Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107674226C>A | CA368848003 | SLC26A4 | c.478C>A (p.His160Asn) | |
7 | g.107674226C>G | CA368848004 | SLC26A4 | c.478C>G (p.His160Asp) | |
7 | g.107674226C>T | CA368848005 | SLC26A4 | c.478C>T (p.His160Tyr) | |
7 | g.107674227A= | CA1732746001 | SLC26A4 | c.479A= (p.His160=) | |
7 | g.107674227A>C | CA368848006 | SLC26A4 | c.479A>C (p.His160Pro) | |
7 | g.107674227A>G | CA368848007 | SLC26A4 | c.479A>G (p.His160Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674227A>T | CA368848008 | SLC26A4 | c.479A>T (p.His160Leu) | |
7 | g.107674228C>A | CA368848009 | SLC26A4 | c.480C>A (p.His160Gln) | |
7 | g.107674228C>G | CA368848010 | SLC26A4 | c.480C>G (p.His160Gln) | |
7 | g.107674228C>T | CA457105372 | SLC26A4 | c.480C>T (p.His160=) | gnomAD v4 |
7 | g.107674229T>A | CA368848011 | SLC26A4 | c.481T>A (p.Phe161Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674229T>C | CA368848012 | SLC26A4 | c.481T>C (p.Phe161Leu) | |
7 | g.107674229T>G | CA368848014 | SLC26A4 | c.481T>G (p.Phe161Val) | |
7 | g.107674229T= | CA1732746003 | SLC26A4 | c.481T= (p.Phe161=) | |
7 | g.107674230T>A | CA368848018 | SLC26A4 | c.482T>A (p.Phe161Tyr) | |
7 | g.107674230T>C | CA368848020 | SLC26A4 | c.482T>C (p.Phe161Ser) | |
7 | g.107674230T>G | CA368848016 | SLC26A4 | c.482T>G (p.Phe161Cys) | |
7 | g.107674231T>A | CA368848022 | SLC26A4 | c.483T>A (p.Phe161Leu) | |
7 | g.107674231T>C | CA457105373 | SLC26A4 | c.483T>C (p.Phe161=) | |
7 | g.107674231T>G | CA368848023 | SLC26A4 | c.483T>G (p.Phe161Leu) | |
7 | g.107674232C>A | CA368848025 | SLC26A4 | c.484C>A (p.Leu162Ile) | dbSNP |
7 | g.107674232C>G | CA368848027 | SLC26A4 | c.484C>G (p.Leu162Val) | |
7 | g.107674232C>T | CA368848029 | SLC26A4 | c.484C>T (p.Leu162Phe) | |
7 | g.107674233T>A | CA368848031 | SLC26A4 | c.485T>A (p.Leu162His) | |
7 | g.107674233T>C | CA368848033 | SLC26A4 | c.485T>C (p.Leu162Pro) | |
7 | g.107674233T>G | CA368848039 | SLC26A4 | c.485T>G (p.Leu162Arg) | |
7 | g.107674234C>A | CA457105374 | SLC26A4 | c.486C>A (p.Leu162=) | gnomAD v4 |
7 | g.107674234C= | CA1732746008 | SLC26A4 | c.486C= (p.Leu162=) | |
7 | g.107674234C>G | CA4432492 | SLC26A4 | c.486C>G (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674234C>T | CA4432491 | SLC26A4 | c.486C>T (p.Leu162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107674234_107674235delinsCG | CA1732746012 | SLC26A4 | c.486_487delinsCG (p.Leu162=) | |
7 | g.107674235del | CA577198874 | SLC26A4 | c.487del (p.Val163TyrfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674235G>A | CA4432494 | SLC26A4 | c.487G>A (p.Val163Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107674235G>C | CA4432493 | SLC26A4 | c.487G>C (p.Val163Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674235G= | CA1732746020 | SLC26A4 | c.487G= (p.Val163=) | |
7 | g.107674235G>T | CA368848043 | SLC26A4 | c.487G>T (p.Val163Leu) | |
7 | g.107674236T>A | CA368848052 | SLC26A4 | c.488T>A (p.Val163Glu) | |
7 | g.107674236T>C | CA4432495 | SLC26A4 | c.488T>C (p.Val163Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674236T>G | CA368848046 | SLC26A4 | c.488T>G (p.Val163Gly) | |
7 | g.107674236T= | CA1732746026 | SLC26A4 | c.488T= (p.Val163=) | |
7 | g.107674237A= | CA1732746028 | SLC26A4 | c.489A= (p.Val163=) | |
7 | g.107674237A>C | CA457105375 | SLC26A4 | c.489A>C (p.Val163=) | |
7 | g.107674237A>G | CA457105376 | SLC26A4 | c.489A>G (p.Val163=) | ClinVar dbSNP gnomAD v4 |
7 | g.107674237A>T | CA457105377 | SLC26A4 | c.489A>T (p.Val163=) | dbSNP |
7 | g.107674238T>A | CA368848054 | SLC26A4 | c.490T>A (p.Ser164Thr) | |
7 | g.107674238T>C | CA368848056 | SLC26A4 | c.490T>C (p.Ser164Pro) | gnomAD v4 |
7 | g.107674238T>G | CA368848058 | SLC26A4 | c.490T>G (p.Ser164Ala) | dbSNP |
7 | g.107674238T= | CA1732746033 | SLC26A4 | c.490T= (p.Ser164=) | |
7 | g.107674239C>A | CA368848059 | SLC26A4 | c.491C>A (p.Ser164Tyr) | |
7 | g.107674239C>G | CA368848066 | SLC26A4 | c.491C>G (p.Ser164Cys) |