Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980357G>A | CA252992 | SLC26A2 | c.764G>A (p.Gly255Glu) c.372+2006G>A (n.372+2006G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980357G>C | CA361706213 | SLC26A2 | c.764G>C (p.Gly255Ala) c.372+2006G>C (n.372+2006G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.149980357G= | CA1590738327 | SLC26A2 | c.764G= (p.Gly255=) c.372+2006G= (n.372+2006G=) | |
5 | g.149980357G>T | CA361706215 | SLC26A2 | c.764G>T (p.Gly255Val) c.372+2006G>T (n.372+2006G>T) | |
5 | g.149980358A= | CA1590738328 | SLC26A2 | c.765A= (p.Gly255=) c.372+2007A= (n.372+2007A=) | |
5 | g.149980358A>C | CA447402091 | SLC26A2 | c.765A>C (p.Gly255=) c.372+2007A>C (n.372+2007A>C) | ClinVar dbSNP |
5 | g.149980358A>G | CA447402093 | SLC26A2 | c.765A>G (p.Gly255=) c.372+2007A>G (n.372+2007A>G) | |
5 | g.149980358A>T | CA447402092 | SLC26A2 | c.765A>T (p.Gly255=) c.372+2007A>T (n.372+2007A>T) | |
5 | g.149980359T>A | CA361706221 | SLC26A2 | c.766T>A (p.Phe256Ile) c.372+2008T>A (n.372+2008T>A) | |
5 | g.149980359T>C | CA361706219 | SLC26A2 | c.766T>C (p.Phe256Leu) c.372+2008T>C (n.372+2008T>C) | |
5 | g.149980359T>G | CA361706217 | SLC26A2 | c.766T>G (p.Phe256Val) c.372+2008T>G (n.372+2008T>G) | |
5 | g.149980360T>A | CA361706224 | SLC26A2 | c.767T>A (p.Phe256Tyr) c.372+2009T>A (n.372+2009T>A) | |
5 | g.149980360T>C | CA361706227 | SLC26A2 | c.767T>C (p.Phe256Ser) c.372+2009T>C (n.372+2009T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980360T>G | CA361706225 | SLC26A2 | c.767T>G (p.Phe256Cys) c.372+2009T>G (n.372+2009T>G) | |
5 | g.149980360T= | CA1590738329 | SLC26A2 | c.767T= (p.Phe256=) c.372+2009T= (n.372+2009T=) | |
5 | g.149980361T>A | CA361706230 | SLC26A2 | c.768T>A (p.Phe256Leu) c.372+2010T>A (n.372+2010T>A) | |
5 | g.149980361T>C | CA447402094 | SLC26A2 | c.768T>C (p.Phe256=) c.372+2010T>C (n.372+2010T>C) | |
5 | g.149980361T>G | CA361706232 | SLC26A2 | c.768T>G (p.Phe256Leu) c.372+2010T>G (n.372+2010T>G) | |
5 | g.149980362G>A | CA361706234 | SLC26A2 | c.769G>A (p.Val257Ile) c.372+2011G>A (n.372+2011G>A) | |
5 | g.149980362G>C | CA361706236 | SLC26A2 | c.769G>C (p.Val257Leu) c.372+2011G>C (n.372+2011G>C) | |
5 | g.149980362G>T | CA361706238 | SLC26A2 | c.769G>T (p.Val257Phe) c.372+2011G>T (n.372+2011G>T) | |
5 | g.149980363T>A | CA361706240 | SLC26A2 | c.770T>A (p.Val257Asp) c.372+2012T>A (n.372+2012T>A) | |
5 | g.149980363T>C | CA361706241 | SLC26A2 | c.770T>C (p.Val257Ala) c.372+2012T>C (n.372+2012T>C) | |
5 | g.149980363T>G | CA361706243 | SLC26A2 | c.770T>G (p.Val257Gly) c.372+2012T>G (n.372+2012T>G) | |
5 | g.149980364C>A | CA447402095 | SLC26A2 | c.771C>A (p.Val257=) c.372+2013C>A (n.372+2013C>A) | gnomAD v4 |
5 | g.149980364C>G | CA447402098 | SLC26A2 | c.771C>G (p.Val257=) c.372+2013C>G (n.372+2013C>G) | |
5 | g.149980364C>T | CA447402097 | SLC26A2 | c.771C>T (p.Val257=) c.372+2013C>T (n.372+2013C>T) | ClinVar dbSNP |
5 | g.149980365A>C | CA361706245 | SLC26A2 | c.772A>C (p.Thr258Pro) c.372+2014A>C (n.372+2014A>C) | gnomAD v4 |
5 | g.149980365A>G | CA361706246 | SLC26A2 | c.772A>G (p.Thr258Ala) c.372+2014A>G (n.372+2014A>G) | |
5 | g.149980365A>T | CA361706248 | SLC26A2 | c.772A>T (p.Thr258Ser) c.372+2014A>T (n.372+2014A>T) | |
5 | g.149980366C>A | CA361706251 | SLC26A2 | c.773C>A (p.Thr258Asn) c.372+2015C>A (n.372+2015C>A) | |
5 | g.149980366C>G | CA361706253 | SLC26A2 | c.773C>G (p.Thr258Ser) c.372+2015C>G (n.372+2015C>G) | |
5 | g.149980366C>T | CA361706255 | SLC26A2 | c.773C>T (p.Thr258Ile) c.372+2015C>T (n.372+2015C>T) | |
5 | g.149980367T>A | CA447402099 | SLC26A2 | c.774T>A (p.Thr258=) c.372+2016T>A (n.372+2016T>A) | gnomAD v3 gnomAD v4 |
5 | g.149980367T>C | CA447402100 | SLC26A2 | c.774T>C (p.Thr258=) c.372+2016T>C (n.372+2016T>C) | ClinVar dbSNP |
5 | g.149980367T>G | CA447402101 | SLC26A2 | c.774T>G (p.Thr258=) c.372+2016T>G (n.372+2016T>G) | |
5 | g.149980368G>A | CA361706257 | SLC26A2 | c.775G>A (p.Gly259Ser) c.372+2017G>A (n.372+2017G>A) | ClinVar dbSNP |
5 | g.149980368G>C | CA361706261 | SLC26A2 | c.775G>C (p.Gly259Arg) c.372+2017G>C (n.372+2017G>C) | |
5 | g.149980368G>T | CA361706259 | SLC26A2 | c.775G>T (p.Gly259Cys) c.372+2017G>T (n.372+2017G>T) | |
5 | g.149980369G>A | CA361706263 | SLC26A2 | c.776G>A (p.Gly259Asp) c.372+2018G>A (n.372+2018G>A) | dbSNP |
5 | g.149980369G>C | CA361706265 | SLC26A2 | c.776G>C (p.Gly259Ala) c.372+2018G>C (n.372+2018G>C) | |
5 | g.149980369G= | CA1590738330 | SLC26A2 | c.776G= (p.Gly259=) c.372+2018G= (n.372+2018G=) | |
5 | g.149980369G>T | CA3505319 | SLC26A2 | c.776G>T (p.Gly259Val) c.372+2018G>T (n.372+2018G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980370T>A | CA447402103 | SLC26A2 | c.777T>A (p.Gly259=) c.372+2019T>A (n.372+2019T>A) | |
5 | g.149980370T>C | CA447402104 | SLC26A2 | c.777T>C (p.Gly259=) c.372+2019T>C (n.372+2019T>C) | |
5 | g.149980370T>G | CA447402105 | SLC26A2 | c.777T>G (p.Gly259=) c.372+2019T>G (n.372+2019T>G) | ClinVar dbSNP gnomAD v4 |
5 | g.149980371G>A | CA361706268 | SLC26A2 | c.778G>A (p.Ala260Thr) c.372+2020G>A (n.372+2020G>A) | |
5 | g.149980371G>C | CA361706270 | SLC26A2 | c.778G>C (p.Ala260Pro) c.372+2020G>C (n.372+2020G>C) | |
5 | g.149980371G>T | CA361706272 | SLC26A2 | c.778G>T (p.Ala260Ser) c.372+2020G>T (n.372+2020G>T) | gnomAD v4 |
5 | g.149980372C>A | CA361706275 | SLC26A2 | c.779C>A (p.Ala260Asp) c.372+2021C>A (n.372+2021C>A) |