| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107661694_107661699del | CA658821332 | SLC26A4,SLC26A4-AS1 | c.53_58del (p.Cys18_Ser19del) n.105_110del | ClinVar dbSNP |
| 7 | g.107661695_107661696delinsCA | CA1732727154 | SLC26A4,SLC26A4-AS1 | c.54_55delinsCA (p.Cys18=) n.103_104delinsTG | |
| 7 | g.107661696del | CA16041099 | SLC26A4,SLC26A4-AS1 | c.55del (p.Ser19AlafsTer?) n.103del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661696A>C | CA368844840 | SLC26A4,SLC26A4-AS1 | c.55A>C (p.Ser19Arg) n.103T>G | |
| 7 | g.107661696A>G | CA368844841 | SLC26A4,SLC26A4-AS1 | c.55A>G (p.Ser19Gly) n.103T>C | gnomAD v4 |
| 7 | g.107661696A>T | CA368844842 | SLC26A4,SLC26A4-AS1 | c.55A>T (p.Ser19Cys) n.103T>A | gnomAD v4 |
| 7 | g.107661697G>A | CA368844844 | SLC26A4,SLC26A4-AS1 | c.56G>A (p.Ser19Asn) n.102C>T | |
| 7 | g.107661697G>C | CA368844846 | SLC26A4,SLC26A4-AS1 | c.56G>C (p.Ser19Thr) n.102C>G | |
| 7 | g.107661697G>T | CA368844850 | SLC26A4,SLC26A4-AS1 | c.56G>T (p.Ser19Ile) n.102C>A | gnomAD v4 |
| 7 | g.107661698C>A | CA368844852 | SLC26A4,SLC26A4-AS1 | c.57C>A (p.Ser19Arg) n.101G>T | gnomAD v4 |
| 7 | g.107661698C= | CA1732727159 | SLC26A4,SLC26A4-AS1 | c.57C= (p.Ser19=) n.101G= | |
| 7 | g.107661698C>G | CA368844855 | SLC26A4,SLC26A4-AS1 | c.57C>G (p.Ser19Arg) n.101G>C | |
| 7 | g.107661698C>T | CA457104142 | SLC26A4,SLC26A4-AS1 | c.57C>T (p.Ser19=) n.101G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661699T>A | CA368844858 | SLC26A4,SLC26A4-AS1 | c.58T>A (p.Tyr20Asn) n.100A>T | gnomAD v4 |
| 7 | g.107661699T>C | CA368844863 | SLC26A4,SLC26A4-AS1 | c.58T>C (p.Tyr20His) n.100A>G | gnomAD v4 |
| 7 | g.107661699T>G | CA368844865 | SLC26A4,SLC26A4-AS1 | c.58T>G (p.Tyr20Asp) n.100A>C | |
| 7 | g.107661700A>C | CA368844874 | SLC26A4,SLC26A4-AS1 | c.59A>C (p.Tyr20Ser) n.99T>G | |
| 7 | g.107661700A>G | CA368844876 | SLC26A4,SLC26A4-AS1 | c.59A>G (p.Tyr20Cys) n.99T>C | |
| 7 | g.107661700A>T | CA368844872 | SLC26A4,SLC26A4-AS1 | c.59A>T (p.Tyr20Phe) n.99T>A | gnomAD v4 |
| 7 | g.107661701C>A | CA368844877 | SLC26A4,SLC26A4-AS1 | c.60C>A (p.Tyr20Ter) n.98G>T | gnomAD v4 |
| 7 | g.107661701C>G | CA368844879 | SLC26A4,SLC26A4-AS1 | c.60C>G (p.Tyr20Ter) n.98G>C | |
| 7 | g.107661701C>T | CA457104143 | SLC26A4,SLC26A4-AS1 | c.60C>T (p.Tyr20=) n.98G>A | gnomAD v4 COSMIC |
| 7 | g.107661702A= | CA1732727162 | SLC26A4,SLC26A4-AS1 | c.61A= (p.Met21=) n.97T= | |
| 7 | g.107661702A>C | CA368844886 | SLC26A4,SLC26A4-AS1 | c.61A>C (p.Met21Leu) n.97T>G | |
