Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107715424C>A | CA368847288 | SLC26A4 | c.2321C>A (p.Ala774Asp) c.977C>A n.507C>A c.2243C>A (p.Ala748Asp) | |
7 | g.107715424C= | CA1732755312 | SLC26A4 | c.2321C= (p.Ala774=) c.977C= n.507C= c.2243C= (p.Ala748=) | |
7 | g.107715424C>G | CA368847290 | SLC26A4 | c.2321C>G (p.Ala774Gly) c.977C>G n.507C>G c.2243C>G (p.Ala748Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107715424C>T | CA368847294 | SLC26A4 | c.2321C>T (p.Ala774Val) c.977C>T n.507C>T c.2243C>T (p.Ala748Val) | gnomAD v4 |
7 | g.107715425T>A | CA457106179 | SLC26A4 | c.2322T>A (p.Ala774=) c.978T>A n.508T>A c.2244T>A (p.Ala748=) | |
7 | g.107715425T>C | CA457106180 | SLC26A4 | c.2322T>C (p.Ala774=) c.978T>C n.508T>C c.2244T>C (p.Ala748=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107715425T>G | CA457106183 | SLC26A4 | c.2322T>G (p.Ala774=) c.978T>G n.508T>G c.2244T>G (p.Ala748=) | |
7 | g.107715425T= | CA1732755313 | SLC26A4 | c.2322T= (p.Ala774=) c.978T= n.508T= c.2244T= (p.Ala748=) | |
7 | g.107715426A= | CA1732755315 | SLC26A4 | c.2323A= (p.Met775=) c.979A= n.509A= c.2245A= (p.Met749=) | |
7 | g.107715426A>C | CA368847297 | SLC26A4 | c.2323A>C (p.Met775Leu) c.979A>C n.509A>C c.2245A>C (p.Met749Leu) | |
7 | g.107715426A>G | CA368847299 | SLC26A4 | c.2323A>G (p.Met775Val) c.979A>G n.509A>G c.2245A>G (p.Met749Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107715426A>T | CA368847302 | SLC26A4 | c.2323A>T (p.Met775Leu) c.979A>T n.509A>T c.2245A>T (p.Met749Leu) | |
7 | g.107715427T>A | CA368847305 | SLC26A4 | c.2324T>A (p.Met775Lys) c.980T>A n.510T>A c.2246T>A (p.Met749Lys) | |
7 | g.107715427T>C | CA368847310 | SLC26A4 | c.2324T>C (p.Met775Thr) c.980T>C n.510T>C c.2246T>C (p.Met749Thr) | dbSNP gnomAD v4 |
7 | g.107715427T>G | CA368847307 | SLC26A4 | c.2324T>G (p.Met775Arg) c.980T>G n.510T>G c.2246T>G (p.Met749Arg) | gnomAD v4 |
7 | g.107715427T= | CA1732755317 | SLC26A4 | c.2324T= (p.Met775=) c.980T= n.510T= c.2246T= (p.Met749=) | |
7 | g.107715428G>A | CA368847313 | SLC26A4 | c.2325G>A (p.Met775Ile) c.981G>A n.511G>A c.2247G>A (p.Met749Ile) | gnomAD v4 |
7 | g.107715428G>C | CA368847319 | SLC26A4 | c.2325G>C (p.Met775Ile) c.981G>C n.511G>C c.2247G>C (p.Met749Ile) | |
7 | g.107715428G= | CA1732755318 | SLC26A4 | c.2325G= (p.Met775=) c.981G= n.511G= c.2247G= (p.Met749=) | |
7 | g.107715428G>T | CA4433127 | SLC26A4 | c.2325G>T (p.Met775Ile) c.981G>T n.511G>T c.2247G>T (p.Met749Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715429C>A | CA368847333 | SLC26A4 | c.2326C>A (p.Arg776Ser) c.982C>A n.512C>A c.2248C>A (p.Arg750Ser) | COSMIC |
7 | g.107715429C= | CA1732755320 | SLC26A4 | c.2326C= (p.Arg776=) c.982C= n.512C= c.2248C= (p.Arg750=) | |
7 | g.107715429C>G | CA368847336 | SLC26A4 | c.2326C>G (p.Arg776Gly) c.982C>G n.512C>G c.2248C>G (p.Arg750Gly) | dbSNP |
