Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107715408_107715418del | CA2684469236 | SLC26A4 | c.2320-15_2320-5del (n.2320-15_2320-5del) c.976-15_976-5del n.506-15_506-5del c.2242-15_2242-5del (n.2242-15_2242-5del) | gnomAD v4 |
7 | g.107715416T>C | CA2580076280 | SLC26A4 | c.2320-7T>C (n.2320-7T>C) c.976-7T>C n.506-7T>C c.2242-7T>C (n.2242-7T>C) | ClinVar |
7 | g.107715417C>A | CA1732755301 | SLC26A4 | c.2320-6C>A (n.2320-6C>A) c.976-6C>A n.506-6C>A c.2242-6C>A (n.2242-6C>A) | dbSNP gnomAD v4 |
7 | g.107715417C= | CA1732755302 | SLC26A4 | c.2320-6C= (n.2320-6C=) c.976-6C= n.506-6C= c.2242-6C= (n.2242-6C=) | |
7 | g.107715418C= | CA1732755303 | SLC26A4 | c.2320-5C= (n.2320-5C=) c.976-5C= n.506-5C= c.2242-5C= (n.2242-5C=) | |
7 | g.107715418C>G | CA4433125 | SLC26A4 | c.2320-5C>G (n.2320-5C>G) c.976-5C>G n.506-5C>G c.2242-5C>G (n.2242-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715418C>T | CA1732755304 | SLC26A4 | c.2320-5C>T (n.2320-5C>T) c.976-5C>T n.506-5C>T c.2242-5C>T (n.2242-5C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.107715419A= | CA1732755306 | SLC26A4 | c.2320-4A= (n.2320-4A=) c.976-4A= n.506-4A= c.2242-4A= (n.2242-4A=) | |
7 | g.107715419A>C | CA178002 | SLC26A4 | c.2320-4A>C (n.2320-4A>C) c.976-4A>C n.506-4A>C c.2242-4A>C (n.2242-4A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107715419A>G | CA10625018 | SLC26A4 | c.2320-4A>G (n.2320-4A>G) c.976-4A>G n.506-4A>G c.2242-4A>G (n.2242-4A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.107715420C= | CA1732755307 | SLC26A4 | c.2320-3C= (n.2320-3C=) c.976-3C= n.506-3C= c.2242-3C= (n.2242-3C=) | |
7 | g.107715420C>T | CA4433126 | SLC26A4 | c.2320-3C>T (n.2320-3C>T) c.976-3C>T n.506-3C>T c.2242-3C>T (n.2242-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107715421A= | CA1732755309 | SLC26A4 | c.2320-2A= (n.2320-2A=) c.976-2A= n.506-2A= c.2242-2A= (n.2242-2A=) | |
7 | g.107715421A>C | CA368847261 | SLC26A4 | c.2320-2A>C (n.2320-2A>C) c.976-2A>C n.506-2A>C c.2242-2A>C (n.2242-2A>C) | |
7 | g.107715421A>G | CA368847264 | SLC26A4 | c.2320-2A>G (n.2320-2A>G) c.976-2A>G n.506-2A>G c.2242-2A>G (n.2242-2A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107715421A>T | CA368847267 | SLC26A4 | c.2320-2A>T (n.2320-2A>T) c.976-2A>T n.506-2A>T c.2242-2A>T (n.2242-2A>T) | gnomAD v4 |
7 | g.107715422G>A | CA368847270 | SLC26A4 | c.2320-1G>A (n.2320-1G>A) c.976-1G>A n.506-1G>A c.2242-1G>A (n.2242-1G>A) | ClinVar dbSNP |
7 | g.107715422G>C | CA368847273 | SLC26A4 | c.2320-1G>C (n.2320-1G>C) c.976-1G>C n.506-1G>C c.2242-1G>C (n.2242-1G>C) | |
7 | g.107715422G= | CA1732755311 | SLC26A4 | c.2320-1G= (n.2320-1G=) c.976-1G= n.506-1G= c.2242-1G= (n.2242-1G=) | |
7 | g.107715422G>T | CA368847276 | SLC26A4 | c.2320-1G>T (n.2320-1G>T) c.976-1G>T n.506-1G>T c.2242-1G>T (n.2242-1G>T) | |
7 | g.107715423G>A | CA368847285 | SLC26A4 | c.2320G>A (p.Ala774Thr) c.976G>A n.506G>A c.2242G>A (p.Ala748Thr) | |
7 | g.107715423G>C | CA368847282 | SLC26A4 | c.2320G>C (p.Ala774Pro) c.976G>C n.506G>C c.2242G>C (p.Ala748Pro) | |
7 | g.107715423G>T | CA368847280 | SLC26A4 | c.2320G>T (p.Ala774Ser) c.976G>T n.506G>T c.2242G>T (p.Ala748Ser) | |
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=) |