| 7 | g.107661702A>G | CA4432355 | SLC26A4,SLC26A4-AS1 | c.61A>G (p.Met21Val) n.97T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661702A>T | CA368844895 | SLC26A4,SLC26A4-AS1 | c.61A>T (p.Met21Leu) n.97T>A | gnomAD v4 |
| 7 | g.107661702dup | CA2684465723 | SLC26A4,SLC26A4-AS1 | c.61dup (p.Met21AsnfsTer?) n.97dup | gnomAD v4 |
| 7 | g.107661703del | CA2578988535 | SLC26A4,SLC26A4-AS1 | c.62del (p.Met21ArgfsTer?) n.96del | |
| 7 | g.107661703T>A | CA368844905 | SLC26A4,SLC26A4-AS1 | c.62T>A (p.Met21Lys) n.96A>T | gnomAD v4 |
| 7 | g.107661703T>C | CA368844900 | SLC26A4,SLC26A4-AS1 | c.62T>C (p.Met21Thr) n.96A>G | gnomAD v4 |
| 7 | g.107661703T>G | CA368844902 | SLC26A4,SLC26A4-AS1 | c.62T>G (p.Met21Arg) n.96A>C | gnomAD v4 |
| 7 | g.107661704G>A | CA368844907 | SLC26A4,SLC26A4-AS1 | c.63G>A (p.Met21Ile) n.95C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107661704G>C | CA368844908 | SLC26A4,SLC26A4-AS1 | c.63G>C (p.Met21Ile) n.95C>G | |
| 7 | g.107661704G= | CA1732727165 | SLC26A4,SLC26A4-AS1 | c.63G= (p.Met21=) n.95C= | |
| 7 | g.107661704G>T | CA368844909 | SLC26A4,SLC26A4-AS1 | c.63G>T (p.Met21Ile) n.95C>A | gnomAD v4 |
| 7 | g.107661705G>A | CA368844912 | SLC26A4,SLC26A4-AS1 | c.64G>A (p.Val22Met) n.94C>T | gnomAD v4 |
| 7 | g.107661705G>C | CA368844916 | SLC26A4,SLC26A4-AS1 | c.64G>C (p.Val22Leu) n.94C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661705G= | CA1732727167 | SLC26A4,SLC26A4-AS1 | c.64G= (p.Val22=) n.94C= | |
| 7 | g.107661705G>T | CA368844919 | SLC26A4,SLC26A4-AS1 | c.64G>T (p.Val22Leu) n.94C>A | gnomAD v4 |
| 7 | g.107661706T>A | CA368844927 | SLC26A4,SLC26A4-AS1 | c.65T>A (p.Val22Glu) n.93A>T | gnomAD v4 |
| 7 | g.107661706T>C | CA368844929 | SLC26A4,SLC26A4-AS1 | c.65T>C (p.Val22Ala) n.93A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107661706T>G | CA368844926 | SLC26A4,SLC26A4-AS1 | c.65T>G (p.Val22Gly) n.93A>C | |
| 7 | g.107661706T= | CA1732727169 | SLC26A4,SLC26A4-AS1 | c.65T= (p.Val22=) n.93A= | |
| 7 | g.107661706dup | CA2695208240 | SLC26A4,SLC26A4-AS1 | c.65dup (p.Ser23ValfsTer?) n.93dup | |
| 7 | g.107661707G>A | CA457104148 | SLC26A4,SLC26A4-AS1 | c.66G>A (p.Val22=) n.92C>T | ClinVar gnomAD v4 |
| 7 | g.107661707G>C | CA457104149 | SLC26A4,SLC26A4-AS1 | c.66G>C (p.Val22=) n.92C>G | |
| 7 | g.107661707G= | CA1732727171 | SLC26A4,SLC26A4-AS1 | c.66G= (p.Val22=) n.92C= | |
| 7 | g.107661707G>T | CA4432356 | SLC26A4,SLC26A4-AS1 | c.66G>T (p.Val22=) n.92C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107661708T>A | CA368844935 | SLC26A4,SLC26A4-AS1 | c.67T>A (p.Ser23Thr) n.91A>T | |
| 7 | g.107661708T>C | CA368844939 | SLC26A4,SLC26A4-AS1 | c.67T>C (p.Ser23Pro) n.91A>G | gnomAD v4 |