Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.171847_181556del | CA916083461 | ClinVar | ||
16 | g.172001_181401del | CA916083462 | ClinVar | ||
16 | g.172005_177200del | CA16602274 | ClinVar | ||
16 | g.173384_177187del | CA16602246 | ClinVar | ||
16 | g.177069_177070delinsAC | CA2200883075 | HBA1 | c.236_237delinsAC (p.Asn79=) c.140_141delinsAC (p.Asn47=) n.372_373delinsAC n.205_206delinsAC | |
16 | g.177070del | CA7770248 | HBA1 | c.237del (p.Asn79LysfsTer6) c.141del (p.Asn47LysfsTer6) n.373del n.206del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177070C>A | CA393995430 | HBA1 | c.237C>A (p.Asn79Lys) c.141C>A (p.Asn47Lys) n.373C>A n.206C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.177070C= | CA2200883076 | HBA1 | c.237C= (p.Asn79=) c.141C= (p.Asn47=) n.373C= n.206C= | |
16 | g.177070C>G | CA125895 | HBA1 | c.237C>G (p.Asn79Lys) c.141C>G (p.Asn47Lys) n.373C>G n.206C>G | ClinVar dbSNP |
16 | g.177070C>T | CA492994608 | HBA1 | c.237C>T (p.Asn79=) c.141C>T (p.Asn47=) n.373C>T n.206C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177071G>A | CA125983 | HBA1 | c.238G>A (p.Ala80Thr) c.142G>A (p.Ala48Thr) n.374G>A n.207G>A | ClinVar dbSNP |
16 | g.177071G>C | CA393995435 | HBA1 | c.238G>C (p.Ala80Pro) c.142G>C (p.Ala48Pro) n.374G>C n.207G>C | |
16 | g.177071G= | CA2200883077 | HBA1 | c.238G= (p.Ala80=) c.142G= (p.Ala48=) n.374G= n.207G= | |
16 | g.177071G>T | CA393995437 | HBA1 | c.238G>T (p.Ala80Ser) c.142G>T (p.Ala48Ser) n.374G>T n.207G>T | |
16 | g.177072C>A | CA393995441 | HBA1 | c.239C>A (p.Ala80Glu) c.143C>A (p.Ala48Glu) n.375C>A n.208C>A | |
16 | g.177072C= | CA2200883078 | HBA1 | c.239C= (p.Ala80=) c.143C= (p.Ala48=) n.375C= n.208C= | |
16 | g.177072C>G | CA038224 | HBA1 | c.239C>G (p.Ala80Gly) c.143C>G (p.Ala48Gly) n.375C>G n.208C>G | dbSNP |
16 | g.177072C>T | CA393995439 | HBA1 | c.239C>T (p.Ala80Val) c.143C>T (p.Ala48Val) n.375C>T n.208C>T | |
16 | g.177073G>A | CA7770249 | HBA1 | c.240G>A (p.Ala80=) c.144G>A (p.Ala48=) n.376G>A n.209G>A | dbSNP ExAC gnomAD v2 |
16 | g.177073G>C | CA492994614 | HBA1 | c.240G>C (p.Ala80=) c.144G>C (p.Ala48=) n.376G>C n.209G>C | gnomAD v4 |
16 | g.177073G= | CA2200883079 | HBA1 | c.240G= (p.Ala80=) c.144G= (p.Ala48=) n.376G= n.209G= | |
16 | g.177073G>T | CA492994613 | HBA1 | c.240G>T (p.Ala80=) c.144G>T (p.Ala48=) n.376G>T n.209G>T | gnomAD v4 |
16 | g.177074C>A | CA393995447 | HBA1 | c.241C>A (p.Leu81Met) c.145C>A (p.Leu49Met) n.377C>A n.210C>A | |
16 | g.177074C>G | CA393995445 | HBA1 | c.241C>G (p.Leu81Val) c.145C>G (p.Leu49Val) n.377C>G n.210C>G | |
16 | g.177074C>T | CA492994615 | HBA1 | c.241C>T (p.Leu81=) c.145C>T (p.Leu49=) n.377C>T n.210C>T | |
16 | g.177075T>A | CA393995449 | HBA1 | c.242T>A (p.Leu81Gln) c.146T>A (p.Leu49Gln) n.378T>A n.211T>A | |
16 | g.177075T>C | CA393995450 | HBA1 | c.242T>C (p.Leu81Pro) c.146T>C (p.Leu49Pro) n.378T>C n.211T>C | |
16 | g.177075T>G | CA125672 | HBA1 | c.242T>G (p.Leu81Arg) c.146T>G (p.Leu49Arg) n.378T>G n.211T>G | ClinVar dbSNP |
16 | g.177075T= | CA2200883080 | HBA1 | c.242T= (p.Leu81=) c.146T= (p.Leu49=) n.378T= n.211T= | |
16 | g.177076G>A | CA492994617 | HBA1 | c.243G>A (p.Leu81=) c.147G>A (p.Leu49=) n.379G>A n.212G>A | |
16 | g.177076G>C | CA492994619 | HBA1 | c.243G>C (p.Leu81=) c.147G>C (p.Leu49=) n.379G>C n.212G>C | |
16 | g.177076G>T | CA492994621 | HBA1 | c.243G>T (p.Leu81=) c.147G>T (p.Leu49=) n.379G>T n.212G>T | |
16 | g.177077T>A | CA393995454 | HBA1 | c.244T>A (p.Ser82Thr) c.148T>A (p.Ser50Thr) n.380T>A n.213T>A | |
16 | g.177077T>C | CA393995455 | HBA1 | c.244T>C (p.Ser82Pro) c.148T>C (p.Ser50Pro) n.380T>C n.213T>C | |
16 | g.177077T>G | CA393995457 | HBA1 | c.244T>G (p.Ser82Ala) c.148T>G (p.Ser50Ala) n.380T>G n.213T>G | |
16 | g.177078C>A | CA393995459 | HBA1 | c.245C>A (p.Ser82Tyr) c.149C>A (p.Ser50Tyr) n.381C>A n.214C>A | gnomAD v4 |
16 | g.177078C= | CA2200883081 | HBA1 | c.245C= (p.Ser82=) c.149C= (p.Ser50=) n.381C= n.214C= | |
16 | g.177078C>G | CA125837 | HBA1 | c.245C>G (p.Ser82Cys) c.149C>G (p.Ser50Cys) n.381C>G n.214C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177078C>T | CA393995461 | HBA1 | c.245C>T (p.Ser82Phe) c.149C>T (p.Ser50Phe) n.381C>T n.214C>T | |
16 | g.177078_177087delinsCCGCCCTGAG | CA2200883082 | HBA1 | c.245_254delinsCCGCCCTGAG (p.Ser82=) c.149_158delinsCCGCCCTGAG (p.Ser50=) n.381_390delinsCCGCCCTGAG n.214_223delinsCCGCCCTGAG | |
16 | g.177079C>A | CA492994624 | HBA1 | c.246C>A (p.Ser82=) c.150C>A (p.Ser50=) n.382C>A n.215C>A | |
16 | g.177079C= | CA2200883083 | HBA1 | c.246C= (p.Ser82=) c.150C= (p.Ser50=) n.382C= n.215C= | |
16 | g.177079C>G | CA492994625 | HBA1 | c.246C>G (p.Ser82=) c.150C>G (p.Ser50=) n.382C>G n.215C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177079C>T | CA492994626 | HBA1 | c.246C>T (p.Ser82=) c.150C>T (p.Ser50=) n.382C>T n.215C>T | |
16 | g.177081_177089del | CA276416957 | HBA1 | c.248_256del (p.Ala83_Ser85del) c.152_160del (p.Ala51_Ser53del) n.384_392del n.217_225del | dbSNP |
16 | g.177080G>A | CA276416959 | HBA1 | c.247G>A (p.Ala83Thr) c.151G>A (p.Ala51Thr) n.383G>A n.216G>A | dbSNP gnomAD v4 |
16 | g.177080G>C | CA393995464 | HBA1 | c.247G>C (p.Ala83Pro) c.151G>C (p.Ala51Pro) n.383G>C n.216G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.177080G= | CA2200883084 | HBA1 | c.247G= (p.Ala83=) c.151G= (p.Ala51=) n.383G= n.216G= | |
16 | g.177080G>T | CA393995466 | HBA1 | c.247G>T (p.Ala83Ser) c.151G>T (p.Ala51Ser) n.383G>T n.216G>T | gnomAD v4 |
16 | g.177080_177087delinsTGCA | CA2695221233 | HBA1 | c.247_254delinsTGCA (p.Ala83CysfsTer19) c.151_158delinsTGCA (p.Ala51CysfsTer19) n.383_390delinsTGCA n.216_223delinsTGCA |