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 |
|---|---|---|---|---|---|
| 7 | g.107663291_107663293delinsGAC | CA1732735823 | SLC26A4 | c.165-5_165-3delinsGAC (n.165-5_165-3delinsGAC) | |
| 7 | g.107663292A>C | CA2739278712 | SLC26A4 | c.165-4A>C (n.165-4A>C) | ClinVar |
| 7 | g.107663292A>G | CA2580076138 | SLC26A4 | c.165-4A>G (n.165-4A>G) | ClinVar |
| 7 | g.107663293_107663294del | CA577029556 | SLC26A4 | c.165-3_165-2del (n.165-3_165-2del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663293C>A | CA1732735831 | SLC26A4 | c.165-3C>A (n.165-3C>A) | dbSNP |
| 7 | g.107663293C= | CA1732735829 | SLC26A4 | c.165-3C= (n.165-3C=) | |
| 7 | g.107663293C>G | CA577029557 | SLC26A4 | c.165-3C>G (n.165-3C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663294A= | CA1732735838 | SLC26A4 | c.165-2A= (n.165-2A=) | |
| 7 | g.107663294A>C | CA368845293 | SLC26A4 | c.165-2A>C (n.165-2A>C) | dbSNP |
| 7 | g.107663294A>G | CA273938 | SLC26A4 | c.165-2A>G (n.165-2A>G) | ClinVar dbSNP |
| 7 | g.107663294A>T | CA368845294 | SLC26A4 | c.165-2A>T (n.165-2A>T) | |
| 7 | g.107663295G>A | CA4432384 | SLC26A4 | c.165-1G>A (n.165-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663295G>C | CA368845295 | SLC26A4 | c.165-1G>C (n.165-1G>C) | |
| 7 | g.107663295G= | CA1732735844 | SLC26A4 | c.165-1G= (n.165-1G=) | |
| 7 | g.107663295G>T | CA368845296 | SLC26A4 | c.165-1G>T (n.165-1G>T) | |
| 7 | g.107663296T>A | CA368845297 | SLC26A4 | c.165T>A (p.Ser55Arg) | gnomAD v4 |
| 7 | g.107663296T>C | CA457104253 | SLC26A4 | c.165T>C (p.Ser55=) | dbSNP |
| 7 | g.107663296T>G | CA368845298 | SLC26A4 | c.165T>G (p.Ser55Arg) | |
| 7 | g.107663297T>A | CA368845301 | SLC26A4 | c.166T>A (p.Cys56Ser) | |
| 7 | g.107663297T>C | CA368845300 | SLC26A4 | c.166T>C (p.Cys56Arg) | |
| 7 | g.107663297T>G | CA368845299 | SLC26A4 | c.166T>G (p.Cys56Gly) | gnomAD v4 |
| 7 | g.107663298G>A | CA368845302 | SLC26A4 | c.167G>A (p.Cys56Tyr) | |
| 7 | g.107663298G>C | CA368845303 | SLC26A4 | c.167G>C (p.Cys56Ser) | |
| 7 | g.107663298G>T | CA368845304 | SLC26A4 | c.167G>T (p.Cys56Phe) | |
| 7 | g.107663299T>A | CA368845305 | SLC26A4 | c.168T>A (p.Cys56Ter) | |
| 7 | g.107663299T>C | CA457104254 | SLC26A4 | c.168T>C (p.Cys56=) | |
| 7 | g.107663299T>G | CA4432385 | SLC26A4 | c.168T>G (p.Cys56Trp) | dbSNP ExAC |
| 7 | g.107663299T= | CA1732735852 | SLC26A4 | c.168T= (p.Cys56=) | |
| 7 | g.107663300T>A | CA368845306 | SLC26A4 | c.169T>A (p.Ser57Thr) | |
| 7 | g.107663300T>C | CA368845307 | SLC26A4 | c.169T>C (p.Ser57Pro) | |
| 7 | g.107663300T>G | CA368845308 | SLC26A4 | c.169T>G (p.Ser57Ala) | |
| 7 | g.107663301C>A | CA4432386 | SLC26A4 | c.170C>A (p.Ser57Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663301C= | CA1732735862 | SLC26A4 | c.170C= (p.Ser57=) | |
| 7 | g.107663301C>G | CA261419 | SLC26A4 | c.170C>G (p.Ser57Ter) | ClinVar dbSNP |
| 7 | g.107663301C>T | CA368845309 | SLC26A4 | c.170C>T (p.Ser57Leu) | |
| 7 | g.107663302A= | CA1732735868 | SLC26A4 | c.171A= (p.Ser57=) | |
| 7 | g.107663302A>C | CA164208973 | SLC26A4 | c.171A>C (p.Ser57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107663302A>G | CA457104255 | SLC26A4 | c.171A>G (p.Ser57=) | gnomAD v4 |
| 7 | g.107663302A>T | CA457104256 | SLC26A4 | c.171A>T (p.Ser57=) | |
| 7 | g.107663303A>C | CA457104257 | SLC26A4 | c.172A>C (p.Arg58=) | |
| 7 | g.107663303A>G | CA368845310 | SLC26A4 | c.172A>G (p.Arg58Gly) | |
| 7 | g.107663303A>T | CA368845311 | SLC26A4 | c.172A>T (p.Arg58Ter) | |
| 7 | g.107663304G>A | CA368845313 | SLC26A4 | c.173G>A (p.Arg58Lys) | |
| 7 | g.107663304G>C | CA368845314 | SLC26A4 | c.173G>C (p.Arg58Thr) | |
| 7 | g.107663304G>T | CA368845312 | SLC26A4 | c.173G>T (p.Arg58Ile) | |
| 7 | g.107663305A= | CA1732735873 | SLC26A4 | c.174A= (p.Arg58=) | |
| 7 | g.107663305A>C | CA368845315 | SLC26A4 | c.174A>C (p.Arg58Ser) | |
| 7 | g.107663305A>G | CA457104258 | SLC26A4 | c.174A>G (p.Arg58=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663305A>T | CA368845316 | SLC26A4 | c.174A>T (p.Arg58Ser) | |
| 7 | g.107663306A>C | CA368845317 | SLC26A4 | c.175A>C (p.Lys59Gln) | |
| 7 | g.107663306A>G | CA368845318 | SLC26A4 | c.175A>G (p.Lys59Glu) | |
| 7 | g.107663306A>T | CA368845319 | SLC26A4 | c.175A>T (p.Lys59Ter) | |
| 7 | g.107663306_107663308delinsAAG | CA1732735878 | SLC26A4 | c.175_177delinsAAG (p.Lys59=) | |
| 7 | g.107663307A>C | CA368845320 | SLC26A4 | c.176A>C (p.Lys59Thr) | |
| 7 | g.107663307A>G | CA368845321 | SLC26A4 | c.176A>G (p.Lys59Arg) | |
| 7 | g.107663307A>T | CA368845322 | SLC26A4 | c.176A>T (p.Lys59Met) | |
| 7 | g.107663311_107663312del | CA1732735881 | SLC26A4 | c.180_181del (p.Arg60SerfsTer26) | dbSNP |
| 7 | g.107663308G>A | CA457104259 | SLC26A4 | c.177G>A (p.Lys59=) | gnomAD v4 |
| 7 | g.107663308G>C | CA368845323 | SLC26A4 | c.177G>C (p.Lys59Asn) | |
| 7 | g.107663308G>T | CA368845324 | SLC26A4 | c.177G>T (p.Lys59Asn) | |
| 7 | g.107663309A>C | CA457104260 | SLC26A4 | c.178A>C (p.Arg60=) | |
| 7 | g.107663309A>G | CA368845325 | SLC26A4 | c.178A>G (p.Arg60Gly) | |
| 7 | g.107663309A>T | CA368845326 | SLC26A4 | c.178A>T (p.Arg60Ter) | |
| 7 | g.107663310G>A | CA368845327 | SLC26A4 | c.179G>A (p.Arg60Lys) | |
| 7 | g.107663310G>C | CA4432388 | SLC26A4 | c.179G>C (p.Arg60Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663310G= | CA1732735883 | SLC26A4 | c.179G= (p.Arg60=) | |
| 7 | g.107663310G>T | CA4432387 | SLC26A4 | c.179G>T (p.Arg60Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663311A>C | CA368845328 | SLC26A4 | c.180A>C (p.Arg60Ser) | |
| 7 | g.107663311A>G | CA457104263 | SLC26A4 | c.180A>G (p.Arg60=) | |
| 7 | g.107663311A>T | CA368845329 | SLC26A4 | c.180A>T (p.Arg60Ser) | |
| 7 | g.107663312G>A | CA368845330 | SLC26A4 | c.181G>A (p.Ala61Thr) | |
| 7 | g.107663312G>C | CA368845331 | SLC26A4 | c.181G>C (p.Ala61Pro) | gnomAD v4 |
| 7 | g.107663312G= | CA1732735886 | SLC26A4 | c.181G= (p.Ala61=) | |
| 7 | g.107663312G>T | CA164209004 | SLC26A4 | c.181G>T (p.Ala61Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663313C>A | CA4432390 | SLC26A4 | c.182C>A (p.Ala61Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663313C= | CA1732735892 | SLC26A4 | c.182C= (p.Ala61=) | |
| 7 | g.107663313C>G | CA4432389 | SLC26A4 | c.182C>G (p.Ala61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663313C>T | CA368845332 | SLC26A4 | c.182C>T (p.Ala61Val) | gnomAD v4 |
| 7 | g.107663314C>A | CA457104265 | SLC26A4 | c.183C>A (p.Ala61=) | gnomAD v4 |
| 7 | g.107663314C= | CA1732735901 | SLC26A4 | c.183C= (p.Ala61=) | |
| 7 | g.107663314C>G | CA457104266 | SLC26A4 | c.183C>G (p.Ala61=) | |
| 7 | g.107663314C>T | CA4432391 | SLC26A4 | c.183C>T (p.Ala61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663315T>A | CA368845333 | SLC26A4 | c.184T>A (p.Phe62Ile) | |
| 7 | g.107663315T>C | CA164209024 | SLC26A4 | c.184T>C (p.Phe62Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107663315T>G | CA368845334 | SLC26A4 | c.184T>G (p.Phe62Val) | |
| 7 | g.107663315T= | CA1732735907 | SLC26A4 | c.184T= (p.Phe62=) | |
| 7 | g.107663316T>A | CA368845336 | SLC26A4 | c.185T>A (p.Phe62Tyr) | |
| 7 | g.107663316T>C | CA368845337 | SLC26A4 | c.185T>C (p.Phe62Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663316T>G | CA368845335 | SLC26A4 | c.185T>G (p.Phe62Cys) | |
| 7 | g.107663316T= | CA1732735912 | SLC26A4 | c.185T= (p.Phe62=) | |
