| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977809A>C | CA447401786 | SLC26A2 | n.389A>C c.157A>C (p.Arg53=) | |
| 5 | g.149977809A>G | CA361704187 | SLC26A2 | n.389A>G c.157A>G (p.Arg53Gly) | gnomAD v4 |
| 5 | g.149977809A>T | CA361704188 | SLC26A2 | n.389A>T c.157A>T (p.Arg53Trp) | |
| 5 | g.149977810G>A | CA3505211 | SLC26A2 | n.390G>A c.158G>A (p.Arg53Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977810G>C | CA361704189 | SLC26A2 | n.390G>C c.158G>C (p.Arg53Thr) | |
| 5 | g.149977810G= | CA1590737299 | SLC26A2 | n.390G= c.158G= (p.Arg53=) | |
| 5 | g.149977810G>T | CA361704191 | SLC26A2 | n.390G>T c.158G>T (p.Arg53Met) | |
| 5 | g.149977811G>A | CA3505212 | SLC26A2 | n.391G>A c.159G>A (p.Arg53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977811G>C | CA129082259 | SLC26A2 | n.391G>C c.159G>C (p.Arg53Ser) | dbSNP |
| 5 | g.149977811G= | CA1590737300 | SLC26A2 | n.391G= c.159G= (p.Arg53=) | |
| 5 | g.149977811G>T | CA361704193 | SLC26A2 | n.391G>T c.159G>T (p.Arg53Ser) | |
| 5 | g.149977812A>C | CA361704195 | SLC26A2 | n.392A>C c.160A>C (p.Ile54Leu) | |
| 5 | g.149977812A>G | CA361704196 | SLC26A2 | n.392A>G c.160A>G (p.Ile54Val) | |
| 5 | g.149977812A>T | CA361704198 | SLC26A2 | n.392A>T c.160A>T (p.Ile54Phe) | |
| 5 | g.149977813T>A | CA361704200 | SLC26A2 | n.393T>A c.161T>A (p.Ile54Asn) | |
| 5 | g.149977813T>C | CA361704201 | SLC26A2 | n.393T>C c.161T>C (p.Ile54Thr) | |
| 5 | g.149977813T>G | CA361704203 | SLC26A2 | n.393T>G c.161T>G (p.Ile54Ser) | |
| 5 | g.149977814C>A | CA447401787 | SLC26A2 | n.394C>A c.162C>A (p.Ile54=) | |
| 5 | g.149977814C>G | CA361704205 | SLC26A2 | n.394C>G c.162C>G (p.Ile54Met) | |
| 5 | g.149977814C>T | CA447401788 | SLC26A2 | n.394C>T c.162C>T (p.Ile54=) | ClinVar gnomAD v4 |
| 5 | g.149977815C>A | CA361704207 | SLC26A2 | n.395C>A c.163C>A (p.Leu55Ile) | |
| 5 | g.149977815C>G | CA361704208 | SLC26A2 | n.395C>G c.163C>G (p.Leu55Val) | |
| 5 | g.149977815C>T | CA361704210 | SLC26A2 | n.395C>T c.163C>T (p.Leu55Phe) | |
| 5 | g.149977816T>A | CA361704214 | SLC26A2 | n.396T>A c.164T>A (p.Leu55His) | |
| 5 | g.149977816T>C | CA361704213 | SLC26A2 | n.396T>C c.164T>C (p.Leu55Pro) | |
| 5 | g.149977816T>G | CA361704211 | SLC26A2 | n.396T>G c.164T>G (p.Leu55Arg) | |
| 5 | g.149977816T= | CA1590737301 | SLC26A2 | n.396T= c.164T= (p.Leu55=) | |
| 5 | g.149977817T>A | CA447401790 | SLC26A2 | n.397T>A c.165T>A (p.Leu55=) | |
| 5 | g.149977817T>C | CA447401791 | SLC26A2 | n.397T>C c.165T>C (p.Leu55=) | ClinVar |
| 5 | g.149977817T>G | CA447401789 | SLC26A2 | n.397T>G c.165T>G (p.Leu55=) | |
| 5 | g.149977817_149977818insCT | CA3505213 | SLC26A2 | n.397_398insCT c.165_166insCT (p.Ile56LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977818A= | CA1590737302 | SLC26A2 | n.398A= c.166A= (p.Ile56=) | |
| 5 | g.149977818A>C | CA3505214 | SLC26A2 | n.398A>C c.166A>C (p.Ile56Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977818A>G | CA361704217 | SLC26A2 | n.398A>G c.166A>G (p.Ile56Val) | |
| 5 | g.149977818A>T | CA361704219 | SLC26A2 | n.398A>T c.166A>T (p.Ile56Phe) | |
| 5 | g.149977819T>A | CA361704220 | SLC26A2 | n.399T>A c.167T>A (p.Ile56Asn) | |
| 5 | g.149977819T>C | CA361704221 | SLC26A2 | n.399T>C c.167T>C (p.Ile56Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977819T>G | CA361704223 | SLC26A2 | n.399T>G c.167T>G (p.Ile56Ser) | |
| 5 | g.149977819T= | CA1590737303 | SLC26A2 | n.399T= c.167T= (p.Ile56=) | |
| 5 | g.149977820T>A | CA447401793 | SLC26A2 | n.400T>A c.168T>A (p.Ile56=) | |
| 5 | g.149977820T>C | CA447401792 | SLC26A2 | n.400T>C c.168T>C (p.Ile56=) | |
| 5 | g.149977820T>G | CA361704225 | SLC26A2 | n.400T>G c.168T>G (p.Ile56Met) | |
| 5 | g.149977821G>A | CA361704227 | SLC26A2 | n.401G>A c.169G>A (p.Glu57Lys) | |
| 5 | g.149977821G>C | CA361704228 | SLC26A2 | n.401G>C c.169G>C (p.Glu57Gln) | |
| 5 | g.149977821G>T | CA361704230 | SLC26A2 | n.401G>T c.169G>T (p.Glu57Ter) | gnomAD v4 |
| 5 | g.149977822A>C | CA361704232 | SLC26A2 | n.402A>C c.170A>C (p.Glu57Ala) | |
| 5 | g.149977822A>G | CA361704234 | SLC26A2 | n.402A>G c.170A>G (p.Glu57Gly) | gnomAD v4 |
| 5 | g.149977822A>T | CA361704235 | SLC26A2 | n.402A>T c.170A>T (p.Glu57Val) | |
| 5 | g.149977823G>A | CA447401794 | SLC26A2 | n.403G>A c.171G>A (p.Glu57=) | ClinVar dbSNP |
| 5 | g.149977823G>C | CA361704239 | SLC26A2 | n.403G>C c.171G>C (p.Glu57Asp) | |
| 5 | g.149977823G>T | CA361704237 | SLC26A2 | n.403G>T c.171G>T (p.Glu57Asp) | |
| 5 | g.149977824C>A | CA361704241 | SLC26A2 | n.404C>A c.172C>A (p.Arg58Ser) | |
| 5 | g.149977824C= | CA1590737304 | SLC26A2 | n.404C= c.172C= (p.Arg58=) | |
| 5 | g.149977824C>G | CA3505215 | SLC26A2 | n.404C>G c.172C>G (p.Arg58Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977824C>T | CA216019 | SLC26A2 | n.404C>T c.172C>T (p.Arg58Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149977825G>A | CA3505216 | SLC26A2 | n.405G>A c.173G>A (p.Arg58His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977825G>C | CA361704245 | SLC26A2 | n.405G>C c.173G>C (p.Arg58Pro) | |
| 5 | g.149977825G= | CA1590737305 | SLC26A2 | n.405G= c.173G= (p.Arg58=) | |
| 5 | g.149977825G>T | CA361704246 | SLC26A2 | n.405G>T c.173G>T (p.Arg58Leu) | |
| 5 | g.149977826T>A | CA447401795 | SLC26A2 | n.406T>A c.174T>A (p.Arg58=) | |
| 5 | g.149977826T>C | CA447401796 | SLC26A2 | n.406T>C c.174T>C (p.Arg58=) | |
| 5 | g.149977826T>G | CA447401797 | SLC26A2 | n.406T>G c.174T>G (p.Arg58=) | |
| 5 | g.149977827C>A | CA361704251 | SLC26A2 | n.407C>A c.175C>A (p.Gln59Lys) | |
| 5 | g.149977827C>G | CA361704248 | SLC26A2 | n.407C>G c.175C>G (p.Gln59Glu) | |
| 5 | g.149977827C>T | CA361704250 | SLC26A2 | n.407C>T c.175C>T (p.Gln59Ter) | |
| 5 | g.149977828A>C | CA361704254 | SLC26A2 | n.408A>C c.176A>C (p.Gln59Pro) | |
| 5 | g.149977828A>G | CA361704255 | SLC26A2 | n.408A>G c.176A>G (p.Gln59Arg) | |
| 5 | g.149977828A>T | CA361704256 | SLC26A2 | n.408A>T c.176A>T (p.Gln59Leu) | |
| 5 | g.149977828_149977829del | CA2675943462 | SLC26A2 | n.408_409del c.176_177del (p.Gln59ArgfsTer13) | gnomAD v4 |
| 5 | g.149977829A>C | CA361704257 | SLC26A2 | n.409A>C c.177A>C (p.Gln59His) | |
| 5 | g.149977829A>G | CA447401798 | SLC26A2 | n.409A>G c.177A>G (p.Gln59=) | ClinVar dbSNP |
| 5 | g.149977829A>T | CA361704259 | SLC26A2 | n.409A>T c.177A>T (p.Gln59His) | |
| 5 | g.149977830G>A | CA361704263 | SLC26A2 | n.410G>A c.178G>A (p.Glu60Lys) | |
| 5 | g.149977830G>C | CA361704261 | SLC26A2 | n.410G>C c.178G>C (p.Glu60Gln) | |
| 5 | g.149977830G>T | CA361704262 | SLC26A2 | n.410G>T c.178G>T (p.Glu60Ter) | |
| 5 | g.149977831A>C | CA361704264 | SLC26A2 | n.411A>C c.179A>C (p.Glu60Ala) | |
| 5 | g.149977831A>G | CA361704265 | SLC26A2 | n.411A>G c.179A>G (p.Glu60Gly) | |
| 5 | g.149977831A>T | CA361704267 | SLC26A2 | n.411A>T c.179A>T (p.Glu60Val) | |
| 5 | g.149977832G>A | CA447401799 | SLC26A2 | n.412G>A c.180G>A (p.Glu60=) | |
| 5 | g.149977832G>C | CA361704269 | SLC26A2 | n.412G>C c.180G>C (p.Glu60Asp) | |
| 5 | g.149977832G>T | CA361704270 | SLC26A2 | n.412G>T c.180G>T (p.Glu60Asp) | gnomAD v4 COSMIC |
| 5 | g.149977833A>C | CA361704272 | SLC26A2 | n.413A>C c.181A>C (p.Lys61Gln) | |
| 5 | g.149977833A>G | CA361704274 | SLC26A2 | n.413A>G c.181A>G (p.Lys61Glu) | |
| 5 | g.149977833A>T | CA361704275 | SLC26A2 | n.413A>T c.181A>T (p.Lys61Ter) | |
| 5 | g.149977834A>C | CA361704276 | SLC26A2 | n.414A>C c.182A>C (p.Lys61Thr) | |
| 5 | g.149977834A>G | CA361704277 | SLC26A2 | n.414A>G c.182A>G (p.Lys61Arg) | |
| 5 | g.149977834A>T | CA361704279 | SLC26A2 | n.414A>T c.182A>T (p.Lys61Ile) | |
| 5 | g.149977835A>C | CA361704281 | SLC26A2 | n.415A>C c.183A>C (p.Lys61Asn) | |
| 5 | g.149977835A>G | CA447401800 | SLC26A2 | n.415A>G c.183A>G (p.Lys61=) | |
| 5 | g.149977835A>T | CA361704282 | SLC26A2 | n.415A>T c.183A>T (p.Lys61Asn) | |
| 5 | g.149977836T>A | CA361704287 | SLC26A2 | n.416T>A c.184T>A (p.Ser62Thr) | |
| 5 | g.149977836T>C | CA361704283 | SLC26A2 | n.416T>C c.184T>C (p.Ser62Pro) | |
| 5 | g.149977836T>G | CA361704285 | SLC26A2 | n.416T>G c.184T>G (p.Ser62Ala) | |
| 5 | g.149977837C>A | CA361704288 | SLC26A2 | n.417C>A c.185C>A (p.Ser62Ter) | |
| 5 | g.149977837C= | CA1590737306 | SLC26A2 | n.417C= c.185C= (p.Ser62=) | |
| 5 | g.149977837C>G | CA16040984 | SLC26A2 | n.417C>G c.185C>G (p.Ser62Ter) | ClinVar dbSNP |
| 5 | g.149977837C>T | CA361704291 | SLC26A2 | n.417C>T c.185C>T (p.Ser62Leu) | gnomAD v4 |
| 5 | g.149977838A= | CA1590737307 | SLC26A2 | n.418A= c.186A= (p.Ser62=) | |
| 5 | g.149977838A>C | CA447401803 | SLC26A2 | n.418A>C c.186A>C (p.Ser62=) | |
| 5 | g.149977838A>G | CA447401802 | SLC26A2 | n.418A>G c.186A>G (p.Ser62=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977838A>T | CA447401801 | SLC26A2 | n.418A>T c.186A>T (p.Ser62=) | |
| 5 | g.149977839G>A | CA361704293 | SLC26A2 | n.419G>A c.187G>A (p.Asp63Asn) | |
| 5 | g.149977839G>C | CA361704294 | SLC26A2 | n.419G>C c.187G>C (p.Asp63His) | gnomAD v4 |
| 5 | g.149977839G>T | CA361704296 | SLC26A2 | n.419G>T c.187G>T (p.Asp63Tyr) | |
| 5 | g.149977839_149977840delinsGA | CA1590737308 | SLC26A2 | n.419_420delinsGA c.187_188delinsGA (p.Asp63=) | |
| 5 | g.149977840del | CA16040985 | SLC26A2 | n.420del c.188del (p.Asp63ValfsTer26) | ClinVar dbSNP |
| 5 | g.149977840A= | CA1590737309 | SLC26A2 | n.420A= c.188A= (p.Asp63=) | |
| 5 | g.149977840A>C | CA361704298 | SLC26A2 | n.420A>C c.188A>C (p.Asp63Ala) | |
| 5 | g.149977840A>G | CA361704300 | SLC26A2 | n.420A>G c.188A>G (p.Asp63Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977840A>T | CA361704301 | SLC26A2 | n.420A>T c.188A>T (p.Asp63Val) | dbSNP |
| 5 | g.149977841T>A | CA361704303 | SLC26A2 | n.421T>A c.189T>A (p.Asp63Glu) | |
| 5 | g.149977841T>C | CA447401804 | SLC26A2 | n.421T>C c.189T>C (p.Asp63=) | dbSNP |
| 5 | g.149977841T>G | CA361704305 | SLC26A2 | n.421T>G c.189T>G (p.Asp63Glu) | |
| 5 | g.149977842A>C | CA361704307 | SLC26A2 | n.422A>C c.190A>C (p.Thr64Pro) | |
| 5 | g.149977842A>G | CA361704309 | SLC26A2 | n.422A>G c.190A>G (p.Thr64Ala) | |
| 5 | g.149977842A>T | CA361704308 | SLC26A2 | n.422A>T c.190A>T (p.Thr64Ser) | |
| 5 | g.149977843C>A | CA361704310 | SLC26A2 | n.423C>A c.191C>A (p.Thr64Lys) | |
| 5 | g.149977843C= | CA1590737310 | SLC26A2 | n.423C= c.191C= (p.Thr64=) | |
| 5 | g.149977843C>G | CA361704314 | SLC26A2 | n.423C>G c.191C>G (p.Thr64Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977843C>T | CA361704312 | SLC26A2 | n.423C>T c.191C>T (p.Thr64Ile) | |
| 5 | g.149977844A>C | CA447401805 | SLC26A2 | n.424A>C c.192A>C (p.Thr64=) | |
| 5 | g.149977844A>G | CA447401806 | SLC26A2 | n.424A>G c.192A>G (p.Thr64=) | |
| 5 | g.149977844A>T | CA447401807 | SLC26A2 | n.424A>T c.192A>T (p.Thr64=) | |
| 5 | g.149977845A= | CA1590737311 | SLC26A2 | n.425A= c.193A= (p.Asn65=) | |
| 5 | g.149977845A>C | CA361704315 | SLC26A2 | n.425A>C c.193A>C (p.Asn65His) | |
| 5 | g.149977845A>G | CA3505217 | SLC26A2 | n.425A>G c.193A>G (p.Asn65Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977845A>T | CA361704318 | SLC26A2 | n.425A>T c.193A>T (p.Asn65Tyr) | |
| 5 | g.149977846A>C | CA361704319 | SLC26A2 | n.426A>C c.194A>C (p.Asn65Thr) | |
| 5 | g.149977846A>G | CA361704321 | SLC26A2 | n.426A>G c.194A>G (p.Asn65Ser) | |
| 5 | g.149977846A>T | CA361704322 | SLC26A2 | n.426A>T c.194A>T (p.Asn65Ile) | |
| 5 | g.149977847C>A | CA361704325 | SLC26A2 | n.427C>A c.195C>A (p.Asn65Lys) | |
| 5 | g.149977847C>G | CA361704326 | SLC26A2 | n.427C>G c.195C>G (p.Asn65Lys) | |
| 5 | g.149977847C>T | CA447401808 | SLC26A2 | n.427C>T c.195C>T (p.Asn65=) | |
| 5 | g.149977848T>A | CA361704327 | SLC26A2 | n.428T>A c.196T>A (p.Phe66Ile) | |
| 5 | g.149977848T>C | CA3505218 | SLC26A2 | n.428T>C c.196T>C (p.Phe66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977848T>G | CA361704329 | SLC26A2 | n.428T>G c.196T>G (p.Phe66Val) | gnomAD v4 |
| 5 | g.149977848T= | CA1590737312 | SLC26A2 | n.428T= c.196T= (p.Phe66=) | |
| 5 | g.149977849T>A | CA361704333 | SLC26A2 | n.429T>A c.197T>A (p.Phe66Tyr) | |
| 5 | g.149977849T>C | CA361704331 | SLC26A2 | n.429T>C c.197T>C (p.Phe66Ser) | |
| 5 | g.149977849T>G | CA361704332 | SLC26A2 | n.429T>G c.197T>G (p.Phe66Cys) | |
| 5 | g.149977850C>A | CA361704334 | SLC26A2 | n.430C>A c.198C>A (p.Phe66Leu) | |
| 5 | g.149977850C>G | CA361704336 | SLC26A2 | n.430C>G c.198C>G (p.Phe66Leu) | |
| 5 | g.149977850C>T | CA447401809 | SLC26A2 | n.430C>T c.198C>T (p.Phe66=) | |
| 5 | g.149977851A= | CA1590737313 | SLC26A2 | n.431A= c.199A= (p.Lys67=) | |
| 5 | g.149977851A>C | CA361704338 | SLC26A2 | n.431A>C c.199A>C (p.Lys67Gln) | ClinVar gnomAD v4 |
| 5 | g.149977851A>G | CA361704339 | SLC26A2 | n.431A>G c.199A>G (p.Lys67Glu) | |
| 5 | g.149977851A>T | CA3505219 | SLC26A2 | n.431A>T c.199A>T (p.Lys67Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977852A>C | CA361704342 | SLC26A2 | n.432A>C c.200A>C (p.Lys67Thr) | |
| 5 | g.149977852A>G | CA361704343 | SLC26A2 | n.432A>G c.200A>G (p.Lys67Arg) | |
| 5 | g.149977852A>T | CA361704345 | SLC26A2 | n.432A>T c.200A>T (p.Lys67Met) | |
| 5 | g.149977853G>A | CA447401810 | SLC26A2 | n.433G>A c.201G>A (p.Lys67=) | |
| 5 | g.149977853G>C | CA361704346 | SLC26A2 | n.433G>C c.201G>C (p.Lys67Asn) | |
| 5 | g.149977853G>T | CA361704348 | SLC26A2 | n.433G>T c.201G>T (p.Lys67Asn) | |
| 5 | g.149977854G>A | CA3505220 | SLC26A2 | n.434G>A c.202G>A (p.Glu68Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977854G>C | CA361704352 | SLC26A2 | n.434G>C c.202G>C (p.Glu68Gln) | |
| 5 | g.149977854G= | CA1590737314 | SLC26A2 | n.434G= c.202G= (p.Glu68=) | |
| 5 | g.149977854G>T | CA361704350 | SLC26A2 | n.434G>T c.202G>T (p.Glu68Ter) | |
| 5 | g.149977855A>C | CA361704354 | SLC26A2 | n.435A>C c.203A>C (p.Glu68Ala) | |
| 5 | g.149977855A>G | CA361704356 | SLC26A2 | n.435A>G c.203A>G (p.Glu68Gly) | |
| 5 | g.149977855A>T | CA361704357 | SLC26A2 | n.435A>T c.203A>T (p.Glu68Val) | |
| 5 | g.149977856G>A | CA3505221 | SLC26A2 | n.436G>A c.204G>A (p.Glu68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977856G>C | CA361704359 | SLC26A2 | n.436G>C c.204G>C (p.Glu68Asp) | |
| 5 | g.149977856G= | CA1590737315 | SLC26A2 | n.436G= c.204G= (p.Glu68=) | |
| 5 | g.149977856G>T | CA361704361 | SLC26A2 | n.436G>T c.204G>T (p.Glu68Asp) | |
| 5 | g.149977856_149977857delinsGT | CA1590737316 | SLC26A2 | n.436_437delinsGT c.204_205delinsGT (p.Glu68=) | |
| 5 | g.149977857T>A | CA361704365 | SLC26A2 | n.437T>A c.205T>A (p.Phe69Ile) | |
| 5 | g.149977857T>C | CA361704366 | SLC26A2 | n.437T>C c.205T>C (p.Phe69Leu) | ClinVar gnomAD v4 |
| 5 | g.149977857T>G | CA361704364 | SLC26A2 | n.437T>G c.205T>G (p.Phe69Val) | |
| 5 | g.149977859del | CA16040986 | SLC26A2 | n.439del c.207del (p.Phe69LeufsTer20) | ClinVar dbSNP |
| 5 | g.149977858T>A | CA361704368 | SLC26A2 | n.438T>A c.206T>A (p.Phe69Tyr) | |
| 5 | g.149977858T>C | CA361704369 | SLC26A2 | n.438T>C c.206T>C (p.Phe69Ser) | |
| 5 | g.149977858T>G | CA361704371 | SLC26A2 | n.438T>G c.206T>G (p.Phe69Cys) | |
| 5 | g.149977859T>A | CA361704372 | SLC26A2 | n.439T>A c.207T>A (p.Phe69Leu) | |
| 5 | g.149977859T>C | CA447401811 | SLC26A2 | n.439T>C c.207T>C (p.Phe69=) | |
| 5 | g.149977859T>G | CA361704374 | SLC26A2 | n.439T>G c.207T>G (p.Phe69Leu) | |
