UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980316G>A | CA447401921 | SLC26A2 | c.723G>A (p.Val241=) c.372+1965G>A (n.372+1965G>A) | |
| 5 | g.149980316G>C | CA447401923 | SLC26A2 | c.723G>C (p.Val241=) c.372+1965G>C (n.372+1965G>C) | |
| 5 | g.149980316G>T | CA447401922 | SLC26A2 | c.723G>T (p.Val241=) c.372+1965G>T (n.372+1965G>T) | |
| 5 | g.149980317G>A | CA361706127 | SLC26A2 | c.724G>A (p.Gly242Ser) c.372+1966G>A (n.372+1966G>A) | |
| 5 | g.149980317G>C | CA361706128 | SLC26A2 | c.724G>C (p.Gly242Arg) c.372+1966G>C (n.372+1966G>C) | |
| 5 | g.149980317G>T | CA361706129 | SLC26A2 | c.724G>T (p.Gly242Cys) c.372+1966G>T (n.372+1966G>T) | |
| 5 | g.149980318G>A | CA361706131 | SLC26A2 | c.725G>A (p.Gly242Asp) c.372+1967G>A (n.372+1967G>A) | gnomAD v4 |
| 5 | g.149980318G>C | CA361706132 | SLC26A2 | c.725G>C (p.Gly242Ala) c.372+1967G>C (n.372+1967G>C) | |
| 5 | g.149980318G>T | CA361706130 | SLC26A2 | c.725G>T (p.Gly242Val) c.372+1967G>T (n.372+1967G>T) | ClinVar |
| 5 | g.149980319T>A | CA447401932 | SLC26A2 | c.726T>A (p.Gly242=) c.372+1968T>A (n.372+1968T>A) | |
| 5 | g.149980319T>C | CA447401931 | SLC26A2 | c.726T>C (p.Gly242=) c.372+1968T>C (n.372+1968T>C) | |
| 5 | g.149980319T>G | CA447401930 | SLC26A2 | c.726T>G (p.Gly242=) c.372+1968T>G (n.372+1968T>G) | |
| 5 | g.149980320T>A | CA361706133 | SLC26A2 | c.727T>A (p.Phe243Ile) c.372+1969T>A (n.372+1969T>A) | |
| 5 | g.149980320T>C | CA361706134 | SLC26A2 | c.727T>C (p.Phe243Leu) c.372+1969T>C (n.372+1969T>C) | |
| 5 | g.149980320T>G | CA361706135 | SLC26A2 | c.727T>G (p.Phe243Val) c.372+1969T>G (n.372+1969T>G) | |
| 5 | g.149980321T>A | CA361706136 | SLC26A2 | c.728T>A (p.Phe243Tyr) c.372+1970T>A (n.372+1970T>A) | |
| 5 | g.149980321T>C | CA361706137 | SLC26A2 | c.728T>C (p.Phe243Ser) c.372+1970T>C (n.372+1970T>C) | |
| 5 | g.149980321T>G | CA361706138 | SLC26A2 | c.728T>G (p.Phe243Cys) c.372+1970T>G (n.372+1970T>G) | |
| 5 | g.149980322T>A | CA361706139 | SLC26A2 | c.729T>A (p.Phe243Leu) c.372+1971T>A (n.372+1971T>A) | |
| 5 | g.149980322T>C | CA447401937 | SLC26A2 | c.729T>C (p.Phe243=) c.372+1971T>C (n.372+1971T>C) | |
| 5 | g.149980322T>G | CA361706140 | SLC26A2 | c.729T>G (p.Phe243Leu) c.372+1971T>G (n.372+1971T>G) | dbSNP gnomAD v4 |
| 5 | g.149980322T= | CA1590738310 | SLC26A2 | c.729T= (p.Phe243=) c.372+1971T= (n.372+1971T=) | |
| 5 | g.149980323G>A | CA361706141 | SLC26A2 | c.730G>A (p.Val244Ile) c.372+1972G>A (n.372+1972G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980323G>C | CA361706142 | SLC26A2 | c.730G>C (p.Val244Leu) c.372+1972G>C (n.372+1972G>C) | gnomAD v4 |
| 5 | g.149980323G= | CA1590738311 | SLC26A2 | c.730G= (p.Val244=) c.372+1972G= (n.372+1972G=) | |
| 5 | g.149980323G>T | CA361706143 | SLC26A2 | c.730G>T (p.Val244Phe) c.372+1972G>T (n.372+1972G>T) | gnomAD v4 |
| 5 | g.149980324T>A | CA361706145 | SLC26A2 | c.731T>A (p.Val244Asp) c.372+1973T>A (n.372+1973T>A) | |
| 5 | g.149980324T>C | CA361706146 | SLC26A2 | c.731T>C (p.Val244Ala) c.372+1973T>C (n.372+1973T>C) | |
| 5 | g.149980324T>G | CA361706144 | SLC26A2 | c.731T>G (p.Val244Gly) c.372+1973T>G (n.372+1973T>G) | |
| 5 | g.149980325T>A | CA447401945 | SLC26A2 | c.732T>A (p.Val244=) c.372+1974T>A (n.372+1974T>A) | |
| 5 | g.149980325T>C | CA447401947 | SLC26A2 | c.732T>C (p.Val244=) c.372+1974T>C (n.372+1974T>C) | ClinVar dbSNP |
| 5 | g.149980325T>G | CA447401948 | SLC26A2 | c.732T>G (p.Val244=) c.372+1974T>G (n.372+1974T>G) | |
| 5 | g.149980325_149980329delinsTTCTG | CA1590738312 | SLC26A2 | c.732_736delinsTTCTG (p.Val244=) c.372+1974_372+1978delinsTTCTG (n.372+1974_372+1978delinsTTCTG) | |
| 5 | g.149980326T>A | CA361706147 | SLC26A2 | c.733T>A (p.Ser245Thr) c.372+1975T>A (n.372+1975T>A) | |
| 5 | g.149980326T>C | CA361706148 | SLC26A2 | c.733T>C (p.Ser245Pro) c.372+1975T>C (n.372+1975T>C) | |
| 5 | g.149980326T>G | CA361706149 | SLC26A2 | c.733T>G (p.Ser245Ala) c.372+1975T>G (n.372+1975T>G) | |
| 5 | g.149980329_149980332del | CA16040990 | SLC26A2 | c.736_739del (p.Val246ThrfsTer7) c.372+1978_372+1981del (n.372+1978_372+1981del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980327C>A | CA361706150 | SLC26A2 | c.734C>A (p.Ser245Tyr) c.372+1976C>A (n.372+1976C>A) | |
| 5 | g.149980327C>G | CA361706151 | SLC26A2 | c.734C>G (p.Ser245Cys) c.372+1976C>G (n.372+1976C>G) | |
| 5 | g.149980327C>T | CA361706152 | SLC26A2 | c.734C>T (p.Ser245Phe) c.372+1976C>T (n.372+1976C>T) | |
| 5 | g.149980328T>A | CA447401955 | SLC26A2 | c.735T>A (p.Ser245=) c.372+1977T>A (n.372+1977T>A) | |
| 5 | g.149980328T>C | CA447401956 | SLC26A2 | c.735T>C (p.Ser245=) c.372+1977T>C (n.372+1977T>C) | dbSNP |
| 5 | g.149980328T>G | CA447401957 | SLC26A2 | c.735T>G (p.Ser245=) c.372+1977T>G (n.372+1977T>G) | |
