Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107767778A= | CA1732790147 | SLC26A3 | c.2193T= (p.Phe731=) c.*1750T= (n.*1750T=) | |
7 | g.107767778A>C | CA368849524 | SLC26A3 | c.2193T>G (p.Phe731Leu) c.*1750T>G (n.*1750T>G) | dbSNP gnomAD v4 |
7 | g.107767778A>G | CA4433558 | SLC26A3 | c.2193T>C (p.Phe731=) c.*1750T>C (n.*1750T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107767778A>T | CA368849525 | SLC26A3 | c.2193T>A (p.Phe731Leu) c.*1750T>A (n.*1750T>A) | |
7 | g.107767779A>C | CA368849526 | SLC26A3 | c.2192T>G (p.Phe731Cys) c.*1749T>G (n.*1749T>G) | |
7 | g.107767779A>G | CA368849527 | SLC26A3 | c.2192T>C (p.Phe731Ser) c.*1749T>C (n.*1749T>C) | |
7 | g.107767779A>T | CA368849528 | SLC26A3 | c.2192T>A (p.Phe731Tyr) c.*1749T>A (n.*1749T>A) | |
7 | g.107767780A>C | CA368849529 | SLC26A3 | c.2191T>G (p.Phe731Val) c.*1748T>G (n.*1748T>G) | |
7 | g.107767780A>G | CA368849530 | SLC26A3 | c.2191T>C (p.Phe731Leu) c.*1748T>C (n.*1748T>C) | |
7 | g.107767780A>T | CA368849531 | SLC26A3 | c.2191T>A (p.Phe731Ile) c.*1748T>A (n.*1748T>A) | |
7 | g.107767781C>A | CA368849532 | SLC26A3 | c.2190G>T (p.Lys730Asn) c.*1747G>T (n.*1747G>T) | |
7 | g.107767781C>G | CA368849533 | SLC26A3 | c.2190G>C (p.Lys730Asn) c.*1747G>C (n.*1747G>C) | ClinVar gnomAD v4 |
7 | g.107767781C>T | CA457205869 | SLC26A3 | c.2190G>A (p.Lys730=) c.*1747G>A (n.*1747G>A) | gnomAD v4 |
7 | g.107767782T>A | CA368849534 | SLC26A3 | c.2189A>T (p.Lys730Met) c.*1746A>T (n.*1746A>T) | |
7 | g.107767782T>C | CA368849536 | SLC26A3 | c.2189A>G (p.Lys730Arg) c.*1746A>G (n.*1746A>G) | |
7 | g.107767782T>G | CA368849535 | SLC26A3 | c.2189A>C (p.Lys730Thr) c.*1746A>C (n.*1746A>C) | |
7 | g.107767783T>A | CA368849537 | SLC26A3 | c.2188A>T (p.Lys730Ter) c.*1745A>T (n.*1745A>T) | |
7 | g.107767783T>C | CA368849538 | SLC26A3 | c.2188A>G (p.Lys730Glu) c.*1745A>G (n.*1745A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767783T>G | CA368849539 | SLC26A3 | c.2188A>C (p.Lys730Gln) c.*1745A>C (n.*1745A>C) | |
7 | g.107767783T= | CA1732790150 | SLC26A3 | c.2188A= (p.Lys730=) c.*1745A= (n.*1745A=) | |
7 | g.107767784T>A | CA457205875 | SLC26A3 | c.2187A>T (p.Ser729=) c.*1744A>T (n.*1744A>T) | |
7 | g.107767784T>C | CA457205873 | SLC26A3 | c.2187A>G (p.Ser729=) c.*1744A>G (n.*1744A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767784T>G | CA457205874 | SLC26A3 | c.2187A>C (p.Ser729=) c.*1744A>C (n.*1744A>C) | |
7 | g.107767784T= | CA1732790151 | SLC26A3 | c.2187A= (p.Ser729=) c.*1744A= (n.*1744A=) | |
7 | g.107767785G>A | CA368849540 | SLC26A3 | c.2186C>T (p.Ser729Leu) c.*1743C>T (n.*1743C>T) | |
7 | g.107767785G>C | CA368849541 | SLC26A3 | c.2186C>G (p.Ser729Ter) c.*1743C>G (n.*1743C>G) | |
7 | g.107767785G>T | CA368849542 | SLC26A3 | c.2186C>A (p.Ser729Ter) c.*1743C>A (n.*1743C>A) | |
7 | g.107767786A= | CA1732790153 | SLC26A3 | c.2185T= (p.Ser729=) c.*1742T= (n.*1742T=) | |
7 | g.107767786A>C | CA368849543 | SLC26A3 | c.2185T>G (p.Ser729Ala) c.*1742T>G (n.*1742T>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767786A>G | CA368849544 | SLC26A3 | c.2185T>C (p.Ser729Pro) c.*1742T>C (n.*1742T>C) | |
7 | g.107767786A>T | CA368849545 | SLC26A3 | c.2185T>A (p.Ser729Thr) c.*1742T>A (n.*1742T>A) | gnomAD v4 |
7 | g.107767787A= | CA1732790155 | SLC26A3 | c.2184T= (p.Thr728=) c.*1741T= (n.*1741T=) | |
7 | g.107767787A>C | CA164223433 | SLC26A3 | c.2184T>G (p.Thr728=) c.*1741T>G (n.*1741T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107767787A>G | CA457205878 | SLC26A3 | c.2184T>C (p.Thr728=) c.*1741T>C (n.*1741T>C) | |
7 | g.107767787A>T | CA4433559 | SLC26A3 | c.2184T>A (p.Thr728=) c.*1741T>A (n.*1741T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107767788G>A | CA368849547 | SLC26A3 | c.2183C>T (p.Thr728Ile) c.*1740C>T (n.*1740C>T) | |
7 | g.107767788G>C | CA368849548 | SLC26A3 | c.2183C>G (p.Thr728Ser) c.*1740C>G (n.*1740C>G) | |
7 | g.107767788G>T | CA368849546 | SLC26A3 | c.2183C>A (p.Thr728Asn) c.*1740C>A (n.*1740C>A) | |
7 | g.107767789T>A | CA368849549 | SLC26A3 | c.2182A>T (p.Thr728Ser) c.*1739A>T (n.*1739A>T) | |
7 | g.107767789T>C | CA368849550 | SLC26A3 | c.2182A>G (p.Thr728Ala) c.*1739A>G (n.*1739A>G) | |
7 | g.107767789T>G | CA368849551 | SLC26A3 | c.2182A>C (p.Thr728Pro) c.*1739A>C (n.*1739A>C) | |
7 | g.107767790A>C | CA368849552 | SLC26A3 | c.2181T>G (p.Ser727Arg) c.*1738T>G (n.*1738T>G) | |
7 | g.107767790A>G | CA457205883 | SLC26A3 | c.2181T>C (p.Ser727=) c.*1738T>C (n.*1738T>C) | |
7 | g.107767790A>T | CA368849553 | SLC26A3 | c.2181T>A (p.Ser727Arg) c.*1738T>A (n.*1738T>A) | |
7 | g.107767791C>A | CA368849554 | SLC26A3 | c.2180G>T (p.Ser727Ile) c.*1737G>T (n.*1737G>T) | |
7 | g.107767791C>G | CA368849555 | SLC26A3 | c.2180G>C (p.Ser727Thr) c.*1737G>C (n.*1737G>C) | gnomAD v4 |
7 | g.107767791C>T | CA368849556 | SLC26A3 | c.2180G>A (p.Ser727Asn) c.*1737G>A (n.*1737G>A) | |
7 | g.107767792T>A | CA368849557 | SLC26A3 | c.2179A>T (p.Ser727Cys) c.*1736A>T (n.*1736A>T) | |
7 | g.107767792T>C | CA368849558 | SLC26A3 | c.2179A>G (p.Ser727Gly) c.*1736A>G (n.*1736A>G) | |
7 | g.107767792T>G | CA368849559 | SLC26A3 | c.2179A>C (p.Ser727Arg) c.*1736A>C (n.*1736A>C) |