Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107710092G>A | CA368845640 | SLC26A4 | c.2128G>A (p.Asp710Asn) c.784G>A n.377-63G>A c.2050G>A (p.Asp684Asn) | gnomAD v4 |
7 | g.107710092G>C | CA368845641 | SLC26A4 | c.2128G>C (p.Asp710His) c.784G>C n.377-63G>C c.2050G>C (p.Asp684His) | gnomAD v4 |
7 | g.107710092G= | CA1732751241 | SLC26A4 | c.2128G= (p.Asp710=) c.784G= n.377-63G= c.2050G= (p.Asp684=) | |
7 | g.107710092G>T | CA368845642 | SLC26A4 | c.2128G>T (p.Asp710Tyr) c.784G>T n.377-63G>T c.2050G>T (p.Asp684Tyr) | dbSNP |
7 | g.107710093A>C | CA368845643 | SLC26A4 | c.2129A>C (p.Asp710Ala) c.785A>C n.377-62A>C c.2051A>C (p.Asp684Ala) | |
7 | g.107710093A>G | CA368845644 | SLC26A4 | c.2129A>G (p.Asp710Gly) c.785A>G n.377-62A>G c.2051A>G (p.Asp684Gly) | |
7 | g.107710093A>T | CA368845645 | SLC26A4 | c.2129A>T (p.Asp710Val) c.785A>T n.377-62A>T c.2051A>T (p.Asp684Val) | |
7 | g.107710094C>A | CA368845650 | SLC26A4 | c.2130C>A (p.Asp710Glu) c.786C>A n.377-61C>A c.2052C>A (p.Asp684Glu) | dbSNP gnomAD v4 |
7 | g.107710094C= | CA1732751246 | SLC26A4 | c.2130C= (p.Asp710=) c.786C= n.377-61C= c.2052C= (p.Asp684=) | |
7 | g.107710094C>G | CA368845649 | SLC26A4 | c.2130C>G (p.Asp710Glu) c.786C>G n.377-61C>G c.2052C>G (p.Asp684Glu) | |
7 | g.107710094C>T | CA132701 | SLC26A4 | c.2130C>T (p.Asp710=) c.786C>T n.377-61C>T c.2052C>T (p.Asp684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710095G>A | CA132703 | SLC26A4 | c.2131G>A (p.Asp711Asn) c.787G>A n.377-60G>A c.2053G>A (p.Asp685Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.107710095G>C | CA368845655 | SLC26A4 | c.2131G>C (p.Asp711His) c.787G>C n.377-60G>C c.2053G>C (p.Asp685His) | |
7 | g.107710095G= | CA1732751254 | SLC26A4 | c.2131G= (p.Asp711=) c.787G= n.377-60G= c.2053G= (p.Asp685=) | |
7 | g.107710095G>T | CA4433053 | SLC26A4 | c.2131G>T (p.Asp711Tyr) c.787G>T n.377-60G>T c.2053G>T (p.Asp685Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710095_107710098del | CA913111823 | SLC26A4 | c.2131_2134del (p.Asp711ThrfsTer9) c.787_790del n.377-60_377-57del c.2053_2056del (p.Asp685ThrfsTer9) | |
7 | g.107710095_107710098delinsGACA | CA1732751252 | SLC26A4 | c.2131_2134delinsGACA (p.Asp711=) c.787_790delinsGACA n.377-60_377-57delinsGACA c.2053_2056delinsGACA (p.Asp685=) | |
7 | g.107710096A= | CA1732751259 | SLC26A4 | c.2132A= (p.Asp711=) c.788A= n.377-59A= c.2054A= (p.Asp685=) | |
7 | g.107710096A>C | CA368845659 | SLC26A4 | c.2132A>C (p.Asp711Ala) c.788A>C n.377-59A>C c.2054A>C (p.Asp685Ala) | |
7 | g.107710096A>G | CA368845664 | SLC26A4 | c.2132A>G (p.Asp711Gly) c.788A>G n.377-59A>G c.2054A>G (p.Asp685Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710096A>T | CA368845667 | SLC26A4 | c.2132A>T (p.Asp711Val) c.788A>T n.377-59A>T c.2054A>T (p.Asp685Val) | |
7 | g.107710099_107710101del | CA658821811 | SLC26A4 | c.2135_2137del (p.Asn712del) c.791_793del n.377-56_377-54del c.2057_2059del (p.Asn686del) | ClinVar dbSNP |
7 | g.107710097C>A | CA368845668 | SLC26A4 | c.2133C>A (p.Asp711Glu) c.789C>A n.377-58C>A c.2055C>A (p.Asp685Glu) | |
7 | g.107710097C>G | CA368845670 | SLC26A4 | c.2133C>G (p.Asp711Glu) c.789C>G n.377-58C>G c.2055C>G (p.Asp685Glu) | |
7 | g.107710097C>T | CA457104587 | SLC26A4 | c.2133C>T (p.Asp711=) c.789C>T n.377-58C>T c.2055C>T (p.Asp685=) | gnomAD v4 |
7 | g.107710098A= | CA1732751265 | SLC26A4 | c.2134A= (p.Asn712=) c.790A= n.377-57A= c.2056A= (p.Asn686=) | |
7 | g.107710098A>C | CA368845672 | SLC26A4 | c.2134A>C (p.Asn712His) c.790A>C n.377-57A>C c.2056A>C (p.Asn686His) | |
7 | g.107710098A>G | CA368845675 | SLC26A4 | c.2134A>G (p.Asn712Asp) c.790A>G n.377-57A>G c.2056A>G (p.Asn686Asp) | dbSNP |
7 | g.107710098A>T | CA368845679 | SLC26A4 | c.2134A>T (p.Asn712Tyr) c.790A>T n.377-57A>T c.2056A>T (p.Asn686Tyr) | |
7 | g.107710099A= | CA1732751269 | SLC26A4 | c.2135A= (p.Asn712=) c.791A= n.377-56A= c.2057A= (p.Asn686=) | |
7 | g.107710099A>C | CA368845684 | SLC26A4 | c.2135A>C (p.Asn712Thr) c.791A>C n.377-56A>C c.2057A>C (p.Asn686Thr) | |
7 | g.107710099A>G | CA4433054 | SLC26A4 | c.2135A>G (p.Asn712Ser) c.791A>G n.377-56A>G c.2057A>G (p.Asn686Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710099A>T | CA368845682 | SLC26A4 | c.2135A>T (p.Asn712Ile) c.791A>T n.377-56A>T c.2057A>T (p.Asn686Ile) | |
7 | g.107710100C>A | CA368845689 | SLC26A4 | c.2136C>A (p.Asn712Lys) c.792C>A n.377-55C>A c.2058C>A (p.Asn686Lys) | |
7 | g.107710100C>G | CA368845699 | SLC26A4 | c.2136C>G (p.Asn712Lys) c.792C>G n.377-55C>G c.2058C>G (p.Asn686Lys) | |
7 | g.107710100C>T | CA457104588 | SLC26A4 | c.2136C>T (p.Asn712=) c.792C>T n.377-55C>T c.2058C>T (p.Asn686=) | dbSNP |
7 | g.107710101del | CA2695208260 | SLC26A4 | c.2137del (p.Ile713LeufsTer8) c.793del n.377-54del c.2059del (p.Ile687LeufsTer8) | |
7 | g.107710101A= | CA1732751273 | SLC26A4 | c.2137A= (p.Ile713=) c.793A= n.377-54A= c.2059A= (p.Ile687=) | |
7 | g.107710101A>C | CA368845700 | SLC26A4 | c.2137A>C (p.Ile713Leu) c.793A>C n.377-54A>C c.2059A>C (p.Ile687Leu) | |
7 | g.107710101A>G | CA4433055 | SLC26A4 | c.2137A>G (p.Ile713Val) c.793A>G n.377-54A>G c.2059A>G (p.Ile687Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710101A>T | CA368845708 | SLC26A4 | c.2137A>T (p.Ile713Phe) c.793A>T n.377-54A>T c.2059A>T (p.Ile687Phe) | |
7 | g.107710102T>A | CA368845710 | SLC26A4 | c.2138T>A (p.Ile713Asn) c.794T>A n.377-53T>A c.2060T>A (p.Ile687Asn) | |