| 5 | g.149980328T= | CA1590738313 | SLC26A2 | c.735T= (p.Ser245=) c.372+1977T= (n.372+1977T=) | |
| 5 | g.149980329G>A | CA361706153 | SLC26A2 | c.736G>A (p.Val246Ile) c.372+1978G>A (n.372+1978G>A) | gnomAD v4 |
| 5 | g.149980329G>C | CA361706155 | SLC26A2 | c.736G>C (p.Val246Leu) c.372+1978G>C (n.372+1978G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980329G= | CA1590738314 | SLC26A2 | c.736G= (p.Val246=) c.372+1978G= (n.372+1978G=) | |
| 5 | g.149980329G>T | CA361706154 | SLC26A2 | c.736G>T (p.Val246Phe) c.372+1978G>T (n.372+1978G>T) | gnomAD v4 |
| 5 | g.149980330T>A | CA361706156 | SLC26A2 | c.737T>A (p.Val246Asp) c.372+1979T>A (n.372+1979T>A) | |
| 5 | g.149980330T>C | CA361706157 | SLC26A2 | c.737T>C (p.Val246Ala) c.372+1979T>C (n.372+1979T>C) | |
| 5 | g.149980330T>G | CA361706158 | SLC26A2 | c.737T>G (p.Val246Gly) c.372+1979T>G (n.372+1979T>G) | |
| 5 | g.149980331C>A | CA447401962 | SLC26A2 | c.738C>A (p.Val246=) c.372+1980C>A (n.372+1980C>A) | |
| 5 | g.149980331C>G | CA447401963 | SLC26A2 | c.738C>G (p.Val246=) c.372+1980C>G (n.372+1980C>G) | |
| 5 | g.149980331C>T | CA447401964 | SLC26A2 | c.738C>T (p.Val246=) c.372+1980C>T (n.372+1980C>T) | |
| 5 | g.149980332T>A | CA361706161 | SLC26A2 | c.739T>A (p.Tyr247Asn) c.372+1981T>A (n.372+1981T>A) | |
| 5 | g.149980332T>C | CA361706160 | SLC26A2 | c.739T>C (p.Tyr247His) c.372+1981T>C (n.372+1981T>C) | |
| 5 | g.149980332T>G | CA361706159 | SLC26A2 | c.739T>G (p.Tyr247Asp) c.372+1981T>G (n.372+1981T>G) | |
| 5 | g.149980333A= | CA1590738315 | SLC26A2 | c.740A= (p.Tyr247=) c.372+1982A= (n.372+1982A=) | |
| 5 | g.149980333A>C | CA361706162 | SLC26A2 | c.740A>C (p.Tyr247Ser) c.372+1982A>C (n.372+1982A>C) | |
| 5 | g.149980333A>G | CA3505316 | SLC26A2 | c.740A>G (p.Tyr247Cys) c.372+1982A>G (n.372+1982A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980333A>T | CA361706163 | SLC26A2 | c.740A>T (p.Tyr247Phe) c.372+1982A>T (n.372+1982A>T) | |
| 5 | g.149980334C>A | CA361706164 | SLC26A2 | c.741C>A (p.Tyr247Ter) c.372+1983C>A (n.372+1983C>A) | |
| 5 | g.149980334C>G | CA361706165 | SLC26A2 | c.741C>G (p.Tyr247Ter) c.372+1983C>G (n.372+1983C>G) | |
| 5 | g.149980334C>T | CA447401972 | SLC26A2 | c.741C>T (p.Tyr247=) c.372+1983C>T (n.372+1983C>T) | |
| 5 | g.149980335C>A | CA361706166 | SLC26A2 | c.742C>A (p.Leu248Ile) c.372+1984C>A (n.372+1984C>A) | |
| 5 | g.149980335C= | CA1590738316 | SLC26A2 | c.742C= (p.Leu248=) c.372+1984C= (n.372+1984C=) | |
| 5 | g.149980335C>G | CA361706167 | SLC26A2 | c.742C>G (p.Leu248Val) c.372+1984C>G (n.372+1984C>G) | |
| 5 | g.149980335C>T | CA3505317 | SLC26A2 | c.742C>T (p.Leu248Phe) c.372+1984C>T (n.372+1984C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980336T>A | CA361706168 | SLC26A2 | c.743T>A (p.Leu248His) c.372+1985T>A (n.372+1985T>A) | |
| 5 | g.149980336T>C | CA361706169 | SLC26A2 | c.743T>C (p.Leu248Pro) c.372+1985T>C (n.372+1985T>C) | COSMIC |
| 5 | g.149980336T>G | CA361706170 | SLC26A2 | c.743T>G (p.Leu248Arg) c.372+1985T>G (n.372+1985T>G) | |
| 5 | g.149980337C>A | CA447402072 | SLC26A2 | c.744C>A (p.Leu248=) c.372+1986C>A (n.372+1986C>A) | |
| 5 | g.149980337C= | CA1590738317 | SLC26A2 | c.744C= (p.Leu248=) c.372+1986C= (n.372+1986C=) | |
| 5 | g.149980337C>G | CA447402070 | SLC26A2 | c.744C>G (p.Leu248=) c.372+1986C>G (n.372+1986C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980337C>T | CA447402071 | SLC26A2 | c.744C>T (p.Leu248=) c.372+1986C>T (n.372+1986C>T) | |
| 5 | g.149980338T>A | CA361706171 | SLC26A2 | c.745T>A (p.Ser249Thr) c.372+1987T>A (n.372+1987T>A) | COSMIC |
| 5 | g.149980338T>C | CA361706172 | SLC26A2 | c.745T>C (p.Ser249Pro) c.372+1987T>C (n.372+1987T>C) | |
| 5 | g.149980338T>G | CA361706173 | SLC26A2 | c.745T>G (p.Ser249Ala) c.372+1987T>G (n.372+1987T>G) | |
| 5 | g.149980339C>A | CA361706175 | SLC26A2 | c.746C>A (p.Ser249Ter) c.372+1988C>A (n.372+1988C>A) | gnomAD v4 |
| 5 | g.149980339C= | CA1590738318 | SLC26A2 | c.746C= (p.Ser249=) c.372+1988C= (n.372+1988C=) | |
| 5 | g.149980339C>G | CA16040991 | SLC26A2 | c.746C>G (p.Ser249Ter) c.372+1988C>G (n.372+1988C>G) | ClinVar dbSNP |
| 5 | g.149980339C>T | CA361706174 | SLC26A2 | c.746C>T (p.Ser249Leu) c.372+1988C>T (n.372+1988C>T) | |
| 5 | g.149980340A>C | CA447402075 | SLC26A2 | c.747A>C (p.Ser249=) c.372+1989A>C (n.372+1989A>C) | |
| 5 | g.149980340A>G | CA447402074 | SLC26A2 | c.747A>G (p.Ser249=) c.372+1989A>G (n.372+1989A>G) | |
| 5 | g.149980340A>T | CA447402073 | SLC26A2 | c.747A>T (p.Ser249=) c.372+1989A>T (n.372+1989A>T) | |
| 5 | g.149980341G>A | CA361706176 | SLC26A2 | c.748G>A (p.Asp250Asn) c.372+1990G>A (n.372+1990G>A) | |
| 5 | g.149980341G>C | CA361706177 | SLC26A2 | c.748G>C (p.Asp250His) c.372+1990G>C (n.372+1990G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980341G= | CA1590738319 | SLC26A2 | c.748G= (p.Asp250=) c.372+1990G= (n.372+1990G=) | |
| 5 | g.149980341G>T | CA361706178 | SLC26A2 | c.748G>T (p.Asp250Tyr) c.372+1990G>T (n.372+1990G>T) | |
| 5 | g.149980342A>C | CA361706179 | SLC26A2 | c.749A>C (p.Asp250Ala) c.372+1991A>C (n.372+1991A>C) | |
| 5 | g.149980342A>G | CA361706180 | SLC26A2 | c.749A>G (p.Asp250Gly) c.372+1991A>G (n.372+1991A>G) | |
| 5 | g.149980342A>T | CA361706181 | SLC26A2 | c.749A>T (p.Asp250Val) c.372+1991A>T (n.372+1991A>T) | ClinVar dbSNP |
| 5 | g.149980343T>A | CA361706182 | SLC26A2 | c.750T>A (p.Asp250Glu) c.372+1992T>A (n.372+1992T>A) | |
| 5 | g.149980343T>C | CA447402076 | SLC26A2 | c.750T>C (p.Asp250=) c.372+1992T>C (n.372+1992T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980343T>G | CA361706183 | SLC26A2 | c.750T>G (p.Asp250Glu) c.372+1992T>G (n.372+1992T>G) | |
| 5 | g.149980343T= | CA1590738320 | SLC26A2 | c.750T= (p.Asp250=) c.372+1992T= (n.372+1992T=) | |
| 5 | g.149980344G>A | CA361706184 | SLC26A2 | c.751G>A (p.Ala251Thr) c.372+1993G>A (n.372+1993G>A) | gnomAD v4 |
| 5 | g.149980344G>C | CA361706185 | SLC26A2 | c.751G>C (p.Ala251Pro) c.372+1993G>C (n.372+1993G>C) | |
| 5 | g.149980344G= | CA1590738321 | SLC26A2 | c.751G= (p.Ala251=) c.372+1993G= (n.372+1993G=) | |
| 5 | g.149980344G>T | CA361706186 | SLC26A2 | c.751G>T (p.Ala251Ser) c.372+1993G>T (n.372+1993G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980345C>A | CA361706189 | SLC26A2 | c.752C>A (p.Ala251Asp) c.372+1994C>A (n.372+1994C>A) | |
| 5 | g.149980345C>G | CA361706188 | SLC26A2 | c.752C>G (p.Ala251Gly) c.372+1994C>G (n.372+1994C>G) | |
| 5 | g.149980345C>T | CA361706187 | SLC26A2 | c.752C>T (p.Ala251Val) c.372+1994C>T (n.372+1994C>T) | |
| 5 | g.149980346C>A | CA447402078 | SLC26A2 | c.753C>A (p.Ala251=) c.372+1995C>A (n.372+1995C>A) | |
| 5 | g.149980346C>G | CA447402079 | SLC26A2 | c.753C>G (p.Ala251=) c.372+1995C>G (n.372+1995C>G) | |
| 5 | g.149980346C>T | CA447402080 | SLC26A2 | c.753C>T (p.Ala251=) c.372+1995C>T (n.372+1995C>T) | |
| 5 | g.149980347T>A | CA361706190 | SLC26A2 | c.754T>A (p.Leu252Met) c.372+1996T>A (n.372+1996T>A) | |
| 5 | g.149980347T>C | CA447402081 | SLC26A2 | c.754T>C (p.Leu252=) c.372+1996T>C (n.372+1996T>C) | |
| 5 | g.149980347T>G | CA361706191 | SLC26A2 | c.754T>G (p.Leu252Val) c.372+1996T>G (n.372+1996T>G) | |
| 5 | g.149980348T>A | CA361706192 | SLC26A2 | c.755T>A (p.Leu252Ter) c.372+1997T>A (n.372+1997T>A) | |
| 5 | g.149980348T>C | CA361706193 | SLC26A2 | c.755T>C (p.Leu252Ser) c.372+1997T>C (n.372+1997T>C) | |
| 5 | g.149980348T>G | CA361706194 | SLC26A2 | c.755T>G (p.Leu252Trp) c.372+1997T>G (n.372+1997T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980348T= | CA1590738322 | SLC26A2 | c.755T= (p.Leu252=) c.372+1997T= (n.372+1997T=) | |
| 5 | g.149980349G>A | CA3505318 | SLC26A2 | c.756G>A (p.Leu252=) c.372+1998G>A (n.372+1998G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980349G>C | CA361706195 | SLC26A2 | c.756G>C (p.Leu252Phe) c.372+1998G>C (n.372+1998G>C) | |
| 5 | g.149980349G= | CA1590738323 | SLC26A2 | c.756G= (p.Leu252=) c.372+1998G= (n.372+1998G=) | |
| 5 | g.149980349G>T | CA361706196 | SLC26A2 | c.756G>T (p.Leu252Phe) c.372+1998G>T (n.372+1998G>T) | |
| 5 | g.149980350C>A | CA361706197 | SLC26A2 | c.757C>A (p.Leu253Met) c.372+1999C>A (n.372+1999C>A) | |
| 5 | g.149980350C>G | CA361706198 | SLC26A2 | c.757C>G (p.Leu253Val) c.372+1999C>G (n.372+1999C>G) | |
| 5 | g.149980350C>T | CA447402083 | SLC26A2 | c.757C>T (p.Leu253=) c.372+1999C>T (n.372+1999C>T) | COSMIC |
| 5 | g.149980351T>A | CA361706199 | SLC26A2 | c.758T>A (p.Leu253Gln) c.372+2000T>A (n.372+2000T>A) | ClinVar dbSNP |
| 5 | g.149980351T>C | CA361706200 | SLC26A2 | c.758T>C (p.Leu253Pro) c.372+2000T>C (n.372+2000T>C) | dbSNP |
| 5 | g.149980351T>G | CA361706201 | SLC26A2 | c.758T>G (p.Leu253Arg) c.372+2000T>G (n.372+2000T>G) | |
| 5 | g.149980351T= | CA1590738324 | SLC26A2 | c.758T= (p.Leu253=) c.372+2000T= (n.372+2000T=) | |
| 5 | g.149980352G>A | CA447402084 | SLC26A2 | c.759G>A (p.Leu253=) c.372+2001G>A (n.372+2001G>A) | ClinVar dbSNP |
| 5 | g.149980352G>C | CA447402085 | SLC26A2 | c.759G>C (p.Leu253=) c.372+2001G>C (n.372+2001G>C) | |
| 5 | g.149980352G>T | CA447402086 | SLC26A2 | c.759G>T (p.Leu253=) c.372+2001G>T (n.372+2001G>T) | |
| 5 | g.149980353A>C | CA361706204 | SLC26A2 | c.760A>C (p.Ser254Arg) c.372+2002A>C (n.372+2002A>C) | |
| 5 | g.149980353A>G | CA361706202 | SLC26A2 | c.760A>G (p.Ser254Gly) c.372+2002A>G (n.372+2002A>G) | |
| 5 | g.149980353A>T | CA361706203 | SLC26A2 | c.760A>T (p.Ser254Cys) c.372+2002A>T (n.372+2002A>T) | |
| 5 | g.149980354G>A | CA361706205 | SLC26A2 | c.761G>A (p.Ser254Asn) c.372+2003G>A (n.372+2003G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980354G>C | CA361706206 | SLC26A2 | c.761G>C (p.Ser254Thr) c.372+2003G>C (n.372+2003G>C) | |
| 5 | g.149980354G= | CA1590738325 | SLC26A2 | c.761G= (p.Ser254=) c.372+2003G= (n.372+2003G=) | |
| 5 | g.149980354G>T | CA361706207 | SLC26A2 | c.761G>T (p.Ser254Ile) c.372+2003G>T (n.372+2003G>T) | COSMIC |
| 5 | g.149980355T>A | CA361706208 | SLC26A2 | c.762T>A (p.Ser254Arg) c.372+2004T>A (n.372+2004T>A) | dbSNP |
| 5 | g.149980355T>C | CA447402090 | SLC26A2 | c.762T>C (p.Ser254=) c.372+2004T>C (n.372+2004T>C) | |
| 5 | g.149980355T>G | CA361706209 | SLC26A2 | c.762T>G (p.Ser254Arg) c.372+2004T>G (n.372+2004T>G) | |
| 5 | g.149980355T= | CA1590738326 | SLC26A2 | c.762T= (p.Ser254=) c.372+2004T= (n.372+2004T=) | |
| 5 | g.149980356G>A | CA361706210 | SLC26A2 | c.763G>A (p.Gly255Arg) c.372+2005G>A (n.372+2005G>A) | |
| 5 | g.149980356G>C | CA361706211 | SLC26A2 | c.763G>C (p.Gly255Arg) c.372+2005G>C (n.372+2005G>C) | |
| 5 | g.149980356G>T | CA361706212 | SLC26A2 | c.763G>T (p.Gly255Ter) c.372+2005G>T (n.372+2005G>T) | |
| 5 | g.149980357G>A | CA252992 | SLC26A2 | c.764G>A (p.Gly255Glu) c.372+2006G>A (n.372+2006G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980357G>C | CA361706213 | SLC26A2 | c.764G>C (p.Gly255Ala) c.372+2006G>C (n.372+2006G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980357G= | CA1590738327 | SLC26A2 | c.764G= (p.Gly255=) c.372+2006G= (n.372+2006G=) | |
| 5 | g.149980357G>T | CA361706215 | SLC26A2 | c.764G>T (p.Gly255Val) c.372+2006G>T (n.372+2006G>T) | |
| 5 | g.149980358A= | CA1590738328 | SLC26A2 | c.765A= (p.Gly255=) c.372+2007A= (n.372+2007A=) | |
| 5 | g.149980358A>C | CA447402091 | SLC26A2 | c.765A>C (p.Gly255=) c.372+2007A>C (n.372+2007A>C) | ClinVar dbSNP |
| 5 | g.149980358A>G | CA447402093 | SLC26A2 | c.765A>G (p.Gly255=) c.372+2007A>G (n.372+2007A>G) | |
| 5 | g.149980358A>T | CA447402092 | SLC26A2 | c.765A>T (p.Gly255=) c.372+2007A>T (n.372+2007A>T) | |
| 5 | g.149980359T>A | CA361706221 | SLC26A2 | c.766T>A (p.Phe256Ile) c.372+2008T>A (n.372+2008T>A) | |
| 5 | g.149980359T>C | CA361706219 | SLC26A2 | c.766T>C (p.Phe256Leu) c.372+2008T>C (n.372+2008T>C) | |
| 5 | g.149980359T>G | CA361706217 | SLC26A2 | c.766T>G (p.Phe256Val) c.372+2008T>G (n.372+2008T>G) | |
| 5 | g.149980360T>A | CA361706224 | SLC26A2 | c.767T>A (p.Phe256Tyr) c.372+2009T>A (n.372+2009T>A) | |
| 5 | g.149980360T>C | CA361706227 | SLC26A2 | c.767T>C (p.Phe256Ser) c.372+2009T>C (n.372+2009T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980360T>G | CA361706225 | SLC26A2 | c.767T>G (p.Phe256Cys) c.372+2009T>G (n.372+2009T>G) | |
| 5 | g.149980360T= | CA1590738329 | SLC26A2 | c.767T= (p.Phe256=) c.372+2009T= (n.372+2009T=) | |
| 5 | g.149980361T>A | CA361706230 | SLC26A2 | c.768T>A (p.Phe256Leu) c.372+2010T>A (n.372+2010T>A) | |
| 5 | g.149980361T>C | CA447402094 | SLC26A2 | c.768T>C (p.Phe256=) c.372+2010T>C (n.372+2010T>C) | |
| 5 | g.149980361T>G | CA361706232 | SLC26A2 | c.768T>G (p.Phe256Leu) c.372+2010T>G (n.372+2010T>G) | |
| 5 | g.149980362G>A | CA361706234 | SLC26A2 | c.769G>A (p.Val257Ile) c.372+2011G>A (n.372+2011G>A) | |
| 5 | g.149980362G>C | CA361706236 | SLC26A2 | c.769G>C (p.Val257Leu) c.372+2011G>C (n.372+2011G>C) | |
| 5 | g.149980362G>T | CA361706238 | SLC26A2 | c.769G>T (p.Val257Phe) c.372+2011G>T (n.372+2011G>T) | |
| 5 | g.149980363T>A | CA361706240 | SLC26A2 | c.770T>A (p.Val257Asp) c.372+2012T>A (n.372+2012T>A) | |
| 5 | g.149980363T>C | CA361706241 | SLC26A2 | c.770T>C (p.Val257Ala) c.372+2012T>C (n.372+2012T>C) | |
| 5 | g.149980363T>G | CA361706243 | SLC26A2 | c.770T>G (p.Val257Gly) c.372+2012T>G (n.372+2012T>G) | |
| 5 | g.149980364C>A | CA447402095 | SLC26A2 | c.771C>A (p.Val257=) c.372+2013C>A (n.372+2013C>A) | gnomAD v4 |
| 5 | g.149980364C>G | CA447402098 | SLC26A2 | c.771C>G (p.Val257=) c.372+2013C>G (n.372+2013C>G) | |
| 5 | g.149980364C>T | CA447402097 | SLC26A2 | c.771C>T (p.Val257=) c.372+2013C>T (n.372+2013C>T) | ClinVar dbSNP |
| 5 | g.149980365A>C | CA361706245 | SLC26A2 | c.772A>C (p.Thr258Pro) c.372+2014A>C (n.372+2014A>C) | gnomAD v4 |
| 5 | g.149980365A>G | CA361706246 | SLC26A2 | c.772A>G (p.Thr258Ala) c.372+2014A>G (n.372+2014A>G) | |
| 5 | g.149980365A>T | CA361706248 | SLC26A2 | c.772A>T (p.Thr258Ser) c.372+2014A>T (n.372+2014A>T) | |
| 5 | g.149980366C>A | CA361706251 | SLC26A2 | c.773C>A (p.Thr258Asn) c.372+2015C>A (n.372+2015C>A) | |
| 5 | g.149980366C>G | CA361706253 | SLC26A2 | c.773C>G (p.Thr258Ser) c.372+2015C>G (n.372+2015C>G) | |
| 5 | g.149980366C>T | CA361706255 | SLC26A2 | c.773C>T (p.Thr258Ile) c.372+2015C>T (n.372+2015C>T) | |
| 5 | g.149980367T>A | CA447402099 | SLC26A2 | c.774T>A (p.Thr258=) c.372+2016T>A (n.372+2016T>A) | gnomAD v3 gnomAD v4 |
| 5 | g.149980367T>C | CA447402100 | SLC26A2 | c.774T>C (p.Thr258=) c.372+2016T>C (n.372+2016T>C) | ClinVar dbSNP |
| 5 | g.149980367T>G | CA447402101 | SLC26A2 | c.774T>G (p.Thr258=) c.372+2016T>G (n.372+2016T>G) | |
| 5 | g.149980368G>A | CA361706257 | SLC26A2 | c.775G>A (p.Gly259Ser) c.372+2017G>A (n.372+2017G>A) | ClinVar dbSNP |
| 5 | g.149980368G>C | CA361706261 | SLC26A2 | c.775G>C (p.Gly259Arg) c.372+2017G>C (n.372+2017G>C) | |
| 5 | g.149980368G>T | CA361706259 | SLC26A2 | c.775G>T (p.Gly259Cys) c.372+2017G>T (n.372+2017G>T) | |
| 5 | g.149980369G>A | CA361706263 | SLC26A2 | c.776G>A (p.Gly259Asp) c.372+2018G>A (n.372+2018G>A) | dbSNP |
| 5 | g.149980369G>C | CA361706265 | SLC26A2 | c.776G>C (p.Gly259Ala) c.372+2018G>C (n.372+2018G>C) | |
| 5 | g.149980369G= | CA1590738330 | SLC26A2 | c.776G= (p.Gly259=) c.372+2018G= (n.372+2018G=) | |
| 5 | g.149980369G>T | CA3505319 | SLC26A2 | c.776G>T (p.Gly259Val) c.372+2018G>T (n.372+2018G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980370T>A | CA447402103 | SLC26A2 | c.777T>A (p.Gly259=) c.372+2019T>A (n.372+2019T>A) | |
| 5 | g.149980370T>C | CA447402104 | SLC26A2 | c.777T>C (p.Gly259=) c.372+2019T>C (n.372+2019T>C) | |
| 5 | g.149980370T>G | CA447402105 | SLC26A2 | c.777T>G (p.Gly259=) c.372+2019T>G (n.372+2019T>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980371G>A | CA361706268 | SLC26A2 | c.778G>A (p.Ala260Thr) c.372+2020G>A (n.372+2020G>A) | |
| 5 | g.149980371G>C | CA361706270 | SLC26A2 | c.778G>C (p.Ala260Pro) c.372+2020G>C (n.372+2020G>C) | |
| 5 | g.149980371G>T | CA361706272 | SLC26A2 | c.778G>T (p.Ala260Ser) c.372+2020G>T (n.372+2020G>T) | gnomAD v4 |
| 5 | g.149980372C>A | CA361706275 | SLC26A2 | c.779C>A (p.Ala260Asp) c.372+2021C>A (n.372+2021C>A) | |
| 5 | g.149980372C= | CA1590738331 | SLC26A2 | c.779C= (p.Ala260=) c.372+2021C= (n.372+2021C=) | |
| 5 | g.149980372C>G | CA361706277 | SLC26A2 | c.779C>G (p.Ala260Gly) c.372+2021C>G (n.372+2021C>G) | gnomAD v4 |
| 5 | g.149980372C>T | CA3505320 | SLC26A2 | c.779C>T (p.Ala260Val) c.372+2021C>T (n.372+2021C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.149980373C>A | CA447402106 | SLC26A2 | c.780C>A (p.Ala260=) c.372+2022C>A (n.372+2022C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980373C= | CA1590738332 | SLC26A2 | c.780C= (p.Ala260=) c.372+2022C= (n.372+2022C=) | |
| 5 | g.149980373C>G | CA447402107 | SLC26A2 | c.780C>G (p.Ala260=) c.372+2022C>G (n.372+2022C>G) | |
| 5 | g.149980373C>T | CA447402109 | SLC26A2 | c.780C>T (p.Ala260=) c.372+2022C>T (n.372+2022C>T) | |
| 5 | g.149980374T>A | CA361706283 | SLC26A2 | c.781T>A (p.Ser261Thr) c.372+2023T>A (n.372+2023T>A) | dbSNP |
| 5 | g.149980374T>C | CA361706285 | SLC26A2 | c.781T>C (p.Ser261Pro) c.372+2023T>C (n.372+2023T>C) | |
| 5 | g.149980374T>G | CA361706281 | SLC26A2 | c.781T>G (p.Ser261Ala) c.372+2023T>G (n.372+2023T>G) | |
| 5 | g.149980374T= | CA1590738333 | SLC26A2 | c.781T= (p.Ser261=) c.372+2023T= (n.372+2023T=) | |
| 5 | g.149980375C>A | CA361706286 | SLC26A2 | c.782C>A (p.Ser261Tyr) c.372+2024C>A (n.372+2024C>A) | |
| 5 | g.149980375C= | CA1590738334 | SLC26A2 | c.782C= (p.Ser261=) c.372+2024C= (n.372+2024C=) | |
| 5 | g.149980375C>G | CA3505321 | SLC26A2 | c.782C>G (p.Ser261Cys) c.372+2024C>G (n.372+2024C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980375C>T | CA361706287 | SLC26A2 | c.782C>T (p.Ser261Phe) c.372+2024C>T (n.372+2024C>T) | |
| 5 | g.149980376C>A | CA447402112 | SLC26A2 | c.783C>A (p.Ser261=) c.372+2025C>A (n.372+2025C>A) | |
| 5 | g.149980376C>G | CA447402113 | SLC26A2 | c.783C>G (p.Ser261=) c.372+2025C>G (n.372+2025C>G) | |
| 5 | g.149980376C>T | CA447402114 | SLC26A2 | c.783C>T (p.Ser261=) c.372+2025C>T (n.372+2025C>T) | gnomAD v4 |
| 5 | g.149980377T>A | CA361706288 | SLC26A2 | c.784T>A (p.Phe262Ile) c.372+2026T>A (n.372+2026T>A) | |
| 5 | g.149980377T>C | CA361706289 | SLC26A2 | c.784T>C (p.Phe262Leu) c.372+2026T>C (n.372+2026T>C) | |
| 5 | g.149980377T>G | CA361706290 | SLC26A2 | c.784T>G (p.Phe262Val) c.372+2026T>G (n.372+2026T>G) | |
| 5 | g.149980378T>A | CA361706291 | SLC26A2 | c.785T>A (p.Phe262Tyr) c.372+2027T>A (n.372+2027T>A) | |
| 5 | g.149980378T>C | CA361706292 | SLC26A2 | c.785T>C (p.Phe262Ser) c.372+2027T>C (n.372+2027T>C) | |
| 5 | g.149980378T>G | CA361706293 | SLC26A2 | c.785T>G (p.Phe262Cys) c.372+2027T>G (n.372+2027T>G) | |
| 5 | g.149980379C>A | CA361706294 | SLC26A2 | c.786C>A (p.Phe262Leu) c.372+2028C>A (n.372+2028C>A) | |
| 5 | g.149980379C= | CA1590738335 | SLC26A2 | c.786C= (p.Phe262=) c.372+2028C= (n.372+2028C=) | |
| 5 | g.149980379C>G | CA361706295 | SLC26A2 | c.786C>G (p.Phe262Leu) c.372+2028C>G (n.372+2028C>G) | |
| 5 | g.149980379C>T | CA447402118 | SLC26A2 | c.786C>T (p.Phe262=) c.372+2028C>T (n.372+2028C>T) | ClinVar dbSNP |
| 5 | g.149980380A>C | CA361706298 | SLC26A2 | c.787A>C (p.Thr263Pro) c.372+2029A>C (n.372+2029A>C) | |
| 5 | g.149980380A>G | CA361706297 | SLC26A2 | c.787A>G (p.Thr263Ala) c.372+2029A>G (n.372+2029A>G) | gnomAD v4 |
| 5 | g.149980380A>T | CA361706296 | SLC26A2 | c.787A>T (p.Thr263Ser) c.372+2029A>T (n.372+2029A>T) | |
| 5 | g.149980381C>A | CA361706299 | SLC26A2 | c.788C>A (p.Thr263Asn) c.372+2030C>A (n.372+2030C>A) | |
| 5 | g.149980381C= | CA1590738336 | SLC26A2 | c.788C= (p.Thr263=) c.372+2030C= (n.372+2030C=) | |
| 5 | g.149980381C>G | CA361706300 | SLC26A2 | c.788C>G (p.Thr263Ser) c.372+2030C>G (n.372+2030C>G) | dbSNP |
| 5 | g.149980381C>T | CA361706301 | SLC26A2 | c.788C>T (p.Thr263Ile) c.372+2030C>T (n.372+2030C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980382T>A | CA447402120 | SLC26A2 | c.789T>A (p.Thr263=) c.372+2031T>A (n.372+2031T>A) | |
| 5 | g.149980382T>C | CA447402121 | SLC26A2 | c.789T>C (p.Thr263=) c.372+2031T>C (n.372+2031T>C) | |
| 5 | g.149980382T>G | CA447402122 | SLC26A2 | c.789T>G (p.Thr263=) c.372+2031T>G (n.372+2031T>G) | |
| 5 | g.149980383A= | CA1590738337 | SLC26A2 | c.790A= (p.Ile264=) c.372+2032A= (n.372+2032A=) | |
| 5 | g.149980383A>C | CA361706302 | SLC26A2 | c.790A>C (p.Ile264Leu) c.372+2032A>C (n.372+2032A>C) | |
| 5 | g.149980383A>G | CA129083756 | SLC26A2 | c.790A>G (p.Ile264Val) c.372+2032A>G (n.372+2032A>G) | dbSNP gnomAD v4 |
| 5 | g.149980383A>T | CA361706303 | SLC26A2 | c.790A>T (p.Ile264Phe) c.372+2032A>T (n.372+2032A>T) | |
| 5 | g.149980384T>A | CA361706304 | SLC26A2 | c.791T>A (p.Ile264Asn) c.372+2033T>A (n.372+2033T>A) | |
| 5 | g.149980384T>C | CA361706305 | SLC26A2 | c.791T>C (p.Ile264Thr) c.372+2033T>C (n.372+2033T>C) | |
| 5 | g.149980384T>G | CA361706306 | SLC26A2 | c.791T>G (p.Ile264Ser) c.372+2033T>G (n.372+2033T>G) | |
| 5 | g.149980385T>A | CA447402124 | SLC26A2 | c.792T>A (p.Ile264=) c.372+2034T>A (n.372+2034T>A) | |
| 5 | g.149980385T>C | CA447402125 | SLC26A2 | c.792T>C (p.Ile264=) c.372+2034T>C (n.372+2034T>C) | |
| 5 | g.149980385T>G | CA361706307 | SLC26A2 | c.792T>G (p.Ile264Met) c.372+2034T>G (n.372+2034T>G) | dbSNP |
| 5 | g.149980385T= | CA1590738338 | SLC26A2 | c.792T= (p.Ile264=) c.372+2034T= (n.372+2034T=) | |
| 5 | g.149980386C>A | CA361706308 | SLC26A2 | c.793C>A (p.Leu265Ile) c.372+2035C>A (n.372+2035C>A) | |
| 5 | g.149980386C= | CA1590738339 | SLC26A2 | c.793C= (p.Leu265=) c.372+2035C= (n.372+2035C=) | |
| 5 | g.149980386C>G | CA361706309 | SLC26A2 | c.793C>G (p.Leu265Val) c.372+2035C>G (n.372+2035C>G) | gnomAD v4 |
| 5 | g.149980386C>T | CA10623451 | SLC26A2 | c.793C>T (p.Leu265Phe) c.372+2035C>T (n.372+2035C>T) | ClinVar dbSNP |
| 5 | g.149980387T>A | CA361706311 | SLC26A2 | c.794T>A (p.Leu265His) c.372+2036T>A (n.372+2036T>A) | |
| 5 | g.149980387T>C | CA361706312 | SLC26A2 | c.794T>C (p.Leu265Pro) c.372+2036T>C (n.372+2036T>C) | |
| 5 | g.149980387T>G | CA361706310 | SLC26A2 | c.794T>G (p.Leu265Arg) c.372+2036T>G (n.372+2036T>G) | |
| 5 | g.149980388T>A | CA447402129 | SLC26A2 | c.795T>A (p.Leu265=) c.372+2037T>A (n.372+2037T>A) | |
| 5 | g.149980388T>C | CA447402130 | SLC26A2 | c.795T>C (p.Leu265=) c.372+2037T>C (n.372+2037T>C) | ClinVar |
| 5 | g.149980388T>G | CA447402131 | SLC26A2 | c.795T>G (p.Leu265=) c.372+2037T>G (n.372+2037T>G) | dbSNP |
| 5 | g.149980388T= | CA1590738340 | SLC26A2 | c.795T= (p.Leu265=) c.372+2037T= (n.372+2037T=) | |
| 5 | g.149980389A>C | CA361706313 | SLC26A2 | c.796A>C (p.Thr266Pro) c.372+2038A>C (n.372+2038A>C) | |
| 5 | g.149980389A>G | CA361706314 | SLC26A2 | c.796A>G (p.Thr266Ala) c.372+2038A>G (n.372+2038A>G) | |
| 5 | g.149980389A>T | CA361706315 | SLC26A2 | c.796A>T (p.Thr266Ser) c.372+2038A>T (n.372+2038A>T) | |
| 5 | g.149980389dup | CA3505322 | SLC26A2 | c.796dup (p.Thr266AsnfsTer16) c.372+2038dup (n.372+2038dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980390C>A | CA361706316 | SLC26A2 | c.797C>A (p.Thr266Lys) c.372+2039C>A (n.372+2039C>A) | |
| 5 | g.149980390C= | CA1590738341 | SLC26A2 | c.797C= (p.Thr266=) c.372+2039C= (n.372+2039C=) | |
| 5 | g.149980390C>G | CA361706317 | SLC26A2 | c.797C>G (p.Thr266Arg) c.372+2039C>G (n.372+2039C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980390C>T | CA3505323 | SLC26A2 | c.797C>T (p.Thr266Ile) c.372+2039C>T (n.372+2039C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980391A= | CA1590738342 | SLC26A2 | c.798A= (p.Thr266=) c.372+2040A= (n.372+2040A=) | |
| 5 | g.149980391A>C | CA3505324 | SLC26A2 | c.798A>C (p.Thr266=) c.372+2040A>C (n.372+2040A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980391A>G | CA3505325 | SLC26A2 | c.798A>G (p.Thr266=) c.372+2040A>G (n.372+2040A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980391A>T | CA447402132 | SLC26A2 | c.798A>T (p.Thr266=) c.372+2040A>T (n.372+2040A>T) | |
| 5 | g.149980392T>A | CA361706318 | SLC26A2 | c.799T>A (p.Ser267Thr) c.372+2041T>A (n.372+2041T>A) | COSMIC |
| 5 | g.149980392T>C | CA361706319 | SLC26A2 | c.799T>C (p.Ser267Pro) c.372+2041T>C (n.372+2041T>C) | |
| 5 | g.149980392T>G | CA361706320 | SLC26A2 | c.799T>G (p.Ser267Ala) c.372+2041T>G (n.372+2041T>G) | |
| 5 | g.149980393C>A | CA361706321 | SLC26A2 | c.800C>A (p.Ser267Tyr) c.372+2042C>A (n.372+2042C>A) | |
| 5 | g.149980393C>G | CA361706322 | SLC26A2 | c.800C>G (p.Ser267Cys) c.372+2042C>G (n.372+2042C>G) | |
| 5 | g.149980393C>T | CA361706323 | SLC26A2 | c.800C>T (p.Ser267Phe) c.372+2042C>T (n.372+2042C>T) | |
| 5 | g.149980394T>A | CA447402138 | SLC26A2 | c.801T>A (p.Ser267=) c.372+2043T>A (n.372+2043T>A) | |
| 5 | g.149980394T>C | CA447402134 | SLC26A2 | c.801T>C (p.Ser267=) c.372+2043T>C (n.372+2043T>C) | dbSNP |
| 5 | g.149980394T>G | CA447402136 | SLC26A2 | c.801T>G (p.Ser267=) c.372+2043T>G (n.372+2043T>G) | |
| 5 | g.149980394T= | CA1590738343 | SLC26A2 | c.801T= (p.Ser267=) c.372+2043T= (n.372+2043T=) | |
| 5 | g.149980395C>A | CA361706324 | SLC26A2 | c.802C>A (p.Gln268Lys) c.372+2044C>A (n.372+2044C>A) | |
| 5 | g.149980395C>G | CA361706326 | SLC26A2 | c.802C>G (p.Gln268Glu) c.372+2044C>G (n.372+2044C>G) | |
| 5 | g.149980395C>T | CA361706325 | SLC26A2 | c.802C>T (p.Gln268Ter) c.372+2044C>T (n.372+2044C>T) | |
| 5 | g.149980396A>C | CA361706327 | SLC26A2 | c.803A>C (p.Gln268Pro) c.372+2045A>C (n.372+2045A>C) | gnomAD v4 |
| 5 | g.149980396A>G | CA361706328 | SLC26A2 | c.803A>G (p.Gln268Arg) c.372+2045A>G (n.372+2045A>G) | |
| 5 | g.149980396A>T | CA361706329 | SLC26A2 | c.803A>T (p.Gln268Leu) c.372+2045A>T (n.372+2045A>T) | |
| 5 | g.149980397G>A | CA447402139 | SLC26A2 | c.804G>A (p.Gln268=) c.372+2046G>A (n.372+2046G>A) | |
| 5 | g.149980397G>C | CA361706330 | SLC26A2 | c.804G>C (p.Gln268His) c.372+2046G>C (n.372+2046G>C) | |
| 5 | g.149980397G>T | CA361706331 | SLC26A2 | c.804G>T (p.Gln268His) c.372+2046G>T (n.372+2046G>T) | |
| 5 | g.149980398G>A | CA361706332 | SLC26A2 | c.805G>A (p.Ala269Thr) c.372+2047G>A (n.372+2047G>A) | gnomAD v4 |
| 5 | g.149980398G>C | CA361706333 | SLC26A2 | c.805G>C (p.Ala269Pro) c.372+2047G>C (n.372+2047G>C) | |
| 5 | g.149980398G>T | CA361706334 | SLC26A2 | c.805G>T (p.Ala269Ser) c.372+2047G>T (n.372+2047G>T) | |
| 5 | g.149980399C>A | CA361706335 | SLC26A2 | c.806C>A (p.Ala269Asp) c.372+2048C>A (n.372+2048C>A) | |
| 5 | g.149980399C>G | CA361706336 | SLC26A2 | c.806C>G (p.Ala269Gly) c.372+2048C>G (n.372+2048C>G) | gnomAD v4 |
| 5 | g.149980399C>T | CA361706337 | SLC26A2 | c.806C>T (p.Ala269Val) c.372+2048C>T (n.372+2048C>T) | |
| 5 | g.149980400dup | CA2695198770 | SLC26A2 | c.807dup (p.Lys270GlnfsTer12) c.372+2049dup (n.372+2049dup) | ClinVar |
| 5 | g.149980400C>A | CA447402141 | SLC26A2 | c.807C>A (p.Ala269=) c.372+2049C>A (n.372+2049C>A) | |
| 5 | g.149980400C= | CA1590738344 | SLC26A2 | c.807C= (p.Ala269=) c.372+2049C= (n.372+2049C=) | |
| 5 | g.149980400C>G | CA447402140 | SLC26A2 | c.807C>G (p.Ala269=) c.372+2049C>G (n.372+2049C>G) | |
| 5 | g.149980400C>T | CA3505326 | SLC26A2 | c.807C>T (p.Ala269=) c.372+2049C>T (n.372+2049C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980401A>C | CA361706340 | SLC26A2 | c.808A>C (p.Lys270Gln) c.372+2050A>C (n.372+2050A>C) | |
| 5 | g.149980401A>G | CA361706338 | SLC26A2 | c.808A>G (p.Lys270Glu) c.372+2050A>G (n.372+2050A>G) | |
| 5 | g.149980401A>T | CA361706339 | SLC26A2 | c.808A>T (p.Lys270Ter) c.372+2050A>T (n.372+2050A>T) | |
| 5 | g.149980402A>C | CA361706341 | SLC26A2 | c.809A>C (p.Lys270Thr) c.372+2051A>C (n.372+2051A>C) | |
| 5 | g.149980402A>G | CA361706342 | SLC26A2 | c.809A>G (p.Lys270Arg) c.372+2051A>G (n.372+2051A>G) | |
| 5 | g.149980402A>T | CA361706343 | SLC26A2 | c.809A>T (p.Lys270Met) c.372+2051A>T (n.372+2051A>T) | |
| 5 | g.149980403G>A | CA3505327 | SLC26A2 | c.810G>A (p.Lys270=) c.372+2052G>A (n.372+2052G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980403G>C | CA361706344 | SLC26A2 | c.810G>C (p.Lys270Asn) c.372+2052G>C (n.372+2052G>C) | |
| 5 | g.149980403G= | CA1590738345 | SLC26A2 | c.810G= (p.Lys270=) c.372+2052G= (n.372+2052G=) | |
| 5 | g.149980403G>T | CA361706345 | SLC26A2 | c.810G>T (p.Lys270Asn) c.372+2052G>T (n.372+2052G>T) | |
| 5 | g.149980404T>A | CA361706346 | SLC26A2 | c.811T>A (p.Tyr271Asn) c.372+2053T>A (n.372+2053T>A) | |
| 5 | g.149980404T>C | CA361706347 | SLC26A2 | c.811T>C (p.Tyr271His) c.372+2053T>C (n.372+2053T>C) | |
| 5 | g.149980404T>G | CA361706348 | SLC26A2 | c.811T>G (p.Tyr271Asp) c.372+2053T>G (n.372+2053T>G) | |
| 5 | g.149980405A>C | CA361706349 | SLC26A2 | c.812A>C (p.Tyr271Ser) c.372+2054A>C (n.372+2054A>C) | |
| 5 | g.149980405A>G | CA361706350 | SLC26A2 | c.812A>G (p.Tyr271Cys) c.372+2054A>G (n.372+2054A>G) | gnomAD v4 |
| 5 | g.149980405A>T | CA361706351 | SLC26A2 | c.812A>T (p.Tyr271Phe) c.372+2054A>T (n.372+2054A>T) | |
| 5 | g.149980406T>A | CA361706352 | SLC26A2 | c.813T>A (p.Tyr271Ter) c.372+2055T>A (n.372+2055T>A) | |
| 5 | g.149980406T>C | CA447402146 | SLC26A2 | c.813T>C (p.Tyr271=) c.372+2055T>C (n.372+2055T>C) | |
| 5 | g.149980406T>G | CA361706353 | SLC26A2 | c.813T>G (p.Tyr271Ter) c.372+2055T>G (n.372+2055T>G) | gnomAD v4 |
| 5 | g.149980407C>A | CA361706354 | SLC26A2 | c.814C>A (p.Leu272Ile) c.372+2056C>A (n.372+2056C>A) | |
| 5 | g.149980407C= | CA1590738346 | SLC26A2 | c.814C= (p.Leu272=) c.372+2056C= (n.372+2056C=) | |
| 5 | g.149980407C>G | CA361706355 | SLC26A2 | c.814C>G (p.Leu272Val) c.372+2056C>G (n.372+2056C>G) | |
| 5 | g.149980407C>T | CA129083779 | SLC26A2 | c.814C>T (p.Leu272Phe) c.372+2056C>T (n.372+2056C>T) | dbSNP |
| 5 | g.149980408T>A | CA361706356 | SLC26A2 | c.815T>A (p.Leu272His) c.372+2057T>A (n.372+2057T>A) | |
| 5 | g.149980408T>C | CA361706357 | SLC26A2 | c.815T>C (p.Leu272Pro) c.372+2057T>C (n.372+2057T>C) | |
| 5 | g.149980408T>G | CA361706358 | SLC26A2 | c.815T>G (p.Leu272Arg) c.372+2057T>G (n.372+2057T>G) | dbSNP gnomAD v4 |
| 5 | g.149980408T= | CA1590738347 | SLC26A2 | c.815T= (p.Leu272=) c.372+2057T= (n.372+2057T=) | |
| 5 | g.149980409T>A | CA447402150 | SLC26A2 | c.816T>A (p.Leu272=) c.372+2058T>A (n.372+2058T>A) | |
| 5 | g.149980409T>C | CA447402151 | SLC26A2 | c.816T>C (p.Leu272=) c.372+2058T>C (n.372+2058T>C) | |
| 5 | g.149980409T>G | CA447402152 | SLC26A2 | c.816T>G (p.Leu272=) c.372+2058T>G (n.372+2058T>G) | |
| 5 | g.149980410C>A | CA361706359 | SLC26A2 | c.817C>A (p.Leu273Ile) c.372+2059C>A (n.372+2059C>A) | COSMIC |
| 5 | g.149980410C>G | CA361706360 | SLC26A2 | c.817C>G (p.Leu273Val) c.372+2059C>G (n.372+2059C>G) | |
| 5 | g.149980410C>T | CA361706361 | SLC26A2 | c.817C>T (p.Leu273Phe) c.372+2059C>T (n.372+2059C>T) | |
| 5 | g.149980410_149980411delinsCT | CA1590738348 | SLC26A2 | c.817_818delinsCT (p.Leu273=) c.372+2059_372+2060delinsCT (n.372+2059_372+2060delinsCT) | |
| 5 | g.149980411T>A | CA361706362 | SLC26A2 | c.818T>A (p.Leu273His) c.372+2060T>A (n.372+2060T>A) | |
| 5 | g.149980411T>C | CA361706363 | SLC26A2 | c.818T>C (p.Leu273Pro) c.372+2060T>C (n.372+2060T>C) | |
| 5 | g.149980411T>G | CA361706364 | SLC26A2 | c.818T>G (p.Leu273Arg) c.372+2060T>G (n.372+2060T>G) | |
| 5 | g.149980412del | CA3505328 | SLC26A2 | c.819del (p.Leu275SerfsTer?) c.372+2061del (n.372+2061del) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149980412T>A | CA447402154 | SLC26A2 | c.819T>A (p.Leu273=) c.372+2061T>A (n.372+2061T>A) | |
| 5 | g.149980412T>C | CA447402155 | SLC26A2 | c.819T>C (p.Leu273=) c.372+2061T>C (n.372+2061T>C) | gnomAD v4 |
| 5 | g.149980412T>G | CA447402156 | SLC26A2 | c.819T>G (p.Leu273=) c.372+2061T>G (n.372+2061T>G) | |
| 5 | g.149980413G>A | CA361706366 | SLC26A2 | c.820G>A (p.Gly274Arg) c.372+2062G>A (n.372+2062G>A) | |
| 5 | g.149980413G>C | CA361706367 | SLC26A2 | c.820G>C (p.Gly274Arg) c.372+2062G>C (n.372+2062G>C) | |
| 5 | g.149980413G>T | CA361706365 | SLC26A2 | c.820G>T (p.Gly274Trp) c.372+2062G>T (n.372+2062G>T) | |
| 5 | g.149980415del | CA2695198771 | SLC26A2 | c.822del (p.Leu275SerfsTer?) c.372+2064del (n.372+2064del) | ClinVar |
| 5 | g.149980414G>A | CA361706369 | SLC26A2 | c.821G>A (p.Gly274Glu) c.372+2063G>A (n.372+2063G>A) | |
| 5 | g.149980414G>C | CA361706368 | SLC26A2 | c.821G>C (p.Gly274Ala) c.372+2063G>C (n.372+2063G>C) | |
| 5 | g.149980414G>T | CA361706370 | SLC26A2 | c.821G>T (p.Gly274Val) c.372+2063G>T (n.372+2063G>T) | |
| 5 | g.149980415G>A | CA447402161 | SLC26A2 | c.822G>A (p.Gly274=) c.372+2064G>A (n.372+2064G>A) | |
| 5 | g.149980415G>C | CA447402159 | SLC26A2 | c.822G>C (p.Gly274=) c.372+2064G>C (n.372+2064G>C) | |
| 5 | g.149980415G>T | CA447402157 | SLC26A2 | c.822G>T (p.Gly274=) c.372+2064G>T (n.372+2064G>T) | gnomAD v4 |
| 5 | g.149980416C>A | CA361706371 | SLC26A2 | c.823C>A (p.Leu275Ile) c.372+2065C>A (n.372+2065C>A) | gnomAD v4 |
| 5 | g.149980416C= | CA1590738349 | SLC26A2 | c.823C= (p.Leu275=) c.372+2065C= (n.372+2065C=) | |
| 5 | g.149980416C>G | CA361706372 | SLC26A2 | c.823C>G (p.Leu275Val) c.372+2065C>G (n.372+2065C>G) | dbSNP |
| 5 | g.149980416C>T | CA3505329 | SLC26A2 | c.823C>T (p.Leu275Phe) c.372+2065C>T (n.372+2065C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |