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.206116714C>A | CA423132469 | AVPR1B | c.177G>T (p.Leu59=) n.36+950G>T | |
| 1 | g.206116714C>G | CA423132465 | AVPR1B | c.177G>C (p.Leu59=) n.36+950G>C | |
| 1 | g.206116714C>T | CA423132467 | AVPR1B | c.177G>A (p.Leu59=) n.36+950G>A | |
| 1 | g.206116715A= | CA2482862314 | AVPR1B | c.176T= (p.Leu59=) n.36+949T= | |
| 1 | g.206116715A>C | CA36511183 | AVPR1B | c.176T>G (p.Leu59Arg) n.36+949T>G | gnomAD v4 |
| 1 | g.206116715A>G | CA1359228 | AVPR1B | c.176T>C (p.Leu59Pro) n.36+949T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116715A>T | CA36511187 | AVPR1B | c.176T>A (p.Leu59Gln) n.36+949T>A | gnomAD v4 |
| 1 | g.206116716G>A | CA423132470 | AVPR1B | c.175C>T (p.Leu59=) n.36+948C>T | |
| 1 | g.206116716G>C | CA344456277 | AVPR1B | c.175C>G (p.Leu59Val) n.36+948C>G | |
| 1 | g.206116716G>T | CA344456279 | AVPR1B | c.175C>A (p.Leu59Met) n.36+948C>A | |
| 1 | g.206116717G>A | CA423132471 | AVPR1B | c.174C>T (p.Thr58=) n.36+947C>T | |
| 1 | g.206116717G>C | CA423132473 | AVPR1B | c.174C>G (p.Thr58=) n.36+947C>G | |
| 1 | g.206116717G>T | CA423132476 | AVPR1B | c.174C>A (p.Thr58=) n.36+947C>A | |
| 1 | g.206116718G>A | CA1359226 | AVPR1B | c.173C>T (p.Thr58Ile) n.36+946C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116718G>C | CA344456282 | AVPR1B | c.173C>G (p.Thr58Ser) n.36+946C>G | |
| 1 | g.206116718G= | CA2482862315 | AVPR1B | c.173C= (p.Thr58=) n.36+946C= | |
| 1 | g.206116718G>T | CA1359227 | AVPR1B | c.173C>A (p.Thr58Asn) n.36+946C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116719T>A | CA344456290 | AVPR1B | c.172A>T (p.Thr58Ser) n.36+945A>T | |
| 1 | g.206116719T>C | CA344456288 | AVPR1B | c.172A>G (p.Thr58Ala) n.36+945A>G | |
| 1 | g.206116719T>G | CA344456289 | AVPR1B | c.172A>C (p.Thr58Pro) n.36+945A>C | |
| 1 | g.206116720C>A | CA423132482 | AVPR1B | c.171G>T (p.Leu57=) n.36+944G>T | gnomAD v4 |
| 1 | g.206116720C>G | CA423132483 | AVPR1B | c.171G>C (p.Leu57=) n.36+944G>C | |
| 1 | g.206116720C>T | CA423132485 | AVPR1B | c.171G>A (p.Leu57=) n.36+944G>A | |
| 1 | g.206116721A>C | CA344456291 | AVPR1B | c.170T>G (p.Leu57Arg) n.36+943T>G | |
| 1 | g.206116721A>G | CA344456292 | AVPR1B | c.170T>C (p.Leu57Pro) n.36+943T>C | |
| 1 | g.206116721A>T | CA344456293 | AVPR1B | c.170T>A (p.Leu57Gln) n.36+943T>A | |
| 1 | g.206116722G>A | CA423132486 | AVPR1B | c.169C>T (p.Leu57=) n.36+942C>T | |
| 1 | g.206116722G>C | CA344456295 | AVPR1B | c.169C>G (p.Leu57Val) n.36+942C>G | |
