| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977859del | CA16040986 | SLC26A2 | n.439del c.207del (p.Phe69LeufsTer20) | ClinVar dbSNP |
| 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) |