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.149981456C>A | CA447402841 | SLC26A2 | c.1863C>A (p.Ile621=) c.372+3105C>A (n.372+3105C>A) | |
| 5 | g.149981456C>G | CA361709127 | SLC26A2 | c.1863C>G (p.Ile621Met) c.372+3105C>G (n.372+3105C>G) | COSMIC |
| 5 | g.149981456C>T | CA447402840 | SLC26A2 | c.1863C>T (p.Ile621=) c.372+3105C>T (n.372+3105C>T) | |
| 5 | g.149981457A= | CA1590738789 | SLC26A2 | c.1864A= (p.Lys622=) c.372+3106A= (n.372+3106A=) | |
| 5 | g.149981457A>C | CA361709129 | SLC26A2 | c.1864A>C (p.Lys622Gln) c.372+3106A>C (n.372+3106A>C) | gnomAD v4 |
| 5 | g.149981457A>G | CA361709132 | SLC26A2 | c.1864A>G (p.Lys622Glu) c.372+3106A>G (n.372+3106A>G) | |
| 5 | g.149981457A>T | CA361709131 | SLC26A2 | c.1864A>T (p.Lys622Ter) c.372+3106A>T (n.372+3106A>T) | dbSNP |
| 5 | g.149981458A= | CA1590738790 | SLC26A2 | c.1865A= (p.Lys622=) c.372+3107A= (n.372+3107A=) | |
| 5 | g.149981458A>C | CA361709133 | SLC26A2 | c.1865A>C (p.Lys622Thr) c.372+3107A>C (n.372+3107A>C) | |
| 5 | g.149981458A>G | CA361709135 | SLC26A2 | c.1865A>G (p.Lys622Arg) c.372+3107A>G (n.372+3107A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981458A>T | CA361709137 | SLC26A2 | c.1865A>T (p.Lys622Ile) c.372+3107A>T (n.372+3107A>T) | |
| 5 | g.149981459A>C | CA361709139 | SLC26A2 | c.1866A>C (p.Lys622Asn) c.372+3108A>C (n.372+3108A>C) | |
| 5 | g.149981459A>G | CA447402845 | SLC26A2 | c.1866A>G (p.Lys622=) c.372+3108A>G (n.372+3108A>G) | |
| 5 | g.149981459A>T | CA361709141 | SLC26A2 | c.1866A>T (p.Lys622Asn) c.372+3108A>T (n.372+3108A>T) | |
| 5 | g.149981460G>A | CA361709143 | SLC26A2 | c.1867G>A (p.Glu623Lys) c.372+3109G>A (n.372+3109G>A) | |
| 5 | g.149981460G>C | CA361709145 | SLC26A2 | c.1867G>C (p.Glu623Gln) c.372+3109G>C (n.372+3109G>C) | |
| 5 | g.149981460G>T | CA361709147 | SLC26A2 | c.1867G>T (p.Glu623Ter) c.372+3109G>T (n.372+3109G>T) | |
| 5 | g.149981460dup | CA2675943655 | SLC26A2 | c.1867dup (p.Glu623GlyfsTer12) c.372+3109dup (n.372+3109dup) | gnomAD v4 |
| 5 | g.149981461A>C | CA361709148 | SLC26A2 | c.1868A>C (p.Glu623Ala) c.372+3110A>C (n.372+3110A>C) | |
| 5 | g.149981461A>G | CA361709151 | SLC26A2 | c.1868A>G (p.Glu623Gly) c.372+3110A>G (n.372+3110A>G) | |
| 5 | g.149981461A>T | CA361709153 | SLC26A2 | c.1868A>T (p.Glu623Val) c.372+3110A>T (n.372+3110A>T) | |
| 5 | g.149981462A>C | CA361709155 | SLC26A2 | c.1869A>C (p.Glu623Asp) c.372+3111A>C (n.372+3111A>C) | |
| 5 | g.149981462A>G | CA447402847 | SLC26A2 | c.1869A>G (p.Glu623=) c.372+3111A>G (n.372+3111A>G) | |
| 5 | g.149981462A>T | CA361709157 | SLC26A2 | c.1869A>T (p.Glu623Asp) c.372+3111A>T (n.372+3111A>T) | |
| 5 | g.149981463A>C | CA361709164 | SLC26A2 | c.1870A>C (p.Lys624Gln) c.372+3112A>C (n.372+3112A>C) | |
| 5 | g.149981463A>G | CA361709160 | SLC26A2 | c.1870A>G (p.Lys624Glu) c.372+3112A>G (n.372+3112A>G) | |
| 5 | g.149981463A>T | CA361709162 | SLC26A2 | c.1870A>T (p.Lys624Ter) c.372+3112A>T (n.372+3112A>T) | |
| 5 | g.149981464A>C | CA361709167 | SLC26A2 | c.1871A>C (p.Lys624Thr) c.372+3113A>C (n.372+3113A>C) | |
| 5 | g.149981464A>G | CA361709168 | SLC26A2 | c.1871A>G (p.Lys624Arg) c.372+3113A>G (n.372+3113A>G) | |
| 5 | g.149981464A>T | CA361709170 | SLC26A2 | c.1871A>T (p.Lys624Ile) c.372+3113A>T (n.372+3113A>T) | |
| 5 | g.149981464_149981467delinsAAGT | CA1590738791 | SLC26A2 | c.1871_1874delinsAAGT (p.Lys624=) c.372+3113_372+3116delinsAAGT (n.372+3113_372+3116delinsAAGT) | |
| 5 | g.149981465A>C | CA361709172 | SLC26A2 | c.1872A>C (p.Lys624Asn) c.372+3114A>C (n.372+3114A>C) | gnomAD v4 |
| 5 | g.149981465A>G | CA447402849 | SLC26A2 | c.1872A>G (p.Lys624=) c.372+3114A>G (n.372+3114A>G) | ClinVar dbSNP |
| 5 | g.149981465A>T | CA361709174 | SLC26A2 | c.1872A>T (p.Lys624Asn) c.372+3114A>T (n.372+3114A>T) | |
| 5 | g.149981468_149981470del | CA563955705 | SLC26A2 | c.1875_1877del (p.Val626del) c.372+3117_372+3119del (n.372+3117_372+3119del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981466G>A | CA361709176 | SLC26A2 | c.1873G>A (p.Val625Ile) c.372+3115G>A (n.372+3115G>A) | |
| 5 | g.149981466G>C | CA361709177 | SLC26A2 | c.1873G>C (p.Val625Leu) c.372+3115G>C (n.372+3115G>C) | |
| 5 | g.149981466G>T | CA361709179 | SLC26A2 | c.1873G>T (p.Val625Leu) c.372+3115G>T (n.372+3115G>T) | |
| 5 | g.149981467T>A | CA361709181 | SLC26A2 | c.1874T>A (p.Val625Glu) c.372+3116T>A (n.372+3116T>A) | |
| 5 | g.149981467T>C | CA361709182 | SLC26A2 | c.1874T>C (p.Val625Ala) c.372+3116T>C (n.372+3116T>C) | gnomAD v4 |
| 5 | g.149981467T>G | CA361709184 | SLC26A2 | c.1874T>G (p.Val625Gly) c.372+3116T>G (n.372+3116T>G) | |
| 5 | g.149981468A>C | CA447402852 | SLC26A2 | c.1875A>C (p.Val625=) c.372+3117A>C (n.372+3117A>C) | |
| 5 | g.149981468A>G | CA447402853 | SLC26A2 | c.1875A>G (p.Val625=) c.372+3117A>G (n.372+3117A>G) | |
| 5 | g.149981468A>T | CA447402854 | SLC26A2 | c.1875A>T (p.Val625=) c.372+3117A>T (n.372+3117A>T) | |
| 5 | g.149981469G>A | CA361709188 | SLC26A2 | c.1876G>A (p.Val626Met) c.372+3118G>A (n.372+3118G>A) | gnomAD v4 |
| 5 | g.149981469G>C | CA361709192 | SLC26A2 | c.1876G>C (p.Val626Leu) c.372+3118G>C (n.372+3118G>C) | COSMIC |
| 5 | g.149981469G>T | CA361709190 | SLC26A2 | c.1876G>T (p.Val626Leu) c.372+3118G>T (n.372+3118G>T) | |
| 5 | g.149981470T>A | CA361709194 | SLC26A2 | c.1877T>A (p.Val626Glu) c.372+3119T>A (n.372+3119T>A) | |
| 5 | g.149981470T>C | CA361709198 | SLC26A2 | c.1877T>C (p.Val626Ala) c.372+3119T>C (n.372+3119T>C) | |
| 5 | g.149981470T>G | CA361709196 | SLC26A2 | c.1877T>G (p.Val626Gly) c.372+3119T>G (n.372+3119T>G) | gnomAD v4 |
| 5 | g.149981470_149981471delinsTG | CA1590738792 | SLC26A2 | c.1877_1878delinsTG (p.Val626=) c.372+3119_372+3120delinsTG (n.372+3119_372+3120delinsTG) | |
| 5 | g.149981471del | CA1139659145 | SLC26A2 | c.1878del (p.Thr627LeufsTer23) c.372+3120del (n.372+3120del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981471G>A | CA447402858 | SLC26A2 | c.1878G>A (p.Val626=) c.372+3120G>A (n.372+3120G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981471G>C | CA447402856 | SLC26A2 | c.1878G>C (p.Val626=) c.372+3120G>C (n.372+3120G>C) | gnomAD v4 |
| 5 | g.149981471G= | CA1590738793 | SLC26A2 | c.1878G= (p.Val626=) c.372+3120G= (n.372+3120G=) | |
| 5 | g.149981471G>T | CA447402857 | SLC26A2 | c.1878G>T (p.Val626=) c.372+3120G>T (n.372+3120G>T) | |
| 5 | g.149981472A>C | CA361709200 | SLC26A2 | c.1879A>C (p.Thr627Pro) c.372+3121A>C (n.372+3121A>C) | |
| 5 | g.149981472A>G | CA361709202 | SLC26A2 | c.1879A>G (p.Thr627Ala) c.372+3121A>G (n.372+3121A>G) | gnomAD v4 |
| 5 | g.149981472A>T | CA361709204 | SLC26A2 | c.1879A>T (p.Thr627Ser) c.372+3121A>T (n.372+3121A>T) | |
| 5 | g.149981473C>A | CA361709206 | SLC26A2 | c.1880C>A (p.Thr627Asn) c.372+3122C>A (n.372+3122C>A) | |
| 5 | g.149981473C= | CA1590738794 | SLC26A2 | c.1880C= (p.Thr627=) c.372+3122C= (n.372+3122C=) | |
| 5 | g.149981473C>G | CA361709208 | SLC26A2 | c.1880C>G (p.Thr627Ser) c.372+3122C>G (n.372+3122C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981473C>T | CA361709209 | SLC26A2 | c.1880C>T (p.Thr627Ile) c.372+3122C>T (n.372+3122C>T) | |
| 5 | g.149981474T>A | CA447402861 | SLC26A2 | c.1881T>A (p.Thr627=) c.372+3123T>A (n.372+3123T>A) | |
| 5 | g.149981474T>C | CA447402863 | SLC26A2 | c.1881T>C (p.Thr627=) c.372+3123T>C (n.372+3123T>C) | |
| 5 | g.149981474T>G | CA447402864 | SLC26A2 | c.1881T>G (p.Thr627=) c.372+3123T>G (n.372+3123T>G) | |
| 5 | g.149981475C>A | CA361709211 | SLC26A2 | c.1882C>A (p.Leu628Ile) c.372+3124C>A (n.372+3124C>A) | |
| 5 | g.149981475C= | CA1590738795 | SLC26A2 | c.1882C= (p.Leu628=) c.372+3124C= (n.372+3124C=) | |
| 5 | g.149981475C>G | CA3505510 | SLC26A2 | c.1882C>G (p.Leu628Val) c.372+3124C>G (n.372+3124C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981475C>T | CA3505511 | SLC26A2 | c.1882C>T (p.Leu628Phe) c.372+3124C>T (n.372+3124C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981476T>A | CA361709215 | SLC26A2 | c.1883T>A (p.Leu628His) c.372+3125T>A (n.372+3125T>A) | |
| 5 | g.149981476T>C | CA361709216 | SLC26A2 | c.1883T>C (p.Leu628Pro) c.372+3125T>C (n.372+3125T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981476T>G | CA361709218 | SLC26A2 | c.1883T>G (p.Leu628Arg) c.372+3125T>G (n.372+3125T>G) | |
| 5 | g.149981476T= | CA1590738796 | SLC26A2 | c.1883T= (p.Leu628=) c.372+3125T= (n.372+3125T=) | |
| 5 | g.149981477T>A | CA447402866 | SLC26A2 | c.1884T>A (p.Leu628=) c.372+3126T>A (n.372+3126T>A) | |
| 5 | g.149981477T>C | CA447402865 | SLC26A2 | c.1884T>C (p.Leu628=) c.372+3126T>C (n.372+3126T>C) | |
| 5 | g.149981477T>G | CA447402867 | SLC26A2 | c.1884T>G (p.Leu628=) c.372+3126T>G (n.372+3126T>G) | |
| 5 | g.149981478G>A | CA361709220 | SLC26A2 | c.1885G>A (p.Gly629Ser) c.372+3127G>A (n.372+3127G>A) | gnomAD v4 |
| 5 | g.149981478G>C | CA361709224 | SLC26A2 | c.1885G>C (p.Gly629Arg) c.372+3127G>C (n.372+3127G>C) | |
| 5 | g.149981478G>T | CA361709222 | SLC26A2 | c.1885G>T (p.Gly629Cys) c.372+3127G>T (n.372+3127G>T) | |
| 5 | g.149981479G>A | CA361709226 | SLC26A2 | c.1886G>A (p.Gly629Asp) c.372+3128G>A (n.372+3128G>A) | |
| 5 | g.149981479G>C | CA361709228 | SLC26A2 | c.1886G>C (p.Gly629Ala) c.372+3128G>C (n.372+3128G>C) | |
| 5 | g.149981479G>T | CA361709230 | SLC26A2 | c.1886G>T (p.Gly629Val) c.372+3128G>T (n.372+3128G>T) | |
| 5 | g.149981480T>A | CA447402869 | SLC26A2 | c.1887T>A (p.Gly629=) c.372+3129T>A (n.372+3129T>A) | |
| 5 | g.149981480T>C | CA447402870 | SLC26A2 | c.1887T>C (p.Gly629=) c.372+3129T>C (n.372+3129T>C) | |
| 5 | g.149981480T>G | CA447402871 | SLC26A2 | c.1887T>G (p.Gly629=) c.372+3129T>G (n.372+3129T>G) | gnomAD v4 |
| 5 | g.149981481G>A | CA361709232 | SLC26A2 | c.1888G>A (p.Gly630Arg) c.372+3130G>A (n.372+3130G>A) | gnomAD v4 |
| 5 | g.149981481G>C | CA361709234 | SLC26A2 | c.1888G>C (p.Gly630Arg) c.372+3130G>C (n.372+3130G>C) | |
