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 |
|---|---|---|---|---|---|
| 1 | g.206116518G>A | CA423132390 | AVPR1B | c.373C>T (p.Leu125=) n.36+1146C>T | gnomAD v4 |
| 1 | g.206116518G>C | CA344455261 | AVPR1B | c.373C>G (p.Leu125Val) n.36+1146C>G | |
| 1 | g.206116518G>T | CA344455262 | AVPR1B | c.373C>A (p.Leu125Met) n.36+1146C>A | |
| 1 | g.206116519C>A | CA344455263 | AVPR1B | c.372G>T (p.Met124Ile) n.36+1145G>T | |
| 1 | g.206116519C= | CA2482862232 | AVPR1B | c.372G= (p.Met124=) n.36+1145G= | |
| 1 | g.206116519C>G | CA344455265 | AVPR1B | c.372G>C (p.Met124Ile) n.36+1145G>C | |
| 1 | g.206116519C>T | CA344455267 | AVPR1B | c.372G>A (p.Met124Ile) n.36+1145G>A | |
| 1 | g.206116520A= | CA2482862234 | AVPR1B | c.371T= (p.Met124=) n.36+1144T= | |
| 1 | g.206116520A>C | CA344455268 | AVPR1B | c.371T>G (p.Met124Arg) n.36+1144T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116520A>G | CA344455269 | AVPR1B | c.371T>C (p.Met124Thr) n.36+1144T>C | gnomAD v4 |
| 1 | g.206116520A>T | CA344455270 | AVPR1B | c.371T>A (p.Met124Lys) n.36+1144T>A | |
| 1 | g.206116520dup | CA2482862233 | AVPR1B | c.371dup (p.Met124IlefsTer?) n.36+1144dup | dbSNP |
| 1 | g.206116521T>A | CA344455271 | AVPR1B | c.370A>T (p.Met124Leu) n.36+1143A>T | |
| 1 | g.206116521T>C | CA1359281 | AVPR1B | c.370A>G (p.Met124Val) n.36+1143A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116521T>G | CA344455273 | AVPR1B | c.370A>C (p.Met124Leu) n.36+1143A>C | |
| 1 | g.206116521T= | CA2482862235 | AVPR1B | c.370A= (p.Met124=) n.36+1143A= | |
| 1 | g.206116522G>A | CA1359280 | AVPR1B | c.369C>T (p.Tyr123=) n.36+1142C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116522G>C | CA36510765 | AVPR1B | c.369C>G (p.Tyr123Ter) n.36+1142C>G | |
| 1 | g.206116522G= | CA2482862236 | AVPR1B | c.369C= (p.Tyr123=) n.36+1142C= | |
| 1 | g.206116522G>T | CA36510771 | AVPR1B | c.369C>A (p.Tyr123Ter) n.36+1142C>A | |
| 1 | g.206116523T>A | CA344455279 | AVPR1B | c.368A>T (p.Tyr123Phe) n.36+1141A>T | |
| 1 | g.206116523T>C | CA344455276 | AVPR1B | c.368A>G (p.Tyr123Cys) n.36+1141A>G | gnomAD v4 |
| 1 | g.206116523T>G | CA344455278 | AVPR1B | c.368A>C (p.Tyr123Ser) n.36+1141A>C | |
| 1 | g.206116524A= | CA2482862237 | AVPR1B | c.367T= (p.Tyr123=) n.36+1140T= | |
| 1 | g.206116524A>C | CA344455280 | AVPR1B | c.367T>G (p.Tyr123Asp) n.36+1140T>G | |
| 1 | g.206116524A>G | CA344455281 | AVPR1B | c.367T>C (p.Tyr123His) n.36+1140T>C | dbSNP gnomAD v4 |
| 1 | g.206116524A>T | CA344455283 | AVPR1B | c.367T>A (p.Tyr123Asn) n.36+1140T>A | |
| 1 | g.206116525G>A | CA423132394 | AVPR1B | c.366C>T (p.Thr122=) n.36+1139C>T | gnomAD v4 COSMIC |
| 1 | g.206116525G>C | CA423132395 | AVPR1B | c.366C>G (p.Thr122=) n.36+1139C>G | |
| 1 | g.206116525G>T | CA423132396 | AVPR1B | c.366C>A (p.Thr122=) n.36+1139C>A | |
| 1 | g.206116526G>A | CA344455285 | AVPR1B | c.365C>T (p.Thr122Ile) n.36+1138C>T | |
| 1 | g.206116526G>C | CA344455286 | AVPR1B | c.365C>G (p.Thr122Ser) n.36+1138C>G | |
| 1 | g.206116526G>T | CA344455287 | AVPR1B | c.365C>A (p.Thr122Asn) n.36+1138C>A | gnomAD v4 COSMIC |
| 1 | g.206116527T>A | CA1359279 | AVPR1B | c.364A>T (p.Thr122Ser) n.36+1137A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116527T>C | CA344455290 | AVPR1B | c.364A>G (p.Thr122Ala) n.36+1137A>G | |
| 1 | g.206116527T>G | CA344455292 | AVPR1B | c.364A>C (p.Thr122Pro) n.36+1137A>C | dbSNP |
| 1 | g.206116527T= | CA1142323749 | AVPR1B | c.364A= (p.Thr122=) n.36+1137A= | |
| 1 | g.206116528G>A | CA423132401 | AVPR1B | c.363C>T (p.Ser121=) n.36+1136C>T | |
| 1 | g.206116528G>C | CA423132402 | AVPR1B | c.363C>G (p.Ser121=) n.36+1136C>G | |
| 1 | g.206116528G>T | CA423132403 | AVPR1B | c.363C>A (p.Ser121=) n.36+1136C>A | |
| 1 | g.206116529G>A | CA344455294 | AVPR1B | c.362C>T (p.Ser121Phe) n.36+1135C>T | dbSNP gnomAD v4 |
| 1 | g.206116529G>C | CA344455296 | AVPR1B | c.362C>G (p.Ser121Cys) n.36+1135C>G | |
| 1 | g.206116529G= | CA2482862238 | AVPR1B | c.362C= (p.Ser121=) n.36+1135C= | |
| 1 | g.206116529G>T | CA344455297 | AVPR1B | c.362C>A (p.Ser121Tyr) n.36+1135C>A | dbSNP |
| 1 | g.206116530A>C | CA344455305 | AVPR1B | c.361T>G (p.Ser121Ala) n.36+1134T>G | |
| 1 | g.206116530A>G | CA344455302 | AVPR1B | c.361T>C (p.Ser121Pro) n.36+1134T>C | gnomAD v4 |
| 1 | g.206116530A>T | CA344455299 | AVPR1B | c.361T>A (p.Ser121Thr) n.36+1134T>A | |
| 1 | g.206116531G>A | CA1359278 | AVPR1B | c.360C>T (p.Ala120=) n.36+1133C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116531G>C | CA36510794 | AVPR1B | c.360C>G (p.Ala120=) n.36+1133C>G | |
| 1 | g.206116531G= | CA2482862239 | AVPR1B | c.360C= (p.Ala120=) n.36+1133C= | |
| 1 | g.206116531G>T | CA36510796 | AVPR1B | c.360C>A (p.Ala120=) n.36+1133C>A | |
| 1 | g.206116532G>A | CA344455311 | AVPR1B | c.359C>T (p.Ala120Val) n.36+1132C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116532G>C | CA344455315 | AVPR1B | c.359C>G (p.Ala120Gly) n.36+1132C>G | |
| 1 | g.206116532G= | CA2482862240 | AVPR1B | c.359C= (p.Ala120=) n.36+1132C= | |
| 1 | g.206116532G>T | CA344455317 | AVPR1B | c.359C>A (p.Ala120Asp) n.36+1132C>A | |
| 1 | g.206116533C>A | CA344455319 | AVPR1B | c.358G>T (p.Ala120Ser) n.36+1131G>T | gnomAD v4 |
| 1 | g.206116533C>G | CA344455322 | AVPR1B | c.358G>C (p.Ala120Pro) n.36+1131G>C | |
| 1 | g.206116533C>T | CA344455324 | AVPR1B | c.358G>A (p.Ala120Thr) n.36+1131G>A | |
| 1 | g.206116534A>C | CA344455330 | AVPR1B | c.357T>G (p.Phe119Leu) n.36+1130T>G | |
| 1 | g.206116534A>G | CA423132408 | AVPR1B | c.357T>C (p.Phe119=) n.36+1130T>C | |
| 1 | g.206116534A>T | CA344455327 | AVPR1B | c.357T>A (p.Phe119Leu) n.36+1130T>A | |
| 1 | g.206116535A>C | CA344455334 | AVPR1B | c.356T>G (p.Phe119Cys) n.36+1129T>G | |
| 1 | g.206116535A>G | CA344455336 | AVPR1B | c.356T>C (p.Phe119Ser) n.36+1129T>C | |
| 1 | g.206116535A>T | CA344455339 | AVPR1B | c.356T>A (p.Phe119Tyr) n.36+1129T>A | gnomAD v4 |
| 1 | g.206116536A>C | CA344455342 | AVPR1B | c.355T>G (p.Phe119Val) n.36+1128T>G | |
| 1 | g.206116536A>G | CA344455344 | AVPR1B | c.355T>C (p.Phe119Leu) n.36+1128T>C | |
| 1 | g.206116536A>T | CA344455346 | AVPR1B | c.355T>A (p.Phe119Ile) n.36+1128T>A | |
| 1 | g.206116537C>A | CA344455348 | AVPR1B | c.354G>T (p.Met118Ile) n.36+1127G>T | |
| 1 | g.206116537C>G | CA344455352 | AVPR1B | c.354G>C (p.Met118Ile) n.36+1127G>C | |
| 1 | g.206116537C>T | CA344455349 | AVPR1B | c.354G>A (p.Met118Ile) n.36+1127G>A | gnomAD v4 |
| 1 | g.206116538A>C | CA344455354 | AVPR1B | c.353T>G (p.Met118Arg) n.36+1126T>G | |
| 1 | g.206116538A>G | CA344455356 | AVPR1B | c.353T>C (p.Met118Thr) n.36+1126T>C | |
| 1 | g.206116538A>T | CA344455359 | AVPR1B | c.353T>A (p.Met118Lys) n.36+1126T>A | |
| 1 | g.206116539T>A | CA344455361 | AVPR1B | c.352A>T (p.Met118Leu) n.36+1125A>T | |
| 1 | g.206116539T>C | CA344455363 | AVPR1B | c.352A>G (p.Met118Val) n.36+1125A>G | gnomAD v4 |
| 1 | g.206116539T>G | CA344455365 | AVPR1B | c.352A>C (p.Met118Leu) n.36+1125A>C | dbSNP |
| 1 | g.206116539T= | CA2482862241 | AVPR1B | c.352A= (p.Met118=) n.36+1125A= | |
| 1 | g.206116540G>A | CA423132417 | AVPR1B | c.351C>T (p.Ser117=) n.36+1124C>T | gnomAD v4 |
| 1 | g.206116540G>C | CA344455366 | AVPR1B | c.351C>G (p.Ser117Arg) n.36+1124C>G | |
| 1 | g.206116540G>T | CA344455367 | AVPR1B | c.351C>A (p.Ser117Arg) n.36+1124C>A | |
| 1 | g.206116541C>A | CA344455369 | AVPR1B | c.350G>T (p.Ser117Ile) n.36+1123G>T | |
| 1 | g.206116541C>G | CA344455372 | AVPR1B | c.350G>C (p.Ser117Thr) n.36+1123G>C | |
| 1 | g.206116541C>T | CA344455375 | AVPR1B | c.350G>A (p.Ser117Asn) n.36+1123G>A | gnomAD v4 |
| 1 | g.206116542T>A | CA344455381 | AVPR1B | c.349A>T (p.Ser117Cys) n.36+1122A>T | |
| 1 | g.206116542T>C | CA344455378 | AVPR1B | c.349A>G (p.Ser117Gly) n.36+1122A>G | |
| 1 | g.206116542T>G | CA344455377 | AVPR1B | c.349A>C (p.Ser117Arg) n.36+1122A>C | |
| 1 | g.206116543G>A | CA423132422 | AVPR1B | c.348C>T (p.Leu116=) n.36+1121C>T | gnomAD v4 |
| 1 | g.206116543G>C | CA423132423 | AVPR1B | c.348C>G (p.Leu116=) n.36+1121C>G | |
