| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980341G>A | CA361706176 | SLC26A2 | c.748G>A (p.Asp250Asn) c.372+1990G>A (n.372+1990G>A) | |
| 5 | g.149980341G>C | CA361706177 | SLC26A2 | c.748G>C (p.Asp250His) c.372+1990G>C (n.372+1990G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980341G= | CA1590738319 | SLC26A2 | c.748G= (p.Asp250=) c.372+1990G= (n.372+1990G=) | |
| 5 | g.149980341G>T | CA361706178 | SLC26A2 | c.748G>T (p.Asp250Tyr) c.372+1990G>T (n.372+1990G>T) | |
| 5 | g.149980342A>C | CA361706179 | SLC26A2 | c.749A>C (p.Asp250Ala) c.372+1991A>C (n.372+1991A>C) | |
| 5 | g.149980342A>G | CA361706180 | SLC26A2 | c.749A>G (p.Asp250Gly) c.372+1991A>G (n.372+1991A>G) | |
| 5 | g.149980342A>T | CA361706181 | SLC26A2 | c.749A>T (p.Asp250Val) c.372+1991A>T (n.372+1991A>T) | ClinVar dbSNP |
| 5 | g.149980343T>A | CA361706182 | SLC26A2 | c.750T>A (p.Asp250Glu) c.372+1992T>A (n.372+1992T>A) | |
| 5 | g.149980343T>C | CA447402076 | SLC26A2 | c.750T>C (p.Asp250=) c.372+1992T>C (n.372+1992T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980343T>G | CA361706183 | SLC26A2 | c.750T>G (p.Asp250Glu) c.372+1992T>G (n.372+1992T>G) | |
| 5 | g.149980343T= | CA1590738320 | SLC26A2 | c.750T= (p.Asp250=) c.372+1992T= (n.372+1992T=) | |
| 5 | g.149980344G>A | CA361706184 | SLC26A2 | c.751G>A (p.Ala251Thr) c.372+1993G>A (n.372+1993G>A) | gnomAD v4 |
| 5 | g.149980344G>C | CA361706185 | SLC26A2 | c.751G>C (p.Ala251Pro) c.372+1993G>C (n.372+1993G>C) | |
| 5 | g.149980344G= | CA1590738321 | SLC26A2 | c.751G= (p.Ala251=) c.372+1993G= (n.372+1993G=) | |
| 5 | g.149980344G>T | CA361706186 | SLC26A2 | c.751G>T (p.Ala251Ser) c.372+1993G>T (n.372+1993G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980345C>A | CA361706189 | SLC26A2 | c.752C>A (p.Ala251Asp) c.372+1994C>A (n.372+1994C>A) | |
| 5 | g.149980345C>G | CA361706188 | SLC26A2 | c.752C>G (p.Ala251Gly) c.372+1994C>G (n.372+1994C>G) | |
| 5 | g.149980345C>T | CA361706187 | SLC26A2 | c.752C>T (p.Ala251Val) c.372+1994C>T (n.372+1994C>T) | |
| 5 | g.149980346C>A | CA447402078 | SLC26A2 | c.753C>A (p.Ala251=) c.372+1995C>A (n.372+1995C>A) | |
| 5 | g.149980346C>G | CA447402079 | SLC26A2 | c.753C>G (p.Ala251=) c.372+1995C>G (n.372+1995C>G) | |
| 5 | g.149980346C>T | CA447402080 | SLC26A2 | c.753C>T (p.Ala251=) c.372+1995C>T (n.372+1995C>T) | |
| 5 | g.149980347T>A | CA361706190 | SLC26A2 | c.754T>A (p.Leu252Met) c.372+1996T>A (n.372+1996T>A) | |
| 5 | g.149980347T>C | CA447402081 | SLC26A2 | c.754T>C (p.Leu252=) c.372+1996T>C (n.372+1996T>C) | |
| 5 | g.149980347T>G | CA361706191 | SLC26A2 | c.754T>G (p.Leu252Val) c.372+1996T>G (n.372+1996T>G) | |
| 5 | g.149980348T>A | CA361706192 | SLC26A2 | c.755T>A (p.Leu252Ter) c.372+1997T>A (n.372+1997T>A) | |
| 5 | g.149980348T>C | CA361706193 | SLC26A2 | c.755T>C (p.Leu252Ser) c.372+1997T>C (n.372+1997T>C) | |
| 5 | g.149980348T>G | CA361706194 | SLC26A2 | c.755T>G (p.Leu252Trp) c.372+1997T>G (n.372+1997T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980348T= | CA1590738322 | SLC26A2 | c.755T= (p.Leu252=) c.372+1997T= (n.372+1997T=) | |
| 5 | g.149980349G>A | CA3505318 | SLC26A2 | c.756G>A (p.Leu252=) c.372+1998G>A (n.372+1998G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980349G>C | CA361706195 | SLC26A2 | c.756G>C (p.Leu252Phe) c.372+1998G>C (n.372+1998G>C) | |
| 5 | g.149980349G= | CA1590738323 | SLC26A2 | c.756G= (p.Leu252=) c.372+1998G= (n.372+1998G=) | |
| 5 | g.149980349G>T | CA361706196 | SLC26A2 | c.756G>T (p.Leu252Phe) c.372+1998G>T (n.372+1998G>T) | |
| 5 | g.149980350C>A | CA361706197 | SLC26A2 | c.757C>A (p.Leu253Met) c.372+1999C>A (n.372+1999C>A) | |
| 5 | g.149980350C>G | CA361706198 | SLC26A2 | c.757C>G (p.Leu253Val) c.372+1999C>G (n.372+1999C>G) | |
| 5 | g.149980350C>T | CA447402083 | SLC26A2 | c.757C>T (p.Leu253=) c.372+1999C>T (n.372+1999C>T) | COSMIC |
| 5 | g.149980351T>A | CA361706199 | SLC26A2 | c.758T>A (p.Leu253Gln) c.372+2000T>A (n.372+2000T>A) | ClinVar dbSNP |
| 5 | g.149980351T>C | CA361706200 | SLC26A2 | c.758T>C (p.Leu253Pro) c.372+2000T>C (n.372+2000T>C) | dbSNP |
| 5 | g.149980351T>G | CA361706201 | SLC26A2 | c.758T>G (p.Leu253Arg) c.372+2000T>G (n.372+2000T>G) | |
| 5 | g.149980351T= | CA1590738324 | SLC26A2 | c.758T= (p.Leu253=) c.372+2000T= (n.372+2000T=) | |
| 5 | g.149980352G>A | CA447402084 | SLC26A2 | c.759G>A (p.Leu253=) c.372+2001G>A (n.372+2001G>A) | ClinVar dbSNP |
| 5 | g.149980352G>C | CA447402085 | SLC26A2 | c.759G>C (p.Leu253=) c.372+2001G>C (n.372+2001G>C) | |
| 5 | g.149980352G>T | CA447402086 | SLC26A2 | c.759G>T (p.Leu253=) c.372+2001G>T (n.372+2001G>T) | |
| 5 | g.149980353A>C | CA361706204 | SLC26A2 | c.760A>C (p.Ser254Arg) c.372+2002A>C (n.372+2002A>C) | |
| 5 | g.149980353A>G | CA361706202 | SLC26A2 | c.760A>G (p.Ser254Gly) c.372+2002A>G (n.372+2002A>G) | |
| 5 | g.149980353A>T | CA361706203 | SLC26A2 | c.760A>T (p.Ser254Cys) c.372+2002A>T (n.372+2002A>T) | |
| 5 | g.149980354G>A | CA361706205 | SLC26A2 | c.761G>A (p.Ser254Asn) c.372+2003G>A (n.372+2003G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980354G>C | CA361706206 | SLC26A2 | c.761G>C (p.Ser254Thr) c.372+2003G>C (n.372+2003G>C) | |
| 5 | g.149980354G= | CA1590738325 | SLC26A2 | c.761G= (p.Ser254=) c.372+2003G= (n.372+2003G=) | |
| 5 | g.149980354G>T | CA361706207 | SLC26A2 | c.761G>T (p.Ser254Ile) c.372+2003G>T (n.372+2003G>T) | COSMIC |
| 5 | g.149980355T>A | CA361706208 | SLC26A2 | c.762T>A (p.Ser254Arg) c.372+2004T>A (n.372+2004T>A) | dbSNP |
| 5 | g.149980355T>C | CA447402090 | SLC26A2 | c.762T>C (p.Ser254=) c.372+2004T>C (n.372+2004T>C) | |
| 5 | g.149980355T>G | CA361706209 | SLC26A2 | c.762T>G (p.Ser254Arg) c.372+2004T>G (n.372+2004T>G) | |
| 5 | g.149980355T= | CA1590738326 | SLC26A2 | c.762T= (p.Ser254=) c.372+2004T= (n.372+2004T=) | |
| 5 | g.149980356G>A | CA361706210 | SLC26A2 | c.763G>A (p.Gly255Arg) c.372+2005G>A (n.372+2005G>A) | |
| 5 | g.149980356G>C | CA361706211 | SLC26A2 | c.763G>C (p.Gly255Arg) c.372+2005G>C (n.372+2005G>C) | |
| 5 | g.149980356G>T | CA361706212 | SLC26A2 | c.763G>T (p.Gly255Ter) c.372+2005G>T (n.372+2005G>T) | |
| 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) | |
| 5 | g.149980372C= | CA1590738331 | SLC26A2 | c.779C= (p.Ala260=) c.372+2021C= (n.372+2021C=) | |
| 5 | g.149980372C>G | CA361706277 | SLC26A2 | c.779C>G (p.Ala260Gly) c.372+2021C>G (n.372+2021C>G) | gnomAD v4 |
| 5 | g.149980372C>T | CA3505320 | SLC26A2 | c.779C>T (p.Ala260Val) c.372+2021C>T (n.372+2021C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.149980373C>A | CA447402106 | SLC26A2 | c.780C>A (p.Ala260=) c.372+2022C>A (n.372+2022C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980373C= | CA1590738332 | SLC26A2 | c.780C= (p.Ala260=) c.372+2022C= (n.372+2022C=) | |
| 5 | g.149980373C>G | CA447402107 | SLC26A2 | c.780C>G (p.Ala260=) c.372+2022C>G (n.372+2022C>G) | |
| 5 | g.149980373C>T | CA447402109 | SLC26A2 | c.780C>T (p.Ala260=) c.372+2022C>T (n.372+2022C>T) | |
| 5 | g.149980374T>A | CA361706283 | SLC26A2 | c.781T>A (p.Ser261Thr) c.372+2023T>A (n.372+2023T>A) | dbSNP |
| 5 | g.149980374T>C | CA361706285 | SLC26A2 | c.781T>C (p.Ser261Pro) c.372+2023T>C (n.372+2023T>C) | |
| 5 | g.149980374T>G | CA361706281 | SLC26A2 | c.781T>G (p.Ser261Ala) c.372+2023T>G (n.372+2023T>G) | |
| 5 | g.149980374T= | CA1590738333 | SLC26A2 | c.781T= (p.Ser261=) c.372+2023T= (n.372+2023T=) | |
| 5 | g.149980375C>A | CA361706286 | SLC26A2 | c.782C>A (p.Ser261Tyr) c.372+2024C>A (n.372+2024C>A) | |
| 5 | g.149980375C= | CA1590738334 | SLC26A2 | c.782C= (p.Ser261=) c.372+2024C= (n.372+2024C=) | |
| 5 | g.149980375C>G | CA3505321 | SLC26A2 | c.782C>G (p.Ser261Cys) c.372+2024C>G (n.372+2024C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980375C>T | CA361706287 | SLC26A2 | c.782C>T (p.Ser261Phe) c.372+2024C>T (n.372+2024C>T) | |
| 5 | g.149980376C>A | CA447402112 | SLC26A2 | c.783C>A (p.Ser261=) c.372+2025C>A (n.372+2025C>A) | |
| 5 | g.149980376C>G | CA447402113 | SLC26A2 | c.783C>G (p.Ser261=) c.372+2025C>G (n.372+2025C>G) | |
| 5 | g.149980376C>T | CA447402114 | SLC26A2 | c.783C>T (p.Ser261=) c.372+2025C>T (n.372+2025C>T) | gnomAD v4 |
| 5 | g.149980377T>A | CA361706288 | SLC26A2 | c.784T>A (p.Phe262Ile) c.372+2026T>A (n.372+2026T>A) | |
| 5 | g.149980377T>C | CA361706289 | SLC26A2 | c.784T>C (p.Phe262Leu) c.372+2026T>C (n.372+2026T>C) | |
| 5 | g.149980377T>G | CA361706290 | SLC26A2 | c.784T>G (p.Phe262Val) c.372+2026T>G (n.372+2026T>G) | |
| 5 | g.149980378T>A | CA361706291 | SLC26A2 | c.785T>A (p.Phe262Tyr) c.372+2027T>A (n.372+2027T>A) | |
| 5 | g.149980378T>C | CA361706292 | SLC26A2 | c.785T>C (p.Phe262Ser) c.372+2027T>C (n.372+2027T>C) | |
| 5 | g.149980378T>G | CA361706293 | SLC26A2 | c.785T>G (p.Phe262Cys) c.372+2027T>G (n.372+2027T>G) | |
| 5 | g.149980379C>A | CA361706294 | SLC26A2 | c.786C>A (p.Phe262Leu) c.372+2028C>A (n.372+2028C>A) | |
| 5 | g.149980379C= | CA1590738335 | SLC26A2 | c.786C= (p.Phe262=) c.372+2028C= (n.372+2028C=) | |
| 5 | g.149980379C>G | CA361706295 | SLC26A2 | c.786C>G (p.Phe262Leu) c.372+2028C>G (n.372+2028C>G) | |
| 5 | g.149980379C>T | CA447402118 | SLC26A2 | c.786C>T (p.Phe262=) c.372+2028C>T (n.372+2028C>T) | ClinVar dbSNP |
| 5 | g.149980380A>C | CA361706298 | SLC26A2 | c.787A>C (p.Thr263Pro) c.372+2029A>C (n.372+2029A>C) | |
| 5 | g.149980380A>G | CA361706297 | SLC26A2 | c.787A>G (p.Thr263Ala) c.372+2029A>G (n.372+2029A>G) | gnomAD v4 |
| 5 | g.149980380A>T | CA361706296 | SLC26A2 | c.787A>T (p.Thr263Ser) c.372+2029A>T (n.372+2029A>T) | |
| 5 | g.149980381C>A | CA361706299 | SLC26A2 | c.788C>A (p.Thr263Asn) c.372+2030C>A (n.372+2030C>A) | |
| 5 | g.149980381C= | CA1590738336 | SLC26A2 | c.788C= (p.Thr263=) c.372+2030C= (n.372+2030C=) | |
| 5 | g.149980381C>G | CA361706300 | SLC26A2 | c.788C>G (p.Thr263Ser) c.372+2030C>G (n.372+2030C>G) | dbSNP |
| 5 | g.149980381C>T | CA361706301 | SLC26A2 | c.788C>T (p.Thr263Ile) c.372+2030C>T (n.372+2030C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980382T>A | CA447402120 | SLC26A2 | c.789T>A (p.Thr263=) c.372+2031T>A (n.372+2031T>A) | |
| 5 | g.149980382T>C | CA447402121 | SLC26A2 | c.789T>C (p.Thr263=) c.372+2031T>C (n.372+2031T>C) | |
| 5 | g.149980382T>G | CA447402122 | SLC26A2 | c.789T>G (p.Thr263=) c.372+2031T>G (n.372+2031T>G) | |
| 5 | g.149980383A= | CA1590738337 | SLC26A2 | c.790A= (p.Ile264=) c.372+2032A= (n.372+2032A=) | |
| 5 | g.149980383A>C | CA361706302 | SLC26A2 | c.790A>C (p.Ile264Leu) c.372+2032A>C (n.372+2032A>C) | |
| 5 | g.149980383A>G | CA129083756 | SLC26A2 | c.790A>G (p.Ile264Val) c.372+2032A>G (n.372+2032A>G) | dbSNP gnomAD v4 |
| 5 | g.149980383A>T | CA361706303 | SLC26A2 | c.790A>T (p.Ile264Phe) c.372+2032A>T (n.372+2032A>T) | |
| 5 | g.149980384T>A | CA361706304 | SLC26A2 | c.791T>A (p.Ile264Asn) c.372+2033T>A (n.372+2033T>A) | |
| 5 | g.149980384T>C | CA361706305 | SLC26A2 | c.791T>C (p.Ile264Thr) c.372+2033T>C (n.372+2033T>C) | |
| 5 | g.149980384T>G | CA361706306 | SLC26A2 | c.791T>G (p.Ile264Ser) c.372+2033T>G (n.372+2033T>G) | |
| 5 | g.149980385T>A | CA447402124 | SLC26A2 | c.792T>A (p.Ile264=) c.372+2034T>A (n.372+2034T>A) | |
| 5 | g.149980385T>C | CA447402125 | SLC26A2 | c.792T>C (p.Ile264=) c.372+2034T>C (n.372+2034T>C) | |
| 5 | g.149980385T>G | CA361706307 | SLC26A2 | c.792T>G (p.Ile264Met) c.372+2034T>G (n.372+2034T>G) | dbSNP |
| 5 | g.149980385T= | CA1590738338 | SLC26A2 | c.792T= (p.Ile264=) c.372+2034T= (n.372+2034T=) | |
| 5 | g.149980386C>A | CA361706308 | SLC26A2 | c.793C>A (p.Leu265Ile) c.372+2035C>A (n.372+2035C>A) | |
| 5 | g.149980386C= | CA1590738339 | SLC26A2 | c.793C= (p.Leu265=) c.372+2035C= (n.372+2035C=) | |
| 5 | g.149980386C>G | CA361706309 | SLC26A2 | c.793C>G (p.Leu265Val) c.372+2035C>G (n.372+2035C>G) | gnomAD v4 |
| 5 | g.149980386C>T | CA10623451 | SLC26A2 | c.793C>T (p.Leu265Phe) c.372+2035C>T (n.372+2035C>T) | ClinVar dbSNP |
| 5 | g.149980387T>A | CA361706311 | SLC26A2 | c.794T>A (p.Leu265His) c.372+2036T>A (n.372+2036T>A) | |
| 5 | g.149980387T>C | CA361706312 | SLC26A2 | c.794T>C (p.Leu265Pro) c.372+2036T>C (n.372+2036T>C) | |
| 5 | g.149980387T>G | CA361706310 | SLC26A2 | c.794T>G (p.Leu265Arg) c.372+2036T>G (n.372+2036T>G) | |
| 5 | g.149980388T>A | CA447402129 | SLC26A2 | c.795T>A (p.Leu265=) c.372+2037T>A (n.372+2037T>A) | |
| 5 | g.149980388T>C | CA447402130 | SLC26A2 | c.795T>C (p.Leu265=) c.372+2037T>C (n.372+2037T>C) | ClinVar |
| 5 | g.149980388T>G | CA447402131 | SLC26A2 | c.795T>G (p.Leu265=) c.372+2037T>G (n.372+2037T>G) | dbSNP |
| 5 | g.149980388T= | CA1590738340 | SLC26A2 | c.795T= (p.Leu265=) c.372+2037T= (n.372+2037T=) | |