| 5 | g.149981481G= | CA1590738797 | SLC26A2 | c.1888G= (p.Gly630=) c.372+3130G= (n.372+3130G=) | |
| 5 | g.149981481G>T | CA3505512 | SLC26A2 | c.1888G>T (p.Gly630Ter) c.372+3130G>T (n.372+3130G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981482del | CA2675943656 | SLC26A2 | c.1889del (p.Gly630GlufsTer20) c.372+3131del (n.372+3131del) | gnomAD v4 |
| 5 | g.149981482G>A | CA361709236 | SLC26A2 | c.1889G>A (p.Gly630Glu) c.372+3131G>A (n.372+3131G>A) | |
| 5 | g.149981482G>C | CA361709238 | SLC26A2 | c.1889G>C (p.Gly630Ala) c.372+3131G>C (n.372+3131G>C) | |
| 5 | g.149981482G>T | CA361709239 | SLC26A2 | c.1889G>T (p.Gly630Val) c.372+3131G>T (n.372+3131G>T) | |
| 5 | g.149981483A>C | CA447402874 | SLC26A2 | c.1890A>C (p.Gly630=) c.372+3132A>C (n.372+3132A>C) | |
| 5 | g.149981483A>G | CA447402876 | SLC26A2 | c.1890A>G (p.Gly630=) c.372+3132A>G (n.372+3132A>G) | |
| 5 | g.149981483A>T | CA447402877 | SLC26A2 | c.1890A>T (p.Gly630=) c.372+3132A>T (n.372+3132A>T) | |
| 5 | g.149981484A>C | CA361709244 | SLC26A2 | c.1891A>C (p.Ile631Leu) c.372+3133A>C (n.372+3133A>C) | |
| 5 | g.149981484A>G | CA361709245 | SLC26A2 | c.1891A>G (p.Ile631Val) c.372+3133A>G (n.372+3133A>G) | |
| 5 | g.149981484A>T | CA361709242 | SLC26A2 | c.1891A>T (p.Ile631Phe) c.372+3133A>T (n.372+3133A>T) | |
| 5 | g.149981485T>A | CA361709248 | SLC26A2 | c.1892T>A (p.Ile631Asn) c.372+3134T>A (n.372+3134T>A) | |
| 5 | g.149981485T>C | CA361709250 | SLC26A2 | c.1892T>C (p.Ile631Thr) c.372+3134T>C (n.372+3134T>C) | |
| 5 | g.149981485T>G | CA361709252 | SLC26A2 | c.1892T>G (p.Ile631Ser) c.372+3134T>G (n.372+3134T>G) | |
| 5 | g.149981486C>A | CA447402879 | SLC26A2 | c.1893C>A (p.Ile631=) c.372+3135C>A (n.372+3135C>A) | |
| 5 | g.149981486C>G | CA361709253 | SLC26A2 | c.1893C>G (p.Ile631Met) c.372+3135C>G (n.372+3135C>G) | |
| 5 | g.149981486C>T | CA447402881 | SLC26A2 | c.1893C>T (p.Ile631=) c.372+3135C>T (n.372+3135C>T) | |
| 5 | g.149981487C>A | CA361709255 | SLC26A2 | c.1894C>A (p.Gln632Lys) c.372+3136C>A (n.372+3136C>A) | |
| 5 | g.149981487C>G | CA361709257 | SLC26A2 | c.1894C>G (p.Gln632Glu) c.372+3136C>G (n.372+3136C>G) | |
| 5 | g.149981487C>T | CA361709259 | SLC26A2 | c.1894C>T (p.Gln632Ter) c.372+3136C>T (n.372+3136C>T) | |
| 5 | g.149981488A>C | CA361709261 | SLC26A2 | c.1895A>C (p.Gln632Pro) c.372+3137A>C (n.372+3137A>C) | |
| 5 | g.149981488A>G | CA361709262 | SLC26A2 | c.1895A>G (p.Gln632Arg) c.372+3137A>G (n.372+3137A>G) | gnomAD v4 |
| 5 | g.149981488A>T | CA361709264 | SLC26A2 | c.1895A>T (p.Gln632Leu) c.372+3137A>T (n.372+3137A>T) | |
| 5 | g.149981489G>A | CA447402922 | SLC26A2 | c.1896G>A (p.Gln632=) c.372+3138G>A (n.372+3138G>A) | |
| 5 | g.149981489G>C | CA361709267 | SLC26A2 | c.1896G>C (p.Gln632His) c.372+3138G>C (n.372+3138G>C) | |
| 5 | g.149981489G>T | CA361709268 | SLC26A2 | c.1896G>T (p.Gln632His) c.372+3138G>T (n.372+3138G>T) | |
| 5 | g.149981490G>A | CA3505513 | SLC26A2 | c.1897G>A (p.Asp633Asn) c.372+3139G>A (n.372+3139G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981490G>C | CA361709273 | SLC26A2 | c.1897G>C (p.Asp633His) c.372+3139G>C (n.372+3139G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981490G= | CA1590738798 | SLC26A2 | c.1897G= (p.Asp633=) c.372+3139G= (n.372+3139G=) | |
| 5 | g.149981490G>T | CA361709271 | SLC26A2 | c.1897G>T (p.Asp633Tyr) c.372+3139G>T (n.372+3139G>T) | |
| 5 | g.149981491A= | CA1590738799 | SLC26A2 | c.1898A= (p.Asp633=) c.372+3140A= (n.372+3140A=) | |
| 5 | g.149981491A>C | CA361709275 | SLC26A2 | c.1898A>C (p.Asp633Ala) c.372+3140A>C (n.372+3140A>C) | |
| 5 | g.149981491A>G | CA361709277 | SLC26A2 | c.1898A>G (p.Asp633Gly) c.372+3140A>G (n.372+3140A>G) | |
| 5 | g.149981491A>T | CA361709278 | SLC26A2 | c.1898A>T (p.Asp633Val) c.372+3140A>T (n.372+3140A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981492T>A | CA361709279 | SLC26A2 | c.1899T>A (p.Asp633Glu) c.372+3141T>A (n.372+3141T>A) | |
| 5 | g.149981492T>C | CA447402923 | SLC26A2 | c.1899T>C (p.Asp633=) c.372+3141T>C (n.372+3141T>C) | |
| 5 | g.149981492T>G | CA361709281 | SLC26A2 | c.1899T>G (p.Asp633Glu) c.372+3141T>G (n.372+3141T>G) | |
| 5 | g.149981493G>A | CA361709286 | SLC26A2 | c.1900G>A (p.Glu634Lys) c.372+3142G>A (n.372+3142G>A) | dbSNP gnomAD v4 |
| 5 | g.149981493G>C | CA361709282 | SLC26A2 | c.1900G>C (p.Glu634Gln) c.372+3142G>C (n.372+3142G>C) | |
| 5 | g.149981493G= | CA1590738800 | SLC26A2 | c.1900G= (p.Glu634=) c.372+3142G= (n.372+3142G=) | |
| 5 | g.149981493G>T | CA361709284 | SLC26A2 | c.1900G>T (p.Glu634Ter) c.372+3142G>T (n.372+3142G>T) | |
| 5 | g.149981494A>C | CA361709288 | SLC26A2 | c.1901A>C (p.Glu634Ala) c.372+3143A>C (n.372+3143A>C) | |
| 5 | g.149981494A>G | CA361709289 | SLC26A2 | c.1901A>G (p.Glu634Gly) c.372+3143A>G (n.372+3143A>G) | |
| 5 | g.149981494A>T | CA361709291 | SLC26A2 | c.1901A>T (p.Glu634Val) c.372+3143A>T (n.372+3143A>T) | |
| 5 | g.149981495A= | CA1590738801 | SLC26A2 | c.1902A= (p.Glu634=) c.372+3144A= (n.372+3144A=) | |
| 5 | g.149981495A>C | CA361709293 | SLC26A2 | c.1902A>C (p.Glu634Asp) c.372+3144A>C (n.372+3144A>C) | |
| 5 | g.149981495A>G | CA447402924 | SLC26A2 | c.1902A>G (p.Glu634=) c.372+3144A>G (n.372+3144A>G) | dbSNP |
| 5 | g.149981495A>T | CA361709294 | SLC26A2 | c.1902A>T (p.Glu634Asp) c.372+3144A>T (n.372+3144A>T) | |
| 5 | g.149981495_149981496insGGTTCTTGT | CA917607705 | SLC26A2 | c.1902_1903insGGTTCTTGT (p.Glu634_Met635insGlySerCys) c.372+3144_372+3145insGGTTCTTGT (n.372+3144_372+3145insGGTTCTTGT) | dbSNP |
| 5 | g.149981496A>C | CA361709301 | SLC26A2 | c.1903A>C (p.Met635Leu) c.372+3145A>C (n.372+3145A>C) | |
| 5 | g.149981496A>G | CA361709299 | SLC26A2 | c.1903A>G (p.Met635Val) c.372+3145A>G (n.372+3145A>G) | gnomAD v4 |
| 5 | g.149981496A>T | CA361709297 | SLC26A2 | c.1903A>T (p.Met635Leu) c.372+3145A>T (n.372+3145A>T) | |
| 5 | g.149981497T>A | CA361709303 | SLC26A2 | c.1904T>A (p.Met635Lys) c.372+3146T>A (n.372+3146T>A) | |
| 5 | g.149981497T>C | CA361709307 | SLC26A2 | c.1904T>C (p.Met635Thr) c.372+3146T>C (n.372+3146T>C) | |
| 5 | g.149981497T>G | CA361709305 | SLC26A2 | c.1904T>G (p.Met635Arg) c.372+3146T>G (n.372+3146T>G) | |
| 5 | g.149981498G>A | CA129084710 | SLC26A2 | c.1905G>A (p.Met635Ile) c.372+3147G>A (n.372+3147G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981498G>C | CA361709312 | SLC26A2 | c.1905G>C (p.Met635Ile) c.372+3147G>C (n.372+3147G>C) | dbSNP |
| 5 | g.149981498G= | CA1590738802 | SLC26A2 | c.1905G= (p.Met635=) c.372+3147G= (n.372+3147G=) | |
| 5 | g.149981498G>T | CA361709310 | SLC26A2 | c.1905G>T (p.Met635Ile) c.372+3147G>T (n.372+3147G>T) | |
| 5 | g.149981499T>A | CA361709315 | SLC26A2 | c.1906T>A (p.Ser636Thr) c.372+3148T>A (n.372+3148T>A) | |
| 5 | g.149981499T>C | CA361709318 | SLC26A2 | c.1906T>C (p.Ser636Pro) c.372+3148T>C (n.372+3148T>C) | |
| 5 | g.149981499T>G | CA361709317 | SLC26A2 | c.1906T>G (p.Ser636Ala) c.372+3148T>G (n.372+3148T>G) | |
| 5 | g.149981500C>A | CA361709321 | SLC26A2 | c.1907C>A (p.Ser636Ter) c.372+3149C>A (n.372+3149C>A) | gnomAD v4 |
| 5 | g.149981500C= | CA1590738803 | SLC26A2 | c.1907C= (p.Ser636=) c.372+3149C= (n.372+3149C=) | |
| 5 | g.149981500C>G | CA361709322 | SLC26A2 | c.1907C>G (p.Ser636Ter) c.372+3149C>G (n.372+3149C>G) | |
| 5 | g.149981500C>T | CA129084715 | SLC26A2 | c.1907C>T (p.Ser636Leu) c.372+3149C>T (n.372+3149C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981501A= | CA1590738804 | SLC26A2 | c.1908A= (p.Ser636=) c.372+3150A= (n.372+3150A=) | |
| 5 | g.149981501A>C | CA447402925 | SLC26A2 | c.1908A>C (p.Ser636=) c.372+3150A>C (n.372+3150A>C) | |
| 5 | g.149981501A>G | CA3505514 | SLC26A2 | c.1908A>G (p.Ser636=) c.372+3150A>G (n.372+3150A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149981501A>T | CA447402926 | SLC26A2 | c.1908A>T (p.Ser636=) c.372+3150A>T (n.372+3150A>T) | |
| 5 | g.149981502G>A | CA3505515 | SLC26A2 | c.1909G>A (p.Val637Met) c.372+3151G>A (n.372+3151G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981502G>C | CA361709328 | SLC26A2 | c.1909G>C (p.Val637Leu) c.372+3151G>C (n.372+3151G>C) | |
| 5 | g.149981502G= | CA1590738805 | SLC26A2 | c.1909G= (p.Val637=) c.372+3151G= (n.372+3151G=) | |
| 5 | g.149981502G>T | CA361709330 | SLC26A2 | c.1909G>T (p.Val637Leu) c.372+3151G>T (n.372+3151G>T) | |
| 5 | g.149981503T>A | CA361709333 | SLC26A2 | c.1910T>A (p.Val637Glu) c.372+3152T>A (n.372+3152T>A) | gnomAD v4 |
| 5 | g.149981503T>C | CA361709334 | SLC26A2 | c.1910T>C (p.Val637Ala) c.372+3152T>C (n.372+3152T>C) | gnomAD v4 |
| 5 | g.149981503T>G | CA361709336 | SLC26A2 | c.1910T>G (p.Val637Gly) c.372+3152T>G (n.372+3152T>G) | |
| 5 | g.149981504G>A | CA447402929 | SLC26A2 | c.1911G>A (p.Val637=) c.372+3153G>A (n.372+3153G>A) | dbSNP |
| 5 | g.149981504G>C | CA447402927 | SLC26A2 | c.1911G>C (p.Val637=) c.372+3153G>C (n.372+3153G>C) | |
| 5 | g.149981504G= | CA1590738806 | SLC26A2 | c.1911G= (p.Val637=) c.372+3153G= (n.372+3153G=) | |
| 5 | g.149981504G>T | CA447402928 | SLC26A2 | c.1911G>T (p.Val637=) c.372+3153G>T (n.372+3153G>T) | gnomAD v4 |
| 5 | g.149981505C>A | CA361709342 | SLC26A2 | c.1912C>A (p.Gln638Lys) c.372+3154C>A (n.372+3154C>A) | |
| 5 | g.149981505C= | CA1590738807 | SLC26A2 | c.1912C= (p.Gln638=) c.372+3154C= (n.372+3154C=) | |
| 5 | g.149981505C>G | CA361709340 | SLC26A2 | c.1912C>G (p.Gln638Glu) c.372+3154C>G (n.372+3154C>G) | |
| 5 | g.149981505C>T | CA361709339 | SLC26A2 | c.1912C>T (p.Gln638Ter) c.372+3154C>T (n.372+3154C>T) | dbSNP |
| 5 | g.149981506A>C | CA361709344 | SLC26A2 | c.1913A>C (p.Gln638Pro) c.372+3155A>C (n.372+3155A>C) | |
| 5 | g.149981506A>G | CA361709346 | SLC26A2 | c.1913A>G (p.Gln638Arg) c.372+3155A>G (n.372+3155A>G) | |
| 5 | g.149981506A>T | CA361709348 | SLC26A2 | c.1913A>T (p.Gln638Leu) c.372+3155A>T (n.372+3155A>T) | |
| 5 | g.149981507A>C | CA361709350 | SLC26A2 | c.1914A>C (p.Gln638His) c.372+3156A>C (n.372+3156A>C) | |
| 5 | g.149981507A>G | CA447402930 | SLC26A2 | c.1914A>G (p.Gln638=) c.372+3156A>G (n.372+3156A>G) | gnomAD v4 |
| 5 | g.149981507A>T | CA361709352 | SLC26A2 | c.1914A>T (p.Gln638His) c.372+3156A>T (n.372+3156A>T) | |
| 5 | g.149981508C>A | CA361709354 | SLC26A2 | c.1915C>A (p.Leu639Ile) c.372+3157C>A (n.372+3157C>A) | gnomAD v4 |
| 5 | g.149981508C>G | CA361709356 | SLC26A2 | c.1915C>G (p.Leu639Val) c.372+3157C>G (n.372+3157C>G) | |
| 5 | g.149981508C>T | CA361709358 | SLC26A2 | c.1915C>T (p.Leu639Phe) c.372+3157C>T (n.372+3157C>T) | |
| 5 | g.149981509T>A | CA361709359 | SLC26A2 | c.1916T>A (p.Leu639His) c.372+3158T>A (n.372+3158T>A) | |
| 5 | g.149981509T>C | CA361709361 | SLC26A2 | c.1916T>C (p.Leu639Pro) c.372+3158T>C (n.372+3158T>C) | |
| 5 | g.149981509T>G | CA361709363 | SLC26A2 | c.1916T>G (p.Leu639Arg) c.372+3158T>G (n.372+3158T>G) | |
| 5 | g.149981510T>A | CA447402933 | SLC26A2 | c.1917T>A (p.Leu639=) c.372+3159T>A (n.372+3159T>A) | |
| 5 | g.149981510T>C | CA447402931 | SLC26A2 | c.1917T>C (p.Leu639=) c.372+3159T>C (n.372+3159T>C) | |
| 5 | g.149981510T>G | CA447402932 | SLC26A2 | c.1917T>G (p.Leu639=) c.372+3159T>G (n.372+3159T>G) | |
| 5 | g.149981511T>A | CA361709367 | SLC26A2 | c.1918T>A (p.Ser640Thr) c.372+3160T>A (n.372+3160T>A) | |
| 5 | g.149981511T>C | CA361709369 | SLC26A2 | c.1918T>C (p.Ser640Pro) c.372+3160T>C (n.372+3160T>C) | |
| 5 | g.149981511T>G | CA361709365 | SLC26A2 | c.1918T>G (p.Ser640Ala) c.372+3160T>G (n.372+3160T>G) | |
| 5 | g.149981512C>A | CA361709372 | SLC26A2 | c.1919C>A (p.Ser640Tyr) c.372+3161C>A (n.372+3161C>A) | |
| 5 | g.149981512C>G | CA361709374 | SLC26A2 | c.1919C>G (p.Ser640Cys) c.372+3161C>G (n.372+3161C>G) | |
| 5 | g.149981512C>T | CA361709376 | SLC26A2 | c.1919C>T (p.Ser640Phe) c.372+3161C>T (n.372+3161C>T) | COSMIC |
| 5 | g.149981513C>A | CA447402934 | SLC26A2 | c.1920C>A (p.Ser640=) c.372+3162C>A (n.372+3162C>A) | |
| 5 | g.149981513C>G | CA447402935 | SLC26A2 | c.1920C>G (p.Ser640=) c.372+3162C>G (n.372+3162C>G) | |
| 5 | g.149981513C>T | CA447402936 | SLC26A2 | c.1920C>T (p.Ser640=) c.372+3162C>T (n.372+3162C>T) | |
| 5 | g.149981514C>A | CA361709378 | SLC26A2 | c.1921C>A (p.His641Asn) c.372+3163C>A (n.372+3163C>A) | |
| 5 | g.149981514C>G | CA361709379 | SLC26A2 | c.1921C>G (p.His641Asp) c.372+3163C>G (n.372+3163C>G) | |
| 5 | g.149981514C>T | CA361709381 | SLC26A2 | c.1921C>T (p.His641Tyr) c.372+3163C>T (n.372+3163C>T) | gnomAD v4 |
| 5 | g.149981515A= | CA1590738808 | SLC26A2 | c.1922A= (p.His641=) c.372+3164A= (n.372+3164A=) | |
| 5 | g.149981515A>C | CA361709383 | SLC26A2 | c.1922A>C (p.His641Pro) c.372+3164A>C (n.372+3164A>C) | |
| 5 | g.149981515A>G | CA361709384 | SLC26A2 | c.1922A>G (p.His641Arg) c.372+3164A>G (n.372+3164A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981515A>T | CA361709385 | SLC26A2 | c.1922A>T (p.His641Leu) c.372+3164A>T (n.372+3164A>T) | |
| 5 | g.149981516T>A | CA361709387 | SLC26A2 | c.1923T>A (p.His641Gln) c.372+3165T>A (n.372+3165T>A) | |
| 5 | g.149981516T>C | CA447402937 | SLC26A2 | c.1923T>C (p.His641=) c.372+3165T>C (n.372+3165T>C) | |
| 5 | g.149981516T>G | CA361709388 | SLC26A2 | c.1923T>G (p.His641Gln) c.372+3165T>G (n.372+3165T>G) | |
| 5 | g.149981517G>A | CA361709392 | SLC26A2 | c.1924G>A (p.Asp642Asn) c.372+3166G>A (n.372+3166G>A) | |
| 5 | g.149981517G>C | CA361709394 | SLC26A2 | c.1924G>C (p.Asp642His) c.372+3166G>C (n.372+3166G>C) | |
| 5 | g.149981517G>T | CA361709390 | SLC26A2 | c.1924G>T (p.Asp642Tyr) c.372+3166G>T (n.372+3166G>T) | |
| 5 | g.149981518A>C | CA361709396 | SLC26A2 | c.1925A>C (p.Asp642Ala) c.372+3167A>C (n.372+3167A>C) | |
| 5 | g.149981518A>G | CA361709398 | SLC26A2 | c.1925A>G (p.Asp642Gly) c.372+3167A>G (n.372+3167A>G) | |
| 5 | g.149981518A>T | CA361709400 | SLC26A2 | c.1925A>T (p.Asp642Val) c.372+3167A>T (n.372+3167A>T) | gnomAD v4 |
| 5 | g.149981518_149981519del | CA913108432 | SLC26A2 | c.1925_1926del (p.Asp642AlafsTer10) c.372+3167_372+3168del (n.372+3167_372+3168del) | |
| 5 | g.149981518_149981519delinsAT | CA1590738809 | SLC26A2 | c.1925_1926delinsAT (p.Asp642=) c.372+3167_372+3168delinsAT (n.372+3167_372+3168delinsAT) | |
| 5 | g.149981519del | CA563955709 | SLC26A2 | c.1926del (p.Leu644TrpfsTer6) c.372+3168del (n.372+3168del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981519T>A | CA361709402 | SLC26A2 | c.1926T>A (p.Asp642Glu) c.372+3168T>A (n.372+3168T>A) | dbSNP |
| 5 | g.149981519T>C | CA447402938 | SLC26A2 | c.1926T>C (p.Asp642=) c.372+3168T>C (n.372+3168T>C) | |
| 5 | g.149981519T>G | CA361709404 | SLC26A2 | c.1926T>G (p.Asp642Glu) c.372+3168T>G (n.372+3168T>G) | |
| 5 | g.149981520C>A | CA361709410 | SLC26A2 | c.1927C>A (p.Pro643Thr) c.372+3169C>A (n.372+3169C>A) | |
| 5 | g.149981520C= | CA1590738810 | SLC26A2 | c.1927C= (p.Pro643=) c.372+3169C= (n.372+3169C=) | |
| 5 | g.149981520C>G | CA361709407 | SLC26A2 | c.1927C>G (p.Pro643Ala) c.372+3169C>G (n.372+3169C>G) | |
| 5 | g.149981520C>T | CA129084726 | SLC26A2 | c.1927C>T (p.Pro643Ser) c.372+3169C>T (n.372+3169C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981521C>A | CA361709412 | SLC26A2 | c.1928C>A (p.Pro643His) c.372+3170C>A (n.372+3170C>A) | |
| 5 | g.149981521C>G | CA361709414 | SLC26A2 | c.1928C>G (p.Pro643Arg) c.372+3170C>G (n.372+3170C>G) | gnomAD v4 |
| 5 | g.149981521C>T | CA361709416 | SLC26A2 | c.1928C>T (p.Pro643Leu) c.372+3170C>T (n.372+3170C>T) | |
| 5 | g.149981522C>A | CA447402939 | SLC26A2 | c.1929C>A (p.Pro643=) c.372+3171C>A (n.372+3171C>A) | |
| 5 | g.149981522C>G | CA447402940 | SLC26A2 | c.1929C>G (p.Pro643=) c.372+3171C>G (n.372+3171C>G) | |
| 5 | g.149981522C>T | CA447402941 | SLC26A2 | c.1929C>T (p.Pro643=) c.372+3171C>T (n.372+3171C>T) | |
| 5 | g.149981523T>A | CA361709417 | SLC26A2 | c.1930T>A (p.Leu644Met) c.372+3172T>A (n.372+3172T>A) | |
| 5 | g.149981523T>C | CA447402942 | SLC26A2 | c.1930T>C (p.Leu644=) c.372+3172T>C (n.372+3172T>C) | |
| 5 | g.149981523T>G | CA361709419 | SLC26A2 | c.1930T>G (p.Leu644Val) c.372+3172T>G (n.372+3172T>G) | |
| 5 | g.149981524T>A | CA361709424 | SLC26A2 | c.1931T>A (p.Leu644Ter) c.372+3173T>A (n.372+3173T>A) | |
| 5 | g.149981524T>C | CA361709422 | SLC26A2 | c.1931T>C (p.Leu644Ser) c.372+3173T>C (n.372+3173T>C) | |
| 5 | g.149981524T>G | CA361709420 | SLC26A2 | c.1931T>G (p.Leu644Trp) c.372+3173T>G (n.372+3173T>G) | |
| 5 | g.149981525G>A | CA447402943 | SLC26A2 | c.1932G>A (p.Leu644=) c.372+3174G>A (n.372+3174G>A) | dbSNP |
| 5 | g.149981525G>C | CA361709426 | SLC26A2 | c.1932G>C (p.Leu644Phe) c.372+3174G>C (n.372+3174G>C) | |
| 5 | g.149981525G>T | CA361709428 | SLC26A2 | c.1932G>T (p.Leu644Phe) c.372+3174G>T (n.372+3174G>T) | |
| 5 | g.149981526G>A | CA361709430 | SLC26A2 | c.1933G>A (p.Glu645Lys) c.372+3175G>A (n.372+3175G>A) | |
| 5 | g.149981526G>C | CA361709432 | SLC26A2 | c.1933G>C (p.Glu645Gln) c.372+3175G>C (n.372+3175G>C) | |
| 5 | g.149981526G>T | CA361709434 | SLC26A2 | c.1933G>T (p.Glu645Ter) c.372+3175G>T (n.372+3175G>T) | gnomAD v4 |
| 5 | g.149981527A>C | CA361709436 | SLC26A2 | c.1934A>C (p.Glu645Ala) c.372+3176A>C (n.372+3176A>C) | |
| 5 | g.149981527A>G | CA361709438 | SLC26A2 | c.1934A>G (p.Glu645Gly) c.372+3176A>G (n.372+3176A>G) | |
| 5 | g.149981527A>T | CA361709440 | SLC26A2 | c.1934A>T (p.Glu645Val) c.372+3176A>T (n.372+3176A>T) | |
| 5 | g.149981528G>A | CA447402944 | SLC26A2 | c.1935G>A (p.Glu645=) c.372+3177G>A (n.372+3177G>A) | |
| 5 | g.149981528G>C | CA361709442 | SLC26A2 | c.1935G>C (p.Glu645Asp) c.372+3177G>C (n.372+3177G>C) | gnomAD v4 |
| 5 | g.149981528G>T | CA361709444 | SLC26A2 | c.1935G>T (p.Glu645Asp) c.372+3177G>T (n.372+3177G>T) | |
| 5 | g.149981529C>A | CA361709446 | SLC26A2 | c.1936C>A (p.Leu646Met) c.372+3178C>A (n.372+3178C>A) | |
| 5 | g.149981529C>G | CA361709448 | SLC26A2 | c.1936C>G (p.Leu646Val) c.372+3178C>G (n.372+3178C>G) | |
| 5 | g.149981529C>T | CA447402945 | SLC26A2 | c.1936C>T (p.Leu646=) c.372+3178C>T (n.372+3178C>T) | ClinVar |
| 5 | g.149981530T>A | CA361709454 | SLC26A2 | c.1937T>A (p.Leu646Gln) c.372+3179T>A (n.372+3179T>A) | |
| 5 | g.149981530T>C | CA361709452 | SLC26A2 | c.1937T>C (p.Leu646Pro) c.372+3179T>C (n.372+3179T>C) | |
| 5 | g.149981530T>G | CA361709450 | SLC26A2 | c.1937T>G (p.Leu646Arg) c.372+3179T>G (n.372+3179T>G) | |
| 5 | g.149981531G>A | CA3505516 | SLC26A2 | c.1938G>A (p.Leu646=) c.372+3180G>A (n.372+3180G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981531G>C | CA447402947 | SLC26A2 | c.1938G>C (p.Leu646=) c.372+3180G>C (n.372+3180G>C) | |
| 5 | g.149981531G= | CA1590738811 | SLC26A2 | c.1938G= (p.Leu646=) c.372+3180G= (n.372+3180G=) | |
| 5 | g.149981531G>T | CA447402946 | SLC26A2 | c.1938G>T (p.Leu646=) c.372+3180G>T (n.372+3180G>T) | |
| 5 | g.149981532C>A | CA361709458 | SLC26A2 | c.1939C>A (p.His647Asn) c.372+3181C>A (n.372+3181C>A) | |
| 5 | g.149981532C= | CA1590738812 | SLC26A2 | c.1939C= (p.His647=) c.372+3181C= (n.372+3181C=) | |
| 5 | g.149981532C>G | CA361709459 | SLC26A2 | c.1939C>G (p.His647Asp) c.372+3181C>G (n.372+3181C>G) | |
| 5 | g.149981532C>T | CA361709462 | SLC26A2 | c.1939C>T (p.His647Tyr) c.372+3181C>T (n.372+3181C>T) | ClinVar dbSNP |
| 5 | g.149981533A>C | CA361709464 | SLC26A2 | c.1940A>C (p.His647Pro) c.372+3182A>C (n.372+3182A>C) | |
| 5 | g.149981533A>G | CA361709466 | SLC26A2 | c.1940A>G (p.His647Arg) c.372+3182A>G (n.372+3182A>G) | |
| 5 | g.149981533A>T | CA361709468 | SLC26A2 | c.1940A>T (p.His647Leu) c.372+3182A>T (n.372+3182A>T) | gnomAD v4 |
| 5 | g.149981534T>A | CA361709470 | SLC26A2 | c.1941T>A (p.His647Gln) c.372+3183T>A (n.372+3183T>A) | |
| 5 | g.149981534T>C | CA447402948 | SLC26A2 | c.1941T>C (p.His647=) c.372+3183T>C (n.372+3183T>C) | dbSNP |
| 5 | g.149981534T>G | CA361709471 | SLC26A2 | c.1941T>G (p.His647Gln) c.372+3183T>G (n.372+3183T>G) | |
| 5 | g.149981534T= | CA1590738813 | SLC26A2 | c.1941T= (p.His647=) c.372+3183T= (n.372+3183T=) | |
| 5 | g.149981535A= | CA1590738814 | SLC26A2 | c.1942A= (p.Thr648=) c.372+3184A= (n.372+3184A=) | |
| 5 | g.149981535A>C | CA361709475 | SLC26A2 | c.1942A>C (p.Thr648Pro) c.372+3184A>C (n.372+3184A>C) | |
| 5 | g.149981535A>G | CA361709476 | SLC26A2 | c.1942A>G (p.Thr648Ala) c.372+3184A>G (n.372+3184A>G) | |
| 5 | g.149981535A>T | CA361709477 | SLC26A2 | c.1942A>T (p.Thr648Ser) c.372+3184A>T (n.372+3184A>T) | dbSNP |
| 5 | g.149981536C>A | CA361709479 | SLC26A2 | c.1943C>A (p.Thr648Asn) c.372+3185C>A (n.372+3185C>A) | |
| 5 | g.149981536C= | CA1590738815 | SLC26A2 | c.1943C= (p.Thr648=) c.372+3185C= (n.372+3185C=) | |
| 5 | g.149981536C>G | CA361709480 | SLC26A2 | c.1943C>G (p.Thr648Ser) c.372+3185C>G (n.372+3185C>G) | |
| 5 | g.149981536C>T | CA361709478 | SLC26A2 | c.1943C>T (p.Thr648Ile) c.372+3185C>T (n.372+3185C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981537T>A | CA447402949 | SLC26A2 | c.1944T>A (p.Thr648=) c.372+3186T>A (n.372+3186T>A) | |
| 5 | g.149981537T>C | CA3505517 | SLC26A2 | c.1944T>C (p.Thr648=) c.372+3186T>C (n.372+3186T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981537T>G | CA447402950 | SLC26A2 | c.1944T>G (p.Thr648=) c.372+3186T>G (n.372+3186T>G) | COSMIC |
| 5 | g.149981537T= | CA1590738816 | SLC26A2 | c.1944T= (p.Thr648=) c.372+3186T= (n.372+3186T=) | |
| 5 | g.149981539_149981540del | CA2675943657 | SLC26A2 | c.1946_1947del (p.Ile649SerfsTer3) c.372+3188_372+3189del (n.372+3188_372+3189del) | gnomAD v4 |
| 5 | g.149981538A= | CA1590738817 | SLC26A2 | c.1945A= (p.Ile649=) c.372+3187A= (n.372+3187A=) | |
| 5 | g.149981538A>C | CA361709481 | SLC26A2 | c.1945A>C (p.Ile649Leu) c.372+3187A>C (n.372+3187A>C) | |
| 5 | g.149981538A>G | CA3505518 | SLC26A2 | c.1945A>G (p.Ile649Val) c.372+3187A>G (n.372+3187A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981538A>T | CA361709482 | SLC26A2 | c.1945A>T (p.Ile649Leu) c.372+3187A>T (n.372+3187A>T) | |
| 5 | g.149981539T>A | CA361709483 | SLC26A2 | c.1946T>A (p.Ile649Lys) c.372+3188T>A (n.372+3188T>A) | |
| 5 | g.149981539T>C | CA361709484 | SLC26A2 | c.1946T>C (p.Ile649Thr) c.372+3188T>C (n.372+3188T>C) | gnomAD v4 |
| 5 | g.149981539T>G | CA361709485 | SLC26A2 | c.1946T>G (p.Ile649Arg) c.372+3188T>G (n.372+3188T>G) | |
| 5 | g.149981540A= | CA1590738818 | SLC26A2 | c.1947A= (p.Ile649=) c.372+3189A= (n.372+3189A=) | |
| 5 | g.149981540A>C | CA447402951 | SLC26A2 | c.1947A>C (p.Ile649=) c.372+3189A>C (n.372+3189A>C) | ClinVar gnomAD v4 |
| 5 | g.149981540A>G | CA3505519 | SLC26A2 | c.1947A>G (p.Ile649Met) c.372+3189A>G (n.372+3189A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981540A>T | CA447402952 | SLC26A2 | c.1947A>T (p.Ile649=) c.372+3189A>T (n.372+3189A>T) | |
| 5 | g.149981541G>A | CA361709486 | SLC26A2 | c.1948G>A (p.Val650Met) c.372+3190G>A (n.372+3190G>A) | |
| 5 | g.149981541G>C | CA361709487 | SLC26A2 | c.1948G>C (p.Val650Leu) c.372+3190G>C (n.372+3190G>C) | |
| 5 | g.149981541G>T | CA361709488 | SLC26A2 | c.1948G>T (p.Val650Leu) c.372+3190G>T (n.372+3190G>T) | |
| 5 | g.149981542T>A | CA361709489 | SLC26A2 | c.1949T>A (p.Val650Glu) c.372+3191T>A (n.372+3191T>A) | |
| 5 | g.149981542T>C | CA361709490 | SLC26A2 | c.1949T>C (p.Val650Ala) c.372+3191T>C (n.372+3191T>C) | |
| 5 | g.149981542T>G | CA361709491 | SLC26A2 | c.1949T>G (p.Val650Gly) c.372+3191T>G (n.372+3191T>G) | |
| 5 | g.149981542_149981543delinsTG | CA1590738819 | SLC26A2 | c.1949_1950delinsTG (p.Val650=) c.372+3191_372+3192delinsTG (n.372+3191_372+3192delinsTG) | |
| 5 | g.149981543del | CA3505520 | SLC26A2 | c.1950del (p.Ile651LeufsTer9) c.372+3192del (n.372+3192del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981543G>A | CA447402953 | SLC26A2 | c.1950G>A (p.Val650=) c.372+3192G>A (n.372+3192G>A) | ClinVar gnomAD v4 |
| 5 | g.149981543G>C | CA447402954 | SLC26A2 | c.1950G>C (p.Val650=) c.372+3192G>C (n.372+3192G>C) | |
| 5 | g.149981543G>T | CA447402955 | SLC26A2 | c.1950G>T (p.Val650=) c.372+3192G>T (n.372+3192G>T) | gnomAD v4 |
| 5 | g.149981544A>C | CA361709492 | SLC26A2 | c.1951A>C (p.Ile651Leu) c.372+3193A>C (n.372+3193A>C) | |
| 5 | g.149981544A>G | CA361709493 | SLC26A2 | c.1951A>G (p.Ile651Val) c.372+3193A>G (n.372+3193A>G) | |
| 5 | g.149981544A>T | CA361709494 | SLC26A2 | c.1951A>T (p.Ile651Phe) c.372+3193A>T (n.372+3193A>T) | |
| 5 | g.149981545T>A | CA361709495 | SLC26A2 | c.1952T>A (p.Ile651Asn) c.372+3194T>A (n.372+3194T>A) | |
| 5 | g.149981545T>C | CA3505521 | SLC26A2 | c.1952T>C (p.Ile651Thr) c.372+3194T>C (n.372+3194T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981545T>G | CA361709496 | SLC26A2 | c.1952T>G (p.Ile651Ser) c.372+3194T>G (n.372+3194T>G) | |
| 5 | g.149981545T= | CA1590738820 | SLC26A2 | c.1952T= (p.Ile651=) c.372+3194T= (n.372+3194T=) | |
| 5 | g.149981545_149981549delinsTTGAC | CA1590738821 | SLC26A2 | c.1952_1956delinsTTGAC (p.Ile651=) c.372+3194_372+3198delinsTTGAC (n.372+3194_372+3198delinsTTGAC) | |
| 5 | g.149981546T>A | CA447402956 | SLC26A2 | c.1953T>A (p.Ile651=) c.372+3195T>A (n.372+3195T>A) | |
| 5 | g.149981546T>C | CA447402957 | SLC26A2 | c.1953T>C (p.Ile651=) c.372+3195T>C (n.372+3195T>C) | |
| 5 | g.149981546T>G | CA361709497 | SLC26A2 | c.1953T>G (p.Ile651Met) c.372+3195T>G (n.372+3195T>G) | |
| 5 | g.149981548_149981551del | CA16041000 | SLC26A2 | c.1955_1958del (p.Asp652AlafsTer7) c.372+3197_372+3200del (n.372+3197_372+3200del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981547G>A | CA361709498 | SLC26A2 | c.1954G>A (p.Asp652Asn) c.372+3196G>A (n.372+3196G>A) | dbSNP |
| 5 | g.149981547G>C | CA361709499 | SLC26A2 | c.1954G>C (p.Asp652His) c.372+3196G>C (n.372+3196G>C) | |
| 5 | g.149981547G= | CA1590738822 | SLC26A2 | c.1954G= (p.Asp652=) c.372+3196G= (n.372+3196G=) | |
| 5 | g.149981547G>T | CA361709500 | SLC26A2 | c.1954G>T (p.Asp652Tyr) c.372+3196G>T (n.372+3196G>T) | |
| 5 | g.149981548A= | CA1590738823 | SLC26A2 | c.1955A= (p.Asp652=) c.372+3197A= (n.372+3197A=) | |
| 5 | g.149981548A>C | CA361709501 | SLC26A2 | c.1955A>C (p.Asp652Ala) c.372+3197A>C (n.372+3197A>C) | |
| 5 | g.149981548A>G | CA361709502 | SLC26A2 | c.1955A>G (p.Asp652Gly) c.372+3197A>G (n.372+3197A>G) | dbSNP |
| 5 | g.149981548A>T | CA361709503 | SLC26A2 | c.1955A>T (p.Asp652Val) c.372+3197A>T (n.372+3197A>T) | |
| 5 | g.149981548dup | CA913108433 | SLC26A2 | c.1955dup (p.Asp652GlufsTer24) c.372+3197dup (n.372+3197dup) | |
| 5 | g.149981549C>A | CA361709505 | SLC26A2 | c.1956C>A (p.Asp652Glu) c.372+3198C>A (n.372+3198C>A) | |
| 5 | g.149981549C>G | CA361709504 | SLC26A2 | c.1956C>G (p.Asp652Glu) c.372+3198C>G (n.372+3198C>G) | |
| 5 | g.149981549C>T | CA447402958 | SLC26A2 | c.1956C>T (p.Asp652=) c.372+3198C>T (n.372+3198C>T) | |
| 5 | g.149981549_149981550dup | CA658823316 | SLC26A2 | c.1956_1957dup (p.Cys653SerfsTer8) c.372+3198_372+3199dup (n.372+3198_372+3199dup) | ClinVar dbSNP |
| 5 | g.149981550T>A | CA252996 | SLC26A2 | c.1957T>A (p.Cys653Ser) c.372+3199T>A (n.372+3199T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981550T>C | CA361709506 | SLC26A2 | c.1957T>C (p.Cys653Arg) c.372+3199T>C (n.372+3199T>C) | gnomAD v4 |
| 5 | g.149981550T>G | CA361709507 | SLC26A2 | c.1957T>G (p.Cys653Gly) c.372+3199T>G (n.372+3199T>G) | ClinVar gnomAD v4 |
| 5 | g.149981550T= | CA1590738824 | SLC26A2 | c.1957T= (p.Cys653=) c.372+3199T= (n.372+3199T=) | |
| 5 | g.149981551G>A | CA361709508 | SLC26A2 | c.1958G>A (p.Cys653Tyr) c.372+3200G>A (n.372+3200G>A) | ClinVar dbSNP |
| 5 | g.149981551G>C | CA361709509 | SLC26A2 | c.1958G>C (p.Cys653Ser) c.372+3200G>C (n.372+3200G>C) | |
| 5 | g.149981551G= | CA1590738825 | SLC26A2 | c.1958G= (p.Cys653=) c.372+3200G= (n.372+3200G=) | |
| 5 | g.149981551G>T | CA361709510 | SLC26A2 | c.1958G>T (p.Cys653Phe) c.372+3200G>T (n.372+3200G>T) | gnomAD v4 |
| 5 | g.149981552C>A | CA361709512 | SLC26A2 | c.1959C>A (p.Cys653Ter) c.372+3201C>A (n.372+3201C>A) | |
| 5 | g.149981552C= | CA1590738826 | SLC26A2 | c.1959C= (p.Cys653=) c.372+3201C= (n.372+3201C=) | |
| 5 | g.149981552C>G | CA361709511 | SLC26A2 | c.1959C>G (p.Cys653Trp) c.372+3201C>G (n.372+3201C>G) | |
| 5 | g.149981552C>T | CA447402959 | SLC26A2 | c.1959C>T (p.Cys653=) c.372+3201C>T (n.372+3201C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981553A= | CA1590738827 | SLC26A2 | c.1960A= (p.Ser654=) c.372+3202A= (n.372+3202A=) | |
| 5 | g.149981553A>C | CA361709513 | SLC26A2 | c.1960A>C (p.Ser654Arg) c.372+3202A>C (n.372+3202A>C) | |
| 5 | g.149981553A>G | CA361709514 | SLC26A2 | c.1960A>G (p.Ser654Gly) c.372+3202A>G (n.372+3202A>G) | dbSNP |
| 5 | g.149981553A>T | CA361709515 | SLC26A2 | c.1960A>T (p.Ser654Cys) c.372+3202A>T (n.372+3202A>T) | |
| 5 | g.149981554G>A | CA361709516 | SLC26A2 | c.1961G>A (p.Ser654Asn) c.372+3203G>A (n.372+3203G>A) | |
| 5 | g.149981554G>C | CA361709517 | SLC26A2 | c.1961G>C (p.Ser654Thr) c.372+3203G>C (n.372+3203G>C) | |
| 5 | g.149981554G>T | CA361709518 | SLC26A2 | c.1961G>T (p.Ser654Ile) c.372+3203G>T (n.372+3203G>T) | |
| 5 | g.149981555T>A | CA361709520 | SLC26A2 | c.1962T>A (p.Ser654Arg) c.372+3204T>A (n.372+3204T>A) | |
| 5 | g.149981555T>C | CA3505522 | SLC26A2 | c.1962T>C (p.Ser654=) c.372+3204T>C (n.372+3204T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981555T>G | CA361709519 | SLC26A2 | c.1962T>G (p.Ser654Arg) c.372+3204T>G (n.372+3204T>G) | |
| 5 | g.149981555T= | CA1590738828 | SLC26A2 | c.1962T= (p.Ser654=) c.372+3204T= (n.372+3204T=) | |
| 5 | g.149981556G>A | CA361709521 | SLC26A2 | c.1963G>A (p.Ala655Thr) c.372+3205G>A (n.372+3205G>A) | gnomAD v4 |
| 5 | g.149981556G>C | CA361709522 | SLC26A2 | c.1963G>C (p.Ala655Pro) c.372+3205G>C (n.372+3205G>C) | |
| 5 | g.149981556G>T | CA361709523 | SLC26A2 | c.1963G>T (p.Ala655Ser) c.372+3205G>T (n.372+3205G>T) |