| 1 | g.206116543G>T | CA423132424 | AVPR1B | c.348C>A (p.Leu116=) n.36+1121C>A | |
| 1 | g.206116544A>C | CA344455387 | AVPR1B | c.347T>G (p.Leu116Arg) n.36+1120T>G | |
| 1 | g.206116544A>G | CA344455383 | AVPR1B | c.347T>C (p.Leu116Pro) n.36+1120T>C | |
| 1 | g.206116544A>T | CA344455385 | AVPR1B | c.347T>A (p.Leu116His) n.36+1120T>A | |
| 1 | g.206116545G>A | CA344455389 | AVPR1B | c.346C>T (p.Leu116Phe) n.36+1119C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116545G>C | CA344455391 | AVPR1B | c.346C>G (p.Leu116Val) n.36+1119C>G | |
| 1 | g.206116545G= | CA2482862242 | AVPR1B | c.346C= (p.Leu116=) n.36+1119C= | |
| 1 | g.206116545G>T | CA344455393 | AVPR1B | c.346C>A (p.Leu116Ile) n.36+1119C>A | |
| 1 | g.206116546C>A | CA423132427 | AVPR1B | c.345G>T (p.Val115=) n.36+1118G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116546C= | CA2482862243 | AVPR1B | c.345G= (p.Val115=) n.36+1118G= | |
| 1 | g.206116546C>G | CA423132429 | AVPR1B | c.345G>C (p.Val115=) n.36+1118G>C | |
| 1 | g.206116546C>T | CA423132432 | AVPR1B | c.345G>A (p.Val115=) n.36+1118G>A | dbSNP gnomAD v4 |
| 1 | g.206116547A= | CA1147743326 | AVPR1B | c.344T= (p.Val115=) n.36+1117T= | |
| 1 | g.206116547A>C | CA344455395 | AVPR1B | c.344T>G (p.Val115Gly) n.36+1117T>G | |
| 1 | g.206116547A>G | CA1359277 | AVPR1B | c.344T>C (p.Val115Ala) n.36+1117T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116547A>T | CA344455398 | AVPR1B | c.344T>A (p.Val115Glu) n.36+1117T>A | |
| 1 | g.206116548C>A | CA344455402 | AVPR1B | c.343G>T (p.Val115Leu) n.36+1116G>T | |
| 1 | g.206116548C>G | CA344455404 | AVPR1B | c.343G>C (p.Val115Leu) n.36+1116G>C | |
| 1 | g.206116548C>T | CA344455407 | AVPR1B | c.343G>A (p.Val115Met) n.36+1116G>A | |
| 1 | g.206116549C>A | CA344455409 | AVPR1B | c.342G>T (p.Gln114His) n.36+1115G>T | |
| 1 | g.206116549C>G | CA344455411 | AVPR1B | c.342G>C (p.Gln114His) n.36+1115G>C | gnomAD v4 |
| 1 | g.206116549C>T | CA423132438 | AVPR1B | c.342G>A (p.Gln114=) n.36+1115G>A | dbSNP gnomAD v4 |
| 1 | g.206116550T>A | CA344455416 | AVPR1B | c.341A>T (p.Gln114Leu) n.36+1114A>T | gnomAD v4 |
| 1 | g.206116550T>C | CA344455414 | AVPR1B | c.341A>G (p.Gln114Arg) n.36+1114A>G | |
| 1 | g.206116550T>G | CA344455415 | AVPR1B | c.341A>C (p.Gln114Pro) n.36+1114A>C | |
| 1 | g.206116551G>A | CA344455418 | AVPR1B | c.340C>T (p.Gln114Ter) n.36+1113C>T | |
| 1 | g.206116551G>C | CA344455421 | AVPR1B | c.340C>G (p.Gln114Glu) n.36+1113C>G | |
| 1 | g.206116551G>T | CA344455423 | AVPR1B | c.340C>A (p.Gln114Lys) n.36+1113C>A | |
| 1 | g.206116552C>A | CA423132442 | AVPR1B | c.339G>T (p.Leu113=) n.36+1112G>T | |
| 1 | g.206116552C>G | CA423132443 | AVPR1B | c.339G>C (p.Leu113=) n.36+1112G>C | gnomAD v4 |
| 1 | g.206116552C>T | CA423132444 | AVPR1B | c.339G>A (p.Leu113=) n.36+1112G>A | |
| 1 | g.206116553A>C | CA344455426 | AVPR1B | c.338T>G (p.Leu113Arg) n.36+1111T>G | |
| 1 | g.206116553A>G | CA344455430 | AVPR1B | c.338T>C (p.Leu113Pro) n.36+1111T>C | gnomAD v4 |
| 1 | g.206116553A>T | CA344455432 | AVPR1B | c.338T>A (p.Leu113Gln) n.36+1111T>A | |
| 1 | g.206116554G>A | CA423132447 | AVPR1B | c.337C>T (p.Leu113=) n.36+1110C>T | |
| 1 | g.206116554G>C | CA1359276 | AVPR1B | c.337C>G (p.Leu113Val) n.36+1110C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116554G= | CA1141829199 | AVPR1B | c.337C= (p.Leu113=) n.36+1110C= | |
| 1 | g.206116554G>T | CA344455439 | AVPR1B | c.337C>A (p.Leu113Met) n.36+1110C>A | |
| 1 | g.206116555G>A | CA36510813 | AVPR1B | c.336C>T (p.Tyr112=) n.36+1109C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116555G>C | CA344455441 | AVPR1B | c.336C>G (p.Tyr112Ter) n.36+1109C>G | |
| 1 | g.206116555G= | CA2482862244 | AVPR1B | c.336C= (p.Tyr112=) n.36+1109C= | |
| 1 | g.206116555G>T | CA344455444 | AVPR1B | c.336C>A (p.Tyr112Ter) n.36+1109C>A | gnomAD v4 |
| 1 | g.206116556T>A | CA344455447 | AVPR1B | c.335A>T (p.Tyr112Phe) n.36+1108A>T | |
| 1 | g.206116556T>C | CA36510826 | AVPR1B | c.335A>G (p.Tyr112Cys) n.36+1108A>G | dbSNP gnomAD v4 |
