Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107717418_107717419insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT | CA2569806132 | SLC26A4 | c.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT (n.*1972_*1973insTGTTGGCACTTAGGAAAAAAATAAATAAAAAGAGTGAATGTAATAGTCTTGCAGAAAAT) | |
7 | g.107717393_107717421delinsGTGAATGTAATAGTCTTGCAGAAAATGAA | CA1732757123 | SLC26A4 | c.*1947_*1975delinsGTGAATGTAATAGTCTTGCAGAAAATGAA (n.*1947_*1975delinsGTGAATGTAATAGTCTTGCAGAAAATGAA) | |
7 | g.107717399_107717426del | CA577031014 | SLC26A4 | c.*1953_*1980del (n.*1953_*1980del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107717406T>A | CA10622935 | SLC26A4 | c.*1960T>A (n.*1960T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717406T= | CA1732757148 | SLC26A4 | c.*1960T= (n.*1960T=) | |
7 | g.107717407del | CA1105629914 | SLC26A4 | c.*1961del (n.*1961del) | gnomAD v3 gnomAD v4 |
7 | g.107717407C>A | CA2521287826 | SLC26A4 | c.*1961C>A (n.*1961C>A) | gnomAD v3 gnomAD v4 |
7 | g.107717407C>T | CA2684469895 | SLC26A4 | c.*1961C>T (n.*1961C>T) | gnomAD v4 |
7 | g.107717408T>C | CA2684469896 | SLC26A4 | c.*1962T>C (n.*1962T>C) | gnomAD v4 |
7 | g.107717410G>C | CA164233630 | SLC26A4 | c.*1964G>C (n.*1964G>C) | dbSNP |
7 | g.107717410G= | CA1732757150 | SLC26A4 | c.*1964G= (n.*1964G=) | |
7 | g.107717410_107717411delinsGC | CA1732757151 | SLC26A4 | c.*1964_*1965delinsGC (n.*1964_*1965delinsGC) | |
7 | g.107717411del | CA577031016 | SLC26A4 | c.*1965del (n.*1965del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107717411C>A | CA1105629919 | SLC26A4 | c.*1965C>A (n.*1965C>A) | gnomAD v3 gnomAD v4 |
7 | g.107717411C= | CA1732757154 | SLC26A4 | c.*1965C= (n.*1965C=) | |
7 | g.107717411C>T | CA831179147 | SLC26A4 | c.*1965C>T (n.*1965C>T) | dbSNP |
7 | g.107717413G>A | CA1105629927 | SLC26A4 | c.*1967G>A (n.*1967G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717413G= | CA1732757156 | SLC26A4 | c.*1967G= (n.*1967G=) | |
7 | g.107717415A= | CA1732757157 | SLC26A4 | c.*1969A= (n.*1969A=) | |
7 | g.107717419_107717426dup | CA1732757159 | SLC26A4 | c.*1973_*1980dup (n.*1973_*1980dup) | dbSNP |
7 | g.107717418T>A | CA831179148 | SLC26A4 | c.*1972T>A (n.*1972T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717418T= | CA1732757161 | SLC26A4 | c.*1972T= (n.*1972T=) | |
7 | g.107717419G>A | CA1105629929 | SLC26A4 | c.*1973G>A (n.*1973G>A) | gnomAD v3 gnomAD v4 |
7 | g.107717422T>A | CA1105629930 | SLC26A4 | c.*1976T>A (n.*1976T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717422T= | CA1732757162 | SLC26A4 | c.*1976T= (n.*1976T=) | |
7 | g.107717423G>T | CA2715578535 | SLC26A4 | c.*1977G>T (n.*1977G>T) | dbSNP |
7 | g.107717424A= | CA1732757163 | SLC26A4 | c.*1978A= (n.*1978A=) | |
7 | g.107717424A>G | CA1732757165 | SLC26A4 | c.*1978A>G (n.*1978A>G) | dbSNP |
7 | g.107717424A>T | CA1732757167 | SLC26A4 | c.*1978A>T (n.*1978A>T) | dbSNP |
7 | g.107717426T>A | CA1105629934 | SLC26A4 | c.*1980T>A (n.*1980T>A) | gnomAD v3 gnomAD v4 |
7 | g.107717428C>A | CA164233648 | SLC26A4 | c.*1982C>A (n.*1982C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107717428C= | CA1732757172 | SLC26A4 | c.*1982C= (n.*1982C=) | |
7 | g.107717433G= | CA1732757174 | SLC26A4 | c.*1987G= (n.*1987G=) | |
7 | g.107717433G>T | CA1732757175 | SLC26A4 | c.*1987G>T (n.*1987G>T) | dbSNP |
7 | g.107717436C>T | CA2715578537 | SLC26A4 | c.*1990C>T (n.*1990C>T) | dbSNP |
7 | g.107717439T>A | CA2715307676 | SLC26A4 | c.*1993T>A (n.*1993T>A) | dbSNP |
7 | g.107717439T>C | CA164233653 | SLC26A4 | c.*1993T>C (n.*1993T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717439T= | CA1732757177 | SLC26A4 | c.*1993T= (n.*1993T=) | |
7 | g.107717440A>T | CA2684469897 | SLC26A4 | c.*1994A>T (n.*1994A>T) | gnomAD v4 |
7 | g.107717444G= | CA1732757179 | SLC26A4 | c.*1998G= (n.*1998G=) | |
7 | g.107717444G>T | CA831179151 | SLC26A4 | c.*1998G>T (n.*1998G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717450T>C | CA1105629940 | SLC26A4 | c.*2004T>C (n.*2004T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717450T= | CA1732757180 | SLC26A4 | c.*2004T= (n.*2004T=) | |
7 | g.107717451G>A | CA1732757182 | SLC26A4 | c.*2005G>A (n.*2005G>A) | dbSNP |
7 | g.107717451G= | CA1732757181 | SLC26A4 | c.*2005G= (n.*2005G=) | |
7 | g.107717455T>C | CA2513482285 | SLC26A4 | c.*2009T>C (n.*2009T>C) | |
7 | g.107717456G>A | CA2684469898 | SLC26A4 | c.*2010G>A (n.*2010G>A) | gnomAD v4 |
7 | g.107717456G>T | CA2684469899 | SLC26A4 | c.*2010G>T (n.*2010G>T) | gnomAD v4 |
7 | g.107717458T>C | CA1105629946 | SLC26A4 | c.*2012T>C (n.*2012T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107717458T= | CA1732757184 | SLC26A4 | c.*2012T= (n.*2012T=) |