| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980325_149980329delinsTTCTG | CA1590738312 | SLC26A2 | c.732_736delinsTTCTG (p.Val244=) c.372+1974_372+1978delinsTTCTG (n.372+1974_372+1978delinsTTCTG) | |
| 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.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=) |