| 1 | g.206116556T>G | CA344455452 | AVPR1B | c.335A>C (p.Tyr112Ser) n.36+1108A>C | |
| 1 | g.206116556T= | CA2482862245 | AVPR1B | c.335A= (p.Tyr112=) n.36+1108A= | |
| 1 | g.206116557A>C | CA344455457 | AVPR1B | c.334T>G (p.Tyr112Asp) n.36+1107T>G | |
| 1 | g.206116557A>G | CA344455458 | AVPR1B | c.334T>C (p.Tyr112His) n.36+1107T>C | |
| 1 | g.206116557A>T | CA344455455 | AVPR1B | c.334T>A (p.Tyr112Asn) n.36+1107T>A | |
| 1 | g.206116558C>A | CA344455459 | AVPR1B | c.333G>T (p.Lys111Asn) n.36+1106G>T | |
| 1 | g.206116558C= | CA1141843541 | AVPR1B | c.333G= (p.Lys111=) n.36+1106G= | |
| 1 | g.206116558C>G | CA344455460 | AVPR1B | c.333G>C (p.Lys111Asn) n.36+1106G>C | |
| 1 | g.206116558C>T | CA1359275 | AVPR1B | c.333G>A (p.Lys111=) n.36+1106G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116559T>A | CA1359274 | AVPR1B | c.332A>T (p.Lys111Met) n.36+1105A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116559T>C | CA344455465 | AVPR1B | c.332A>G (p.Lys111Arg) n.36+1105A>G | |
| 1 | g.206116559T>G | CA344455467 | AVPR1B | c.332A>C (p.Lys111Thr) n.36+1105A>C | |
| 1 | g.206116559T= | CA1143854692 | AVPR1B | c.332A= (p.Lys111=) n.36+1105A= | |
| 1 | g.206116560T>A | CA1359273 | AVPR1B | c.331A>T (p.Lys111Ter) n.36+1104A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116560T>C | CA344455470 | AVPR1B | c.331A>G (p.Lys111Glu) n.36+1104A>G | |
| 1 | g.206116560T>G | CA344455471 | AVPR1B | c.331A>C (p.Lys111Gln) n.36+1104A>C | COSMIC |
| 1 | g.206116560T= | CA2482862246 | AVPR1B | c.331A= (p.Lys111=) n.36+1104A= | |
| 1 | g.206116561G>A | CA423132454 | AVPR1B | c.330C>T (p.Val110=) n.36+1103C>T | |
| 1 | g.206116561G>C | CA423132456 | AVPR1B | c.330C>G (p.Val110=) n.36+1103C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116561G= | CA2482862247 | AVPR1B | c.330C= (p.Val110=) n.36+1103C= | |
| 1 | g.206116561G>T | CA423132458 | AVPR1B | c.330C>A (p.Val110=) n.36+1103C>A | |
| 1 | g.206116562A>C | CA344455472 | AVPR1B | c.329T>G (p.Val110Gly) n.36+1102T>G | |
| 1 | g.206116562A>G | CA344455473 | AVPR1B | c.329T>C (p.Val110Ala) n.36+1102T>C | |
| 1 | g.206116562A>T | CA344455475 | AVPR1B | c.329T>A (p.Val110Asp) n.36+1102T>A | |
| 1 | g.206116563C>A | CA36510850 | AVPR1B | c.328G>T (p.Val110Phe) n.36+1101G>T | dbSNP gnomAD v4 |
| 1 | g.206116563C= | CA2482862248 | AVPR1B | c.328G= (p.Val110=) n.36+1101G= | |
| 1 | g.206116563C>G | CA36510856 | AVPR1B | c.328G>C (p.Val110Leu) n.36+1101G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116563C>T | CA1359272 | AVPR1B | c.328G>A (p.Val110Ile) n.36+1101G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.206116564G>A | CA423132463 | AVPR1B | c.327C>T (p.Ala109=) n.36+1100C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.206116564G>C | CA423132464 | AVPR1B | c.327C>G (p.Ala109=) n.36+1100C>G | gnomAD v4 |
| 1 | g.206116564G= | CA2482862249 | AVPR1B | c.327C= (p.Ala109=) n.36+1100C= | |
| 1 | g.206116564G>T | CA423132466 | AVPR1B | c.327C>A (p.Ala109=) n.36+1100C>A | |
| 1 | g.206116565G>A | CA344455493 | AVPR1B | c.326C>T (p.Ala109Val) n.36+1099C>T | COSMIC |
| 1 | g.206116565G>C | CA344455491 | AVPR1B | c.326C>G (p.Ala109Gly) n.36+1099C>G | |
| 1 | g.206116565G>T | CA344455489 | AVPR1B | c.326C>A (p.Ala109Asp) n.36+1099C>A | |
| 1 | g.206116566C>A | CA344455496 | AVPR1B | c.325G>T (p.Ala109Ser) n.36+1098G>T | |
| 1 | g.206116566C= | CA2482862250 | AVPR1B | c.325G= (p.Ala109=) n.36+1098G= | |
| 1 | g.206116566C>G | CA344455497 | AVPR1B | c.325G>C (p.Ala109Pro) n.36+1098G>C | |
| 1 | g.206116566C>T | CA344455498 | AVPR1B | c.325G>A (p.Ala109Thr) n.36+1098G>A | dbSNP |
| 1 | g.206116567C>A | CA344455499 | AVPR1B | c.324G>T (p.Arg108Ser) n.36+1097G>T | |
| 1 | g.206116567C>G | CA344455501 | AVPR1B | c.324G>C (p.Arg108Ser) n.36+1097G>C | |
| 1 | g.206116567C>T | CA423132475 | AVPR1B | c.324G>A (p.Arg108=) n.36+1097G>A | gnomAD v4 |
| 1 | g.206116568C>A | CA344455503 | AVPR1B | c.323G>T (p.Arg108Met) n.36+1096G>T | |
| 1 | g.206116568C>G | CA344455505 | AVPR1B | c.323G>C (p.Arg108Thr) n.36+1096G>C | |
| 1 | g.206116568C>T | CA344455507 | AVPR1B | c.323G>A (p.Arg108Lys) n.36+1096G>A | |
| 1 | g.206116569T>A | CA344455508 | AVPR1B | c.322A>T (p.Arg108Trp) n.36+1095A>T | |
| 1 | g.206116569T>C | CA344455509 | AVPR1B | c.322A>G (p.Arg108Gly) n.36+1095A>G | gnomAD v4 |
| 1 | g.206116569T>G | CA423132478 | AVPR1B | c.322A>C (p.Arg108=) n.36+1095A>C | |
| 1 | g.206116570G>A | CA423132479 | AVPR1B | c.321C>T (p.Cys107=) n.36+1094C>T | |
| 1 | g.206116570G>C | CA344455510 | AVPR1B | c.321C>G (p.Cys107Trp) n.36+1094C>G | |
| 1 | g.206116570G>T | CA344455511 | AVPR1B | c.321C>A (p.Cys107Ter) n.36+1094C>A | |
| 1 | g.206116571C>A | CA344455516 | AVPR1B | c.320G>T (p.Cys107Phe) n.36+1093G>T | dbSNP gnomAD v4 |
| 1 | g.206116571C= | CA2482862251 | AVPR1B | c.320G= (p.Cys107=) n.36+1093G= | |
| 1 | g.206116571C>G | CA344455514 | AVPR1B | c.320G>C (p.Cys107Ser) n.36+1093G>C | |
| 1 | g.206116571C>T | CA344455512 | AVPR1B | c.320G>A (p.Cys107Tyr) n.36+1093G>A | |
| 1 | g.206116572A= | CA2482862252 | AVPR1B | c.319T= (p.Cys107=) n.36+1092T= | |
| 1 | g.206116572A>C | CA36510870 | AVPR1B | c.319T>G (p.Cys107Gly) n.36+1092T>G | |
| 1 | g.206116572A>G | CA1359271 | AVPR1B | c.319T>C (p.Cys107Arg) n.36+1092T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116572A>T | CA36510866 | AVPR1B | c.319T>A (p.Cys107Ser) n.36+1092T>A | |
| 1 | g.206116573C>A | CA423132487 | AVPR1B | c.318G>T (p.Leu106=) n.36+1091G>T | |
| 1 | g.206116573C>G | CA423132490 | AVPR1B | c.318G>C (p.Leu106=) n.36+1091G>C | |
| 1 | g.206116573C>T | CA423132493 | AVPR1B | c.318G>A (p.Leu106=) n.36+1091G>A | |
| 1 | g.206116574A>C | CA344455528 | AVPR1B | c.317T>G (p.Leu106Arg) n.36+1090T>G | |
| 1 | g.206116574A>G | CA344455529 | AVPR1B | c.317T>C (p.Leu106Pro) n.36+1090T>C | |
| 1 | g.206116574A>T | CA344455530 | AVPR1B | c.317T>A (p.Leu106Gln) n.36+1090T>A | |
| 1 | g.206116575G>A | CA423132497 | AVPR1B | c.316C>T (p.Leu106=) n.36+1089C>T | gnomAD v4 |
| 1 | g.206116575G>C | CA344455532 | AVPR1B | c.316C>G (p.Leu106Val) n.36+1089C>G | |
| 1 | g.206116575G>T | CA344455534 | AVPR1B | c.316C>A (p.Leu106Met) n.36+1089C>A | COSMIC |
| 1 | g.206116576G>A | CA423132500 | AVPR1B | c.315C>T (p.Leu105=) n.36+1088C>T | |
| 1 | g.206116576G>C | CA423132502 | AVPR1B | c.315C>G (p.Leu105=) n.36+1088C>G | |
| 1 | g.206116576G>T | CA423132504 | AVPR1B | c.315C>A (p.Leu105=) n.36+1088C>A | |
| 1 | g.206116577A>C | CA344455536 | AVPR1B | c.314T>G (p.Leu105Arg) n.36+1087T>G | |
| 1 | g.206116577A>G | CA344455538 | AVPR1B | c.314T>C (p.Leu105Pro) n.36+1087T>C | |
| 1 | g.206116577A>T | CA344455540 | AVPR1B | c.314T>A (p.Leu105His) n.36+1087T>A | |
| 1 | g.206116578G>A | CA344455542 | AVPR1B | c.313C>T (p.Leu105Phe) n.36+1086C>T | |
| 1 | g.206116578G>C | CA344455544 | AVPR1B | c.313C>G (p.Leu105Val) n.36+1086C>G | |
| 1 | g.206116578G>T | CA344455545 | AVPR1B | c.313C>A (p.Leu105Ile) n.36+1086C>A | |
| 1 | g.206116579G>A | CA1359270 | AVPR1B | c.312C>T (p.Asp104=) n.36+1085C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116579G>C | CA36510876 | AVPR1B | c.312C>G (p.Asp104Glu) n.36+1085C>G | |
| 1 | g.206116579G= | CA2482862253 | AVPR1B | c.312C= (p.Asp104=) n.36+1085C= | |
| 1 | g.206116579G>T | CA36510881 | AVPR1B | c.312C>A (p.Asp104Glu) n.36+1085C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116580T>A | CA344455551 | AVPR1B | c.311A>T (p.Asp104Val) n.36+1084A>T | |
| 1 | g.206116580T>C | CA344455558 | AVPR1B | c.311A>G (p.Asp104Gly) n.36+1084A>G | gnomAD v4 |
| 1 | g.206116580T>G | CA344455561 | AVPR1B | c.311A>C (p.Asp104Ala) n.36+1084A>C | dbSNP |
| 1 | g.206116580T= | CA2482862254 | AVPR1B | c.311A= (p.Asp104=) n.36+1084A= | |
| 1 | g.206116581C>A | CA36510885 | AVPR1B | c.310G>T (p.Asp104Tyr) n.36+1083G>T | |
| 1 | g.206116581C= | CA2482862255 | AVPR1B | c.310G= (p.Asp104=) n.36+1083G= | |
| 1 | g.206116581C>G | CA36510889 | AVPR1B | c.310G>C (p.Asp104His) n.36+1083G>C | |
