Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107661694_107661699del | CA658821332 | SLC26A4,SLC26A4-AS1 | c.53_58del (p.Cys18_Ser19del) n.105_110del | ClinVar dbSNP |
7 | g.107661699T>A | CA368844858 | SLC26A4,SLC26A4-AS1 | c.58T>A (p.Tyr20Asn) n.100A>T | gnomAD v4 |
7 | g.107661699T>C | CA368844863 | SLC26A4,SLC26A4-AS1 | c.58T>C (p.Tyr20His) n.100A>G | gnomAD v4 |
7 | g.107661699T>G | CA368844865 | SLC26A4,SLC26A4-AS1 | c.58T>G (p.Tyr20Asp) n.100A>C | |
7 | g.107661700A>C | CA368844874 | SLC26A4,SLC26A4-AS1 | c.59A>C (p.Tyr20Ser) n.99T>G | |
7 | g.107661700A>G | CA368844876 | SLC26A4,SLC26A4-AS1 | c.59A>G (p.Tyr20Cys) n.99T>C | |
7 | g.107661700A>T | CA368844872 | SLC26A4,SLC26A4-AS1 | c.59A>T (p.Tyr20Phe) n.99T>A | gnomAD v4 |
7 | g.107661701C>A | CA368844877 | SLC26A4,SLC26A4-AS1 | c.60C>A (p.Tyr20Ter) n.98G>T | gnomAD v4 |
7 | g.107661701C>G | CA368844879 | SLC26A4,SLC26A4-AS1 | c.60C>G (p.Tyr20Ter) n.98G>C | |
7 | g.107661701C>T | CA457104143 | SLC26A4,SLC26A4-AS1 | c.60C>T (p.Tyr20=) n.98G>A | gnomAD v4 COSMIC |
7 | g.107661702A= | CA1732727162 | SLC26A4,SLC26A4-AS1 | c.61A= (p.Met21=) n.97T= | |
7 | g.107661702A>C | CA368844886 | SLC26A4,SLC26A4-AS1 | c.61A>C (p.Met21Leu) n.97T>G | |
7 | g.107661702A>G | CA4432355 | SLC26A4,SLC26A4-AS1 | c.61A>G (p.Met21Val) n.97T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661702A>T | CA368844895 | SLC26A4,SLC26A4-AS1 | c.61A>T (p.Met21Leu) n.97T>A | gnomAD v4 |
7 | g.107661702dup | CA2684465723 | SLC26A4,SLC26A4-AS1 | c.61dup (p.Met21AsnfsTer?) n.97dup | gnomAD v4 |
7 | g.107661703del | CA2578988535 | SLC26A4,SLC26A4-AS1 | c.62del (p.Met21ArgfsTer?) n.96del | |
7 | g.107661703T>A | CA368844905 | SLC26A4,SLC26A4-AS1 | c.62T>A (p.Met21Lys) n.96A>T | gnomAD v4 |
7 | g.107661703T>C | CA368844900 | SLC26A4,SLC26A4-AS1 | c.62T>C (p.Met21Thr) n.96A>G | gnomAD v4 |
7 | g.107661703T>G | CA368844902 | SLC26A4,SLC26A4-AS1 | c.62T>G (p.Met21Arg) n.96A>C | gnomAD v4 |
7 | g.107661704G>A | CA368844907 | SLC26A4,SLC26A4-AS1 | c.63G>A (p.Met21Ile) n.95C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661704G>C | CA368844908 | SLC26A4,SLC26A4-AS1 | c.63G>C (p.Met21Ile) n.95C>G | |
7 | g.107661704G= | CA1732727165 | SLC26A4,SLC26A4-AS1 | c.63G= (p.Met21=) n.95C= | |
7 | g.107661704G>T | CA368844909 | SLC26A4,SLC26A4-AS1 | c.63G>T (p.Met21Ile) n.95C>A | gnomAD v4 |
7 | g.107661705G>A | CA368844912 | SLC26A4,SLC26A4-AS1 | c.64G>A (p.Val22Met) n.94C>T | gnomAD v4 |
7 | g.107661705G>C | CA368844916 | SLC26A4,SLC26A4-AS1 | c.64G>C (p.Val22Leu) n.94C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661705G= | CA1732727167 | SLC26A4,SLC26A4-AS1 | c.64G= (p.Val22=) n.94C= | |
7 | g.107661705G>T | CA368844919 | SLC26A4,SLC26A4-AS1 | c.64G>T (p.Val22Leu) n.94C>A | gnomAD v4 |
7 | g.107661706T>A | CA368844927 | SLC26A4,SLC26A4-AS1 | c.65T>A (p.Val22Glu) n.93A>T | gnomAD v4 |
7 | g.107661706T>C | CA368844929 | SLC26A4,SLC26A4-AS1 | c.65T>C (p.Val22Ala) n.93A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661706T>G | CA368844926 | SLC26A4,SLC26A4-AS1 | c.65T>G (p.Val22Gly) n.93A>C | |
7 | g.107661706T= | CA1732727169 | SLC26A4,SLC26A4-AS1 | c.65T= (p.Val22=) n.93A= | |
7 | g.107661706dup | CA2695208240 | SLC26A4,SLC26A4-AS1 | c.65dup (p.Ser23ValfsTer?) n.93dup | |
7 | g.107661707G>A | CA457104148 | SLC26A4,SLC26A4-AS1 | c.66G>A (p.Val22=) n.92C>T | ClinVar gnomAD v4 |
7 | g.107661707G>C | CA457104149 | SLC26A4,SLC26A4-AS1 | c.66G>C (p.Val22=) n.92C>G | |
7 | g.107661707G= | CA1732727171 | SLC26A4,SLC26A4-AS1 | c.66G= (p.Val22=) n.92C= | |
7 | g.107661707G>T | CA4432356 | SLC26A4,SLC26A4-AS1 | c.66G>T (p.Val22=) n.92C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661708T>A | CA368844935 | SLC26A4,SLC26A4-AS1 | c.67T>A (p.Ser23Thr) n.91A>T | |
7 | g.107661708T>C | CA368844939 | SLC26A4,SLC26A4-AS1 | c.67T>C (p.Ser23Pro) n.91A>G | gnomAD v4 |
7 | g.107661708T>G | CA368844938 | SLC26A4,SLC26A4-AS1 | c.67T>G (p.Ser23Ala) n.91A>C | |
7 | g.107661709C>A | CA261435 | SLC26A4,SLC26A4-AS1 | c.68C>A (p.Ser23Ter) n.90G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661709C= | CA1732727173 | SLC26A4,SLC26A4-AS1 | c.68C= (p.Ser23=) n.90G= | |
7 | g.107661709C>G | CA368844942 | SLC26A4,SLC26A4-AS1 | c.68C>G (p.Ser23Trp) n.90G>C | |
7 | g.107661709C>T | CA164207224 | SLC26A4,SLC26A4-AS1 | c.68C>T (p.Ser23Leu) n.90G>A | dbSNP gnomAD v4 |
7 | g.107661710G>A | CA457104158 | SLC26A4,SLC26A4-AS1 | c.69G>A (p.Ser23=) n.89C>T | gnomAD v3 gnomAD v4 |
7 | g.107661710G>C | CA457104159 | SLC26A4,SLC26A4-AS1 | c.69G>C (p.Ser23=) n.89C>G | gnomAD v4 |
7 | g.107661710G= | CA1732727177 | SLC26A4,SLC26A4-AS1 | c.69G= (p.Ser23=) n.89C= | |
7 | g.107661710G>T | CA4432357 | SLC26A4,SLC26A4-AS1 | c.69G>T (p.Ser23=) n.89C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661711C>A | CA457104160 | SLC26A4,SLC26A4-AS1 | c.70C>A (p.Arg24=) n.88G>T | gnomAD v4 |
7 | g.107661711C= | CA1732727180 | SLC26A4,SLC26A4-AS1 | c.70C= (p.Arg24=) n.88G= | |
