Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107767577A= | CA1732789967 | SLC26A3 | c.2271+2T= (n.2271+2T=) c.*1828+2T= (n.*1828+2T=) | |
7 | g.107767577A>C | CA368849333 | SLC26A3 | c.2271+2T>G (n.2271+2T>G) c.*1828+2T>G (n.*1828+2T>G) | |
7 | g.107767577A>G | CA368849334 | SLC26A3 | c.2271+2T>C (n.2271+2T>C) c.*1828+2T>C (n.*1828+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107767577A>T | CA368849335 | SLC26A3 | c.2271+2T>A (n.2271+2T>A) c.*1828+2T>A (n.*1828+2T>A) | gnomAD v4 |
7 | g.107767577dup | CA918098493 | SLC26A3 | c.2271+2dup (n.2271+2dup) c.*1828+2dup (n.*1828+2dup) | dbSNP |
7 | g.107767578C>A | CA368849336 | SLC26A3 | c.2271+1G>T (n.2271+1G>T) c.*1828+1G>T (n.*1828+1G>T) | |
7 | g.107767578C>G | CA368849337 | SLC26A3 | c.2271+1G>C (n.2271+1G>C) c.*1828+1G>C (n.*1828+1G>C) | |
7 | g.107767578C>T | CA368849338 | SLC26A3 | c.2271+1G>A (n.2271+1G>A) c.*1828+1G>A (n.*1828+1G>A) | |
7 | g.107767579C>A | CA368849339 | SLC26A3 | c.2271G>T (p.Glu757Asp) c.*1828G>T (n.*1828G>T) | |
7 | g.107767579C= | CA1732789970 | SLC26A3 | c.2271G= (p.Glu757=) c.*1828G= (n.*1828G=) | |
7 | g.107767579C>G | CA368849340 | SLC26A3 | c.2271G>C (p.Glu757Asp) c.*1828G>C (n.*1828G>C) | gnomAD v4 |
7 | g.107767579C>T | CA457205728 | SLC26A3 | c.2271G>A (p.Glu757=) c.*1828G>A (n.*1828G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767580T>A | CA368849341 | SLC26A3 | c.2270A>T (p.Glu757Val) c.*1827A>T (n.*1827A>T) | |
7 | g.107767580T>C | CA368849342 | SLC26A3 | c.2270A>G (p.Glu757Gly) c.*1827A>G (n.*1827A>G) | |
7 | g.107767580T>G | CA368849343 | SLC26A3 | c.2270A>C (p.Glu757Ala) c.*1827A>C (n.*1827A>C) | |
7 | g.107767581C>A | CA368849344 | SLC26A3 | c.2269G>T (p.Glu757Ter) c.*1826G>T (n.*1826G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.107767581C= | CA1732789972 | SLC26A3 | c.2269G= (p.Glu757=) c.*1826G= (n.*1826G=) | |
7 | g.107767581C>G | CA368849345 | SLC26A3 | c.2269G>C (p.Glu757Gln) c.*1826G>C (n.*1826G>C) | |
7 | g.107767581C>T | CA368849346 | SLC26A3 | c.2269G>A (p.Glu757Lys) c.*1826G>A (n.*1826G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767582A= | CA1732789976 | SLC26A3 | c.2268T= (p.Tyr756=) c.*1825T= (n.*1825T=) | |
7 | g.107767582A>C | CA368849347 | SLC26A3 | c.2268T>G (p.Tyr756Ter) c.*1825T>G (n.*1825T>G) | |
7 | g.107767582A>G | CA457205731 | SLC26A3 | c.2268T>C (p.Tyr756=) c.*1825T>C (n.*1825T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767582A>T | CA368849348 | SLC26A3 | c.2268T>A (p.Tyr756Ter) c.*1825T>A (n.*1825T>A) | |
7 | g.107767583T>A | CA368849349 | SLC26A3 | c.2267A>T (p.Tyr756Phe) c.*1824A>T (n.*1824A>T) | |
7 | g.107767583T>C | CA368849350 | SLC26A3 | c.2267A>G (p.Tyr756Cys) c.*1824A>G (n.*1824A>G) | gnomAD v4 |
7 | g.107767583T>G | CA368849351 | SLC26A3 | c.2267A>C (p.Tyr756Ser) c.*1824A>C (n.*1824A>C) | |
7 | g.107767584A>C | CA368849352 | SLC26A3 | c.2266T>G (p.Tyr756Asp) c.*1823T>G (n.*1823T>G) | |
7 | g.107767584A>G | CA368849353 | SLC26A3 | c.2266T>C (p.Tyr756His) c.*1823T>C (n.*1823T>C) | |
7 | g.107767584A>T | CA368849354 | SLC26A3 | c.2266T>A (p.Tyr756Asn) c.*1823T>A (n.*1823T>A) | gnomAD v4 |
7 | g.107767585T>A | CA457205737 | SLC26A3 | c.2265A>T (p.Val755=) c.*1822A>T (n.*1822A>T) | |
7 | g.107767585T>C | CA457205740 | SLC26A3 | c.2265A>G (p.Val755=) c.*1822A>G (n.*1822A>G) | dbSNP gnomAD v4 |
7 | g.107767585T>G | CA457205742 | SLC26A3 | c.2265A>C (p.Val755=) c.*1822A>C (n.*1822A>C) | |
7 | g.107767585T= | CA1732789980 | SLC26A3 | c.2265A= (p.Val755=) c.*1822A= (n.*1822A=) | |
7 | g.107767586A= | CA1732789982 | SLC26A3 | c.2264T= (p.Val755=) c.*1821T= (n.*1821T=) | |
7 | g.107767586A>C | CA368849355 | SLC26A3 | c.2264T>G (p.Val755Gly) c.*1821T>G (n.*1821T>G) | |
7 | g.107767586A>G | CA368849356 | SLC26A3 | c.2264T>C (p.Val755Ala) c.*1821T>C (n.*1821T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107767586A>T | CA368849357 | SLC26A3 | c.2264T>A (p.Val755Glu) c.*1821T>A (n.*1821T>A) | |
7 | g.107767587C>A | CA368849358 | SLC26A3 | c.2263G>T (p.Val755Leu) c.*1820G>T (n.*1820G>T) | |
7 | g.107767587C>G | CA368849359 | SLC26A3 | c.2263G>C (p.Val755Leu) c.*1820G>C (n.*1820G>C) | |
7 | g.107767587C>T | CA368849360 | SLC26A3 | c.2263G>A (p.Val755Ile) c.*1820G>A (n.*1820G>A) | gnomAD v4 |
7 | g.107767588C>A | CA457205748 | SLC26A3 | c.2262G>T (p.Arg754=) c.*1819G>T (n.*1819G>T) | |
7 | g.107767588C>G | CA457205747 | SLC26A3 | c.2262G>C (p.Arg754=) c.*1819G>C (n.*1819G>C) | |
7 | g.107767588C>T | CA457205746 | SLC26A3 | c.2262G>A (p.Arg754=) c.*1819G>A (n.*1819G>A) | gnomAD v4 |
7 | g.107767589C>A | CA368849362 | SLC26A3 | c.2261G>T (p.Arg754Leu) c.*1818G>T (n.*1818G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107767589C= | CA1732789984 | SLC26A3 | c.2261G= (p.Arg754=) c.*1818G= (n.*1818G=) | |
7 | g.107767589C>G | CA368849361 | SLC26A3 | c.2261G>C (p.Arg754Pro) c.*1818G>C (n.*1818G>C) | |
7 | g.107767589C>T | CA4433528 | SLC26A3 | c.2261G>A (p.Arg754Gln) c.*1818G>A (n.*1818G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107767590G>A | CA4433529 | SLC26A3 | c.2260C>T (p.Arg754Trp) c.*1817C>T (n.*1817C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107767590G>C | CA368849363 | SLC26A3 | c.2260C>G (p.Arg754Gly) c.*1817C>G (n.*1817C>G) | |
7 | g.107767590G= | CA1732789988 | SLC26A3 | c.2260C= (p.Arg754=) c.*1817C= (n.*1817C=) |