Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107663311_107663312del | CA1732735881 | SLC26A4 | c.180_181del (p.Arg60SerfsTer26) | dbSNP |
7 | g.107663312G>A | CA368845330 | SLC26A4 | c.181G>A (p.Ala61Thr) | |
7 | g.107663312G>C | CA368845331 | SLC26A4 | c.181G>C (p.Ala61Pro) | gnomAD v4 |
7 | g.107663312G= | CA1732735886 | SLC26A4 | c.181G= (p.Ala61=) | |
7 | g.107663312G>T | CA164209004 | SLC26A4 | c.181G>T (p.Ala61Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.107663313C>A | CA4432390 | SLC26A4 | c.182C>A (p.Ala61Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107663313C= | CA1732735892 | SLC26A4 | c.182C= (p.Ala61=) | |
7 | g.107663313C>G | CA4432389 | SLC26A4 | c.182C>G (p.Ala61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107663313C>T | CA368845332 | SLC26A4 | c.182C>T (p.Ala61Val) | gnomAD v4 |
7 | g.107663314C>A | CA457104265 | SLC26A4 | c.183C>A (p.Ala61=) | gnomAD v4 |
7 | g.107663314C= | CA1732735901 | SLC26A4 | c.183C= (p.Ala61=) | |
7 | g.107663314C>G | CA457104266 | SLC26A4 | c.183C>G (p.Ala61=) | |
7 | g.107663314C>T | CA4432391 | SLC26A4 | c.183C>T (p.Ala61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107663315T>A | CA368845333 | SLC26A4 | c.184T>A (p.Phe62Ile) | |
7 | g.107663315T>C | CA164209024 | SLC26A4 | c.184T>C (p.Phe62Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107663315T>G | CA368845334 | SLC26A4 | c.184T>G (p.Phe62Val) | |
7 | g.107663315T= | CA1732735907 | SLC26A4 | c.184T= (p.Phe62=) | |
7 | g.107663316T>A | CA368845336 | SLC26A4 | c.185T>A (p.Phe62Tyr) | |
7 | g.107663316T>C | CA368845337 | SLC26A4 | c.185T>C (p.Phe62Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107663316T>G | CA368845335 | SLC26A4 | c.185T>G (p.Phe62Cys) | |
7 | g.107663316T= | CA1732735912 | SLC26A4 | c.185T= (p.Phe62=) | |
7 | g.107663317T>A | CA368845339 | SLC26A4 | c.186T>A (p.Phe62Leu) | |
7 | g.107663317T>C | CA457104268 | SLC26A4 | c.186T>C (p.Phe62=) | |
7 | g.107663317T>G | CA368845338 | SLC26A4 | c.186T>G (p.Phe62Leu) | |
7 | g.107663318G>A | CA164209037 | SLC26A4 | c.187G>A (p.Gly63Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107663318G>C | CA368845340 | SLC26A4 | c.187G>C (p.Gly63Arg) | |
7 | g.107663318G= | CA1732735915 | SLC26A4 | c.187G= (p.Gly63=) | |
7 | g.107663318G>T | CA368845341 | SLC26A4 | c.187G>T (p.Gly63Cys) | |
7 | g.107663319G>A | CA368845342 | SLC26A4 | c.188G>A (p.Gly63Asp) | gnomAD v4 |
7 | g.107663319G>C | CA4432392 | SLC26A4 | c.188G>C (p.Gly63Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107663319G= | CA1732735920 | SLC26A4 | c.188G= (p.Gly63=) | |
7 | g.107663319G>T | CA368845343 | SLC26A4 | c.188G>T (p.Gly63Val) | gnomAD v4 COSMIC |
7 | g.107663320T>A | CA457104270 | SLC26A4 | c.189T>A (p.Gly63=) | |
7 | g.107663320T>C | CA457104271 | SLC26A4 | c.189T>C (p.Gly63=) | gnomAD v4 |
7 | g.107663320T>G | CA457104272 | SLC26A4 | c.189T>G (p.Gly63=) | |
7 | g.107663321G>A | CA368845346 | SLC26A4 | c.190G>A (p.Val64Met) | ClinVar dbSNP gnomAD v4 |
7 | g.107663321G>C | CA368845344 | SLC26A4 | c.190G>C (p.Val64Leu) | |
7 | g.107663321G= | CA1732735926 | SLC26A4 | c.190G= (p.Val64=) | |
7 | g.107663321G>T | CA368845345 | SLC26A4 | c.190G>T (p.Val64Leu) | |
7 | g.107663322T>A | CA4432393 | SLC26A4 | c.191T>A (p.Val64Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107663322T>C | CA368845347 | SLC26A4 | c.191T>C (p.Val64Ala) | |
7 | g.107663322T>G | CA368845348 | SLC26A4 | c.191T>G (p.Val64Gly) | |
7 | g.107663322T= | CA1732735932 | SLC26A4 | c.191T= (p.Val64=) | |
7 | g.107663323G>A | CA457104274 | SLC26A4 | c.192G>A (p.Val64=) | |
7 | g.107663323G>C | CA457104275 | SLC26A4 | c.192G>C (p.Val64=) | |
7 | g.107663323G>T | CA457104277 | SLC26A4 | c.192G>T (p.Val64=) | gnomAD v4 |
7 | g.107663324C>A | CA368845349 | SLC26A4 | c.193C>A (p.Leu65Ile) | |
7 | g.107663324C>G | CA368845350 | SLC26A4 | c.193C>G (p.Leu65Val) | gnomAD v4 COSMIC |
7 | g.107663324C>T | CA457104278 | SLC26A4 | c.193C>T (p.Leu65=) | ClinVar dbSNP gnomAD v4 |
7 | g.107663325T>A | CA368845351 | SLC26A4 | c.194T>A (p.Leu65Gln) |