7 | g.107661711C>G | CA368844943 | SLC26A4,SLC26A4-AS1 | c.70C>G (p.Arg24Gly) n.88G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661711C>T | CA368844944 | SLC26A4,SLC26A4-AS1 | c.70C>T (p.Arg24Trp) n.88G>A | gnomAD v4 |
7 | g.107661712G>A | CA368844945 | SLC26A4,SLC26A4-AS1 | c.71G>A (p.Arg24Gln) n.87C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661712G>C | CA368844946 | SLC26A4,SLC26A4-AS1 | c.71G>C (p.Arg24Pro) n.87C>G | |
7 | g.107661712G= | CA1732727182 | SLC26A4,SLC26A4-AS1 | c.71G= (p.Arg24=) n.87C= | |
7 | g.107661712G>T | CA368844952 | SLC26A4,SLC26A4-AS1 | c.71G>T (p.Arg24Leu) n.87C>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661713G>A | CA457104161 | SLC26A4,SLC26A4-AS1 | c.72G>A (p.Arg24=) n.86C>T | gnomAD v4 |
7 | g.107661713G>C | CA457104162 | SLC26A4,SLC26A4-AS1 | c.72G>C (p.Arg24=) n.86C>G | |
7 | g.107661713G>T | CA457104165 | SLC26A4,SLC26A4-AS1 | c.72G>T (p.Arg24=) n.86C>A | gnomAD v4 |
7 | g.107661714C>A | CA4432358 | SLC26A4,SLC26A4-AS1 | c.73C>A (p.Pro25Thr) n.85G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661714C= | CA1732727183 | SLC26A4,SLC26A4-AS1 | c.73C= (p.Pro25=) n.85G= | |
7 | g.107661714C>G | CA368844958 | SLC26A4,SLC26A4-AS1 | c.73C>G (p.Pro25Ala) n.85G>C | |
7 | g.107661714C>T | CA4432359 | SLC26A4,SLC26A4-AS1 | c.73C>T (p.Pro25Ser) n.85G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107661715C>A | CA368844966 | SLC26A4,SLC26A4-AS1 | c.74C>A (p.Pro25Gln) n.84G>T | gnomAD v4 |
7 | g.107661715C= | CA1732727185 | SLC26A4,SLC26A4-AS1 | c.74C= (p.Pro25=) n.84G= | |
7 | g.107661715C>G | CA164207235 | SLC26A4,SLC26A4-AS1 | c.74C>G (p.Pro25Arg) n.84G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661715C>T | CA4432360 | SLC26A4,SLC26A4-AS1 | c.74C>T (p.Pro25Leu) n.84G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661716G>A | CA457104168 | SLC26A4,SLC26A4-AS1 | c.75G>A (p.Pro25=) n.83C>T | gnomAD v4 |
7 | g.107661716G>C | CA164207241 | SLC26A4,SLC26A4-AS1 | c.75G>C (p.Pro25=) n.83C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661716G= | CA1732727188 | SLC26A4,SLC26A4-AS1 | c.75G= (p.Pro25=) n.83C= | |
7 | g.107661716G>T | CA4432361 | SLC26A4,SLC26A4-AS1 | c.75G>T (p.Pro25=) n.83C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661717dup | CA2580076145 | SLC26A4,SLC26A4-AS1 | c.76dup (p.Val26GlyfsTer?) n.83dup | ClinVar gnomAD v4 |
7 | g.107661717G>A | CA368844969 | SLC26A4,SLC26A4-AS1 | c.76G>A (p.Val26Ile) n.82C>T | dbSNP gnomAD v4 |
7 | g.107661717G>C | CA368844971 | SLC26A4,SLC26A4-AS1 | c.76G>C (p.Val26Leu) n.82C>G | gnomAD v4 |
7 | g.107661717G= | CA1732727191 | SLC26A4,SLC26A4-AS1 | c.76G= (p.Val26=) n.82C= | |
7 | g.107661717G>T | CA368844972 | SLC26A4,SLC26A4-AS1 | c.76G>T (p.Val26Phe) n.82C>A | gnomAD v4 |
7 | g.107661718T>A | CA368844978 | SLC26A4,SLC26A4-AS1 | c.77T>A (p.Val26Asp) n.81A>T | |
7 | g.107661718T>C | CA368844975 | SLC26A4,SLC26A4-AS1 | c.77T>C (p.Val26Ala) n.81A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661718T>G | CA368844976 | SLC26A4,SLC26A4-AS1 | c.77T>G (p.Val26Gly) n.81A>C | |
7 | g.107661718T= | CA1732727193 | SLC26A4,SLC26A4-AS1 | c.77T= (p.Val26=) n.81A= | |
7 | g.107661719_107661720del | CA2580076146 | SLC26A4,SLC26A4-AS1 | c.78_79del (p.Tyr27GlnfsTer?) n.80_81del | ClinVar |
7 | g.107661719C>A | CA457104170 | SLC26A4,SLC26A4-AS1 | c.78C>A (p.Val26=) n.80G>T | gnomAD v4 |
7 | g.107661719C>G | CA457104173 | SLC26A4,SLC26A4-AS1 | c.78C>G (p.Val26=) n.80G>C | |
7 | g.107661719C>T | CA457104174 | SLC26A4,SLC26A4-AS1 | c.78C>T (p.Val26=) n.80G>A | gnomAD v4 |
7 | g.107661720T>A | CA368844980 | SLC26A4,SLC26A4-AS1 | c.79T>A (p.Tyr27Asn) n.79A>T | |
7 | g.107661720T>C | CA368844981 | SLC26A4,SLC26A4-AS1 | c.79T>C (p.Tyr27His) n.79A>G | ClinVar dbSNP gnomAD v4 |
7 | g.107661720T>G | CA368844982 | SLC26A4,SLC26A4-AS1 | c.79T>G (p.Tyr27Asp) n.79A>C | |
7 | g.107661721A>C | CA368844983 | SLC26A4,SLC26A4-AS1 | c.80A>C (p.Tyr27Ser) n.78T>G | |
7 | g.107661721A>G | CA368844984 | SLC26A4,SLC26A4-AS1 | c.80A>G (p.Tyr27Cys) n.78T>C | gnomAD v4 |
7 | g.107661721A>T | CA368844986 | SLC26A4,SLC26A4-AS1 | c.80A>T (p.Tyr27Phe) n.78T>A | |
7 | g.107661721_107661723dup | CA2684465726 | SLC26A4,SLC26A4-AS1 | c.80_82dup (p.Tyr27_Ser28insAsn) n.76_78dup | gnomAD v4 |
7 | g.107661722C>A | CA164207247 | SLC26A4,SLC26A4-AS1 | c.81C>A (p.Tyr27Ter) n.77G>T | dbSNP gnomAD v4 |
7 | g.107661722C= | CA1732727195 | SLC26A4,SLC26A4-AS1 | c.81C= (p.Tyr27=) n.77G= | |
7 | g.107661722C>G | CA368844989 | SLC26A4,SLC26A4-AS1 | c.81C>G (p.Tyr27Ter) n.77G>C | |
7 | g.107661722C>T | CA457104176 | SLC26A4,SLC26A4-AS1 | c.81C>T (p.Tyr27=) n.77G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661723A= | CA1732727198 | SLC26A4,SLC26A4-AS1 | c.82A= (p.Ser28=) n.76T= | |
7 | g.107661723A>C | CA368844990 | SLC26A4,SLC26A4-AS1 | c.82A>C (p.Ser28Arg) n.76T>G | gnomAD v4 |
7 | g.107661723A>G | CA368844992 | SLC26A4,SLC26A4-AS1 | c.82A>G (p.Ser28Gly) n.76T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661723A>T | CA368844993 | SLC26A4,SLC26A4-AS1 | c.82A>T (p.Ser28Cys) n.76T>A | |
7 | g.107661724G>A | CA368844994 | SLC26A4,SLC26A4-AS1 | c.83G>A (p.Ser28Asn) n.75C>T | gnomAD v4 |
7 | g.107661724G>C | CA368844996 | SLC26A4,SLC26A4-AS1 | c.83G>C (p.Ser28Thr) n.75C>G | |
7 | g.107661724G>T | CA368844997 | SLC26A4,SLC26A4-AS1 | c.83G>T (p.Ser28Ile) n.75C>A | gnomAD v4 |
7 | g.107661725C>A | CA274233 | SLC26A4,SLC26A4-AS1 | c.84C>A (p.Ser28Arg) n.74G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661725C= | CA1732727201 | SLC26A4,SLC26A4-AS1 | c.84C= (p.Ser28=) n.74G= | |
7 | g.107661725C>G | CA164207259 | SLC26A4,SLC26A4-AS1 | c.84C>G (p.Ser28Arg) n.74G>C | ClinVar dbSNP gnomAD v4 |
7 | g.107661725C>T | CA457104180 | SLC26A4,SLC26A4-AS1 | c.84C>T (p.Ser28=) n.74G>A | gnomAD v4 |
7 | g.107661726G>A | CA368845001 | SLC26A4,SLC26A4-AS1 | c.85G>A (p.Glu29Lys) n.73C>T | gnomAD v4 |
7 | g.107661726G>C | CA253315 | SLC26A4,SLC26A4-AS1 | c.85G>C (p.Glu29Gln) n.73C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661726G= | CA1732727208 | SLC26A4,SLC26A4-AS1 | c.85G= (p.Glu29=) n.73C= | |
7 | g.107661726G>T | CA261442 | SLC26A4,SLC26A4-AS1 | c.85G>T (p.Glu29Ter) n.73C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661727A= | CA1732727212 | SLC26A4,SLC26A4-AS1 | c.86A= (p.Glu29=) n.72T= | |
7 | g.107661727A>C | CA368845004 | SLC26A4,SLC26A4-AS1 | c.86A>C (p.Glu29Ala) n.72T>G | |
7 | g.107661727A>G | CA368845005 | SLC26A4,SLC26A4-AS1 | c.86A>G (p.Glu29Gly) n.72T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661727A>T | CA368845007 | SLC26A4,SLC26A4-AS1 | c.86A>T (p.Glu29Val) n.72T>A | |
7 | g.107661728G>A | CA457104183 | SLC26A4,SLC26A4-AS1 | c.87G>A (p.Glu29=) n.71C>T | gnomAD v4 |
7 | g.107661728G>C | CA368845011 | SLC26A4,SLC26A4-AS1 | c.87G>C (p.Glu29Asp) n.71C>G | ClinVar dbSNP |
7 | g.107661728G= | CA1732727216 | SLC26A4,SLC26A4-AS1 | c.87G= (p.Glu29=) n.71C= | |
7 | g.107661728G>T | CA368845010 | SLC26A4,SLC26A4-AS1 | c.87G>T (p.Glu29Asp) n.71C>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661729C>A | CA368845013 | SLC26A4,SLC26A4-AS1 | c.88C>A (p.Leu30Ile) n.70G>T | gnomAD v4 |
7 | g.107661729C= | CA1732727221 | SLC26A4,SLC26A4-AS1 | c.88C= (p.Leu30=) n.70G= | |
7 | g.107661729C>G | CA368845015 | SLC26A4,SLC26A4-AS1 | c.88C>G (p.Leu30Val) n.70G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661729C>T | CA368845017 | SLC26A4,SLC26A4-AS1 | c.88C>T (p.Leu30Phe) n.70G>A | gnomAD v4 |
7 | g.107661730T>A | CA368845019 | SLC26A4,SLC26A4-AS1 | c.89T>A (p.Leu30His) n.69A>T | |
7 | g.107661730T>C | CA164207275 | SLC26A4,SLC26A4-AS1 | c.89T>C (p.Leu30Pro) n.69A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661730T>G | CA368845022 | SLC26A4,SLC26A4-AS1 | c.89T>G (p.Leu30Arg) n.69A>C | |
7 | g.107661730T= | CA1732727225 | SLC26A4,SLC26A4-AS1 | c.89T= (p.Leu30=) n.69A= | |
7 | g.107661731C>A | CA457104184 | SLC26A4,SLC26A4-AS1 | c.90C>A (p.Leu30=) n.68G>T | gnomAD v4 |
7 | g.107661731C= | CA1732727230 | SLC26A4,SLC26A4-AS1 | c.90C= (p.Leu30=) n.68G= | |
7 | g.107661731C>G | CA4432362 | SLC26A4,SLC26A4-AS1 | c.90C>G (p.Leu30=) n.68G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661731C>T | CA457104185 | SLC26A4,SLC26A4-AS1 | c.90C>T (p.Leu30=) n.68G>A | gnomAD v4 |
7 | g.107661732G>A | CA368845025 | SLC26A4,SLC26A4-AS1 | c.91G>A (p.Ala31Thr) n.67C>T | gnomAD v4 COSMIC |
7 | g.107661732G>C | CA368845027 | SLC26A4,SLC26A4-AS1 | c.91G>C (p.Ala31Pro) n.67C>G | |
7 | g.107661732G= | CA1732727235 | SLC26A4,SLC26A4-AS1 | c.91G= (p.Ala31=) n.67C= | |
7 | g.107661732G>T | CA368845028 | SLC26A4,SLC26A4-AS1 | c.91G>T (p.Ala31Ser) n.67C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661733C>A | CA368845031 | SLC26A4,SLC26A4-AS1 | c.92C>A (p.Ala31Asp) n.66G>T | gnomAD v4 |
7 | g.107661733C>G | CA368845032 | SLC26A4,SLC26A4-AS1 | c.92C>G (p.Ala31Gly) n.66G>C | gnomAD v4 |
7 | g.107661733C>T | CA368845034 | SLC26A4,SLC26A4-AS1 | c.92C>T (p.Ala31Val) n.66G>A | gnomAD v4 |
7 | g.107661734T>A | CA457104187 | SLC26A4,SLC26A4-AS1 | c.93T>A (p.Ala31=) n.65A>T | |
7 | g.107661734T>C | CA457104188 | SLC26A4,SLC26A4-AS1 | c.93T>C (p.Ala31=) n.65A>G | ClinVar |
7 | g.107661734T>G | CA457104189 | SLC26A4,SLC26A4-AS1 | c.93T>G (p.Ala31=) n.65A>C | |
7 | g.107661735T>A | CA368845036 | SLC26A4,SLC26A4-AS1 | c.94T>A (p.Phe32Ile) n.64A>T | |
7 | g.107661735T>C | CA368845039 | SLC26A4,SLC26A4-AS1 | c.94T>C (p.Phe32Leu) n.64A>G | gnomAD v4 |
7 | g.107661735T>G | CA368845037 | SLC26A4,SLC26A4-AS1 | c.94T>G (p.Phe32Val) n.64A>C | dbSNP |
7 | g.107661735T= | CA1732727237 | SLC26A4,SLC26A4-AS1 | c.94T= (p.Phe32=) n.64A= | |
7 | g.107661736T>A | CA368845041 | SLC26A4,SLC26A4-AS1 | c.95T>A (p.Phe32Tyr) n.63A>T | |
7 | g.107661736T>C | CA368845043 | SLC26A4,SLC26A4-AS1 | c.95T>C (p.Phe32Ser) n.63A>G | |
7 | g.107661736T>G | CA368845045 | SLC26A4,SLC26A4-AS1 | c.95T>G (p.Phe32Cys) n.63A>C | |
7 | g.107661737C>A | CA368845046 | SLC26A4,SLC26A4-AS1 | c.96C>A (p.Phe32Leu) n.62G>T | gnomAD v4 |
7 | g.107661737C>G | CA368845048 | SLC26A4,SLC26A4-AS1 | c.96C>G (p.Phe32Leu) n.62G>C | |
7 | g.107661737C>T | CA457104190 | SLC26A4,SLC26A4-AS1 | c.96C>T (p.Phe32=) n.62G>A | gnomAD v4 |
7 | g.107661738del | CA2684465729 | SLC26A4,SLC26A4-AS1 | c.97del (p.Gln33SerfsTer?) n.62del | gnomAD v4 |
7 | g.107661738C>A | CA368845050 | SLC26A4,SLC26A4-AS1 | c.97C>A (p.Gln33Lys) n.61G>T | gnomAD v4 |
7 | g.107661738C>G | CA368845052 | SLC26A4,SLC26A4-AS1 | c.97C>G (p.Gln33Glu) n.61G>C | |
7 | g.107661738C>T | CA368845053 | SLC26A4,SLC26A4-AS1 | c.97C>T (p.Gln33Ter) n.61G>A | gnomAD v4 |
7 | g.107661739A= | CA1732727239 | SLC26A4,SLC26A4-AS1 | c.98A= (p.Gln33=) n.60T= | |
7 | g.107661739A>C | CA368845055 | SLC26A4,SLC26A4-AS1 | c.98A>C (p.Gln33Pro) n.60T>G | |
7 | g.107661739A>G | CA368845057 | SLC26A4,SLC26A4-AS1 | c.98A>G (p.Gln33Arg) n.60T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661739A>T | CA368845059 | SLC26A4,SLC26A4-AS1 | c.98A>T (p.Gln33Leu) n.60T>A | gnomAD v4 |
7 | g.107661740G>A | CA164207289 | SLC26A4,SLC26A4-AS1 | c.99G>A (p.Gln33=) n.59C>T | ClinVar dbSNP gnomAD v4 |
7 | g.107661740G>C | CA368845060 | SLC26A4,SLC26A4-AS1 | c.99G>C (p.Gln33His) n.59C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661740G= | CA1732727244 | SLC26A4,SLC26A4-AS1 | c.99G= (p.Gln33=) n.59C= | |
7 | g.107661740G>T | CA368845062 | SLC26A4,SLC26A4-AS1 | c.99G>T (p.Gln33His) n.59C>A | gnomAD v4 |
7 | g.107661740_107661741del | CA2580076148 | SLC26A4,SLC26A4-AS1 | c.99_100del (p.Gln34ThrfsTer?) n.58_59del | ClinVar |
7 | g.107661741C>A | CA368845066 | SLC26A4,SLC26A4-AS1 | c.100C>A (p.Gln34Lys) n.58G>T | gnomAD v4 |
7 | g.107661741C= | CA1732727249 | SLC26A4,SLC26A4-AS1 | c.100C= (p.Gln34=) n.58G= | |
7 | g.107661741C>G | CA368845065 | SLC26A4,SLC26A4-AS1 | c.100C>G (p.Gln34Glu) n.58G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661741C>T | CA164207291 | SLC26A4,SLC26A4-AS1 | c.100C>T (p.Gln34Ter) n.58G>A | dbSNP gnomAD v4 |
7 | g.107661742A>C | CA368845068 | SLC26A4,SLC26A4-AS1 | c.101A>C (p.Gln34Pro) n.57T>G | |
7 | g.107661742A>G | CA368845070 | SLC26A4,SLC26A4-AS1 | c.101A>G (p.Gln34Arg) n.57T>C | gnomAD v4 |
7 | g.107661742A>T | CA368845071 | SLC26A4,SLC26A4-AS1 | c.101A>T (p.Gln34Leu) n.57T>A | |
7 | g.107661743A= | CA1732727254 | SLC26A4,SLC26A4-AS1 | c.102A= (p.Gln34=) n.56T= | |
7 | g.107661743A>C | CA368845073 | SLC26A4,SLC26A4-AS1 | c.102A>C (p.Gln34His) n.56T>G | |
7 | g.107661743A>G | CA4432363 | SLC26A4,SLC26A4-AS1 | c.102A>G (p.Gln34=) n.56T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107661743A>T | CA368845076 | SLC26A4,SLC26A4-AS1 | c.102A>T (p.Gln34His) n.56T>A | gnomAD v4 |
7 | g.107661744C>A | CA368845077 | SLC26A4,SLC26A4-AS1 | c.103C>A (p.Gln35Lys) n.55G>T | gnomAD v4 |
7 | g.107661744C= | CA1732727257 | SLC26A4,SLC26A4-AS1 | c.103C= (p.Gln35=) n.55G= | |
7 | g.107661744C>G | CA368845079 | SLC26A4,SLC26A4-AS1 | c.103C>G (p.Gln35Glu) n.55G>C | |
7 | g.107661744C>T | CA368845081 | SLC26A4,SLC26A4-AS1 | c.103C>T (p.Gln35Ter) n.55G>A | dbSNP |
7 | g.107661744_107661745delinsGCTGCT | CA2580076150 | SLC26A4,SLC26A4-AS1 | c.103_104delinsGCTGCT (p.Gln35AlafsTer?) n.54_55delinsAGCAGC | ClinVar |
7 | g.107661745A>C | CA368845083 | SLC26A4,SLC26A4-AS1 | c.104A>C (p.Gln35Pro) n.54T>G | |
7 | g.107661745A>G | CA368845084 | SLC26A4,SLC26A4-AS1 | c.104A>G (p.Gln35Arg) n.54T>C | gnomAD v4 |
7 | g.107661745A>T | CA368845086 | SLC26A4,SLC26A4-AS1 | c.104A>T (p.Gln35Leu) n.54T>A | ClinVar |
7 | g.107661746G>A | CA457104192 | SLC26A4,SLC26A4-AS1 | c.105G>A (p.Gln35=) n.53C>T | ClinVar dbSNP gnomAD v4 |
7 | g.107661746G>C | CA368845088 | SLC26A4,SLC26A4-AS1 | c.105G>C (p.Gln35His) n.53C>G | |
7 | g.107661746G>T | CA368845089 | SLC26A4,SLC26A4-AS1 | c.105G>T (p.Gln35His) n.53C>A | gnomAD v4 |
7 | g.107661747C>A | CA368845095 | SLC26A4,SLC26A4-AS1 | c.106C>A (p.His36Asn) n.52G>T | gnomAD v4 |
7 | g.107661747C>G | CA368845096 | SLC26A4,SLC26A4-AS1 | c.106C>G (p.His36Asp) n.52G>C | |
7 | g.107661747C>T | CA368845091 | SLC26A4,SLC26A4-AS1 | c.106C>T (p.His36Tyr) n.52G>A | gnomAD v4 |
7 | g.107661748A= | CA1732727260 | SLC26A4,SLC26A4-AS1 | c.107A= (p.His36=) n.51T= | |
7 | g.107661748A>C | CA368845097 | SLC26A4,SLC26A4-AS1 | c.107A>C (p.His36Pro) n.51T>G | ClinVar dbSNP |
7 | g.107661748A>G | CA368845098 | SLC26A4,SLC26A4-AS1 | c.107A>G (p.His36Arg) n.51T>C | |
7 | g.107661748A>T | CA368845099 | SLC26A4,SLC26A4-AS1 | c.107A>T (p.His36Leu) n.51T>A | gnomAD v4 |
7 | g.107661749C>A | CA368845100 | SLC26A4,SLC26A4-AS1 | c.108C>A (p.His36Gln) n.50G>T | gnomAD v4 |
7 | g.107661749C= | CA1732727263 | SLC26A4,SLC26A4-AS1 | c.108C= (p.His36=) n.50G= | |
7 | g.107661749C>G | CA164207327 | SLC26A4,SLC26A4-AS1 | c.108C>G (p.His36Gln) n.50G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661749C>T | CA457104194 | SLC26A4,SLC26A4-AS1 | c.108C>T (p.His36=) n.50G>A | gnomAD v4 |
7 | g.107661750G>A | CA368845102 | SLC26A4,SLC26A4-AS1 | c.109G>A (p.Glu37Lys) n.49C>T | gnomAD v4 |
7 | g.107661750G>C | CA4432364 | SLC26A4,SLC26A4-AS1 | c.109G>C (p.Glu37Gln) n.49C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661750G= | CA1732727267 | SLC26A4,SLC26A4-AS1 | c.109G= (p.Glu37=) n.49C= | |
7 | g.107661750G>T | CA368845104 | SLC26A4,SLC26A4-AS1 | c.109G>T (p.Glu37Ter) n.49C>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661755_107661769del | CA2684465732 | SLC26A4,SLC26A4-AS1 | c.114_128del (p.Arg39_Arg43del) n.35_49del | gnomAD v4 |
7 | g.107661751A= | CA1732727273 | SLC26A4,SLC26A4-AS1 | c.110A= (p.Glu37=) n.48T= | |
7 | g.107661751A>C | CA368845106 | SLC26A4,SLC26A4-AS1 | c.110A>C (p.Glu37Ala) n.48T>G | |
7 | g.107661751A>G | CA4432365 | SLC26A4,SLC26A4-AS1 | c.110A>G (p.Glu37Gly) n.48T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107661751A>T | CA368845110 | SLC26A4,SLC26A4-AS1 | c.110A>T (p.Glu37Val) n.48T>A | |
7 | g.107661752G>A | CA4432366 | SLC26A4,SLC26A4-AS1 | c.111G>A (p.Glu37=) n.47C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661752G>C | CA368845113 | SLC26A4,SLC26A4-AS1 | c.111G>C (p.Glu37Asp) n.47C>G | |
7 | g.107661752G= | CA1732727278 | SLC26A4,SLC26A4-AS1 | c.111G= (p.Glu37=) n.47C= | |
7 | g.107661752G>T | CA368845114 | SLC26A4,SLC26A4-AS1 | c.111G>T (p.Glu37Asp) n.47C>A | gnomAD v4 |
7 | g.107661753C>A | CA457104196 | SLC26A4,SLC26A4-AS1 | c.112C>A (p.Arg38=) n.46G>T | gnomAD v4 |
7 | g.107661753C>G | CA368845116 | SLC26A4,SLC26A4-AS1 | c.112C>G (p.Arg38Gly) n.46G>C | |
7 | g.107661753C>T | CA368845118 | SLC26A4,SLC26A4-AS1 | c.112C>T (p.Arg38Trp) n.46G>A | gnomAD v4 |
7 | g.107661754G>A | CA368845121 | SLC26A4,SLC26A4-AS1 | c.113G>A (p.Arg38Gln) n.45C>T | dbSNP gnomAD v4 |
7 | g.107661754G>C | CA368845122 | SLC26A4,SLC26A4-AS1 | c.113G>C (p.Arg38Pro) n.45C>G | gnomAD v4 |
7 | g.107661754G= | CA1732727281 | SLC26A4,SLC26A4-AS1 | c.113G= (p.Arg38=) n.45C= | |
7 | g.107661754G>T | CA164207357 | SLC26A4,SLC26A4-AS1 | c.113G>T (p.Arg38Leu) n.45C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661755del | CA2695208241 | SLC26A4,SLC26A4-AS1 | c.114del (p.Arg39AlafsTer27) n.45del | |
7 | g.107661754_107661766delinsGGCGCCTGCAGGA | CA1732727282 | SLC26A4,SLC26A4-AS1 | c.113_125delinsGGCGCCTGCAGGA (p.Arg38=) n.33_45delinsTCCTGCAGGCGCC | |
7 | g.107661755G>A | CA457104197 | SLC26A4,SLC26A4-AS1 | c.114G>A (p.Arg38=) n.44C>T | dbSNP |
7 | g.107661755G>C | CA457104198 | SLC26A4,SLC26A4-AS1 | c.114G>C (p.Arg38=) n.44C>G | |
7 | g.107661755G>T | CA457104199 | SLC26A4,SLC26A4-AS1 | c.114G>T (p.Arg38=) n.44C>A | gnomAD v4 |
7 | g.107661759_107661770del | CA831167012 | SLC26A4,SLC26A4-AS1 | c.118_129del (p.Leu40_Arg43del) n.33_44del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661756C>A | CA368845123 | SLC26A4,SLC26A4-AS1 | c.115C>A (p.Arg39Ser) n.43G>T | gnomAD v4 |
7 | g.107661756C= | CA1732727288 | SLC26A4,SLC26A4-AS1 | c.115C= (p.Arg39=) n.43G= | |
7 | g.107661756C>G | CA368845125 | SLC26A4,SLC26A4-AS1 | c.115C>G (p.Arg39Gly) n.43G>C | dbSNP |
7 | g.107661756C>T | CA368845126 | SLC26A4,SLC26A4-AS1 | c.115C>T (p.Arg39Cys) n.43G>A | gnomAD v4 |
7 | g.107661756_107661786delinsCGCCTGCAGGAGCGCAAGACGCTGCGGGAGA | CA1732727290 | SLC26A4,SLC26A4-AS1 | c.115_145delinsCGCCTGCAGGAGCGCAAGACGCTGCGGGAGA (p.Arg39=) n.13_43delinsTCTCCCGCAGCGTCTTGCGCTCCTGCAGGCG | |
7 | g.107661757G>A | CA368845127 | SLC26A4,SLC26A4-AS1 | c.116G>A (p.Arg39His) n.42C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661757G>C | CA368845129 | SLC26A4,SLC26A4-AS1 | c.116G>C (p.Arg39Pro) n.42C>G | gnomAD v4 |
7 | g.107661757G= | CA1732727294 | SLC26A4,SLC26A4-AS1 | c.116G= (p.Arg39=) n.42C= | |
7 | g.107661757G>T | CA368845131 | SLC26A4,SLC26A4-AS1 | c.116G>T (p.Arg39Leu) n.42C>A | gnomAD v4 |
7 | g.107661762_107661791del | CA1732727292 | SLC26A4,SLC26A4-AS1 | c.121_150del (p.Gln41_Leu50del) n.13_42del | dbSNP gnomAD v4 |
7 | g.107661758C>A | CA457104200 | SLC26A4,SLC26A4-AS1 | c.117C>A (p.Arg39=) n.41G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661758C= | CA1732727296 | SLC26A4,SLC26A4-AS1 | c.117C= (p.Arg39=) n.41G= | |
7 | g.107661758C>G | CA457104201 | SLC26A4,SLC26A4-AS1 | c.117C>G (p.Arg39=) n.41G>C | |
7 | g.107661758C>T | CA457104202 | SLC26A4,SLC26A4-AS1 | c.117C>T (p.Arg39=) n.41G>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661759C>A | CA368845132 | SLC26A4,SLC26A4-AS1 | c.118C>A (p.Leu40Met) n.40G>T | gnomAD v4 |
7 | g.107661759C>G | CA368845134 | SLC26A4,SLC26A4-AS1 | c.118C>G (p.Leu40Val) n.40G>C | |
7 | g.107661759C>T | CA457104203 | SLC26A4,SLC26A4-AS1 | c.118C>T (p.Leu40=) n.40G>A | |
7 | g.107661760del | CA2695208242 | SLC26A4,SLC26A4-AS1 | c.119del (p.Leu40ArgfsTer26) n.39del | |
7 | g.107661760T>A | CA368845135 | SLC26A4,SLC26A4-AS1 | c.119T>A (p.Leu40Gln) n.39A>T | gnomAD v4 |
7 | g.107661760T>C | CA368845138 | SLC26A4,SLC26A4-AS1 | c.119T>C (p.Leu40Pro) n.39A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661760T>G | CA368845136 | SLC26A4,SLC26A4-AS1 | c.119T>G (p.Leu40Arg) n.39A>C | gnomAD v4 |
7 | g.107661760T= | CA1732727300 | SLC26A4,SLC26A4-AS1 | c.119T= (p.Leu40=) n.39A= | |
7 | g.107661761G>A | CA457104204 | SLC26A4,SLC26A4-AS1 | c.120G>A (p.Leu40=) n.38C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661761G>C | CA457104205 | SLC26A4,SLC26A4-AS1 | c.120G>C (p.Leu40=) n.38C>G | |
7 | g.107661761G= | CA1732727305 | SLC26A4,SLC26A4-AS1 | c.120G= (p.Leu40=) n.38C= | |
7 | g.107661761G>T | CA457104206 | SLC26A4,SLC26A4-AS1 | c.120G>T (p.Leu40=) n.38C>A | gnomAD v4 |
7 | g.107661761_107661779del | CA2684465734 | SLC26A4,SLC26A4-AS1 | c.120_138del (p.Gln41GlyfsTer19) n.20_38del | gnomAD v4 |
7 | g.107661762C>A | CA368845140 | SLC26A4,SLC26A4-AS1 | c.121C>A (p.Gln41Lys) n.37G>T | gnomAD v4 |
7 | g.107661762C>G | CA368845143 | SLC26A4,SLC26A4-AS1 | c.121C>G (p.Gln41Glu) n.37G>C | |
7 | g.107661762C>T | CA368845141 | SLC26A4,SLC26A4-AS1 | c.121C>T (p.Gln41Ter) n.37G>A | gnomAD v4 |
7 | g.107661763A>C | CA368845145 | SLC26A4,SLC26A4-AS1 | c.122A>C (p.Gln41Pro) n.36T>G | |
7 | g.107661763A>G | CA368845148 | SLC26A4,SLC26A4-AS1 | c.122A>G (p.Gln41Arg) n.36T>C | gnomAD v4 |
7 | g.107661763A>T | CA368845147 | SLC26A4,SLC26A4-AS1 | c.122A>T (p.Gln41Leu) n.36T>A | gnomAD v4 |
7 | g.107661764G>A | CA457104207 | SLC26A4,SLC26A4-AS1 | c.123G>A (p.Gln41=) n.35C>T | |
7 | g.107661764G>C | CA368845150 | SLC26A4,SLC26A4-AS1 | c.123G>C (p.Gln41His) n.35C>G | |
7 | g.107661764G>T | CA368845152 | SLC26A4,SLC26A4-AS1 | c.123G>T (p.Gln41His) n.35C>A | gnomAD v4 |
7 | g.107661765G>A | CA368845154 | SLC26A4,SLC26A4-AS1 | c.124G>A (p.Glu42Lys) n.34C>T | gnomAD v4 |
7 | g.107661765G>C | CA164207365 | SLC26A4,SLC26A4-AS1 | c.124G>C (p.Glu42Gln) n.34C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661765G= | CA1732727308 | SLC26A4,SLC26A4-AS1 | c.124G= (p.Glu42=) n.34C= | |
7 | g.107661765G>T | CA368845156 | SLC26A4,SLC26A4-AS1 | c.124G>T (p.Glu42Ter) n.34C>A | gnomAD v4 |
7 | g.107661766A>C | CA368845158 | SLC26A4,SLC26A4-AS1 | c.125A>C (p.Glu42Ala) n.33T>G | |
7 | g.107661766A>G | CA368845160 | SLC26A4,SLC26A4-AS1 | c.125A>G (p.Glu42Gly) n.33T>C | |
7 | g.107661766A>T | CA368845161 | SLC26A4,SLC26A4-AS1 | c.125A>T (p.Glu42Val) n.33T>A | gnomAD v4 |
7 | g.107661767G>A | CA457104208 | SLC26A4,SLC26A4-AS1 | c.126G>A (p.Glu42=) n.32C>T | gnomAD v4 |
7 | g.107661767G>C | CA368845163 | SLC26A4,SLC26A4-AS1 | c.126G>C (p.Glu42Asp) n.32C>G | |
7 | g.107661767G>T | CA368845164 | SLC26A4,SLC26A4-AS1 | c.126G>T (p.Glu42Asp) n.32C>A | gnomAD v4 |
7 | g.107661768C>A | CA368845170 | SLC26A4,SLC26A4-AS1 | c.127C>A (p.Arg43Ser) n.31G>T | gnomAD v4 |
7 | g.107661768C= | CA1732727311 | SLC26A4,SLC26A4-AS1 | c.127C= (p.Arg43=) n.31G= | |
7 | g.107661768C>G | CA368845168 | SLC26A4,SLC26A4-AS1 | c.127C>G (p.Arg43Gly) n.31G>C | dbSNP |
7 | g.107661768C>T | CA368845166 | SLC26A4,SLC26A4-AS1 | c.127C>T (p.Arg43Cys) n.31G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661769del | CA2695208243 | SLC26A4,SLC26A4-AS1 | c.128del (p.Arg43ProfsTer23) n.30del | |
7 | g.107661769G>A | CA4432368 | SLC26A4,SLC26A4-AS1 | c.128G>A (p.Arg43His) n.30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661769G>C | CA368845172 | SLC26A4,SLC26A4-AS1 | c.128G>C (p.Arg43Pro) n.30C>G | |
7 | g.107661769G= | CA1732727320 | SLC26A4,SLC26A4-AS1 | c.128G= (p.Arg43=) n.30C= | |
7 | g.107661769G>T | CA4432367 | SLC26A4,SLC26A4-AS1 | c.128G>T (p.Arg43Leu) n.30C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661770C>A | CA457104210 | SLC26A4,SLC26A4-AS1 | c.129C>A (p.Arg43=) n.29G>T | gnomAD v4 |
7 | g.107661770C>G | CA457104211 | SLC26A4,SLC26A4-AS1 | c.129C>G (p.Arg43=) n.29G>C | |
7 | g.107661770C>T | CA457104209 | SLC26A4,SLC26A4-AS1 | c.129C>T (p.Arg43=) n.29G>A | |
7 | g.107661770dup | CA2695208244 | SLC26A4,SLC26A4-AS1 | c.129dup (p.Lys44GlnfsTer?) n.29dup | |
7 | g.107661770_107661771delinsCA | CA1732727327 | SLC26A4,SLC26A4-AS1 | c.129_130delinsCA (p.Arg43=) n.28_29delinsTG | |
7 | g.107661770_107661771insTT | CA2684465735 | SLC26A4,SLC26A4-AS1 | c.129_130insTT (p.Lys44LeufsTer23) n.28_29insAA | gnomAD v4 |
7 | g.107661771A>C | CA368845175 | SLC26A4,SLC26A4-AS1 | c.130A>C (p.Lys44Gln) n.28T>G | |
7 | g.107661771A>G | CA368845176 | SLC26A4,SLC26A4-AS1 | c.130A>G (p.Lys44Glu) n.28T>C | gnomAD v4 |
7 | g.107661771A>T | CA368845177 | SLC26A4,SLC26A4-AS1 | c.130A>T (p.Lys44Ter) n.28T>A | |
7 | g.107661771delinsTTG | CA915945407 | SLC26A4,SLC26A4-AS1 | c.130delinsTTG (p.Lys44LeufsTer23) n.28delinsCAA | ClinVar dbSNP |
7 | g.107661772dup | CA2695208245 | SLC26A4,SLC26A4-AS1 | c.131dup (p.Thr45AspfsTer?) n.28dup | |
7 | g.107661772A>C | CA368845178 | SLC26A4,SLC26A4-AS1 | c.131A>C (p.Lys44Thr) n.27T>G | |
7 | g.107661772A>G | CA368845179 | SLC26A4,SLC26A4-AS1 | c.131A>G (p.Lys44Arg) n.27T>C | |
7 | g.107661772A>T | CA368845181 | SLC26A4,SLC26A4-AS1 | c.131A>T (p.Lys44Met) n.27T>A | |
7 | g.107661773G>A | CA457104212 | SLC26A4,SLC26A4-AS1 | c.132G>A (p.Lys44=) n.26C>T | ClinVar gnomAD v4 |
7 | g.107661773G>C | CA4432369 | SLC26A4,SLC26A4-AS1 | c.132G>C (p.Lys44Asn) n.26C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661773G= | CA1732727335 | SLC26A4,SLC26A4-AS1 | c.132G= (p.Lys44=) n.26C= | |
7 | g.107661773G>T | CA368845183 | SLC26A4,SLC26A4-AS1 | c.132G>T (p.Lys44Asn) n.26C>A | gnomAD v4 |
7 | g.107661774A>C | CA368845187 | SLC26A4,SLC26A4-AS1 | c.133A>C (p.Thr45Pro) n.25T>G | |
7 | g.107661774A>G | CA368845188 | SLC26A4,SLC26A4-AS1 | c.133A>G (p.Thr45Ala) n.25T>C | |
7 | g.107661774A>T | CA368845186 | SLC26A4,SLC26A4-AS1 | c.133A>T (p.Thr45Ser) n.25T>A | |
7 | g.107661774dup | CA2838430021 | SLC26A4,SLC26A4-AS1 | c.133dup (p.Thr45AsnfsTer?) n.25dup | |
7 | g.107661775C>A | CA368845190 | SLC26A4,SLC26A4-AS1 | c.134C>A (p.Thr45Lys) n.24G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661775C= | CA1732727338 | SLC26A4,SLC26A4-AS1 | c.134C= (p.Thr45=) n.24G= | |
7 | g.107661775C>G | CA368845192 | SLC26A4,SLC26A4-AS1 | c.134C>G (p.Thr45Arg) n.24G>C | |
7 | g.107661775C>T | CA164207382 | SLC26A4,SLC26A4-AS1 | c.134C>T (p.Thr45Met) n.24G>A | dbSNP gnomAD v4 |
7 | g.107661776G>A | CA457104214 | SLC26A4,SLC26A4-AS1 | c.135G>A (p.Thr45=) n.23C>T | ClinVar gnomAD v4 |
7 | g.107661776G>C | CA457104213 | SLC26A4,SLC26A4-AS1 | c.135G>C (p.Thr45=) n.23C>G | |
7 | g.107661776G= | CA1732727344 | SLC26A4,SLC26A4-AS1 | c.135G= (p.Thr45=) n.23C= | |
7 | g.107661776G>T | CA4432370 | SLC26A4,SLC26A4-AS1 | c.135G>T (p.Thr45=) n.23C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661777C>A | CA368845196 | SLC26A4,SLC26A4-AS1 | c.136C>A (p.Leu46Met) n.22G>T | gnomAD v4 |
7 | g.107661777C>G | CA368845197 | SLC26A4,SLC26A4-AS1 | c.136C>G (p.Leu46Val) n.22G>C | |
7 | g.107661777C>T | CA457104215 | SLC26A4,SLC26A4-AS1 | c.136C>T (p.Leu46=) n.22G>A | |
7 | g.107661778T>A | CA368845200 | SLC26A4,SLC26A4-AS1 | c.137T>A (p.Leu46Gln) n.21A>T | |
7 | g.107661778T>C | CA368845201 | SLC26A4,SLC26A4-AS1 | c.137T>C (p.Leu46Pro) n.21A>G | dbSNP gnomAD v2 |
7 | g.107661778T>G | CA368845203 | SLC26A4,SLC26A4-AS1 | c.137T>G (p.Leu46Arg) n.21A>C | |
7 | g.107661778T= | CA1732727348 | SLC26A4,SLC26A4-AS1 | c.137T= (p.Leu46=) n.21A= | |
7 | g.107661779G>A | CA457104216 | SLC26A4,SLC26A4-AS1 | c.138G>A (p.Leu46=) n.20C>T | gnomAD v4 |
7 | g.107661779G>C | CA457104217 | SLC26A4,SLC26A4-AS1 | c.138G>C (p.Leu46=) n.20C>G | |
7 | g.107661779G= | CA1732727350 | SLC26A4,SLC26A4-AS1 | c.138G= (p.Leu46=) n.20C= | |
7 | g.107661779G>T | CA457104218 | SLC26A4,SLC26A4-AS1 | c.138G>T (p.Leu46=) n.20C>A | gnomAD v4 |
7 | g.107661780C>A | CA457104219 | SLC26A4,SLC26A4-AS1 | c.139C>A (p.Arg47=) n.19G>T | gnomAD v4 |
7 | g.107661780C= | CA1732727353 | SLC26A4,SLC26A4-AS1 | c.139C= (p.Arg47=) n.19G= | |
7 | g.107661780C>G | CA368845205 | SLC26A4,SLC26A4-AS1 | c.139C>G (p.Arg47Gly) n.19G>C | |
7 | g.107661780C>T | CA368845206 | SLC26A4,SLC26A4-AS1 | c.139C>T (p.Arg47Trp) n.19G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.107661780dup | CA1732727354 | SLC26A4,SLC26A4-AS1 | c.139dup (p.Arg47ProfsTer?) n.19dup | dbSNP |
7 | g.107661781G>A | CA368845210 | SLC26A4,SLC26A4-AS1 | c.140G>A (p.Arg47Gln) n.18C>T | dbSNP gnomAD v4 |
7 | g.107661781G>C | CA368845211 | SLC26A4,SLC26A4-AS1 | c.140G>C (p.Arg47Pro) n.18C>G | gnomAD v4 |
7 | g.107661781G= | CA1732727359 | SLC26A4,SLC26A4-AS1 | c.140G= (p.Arg47=) n.18C= | |
7 | g.107661781G>T | CA368845209 | SLC26A4,SLC26A4-AS1 | c.140G>T (p.Arg47Leu) n.18C>A | gnomAD v4 |
7 | g.107661783del | CA2843648152 | SLC26A4,SLC26A4-AS1 | c.142del (p.Glu48ArgfsTer18) n.18del | |
7 | g.107661782G>A | CA457104220 | SLC26A4,SLC26A4-AS1 | c.141G>A (p.Arg47=) n.17C>T | ClinVar gnomAD v4 |
7 | g.107661782G>C | CA457104221 | SLC26A4,SLC26A4-AS1 | c.141G>C (p.Arg47=) n.17C>G | |
7 | g.107661782G= | CA1732727361 | SLC26A4,SLC26A4-AS1 | c.141G= (p.Arg47=) n.17C= | |
7 | g.107661782G>T | CA457104222 | SLC26A4,SLC26A4-AS1 | c.141G>T (p.Arg47=) n.17C>A | gnomAD v4 |
7 | g.107661783G>A | CA4432372 | SLC26A4,SLC26A4-AS1 | c.142G>A (p.Glu48Lys) n.16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661783G>C | CA368845214 | SLC26A4,SLC26A4-AS1 | c.142G>C (p.Glu48Gln) n.16C>G | gnomAD v4 |
7 | g.107661783G= | CA1732727364 | SLC26A4,SLC26A4-AS1 | c.142G= (p.Glu48=) n.16C= | |
7 | g.107661783G>T | CA4432371 | SLC26A4,SLC26A4-AS1 | c.142G>T (p.Glu48Ter) n.16C>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.107661786_107661787dup | CA1732727366 | SLC26A4,SLC26A4-AS1 | c.145_146dup (p.Ser49ArgfsTer18) n.15_16dup | ClinVar dbSNP |
7 | g.107661784A>C | CA368845217 | SLC26A4,SLC26A4-AS1 | c.143A>C (p.Glu48Ala) n.15T>G | |
7 | g.107661784A>G | CA368845219 | SLC26A4,SLC26A4-AS1 | c.143A>G (p.Glu48Gly) n.15T>C | gnomAD v4 |
7 | g.107661784A>T | CA368845220 | SLC26A4,SLC26A4-AS1 | c.143A>T (p.Glu48Val) n.15T>A | |
7 | g.107661784_107661785insC | CA2684465739 | SLC26A4,SLC26A4-AS1 | c.143_144insC (p.Glu48AspfsTer?) n.14_15insG | gnomAD v4 |
7 | g.107661785G>A | CA457104223 | SLC26A4,SLC26A4-AS1 | c.144G>A (p.Glu48=) n.14C>T | ClinVar gnomAD v4 |
7 | g.107661785G>C | CA368845222 | SLC26A4,SLC26A4-AS1 | c.144G>C (p.Glu48Asp) n.14C>G | |
7 | g.107661785G>T | CA368845224 | SLC26A4,SLC26A4-AS1 | c.144G>T (p.Glu48Asp) n.14C>A | gnomAD v4 |
7 | g.107661786A= | CA1732727369 | SLC26A4,SLC26A4-AS1 | c.145A= (p.Ser49=) n.13T= | |
7 | g.107661786A>C | CA368845226 | SLC26A4,SLC26A4-AS1 | c.145A>C (p.Ser49Arg) n.13T>G | gnomAD v4 |
7 | g.107661786A>G | CA368845227 | SLC26A4,SLC26A4-AS1 | c.145A>G (p.Ser49Gly) n.13T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107661786A>T | CA368845229 | SLC26A4,SLC26A4-AS1 | c.145A>T (p.Ser49Cys) n.13T>A | |
7 | g.107661787G>A | CA368845231 | SLC26A4,SLC26A4-AS1 | c.146G>A (p.Ser49Asn) n.12C>T | gnomAD v4 |
7 | g.107661787G>C | CA368845233 | SLC26A4,SLC26A4-AS1 | c.146G>C (p.Ser49Thr) n.12C>G | gnomAD v4 |
7 | g.107661787G>T | CA368845234 | SLC26A4,SLC26A4-AS1 | c.146G>T (p.Ser49Ile) n.12C>A | gnomAD v4 |
7 | g.107661788C>A | CA368845237 | SLC26A4,SLC26A4-AS1 | c.147C>A (p.Ser49Arg) n.11G>T | gnomAD v4 |
7 | g.107661788C= | CA1732727372 | SLC26A4,SLC26A4-AS1 | c.147C= (p.Ser49=) n.11G= | |
7 | g.107661788C>G | CA4432373 | SLC26A4,SLC26A4-AS1 | c.147C>G (p.Ser49Arg) n.11G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661788C>T | CA457104224 | SLC26A4,SLC26A4-AS1 | c.147C>T (p.Ser49=) n.11G>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661789C>A | CA368845239 | SLC26A4,SLC26A4-AS1 | c.148C>A (p.Leu50Met) n.10G>T | |
7 | g.107661789C= | CA1732727377 | SLC26A4,SLC26A4-AS1 | c.148C= (p.Leu50=) n.10G= | |
7 | g.107661789C>G | CA368845240 | SLC26A4,SLC26A4-AS1 | c.148C>G (p.Leu50Val) n.10G>C | dbSNP gnomAD v2 |
7 | g.107661789C>T | CA457104225 | SLC26A4,SLC26A4-AS1 | c.148C>T (p.Leu50=) n.10G>A | ClinVar dbSNP gnomAD v2 |
7 | g.107661790T>A | CA368845242 | SLC26A4,SLC26A4-AS1 | c.149T>A (p.Leu50Gln) n.9A>T | |
7 | g.107661790T>C | CA368845243 | SLC26A4,SLC26A4-AS1 | c.149T>C (p.Leu50Pro) n.9A>G | ClinVar dbSNP gnomAD v4 |
7 | g.107661790T>G | CA368845245 | SLC26A4,SLC26A4-AS1 | c.149T>G (p.Leu50Arg) n.9A>C | |
7 | g.107661790T= | CA1732727382 | SLC26A4,SLC26A4-AS1 | c.149T= (p.Leu50=) n.9A= | |
7 | g.107661791G>A | CA457104227 | SLC26A4,SLC26A4-AS1 | c.150G>A (p.Leu50=) n.8C>T | |
7 | g.107661791G>C | CA164207420 | SLC26A4,SLC26A4-AS1 | c.150G>C (p.Leu50=) n.8C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661791G= | CA1732727385 | SLC26A4,SLC26A4-AS1 | c.150G= (p.Leu50=) n.8C= | |
7 | g.107661791G>T | CA457104226 | SLC26A4,SLC26A4-AS1 | c.150G>T (p.Leu50=) n.8C>A | gnomAD v4 |
7 | g.107661792G>A | CA368845251 | SLC26A4,SLC26A4-AS1 | c.151G>A (p.Ala51Thr) n.7C>T | gnomAD v4 |
7 | g.107661792G>C | CA368845249 | SLC26A4,SLC26A4-AS1 | c.151G>C (p.Ala51Pro) n.7C>G | |
7 | g.107661792G>T | CA368845247 | SLC26A4,SLC26A4-AS1 | c.151G>T (p.Ala51Ser) n.7C>A | gnomAD v4 |
7 | g.107661793C>A | CA368845254 | SLC26A4,SLC26A4-AS1 | c.152C>A (p.Ala51Asp) n.6G>T | gnomAD v4 |
7 | g.107661793C= | CA1732727389 | SLC26A4,SLC26A4-AS1 | c.152C= (p.Ala51=) n.6G= | |
7 | g.107661793C>G | CA368845255 | SLC26A4,SLC26A4-AS1 | c.152C>G (p.Ala51Gly) n.6G>C | gnomAD v4 |
7 | g.107661793C>T | CA368845257 | SLC26A4,SLC26A4-AS1 | c.152C>T (p.Ala51Val) n.6G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661794C>A | CA457104230 | SLC26A4,SLC26A4-AS1 | c.153C>A (p.Ala51=) n.5G>T | gnomAD v4 |
7 | g.107661794C>G | CA457104229 | SLC26A4,SLC26A4-AS1 | c.153C>G (p.Ala51=) n.5G>C | ClinVar |
7 | g.107661794C>T | CA457104228 | SLC26A4,SLC26A4-AS1 | c.153C>T (p.Ala51=) n.5G>A | gnomAD v4 |
7 | g.107661795A= | CA1732727395 | SLC26A4,SLC26A4-AS1 | c.154A= (p.Lys52=) n.4T= | |
7 | g.107661795A>C | CA368845258 | SLC26A4,SLC26A4-AS1 | c.154A>C (p.Lys52Gln) n.4T>G | |
7 | g.107661795A>G | CA368845260 | SLC26A4,SLC26A4-AS1 | c.154A>G (p.Lys52Glu) n.4T>C | ClinVar gnomAD v4 |
7 | g.107661795A>T | CA368845262 | SLC26A4,SLC26A4-AS1 | c.154A>T (p.Lys52Ter) n.4T>A | ClinVar dbSNP gnomAD v4 |
7 | g.107661796dup | CA2545200152 | SLC26A4,SLC26A4-AS1 | c.155dup (p.Cys53ValfsTer?) n.4dup | |
7 | g.107661796A>C | CA368845266 | SLC26A4,SLC26A4-AS1 | c.155A>C (p.Lys52Thr) n.3T>G | |
7 | g.107661796A>G | CA368845264 | SLC26A4,SLC26A4-AS1 | c.155A>G (p.Lys52Arg) n.3T>C | |
7 | g.107661796A>T | CA368845265 | SLC26A4,SLC26A4-AS1 | c.155A>T (p.Lys52Met) n.3T>A | |
7 | g.107661797G>A | CA457104231 | SLC26A4,SLC26A4-AS1 | c.156G>A (p.Lys52=) n.2C>T | ClinVar gnomAD v4 |
7 | g.107661797G>C | CA368845267 | SLC26A4,SLC26A4-AS1 | c.156G>C (p.Lys52Asn) n.2C>G | dbSNP |
7 | g.107661797G= | CA1732727398 | SLC26A4,SLC26A4-AS1 | c.156G= (p.Lys52=) n.2C= | |
7 | g.107661797G>T | CA368845268 | SLC26A4,SLC26A4-AS1 | c.156G>T (p.Lys52Asn) n.2C>A | gnomAD v4 |
7 | g.107661798T>A | CA368845269 | SLC26A4,SLC26A4-AS1 | c.157T>A (p.Cys53Ser) n.1A>T | |
7 | g.107661798T>C | CA368845270 | SLC26A4,SLC26A4-AS1 | c.157T>C (p.Cys53Arg) n.1A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.107661798T>G | CA368845271 | SLC26A4,SLC26A4-AS1 | c.157T>G (p.Cys53Gly) n.1A>C | gnomAD v4 |
7 | g.107661798T= | CA1732727400 | SLC26A4,SLC26A4-AS1 | c.157T= (p.Cys53=) n.1A= | |
7 | g.107661801_107661803dup | CA2548291676 | SLC26A4 | c.160_162dup (p.Cys54_Ser55insCys) | |
7 | g.107661799G>A | CA368845272 | SLC26A4 | c.158G>A (p.Cys53Tyr) | gnomAD v4 |
7 | g.107661799G>C | CA368845273 | SLC26A4 | c.158G>C (p.Cys53Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107661799G= | CA1732727402 | SLC26A4 | c.158G= (p.Cys53=) | |
7 | g.107661799G>T | CA368845274 | SLC26A4 | c.158G>T (p.Cys53Phe) | gnomAD v4 |