Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149977837C>A | CA361704288 | SLC26A2 | n.417C>A c.185C>A (p.Ser62Ter) | |
5 | g.149977837C= | CA1590737306 | SLC26A2 | n.417C= c.185C= (p.Ser62=) | |
5 | g.149977837C>G | CA16040984 | SLC26A2 | n.417C>G c.185C>G (p.Ser62Ter) | ClinVar dbSNP |
5 | g.149977837C>T | CA361704291 | SLC26A2 | n.417C>T c.185C>T (p.Ser62Leu) | gnomAD v4 |
5 | g.149977838A= | CA1590737307 | SLC26A2 | n.418A= c.186A= (p.Ser62=) | |
5 | g.149977838A>C | CA447401803 | SLC26A2 | n.418A>C c.186A>C (p.Ser62=) | |
5 | g.149977838A>G | CA447401802 | SLC26A2 | n.418A>G c.186A>G (p.Ser62=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.149977838A>T | CA447401801 | SLC26A2 | n.418A>T c.186A>T (p.Ser62=) | |
5 | g.149977839G>A | CA361704293 | SLC26A2 | n.419G>A c.187G>A (p.Asp63Asn) | |
5 | g.149977839G>C | CA361704294 | SLC26A2 | n.419G>C c.187G>C (p.Asp63His) | gnomAD v4 |
5 | g.149977839G>T | CA361704296 | SLC26A2 | n.419G>T c.187G>T (p.Asp63Tyr) | |
5 | g.149977839_149977840delinsGA | CA1590737308 | SLC26A2 | n.419_420delinsGA c.187_188delinsGA (p.Asp63=) | |
5 | g.149977840del | CA16040985 | SLC26A2 | n.420del c.188del (p.Asp63ValfsTer26) | ClinVar dbSNP |
5 | g.149977840A= | CA1590737309 | SLC26A2 | n.420A= c.188A= (p.Asp63=) | |
5 | g.149977840A>C | CA361704298 | SLC26A2 | n.420A>C c.188A>C (p.Asp63Ala) | |
5 | g.149977840A>G | CA361704300 | SLC26A2 | n.420A>G c.188A>G (p.Asp63Gly) | ClinVar dbSNP gnomAD v4 |
5 | g.149977840A>T | CA361704301 | SLC26A2 | n.420A>T c.188A>T (p.Asp63Val) | dbSNP |
5 | g.149977841T>A | CA361704303 | SLC26A2 | n.421T>A c.189T>A (p.Asp63Glu) | |
5 | g.149977841T>C | CA447401804 | SLC26A2 | n.421T>C c.189T>C (p.Asp63=) | dbSNP |
5 | g.149977841T>G | CA361704305 | SLC26A2 | n.421T>G c.189T>G (p.Asp63Glu) | |
5 | g.149977842A>C | CA361704307 | SLC26A2 | n.422A>C c.190A>C (p.Thr64Pro) | |
5 | g.149977842A>G | CA361704309 | SLC26A2 | n.422A>G c.190A>G (p.Thr64Ala) | |
5 | g.149977842A>T | CA361704308 | SLC26A2 | n.422A>T c.190A>T (p.Thr64Ser) | |
5 | g.149977843C>A | CA361704310 | SLC26A2 | n.423C>A c.191C>A (p.Thr64Lys) | |
5 | g.149977843C= | CA1590737310 | SLC26A2 | n.423C= c.191C= (p.Thr64=) | |
5 | g.149977843C>G | CA361704314 | SLC26A2 | n.423C>G c.191C>G (p.Thr64Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149977843C>T | CA361704312 | SLC26A2 | n.423C>T c.191C>T (p.Thr64Ile) | |
5 | g.149977844A>C | CA447401805 | SLC26A2 | n.424A>C c.192A>C (p.Thr64=) | |
5 | g.149977844A>G | CA447401806 | SLC26A2 | n.424A>G c.192A>G (p.Thr64=) | |
5 | g.149977844A>T | CA447401807 | SLC26A2 | n.424A>T c.192A>T (p.Thr64=) | |
5 | g.149977845A= | CA1590737311 | SLC26A2 | n.425A= c.193A= (p.Asn65=) | |
5 | g.149977845A>C | CA361704315 | SLC26A2 | n.425A>C c.193A>C (p.Asn65His) | |
5 | g.149977845A>G | CA3505217 | SLC26A2 | n.425A>G c.193A>G (p.Asn65Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149977845A>T | CA361704318 | SLC26A2 | n.425A>T c.193A>T (p.Asn65Tyr) | |
5 | g.149977846A>C | CA361704319 | SLC26A2 | n.426A>C c.194A>C (p.Asn65Thr) | |
5 | g.149977846A>G | CA361704321 | SLC26A2 | n.426A>G c.194A>G (p.Asn65Ser) | |
5 | g.149977846A>T | CA361704322 | SLC26A2 | n.426A>T c.194A>T (p.Asn65Ile) | |
5 | g.149977847C>A | CA361704325 | SLC26A2 | n.427C>A c.195C>A (p.Asn65Lys) | |
5 | g.149977847C>G | CA361704326 | SLC26A2 | n.427C>G c.195C>G (p.Asn65Lys) | |
5 | g.149977847C>T | CA447401808 | SLC26A2 | n.427C>T c.195C>T (p.Asn65=) | |
5 | g.149977848T>A | CA361704327 | SLC26A2 | n.428T>A c.196T>A (p.Phe66Ile) | |
5 | g.149977848T>C | CA3505218 | SLC26A2 | n.428T>C c.196T>C (p.Phe66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149977848T>G | CA361704329 | SLC26A2 | n.428T>G c.196T>G (p.Phe66Val) | gnomAD v4 |
5 | g.149977848T= | CA1590737312 | SLC26A2 | n.428T= c.196T= (p.Phe66=) | |
5 | g.149977849T>A | CA361704333 | SLC26A2 | n.429T>A c.197T>A (p.Phe66Tyr) | |
5 | g.149977849T>C | CA361704331 | SLC26A2 | n.429T>C c.197T>C (p.Phe66Ser) | |
5 | g.149977849T>G | CA361704332 | SLC26A2 | n.429T>G c.197T>G (p.Phe66Cys) | |
5 | g.149977850C>A | CA361704334 | SLC26A2 | n.430C>A c.198C>A (p.Phe66Leu) | |
5 | g.149977850C>G | CA361704336 | SLC26A2 | n.430C>G c.198C>G (p.Phe66Leu) | |
5 | g.149977850C>T | CA447401809 | SLC26A2 | n.430C>T c.198C>T (p.Phe66=) |