7 | g.107715429C>T | CA132715 | SLC26A4 | c.2326C>T (p.Arg776Cys) c.982C>T n.512C>T c.2248C>T (p.Arg750Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715430G>A | CA368847339 | SLC26A4 | c.2327G>A (p.Arg776His) c.983G>A n.513G>A c.2249G>A (p.Arg750His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.107715430G>C | CA368847341 | SLC26A4 | c.2327G>C (p.Arg776Pro) c.983G>C n.513G>C c.2249G>C (p.Arg750Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715430G= | CA1732755321 | SLC26A4 | c.2327G= (p.Arg776=) c.983G= n.513G= c.2249G= (p.Arg750=) | |
7 | g.107715430G>T | CA368847344 | SLC26A4 | c.2327G>T (p.Arg776Leu) c.983G>T n.513G>T c.2249G>T (p.Arg750Leu) | |
7 | g.107715431T>A | CA457106209 | SLC26A4 | c.2328T>A (p.Arg776=) c.984T>A n.514T>A c.2250T>A (p.Arg750=) | |
7 | g.107715431T>C | CA457106211 | SLC26A4 | c.2328T>C (p.Arg776=) c.984T>C n.514T>C c.2250T>C (p.Arg750=) | |
7 | g.107715431T>G | CA457106213 | SLC26A4 | c.2328T>G (p.Arg776=) c.984T>G n.514T>G c.2250T>G (p.Arg750=) | ClinVar |
7 | g.107715432A= | CA1732755322 | SLC26A4 | c.2329A= (p.Thr777=) c.985A= n.515A= c.2251A= (p.Thr751=) | |
7 | g.107715432A>C | CA368847347 | SLC26A4 | c.2329A>C (p.Thr777Pro) c.985A>C n.515A>C c.2251A>C (p.Thr751Pro) | |
7 | g.107715432A>G | CA368847349 | SLC26A4 | c.2329A>G (p.Thr777Ala) c.985A>G n.515A>G c.2251A>G (p.Thr751Ala) | dbSNP |
7 | g.107715432A>T | CA368847350 | SLC26A4 | c.2329A>T (p.Thr777Ser) c.985A>T n.515A>T c.2251A>T (p.Thr751Ser) | |
7 | g.107715433C>A | CA368847354 | SLC26A4 | c.2330C>A (p.Thr777Lys) c.986C>A n.516C>A c.2252C>A (p.Thr751Lys) | |
7 | g.107715433C= | CA1732755324 | SLC26A4 | c.2330C= (p.Thr777=) c.986C= n.516C= c.2252C= (p.Thr751=) | |
7 | g.107715433C>G | CA368847359 | SLC26A4 | c.2330C>G (p.Thr777Arg) c.986C>G n.516C>G c.2252C>G (p.Thr751Arg) | |
7 | g.107715433C>T | CA4433128 | SLC26A4 | c.2330C>T (p.Thr777Ile) c.986C>T n.516C>T c.2252C>T (p.Thr751Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715434A= | CA1732755326 | SLC26A4 | c.2331A= (p.Thr777=) c.987A= n.517A= c.2253A= (p.Thr751=) | |
7 | g.107715434A>C | CA457106224 | SLC26A4 | c.2331A>C (p.Thr777=) c.987A>C n.517A>C c.2253A>C (p.Thr751=) | |
7 | g.107715434A>G | CA457106226 | SLC26A4 | c.2331A>G (p.Thr777=) c.987A>G n.517A>G c.2253A>G (p.Thr751=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107715434A>T | CA457106228 | SLC26A4 | c.2331A>T (p.Thr777=) c.987A>T n.517A>T c.2253A>T (p.Thr751=) | gnomAD v4 |
7 | g.107715435C>A | CA368847363 | SLC26A4 | c.2332C>A (p.Leu778Ile) c.988C>A n.518C>A c.2254C>A (p.Leu752Ile) | |
7 | g.107715435C= | CA1732755328 | SLC26A4 | c.2332C= (p.Leu778=) c.988C= n.518C= c.2254C= (p.Leu752=) | |
7 | g.107715435C>G | CA368847365 | SLC26A4 | c.2332C>G (p.Leu778Val) c.988C>G n.518C>G c.2254C>G (p.Leu752Val) | gnomAD v4 |
7 | g.107715435C>T | CA368847367 | SLC26A4 | c.2332C>T (p.Leu778Phe) c.988C>T n.518C>T c.2254C>T (p.Leu752Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107715436T>A | CA368847369 | SLC26A4 | c.2333T>A (p.Leu778His) c.989T>A n.519T>A c.2255T>A (p.Leu752His) | |
7 | g.107715436T>C | CA368847371 | SLC26A4 | c.2333T>C (p.Leu778Pro) c.989T>C n.519T>C c.2255T>C (p.Leu752Pro) | |
7 | g.107715436T>G | CA368847374 | SLC26A4 | c.2333T>G (p.Leu778Arg) c.989T>G n.519T>G c.2255T>G (p.Leu752Arg) |