| 5 | g.149980389A>C | CA361706313 | SLC26A2 | c.796A>C (p.Thr266Pro) c.372+2038A>C (n.372+2038A>C) | |
| 5 | g.149980389A>G | CA361706314 | SLC26A2 | c.796A>G (p.Thr266Ala) c.372+2038A>G (n.372+2038A>G) | |
| 5 | g.149980389A>T | CA361706315 | SLC26A2 | c.796A>T (p.Thr266Ser) c.372+2038A>T (n.372+2038A>T) | |
| 5 | g.149980389dup | CA3505322 | SLC26A2 | c.796dup (p.Thr266AsnfsTer16) c.372+2038dup (n.372+2038dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980390C>A | CA361706316 | SLC26A2 | c.797C>A (p.Thr266Lys) c.372+2039C>A (n.372+2039C>A) | |
| 5 | g.149980390C= | CA1590738341 | SLC26A2 | c.797C= (p.Thr266=) c.372+2039C= (n.372+2039C=) | |
| 5 | g.149980390C>G | CA361706317 | SLC26A2 | c.797C>G (p.Thr266Arg) c.372+2039C>G (n.372+2039C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980390C>T | CA3505323 | SLC26A2 | c.797C>T (p.Thr266Ile) c.372+2039C>T (n.372+2039C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980391A= | CA1590738342 | SLC26A2 | c.798A= (p.Thr266=) c.372+2040A= (n.372+2040A=) | |
| 5 | g.149980391A>C | CA3505324 | SLC26A2 | c.798A>C (p.Thr266=) c.372+2040A>C (n.372+2040A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980391A>G | CA3505325 | SLC26A2 | c.798A>G (p.Thr266=) c.372+2040A>G (n.372+2040A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980391A>T | CA447402132 | SLC26A2 | c.798A>T (p.Thr266=) c.372+2040A>T (n.372+2040A>T) | |
| 5 | g.149980392T>A | CA361706318 | SLC26A2 | c.799T>A (p.Ser267Thr) c.372+2041T>A (n.372+2041T>A) | COSMIC |
| 5 | g.149980392T>C | CA361706319 | SLC26A2 | c.799T>C (p.Ser267Pro) c.372+2041T>C (n.372+2041T>C) | |
| 5 | g.149980392T>G | CA361706320 | SLC26A2 | c.799T>G (p.Ser267Ala) c.372+2041T>G (n.372+2041T>G) | |
| 5 | g.149980393C>A | CA361706321 | SLC26A2 | c.800C>A (p.Ser267Tyr) c.372+2042C>A (n.372+2042C>A) | |
| 5 | g.149980393C>G | CA361706322 | SLC26A2 | c.800C>G (p.Ser267Cys) c.372+2042C>G (n.372+2042C>G) | |
| 5 | g.149980393C>T | CA361706323 | SLC26A2 | c.800C>T (p.Ser267Phe) c.372+2042C>T (n.372+2042C>T) | |
| 5 | g.149980394T>A | CA447402138 | SLC26A2 | c.801T>A (p.Ser267=) c.372+2043T>A (n.372+2043T>A) | |
| 5 | g.149980394T>C | CA447402134 | SLC26A2 | c.801T>C (p.Ser267=) c.372+2043T>C (n.372+2043T>C) | dbSNP |
| 5 | g.149980394T>G | CA447402136 | SLC26A2 | c.801T>G (p.Ser267=) c.372+2043T>G (n.372+2043T>G) | |
| 5 | g.149980394T= | CA1590738343 | SLC26A2 | c.801T= (p.Ser267=) c.372+2043T= (n.372+2043T=) | |
| 5 | g.149980395C>A | CA361706324 | SLC26A2 | c.802C>A (p.Gln268Lys) c.372+2044C>A (n.372+2044C>A) | |
| 5 | g.149980395C>G | CA361706326 | SLC26A2 | c.802C>G (p.Gln268Glu) c.372+2044C>G (n.372+2044C>G) | |
| 5 | g.149980395C>T | CA361706325 | SLC26A2 | c.802C>T (p.Gln268Ter) c.372+2044C>T (n.372+2044C>T) | |
| 5 | g.149980396A>C | CA361706327 | SLC26A2 | c.803A>C (p.Gln268Pro) c.372+2045A>C (n.372+2045A>C) | gnomAD v4 |
| 5 | g.149980396A>G | CA361706328 | SLC26A2 | c.803A>G (p.Gln268Arg) c.372+2045A>G (n.372+2045A>G) | |
| 5 | g.149980396A>T | CA361706329 | SLC26A2 | c.803A>T (p.Gln268Leu) c.372+2045A>T (n.372+2045A>T) | |
| 5 | g.149980397G>A | CA447402139 | SLC26A2 | c.804G>A (p.Gln268=) c.372+2046G>A (n.372+2046G>A) | |
| 5 | g.149980397G>C | CA361706330 | SLC26A2 | c.804G>C (p.Gln268His) c.372+2046G>C (n.372+2046G>C) | |
| 5 | g.149980397G>T | CA361706331 | SLC26A2 | c.804G>T (p.Gln268His) c.372+2046G>T (n.372+2046G>T) | |
| 5 | g.149980398G>A | CA361706332 | SLC26A2 | c.805G>A (p.Ala269Thr) c.372+2047G>A (n.372+2047G>A) | gnomAD v4 |
| 5 | g.149980398G>C | CA361706333 | SLC26A2 | c.805G>C (p.Ala269Pro) c.372+2047G>C (n.372+2047G>C) | |
| 5 | g.149980398G>T | CA361706334 | SLC26A2 | c.805G>T (p.Ala269Ser) c.372+2047G>T (n.372+2047G>T) | |
| 5 | g.149980399C>A | CA361706335 | SLC26A2 | c.806C>A (p.Ala269Asp) c.372+2048C>A (n.372+2048C>A) | |
| 5 | g.149980399C>G | CA361706336 | SLC26A2 | c.806C>G (p.Ala269Gly) c.372+2048C>G (n.372+2048C>G) | gnomAD v4 |
| 5 | g.149980399C>T | CA361706337 | SLC26A2 | c.806C>T (p.Ala269Val) c.372+2048C>T (n.372+2048C>T) | |
| 5 | g.149980400dup | CA2695198770 | SLC26A2 | c.807dup (p.Lys270GlnfsTer12) c.372+2049dup (n.372+2049dup) | ClinVar |
| 5 | g.149980400C>A | CA447402141 | SLC26A2 | c.807C>A (p.Ala269=) c.372+2049C>A (n.372+2049C>A) | |
| 5 | g.149980400C= | CA1590738344 | SLC26A2 | c.807C= (p.Ala269=) c.372+2049C= (n.372+2049C=) | |
| 5 | g.149980400C>G | CA447402140 | SLC26A2 | c.807C>G (p.Ala269=) c.372+2049C>G (n.372+2049C>G) | |
| 5 | g.149980400C>T | CA3505326 | SLC26A2 | c.807C>T (p.Ala269=) c.372+2049C>T (n.372+2049C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980401A>C | CA361706340 | SLC26A2 | c.808A>C (p.Lys270Gln) c.372+2050A>C (n.372+2050A>C) | |
| 5 | g.149980401A>G | CA361706338 | SLC26A2 | c.808A>G (p.Lys270Glu) c.372+2050A>G (n.372+2050A>G) | |
| 5 | g.149980401A>T | CA361706339 | SLC26A2 | c.808A>T (p.Lys270Ter) c.372+2050A>T (n.372+2050A>T) | |
| 5 | g.149980402A>C | CA361706341 | SLC26A2 | c.809A>C (p.Lys270Thr) c.372+2051A>C (n.372+2051A>C) | |
| 5 | g.149980402A>G | CA361706342 | SLC26A2 | c.809A>G (p.Lys270Arg) c.372+2051A>G (n.372+2051A>G) | |
| 5 | g.149980402A>T | CA361706343 | SLC26A2 | c.809A>T (p.Lys270Met) c.372+2051A>T (n.372+2051A>T) | |
| 5 | g.149980403G>A | CA3505327 | SLC26A2 | c.810G>A (p.Lys270=) c.372+2052G>A (n.372+2052G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980403G>C | CA361706344 | SLC26A2 | c.810G>C (p.Lys270Asn) c.372+2052G>C (n.372+2052G>C) | |
| 5 | g.149980403G= | CA1590738345 | SLC26A2 | c.810G= (p.Lys270=) c.372+2052G= (n.372+2052G=) | |
| 5 | g.149980403G>T | CA361706345 | SLC26A2 | c.810G>T (p.Lys270Asn) c.372+2052G>T (n.372+2052G>T) | |
| 5 | g.149980404T>A | CA361706346 | SLC26A2 | c.811T>A (p.Tyr271Asn) c.372+2053T>A (n.372+2053T>A) | |
| 5 | g.149980404T>C | CA361706347 | SLC26A2 | c.811T>C (p.Tyr271His) c.372+2053T>C (n.372+2053T>C) | |
| 5 | g.149980404T>G | CA361706348 | SLC26A2 | c.811T>G (p.Tyr271Asp) c.372+2053T>G (n.372+2053T>G) | |
| 5 | g.149980405A>C | CA361706349 | SLC26A2 | c.812A>C (p.Tyr271Ser) c.372+2054A>C (n.372+2054A>C) | |
| 5 | g.149980405A>G | CA361706350 | SLC26A2 | c.812A>G (p.Tyr271Cys) c.372+2054A>G (n.372+2054A>G) | gnomAD v4 |
| 5 | g.149980405A>T | CA361706351 | SLC26A2 | c.812A>T (p.Tyr271Phe) c.372+2054A>T (n.372+2054A>T) | |
| 5 | g.149980406T>A | CA361706352 | SLC26A2 | c.813T>A (p.Tyr271Ter) c.372+2055T>A (n.372+2055T>A) | |
| 5 | g.149980406T>C | CA447402146 | SLC26A2 | c.813T>C (p.Tyr271=) c.372+2055T>C (n.372+2055T>C) | |
| 5 | g.149980406T>G | CA361706353 | SLC26A2 | c.813T>G (p.Tyr271Ter) c.372+2055T>G (n.372+2055T>G) | gnomAD v4 |
| 5 | g.149980407C>A | CA361706354 | SLC26A2 | c.814C>A (p.Leu272Ile) c.372+2056C>A (n.372+2056C>A) | |
| 5 | g.149980407C= | CA1590738346 | SLC26A2 | c.814C= (p.Leu272=) c.372+2056C= (n.372+2056C=) | |
| 5 | g.149980407C>G | CA361706355 | SLC26A2 | c.814C>G (p.Leu272Val) c.372+2056C>G (n.372+2056C>G) | |
| 5 | g.149980407C>T | CA129083779 | SLC26A2 | c.814C>T (p.Leu272Phe) c.372+2056C>T (n.372+2056C>T) | dbSNP |
| 5 | g.149980408T>A | CA361706356 | SLC26A2 | c.815T>A (p.Leu272His) c.372+2057T>A (n.372+2057T>A) | |
| 5 | g.149980408T>C | CA361706357 | SLC26A2 | c.815T>C (p.Leu272Pro) c.372+2057T>C (n.372+2057T>C) | |
| 5 | g.149980408T>G | CA361706358 | SLC26A2 | c.815T>G (p.Leu272Arg) c.372+2057T>G (n.372+2057T>G) | dbSNP gnomAD v4 |
| 5 | g.149980408T= | CA1590738347 | SLC26A2 | c.815T= (p.Leu272=) c.372+2057T= (n.372+2057T=) | |
| 5 | g.149980409T>A | CA447402150 | SLC26A2 | c.816T>A (p.Leu272=) c.372+2058T>A (n.372+2058T>A) | |
| 5 | g.149980409T>C | CA447402151 | SLC26A2 | c.816T>C (p.Leu272=) c.372+2058T>C (n.372+2058T>C) | |
| 5 | g.149980409T>G | CA447402152 | SLC26A2 | c.816T>G (p.Leu272=) c.372+2058T>G (n.372+2058T>G) | |
| 5 | g.149980410C>A | CA361706359 | SLC26A2 | c.817C>A (p.Leu273Ile) c.372+2059C>A (n.372+2059C>A) | COSMIC |
| 5 | g.149980410C>G | CA361706360 | SLC26A2 | c.817C>G (p.Leu273Val) c.372+2059C>G (n.372+2059C>G) | |
| 5 | g.149980410C>T | CA361706361 | SLC26A2 | c.817C>T (p.Leu273Phe) c.372+2059C>T (n.372+2059C>T) | |
| 5 | g.149980410_149980411delinsCT | CA1590738348 | SLC26A2 | c.817_818delinsCT (p.Leu273=) c.372+2059_372+2060delinsCT (n.372+2059_372+2060delinsCT) | |
| 5 | g.149980411T>A | CA361706362 | SLC26A2 | c.818T>A (p.Leu273His) c.372+2060T>A (n.372+2060T>A) | |