| 1 | g.206116722G>T | CA344456298 | AVPR1B | c.169C>A (p.Leu57Met) n.36+942C>A | gnomAD v4 |
| 1 | g.206116723C>A | CA423132495 | AVPR1B | c.168G>T (p.Leu56=) n.36+941G>T | |
| 1 | g.206116723C>G | CA423132488 | AVPR1B | c.168G>C (p.Leu56=) n.36+941G>C | |
| 1 | g.206116723C>T | CA423132491 | AVPR1B | c.168G>A (p.Leu56=) n.36+941G>A | |
| 1 | g.206116724A>C | CA344456302 | AVPR1B | c.167T>G (p.Leu56Arg) n.36+940T>G | |
| 1 | g.206116724A>G | CA344456303 | AVPR1B | c.167T>C (p.Leu56Pro) n.36+940T>C | |
| 1 | g.206116724A>T | CA344456305 | AVPR1B | c.167T>A (p.Leu56Gln) n.36+940T>A | |
| 1 | g.206116725G>A | CA423132496 | AVPR1B | c.166C>T (p.Leu56=) n.36+939C>T | |
| 1 | g.206116725G>C | CA344456307 | AVPR1B | c.166C>G (p.Leu56Val) n.36+939C>G | |
| 1 | g.206116725G>T | CA344456309 | AVPR1B | c.166C>A (p.Leu56Met) n.36+939C>A | |
| 1 | g.206116726C>A | CA423132498 | AVPR1B | c.165G>T (p.Val55=) n.36+938G>T | |
| 1 | g.206116726C>G | CA423132499 | AVPR1B | c.165G>C (p.Val55=) n.36+938G>C | |
| 1 | g.206116726C>T | CA423132501 | AVPR1B | c.165G>A (p.Val55=) n.36+938G>A | gnomAD v4 |
| 1 | g.206116727A>C | CA344456313 | AVPR1B | c.164T>G (p.Val55Gly) n.36+937T>G | |
| 1 | g.206116727A>G | CA344456316 | AVPR1B | c.164T>C (p.Val55Ala) n.36+937T>C | |
| 1 | g.206116727A>T | CA344456318 | AVPR1B | c.164T>A (p.Val55Glu) n.36+937T>A | |
| 1 | g.206116728C>A | CA344456323 | AVPR1B | c.163G>T (p.Val55Leu) n.36+936G>T | |
| 1 | g.206116728C= | CA2482862316 | AVPR1B | c.163G= (p.Val55=) n.36+936G= | |
| 1 | g.206116728C>G | CA344456325 | AVPR1B | c.163G>C (p.Val55Leu) n.36+936G>C | |
| 1 | g.206116728C>T | CA1359225 | AVPR1B | c.163G>A (p.Val55Met) n.36+936G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116729A>C | CA423132506 | AVPR1B | c.162T>G (p.Ala54=) n.36+935T>G | |
| 1 | g.206116729A>G | CA423132507 | AVPR1B | c.162T>C (p.Ala54=) n.36+935T>C | gnomAD v4 |
| 1 | g.206116729A>T | CA423132508 | AVPR1B | c.162T>A (p.Ala54=) n.36+935T>A | |
| 1 | g.206116730G>A | CA344456328 | AVPR1B | c.161C>T (p.Ala54Val) n.36+934C>T | dbSNP |
| 1 | g.206116730G>C | CA344456333 | AVPR1B | c.161C>G (p.Ala54Gly) n.36+934C>G | |
| 1 | g.206116730G>T | CA344456330 | AVPR1B | c.161C>A (p.Ala54Asp) n.36+934C>A | gnomAD v4 |
| 1 | g.206116731C>A | CA344456334 | AVPR1B | c.160G>T (p.Ala54Ser) n.36+933G>T | |
| 1 | g.206116731C>G | CA344456338 | AVPR1B | c.160G>C (p.Ala54Pro) n.36+933G>C | |
| 1 | g.206116731C>T | CA344456339 | AVPR1B | c.160G>A (p.Ala54Thr) n.36+933G>A | |
| 1 | g.206116732C>A | CA423132511 | AVPR1B | c.159G>T (p.Leu53=) n.36+932G>T | |
