OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980679A= | CA1590738477 | SLC26A2 | c.1086A= (p.Gly362=) c.372+2328A= (n.372+2328A=) | |
| 5 | g.149980679A>C | CA447402316 | SLC26A2 | c.1086A>C (p.Gly362=) c.372+2328A>C (n.372+2328A>C) | |
| 5 | g.149980679A>G | CA447402317 | SLC26A2 | c.1086A>G (p.Gly362=) c.372+2328A>G (n.372+2328A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980679A>T | CA447402318 | SLC26A2 | c.1086A>T (p.Gly362=) c.372+2328A>T (n.372+2328A>T) | |
| 5 | g.149980680_149980683dup | CA2675943644 | SLC26A2 | c.1087_1090dup (p.Ile364ThrfsTer19) c.372+2329_372+2332dup (n.372+2329_372+2332dup) | gnomAD v4 |
| 5 | g.149980680C>A | CA361707120 | SLC26A2 | c.1087C>A (p.His363Asn) c.372+2329C>A (n.372+2329C>A) | |
| 5 | g.149980680C= | CA1590738478 | SLC26A2 | c.1087C= (p.His363=) c.372+2329C= (n.372+2329C=) | |
| 5 | g.149980680C>G | CA361707122 | SLC26A2 | c.1087C>G (p.His363Asp) c.372+2329C>G (n.372+2329C>G) | |
| 5 | g.149980680C>T | CA361707121 | SLC26A2 | c.1087C>T (p.His363Tyr) c.372+2329C>T (n.372+2329C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980681A>C | CA361707123 | SLC26A2 | c.1088A>C (p.His363Pro) c.372+2330A>C (n.372+2330A>C) | |
| 5 | g.149980681A>G | CA361707124 | SLC26A2 | c.1088A>G (p.His363Arg) c.372+2330A>G (n.372+2330A>G) | gnomAD v4 |
| 5 | g.149980681A>T | CA361707125 | SLC26A2 | c.1088A>T (p.His363Leu) c.372+2330A>T (n.372+2330A>T) | |
| 5 | g.149980682T>A | CA361707126 | SLC26A2 | c.1089T>A (p.His363Gln) c.372+2331T>A (n.372+2331T>A) | |
| 5 | g.149980682T>C | CA447402322 | SLC26A2 | c.1089T>C (p.His363=) c.372+2331T>C (n.372+2331T>C) | |
| 5 | g.149980682T>G | CA361707127 | SLC26A2 | c.1089T>G (p.His363Gln) c.372+2331T>G (n.372+2331T>G) | |
| 5 | g.149980683A>C | CA361707129 | SLC26A2 | c.1090A>C (p.Ile364Leu) c.372+2332A>C (n.372+2332A>C) | |
| 5 | g.149980683A>G | CA361707130 | SLC26A2 | c.1090A>G (p.Ile364Val) c.372+2332A>G (n.372+2332A>G) | |
| 5 | g.149980683A>T | CA361707128 | SLC26A2 | c.1090A>T (p.Ile364Phe) c.372+2332A>T (n.372+2332A>T) | |
| 5 | g.149980684T>A | CA361707131 | SLC26A2 | c.1091T>A (p.Ile364Asn) c.372+2333T>A (n.372+2333T>A) | |
| 5 | g.149980684T>C | CA361707133 | SLC26A2 | c.1091T>C (p.Ile364Thr) c.372+2333T>C (n.372+2333T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980684T>G | CA361707132 | SLC26A2 | c.1091T>G (p.Ile364Ser) c.372+2333T>G (n.372+2333T>G) | |
| 5 | g.149980684T= | CA1590738479 | SLC26A2 | c.1091T= (p.Ile364=) c.372+2333T= (n.372+2333T=) | |
| 5 | g.149980685T>A | CA447402327 | SLC26A2 | c.1092T>A (p.Ile364=) c.372+2334T>A (n.372+2334T>A) | |
| 5 | g.149980685T>C | CA447402328 | SLC26A2 | c.1092T>C (p.Ile364=) c.372+2334T>C (n.372+2334T>C) | |
| 5 | g.149980685T>G | CA361707134 | SLC26A2 | c.1092T>G (p.Ile364Met) c.372+2334T>G (n.372+2334T>G) | |
| 5 | g.149980686C>A | CA361707135 | SLC26A2 | c.1093C>A (p.Pro365Thr) c.372+2335C>A (n.372+2335C>A) | |
| 5 | g.149980686C= | CA1590738480 | SLC26A2 | c.1093C= (p.Pro365=) c.372+2335C= (n.372+2335C=) | |
| 5 | g.149980686C>G | CA361707136 | SLC26A2 | c.1093C>G (p.Pro365Ala) c.372+2335C>G (n.372+2335C>G) | |
| 5 | g.149980686C>T | CA361707137 | SLC26A2 | c.1093C>T (p.Pro365Ser) c.372+2335C>T (n.372+2335C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980687C>A | CA361707138 | SLC26A2 | c.1094C>A (p.Pro365His) c.372+2336C>A (n.372+2336C>A) | |
| 5 | g.149980687C>G | CA361707139 | SLC26A2 | c.1094C>G (p.Pro365Arg) c.372+2336C>G (n.372+2336C>G) | |
| 5 | g.149980687C>T | CA361707140 | SLC26A2 | c.1094C>T (p.Pro365Leu) c.372+2336C>T (n.372+2336C>T) | gnomAD v4 COSMIC |
| 5 | g.149980688C>A | CA447402330 | SLC26A2 | c.1095C>A (p.Pro365=) c.372+2337C>A (n.372+2337C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980688C= | CA1590738481 | SLC26A2 | c.1095C= (p.Pro365=) c.372+2337C= (n.372+2337C=) | |
| 5 | g.149980688C>G | CA447402331 | SLC26A2 | c.1095C>G (p.Pro365=) c.372+2337C>G (n.372+2337C>G) | |
| 5 | g.149980688C>T | CA447402333 | SLC26A2 | c.1095C>T (p.Pro365=) c.372+2337C>T (n.372+2337C>T) | dbSNP |
| 5 | g.149980689A= | CA1590738482 | SLC26A2 | c.1096A= (p.Thr366=) c.372+2338A= (n.372+2338A=) | |
| 5 | g.149980689A>C | CA129084136 | SLC26A2 | c.1096A>C (p.Thr366Pro) c.372+2338A>C (n.372+2338A>C) | dbSNP gnomAD v2 |
| 5 | g.149980689A>G | CA361707142 | SLC26A2 | c.1096A>G (p.Thr366Ala) c.372+2338A>G (n.372+2338A>G) | |
| 5 | g.149980689A>T | CA361707141 | SLC26A2 | c.1096A>T (p.Thr366Ser) c.372+2338A>T (n.372+2338A>T) | |
| 5 | g.149980690C>A | CA361707143 | SLC26A2 | c.1097C>A (p.Thr366Asn) c.372+2339C>A (n.372+2339C>A) | |
| 5 | g.149980690C>G | CA361707144 | SLC26A2 | c.1097C>G (p.Thr366Ser) c.372+2339C>G (n.372+2339C>G) | |
| 5 | g.149980690C>T | CA361707145 | SLC26A2 | c.1097C>T (p.Thr366Ile) c.372+2339C>T (n.372+2339C>T) | |
| 5 | g.149980691T>A | CA447402339 | SLC26A2 | c.1098T>A (p.Thr366=) c.372+2340T>A (n.372+2340T>A) | |
| 5 | g.149980691T>C | CA129084140 | SLC26A2 | c.1098T>C (p.Thr366=) c.372+2340T>C (n.372+2340T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980691T>G | CA447402337 | SLC26A2 | c.1098T>G (p.Thr366=) c.372+2340T>G (n.372+2340T>G) | |
| 5 | g.149980691T= | CA1590738483 | SLC26A2 | c.1098T= (p.Thr366=) c.372+2340T= (n.372+2340T=) | |
| 5 | g.149980692G>A | CA361707146 | SLC26A2 | c.1099G>A (p.Gly367Arg) c.372+2341G>A (n.372+2341G>A) | |
| 5 | g.149980692G>C | CA361707148 | SLC26A2 | c.1099G>C (p.Gly367Arg) c.372+2341G>C (n.372+2341G>C) | |
| 5 | g.149980692G>T | CA361707147 | SLC26A2 | c.1099G>T (p.Gly367Trp) c.372+2341G>T (n.372+2341G>T) | |
| 5 | g.149980693G>A | CA361707149 | SLC26A2 | c.1100G>A (p.Gly367Glu) c.372+2342G>A (n.372+2342G>A) | |
| 5 | g.149980693G>C | CA361707150 | SLC26A2 | c.1100G>C (p.Gly367Ala) c.372+2342G>C (n.372+2342G>C) | |
| 5 | g.149980693G>T | CA361707151 | SLC26A2 | c.1100G>T (p.Gly367Val) c.372+2342G>T (n.372+2342G>T) | |
| 5 | g.149980694G>A | CA447402341 | SLC26A2 | c.1101G>A (p.Gly367=) c.372+2343G>A (n.372+2343G>A) | ClinVar dbSNP |
| 5 | g.149980694G>C | CA447402343 | SLC26A2 | c.1101G>C (p.Gly367=) c.372+2343G>C (n.372+2343G>C) | |
| 5 | g.149980694G= | CA1590738484 | SLC26A2 | c.1101G= (p.Gly367=) c.372+2343G= (n.372+2343G=) | |
| 5 | g.149980694G>T | CA447402344 | SLC26A2 | c.1101G>T (p.Gly367=) c.372+2343G>T (n.372+2343G>T) | |
| 5 | g.149980695T>A | CA361707152 | SLC26A2 | c.1102T>A (p.Phe368Ile) c.372+2344T>A (n.372+2344T>A) | |
| 5 | g.149980695T>C | CA361707153 | SLC26A2 | c.1102T>C (p.Phe368Leu) c.372+2344T>C (n.372+2344T>C) | |
| 5 | g.149980695T>G | CA361707154 | SLC26A2 | c.1102T>G (p.Phe368Val) c.372+2344T>G (n.372+2344T>G) | |
| 5 | g.149980696T>A | CA361707155 | SLC26A2 | c.1103T>A (p.Phe368Tyr) c.372+2345T>A (n.372+2345T>A) | |
| 5 | g.149980696T>C | CA361707156 | SLC26A2 | c.1103T>C (p.Phe368Ser) c.372+2345T>C (n.372+2345T>C) | |
| 5 | g.149980696T>G | CA361707157 | SLC26A2 | c.1103T>G (p.Phe368Cys) c.372+2345T>G (n.372+2345T>G) | |
| 5 | g.149980697T>A | CA361707158 | SLC26A2 | c.1104T>A (p.Phe368Leu) c.372+2346T>A (n.372+2346T>A) | |
| 5 | g.149980697T>C | CA447402346 | SLC26A2 | c.1104T>C (p.Phe368=) c.372+2346T>C (n.372+2346T>C) | |
| 5 | g.149980697T>G | CA361707159 | SLC26A2 | c.1104T>G (p.Phe368Leu) c.372+2346T>G (n.372+2346T>G) | |
| 5 | g.149980698A>C | CA361707160 | SLC26A2 | c.1105A>C (p.Met369Leu) c.372+2347A>C (n.372+2347A>C) | |
| 5 | g.149980698A>G | CA361707162 | SLC26A2 | c.1105A>G (p.Met369Val) c.372+2347A>G (n.372+2347A>G) | gnomAD v4 |
| 5 | g.149980698A>T | CA361707161 | SLC26A2 | c.1105A>T (p.Met369Leu) c.372+2347A>T (n.372+2347A>T) | |
| 5 | g.149980699T>A | CA361707163 | SLC26A2 | c.1106T>A (p.Met369Lys) c.372+2348T>A (n.372+2348T>A) | |
| 5 | g.149980699T>C | CA361707164 | SLC26A2 | c.1106T>C (p.Met369Thr) c.372+2348T>C (n.372+2348T>C) | |
| 5 | g.149980699T>G | CA361707165 | SLC26A2 | c.1106T>G (p.Met369Arg) c.372+2348T>G (n.372+2348T>G) | |
| 5 | g.149980700G>A | CA361707166 | SLC26A2 | c.1107G>A (p.Met369Ile) c.372+2349G>A (n.372+2349G>A) | |
| 5 | g.149980700G>C | CA361707167 | SLC26A2 | c.1107G>C (p.Met369Ile) c.372+2349G>C (n.372+2349G>C) | |
| 5 | g.149980700G>T | CA361707168 | SLC26A2 | c.1107G>T (p.Met369Ile) c.372+2349G>T (n.372+2349G>T) | |
| 5 | g.149980701C>A | CA361707169 | SLC26A2 | c.1108C>A (p.Pro370Thr) c.372+2350C>A (n.372+2350C>A) | dbSNP gnomAD v4 |
| 5 | g.149980701C= | CA1590738485 | SLC26A2 | c.1108C= (p.Pro370=) c.372+2350C= (n.372+2350C=) | |
| 5 | g.149980701C>G | CA361707170 | SLC26A2 | c.1108C>G (p.Pro370Ala) c.372+2350C>G (n.372+2350C>G) | |
| 5 | g.149980701C>T | CA129084144 | SLC26A2 | c.1108C>T (p.Pro370Ser) c.372+2350C>T (n.372+2350C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149980702C>A | CA361707171 | SLC26A2 | c.1109C>A (p.Pro370Gln) c.372+2351C>A (n.372+2351C>A) | |
| 5 | g.149980702C>G | CA361707172 | SLC26A2 | c.1109C>G (p.Pro370Arg) c.372+2351C>G (n.372+2351C>G) | |
| 5 | g.149980702C>T | CA361707173 | SLC26A2 | c.1109C>T (p.Pro370Leu) c.372+2351C>T (n.372+2351C>T) | |
| 5 | g.149980703A>C | CA447402351 | SLC26A2 | c.1110A>C (p.Pro370=) c.372+2352A>C (n.372+2352A>C) | |
| 5 | g.149980703A>G | CA447402352 | SLC26A2 | c.1110A>G (p.Pro370=) c.372+2352A>G (n.372+2352A>G) | |
| 5 | g.149980703A>T | CA447402353 | SLC26A2 | c.1110A>T (p.Pro370=) c.372+2352A>T (n.372+2352A>T) | |
| 5 | g.149980703_149980704delinsAC | CA1590738486 | SLC26A2 | c.1110_1111delinsAC (p.Pro370=) c.372+2352_372+2353delinsAC (n.372+2352_372+2353delinsAC) | |
| 5 | g.149980704C>A | CA361707175 | SLC26A2 | c.1111C>A (p.Pro371Thr) c.372+2353C>A (n.372+2353C>A) | |
| 5 | g.149980704C= | CA1590738487 | SLC26A2 | c.1111C= (p.Pro371=) c.372+2353C= (n.372+2353C=) | |
| 5 | g.149980704C>G | CA361707174 | SLC26A2 | c.1111C>G (p.Pro371Ala) c.372+2353C>G (n.372+2353C>G) | |