| 5 | g.149980411T>C | CA361706363 | SLC26A2 | c.818T>C (p.Leu273Pro) c.372+2060T>C (n.372+2060T>C) | |
| 5 | g.149980411T>G | CA361706364 | SLC26A2 | c.818T>G (p.Leu273Arg) c.372+2060T>G (n.372+2060T>G) | |
| 5 | g.149980412del | CA3505328 | SLC26A2 | c.819del (p.Leu275SerfsTer?) c.372+2061del (n.372+2061del) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149980412T>A | CA447402154 | SLC26A2 | c.819T>A (p.Leu273=) c.372+2061T>A (n.372+2061T>A) | |
| 5 | g.149980412T>C | CA447402155 | SLC26A2 | c.819T>C (p.Leu273=) c.372+2061T>C (n.372+2061T>C) | gnomAD v4 |
| 5 | g.149980412T>G | CA447402156 | SLC26A2 | c.819T>G (p.Leu273=) c.372+2061T>G (n.372+2061T>G) | |
| 5 | g.149980413G>A | CA361706366 | SLC26A2 | c.820G>A (p.Gly274Arg) c.372+2062G>A (n.372+2062G>A) | |
| 5 | g.149980413G>C | CA361706367 | SLC26A2 | c.820G>C (p.Gly274Arg) c.372+2062G>C (n.372+2062G>C) | |
| 5 | g.149980413G>T | CA361706365 | SLC26A2 | c.820G>T (p.Gly274Trp) c.372+2062G>T (n.372+2062G>T) | |
| 5 | g.149980415del | CA2695198771 | SLC26A2 | c.822del (p.Leu275SerfsTer?) c.372+2064del (n.372+2064del) | ClinVar |
| 5 | g.149980414G>A | CA361706369 | SLC26A2 | c.821G>A (p.Gly274Glu) c.372+2063G>A (n.372+2063G>A) | |
| 5 | g.149980414G>C | CA361706368 | SLC26A2 | c.821G>C (p.Gly274Ala) c.372+2063G>C (n.372+2063G>C) | |
| 5 | g.149980414G>T | CA361706370 | SLC26A2 | c.821G>T (p.Gly274Val) c.372+2063G>T (n.372+2063G>T) | |
| 5 | g.149980415G>A | CA447402161 | SLC26A2 | c.822G>A (p.Gly274=) c.372+2064G>A (n.372+2064G>A) | |
| 5 | g.149980415G>C | CA447402159 | SLC26A2 | c.822G>C (p.Gly274=) c.372+2064G>C (n.372+2064G>C) | |
| 5 | g.149980415G>T | CA447402157 | SLC26A2 | c.822G>T (p.Gly274=) c.372+2064G>T (n.372+2064G>T) | gnomAD v4 |
| 5 | g.149980416C>A | CA361706371 | SLC26A2 | c.823C>A (p.Leu275Ile) c.372+2065C>A (n.372+2065C>A) | ClinVar gnomAD v4 |
| 5 | g.149980416C= | CA1590738349 | SLC26A2 | c.823C= (p.Leu275=) c.372+2065C= (n.372+2065C=) | |
| 5 | g.149980416C>G | CA361706372 | SLC26A2 | c.823C>G (p.Leu275Val) c.372+2065C>G (n.372+2065C>G) | dbSNP |
| 5 | g.149980416C>T | CA3505329 | SLC26A2 | c.823C>T (p.Leu275Phe) c.372+2065C>T (n.372+2065C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980417T>A | CA361706373 | SLC26A2 | c.824T>A (p.Leu275His) c.372+2066T>A (n.372+2066T>A) | gnomAD v4 |
| 5 | g.149980417T>C | CA361706374 | SLC26A2 | c.824T>C (p.Leu275Pro) c.372+2066T>C (n.372+2066T>C) | gnomAD v4 |
| 5 | g.149980417T>G | CA361706375 | SLC26A2 | c.824T>G (p.Leu275Arg) c.372+2066T>G (n.372+2066T>G) | |
| 5 | g.149980418C>A | CA447402164 | SLC26A2 | c.825C>A (p.Leu275=) c.372+2067C>A (n.372+2067C>A) | |
| 5 | g.149980418C= | CA1590738350 | SLC26A2 | c.825C= (p.Leu275=) c.372+2067C= (n.372+2067C=) | |
| 5 | g.149980418C>G | CA447402165 | SLC26A2 | c.825C>G (p.Leu275=) c.372+2067C>G (n.372+2067C>G) | |
| 5 | g.149980418C>T | CA447402166 | SLC26A2 | c.825C>T (p.Leu275=) c.372+2067C>T (n.372+2067C>T) | dbSNP gnomAD v4 |
| 5 | g.149980419A>C | CA361706376 | SLC26A2 | c.826A>C (p.Asn276His) c.372+2068A>C (n.372+2068A>C) | |
| 5 | g.149980419A>G | CA361706377 | SLC26A2 | c.826A>G (p.Asn276Asp) c.372+2068A>G (n.372+2068A>G) | |
| 5 | g.149980419A>T | CA361706378 | SLC26A2 | c.826A>T (p.Asn276Tyr) c.372+2068A>T (n.372+2068A>T) | |
| 5 | g.149980420A= | CA1590738351 | SLC26A2 | c.827A= (p.Asn276=) c.372+2069A= (n.372+2069A=) | |
| 5 | g.149980420A>C | CA361706379 | SLC26A2 | c.827A>C (p.Asn276Thr) c.372+2069A>C (n.372+2069A>C) | |
| 5 | g.149980420A>G | CA3505330 | SLC26A2 | c.827A>G (p.Asn276Ser) c.372+2069A>G (n.372+2069A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980420A>T | CA361706380 | SLC26A2 | c.827A>T (p.Asn276Ile) c.372+2069A>T (n.372+2069A>T) | |
| 5 | g.149980421C>A | CA3505331 | SLC26A2 | c.828C>A (p.Asn276Lys) c.372+2070C>A (n.372+2070C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980421C= | CA1590738352 | SLC26A2 | c.828C= (p.Asn276=) c.372+2070C= (n.372+2070C=) | |
| 5 | g.149980421C>G | CA361706381 | SLC26A2 | c.828C>G (p.Asn276Lys) c.372+2070C>G (n.372+2070C>G) | |
| 5 | g.149980421C>T | CA447402169 | SLC26A2 | c.828C>T (p.Asn276=) c.372+2070C>T (n.372+2070C>T) | gnomAD v4 |
