| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980428C>A | CA447402178 | SLC26A2 | c.835C>A (p.Arg279=) c.372+2077C>A (n.372+2077C>A) | ClinVar |
| 5 | g.149980428C= | CA1139771935 | SLC26A2 | c.835C= (p.Arg279=) c.372+2077C= (n.372+2077C=) | |
| 5 | g.149980428C>G | CA361706393 | SLC26A2 | c.835C>G (p.Arg279Gly) c.372+2077C>G (n.372+2077C>G) | |
| 5 | g.149980428C>T | CA252990 | SLC26A2 | c.835C>T (p.Arg279Trp) c.372+2077C>T (n.372+2077C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>A | CA3505333 | SLC26A2 | c.836G>A (p.Arg279Gln) c.372+2078G>A (n.372+2078G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980429G>C | CA361706395 | SLC26A2 | c.836G>C (p.Arg279Pro) c.372+2078G>C (n.372+2078G>C) | ClinVar dbSNP |
| 5 | g.149980429G= | CA1590738355 | SLC26A2 | c.836G= (p.Arg279=) c.372+2078G= (n.372+2078G=) | |
| 5 | g.149980429G>T | CA361706394 | SLC26A2 | c.836G>T (p.Arg279Leu) c.372+2078G>T (n.372+2078G>T) | |
| 5 | g.149980430G>A | CA447402179 | SLC26A2 | c.837G>A (p.Arg279=) c.372+2079G>A (n.372+2079G>A) | |
| 5 | g.149980430G>C | CA447402180 | SLC26A2 | c.837G>C (p.Arg279=) c.372+2079G>C (n.372+2079G>C) | |
| 5 | g.149980430G= | CA1590738356 | SLC26A2 | c.837G= (p.Arg279=) c.372+2079G= (n.372+2079G=) | |
| 5 | g.149980430G>T | CA447402181 | SLC26A2 | c.837G>T (p.Arg279=) c.372+2079G>T (n.372+2079G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980431A>C | CA361706396 | SLC26A2 | c.838A>C (p.Thr280Pro) c.372+2080A>C (n.372+2080A>C) | |
| 5 | g.149980431A>G | CA361706397 | SLC26A2 | c.838A>G (p.Thr280Ala) c.372+2080A>G (n.372+2080A>G) | |
| 5 | g.149980431A>T | CA361706398 | SLC26A2 | c.838A>T (p.Thr280Ser) c.372+2080A>T (n.372+2080A>T) | |
| 5 | g.149980435_149980458del | CA2573139274 | SLC26A2 | c.842_865del (p.Asn281_Thr288del) c.372+2084_372+2107del (n.372+2084_372+2107del) | ClinVar dbSNP |
| 5 | g.149980432C>A | CA361706399 | SLC26A2 | c.839C>A (p.Thr280Asn) c.372+2081C>A (n.372+2081C>A) | |
| 5 | g.149980432C= | CA1590738357 | SLC26A2 | c.839C= (p.Thr280=) c.372+2081C= (n.372+2081C=) | |
| 5 | g.149980432C>G | CA361706400 | SLC26A2 | c.839C>G (p.Thr280Ser) c.372+2081C>G (n.372+2081C>G) | |
| 5 | g.149980432C>T | CA361706401 | SLC26A2 | c.839C>T (p.Thr280Ile) c.372+2081C>T (n.372+2081C>T) | dbSNP gnomAD v4 |
| 5 | g.149980433T>A | CA447402183 | SLC26A2 | c.840T>A (p.Thr280=) c.372+2082T>A (n.372+2082T>A) | |
| 5 | g.149980433T>C | CA447402184 | SLC26A2 | c.840T>C (p.Thr280=) c.372+2082T>C (n.372+2082T>C) | |
| 5 | g.149980433T>G | CA447402185 | SLC26A2 | c.840T>G (p.Thr280=) c.372+2082T>G (n.372+2082T>G) | |
| 5 | g.149980433dup | CA2580073910 | SLC26A2 | c.840dup (p.Asn281Ter) c.372+2082dup (n.372+2082dup) | ClinVar |
| 5 | g.149980434A= | CA1590738358 | SLC26A2 | c.841A= (p.Asn281=) c.372+2083A= (n.372+2083A=) | |
| 5 | g.149980434A>C | CA361706402 | SLC26A2 | c.841A>C (p.Asn281His) c.372+2083A>C (n.372+2083A>C) | ClinVar dbSNP |
| 5 | g.149980434A>G | CA361706403 | SLC26A2 | c.841A>G (p.Asn281Asp) c.372+2083A>G (n.372+2083A>G) | gnomAD v4 |
| 5 | g.149980434A>T | CA361706404 | SLC26A2 | c.841A>T (p.Asn281Tyr) c.372+2083A>T (n.372+2083A>T) | |
| 5 | g.149980435A= | CA1590738359 | SLC26A2 | c.842A= (p.Asn281=) c.372+2084A= (n.372+2084A=) | |
| 5 | g.149980435A>C | CA361706405 | SLC26A2 | c.842A>C (p.Asn281Thr) c.372+2084A>C (n.372+2084A>C) | |
| 5 | g.149980435A>G | CA129083824 | SLC26A2 | c.842A>G (p.Asn281Ser) c.372+2084A>G (n.372+2084A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980435A>T | CA361706406 | SLC26A2 | c.842A>T (p.Asn281Ile) c.372+2084A>T (n.372+2084A>T) | |
| 5 | g.149980436T>A | CA361706408 | SLC26A2 | c.843T>A (p.Asn281Lys) c.372+2085T>A (n.372+2085T>A) | |
| 5 | g.149980436T>C | CA447402187 | SLC26A2 | c.843T>C (p.Asn281=) c.372+2085T>C (n.372+2085T>C) | dbSNP |
| 5 | g.149980436T>G | CA361706407 | SLC26A2 | c.843T>G (p.Asn281Lys) c.372+2085T>G (n.372+2085T>G) | |
| 5 | g.149980436T= | CA1590738360 | SLC26A2 | c.843T= (p.Asn281=) c.372+2085T= (n.372+2085T=) | |
| 5 | g.149980437G>A | CA361706409 | SLC26A2 | c.844G>A (p.Gly282Ser) c.372+2086G>A (n.372+2086G>A) | |
| 5 | g.149980437G>C | CA3505334 | SLC26A2 | c.844G>C (p.Gly282Arg) c.372+2086G>C (n.372+2086G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980437G= | CA1590738361 | SLC26A2 | c.844G= (p.Gly282=) c.372+2086G= (n.372+2086G=) | |
| 5 | g.149980437G>T | CA129083833 | SLC26A2 | c.844G>T (p.Gly282Cys) c.372+2086G>T (n.372+2086G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980438G>A | CA361706410 | SLC26A2 | c.845G>A (p.Gly282Asp) c.372+2087G>A (n.372+2087G>A) | gnomAD v4 |
| 5 | g.149980438G>C | CA361706411 | SLC26A2 | c.845G>C (p.Gly282Ala) c.372+2087G>C (n.372+2087G>C) | |
| 5 | g.149980438G= | CA1590738362 | SLC26A2 | c.845G= (p.Gly282=) c.372+2087G= (n.372+2087G=) | |
| 5 | g.149980438G>T | CA361706412 | SLC26A2 | c.845G>T (p.Gly282Val) c.372+2087G>T (n.372+2087G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980439T>A | CA447402193 | SLC26A2 | c.846T>A (p.Gly282=) c.372+2088T>A (n.372+2088T>A) | |
| 5 | g.149980439T>C | CA447402195 | SLC26A2 | c.846T>C (p.Gly282=) c.372+2088T>C (n.372+2088T>C) | ClinVar |
| 5 | g.149980439T>G | CA447402196 | SLC26A2 | c.846T>G (p.Gly282=) c.372+2088T>G (n.372+2088T>G) | gnomAD v4 |
| 5 | g.149980440G>A | CA361706413 | SLC26A2 | c.847G>A (p.Val283Met) c.372+2089G>A (n.372+2089G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980440G>C | CA361706414 | SLC26A2 | c.847G>C (p.Val283Leu) c.372+2089G>C (n.372+2089G>C) | |
| 5 | g.149980440G= | CA1590738363 | SLC26A2 | c.847G= (p.Val283=) c.372+2089G= (n.372+2089G=) |