Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107710132A= | CA1732751341 | SLC26A4 | c.2168A= (p.His723=) c.824A= n.377-23A= c.2090A= (p.His697=) | |
7 | g.107710132A>C | CA368845873 | SLC26A4 | c.2168A>C (p.His723Pro) c.824A>C n.377-23A>C c.2090A>C (p.His697Pro) | gnomAD v4 |
7 | g.107710132A>G | CA253307 | SLC26A4 | c.2168A>G (p.His723Arg) c.824A>G n.377-23A>G c.2090A>G (p.His697Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.[107710132A>G;107715429C>G] | CA2499306164 | SLC26A4 | c.[2168A>G;2326C>G] (p.[His723Arg;Arg776Gly]) c.[824A>G;982C>G] n.[377-23A>G;512C>G] c.[2090A>G;2248C>G] (p.[His697Arg;Arg750Gly]) | ClinVar |
7 | g.107710132A>T | CA368845876 | SLC26A4 | c.2168A>T (p.His723Leu) c.824A>T n.377-23A>T c.2090A>T (p.His697Leu) | gnomAD v4 |
7 | g.107710133T>A | CA368845878 | SLC26A4 | c.2169T>A (p.His723Gln) c.825T>A n.377-22T>A c.2091T>A (p.His697Gln) | |
7 | g.107710133T>C | CA457104606 | SLC26A4 | c.2169T>C (p.His723=) c.825T>C n.377-22T>C c.2091T>C (p.His697=) | |
7 | g.107710133T>G | CA368845880 | SLC26A4 | c.2169T>G (p.His723Gln) c.825T>G n.377-22T>G c.2091T>G (p.His697Gln) | |
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) |