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.149977766C>A | CA361704024 | SLC26A2 | n.346C>A c.114C>A (p.Asp38Glu) | |
| 5 | g.149977766C= | CA1590737277 | SLC26A2 | n.346C= c.114C= (p.Asp38=) | |
| 5 | g.149977766C>G | CA361704025 | SLC26A2 | n.346C>G c.114C>G (p.Asp38Glu) | |
| 5 | g.149977766C>T | CA3505202 | SLC26A2 | n.346C>T c.114C>T (p.Asp38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977767T>A | CA361704026 | SLC26A2 | n.347T>A c.115T>A (p.Phe39Ile) | |
| 5 | g.149977767T>C | CA3505203 | SLC26A2 | n.347T>C c.115T>C (p.Phe39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977767T>G | CA361704028 | SLC26A2 | n.347T>G c.115T>G (p.Phe39Val) | |
| 5 | g.149977767T= | CA1590737278 | SLC26A2 | n.347T= c.115T= (p.Phe39=) | |
| 5 | g.149977768T>A | CA361704030 | SLC26A2 | n.348T>A c.116T>A (p.Phe39Tyr) | |
| 5 | g.149977768T>C | CA361704032 | SLC26A2 | n.348T>C c.116T>C (p.Phe39Ser) | |
| 5 | g.149977768T>G | CA361704031 | SLC26A2 | n.348T>G c.116T>G (p.Phe39Cys) | |
| 5 | g.149977769C>A | CA361704033 | SLC26A2 | n.349C>A c.117C>A (p.Phe39Leu) | |
| 5 | g.149977769C= | CA1590737279 | SLC26A2 | n.349C= c.117C= (p.Phe39=) | |
| 5 | g.149977769C>G | CA3505204 | SLC26A2 | n.349C>G c.117C>G (p.Phe39Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977769C>T | CA447401660 | SLC26A2 | n.349C>T c.117C>T (p.Phe39=) | ClinVar dbSNP |
| 5 | g.149977770A>C | CA361704036 | SLC26A2 | n.350A>C c.118A>C (p.Lys40Gln) | gnomAD v4 |
| 5 | g.149977770A>G | CA361704037 | SLC26A2 | n.350A>G c.118A>G (p.Lys40Glu) | |
| 5 | g.149977770A>T | CA361704038 | SLC26A2 | n.350A>T c.118A>T (p.Lys40Ter) | ClinVar |
| 5 | g.149977771A= | CA1590737280 | SLC26A2 | n.351A= c.119A= (p.Lys40=) | |
| 5 | g.149977771A>C | CA361704041 | SLC26A2 | n.351A>C c.119A>C (p.Lys40Thr) | |
| 5 | g.149977771A>G | CA3505205 | SLC26A2 | n.351A>G c.119A>G (p.Lys40Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977771A>T | CA361704043 | SLC26A2 | n.351A>T c.119A>T (p.Lys40Met) | |
| 5 | g.149977772G>A | CA447401663 | SLC26A2 | n.352G>A c.120G>A (p.Lys40=) | |
| 5 | g.149977772G>C | CA361704044 | SLC26A2 | n.352G>C c.120G>C (p.Lys40Asn) | |
| 5 | g.149977772G>T | CA361704045 | SLC26A2 | n.352G>T c.120G>T (p.Lys40Asn) | |
| 5 | g.149977773C>A | CA361704048 | SLC26A2 | n.353C>A c.121C>A (p.Gln41Lys) | |
| 5 | g.149977773C>G | CA361704049 | SLC26A2 | n.353C>G c.121C>G (p.Gln41Glu) | |
| 5 | g.149977773C>T | CA361704051 | SLC26A2 | n.353C>T c.121C>T (p.Gln41Ter) | |
| 5 | g.149977774A= | CA1590737281 | SLC26A2 | n.354A= c.122A= (p.Gln41=) | |
| 5 | g.149977774A>C | CA361704055 | SLC26A2 | n.354A>C c.122A>C (p.Gln41Pro) | |
| 5 | g.149977774A>G | CA361704054 | SLC26A2 | n.354A>G c.122A>G (p.Gln41Arg) | |