| 5 | g.149980704C>T | CA3505384 | SLC26A2 | c.1111C>T (p.Pro371Ser) c.372+2353C>T (n.372+2353C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980706del | CA805557780 | SLC26A2 | c.1113del (p.Val373TyrfsTer6) c.372+2355del (n.372+2355del) | dbSNP |
| 5 | g.149980705C>A | CA361707176 | SLC26A2 | c.1112C>A (p.Pro371His) c.372+2354C>A (n.372+2354C>A) | |
| 5 | g.149980705C= | CA1590738488 | SLC26A2 | c.1112C= (p.Pro371=) c.372+2354C= (n.372+2354C=) | |
| 5 | g.149980705C>G | CA361707177 | SLC26A2 | c.1112C>G (p.Pro371Arg) c.372+2354C>G (n.372+2354C>G) | |
| 5 | g.149980705C>T | CA361707178 | SLC26A2 | c.1112C>T (p.Pro371Leu) c.372+2354C>T (n.372+2354C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980706C>A | CA447402355 | SLC26A2 | c.1113C>A (p.Pro371=) c.372+2355C>A (n.372+2355C>A) | gnomAD v4 |
| 5 | g.149980706C>G | CA447402356 | SLC26A2 | c.1113C>G (p.Pro371=) c.372+2355C>G (n.372+2355C>G) | |
| 5 | g.149980706C>T | CA447402357 | SLC26A2 | c.1113C>T (p.Pro371=) c.372+2355C>T (n.372+2355C>T) | |
| 5 | g.149980707A= | CA1590738489 | SLC26A2 | c.1114A= (p.Lys372=) c.372+2356A= (n.372+2356A=) | |
| 5 | g.149980707A>C | CA361707179 | SLC26A2 | c.1114A>C (p.Lys372Gln) c.372+2356A>C (n.372+2356A>C) | |
| 5 | g.149980707A>G | CA361707180 | SLC26A2 | c.1114A>G (p.Lys372Glu) c.372+2356A>G (n.372+2356A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980707A>T | CA361707181 | SLC26A2 | c.1114A>T (p.Lys372Ter) c.372+2356A>T (n.372+2356A>T) | ClinVar dbSNP |
| 5 | g.149980708A= | CA1590738490 | SLC26A2 | c.1115A= (p.Lys372=) c.372+2357A= (n.372+2357A=) | |
| 5 | g.149980708A>C | CA361707182 | SLC26A2 | c.1115A>C (p.Lys372Thr) c.372+2357A>C (n.372+2357A>C) | |
| 5 | g.149980708A>G | CA3505385 | SLC26A2 | c.1115A>G (p.Lys372Arg) c.372+2357A>G (n.372+2357A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980708A>T | CA361707183 | SLC26A2 | c.1115A>T (p.Lys372Ile) c.372+2357A>T (n.372+2357A>T) | |
| 5 | g.149980709A>C | CA361707184 | SLC26A2 | c.1116A>C (p.Lys372Asn) c.372+2358A>C (n.372+2358A>C) | |
| 5 | g.149980709A>G | CA447402359 | SLC26A2 | c.1116A>G (p.Lys372=) c.372+2358A>G (n.372+2358A>G) | |
| 5 | g.149980709A>T | CA361707185 | SLC26A2 | c.1116A>T (p.Lys372Asn) c.372+2358A>T (n.372+2358A>T) | |
| 5 | g.149980710G>A | CA3505386 | SLC26A2 | c.1117G>A (p.Val373Ile) c.372+2359G>A (n.372+2359G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980710G>C | CA361707187 | SLC26A2 | c.1117G>C (p.Val373Leu) c.372+2359G>C (n.372+2359G>C) | |
| 5 | g.149980710G= | CA1590738491 | SLC26A2 | c.1117G= (p.Val373=) c.372+2359G= (n.372+2359G=) | |
| 5 | g.149980710G>T | CA361707186 | SLC26A2 | c.1117G>T (p.Val373Leu) c.372+2359G>T (n.372+2359G>T) | |
| 5 | g.149980711T>A | CA361707190 | SLC26A2 | c.1118T>A (p.Val373Glu) c.372+2360T>A (n.372+2360T>A) | |
| 5 | g.149980711T>C | CA361707188 | SLC26A2 | c.1118T>C (p.Val373Ala) c.372+2360T>C (n.372+2360T>C) | |
| 5 | g.149980711T>G | CA361707189 | SLC26A2 | c.1118T>G (p.Val373Gly) c.372+2360T>G (n.372+2360T>G) | |
| 5 | g.149980712A= | CA1590738492 | SLC26A2 | c.1119A= (p.Val373=) c.372+2361A= (n.372+2361A=) | |
| 5 | g.149980712A>C | CA447402363 | SLC26A2 | c.1119A>C (p.Val373=) c.372+2361A>C (n.372+2361A>C) | |
| 5 | g.149980712A>G | CA447402362 | SLC26A2 | c.1119A>G (p.Val373=) c.372+2361A>G (n.372+2361A>G) | dbSNP |
| 5 | g.149980712A>T | CA447402361 | SLC26A2 | c.1119A>T (p.Val373=) c.372+2361A>T (n.372+2361A>T) | ClinVar dbSNP |
| 5 | g.149980713C>A | CA361707191 | SLC26A2 | c.1120C>A (p.Pro374Thr) c.372+2362C>A (n.372+2362C>A) | |
| 5 | g.149980713C= | CA1590738493 | SLC26A2 | c.1120C= (p.Pro374=) c.372+2362C= (n.372+2362C=) | |
| 5 | g.149980713C>G | CA361707192 | SLC26A2 | c.1120C>G (p.Pro374Ala) c.372+2362C>G (n.372+2362C>G) | |
| 5 | g.149980713C>T | CA3505387 | SLC26A2 | c.1120C>T (p.Pro374Ser) c.372+2362C>T (n.372+2362C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980714del | CA2571579843 | SLC26A2 | c.1121del (p.Pro374GlnfsTer5) c.372+2363del (n.372+2363del) | |
| 5 | g.149980714C>A | CA361707193 | SLC26A2 | c.1121C>A (p.Pro374Gln) c.372+2363C>A (n.372+2363C>A) | |
| 5 | g.149980714C>G | CA361707194 | SLC26A2 | c.1121C>G (p.Pro374Arg) c.372+2363C>G (n.372+2363C>G) | |
| 5 | g.149980714C>T | CA361707195 | SLC26A2 | c.1121C>T (p.Pro374Leu) c.372+2363C>T (n.372+2363C>T) | |
| 5 | g.149980715A>C | CA447402365 | SLC26A2 | c.1122A>C (p.Pro374=) c.372+2364A>C (n.372+2364A>C) | |
| 5 | g.149980715A>G | CA447402366 | SLC26A2 | c.1122A>G (p.Pro374=) c.372+2364A>G (n.372+2364A>G) | |
| 5 | g.149980715A>T | CA447402367 | SLC26A2 | c.1122A>T (p.Pro374=) c.372+2364A>T (n.372+2364A>T) | |
| 5 | g.149980716G>A | CA361707196 | SLC26A2 | c.1123G>A (p.Glu375Lys) c.372+2365G>A (n.372+2365G>A) | |
| 5 | g.149980716G>C | CA361707197 | SLC26A2 | c.1123G>C (p.Glu375Gln) c.372+2365G>C (n.372+2365G>C) | |
| 5 | g.149980716G>T | CA361707198 | SLC26A2 | c.1123G>T (p.Glu375Ter) c.372+2365G>T (n.372+2365G>T) | |
| 5 | g.149980717A>C | CA361707199 | SLC26A2 | c.1124A>C (p.Glu375Ala) c.372+2366A>C (n.372+2366A>C) | |
| 5 | g.149980717A>G | CA361707200 | SLC26A2 | c.1124A>G (p.Glu375Gly) c.372+2366A>G (n.372+2366A>G) | |
| 5 | g.149980717A>T | CA361707201 | SLC26A2 | c.1124A>T (p.Glu375Val) c.372+2366A>T (n.372+2366A>T) | |
| 5 | g.149980718A>C | CA361707202 | SLC26A2 | c.1125A>C (p.Glu375Asp) c.372+2367A>C (n.372+2367A>C) | |
| 5 | g.149980718A>G | CA447402371 | SLC26A2 | c.1125A>G (p.Glu375=) c.372+2367A>G (n.372+2367A>G) | ClinVar dbSNP |
| 5 | g.149980718A>T | CA361707203 | SLC26A2 | c.1125A>T (p.Glu375Asp) c.372+2367A>T (n.372+2367A>T) | |
| 5 | g.149980719T>A | CA361707204 | SLC26A2 | c.1126T>A (p.Trp376Arg) c.372+2368T>A (n.372+2368T>A) | |
| 5 | g.149980719T>C | CA361707205 | SLC26A2 | c.1126T>C (p.Trp376Arg) c.372+2368T>C (n.372+2368T>C) | |
| 5 | g.149980719T>G | CA361707206 | SLC26A2 | c.1126T>G (p.Trp376Gly) c.372+2368T>G (n.372+2368T>G) | |
| 5 | g.149980720G>A | CA361707207 | SLC26A2 | c.1127G>A (p.Trp376Ter) c.372+2369G>A (n.372+2369G>A) | |
| 5 | g.149980720G>C | CA361707208 | SLC26A2 | c.1127G>C (p.Trp376Ser) c.372+2369G>C (n.372+2369G>C) | |
| 5 | g.149980720G>T | CA361707209 | SLC26A2 | c.1127G>T (p.Trp376Leu) c.372+2369G>T (n.372+2369G>T) | |
| 5 | g.149980721G>A | CA361707210 | SLC26A2 | c.1128G>A (p.Trp376Ter) c.372+2370G>A (n.372+2370G>A) | |
| 5 | g.149980721G>C | CA3505388 | SLC26A2 | c.1128G>C (p.Trp376Cys) c.372+2370G>C (n.372+2370G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980721G= | CA1590738494 | SLC26A2 | c.1128G= (p.Trp376=) c.372+2370G= (n.372+2370G=) | |
| 5 | g.149980721G>T | CA361707211 | SLC26A2 | c.1128G>T (p.Trp376Cys) c.372+2370G>T (n.372+2370G>T) | |
| 5 | g.149980722A>C | CA361707212 | SLC26A2 | c.1129A>C (p.Asn377His) c.372+2371A>C (n.372+2371A>C) | |
| 5 | g.149980722A>G | CA361707213 | SLC26A2 | c.1129A>G (p.Asn377Asp) c.372+2371A>G (n.372+2371A>G) | |
| 5 | g.149980722A>T | CA361707214 | SLC26A2 | c.1129A>T (p.Asn377Tyr) c.372+2371A>T (n.372+2371A>T) | |
| 5 | g.149980723A>C | CA361707217 | SLC26A2 | c.1130A>C (p.Asn377Thr) c.372+2372A>C (n.372+2372A>C) | |
| 5 | g.149980723A>G | CA361707216 | SLC26A2 | c.1130A>G (p.Asn377Ser) c.372+2372A>G (n.372+2372A>G) | |
| 5 | g.149980723A>T | CA361707215 | SLC26A2 | c.1130A>T (p.Asn377Ile) c.372+2372A>T (n.372+2372A>T) | |
| 5 | g.149980724C>A | CA361707218 | SLC26A2 | c.1131C>A (p.Asn377Lys) c.372+2373C>A (n.372+2373C>A) | |
| 5 | g.149980724C>G | CA361707219 | SLC26A2 | c.1131C>G (p.Asn377Lys) c.372+2373C>G (n.372+2373C>G) | |
| 5 | g.149980724C>T | CA447402374 | SLC26A2 | c.1131C>T (p.Asn377=) c.372+2373C>T (n.372+2373C>T) | ClinVar dbSNP |
| 5 | g.149980725C>A | CA361707220 | SLC26A2 | c.1132C>A (p.Leu378Ile) c.372+2374C>A (n.372+2374C>A) | |
| 5 | g.149980725C= | CA1590738495 | SLC26A2 | c.1132C= (p.Leu378=) c.372+2374C= (n.372+2374C=) | |
| 5 | g.149980725C>G | CA361707221 | SLC26A2 | c.1132C>G (p.Leu378Val) c.372+2374C>G (n.372+2374C>G) | dbSNP gnomAD v4 |
| 5 | g.149980725C>T | CA447402376 | SLC26A2 | c.1132C>T (p.Leu378=) c.372+2374C>T (n.372+2374C>T) | |
| 5 | g.149980726T>A | CA361707222 | SLC26A2 | c.1133T>A (p.Leu378Gln) c.372+2375T>A (n.372+2375T>A) | |
| 5 | g.149980726T>C | CA361707223 | SLC26A2 | c.1133T>C (p.Leu378Pro) c.372+2375T>C (n.372+2375T>C) | |
| 5 | g.149980726T>G | CA3505389 | SLC26A2 | c.1133T>G (p.Leu378Arg) c.372+2375T>G (n.372+2375T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980726T= | CA1590738496 | SLC26A2 | c.1133T= (p.Leu378=) c.372+2375T= (n.372+2375T=) | |
| 5 | g.149980727A= | CA1590738497 | SLC26A2 | c.1134A= (p.Leu378=) c.372+2376A= (n.372+2376A=) | |
| 5 | g.149980727A>C | CA3505390 | SLC26A2 | c.1134A>C (p.Leu378=) c.372+2376A>C (n.372+2376A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980727A>G | CA447402377 | SLC26A2 | c.1134A>G (p.Leu378=) c.372+2376A>G (n.372+2376A>G) | |
| 5 | g.149980727A>T | CA447402378 | SLC26A2 | c.1134A>T (p.Leu378=) c.372+2376A>T (n.372+2376A>T) | |
| 5 | g.149980728A= | CA1590738498 | SLC26A2 | c.1135A= (p.Ile379=) c.372+2377A= (n.372+2377A=) | |
| 5 | g.149980728A>C | CA3505391 | SLC26A2 | c.1135A>C (p.Ile379Leu) c.372+2377A>C (n.372+2377A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980728A>G | CA361707224 | SLC26A2 | c.1135A>G (p.Ile379Val) c.372+2377A>G (n.372+2377A>G) | |
| 5 | g.149980728A>T | CA361707225 | SLC26A2 | c.1135A>T (p.Ile379Phe) c.372+2377A>T (n.372+2377A>T) | |
| 5 | g.149980729T>A | CA361707226 | SLC26A2 | c.1136T>A (p.Ile379Asn) c.372+2378T>A (n.372+2378T>A) | |
| 5 | g.149980729T>C | CA361707227 | SLC26A2 | c.1136T>C (p.Ile379Thr) c.372+2378T>C (n.372+2378T>C) | |
| 5 | g.149980729T>G | CA361707228 | SLC26A2 | c.1136T>G (p.Ile379Ser) c.372+2378T>G (n.372+2378T>G) | |
| 5 | g.149980730T>A | CA447402381 | SLC26A2 | c.1137T>A (p.Ile379=) c.372+2379T>A (n.372+2379T>A) | gnomAD v4 |
| 5 | g.149980730T>C | CA447402382 | SLC26A2 | c.1137T>C (p.Ile379=) c.372+2379T>C (n.372+2379T>C) | COSMIC |
| 5 | g.149980730T>G | CA361707229 | SLC26A2 | c.1137T>G (p.Ile379Met) c.372+2379T>G (n.372+2379T>G) | |
| 5 | g.149980731C>A | CA361707230 | SLC26A2 | c.1138C>A (p.Pro380Thr) c.372+2380C>A (n.372+2380C>A) | |
| 5 | g.149980731C>G | CA361707231 | SLC26A2 | c.1138C>G (p.Pro380Ala) c.372+2380C>G (n.372+2380C>G) | |
| 5 | g.149980731C>T | CA361707232 | SLC26A2 | c.1138C>T (p.Pro380Ser) c.372+2380C>T (n.372+2380C>T) | gnomAD v4 COSMIC |
| 5 | g.149980732C>A | CA361707233 | SLC26A2 | c.1139C>A (p.Pro380His) c.372+2381C>A (n.372+2381C>A) | |
| 5 | g.149980732C= | CA1590738499 | SLC26A2 | c.1139C= (p.Pro380=) c.372+2381C= (n.372+2381C=) | |
| 5 | g.149980732C>G | CA361707234 | SLC26A2 | c.1139C>G (p.Pro380Arg) c.372+2381C>G (n.372+2381C>G) | |
| 5 | g.149980732C>T | CA361707235 | SLC26A2 | c.1139C>T (p.Pro380Leu) c.372+2381C>T (n.372+2381C>T) | dbSNP gnomAD v4 |
| 5 | g.149980733T>A | CA447402387 | SLC26A2 | c.1140T>A (p.Pro380=) c.372+2382T>A (n.372+2382T>A) | |
| 5 | g.149980733T>C | CA447402386 | SLC26A2 | c.1140T>C (p.Pro380=) c.372+2382T>C (n.372+2382T>C) | |
| 5 | g.149980733T>G | CA447402385 | SLC26A2 | c.1140T>G (p.Pro380=) c.372+2382T>G (n.372+2382T>G) | |
| 5 | g.149980734A>C | CA361707236 | SLC26A2 | c.1141A>C (p.Ser381Arg) c.372+2383A>C (n.372+2383A>C) | |
| 5 | g.149980734A>G | CA361707237 | SLC26A2 | c.1141A>G (p.Ser381Gly) c.372+2383A>G (n.372+2383A>G) | |
| 5 | g.149980734A>T | CA361707238 | SLC26A2 | c.1141A>T (p.Ser381Cys) c.372+2383A>T (n.372+2383A>T) | |
| 5 | g.149980735G>A | CA361707239 | SLC26A2 | c.1142G>A (p.Ser381Asn) c.372+2384G>A (n.372+2384G>A) | |
| 5 | g.149980735G>C | CA361707240 | SLC26A2 | c.1142G>C (p.Ser381Thr) c.372+2384G>C (n.372+2384G>C) | |
| 5 | g.149980735G>T | CA361707241 | SLC26A2 | c.1142G>T (p.Ser381Ile) c.372+2384G>T (n.372+2384G>T) | |
| 5 | g.149980735dup | CA2695198773 | SLC26A2 | c.1142dup (p.Ser381ArgfsTer22) c.372+2384dup (n.372+2384dup) | ClinVar |
| 5 | g.149980736T>A | CA361707242 | SLC26A2 | c.1143T>A (p.Ser381Arg) c.372+2385T>A (n.372+2385T>A) | |
| 5 | g.149980736T>C | CA447402388 | SLC26A2 | c.1143T>C (p.Ser381=) c.372+2385T>C (n.372+2385T>C) | |
| 5 | g.149980736T>G | CA361707243 | SLC26A2 | c.1143T>G (p.Ser381Arg) c.372+2385T>G (n.372+2385T>G) | |
| 5 | g.149980737G>A | CA361707245 | SLC26A2 | c.1144G>A (p.Val382Met) c.372+2386G>A (n.372+2386G>A) | |
| 5 | g.149980737G>C | CA361707246 | SLC26A2 | c.1144G>C (p.Val382Leu) c.372+2386G>C (n.372+2386G>C) | |
| 5 | g.149980737G>T | CA361707244 | SLC26A2 | c.1144G>T (p.Val382Leu) c.372+2386G>T (n.372+2386G>T) | |
| 5 | g.149980737_149980741delinsGTGGC | CA1590738500 | SLC26A2 | c.1144_1148delinsGTGGC (p.Val382=) c.372+2386_372+2390delinsGTGGC (n.372+2386_372+2390delinsGTGGC) | |
| 5 | g.149980738T>A | CA361707247 | SLC26A2 | c.1145T>A (p.Val382Glu) c.372+2387T>A (n.372+2387T>A) | |
| 5 | g.149980738T>C | CA361707249 | SLC26A2 | c.1145T>C (p.Val382Ala) c.372+2387T>C (n.372+2387T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980738T>G | CA361707248 | SLC26A2 | c.1145T>G (p.Val382Gly) c.372+2387T>G (n.372+2387T>G) | |
| 5 | g.149980738T= | CA1590738501 | SLC26A2 | c.1145T= (p.Val382=) c.372+2387T= (n.372+2387T=) | |
| 5 | g.149980740_149980743del | CA563955704 | SLC26A2 | c.1147_1150del (p.Ala383Ter) c.372+2389_372+2392del (n.372+2389_372+2392del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980739G>A | CA447402389 | SLC26A2 | c.1146G>A (p.Val382=) c.372+2388G>A (n.372+2388G>A) | |
| 5 | g.149980739G>C | CA447402391 | SLC26A2 | c.1146G>C (p.Val382=) c.372+2388G>C (n.372+2388G>C) | |
| 5 | g.149980739G>T | CA447402390 | SLC26A2 | c.1146G>T (p.Val382=) c.372+2388G>T (n.372+2388G>T) | |
| 5 | g.149980740G>A | CA361707250 | SLC26A2 | c.1147G>A (p.Ala383Thr) c.372+2389G>A (n.372+2389G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980740G>C | CA361707252 | SLC26A2 | c.1147G>C (p.Ala383Pro) c.372+2389G>C (n.372+2389G>C) | |
| 5 | g.149980740G= | CA1590738502 | SLC26A2 | c.1147G= (p.Ala383=) c.372+2389G= (n.372+2389G=) | |
| 5 | g.149980740G>T | CA361707251 | SLC26A2 | c.1147G>T (p.Ala383Ser) c.372+2389G>T (n.372+2389G>T) | |
| 5 | g.149980741C>A | CA361707253 | SLC26A2 | c.1148C>A (p.Ala383Asp) c.372+2390C>A (n.372+2390C>A) | |
| 5 | g.149980741C>G | CA361707255 | SLC26A2 | c.1148C>G (p.Ala383Gly) c.372+2390C>G (n.372+2390C>G) | |
| 5 | g.149980741C>T | CA361707254 | SLC26A2 | c.1148C>T (p.Ala383Val) c.372+2390C>T (n.372+2390C>T) | |
| 5 | g.149980742T>A | CA447402392 | SLC26A2 | c.1149T>A (p.Ala383=) c.372+2391T>A (n.372+2391T>A) | |
| 5 | g.149980742T>C | CA447402393 | SLC26A2 | c.1149T>C (p.Ala383=) c.372+2391T>C (n.372+2391T>C) | |
| 5 | g.149980742T>G | CA447402394 | SLC26A2 | c.1149T>G (p.Ala383=) c.372+2391T>G (n.372+2391T>G) | |
| 5 | g.149980743G>A | CA3505392 | SLC26A2 | c.1150G>A (p.Val384Ile) c.372+2392G>A (n.372+2392G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980743G>C | CA361707256 | SLC26A2 | c.1150G>C (p.Val384Leu) c.372+2392G>C (n.372+2392G>C) | ClinVar |
| 5 | g.149980743G= | CA1590738503 | SLC26A2 | c.1150G= (p.Val384=) c.372+2392G= (n.372+2392G=) | |
| 5 | g.149980743G>T | CA361707257 | SLC26A2 | c.1150G>T (p.Val384Leu) c.372+2392G>T (n.372+2392G>T) | gnomAD v4 |
| 5 | g.149980744T>A | CA361707258 | SLC26A2 | c.1151T>A (p.Val384Glu) c.372+2393T>A (n.372+2393T>A) | |
| 5 | g.149980744T>C | CA361707259 | SLC26A2 | c.1151T>C (p.Val384Ala) c.372+2393T>C (n.372+2393T>C) | |
| 5 | g.149980744T>G | CA361707260 | SLC26A2 | c.1151T>G (p.Val384Gly) c.372+2393T>G (n.372+2393T>G) | |
| 5 | g.149980745A>C | CA447402395 | SLC26A2 | c.1152A>C (p.Val384=) c.372+2394A>C (n.372+2394A>C) | |
| 5 | g.149980745A>G | CA447402396 | SLC26A2 | c.1152A>G (p.Val384=) c.372+2394A>G (n.372+2394A>G) | |
| 5 | g.149980745A>T | CA447402397 | SLC26A2 | c.1152A>T (p.Val384=) c.372+2394A>T (n.372+2394A>T) | |
| 5 | g.149980746G>A | CA361707261 | SLC26A2 | c.1153G>A (p.Asp385Asn) c.372+2395G>A (n.372+2395G>A) | ClinVar |
| 5 | g.149980746G>C | CA361707262 | SLC26A2 | c.1153G>C (p.Asp385His) c.372+2395G>C (n.372+2395G>C) | |
| 5 | g.149980746G>T | CA361707263 | SLC26A2 | c.1153G>T (p.Asp385Tyr) c.372+2395G>T (n.372+2395G>T) | |
| 5 | g.149980747A>C | CA361707264 | SLC26A2 | c.1154A>C (p.Asp385Ala) c.372+2396A>C (n.372+2396A>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980747A>G | CA361707265 | SLC26A2 | c.1154A>G (p.Asp385Gly) c.372+2396A>G (n.372+2396A>G) | gnomAD v4 |
| 5 | g.149980747A>T | CA361707266 | SLC26A2 | c.1154A>T (p.Asp385Val) c.372+2396A>T (n.372+2396A>T) | |
| 5 | g.149980748del | CA2573139276 | SLC26A2 | c.1155del (p.Asp385GlufsTer3) c.372+2397del (n.372+2397del) | ClinVar dbSNP |
| 5 | g.149980748T>A | CA361707267 | SLC26A2 | c.1155T>A (p.Asp385Glu) c.372+2397T>A (n.372+2397T>A) | |
| 5 | g.149980748T>C | CA447402398 | SLC26A2 | c.1155T>C (p.Asp385=) c.372+2397T>C (n.372+2397T>C) | |
| 5 | g.149980748T>G | CA361707268 | SLC26A2 | c.1155T>G (p.Asp385Glu) c.372+2397T>G (n.372+2397T>G) | |
| 5 | g.149980749G>A | CA129084189 | SLC26A2 | c.1156G>A (p.Ala386Thr) c.372+2398G>A (n.372+2398G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980749G>C | CA361707269 | SLC26A2 | c.1156G>C (p.Ala386Pro) c.372+2398G>C (n.372+2398G>C) | |
| 5 | g.149980749G= | CA1590738504 | SLC26A2 | c.1156G= (p.Ala386=) c.372+2398G= (n.372+2398G=) | |
| 5 | g.149980749G>T | CA361707270 | SLC26A2 | c.1156G>T (p.Ala386Ser) c.372+2398G>T (n.372+2398G>T) | |
| 5 | g.149980750C>A | CA361707271 | SLC26A2 | c.1157C>A (p.Ala386Glu) c.372+2399C>A (n.372+2399C>A) | |
| 5 | g.149980750C= | CA1590738505 | SLC26A2 | c.1157C= (p.Ala386=) c.372+2399C= (n.372+2399C=) | |
| 5 | g.149980750C>G | CA3505393 | SLC26A2 | c.1157C>G (p.Ala386Gly) c.372+2399C>G (n.372+2399C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980750C>T | CA263247 | SLC26A2 | c.1157C>T (p.Ala386Val) c.372+2399C>T (n.372+2399C>T) | ClinVar dbSNP |
| 5 | g.149980751A>C | CA447402403 | SLC26A2 | c.1158A>C (p.Ala386=) c.372+2400A>C (n.372+2400A>C) | |
| 5 | g.149980751A>G | CA447402404 | SLC26A2 | c.1158A>G (p.Ala386=) c.372+2400A>G (n.372+2400A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980751A>T | CA447402405 | SLC26A2 | c.1158A>T (p.Ala386=) c.372+2400A>T (n.372+2400A>T) | |
| 5 | g.149980752A= | CA1590738506 | SLC26A2 | c.1159A= (p.Ile387=) c.372+2401A= (n.372+2401A=) | |
| 5 | g.149980752A>C | CA361707272 | SLC26A2 | c.1159A>C (p.Ile387Leu) c.372+2401A>C (n.372+2401A>C) | |
| 5 | g.149980752A>G | CA361707273 | SLC26A2 | c.1159A>G (p.Ile387Val) c.372+2401A>G (n.372+2401A>G) | dbSNP gnomAD v4 |
| 5 | g.149980752A>T | CA3505394 | SLC26A2 | c.1159A>T (p.Ile387Leu) c.372+2401A>T (n.372+2401A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980753T>A | CA361707274 | SLC26A2 | c.1160T>A (p.Ile387Lys) c.372+2402T>A (n.372+2402T>A) | |
| 5 | g.149980753T>C | CA361707275 | SLC26A2 | c.1160T>C (p.Ile387Thr) c.372+2402T>C (n.372+2402T>C) | gnomAD v4 |
| 5 | g.149980753T>G | CA361707276 | SLC26A2 | c.1160T>G (p.Ile387Arg) c.372+2402T>G (n.372+2402T>G) | |
| 5 | g.149980754A= | CA1590738507 | SLC26A2 | c.1161A= (p.Ile387=) c.372+2403A= (n.372+2403A=) | |
| 5 | g.149980754A>C | CA447402408 | SLC26A2 | c.1161A>C (p.Ile387=) c.372+2403A>C (n.372+2403A>C) | |
| 5 | g.149980754A>G | CA361707277 | SLC26A2 | c.1161A>G (p.Ile387Met) c.372+2403A>G (n.372+2403A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980754A>T | CA447402409 | SLC26A2 | c.1161A>T (p.Ile387=) c.372+2403A>T (n.372+2403A>T) | |
| 5 | g.149980755G>A | CA361707278 | SLC26A2 | c.1162G>A (p.Ala388Thr) c.372+2404G>A (n.372+2404G>A) | |
| 5 | g.149980755G>C | CA361707280 | SLC26A2 | c.1162G>C (p.Ala388Pro) c.372+2404G>C (n.372+2404G>C) | |
| 5 | g.149980755G>T | CA361707279 | SLC26A2 | c.1162G>T (p.Ala388Ser) c.372+2404G>T (n.372+2404G>T) | COSMIC |
| 5 | g.149980756C>A | CA361707281 | SLC26A2 | c.1163C>A (p.Ala388Asp) c.372+2405C>A (n.372+2405C>A) | |
| 5 | g.149980756C>G | CA361707282 | SLC26A2 | c.1163C>G (p.Ala388Gly) c.372+2405C>G (n.372+2405C>G) | |
| 5 | g.149980756C>T | CA361707283 | SLC26A2 | c.1163C>T (p.Ala388Val) c.372+2405C>T (n.372+2405C>T) | |
| 5 | g.149980757T>A | CA447402413 | SLC26A2 | c.1164T>A (p.Ala388=) c.372+2406T>A (n.372+2406T>A) | |
| 5 | g.149980757T>C | CA447402414 | SLC26A2 | c.1164T>C (p.Ala388=) c.372+2406T>C (n.372+2406T>C) | gnomAD v4 |
| 5 | g.149980757T>G | CA447402415 | SLC26A2 | c.1164T>G (p.Ala388=) c.372+2406T>G (n.372+2406T>G) | |
| 5 | g.149980758A= | CA1590738508 | SLC26A2 | c.1165A= (p.Ile389=) c.372+2407A= (n.372+2407A=) | |
| 5 | g.149980758A>C | CA361707284 | SLC26A2 | c.1165A>C (p.Ile389Leu) c.372+2407A>C (n.372+2407A>C) | |
| 5 | g.149980758A>G | CA3505395 | SLC26A2 | c.1165A>G (p.Ile389Val) c.372+2407A>G (n.372+2407A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980758A>T | CA361707285 | SLC26A2 | c.1165A>T (p.Ile389Phe) c.372+2407A>T (n.372+2407A>T) | |
| 5 | g.149980759T>A | CA361707286 | SLC26A2 | c.1166T>A (p.Ile389Asn) c.372+2408T>A (n.372+2408T>A) | |
| 5 | g.149980759T>C | CA361707287 | SLC26A2 | c.1166T>C (p.Ile389Thr) c.372+2408T>C (n.372+2408T>C) | |
| 5 | g.149980759T>G | CA361707288 | SLC26A2 | c.1166T>G (p.Ile389Ser) c.372+2408T>G (n.372+2408T>G) | |
| 5 | g.149980760T>A | CA447402418 | SLC26A2 | c.1167T>A (p.Ile389=) c.372+2409T>A (n.372+2409T>A) | |
| 5 | g.149980760T>C | CA447402417 | SLC26A2 | c.1167T>C (p.Ile389=) c.372+2409T>C (n.372+2409T>C) | |
| 5 | g.149980760T>G | CA361707289 | SLC26A2 | c.1167T>G (p.Ile389Met) c.372+2409T>G (n.372+2409T>G) | |
| 5 | g.149980761T>A | CA361707290 | SLC26A2 | c.1168T>A (p.Ser390Thr) c.372+2410T>A (n.372+2410T>A) | |
| 5 | g.149980761T>C | CA361707291 | SLC26A2 | c.1168T>C (p.Ser390Pro) c.372+2410T>C (n.372+2410T>C) | |
| 5 | g.149980761T>G | CA361707292 | SLC26A2 | c.1168T>G (p.Ser390Ala) c.372+2410T>G (n.372+2410T>G) | |
| 5 | g.149980761_149980762delinsTC | CA1590738509 | SLC26A2 | c.1168_1169delinsTC (p.Ser390=) c.372+2410_372+2411delinsTC (n.372+2410_372+2411delinsTC) | |
| 5 | g.149980762C>A | CA361707295 | SLC26A2 | c.1169C>A (p.Ser390Tyr) c.372+2411C>A (n.372+2411C>A) | |
| 5 | g.149980762C>G | CA361707293 | SLC26A2 | c.1169C>G (p.Ser390Cys) c.372+2411C>G (n.372+2411C>G) | |
| 5 | g.149980762C>T | CA361707294 | SLC26A2 | c.1169C>T (p.Ser390Phe) c.372+2411C>T (n.372+2411C>T) | ClinVar |
| 5 | g.149980763del | CA1590738510 | SLC26A2 | c.1170del (p.Ile391SerfsTer?) c.372+2412del (n.372+2412del) | dbSNP |
| 5 | g.149980763C>A | CA447402420 | SLC26A2 | c.1170C>A (p.Ser390=) c.372+2412C>A (n.372+2412C>A) | |
| 5 | g.149980763C= | CA1590738511 | SLC26A2 | c.1170C= (p.Ser390=) c.372+2412C= (n.372+2412C=) | |
| 5 | g.149980763C>G | CA447402421 | SLC26A2 | c.1170C>G (p.Ser390=) c.372+2412C>G (n.372+2412C>G) | |
| 5 | g.149980763C>T | CA3505396 | SLC26A2 | c.1170C>T (p.Ser390=) c.372+2412C>T (n.372+2412C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980764A= | CA1590738512 | SLC26A2 | c.1171A= (p.Ile391=) c.372+2413A= (n.372+2413A=) | |
| 5 | g.149980764A>C | CA361707296 | SLC26A2 | c.1171A>C (p.Ile391Leu) c.372+2413A>C (n.372+2413A>C) | gnomAD v4 |
| 5 | g.149980764A>G | CA3505397 | SLC26A2 | c.1171A>G (p.Ile391Val) c.372+2413A>G (n.372+2413A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980764A>T | CA361707297 | SLC26A2 | c.1171A>T (p.Ile391Phe) c.372+2413A>T (n.372+2413A>T) | |
| 5 | g.149980765T>A | CA361707298 | SLC26A2 | c.1172T>A (p.Ile391Asn) c.372+2414T>A (n.372+2414T>A) | |
| 5 | g.149980765T>C | CA361707299 | SLC26A2 | c.1172T>C (p.Ile391Thr) c.372+2414T>C (n.372+2414T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980765T>G | CA361707300 | SLC26A2 | c.1172T>G (p.Ile391Ser) c.372+2414T>G (n.372+2414T>G) | |
| 5 | g.149980765T= | CA1590738513 | SLC26A2 | c.1172T= (p.Ile391=) c.372+2414T= (n.372+2414T=) | |
| 5 | g.149980766C>A | CA447402423 | SLC26A2 | c.1173C>A (p.Ile391=) c.372+2415C>A (n.372+2415C>A) | |
| 5 | g.149980766C>G | CA361707301 | SLC26A2 | c.1173C>G (p.Ile391Met) c.372+2415C>G (n.372+2415C>G) | |
| 5 | g.149980766C>T | CA447402424 | SLC26A2 | c.1173C>T (p.Ile391=) c.372+2415C>T (n.372+2415C>T) | |
| 5 | g.149980767A= | CA1590738514 | SLC26A2 | c.1174A= (p.Ile392=) c.372+2416A= (n.372+2416A=) | |
| 5 | g.149980767A>C | CA361707302 | SLC26A2 | c.1174A>C (p.Ile392Leu) c.372+2416A>C (n.372+2416A>C) | |
| 5 | g.149980767A>G | CA361707303 | SLC26A2 | c.1174A>G (p.Ile392Val) c.372+2416A>G (n.372+2416A>G) | dbSNP |
| 5 | g.149980767A>T | CA361707304 | SLC26A2 | c.1174A>T (p.Ile392Phe) c.372+2416A>T (n.372+2416A>T) | |
| 5 | g.149980768T>A | CA361707305 | SLC26A2 | c.1175T>A (p.Ile392Asn) c.372+2417T>A (n.372+2417T>A) | |
| 5 | g.149980768T>C | CA3505398 | SLC26A2 | c.1175T>C (p.Ile392Thr) c.372+2417T>C (n.372+2417T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980768T>G | CA361707306 | SLC26A2 | c.1175T>G (p.Ile392Ser) c.372+2417T>G (n.372+2417T>G) | |
| 5 | g.149980768T= | CA1590738515 | SLC26A2 | c.1175T= (p.Ile392=) c.372+2417T= (n.372+2417T=) | |
| 5 | g.149980769T>A | CA447402427 | SLC26A2 | c.1176T>A (p.Ile392=) c.372+2418T>A (n.372+2418T>A) | |
| 5 | g.149980769T>C | CA447402429 | SLC26A2 | c.1176T>C (p.Ile392=) c.372+2418T>C (n.372+2418T>C) | |
| 5 | g.149980769T>G | CA361707307 | SLC26A2 | c.1176T>G (p.Ile392Met) c.372+2418T>G (n.372+2418T>G) | |
| 5 | g.149980770G>A | CA361707310 | SLC26A2 | c.1177G>A (p.Gly393Ser) c.372+2419G>A (n.372+2419G>A) | |
| 5 | g.149980770G>C | CA361707308 | SLC26A2 | c.1177G>C (p.Gly393Arg) c.372+2419G>C (n.372+2419G>C) | |
| 5 | g.149980770G>T | CA361707309 | SLC26A2 | c.1177G>T (p.Gly393Cys) c.372+2419G>T (n.372+2419G>T) | COSMIC |
| 5 | g.149980771G>A | CA243100 | SLC26A2 | c.1178G>A (p.Gly393Asp) c.372+2420G>A (n.372+2420G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980771G>C | CA361707311 | SLC26A2 | c.1178G>C (p.Gly393Ala) c.372+2420G>C (n.372+2420G>C) | |
| 5 | g.149980771G= | CA1590738516 | SLC26A2 | c.1178G= (p.Gly393=) c.372+2420G= (n.372+2420G=) | |
| 5 | g.149980771G>T | CA361707312 | SLC26A2 | c.1178G>T (p.Gly393Val) c.372+2420G>T (n.372+2420G>T) | COSMIC |
| 5 | g.149980772T>A | CA447402431 | SLC26A2 | c.1179T>A (p.Gly393=) c.372+2421T>A (n.372+2421T>A) | |
| 5 | g.149980772T>C | CA447402432 | SLC26A2 | c.1179T>C (p.Gly393=) c.372+2421T>C (n.372+2421T>C) | |
| 5 | g.149980772T>G | CA447402435 | SLC26A2 | c.1179T>G (p.Gly393=) c.372+2421T>G (n.372+2421T>G) | |
| 5 | g.149980773T>A | CA361707313 | SLC26A2 | c.1180T>A (p.Phe394Ile) c.372+2422T>A (n.372+2422T>A) | |
| 5 | g.149980773T>C | CA361707314 | SLC26A2 | c.1180T>C (p.Phe394Leu) c.372+2422T>C (n.372+2422T>C) | |
| 5 | g.149980773T>G | CA361707315 | SLC26A2 | c.1180T>G (p.Phe394Val) c.372+2422T>G (n.372+2422T>G) | |
| 5 | g.149980774T>A | CA361707316 | SLC26A2 | c.1181T>A (p.Phe394Tyr) c.372+2423T>A (n.372+2423T>A) | |
| 5 | g.149980774T>C | CA361707317 | SLC26A2 | c.1181T>C (p.Phe394Ser) c.372+2423T>C (n.372+2423T>C) | |
| 5 | g.149980774T>G | CA361707318 | SLC26A2 | c.1181T>G (p.Phe394Cys) c.372+2423T>G (n.372+2423T>G) | |
| 5 | g.149980775T>A | CA361707319 | SLC26A2 | c.1182T>A (p.Phe394Leu) c.372+2424T>A (n.372+2424T>A) | |
| 5 | g.149980775T>C | CA447402440 | SLC26A2 | c.1182T>C (p.Phe394=) c.372+2424T>C (n.372+2424T>C) | |
| 5 | g.149980775T>G | CA361707320 | SLC26A2 | c.1182T>G (p.Phe394Leu) c.372+2424T>G (n.372+2424T>G) | |
| 5 | g.149980776G>A | CA361707321 | SLC26A2 | c.1183G>A (p.Ala395Thr) c.372+2425G>A (n.372+2425G>A) | |
| 5 | g.149980776G>C | CA361707322 | SLC26A2 | c.1183G>C (p.Ala395Pro) c.372+2425G>C (n.372+2425G>C) | |
| 5 | g.149980776G= | CA1590738517 | SLC26A2 | c.1183G= (p.Ala395=) c.372+2425G= (n.372+2425G=) | |
| 5 | g.149980776G>T | CA3505399 | SLC26A2 | c.1183G>T (p.Ala395Ser) c.372+2425G>T (n.372+2425G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980777C>A | CA361707323 | SLC26A2 | c.1184C>A (p.Ala395Asp) c.372+2426C>A (n.372+2426C>A) | |
| 5 | g.149980777C>G | CA361707324 | SLC26A2 | c.1184C>G (p.Ala395Gly) c.372+2426C>G (n.372+2426C>G) | |
| 5 | g.149980777C>T | CA361707325 | SLC26A2 | c.1184C>T (p.Ala395Val) c.372+2426C>T (n.372+2426C>T) | |
| 5 | g.149980778T>A | CA447402441 | SLC26A2 | c.1185T>A (p.Ala395=) c.372+2427T>A (n.372+2427T>A) | |
| 5 | g.149980778T>C | CA447402444 | SLC26A2 | c.1185T>C (p.Ala395=) c.372+2427T>C (n.372+2427T>C) | |
| 5 | g.149980778T>G | CA447402442 | SLC26A2 | c.1185T>G (p.Ala395=) c.372+2427T>G (n.372+2427T>G) | |
| 5 | g.149980778T= | CA1590738518 | SLC26A2 | c.1185T= (p.Ala395=) c.372+2427T= (n.372+2427T=) | |
| 5 | g.149980779del | CA2675943645 | SLC26A2 | c.1186del (p.Ile396SerfsTer?) c.372+2428del (n.372+2428del) | gnomAD v4 |
| 5 | g.149980779A= | CA1590738519 | SLC26A2 | c.1186A= (p.Ile396=) c.372+2428A= (n.372+2428A=) | |
| 5 | g.149980779A>C | CA361707326 | SLC26A2 | c.1186A>C (p.Ile396Leu) c.372+2428A>C (n.372+2428A>C) | gnomAD v4 |
| 5 | g.149980779A>G | CA361707327 | SLC26A2 | c.1186A>G (p.Ile396Val) c.372+2428A>G (n.372+2428A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980779A>T | CA361707328 | SLC26A2 | c.1186A>T (p.Ile396Phe) c.372+2428A>T (n.372+2428A>T) | |
| 5 | g.149980779dup | CA3505400 | SLC26A2 | c.1186dup (p.Ile396AsnfsTer7) c.372+2428dup (n.372+2428dup) | dbSNP ExAC |