| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107767763T>C | CA144089 | SLC26A3 | c.2205+3A>G (n.2205+3A>G) c.*1762+3A>G (n.*1762+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107767763T= | CA1732790135 | SLC26A3 | c.2205+3A= (n.2205+3A=) c.*1762+3A= (n.*1762+3A=) | |
| 7 | g.107767764A>C | CA368849492 | SLC26A3 | c.2205+2T>G (n.2205+2T>G) c.*1762+2T>G (n.*1762+2T>G) | |
| 7 | g.107767764A>G | CA368849491 | SLC26A3 | c.2205+2T>C (n.2205+2T>C) c.*1762+2T>C (n.*1762+2T>C) | |
| 7 | g.107767764A>T | CA368849490 | SLC26A3 | c.2205+2T>A (n.2205+2T>A) c.*1762+2T>A (n.*1762+2T>A) | |
| 7 | g.107767764dup | CA2684464226 | SLC26A3 | c.2205+2dup (n.2205+2dup) c.*1762+2dup (n.*1762+2dup) | gnomAD v4 |
| 7 | g.107767765C>A | CA368849493 | SLC26A3 | c.2205+1G>T (n.2205+1G>T) c.*1762+1G>T (n.*1762+1G>T) | |
| 7 | g.107767765C= | CA1732790137 | SLC26A3 | c.2205+1G= (n.2205+1G=) c.*1762+1G= (n.*1762+1G=) | |
| 7 | g.107767765C>G | CA4433556 | SLC26A3 | c.2205+1G>C (n.2205+1G>C) c.*1762+1G>C (n.*1762+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107767765C>T | CA368849494 | SLC26A3 | c.2205+1G>A (n.2205+1G>A) c.*1762+1G>A (n.*1762+1G>A) | COSMIC |
| 7 | g.107767766C>A | CA368849495 | SLC26A3 | c.2205G>T (p.Gln735His) c.*1762G>T (n.*1762G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107767766C= | CA1732790139 | SLC26A3 | c.2205G= (p.Gln735=) c.*1762G= (n.*1762G=) | |
| 7 | g.107767766C>G | CA368849496 | SLC26A3 | c.2205G>C (p.Gln735His) c.*1762G>C (n.*1762G>C) | |
| 7 | g.107767766C>T | CA457205847 | SLC26A3 | c.2205G>A (p.Gln735=) c.*1762G>A (n.*1762G>A) | gnomAD v4 COSMIC |
| 7 | g.107767767T>A | CA368849497 | SLC26A3 | c.2204A>T (p.Gln735Leu) c.*1761A>T (n.*1761A>T) | |
| 7 | g.107767767T>C | CA368849498 | SLC26A3 | c.2204A>G (p.Gln735Arg) c.*1761A>G (n.*1761A>G) | |
| 7 | g.107767767T>G | CA368849499 | SLC26A3 | c.2204A>C (p.Gln735Pro) c.*1761A>C (n.*1761A>C) | |
| 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.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 |