| 1 | g.206116732C>G | CA423132510 | AVPR1B | c.159G>C (p.Leu53=) n.36+932G>C | |
| 1 | g.206116732C>T | CA423132509 | AVPR1B | c.159G>A (p.Leu53=) n.36+932G>A | |
| 1 | g.206116733A= | CA2482862318 | AVPR1B | c.158T= (p.Leu53=) n.36+931T= | |
| 1 | g.206116733A>C | CA344456346 | AVPR1B | c.158T>G (p.Leu53Arg) n.36+931T>G | |
| 1 | g.206116733A>G | CA344456348 | AVPR1B | c.158T>C (p.Leu53Pro) n.36+931T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116733A>T | CA344456350 | AVPR1B | c.158T>A (p.Leu53Gln) n.36+931T>A | |
| 1 | g.206116733_206116734delinsAG | CA2482862317 | AVPR1B | c.157_158delinsCT (p.Leu53=) n.36+930_36+931delinsCT | |
| 1 | g.206116734G>A | CA423132512 | AVPR1B | c.157C>T (p.Leu53=) n.36+930C>T | |
| 1 | g.206116734G>C | CA344456352 | AVPR1B | c.157C>G (p.Leu53Val) n.36+930C>G | |
| 1 | g.206116734G>T | CA344456353 | AVPR1B | c.157C>A (p.Leu53Met) n.36+930C>A | |
| 1 | g.206116735del | CA730518959 | AVPR1B | c.157del (p.Leu53TrpfsTer5) n.36+930del | dbSNP |
| 1 | g.206116735G>A | CA423132517 | AVPR1B | c.156C>T (p.Asn52=) n.36+929C>T | gnomAD v4 |
| 1 | g.206116735G>C | CA344456355 | AVPR1B | c.156C>G (p.Asn52Lys) n.36+929C>G | |
| 1 | g.206116735G>T | CA344456357 | AVPR1B | c.156C>A (p.Asn52Lys) n.36+929C>A | |
| 1 | g.206116736T>A | CA36511203 | AVPR1B | c.155A>T (p.Asn52Ile) n.36+928A>T | |
| 1 | g.206116736T>C | CA344456359 | AVPR1B | c.155A>G (p.Asn52Ser) n.36+928A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116736T>G | CA36511205 | AVPR1B | c.155A>C (p.Asn52Thr) n.36+928A>C | |
| 1 | g.206116736T= | CA2482862319 | AVPR1B | c.155A= (p.Asn52=) n.36+928A= | |
| 1 | g.206116737T>A | CA344456364 | AVPR1B | c.154A>T (p.Asn52Tyr) n.36+927A>T | |
| 1 | g.206116737T>C | CA344456365 | AVPR1B | c.154A>G (p.Asn52Asp) n.36+927A>G | |
| 1 | g.206116737T>G | CA344456366 | AVPR1B | c.154A>C (p.Asn52His) n.36+927A>C | |
| 1 | g.206116738G>A | CA36511211 | AVPR1B | c.153C>T (p.Gly51=) n.36+926C>T | dbSNP |
| 1 | g.206116738G>C | CA423132523 | AVPR1B | c.153C>G (p.Gly51=) n.36+926C>G | |
| 1 | g.206116738G= | CA2482862320 | AVPR1B | c.153C= (p.Gly51=) n.36+926C= | |
| 1 | g.206116738G>T | CA423132524 | AVPR1B | c.153C>A (p.Gly51=) n.36+926C>A | gnomAD v4 |
| 1 | g.206116739C>A | CA344456367 | AVPR1B | c.152G>T (p.Gly51Val) n.36+925G>T | |
| 1 | g.206116739C= | CA2482862321 | AVPR1B | c.152G= (p.Gly51=) n.36+925G= | |
| 1 | g.206116739C>G | CA344456368 | AVPR1B | c.152G>C (p.Gly51Ala) n.36+925G>C | |