| 5 | g.149977774A>T | CA3505206 | SLC26A2 | n.354A>T c.122A>T (p.Gln41Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977775A>C | CA361704057 | SLC26A2 | n.355A>C c.123A>C (p.Gln41His) | |
| 5 | g.149977775A>G | CA447401669 | SLC26A2 | n.355A>G c.123A>G (p.Gln41=) | |
| 5 | g.149977775A>T | CA361704058 | SLC26A2 | n.355A>T c.123A>T (p.Gln41His) | |
| 5 | g.149977776T>A | CA361704059 | SLC26A2 | n.356T>A c.124T>A (p.Phe42Ile) | gnomAD v4 |
| 5 | g.149977776T>C | CA361704061 | SLC26A2 | n.356T>C c.124T>C (p.Phe42Leu) | |
| 5 | g.149977776T>G | CA361704063 | SLC26A2 | n.356T>G c.124T>G (p.Phe42Val) | |
| 5 | g.149977777T>A | CA361704065 | SLC26A2 | n.357T>A c.125T>A (p.Phe42Tyr) | |
| 5 | g.149977777T>C | CA3505207 | SLC26A2 | n.357T>C c.125T>C (p.Phe42Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977777T>G | CA361704067 | SLC26A2 | n.357T>G c.125T>G (p.Phe42Cys) | |
| 5 | g.149977777T= | CA1590737282 | SLC26A2 | n.357T= c.125T= (p.Phe42=) | |
| 5 | g.149977778T>A | CA361704068 | SLC26A2 | n.358T>A c.126T>A (p.Phe42Leu) | |
| 5 | g.149977778T>C | CA447401772 | SLC26A2 | n.358T>C c.126T>C (p.Phe42=) | |
| 5 | g.149977778T>G | CA361704070 | SLC26A2 | n.358T>G c.126T>G (p.Phe42Leu) | |
| 5 | g.149977779G>A | CA361704072 | SLC26A2 | n.359G>A c.127G>A (p.Glu43Lys) | |
| 5 | g.149977779G>C | CA361704073 | SLC26A2 | n.359G>C c.127G>C (p.Glu43Gln) | |
| 5 | g.149977779G>T | CA361704075 | SLC26A2 | n.359G>T c.127G>T (p.Glu43Ter) | |
| 5 | g.149977780A= | CA1590737283 | SLC26A2 | n.360A= c.128A= (p.Glu43=) | |
| 5 | g.149977780A>C | CA361704080 | SLC26A2 | n.360A>C c.128A>C (p.Glu43Ala) | gnomAD v4 |
| 5 | g.149977780A>G | CA361704079 | SLC26A2 | n.360A>G c.128A>G (p.Glu43Gly) | |
| 5 | g.149977780A>T | CA361704077 | SLC26A2 | n.360A>T c.128A>T (p.Glu43Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977781G>A | CA447401773 | SLC26A2 | n.361G>A c.129G>A (p.Glu43=) | |
| 5 | g.149977781G>C | CA361704082 | SLC26A2 | n.361G>C c.129G>C (p.Glu43Asp) | gnomAD v4 |
| 5 | g.149977781G>T | CA361704083 | SLC26A2 | n.361G>T c.129G>T (p.Glu43Asp) | |
| 5 | g.149977782A= | CA1590737284 | SLC26A2 | n.362A= c.130A= (p.Thr44=) | |
| 5 | g.149977782A>C | CA361704085 | SLC26A2 | n.362A>C c.130A>C (p.Thr44Pro) | |
| 5 | g.149977782A>G | CA361704086 | SLC26A2 | n.362A>G c.130A>G (p.Thr44Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977782A>T | CA361704088 | SLC26A2 | n.362A>T c.130A>T (p.Thr44Ser) | |
| 5 | g.149977783C>A | CA361704090 | SLC26A2 | n.363C>A c.131C>A (p.Thr44Asn) | |
| 5 | g.149977783C= | CA1590737285 | SLC26A2 | n.363C= c.131C= (p.Thr44=) | |
| 5 | g.149977783C>G | CA361704092 | SLC26A2 | n.363C>G c.131C>G (p.Thr44Ser) | |
| 5 | g.149977783C>T | CA361704093 | SLC26A2 | n.363C>T c.131C>T (p.Thr44Ile) | dbSNP |
| 5 | g.149977784C>A | CA447401774 | SLC26A2 | n.364C>A c.132C>A (p.Thr44=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149977784C= | CA1590737286 | SLC26A2 | n.364C= c.132C= (p.Thr44=) | |
| 5 | g.149977784C>G | CA447401775 | SLC26A2 | n.364C>G c.132C>G (p.Thr44=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977784C>T | CA447401776 | SLC26A2 | n.364C>T c.132C>T (p.Thr44=) | |
| 5 | g.149977785A>C | CA361704094 | SLC26A2 | n.365A>C c.133A>C (p.Asn45His) | |
| 5 | g.149977785A>G | CA361704095 | SLC26A2 | n.365A>G c.133A>G (p.Asn45Asp) | |
| 5 | g.149977785A>T | CA361704098 | SLC26A2 | n.365A>T c.133A>T (p.Asn45Tyr) | |
| 5 | g.149977786del | CA2695198767 | SLC26A2 | n.366del c.134del (p.Asn45MetfsTer?) | ClinVar |
| 5 | g.149977786A= | CA1590737287 | SLC26A2 | n.366A= c.134A= (p.Asn45=) | |
| 5 | g.149977786A>C | CA361704100 | SLC26A2 | n.366A>C c.134A>C (p.Asn45Thr) | |
| 5 | g.149977786A>G | CA3505208 | SLC26A2 | n.366A>G c.134A>G (p.Asn45Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977786A>T | CA361704102 | SLC26A2 | n.366A>T c.134A>T (p.Asn45Ile) | |
| 5 | g.149977787T>A | CA361704103 | SLC26A2 | n.367T>A c.135T>A (p.Asn45Lys) | |
| 5 | g.149977787T>C | CA447401777 | SLC26A2 | n.367T>C c.135T>C (p.Asn45=) | |
| 5 | g.149977787T>G | CA361704105 | SLC26A2 | n.367T>G c.135T>G (p.Asn45Lys) | |
| 5 | g.149977788G>A | CA361704107 | SLC26A2 | n.368G>A c.136G>A (p.Asp46Asn) | |
| 5 | g.149977788G>C | CA361704109 | SLC26A2 | n.368G>C c.136G>C (p.Asp46His) | |
| 5 | g.149977788G>T | CA361704111 | SLC26A2 | n.368G>T c.136G>T (p.Asp46Tyr) | |
| 5 | g.149977788_149977789insTT | CA2695205643 | SLC26A2 | n.368_369insTT c.136_137insTT (p.Asp46ValfsTer?) | ClinVar |
| 5 | g.149977789A= | CA1590737288 | SLC26A2 | n.369A= c.137A= (p.Asp46=) | |
| 5 | g.149977789A>C | CA361704112 | SLC26A2 | n.369A>C c.137A>C (p.Asp46Ala) | |
| 5 | g.149977789A>G | CA361704114 | SLC26A2 | n.369A>G c.137A>G (p.Asp46Gly) | |
| 5 | g.149977789A>T | CA361704115 | SLC26A2 | n.369A>T c.137A>T (p.Asp46Val) | |
| 5 | g.149977790T>A | CA361704117 | SLC26A2 | n.370T>A c.138T>A (p.Asp46Glu) | |
| 5 | g.149977790T>C | CA3505209 | SLC26A2 | n.370T>C c.138T>C (p.Asp46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977790T>G | CA361704119 | SLC26A2 | n.370T>G c.138T>G (p.Asp46Glu) | |
| 5 | g.149977790T= | CA1590737289 | SLC26A2 | n.370T= c.138T= (p.Asp46=) | |
| 5 | g.149977790dup | CA1139659135 | SLC26A2 | n.370dup c.138dup (p.Gln47SerfsTer7) | ClinVar dbSNP |
| 5 | g.149977791C>A | CA361704120 | SLC26A2 | n.371C>A c.139C>A (p.Gln47Lys) | dbSNP |
| 5 | g.149977791C= | CA1590737290 | SLC26A2 | n.371C= c.139C= (p.Gln47=) | |
| 5 | g.149977791C>G | CA361704121 | SLC26A2 | n.371C>G c.139C>G (p.Gln47Glu) | |
| 5 | g.149977791C>T | CA361704122 | SLC26A2 | n.371C>T c.139C>T (p.Gln47Ter) | ClinVar gnomAD v4 |
| 5 | g.149977792A>C | CA361704124 | SLC26A2 | n.372A>C c.140A>C (p.Gln47Pro) | |
| 5 | g.149977792A>G | CA361704128 | SLC26A2 | n.372A>G c.140A>G (p.Gln47Arg) | gnomAD v4 |
| 5 | g.149977792A>T | CA361704126 | SLC26A2 | n.372A>T c.140A>T (p.Gln47Leu) | |
| 5 | g.149977793A= | CA1590737291 | SLC26A2 | n.373A= c.141A= (p.Gln47=) | |
| 5 | g.149977793A>C | CA361704129 | SLC26A2 | n.373A>C c.141A>C (p.Gln47His) | |
| 5 | g.149977793A>G | CA447401778 | SLC26A2 | n.373A>G c.141A>G (p.Gln47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977793A>T | CA361704131 | SLC26A2 | n.373A>T c.141A>T (p.Gln47His) | dbSNP |
| 5 | g.149977794T>A | CA361704133 | SLC26A2 | n.374T>A c.142T>A (p.Cys48Ser) | |
| 5 | g.149977794T>C | CA361704135 | SLC26A2 | n.374T>C c.142T>C (p.Cys48Arg) | |
| 5 | g.149977794T>G | CA361704136 | SLC26A2 | n.374T>G c.142T>G (p.Cys48Gly) | gnomAD v4 |
| 5 | g.149977795G>A | CA361704138 | SLC26A2 | n.375G>A c.143G>A (p.Cys48Tyr) | |
| 5 | g.149977795G>C | CA361704139 | SLC26A2 | n.375G>C c.143G>C (p.Cys48Ser) | |
| 5 | g.149977795G>T | CA361704141 | SLC26A2 | n.375G>T c.143G>T (p.Cys48Phe) | |
| 5 | g.149977796C>A | CA361704143 | SLC26A2 | n.376C>A c.144C>A (p.Cys48Ter) | |
| 5 | g.149977796C= | CA1590737293 | SLC26A2 | n.376C= c.144C= (p.Cys48=) | |
| 5 | g.149977796C>G | CA361704144 | SLC26A2 | n.376C>G c.144C>G (p.Cys48Trp) | |
| 5 | g.149977796C>T | CA129082254 | SLC26A2 | n.376C>T c.144C>T (p.Cys48=) | ClinVar dbSNP |
| 5 | g.149977796_149977797delinsCA | CA1590737292 | SLC26A2 | n.376_377delinsCA c.144_145delinsCA (p.Cys48=) | |
| 5 | g.149977797del | CA563955676 | SLC26A2 | n.377del c.145del (p.Arg49AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977797A>C | CA447401779 | SLC26A2 | n.377A>C c.145A>C (p.Arg49=) | |
| 5 | g.149977797A>G | CA361704145 | SLC26A2 | n.377A>G c.145A>G (p.Arg49Gly) | |
| 5 | g.149977797A>T | CA361704146 | SLC26A2 | n.377A>T c.145A>T (p.Arg49Ter) | |
| 5 | g.149977798G>A | CA361704148 | SLC26A2 | n.378G>A c.146G>A (p.Arg49Lys) | |
| 5 | g.149977798G>C | CA361704149 | SLC26A2 | n.378G>C c.146G>C (p.Arg49Thr) | |
| 5 | g.149977798G>T | CA361704151 | SLC26A2 | n.378G>T c.146G>T (p.Arg49Ile) | |
| 5 | g.149977799A= | CA1590737294 | SLC26A2 | n.379A= c.147A= (p.Arg49=) | |
| 5 | g.149977799A>C | CA361704152 | SLC26A2 | n.379A>C c.147A>C (p.Arg49Ser) | |
| 5 | g.149977799A>G | CA447401780 | SLC26A2 | n.379A>G c.147A>G (p.Arg49=) | dbSNP |
| 5 | g.149977799A>T | CA361704153 | SLC26A2 | n.379A>T c.147A>T (p.Arg49Ser) | dbSNP |
| 5 | g.149977799_149977800insT | CA2740693910 | SLC26A2 | n.379_380insT c.147_148insT (p.Pro50SerfsTer4) | |
| 5 | g.149977800C>A | CA361704155 | SLC26A2 | n.380C>A c.148C>A (p.Pro50Thr) | |
| 5 | g.149977800C>G | CA361704157 | SLC26A2 | n.380C>G c.148C>G (p.Pro50Ala) | |
| 5 | g.149977800C>T | CA361704159 | SLC26A2 | n.380C>T c.148C>T (p.Pro50Ser) | |
| 5 | g.149977801C>A | CA361704160 | SLC26A2 | n.381C>A c.149C>A (p.Pro50His) | |
| 5 | g.149977801C= | CA1590737295 | SLC26A2 | n.381C= c.149C= (p.Pro50=) | |
| 5 | g.149977801C>G | CA361704161 | SLC26A2 | n.381C>G c.149C>G (p.Pro50Arg) | |
| 5 | g.149977801C>T | CA361704162 | SLC26A2 | n.381C>T c.149C>T (p.Pro50Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149977802T>A | CA447401781 | SLC26A2 | n.382T>A c.150T>A (p.Pro50=) | |
| 5 | g.149977802T>C | CA447401783 | SLC26A2 | n.382T>C c.150T>C (p.Pro50=) | |
| 5 | g.149977802T>G | CA447401782 | SLC26A2 | n.382T>G c.150T>G (p.Pro50=) | |
| 5 | g.149977803T>A | CA361704164 | SLC26A2 | n.383T>A c.151T>A (p.Tyr51Asn) | |
| 5 | g.149977803T>C | CA361704166 | SLC26A2 | n.383T>C c.151T>C (p.Tyr51His) | |
| 5 | g.149977803T>G | CA361704167 | SLC26A2 | n.383T>G c.151T>G (p.Tyr51Asp) | |
| 5 | g.149977803_149977804insTATTTTCAACATTTAGCAGGTTGTTTAAAAAGGGACCAAAACA | CA2740693911 | SLC26A2 | n.383_384insTATTTTCAACATTTAGCAGGTTGTTTAAAAAGGGACCAAAACA c.151_152insTATTTTCAACATTTAGCAGGTTGTTTAAAAAGGGACCAAAACA (p.Tyr51LeufsTer17) | |
| 5 | g.149977804A>C | CA361704169 | SLC26A2 | n.384A>C c.152A>C (p.Tyr51Ser) | |
| 5 | g.149977804A>G | CA361704170 | SLC26A2 | n.384A>G c.152A>G (p.Tyr51Cys) | |
| 5 | g.149977804A>T | CA361704172 | SLC26A2 | n.384A>T c.152A>T (p.Tyr51Phe) | |
| 5 | g.149977806_149977808del | CA2675943461 | SLC26A2 | n.386_388del c.154_156del (p.His52del) | gnomAD v4 |
| 5 | g.149977805T>A | CA361704174 | SLC26A2 | n.385T>A c.153T>A (p.Tyr51Ter) | |
| 5 | g.149977805T>C | CA447401784 | SLC26A2 | n.385T>C c.153T>C (p.Tyr51=) | dbSNP |
| 5 | g.149977805T>G | CA361704176 | SLC26A2 | n.385T>G c.153T>G (p.Tyr51Ter) | |
| 5 | g.149977805T= | CA1590737296 | SLC26A2 | n.385T= c.153T= (p.Tyr51=) | |
| 5 | g.149977806C>A | CA361704177 | SLC26A2 | n.386C>A c.154C>A (p.His52Asn) | |
| 5 | g.149977806C= | CA1590737297 | SLC26A2 | n.386C= c.154C= (p.His52=) | |
| 5 | g.149977806C>G | CA361704179 | SLC26A2 | n.386C>G c.154C>G (p.His52Asp) | |
| 5 | g.149977806C>T | CA3505210 | SLC26A2 | n.386C>T c.154C>T (p.His52Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149977807A= | CA1590737298 | SLC26A2 | n.387A= c.155A= (p.His52=) | |
| 5 | g.149977807A>C | CA361704181 | SLC26A2 | n.387A>C c.155A>C (p.His52Pro) | |
| 5 | g.149977807A>G | CA361704182 | SLC26A2 | n.387A>G c.155A>G (p.His52Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149977807A>T | CA361704183 | SLC26A2 | n.387A>T c.155A>T (p.His52Leu) | |
| 5 | g.149977808T>A | CA361704184 | SLC26A2 | n.388T>A c.156T>A (p.His52Gln) | |
| 5 | g.149977808T>C | CA447401785 | SLC26A2 | n.388T>C c.156T>C (p.His52=) | |
| 5 | g.149977808T>G | CA361704186 | SLC26A2 | n.388T>G c.156T>G (p.His52Gln) | |
| 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 |