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 |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.149977910A= | CA1590737332 | SLC26A2 | n.490A= c.258A= (p.Lys86=) | |
| 5 | g.149977910A>C | CA361704569 | SLC26A2 | n.490A>C c.258A>C (p.Lys86Asn) | gnomAD v4 |
| 5 | g.149977910A>G | CA447401839 | SLC26A2 | n.490A>G c.258A>G (p.Lys86=) | |
| 5 | g.149977910A>T | CA361704571 | SLC26A2 | n.490A>T c.258A>T (p.Lys86Asn) | COSMIC |
| 5 | g.149977910_149977911insCACACCCAACAC | CA2768879900 | SLC26A2 | n.490_491insCACACCCAACAC c.258_259insCACACCCAACAC (p.Lys86_Asn87insHisThrGlnHis) | |
| 5 | g.149977911A>C | CA361704576 | SLC26A2 | n.491A>C c.259A>C (p.Asn87His) | |
| 5 | g.149977911A>G | CA361704573 | SLC26A2 | n.491A>G c.259A>G (p.Asn87Asp) | |
| 5 | g.149977911A>T | CA361704575 | SLC26A2 | n.491A>T c.259A>T (p.Asn87Tyr) | |
| 5 | g.149977911_149977912insTA | CA1590737333 | SLC26A2 | n.491_492insTA c.259_260insTA (p.Asn87IlefsTer3) | dbSNP |
| 5 | g.149977912A>C | CA361704577 | SLC26A2 | n.492A>C c.260A>C (p.Asn87Thr) | |
| 5 | g.149977912A>G | CA361704579 | SLC26A2 | n.492A>G c.260A>G (p.Asn87Ser) | |
| 5 | g.149977912A>T | CA361704580 | SLC26A2 | n.492A>T c.260A>T (p.Asn87Ile) | |
| 5 | g.149977913T>A | CA361704582 | SLC26A2 | n.493T>A c.261T>A (p.Asn87Lys) | |
| 5 | g.149977913T>C | CA447401840 | SLC26A2 | n.493T>C c.261T>C (p.Asn87=) | ClinVar dbSNP |
| 5 | g.149977913T>G | CA361704584 | SLC26A2 | n.493T>G c.261T>G (p.Asn87Lys) | |
| 5 | g.149977914A>C | CA361704585 | SLC26A2 | n.494A>C c.262A>C (p.Met88Leu) | |
| 5 | g.149977914A>G | CA361704587 | SLC26A2 | n.494A>G c.262A>G (p.Met88Val) | |
| 5 | g.149977914A>T | CA361704589 | SLC26A2 | n.494A>T c.262A>T (p.Met88Leu) | |
| 5 | g.149977915del | CA2675943464 | SLC26A2 | n.495del c.263del (p.Met88ArgfsTer3) | gnomAD v4 |
| 5 | g.149977915T>A | CA361704590 | SLC26A2 | n.495T>A c.263T>A (p.Met88Lys) | |
| 5 | g.149977915T>C | CA3505225 | SLC26A2 | n.495T>C c.263T>C (p.Met88Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977915T>G | CA361704592 | SLC26A2 | n.495T>G c.263T>G (p.Met88Arg) | |
| 5 | g.149977915T= | CA1590737334 | SLC26A2 | n.495T= c.263T= (p.Met88=) | |
| 5 | g.149977916G>A | CA361704596 | SLC26A2 | n.496G>A c.264G>A (p.Met88Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977916G>C | CA361704597 | SLC26A2 | n.496G>C c.264G>C (p.Met88Ile) | |
| 5 | g.149977916G= | CA1590737335 | SLC26A2 | n.496G= c.264G= (p.Met88=) | |
| 5 | g.149977916G>T | CA361704594 | SLC26A2 | n.496G>T c.264G>T (p.Met88Ile) | |
| 5 | g.149977917A>C | CA361704599 | SLC26A2 | n.497A>C c.265A>C (p.Ile89Leu) | |
| 5 | g.149977917A>G | CA361704600 | SLC26A2 | n.497A>G c.265A>G (p.Ile89Val) | gnomAD v4 |
| 5 | g.149977917A>T | CA361704602 | SLC26A2 | n.497A>T c.265A>T (p.Ile89Phe) | |
| 5 | g.149977918T>A | CA361704603 | SLC26A2 | n.498T>A c.266T>A (p.Ile89Asn) | |
| 5 | g.149977918T>C | CA361704605 | SLC26A2 | n.498T>C c.266T>C (p.Ile89Thr) | |
| 5 | g.149977918T>G | CA361704607 | SLC26A2 | n.498T>G c.266T>G (p.Ile89Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977918T= | CA1590737336 | SLC26A2 | n.498T= c.266T= (p.Ile89=) | |
| 5 | g.149977919T>A | CA447401841 | SLC26A2 | n.499T>A c.267T>A (p.Ile89=) | |
| 5 | g.149977919T>C | CA447401842 | SLC26A2 | n.499T>C c.267T>C (p.Ile89=) | |
| 5 | g.149977919T>G | CA361704608 | SLC26A2 | n.499T>G c.267T>G (p.Ile89Met) | gnomAD v4 |
| 5 | g.149977920T>A | CA361704610 | SLC26A2 | n.500T>A c.268T>A (p.Leu90Ile) | |
| 5 | g.149977920T>C | CA447401843 | SLC26A2 | n.500T>C c.268T>C (p.Leu90=) | |
| 5 | g.149977920T>G | CA361704612 | SLC26A2 | n.500T>G c.268T>G (p.Leu90Val) | |
| 5 | g.149977921T>A | CA361704614 | SLC26A2 | n.501T>A c.269T>A (p.Leu90Ter) | |
| 5 | g.149977921T>C | CA361704616 | SLC26A2 | n.501T>C c.269T>C (p.Leu90Ser) | |
| 5 | g.149977921T>G | CA361704617 | SLC26A2 | n.501T>G c.269T>G (p.Leu90Ter) | |
| 5 | g.149977922A>C | CA361704619 | SLC26A2 | n.502A>C c.270A>C (p.Leu90Phe) | |
| 5 | g.149977922A>G | CA447401844 | SLC26A2 | n.502A>G c.270A>G (p.Leu90=) | |
| 5 | g.149977922A>T | CA361704621 | SLC26A2 | n.502A>T c.270A>T (p.Leu90Phe) | |
| 5 | g.149977923G>A | CA361704626 | SLC26A2 | n.503G>A c.271G>A (p.Gly91Ser) | |
| 5 | g.149977923G>C | CA361704625 | SLC26A2 | n.503G>C c.271G>C (p.Gly91Arg) | dbSNP |
| 5 | g.149977923G= | CA1590737337 | SLC26A2 | n.503G= c.271G= (p.Gly91=) | |
| 5 | g.149977923G>T | CA361704623 | SLC26A2 | n.503G>T c.271G>T (p.Gly91Cys) | |
| 5 | g.149977924G>A | CA361704628 | SLC26A2 | n.504G>A c.272G>A (p.Gly91Asp) | dbSNP gnomAD v4 |
| 5 | g.149977924G>C | CA361704629 | SLC26A2 | n.504G>C c.272G>C (p.Gly91Ala) | |
| 5 | g.149977924G= | CA1590737338 | SLC26A2 | n.504G= c.272G= (p.Gly91=) | |
| 5 | g.149977924G>T | CA3505226 | SLC26A2 | n.504G>T c.272G>T (p.Gly91Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977925T>A | CA447401847 | SLC26A2 | n.505T>A c.273T>A (p.Gly91=) | |
| 5 | g.149977925T>C | CA447401846 | SLC26A2 | n.505T>C c.273T>C (p.Gly91=) | |
| 5 | g.149977925T>G | CA447401845 | SLC26A2 | n.505T>G c.273T>G (p.Gly91=) | |
| 5 | g.149977926T>A | CA361704632 | SLC26A2 | n.506T>A c.274T>A (p.Phe92Ile) | |
| 5 | g.149977926T>C | CA361704634 | SLC26A2 | n.506T>C c.274T>C (p.Phe92Leu) | |
| 5 | g.149977926T>G | CA361704635 | SLC26A2 | n.506T>G c.274T>G (p.Phe92Val) | |
| 5 | g.149977927T>A | CA361704637 | SLC26A2 | n.507T>A c.275T>A (p.Phe92Tyr) | |
| 5 | g.149977927T>C | CA361704639 | SLC26A2 | n.507T>C c.275T>C (p.Phe92Ser) | |
| 5 | g.149977927T>G | CA361704641 | SLC26A2 | n.507T>G c.275T>G (p.Phe92Cys) | |
| 5 | g.149977928C>A | CA361704642 | SLC26A2 | n.508C>A c.276C>A (p.Phe92Leu) | |
| 5 | g.149977928C>G | CA361704644 | SLC26A2 | n.508C>G c.276C>G (p.Phe92Leu) | |
| 5 | g.149977928C>T | CA447401848 | SLC26A2 | n.508C>T c.276C>T (p.Phe92=) | ClinVar |
| 5 | g.149977929del | CA2740094130 | SLC26A2 | n.509del c.277del (p.Leu93PhefsTer12) | ClinVar |
| 5 | g.149977929C>A | CA361704646 | SLC26A2 | n.509C>A c.277C>A (p.Leu93Ile) | |
| 5 | g.149977929C>G | CA361704648 | SLC26A2 | n.509C>G c.277C>G (p.Leu93Val) | |
| 5 | g.149977929C>T | CA361704649 | SLC26A2 | n.509C>T c.277C>T (p.Leu93Phe) | |
| 5 | g.149977930T>A | CA361704651 | SLC26A2 | n.510T>A c.278T>A (p.Leu93His) | gnomAD v4 |
| 5 | g.149977930T>C | CA361704652 | SLC26A2 | n.510T>C c.278T>C (p.Leu93Pro) | |
| 5 | g.149977930T>G | CA361704650 | SLC26A2 | n.510T>G c.278T>G (p.Leu93Arg) | gnomAD v4 |
| 5 | g.149977931T>A | CA447401849 | SLC26A2 | n.511T>A c.279T>A (p.Leu93=) | |
| 5 | g.149977931T>C | CA447401850 | SLC26A2 | n.511T>C c.279T>C (p.Leu93=) | ClinVar dbSNP |
| 5 | g.149977931T>G | CA447401851 | SLC26A2 | n.511T>G c.279T>G (p.Leu93=) | |
| 5 | g.149977932C>A | CA361704653 | SLC26A2 | n.512C>A c.280C>A (p.Pro94Thr) | |
| 5 | g.149977932C= | CA1590737339 | SLC26A2 | n.512C= c.280C= (p.Pro94=) | |
| 5 | g.149977932C>G | CA361704654 | SLC26A2 | n.512C>G c.280C>G (p.Pro94Ala) | dbSNP |
| 5 | g.149977932C>T | CA3505227 | SLC26A2 | n.512C>T c.280C>T (p.Pro94Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977933C>A | CA361704655 | SLC26A2 | n.513C>A c.281C>A (p.Pro94His) | |
| 5 | g.149977933C= | CA1590737340 | SLC26A2 | n.513C= c.281C= (p.Pro94=) | |
| 5 | g.149977933C>G | CA361704656 | SLC26A2 | n.513C>G c.281C>G (p.Pro94Arg) | |
| 5 | g.149977933C>T | CA361704657 | SLC26A2 | n.513C>T c.281C>T (p.Pro94Leu) | dbSNP |
| 5 | g.149977934T>A | CA447401852 | SLC26A2 | n.514T>A c.282T>A (p.Pro94=) | |
| 5 | g.149977934T>C | CA447401853 | SLC26A2 | n.514T>C c.282T>C (p.Pro94=) | gnomAD v4 |
| 5 | g.149977934T>G | CA447401854 | SLC26A2 | n.514T>G c.282T>G (p.Pro94=) | |
| 5 | g.149977935G>A | CA361704660 | SLC26A2 | n.515G>A c.283G>A (p.Val95Ile) | |
| 5 | g.149977935G>C | CA361704658 | SLC26A2 | n.515G>C c.283G>C (p.Val95Leu) | |
| 5 | g.149977935G>T | CA361704659 | SLC26A2 | n.515G>T c.283G>T (p.Val95Phe) | |
| 5 | g.149977936T>A | CA361704661 | SLC26A2 | n.516T>A c.284T>A (p.Val95Asp) | |
| 5 | g.149977936T>C | CA361704662 | SLC26A2 | n.516T>C c.284T>C (p.Val95Ala) | |
| 5 | g.149977936T>G | CA361704663 | SLC26A2 | n.516T>G c.284T>G (p.Val95Gly) | |
| 5 | g.149977938_149977939del | CA2675943465 | SLC26A2 | n.518_519del c.286_287del (p.Leu96AlafsTer?) | gnomAD v4 |
| 5 | g.149977937T>A | CA447401855 | SLC26A2 | n.517T>A c.285T>A (p.Val95=) | |
| 5 | g.149977937T>C | CA447401856 | SLC26A2 | n.517T>C c.285T>C (p.Val95=) | |
| 5 | g.149977937T>G | CA447401857 | SLC26A2 | n.517T>G c.285T>G (p.Val95=) | |
| 5 | g.149977938T>A | CA361704664 | SLC26A2 | n.518T>A c.286T>A (p.Leu96Met) | gnomAD v4 |
| 5 | g.149977938T>C | CA447401858 | SLC26A2 | n.518T>C c.286T>C (p.Leu96=) | |
| 5 | g.149977938T>G | CA361704665 | SLC26A2 | n.518T>G c.286T>G (p.Leu96Val) | |
| 5 | g.149977939T>A | CA361704666 | SLC26A2 | n.519T>A c.287T>A (p.Leu96Ter) | |
| 5 | g.149977939T>C | CA361704668 | SLC26A2 | n.519T>C c.287T>C (p.Leu96Ser) | |
| 5 | g.149977939T>G | CA361704667 | SLC26A2 | n.519T>G c.287T>G (p.Leu96Trp) | |
| 5 | g.149977940G>A | CA447401859 | SLC26A2 | n.520G>A c.288G>A (p.Leu96=) | |
| 5 | g.149977940G>C | CA361704669 | SLC26A2 | n.520G>C c.288G>C (p.Leu96Phe) | |
| 5 | g.149977940G= | CA1590737341 | SLC26A2 | n.520G= c.288G= (p.Leu96=) | |
| 5 | g.149977940G>T | CA3505228 | SLC26A2 | n.520G>T c.288G>T (p.Leu96Phe) | dbSNP ExAC gnomAD v2 |
| 5 | g.149977941C>A | CA361704670 | SLC26A2 | n.521C>A c.289C>A (p.Gln97Lys) | gnomAD v4 |
| 5 | g.149977941C>G | CA361704671 | SLC26A2 | n.521C>G c.289C>G (p.Gln97Glu) | |
| 5 | g.149977941C>T | CA361704672 | SLC26A2 | n.521C>T c.289C>T (p.Gln97Ter) | |
| 5 | g.149977942A= | CA1590737342 | SLC26A2 | n.522A= c.290A= (p.Gln97=) | |
| 5 | g.149977942A>C | CA361704673 | SLC26A2 | n.522A>C c.290A>C (p.Gln97Pro) | |
| 5 | g.149977942A>G | CA361704674 | SLC26A2 | n.522A>G c.290A>G (p.Gln97Arg) | dbSNP gnomAD v4 |
| 5 | g.149977942A>T | CA361704675 | SLC26A2 | n.522A>T c.290A>T (p.Gln97Leu) | |
| 5 | g.149977943G>A | CA447401860 | SLC26A2 | n.523G>A c.291G>A (p.Gln97=) | ClinVar |
| 5 | g.149977943G>C | CA361704676 | SLC26A2 | n.523G>C c.291G>C (p.Gln97His) | |
| 5 | g.149977943G>T | CA361704677 | SLC26A2 | n.523G>T c.291G>T (p.Gln97His) | |
| 5 | g.149977944T>A | CA361704678 | SLC26A2 | n.524T>A c.292T>A (p.Trp98Arg) | |
| 5 | g.149977944T>C | CA3505229 | SLC26A2 | n.524T>C c.292T>C (p.Trp98Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977944T>G | CA361704679 | SLC26A2 | n.524T>G c.292T>G (p.Trp98Gly) | |
| 5 | g.149977944T= | CA1590737343 | SLC26A2 | n.524T= c.292T= (p.Trp98=) |