| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254401_5254409del | CA2612152326 | HBG2 | c.200_208del (p.Lys67_Leu69del) c.35_43del (p.Lys12_Leu14del) c.1746_1754del (n.1746_1754del) c.170_178del (p.Lys57_Leu59del) c.*69_*77del (n.*69_*77del) c.149_157del (p.Gln50_Leu52del) | gnomAD v4 |
| 11 | g.5254404A>C | CA379264368 | HBG2 | c.203T>G (p.Val68Gly) c.38T>G (p.Val13Gly) c.1749T>G (n.1749T>G) c.173T>G (p.Val58Gly) c.*72T>G (n.*72T>G) c.152A>C (p.His51Pro) | |
| 11 | g.5254404A>G | CA379264367 | HBG2 | c.203T>C (p.Val68Ala) c.38T>C (p.Val13Ala) c.1749T>C (n.1749T>C) c.173T>C (p.Val58Ala) c.*72T>C (n.*72T>C) c.152A>G (p.His51Arg) | |
| 11 | g.5254404A>T | CA379264366 | HBG2 | c.203T>A (p.Val68Glu) c.38T>A (p.Val13Glu) c.1749T>A (n.1749T>A) c.173T>A (p.Val58Glu) c.*72T>A (n.*72T>A) c.152A>T (p.His51Leu) | |
| 11 | g.5254405C>A | CA379264369 | HBG2 | c.202G>T (p.Val68Leu) c.37G>T (p.Val13Leu) c.1748G>T (n.1748G>T) c.172G>T (p.Val58Leu) c.*71G>T (n.*71G>T) c.153C>A (p.His51Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254405C= | CA1949577435 | HBG2 | c.202G= (p.Val68=) c.37G= (p.Val13=) c.1748G= (n.1748G=) c.172G= (p.Val58=) c.*71G= (n.*71G=) c.153C= (p.His51=) | |
| 11 | g.5254405C>G | CA379264370 | HBG2 | c.202G>C (p.Val68Leu) c.37G>C (p.Val13Leu) c.1748G>C (n.1748G>C) c.172G>C (p.Val58Leu) c.*71G>C (n.*71G>C) c.153C>G (p.His51Gln) | |
| 11 | g.5254405C>T | CA128617 | HBG2 | c.202G>A (p.Val68Met) c.37G>A (p.Val13Met) c.1748G>A (n.1748G>A) c.172G>A (p.Val58Met) c.*71G>A (n.*71G>A) c.153C>T (p.His51=) | ClinVar dbSNP |
| 11 | g.5254406C>A | CA379264371 | HBG2 | c.201G>T (p.Lys67Asn) c.36G>T (p.Lys12Asn) c.1747G>T (n.1747G>T) c.171G>T (p.Lys57Asn) c.*70G>T (n.*70G>T) c.154C>A (p.Leu52Ile) | gnomAD v4 COSMIC |
| 11 | g.5254406C= | CA1949577436 | HBG2 | c.201G= (p.Lys67=) c.36G= (p.Lys12=) c.1747G= (n.1747G=) c.171G= (p.Lys57=) c.*70G= (n.*70G=) c.154C= (p.Leu52=) | |
| 11 | g.5254406C>G | CA379264372 | HBG2 | c.201G>C (p.Lys67Asn) c.36G>C (p.Lys12Asn) c.1747G>C (n.1747G>C) c.171G>C (p.Lys57Asn) c.*70G>C (n.*70G>C) c.154C>G (p.Leu52Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254406C>T | CA379264373 | HBG2 | c.201G>A (p.Lys67=) c.36G>A (p.Lys12=) c.1747G>A (n.1747G>A) c.171G>A (p.Lys57=) c.*70G>A (n.*70G>A) c.154C>T (p.Leu52Phe) | |
| 11 | g.5254406_5254407delinsCT | CA1949577438 | HBG2 | c.200_201delinsAG (p.Lys67=) c.35_36delinsAG (p.Lys12=) c.1746_1747delinsAG (n.1746_1747delinsAG) c.170_171delinsAG (p.Lys57=) c.*69_*70delinsAG (n.*69_*70delinsAG) c.154_155delinsCT (p.Leu52=) | |
| 11 | g.5254407T>A | CA217121293 | HBG2 | c.200A>T (p.Lys67Met) c.35A>T (p.Lys12Met) c.1746A>T (n.1746A>T) c.170A>T (p.Lys57Met) c.*69A>T (n.*69A>T) c.155T>A (p.Leu52His) | dbSNP |
| 11 | g.5254407T>C | CA124536 | HBG2 | c.200A>G (p.Lys67Arg) c.35A>G (p.Lys12Arg) c.1746A>G (n.1746A>G) c.170A>G (p.Lys57Arg) c.*69A>G (n.*69A>G) c.155T>C (p.Leu52Pro) | ClinVar dbSNP |
| 11 | g.5254407T>G | CA379264374 | HBG2 | c.200A>C (p.Lys67Thr) c.35A>C (p.Lys12Thr) c.1746A>C (n.1746A>C) c.170A>C (p.Lys57Thr) c.*69A>C (n.*69A>C) c.155T>G (p.Leu52Arg) | |
| 11 | g.5254407T= | CA1949577441 | HBG2 | c.200A= (p.Lys67=) c.35A= (p.Lys12=) c.1746A= (n.1746A=) c.170A= (p.Lys57=) c.*69A= (n.*69A=) c.155T= (p.Leu52=) | |
| 11 | g.5254408del | CA1949577440 | HBG2 | c.200del (p.Lys67ArgfsTer3) c.35del (p.Lys12ArgfsTer3) c.1746del (n.1746del) c.170del (p.Lys57ArgfsTer3) c.*69del (n.*69del) c.156del (p.Ala54ProfsTer?) | dbSNP |
| 11 | g.5254408T>A | CA379264375 | HBG2 | c.199A>T (p.Lys67Ter) c.34A>T (p.Lys12Ter) c.1745A>T (n.1745A>T) c.169A>T (p.Lys57Ter) c.*68A>T (n.*68A>T) c.156T>A (p.Leu52=) | |
| 11 | g.5254408T>C | CA379264376 | HBG2 | c.199A>G (p.Lys67Glu) c.34A>G (p.Lys12Glu) c.1745A>G (n.1745A>G) c.169A>G (p.Lys57Glu) c.*68A>G (n.*68A>G) c.156T>C (p.Leu52=) | |
| 11 | g.5254408T>G | CA124550 | HBG2 | c.199A>C (p.Lys67Gln) c.34A>C (p.Lys12Gln) c.1745A>C (n.1745A>C) c.169A>C (p.Lys57Gln) c.*68A>C (n.*68A>C) c.156T>G (p.Leu52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254408T= | CA1949577445 | HBG2 | c.199A= (p.Lys67=) c.34A= (p.Lys12=) c.1745A= (n.1745A=) c.169A= (p.Lys57=) c.*68A= (n.*68A=) c.156T= (p.Leu52=) | |
| 11 | g.5254409C>A | CA217121305 | HBG2 | c.198G>T (p.Lys66Asn) c.33G>T (p.Lys11Asn) c.1744G>T (n.1744G>T) c.168G>T (p.Lys56Asn) c.*67G>T (n.*67G>T) c.157C>A (p.Leu53Ile) | dbSNP |
| 11 | g.5254409C= | CA1949577448 | HBG2 | c.198G= (p.Lys66=) c.33G= (p.Lys11=) c.1744G= (n.1744G=) c.168G= (p.Lys56=) c.*67G= (n.*67G=) c.157C= (p.Leu53=) | |
| 11 | g.5254409C>G | CA124502 | HBG2 | c.198G>C (p.Lys66Asn) c.33G>C (p.Lys11Asn) c.1744G>C (n.1744G>C) c.168G>C (p.Lys56Asn) c.*67G>C (n.*67G>C) c.157C>G (p.Leu53Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254409C>T | CA379264377 | HBG2 | c.198G>A (p.Lys66=) c.33G>A (p.Lys11=) c.1744G>A (n.1744G>A) c.168G>A (p.Lys56=) c.*67G>A (n.*67G>A) c.157C>T (p.Leu53Phe) | gnomAD v4 |
| 11 | g.5254410T>A | CA379264378 | HBG2 | c.197A>T (p.Lys66Met) c.32A>T (p.Lys11Met) c.1743A>T (n.1743A>T) c.167A>T (p.Lys56Met) c.*66A>T (n.*66A>T) c.158T>A (p.Leu53His) | |
| 11 | g.5254410T>C | CA379264379 | HBG2 | c.197A>G (p.Lys66Arg) c.32A>G (p.Lys11Arg) c.1743A>G (n.1743A>G) c.167A>G (p.Lys56Arg) c.*66A>G (n.*66A>G) c.158T>C (p.Leu53Pro) | |
| 11 | g.5254410T>G | CA379264380 | HBG2 | c.197A>C (p.Lys66Thr) c.32A>C (p.Lys11Thr) c.1743A>C (n.1743A>C) c.167A>C (p.Lys56Thr) c.*66A>C (n.*66A>C) c.158T>G (p.Leu53Arg) | |
| 11 | g.5254411T>A | CA379264381 | HBG2 | c.196A>T (p.Lys66Ter) c.31A>T (p.Lys11Ter) c.1742A>T (n.1742A>T) c.166A>T (p.Lys56Ter) c.*65A>T (n.*65A>T) c.159T>A (p.Leu53=) | |
| 11 | g.5254411T>C | CA379264382 | HBG2 | c.196A>G (p.Lys66Glu) c.31A>G (p.Lys11Glu) c.1742A>G (n.1742A>G) c.166A>G (p.Lys56Glu) c.*65A>G (n.*65A>G) c.159T>C (p.Leu53=) | |
| 11 | g.5254411T>G | CA379264383 | HBG2 | c.196A>C (p.Lys66Gln) c.31A>C (p.Lys11Gln) c.1742A>C (n.1742A>C) c.166A>C (p.Lys56Gln) c.*65A>C (n.*65A>C) c.159T>G (p.Leu53=) | |
| 11 | g.5254412G>A | CA379264384 | HBG2 | c.195C>T (p.Gly65=) c.30C>T (p.Gly10=) c.1741C>T (n.1741C>T) c.165C>T (p.Gly55=) c.*64C>T (n.*64C>T) c.160G>A (p.Ala54Thr) | |
| 11 | g.5254412G>C | CA379264386 | HBG2 | c.195C>G (p.Gly65=) c.30C>G (p.Gly10=) c.1741C>G (n.1741C>G) c.165C>G (p.Gly55=) c.*64C>G (n.*64C>G) c.160G>C (p.Ala54Pro) | |
| 11 | g.5254412G>T | CA379264385 | HBG2 | c.195C>A (p.Gly65=) c.30C>A (p.Gly10=) c.1741C>A (n.1741C>A) c.165C>A (p.Gly55=) c.*64C>A (n.*64C>A) c.160G>T (p.Ala54Ser) | |
| 11 | g.5254413C>A | CA379264387 | HBG2 | c.194G>T (p.Gly65Val) c.29G>T (p.Gly10Val) c.1740G>T (n.1740G>T) c.164G>T (p.Gly55Val) c.*63G>T (n.*63G>T) c.161C>A (p.Ala54Asp) | |
| 11 | g.5254413C= | CA1949577451 | HBG2 | c.194G= (p.Gly65=) c.29G= (p.Gly10=) c.1740G= (n.1740G=) c.164G= (p.Gly55=) c.*63G= (n.*63G=) c.161C= (p.Ala54=) | |
| 11 | g.5254413C>G | CA379264388 | HBG2 | c.194G>C (p.Gly65Ala) c.29G>C (p.Gly10Ala) c.1740G>C (n.1740G>C) c.164G>C (p.Gly55Ala) c.*63G>C (n.*63G>C) c.161C>G (p.Ala54Gly) | |
| 11 | g.5254413C>T | CA379264389 | HBG2 | c.194G>A (p.Gly65Asp) c.29G>A (p.Gly10Asp) c.1740G>A (n.1740G>A) c.164G>A (p.Gly55Asp) c.*63G>A (n.*63G>A) c.161C>T (p.Ala54Val) | dbSNP |
| 11 | g.5254414C>A | CA379264390 | HBG2 | c.193G>T (p.Gly65Cys) c.28G>T (p.Gly10Cys) c.1739G>T (n.1739G>T) c.163G>T (p.Gly55Cys) c.*62G>T (n.*62G>T) c.162C>A (p.Ala54=) | |
| 11 | g.5254414C>G | CA379264391 | HBG2 | c.193G>C (p.Gly65Arg) c.28G>C (p.Gly10Arg) c.1739G>C (n.1739G>C) c.163G>C (p.Gly55Arg) c.*62G>C (n.*62G>C) c.162C>G (p.Ala54=) | |
| 11 | g.5254414C>T | CA379264392 | HBG2 | c.193G>A (p.Gly65Ser) c.28G>A (p.Gly10Ser) c.1739G>A (n.1739G>A) c.163G>A (p.Gly55Ser) c.*62G>A (n.*62G>A) c.162C>T (p.Ala54=) | gnomAD v4 |
| 11 | g.5254415del | CA2612152358 | HBG2 | c.192del (p.His64GlnfsTer6) c.27del (p.His9GlnfsTer6) c.1738del (n.1738del) c.162del (p.His54GlnfsTer6) c.*61del (n.*61del) c.163del (p.Met55CysfsTer29) | gnomAD v4 |
| 11 | g.5254415A>C | CA379264393 | HBG2 | c.192T>G (p.His64Gln) c.27T>G (p.His9Gln) c.1738T>G (n.1738T>G) c.162T>G (p.His54Gln) c.*61T>G (n.*61T>G) c.163A>C (p.Met55Leu) | |
| 11 | g.5254415A>G | CA379264394 | HBG2 | c.192T>C (p.His64=) c.27T>C (p.His9=) c.1738T>C (n.1738T>C) c.162T>C (p.His54=) c.*61T>C (n.*61T>C) c.163A>G (p.Met55Val) | |
| 11 | g.5254415A>T | CA379264395 | HBG2 | c.192T>A (p.His64Gln) c.27T>A (p.His9Gln) c.1738T>A (n.1738T>A) c.162T>A (p.His54Gln) c.*61T>A (n.*61T>A) c.163A>T (p.Met55Leu) | |
| 11 | g.5254416T>A | CA379264396 | HBG2 | c.191A>T (p.His64Leu) c.26A>T (p.His9Leu) c.1737A>T (n.1737A>T) c.161A>T (p.His54Leu) c.*60A>T (n.*60A>T) c.164T>A (p.Met55Lys) | ClinVar |
| 11 | g.5254416T>C | CA379264397 | HBG2 | c.191A>G (p.His64Arg) c.26A>G (p.His9Arg) c.1737A>G (n.1737A>G) c.161A>G (p.His54Arg) c.*60A>G (n.*60A>G) c.164T>C (p.Met55Thr) | |
| 11 | g.5254416T>G | CA379264398 | HBG2 | c.191A>C (p.His64Pro) c.26A>C (p.His9Pro) c.1737A>C (n.1737A>C) c.161A>C (p.His54Pro) c.*60A>C (n.*60A>C) c.164T>G (p.Met55Arg) | |
| 11 | g.5254417G>A | CA124542 | HBG2 | c.190C>T (p.His64Tyr) c.25C>T (p.His9Tyr) c.1736C>T (n.1736C>T) c.160C>T (p.His54Tyr) c.*59C>T (n.*59C>T) c.165G>A (p.Met55Ile) | ClinVar dbSNP |