UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.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) |