Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107710134G>A | CA164228112 | SLC26A4 | c.2170G>A (p.Asp724Asn) c.826G>A n.377-21G>A c.2092G>A (p.Asp698Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710134G>C | CA368845883 | SLC26A4 | c.2170G>C (p.Asp724His) c.826G>C n.377-21G>C c.2092G>C (p.Asp698His) | |
7 | g.107710134G= | CA1732751342 | SLC26A4 | c.2170G= (p.Asp724=) c.826G= n.377-21G= c.2092G= (p.Asp698=) | |
7 | g.107710134G>T | CA368845885 | SLC26A4 | c.2170G>T (p.Asp724Tyr) c.826G>T n.377-21G>T c.2092G>T (p.Asp698Tyr) | gnomAD v4 |
7 | g.107710135A= | CA1732751344 | SLC26A4 | c.2171A= (p.Asp724=) c.827A= n.377-20A= c.2093A= (p.Asp698=) | |
7 | g.107710135A>C | CA368845886 | SLC26A4 | c.2171A>C (p.Asp724Ala) c.827A>C n.377-20A>C c.2093A>C (p.Asp698Ala) | |
7 | g.107710135A>G | CA4433064 | SLC26A4 | c.2171A>G (p.Asp724Gly) c.827A>G n.377-20A>G c.2093A>G (p.Asp698Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710135A>T | CA368845889 | SLC26A4 | c.2171A>T (p.Asp724Val) c.827A>T n.377-20A>T c.2093A>T (p.Asp698Val) | ClinVar |
7 | g.107710136T>A | CA368845892 | SLC26A4 | c.2172T>A (p.Asp724Glu) c.828T>A n.377-19T>A c.2094T>A (p.Asp698Glu) | |
7 | g.107710136T>C | CA457104607 | SLC26A4 | c.2172T>C (p.Asp724=) c.828T>C n.377-19T>C c.2094T>C (p.Asp698=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710136T>G | CA368845893 | SLC26A4 | c.2172T>G (p.Asp724Glu) c.828T>G n.377-19T>G c.2094T>G (p.Asp698Glu) | |
7 | g.107710136T= | CA1732751346 | SLC26A4 | c.2172T= (p.Asp724=) c.828T= n.377-19T= c.2094T= (p.Asp698=) | |
7 | g.107710137G>A | CA368845896 | SLC26A4 | c.2173G>A (p.Ala725Thr) c.829G>A n.377-18G>A c.2095G>A (p.Ala699Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710137G>C | CA368845898 | SLC26A4 | c.2173G>C (p.Ala725Pro) c.829G>C n.377-18G>C c.2095G>C (p.Ala699Pro) | |
7 | g.107710137G= | CA1732751347 | SLC26A4 | c.2173G= (p.Ala725=) c.829G= n.377-18G= c.2095G= (p.Ala699=) | |
7 | g.107710137G>T | CA368845900 | SLC26A4 | c.2173G>T (p.Ala725Ser) c.829G>T n.377-18G>T c.2095G>T (p.Ala699Ser) | |
7 | g.107710138C>A | CA368845902 | SLC26A4 | c.2174C>A (p.Ala725Asp) c.830C>A n.377-17C>A c.2096C>A (p.Ala699Asp) | |
7 | g.107710138C= | CA1732751351 | SLC26A4 | c.2174C= (p.Ala725=) c.830C= n.377-17C= c.2096C= (p.Ala699=) | |
7 | g.107710138C>G | CA368845904 | SLC26A4 | c.2174C>G (p.Ala725Gly) c.830C>G n.377-17C>G c.2096C>G (p.Ala699Gly) | |
7 | g.107710138C>T | CA368845906 | SLC26A4 | c.2174C>T (p.Ala725Val) c.830C>T n.377-17C>T c.2096C>T (p.Ala699Val) | |
7 | g.107710138dup | CA913111824 | SLC26A4 | c.2174dup (p.Ile726TyrfsTer28) c.830dup n.377-17dup c.2096dup (p.Ile700TyrfsTer28) | |
7 | g.107710138_107710139del | CA2578989089 | SLC26A4 | c.2174_2175del (p.Ala725AspfsTer28) c.830_831del n.377-17_377-16del c.2096_2097del (p.Ala699AspfsTer28) | |
7 | g.107710138_107710141dup | CA577030685 | SLC26A4 | c.2174_2177dup (p.Leu727TyrfsTer28) c.830_833dup n.377-17_377-14dup c.2096_2099dup (p.Leu701TyrfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710141_107710151del | CA2499218645 | SLC26A4 | c.2177_2187del (p.Ile726ThrfsTer24) c.833_843del n.377-14_377-4del c.2099_2109del (p.Ile700ThrfsTer24) | ClinVar dbSNP |
7 | g.107710139T>A | CA457104608 | SLC26A4 | c.2175T>A (p.Ala725=) c.831T>A n.377-16T>A c.2097T>A (p.Ala699=) | |
7 | g.107710139T>C | CA457104609 | SLC26A4 | c.2175T>C (p.Ala725=) c.831T>C n.377-16T>C c.2097T>C (p.Ala699=) | ClinVar dbSNP |
7 | g.107710139T>G | CA457104610 | SLC26A4 | c.2175T>G (p.Ala725=) c.831T>G n.377-16T>G c.2097T>G (p.Ala699=) | |
7 | g.107710141_107710142dup | CA577030686 | SLC26A4 | c.2177_2178dup (p.Leu727TyrfsTer8) c.833_834dup n.377-14_377-13dup c.2099_2100dup (p.Leu701TyrfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710140A= | CA1732751353 | SLC26A4 | c.2176A= (p.Ile726=) c.832A= n.377-15A= c.2098A= (p.Ile700=) | |
7 | g.107710140A>C | CA368845912 | SLC26A4 | c.2176A>C (p.Ile726Leu) c.832A>C n.377-15A>C c.2098A>C (p.Ile700Leu) | |
7 | g.107710140A>G | CA4433065 | SLC26A4 | c.2176A>G (p.Ile726Val) c.832A>G n.377-15A>G c.2098A>G (p.Ile700Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.107710140A>T | CA368845909 | SLC26A4 | c.2176A>T (p.Ile726Leu) c.832A>T n.377-15A>T c.2098A>T (p.Ile700Leu) | |
7 | g.107710141T>A | CA368845913 | SLC26A4 | c.2177T>A (p.Ile726Lys) c.833T>A n.377-14T>A c.2099T>A (p.Ile700Lys) | |
7 | g.107710141T>C | CA368845915 | SLC26A4 | c.2177T>C (p.Ile726Thr) c.833T>C n.377-14T>C c.2099T>C (p.Ile700Thr) | |
7 | g.107710141T>G | CA368845918 | SLC26A4 | c.2177T>G (p.Ile726Arg) c.833T>G n.377-14T>G c.2099T>G (p.Ile700Arg) | |
7 | g.107710142del | CA2573141438 | SLC26A4 | c.2178del (p.Leu727SerfsTer7) c.834del n.377-13del c.2100del (p.Leu701SerfsTer7) | ClinVar dbSNP |
7 | g.107710142A>C | CA457104611 | SLC26A4 | c.2178A>C (p.Ile726=) c.834A>C n.377-13A>C c.2100A>C (p.Ile700=) | |
7 | g.107710142A>G | CA368845921 | SLC26A4 | c.2178A>G (p.Ile726Met) c.834A>G n.377-13A>G c.2100A>G (p.Ile700Met) | |
7 | g.107710142A>T | CA457104612 | SLC26A4 | c.2178A>T (p.Ile726=) c.834A>T n.377-13A>T c.2100A>T (p.Ile700=) | |
7 | g.107710143C>A | CA368845924 | SLC26A4 | c.2179C>A (p.Leu727Ile) c.835C>A n.377-12C>A c.2101C>A (p.Leu701Ile) | gnomAD v4 |
7 | g.107710143C= | CA1732751356 | SLC26A4 | c.2179C= (p.Leu727=) c.835C= n.377-12C= c.2101C= (p.Leu701=) | |
7 | g.107710143C>G | CA368845926 | SLC26A4 | c.2179C>G (p.Leu727Val) c.835C>G n.377-12C>G c.2101C>G (p.Leu701Val) | |
7 | g.107710143C>T | CA368845928 | SLC26A4 | c.2179C>T (p.Leu727Phe) c.835C>T n.377-12C>T c.2101C>T (p.Leu701Phe) | |
7 | g.107710144T>A | CA368845930 | SLC26A4 | c.2180T>A (p.Leu727His) c.836T>A n.377-11T>A c.2102T>A (p.Leu701His) | |
7 | g.107710144T>C | CA368845936 | SLC26A4 | c.2180T>C (p.Leu727Pro) c.836T>C n.377-11T>C c.2102T>C (p.Leu701Pro) | gnomAD v4 COSMIC |
7 | g.107710144T>G | CA368845935 | SLC26A4 | c.2180T>G (p.Leu727Arg) c.836T>G n.377-11T>G c.2102T>G (p.Leu701Arg) | |
7 | g.107710148_107710151dup | CA1732751357 | SLC26A4 | c.2184_2187dup (p.Gln730SerfsTer25) c.840_843dup n.377-7_377-4dup c.2106_2109dup (p.Gln704SerfsTer25) | ClinVar dbSNP |
7 | g.107710148_107710151del | CA2580617075 | SLC26A4 | c.2184_2187del (p.Leu729ArgfsTer4) c.840_843del n.377-7_377-4del c.2106_2109del (p.Leu703ArgfsTer4) | ClinVar |
7 | g.107710145C>A | CA457104613 | SLC26A4 | c.2181C>A (p.Leu727=) c.837C>A n.377-10C>A c.2103C>A (p.Leu701=) | |
7 | g.107710145C= | CA1732751358 | SLC26A4 | c.2181C= (p.Leu727=) c.837C= n.377-10C= c.2103C= (p.Leu701=) | |
7 | g.107710145C>G | CA457104615 | SLC26A4 | c.2181C>G (p.Leu727=) c.837C>G n.377-10C>G c.2103C>G (p.Leu701=) | |
7 | g.107710145C>T | CA457104614 | SLC26A4 | c.2181C>T (p.Leu727=) c.837C>T n.377-10C>T c.2103C>T (p.Leu701=) | |
7 | g.107710145_107710146insG | CA4433066 | SLC26A4 | c.2181_2182insG (p.Tyr728ValfsTer26) c.837_838insG n.377-10_377-9insG c.2103_2104insG (p.Tyr702ValfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710146T>A | CA368845939 | SLC26A4 | c.2182T>A (p.Tyr728Asn) c.838T>A n.377-9T>A c.2104T>A (p.Tyr702Asn) | |
7 | g.107710146T>C | CA368845941 | SLC26A4 | c.2182T>C (p.Tyr728His) c.838T>C n.377-9T>C c.2104T>C (p.Tyr702His) | dbSNP |
7 | g.107710146T>G | CA368845943 | SLC26A4 | c.2182T>G (p.Tyr728Asp) c.838T>G n.377-9T>G c.2104T>G (p.Tyr702Asp) | |
7 | g.107710146T= | CA1732751359 | SLC26A4 | c.2182T= (p.Tyr728=) c.838T= n.377-9T= c.2104T= (p.Tyr702=) | |
7 | g.107710146dup | CA831174516 | SLC26A4 | c.2182dup (p.Tyr728LeufsTer26) c.838dup n.377-9dup c.2104dup (p.Tyr702LeufsTer26) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710146_107710147insG | CA913184816 | SLC26A4 | c.2182_2183insG (p.Tyr728Ter) c.838_839insG n.377-9_377-8insG c.2104_2105insG (p.Tyr702Ter) | ClinVar dbSNP |
7 | g.107710147A= | CA1732751361 | SLC26A4 | c.2183A= (p.Tyr728=) c.839A= n.377-8A= c.2105A= (p.Tyr702=) | |
7 | g.107710147A>C | CA368845945 | SLC26A4 | c.2183A>C (p.Tyr728Ser) c.839A>C n.377-8A>C c.2105A>C (p.Tyr702Ser) | |
7 | g.107710147A>G | CA4433067 | SLC26A4 | c.2183A>G (p.Tyr728Cys) c.839A>G n.377-8A>G c.2105A>G (p.Tyr702Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710147A>T | CA368845948 | SLC26A4 | c.2183A>T (p.Tyr728Phe) c.839A>T n.377-8A>T c.2105A>T (p.Tyr702Phe) | |
7 | g.107710148T>A | CA368845955 | SLC26A4 | c.2184T>A (p.Tyr728Ter) c.840T>A n.377-7T>A c.2106T>A (p.Tyr702Ter) | |
7 | g.107710148T>C | CA457104616 | SLC26A4 | c.2184T>C (p.Tyr728=) c.840T>C n.377-7T>C c.2106T>C (p.Tyr702=) | ClinVar dbSNP |
7 | g.107710148T>G | CA368845956 | SLC26A4 | c.2184T>G (p.Tyr728Ter) c.840T>G n.377-7T>G c.2106T>G (p.Tyr702Ter) | |
7 | g.107710149C>A | CA368845958 | SLC26A4 | c.2185C>A (p.Leu729Ile) c.841C>A n.377-6C>A c.2107C>A (p.Leu703Ile) | |
7 | g.107710149C= | CA1732751363 | SLC26A4 | c.2185C= (p.Leu729=) c.841C= n.377-6C= c.2107C= (p.Leu703=) | |
7 | g.107710149C>G | CA368845961 | SLC26A4 | c.2185C>G (p.Leu729Val) c.841C>G n.377-6C>G c.2107C>G (p.Leu703Val) | |
7 | g.107710149C>T | CA4433068 | SLC26A4 | c.2185C>T (p.Leu729=) c.841C>T n.377-6C>T c.2107C>T (p.Leu703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710150T>A | CA368845964 | SLC26A4 | c.2186T>A (p.Leu729Gln) c.842T>A n.377-5T>A c.2108T>A (p.Leu703Gln) | |
7 | g.107710150T>C | CA164228145 | SLC26A4 | c.2186T>C (p.Leu729Pro) c.842T>C n.377-5T>C c.2108T>C (p.Leu703Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.107710150T>G | CA368845966 | SLC26A4 | c.2186T>G (p.Leu729Arg) c.842T>G n.377-5T>G c.2108T>G (p.Leu703Arg) | |
7 | g.107710150T= | CA1732751365 | SLC26A4 | c.2186T= (p.Leu729=) c.842T= n.377-5T= c.2108T= (p.Leu703=) | |
7 | g.107710151A>C | CA457104617 | SLC26A4 | c.2187A>C (p.Leu729=) c.843A>C n.377-4A>C c.2109A>C (p.Leu703=) | |
7 | g.107710151A>G | CA457104618 | SLC26A4 | c.2187A>G (p.Leu729=) c.843A>G n.377-4A>G c.2109A>G (p.Leu703=) | |
7 | g.107710151A>T | CA457104619 | SLC26A4 | c.2187A>T (p.Leu729=) c.843A>T n.377-4A>T c.2109A>T (p.Leu703=) | |
7 | g.107710152C>A | CA368845969 | SLC26A4 | c.2188C>A (p.Gln730Lys) c.844C>A n.377-3C>A c.2110C>A (p.Gln704Lys) | |
7 | g.107710152C= | CA1732751366 | SLC26A4 | c.2188C= (p.Gln730=) c.844C= n.377-3C= c.2110C= (p.Gln704=) | |
7 | g.107710152C>G | CA368845971 | SLC26A4 | c.2188C>G (p.Gln730Glu) c.844C>G n.377-3C>G c.2110C>G (p.Gln704Glu) | gnomAD v4 |
7 | g.107710152C>T | CA261427 | SLC26A4 | c.2188C>T (p.Gln730Ter) c.844C>T n.377-3C>T c.2110C>T (p.Gln704Ter) | ClinVar dbSNP |
7 | g.107710153A>C | CA368845974 | SLC26A4 | c.2189A>C (p.Gln730Pro) c.845A>C n.377-2A>C c.2111A>C (p.Gln704Pro) | |
7 | g.107710153A>G | CA368845976 | SLC26A4 | c.2189A>G (p.Gln730Arg) c.845A>G n.377-2A>G c.2111A>G (p.Gln704Arg) | |
7 | g.107710153A>T | CA368845979 | SLC26A4 | c.2189A>T (p.Gln730Leu) c.845A>T n.377-2A>T c.2111A>T (p.Gln704Leu) | |
7 | g.107710154G>A | CA457104622 | SLC26A4 | c.2190G>A (p.Gln730=) c.846G>A n.377-1G>A c.2112G>A (p.Gln704=) | |
7 | g.107710154G>C | CA368845981 | SLC26A4 | c.2190G>C (p.Gln730His) c.846G>C n.377-1G>C c.2112G>C (p.Gln704His) | |
7 | g.107710154G= | CA1732751368 | SLC26A4 | c.2190G= (p.Gln730=) c.846G= n.377-1G= c.2112G= (p.Gln704=) | |
7 | g.107710154G>T | CA132707 | SLC26A4 | c.2190G>T (p.Gln730His) c.846G>T n.377-1G>T c.2112G>T (p.Gln704His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710155A= | CA1732751371 | SLC26A4 | c.2191A= (p.Asn731=) c.847A= n.377A= c.2113A= (p.Asn705=) | |
7 | g.107710155A>C | CA368845984 | SLC26A4 | c.2191A>C (p.Asn731His) c.847A>C n.377A>C c.2113A>C (p.Asn705His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710155A>G | CA368845986 | SLC26A4 | c.2191A>G (p.Asn731Asp) c.847A>G n.377A>G c.2113A>G (p.Asn705Asp) | |
7 | g.107710155A>T | CA368845987 | SLC26A4 | c.2191A>T (p.Asn731Tyr) c.847A>T n.377A>T c.2113A>T (p.Asn705Tyr) | |
7 | g.107710156A= | CA1732751373 | SLC26A4 | c.2192A= (p.Asn731=) c.848A= n.378A= c.2114A= (p.Asn705=) | |
7 | g.107710156A>C | CA368845989 | SLC26A4 | c.2192A>C (p.Asn731Thr) c.848A>C n.378A>C c.2114A>C (p.Asn705Thr) | |
7 | g.107710156A>G | CA4433069 | SLC26A4 | c.2192A>G (p.Asn731Ser) c.848A>G n.378A>G c.2114A>G (p.Asn705Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710156A>T | CA368845992 | SLC26A4 | c.2192A>T (p.Asn731Ile) c.848A>T n.378A>T c.2114A>T (p.Asn705Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710157C>A | CA4433070 | SLC26A4 | c.2193C>A (p.Asn731Lys) c.849C>A n.379C>A c.2115C>A (p.Asn705Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710157C= | CA1732751375 | SLC26A4 | c.2193C= (p.Asn731=) c.849C= n.379C= c.2115C= (p.Asn705=) | |
7 | g.107710157C>G | CA368845993 | SLC26A4 | c.2193C>G (p.Asn731Lys) c.849C>G n.379C>G c.2115C>G (p.Asn705Lys) | dbSNP |
7 | g.107710157C>T | CA457104623 | SLC26A4 | c.2193C>T (p.Asn731=) c.849C>T n.379C>T c.2115C>T (p.Asn705=) | gnomAD v4 |
7 | g.107710157_107710158insA | CA2573141439 | SLC26A4 | c.2193_2194insA (p.Gln732ThrfsTer22) c.849_850insA n.379_380insA c.2115_2116insA (p.Gln706ThrfsTer22) | dbSNP gnomAD v4 |
7 | g.107710158C>A | CA368845995 | SLC26A4 | c.2194C>A (p.Gln732Lys) c.850C>A n.380C>A c.2116C>A (p.Gln706Lys) | ClinVar |
7 | g.107710158C>G | CA368845997 | SLC26A4 | c.2194C>G (p.Gln732Glu) c.850C>G n.380C>G c.2116C>G (p.Gln706Glu) | |
7 | g.107710158C>T | CA368845999 | SLC26A4 | c.2194C>T (p.Gln732Ter) c.850C>T n.380C>T c.2116C>T (p.Gln706Ter) | |
7 | g.107710159A>C | CA368846000 | SLC26A4 | c.2195A>C (p.Gln732Pro) c.851A>C n.381A>C c.2117A>C (p.Gln706Pro) | |
7 | g.107710159A>G | CA368846002 | SLC26A4 | c.2195A>G (p.Gln732Arg) c.851A>G n.381A>G c.2117A>G (p.Gln706Arg) | |
7 | g.107710159A>T | CA368846004 | SLC26A4 | c.2195A>T (p.Gln732Leu) c.851A>T n.381A>T c.2117A>T (p.Gln706Leu) | |
7 | g.107710160A>C | CA368846006 | SLC26A4 | c.2196A>C (p.Gln732His) c.852A>C n.382A>C c.2118A>C (p.Gln706His) | |
7 | g.107710160A>G | CA457104624 | SLC26A4 | c.2196A>G (p.Gln732=) c.852A>G n.382A>G c.2118A>G (p.Gln706=) | dbSNP gnomAD v4 |
7 | g.107710160A>T | CA368846008 | SLC26A4 | c.2196A>T (p.Gln732His) c.852A>T n.382A>T c.2118A>T (p.Gln706His) | |
7 | g.107710161G>A | CA368846010 | SLC26A4 | c.2197G>A (p.Val733Met) c.853G>A n.383G>A c.2119G>A (p.Val707Met) | |
7 | g.107710161G>C | CA368846012 | SLC26A4 | c.2197G>C (p.Val733Leu) c.853G>C n.383G>C c.2119G>C (p.Val707Leu) | |
7 | g.107710161G>T | CA368846014 | SLC26A4 | c.2197G>T (p.Val733Leu) c.853G>T n.383G>T c.2119G>T (p.Val707Leu) | |
7 | g.107710162T>A | CA368846017 | SLC26A4 | c.2198T>A (p.Val733Glu) c.854T>A n.384T>A c.2120T>A (p.Val707Glu) | |
7 | g.107710162T>C | CA4433071 | SLC26A4 | c.2198T>C (p.Val733Ala) c.854T>C n.384T>C c.2120T>C (p.Val707Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710162T>G | CA368846018 | SLC26A4 | c.2198T>G (p.Val733Gly) c.854T>G n.384T>G c.2120T>G (p.Val707Gly) | |
7 | g.107710162T= | CA1732751376 | SLC26A4 | c.2198T= (p.Val733=) c.854T= n.384T= c.2120T= (p.Val707=) | |
7 | g.107710162_107710163insCT | CA2684468714 | SLC26A4 | c.2198_2199insCT (p.Lys734Ter) c.854_855insCT n.384_385insCT c.2120_2121insCT (p.Lys708Ter) | gnomAD v4 |
7 | g.107710162_107710174delinsTGAAATCTCAAGA | CA1732751377 | SLC26A4 | c.2198_2210delinsTGAAATCTCAAGA (p.Val733=) c.854_866delinsTGAAATCTCAAGA n.384_396delinsTGAAATCTCAAGA c.2120_2132delinsTGAAATCTCAAGA (p.Val707=) | |
7 | g.107710163G>A | CA4433072 | SLC26A4 | c.2199G>A (p.Val733=) c.855G>A n.385G>A c.2121G>A (p.Val707=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710163G>C | CA457104631 | SLC26A4 | c.2199G>C (p.Val733=) c.855G>C n.385G>C c.2121G>C (p.Val707=) | ClinVar dbSNP gnomAD v4 |
7 | g.107710163G= | CA1732751380 | SLC26A4 | c.2199G= (p.Val733=) c.855G= n.385G= c.2121G= (p.Val707=) | |
7 | g.107710163G>T | CA457104632 | SLC26A4 | c.2199G>T (p.Val733=) c.855G>T n.385G>T c.2121G>T (p.Val707=) | |
7 | g.107710164_107710175del | CA1732751379 | SLC26A4 | c.2200_2211del (p.Lys734_Glu737del) c.856_867del n.386_397del c.2122_2133del (p.Lys708_Glu711del) | dbSNP |
7 | g.107710163_107710164insGGGTCA | CA2684468715 | SLC26A4 | c.2199_2200insGGGTCA (p.Val733_Lys734insGlySer) c.855_856insGGGTCA n.385_386insGGGTCA c.2121_2122insGGGTCA (p.Val707_Lys708insGlySer) | gnomAD v4 |
7 | g.107710164A= | CA1732751381 | SLC26A4 | c.2200A= (p.Lys734=) c.856A= n.386A= c.2122A= (p.Lys708=) | |
7 | g.107710164A>C | CA368846025 | SLC26A4 | c.2200A>C (p.Lys734Gln) c.856A>C n.386A>C c.2122A>C (p.Lys708Gln) | |
7 | g.107710164A>G | CA4433073 | SLC26A4 | c.2200A>G (p.Lys734Glu) c.856A>G n.386A>G c.2122A>G (p.Lys708Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710164A>T | CA368846024 | SLC26A4 | c.2200A>T (p.Lys734Ter) c.856A>T n.386A>T c.2122A>T (p.Lys708Ter) | |
7 | g.107710165A= | CA1732751383 | SLC26A4 | c.2201A= (p.Lys734=) c.857A= n.387A= c.2123A= (p.Lys708=) | |
7 | g.107710165A>C | CA368846027 | SLC26A4 | c.2201A>C (p.Lys734Thr) c.857A>C n.387A>C c.2123A>C (p.Lys708Thr) | |
7 | g.107710165A>G | CA368846029 | SLC26A4 | c.2201A>G (p.Lys734Arg) c.857A>G n.387A>G c.2123A>G (p.Lys708Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710165A>T | CA368846031 | SLC26A4 | c.2201A>T (p.Lys734Ile) c.857A>T n.387A>T c.2123A>T (p.Lys708Ile) | |
7 | g.107710166A>C | CA368846033 | SLC26A4 | c.2202A>C (p.Lys734Asn) c.858A>C n.388A>C c.2124A>C (p.Lys708Asn) | |
7 | g.107710166A>G | CA457104644 | SLC26A4 | c.2202A>G (p.Lys734=) c.858A>G n.388A>G c.2124A>G (p.Lys708=) | ClinVar dbSNP |
7 | g.107710166A>T | CA368846035 | SLC26A4 | c.2202A>T (p.Lys734Asn) c.858A>T n.388A>T c.2124A>T (p.Lys708Asn) | |
7 | g.107710167T>A | CA368846038 | SLC26A4 | c.2203T>A (p.Ser735Thr) c.859T>A n.389T>A c.2125T>A (p.Ser709Thr) | |
7 | g.107710167T>C | CA368846040 | SLC26A4 | c.2203T>C (p.Ser735Pro) c.859T>C n.389T>C c.2125T>C (p.Ser709Pro) | |
7 | g.107710167T>G | CA368846042 | SLC26A4 | c.2203T>G (p.Ser735Ala) c.859T>G n.389T>G c.2125T>G (p.Ser709Ala) | |
7 | g.107710167_107710168insGA | CA2684468716 | SLC26A4 | c.2203_2204insGA (p.Ser735Ter) c.859_860insGA n.389_390insGA c.2125_2126insGA (p.Ser709Ter) | gnomAD v4 |
7 | g.107710168C>A | CA368846044 | SLC26A4 | c.2204C>A (p.Ser735Tyr) c.860C>A n.390C>A c.2126C>A (p.Ser709Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710168C= | CA1732751384 | SLC26A4 | c.2204C= (p.Ser735=) c.860C= n.390C= c.2126C= (p.Ser709=) | |
7 | g.107710168C>G | CA368846045 | SLC26A4 | c.2204C>G (p.Ser735Cys) c.860C>G n.390C>G c.2126C>G (p.Ser709Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710168C>T | CA368846046 | SLC26A4 | c.2204C>T (p.Ser735Phe) c.860C>T n.390C>T c.2126C>T (p.Ser709Phe) | |
7 | g.107710169T>A | CA457104656 | SLC26A4 | c.2205T>A (p.Ser735=) c.861T>A n.391T>A c.2127T>A (p.Ser709=) | |
7 | g.107710169T>C | CA457104658 | SLC26A4 | c.2205T>C (p.Ser735=) c.861T>C n.391T>C c.2127T>C (p.Ser709=) | |
7 | g.107710169T>G | CA457104654 | SLC26A4 | c.2205T>G (p.Ser735=) c.861T>G n.391T>G c.2127T>G (p.Ser709=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710169T= | CA1732751385 | SLC26A4 | c.2205T= (p.Ser735=) c.861T= n.391T= c.2127T= (p.Ser709=) | |
7 | g.107710170C>A | CA368846048 | SLC26A4 | c.2206C>A (p.Gln736Lys) c.862C>A n.392C>A c.2128C>A (p.Gln710Lys) | gnomAD v4 |
7 | g.107710170C= | CA1732751386 | SLC26A4 | c.2206C= (p.Gln736=) c.862C= n.392C= c.2128C= (p.Gln710=) | |
7 | g.107710170C>G | CA368846052 | SLC26A4 | c.2206C>G (p.Gln736Glu) c.862C>G n.392C>G c.2128C>G (p.Gln710Glu) | dbSNP gnomAD v4 |
7 | g.107710170C>T | CA16605106 | SLC26A4 | c.2206C>T (p.Gln736Ter) c.862C>T n.392C>T c.2128C>T (p.Gln710Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710171A= | CA1732751387 | SLC26A4 | c.2207A= (p.Gln736=) c.863A= n.393A= c.2129A= (p.Gln710=) | |
7 | g.107710171A>C | CA368846054 | SLC26A4 | c.2207A>C (p.Gln736Pro) c.863A>C n.393A>C c.2129A>C (p.Gln710Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.107710171A>G | CA368846056 | SLC26A4 | c.2207A>G (p.Gln736Arg) c.863A>G n.393A>G c.2129A>G (p.Gln710Arg) | |
7 | g.107710171A>T | CA368846058 | SLC26A4 | c.2207A>T (p.Gln736Leu) c.863A>T n.393A>T c.2129A>T (p.Gln710Leu) | |
7 | g.107710172A>C | CA368846060 | SLC26A4 | c.2208A>C (p.Gln736His) c.864A>C n.394A>C c.2130A>C (p.Gln710His) | gnomAD v4 |
7 | g.107710172A>G | CA457104668 | SLC26A4 | c.2208A>G (p.Gln736=) c.864A>G n.394A>G c.2130A>G (p.Gln710=) | COSMIC |
7 | g.107710172A>T | CA368846062 | SLC26A4 | c.2208A>T (p.Gln736His) c.864A>T n.394A>T c.2130A>T (p.Gln710His) | |
7 | g.107710173G>A | CA4433075 | SLC26A4 | c.2209G>A (p.Glu737Lys) c.865G>A n.395G>A c.2131G>A (p.Glu711Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710173G>C | CA4433074 | SLC26A4 | c.2209G>C (p.Glu737Gln) c.865G>C n.395G>C c.2131G>C (p.Glu711Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710173G= | CA1732751388 | SLC26A4 | c.2209G= (p.Glu737=) c.865G= n.395G= c.2131G= (p.Glu711=) | |
7 | g.107710173G>T | CA368846069 | SLC26A4 | c.2209G>T (p.Glu737Ter) c.865G>T n.395G>T c.2131G>T (p.Glu711Ter) | |
7 | g.107710174A>C | CA368846072 | SLC26A4 | c.2210A>C (p.Glu737Ala) c.866A>C n.396A>C c.2132A>C (p.Glu711Ala) | |
7 | g.107710174A>G | CA368846075 | SLC26A4 | c.2210A>G (p.Glu737Gly) c.866A>G n.396A>G c.2132A>G (p.Glu711Gly) | gnomAD v4 |
7 | g.107710174A>T | CA368846077 | SLC26A4 | c.2210A>T (p.Glu737Val) c.866A>T n.396A>T c.2132A>T (p.Glu711Val) | |
7 | g.107710175G>A | CA457104682 | SLC26A4 | c.2211G>A (p.Glu737=) c.867G>A n.397G>A c.2133G>A (p.Glu711=) | gnomAD v4 |
7 | g.107710175G>C | CA180650 | SLC26A4 | c.2211G>C (p.Glu737Asp) c.867G>C n.397G>C c.2133G>C (p.Glu711Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710175G= | CA1732751390 | SLC26A4 | c.2211G= (p.Glu737=) c.867G= n.397G= c.2133G= (p.Glu711=) | |
7 | g.107710175G>T | CA368846081 | SLC26A4 | c.2211G>T (p.Glu737Asp) c.867G>T n.397G>T c.2133G>T (p.Glu711Asp) | |
7 | g.107710176G>A | CA4433077 | SLC26A4 | c.2212G>A (p.Gly738Ser) c.868G>A n.398G>A c.2134G>A (p.Gly712Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710176G>C | CA368846085 | SLC26A4 | c.2212G>C (p.Gly738Arg) c.868G>C n.398G>C c.2134G>C (p.Gly712Arg) | |
7 | g.107710176G= | CA1732751392 | SLC26A4 | c.2212G= (p.Gly738=) c.868G= n.398G= c.2134G= (p.Gly712=) | |
7 | g.107710176G>T | CA4433076 | SLC26A4 | c.2212G>T (p.Gly738Cys) c.868G>T n.398G>T c.2134G>T (p.Gly712Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710177G>A | CA368846088 | SLC26A4 | c.2213G>A (p.Gly738Asp) c.869G>A n.399G>A c.2135G>A (p.Gly712Asp) | COSMIC |
7 | g.107710177G>C | CA368846090 | SLC26A4 | c.2213G>C (p.Gly738Ala) c.869G>C n.399G>C c.2135G>C (p.Gly712Ala) | |
7 | g.107710177G>T | CA368846092 | SLC26A4 | c.2213G>T (p.Gly738Val) c.869G>T n.399G>T c.2135G>T (p.Gly712Val) | |
7 | g.107710178T>A | CA457104693 | SLC26A4 | c.2214T>A (p.Gly738=) c.870T>A n.400T>A c.2136T>A (p.Gly712=) | |
7 | g.107710178T>C | CA457104694 | SLC26A4 | c.2214T>C (p.Gly738=) c.870T>C n.400T>C c.2136T>C (p.Gly712=) | |
7 | g.107710178T>G | CA457104696 | SLC26A4 | c.2214T>G (p.Gly738=) c.870T>G n.400T>G c.2136T>G (p.Gly712=) | |
7 | g.107710179C>A | CA368846098 | SLC26A4 | c.2215C>A (p.Gln739Lys) c.871C>A n.401C>A c.2137C>A (p.Gln713Lys) | gnomAD v4 |
7 | g.107710179C= | CA1732751394 | SLC26A4 | c.2215C= (p.Gln739=) c.871C= n.401C= c.2137C= (p.Gln713=) | |
7 | g.107710179C>G | CA368846095 | SLC26A4 | c.2215C>G (p.Gln739Glu) c.871C>G n.401C>G c.2137C>G (p.Gln713Glu) | dbSNP |
7 | g.107710179C>T | CA273228 | SLC26A4 | c.2215C>T (p.Gln739Ter) c.871C>T n.401C>T c.2137C>T (p.Gln713Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.107710179dup | CA2695199617 | SLC26A4 | c.2215dup (p.Gln739ProfsTer15) c.871dup n.401dup c.2137dup (p.Gln713ProfsTer15) | ClinVar |
7 | g.107710180A= | CA1732751395 | SLC26A4 | c.2216A= (p.Gln739=) c.872A= n.402A= c.2138A= (p.Gln713=) | |
7 | g.107710180A>C | CA368846100 | SLC26A4 | c.2216A>C (p.Gln739Pro) c.872A>C n.402A>C c.2138A>C (p.Gln713Pro) | |
7 | g.107710180A>G | CA4433078 | SLC26A4 | c.2216A>G (p.Gln739Arg) c.872A>G n.402A>G c.2138A>G (p.Gln713Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710180A>T | CA368846104 | SLC26A4 | c.2216A>T (p.Gln739Leu) c.872A>T n.402A>T c.2138A>T (p.Gln713Leu) | |
7 | g.107710181A>C | CA368846106 | SLC26A4 | c.2217A>C (p.Gln739His) c.873A>C n.403A>C c.2139A>C (p.Gln713His) | |
7 | g.107710181A>G | CA457104709 | SLC26A4 | c.2217A>G (p.Gln739=) c.873A>G n.403A>G c.2139A>G (p.Gln713=) | ClinVar gnomAD v4 |
7 | g.107710181A>T | CA368846109 | SLC26A4 | c.2217A>T (p.Gln739His) c.873A>T n.403A>T c.2139A>T (p.Gln713His) | |
7 | g.107710182G>A | CA132709 | SLC26A4 | c.2218G>A (p.Gly740Ser) c.874G>A n.404G>A c.2140G>A (p.Gly714Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710182G>C | CA368846115 | SLC26A4 | c.2218G>C (p.Gly740Arg) c.874G>C n.404G>C c.2140G>C (p.Gly714Arg) | |
7 | g.107710182G= | CA1732751399 | SLC26A4 | c.2218G= (p.Gly740=) c.874G= n.404G= c.2140G= (p.Gly714=) | |
7 | g.107710182G>T | CA368846112 | SLC26A4 | c.2218G>T (p.Gly740Cys) c.874G>T n.404G>T c.2140G>T (p.Gly714Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710183G>A | CA368846117 | SLC26A4 | c.2219G>A (p.Gly740Asp) c.875G>A n.405G>A c.2141G>A (p.Gly714Asp) | gnomAD v4 |
7 | g.107710183G>C | CA4433079 | SLC26A4 | c.2219G>C (p.Gly740Ala) c.875G>C n.405G>C c.2141G>C (p.Gly714Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710183G= | CA1732751401 | SLC26A4 | c.2219G= (p.Gly740=) c.875G= n.405G= c.2141G= (p.Gly714=) | |
7 | g.107710183G>T | CA132711 | SLC26A4 | c.2219G>T (p.Gly740Val) c.875G>T n.405G>T c.2141G>T (p.Gly714Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710184T>A | CA4433080 | SLC26A4 | c.2220T>A (p.Gly740=) c.876T>A n.406T>A c.2142T>A (p.Gly714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710184T>C | CA457104722 | SLC26A4 | c.2220T>C (p.Gly740=) c.876T>C n.406T>C c.2142T>C (p.Gly714=) | gnomAD v4 |
7 | g.107710184T>G | CA457104724 | SLC26A4 | c.2220T>G (p.Gly740=) c.876T>G n.406T>G c.2142T>G (p.Gly714=) | |
7 | g.107710184T= | CA1732751404 | SLC26A4 | c.2220T= (p.Gly740=) c.876T= n.406T= c.2142T= (p.Gly714=) | |
7 | g.107710185T>A | CA368846120 | SLC26A4 | c.2221T>A (p.Ser741Thr) c.877T>A n.407T>A c.2143T>A (p.Ser715Thr) | |
7 | g.107710185T>C | CA368846121 | SLC26A4 | c.2221T>C (p.Ser741Pro) c.877T>C n.407T>C c.2143T>C (p.Ser715Pro) | |
7 | g.107710185T>G | CA368846122 | SLC26A4 | c.2221T>G (p.Ser741Ala) c.877T>G n.407T>G c.2143T>G (p.Ser715Ala) | |
7 | g.107710186C>A | CA368846123 | SLC26A4 | c.2222C>A (p.Ser741Tyr) c.878C>A n.408C>A c.2144C>A (p.Ser715Tyr) | |
7 | g.107710186C>G | CA368846124 | SLC26A4 | c.2222C>G (p.Ser741Cys) c.878C>G n.408C>G c.2144C>G (p.Ser715Cys) | |
7 | g.107710186C>T | CA368846126 | SLC26A4 | c.2222C>T (p.Ser741Phe) c.878C>T n.408C>T c.2144C>T (p.Ser715Phe) | |
7 | g.107710187C>A | CA457104736 | SLC26A4 | c.2223C>A (p.Ser741=) c.879C>A n.409C>A c.2145C>A (p.Ser715=) | |
7 | g.107710187C>G | CA457104738 | SLC26A4 | c.2223C>G (p.Ser741=) c.879C>G n.409C>G c.2145C>G (p.Ser715=) | |
7 | g.107710187C>T | CA457104740 | SLC26A4 | c.2223C>T (p.Ser741=) c.879C>T n.409C>T c.2145C>T (p.Ser715=) | ClinVar dbSNP COSMIC |
7 | g.107710187_107710188delinsCA | CA1732751405 | SLC26A4 | c.2223_2224delinsCA (p.Ser741=) c.879_880delinsCA n.409_410delinsCA c.2145_2146delinsCA (p.Ser715=) | |
7 | g.107710188del | CA10576715 | SLC26A4 | c.2224del (p.Ile742PhefsTer2) c.880del n.410del c.2146del (p.Ile716PhefsTer2) | ClinVar dbSNP |
7 | g.107710188A= | CA1732751408 | SLC26A4 | c.2224A= (p.Ile742=) c.880A= n.410A= c.2146A= (p.Ile716=) | |
7 | g.107710188A>C | CA368846131 | SLC26A4 | c.2224A>C (p.Ile742Leu) c.880A>C n.410A>C c.2146A>C (p.Ile716Leu) | |
7 | g.107710188A>G | CA368846129 | SLC26A4 | c.2224A>G (p.Ile742Val) c.880A>G n.410A>G c.2146A>G (p.Ile716Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710188A>T | CA368846134 | SLC26A4 | c.2224A>T (p.Ile742Phe) c.880A>T n.410A>T c.2146A>T (p.Ile716Phe) | |
7 | g.107710189T>A | CA368846139 | SLC26A4 | c.2225T>A (p.Ile742Asn) c.881T>A n.411T>A c.2147T>A (p.Ile716Asn) | |
7 | g.107710189T>C | CA368846137 | SLC26A4 | c.2225T>C (p.Ile742Thr) c.881T>C n.411T>C c.2147T>C (p.Ile716Thr) | gnomAD v4 |
7 | g.107710189T>G | CA368846142 | SLC26A4 | c.2225T>G (p.Ile742Ser) c.881T>G n.411T>G c.2147T>G (p.Ile716Ser) | |
7 | g.107710192del | CA2684468718 | SLC26A4 | c.2228del (p.Leu743Ter) c.884del n.414del c.2150del (p.Leu717Ter) | gnomAD v4 |
7 | g.107710190T>A | CA457104749 | SLC26A4 | c.2226T>A (p.Ile742=) c.882T>A n.412T>A c.2148T>A (p.Ile716=) | |
7 | g.107710190T>C | CA457104750 | SLC26A4 | c.2226T>C (p.Ile742=) c.882T>C n.412T>C c.2148T>C (p.Ile716=) | |
7 | g.107710190T>G | CA368846145 | SLC26A4 | c.2226T>G (p.Ile742Met) c.882T>G n.412T>G c.2148T>G (p.Ile716Met) | |
7 | g.107710191T>A | CA4433082 | SLC26A4 | c.2227T>A (p.Leu743Ile) c.883T>A n.413T>A c.2149T>A (p.Leu717Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710191T>C | CA457104751 | SLC26A4 | c.2227T>C (p.Leu743=) c.883T>C n.413T>C c.2149T>C (p.Leu717=) | gnomAD v4 |
7 | g.107710191T>G | CA4433081 | SLC26A4 | c.2227T>G (p.Leu743Val) c.883T>G n.413T>G c.2149T>G (p.Leu717Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710191T= | CA1732751411 | SLC26A4 | c.2227T= (p.Leu743=) c.883T= n.413T= c.2149T= (p.Leu717=) | |
7 | g.107710192T>A | CA16041118 | SLC26A4 | c.2228T>A (p.Leu743Ter) c.884T>A n.414T>A c.2150T>A (p.Leu717Ter) | ClinVar dbSNP |
7 | g.107710192T>C | CA368846153 | SLC26A4 | c.2228T>C (p.Leu743Ser) c.884T>C n.414T>C c.2150T>C (p.Leu717Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710192T>G | CA368846155 | SLC26A4 | c.2228T>G (p.Leu743Ter) c.884T>G n.414T>G c.2150T>G (p.Leu717Ter) | |
7 | g.107710192T= | CA1732751414 | SLC26A4 | c.2228T= (p.Leu743=) c.884T= n.414T= c.2150T= (p.Leu717=) | |
7 | g.107710193A= | CA1732751416 | SLC26A4 | c.2229A= (p.Leu743=) c.885A= n.415A= c.2151A= (p.Leu717=) | |
7 | g.107710193A>C | CA368846158 | SLC26A4 | c.2229A>C (p.Leu743Phe) c.885A>C n.415A>C c.2151A>C (p.Leu717Phe) | |
7 | g.107710193A>G | CA4433083 | SLC26A4 | c.2229A>G (p.Leu743=) c.885A>G n.415A>G c.2151A>G (p.Leu717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710193A>T | CA368846162 | SLC26A4 | c.2229A>T (p.Leu743Phe) c.885A>T n.415A>T c.2151A>T (p.Leu717Phe) | |
7 | g.107710194G>A | CA368846164 | SLC26A4 | c.2230G>A (p.Glu744Lys) c.886G>A n.416G>A c.2152G>A (p.Glu718Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710194G>C | CA368846167 | SLC26A4 | c.2230G>C (p.Glu744Gln) c.886G>C n.416G>C c.2152G>C (p.Glu718Gln) | |
7 | g.107710194G= | CA1732751417 | SLC26A4 | c.2230G= (p.Glu744=) c.886G= n.416G= c.2152G= (p.Glu718=) | |
7 | g.107710194G>T | CA368846170 | SLC26A4 | c.2230G>T (p.Glu744Ter) c.886G>T n.416G>T c.2152G>T (p.Glu718Ter) | |
7 | g.107710195A>C | CA368846177 | SLC26A4 | c.2231A>C (p.Glu744Ala) c.887A>C n.417A>C c.2153A>C (p.Glu718Ala) | gnomAD v4 |
7 | g.107710195A>G | CA368846174 | SLC26A4 | c.2231A>G (p.Glu744Gly) c.887A>G n.417A>G c.2153A>G (p.Glu718Gly) | |
7 | g.107710195A>T | CA368846173 | SLC26A4 | c.2231A>T (p.Glu744Val) c.887A>T n.417A>T c.2153A>T (p.Glu718Val) | |
7 | g.107710196A>C | CA368846179 | SLC26A4 | c.2232A>C (p.Glu744Asp) c.888A>C n.418A>C c.2154A>C (p.Glu718Asp) | |
7 | g.107710196A>G | CA457104982 | SLC26A4 | c.2232A>G (p.Glu744=) c.888A>G n.418A>G c.2154A>G (p.Glu718=) | |
7 | g.107710196A>T | CA368846181 | SLC26A4 | c.2232A>T (p.Glu744Asp) c.888A>T n.418A>T c.2154A>T (p.Glu718Asp) | |
7 | g.107710197A>C | CA368846183 | SLC26A4 | c.2233A>C (p.Thr745Pro) c.889A>C n.419A>C c.2155A>C (p.Thr719Pro) | |
7 | g.107710197A>G | CA368846186 | SLC26A4 | c.2233A>G (p.Thr745Ala) c.889A>G n.419A>G c.2155A>G (p.Thr719Ala) | |
7 | g.107710197A>T | CA368846188 | SLC26A4 | c.2233A>T (p.Thr745Ser) c.889A>T n.419A>T c.2155A>T (p.Thr719Ser) | |
7 | g.107710198del | CA2684468720 | SLC26A4 | c.2234del (p.Thr745ArgfsTer14) c.890del n.420del c.2156del (p.Thr719ArgfsTer14) | gnomAD v4 |
7 | g.107710198C>A | CA368846189 | SLC26A4 | c.2234C>A (p.Thr745Lys) c.890C>A n.420C>A c.2156C>A (p.Thr719Lys) | gnomAD v4 COSMIC |
7 | g.107710198C= | CA1732751419 | SLC26A4 | c.2234C= (p.Thr745=) c.890C= n.420C= c.2156C= (p.Thr719=) | |
7 | g.107710198C>G | CA368846192 | SLC26A4 | c.2234C>G (p.Thr745Arg) c.890C>G n.420C>G c.2156C>G (p.Thr719Arg) | |
7 | g.107710198C>T | CA4433084 | SLC26A4 | c.2234C>T (p.Thr745Met) c.890C>T n.420C>T c.2156C>T (p.Thr719Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710199G>A | CA4433085 | SLC26A4 | c.2235G>A (p.Thr745=) c.891G>A n.421G>A c.2157G>A (p.Thr719=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710199G>C | CA164228243 | SLC26A4 | c.2235G>C (p.Thr745=) c.891G>C n.421G>C c.2157G>C (p.Thr719=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710199G= | CA1732751420 | SLC26A4 | c.2235G= (p.Thr745=) c.891G= n.421G= c.2157G= (p.Thr719=) | |
7 | g.107710199G>T | CA457104990 | SLC26A4 | c.2235G>T (p.Thr745=) c.891G>T n.421G>T c.2157G>T (p.Thr719=) | gnomAD v4 |
7 | g.107710200G>A | CA368846197 | SLC26A4 | c.2235+1G>A (n.2235+1G>A) c.891+1G>A n.421+1G>A c.2157+1G>A (n.2157+1G>A) | dbSNP gnomAD v4 |
7 | g.107710200G>C | CA368846199 | SLC26A4 | c.2235+1G>C (n.2235+1G>C) c.891+1G>C n.421+1G>C c.2157+1G>C (n.2157+1G>C) | |
7 | g.107710200G>T | CA368846201 | SLC26A4 | c.2235+1G>T (n.2235+1G>T) c.891+1G>T n.421+1G>T c.2157+1G>T (n.2157+1G>T) | |
7 | g.107710201T>A | CA368846205 | SLC26A4 | c.2235+2T>A (n.2235+2T>A) c.891+2T>A n.421+2T>A c.2157+2T>A (n.2157+2T>A) | gnomAD v4 |
7 | g.107710201T>C | CA368846207 | SLC26A4 | c.2235+2T>C (n.2235+2T>C) c.891+2T>C n.421+2T>C c.2157+2T>C (n.2157+2T>C) | ClinVar dbSNP |
7 | g.107710201T>G | CA368846203 | SLC26A4 | c.2235+2T>G (n.2235+2T>G) c.891+2T>G n.421+2T>G c.2157+2T>G (n.2157+2T>G) | |
7 | g.107710201T= | CA1732751422 | SLC26A4 | c.2235+2T= (n.2235+2T=) c.891+2T= n.421+2T= c.2157+2T= (n.2157+2T=) | |
7 | g.107710202A>C | CA2715583572 | SLC26A4 | c.2235+3A>C (n.2235+3A>C) c.891+3A>C n.421+3A>C c.2157+3A>C (n.2157+3A>C) | dbSNP |
7 | g.107710202A>T | CA2684468722 | SLC26A4 | c.2235+3A>T (n.2235+3A>T) c.891+3A>T n.421+3A>T c.2157+3A>T (n.2157+3A>T) | gnomAD v4 |
7 | g.107710204dup | CA2684468721 | SLC26A4 | c.2235+5dup (n.2235+5dup) c.891+5dup n.421+5dup c.2157+5dup (n.2157+5dup) | gnomAD v4 |
7 | g.107710204A>C | CA2715583577 | SLC26A4 | c.2235+5A>C (n.2235+5A>C) c.891+5A>C n.421+5A>C c.2157+5A>C (n.2157+5A>C) | dbSNP |
7 | g.107710204A>G | CA2684468723 | SLC26A4 | c.2235+5A>G (n.2235+5A>G) c.891+5A>G n.421+5A>G c.2157+5A>G (n.2157+5A>G) | gnomAD v4 |
7 | g.107710205T>C | CA2684468724 | SLC26A4 | c.2235+6T>C (n.2235+6T>C) c.891+6T>C n.421+6T>C c.2157+6T>C (n.2157+6T>C) | gnomAD v4 |
7 | g.107710205_107710206insCTC | CA2715583578 | SLC26A4 | c.2235+6_2235+7insCTC (n.2235+6_2235+7insCTC) c.891+6_891+7insCTC n.421+6_421+7insCTC c.2157+6_2157+7insCTC (n.2157+6_2157+7insCTC) | dbSNP |
7 | g.107710206A>T | CA2684468725 | SLC26A4 | c.2235+7A>T (n.2235+7A>T) c.891+7A>T n.421+7A>T c.2157+7A>T (n.2157+7A>T) | gnomAD v4 |
7 | g.107710207T>G | CA1732751425 | SLC26A4 | c.2235+8T>G (n.2235+8T>G) c.891+8T>G n.421+8T>G c.2157+8T>G (n.2157+8T>G) | dbSNP gnomAD v4 |
7 | g.107710207T= | CA1732751424 | SLC26A4 | c.2235+8T= (n.2235+8T=) c.891+8T= n.421+8T= c.2157+8T= (n.2157+8T=) | |
7 | g.107710209C>A | CA1732751427 | SLC26A4 | c.2235+10C>A (n.2235+10C>A) c.891+10C>A n.421+10C>A c.2157+10C>A (n.2157+10C>A) | ClinVar dbSNP gnomAD v4 |
7 | g.107710209C= | CA1732751426 | SLC26A4 | c.2235+10C= (n.2235+10C=) c.891+10C= n.421+10C= c.2157+10C= (n.2157+10C=) | |
7 | g.107710210A>G | CA2684468727 | SLC26A4 | c.2235+11A>G (n.2235+11A>G) c.891+11A>G n.421+11A>G c.2157+11A>G (n.2157+11A>G) | gnomAD v4 |
7 | g.107710211A= | CA1732751428 | SLC26A4 | c.2235+12A= (n.2235+12A=) c.891+12A= n.421+12A= c.2157+12A= (n.2157+12A=) | |
7 | g.107710211A>G | CA4433086 | SLC26A4 | c.2235+12A>G (n.2235+12A>G) c.891+12A>G n.421+12A>G c.2157+12A>G (n.2157+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710212C>A | CA1732751430 | SLC26A4 | c.2235+13C>A (n.2235+13C>A) c.891+13C>A n.421+13C>A c.2157+13C>A (n.2157+13C>A) | dbSNP gnomAD v4 |
7 | g.107710212C= | CA1732751429 | SLC26A4 | c.2235+13C= (n.2235+13C=) c.891+13C= n.421+13C= c.2157+13C= (n.2157+13C=) | |
7 | g.107710212C>T | CA577030687 | SLC26A4 | c.2235+13C>T (n.2235+13C>T) c.891+13C>T n.421+13C>T c.2157+13C>T (n.2157+13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710213C>A | CA4433088 | SLC26A4 | c.2235+14C>A (n.2235+14C>A) c.891+14C>A n.421+14C>A c.2157+14C>A (n.2157+14C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710213C= | CA1732751431 | SLC26A4 | c.2235+14C= (n.2235+14C=) c.891+14C= n.421+14C= c.2157+14C= (n.2157+14C=) | |
7 | g.107710213C>T | CA4433087 | SLC26A4 | c.2235+14C>T (n.2235+14C>T) c.891+14C>T n.421+14C>T c.2157+14C>T (n.2157+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710214T>C | CA2684468729 | SLC26A4 | c.2235+15T>C (n.2235+15T>C) c.891+15T>C n.421+15T>C c.2157+15T>C (n.2157+15T>C) | gnomAD v4 |
7 | g.107710215_107710216del | CA2684468728 | SLC26A4 | c.2235+16_2235+17del (n.2235+16_2235+17del) c.891+16_891+17del n.421+16_421+17del c.2157+16_2157+17del (n.2157+16_2157+17del) | gnomAD v4 |
7 | g.107710215T>C | CA2684468730 | SLC26A4 | c.2235+16T>C (n.2235+16T>C) c.891+16T>C n.421+16T>C c.2157+16T>C (n.2157+16T>C) | gnomAD v4 |
7 | g.107710215T>G | CA4433089 | SLC26A4 | c.2235+16T>G (n.2235+16T>G) c.891+16T>G n.421+16T>G c.2157+16T>G (n.2157+16T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710215T= | CA1732751433 | SLC26A4 | c.2235+16T= (n.2235+16T=) c.891+16T= n.421+16T= c.2157+16T= (n.2157+16T=) | |
7 | g.107710217C>A | CA2684468731 | SLC26A4 | c.2235+18C>A (n.2235+18C>A) c.891+18C>A n.421+18C>A c.2157+18C>A (n.2157+18C>A) | gnomAD v4 |
7 | g.107710218T>C | CA2684468732 | SLC26A4 | c.2235+19T>C (n.2235+19T>C) c.891+19T>C n.421+19T>C c.2157+19T>C (n.2157+19T>C) | gnomAD v4 |
7 | g.107710220C>A | CA2684468733 | SLC26A4 | c.2235+21C>A (n.2235+21C>A) c.891+21C>A n.421+21C>A c.2157+21C>A (n.2157+21C>A) | gnomAD v4 |
7 | g.107710220C>T | CA2684468734 | SLC26A4 | c.2235+21C>T (n.2235+21C>T) c.891+21C>T n.421+21C>T c.2157+21C>T (n.2157+21C>T) | gnomAD v4 |
7 | g.107710221A>G | CA2684468735 | SLC26A4 | c.2235+22A>G (n.2235+22A>G) c.891+22A>G n.421+22A>G c.2157+22A>G (n.2157+22A>G) | gnomAD v4 |
7 | g.107710222G>A | CA2684468736 | SLC26A4 | c.2235+23G>A (n.2235+23G>A) c.891+23G>A n.421+23G>A c.2157+23G>A (n.2157+23G>A) | gnomAD v4 |
7 | g.107710223A= | CA1732751434 | SLC26A4 | c.2235+24A= (n.2235+24A=) c.891+24A= n.421+24A= c.2157+24A= (n.2157+24A=) | |
7 | g.107710223A>G | CA164228281 | SLC26A4 | c.2235+24A>G (n.2235+24A>G) c.891+24A>G n.421+24A>G c.2157+24A>G (n.2157+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710223A>T | CA4433090 | SLC26A4 | c.2235+24A>T (n.2235+24A>T) c.891+24A>T n.421+24A>T c.2157+24A>T (n.2157+24A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710224T>C | CA2684468737 | SLC26A4 | c.2235+25T>C (n.2235+25T>C) c.891+25T>C n.421+25T>C c.2157+25T>C (n.2157+25T>C) | gnomAD v4 |
7 | g.107710225G>A | CA2684468738 | SLC26A4 | c.2235+26G>A (n.2235+26G>A) c.891+26G>A n.421+26G>A c.2157+26G>A (n.2157+26G>A) | gnomAD v4 |
7 | g.107710226T>C | CA2684468739 | SLC26A4 | c.2235+27T>C (n.2235+27T>C) c.891+27T>C n.421+27T>C c.2157+27T>C (n.2157+27T>C) | gnomAD v4 |
7 | g.107710227A>G | CA2684468740 | SLC26A4 | c.2235+28A>G (n.2235+28A>G) c.891+28A>G n.421+28A>G c.2157+28A>G (n.2157+28A>G) | gnomAD v4 |
7 | g.107710228T>A | CA831174672 | SLC26A4 | c.2235+29T>A (n.2235+29T>A) c.891+29T>A n.421+29T>A c.2157+29T>A (n.2157+29T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710228T>C | CA2684468741 | SLC26A4 | c.2235+29T>C (n.2235+29T>C) c.891+29T>C n.421+29T>C c.2157+29T>C (n.2157+29T>C) | gnomAD v4 |
7 | g.107710228T= | CA1732751436 | SLC26A4 | c.2235+29T= (n.2235+29T=) c.891+29T= n.421+29T= c.2157+29T= (n.2157+29T=) | |
7 | g.107710229C>A | CA2684468742 | SLC26A4 | c.2235+30C>A (n.2235+30C>A) c.891+30C>A n.421+30C>A c.2157+30C>A (n.2157+30C>A) | gnomAD v4 |
7 | g.107710229C= | CA1732751437 | SLC26A4 | c.2235+30C= (n.2235+30C=) c.891+30C= n.421+30C= c.2157+30C= (n.2157+30C=) | |
7 | g.107710229C>G | CA4433091 | SLC26A4 | c.2235+30C>G (n.2235+30C>G) c.891+30C>G n.421+30C>G c.2157+30C>G (n.2157+30C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710230T>A | CA2715583607 | SLC26A4 | c.2235+31T>A (n.2235+31T>A) c.891+31T>A n.421+31T>A c.2157+31T>A (n.2157+31T>A) | dbSNP |
7 | g.107710231T>C | CA2684468743 | SLC26A4 | c.2235+32T>C (n.2235+32T>C) c.891+32T>C n.421+32T>C c.2157+32T>C (n.2157+32T>C) | gnomAD v4 |
7 | g.107710232T>C | CA2578989109 | SLC26A4 | c.2235+33T>C (n.2235+33T>C) c.891+33T>C n.421+33T>C c.2157+33T>C (n.2157+33T>C) | |
7 | g.107710232T>G | CA577030688 | SLC26A4 | c.2235+33T>G (n.2235+33T>G) c.891+33T>G n.421+33T>G c.2157+33T>G (n.2157+33T>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710232T= | CA1732751438 | SLC26A4 | c.2235+33T= (n.2235+33T=) c.891+33T= n.421+33T= c.2157+33T= (n.2157+33T=) | |
7 | g.107710234C>A | CA2684468744 | SLC26A4 | c.2235+35C>A (n.2235+35C>A) c.891+35C>A n.421+35C>A c.2157+35C>A (n.2157+35C>A) | gnomAD v4 |
7 | g.107710234C>T | CA2529679720 | SLC26A4 | c.2235+35C>T (n.2235+35C>T) c.891+35C>T n.421+35C>T c.2157+35C>T (n.2157+35C>T) |