| 1 | g.206116739C>T | CA344456369 | AVPR1B | c.152G>A (p.Gly51Asp) n.36+925G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116743del | CA2574120021 | AVPR1B | c.152del (p.Gly51AlafsTer7) n.36+925del | gnomAD v4 |
| 1 | g.206116740C>A | CA344456371 | AVPR1B | c.151G>T (p.Gly51Cys) n.36+924G>T | |
| 1 | g.206116740C= | CA2482862322 | AVPR1B | c.151G= (p.Gly51=) n.36+924G= | |
| 1 | g.206116740C>G | CA344456373 | AVPR1B | c.151G>C (p.Gly51Arg) n.36+924G>C | |
| 1 | g.206116740C>T | CA344456376 | AVPR1B | c.151G>A (p.Gly51Ser) n.36+924G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116741C>A | CA344456379 | AVPR1B | c.150G>T (p.Gly50=) n.36+923G>T | |
| 1 | g.206116741C= | CA1141698314 | AVPR1B | c.150G= (p.Gly50=) n.36+923G= | |
| 1 | g.206116741C>G | CA344456382 | AVPR1B | c.150G>C (p.Gly50=) n.36+923G>C | |
| 1 | g.206116741C>T | CA1359224 | AVPR1B | c.150G>A (p.Gly50=) n.36+923G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116742C>A | CA344456384 | AVPR1B | c.149G>T (p.Gly50Val) n.36+922G>T | |
| 1 | g.206116742C>G | CA344456385 | AVPR1B | c.149G>C (p.Gly50Ala) n.36+922G>C | |
| 1 | g.206116742C>T | CA344456383 | AVPR1B | c.149G>A (p.Gly50Glu) n.36+922G>A | |
| 1 | g.206116743C>A | CA344456387 | AVPR1B | c.148G>T (p.Gly50Trp) n.36+921G>T | gnomAD v4 |
| 1 | g.206116743C>G | CA344456390 | AVPR1B | c.148G>C (p.Gly50Arg) n.36+921G>C | |
| 1 | g.206116743C>T | CA344456395 | AVPR1B | c.148G>A (p.Gly50Arg) n.36+921G>A | gnomAD v4 |
| 1 | g.206116744G>A | CA1359223 | AVPR1B | c.147C>T (p.Thr49=) n.36+920C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116744G>C | CA344456398 | AVPR1B | c.147C>G (p.Thr49=) n.36+920C>G | dbSNP gnomAD v4 |
| 1 | g.206116744G= | CA2482862323 | AVPR1B | c.147C= (p.Thr49=) n.36+920C= | |
| 1 | g.206116744G>T | CA344456399 | AVPR1B | c.147C>A (p.Thr49=) n.36+920C>A | |
| 1 | g.206116745G>A | CA344456406 | AVPR1B | c.146C>T (p.Thr49Ile) n.36+919C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116745G>C | CA344456404 | AVPR1B | c.146C>G (p.Thr49Ser) n.36+919C>G | |
| 1 | g.206116745G= | CA2482862324 | AVPR1B | c.146C= (p.Thr49=) n.36+919C= | |
| 1 | g.206116745G>T | CA344456402 | AVPR1B | c.146C>A (p.Thr49Asn) n.36+919C>A | |
| 1 | g.206116746T>A | CA344456408 | AVPR1B | c.145A>T (p.Thr49Ser) n.36+918A>T | |
| 1 | g.206116746T>C | CA344456410 | AVPR1B | c.145A>G (p.Thr49Ala) n.36+918A>G | |
| 1 | g.206116746T>G | CA344456412 | AVPR1B | c.145A>C (p.Thr49Pro) n.36+918A>C | |
| 1 | g.206116746_206116747insTTTTTTTTTTAATGATA | CA2747478874 | AVPR1B | c.144_145insTATCATTAAAAAAAAAA (p.Thr49TyrfsTer3) n.36+917_36+918insTATCATTAAAAAAAAAA | |
