UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107674954G>A | CA368830949 | SLC26A4 | c.610G>A (p.Gly204Ser) | dbSNP gnomAD v4 |
| 7 | g.107674954G>C | CA368830952 | SLC26A4 | c.610G>C (p.Gly204Arg) | |
| 7 | g.107674954G= | CA1732746887 | SLC26A4 | c.610G= (p.Gly204=) | |
| 7 | g.107674954G>T | CA368830951 | SLC26A4 | c.610G>T (p.Gly204Cys) | |
| 7 | g.107674955G>A | CA368830956 | SLC26A4 | c.611G>A (p.Gly204Asp) | |
| 7 | g.107674955G>C | CA368830960 | SLC26A4 | c.611G>C (p.Gly204Ala) | |
| 7 | g.107674955G>T | CA368830957 | SLC26A4 | c.611G>T (p.Gly204Val) | |
| 7 | g.107674956T>A | CA457082386 | SLC26A4 | c.612T>A (p.Gly204=) | |
| 7 | g.107674956T>C | CA457082387 | SLC26A4 | c.612T>C (p.Gly204=) | |
| 7 | g.107674956T>G | CA457082388 | SLC26A4 | c.612T>G (p.Gly204=) | |
| 7 | g.107674957G>A | CA368830967 | SLC26A4 | c.613G>A (p.Gly205Ser) | |
| 7 | g.107674957G>C | CA368830969 | SLC26A4 | c.613G>C (p.Gly205Arg) | |
| 7 | g.107674957G>T | CA368830970 | SLC26A4 | c.613G>T (p.Gly205Cys) | |
| 7 | g.107674958G>A | CA368830977 | SLC26A4 | c.614G>A (p.Gly205Asp) | COSMIC |
| 7 | g.107674958G>C | CA368830978 | SLC26A4 | c.614G>C (p.Gly205Ala) | |
| 7 | g.107674958G>T | CA368830982 | SLC26A4 | c.614G>T (p.Gly205Val) | ClinVar dbSNP |
| 7 | g.107674959C>A | CA457082389 | SLC26A4 | c.615C>A (p.Gly205=) | |
| 7 | g.107674959C>G | CA457082390 | SLC26A4 | c.615C>G (p.Gly205=) | |
| 7 | g.107674959C>T | CA457082391 | SLC26A4 | c.615C>T (p.Gly205=) | |
| 7 | g.107674960T>A | CA368830986 | SLC26A4 | c.616T>A (p.Leu206Met) | dbSNP |
| 7 | g.107674960T>C | CA457082392 | SLC26A4 | c.616T>C (p.Leu206=) | |
| 7 | g.107674960T>G | CA368830988 | SLC26A4 | c.616T>G (p.Leu206Val) | |
| 7 | g.107674960T= | CA1732746889 | SLC26A4 | c.616T= (p.Leu206=) | |
| 7 | g.107674961T>A | CA368830994 | SLC26A4 | c.617T>A (p.Leu206Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674961T>C | CA368830997 | SLC26A4 | c.617T>C (p.Leu206Ser) | |
| 7 | g.107674961T>G | CA368831003 | SLC26A4 | c.617T>G (p.Leu206Trp) | |
| 7 | g.107674962G>A | CA457082395 | SLC26A4 | c.618G>A (p.Leu206=) | ClinVar gnomAD v4 |
| 7 | g.107674962G>C | CA368831009 | SLC26A4 | c.618G>C (p.Leu206Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674962G= | CA1732746891 | SLC26A4 | c.618G= (p.Leu206=) | |
| 7 | g.107674962G>T | CA368831005 | SLC26A4 | c.618G>T (p.Leu206Phe) | |
| 7 | g.107674963C>A | CA368831013 | SLC26A4 | c.619C>A (p.Gln207Lys) | |
| 7 | g.107674963C= | CA1732746894 | SLC26A4 | c.619C= (p.Gln207=) | |
| 7 | g.107674963C>G | CA368831026 | SLC26A4 | c.619C>G (p.Gln207Glu) | dbSNP |
| 7 | g.107674963C>T | CA16041104 | SLC26A4 | c.619C>T (p.Gln207Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674964A= | CA1732746905 | SLC26A4 | c.620A= (p.Gln207=) | |
| 7 | g.107674964A>C | CA368831049 | SLC26A4 | c.620A>C (p.Gln207Pro) | dbSNP |
| 7 | g.107674964A>G | CA368831052 | SLC26A4 | c.620A>G (p.Gln207Arg) | |
| 7 | g.107674964A>T | CA368831054 | SLC26A4 | c.620A>T (p.Gln207Leu) | |
| 7 | g.107674965del | CA2684462742 | SLC26A4 | c.621del (p.Ile208LeufsTer4) | gnomAD v4 |
| 7 | g.107674965G>A | CA457082397 | SLC26A4 | c.621G>A (p.Gln207=) | |
| 7 | g.107674965G>C | CA368831057 | SLC26A4 | c.621G>C (p.Gln207His) | gnomAD v4 COSMIC |
| 7 | g.107674965G= | CA1732746908 | SLC26A4 | c.621G= (p.Gln207=) | |
| 7 | g.107674965G>T | CA368831060 | SLC26A4 | c.621G>T (p.Gln207His) | dbSNP gnomAD v2 |
| 7 | g.107674966A>C | CA368831061 | SLC26A4 | c.622A>C (p.Ile208Leu) | |
| 7 | g.107674966A>G | CA368831063 | SLC26A4 | c.622A>G (p.Ile208Val) | |
| 7 | g.107674966A>T | CA368831064 | SLC26A4 | c.622A>T (p.Ile208Phe) | |
| 7 | g.107674967T>A | CA368831069 | SLC26A4 | c.623T>A (p.Ile208Asn) | |
| 7 | g.107674967T>C | CA368831087 | SLC26A4 | c.623T>C (p.Ile208Thr) | gnomAD v4 |
| 7 | g.107674967T>G | CA368831067 | SLC26A4 | c.623T>G (p.Ile208Ser) | |
| 7 | g.107674968T>A | CA457082401 | SLC26A4 | c.624T>A (p.Ile208=) | |
| 7 | g.107674968T>C | CA457082402 | SLC26A4 | c.624T>C (p.Ile208=) | gnomAD v4 |
| 7 | g.107674968T>G | CA368831093 | SLC26A4 | c.624T>G (p.Ile208Met) | |
| 7 | g.107674968_107674976delinsACTTGGC | CA2573141442 | SLC26A4 | c.624_632delinsACTTGGC (p.Gly209LeufsTer?) | ClinVar dbSNP |
| 7 | g.107674969G>A | CA368831110 | SLC26A4 | c.625G>A (p.Gly209Arg) | |
| 7 | g.107674969G>C | CA368831116 | SLC26A4 | c.625G>C (p.Gly209Arg) | |
| 7 | g.107674969G>T | CA368831120 | SLC26A4 | c.625G>T (p.Gly209Ter) | |
| 7 | g.107674970G>A | CA368831124 | SLC26A4 | c.626G>A (p.Gly209Glu) | ClinVar gnomAD v4 COSMIC |
| 7 | g.107674970G>C | CA368831126 | SLC26A4 | c.626G>C (p.Gly209Ala) | gnomAD v4 |
| 7 | g.107674970G= | CA1732746914 | SLC26A4 | c.626G= (p.Gly209=) | |
| 7 | g.107674970G>T | CA253304 | SLC26A4 | c.626G>T (p.Gly209Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674971A= | CA1732746917 | SLC26A4 | c.627A= (p.Gly209=) | |
| 7 | g.107674971A>C | CA457082403 | SLC26A4 | c.627A>C (p.Gly209=) | |
| 7 | g.107674971A>G | CA4432535 | SLC26A4 | c.627A>G (p.Gly209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674971A>T | CA457082404 | SLC26A4 | c.627A>T (p.Gly209=) | |
| 7 | g.107674972T>A | CA368831135 | SLC26A4 | c.628T>A (p.Phe210Ile) | |
| 7 | g.107674972T>C | CA368831138 | SLC26A4 | c.628T>C (p.Phe210Leu) | |
| 7 | g.107674972T>G | CA368831141 | SLC26A4 | c.628T>G (p.Phe210Val) | |
| 7 | g.107674973T>A | CA368831144 | SLC26A4 | c.629T>A (p.Phe210Tyr) | |
| 7 | g.107674973T>C | CA368831146 | SLC26A4 | c.629T>C (p.Phe210Ser) | |
| 7 | g.107674973T>G | CA368831147 | SLC26A4 | c.629T>G (p.Phe210Cys) | |
| 7 | g.107674974C>A | CA368831154 | SLC26A4 | c.630C>A (p.Phe210Leu) | |
| 7 | g.107674974C>G | CA368831156 | SLC26A4 | c.630C>G (p.Phe210Leu) | |
| 7 | g.107674974C>T | CA457082408 | SLC26A4 | c.630C>T (p.Phe210=) | |
| 7 | g.107674975A>C | CA368831163 | SLC26A4 | c.631A>C (p.Ile211Leu) | |
| 7 | g.107674975A>G | CA368831165 | SLC26A4 | c.631A>G (p.Ile211Val) | |
| 7 | g.107674975A>T | CA368831166 | SLC26A4 | c.631A>T (p.Ile211Leu) | |
| 7 | g.107674976T>A | CA368831167 | SLC26A4 | c.632T>A (p.Ile211Lys) | |
| 7 | g.107674976T>C | CA4432536 | SLC26A4 | c.632T>C (p.Ile211Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107674976T>G | CA368831169 | SLC26A4 | c.632T>G (p.Ile211Arg) | |
| 7 | g.107674976T= | CA1732746922 | SLC26A4 | c.632T= (p.Ile211=) | |
| 7 | g.107674977A>C | CA457082413 | SLC26A4 | c.633A>C (p.Ile211=) | |
| 7 | g.107674977A>G | CA368831171 | SLC26A4 | c.633A>G (p.Ile211Met) | ClinVar gnomAD v4 COSMIC |
| 7 | g.107674977A>T | CA457082414 | SLC26A4 | c.633A>T (p.Ile211=) | ClinVar |
| 7 | g.107674978G>A | CA368831178 | SLC26A4 | c.634G>A (p.Val212Met) | dbSNP |
| 7 | g.107674978G>C | CA368831181 | SLC26A4 | c.634G>C (p.Val212Leu) | COSMIC |
| 7 | g.107674978G= | CA1732746927 | SLC26A4 | c.634G= (p.Val212=) | |
| 7 | g.107674978G>T | CA368831184 | SLC26A4 | c.634G>T (p.Val212Leu) | COSMIC |
| 7 | g.107674979T>A | CA4432537 | SLC26A4 | c.635T>A (p.Val212Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674979T>C | CA368831187 | SLC26A4 | c.635T>C (p.Val212Ala) | |
| 7 | g.107674979T>G | CA368831190 | SLC26A4 | c.635T>G (p.Val212Gly) | |
| 7 | g.107674979T= | CA1732746930 | SLC26A4 | c.635T= (p.Val212=) | |
| 7 | g.107674980G>A | CA457082420 | SLC26A4 | c.636G>A (p.Val212=) | dbSNP COSMIC |
| 7 | g.107674980G>C | CA457082423 | SLC26A4 | c.636G>C (p.Val212=) | gnomAD v4 |
| 7 | g.107674980G= | CA1732746933 | SLC26A4 | c.636G= (p.Val212=) | |
| 7 | g.107674980G>T | CA457082422 | SLC26A4 | c.636G>T (p.Val212=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674981A= | CA1732746935 | SLC26A4 | c.637A= (p.Arg213=) | |
| 7 | g.107674981A>C | CA457082424 | SLC26A4 | c.637A>C (p.Arg213=) | |
| 7 | g.107674981A>G | CA368831192 | SLC26A4 | c.637A>G (p.Arg213Gly) | |
| 7 | g.107674981A>T | CA368831194 | SLC26A4 | c.637A>T (p.Arg213Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674982G>A | CA368831196 | SLC26A4 | c.638G>A (p.Arg213Lys) | |
| 7 | g.107674982G>C | CA368831201 | SLC26A4 | c.638G>C (p.Arg213Thr) | |
| 7 | g.107674982G>T | CA368831199 | SLC26A4 | c.638G>T (p.Arg213Met) | |
| 7 | g.107674983G>A | CA457082427 | SLC26A4 | c.639G>A (p.Arg213=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674983G>C | CA368831203 | SLC26A4 | c.639G>C (p.Arg213Ser) | |
| 7 | g.107674983G>T | CA368831207 | SLC26A4 | c.639G>T (p.Arg213Ser) | |
| 7 | g.107674984T>A | CA368831209 | SLC26A4 | c.640T>A (p.Tyr214Asn) | |
| 7 | g.107674984T>C | CA368831219 | SLC26A4 | c.640T>C (p.Tyr214His) | |
| 7 | g.107674984T>G | CA368831212 | SLC26A4 | c.640T>G (p.Tyr214Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674984T= | CA1732746938 | SLC26A4 | c.640T= (p.Tyr214=) | |
| 7 | g.107674985A= | CA1732746941 | SLC26A4 | c.641A= (p.Tyr214=) | |
| 7 | g.107674985A>C | CA368831223 | SLC26A4 | c.641A>C (p.Tyr214Ser) | |
| 7 | g.107674985A>G | CA368831225 | SLC26A4 | c.641A>G (p.Tyr214Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107674985A>T | CA4432538 | SLC26A4 | c.641A>T (p.Tyr214Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107674986del | CA2580076135 | SLC26A4 | c.642del (p.Leu215TrpfsTer22) | ClinVar gnomAD v4 |
| 7 | g.107674986C>A | CA368831233 | SLC26A4 | c.642C>A (p.Tyr214Ter) | |
| 7 | g.107674986C= | CA1732746948 | SLC26A4 | c.642C= (p.Tyr214=) | |
| 7 | g.107674986C>G | CA368831235 | SLC26A4 | c.642C>G (p.Tyr214Ter) | |
| 7 | g.107674986C>T | CA4432539 | SLC26A4 | c.642C>T (p.Tyr214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107674987T>A | CA368831239 | SLC26A4 | c.643T>A (p.Leu215Met) | |
| 7 | g.107674987T>C | CA457082429 | SLC26A4 | c.643T>C (p.Leu215=) | |
| 7 | g.107674987T>G | CA368831241 | SLC26A4 | c.643T>G (p.Leu215Val) | |
| 7 | g.107674988T>A | CA368831244 | SLC26A4 | c.644T>A (p.Leu215Ter) | |
| 7 | g.107674988T>C | CA368831247 | SLC26A4 | c.644T>C (p.Leu215Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107674988T>G | CA368831249 | SLC26A4 | c.644T>G (p.Leu215Trp) | |
| 7 | g.107674988T= | CA1732746951 | SLC26A4 | c.644T= (p.Leu215=) | |
| 7 | g.107674989G>A | CA457082432 | SLC26A4 | c.645G>A (p.Leu215=) | |
| 7 | g.107674989G>C | CA368831251 | SLC26A4 | c.645G>C (p.Leu215Phe) | |
| 7 | g.107674989G>T | CA368831253 | SLC26A4 | c.645G>T (p.Leu215Phe) | |
| 7 | g.107674990G>A | CA368831261 | SLC26A4 | c.646G>A (p.Ala216Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107674990G>C | CA368831256 | SLC26A4 | c.646G>C (p.Ala216Pro) | |
| 7 | g.107674990G= | CA1732746954 | SLC26A4 | c.646G= (p.Ala216=) | |
| 7 | g.107674990G>T | CA368831258 | SLC26A4 | c.646G>T (p.Ala216Ser) | |
| 7 | g.107674991C>A | CA368831263 | SLC26A4 | c.647C>A (p.Ala216Glu) | |
| 7 | g.107674991C>G | CA368831266 | SLC26A4 | c.647C>G (p.Ala216Gly) | |
| 7 | g.107674991C>T | CA368831268 | SLC26A4 | c.647C>T (p.Ala216Val) | |
| 7 | g.107674992A>C | CA457082435 | SLC26A4 | c.648A>C (p.Ala216=) | |
| 7 | g.107674992A>G | CA457082437 | SLC26A4 | c.648A>G (p.Ala216=) | |
| 7 | g.107674992A>T | CA457082436 | SLC26A4 | c.648A>T (p.Ala216=) | |
| 7 | g.107674993G>A | CA368831270 | SLC26A4 | c.649G>A (p.Asp217Asn) | gnomAD v4 |
| 7 | g.107674993G>C | CA368831278 | SLC26A4 | c.649G>C (p.Asp217His) | |
| 7 | g.107674993G>T | CA368831279 | SLC26A4 | c.649G>T (p.Asp217Tyr) | |
| 7 | g.107674994A>C | CA368831280 | SLC26A4 | c.650A>C (p.Asp217Ala) | |
| 7 | g.107674994A>G | CA368831282 | SLC26A4 | c.650A>G (p.Asp217Gly) | |
| 7 | g.107674994A>T | CA368831283 | SLC26A4 | c.650A>T (p.Asp217Val) | |
| 7 | g.107674995T>A | CA368831286 | SLC26A4 | c.651T>A (p.Asp217Glu) | gnomAD v4 |
| 7 | g.107674995T>C | CA457082440 | SLC26A4 | c.651T>C (p.Asp217=) | |
| 7 | g.107674995T>G | CA368831288 | SLC26A4 | c.651T>G (p.Asp217Glu) | |
| 7 | g.107674996C>A | CA368831291 | SLC26A4 | c.652C>A (p.Pro218Thr) | gnomAD v4 |
| 7 | g.107674996C>G | CA368831295 | SLC26A4 | c.652C>G (p.Pro218Ala) | |
| 7 | g.107674996C>T | CA368831293 | SLC26A4 | c.652C>T (p.Pro218Ser) | COSMIC |
| 7 | g.107674997C>A | CA368831297 | SLC26A4 | c.653C>A (p.Pro218His) | |
| 7 | g.107674997C= | CA1732746956 | SLC26A4 | c.653C= (p.Pro218=) | |
| 7 | g.107674997C>G | CA368831299 | SLC26A4 | c.653C>G (p.Pro218Arg) | dbSNP |
| 7 | g.107674997C>T | CA4432540 | SLC26A4 | c.653C>T (p.Pro218Leu) | dbSNP ExAC gnomAD v2 COSMIC |
| 7 | g.107674998T>A | CA457082444 | SLC26A4 | c.654T>A (p.Pro218=) | dbSNP |
| 7 | g.107674998T>C | CA457082446 | SLC26A4 | c.654T>C (p.Pro218=) | |
| 7 | g.107674998T>G | CA457082447 | SLC26A4 | c.654T>G (p.Pro218=) | |
| 7 | g.107674998T= | CA1732746962 | SLC26A4 | c.654T= (p.Pro218=) | |
| 7 | g.107674999_107675000dup | CA2684462842 | SLC26A4 | c.655_656dup (p.Leu219PhefsTer19) | gnomAD v4 |
| 7 | g.107674999T>A | CA368831304 | SLC26A4 | c.655T>A (p.Leu219Met) | |
| 7 | g.107674999T>C | CA457082448 | SLC26A4 | c.655T>C (p.Leu219=) | |
| 7 | g.107674999T>G | CA368831306 | SLC26A4 | c.655T>G (p.Leu219Val) | gnomAD v4 |
| 7 | g.107675000T>A | CA368831309 | SLC26A4 | c.656T>A (p.Leu219Ter) | |
| 7 | g.107675000T>C | CA4432541 | SLC26A4 | c.656T>C (p.Leu219Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107675000T>G | CA368831311 | SLC26A4 | c.656T>G (p.Leu219Trp) | |
| 7 | g.107675000T= | CA1732746967 | SLC26A4 | c.656T= (p.Leu219=) | |
| 7 | g.107675001G>A | CA457082450 | SLC26A4 | c.657G>A (p.Leu219=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107675001G>C | CA368831314 | SLC26A4 | c.657G>C (p.Leu219Phe) | |
| 7 | g.107675001G= | CA1732746971 | SLC26A4 | c.657G= (p.Leu219=) | |
| 7 | g.107675001G>T | CA368831316 | SLC26A4 | c.657G>T (p.Leu219Phe) | |
| 7 | g.107675002G>A | CA368831323 | SLC26A4 | c.658G>A (p.Val220Ile) | |
| 7 | g.107675002G>C | CA368831321 | SLC26A4 | c.658G>C (p.Val220Leu) | |
| 7 | g.107675002G= | CA1732746977 | SLC26A4 | c.658G= (p.Val220=) | |
| 7 | g.107675002G>T | CA4432542 | SLC26A4 | c.658G>T (p.Val220Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107675003T>A | CA368831325 | SLC26A4 | c.659T>A (p.Val220Asp) | |
| 7 | g.107675003T>C | CA4432543 | SLC26A4 | c.659T>C (p.Val220Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675003T>G | CA368831329 | SLC26A4 | c.659T>G (p.Val220Gly) | |
| 7 | g.107675003T= | CA1732746980 | SLC26A4 | c.659T= (p.Val220=) | |
| 7 | g.107675004T>A | CA457082453 | SLC26A4 | c.660T>A (p.Val220=) | |
| 7 | g.107675004T>C | CA457082454 | SLC26A4 | c.660T>C (p.Val220=) | |
| 7 | g.107675004T>G | CA457082455 | SLC26A4 | c.660T>G (p.Val220=) | |
| 7 | g.107675005G>A | CA368831334 | SLC26A4 | c.661G>A (p.Gly221Ser) | |
| 7 | g.107675005G>C | CA368831338 | SLC26A4 | c.661G>C (p.Gly221Arg) | |
| 7 | g.107675005G>T | CA368831340 | SLC26A4 | c.661G>T (p.Gly221Cys) | |
| 7 | g.107675006dup | CA2695208344 | SLC26A4 | c.662dup (p.Gly222TrpfsTer?) | |
| 7 | g.107675006G>A | CA368831344 | SLC26A4 | c.662G>A (p.Gly221Asp) | |
| 7 | g.107675006G>C | CA368831345 | SLC26A4 | c.662G>C (p.Gly221Ala) | |
| 7 | g.107675006G>T | CA368831347 | SLC26A4 | c.662G>T (p.Gly221Val) | COSMIC |
| 7 | g.107675007del | CA457082460 | SLC26A4 | c.663del (p.Gly222AlafsTer15) | COSMIC |
| 7 | g.107675007T>A | CA457082457 | SLC26A4 | c.663T>A (p.Gly221=) | |
| 7 | g.107675007T>C | CA457082458 | SLC26A4 | c.663T>C (p.Gly221=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107675007T>G | CA457082459 | SLC26A4 | c.663T>G (p.Gly221=) | |
| 7 | g.107675007T= | CA1732746983 | SLC26A4 | c.663T= (p.Gly221=) | |
| 7 | g.107675008G>A | CA368831349 | SLC26A4 | c.664G>A (p.Gly222Ser) | ClinVar |
| 7 | g.107675008G>C | CA368831351 | SLC26A4 | c.664G>C (p.Gly222Arg) | |
| 7 | g.107675008G>T | CA368831354 | SLC26A4 | c.664G>T (p.Gly222Cys) | ClinVar |
| 7 | g.107675009G>A | CA368831360 | SLC26A4 | c.665G>A (p.Gly222Asp) | ClinVar gnomAD v4 |
| 7 | g.107675009G>C | CA368831361 | SLC26A4 | c.665G>C (p.Gly222Ala) | ClinVar dbSNP |
| 7 | g.107675009G= | CA1732746990 | SLC26A4 | c.665G= (p.Gly222=) | |
| 7 | g.107675009G>T | CA368831357 | SLC26A4 | c.665G>T (p.Gly222Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107675010C>A | CA457082466 | SLC26A4 | c.666C>A (p.Gly222=) | |
| 7 | g.107675010C>G | CA457082467 | SLC26A4 | c.666C>G (p.Gly222=) | |
| 7 | g.107675010C>T | CA457082468 | SLC26A4 | c.666C>T (p.Gly222=) | |
| 7 | g.107675011_107675013dup | CA2573052783 | SLC26A4 | c.667_669dup (p.Phe223_Thr224insPhe) | ClinVar dbSNP |
| 7 | g.107675011T>A | CA368831370 | SLC26A4 | c.667T>A (p.Phe223Ile) | |
| 7 | g.107675011T>C | CA368831364 | SLC26A4 | c.667T>C (p.Phe223Leu) | |
| 7 | g.107675011T>G | CA368831367 | SLC26A4 | c.667T>G (p.Phe223Val) | |
| 7 | g.107675012T>A | CA368831372 | SLC26A4 | c.668T>A (p.Phe223Tyr) | |
| 7 | g.107675012T>C | CA368831375 | SLC26A4 | c.668T>C (p.Phe223Ser) | ClinVar |
| 7 | g.107675012T>G | CA368831377 | SLC26A4 | c.668T>G (p.Phe223Cys) | |
| 7 | g.107675013C>A | CA368831380 | SLC26A4 | c.669C>A (p.Phe223Leu) | |
| 7 | g.107675013C>G | CA368831382 | SLC26A4 | c.669C>G (p.Phe223Leu) | |
| 7 | g.107675013C>T | CA457082470 | SLC26A4 | c.669C>T (p.Phe223=) | |
| 7 | g.107675014A>C | CA368831384 | SLC26A4 | c.670A>C (p.Thr224Pro) | |
| 7 | g.107675014A>G | CA368831386 | SLC26A4 | c.670A>G (p.Thr224Ala) | |
| 7 | g.107675014A>T | CA368831387 | SLC26A4 | c.670A>T (p.Thr224Ser) | |
| 7 | g.107675015C>A | CA368831390 | SLC26A4 | c.671C>A (p.Thr224Lys) | gnomAD v4 |
| 7 | g.107675015C= | CA1732746993 | SLC26A4 | c.671C= (p.Thr224=) | |
| 7 | g.107675015C>G | CA368831393 | SLC26A4 | c.671C>G (p.Thr224Arg) | |
| 7 | g.107675015C>T | CA368831395 | SLC26A4 | c.671C>T (p.Thr224Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675016A>C | CA457082474 | SLC26A4 | c.672A>C (p.Thr224=) | |
| 7 | g.107675016A>G | CA457082475 | SLC26A4 | c.672A>G (p.Thr224=) | |
| 7 | g.107675016A>T | CA457082476 | SLC26A4 | c.672A>T (p.Thr224=) | |
| 7 | g.107675017A= | CA1732746995 | SLC26A4 | c.673A= (p.Thr225=) | |
| 7 | g.107675017A>C | CA368831398 | SLC26A4 | c.673A>C (p.Thr225Pro) | |
| 7 | g.107675017A>G | CA368831403 | SLC26A4 | c.673A>G (p.Thr225Ala) | dbSNP gnomAD v4 |
| 7 | g.107675017A>T | CA368831400 | SLC26A4 | c.673A>T (p.Thr225Ser) | |
| 7 | g.107675018C>A | CA368831407 | SLC26A4 | c.674C>A (p.Thr225Lys) | |
| 7 | g.107675018C>G | CA368831409 | SLC26A4 | c.674C>G (p.Thr225Arg) | |
| 7 | g.107675018C>T | CA368831411 | SLC26A4 | c.674C>T (p.Thr225Ile) | |
| 7 | g.107675019del | CA2499218643 | SLC26A4 | c.675del (p.Ala226LeufsTer11) | ClinVar dbSNP |
| 7 | g.107675019A>C | CA457082478 | SLC26A4 | c.675A>C (p.Thr225=) | |
| 7 | g.107675019A>G | CA457082479 | SLC26A4 | c.675A>G (p.Thr225=) | |
| 7 | g.107675019A>T | CA457082480 | SLC26A4 | c.675A>T (p.Thr225=) | |
| 7 | g.107675020G>A | CA164200044 | SLC26A4 | c.676G>A (p.Ala226Thr) | dbSNP |
| 7 | g.107675020G>C | CA368831415 | SLC26A4 | c.676G>C (p.Ala226Pro) | |
| 7 | g.107675020G= | CA1732746997 | SLC26A4 | c.676G= (p.Ala226=) | |
| 7 | g.107675020G>T | CA368831417 | SLC26A4 | c.676G>T (p.Ala226Ser) | |
| 7 | g.107675021C>A | CA368831421 | SLC26A4 | c.677C>A (p.Ala226Asp) | |
| 7 | g.107675021C>G | CA368831424 | SLC26A4 | c.677C>G (p.Ala226Gly) | |
| 7 | g.107675021C>T | CA368831426 | SLC26A4 | c.677C>T (p.Ala226Val) | |
| 7 | g.107675022T>A | CA457082489 | SLC26A4 | c.678T>A (p.Ala226=) | |
| 7 | g.107675022T>C | CA4432544 | SLC26A4 | c.678T>C (p.Ala226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675022T>G | CA457082491 | SLC26A4 | c.678T>G (p.Ala226=) | |
| 7 | g.107675022T= | CA1732747007 | SLC26A4 | c.678T= (p.Ala226=) | |
| 7 | g.107675023G>A | CA368831432 | SLC26A4 | c.679G>A (p.Ala227Thr) | |
| 7 | g.107675023G>C | CA368831435 | SLC26A4 | c.679G>C (p.Ala227Pro) | |
| 7 | g.107675023G>T | CA368831430 | SLC26A4 | c.679G>T (p.Ala227Ser) | |
| 7 | g.107675024C>A | CA368831437 | SLC26A4 | c.680C>A (p.Ala227Asp) | |
| 7 | g.107675024C>G | CA368831439 | SLC26A4 | c.680C>G (p.Ala227Gly) | |
| 7 | g.107675024C>T | CA368831449 | SLC26A4 | c.680C>T (p.Ala227Val) | |
| 7 | g.107675025T>A | CA457082496 | SLC26A4 | c.681T>A (p.Ala227=) | |
| 7 | g.107675025T>C | CA457082497 | SLC26A4 | c.681T>C (p.Ala227=) | |
| 7 | g.107675025T>G | CA457082499 | SLC26A4 | c.681T>G (p.Ala227=) | |
| 7 | g.107675026_107675042del | CA2695208345 | SLC26A4 | c.682_698del (p.Ala228LeufsTer26) | |
| 7 | g.107675026G>A | CA368831451 | SLC26A4 | c.682G>A (p.Ala228Thr) | |
| 7 | g.107675026G>C | CA368831453 | SLC26A4 | c.682G>C (p.Ala228Pro) | |
| 7 | g.107675026G>T | CA368831454 | SLC26A4 | c.682G>T (p.Ala228Ser) | COSMIC |
| 7 | g.107675027C>A | CA368831455 | SLC26A4 | c.683C>A (p.Ala228Asp) | |
| 7 | g.107675027C>G | CA368831456 | SLC26A4 | c.683C>G (p.Ala228Gly) | |
| 7 | g.107675027C>T | CA368831457 | SLC26A4 | c.683C>T (p.Ala228Val) | gnomAD v4 |
| 7 | g.107675028C>A | CA457082504 | SLC26A4 | c.684C>A (p.Ala228=) | |
| 7 | g.107675028C= | CA1732747011 | SLC26A4 | c.684C= (p.Ala228=) | |
| 7 | g.107675028C>G | CA4432545 | SLC26A4 | c.684C>G (p.Ala228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675028C>T | CA457082505 | SLC26A4 | c.684C>T (p.Ala228=) | |
| 7 | g.107675029T>A | CA368831459 | SLC26A4 | c.685T>A (p.Phe229Ile) | |
| 7 | g.107675029T>C | CA368831460 | SLC26A4 | c.685T>C (p.Phe229Leu) | |
| 7 | g.107675029T>G | CA368831461 | SLC26A4 | c.685T>G (p.Phe229Val) | |
| 7 | g.107675030T>A | CA4432546 | SLC26A4 | c.686T>A (p.Phe229Tyr) | dbSNP ExAC gnomAD v2 |
| 7 | g.107675030T>C | CA368831465 | SLC26A4 | c.686T>C (p.Phe229Ser) | |
| 7 | g.107675030T>G | CA368831463 | SLC26A4 | c.686T>G (p.Phe229Cys) | |
| 7 | g.107675030T= | CA1732747017 | SLC26A4 | c.686T= (p.Phe229=) | |
| 7 | g.107675031C>A | CA368831470 | SLC26A4 | c.687C>A (p.Phe229Leu) | |
| 7 | g.107675031C>G | CA368831472 | SLC26A4 | c.687C>G (p.Phe229Leu) | gnomAD v4 |
| 7 | g.107675031C>T | CA457082510 | SLC26A4 | c.687C>T (p.Phe229=) | |
| 7 | g.107675032C>A | CA368831476 | SLC26A4 | c.688C>A (p.Gln230Lys) | |
| 7 | g.107675032C>G | CA368831478 | SLC26A4 | c.688C>G (p.Gln230Glu) | |
| 7 | g.107675032C>T | CA368831481 | SLC26A4 | c.688C>T (p.Gln230Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.107675033A>C | CA368831483 | SLC26A4 | c.689A>C (p.Gln230Pro) | |
| 7 | g.107675033A>G | CA368831486 | SLC26A4 | c.689A>G (p.Gln230Arg) | |
| 7 | g.107675033A>T | CA368831488 | SLC26A4 | c.689A>T (p.Gln230Leu) | |
| 7 | g.107675034A>C | CA368831491 | SLC26A4 | c.690A>C (p.Gln230His) | |
| 7 | g.107675034A>G | CA457082514 | SLC26A4 | c.690A>G (p.Gln230=) | |
| 7 | g.107675034A>T | CA368831492 | SLC26A4 | c.690A>T (p.Gln230His) | |
| 7 | g.107675035G>A | CA368831551 | SLC26A4 | c.691G>A (p.Val231Met) | ClinVar dbSNP |
| 7 | g.107675035G>C | CA269900 | SLC26A4 | c.691G>C (p.Val231Leu) | ClinVar dbSNP |
| 7 | g.107675035G= | CA1732747020 | SLC26A4 | c.691G= (p.Val231=) | |
| 7 | g.107675035G>T | CA368831554 | SLC26A4 | c.691G>T (p.Val231Leu) | |
| 7 | g.107675036T>A | CA368831563 | SLC26A4 | c.692T>A (p.Val231Glu) | |
| 7 | g.107675036T>C | CA368831565 | SLC26A4 | c.692T>C (p.Val231Ala) | ClinVar gnomAD v4 |
| 7 | g.107675036T>G | CA368831558 | SLC26A4 | c.692T>G (p.Val231Gly) | |
| 7 | g.107675037G>A | CA457082519 | SLC26A4 | c.693G>A (p.Val231=) | |
| 7 | g.107675037G>C | CA457082517 | SLC26A4 | c.693G>C (p.Val231=) | gnomAD v4 |
| 7 | g.107675037G>T | CA457082516 | SLC26A4 | c.693G>T (p.Val231=) | |
| 7 | g.107675038C>A | CA368831570 | SLC26A4 | c.694C>A (p.Leu232Met) | |
| 7 | g.107675038C>G | CA368831568 | SLC26A4 | c.694C>G (p.Leu232Val) | |
| 7 | g.107675038C>T | CA457082520 | SLC26A4 | c.694C>T (p.Leu232=) | |
| 7 | g.107675039T>A | CA4432547 | SLC26A4 | c.695T>A (p.Leu232Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107675039T>C | CA368831575 | SLC26A4 | c.695T>C (p.Leu232Pro) | |
| 7 | g.107675039T>G | CA368831582 | SLC26A4 | c.695T>G (p.Leu232Arg) | |
| 7 | g.107675039T= | CA1732747025 | SLC26A4 | c.695T= (p.Leu232=) | |
| 7 | g.107675040G>A | CA457082521 | SLC26A4 | c.696G>A (p.Leu232=) | |
| 7 | g.107675040G>C | CA457082525 | SLC26A4 | c.696G>C (p.Leu232=) | |
| 7 | g.107675040G>T | CA457082523 | SLC26A4 | c.696G>T (p.Leu232=) | |
| 7 | g.107675041G>A | CA368831584 | SLC26A4 | c.697G>A (p.Val233Ile) | |
| 7 | g.107675041G>C | CA132736 | SLC26A4 | c.697G>C (p.Val233Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675041G= | CA1732747030 | SLC26A4 | c.697G= (p.Val233=) | |
| 7 | g.107675041G>T | CA368831587 | SLC26A4 | c.697G>T (p.Val233Phe) | |
| 7 | g.107675042T>A | CA368831590 | SLC26A4 | c.698T>A (p.Val233Asp) | |
| 7 | g.107675042T>C | CA368831592 | SLC26A4 | c.698T>C (p.Val233Ala) | |
| 7 | g.107675042T>G | CA368831596 | SLC26A4 | c.698T>G (p.Val233Gly) | |
| 7 | g.107675042_107675045del | CA2573052784 | SLC26A4 | c.698_701del (p.Val233AspfsTer3) | ClinVar dbSNP |
| 7 | g.107675043C>A | CA457082528 | SLC26A4 | c.699C>A (p.Val233=) | |
| 7 | g.107675043C>G | CA457082530 | SLC26A4 | c.699C>G (p.Val233=) | |
| 7 | g.107675043C>T | CA457082533 | SLC26A4 | c.699C>T (p.Val233=) | ClinVar |
| 7 | g.107675044T>A | CA368831600 | SLC26A4 | c.700T>A (p.Ser234Thr) | |
| 7 | g.107675044T>C | CA368831602 | SLC26A4 | c.700T>C (p.Ser234Pro) | |
| 7 | g.107675044T>G | CA368831603 | SLC26A4 | c.700T>G (p.Ser234Ala) | |
| 7 | g.107675045C>A | CA368831609 | SLC26A4 | c.701C>A (p.Ser234Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107675045C= | CA1732747034 | SLC26A4 | c.701C= (p.Ser234=) | |
| 7 | g.107675045C>G | CA368831606 | SLC26A4 | c.701C>G (p.Ser234Ter) | |
| 7 | g.107675045C>T | CA4432548 | SLC26A4 | c.701C>T (p.Ser234Leu) | dbSNP ExAC |
| 7 | g.107675046A>C | CA457082534 | SLC26A4 | c.702A>C (p.Ser234=) | |
| 7 | g.107675046A>G | CA457082535 | SLC26A4 | c.702A>G (p.Ser234=) | |
| 7 | g.107675046A>T | CA457082536 | SLC26A4 | c.702A>T (p.Ser234=) | ClinVar dbSNP |
| 7 | g.107675047C>A | CA368831611 | SLC26A4 | c.703C>A (p.Gln235Lys) | |
| 7 | g.107675047C>G | CA368831613 | SLC26A4 | c.703C>G (p.Gln235Glu) | |
| 7 | g.107675047C>T | CA368831614 | SLC26A4 | c.703C>T (p.Gln235Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107675048A= | CA1732747038 | SLC26A4 | c.704A= (p.Gln235=) | |
| 7 | g.107675048A>C | CA368831615 | SLC26A4 | c.704A>C (p.Gln235Pro) | |
| 7 | g.107675048A>G | CA4432549 | SLC26A4 | c.704A>G (p.Gln235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675048A>T | CA368831616 | SLC26A4 | c.704A>T (p.Gln235Leu) | |
| 7 | g.107675049G>A | CA457082541 | SLC26A4 | c.705G>A (p.Gln235=) | |
| 7 | g.107675049G>C | CA368831617 | SLC26A4 | c.705G>C (p.Gln235His) | |
| 7 | g.107675049G>T | CA368831618 | SLC26A4 | c.705G>T (p.Gln235His) | |
| 7 | g.107675050C>A | CA368831619 | SLC26A4 | c.706C>A (p.Leu236Ile) | |
| 7 | g.107675050C= | CA1732747041 | SLC26A4 | c.706C= (p.Leu236=) | |
| 7 | g.107675050C>G | CA132738 | SLC26A4 | c.706C>G (p.Leu236Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107675050C>T | CA457082543 | SLC26A4 | c.706C>T (p.Leu236=) | |
| 7 | g.107675051T>A | CA368831620 | SLC26A4 | c.707T>A (p.Leu236Gln) | |
| 7 | g.107675051T>C | CA261437 | SLC26A4 | c.707T>C (p.Leu236Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675051T>G | CA368831623 | SLC26A4 | c.707T>G (p.Leu236Arg) | |
| 7 | g.107675051T= | CA1732747046 | SLC26A4 | c.707T= (p.Leu236=) | |
| 7 | g.107675052A= | CA1732747056 | SLC26A4 | c.708A= (p.Leu236=) | |
| 7 | g.107675052A>C | CA457082547 | SLC26A4 | c.708A>C (p.Leu236=) | |
| 7 | g.107675052A>G | CA4432550 | SLC26A4 | c.708A>G (p.Leu236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107675052A>T | CA457082548 | SLC26A4 | c.708A>T (p.Leu236=) | |
| 7 | g.107675054del | CA2695208346 | SLC26A4 | c.710del (p.Lys237ArgfsTer?) | |
| 7 | g.107675053A= | CA1732747061 | SLC26A4 | c.709A= (p.Lys237=) | |
| 7 | g.107675053A>C | CA368831628 | SLC26A4 | c.709A>C (p.Lys237Gln) | dbSNP |
| 7 | g.107675053A>G | CA368831626 | SLC26A4 | c.709A>G (p.Lys237Glu) | |
| 7 | g.107675053A>T | CA368831630 | SLC26A4 | c.709A>T (p.Lys237Ter) | |
| 7 | g.107675054A>C | CA368831633 | SLC26A4 | c.710A>C (p.Lys237Thr) | |
| 7 | g.107675054A>G | CA368831635 | SLC26A4 | c.710A>G (p.Lys237Arg) | |
| 7 | g.107675054A>T | CA368831637 | SLC26A4 | c.710A>T (p.Lys237Met) |