| 5 | g.149980422C>A | CA361706384 | SLC26A2 | c.829C>A (p.Leu277Ile) c.372+2071C>A (n.372+2071C>A) | |
| 5 | g.149980422C>G | CA361706383 | SLC26A2 | c.829C>G (p.Leu277Val) c.372+2071C>G (n.372+2071C>G) | |
| 5 | g.149980422C>T | CA361706382 | SLC26A2 | c.829C>T (p.Leu277Phe) c.372+2071C>T (n.372+2071C>T) | |
| 5 | g.149980423T>A | CA361706385 | SLC26A2 | c.830T>A (p.Leu277His) c.372+2072T>A (n.372+2072T>A) | |
| 5 | g.149980423T>C | CA361706386 | SLC26A2 | c.830T>C (p.Leu277Pro) c.372+2072T>C (n.372+2072T>C) | |
| 5 | g.149980423T>G | CA361706387 | SLC26A2 | c.830T>G (p.Leu277Arg) c.372+2072T>G (n.372+2072T>G) | |
| 5 | g.149980424T>A | CA447402171 | SLC26A2 | c.831T>A (p.Leu277=) c.372+2073T>A (n.372+2073T>A) | |
| 5 | g.149980424T>C | CA447402172 | SLC26A2 | c.831T>C (p.Leu277=) c.372+2073T>C (n.372+2073T>C) | |
| 5 | g.149980424T>G | CA447402173 | SLC26A2 | c.831T>G (p.Leu277=) c.372+2073T>G (n.372+2073T>G) | gnomAD v4 |
| 5 | g.149980425C>A | CA361706388 | SLC26A2 | c.832C>A (p.Pro278Thr) c.372+2074C>A (n.372+2074C>A) | |
| 5 | g.149980425C= | CA1590738353 | SLC26A2 | c.832C= (p.Pro278=) c.372+2074C= (n.372+2074C=) | |
| 5 | g.149980425C>G | CA361706389 | SLC26A2 | c.832C>G (p.Pro278Ala) c.372+2074C>G (n.372+2074C>G) | |
| 5 | g.149980425C>T | CA3505332 | SLC26A2 | c.832C>T (p.Pro278Ser) c.372+2074C>T (n.372+2074C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980426C>A | CA361706390 | SLC26A2 | c.833C>A (p.Pro278His) c.372+2075C>A (n.372+2075C>A) | |
| 5 | g.149980426C= | CA1590738354 | SLC26A2 | c.833C= (p.Pro278=) c.372+2075C= (n.372+2075C=) | |
| 5 | g.149980426C>G | CA361706391 | SLC26A2 | c.833C>G (p.Pro278Arg) c.372+2075C>G (n.372+2075C>G) | |
| 5 | g.149980426C>T | CA361706392 | SLC26A2 | c.833C>T (p.Pro278Leu) c.372+2075C>T (n.372+2075C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980427T>A | CA447402174 | SLC26A2 | c.834T>A (p.Pro278=) c.372+2076T>A (n.372+2076T>A) | |
| 5 | g.149980427T>C | CA447402175 | SLC26A2 | c.834T>C (p.Pro278=) c.372+2076T>C (n.372+2076T>C) | dbSNP gnomAD v4 |
| 5 | g.149980427T>G | CA447402177 | SLC26A2 | c.834T>G (p.Pro278=) c.372+2076T>G (n.372+2076T>G) | |
| 5 | g.149980428C>A | CA447402178 | SLC26A2 | c.835C>A (p.Arg279=) c.372+2077C>A (n.372+2077C>A) | ClinVar |
| 5 | g.149980428C= | CA1139771935 | SLC26A2 | c.835C= (p.Arg279=) c.372+2077C= (n.372+2077C=) | |
| 5 | g.149980428C>G | CA361706393 | SLC26A2 | c.835C>G (p.Arg279Gly) c.372+2077C>G (n.372+2077C>G) | |
| 5 | g.149980428C>T | CA252990 | SLC26A2 | c.835C>T (p.Arg279Trp) c.372+2077C>T (n.372+2077C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>A | CA3505333 | SLC26A2 | c.836G>A (p.Arg279Gln) c.372+2078G>A (n.372+2078G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>C | CA361706395 | SLC26A2 | c.836G>C (p.Arg279Pro) c.372+2078G>C (n.372+2078G>C) | ClinVar dbSNP |
| 5 | g.149980429G= | CA1590738355 | SLC26A2 | c.836G= (p.Arg279=) c.372+2078G= (n.372+2078G=) | |
| 5 | g.149980429G>T | CA361706394 | SLC26A2 | c.836G>T (p.Arg279Leu) c.372+2078G>T (n.372+2078G>T) | |
| 5 | g.149980430G>A | CA447402179 | SLC26A2 | c.837G>A (p.Arg279=) c.372+2079G>A (n.372+2079G>A) | |
| 5 | g.149980430G>C | CA447402180 | SLC26A2 | c.837G>C (p.Arg279=) c.372+2079G>C (n.372+2079G>C) | |
| 5 | g.149980430G= | CA1590738356 | SLC26A2 | c.837G= (p.Arg279=) c.372+2079G= (n.372+2079G=) | |
| 5 | g.149980430G>T | CA447402181 | SLC26A2 | c.837G>T (p.Arg279=) c.372+2079G>T (n.372+2079G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980431A>C | CA361706396 | SLC26A2 | c.838A>C (p.Thr280Pro) c.372+2080A>C (n.372+2080A>C) | |
| 5 | g.149980431A>G | CA361706397 | SLC26A2 | c.838A>G (p.Thr280Ala) c.372+2080A>G (n.372+2080A>G) | |
| 5 | g.149980431A>T | CA361706398 | SLC26A2 | c.838A>T (p.Thr280Ser) c.372+2080A>T (n.372+2080A>T) | |
| 5 | g.149980435_149980458del | CA2573139274 | SLC26A2 | c.842_865del (p.Asn281_Thr288del) c.372+2084_372+2107del (n.372+2084_372+2107del) | ClinVar dbSNP |
| 5 | g.149980432C>A | CA361706399 | SLC26A2 | c.839C>A (p.Thr280Asn) c.372+2081C>A (n.372+2081C>A) | |
| 5 | g.149980432C= | CA1590738357 | SLC26A2 | c.839C= (p.Thr280=) c.372+2081C= (n.372+2081C=) | |
| 5 | g.149980432C>G | CA361706400 | SLC26A2 | c.839C>G (p.Thr280Ser) c.372+2081C>G (n.372+2081C>G) | |
| 5 | g.149980432C>T | CA361706401 | SLC26A2 | c.839C>T (p.Thr280Ile) c.372+2081C>T (n.372+2081C>T) | dbSNP gnomAD v4 |
| 5 | g.149980433T>A | CA447402183 | SLC26A2 | c.840T>A (p.Thr280=) c.372+2082T>A (n.372+2082T>A) | |
| 5 | g.149980433T>C | CA447402184 | SLC26A2 | c.840T>C (p.Thr280=) c.372+2082T>C (n.372+2082T>C) | |
| 5 | g.149980433T>G | CA447402185 | SLC26A2 | c.840T>G (p.Thr280=) c.372+2082T>G (n.372+2082T>G) | |
| 5 | g.149980433dup | CA2580073910 | SLC26A2 | c.840dup (p.Asn281Ter) c.372+2082dup (n.372+2082dup) | ClinVar |
| 5 | g.149980434A= | CA1590738358 | SLC26A2 | c.841A= (p.Asn281=) c.372+2083A= (n.372+2083A=) | |
| 5 | g.149980434A>C | CA361706402 | SLC26A2 | c.841A>C (p.Asn281His) c.372+2083A>C (n.372+2083A>C) | ClinVar dbSNP |
| 5 | g.149980434A>G | CA361706403 | SLC26A2 | c.841A>G (p.Asn281Asp) c.372+2083A>G (n.372+2083A>G) | gnomAD v4 |
| 5 | g.149980434A>T | CA361706404 | SLC26A2 | c.841A>T (p.Asn281Tyr) c.372+2083A>T (n.372+2083A>T) | |
| 5 | g.149980435A= | CA1590738359 | SLC26A2 | c.842A= (p.Asn281=) c.372+2084A= (n.372+2084A=) | |
| 5 | g.149980435A>C | CA361706405 | SLC26A2 | c.842A>C (p.Asn281Thr) c.372+2084A>C (n.372+2084A>C) | |
| 5 | g.149980435A>G | CA129083824 | SLC26A2 | c.842A>G (p.Asn281Ser) c.372+2084A>G (n.372+2084A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980435A>T | CA361706406 | SLC26A2 | c.842A>T (p.Asn281Ile) c.372+2084A>T (n.372+2084A>T) | |
| 5 | g.149980436T>A | CA361706408 | SLC26A2 | c.843T>A (p.Asn281Lys) c.372+2085T>A (n.372+2085T>A) | |
| 5 | g.149980436T>C | CA447402187 | SLC26A2 | c.843T>C (p.Asn281=) c.372+2085T>C (n.372+2085T>C) | dbSNP |
| 5 | g.149980436T>G | CA361706407 | SLC26A2 | c.843T>G (p.Asn281Lys) c.372+2085T>G (n.372+2085T>G) | |
| 5 | g.149980436T= | CA1590738360 | SLC26A2 | c.843T= (p.Asn281=) c.372+2085T= (n.372+2085T=) | |
| 5 | g.149980437G>A | CA361706409 | SLC26A2 | c.844G>A (p.Gly282Ser) c.372+2086G>A (n.372+2086G>A) | |
| 5 | g.149980437G>C | CA3505334 | SLC26A2 | c.844G>C (p.Gly282Arg) c.372+2086G>C (n.372+2086G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980437G= | CA1590738361 | SLC26A2 | c.844G= (p.Gly282=) c.372+2086G= (n.372+2086G=) | |
| 5 | g.149980437G>T | CA129083833 | SLC26A2 | c.844G>T (p.Gly282Cys) c.372+2086G>T (n.372+2086G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980438G>A | CA361706410 | SLC26A2 | c.845G>A (p.Gly282Asp) c.372+2087G>A (n.372+2087G>A) | ClinVar gnomAD v4 |
| 5 | g.149980438G>C | CA361706411 | SLC26A2 | c.845G>C (p.Gly282Ala) c.372+2087G>C (n.372+2087G>C) | |
| 5 | g.149980438G= | CA1590738362 | SLC26A2 | c.845G= (p.Gly282=) c.372+2087G= (n.372+2087G=) | |
| 5 | g.149980438G>T | CA361706412 | SLC26A2 | c.845G>T (p.Gly282Val) c.372+2087G>T (n.372+2087G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980439T>A | CA447402193 | SLC26A2 | c.846T>A (p.Gly282=) c.372+2088T>A (n.372+2088T>A) | |
| 5 | g.149980439T>C | CA447402195 | SLC26A2 | c.846T>C (p.Gly282=) c.372+2088T>C (n.372+2088T>C) | ClinVar |
| 5 | g.149980439T>G | CA447402196 | SLC26A2 | c.846T>G (p.Gly282=) c.372+2088T>G (n.372+2088T>G) | gnomAD v4 |
| 5 | g.149980440G>A | CA361706413 | SLC26A2 | c.847G>A (p.Val283Met) c.372+2089G>A (n.372+2089G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980440G>C | CA361706414 | SLC26A2 | c.847G>C (p.Val283Leu) c.372+2089G>C (n.372+2089G>C) | |
| 5 | g.149980440G= | CA1590738363 | SLC26A2 | c.847G= (p.Val283=) c.372+2089G= (n.372+2089G=) | |
| 5 | g.149980440G>T | CA361706415 | SLC26A2 | c.847G>T (p.Val283Leu) c.372+2089G>T (n.372+2089G>T) | |
| 5 | g.149980441T>A | CA361706416 | SLC26A2 | c.848T>A (p.Val283Glu) c.372+2090T>A (n.372+2090T>A) | |
| 5 | g.149980441T>C | CA361706417 | SLC26A2 | c.848T>C (p.Val283Ala) c.372+2090T>C (n.372+2090T>C) | dbSNP |
| 5 | g.149980441T>G | CA361706418 | SLC26A2 | c.848T>G (p.Val283Gly) c.372+2090T>G (n.372+2090T>G) | |
| 5 | g.149980441T= | CA1590738365 | SLC26A2 | c.848T= (p.Val283=) c.372+2090T= (n.372+2090T=) | |
| 5 | g.149980441_149980442delinsTG | CA1590738364 | SLC26A2 | c.848_849delinsTG (p.Val283=) c.372+2090_372+2091delinsTG (n.372+2090_372+2091delinsTG) |