Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107663366del | CA2695208248 | SLC26A4 | c.235del (p.Arg79GlufsTer18) | |
7 | g.107663366C>A | CA457104327 | SLC26A4 | c.235C>A (p.Arg79=) | gnomAD v4 |
7 | g.107663366C= | CA1732736038 | SLC26A4 | c.235C= (p.Arg79=) | |
7 | g.107663366C>G | CA368845461 | SLC26A4 | c.235C>G (p.Arg79Gly) | |
7 | g.107663366C>T | CA274174 | SLC26A4 | c.235C>T (p.Arg79Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.107663367G>A | CA4432405 | SLC26A4 | c.236G>A (p.Arg79Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107663367G>C | CA368845464 | SLC26A4 | c.236G>C (p.Arg79Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107663367G= | CA1732736044 | SLC26A4 | c.236G= (p.Arg79=) | |
7 | g.107663367G>T | CA368845466 | SLC26A4 | c.236G>T (p.Arg79Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107663368A= | CA1732736050 | SLC26A4 | c.237A= (p.Arg79=) | |
7 | g.107663368A>C | CA457104331 | SLC26A4 | c.237A>C (p.Arg79=) | |
7 | g.107663368A>G | CA164209121 | SLC26A4 | c.237A>G (p.Arg79=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107663368A>T | CA457104332 | SLC26A4 | c.237A>T (p.Arg79=) | |
7 | g.107663369G>A | CA164209122 | SLC26A4 | c.238G>A (p.Val80Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107663369G>C | CA368845469 | SLC26A4 | c.238G>C (p.Val80Leu) | dbSNP |
7 | g.107663369G= | CA1732736055 | SLC26A4 | c.238G= (p.Val80=) | |
7 | g.107663369G>T | CA368845470 | SLC26A4 | c.238G>T (p.Val80Phe) | dbSNP gnomAD v4 |
7 | g.107663370T>A | CA368845473 | SLC26A4 | c.239T>A (p.Val80Asp) | |
7 | g.107663370T>C | CA368845475 | SLC26A4 | c.239T>C (p.Val80Ala) | |
7 | g.107663370T>G | CA368845477 | SLC26A4 | c.239T>G (p.Val80Gly) | |
7 | g.107663371C>A | CA457104340 | SLC26A4 | c.240C>A (p.Val80=) | gnomAD v4 |
7 | g.107663371C>G | CA457104341 | SLC26A4 | c.240C>G (p.Val80=) | |
7 | g.107663371C>T | CA457104342 | SLC26A4 | c.240C>T (p.Val80=) | |
7 | g.107663372A= | CA1732736061 | SLC26A4 | c.241A= (p.Lys81=) | |
7 | g.107663372A>C | CA368845482 | SLC26A4 | c.241A>C (p.Lys81Gln) | |
7 | g.107663372A>G | CA368845481 | SLC26A4 | c.241A>G (p.Lys81Glu) | dbSNP |
7 | g.107663372A>T | CA368845479 | SLC26A4 | c.241A>T (p.Lys81Ter) | |
7 | g.107663373dup | CA2580076143 | SLC26A4 | c.242dup (p.Glu82GlyfsTer5) | ClinVar |
7 | g.107663373A= | CA1732736065 | SLC26A4 | c.242A= (p.Lys81=) | |
7 | g.107663373A>C | CA368845486 | SLC26A4 | c.242A>C (p.Lys81Thr) | |
7 | g.107663373A>G | CA368845484 | SLC26A4 | c.242A>G (p.Lys81Arg) | dbSNP gnomAD v4 |
7 | g.107663373A>T | CA368845488 | SLC26A4 | c.242A>T (p.Lys81Met) | |
7 | g.107663374G>A | CA457104346 | SLC26A4 | c.243G>A (p.Lys81=) | gnomAD v4 |
7 | g.107663374G>C | CA368845490 | SLC26A4 | c.243G>C (p.Lys81Asn) | |
7 | g.107663374G>T | CA368845491 | SLC26A4 | c.243G>T (p.Lys81Asn) | |
7 | g.107663375G>A | CA4432406 | SLC26A4 | c.244G>A (p.Glu82Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.107663375G>C | CA368845493 | SLC26A4 | c.244G>C (p.Glu82Gln) | gnomAD v4 |
7 | g.107663375G= | CA1732736068 | SLC26A4 | c.244G= (p.Glu82=) | |
7 | g.107663375G>T | CA368845495 | SLC26A4 | c.244G>T (p.Glu82Ter) | |
7 | g.107663376A>C | CA368845497 | SLC26A4 | c.245A>C (p.Glu82Ala) | |
7 | g.107663376A>G | CA368845498 | SLC26A4 | c.245A>G (p.Glu82Gly) | |
7 | g.107663376A>T | CA368845500 | SLC26A4 | c.245A>T (p.Glu82Val) | |
7 | g.107663377A>C | CA368845502 | SLC26A4 | c.246A>C (p.Glu82Asp) | |
7 | g.107663377A>G | CA457104351 | SLC26A4 | c.246A>G (p.Glu82=) | |
7 | g.107663377A>T | CA368845504 | SLC26A4 | c.246A>T (p.Glu82Asp) | |
7 | g.107663378T>A | CA368845505 | SLC26A4 | c.247T>A (p.Trp83Arg) | |
7 | g.107663378T>C | CA368845506 | SLC26A4 | c.247T>C (p.Trp83Arg) | gnomAD v4 |
7 | g.107663378T>G | CA368845509 | SLC26A4 | c.247T>G (p.Trp83Gly) | ClinVar dbSNP |
7 | g.107663378T= | CA1732736073 | SLC26A4 | c.247T= (p.Trp83=) | |
7 | g.107663379G>A | CA368845512 | SLC26A4 | c.248G>A (p.Trp83Ter) | ClinVar gnomAD v4 |