7 | g.107710102T>C | CA368845713 | SLC26A4 | c.2138T>C (p.Ile713Thr) c.794T>C n.377-53T>C c.2060T>C (p.Ile687Thr) | |
7 | g.107710102T>G | CA4433056 | SLC26A4 | c.2138T>G (p.Ile713Ser) c.794T>G n.377-53T>G c.2060T>G (p.Ile687Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710102T= | CA1732751279 | SLC26A4 | c.2138T= (p.Ile713=) c.794T= n.377-53T= c.2060T= (p.Ile687=) | |
7 | g.107710103del | CA2499218644 | SLC26A4 | c.2139del (p.Arg714GlufsTer7) c.795del n.377-52del c.2061del (p.Arg688GlufsTer7) | ClinVar dbSNP |
7 | g.107710103T>A | CA457104589 | SLC26A4 | c.2139T>A (p.Ile713=) c.795T>A n.377-52T>A c.2061T>A (p.Ile687=) | gnomAD v4 |
7 | g.107710103T>C | CA457104590 | SLC26A4 | c.2139T>C (p.Ile713=) c.795T>C n.377-52T>C c.2061T>C (p.Ile687=) | |
7 | g.107710103T>G | CA132705 | SLC26A4 | c.2139T>G (p.Ile713Met) c.795T>G n.377-52T>G c.2061T>G (p.Ile687Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710103T= | CA1732751283 | SLC26A4 | c.2139T= (p.Ile713=) c.795T= n.377-52T= c.2061T= (p.Ile687=) | |
7 | g.107710104A>C | CA457104591 | SLC26A4 | c.2140A>C (p.Arg714=) c.796A>C n.377-51A>C c.2062A>C (p.Arg688=) | |
7 | g.107710104A>G | CA368845721 | SLC26A4 | c.2140A>G (p.Arg714Gly) c.796A>G n.377-51A>G c.2062A>G (p.Arg688Gly) | |
7 | g.107710104A>T | CA368845723 | SLC26A4 | c.2140A>T (p.Arg714Ter) c.796A>T n.377-51A>T c.2062A>T (p.Arg688Ter) | |
7 | g.107710105G>A | CA368845737 | SLC26A4 | c.2141G>A (p.Arg714Lys) c.797G>A n.377-50G>A c.2063G>A (p.Arg688Lys) | |
7 | g.107710105G>C | CA368845741 | SLC26A4 | c.2141G>C (p.Arg714Thr) c.797G>C n.377-50G>C c.2063G>C (p.Arg688Thr) | |
7 | g.107710105G>T | CA368845732 | SLC26A4 | c.2141G>T (p.Arg714Ile) c.797G>T n.377-50G>T c.2063G>T (p.Arg688Ile) | |
7 | g.107710106A>C | CA368845744 | SLC26A4 | c.2142A>C (p.Arg714Ser) c.798A>C n.377-49A>C c.2064A>C (p.Arg688Ser) | |
7 | g.107710106A>G | CA457104592 | SLC26A4 | c.2142A>G (p.Arg714=) c.798A>G n.377-49A>G c.2064A>G (p.Arg688=) | |
7 | g.107710106A>T | CA368845747 | SLC26A4 | c.2142A>T (p.Arg714Ser) c.798A>T n.377-49A>T c.2064A>T (p.Arg688Ser) | |
7 | g.107710107A>C | CA368845749 | SLC26A4 | c.2143A>C (p.Lys715Gln) c.799A>C n.377-48A>C c.2065A>C (p.Lys689Gln) | |
7 | g.107710107A>G | CA368845753 | SLC26A4 | c.2143A>G (p.Lys715Glu) c.799A>G n.377-48A>G c.2065A>G (p.Lys689Glu) | |
7 | g.107710107A>T | CA368845754 | SLC26A4 | c.2143A>T (p.Lys715Ter) c.799A>T n.377-48A>T c.2065A>T (p.Lys689Ter) | |
7 | g.107710108A= | CA1732751288 | SLC26A4 | c.2144A= (p.Lys715=) c.800A= n.377-47A= c.2066A= (p.Lys689=) | |
7 | g.107710108A>C | CA368845759 | SLC26A4 | c.2144A>C (p.Lys715Thr) c.800A>C n.377-47A>C c.2066A>C (p.Lys689Thr) | |
7 | g.107710108A>G | CA368845755 | SLC26A4 | c.2144A>G (p.Lys715Arg) c.800A>G n.377-47A>G c.2066A>G (p.Lys689Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710108A>T | CA368845757 | SLC26A4 | c.2144A>T (p.Lys715Met) c.800A>T n.377-47A>T c.2066A>T (p.Lys689Met) | |
7 | g.107710109G>A | CA457104593 | SLC26A4 | c.2145G>A (p.Lys715=) c.801G>A n.377-46G>A c.2067G>A (p.Lys689=) | gnomAD v4 |
7 | g.107710109G>C | CA368845764 | SLC26A4 | c.2145G>C (p.Lys715Asn) c.801G>C n.377-46G>C c.2067G>C (p.Lys689Asn) | |
7 | g.107710109G= | CA1732751294 | SLC26A4 | c.2145G= (p.Lys715=) c.801G= n.377-46G= c.2067G= (p.Lys689=) | |
7 | g.107710109G>T | CA261425 | SLC26A4 | c.2145G>T (p.Lys715Asn) c.801G>T n.377-46G>T c.2067G>T (p.Lys689Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710110G>A | CA4433057 | SLC26A4 | c.2146G>A (p.Asp716Asn) c.802G>A n.377-45G>A c.2068G>A (p.Asp690Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710110G>C | CA368845765 | SLC26A4 | c.2146G>C (p.Asp716His) c.802G>C n.377-45G>C c.2068G>C (p.Asp690His) | |
7 | g.107710110G= | CA1732751298 | SLC26A4 | c.2146G= (p.Asp716=) c.802G= n.377-45G= c.2068G= (p.Asp690=) | |
7 | g.107710110G>T | CA368845766 | SLC26A4 | c.2146G>T (p.Asp716Tyr) c.802G>T n.377-45G>T c.2068G>T (p.Asp690Tyr) | |
7 | g.107710111A= | CA1732751301 | SLC26A4 | c.2147A= (p.Asp716=) c.803A= n.377-44A= c.2069A= (p.Asp690=) | |
7 | g.107710111A>C | CA368845773 | SLC26A4 | c.2147A>C (p.Asp716Ala) c.803A>C n.377-44A>C c.2069A>C (p.Asp690Ala) | |
7 | g.107710111A>G | CA368845772 | SLC26A4 | c.2147A>G (p.Asp716Gly) c.803A>G n.377-44A>G c.2069A>G (p.Asp690Gly) | dbSNP gnomAD v4 |
7 | g.107710111A>T | CA368845769 | SLC26A4 | c.2147A>T (p.Asp716Val) c.803A>T n.377-44A>T c.2069A>T (p.Asp690Val) | |
7 | g.107710112C>A | CA368845775 | SLC26A4 | c.2148C>A (p.Asp716Glu) c.804C>A n.377-43C>A c.2070C>A (p.Asp690Glu) | |
7 | g.107710112C>G | CA368845777 | SLC26A4 | c.2148C>G (p.Asp716Glu) c.804C>G n.377-43C>G c.2070C>G (p.Asp690Glu) | |
7 | g.107710112C>T | CA457104594 | SLC26A4 | c.2148C>T (p.Asp716=) c.804C>T n.377-43C>T c.2070C>T (p.Asp690=) | ClinVar |
7 | g.107710113A>C | CA368845782 | SLC26A4 | c.2149A>C (p.Thr717Pro) c.805A>C n.377-42A>C c.2071A>C (p.Thr691Pro) | |
7 | g.107710113A>G | CA368845783 | SLC26A4 | c.2149A>G (p.Thr717Ala) c.805A>G n.377-42A>G c.2071A>G (p.Thr691Ala) | |
7 | g.107710113A>T | CA368845784 | SLC26A4 | c.2149A>T (p.Thr717Ser) c.805A>T n.377-42A>T c.2071A>T (p.Thr691Ser) | |
7 | g.107710114C>A | CA368845786 | SLC26A4 | c.2150C>A (p.Thr717Lys) c.806C>A n.377-41C>A c.2072C>A (p.Thr691Lys) | gnomAD v4 |
7 | g.107710114C= | CA1732751303 | SLC26A4 | c.2150C= (p.Thr717=) c.806C= n.377-41C= c.2072C= (p.Thr691=) | |
7 | g.107710114C>G | CA4433058 | SLC26A4 | c.2150C>G (p.Thr717Arg) c.806C>G n.377-41C>G c.2072C>G (p.Thr691Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710114C>T | CA368845787 | SLC26A4 | c.2150C>T (p.Thr717Ile) c.806C>T n.377-41C>T c.2072C>T (p.Thr691Ile) | ClinVar gnomAD v4 COSMIC |
7 | g.107710115A= | CA1732751306 | SLC26A4 | c.2151A= (p.Thr717=) c.807A= n.377-40A= c.2073A= (p.Thr691=) | |
7 | g.107710115A>C | CA4433059 | SLC26A4 | c.2151A>C (p.Thr717=) c.807A>C n.377-40A>C c.2073A>C (p.Thr691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710115A>G | CA457104595 | SLC26A4 | c.2151A>G (p.Thr717=) c.807A>G n.377-40A>G c.2073A>G (p.Thr691=) | |
7 | g.107710115A>T | CA457104596 | SLC26A4 | c.2151A>T (p.Thr717=) c.807A>T n.377-40A>T c.2073A>T (p.Thr691=) | |
7 | g.107710116T>A | CA368845789 | SLC26A4 | c.2152T>A (p.Phe718Ile) c.808T>A n.377-39T>A c.2074T>A (p.Phe692Ile) | |
7 | g.107710116T>C | CA368845792 | SLC26A4 | c.2152T>C (p.Phe718Leu) c.808T>C n.377-39T>C c.2074T>C (p.Phe692Leu) | |
7 | g.107710116T>G | CA368845796 | SLC26A4 | c.2152T>G (p.Phe718Val) c.808T>G n.377-39T>G c.2074T>G (p.Phe692Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710116T= | CA1732751309 | SLC26A4 | c.2152T= (p.Phe718=) c.808T= n.377-39T= c.2074T= (p.Phe692=) | |
7 | g.107710117T>A | CA368845798 | SLC26A4 | c.2153T>A (p.Phe718Tyr) c.809T>A n.377-38T>A c.2075T>A (p.Phe692Tyr) | dbSNP |
7 | g.107710117T>C | CA4433060 | SLC26A4 | c.2153T>C (p.Phe718Ser) c.809T>C n.377-38T>C c.2075T>C (p.Phe692Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710117T>G | CA368845800 | SLC26A4 | c.2153T>G (p.Phe718Cys) c.809T>G n.377-38T>G c.2075T>G (p.Phe692Cys) | |
7 | g.107710117T= | CA1732751315 | SLC26A4 | c.2153T= (p.Phe718=) c.809T= n.377-38T= c.2075T= (p.Phe692=) | |
7 | g.107710118C>A | CA368845801 | SLC26A4 | c.2154C>A (p.Phe718Leu) c.810C>A n.377-37C>A c.2076C>A (p.Phe692Leu) | |
7 | g.107710118C= | CA1732751318 | SLC26A4 | c.2154C= (p.Phe718=) c.810C= n.377-37C= c.2076C= (p.Phe692=) | |
7 | g.107710118C>G | CA164228083 | SLC26A4 | c.2154C>G (p.Phe718Leu) c.810C>G n.377-37C>G c.2076C>G (p.Phe692Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710118C>T | CA457104597 | SLC26A4 | c.2154C>T (p.Phe718=) c.810C>T n.377-37C>T c.2076C>T (p.Phe692=) | |
7 | g.107710119T>A | CA368845802 | SLC26A4 | c.2155T>A (p.Phe719Ile) c.811T>A n.377-36T>A c.2077T>A (p.Phe693Ile) | |
7 | g.107710119T>C | CA368845804 | SLC26A4 | c.2155T>C (p.Phe719Leu) c.811T>C n.377-36T>C c.2077T>C (p.Phe693Leu) | |
7 | g.107710119T>G | CA368845805 | SLC26A4 | c.2155T>G (p.Phe719Val) c.811T>G n.377-36T>G c.2077T>G (p.Phe693Val) | |
7 | g.107710120T>A | CA368845807 | SLC26A4 | c.2156T>A (p.Phe719Tyr) c.812T>A n.377-35T>A c.2078T>A (p.Phe693Tyr) | |
7 | g.107710120T>C | CA368845809 | SLC26A4 | c.2156T>C (p.Phe719Ser) c.812T>C n.377-35T>C c.2078T>C (p.Phe693Ser) | |
7 | g.107710120T>G | CA368845811 | SLC26A4 | c.2156T>G (p.Phe719Cys) c.812T>G n.377-35T>G c.2078T>G (p.Phe693Cys) | COSMIC |
7 | g.107710121T>A | CA368845812 | SLC26A4 | c.2157T>A (p.Phe719Leu) c.813T>A n.377-34T>A c.2079T>A (p.Phe693Leu) | |
7 | g.107710121T>C | CA457104599 | SLC26A4 | c.2157T>C (p.Phe719=) c.813T>C n.377-34T>C c.2079T>C (p.Phe693=) | |
7 | g.107710121T>G | CA368845814 | SLC26A4 | c.2157T>G (p.Phe719Leu) c.813T>G n.377-34T>G c.2079T>G (p.Phe693Leu) | |
7 | g.107710122T>A | CA368845816 | SLC26A4 | c.2158T>A (p.Leu720Met) c.814T>A n.377-33T>A c.2080T>A (p.Leu694Met) | |
7 | g.107710122T>C | CA457104600 | SLC26A4 | c.2158T>C (p.Leu720=) c.814T>C n.377-33T>C c.2080T>C (p.Leu694=) | |
7 | g.107710122T>G | CA368845819 | SLC26A4 | c.2158T>G (p.Leu720Val) c.814T>G n.377-33T>G c.2080T>G (p.Leu694Val) | |
7 | g.107710123T>A | CA368845821 | SLC26A4 | c.2159T>A (p.Leu720Ter) c.815T>A n.377-32T>A c.2081T>A (p.Leu694Ter) | |
7 | g.107710123T>C | CA368845823 | SLC26A4 | c.2159T>C (p.Leu720Ser) c.815T>C n.377-32T>C c.2081T>C (p.Leu694Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710123T>G | CA368845824 | SLC26A4 | c.2159T>G (p.Leu720Trp) c.815T>G n.377-32T>G c.2081T>G (p.Leu694Trp) | |
7 | g.107710123T= | CA1732751322 | SLC26A4 | c.2159T= (p.Leu720=) c.815T= n.377-32T= c.2081T= (p.Leu694=) | |
7 | g.107710124G>A | CA457104601 | SLC26A4 | c.2160G>A (p.Leu720=) c.816G>A n.377-31G>A c.2082G>A (p.Leu694=) | |
7 | g.107710124G>C | CA368845826 | SLC26A4 | c.2160G>C (p.Leu720Phe) c.816G>C n.377-31G>C c.2082G>C (p.Leu694Phe) | |
7 | g.107710124G>T | CA368845828 | SLC26A4 | c.2160G>T (p.Leu720Phe) c.816G>T n.377-31G>T c.2082G>T (p.Leu694Phe) | |
7 | g.107710125A= | CA1732751325 | SLC26A4 | c.2161A= (p.Thr721=) c.817A= n.377-30A= c.2083A= (p.Thr695=) | |
7 | g.107710125A>C | CA368845831 | SLC26A4 | c.2161A>C (p.Thr721Pro) c.817A>C n.377-30A>C c.2083A>C (p.Thr695Pro) | |
7 | g.107710125A>G | CA368845833 | SLC26A4 | c.2161A>G (p.Thr721Ala) c.817A>G n.377-30A>G c.2083A>G (p.Thr695Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107710125A>T | CA368845839 | SLC26A4 | c.2161A>T (p.Thr721Ser) c.817A>T n.377-30A>T c.2083A>T (p.Thr695Ser) | |
7 | g.107710126del | CA2684468644 | SLC26A4 | c.2162del (p.Thr721ArgfsTer13) c.818del n.377-29del c.2084del (p.Thr695ArgfsTer13) | gnomAD v4 |
7 | g.107710126C>A | CA368845842 | SLC26A4 | c.2162C>A (p.Thr721Lys) c.818C>A n.377-29C>A c.2084C>A (p.Thr695Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.107710126C= | CA1732751328 | SLC26A4 | c.2162C= (p.Thr721=) c.818C= n.377-29C= c.2084C= (p.Thr695=) | |
7 | g.107710126C>G | CA368845843 | SLC26A4 | c.2162C>G (p.Thr721Arg) c.818C>G n.377-29C>G c.2084C>G (p.Thr695Arg) | gnomAD v4 |
7 | g.107710126C>T | CA253308 | SLC26A4 | c.2162C>T (p.Thr721Met) c.818C>T n.377-29C>T c.2084C>T (p.Thr695Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710127G>A | CA4433061 | SLC26A4 | c.2163G>A (p.Thr721=) c.819G>A n.377-28G>A c.2085G>A (p.Thr695=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710127G>C | CA4433062 | SLC26A4 | c.2163G>C (p.Thr721=) c.819G>C n.377-28G>C c.2085G>C (p.Thr695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107710127G= | CA1732751333 | SLC26A4 | c.2163G= (p.Thr721=) c.819G= n.377-28G= c.2085G= (p.Thr695=) | |
7 | g.107710127G>T | CA457104602 | SLC26A4 | c.2163G>T (p.Thr721=) c.819G>T n.377-28G>T c.2085G>T (p.Thr695=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710128G>A | CA368845854 | SLC26A4 | c.2164G>A (p.Val722Ile) c.820G>A n.377-27G>A c.2086G>A (p.Val696Ile) | gnomAD v4 |
7 | g.107710128G>C | CA368845855 | SLC26A4 | c.2164G>C (p.Val722Leu) c.820G>C n.377-27G>C c.2086G>C (p.Val696Leu) | |
7 | g.107710128G>T | CA368845856 | SLC26A4 | c.2164G>T (p.Val722Phe) c.820G>T n.377-27G>T c.2086G>T (p.Val696Phe) | |
7 | g.107710129T>A | CA368845858 | SLC26A4 | c.2165T>A (p.Val722Asp) c.821T>A n.377-26T>A c.2087T>A (p.Val696Asp) | |
7 | g.107710129T>C | CA368845861 | SLC26A4 | c.2165T>C (p.Val722Ala) c.821T>C n.377-26T>C c.2087T>C (p.Val696Ala) | COSMIC |
7 | g.107710129T>G | CA4433063 | SLC26A4 | c.2165T>G (p.Val722Gly) c.821T>G n.377-26T>G c.2087T>G (p.Val696Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107710129T= | CA1732751337 | SLC26A4 | c.2165T= (p.Val722=) c.821T= n.377-26T= c.2087T= (p.Val696=) | |
7 | g.107710130C>A | CA457104603 | SLC26A4 | c.2166C>A (p.Val722=) c.822C>A n.377-25C>A c.2088C>A (p.Val696=) | gnomAD v4 |
7 | g.107710130C>G | CA457104604 | SLC26A4 | c.2166C>G (p.Val722=) c.822C>G n.377-25C>G c.2088C>G (p.Val696=) | ClinVar dbSNP |
7 | g.107710130C>T | CA457104605 | SLC26A4 | c.2166C>T (p.Val722=) c.822C>T n.377-25C>T c.2088C>T (p.Val696=) | gnomAD v4 COSMIC |
7 | g.107710131C>A | CA368845866 | SLC26A4 | c.2167C>A (p.His723Asn) c.823C>A n.377-24C>A c.2089C>A (p.His697Asn) | gnomAD v4 |
7 | g.107710131C= | CA1732751339 | SLC26A4 | c.2167C= (p.His723=) c.823C= n.377-24C= c.2089C= (p.His697=) | |
7 | g.107710131C>G | CA368845871 | SLC26A4 | c.2167C>G (p.His723Asp) c.823C>G n.377-24C>G c.2089C>G (p.His697Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710131C>T | CA368845869 | SLC26A4 | c.2167C>T (p.His723Tyr) c.823C>T n.377-24C>T c.2089C>T (p.His697Tyr) | |
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]) | |
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) | |
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=) |