Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
7 | g.107767590G>T | CA457205752 | SLC26A3 | c.2260C>A (p.Arg754=) c.*1817C>A (n.*1817C>A) | gnomAD v4 |
7 | g.107767591A>C | CA368849365 | SLC26A3 | c.2259T>G (p.Asn753Lys) c.*1816T>G (n.*1816T>G) | |
7 | g.107767591A>G | CA457205754 | SLC26A3 | c.2259T>C (p.Asn753=) c.*1816T>C (n.*1816T>C) | |
7 | g.107767591A>T | CA368849364 | SLC26A3 | c.2259T>A (p.Asn753Lys) c.*1816T>A (n.*1816T>A) | |
7 | g.107767592T>A | CA368849366 | SLC26A3 | c.2258A>T (p.Asn753Ile) c.*1815A>T (n.*1815A>T) | |
7 | g.107767592T>C | CA4433530 | SLC26A3 | c.2258A>G (p.Asn753Ser) c.*1815A>G (n.*1815A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107767592T>G | CA368849367 | SLC26A3 | c.2258A>C (p.Asn753Thr) c.*1815A>C (n.*1815A>C) | |
7 | g.107767592T= | CA1732789991 | SLC26A3 | c.2258A= (p.Asn753=) c.*1815A= (n.*1815A=) | |
7 | g.107767593del | CA2578989470 | SLC26A3 | c.2258del (p.Asn753IlefsTer27) c.*1815del (n.*1815del) | |
7 | g.107767593T>A | CA368849368 | SLC26A3 | c.2257A>T (p.Asn753Tyr) c.*1814A>T (n.*1814A>T) | |
7 | g.107767593T>C | CA368849369 | SLC26A3 | c.2257A>G (p.Asn753Asp) c.*1814A>G (n.*1814A>G) | |
7 | g.107767593T>G | CA368849370 | SLC26A3 | c.2257A>C (p.Asn753His) c.*1814A>C (n.*1814A>C) | |
7 | g.107767594A= | CA1732789993 | SLC26A3 | c.2256T= (p.Arg752=) c.*1813T= (n.*1813T=) | |
7 | g.107767594A>C | CA457205757 | SLC26A3 | c.2256T>G (p.Arg752=) c.*1813T>G (n.*1813T>G) | |
7 | g.107767594A>G | CA457205759 | SLC26A3 | c.2256T>C (p.Arg752=) c.*1813T>C (n.*1813T>C) | dbSNP |
7 | g.107767594A>T | CA457205758 | SLC26A3 | c.2256T>A (p.Arg752=) c.*1813T>A (n.*1813T>A) | |
7 | g.107767595C>A | CA368849372 | SLC26A3 | c.2255G>T (p.Arg752Leu) c.*1812G>T (n.*1812G>T) | |
7 | g.107767595C= | CA1732789995 | SLC26A3 | c.2255G= (p.Arg752=) c.*1812G= (n.*1812G=) | |
7 | g.107767595C>G | CA368849371 | SLC26A3 | c.2255G>C (p.Arg752Pro) c.*1812G>C (n.*1812G>C) | |
7 | g.107767595C>T | CA4433531 | SLC26A3 | c.2255G>A (p.Arg752His) c.*1812G>A (n.*1812G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107767596G>A | CA4433532 | SLC26A3 | c.2254C>T (p.Arg752Cys) c.*1811C>T (n.*1811C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107767596G>C | CA4433533 | SLC26A3 | c.2254C>G (p.Arg752Gly) c.*1811C>G (n.*1811C>G) | dbSNP ExAC gnomAD v4 |
7 | g.107767596G= | CA1732789997 | SLC26A3 | c.2254C= (p.Arg752=) c.*1811C= (n.*1811C=) | |
7 | g.107767596G>T | CA164223229 | SLC26A3 | c.2254C>A (p.Arg752Ser) c.*1811C>A (n.*1811C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107767597T>A | CA368849373 | SLC26A3 | c.2253A>T (p.Leu751Phe) c.*1810A>T (n.*1810A>T) | |
7 | g.107767597T>C | CA457205761 | SLC26A3 | c.2253A>G (p.Leu751=) c.*1810A>G (n.*1810A>G) | |
7 | g.107767597T>G | CA368849374 | SLC26A3 | c.2253A>C (p.Leu751Phe) c.*1810A>C (n.*1810A>C) | |
7 | g.107767598A>C | CA368849375 | SLC26A3 | c.2252T>G (p.Leu751Ter) c.*1809T>G (n.*1809T>G) | |
7 | g.107767598A>G | CA368849377 | SLC26A3 | c.2252T>C (p.Leu751Ser) c.*1809T>C (n.*1809T>C) | |
7 | g.107767598A>T | CA368849376 | SLC26A3 | c.2252T>A (p.Leu751Ter) c.*1809T>A (n.*1809T>A) | |
7 | g.107767599A>C | CA368849378 | SLC26A3 | c.2251T>G (p.Leu751Val) c.*1808T>G (n.*1808T>G) | |
7 | g.107767599A>G | CA457205766 | SLC26A3 | c.2251T>C (p.Leu751=) c.*1808T>C (n.*1808T>C) | gnomAD v4 |
7 | g.107767599A>T | CA368849379 | SLC26A3 | c.2251T>A (p.Leu751Ile) c.*1808T>A (n.*1808T>A) | |
7 | g.107767600T>A | CA457205767 | SLC26A3 | c.2250A>T (p.Gly750=) c.*1807A>T (n.*1807A>T) | |
7 | g.107767600T>C | CA457205769 | SLC26A3 | c.2250A>G (p.Gly750=) c.*1807A>G (n.*1807A>G) | gnomAD v4 |
7 | g.107767600T>G | CA457205768 | SLC26A3 | c.2250A>C (p.Gly750=) c.*1807A>C (n.*1807A>C) | |
7 | g.107767601C>A | CA4433534 | SLC26A3 | c.2249G>T (p.Gly750Val) c.*1806G>T (n.*1806G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |