| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |