Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107767768G>A | CA368849500 | SLC26A3 | c.2203C>T (p.Gln735Ter) c.*1760C>T (n.*1760C>T) | |
7 | g.107767768G>C | CA368849501 | SLC26A3 | c.2203C>G (p.Gln735Glu) c.*1760C>G (n.*1760C>G) | |
7 | g.107767768G>T | CA368849502 | SLC26A3 | c.2203C>A (p.Gln735Lys) c.*1760C>A (n.*1760C>A) | |
7 | g.107767769A>C | CA368849503 | SLC26A3 | c.2202T>G (p.Ser734Arg) c.*1759T>G (n.*1759T>G) | |
7 | g.107767769A>G | CA457205849 | SLC26A3 | c.2202T>C (p.Ser734=) c.*1759T>C (n.*1759T>C) | gnomAD v4 |
7 | g.107767769A>T | CA368849504 | SLC26A3 | c.2202T>A (p.Ser734Arg) c.*1759T>A (n.*1759T>A) | |
7 | g.107767770C>A | CA368849505 | SLC26A3 | c.2201G>T (p.Ser734Ile) c.*1758G>T (n.*1758G>T) | |
7 | g.107767770C>G | CA368849507 | SLC26A3 | c.2201G>C (p.Ser734Thr) c.*1758G>C (n.*1758G>C) | |
7 | g.107767770C>T | CA368849506 | SLC26A3 | c.2201G>A (p.Ser734Asn) c.*1758G>A (n.*1758G>A) | |
7 | g.107767771T>A | CA368849508 | SLC26A3 | c.2200A>T (p.Ser734Cys) c.*1757A>T (n.*1757A>T) | |
7 | g.107767771T>C | CA368849509 | SLC26A3 | c.2200A>G (p.Ser734Gly) c.*1757A>G (n.*1757A>G) | |
7 | g.107767771T>G | CA368849510 | SLC26A3 | c.2200A>C (p.Ser734Arg) c.*1757A>C (n.*1757A>C) | |
7 | g.107767771_107767772del | CA2777358104 | SLC26A3 | c.2199_2200del (p.Gln735GlyfsTer7) c.*1756_*1757del (n.*1756_*1757del) | |
7 | g.107767772G>A | CA457205853 | SLC26A3 | c.2199C>T (p.Pro733=) c.*1756C>T (n.*1756C>T) | |
7 | g.107767772G>C | CA457205855 | SLC26A3 | c.2199C>G (p.Pro733=) c.*1756C>G (n.*1756C>G) | |
7 | g.107767772G>T | CA457205856 | SLC26A3 | c.2199C>A (p.Pro733=) c.*1756C>A (n.*1756C>A) | |
7 | g.107767773G>A | CA4433557 | SLC26A3 | c.2198C>T (p.Pro733Leu) c.*1755C>T (n.*1755C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107767773G>C | CA368849511 | SLC26A3 | c.2198C>G (p.Pro733Arg) c.*1755C>G (n.*1755C>G) | |
7 | g.107767773G= | CA1732790143 | SLC26A3 | c.2198C= (p.Pro733=) c.*1755C= (n.*1755C=) | |
7 | g.107767773G>T | CA368849512 | SLC26A3 | c.2198C>A (p.Pro733His) c.*1755C>A (n.*1755C>A) | |
7 | g.107767774G>A | CA368849513 | SLC26A3 | c.2197C>T (p.Pro733Ser) c.*1754C>T (n.*1754C>T) | |
7 | g.107767774G>C | CA368849514 | SLC26A3 | c.2197C>G (p.Pro733Ala) c.*1754C>G (n.*1754C>G) | |
7 | g.107767774G>T | CA368849515 | SLC26A3 | c.2197C>A (p.Pro733Thr) c.*1754C>A (n.*1754C>A) | dbSNP |
7 | g.107767775A>C | CA368849516 | SLC26A3 | c.2196T>G (p.Asn732Lys) c.*1753T>G (n.*1753T>G) | |
7 | g.107767775A>G | CA457205861 | SLC26A3 | c.2196T>C (p.Asn732=) c.*1753T>C (n.*1753T>C) | |
7 | g.107767775A>T | CA368849517 | SLC26A3 | c.2196T>A (p.Asn732Lys) c.*1753T>A (n.*1753T>A) | |
7 | g.107767776T>A | CA368849519 | SLC26A3 | c.2195A>T (p.Asn732Ile) c.*1752A>T (n.*1752A>T) | |
7 | g.107767776T>C | CA368849520 | SLC26A3 | c.2195A>G (p.Asn732Ser) c.*1752A>G (n.*1752A>G) | |
7 | g.107767776T>G | CA368849518 | SLC26A3 | c.2195A>C (p.Asn732Thr) c.*1752A>C (n.*1752A>C) | |
7 | g.107767777T>A | CA368849523 | SLC26A3 | c.2194A>T (p.Asn732Tyr) c.*1751A>T (n.*1751A>T) | |
7 | g.107767777T>C | CA368849521 | SLC26A3 | c.2194A>G (p.Asn732Asp) c.*1751A>G (n.*1751A>G) | |
7 | g.107767777T>G | CA368849522 | SLC26A3 | c.2194A>C (p.Asn732His) c.*1751A>C (n.*1751A>C) | |
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 |