| 7 | g.107663317T>A | CA368845339 | SLC26A4 | c.186T>A (p.Phe62Leu) | |
| 7 | g.107663317T>C | CA457104268 | SLC26A4 | c.186T>C (p.Phe62=) | |
| 7 | g.107663317T>G | CA368845338 | SLC26A4 | c.186T>G (p.Phe62Leu) | |
| 7 | g.107663318G>A | CA164209037 | SLC26A4 | c.187G>A (p.Gly63Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663318G>C | CA368845340 | SLC26A4 | c.187G>C (p.Gly63Arg) | |
| 7 | g.107663318G= | CA1732735915 | SLC26A4 | c.187G= (p.Gly63=) | |
| 7 | g.107663318G>T | CA368845341 | SLC26A4 | c.187G>T (p.Gly63Cys) | |
| 7 | g.107663319G>A | CA368845342 | SLC26A4 | c.188G>A (p.Gly63Asp) | gnomAD v4 |
| 7 | g.107663319G>C | CA4432392 | SLC26A4 | c.188G>C (p.Gly63Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663319G= | CA1732735920 | SLC26A4 | c.188G= (p.Gly63=) | |
| 7 | g.107663319G>T | CA368845343 | SLC26A4 | c.188G>T (p.Gly63Val) | gnomAD v4 COSMIC |
| 7 | g.107663320T>A | CA457104270 | SLC26A4 | c.189T>A (p.Gly63=) | |
| 7 | g.107663320T>C | CA457104271 | SLC26A4 | c.189T>C (p.Gly63=) | gnomAD v4 |
| 7 | g.107663320T>G | CA457104272 | SLC26A4 | c.189T>G (p.Gly63=) | |
| 7 | g.107663321G>A | CA368845346 | SLC26A4 | c.190G>A (p.Val64Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663321G>C | CA368845344 | SLC26A4 | c.190G>C (p.Val64Leu) | |
| 7 | g.107663321G= | CA1732735926 | SLC26A4 | c.190G= (p.Val64=) | |
| 7 | g.107663321G>T | CA368845345 | SLC26A4 | c.190G>T (p.Val64Leu) | |
| 7 | g.107663322T>A | CA4432393 | SLC26A4 | c.191T>A (p.Val64Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663322T>C | CA368845347 | SLC26A4 | c.191T>C (p.Val64Ala) | |
| 7 | g.107663322T>G | CA368845348 | SLC26A4 | c.191T>G (p.Val64Gly) | |
| 7 | g.107663322T= | CA1732735932 | SLC26A4 | c.191T= (p.Val64=) | |
| 7 | g.107663323G>A | CA457104274 | SLC26A4 | c.192G>A (p.Val64=) | |
| 7 | g.107663323G>C | CA457104275 | SLC26A4 | c.192G>C (p.Val64=) | |
| 7 | g.107663323G>T | CA457104277 | SLC26A4 | c.192G>T (p.Val64=) | gnomAD v4 |
| 7 | g.107663324C>A | CA368845349 | SLC26A4 | c.193C>A (p.Leu65Ile) | |
| 7 | g.107663324C>G | CA368845350 | SLC26A4 | c.193C>G (p.Leu65Val) | gnomAD v4 COSMIC |
| 7 | g.107663324C>T | CA457104278 | SLC26A4 | c.193C>T (p.Leu65=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663325T>A | CA368845351 | SLC26A4 | c.194T>A (p.Leu65Gln) | |
| 7 | g.107663325T>C | CA4432394 | SLC26A4 | c.194T>C (p.Leu65Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663325T>G | CA368845352 | SLC26A4 | c.194T>G (p.Leu65Arg) | |
| 7 | g.107663325T= | CA1732735936 | SLC26A4 | c.194T= (p.Leu65=) | |
| 7 | g.107663326A= | CA1732735942 | SLC26A4 | c.195A= (p.Leu65=) | |
| 7 | g.107663326A>C | CA457104281 | SLC26A4 | c.195A>C (p.Leu65=) | |
| 7 | g.107663326A>G | CA457104282 | SLC26A4 | c.195A>G (p.Leu65=) | |
| 7 | g.107663326A>T | CA4432395 | SLC26A4 | c.195A>T (p.Leu65=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663327_107663328del | CA2697557496 | SLC26A4 | c.196_197del (p.Lys66AspfsTer20) | ClinVar |
| 7 | g.107663327A>C | CA368845353 | SLC26A4 | c.196A>C (p.Lys66Gln) | |
| 7 | g.107663327A>G | CA368845354 | SLC26A4 | c.196A>G (p.Lys66Glu) | |
| 7 | g.107663327A>T | CA368845355 | SLC26A4 | c.196A>T (p.Lys66Ter) | ClinVar |
| 7 | g.107663328A>C | CA368845356 | SLC26A4 | c.197A>C (p.Lys66Thr) | |
| 7 | g.107663328A>G | CA368845357 | SLC26A4 | c.197A>G (p.Lys66Arg) | |
| 7 | g.107663328A>T | CA368845358 | SLC26A4 | c.197A>T (p.Lys66Met) | |
| 7 | g.107663329G>A | CA457104283 | SLC26A4 | c.198G>A (p.Lys66=) | |
| 7 | g.107663329G>C | CA368845359 | SLC26A4 | c.198G>C (p.Lys66Asn) | |
| 7 | g.107663329G>T | CA368845360 | SLC26A4 | c.198G>T (p.Lys66Asn) | |
| 7 | g.107663330A= | CA1732735948 | SLC26A4 | c.199A= (p.Thr67=) | |
| 7 | g.107663330A>C | CA368845361 | SLC26A4 | c.199A>C (p.Thr67Pro) | ClinVar dbSNP |
| 7 | g.107663330A>G | CA368845362 | SLC26A4 | c.199A>G (p.Thr67Ala) | |
| 7 | g.107663330A>T | CA368845363 | SLC26A4 | c.199A>T (p.Thr67Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663331C>A | CA368845364 | SLC26A4 | c.200C>A (p.Thr67Asn) | gnomAD v4 |
| 7 | g.107663331C= | CA1732735955 | SLC26A4 | c.200C= (p.Thr67=) | |
| 7 | g.107663331C>G | CA132691 | SLC26A4 | c.200C>G (p.Thr67Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663331C>T | CA368845365 | SLC26A4 | c.200C>T (p.Thr67Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107663332T>A | CA457104285 | SLC26A4 | c.201T>A (p.Thr67=) | |
| 7 | g.107663332T>C | CA4432396 | SLC26A4 | c.201T>C (p.Thr67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663332T>G | CA457104284 | SLC26A4 | c.201T>G (p.Thr67=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663332T= | CA1732735959 | SLC26A4 | c.201T= (p.Thr67=) | |
| 7 | g.107663333C>A | CA368845366 | SLC26A4 | c.202C>A (p.Leu68Ile) | |
| 7 | g.107663333C>G | CA368845367 | SLC26A4 | c.202C>G (p.Leu68Val) | |
| 7 | g.107663333C>T | CA368845368 | SLC26A4 | c.202C>T (p.Leu68Phe) | |
| 7 | g.107663334T>A | CA4432397 | SLC26A4 | c.203T>A (p.Leu68His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663334T>C | CA368845369 | SLC26A4 | c.203T>C (p.Leu68Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663334T>G | CA368845370 | SLC26A4 | c.203T>G (p.Leu68Arg) | gnomAD v4 |
| 7 | g.107663334T= | CA1732735963 | SLC26A4 | c.203T= (p.Leu68=) | |
| 7 | g.107663335T>A | CA457104291 | SLC26A4 | c.204T>A (p.Leu68=) | gnomAD v4 |
| 7 | g.107663335T>C | CA457104290 | SLC26A4 | c.204T>C (p.Leu68=) | dbSNP |
| 7 | g.107663335T>G | CA457104289 | SLC26A4 | c.204T>G (p.Leu68=) | |
| 7 | g.107663336G>A | CA368845371 | SLC26A4 | c.205G>A (p.Val69Met) | |
| 7 | g.107663336G>C | CA368845372 | SLC26A4 | c.205G>C (p.Val69Leu) | |
| 7 | g.107663336G= | CA1732735968 | SLC26A4 | c.205G= (p.Val69=) | |
| 7 | g.107663336G>T | CA368845373 | SLC26A4 | c.205G>T (p.Val69Leu) | dbSNP |
| 7 | g.107663337T>A | CA368845374 | SLC26A4 | c.206T>A (p.Val69Glu) | |
| 7 | g.107663337T>C | CA368845375 | SLC26A4 | c.206T>C (p.Val69Ala) | |
| 7 | g.107663337T>G | CA368845376 | SLC26A4 | c.206T>G (p.Val69Gly) | |
| 7 | g.107663338G>A | CA457104293 | SLC26A4 | c.207G>A (p.Val69=) | COSMIC |
| 7 | g.107663338G>C | CA4432398 | SLC26A4 | c.207G>C (p.Val69=) | dbSNP ExAC gnomAD v2 |
| 7 | g.107663338G= | CA1732735972 | SLC26A4 | c.207G= (p.Val69=) | |
| 7 | g.107663338G>T | CA457104294 | SLC26A4 | c.207G>T (p.Val69=) | |
| 7 | g.107663339C>A | CA368845377 | SLC26A4 | c.208C>A (p.Pro70Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663339C= | CA1732735977 | SLC26A4 | c.208C= (p.Pro70=) | |
| 7 | g.107663339C>G | CA368845378 | SLC26A4 | c.208C>G (p.Pro70Ala) | |
| 7 | g.107663339C>T | CA164209082 | SLC26A4 | c.208C>T (p.Pro70Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663340C>A | CA368845379 | SLC26A4 | c.209C>A (p.Pro70His) | |
| 7 | g.107663340C= | CA1732735984 | SLC26A4 | c.209C= (p.Pro70=) | |
| 7 | g.107663340C>G | CA368845380 | SLC26A4 | c.209C>G (p.Pro70Arg) | |
| 7 | g.107663340C>T | CA132699 | SLC26A4 | c.209C>T (p.Pro70Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663341C>A | CA457104295 | SLC26A4 | c.210C>A (p.Pro70=) | |
| 7 | g.107663341C= | CA1732735987 | SLC26A4 | c.210C= (p.Pro70=) | |
| 7 | g.107663341C>G | CA457104296 | SLC26A4 | c.210C>G (p.Pro70=) | |
| 7 | g.107663341C>T | CA457104297 | SLC26A4 | c.210C>T (p.Pro70=) | dbSNP |
| 7 | g.107663342A= | CA1732735990 | SLC26A4 | c.211A= (p.Ile71=) | |
| 7 | g.107663342A>C | CA368845381 | SLC26A4 | c.211A>C (p.Ile71Leu) | |
| 7 | g.107663342A>G | CA164209095 | SLC26A4 | c.211A>G (p.Ile71Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663342A>T | CA368845382 | SLC26A4 | c.211A>T (p.Ile71Phe) | |
| 7 | g.107663343T>A | CA4432399 | SLC26A4 | c.212T>A (p.Ile71Asn) | dbSNP ExAC |
| 7 | g.107663343T>C | CA368845383 | SLC26A4 | c.212T>C (p.Ile71Thr) | dbSNP |
| 7 | g.107663343T>G | CA368845384 | SLC26A4 | c.212T>G (p.Ile71Ser) | |
| 7 | g.107663343T= | CA1732735994 | SLC26A4 | c.212T= (p.Ile71=) | |
| 7 | g.107663344C>A | CA457104298 | SLC26A4 | c.213C>A (p.Ile71=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663344C= | CA1732735995 | SLC26A4 | c.213C= (p.Ile71=) | |
| 7 | g.107663344C>G | CA4432400 | SLC26A4 | c.213C>G (p.Ile71Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663344C>T | CA457104299 | SLC26A4 | c.213C>T (p.Ile71=) | |
| 7 | g.107663345T>A | CA368845386 | SLC26A4 | c.214T>A (p.Leu72Met) | gnomAD v4 |
| 7 | g.107663345T>C | CA457104300 | SLC26A4 | c.214T>C (p.Leu72=) | |
| 7 | g.107663345T>G | CA368845385 | SLC26A4 | c.214T>G (p.Leu72Val) | |
| 7 | g.107663346T>A | CA368845387 | SLC26A4 | c.215T>A (p.Leu72Ter) | |
| 7 | g.107663346T>C | CA368845389 | SLC26A4 | c.215T>C (p.Leu72Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663346T>G | CA368845388 | SLC26A4 | c.215T>G (p.Leu72Trp) | |
| 7 | g.107663346T= | CA1732735996 | SLC26A4 | c.215T= (p.Leu72=) | |
| 7 | g.107663347G>A | CA457104302 | SLC26A4 | c.216G>A (p.Leu72=) | |
| 7 | g.107663347G>C | CA368845390 | SLC26A4 | c.216G>C (p.Leu72Phe) | |
| 7 | g.107663347G>T | CA368845391 | SLC26A4 | c.216G>T (p.Leu72Phe) | |
| 7 | g.107663348G>A | CA368845392 | SLC26A4 | c.217G>A (p.Glu73Lys) | gnomAD v4 |
| 7 | g.107663348G>C | CA368845393 | SLC26A4 | c.217G>C (p.Glu73Gln) | |
| 7 | g.107663348G>T | CA368845394 | SLC26A4 | c.217G>T (p.Glu73Ter) | |
| 7 | g.107663349del | CA2695208247 | SLC26A4 | c.218del (p.Glu73GlyfsTer24) | |
| 7 | g.107663349A>C | CA368845395 | SLC26A4 | c.218A>C (p.Glu73Ala) | |
| 7 | g.107663349A>G | CA368845396 | SLC26A4 | c.218A>G (p.Glu73Gly) | |
| 7 | g.107663349A>T | CA368845397 | SLC26A4 | c.218A>T (p.Glu73Val) | |
| 7 | g.107663350G>A | CA457104304 | SLC26A4 | c.219G>A (p.Glu73=) | ClinVar |
| 7 | g.107663350G>C | CA368845399 | SLC26A4 | c.219G>C (p.Glu73Asp) | |
| 7 | g.107663350G>T | CA368845401 | SLC26A4 | c.219G>T (p.Glu73Asp) | |
| 7 | g.107663351T>A | CA368845402 | SLC26A4 | c.220T>A (p.Trp74Arg) | |
| 7 | g.107663351T>C | CA368845404 | SLC26A4 | c.220T>C (p.Trp74Arg) | |
| 7 | g.107663351T>G | CA368845405 | SLC26A4 | c.220T>G (p.Trp74Gly) | |
| 7 | g.107663352G>A | CA368845408 | SLC26A4 | c.221G>A (p.Trp74Ter) | |
| 7 | g.107663352G>C | CA368845411 | SLC26A4 | c.221G>C (p.Trp74Ser) | |
| 7 | g.107663352G>T | CA368845410 | SLC26A4 | c.221G>T (p.Trp74Leu) | |
| 7 | g.107663353G>A | CA368845413 | SLC26A4 | c.222G>A (p.Trp74Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107663353G>C | CA368845415 | SLC26A4 | c.222G>C (p.Trp74Cys) | |
| 7 | g.107663353G= | CA1732735999 | SLC26A4 | c.222G= (p.Trp74=) | |
| 7 | g.107663353G>T | CA368845417 | SLC26A4 | c.222G>T (p.Trp74Cys) | gnomAD v4 |
| 7 | g.107663354C>A | CA368845419 | SLC26A4 | c.223C>A (p.Leu75Ile) | |
| 7 | g.107663354C>G | CA368845421 | SLC26A4 | c.223C>G (p.Leu75Val) | |
| 7 | g.107663354C>T | CA368845423 | SLC26A4 | c.223C>T (p.Leu75Phe) | |
| 7 | g.107663355T>A | CA368845425 | SLC26A4 | c.224T>A (p.Leu75His) | |
| 7 | g.107663355T>C | CA368845427 | SLC26A4 | c.224T>C (p.Leu75Pro) | |
| 7 | g.107663355T>G | CA368845429 | SLC26A4 | c.224T>G (p.Leu75Arg) | |
| 7 | g.107663356C>A | CA457104312 | SLC26A4 | c.225C>A (p.Leu75=) | gnomAD v4 |
| 7 | g.107663356C= | CA1732736000 | SLC26A4 | c.225C= (p.Leu75=) | |
| 7 | g.107663356C>G | CA4432401 | SLC26A4 | c.225C>G (p.Leu75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663356C>T | CA457104313 | SLC26A4 | c.225C>T (p.Leu75=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107663357C>A | CA368845433 | SLC26A4 | c.226C>A (p.Pro76Thr) | |
| 7 | g.107663357C= | CA1732736007 | SLC26A4 | c.226C= (p.Pro76=) | |
| 7 | g.107663357C>G | CA368845435 | SLC26A4 | c.226C>G (p.Pro76Ala) | |
| 7 | g.107663357C>T | CA368845431 | SLC26A4 | c.226C>T (p.Pro76Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663358C>A | CA368845436 | SLC26A4 | c.227C>A (p.Pro76His) | |
| 7 | g.107663358C= | CA1732736013 | SLC26A4 | c.227C= (p.Pro76=) | |
| 7 | g.107663358C>G | CA368845437 | SLC26A4 | c.227C>G (p.Pro76Arg) | ClinVar dbSNP |
| 7 | g.107663358C>T | CA368845438 | SLC26A4 | c.227C>T (p.Pro76Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663359C>A | CA457104315 | SLC26A4 | c.228C>A (p.Pro76=) | |
| 7 | g.107663359C>G | CA457104316 | SLC26A4 | c.228C>G (p.Pro76=) | |
| 7 | g.107663359C>T | CA457104317 | SLC26A4 | c.228C>T (p.Pro76=) | |
| 7 | g.107663360A= | CA1732736022 | SLC26A4 | c.229A= (p.Lys77=) | |
| 7 | g.107663360A>C | CA164209116 | SLC26A4 | c.229A>C (p.Lys77Gln) | dbSNP |
| 7 | g.107663360A>G | CA368845439 | SLC26A4 | c.229A>G (p.Lys77Glu) | |
| 7 | g.107663360A>T | CA368845440 | SLC26A4 | c.229A>T (p.Lys77Ter) | |
| 7 | g.107663361A>C | CA368845441 | SLC26A4 | c.230A>C (p.Lys77Thr) | |
| 7 | g.107663361A>G | CA368845442 | SLC26A4 | c.230A>G (p.Lys77Arg) | gnomAD v4 |
| 7 | g.107663361A>T | CA368845443 | SLC26A4 | c.230A>T (p.Lys77Ile) | |
| 7 | g.107663362A= | CA1732736025 | SLC26A4 | c.231A= (p.Lys77=) | |
| 7 | g.107663362A>C | CA4432402 | SLC26A4 | c.231A>C (p.Lys77Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663362A>G | CA457104324 | SLC26A4 | c.231A>G (p.Lys77=) | ClinVar gnomAD v4 |
| 7 | g.107663362A>T | CA368845445 | SLC26A4 | c.231A>T (p.Lys77Asn) | |
| 7 | g.107663363del | CA2684458564 | SLC26A4 | c.232del (p.Tyr78ThrfsTer19) | gnomAD v4 |
| 7 | g.107663363T>A | CA368845447 | SLC26A4 | c.232T>A (p.Tyr78Asn) | |
| 7 | g.107663363T>C | CA4432403 | SLC26A4 | c.232T>C (p.Tyr78His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663363T>G | CA368845449 | SLC26A4 | c.232T>G (p.Tyr78Asp) | |
| 7 | g.107663363T= | CA1732736029 | SLC26A4 | c.232T= (p.Tyr78=) | |
| 7 | g.107663364A>C | CA368845456 | SLC26A4 | c.233A>C (p.Tyr78Ser) | |
| 7 | g.107663364A>G | CA368845454 | SLC26A4 | c.233A>G (p.Tyr78Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663364A>T | CA368845452 | SLC26A4 | c.233A>T (p.Tyr78Phe) | gnomAD v4 |
| 7 | g.107663365C>A | CA368845458 | SLC26A4 | c.234C>A (p.Tyr78Ter) | |
| 7 | g.107663365C= | CA1732736033 | SLC26A4 | c.234C= (p.Tyr78=) | |
| 7 | g.107663365C>G | CA368845460 | SLC26A4 | c.234C>G (p.Tyr78Ter) | |
| 7 | g.107663365C>T | CA4432404 | SLC26A4 | c.234C>T (p.Tyr78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107663366del | CA2695208248 | SLC26A4 | c.235del (p.Arg79GlufsTer18) | |
| 7 | g.107663366C>A | CA457104327 | SLC26A4 | c.235C>A (p.Arg79=) | gnomAD v4 |
| 7 | g.107663366C= | CA1732736038 | SLC26A4 | c.235C= (p.Arg79=) | |
| 7 | g.107663366C>G | CA368845461 | SLC26A4 | c.235C>G (p.Arg79Gly) | |
| 7 | g.107663366C>T | CA274174 | SLC26A4 | c.235C>T (p.Arg79Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663367G>A | CA4432405 | SLC26A4 | c.236G>A (p.Arg79Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107663367G>C | CA368845464 | SLC26A4 | c.236G>C (p.Arg79Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663367G= | CA1732736044 | SLC26A4 | c.236G= (p.Arg79=) | |
| 7 | g.107663367G>T | CA368845466 | SLC26A4 | c.236G>T (p.Arg79Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663368A= | CA1732736050 | SLC26A4 | c.237A= (p.Arg79=) | |
| 7 | g.107663368A>C | CA457104331 | SLC26A4 | c.237A>C (p.Arg79=) | |
| 7 | g.107663368A>G | CA164209121 | SLC26A4 | c.237A>G (p.Arg79=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663368A>T | CA457104332 | SLC26A4 | c.237A>T (p.Arg79=) | |
| 7 | g.107663369G>A | CA164209122 | SLC26A4 | c.238G>A (p.Val80Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663369G>C | CA368845469 | SLC26A4 | c.238G>C (p.Val80Leu) | dbSNP |
| 7 | g.107663369G= | CA1732736055 | SLC26A4 | c.238G= (p.Val80=) | |
| 7 | g.107663369G>T | CA368845470 | SLC26A4 | c.238G>T (p.Val80Phe) | dbSNP gnomAD v4 |
| 7 | g.107663370T>A | CA368845473 | SLC26A4 | c.239T>A (p.Val80Asp) | |
| 7 | g.107663370T>C | CA368845475 | SLC26A4 | c.239T>C (p.Val80Ala) | |
| 7 | g.107663370T>G | CA368845477 | SLC26A4 | c.239T>G (p.Val80Gly) | |
| 7 | g.107663371C>A | CA457104340 | SLC26A4 | c.240C>A (p.Val80=) | gnomAD v4 |
| 7 | g.107663371C>G | CA457104341 | SLC26A4 | c.240C>G (p.Val80=) | |
| 7 | g.107663371C>T | CA457104342 | SLC26A4 | c.240C>T (p.Val80=) | |
| 7 | g.107663372A= | CA1732736061 | SLC26A4 | c.241A= (p.Lys81=) | |
| 7 | g.107663372A>C | CA368845482 | SLC26A4 | c.241A>C (p.Lys81Gln) | |
| 7 | g.107663372A>G | CA368845481 | SLC26A4 | c.241A>G (p.Lys81Glu) | dbSNP |
| 7 | g.107663372A>T | CA368845479 | SLC26A4 | c.241A>T (p.Lys81Ter) | |
| 7 | g.107663373dup | CA2580076143 | SLC26A4 | c.242dup (p.Glu82GlyfsTer5) | ClinVar |
| 7 | g.107663373A= | CA1732736065 | SLC26A4 | c.242A= (p.Lys81=) | |
| 7 | g.107663373A>C | CA368845486 | SLC26A4 | c.242A>C (p.Lys81Thr) | |
| 7 | g.107663373A>G | CA368845484 | SLC26A4 | c.242A>G (p.Lys81Arg) | dbSNP gnomAD v4 |
| 7 | g.107663373A>T | CA368845488 | SLC26A4 | c.242A>T (p.Lys81Met) | |
| 7 | g.107663374G>A | CA457104346 | SLC26A4 | c.243G>A (p.Lys81=) | gnomAD v4 |
| 7 | g.107663374G>C | CA368845490 | SLC26A4 | c.243G>C (p.Lys81Asn) | |
| 7 | g.107663374G>T | CA368845491 | SLC26A4 | c.243G>T (p.Lys81Asn) | |
| 7 | g.107663375G>A | CA4432406 | SLC26A4 | c.244G>A (p.Glu82Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.107663375G>C | CA368845493 | SLC26A4 | c.244G>C (p.Glu82Gln) | gnomAD v4 |
| 7 | g.107663375G= | CA1732736068 | SLC26A4 | c.244G= (p.Glu82=) | |
| 7 | g.107663375G>T | CA368845495 | SLC26A4 | c.244G>T (p.Glu82Ter) | |
| 7 | g.107663376A>C | CA368845497 | SLC26A4 | c.245A>C (p.Glu82Ala) | |
| 7 | g.107663376A>G | CA368845498 | SLC26A4 | c.245A>G (p.Glu82Gly) | |
| 7 | g.107663376A>T | CA368845500 | SLC26A4 | c.245A>T (p.Glu82Val) | |
| 7 | g.107663377A>C | CA368845502 | SLC26A4 | c.246A>C (p.Glu82Asp) | |
| 7 | g.107663377A>G | CA457104351 | SLC26A4 | c.246A>G (p.Glu82=) | |
| 7 | g.107663377A>T | CA368845504 | SLC26A4 | c.246A>T (p.Glu82Asp) | |
| 7 | g.107663378T>A | CA368845505 | SLC26A4 | c.247T>A (p.Trp83Arg) | |
| 7 | g.107663378T>C | CA368845506 | SLC26A4 | c.247T>C (p.Trp83Arg) | gnomAD v4 |
| 7 | g.107663378T>G | CA368845509 | SLC26A4 | c.247T>G (p.Trp83Gly) | ClinVar dbSNP |
| 7 | g.107663378T= | CA1732736073 | SLC26A4 | c.247T= (p.Trp83=) | |
| 7 | g.107663379G>A | CA368845512 | SLC26A4 | c.248G>A (p.Trp83Ter) | ClinVar gnomAD v4 |
| 7 | g.107663379G>C | CA368845514 | SLC26A4 | c.248G>C (p.Trp83Ser) | |
| 7 | g.107663379G>T | CA368845516 | SLC26A4 | c.248G>T (p.Trp83Leu) | |
| 7 | g.107663380G>A | CA16041100 | SLC26A4 | c.249G>A (p.Trp83Ter) | ClinVar dbSNP |
| 7 | g.107663380G>C | CA368845523 | SLC26A4 | c.249G>C (p.Trp83Cys) | |
| 7 | g.107663380G= | CA1732736079 | SLC26A4 | c.249G= (p.Trp83=) | |
| 7 | g.107663380G>T | CA368845521 | SLC26A4 | c.249G>T (p.Trp83Cys) | |
| 7 | g.107663381C>A | CA368845530 | SLC26A4 | c.250C>A (p.Leu84Met) | |
| 7 | g.107663381C= | CA1732736084 | SLC26A4 | c.250C= (p.Leu84=) | |
| 7 | g.107663381C>G | CA368845543 | SLC26A4 | c.250C>G (p.Leu84Val) | |
| 7 | g.107663381C>T | CA457104353 | SLC26A4 | c.250C>T (p.Leu84=) | dbSNP gnomAD v4 |
| 7 | g.107663382T>A | CA368845547 | SLC26A4 | c.251T>A (p.Leu84Gln) | |
| 7 | g.107663382T>C | CA368845549 | SLC26A4 | c.251T>C (p.Leu84Pro) | |
| 7 | g.107663382T>G | CA368845552 | SLC26A4 | c.251T>G (p.Leu84Arg) | |
| 7 | g.107663383G>A | CA457104356 | SLC26A4 | c.252G>A (p.Leu84=) | |
| 7 | g.107663383G>C | CA457104357 | SLC26A4 | c.252G>C (p.Leu84=) | |
| 7 | g.107663383G>T | CA457104358 | SLC26A4 | c.252G>T (p.Leu84=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663384C>A | CA368845555 | SLC26A4 | c.253C>A (p.Leu85Ile) | |
| 7 | g.107663384C>G | CA368845557 | SLC26A4 | c.253C>G (p.Leu85Val) | dbSNP |
| 7 | g.107663384C>T | CA368845559 | SLC26A4 | c.253C>T (p.Leu85Phe) | |
| 7 | g.107663385T>A | CA368845562 | SLC26A4 | c.254T>A (p.Leu85His) | |
| 7 | g.107663385T>C | CA368845563 | SLC26A4 | c.254T>C (p.Leu85Pro) | gnomAD v4 |
| 7 | g.107663385T>G | CA368845565 | SLC26A4 | c.254T>G (p.Leu85Arg) | gnomAD v4 |
| 7 | g.107663386del | CA2580076144 | SLC26A4 | c.255del (p.Ser86ValfsTer11) | ClinVar |
| 7 | g.107663386T>A | CA457104360 | SLC26A4 | c.255T>A (p.Leu85=) | |
| 7 | g.107663386T>C | CA457104361 | SLC26A4 | c.255T>C (p.Leu85=) | ClinVar |
| 7 | g.107663386T>G | CA457104363 | SLC26A4 | c.255T>G (p.Leu85=) | |
| 7 | g.107663387A>C | CA368845566 | SLC26A4 | c.256A>C (p.Ser86Arg) | |
| 7 | g.107663387A>G | CA368845568 | SLC26A4 | c.256A>G (p.Ser86Gly) | |
| 7 | g.107663387A>T | CA368845569 | SLC26A4 | c.256A>T (p.Ser86Cys) | |
| 7 | g.107663388G>A | CA4432407 | SLC26A4 | c.257G>A (p.Ser86Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663388G>C | CA368845573 | SLC26A4 | c.257G>C (p.Ser86Thr) | |
| 7 | g.107663388G= | CA1732736088 | SLC26A4 | c.257G= (p.Ser86=) | |
| 7 | g.107663388G>T | CA368845571 | SLC26A4 | c.257G>T (p.Ser86Ile) | |
| 7 | g.107663389T>A | CA164209159 | SLC26A4 | c.258T>A (p.Ser86Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663389T>C | CA4432408 | SLC26A4 | c.258T>C (p.Ser86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107663389T>G | CA368845582 | SLC26A4 | c.258T>G (p.Ser86Arg) | |
| 7 | g.107663389T= | CA1732736094 | SLC26A4 | c.258T= (p.Ser86=) | |
| 7 | g.107663390G>A | CA368845585 | SLC26A4 | c.259G>A (p.Asp87Asn) | |
| 7 | g.107663390G>C | CA368845587 | SLC26A4 | c.259G>C (p.Asp87His) | |
| 7 | g.107663390G= | CA1732736099 | SLC26A4 | c.259G= (p.Asp87=) | |
| 7 | g.107663390G>T | CA368845588 | SLC26A4 | c.259G>T (p.Asp87Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107663391A= | CA1732736105 | SLC26A4 | c.260A= (p.Asp87=) | |
| 7 | g.107663391A>C | CA368845595 | SLC26A4 | c.260A>C (p.Asp87Ala) | |
| 7 | g.107663391A>G | CA132717 | SLC26A4 | c.260A>G (p.Asp87Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107663391A>T | CA368845591 | SLC26A4 | c.260A>T (p.Asp87Val) | |
| 7 | g.107663392C>A | CA368845598 | SLC26A4 | c.261C>A (p.Asp87Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107663392C= | CA1732736110 | SLC26A4 | c.261C= (p.Asp87=) | |
| 7 | g.107663392C>G | CA368845600 | SLC26A4 | c.261C>G (p.Asp87Glu) | |
| 7 | g.107663392C>T | CA4432409 | SLC26A4 | c.261C>T (p.Asp87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107663393_107663395del | CA2715528560 | SLC26A4 | c.262_264del (p.Val88del) | dbSNP |