UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980229G>A | CA2675943614 | SLC26A2 | c.700-64G>A (n.700-64G>A) c.372+1878G>A (n.372+1878G>A) | gnomAD v4 |
| 5 | g.149980230A>T | CA2675943615 | SLC26A2 | c.700-63A>T (n.700-63A>T) c.372+1879A>T (n.372+1879A>T) | gnomAD v4 |
| 5 | g.149980231T>A | CA805557600 | SLC26A2 | c.700-62T>A (n.700-62T>A) c.372+1880T>A (n.372+1880T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980231T= | CA1590738261 | SLC26A2 | c.700-62T= (n.700-62T=) c.372+1880T= (n.372+1880T=) | |
| 5 | g.149980231_149980232insGCCTTTTGGTTCTTTTGCCAACCAAAGAACTC | CA2675943616 | SLC26A2 | c.700-62_700-61insGCCTTTTGGTTCTTTTGCCAACCAAAGAACTC (n.700-62_700-61insGCCTTTTGGTTCTTTTGCCAACCAAAGAACTC) c.372+1880_372+1881insGCCTTTTGGTTCTTTTGCCAACCAAAGAACTC (n.372+1880_372+1881insGCCTTTTGGTTCTTTTGCCAACCAAAGAACTC) | gnomAD v4 |
| 5 | g.149980232A= | CA1590738262 | SLC26A2 | c.700-61A= (n.700-61A=) c.372+1881A= (n.372+1881A=) | |
| 5 | g.149980232A>G | CA129083567 | SLC26A2 | c.700-61A>G (n.700-61A>G) c.372+1881A>G (n.372+1881A>G) | dbSNP gnomAD v4 |
| 5 | g.149980232A>T | CA2578449451 | SLC26A2 | c.700-61A>T (n.700-61A>T) c.372+1881A>T (n.372+1881A>T) | |
| 5 | g.149980235A= | CA1590738263 | SLC26A2 | c.700-58A= (n.700-58A=) c.372+1884A= (n.372+1884A=) | |
| 5 | g.149980235A>T | CA1590738264 | SLC26A2 | c.700-58A>T (n.700-58A>T) c.372+1884A>T (n.372+1884A>T) | dbSNP gnomAD v4 |
| 5 | g.149980236T>A | CA563955695 | SLC26A2 | c.700-57T>A (n.700-57T>A) c.372+1885T>A (n.372+1885T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980236T>C | CA2675943617 | SLC26A2 | c.700-57T>C (n.700-57T>C) c.372+1885T>C (n.372+1885T>C) | gnomAD v4 |
| 5 | g.149980236T>G | CA129083579 | SLC26A2 | c.700-57T>G (n.700-57T>G) c.372+1885T>G (n.372+1885T>G) | dbSNP gnomAD v4 |
| 5 | g.149980236T= | CA1590738265 | SLC26A2 | c.700-57T= (n.700-57T=) c.372+1885T= (n.372+1885T=) | |
| 5 | g.149980237A>G | CA2675943618 | SLC26A2 | c.700-56A>G (n.700-56A>G) c.372+1886A>G (n.372+1886A>G) | gnomAD v4 |
| 5 | g.149980238A= | CA1590738266 | SLC26A2 | c.700-55A= (n.700-55A=) c.372+1887A= (n.372+1887A=) | |
| 5 | g.149980238A>G | CA129083583 | SLC26A2 | c.700-55A>G (n.700-55A>G) c.372+1887A>G (n.372+1887A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980239A= | CA1590738267 | SLC26A2 | c.700-54A= (n.700-54A=) c.372+1888A= (n.372+1888A=) | |
| 5 | g.149980239A>C | CA805557603 | SLC26A2 | c.700-54A>C (n.700-54A>C) c.372+1888A>C (n.372+1888A>C) | dbSNP |
| 5 | g.149980240A>T | CA2675943619 | SLC26A2 | c.700-53A>T (n.700-53A>T) c.372+1889A>T (n.372+1889A>T) | gnomAD v4 |
| 5 | g.149980242T>C | CA1590738269 | SLC26A2 | c.700-51T>C (n.700-51T>C) c.372+1891T>C (n.372+1891T>C) | dbSNP gnomAD v4 |
| 5 | g.149980242T= | CA1590738268 | SLC26A2 | c.700-51T= (n.700-51T=) c.372+1891T= (n.372+1891T=) | |
| 5 | g.149980244A>T | CA2675943620 | SLC26A2 | c.700-49A>T (n.700-49A>T) c.372+1893A>T (n.372+1893A>T) | gnomAD v4 |
| 5 | g.149980245G>T | CA2675943621 | SLC26A2 | c.700-48G>T (n.700-48G>T) c.372+1894G>T (n.372+1894G>T) | gnomAD v4 |
| 5 | g.149980246A>T | CA2578449452 | SLC26A2 | c.700-47A>T (n.700-47A>T) c.372+1895A>T (n.372+1895A>T) | |
| 5 | g.149980247A= | CA1590738270 | SLC26A2 | c.700-46A= (n.700-46A=) c.372+1896A= (n.372+1896A=) | |
| 5 | g.149980247A>C | CA1590738271 | SLC26A2 | c.700-46A>C (n.700-46A>C) c.372+1896A>C (n.372+1896A>C) | dbSNP gnomAD v4 |
| 5 | g.149980248G>A | CA2675943622 | SLC26A2 | c.700-45G>A (n.700-45G>A) c.372+1897G>A (n.372+1897G>A) | gnomAD v4 |
| 5 | g.149980249T>C | CA563955696 | SLC26A2 | c.700-44T>C (n.700-44T>C) c.372+1898T>C (n.372+1898T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980249T= | CA1590738272 | SLC26A2 | c.700-44T= (n.700-44T=) c.372+1898T= (n.372+1898T=) | |
| 5 | g.149980250T>C | CA2675943623 | SLC26A2 | c.700-43T>C (n.700-43T>C) c.372+1899T>C (n.372+1899T>C) | gnomAD v4 |
| 5 | g.149980251C>A | CA1590738274 | SLC26A2 | c.700-42C>A (n.700-42C>A) c.372+1900C>A (n.372+1900C>A) | dbSNP gnomAD v4 |
| 5 | g.149980251C= | CA1590738273 | SLC26A2 | c.700-42C= (n.700-42C=) c.372+1900C= (n.372+1900C=) | |
| 5 | g.149980254T>C | CA2675943624 | SLC26A2 | c.700-39T>C (n.700-39T>C) c.372+1903T>C (n.372+1903T>C) | gnomAD v4 |
| 5 | g.149980255T>A | CA1082858459 | SLC26A2 | c.700-38T>A (n.700-38T>A) c.372+1904T>A (n.372+1904T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980255T>C | CA2675943625 | SLC26A2 | c.700-38T>C (n.700-38T>C) c.372+1904T>C (n.372+1904T>C) | gnomAD v4 |
| 5 | g.149980255T= | CA1590738275 | SLC26A2 | c.700-38T= (n.700-38T=) c.372+1904T= (n.372+1904T=) | |
| 5 | g.149980256C>T | CA2675943626 | SLC26A2 | c.700-37C>T (n.700-37C>T) c.372+1905C>T (n.372+1905C>T) | gnomAD v4 |
| 5 | g.149980259T>G | CA2675943627 | SLC26A2 | c.700-34T>G (n.700-34T>G) c.372+1908T>G (n.372+1908T>G) | gnomAD v4 |
| 5 | g.149980261del | CA2578449453 | SLC26A2 | c.700-32del (n.700-32del) c.372+1910del (n.372+1910del) | |
| 5 | g.149980260T>G | CA2675943628 | SLC26A2 | c.700-33T>G (n.700-33T>G) c.372+1909T>G (n.372+1909T>G) | gnomAD v4 |
| 5 | g.149980261T>C | CA2710256457 | SLC26A2 | c.700-32T>C (n.700-32T>C) c.372+1910T>C (n.372+1910T>C) | dbSNP |
| 5 | g.149980262A= | CA1590738276 | SLC26A2 | c.700-31A= (n.700-31A=) c.372+1911A= (n.372+1911A=) | |
| 5 | g.149980262A>C | CA563955697 | SLC26A2 | c.700-31A>C (n.700-31A>C) c.372+1911A>C (n.372+1911A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980262A>G | CA2675943629 | SLC26A2 | c.700-31A>G (n.700-31A>G) c.372+1911A>G (n.372+1911A>G) | gnomAD v4 |
| 5 | g.149980263T>C | CA3505303 | SLC26A2 | c.700-30T>C (n.700-30T>C) c.372+1912T>C (n.372+1912T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980263T= | CA1590738277 | SLC26A2 | c.700-30T= (n.700-30T=) c.372+1912T= (n.372+1912T=) | |
| 5 | g.149980264A= | CA1590738278 | SLC26A2 | c.700-29A= (n.700-29A=) c.372+1913A= (n.372+1913A=) | |
| 5 | g.149980264A>G | CA3505304 | SLC26A2 | c.700-29A>G (n.700-29A>G) c.372+1913A>G (n.372+1913A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980264_149980265delinsAT | CA1590738279 | SLC26A2 | c.700-29_700-28delinsAT (n.700-29_700-28delinsAT) c.372+1913_372+1914delinsAT (n.372+1913_372+1914delinsAT) | |
| 5 | g.149980267dup | CA2675943630 | SLC26A2 | c.700-26dup (n.700-26dup) c.372+1916dup (n.372+1916dup) | gnomAD v4 |
| 5 | g.149980267del | CA563955698 | SLC26A2 | c.700-26del (n.700-26del) c.372+1916del (n.372+1916del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980266T>A | CA2675943631 | SLC26A2 | c.700-27T>A (n.700-27T>A) c.372+1915T>A (n.372+1915T>A) | gnomAD v4 |
| 5 | g.149980267T>C | CA1590738280 | SLC26A2 | c.700-26T>C (n.700-26T>C) c.372+1916T>C (n.372+1916T>C) | dbSNP gnomAD v4 |
| 5 | g.149980267T= | CA1590738281 | SLC26A2 | c.700-26T= (n.700-26T=) c.372+1916T= (n.372+1916T=) | |
| 5 | g.149980269_149980272del | CA2675943632 | SLC26A2 | c.700-24_700-21del (n.700-24_700-21del) c.372+1918_372+1921del (n.372+1918_372+1921del) | gnomAD v4 |
| 5 | g.149980270C>A | CA2675943633 | SLC26A2 | c.700-23C>A (n.700-23C>A) c.372+1919C>A (n.372+1919C>A) | gnomAD v4 |
| 5 | g.149980270C>T | CA2675943634 | SLC26A2 | c.700-23C>T (n.700-23C>T) c.372+1919C>T (n.372+1919C>T) | gnomAD v4 |
| 5 | g.149980272C>A | CA2675943635 | SLC26A2 | c.700-21C>A (n.700-21C>A) c.372+1921C>A (n.372+1921C>A) | gnomAD v4 |
| 5 | g.149980272C= | CA1590738282 | SLC26A2 | c.700-21C= (n.700-21C=) c.372+1921C= (n.372+1921C=) | |
| 5 | g.149980272C>G | CA129083587 | SLC26A2 | c.700-21C>G (n.700-21C>G) c.372+1921C>G (n.372+1921C>G) | dbSNP |
| 5 | g.149980273T>C | CA3505305 | SLC26A2 | c.700-20T>C (n.700-20T>C) c.372+1922T>C (n.372+1922T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980273T= | CA1590738283 | SLC26A2 | c.700-20T= (n.700-20T=) c.372+1922T= (n.372+1922T=) | |
| 5 | g.149980275C= | CA1590738284 | SLC26A2 | c.700-18C= (n.700-18C=) c.372+1924C= (n.372+1924C=) | |
| 5 | g.149980275C>G | CA129083596 | SLC26A2 | c.700-18C>G (n.700-18C>G) c.372+1924C>G (n.372+1924C>G) | dbSNP gnomAD v4 |
| 5 | g.149980275C>T | CA3505306 | SLC26A2 | c.700-18C>T (n.700-18C>T) c.372+1924C>T (n.372+1924C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980275_149980276insCATT | CA2675943637 | SLC26A2 | c.700-18_700-17insCATT (n.700-18_700-17insCATT) c.372+1924_372+1925insCATT (n.372+1924_372+1925insCATT) | gnomAD v4 |
| 5 | g.149980276T>C | CA2675943636 | SLC26A2 | c.700-17T>C (n.700-17T>C) c.372+1925T>C (n.372+1925T>C) | gnomAD v4 |
| 5 | g.149980277A= | CA1590738285 | SLC26A2 | c.700-16A= (n.700-16A=) c.372+1926A= (n.372+1926A=) | |
| 5 | g.149980277A>G | CA3505307 | SLC26A2 | c.700-16A>G (n.700-16A>G) c.372+1926A>G (n.372+1926A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980278T>C | CA805557608 | SLC26A2 | c.700-15T>C (n.700-15T>C) c.372+1927T>C (n.372+1927T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980278T= | CA1590738286 | SLC26A2 | c.700-15T= (n.700-15T=) c.372+1927T= (n.372+1927T=) | |
| 5 | g.149980279A= | CA1590738287 | SLC26A2 | c.700-14A= (n.700-14A=) c.372+1928A= (n.372+1928A=) | |
| 5 | g.149980279A>G | CA3505308 | SLC26A2 | c.700-14A>G (n.700-14A>G) c.372+1928A>G (n.372+1928A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980280T>C | CA2578449454 | SLC26A2 | c.700-13T>C (n.700-13T>C) c.372+1929T>C (n.372+1929T>C) | gnomAD v4 |
| 5 | g.149980287_149980290del | CA2675943638 | SLC26A2 | c.700-6_700-3del (n.700-6_700-3del) c.372+1936_372+1939del (n.372+1936_372+1939del) | gnomAD v4 |
| 5 | g.149980281C>A | CA3505309 | SLC26A2 | c.700-12C>A (n.700-12C>A) c.372+1930C>A (n.372+1930C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980281C= | CA1590738288 | SLC26A2 | c.700-12C= (n.700-12C=) c.372+1930C= (n.372+1930C=) | |
| 5 | g.149980282C>A | CA2675943639 | SLC26A2 | c.700-11C>A (n.700-11C>A) c.372+1931C>A (n.372+1931C>A) | gnomAD v4 |
| 5 | g.149980282C= | CA1590738289 | SLC26A2 | c.700-11C= (n.700-11C=) c.372+1931C= (n.372+1931C=) | |
| 5 | g.149980282C>T | CA563955699 | SLC26A2 | c.700-11C>T (n.700-11C>T) c.372+1931C>T (n.372+1931C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980283T>C | CA2675943640 | SLC26A2 | c.700-10T>C (n.700-10T>C) c.372+1932T>C (n.372+1932T>C) | gnomAD v4 |
| 5 | g.149980285C>T | CA2580073907 | SLC26A2 | c.700-8C>T (n.700-8C>T) c.372+1934C>T (n.372+1934C>T) | ClinVar gnomAD v4 |
| 5 | g.149980288T>C | CA129083616 | SLC26A2 | c.700-5T>C (n.700-5T>C) c.372+1937T>C (n.372+1937T>C) | dbSNP |
| 5 | g.149980288T= | CA1590738290 | SLC26A2 | c.700-5T= (n.700-5T=) c.372+1937T= (n.372+1937T=) | |
| 5 | g.149980289C= | CA1590738291 | SLC26A2 | c.700-4C= (n.700-4C=) c.372+1938C= (n.372+1938C=) | |
| 5 | g.149980289C>G | CA1590738292 | SLC26A2 | c.700-4C>G (n.700-4C>G) c.372+1938C>G (n.372+1938C>G) | dbSNP gnomAD v4 |
| 5 | g.149980290C>A | CA2675943641 | SLC26A2 | c.700-3C>A (n.700-3C>A) c.372+1939C>A (n.372+1939C>A) | gnomAD v4 |
| 5 | g.149980291A= | CA1590738293 | SLC26A2 | c.700-2A= (n.700-2A=) c.372+1940A= (n.372+1940A=) | |
| 5 | g.149980291A>C | CA361706037 | SLC26A2 | c.700-2A>C (n.700-2A>C) c.372+1940A>C (n.372+1940A>C) | |
| 5 | g.149980291A>G | CA361706038 | SLC26A2 | c.700-2A>G (n.700-2A>G) c.372+1940A>G (n.372+1940A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980291A>T | CA361706040 | SLC26A2 | c.700-2A>T (n.700-2A>T) c.372+1940A>T (n.372+1940A>T) | |
| 5 | g.149980291_149980292del | CA2578449455 | SLC26A2 | c.700-2_700-1del (n.700-2_700-1del) c.372+1940_372+1941del (n.372+1940_372+1941del) | |
| 5 | g.149980292G>A | CA361706043 | SLC26A2 | c.700-1G>A (n.700-1G>A) c.372+1941G>A (n.372+1941G>A) | |
| 5 | g.149980292G>C | CA263275 | SLC26A2 | c.700-1G>C (n.700-1G>C) c.372+1941G>C (n.372+1941G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980292G= | CA1590738294 | SLC26A2 | c.700-1G= (n.700-1G=) c.372+1941G= (n.372+1941G=) | |
| 5 | g.149980292G>T | CA361706045 | SLC26A2 | c.700-1G>T (n.700-1G>T) c.372+1941G>T (n.372+1941G>T) | |
| 5 | g.149980293G>A | CA361706048 | SLC26A2 | c.700G>A (p.Val234Ile) c.372+1942G>A (n.372+1942G>A) | |
| 5 | g.149980293G>C | CA361706050 | SLC26A2 | c.700G>C (p.Val234Leu) c.372+1942G>C (n.372+1942G>C) | |
| 5 | g.149980293G>T | CA361706052 | SLC26A2 | c.700G>T (p.Val234Leu) c.372+1942G>T (n.372+1942G>T) | |
| 5 | g.149980294T>A | CA361706055 | SLC26A2 | c.701T>A (p.Val234Glu) c.372+1943T>A (n.372+1943T>A) | gnomAD v4 |
| 5 | g.149980294T>C | CA361706056 | SLC26A2 | c.701T>C (p.Val234Ala) c.372+1943T>C (n.372+1943T>C) | |
| 5 | g.149980294T>G | CA361706058 | SLC26A2 | c.701T>G (p.Val234Gly) c.372+1943T>G (n.372+1943T>G) | |
| 5 | g.149980295A= | CA1590738295 | SLC26A2 | c.702A= (p.Val234=) c.372+1944A= (n.372+1944A=) | |
| 5 | g.149980295A>C | CA447401874 | SLC26A2 | c.702A>C (p.Val234=) c.372+1944A>C (n.372+1944A>C) | |
| 5 | g.149980295A>G | CA3505310 | SLC26A2 | c.702A>G (p.Val234=) c.372+1944A>G (n.372+1944A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980295A>T | CA447401875 | SLC26A2 | c.702A>T (p.Val234=) c.372+1944A>T (n.372+1944A>T) | |
| 5 | g.149980295_149980302delinsAGCGATGG | CA1590738296 | SLC26A2 | c.702_709delinsAGCGATGG (p.Val234=) c.372+1944_372+1951delinsAGCGATGG (n.372+1944_372+1951delinsAGCGATGG) | |
| 5 | g.149980296G>A | CA361706066 | SLC26A2 | c.703G>A (p.Ala235Thr) c.372+1945G>A (n.372+1945G>A) | gnomAD v4 |
| 5 | g.149980296G>C | CA361706068 | SLC26A2 | c.703G>C (p.Ala235Pro) c.372+1945G>C (n.372+1945G>C) | |
| 5 | g.149980296G>T | CA361706063 | SLC26A2 | c.703G>T (p.Ala235Ser) c.372+1945G>T (n.372+1945G>T) | |
| 5 | g.149980298_149980304del | CA263276 | SLC26A2 | c.705_711del (p.Met236SerfsTer16) c.372+1947_372+1953del (n.372+1947_372+1953del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980297C>A | CA361706070 | SLC26A2 | c.704C>A (p.Ala235Glu) c.372+1946C>A (n.372+1946C>A) | |
| 5 | g.149980297C= | CA1590738297 | SLC26A2 | c.704C= (p.Ala235=) c.372+1946C= (n.372+1946C=) | |
| 5 | g.149980297C>G | CA361706071 | SLC26A2 | c.704C>G (p.Ala235Gly) c.372+1946C>G (n.372+1946C>G) | |
| 5 | g.149980297C>T | CA3505311 | SLC26A2 | c.704C>T (p.Ala235Val) c.372+1946C>T (n.372+1946C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149980298G>A | CA3505312 | SLC26A2 | c.705G>A (p.Ala235=) c.372+1947G>A (n.372+1947G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980298G>C | CA447401881 | SLC26A2 | c.705G>C (p.Ala235=) c.372+1947G>C (n.372+1947G>C) | |
| 5 | g.149980298G= | CA1590738298 | SLC26A2 | c.705G= (p.Ala235=) c.372+1947G= (n.372+1947G=) | |
| 5 | g.149980298G>T | CA447401882 | SLC26A2 | c.705G>T (p.Ala235=) c.372+1947G>T (n.372+1947G>T) | |
| 5 | g.149980299A= | CA1590738299 | SLC26A2 | c.706A= (p.Met236=) c.372+1948A= (n.372+1948A=) | |
| 5 | g.149980299A>C | CA361706075 | SLC26A2 | c.706A>C (p.Met236Leu) c.372+1948A>C (n.372+1948A>C) | |
| 5 | g.149980299A>G | CA129083662 | SLC26A2 | c.706A>G (p.Met236Val) c.372+1948A>G (n.372+1948A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980299A>T | CA361706078 | SLC26A2 | c.706A>T (p.Met236Leu) c.372+1948A>T (n.372+1948A>T) | |
| 5 | g.149980300T>A | CA361706083 | SLC26A2 | c.707T>A (p.Met236Lys) c.372+1949T>A (n.372+1949T>A) | |
| 5 | g.149980300T>C | CA129083667 | SLC26A2 | c.707T>C (p.Met236Thr) c.372+1949T>C (n.372+1949T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980300T>G | CA361706081 | SLC26A2 | c.707T>G (p.Met236Arg) c.372+1949T>G (n.372+1949T>G) | |
| 5 | g.149980300T= | CA1590738300 | SLC26A2 | c.707T= (p.Met236=) c.372+1949T= (n.372+1949T=) | |
| 5 | g.149980301G>A | CA361706085 | SLC26A2 | c.708G>A (p.Met236Ile) c.372+1950G>A (n.372+1950G>A) | |
| 5 | g.149980301G>C | CA361706087 | SLC26A2 | c.708G>C (p.Met236Ile) c.372+1950G>C (n.372+1950G>C) | |
| 5 | g.149980301G>T | CA361706089 | SLC26A2 | c.708G>T (p.Met236Ile) c.372+1950G>T (n.372+1950G>T) | |
| 5 | g.149980302G>A | CA3505313 | SLC26A2 | c.709G>A (p.Gly237Ser) c.372+1951G>A (n.372+1951G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980302G>C | CA361706092 | SLC26A2 | c.709G>C (p.Gly237Arg) c.372+1951G>C (n.372+1951G>C) | |
| 5 | g.149980302G= | CA1590738301 | SLC26A2 | c.709G= (p.Gly237=) c.372+1951G= (n.372+1951G=) | |
| 5 | g.149980302G>T | CA361706094 | SLC26A2 | c.709G>T (p.Gly237Cys) c.372+1951G>T (n.372+1951G>T) | |
| 5 | g.149980303G>A | CA361706095 | SLC26A2 | c.710G>A (p.Gly237Asp) c.372+1952G>A (n.372+1952G>A) | |
| 5 | g.149980303G>C | CA361706097 | SLC26A2 | c.710G>C (p.Gly237Ala) c.372+1952G>C (n.372+1952G>C) | |