| 1 | g.206116581C>T | CA1359269 | AVPR1B | c.310G>A (p.Asp104Asn) n.36+1083G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116582G>A | CA1359268 | AVPR1B | c.309C>T (p.Pro103=) n.36+1082C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116582G>C | CA36510894 | AVPR1B | c.309C>G (p.Pro103=) n.36+1082C>G | |
| 1 | g.206116582G= | CA2482862256 | AVPR1B | c.309C= (p.Pro103=) n.36+1082C= | |
| 1 | g.206116582G>T | CA36510901 | AVPR1B | c.309C>A (p.Pro103=) n.36+1082C>A | |
| 1 | g.206116583G>A | CA344455574 | AVPR1B | c.308C>T (p.Pro103Leu) n.36+1081C>T | dbSNP |
| 1 | g.206116583G>C | CA1359267 | AVPR1B | c.308C>G (p.Pro103Arg) n.36+1081C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116583G= | CA1144762368 | AVPR1B | c.308C= (p.Pro103=) n.36+1081C= | |
| 1 | g.206116583G>T | CA344455575 | AVPR1B | c.308C>A (p.Pro103His) n.36+1081C>A | |
| 1 | g.206116584G>A | CA344455578 | AVPR1B | c.307C>T (p.Pro103Ser) n.36+1080C>T | gnomAD v4 |
| 1 | g.206116584G>C | CA344455581 | AVPR1B | c.307C>G (p.Pro103Ala) n.36+1080C>G | gnomAD v4 |
| 1 | g.206116584G>T | CA344455580 | AVPR1B | c.307C>A (p.Pro103Thr) n.36+1080C>A | |
| 1 | g.206116585G>A | CA423132513 | AVPR1B | c.306C>T (p.Gly102=) n.36+1079C>T | |
| 1 | g.206116585G>C | CA423132514 | AVPR1B | c.306C>G (p.Gly102=) n.36+1079C>G | |
| 1 | g.206116585G>T | CA423132515 | AVPR1B | c.306C>A (p.Gly102=) n.36+1079C>A | |
| 1 | g.206116586C>A | CA344455583 | AVPR1B | c.305G>T (p.Gly102Val) n.36+1078G>T | |
| 1 | g.206116586C>G | CA344455587 | AVPR1B | c.305G>C (p.Gly102Ala) n.36+1078G>C | |
| 1 | g.206116586C>T | CA344455585 | AVPR1B | c.305G>A (p.Gly102Asp) n.36+1078G>A | gnomAD v4 |
| 1 | g.206116587C>A | CA344455589 | AVPR1B | c.304G>T (p.Gly102Cys) n.36+1077G>T | |
| 1 | g.206116587C= | CA2482862257 | AVPR1B | c.304G= (p.Gly102=) n.36+1077G= | |
| 1 | g.206116587C>G | CA344455592 | AVPR1B | c.304G>C (p.Gly102Arg) n.36+1077G>C | |
| 1 | g.206116587C>T | CA344455590 | AVPR1B | c.304G>A (p.Gly102Ser) n.36+1077G>A | dbSNP gnomAD v4 |
| 1 | g.206116588C>A | CA344455593 | AVPR1B | c.303G>T (p.Gln101His) n.36+1076G>T | |
| 1 | g.206116588C= | CA1143596793 | AVPR1B | c.303G= (p.Gln101=) n.36+1076G= | |
| 1 | g.206116588C>G | CA36510913 | AVPR1B | c.303G>C (p.Gln101His) n.36+1076G>C | dbSNP |
| 1 | g.206116588C>T | CA423132518 | AVPR1B | c.303G>A (p.Gln101=) n.36+1076G>A | dbSNP |
| 1 | g.206116589T>A | CA344455595 | AVPR1B | c.302A>T (p.Gln101Leu) n.36+1075A>T | dbSNP |
| 1 | g.206116589T>C | CA344455598 | AVPR1B | c.302A>G (p.Gln101Arg) n.36+1075A>G | |
| 1 | g.206116589T>G | CA344455597 | AVPR1B | c.302A>C (p.Gln101Pro) n.36+1075A>C | |
| 1 | g.206116589T= | CA2482862258 | AVPR1B | c.302A= (p.Gln101=) n.36+1075A= | |
| 1 | g.206116590G>A | CA1359266 | AVPR1B | c.301C>T (p.Gln101Ter) n.36+1074C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116590G>C | CA36510920 | AVPR1B | c.301C>G (p.Gln101Glu) n.36+1074C>G | |
| 1 | g.206116590G= | CA2482862259 | AVPR1B | c.301C= (p.Gln101=) n.36+1074C= | |
| 1 | g.206116590G>T | CA36510924 | AVPR1B | c.301C>A (p.Gln101Lys) n.36+1074C>A | |
| 1 | g.206116591G>A | CA423132519 | AVPR1B | c.300C>T (p.Phe100=) n.36+1073C>T | |
| 1 | g.206116591G>C | CA344455602 | AVPR1B | c.300C>G (p.Phe100Leu) n.36+1073C>G | |
| 1 | g.206116591G>T | CA344455603 | AVPR1B | c.300C>A (p.Phe100Leu) n.36+1073C>A | |
| 1 | g.206116592A= | CA2482862260 | AVPR1B | c.299T= (p.Phe100=) n.36+1072T= | |
| 1 | g.206116592A>C | CA344455607 | AVPR1B | c.299T>G (p.Phe100Cys) n.36+1072T>G | |
| 1 | g.206116592A>G | CA344455606 | AVPR1B | c.299T>C (p.Phe100Ser) n.36+1072T>C | |
| 1 | g.206116592A>T | CA344455605 | AVPR1B | c.299T>A (p.Phe100Tyr) n.36+1072T>A | |
| 1 | g.206116593A>C | CA344455608 | AVPR1B | c.298T>G (p.Phe100Val) n.36+1071T>G | |
| 1 | g.206116593A>G | CA344455609 | AVPR1B | c.298T>C (p.Phe100Leu) n.36+1071T>C | |
| 1 | g.206116593A>T | CA344455610 | AVPR1B | c.298T>A (p.Phe100Ile) n.36+1071T>A | |
| 1 | g.206116602_206116603insTCCAGCGGTAGGT | CA730518597 | AVPR1B | c.298_299insGGAACCTACCGCT (p.Phe100TrpfsTer?) n.36+1071_36+1072insGGAACCTACCGCT | dbSNP |
| 1 | g.206116594G>A | CA423132525 | AVPR1B | c.297C>T (p.Arg99=) n.36+1070C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116594G>C | CA423132526 | AVPR1B | c.297C>G (p.Arg99=) n.36+1070C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116594G= | CA2482862261 | AVPR1B | c.297C= (p.Arg99=) n.36+1070C= | |
| 1 | g.206116594G>T | CA423132527 | AVPR1B | c.297C>A (p.Arg99=) n.36+1070C>A | |
| 1 | g.206116595C>A | CA344455612 | AVPR1B | c.296G>T (p.Arg99Leu) n.36+1069G>T | |
| 1 | g.206116595C= | CA2482862262 | AVPR1B | c.296G= (p.Arg99=) n.36+1069G= | |
| 1 | g.206116595C>G | CA344455614 | AVPR1B | c.296G>C (p.Arg99Pro) n.36+1069G>C | |
| 1 | g.206116595C>T | CA344455615 | AVPR1B | c.296G>A (p.Arg99His) n.36+1069G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116596G>A | CA1359265 | AVPR1B | c.295C>T (p.Arg99Cys) n.36+1068C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116596G>C | CA36510938 | AVPR1B | c.295C>G (p.Arg99Gly) n.36+1068C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116596G= | CA2482862263 | AVPR1B | c.295C= (p.Arg99=) n.36+1068C= | |
| 1 | g.206116596G>T | CA36510941 | AVPR1B | c.295C>A (p.Arg99Ser) n.36+1068C>A | |
| 1 | g.206116597del | CA913072384 | AVPR1B | c.295del (p.Arg99AlafsTer30) n.36+1068del | |
| 1 | g.206116597G>A | CA423132528 | AVPR1B | c.294C>T (p.Tyr98=) n.36+1067C>T | |
| 1 | g.206116597G>C | CA344455620 | AVPR1B | c.294C>G (p.Tyr98Ter) n.36+1067C>G | |
| 1 | g.206116597G>T | CA344455621 | AVPR1B | c.294C>A (p.Tyr98Ter) n.36+1067C>A | gnomAD v4 |
| 1 | g.206116598T>A | CA344455624 | AVPR1B | c.293A>T (p.Tyr98Phe) n.36+1066A>T | gnomAD v4 |
| 1 | g.206116598T>C | CA344455625 | AVPR1B | c.293A>G (p.Tyr98Cys) n.36+1066A>G | |
| 1 | g.206116598T>G | CA344455626 | AVPR1B | c.293A>C (p.Tyr98Ser) n.36+1066A>C | |
| 1 | g.206116599A>C | CA344455627 | AVPR1B | c.292T>G (p.Tyr98Asp) n.36+1065T>G | |
| 1 | g.206116599A>G | CA344455628 | AVPR1B | c.292T>C (p.Tyr98His) n.36+1065T>C | |
| 1 | g.206116599A>T | CA344455629 | AVPR1B | c.292T>A (p.Tyr98Asn) n.36+1065T>A | |
| 1 | g.206116600G>A | CA1359264 | AVPR1B | c.291C>T (p.Thr97=) n.36+1064C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116600G>C | CA36510943 | AVPR1B | c.291C>G (p.Thr97=) n.36+1064C>G | |
| 1 | g.206116600G= | CA2482862264 | AVPR1B | c.291C= (p.Thr97=) n.36+1064C= | |
| 1 | g.206116600G>T | CA36510946 | AVPR1B | c.291C>A (p.Thr97=) n.36+1064C>A | |
| 1 | g.206116601G>A | CA344455634 | AVPR1B | c.290C>T (p.Thr97Ile) n.36+1063C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116601G>C | CA344455637 | AVPR1B | c.290C>G (p.Thr97Ser) n.36+1063C>G | |
| 1 | g.206116601G= | CA2482862265 | AVPR1B | c.290C= (p.Thr97=) n.36+1063C= | |
| 1 | g.206116601G>T | CA344455635 | AVPR1B | c.290C>A (p.Thr97Asn) n.36+1063C>A | |
| 1 | g.206116602T>A | CA344455639 | AVPR1B | c.289A>T (p.Thr97Ser) n.36+1062A>T | |
| 1 | g.206116602T>C | CA344455641 | AVPR1B | c.289A>G (p.Thr97Ala) n.36+1062A>G | gnomAD v4 |
| 1 | g.206116602T>G | CA344455643 | AVPR1B | c.289A>C (p.Thr97Pro) n.36+1062A>C | |
| 1 | g.206116603G>A | CA1359263 | AVPR1B | c.288C>T (p.Ile96=) n.36+1061C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116603G>C | CA36510951 | AVPR1B | c.288C>G (p.Ile96Met) n.36+1061C>G | gnomAD v4 |
| 1 | g.206116603G= | CA2482862266 | AVPR1B | c.288C= (p.Ile96=) n.36+1061C= | |
| 1 | g.206116603G>T | CA36510950 | AVPR1B | c.288C>A (p.Ile96=) n.36+1061C>A | |
| 1 | g.206116604A>C | CA344455651 | AVPR1B | c.287T>G (p.Ile96Ser) n.36+1060T>G | |
| 1 | g.206116604A>G | CA344455653 | AVPR1B | c.287T>C (p.Ile96Thr) n.36+1060T>C | |
| 1 | g.206116604A>T | CA344455654 | AVPR1B | c.287T>A (p.Ile96Asn) n.36+1060T>A | gnomAD v4 |
| 1 | g.206116605T>A | CA36510953 | AVPR1B | c.286A>T (p.Ile96Phe) n.36+1059A>T | |
| 1 | g.206116605T>C | CA1359262 | AVPR1B | c.286A>G (p.Ile96Val) n.36+1059A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116605T>G | CA36510957 | AVPR1B | c.286A>C (p.Ile96Leu) n.36+1059A>C | |
| 1 | g.206116605T= | CA2482862267 | AVPR1B | c.286A= (p.Ile96=) n.36+1059A= | |
