Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107674171_107674172insTTTTTTTTTT | CA1105627658 | SLC26A4 | c.423_424insTTTTTTTTTT (p.Pro142PhefsTer?) | gnomAD v3 gnomAD v4 |
7 | g.107674171del | CA2684461152 | SLC26A4 | c.423del (p.Pro142GlnfsTer3) | gnomAD v4 |
7 | g.107674169T>A | CA368847795 | SLC26A4 | c.421T>A (p.Phe141Ile) | |
7 | g.107674169T>C | CA368847797 | SLC26A4 | c.421T>C (p.Phe141Leu) | ClinVar dbSNP |
7 | g.107674169T>G | CA368847799 | SLC26A4 | c.421T>G (p.Phe141Val) | |
7 | g.107674170T>A | CA368847801 | SLC26A4 | c.422T>A (p.Phe141Tyr) | |
7 | g.107674170T>C | CA368847802 | SLC26A4 | c.422T>C (p.Phe141Ser) | ClinVar |
7 | g.107674170T>G | CA368847804 | SLC26A4 | c.422T>G (p.Phe141Cys) | |
7 | g.107674171T>A | CA368847806 | SLC26A4 | c.423T>A (p.Phe141Leu) | |
7 | g.107674171T>C | CA457105321 | SLC26A4 | c.423T>C (p.Phe141=) | |
7 | g.107674171T>G | CA368847807 | SLC26A4 | c.423T>G (p.Phe141Leu) | |
7 | g.107674172C>A | CA368847810 | SLC26A4 | c.424C>A (p.Pro142Thr) | |
7 | g.107674172C= | CA1732745876 | SLC26A4 | c.424C= (p.Pro142=) | |
7 | g.107674172C>G | CA368847811 | SLC26A4 | c.424C>G (p.Pro142Ala) | |
7 | g.107674172C>T | CA4432475 | SLC26A4 | c.424C>T (p.Pro142Ser) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
7 | g.107674173C>A | CA368847813 | SLC26A4 | c.425C>A (p.Pro142Gln) | |
7 | g.107674173C= | CA1732745878 | SLC26A4 | c.425C= (p.Pro142=) | |
7 | g.107674173C>G | CA368847815 | SLC26A4 | c.425C>G (p.Pro142Arg) | |
7 | g.107674173C>T | CA368847817 | SLC26A4 | c.425C>T (p.Pro142Leu) | dbSNP |
7 | g.107674174A= | CA1732745881 | SLC26A4 | c.426A= (p.Pro142=) | |
7 | g.107674174A>C | CA457105323 | SLC26A4 | c.426A>C (p.Pro142=) | |
7 | g.107674174A>G | CA457105324 | SLC26A4 | c.426A>G (p.Pro142=) | |
7 | g.107674174A>T | CA4432476 | SLC26A4 | c.426A>T (p.Pro142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674175G>A | CA368847820 | SLC26A4 | c.427G>A (p.Val143Met) | ClinVar dbSNP gnomAD v4 |
7 | g.107674175G>C | CA4432477 | SLC26A4 | c.427G>C (p.Val143Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674175G= | CA1732745886 | SLC26A4 | c.427G= (p.Val143=) | |
7 | g.107674175G>T | CA368847822 | SLC26A4 | c.427G>T (p.Val143Leu) | |
7 | g.107674176T>A | CA368847825 | SLC26A4 | c.428T>A (p.Val143Glu) | |
7 | g.107674176T>C | CA4432478 | SLC26A4 | c.428T>C (p.Val143Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674176T>G | CA368847828 | SLC26A4 | c.428T>G (p.Val143Gly) | |
7 | g.107674176T= | CA1732745889 | SLC26A4 | c.428T= (p.Val143=) | |
7 | g.107674177G>A | CA457105328 | SLC26A4 | c.429G>A (p.Val143=) | |
7 | g.107674177G>C | CA457105329 | SLC26A4 | c.429G>C (p.Val143=) | |
7 | g.107674177G>T | CA457105330 | SLC26A4 | c.429G>T (p.Val143=) | |
7 | g.107674178G>A | CA368847831 | SLC26A4 | c.430G>A (p.Val144Met) | gnomAD v4 |
7 | g.107674178G>C | CA368847833 | SLC26A4 | c.430G>C (p.Val144Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674178G= | CA1732745892 | SLC26A4 | c.430G= (p.Val144=) | |
7 | g.107674178G>T | CA368847834 | SLC26A4 | c.430G>T (p.Val144Leu) | |
7 | g.107674179T>A | CA4432480 | SLC26A4 | c.431T>A (p.Val144Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674179T>C | CA4432479 | SLC26A4 | c.431T>C (p.Val144Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674179T>G | CA368847836 | SLC26A4 | c.431T>G (p.Val144Gly) | gnomAD v4 |
7 | g.107674179T= | CA1732745894 | SLC26A4 | c.431T= (p.Val144=) | |
7 | g.107674180G>A | CA457105332 | SLC26A4 | c.432G>A (p.Val144=) | |
7 | g.107674180G>C | CA457105333 | SLC26A4 | c.432G>C (p.Val144=) | |
7 | g.107674180G>T | CA457105334 | SLC26A4 | c.432G>T (p.Val144=) | COSMIC |
7 | g.107674181A>C | CA368847840 | SLC26A4 | c.433A>C (p.Ser145Arg) | |
7 | g.107674181A>G | CA368847842 | SLC26A4 | c.433A>G (p.Ser145Gly) | |
7 | g.107674181A>T | CA368847843 | SLC26A4 | c.433A>T (p.Ser145Cys) | |
7 | g.107674182G>A | CA368847846 | SLC26A4 | c.434G>A (p.Ser145Asn) | |
7 | g.107674182G>C | CA368847848 | SLC26A4 | c.434G>C (p.Ser145Thr) |