| 5 | g.149980303G= | CA1590738302 | SLC26A2 | c.710G= (p.Gly237=) c.372+1952G= (n.372+1952G=) | |
| 5 | g.149980303G>T | CA361706096 | SLC26A2 | c.710G>T (p.Gly237Val) c.372+1952G>T (n.372+1952G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980303_149980306delinsGCTT | CA1590738303 | SLC26A2 | c.710_713delinsGCTT (p.Gly237=) c.372+1952_372+1955delinsGCTT (n.372+1952_372+1955delinsGCTT) | |
| 5 | g.149980304C>A | CA447401893 | SLC26A2 | c.711C>A (p.Gly237=) c.372+1953C>A (n.372+1953C>A) | |
| 5 | g.149980304C= | CA1590738304 | SLC26A2 | c.711C= (p.Gly237=) c.372+1953C= (n.372+1953C=) | |
| 5 | g.149980304C>G | CA447401896 | SLC26A2 | c.711C>G (p.Gly237=) c.372+1953C>G (n.372+1953C>G) | |
| 5 | g.149980304C>T | CA3505314 | SLC26A2 | c.711C>T (p.Gly237=) c.372+1953C>T (n.372+1953C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980307_149980309del | CA361706098 | SLC26A2 | c.714_716del (p.Phe239del) c.372+1956_372+1958del (n.372+1956_372+1958del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980305T>A | CA361706100 | SLC26A2 | c.712T>A (p.Phe238Ile) c.372+1954T>A (n.372+1954T>A) | |
| 5 | g.149980305T>C | CA361706099 | SLC26A2 | c.712T>C (p.Phe238Leu) c.372+1954T>C (n.372+1954T>C) | |
| 5 | g.149980305T>G | CA3505315 | SLC26A2 | c.712T>G (p.Phe238Val) c.372+1954T>G (n.372+1954T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980305T= | CA1590738305 | SLC26A2 | c.712T= (p.Phe238=) c.372+1954T= (n.372+1954T=) | |
| 5 | g.149980306T>A | CA361706101 | SLC26A2 | c.713T>A (p.Phe238Tyr) c.372+1955T>A (n.372+1955T>A) | |
| 5 | g.149980306T>C | CA361706103 | SLC26A2 | c.713T>C (p.Phe238Ser) c.372+1955T>C (n.372+1955T>C) | |
| 5 | g.149980306T>G | CA361706102 | SLC26A2 | c.713T>G (p.Phe238Cys) c.372+1955T>G (n.372+1955T>G) | |
| 5 | g.149980307C>A | CA361706104 | SLC26A2 | c.714C>A (p.Phe238Leu) c.372+1956C>A (n.372+1956C>A) | |
| 5 | g.149980307C>G | CA361706105 | SLC26A2 | c.714C>G (p.Phe238Leu) c.372+1956C>G (n.372+1956C>G) | |
| 5 | g.149980307C>T | CA447401904 | SLC26A2 | c.714C>T (p.Phe238=) c.372+1956C>T (n.372+1956C>T) | |
| 5 | g.149980308T>A | CA361706106 | SLC26A2 | c.715T>A (p.Phe239Ile) c.372+1957T>A (n.372+1957T>A) | |
| 5 | g.149980308T>C | CA129083697 | SLC26A2 | c.715T>C (p.Phe239Leu) c.372+1957T>C (n.372+1957T>C) | dbSNP |
| 5 | g.149980308T>G | CA361706107 | SLC26A2 | c.715T>G (p.Phe239Val) c.372+1957T>G (n.372+1957T>G) | |
| 5 | g.149980308T= | CA1590738306 | SLC26A2 | c.715T= (p.Phe239=) c.372+1957T= (n.372+1957T=) | |
| 5 | g.149980309T>A | CA361706108 | SLC26A2 | c.716T>A (p.Phe239Tyr) c.372+1958T>A (n.372+1958T>A) | |
| 5 | g.149980309T>C | CA361706109 | SLC26A2 | c.716T>C (p.Phe239Ser) c.372+1958T>C (n.372+1958T>C) | |
| 5 | g.149980309T>G | CA361706110 | SLC26A2 | c.716T>G (p.Phe239Cys) c.372+1958T>G (n.372+1958T>G) | |
| 5 | g.149980310T>A | CA361706111 | SLC26A2 | c.717T>A (p.Phe239Leu) c.372+1959T>A (n.372+1959T>A) | |
| 5 | g.149980310T>C | CA447401908 | SLC26A2 | c.717T>C (p.Phe239=) c.372+1959T>C (n.372+1959T>C) | |
| 5 | g.149980310T>G | CA361706112 | SLC26A2 | c.717T>G (p.Phe239Leu) c.372+1959T>G (n.372+1959T>G) | |
| 5 | g.149980311C>A | CA361706113 | SLC26A2 | c.718C>A (p.Gln240Lys) c.372+1960C>A (n.372+1960C>A) | |
| 5 | g.149980311C= | CA1590738307 | SLC26A2 | c.718C= (p.Gln240=) c.372+1960C= (n.372+1960C=) | |
| 5 | g.149980311C>G | CA361706114 | SLC26A2 | c.718C>G (p.Gln240Glu) c.372+1960C>G (n.372+1960C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980311C>T | CA361706115 | SLC26A2 | c.718C>T (p.Gln240Ter) c.372+1960C>T (n.372+1960C>T) | |
| 5 | g.149980312A>C | CA361706118 | SLC26A2 | c.719A>C (p.Gln240Pro) c.372+1961A>C (n.372+1961A>C) | |
| 5 | g.149980312A>G | CA361706116 | SLC26A2 | c.719A>G (p.Gln240Arg) c.372+1961A>G (n.372+1961A>G) | |
| 5 | g.149980312A>T | CA361706117 | SLC26A2 | c.719A>T (p.Gln240Leu) c.372+1961A>T (n.372+1961A>T) | ClinVar gnomAD v4 |
| 5 | g.149980313A= | CA1590738308 | SLC26A2 | c.720A= (p.Gln240=) c.372+1962A= (n.372+1962A=) | |
| 5 | g.149980313A>C | CA361706119 | SLC26A2 | c.720A>C (p.Gln240His) c.372+1962A>C (n.372+1962A>C) | |
| 5 | g.149980313A>G | CA447401916 | SLC26A2 | c.720A>G (p.Gln240=) c.372+1962A>G (n.372+1962A>G) | dbSNP gnomAD v4 |
| 5 | g.149980313A>T | CA361706120 | SLC26A2 | c.720A>T (p.Gln240His) c.372+1962A>T (n.372+1962A>T) | |
| 5 | g.149980314G>A | CA361706121 | SLC26A2 | c.721G>A (p.Val241Met) c.372+1963G>A (n.372+1963G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980314G>C | CA361706122 | SLC26A2 | c.721G>C (p.Val241Leu) c.372+1963G>C (n.372+1963G>C) | |
| 5 | g.149980314G= | CA1590738309 | SLC26A2 | c.721G= (p.Val241=) c.372+1963G= (n.372+1963G=) | |
| 5 | g.149980314G>T | CA361706123 | SLC26A2 | c.721G>T (p.Val241Leu) c.372+1963G>T (n.372+1963G>T) | |
| 5 | g.149980315T>A | CA361706124 | SLC26A2 | c.722T>A (p.Val241Glu) c.372+1964T>A (n.372+1964T>A) | |
| 5 | g.149980315T>C | CA361706125 | SLC26A2 | c.722T>C (p.Val241Ala) c.372+1964T>C (n.372+1964T>C) | |
| 5 | g.149980315T>G | CA361706126 | SLC26A2 | c.722T>G (p.Val241Gly) c.372+1964T>G (n.372+1964T>G) | |
| 5 | g.149980316G>A | CA447401921 | SLC26A2 | c.723G>A (p.Val241=) c.372+1965G>A (n.372+1965G>A) | |
| 5 | g.149980316G>C | CA447401923 | SLC26A2 | c.723G>C (p.Val241=) c.372+1965G>C (n.372+1965G>C) | |
| 5 | g.149980316G>T | CA447401922 | SLC26A2 | c.723G>T (p.Val241=) c.372+1965G>T (n.372+1965G>T) | |
| 5 | g.149980317G>A | CA361706127 | SLC26A2 | c.724G>A (p.Gly242Ser) c.372+1966G>A (n.372+1966G>A) | |
| 5 | g.149980317G>C | CA361706128 | SLC26A2 | c.724G>C (p.Gly242Arg) c.372+1966G>C (n.372+1966G>C) | |
| 5 | g.149980317G>T | CA361706129 | SLC26A2 | c.724G>T (p.Gly242Cys) c.372+1966G>T (n.372+1966G>T) | |
| 5 | g.149980318G>A | CA361706131 | SLC26A2 | c.725G>A (p.Gly242Asp) c.372+1967G>A (n.372+1967G>A) | gnomAD v4 |
| 5 | g.149980318G>C | CA361706132 | SLC26A2 | c.725G>C (p.Gly242Ala) c.372+1967G>C (n.372+1967G>C) | |
| 5 | g.149980318G>T | CA361706130 | SLC26A2 | c.725G>T (p.Gly242Val) c.372+1967G>T (n.372+1967G>T) | ClinVar |
| 5 | g.149980319T>A | CA447401932 | SLC26A2 | c.726T>A (p.Gly242=) c.372+1968T>A (n.372+1968T>A) | |
| 5 | g.149980319T>C | CA447401931 | SLC26A2 | c.726T>C (p.Gly242=) c.372+1968T>C (n.372+1968T>C) | |
| 5 | g.149980319T>G | CA447401930 | SLC26A2 | c.726T>G (p.Gly242=) c.372+1968T>G (n.372+1968T>G) | |
| 5 | g.149980320T>A | CA361706133 | SLC26A2 | c.727T>A (p.Phe243Ile) c.372+1969T>A (n.372+1969T>A) | |
| 5 | g.149980320T>C | CA361706134 | SLC26A2 | c.727T>C (p.Phe243Leu) c.372+1969T>C (n.372+1969T>C) | |
| 5 | g.149980320T>G | CA361706135 | SLC26A2 | c.727T>G (p.Phe243Val) c.372+1969T>G (n.372+1969T>G) | |
| 5 | g.149980321T>A | CA361706136 | SLC26A2 | c.728T>A (p.Phe243Tyr) c.372+1970T>A (n.372+1970T>A) | |
| 5 | g.149980321T>C | CA361706137 | SLC26A2 | c.728T>C (p.Phe243Ser) c.372+1970T>C (n.372+1970T>C) | |
| 5 | g.149980321T>G | CA361706138 | SLC26A2 | c.728T>G (p.Phe243Cys) c.372+1970T>G (n.372+1970T>G) | |
| 5 | g.149980322T>A | CA361706139 | SLC26A2 | c.729T>A (p.Phe243Leu) c.372+1971T>A (n.372+1971T>A) | |
| 5 | g.149980322T>C | CA447401937 | SLC26A2 | c.729T>C (p.Phe243=) c.372+1971T>C (n.372+1971T>C) | |
| 5 | g.149980322T>G | CA361706140 | SLC26A2 | c.729T>G (p.Phe243Leu) c.372+1971T>G (n.372+1971T>G) | dbSNP gnomAD v4 |
| 5 | g.149980322T= | CA1590738310 | SLC26A2 | c.729T= (p.Phe243=) c.372+1971T= (n.372+1971T=) | |
| 5 | g.149980323G>A | CA361706141 | SLC26A2 | c.730G>A (p.Val244Ile) c.372+1972G>A (n.372+1972G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980323G>C | CA361706142 | SLC26A2 | c.730G>C (p.Val244Leu) c.372+1972G>C (n.372+1972G>C) | gnomAD v4 |
| 5 | g.149980323G= | CA1590738311 | SLC26A2 | c.730G= (p.Val244=) c.372+1972G= (n.372+1972G=) | |
| 5 | g.149980323G>T | CA361706143 | SLC26A2 | c.730G>T (p.Val244Phe) c.372+1972G>T (n.372+1972G>T) | gnomAD v4 |
| 5 | g.149980324T>A | CA361706145 | SLC26A2 | c.731T>A (p.Val244Asp) c.372+1973T>A (n.372+1973T>A) | |
| 5 | g.149980324T>C | CA361706146 | SLC26A2 | c.731T>C (p.Val244Ala) c.372+1973T>C (n.372+1973T>C) | |
| 5 | g.149980324T>G | CA361706144 | SLC26A2 | c.731T>G (p.Val244Gly) c.372+1973T>G (n.372+1973T>G) | |
| 5 | g.149980325T>A | CA447401945 | SLC26A2 | c.732T>A (p.Val244=) c.372+1974T>A (n.372+1974T>A) | |
| 5 | g.149980325T>C | CA447401947 | SLC26A2 | c.732T>C (p.Val244=) c.372+1974T>C (n.372+1974T>C) | ClinVar dbSNP |
| 5 | g.149980325T>G | CA447401948 | SLC26A2 | c.732T>G (p.Val244=) c.372+1974T>G (n.372+1974T>G) | |
| 5 | g.149980325_149980329delinsTTCTG | CA1590738312 | SLC26A2 | c.732_736delinsTTCTG (p.Val244=) c.372+1974_372+1978delinsTTCTG (n.372+1974_372+1978delinsTTCTG) | |
| 5 | g.149980326T>A | CA361706147 | SLC26A2 | c.733T>A (p.Ser245Thr) c.372+1975T>A (n.372+1975T>A) | |
| 5 | g.149980326T>C | CA361706148 | SLC26A2 | c.733T>C (p.Ser245Pro) c.372+1975T>C (n.372+1975T>C) | |
| 5 | g.149980326T>G | CA361706149 | SLC26A2 | c.733T>G (p.Ser245Ala) c.372+1975T>G (n.372+1975T>G) | |
| 5 | g.149980329_149980332del | CA16040990 | SLC26A2 | c.736_739del (p.Val246ThrfsTer7) c.372+1978_372+1981del (n.372+1978_372+1981del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980327C>A | CA361706150 | SLC26A2 | c.734C>A (p.Ser245Tyr) c.372+1976C>A (n.372+1976C>A) | |
| 5 | g.149980327C>G | CA361706151 | SLC26A2 | c.734C>G (p.Ser245Cys) c.372+1976C>G (n.372+1976C>G) | |
| 5 | g.149980327C>T | CA361706152 | SLC26A2 | c.734C>T (p.Ser245Phe) c.372+1976C>T (n.372+1976C>T) | |
| 5 | g.149980328T>A | CA447401955 | SLC26A2 | c.735T>A (p.Ser245=) c.372+1977T>A (n.372+1977T>A) | |
| 5 | g.149980328T>C | CA447401956 | SLC26A2 | c.735T>C (p.Ser245=) c.372+1977T>C (n.372+1977T>C) | dbSNP |
| 5 | g.149980328T>G | CA447401957 | SLC26A2 | c.735T>G (p.Ser245=) c.372+1977T>G (n.372+1977T>G) | |
| 5 | g.149980328T= | CA1590738313 | SLC26A2 | c.735T= (p.Ser245=) c.372+1977T= (n.372+1977T=) |