| 5 | g.149977860G>A | CA361704375 | SLC26A2 | n.440G>A c.208G>A (p.Val70Ile) | |
| 5 | g.149977860G>C | CA361704377 | SLC26A2 | n.440G>C c.208G>C (p.Val70Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977860G= | CA1590737317 | SLC26A2 | n.440G= c.208G= (p.Val70=) | |
| 5 | g.149977860G>T | CA361704379 | SLC26A2 | n.440G>T c.208G>T (p.Val70Phe) | |
| 5 | g.149977861T>A | CA361704382 | SLC26A2 | n.441T>A c.209T>A (p.Val70Asp) | |
| 5 | g.149977861T>C | CA129082299 | SLC26A2 | n.441T>C c.209T>C (p.Val70Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977861T>G | CA361704381 | SLC26A2 | n.441T>G c.209T>G (p.Val70Gly) | |
| 5 | g.149977861T= | CA1590737318 | SLC26A2 | n.441T= c.209T= (p.Val70=) | |
| 5 | g.149977862T>A | CA447401814 | SLC26A2 | n.442T>A c.210T>A (p.Val70=) | ClinVar dbSNP |
| 5 | g.149977862T>C | CA447401812 | SLC26A2 | n.442T>C c.210T>C (p.Val70=) | |
| 5 | g.149977862T>G | CA447401813 | SLC26A2 | n.442T>G c.210T>G (p.Val70=) | |
| 5 | g.149977863A>C | CA361704383 | SLC26A2 | n.443A>C c.211A>C (p.Ile71Leu) | |
| 5 | g.149977863A>G | CA361704385 | SLC26A2 | n.443A>G c.211A>G (p.Ile71Val) | |
| 5 | g.149977863A>T | CA361704386 | SLC26A2 | n.443A>T c.211A>T (p.Ile71Phe) | |
| 5 | g.149977864T>A | CA361704388 | SLC26A2 | n.444T>A c.212T>A (p.Ile71Asn) | |
| 5 | g.149977864T>C | CA129082300 | SLC26A2 | n.444T>C c.212T>C (p.Ile71Thr) | dbSNP gnomAD v4 |
| 5 | g.149977864T>G | CA361704390 | SLC26A2 | n.444T>G c.212T>G (p.Ile71Ser) | |
| 5 | g.149977864T= | CA1590737319 | SLC26A2 | n.444T= c.212T= (p.Ile71=) | |
| 5 | g.149977865T>A | CA447401815 | SLC26A2 | n.445T>A c.213T>A (p.Ile71=) | |
| 5 | g.149977865T>C | CA447401816 | SLC26A2 | n.445T>C c.213T>C (p.Ile71=) | |
| 5 | g.149977865T>G | CA361704392 | SLC26A2 | n.445T>G c.213T>G (p.Ile71Met) | |
| 5 | g.149977866A= | CA1590737320 | SLC26A2 | n.446A= c.214A= (p.Lys72=) | |
| 5 | g.149977866A>C | CA361704397 | SLC26A2 | n.446A>C c.214A>C (p.Lys72Gln) | gnomAD v4 |
| 5 | g.149977866A>G | CA361704396 | SLC26A2 | n.446A>G c.214A>G (p.Lys72Glu) | |
| 5 | g.149977866A>T | CA361704394 | SLC26A2 | n.446A>T c.214A>T (p.Lys72Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977870del | CA2573139273 | SLC26A2 | n.450del c.218del (p.Lys73SerfsTer16) | ClinVar dbSNP |
| 5 | g.149977867A>C | CA361704398 | SLC26A2 | n.447A>C c.215A>C (p.Lys72Thr) | |
| 5 | g.149977867A>G | CA361704400 | SLC26A2 | n.447A>G c.215A>G (p.Lys72Arg) | |
| 5 | g.149977867A>T | CA361704401 | SLC26A2 | n.447A>T c.215A>T (p.Lys72Ile) | |
| 5 | g.149977868A= | CA1590737321 | SLC26A2 | n.448A= c.216A= (p.Lys72=) | |
| 5 | g.149977868A>C | CA361704403 | SLC26A2 | n.448A>C c.216A>C (p.Lys72Asn) | |
| 5 | g.149977868A>G | CA447401817 | SLC26A2 | n.448A>G c.216A>G (p.Lys72=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977868A>T | CA361704405 | SLC26A2 | n.448A>T c.216A>T (p.Lys72Asn) | |
| 5 | g.149977869A>C | CA361704407 | SLC26A2 | n.449A>C c.217A>C (p.Lys73Gln) | |
| 5 | g.149977869A>G | CA361704408 | SLC26A2 | n.449A>G c.217A>G (p.Lys73Glu) | |
| 5 | g.149977869A>T | CA361704410 | SLC26A2 | n.449A>T c.217A>T (p.Lys73Ter) | |
| 5 | g.149977870A>C | CA361704412 | SLC26A2 | n.450A>C c.218A>C (p.Lys73Thr) | |
| 5 | g.149977870A>G | CA361704414 | SLC26A2 | n.450A>G c.218A>G (p.Lys73Arg) | |
| 5 | g.149977870A>T | CA361704413 | SLC26A2 | n.450A>T c.218A>T (p.Lys73Met) | |
| 5 | g.149977871G>A | CA447401818 | SLC26A2 | n.451G>A c.219G>A (p.Lys73=) | gnomAD v4 |
| 5 | g.149977871G>C | CA361704416 | SLC26A2 | n.451G>C c.219G>C (p.Lys73Asn) | |
| 5 | g.149977871G>T | CA361704418 | SLC26A2 | n.451G>T c.219G>T (p.Lys73Asn) | |
| 5 | g.149977872C>A | CA361704419 | SLC26A2 | n.452C>A c.220C>A (p.Leu74Met) | |
| 5 | g.149977872C>G | CA361704420 | SLC26A2 | n.452C>G c.220C>G (p.Leu74Val) | |
| 5 | g.149977872C>T | CA447401819 | SLC26A2 | n.452C>T c.220C>T (p.Leu74=) | |
| 5 | g.149977873T>A | CA361704422 | SLC26A2 | n.453T>A c.221T>A (p.Leu74Gln) | |
| 5 | g.149977873T>C | CA361704426 | SLC26A2 | n.453T>C c.221T>C (p.Leu74Pro) | |
| 5 | g.149977873T>G | CA361704424 | SLC26A2 | n.453T>G c.221T>G (p.Leu74Arg) | dbSNP |
| 5 | g.149977873T= | CA1590737322 | SLC26A2 | n.453T= c.221T= (p.Leu74=) | |
| 5 | g.149977874G>A | CA3505222 | SLC26A2 | n.454G>A c.222G>A (p.Leu74=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977874G>C | CA447401820 | SLC26A2 | n.454G>C c.222G>C (p.Leu74=) | |
| 5 | g.149977874G= | CA1590737323 | SLC26A2 | n.454G= c.222G= (p.Leu74=) | |
| 5 | g.149977874G>T | CA447401821 | SLC26A2 | n.454G>T c.222G>T (p.Leu74=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977875_149977877dup | CA2675943463 | SLC26A2 | n.455_457dup c.223_225dup (p.Gln75_Lys76insGln) | gnomAD v4 |
| 5 | g.149977875C>A | CA361704428 | SLC26A2 | n.455C>A c.223C>A (p.Gln75Lys) | |
| 5 | g.149977875C>G | CA361704430 | SLC26A2 | n.455C>G c.223C>G (p.Gln75Glu) | |
| 5 | g.149977875C>T | CA361704431 | SLC26A2 | n.455C>T c.223C>T (p.Gln75Ter) | gnomAD v4 |
| 5 | g.149977875_149977878delinsCAGA | CA1590737324 | SLC26A2 | n.455_458delinsCAGA c.223_226delinsCAGA (p.Gln75=) | |
| 5 | g.149977876A>C | CA361704432 | SLC26A2 | n.456A>C c.224A>C (p.Gln75Pro) | gnomAD v4 |
| 5 | g.149977876A>G | CA361704434 | SLC26A2 | n.456A>G c.224A>G (p.Gln75Arg) | |
| 5 | g.149977876A>T | CA361704436 | SLC26A2 | n.456A>T c.224A>T (p.Gln75Leu) | |
| 5 | g.149977880_149977882del | CA563955677 | SLC26A2 | n.460_462del c.228_230del (p.Lys76del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977877G>A | CA447401822 | SLC26A2 | n.457G>A c.225G>A (p.Gln75=) | dbSNP |
| 5 | g.149977877G>C | CA361704437 | SLC26A2 | n.457G>C c.225G>C (p.Gln75His) | COSMIC |
| 5 | g.149977877G>T | CA361704438 | SLC26A2 | n.457G>T c.225G>T (p.Gln75His) | |
| 5 | g.149977878A>C | CA361704440 | SLC26A2 | n.458A>C c.226A>C (p.Lys76Gln) | gnomAD v4 |
| 5 | g.149977878A>G | CA361704442 | SLC26A2 | n.458A>G c.226A>G (p.Lys76Glu) | |
| 5 | g.149977878A>T | CA361704444 | SLC26A2 | n.458A>T c.226A>T (p.Lys76Ter) | gnomAD v4 |
| 5 | g.149977879A>C | CA361704449 | SLC26A2 | n.459A>C c.227A>C (p.Lys76Thr) | gnomAD v4 |
| 5 | g.149977879A>G | CA361704446 | SLC26A2 | n.459A>G c.227A>G (p.Lys76Arg) | |
| 5 | g.149977879A>T | CA361704447 | SLC26A2 | n.459A>T c.227A>T (p.Lys76Met) | |
| 5 | g.149977880G>A | CA447401823 | SLC26A2 | n.460G>A c.228G>A (p.Lys76=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977880G>C | CA361704450 | SLC26A2 | n.460G>C c.228G>C (p.Lys76Asn) | |
| 5 | g.149977880G>T | CA361704452 | SLC26A2 | n.460G>T c.228G>T (p.Lys76Asn) | |
| 5 | g.149977881A= | CA1590737325 | SLC26A2 | n.461A= c.229A= (p.Asn77=) | |
| 5 | g.149977881A>C | CA3505223 | SLC26A2 | n.461A>C c.229A>C (p.Asn77His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977881A>G | CA361704454 | SLC26A2 | n.461A>G c.229A>G (p.Asn77Asp) | |
| 5 | g.149977881A>T | CA361704455 | SLC26A2 | n.461A>T c.229A>T (p.Asn77Tyr) | |
| 5 | g.149977882A>C | CA361704457 | SLC26A2 | n.462A>C c.230A>C (p.Asn77Thr) | |
| 5 | g.149977882A>G | CA361704459 | SLC26A2 | n.462A>G c.230A>G (p.Asn77Ser) | |
| 5 | g.149977882A>T | CA361704461 | SLC26A2 | n.462A>T c.230A>T (p.Asn77Ile) | |
| 5 | g.149977883T>A | CA361704462 | SLC26A2 | n.463T>A c.231T>A (p.Asn77Lys) | |
| 5 | g.149977883T>C | CA447401824 | SLC26A2 | n.463T>C c.231T>C (p.Asn77=) | |
| 5 | g.149977883T>G | CA361704463 | SLC26A2 | n.463T>G c.231T>G (p.Asn77Lys) | |
| 5 | g.149977884T>A | CA361704465 | SLC26A2 | n.464T>A c.232T>A (p.Cys78Ser) | |
| 5 | g.149977884T>C | CA361704467 | SLC26A2 | n.464T>C c.232T>C (p.Cys78Arg) | |
| 5 | g.149977884T>G | CA361704469 | SLC26A2 | n.464T>G c.232T>G (p.Cys78Gly) | |
| 5 | g.149977885G>A | CA361704472 | SLC26A2 | n.465G>A c.233G>A (p.Cys78Tyr) | |
| 5 | g.149977885G>C | CA361704474 | SLC26A2 | n.465G>C c.233G>C (p.Cys78Ser) | |
| 5 | g.149977885G>T | CA361704470 | SLC26A2 | n.465G>T c.233G>T (p.Cys78Phe) | |
| 5 | g.149977886C>A | CA361704475 | SLC26A2 | n.466C>A c.234C>A (p.Cys78Ter) | |
| 5 | g.149977886C= | CA1590737326 | SLC26A2 | n.466C= c.234C= (p.Cys78=) | |
| 5 | g.149977886C>G | CA3505224 | SLC26A2 | n.466C>G c.234C>G (p.Cys78Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977886C>T | CA447401825 | SLC26A2 | n.466C>T c.234C>T (p.Cys78=) | |
| 5 | g.149977887C>A | CA361704479 | SLC26A2 | n.467C>A c.235C>A (p.Gln79Lys) | |
| 5 | g.149977887C= | CA1590737327 | SLC26A2 | n.467C= c.235C= (p.Gln79=) | |
| 5 | g.149977887C>G | CA361704480 | SLC26A2 | n.467C>G c.235C>G (p.Gln79Glu) | |
| 5 | g.149977887C>T | CA361704482 | SLC26A2 | n.467C>T c.235C>T (p.Gln79Ter) | ClinVar dbSNP |
| 5 | g.149977891_149977895dup | CA16040987 | SLC26A2 | n.471_475dup c.239_243dup (p.Pro82AlafsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977888A>C | CA361704487 | SLC26A2 | n.468A>C c.236A>C (p.Gln79Pro) | |
| 5 | g.149977888A>G | CA361704484 | SLC26A2 | n.468A>G c.236A>G (p.Gln79Arg) | |
| 5 | g.149977888A>T | CA361704486 | SLC26A2 | n.468A>T c.236A>T (p.Gln79Leu) | |
| 5 | g.149977889G>A | CA447401826 | SLC26A2 | n.469G>A c.237G>A (p.Gln79=) | |
| 5 | g.149977889G>C | CA361704489 | SLC26A2 | n.469G>C c.237G>C (p.Gln79His) | gnomAD v4 |
| 5 | g.149977889G>T | CA361704490 | SLC26A2 | n.469G>T c.237G>T (p.Gln79His) | |
| 5 | g.149977890T>A | CA361704491 | SLC26A2 | n.470T>A c.238T>A (p.Cys80Ser) | |
| 5 | g.149977890T>C | CA361704493 | SLC26A2 | n.470T>C c.238T>C (p.Cys80Arg) | |
| 5 | g.149977890T>G | CA361704495 | SLC26A2 | n.470T>G c.238T>G (p.Cys80Gly) | |
| 5 | g.149977891G>A | CA361704500 | SLC26A2 | n.471G>A c.239G>A (p.Cys80Tyr) | gnomAD v4 |
| 5 | g.149977891G>C | CA361704497 | SLC26A2 | n.471G>C c.239G>C (p.Cys80Ser) | |
| 5 | g.149977891G>T | CA361704498 | SLC26A2 | n.471G>T c.239G>T (p.Cys80Phe) | |
| 5 | g.149977892C>A | CA361704504 | SLC26A2 | n.472C>A c.240C>A (p.Cys80Ter) | |
| 5 | g.149977892C>G | CA361704502 | SLC26A2 | n.472C>G c.240C>G (p.Cys80Trp) | |
| 5 | g.149977892C>T | CA447401827 | SLC26A2 | n.472C>T c.240C>T (p.Cys80=) | dbSNP |
| 5 | g.149977893del | CA2740094129 | SLC26A2 | n.473del c.241del (p.Ser81ValfsTer8) | ClinVar |
| 5 | g.149977893A>C | CA361704505 | SLC26A2 | n.473A>C c.241A>C (p.Ser81Arg) | |
| 5 | g.149977893A>G | CA361704507 | SLC26A2 | n.473A>G c.241A>G (p.Ser81Gly) | |
| 5 | g.149977893A>T | CA361704509 | SLC26A2 | n.473A>T c.241A>T (p.Ser81Cys) | |
| 5 | g.149977894G>A | CA361704510 | SLC26A2 | n.474G>A c.242G>A (p.Ser81Asn) | |
| 5 | g.149977894G>C | CA361704511 | SLC26A2 | n.474G>C c.242G>C (p.Ser81Thr) | |
| 5 | g.149977894G>T | CA361704512 | SLC26A2 | n.474G>T c.242G>T (p.Ser81Ile) | |
| 5 | g.149977895T>A | CA361704515 | SLC26A2 | n.475T>A c.243T>A (p.Ser81Arg) | |
| 5 | g.149977895T>C | CA447401828 | SLC26A2 | n.475T>C c.243T>C (p.Ser81=) | ClinVar gnomAD v4 |
| 5 | g.149977895T>G | CA361704513 | SLC26A2 | n.475T>G c.243T>G (p.Ser81Arg) | |
| 5 | g.149977896C>A | CA361704517 | SLC26A2 | n.476C>A c.244C>A (p.Pro82Thr) | |
| 5 | g.149977896C= | CA1590737328 | SLC26A2 | n.476C= c.244C= (p.Pro82=) | |
| 5 | g.149977896C>G | CA361704518 | SLC26A2 | n.476C>G c.244C>G (p.Pro82Ala) | |
| 5 | g.149977896C>T | CA361704519 | SLC26A2 | n.476C>T c.244C>T (p.Pro82Ser) | dbSNP |
| 5 | g.149977897C>A | CA361704521 | SLC26A2 | n.477C>A c.245C>A (p.Pro82Gln) | |
| 5 | g.149977897C>G | CA361704523 | SLC26A2 | n.477C>G c.245C>G (p.Pro82Arg) | |
| 5 | g.149977897C>T | CA361704525 | SLC26A2 | n.477C>T c.245C>T (p.Pro82Leu) | |
| 5 | g.149977897_149977903del | CA913108439 | SLC26A2 | n.477_483del c.245_251del (p.Pro82GlnfsTer5) | |
| 5 | g.149977897_149977903delinsCAGCCAA | CA1590737329 | SLC26A2 | n.477_483delinsCAGCCAA c.245_251delinsCAGCCAA (p.Pro82=) | |
| 5 | g.149977898A= | CA1590737330 | SLC26A2 | n.478A= c.246A= (p.Pro82=) | |
| 5 | g.149977898A>C | CA447401829 | SLC26A2 | n.478A>C c.246A>C (p.Pro82=) | gnomAD v4 |
| 5 | g.149977898A>G | CA447401830 | SLC26A2 | n.478A>G c.246A>G (p.Pro82=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977898A>T | CA447401831 | SLC26A2 | n.478A>T c.246A>T (p.Pro82=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977905_149977910del | CA658822210 | SLC26A2 | n.485_490del c.253_258del (p.Ala85_Lys86del) | ClinVar dbSNP |
| 5 | g.149977899G>A | CA361704526 | SLC26A2 | n.479G>A c.247G>A (p.Ala83Thr) | gnomAD v4 |
| 5 | g.149977899G>C | CA361704529 | SLC26A2 | n.479G>C c.247G>C (p.Ala83Pro) | |
| 5 | g.149977899G>T | CA361704527 | SLC26A2 | n.479G>T c.247G>T (p.Ala83Ser) | |
| 5 | g.149977900C>A | CA361704531 | SLC26A2 | n.480C>A c.248C>A (p.Ala83Asp) | |
| 5 | g.149977900C>G | CA361704532 | SLC26A2 | n.480C>G c.248C>G (p.Ala83Gly) | gnomAD v4 |
| 5 | g.149977900C>T | CA361704533 | SLC26A2 | n.480C>T c.248C>T (p.Ala83Val) | |
| 5 | g.149977901C>A | CA447401832 | SLC26A2 | n.481C>A c.249C>A (p.Ala83=) | |
| 5 | g.149977901C>G | CA447401834 | SLC26A2 | n.481C>G c.249C>G (p.Ala83=) | gnomAD v4 |
| 5 | g.149977901C>T | CA447401833 | SLC26A2 | n.481C>T c.249C>T (p.Ala83=) | |
| 5 | g.149977902A>C | CA361704535 | SLC26A2 | n.482A>C c.250A>C (p.Lys84Gln) | |
| 5 | g.149977902A>G | CA361704537 | SLC26A2 | n.482A>G c.250A>G (p.Lys84Glu) | |
| 5 | g.149977902A>T | CA361704538 | SLC26A2 | n.482A>T c.250A>T (p.Lys84Ter) | |
| 5 | g.149977903A>C | CA361704540 | SLC26A2 | n.483A>C c.251A>C (p.Lys84Thr) | gnomAD v4 |
| 5 | g.149977903A>G | CA361704541 | SLC26A2 | n.483A>G c.251A>G (p.Lys84Arg) | |
| 5 | g.149977903A>T | CA361704543 | SLC26A2 | n.483A>T c.251A>T (p.Lys84Ile) | |
| 5 | g.149977904A>C | CA361704545 | SLC26A2 | n.484A>C c.252A>C (p.Lys84Asn) | |
| 5 | g.149977904A>G | CA447401835 | SLC26A2 | n.484A>G c.252A>G (p.Lys84=) | |
| 5 | g.149977904A>T | CA361704546 | SLC26A2 | n.484A>T c.252A>T (p.Lys84Asn) | |
| 5 | g.149977905G>A | CA361704548 | SLC26A2 | n.485G>A c.253G>A (p.Ala85Thr) | |
| 5 | g.149977905G>C | CA361704551 | SLC26A2 | n.485G>C c.253G>C (p.Ala85Pro) | |
| 5 | g.149977905G>T | CA361704550 | SLC26A2 | n.485G>T c.253G>T (p.Ala85Ser) | |
| 5 | g.149977905_149977906delinsGC | CA1590737331 | SLC26A2 | n.485_486delinsGC c.253_254delinsGC (p.Ala85=) | |
| 5 | g.149977906C>A | CA361704553 | SLC26A2 | n.486C>A c.254C>A (p.Ala85Asp) | |
| 5 | g.149977906C>G | CA361704555 | SLC26A2 | n.486C>G c.254C>G (p.Ala85Gly) | |
| 5 | g.149977906C>T | CA361704557 | SLC26A2 | n.486C>T c.254C>T (p.Ala85Val) | |
| 5 | g.149977907del | CA263259 | SLC26A2 | n.487del c.255del (p.Asn87IlefsTer2) | ClinVar dbSNP |
| 5 | g.149977907C>A | CA447401838 | SLC26A2 | n.487C>A c.255C>A (p.Ala85=) | ClinVar dbSNP |
| 5 | g.149977907C>G | CA447401836 | SLC26A2 | n.487C>G c.255C>G (p.Ala85=) | |
| 5 | g.149977907C>T | CA447401837 | SLC26A2 | n.487C>T c.255C>T (p.Ala85=) | |
| 5 | g.149977908A>C | CA361704559 | SLC26A2 | n.488A>C c.256A>C (p.Lys86Gln) | |
| 5 | g.149977908A>G | CA361704561 | SLC26A2 | n.488A>G c.256A>G (p.Lys86Glu) | |
| 5 | g.149977908A>T | CA361704563 | SLC26A2 | n.488A>T c.256A>T (p.Lys86Ter) | |
| 5 | g.149977909A>C | CA361704564 | SLC26A2 | n.489A>C c.257A>C (p.Lys86Thr) | |
| 5 | g.149977909A>G | CA361704566 | SLC26A2 | n.489A>G c.257A>G (p.Lys86Arg) | |
| 5 | g.149977909A>T | CA361704567 | SLC26A2 | n.489A>T c.257A>T (p.Lys86Ile) |