| 1 | g.206116606G>A | CA423132536 | AVPR1B | c.285C>T (p.Asp95=) n.36+1058C>T | |
| 1 | g.206116606G>C | CA344455658 | AVPR1B | c.285C>G (p.Asp95Glu) n.36+1058C>G | |
| 1 | g.206116606G>T | CA344455656 | AVPR1B | c.285C>A (p.Asp95Glu) n.36+1058C>A | |
| 1 | g.206116607T>A | CA344455660 | AVPR1B | c.284A>T (p.Asp95Val) n.36+1057A>T | |
| 1 | g.206116607T>C | CA344455661 | AVPR1B | c.284A>G (p.Asp95Gly) n.36+1057A>G | |
| 1 | g.206116607T>G | CA344455665 | AVPR1B | c.284A>C (p.Asp95Ala) n.36+1057A>C | |
| 1 | g.206116608C>A | CA344455667 | AVPR1B | c.283G>T (p.Asp95Tyr) n.36+1056G>T | |
| 1 | g.206116608C>G | CA344455670 | AVPR1B | c.283G>C (p.Asp95His) n.36+1056G>C | gnomAD v4 |
| 1 | g.206116608C>T | CA344455672 | AVPR1B | c.283G>A (p.Asp95Asn) n.36+1056G>A | |
| 1 | g.206116609C>A | CA344455675 | AVPR1B | c.282G>T (p.Trp94Cys) n.36+1055G>T | |
| 1 | g.206116609C>G | CA344455677 | AVPR1B | c.282G>C (p.Trp94Cys) n.36+1055G>C | |
| 1 | g.206116609C>T | CA344455679 | AVPR1B | c.282G>A (p.Trp94Ter) n.36+1055G>A | |
| 1 | g.206116610C>A | CA344455682 | AVPR1B | c.281G>T (p.Trp94Leu) n.36+1054G>T | |
| 1 | g.206116610C= | CA2482862268 | AVPR1B | c.281G= (p.Trp94=) n.36+1054G= | |
| 1 | g.206116610C>G | CA344455684 | AVPR1B | c.281G>C (p.Trp94Ser) n.36+1054G>C | |
| 1 | g.206116610C>T | CA344455687 | AVPR1B | c.281G>A (p.Trp94Ter) n.36+1054G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116611A= | CA2482862269 | AVPR1B | c.280T= (p.Trp94=) n.36+1053T= | |
| 1 | g.206116611A>C | CA344455694 | AVPR1B | c.280T>G (p.Trp94Gly) n.36+1053T>G | |
| 1 | g.206116611A>G | CA344455696 | AVPR1B | c.280T>C (p.Trp94Arg) n.36+1053T>C | |
| 1 | g.206116611A>T | CA344455691 | AVPR1B | c.280T>A (p.Trp94Arg) n.36+1053T>A | dbSNP gnomAD v4 |
| 1 | g.206116612C>A | CA423132287 | AVPR1B | c.279G>T (p.Leu93=) n.36+1052G>T | |
| 1 | g.206116612C= | CA2482862270 | AVPR1B | c.279G= (p.Leu93=) n.36+1052G= | |
| 1 | g.206116612C>G | CA423132288 | AVPR1B | c.279G>C (p.Leu93=) n.36+1052G>C | |
| 1 | g.206116612C>T | CA36510968 | AVPR1B | c.279G>A (p.Leu93=) n.36+1052G>A | dbSNP gnomAD v4 |
| 1 | g.206116613A>C | CA344455703 | AVPR1B | c.278T>G (p.Leu93Arg) n.36+1051T>G | |
| 1 | g.206116613A>G | CA344455704 | AVPR1B | c.278T>C (p.Leu93Pro) n.36+1051T>C | gnomAD v4 |
| 1 | g.206116613A>T | CA344455706 | AVPR1B | c.278T>A (p.Leu93Gln) n.36+1051T>A | |
| 1 | g.206116614G>A | CA423132290 | AVPR1B | c.277C>T (p.Leu93=) n.36+1050C>T | |
| 1 | g.206116614G>C | CA344455710 | AVPR1B | c.277C>G (p.Leu93Val) n.36+1050C>G | |
| 1 | g.206116614G>T | CA344455712 | AVPR1B | c.277C>A (p.Leu93Met) n.36+1050C>A | |
| 1 | g.206116615C>A | CA423132291 | AVPR1B | c.276G>T (p.Leu92=) n.36+1049G>T | dbSNP gnomAD v2 |
| 1 | g.206116615C= | CA2482862271 | AVPR1B | c.276G= (p.Leu92=) n.36+1049G= | |
| 1 | g.206116615C>G | CA423132292 | AVPR1B | c.276G>C (p.Leu92=) n.36+1049G>C | |
| 1 | g.206116615C>T | CA423132293 | AVPR1B | c.276G>A (p.Leu92=) n.36+1049G>A | dbSNP |
| 1 | g.206116616A>C | CA344455716 | AVPR1B | c.275T>G (p.Leu92Arg) n.36+1048T>G | |
| 1 | g.206116616A>G | CA344455717 | AVPR1B | c.275T>C (p.Leu92Pro) n.36+1048T>C | gnomAD v4 |
| 1 | g.206116616A>T | CA344455721 | AVPR1B | c.275T>A (p.Leu92Gln) n.36+1048T>A | |
| 1 | g.206116617G>A | CA423132297 | AVPR1B | c.274C>T (p.Leu92=) n.36+1047C>T | |
| 1 | g.206116617G>C | CA1359261 | AVPR1B | c.274C>G (p.Leu92Val) n.36+1047C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116617G= | CA2482862272 | AVPR1B | c.274C= (p.Leu92=) n.36+1047C= | |
| 1 | g.206116617G>T | CA344455726 | AVPR1B | c.274C>A (p.Leu92Met) n.36+1047C>A | |
| 1 | g.206116618C>A | CA36510977 | AVPR1B | c.273G>T (p.Gln91His) n.36+1046G>T | |
| 1 | g.206116618C= | CA2482862273 | AVPR1B | c.273G= (p.Gln91=) n.36+1046G= | |
| 1 | g.206116618C>G | CA36510984 | AVPR1B | c.273G>C (p.Gln91His) n.36+1046G>C | |
| 1 | g.206116618C>T | CA1359260 | AVPR1B | c.273G>A (p.Gln91=) n.36+1046G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |