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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107690145A= | CA1732748238 | SLC26A4 | c.1171A= (p.Ser391=) | |
| 7 | g.107690145A>C | CA368839153 | SLC26A4 | c.1171A>C (p.Ser391Arg) | ClinVar dbSNP |
| 7 | g.107690145A>G | CA368839152 | SLC26A4 | c.1171A>G (p.Ser391Gly) | gnomAD v4 |
| 7 | g.107690145A>T | CA368839154 | SLC26A4 | c.1171A>T (p.Ser391Cys) | |
| 7 | g.107690146G>A | CA368839155 | SLC26A4 | c.1172G>A (p.Ser391Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690146G>C | CA368839156 | SLC26A4 | c.1172G>C (p.Ser391Thr) | |
| 7 | g.107690146G= | CA1732748241 | SLC26A4 | c.1172G= (p.Ser391=) | |
| 7 | g.107690146G>T | CA368839157 | SLC26A4 | c.1172G>T (p.Ser391Ile) | |
| 7 | g.107690147C>A | CA16041107 | SLC26A4 | c.1173C>A (p.Ser391Arg) | ClinVar dbSNP |
| 7 | g.107690147C= | CA1732748246 | SLC26A4 | c.1173C= (p.Ser391=) | |
| 7 | g.107690147C>G | CA368839158 | SLC26A4 | c.1173C>G (p.Ser391Arg) | |
| 7 | g.107690147C>T | CA457090340 | SLC26A4 | c.1173C>T (p.Ser391=) | |
| 7 | g.107690148A= | CA1732748254 | SLC26A4 | c.1174A= (p.Asn392=) | |
| 7 | g.107690148A>C | CA368839159 | SLC26A4 | c.1174A>C (p.Asn392His) | |
| 7 | g.107690148A>G | CA368839160 | SLC26A4 | c.1174A>G (p.Asn392Asp) | |
| 7 | g.107690148A>T | CA4432714 | SLC26A4 | c.1174A>T (p.Asn392Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690149A>C | CA368839161 | SLC26A4 | c.1175A>C (p.Asn392Thr) | |
| 7 | g.107690149A>G | CA368839162 | SLC26A4 | c.1175A>G (p.Asn392Ser) | |
| 7 | g.107690149A>T | CA368839163 | SLC26A4 | c.1175A>T (p.Asn392Ile) | |
| 7 | g.107690150C>A | CA368839164 | SLC26A4 | c.1176C>A (p.Asn392Lys) | gnomAD v4 |
| 7 | g.107690150C>G | CA368839165 | SLC26A4 | c.1176C>G (p.Asn392Lys) | |
| 7 | g.107690150C>T | CA457090360 | SLC26A4 | c.1176C>T (p.Asn392=) | |
| 7 | g.107690151A= | CA1732748260 | SLC26A4 | c.1177A= (p.Ile393=) | |
| 7 | g.107690151A>C | CA368839166 | SLC26A4 | c.1177A>C (p.Ile393Leu) | gnomAD v4 |
| 7 | g.107690151A>G | CA4432716 | SLC26A4 | c.1177A>G (p.Ile393Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690151A>T | CA164211017 | SLC26A4 | c.1177A>T (p.Ile393Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690151_107690154delinsATCT | CA1732748262 | SLC26A4 | c.1177_1180delinsATCT (p.Ile393=) | |
| 7 | g.107690152T>A | CA368839167 | SLC26A4 | c.1178T>A (p.Ile393Asn) | |
| 7 | g.107690152T>C | CA368839168 | SLC26A4 | c.1178T>C (p.Ile393Thr) | gnomAD v4 |
| 7 | g.107690152T>G | CA368839169 | SLC26A4 | c.1178T>G (p.Ile393Ser) | |
| 7 | g.107690155_107690157del | CA4432715 | SLC26A4 | c.1181_1183del (p.Phe394del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690153C>A | CA457090401 | SLC26A4 | c.1179C>A (p.Ile393=) | gnomAD v4 |
| 7 | g.107690153C>G | CA368839170 | SLC26A4 | c.1179C>G (p.Ile393Met) | |
| 7 | g.107690153C>T | CA457090403 | SLC26A4 | c.1179C>T (p.Ile393=) | |
| 7 | g.107690154T>A | CA368839171 | SLC26A4 | c.1180T>A (p.Phe394Ile) | |
| 7 | g.107690154T>C | CA368839172 | SLC26A4 | c.1180T>C (p.Phe394Leu) | |
| 7 | g.107690154T>G | CA368839173 | SLC26A4 | c.1180T>G (p.Phe394Val) | |
| 7 | g.107690155del | CA2739278395 | SLC26A4 | c.1181del (p.Phe394SerfsTer?) | ClinVar |
| 7 | g.107690155T>A | CA368839174 | SLC26A4 | c.1181T>A (p.Phe394Tyr) | |
| 7 | g.107690155T>C | CA368839175 | SLC26A4 | c.1181T>C (p.Phe394Ser) | |
| 7 | g.107690155T>G | CA368839176 | SLC26A4 | c.1181T>G (p.Phe394Cys) | |
| 7 | g.107690156C>A | CA368839177 | SLC26A4 | c.1182C>A (p.Phe394Leu) | |
| 7 | g.107690156C>G | CA368839178 | SLC26A4 | c.1182C>G (p.Phe394Leu) | |
| 7 | g.107690156C>T | CA457090429 | SLC26A4 | c.1182C>T (p.Phe394=) | |
| 7 | g.107690157T>A | CA368839179 | SLC26A4 | c.1183T>A (p.Ser395Thr) | |
| 7 | g.107690157T>C | CA368839180 | SLC26A4 | c.1183T>C (p.Ser395Pro) | gnomAD v4 |
| 7 | g.107690157T>G | CA368839181 | SLC26A4 | c.1183T>G (p.Ser395Ala) | |
| 7 | g.107690158C>A | CA368839182 | SLC26A4 | c.1184C>A (p.Ser395Ter) | |
| 7 | g.107690158C>G | CA368839183 | SLC26A4 | c.1184C>G (p.Ser395Ter) | |
| 7 | g.107690158C>T | CA368839184 | SLC26A4 | c.1184C>T (p.Ser395Leu) | |
| 7 | g.107690159A>C | CA457090457 | SLC26A4 | c.1185A>C (p.Ser395=) | ClinVar gnomAD v4 |
| 7 | g.107690159A>G | CA457090471 | SLC26A4 | c.1185A>G (p.Ser395=) | gnomAD v4 |
| 7 | g.107690159A>T | CA457090460 | SLC26A4 | c.1185A>T (p.Ser395=) | |
| 7 | g.107690160G>A | CA368839185 | SLC26A4 | c.1186G>A (p.Gly396Arg) | |
| 7 | g.107690160G>C | CA368839186 | SLC26A4 | c.1186G>C (p.Gly396Arg) | |
| 7 | g.107690160G>T | CA368839187 | SLC26A4 | c.1186G>T (p.Gly396Ter) | |
| 7 | g.107690161G>A | CA368839188 | SLC26A4 | c.1187G>A (p.Gly396Glu) | |
| 7 | g.107690161G>C | CA368839189 | SLC26A4 | c.1187G>C (p.Gly396Ala) | |
| 7 | g.107690161G>T | CA368839190 | SLC26A4 | c.1187G>T (p.Gly396Val) | COSMIC |
| 7 | g.107690162A= | CA1732748272 | SLC26A4 | c.1188A= (p.Gly396=) | |
| 7 | g.107690162A>C | CA457090490 | SLC26A4 | c.1188A>C (p.Gly396=) | |
| 7 | g.107690162A>G | CA457090493 | SLC26A4 | c.1188A>G (p.Gly396=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690162A>T | CA457090495 | SLC26A4 | c.1188A>T (p.Gly396=) | |
| 7 | g.107690163T>A | CA368839192 | SLC26A4 | c.1189T>A (p.Phe397Ile) | |
| 7 | g.107690163T>C | CA368839193 | SLC26A4 | c.1189T>C (p.Phe397Leu) | |
| 7 | g.107690163T>G | CA368839191 | SLC26A4 | c.1189T>G (p.Phe397Val) | |
| 7 | g.107690164T>A | CA368839194 | SLC26A4 | c.1190T>A (p.Phe397Tyr) | |
| 7 | g.107690164T>C | CA368839195 | SLC26A4 | c.1190T>C (p.Phe397Ser) | |
| 7 | g.107690164T>G | CA368839196 | SLC26A4 | c.1190T>G (p.Phe397Cys) | |
| 7 | g.107690168_107690172del | CA2499218633 | SLC26A4 | c.1194_1198del (p.Phe398LeufsTer?) | ClinVar dbSNP |
| 7 | g.107690165del | CA2580076155 | SLC26A4 | c.1191del (p.Phe398SerfsTer?) | ClinVar |
| 7 | g.107690165C>A | CA368839197 | SLC26A4 | c.1191C>A (p.Phe397Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690165C= | CA1732748275 | SLC26A4 | c.1191C= (p.Phe397=) | |
| 7 | g.107690165C>G | CA368839198 | SLC26A4 | c.1191C>G (p.Phe397Leu) | |
| 7 | g.107690165C>T | CA457090527 | SLC26A4 | c.1191C>T (p.Phe397=) | |
| 7 | g.107690166T>A | CA368839201 | SLC26A4 | c.1192T>A (p.Phe398Ile) | |
| 7 | g.107690166T>C | CA368839199 | SLC26A4 | c.1192T>C (p.Phe398Leu) | |
| 7 | g.107690166T>G | CA368839200 | SLC26A4 | c.1192T>G (p.Phe398Val) | |
| 7 | g.107690167T>A | CA368839202 | SLC26A4 | c.1193T>A (p.Phe398Tyr) | |
| 7 | g.107690167T>C | CA368839203 | SLC26A4 | c.1193T>C (p.Phe398Ser) | |
| 7 | g.107690167T>G | CA368839204 | SLC26A4 | c.1193T>G (p.Phe398Cys) | gnomAD v4 |
| 7 | g.107690168C>A | CA368839205 | SLC26A4 | c.1194C>A (p.Phe398Leu) | |
| 7 | g.107690168C= | CA1732748282 | SLC26A4 | c.1194C= (p.Phe398=) | |
| 7 | g.107690168C>G | CA368839206 | SLC26A4 | c.1194C>G (p.Phe398Leu) | |
| 7 | g.107690168C>T | CA457090542 | SLC26A4 | c.1194C>T (p.Phe398=) | ClinVar dbSNP |
| 7 | g.107690169T>A | CA368839207 | SLC26A4 | c.1195T>A (p.Ser399Thr) | |
| 7 | g.107690169T>C | CA4432717 | SLC26A4 | c.1195T>C (p.Ser399Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690169T>G | CA368839208 | SLC26A4 | c.1195T>G (p.Ser399Ala) | |
| 7 | g.107690169T= | CA1732748289 | SLC26A4 | c.1195T= (p.Ser399=) | |
| 7 | g.107690170C>A | CA368839209 | SLC26A4 | c.1196C>A (p.Ser399Tyr) | |
| 7 | g.107690170C= | CA1732748298 | SLC26A4 | c.1196C= (p.Ser399=) | |
| 7 | g.107690170C>G | CA368839210 | SLC26A4 | c.1196C>G (p.Ser399Cys) | |
| 7 | g.107690170C>T | CA4432718 | SLC26A4 | c.1196C>T (p.Ser399Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690170_107690171delinsCT | CA1732748295 | SLC26A4 | c.1196_1197delinsCT (p.Ser399=) | |
| 7 | g.107690171T>A | CA457090564 | SLC26A4 | c.1197T>A (p.Ser399=) | |
| 7 | g.107690171T>C | CA457090567 | SLC26A4 | c.1197T>C (p.Ser399=) | ClinVar dbSNP |
| 7 | g.107690171T>G | CA457090571 | SLC26A4 | c.1197T>G (p.Ser399=) | |
| 7 | g.107690171_107690172del | CA2695203120 | SLC26A4 | c.1197_1198del (p.Cys400PhefsTer?) | |
| 7 | g.107690172dup | CA2695203119 | SLC26A4 | c.1198dup (p.Cys400LeufsTer?) | |
| 7 | g.107690172del | CA261399 | SLC26A4 | c.1198del (p.Cys400ValfsTer?) c.1198del (p.Cys400ValfsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690172T>A | CA368839211 | SLC26A4 | c.1198T>A (p.Cys400Ser) | |
| 7 | g.107690172T>C | CA368839212 | SLC26A4 | c.1198T>C (p.Cys400Arg) | dbSNP |
| 7 | g.107690172T>G | CA368839213 | SLC26A4 | c.1198T>G (p.Cys400Gly) | |
| 7 | g.107690173G>A | CA368839214 | SLC26A4 | c.1199G>A (p.Cys400Tyr) | gnomAD v4 |
| 7 | g.107690173G>C | CA368839215 | SLC26A4 | c.1199G>C (p.Cys400Ser) | |
| 7 | g.107690173G>T | CA368839216 | SLC26A4 | c.1199G>T (p.Cys400Phe) | |
| 7 | g.107690173_107690174delinsGT | CA1732748309 | SLC26A4 | c.1199_1200delinsGT (p.Cys400=) | |
| 7 | g.107690174T>A | CA368839217 | SLC26A4 | c.1200T>A (p.Cys400Ter) | |
| 7 | g.107690174T>C | CA457090580 | SLC26A4 | c.1200T>C (p.Cys400=) | |
| 7 | g.107690174T>G | CA368839218 | SLC26A4 | c.1200T>G (p.Cys400Trp) | |
| 7 | g.107690177del | CA1732748312 | SLC26A4 | c.1203del (p.Phe401LeufsTer?) c.1203del (p.Phe401LeufsTer28) | dbSNP |
| 7 | g.107690175T>A | CA368839221 | SLC26A4 | c.1201T>A (p.Phe401Ile) | |
| 7 | g.107690175T>C | CA368839220 | SLC26A4 | c.1201T>C (p.Phe401Leu) | |
| 7 | g.107690175T>G | CA368839219 | SLC26A4 | c.1201T>G (p.Phe401Val) | |
| 7 | g.107690176T>A | CA368839222 | SLC26A4 | c.1202T>A (p.Phe401Tyr) | |
| 7 | g.107690176T>C | CA4432719 | SLC26A4 | c.1202T>C (p.Phe401Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690176T>G | CA368839223 | SLC26A4 | c.1202T>G (p.Phe401Cys) | |
| 7 | g.107690176T= | CA1732748315 | SLC26A4 | c.1202T= (p.Phe401=) | |
| 7 | g.107690177T>A | CA368839224 | SLC26A4 | c.1203T>A (p.Phe401Leu) | |
| 7 | g.107690177T>C | CA457090608 | SLC26A4 | c.1203T>C (p.Phe401=) | gnomAD v4 |
| 7 | g.107690177T>G | CA368839225 | SLC26A4 | c.1203T>G (p.Phe401Leu) | |
| 7 | g.107690178G>A | CA261400 | SLC26A4 | c.1204G>A (p.Val402Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690178G>C | CA368839226 | SLC26A4 | c.1204G>C (p.Val402Leu) | |
| 7 | g.107690178G= | CA1732748321 | SLC26A4 | c.1204G= (p.Val402=) | |
| 7 | g.107690178G>T | CA368839227 | SLC26A4 | c.1204G>T (p.Val402Leu) | |
| 7 | g.107690179T>A | CA368839228 | SLC26A4 | c.1205T>A (p.Val402Glu) | |
| 7 | g.107690179T>C | CA368839229 | SLC26A4 | c.1205T>C (p.Val402Ala) | gnomAD v4 |
| 7 | g.107690179T>G | CA368839230 | SLC26A4 | c.1205T>G (p.Val402Gly) | |
| 7 | g.107690180G>A | CA164211034 | SLC26A4 | c.1206G>A (p.Val402=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690180G>C | CA457090637 | SLC26A4 | c.1206G>C (p.Val402=) | |
| 7 | g.107690180G= | CA1732748325 | SLC26A4 | c.1206G= (p.Val402=) | |
| 7 | g.107690180G>T | CA457090635 | SLC26A4 | c.1206G>T (p.Val402=) | ClinVar |
| 7 | g.107690181G>A | CA368839231 | SLC26A4 | c.1207G>A (p.Ala403Thr) | |
| 7 | g.107690181G>C | CA368839232 | SLC26A4 | c.1207G>C (p.Ala403Pro) | |
| 7 | g.107690181G= | CA1732748330 | SLC26A4 | c.1207G= (p.Ala403=) | |
| 7 | g.107690181G>T | CA368839233 | SLC26A4 | c.1207G>T (p.Ala403Ser) | dbSNP gnomAD v4 |
| 7 | g.107690182C>A | CA368839236 | SLC26A4 | c.1208C>A (p.Ala403Asp) | gnomAD v4 |
| 7 | g.107690182C>G | CA368839235 | SLC26A4 | c.1208C>G (p.Ala403Gly) | |
| 7 | g.107690182C>T | CA368839234 | SLC26A4 | c.1208C>T (p.Ala403Val) | |
| 7 | g.107690183C>A | CA457090656 | SLC26A4 | c.1209C>A (p.Ala403=) | |
| 7 | g.107690183C= | CA1732748332 | SLC26A4 | c.1209C= (p.Ala403=) | |
| 7 | g.107690183C>G | CA457090658 | SLC26A4 | c.1209C>G (p.Ala403=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690183C>T | CA457090661 | SLC26A4 | c.1209C>T (p.Ala403=) | |
| 7 | g.107690184A>C | CA368839237 | SLC26A4 | c.1210A>C (p.Thr404Pro) | |
| 7 | g.107690184A>G | CA368839238 | SLC26A4 | c.1210A>G (p.Thr404Ala) | COSMIC |
| 7 | g.107690184A>T | CA368839239 | SLC26A4 | c.1210A>T (p.Thr404Ser) | |
| 7 | g.107690185C>A | CA368839240 | SLC26A4 | c.1211C>A (p.Thr404Asn) | |
| 7 | g.107690185C= | CA1732748335 | SLC26A4 | c.1211C= (p.Thr404=) | |
| 7 | g.107690185C>G | CA368839241 | SLC26A4 | c.1211C>G (p.Thr404Ser) | |
| 7 | g.107690185C>T | CA164211035 | SLC26A4 | c.1211C>T (p.Thr404Ile) | dbSNP gnomAD v4 |
| 7 | g.107690186C>A | CA457090684 | SLC26A4 | c.1212C>A (p.Thr404=) | ClinVar dbSNP |
| 7 | g.107690186C>G | CA457090687 | SLC26A4 | c.1212C>G (p.Thr404=) | |
| 7 | g.107690186C>T | CA457090691 | SLC26A4 | c.1212C>T (p.Thr404=) | gnomAD v4 |
| 7 | g.107690187A>C | CA368839242 | SLC26A4 | c.1213A>C (p.Thr405Pro) | gnomAD v4 |
| 7 | g.107690187A>G | CA368839243 | SLC26A4 | c.1213A>G (p.Thr405Ala) | gnomAD v4 |
| 7 | g.107690187A>T | CA368839244 | SLC26A4 | c.1213A>T (p.Thr405Ser) | |
| 7 | g.107690188C>A | CA4432720 | SLC26A4 | c.1214C>A (p.Thr405Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690188C= | CA1732748337 | SLC26A4 | c.1214C= (p.Thr405=) | |
| 7 | g.107690188C>G | CA368839245 | SLC26A4 | c.1214C>G (p.Thr405Ser) | |
| 7 | g.107690188C>T | CA368839246 | SLC26A4 | c.1214C>T (p.Thr405Ile) | |
| 7 | g.107690190_107690194del | CA2739278396 | SLC26A4 | c.1216_1220del (p.Ala406PhefsTer?) | ClinVar |
| 7 | g.107690189T>A | CA457090706 | SLC26A4 | c.1215T>A (p.Thr405=) | |
| 7 | g.107690189T>C | CA457090701 | SLC26A4 | c.1215T>C (p.Thr405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690189T>G | CA457090704 | SLC26A4 | c.1215T>G (p.Thr405=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690189T= | CA1732748340 | SLC26A4 | c.1215T= (p.Thr405=) | |
| 7 | g.107690190del | CA2684466522 | SLC26A4 | c.1216del (p.Ala406LeufsTer26) c.1216del (p.Ala406LeufsTer?) c.1216del (p.Ala406LeufsTer23) | gnomAD v4 |
| 7 | g.107690190G>A | CA368839249 | SLC26A4 | c.1216G>A (p.Ala406Thr) | |
| 7 | g.107690190G>C | CA368839248 | SLC26A4 | c.1216G>C (p.Ala406Pro) | dbSNP |
| 7 | g.107690190G= | CA1732748344 | SLC26A4 | c.1216G= (p.Ala406=) | |
| 7 | g.107690190G>T | CA368839247 | SLC26A4 | c.1216G>T (p.Ala406Ser) | |
| 7 | g.107690190_107690192delinsC | CA2695198373 | SLC26A4 | c.1216_1218delinsC (p.Ala406ProfsTer?) | ClinVar |
| 7 | g.107690191C>A | CA368839250 | SLC26A4 | c.1217C>A (p.Ala406Asp) | |
| 7 | g.107690191C>G | CA368839251 | SLC26A4 | c.1217C>G (p.Ala406Gly) | |
| 7 | g.107690191C>T | CA368839252 | SLC26A4 | c.1217C>T (p.Ala406Val) | |
| 7 | g.107690193_107690194del | CA2695203122 | SLC26A4 | c.1219_1220del (p.Leu407PhefsTer?) | |
| 7 | g.107690192T>A | CA457090723 | SLC26A4 | c.1218T>A (p.Ala406=) | |
| 7 | g.107690192T>C | CA457090734 | SLC26A4 | c.1218T>C (p.Ala406=) | dbSNP gnomAD v4 |
| 7 | g.107690192T>G | CA457090738 | SLC26A4 | c.1218T>G (p.Ala406=) | |
| 7 | g.107690192T= | CA1732748347 | SLC26A4 | c.1218T= (p.Ala406=) | |
| 7 | g.107690193C>A | CA368839253 | SLC26A4 | c.1219C>A (p.Leu407Ile) | gnomAD v4 |
| 7 | g.107690193C>G | CA368839254 | SLC26A4 | c.1219C>G (p.Leu407Val) | |
| 7 | g.107690193C>T | CA368839255 | SLC26A4 | c.1219C>T (p.Leu407Phe) | |
| 7 | g.107690193_107690194delinsCT | CA1732748350 | SLC26A4 | c.1219_1220delinsCT (p.Leu407=) | |
| 7 | g.107690194T>A | CA368839256 | SLC26A4 | c.1220T>A (p.Leu407His) | |
| 7 | g.107690194T>C | CA368839257 | SLC26A4 | c.1220T>C (p.Leu407Pro) | |
| 7 | g.107690194T>G | CA368839258 | SLC26A4 | c.1220T>G (p.Leu407Arg) | |
| 7 | g.107690196del | CA10605055 | SLC26A4 | c.1222del (p.Ser408ProfsTer24) c.1222del (p.Ser408ProfsTer?) c.1222del (p.Ser408ProfsTer21) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690195T>A | CA457090761 | SLC26A4 | c.1221T>A (p.Leu407=) | |
| 7 | g.107690195T>C | CA457090765 | SLC26A4 | c.1221T>C (p.Leu407=) | ClinVar dbSNP |
| 7 | g.107690195T>G | CA457090767 | SLC26A4 | c.1221T>G (p.Leu407=) | dbSNP |
| 7 | g.107690195T= | CA1732748356 | SLC26A4 | c.1221T= (p.Leu407=) | |
| 7 | g.107690196T>A | CA368839259 | SLC26A4 | c.1222T>A (p.Ser408Thr) | |
| 7 | g.107690196T>C | CA368839260 | SLC26A4 | c.1222T>C (p.Ser408Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690196T>G | CA368839261 | SLC26A4 | c.1222T>G (p.Ser408Ala) | |
| 7 | g.107690196T= | CA1732748359 | SLC26A4 | c.1222T= (p.Ser408=) | |
| 7 | g.107690196_107690198delinsTCC | CA1732748362 | SLC26A4 | c.1222_1224delinsTCC (p.Ser408=) | |
| 7 | g.107690197C>A | CA368839263 | SLC26A4 | c.1223C>A (p.Ser408Tyr) | |
| 7 | g.107690197C= | CA1732748367 | SLC26A4 | c.1223C= (p.Ser408=) | |
| 7 | g.107690197C>G | CA368839264 | SLC26A4 | c.1223C>G (p.Ser408Cys) | |
| 7 | g.107690197C>T | CA368839262 | SLC26A4 | c.1223C>T (p.Ser408Phe) | ClinVar dbSNP |
| 7 | g.107690198_107690199del | CA1732748366 | SLC26A4 | c.1224_1225del (p.Arg409HisfsTer?) | dbSNP |
| 7 | g.107690198C>A | CA457090792 | SLC26A4 | c.1224C>A (p.Ser408=) | |
| 7 | g.107690198C= | CA1732748371 | SLC26A4 | c.1224C= (p.Ser408=) | |
| 7 | g.107690198C>G | CA457090795 | SLC26A4 | c.1224C>G (p.Ser408=) | |
| 7 | g.107690198C>T | CA4432721 | SLC26A4 | c.1224C>T (p.Ser408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690199C>A | CA368839266 | SLC26A4 | c.1225C>A (p.Arg409Ser) | |
| 7 | g.107690199C= | CA1732748375 | SLC26A4 | c.1225C= (p.Arg409=) | |
| 7 | g.107690199C>G | CA368839265 | SLC26A4 | c.1225C>G (p.Arg409Gly) | |
| 7 | g.107690199C>T | CA4432722 | SLC26A4 | c.1225C>T (p.Arg409Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690200G>A | CA261401 | SLC26A4 | c.1226G>A (p.Arg409His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690200G>C | CA261402 | SLC26A4 | c.1226G>C (p.Arg409Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690200G= | CA1732748383 | SLC26A4 | c.1226G= (p.Arg409=) | |
| 7 | g.107690200G>T | CA368839267 | SLC26A4 | c.1226G>T (p.Arg409Leu) | ClinVar gnomAD v4 |
| 7 | g.107690201C>A | CA457090820 | SLC26A4 | c.1227C>A (p.Arg409=) | gnomAD v4 |
| 7 | g.107690201C>G | CA457090827 | SLC26A4 | c.1227C>G (p.Arg409=) | |
| 7 | g.107690201C>T | CA457090830 | SLC26A4 | c.1227C>T (p.Arg409=) | |
| 7 | g.107690202A= | CA1732748389 | SLC26A4 | c.1228A= (p.Thr410=) | |
| 7 | g.107690202A>C | CA368839268 | SLC26A4 | c.1228A>C (p.Thr410Pro) | |
| 7 | g.107690202A>G | CA368839269 | SLC26A4 | c.1228A>G (p.Thr410Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690202A>T | CA368839270 | SLC26A4 | c.1228A>T (p.Thr410Ser) | |
| 7 | g.107690203C>A | CA368839271 | SLC26A4 | c.1229C>A (p.Thr410Lys) | ClinVar dbSNP |
| 7 | g.107690203C= | CA1732748398 | SLC26A4 | c.1229C= (p.Thr410=) | |
| 7 | g.107690203C>G | CA368839272 | SLC26A4 | c.1229C>G (p.Thr410Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690203C>T | CA261403 | SLC26A4 | c.1229C>T (p.Thr410Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.107690204G>A | CA4432724 | SLC26A4 | c.1230G>A (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690204G>C | CA4432723 | SLC26A4 | c.1230G>C (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690204G= | CA1732748409 | SLC26A4 | c.1230G= (p.Thr410=) | |
| 7 | g.107690204G>T | CA4432725 | SLC26A4 | c.1230G>T (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690205G>A | CA368839273 | SLC26A4 | c.1231G>A (p.Ala411Thr) | ClinVar |
| 7 | g.107690205G>C | CA368839274 | SLC26A4 | c.1231G>C (p.Ala411Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690205G= | CA1732748420 | SLC26A4 | c.1231G= (p.Ala411=) | |
| 7 | g.107690205G>T | CA368839275 | SLC26A4 | c.1231G>T (p.Ala411Ser) | dbSNP |
| 7 | g.107690206C>A | CA368839276 | SLC26A4 | c.1232C>A (p.Ala411Asp) | |
| 7 | g.107690206C>G | CA368839277 | SLC26A4 | c.1232C>G (p.Ala411Gly) | |
| 7 | g.107690206C>T | CA368839278 | SLC26A4 | c.1232C>T (p.Ala411Val) | |
| 7 | g.107690207C>A | CA4432727 | SLC26A4 | c.1233C>A (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690207C= | CA1732748431 | SLC26A4 | c.1233C= (p.Ala411=) | |
| 7 | g.107690207C>G | CA457090870 | SLC26A4 | c.1233C>G (p.Ala411=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690207C>T | CA4432726 | SLC26A4 | c.1233C>T (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690208G>A | CA132658 | SLC26A4 | c.1234G>A (p.Val412Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690208G>C | CA368839279 | SLC26A4 | c.1234G>C (p.Val412Leu) | |
| 7 | g.107690208G= | CA1732748439 | SLC26A4 | c.1234G= (p.Val412=) | |
| 7 | g.107690208G>T | CA368839280 | SLC26A4 | c.1234G>T (p.Val412Phe) | ClinVar dbSNP |
| 7 | g.107690209T>A | CA368839282 | SLC26A4 | c.1235T>A (p.Val412Asp) | |
| 7 | g.107690209T>C | CA368839283 | SLC26A4 | c.1235T>C (p.Val412Ala) | |
| 7 | g.107690209T>G | CA368839281 | SLC26A4 | c.1235T>G (p.Val412Gly) | |
| 7 | g.107690210C>A | CA457090889 | SLC26A4 | c.1236C>A (p.Val412=) | gnomAD v4 |
| 7 | g.107690210C>G | CA457090891 | SLC26A4 | c.1236C>G (p.Val412=) | |
| 7 | g.107690210C>T | CA457090892 | SLC26A4 | c.1236C>T (p.Val412=) | |
| 7 | g.107690211del | CA2684466523 | SLC26A4 | c.1237del (p.Gln413ArgfsTer19) c.1237del (p.Gln413ArgfsTer30) c.1237del (p.Gln413ArgfsTer16) | gnomAD v4 |
| 7 | g.107690211C>A | CA368839284 | SLC26A4 | c.1237C>A (p.Gln413Lys) | |
| 7 | g.107690211C>G | CA368839285 | SLC26A4 | c.1237C>G (p.Gln413Glu) | |
| 7 | g.107690211C>T | CA368839286 | SLC26A4 | c.1237C>T (p.Gln413Ter) | ClinVar |
| 7 | g.107690211_107690212delinsCA | CA1732748441 | SLC26A4 | c.1237_1238delinsCA (p.Gln413=) | |
| 7 | g.107690212del | CA16041108 | SLC26A4 | c.1238del (p.Gln413ArgfsTer19) c.1238del (p.Gln413ArgfsTer30) c.1238del (p.Gln413ArgfsTer16) | ClinVar dbSNP |
| 7 | g.107690212A= | CA1732748448 | SLC26A4 | c.1238A= (p.Gln413=) | |
| 7 | g.107690212A>C | CA368839287 | SLC26A4 | c.1238A>C (p.Gln413Pro) | ClinVar |
| 7 | g.107690212A>G | CA4432728 | SLC26A4 | c.1238A>G (p.Gln413Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690212A>T | CA368839288 | SLC26A4 | c.1238A>T (p.Gln413Leu) | ClinVar |
| 7 | g.107690213G>A | CA457090913 | SLC26A4 | c.1239G>A (p.Gln413=) | |
| 7 | g.107690213G>C | CA164211128 | SLC26A4 | c.1239G>C (p.Gln413His) | dbSNP gnomAD v4 |
| 7 | g.107690213G= | CA1732748453 | SLC26A4 | c.1239G= (p.Gln413=) | |
| 7 | g.107690213G>T | CA368839289 | SLC26A4 | c.1239G>T (p.Gln413His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690214G>A | CA368839290 | SLC26A4 | c.1240G>A (p.Glu414Lys) | |
| 7 | g.107690214G>C | CA4432729 | SLC26A4 | c.1240G>C (p.Glu414Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690214G= | CA1732748457 | SLC26A4 | c.1240G= (p.Glu414=) | |
| 7 | g.107690214G>T | CA368839291 | SLC26A4 | c.1240G>T (p.Glu414Ter) | |
| 7 | g.107690214_107690217delinsAAAG | CA2695203124 | SLC26A4 | c.1240_1243delinsAAAG (p.Glu414_Ser415delinsLysGly) | |
| 7 | g.107690215A>C | CA368839294 | SLC26A4 | c.1241A>C (p.Glu414Ala) | COSMIC |
| 7 | g.107690215A>G | CA368839292 | SLC26A4 | c.1241A>G (p.Glu414Gly) | |
| 7 | g.107690215A>T | CA368839293 | SLC26A4 | c.1241A>T (p.Glu414Val) | |
| 7 | g.107690216G>A | CA457090931 | SLC26A4 | c.1242G>A (p.Glu414=) | |
| 7 | g.107690216G>C | CA368839295 | SLC26A4 | c.1242G>C (p.Glu414Asp) | |
| 7 | g.107690216G>T | CA368839296 | SLC26A4 | c.1242G>T (p.Glu414Asp) | |
| 7 | g.107690217A= | CA1732748461 | SLC26A4 | c.1243A= (p.Ser415=) | |
| 7 | g.107690217A>C | CA368839297 | SLC26A4 | c.1243A>C (p.Ser415Arg) | |
| 7 | g.107690217A>G | CA4432730 | SLC26A4 | c.1243A>G (p.Ser415Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690217A>T | CA368839298 | SLC26A4 | c.1243A>T (p.Ser415Cys) | |
| 7 | g.107690218G>A | CA368839299 | SLC26A4 | c.1244G>A (p.Ser415Asn) | gnomAD v4 |
| 7 | g.107690218G>C | CA368839300 | SLC26A4 | c.1244G>C (p.Ser415Thr) | |
| 7 | g.107690218G>T | CA368839301 | SLC26A4 | c.1244G>T (p.Ser415Ile) | ClinVar |
| 7 | g.107690219C>A | CA368839302 | SLC26A4 | c.1245C>A (p.Ser415Arg) | gnomAD v4 |
| 7 | g.107690219C>G | CA368839303 | SLC26A4 | c.1245C>G (p.Ser415Arg) | gnomAD v4 |
| 7 | g.107690219C>T | CA457090948 | SLC26A4 | c.1245C>T (p.Ser415=) | gnomAD v4 |
| 7 | g.107690220_107694417dup | CA2832529107 | SLC26A4 | c.1246_1278dup c.1246_1264-204dup | |
| 7 | g.107690220A= | CA1732748465 | SLC26A4 | c.1246A= (p.Thr416=) | |
| 7 | g.107690220A>C | CA261404 | SLC26A4 | c.1246A>C (p.Thr416Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690220A>G | CA368839304 | SLC26A4 | c.1246A>G (p.Thr416Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690220A>T | CA368839305 | SLC26A4 | c.1246A>T (p.Thr416Ser) | |
| 7 | g.107690220_107690234dup | CA2832443912 | SLC26A4 | c.1246_1260dup (p.Thr420_Gln421insThrGlyGlyLysThr) | |
| 7 | g.107690221C>A | CA368839307 | SLC26A4 | c.1247C>A (p.Thr416Asn) | gnomAD v4 |
| 7 | g.107690221C>G | CA368839308 | SLC26A4 | c.1247C>G (p.Thr416Ser) | |
| 7 | g.107690221C>T | CA368839306 | SLC26A4 | c.1247C>T (p.Thr416Ile) | |
| 7 | g.107690222T>A | CA457090973 | SLC26A4 | c.1248T>A (p.Thr416=) | |
| 7 | g.107690222T>C | CA457090978 | SLC26A4 | c.1248T>C (p.Thr416=) | |
| 7 | g.107690222T>G | CA457090975 | SLC26A4 | c.1248T>G (p.Thr416=) | |
| 7 | g.107690223G>A | CA368839310 | SLC26A4 | c.1249G>A (p.Gly417Arg) | |
| 7 | g.107690223G>C | CA368839309 | SLC26A4 | c.1249G>C (p.Gly417Arg) | |
| 7 | g.107690223G>T | CA368839311 | SLC26A4 | c.1249G>T (p.Gly417Ter) | |
| 7 | g.107690224G>A | CA368839312 | SLC26A4 | c.1250G>A (p.Gly417Glu) | |
| 7 | g.107690224G>C | CA368839314 | SLC26A4 | c.1250G>C (p.Gly417Ala) | dbSNP |
| 7 | g.107690224G= | CA1732748469 | SLC26A4 | c.1250G= (p.Gly417=) | |
| 7 | g.107690224G>T | CA368839313 | SLC26A4 | c.1250G>T (p.Gly417Val) | |
| 7 | g.107690225A>C | CA457090999 | SLC26A4 | c.1251A>C (p.Gly417=) | gnomAD v4 |
| 7 | g.107690225A>G | CA457091001 | SLC26A4 | c.1251A>G (p.Gly417=) | gnomAD v4 |
| 7 | g.107690225A>T | CA457091003 | SLC26A4 | c.1251A>T (p.Gly417=) | |
| 7 | g.107690226G>A | CA368839315 | SLC26A4 | c.1252G>A (p.Gly418Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690226G>C | CA368839316 | SLC26A4 | c.1252G>C (p.Gly418Arg) | gnomAD v4 |
| 7 | g.107690226G= | CA1732748472 | SLC26A4 | c.1252G= (p.Gly418=) | |
| 7 | g.107690226G>T | CA368839317 | SLC26A4 | c.1252G>T (p.Gly418Ter) | ClinVar |
| 7 | g.107690227G>A | CA185011 | SLC26A4 | c.1253G>A (p.Gly418Glu) | ClinVar dbSNP |
| 7 | g.107690227G>C | CA368839318 | SLC26A4 | c.1253G>C (p.Gly418Ala) | gnomAD v4 |
| 7 | g.107690227G= | CA1732748477 | SLC26A4 | c.1253G= (p.Gly418=) | |
| 7 | g.107690227G>T | CA368839319 | SLC26A4 | c.1253G>T (p.Gly418Val) | |
| 7 | g.107690228A>C | CA457091015 | SLC26A4 | c.1254A>C (p.Gly418=) | |
| 7 | g.107690228A>G | CA457091018 | SLC26A4 | c.1254A>G (p.Gly418=) | |
| 7 | g.107690228A>T | CA457091021 | SLC26A4 | c.1254A>T (p.Gly418=) | |
| 7 | g.107690229A>C | CA368839320 | SLC26A4 | c.1255A>C (p.Lys419Gln) | |
| 7 | g.107690229A>G | CA368839321 | SLC26A4 | c.1255A>G (p.Lys419Glu) | |
| 7 | g.107690229A>T | CA368839322 | SLC26A4 | c.1255A>T (p.Lys419Ter) | |
| 7 | g.107690230A>C | CA368839323 | SLC26A4 | c.1256A>C (p.Lys419Thr) | |
| 7 | g.107690230A>G | CA368839324 | SLC26A4 | c.1256A>G (p.Lys419Arg) | |
| 7 | g.107690230A>T | CA368839325 | SLC26A4 | c.1256A>T (p.Lys419Met) | |
| 7 | g.107690231G>A | CA4432731 | SLC26A4 | c.1257G>A (p.Lys419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690231G>C | CA368839326 | SLC26A4 | c.1257G>C (p.Lys419Asn) | |
| 7 | g.107690231G= | CA1732748482 | SLC26A4 | c.1257G= (p.Lys419=) | |
| 7 | g.107690231G>T | CA368839327 | SLC26A4 | c.1257G>T (p.Lys419Asn) | |
| 7 | g.107690232A>C | CA368839328 | SLC26A4 | c.1258A>C (p.Thr420Pro) | |
| 7 | g.107690232A>G | CA368839329 | SLC26A4 | c.1258A>G (p.Thr420Ala) | gnomAD v4 |
| 7 | g.107690232A>T | CA368839330 | SLC26A4 | c.1258A>T (p.Thr420Ser) | |
| 7 | g.107690233C>A | CA368839331 | SLC26A4 | c.1259C>A (p.Thr420Lys) | gnomAD v4 |
| 7 | g.107690233C>G | CA368839332 | SLC26A4 | c.1259C>G (p.Thr420Arg) | |
| 7 | g.107690233C>T | CA368839333 | SLC26A4 | c.1259C>T (p.Thr420Ile) | ClinVar gnomAD v4 |
| 7 | g.107690234A= | CA1732748493 | SLC26A4 | c.1260A= (p.Thr420=) | |
| 7 | g.107690234A>C | CA457091056 | SLC26A4 | c.1260A>C (p.Thr420=) | |
| 7 | g.107690234A>G | CA4432732 | SLC26A4 | c.1260A>G (p.Thr420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107690234A>T | CA457091061 | SLC26A4 | c.1260A>T (p.Thr420=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107690235C>A | CA368839334 | SLC26A4 | c.1261C>A (p.Gln421Lys) | gnomAD v4 |
| 7 | g.107690235C= | CA1732748497 | SLC26A4 | c.1261C= (p.Gln421=) | |
| 7 | g.107690235C>G | CA4432733 | SLC26A4 | c.1261C>G (p.Gln421Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690235C>T | CA368839335 | SLC26A4 | c.1261C>T (p.Gln421Ter) | ClinVar |
| 7 | g.107690236A= | CA1732748502 | SLC26A4 | c.1262A= (p.Gln421=) | |
| 7 | g.107690236A>C | CA368839337 | SLC26A4 | c.1262A>C (p.Gln421Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690236A>G | CA4432734 | SLC26A4 | c.1262A>G (p.Gln421Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690236A>T | CA368839336 | SLC26A4 | c.1262A>T (p.Gln421Leu) | ClinVar dbSNP |
| 7 | g.107690237G>A | CA457091085 | SLC26A4 | c.1263G>A (p.Gln421=) | gnomAD v4 |
| 7 | g.107690237G>C | CA368839338 | SLC26A4 | c.1263G>C (p.Gln421His) | |
| 7 | g.107690237G>T | CA368839339 | SLC26A4 | c.1263G>T (p.Gln421His) | |
| 7 | g.107690238G>A | CA16041109 | SLC26A4 | c.1263+1G>A (n.1263+1G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107690238G>C | CA368839340 | SLC26A4 | c.1263+1G>C (n.1263+1G>C) | |
| 7 | g.107690238G= | CA1732748510 | SLC26A4 | c.1263+1G= (n.1263+1G=) | |
| 7 | g.107690238G>T | CA16041110 | SLC26A4 | c.1263+1G>T (n.1263+1G>T) | ClinVar dbSNP |
| 7 | g.107690238_107690239insAGT | CA457091098 | SLC26A4 | c.1263+1_1263+2insAGT (n.1263+1_1263+2insAGT) | |
| 7 | g.107690239T>A | CA368839341 | SLC26A4 | c.1263+2T>A (n.1263+2T>A) | |
| 7 | g.107690239T>C | CA368839342 | SLC26A4 | c.1263+2T>C (n.1263+2T>C) | gnomAD v4 |
| 7 | g.107690239T>G | CA368839343 | SLC26A4 | c.1263+2T>G (n.1263+2T>G) | |
| 7 | g.107690240A= | CA1732748518 | SLC26A4 | c.1263+3A= (n.1263+3A=) | |
| 7 | g.107690240A>G | CA4432735 | SLC26A4 | c.1263+3A>G (n.1263+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107690241G>A | CA2684466524 | SLC26A4 | c.1263+4G>A (n.1263+4G>A) | gnomAD v4 |
| 7 | g.107690242G>A | CA2684466525 | SLC26A4 | c.1263+5G>A (n.1263+5G>A) | gnomAD v4 |
| 7 | g.107690242G>T | CA2684466526 | SLC26A4 | c.1263+5G>T (n.1263+5G>T) | gnomAD v4 |
| 7 | g.107690243A>G | CA2684466528 | SLC26A4 | c.1263+6A>G (n.1263+6A>G) | gnomAD v4 |
| 7 | g.107690247_107690249del | CA2684466527 | SLC26A4 | c.1263+10_1263+12del (n.1263+10_1263+12del) | gnomAD v4 |
| 7 | g.107690244A>G | CA2684466529 | SLC26A4 | c.1263+7A>G (n.1263+7A>G) | gnomAD v4 |
| 7 | g.107690245C>A | CA1105638793 | SLC26A4 | c.1263+8C>A (n.1263+8C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107690245C= | CA1732748521 | SLC26A4 | c.1263+8C= (n.1263+8C=) | |
| 7 | g.107690245C>T | CA2684466530 | SLC26A4 | c.1263+8C>T (n.1263+8C>T) | gnomAD v4 |