile66Thr) c.*96T>C (n.*96T>C) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254380A>T | CA379264303 | HBG2 | c.227T>A (p.Ile76Lys) c.62T>A (p.Ile21Lys) c.197T>A (p.Ile66Lys) c.*96T>A (n.*96T>A) c.128A>T (p.Tyr43Phe) | |
| 11 | g.5254381T>A | CA379264304 | HBG2 | c.226A>T (p.Ile76Leu) c.61A>T (p.Ile21Leu) c.196A>T (p.Ile66Leu) c.*95A>T (n.*95A>T) c.129T>A (p.Tyr43Ter) | |
| 11 | g.5254381T>C | CA5840264 | HBG2 | c.226A>G (p.Ile76Val) c.61A>G (p.Ile21Val) c.196A>G (p.Ile66Val) c.*95A>G (n.*95A>G) c.129T>C (p.Tyr43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254381T>G | CA379264305 | HBG2 | c.226A>C (p.Ile76Leu) c.61A>C (p.Ile21Leu) c.196A>C (p.Ile66Leu) c.*95A>C (n.*95A>C) c.129T>G (p.Tyr43Ter) | |
| 11 | g.5254381T= | CA1949577372 | HBG2 | c.226A= (p.Ile76=) c.61A= (p.Ile21=) c.196A= (p.Ile66=) c.*95A= (n.*95A=) c.129T= (p.Tyr43=) | |
| 11 | g.5254382G>A | CA379264306 | HBG2 | c.225C>T (p.Ala75=) c.60C>T (p.Ala20=) c.195C>T (p.Ala65=) c.*94C>T (n.*94C>T) c.130G>A (p.Gly44Ser) | |
| 11 | g.5254382G>C | CA379264308 | HBG2 | c.225C>G (p.Ala75=) c.60C>G (p.Ala20=) c.195C>G (p.Ala65=) c.*94C>G (n.*94C>G) c.130G>C (p.Gly44Arg) | |
| 11 | g.5254382G>T | CA379264307 | HBG2 | c.225C>A (p.Ala75=) c.60C>A (p.Ala20=) c.195C>A (p.Ala65=) c.*94C>A (n.*94C>A) c.130G>T (p.Gly44Cys) | |
| 11 | g.5254383G>A | CA379264309 | HBG2 | c.224C>T (p.Ala75Val) c.59C>T (p.Ala20Val) c.194C>T (p.Ala65Val) c.*93C>T (n.*93C>T) c.131G>A (p.Gly44Asp) | gnomAD v4 COSMIC |
| 11 | g.5254383G>C | CA379264310 | HBG2 | c.224C>G (p.Ala75Gly) c.59C>G (p.Ala20Gly) c.194C>G (p.Ala65Gly) c.*93C>G (n.*93C>G) c.131G>C (p.Gly44Ala) | gnomAD v4 |
| 11 | g.5254383G>T | CA379264311 | HBG2 | c.224C>A (p.Ala75Asp) c.59C>A (p.Ala20Asp) c.194C>A (p.Ala65Asp) c.*93C>A (n.*93C>A) c.131G>T (p.Gly44Val) | gnomAD v4 |
| 11 | g.5254384C>A | CA379264312 | HBG2 | c.223G>T (p.Ala75Ser) c.58G>T (p.Ala20Ser) c.193G>T (p.Ala65Ser) c.*92G>T (n.*92G>T) c.132C>A (p.Gly44=) | |
| 11 | g.5254384C>G | CA379264313 | HBG2 | c.223G>C (p.Ala75Pro) c.58G>C (p.Ala20Pro) c.193G>C (p.Ala65Pro) c.*92G>C (n.*92G>C) c.132C>G (p.Gly44=) | gnomAD v4 |
| 11 | g.5254384C>T | CA379264314 | HBG2 | c.223G>A (p.Ala75Thr) c.58G>A (p.Ala20Thr) c.193G>A (p.Ala65Thr) c.*92G>A (n.*92G>A) c.132C>T (p.Gly44=) | gnomAD v4 |
| 11 | g.5254385A= | CA1949577373 | HBG2 | c.222T= (p.Asp74=) c.57T= (p.Asp19=) c.192T= (p.Asp64=) c.*91T= (n.*91T=) c.133A= (p.Ile45=) | |
| 11 | g.5254385A>C | CA379264315 | HBG2 | c.222T>G (p.Asp74Glu) c.57T>G (p.Asp19Glu) c.192T>G (p.Asp64Glu) c.*91T>G (n.*91T>G) c.133A>C (p.Ile45Leu) | |
| 11 | g.5254385A>G | CA379264316 | HBG2 | c.222T>C (p.Asp74=) c.57T>C (p.Asp19=) c.192T>C (p.Asp64=) c.*91T>C (n.*91T>C) c.133A>G (p.Ile45Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254385A>T | CA379264317 | HBG2 | c.222T>A (p.Asp74Glu) c.57T>A (p.Asp19Glu) c.192T>A (p.Asp64Glu) c.*91T>A (n.*91T>A) c.133A>T (p.Ile45Phe) | |
| 11 | g.5254386T>A | CA379264318 | HBG2 | c.221A>T (p.Asp74Val) c.56A>T (p.Asp19Val) c.191A>T (p.Asp64Val) c.*90A>T (n.*90A>T) c.134T>A (p.Ile45Asn) | |
| 11 | g.5254386T>C | CA379264319 | HBG2 | c.221A>G (p.Asp74Gly) c.56A>G (p.Asp19Gly) c.191A>G (p.Asp64Gly) c.*90A>G (n.*90A>G) c.134T>C (p.Ile45Thr) | |
| 11 | g.5254386T>G | CA379264320 | HBG2 | c.221A>C (p.Asp74Ala) c.56A>C (p.Asp19Ala) c.191A>C (p.Asp64Ala) c.*90A>C (n.*90A>C) c.134T>G (p.Ile45Ser) | |
| 11 | g.5254387C>A | CA379264321 | HBG2 | c.220G>T (p.Asp74Tyr) c.55G>T (p.Asp19Tyr) c.190G>T (p.Asp64Tyr) c.*89G>T (n.*89G>T) c.135C>A (p.Ile45=) | |
| 11 | g.5254387C>G | CA379264323 | HBG2 | c.220G>C (p.Asp74His) c.55G>C (p.Asp19His) c.190G>C (p.Asp64His) c.*89G>C (n.*89G>C) c.135C>G (p.Ile45Met) | gnomAD v4 |
| 11 | g.5254387C>T | CA379264322 | HBG2 | c.220G>A (p.Asp74Asn) c.55G>A (p.Asp19Asn) c.190G>A (p.Asp64Asn) c.*89G>A (n.*89G>A) c.135C>T (p.Ile45=) | COSMIC |
| 11 | g.5254388T>A | CA379264324 | HBG2 | c.219A>T (p.Gly73=) c.54A>T (p.Gly18=) c.189A>T (p.Gly63=) c.*88A>T (n.*88A>T) c.136T>A (p.Ser46Thr) | |
| 11 | g.5254388T>C | CA379264325 | HBG2 | c.219A>G (p.Gly73=) c.54A>G (p.Gly18=) c.189A>G (p.Gly63=) c.*88A>G (n.*88A>G) c.136T>C (p.Ser46Pro) | |
| 11 | g.5254388T>G | CA379264326 | HBG2 | c.219A>C (p.Gly73=) c.54A>C (p.Gly18=) c.189A>C (p.Gly63=) c.*88A>C (n.*88A>C) c.136T>G (p.Ser46Ala) | |
| 11 | g.5254389C>A | CA379264327 | HBG2 | c.218G>T (p.Gly73Val) c.53G>T (p.Gly18Val) c.188G>T (p.Gly63Val) c.*87G>T (n.*87G>T) c.137C>A (p.Ser46Tyr) | |
| 11 | g.5254389C= | CA1949577378 | HBG2 | c.218G= (p.Gly73=) c.53G= (p.Gly18=) c.188G= (p.Gly63=) c.*87G= (n.*87G=) c.137C= (p.Ser46=) | |
| 11 | g.5254389C>G | CA379264328 | HBG2 | c.218G>C (p.Gly73Ala) c.53G>C (p.Gly18Ala) c.188G>C (p.Gly63Ala) c.*87G>C (n.*87G>C) c.137C>G (p.Ser46Cys) | |
| 11 | g.5254389C>T | CA379264329 | HBG2 | c.218G>A (p.Gly73Glu) c.53G>A (p.Gly18Glu) c.188G>A (p.Gly63Glu) c.*87G>A (n.*87G>A) c.137C>T (p.Ser46Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5254390C>A | CA379264330 | HBG2 | c.217G>T (p.Gly73Ter) c.52G>T (p.Gly18Ter) c.187G>T (p.Gly63Ter) c.*86G>T (n.*86G>T) c.138C>A (p.Ser46=) | |
| 11 | g.5254390C= | CA1949577384 | HBG2 | c.217G= (p.Gly73=) c.52G= (p.Gly18=) c.187G= (p.Gly63=) c.*86G= (n.*86G=) c.138C= (p.Ser46=) | |
| 11 | g.5254390C>G | CA124528 | HBG2 | c.217G>C (p.Gly73Arg) c.52G>C (p.Gly18Arg) c.187G>C (p.Gly63Arg) c.*86G>C (n.*86G>C) c.138C>G (p.Ser46=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254390C>T | CA379264331 | HBG2 | c.217G>A (p.Gly73Arg) c.52G>A (p.Gly18Arg) c.187G>A (p.Gly63Arg) c.*86G>A (n.*86G>A) c.138C>T (p.Ser46=) | |
| 11 | g.5254391C>A | CA379264334 | HBG2 | c.216G>T (p.Leu72Phe) c.51G>T (p.Leu17Phe) c.186G>T (p.Leu62Phe) c.*85G>T (n.*85G>T) c.139C>A (p.Gln47Lys) | |
| 11 | g.5254391C>G | CA379264333 | HBG2 | c.216G>C (p.Leu72Phe) c.51G>C (p.Leu17Phe) c.186G>C (p.Leu62Phe) c.*85G>C (n.*85G>C) c.139C>G (p.Gln47Glu) | gnomAD v4 |
| 11 | g.5254391C>T | CA379264332 | HBG2 | c.216G>A (p.Leu72=) c.51G>A (p.Leu17=) c.186G>A (p.Leu62=) c.*85G>A (n.*85G>A) c.139C>T (p.Gln47Ter) | |
| 11 | g.5254392A= | CA1949577390 | HBG2 | c.215T= (p.Leu72=) c.50T= (p.Leu17=) c.1761T= (n.1761T=) c.185T= (p.Leu62=) c.*84T= (n.*84T=) c.140A= (p.Gln47=) | |
| 11 | g.5254392A>C | CA379264335 | HBG2 | c.215T>G (p.Leu72Trp) c.50T>G (p.Leu17Trp) c.1761T>G (n.1761T>G) c.185T>G (p.Leu62Trp) c.*84T>G (n.*84T>G) c.140A>C (p.Gln47Pro) | |
| 11 | g.5254392A>G | CA379264336 | HBG2 | c.215T>C (p.Leu72Ser) c.50T>C (p.Leu17Ser) c.1761T>C (n.1761T>C) c.185T>C (p.Leu62Ser) c.*84T>C (n.*84T>C) c.140A>G (p.Gln47Arg) | dbSNP gnomAD v4 |
| 11 | g.5254392A>T | CA379264337 | HBG2 | c.215T>A (p.Leu72Ter) c.50T>A (p.Leu17Ter) c.1761T>A (n.1761T>A) c.185T>A (p.Leu62Ter) c.*84T>A (n.*84T>A) c.140A>T (p.Gln47Leu) | |
| 11 | g.5254393A>C | CA379264338 | HBG2 | c.214T>G (p.Leu72Val) c.49T>G (p.Leu17Val) c.1760T>G (n.1760T>G) c.184T>G (p.Leu62Val) c.*83T>G (n.*83T>G) c.141A>C (p.Gln47His) | |
| 11 | g.5254393A>G | CA472886077 | HBG2 | c.214T>C (p.Leu72=) c.49T>C (p.Leu17=) c.1760T>C (n.1760T>C) c.184T>C (p.Leu62=) c.*83T>C (n.*83T>C) c.141A>G (p.Gln47=) | |
| 11 | g.5254393A>T | CA379264339 | HBG2 | c.214T>A (p.Leu72Met) c.49T>A (p.Leu17Met) c.1760T>A (n.1760T>A) c.184T>A (p.Leu62Met) c.*83T>A (n.*83T>A) c.141A>T (p.Gln47His) | |
| 11 | g.5254394G>A | CA379264340 | HBG2 | c.213C>T (p.Ser71=) c.48C>T (p.Ser16=) c.1759C>T (n.1759C>T) c.183C>T (p.Ser61=) c.*82C>T (n.*82C>T) c.142G>A (p.Gly48Arg) | |
| 11 | g.5254394G>C | CA379264341 | HBG2 | c.213C>G (p.Ser71=) c.48C>G (p.Ser16=) c.1759C>G (n.1759C>G) c.183C>G (p.Ser61=) c.*82C>G (n.*82C>G) c.142G>C (p.Gly48Arg) |