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.177096del | CA2695221234 | HBA1 | c.263del (p.His88ProfsTer15) c.167del (p.His56ProfsTer15) n.399del n.232del | |
16 | g.177096A= | CA2200883096 | HBA1 | c.263A= (p.His88=) c.167A= (p.His56=) n.399A= n.232A= | |
16 | g.177096A>C | CA276416985 | HBA1 | c.263A>C (p.His88Pro) c.167A>C (p.His56Pro) n.399A>C n.232A>C | dbSNP |
16 | g.177096A>G | CA125761 | HBA1 | c.263A>G (p.His88Arg) c.167A>G (p.His56Arg) n.399A>G n.232A>G | ClinVar dbSNP |
16 | g.177096A>T | CA393995530 | HBA1 | c.263A>T (p.His88Leu) c.167A>T (p.His56Leu) n.399A>T n.232A>T | |
16 | g.177097C>A | CA393995532 | HBA1 | c.264C>A (p.His88Gln) c.168C>A (p.His56Gln) n.400C>A n.233C>A | gnomAD v4 |
16 | g.177097C= | CA2200883097 | HBA1 | c.264C= (p.His88=) c.168C= (p.His56=) n.400C= n.233C= | |
16 | g.177097C>G | CA393995533 | HBA1 | c.264C>G (p.His88Gln) c.168C>G (p.His56Gln) n.400C>G n.233C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.177097C>T | CA492994658 | HBA1 | c.264C>T (p.His88=) c.168C>T (p.His56=) n.400C>T n.233C>T | gnomAD v4 |
16 | g.177100_177101del | CA2630739878 | HBA1 | c.267_268del (p.His90GlnfsTer?) c.171_172del (p.His58GlnfsTer?) n.403_404del n.236_237del | gnomAD v4 |
16 | g.177098G>A | CA393995534 | HBA1 | c.265G>A (p.Ala89Thr) c.169G>A (p.Ala57Thr) n.401G>A n.234G>A | |
16 | g.177098G>C | CA393995535 | HBA1 | c.265G>C (p.Ala89Pro) c.169G>C (p.Ala57Pro) n.401G>C n.234G>C | |
16 | g.177098G= | CA2200883098 | HBA1 | c.265G= (p.Ala89=) c.169G= (p.Ala57=) n.401G= n.234G= | |
16 | g.177098G>T | CA125813 | HBA1 | c.265G>T (p.Ala89Ser) c.169G>T (p.Ala57Ser) n.401G>T n.234G>T | ClinVar dbSNP gnomAD v4 |
16 | g.177099C>A | CA276416988 | HBA1 | c.266C>A (p.Ala89Glu) c.170C>A (p.Ala57Glu) n.402C>A n.235C>A | dbSNP |
16 | g.177099C= | CA2200883099 | HBA1 | c.266C= (p.Ala89=) c.170C= (p.Ala57=) n.402C= n.235C= | |
16 | g.177099C>G | CA276416989 | HBA1 | c.266C>G (p.Ala89Gly) c.170C>G (p.Ala57Gly) n.402C>G n.235C>G | dbSNP |
16 | g.177099C>T | CA276416991 | HBA1 | c.266C>T (p.Ala89Val) c.170C>T (p.Ala57Val) n.402C>T n.235C>T | dbSNP |
16 | g.177100G>A | CA492994668 | HBA1 | c.267G>A (p.Ala89=) c.171G>A (p.Ala57=) n.403G>A n.236G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177100G>C | CA492994666 | HBA1 | c.267G>C (p.Ala89=) c.171G>C (p.Ala57=) n.403G>C n.236G>C | |
16 | g.177100G= | CA2200883100 | HBA1 | c.267G= (p.Ala89=) c.171G= (p.Ala57=) n.403G= n.236G= | |
16 | g.177100G>T | CA492994667 | HBA1 | c.267G>T (p.Ala89=) c.171G>T (p.Ala57=) n.403G>T n.236G>T | gnomAD v4 |
16 | g.177101C>A | CA393995541 | HBA1 | c.268C>A (p.His90Asn) c.172C>A (p.His58Asn) n.404C>A n.237C>A | gnomAD v4 |
16 | g.177101C= | CA2200883101 | HBA1 | c.268C= (p.His90=) c.172C= (p.His58=) n.404C= n.237C= | |
16 | g.177101C>G | CA393995543 | HBA1 | c.268C>G (p.His90Asp) c.172C>G (p.His58Asp) n.404C>G n.237C>G | |
16 | g.177101C>T | CA126015 | HBA1 | c.268C>T (p.His90Tyr) c.172C>T (p.His58Tyr) n.404C>T n.237C>T | ClinVar dbSNP |
16 | g.177102A= | CA2200883102 | HBA1 | c.269A= (p.His90=) c.173A= (p.His58=) n.405A= n.238A= | |
16 | g.177102A>C | CA126017 | HBA1 | c.269A>C (p.His90Pro) c.173A>C (p.His58Pro) n.405A>C n.238A>C | ClinVar dbSNP |
16 | g.177102A>G | CA126019 | HBA1 | c.269A>G (p.His90Arg) c.173A>G (p.His58Arg) n.405A>G n.238A>G | ClinVar dbSNP gnomAD v4 |
16 | g.177102A>T | CA125945 | HBA1 | c.269A>T (p.His90Leu) c.173A>T (p.His58Leu) n.405A>T n.238A>T | ClinVar dbSNP gnomAD v4 |
16 | g.177103C>A | CA276416995 | HBA1 | c.270C>A (p.His90Gln) c.174C>A (p.His58Gln) n.406C>A n.239C>A | dbSNP |
16 | g.177103C= | CA2200883103 | HBA1 | c.270C= (p.His90=) c.174C= (p.His58=) n.406C= n.239C= | |
16 | g.177103C>G | CA126013 | HBA1 | c.270C>G (p.His90Gln) c.174C>G (p.His58Gln) n.406C>G n.239C>G | ClinVar dbSNP gnomAD v4 |
16 | g.177103C>T | CA492994676 | HBA1 | c.270C>T (p.His90=) c.174C>T (p.His58=) n.406C>T n.239C>T | |
16 | g.177104A= | CA2200883104 | HBA1 | c.271A= (p.Lys91=) c.175A= (p.Lys59=) n.407A= n.240A= | |
16 | g.177104A>C | CA393995557 | HBA1 | c.271A>C (p.Lys91Gln) c.175A>C (p.Lys59Gln) n.407A>C n.240A>C | |
16 | g.177104A>G | CA276416997 | HBA1 | c.271A>G (p.Lys91Glu) c.175A>G (p.Lys59Glu) n.407A>G n.240A>G | dbSNP |
16 | g.177104A>T | CA393995559 | HBA1 | c.271A>T (p.Lys91Ter) c.175A>T (p.Lys59Ter) n.407A>T n.240A>T | |
16 | g.177105A= | CA2200883105 | HBA1 | c.272A= (p.Lys91=) c.176A= (p.Lys59=) n.408A= n.241A= | |
16 | g.177105A>C | CA125783 | HBA1 | c.272A>C (p.Lys91Thr) c.176A>C (p.Lys59Thr) n.408A>C n.241A>C | ClinVar dbSNP gnomAD v4 |
16 | g.177105A>G | CA276416999 | HBA1 | c.272A>G (p.Lys91Arg) c.176A>G (p.Lys59Arg) n.408A>G n.241A>G | dbSNP |
16 | g.177105A>T | CA125749 | HBA1 | c.272A>T (p.Lys91Met) c.176A>T (p.Lys59Met) n.408A>T n.241A>T | ClinVar dbSNP |
16 | g.177106G>A | CA492994680 | HBA1 | c.273G>A (p.Lys91=) c.177G>A (p.Lys59=) n.409G>A n.242G>A | gnomAD v4 |
16 | g.177106G>C | CA125688 | HBA1 | c.273G>C (p.Lys91Asn) c.177G>C (p.Lys59Asn) n.409G>C n.242G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177106G= | CA2200883106 | HBA1 | c.273G= (p.Lys91=) c.177G= (p.Lys59=) n.409G= n.242G= | |
16 | g.177106G>T | CA276417004 | HBA1 | c.273G>T (p.Lys91Asn) c.177G>T (p.Lys59Asn) n.409G>T n.242G>T | dbSNP gnomAD v4 |