| 1 | g.206116747C>A | CA423132532 | AVPR1B | c.144G>T (p.Ala48=) n.36+917G>T | gnomAD v4 |
| 1 | g.206116747C= | CA2482862325 | AVPR1B | c.144G= (p.Ala48=) n.36+917G= | |
| 1 | g.206116747C>G | CA423132534 | AVPR1B | c.144G>C (p.Ala48=) n.36+917G>C | |
| 1 | g.206116747C>T | CA423132535 | AVPR1B | c.144G>A (p.Ala48=) n.36+917G>A | dbSNP gnomAD v4 |
| 1 | g.206116748G>A | CA1359222 | AVPR1B | c.143C>T (p.Ala48Val) n.36+916C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116748G>C | CA36511216 | AVPR1B | c.143C>G (p.Ala48Gly) n.36+916C>G | gnomAD v4 |
| 1 | g.206116748G= | CA1146341019 | AVPR1B | c.143C= (p.Ala48=) n.36+916C= | |
| 1 | g.206116748G>T | CA36511228 | AVPR1B | c.143C>A (p.Ala48Glu) n.36+916C>A | |
| 1 | g.206116749C>A | CA344456419 | AVPR1B | c.142G>T (p.Ala48Ser) n.36+915G>T | |
| 1 | g.206116749C>G | CA344456423 | AVPR1B | c.142G>C (p.Ala48Pro) n.36+915G>C | |
| 1 | g.206116749C>T | CA344456421 | AVPR1B | c.142G>A (p.Ala48Thr) n.36+915G>A | |
| 1 | g.206116749_206116751del | CA2747478875 | AVPR1B | c.140_142del (p.Leu47_Ala48delinsPro) n.36+913_36+915del | |
| 1 | g.206116750C>A | CA423132539 | AVPR1B | c.141G>T (p.Leu47=) n.36+914G>T | |
| 1 | g.206116750C>G | CA423132537 | AVPR1B | c.141G>C (p.Leu47=) n.36+914G>C | |
| 1 | g.206116750C>T | CA423132538 | AVPR1B | c.141G>A (p.Leu47=) n.36+914G>A | |
| 1 | g.206116751A>C | CA344456426 | AVPR1B | c.140T>G (p.Leu47Arg) n.36+913T>G | |
| 1 | g.206116751A>G | CA344456429 | AVPR1B | c.140T>C (p.Leu47Pro) n.36+913T>C | gnomAD v4 |
| 1 | g.206116751A>T | CA344456432 | AVPR1B | c.140T>A (p.Leu47Gln) n.36+913T>A | |
| 1 | g.206116752G>A | CA423132540 | AVPR1B | c.139C>T (p.Leu47=) n.36+912C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116752G>C | CA344456435 | AVPR1B | c.139C>G (p.Leu47Val) n.36+912C>G | |
| 1 | g.206116752G= | CA2482862326 | AVPR1B | c.139C= (p.Leu47=) n.36+912C= | |
| 1 | g.206116752G>T | CA344456437 | AVPR1B | c.139C>A (p.Leu47Met) n.36+912C>A | |
| 1 | g.206116753C>A | CA423132542 | AVPR1B | c.138G>T (p.Val46=) n.36+911G>T | gnomAD v4 |
| 1 | g.206116753C>G | CA423132543 | AVPR1B | c.138G>C (p.Val46=) n.36+911G>C | |
| 1 | g.206116753C>T | CA423132544 | AVPR1B | c.138G>A (p.Val46=) n.36+911G>A | |
| 1 | g.206116753_206116754insG | CA2747478876 | AVPR1B | c.137_138insC (p.Leu47AlafsTer?) n.36+910_36+911insC | |
| 1 | g.206116754A>C | CA344456440 | AVPR1B | c.137T>G (p.Val46Gly) n.36+910T>G | |
| 1 | g.206116754A>G | CA344456442 | AVPR1B | c.137T>C (p.Val46Ala) n.36+910T>C | gnomAD v4 |
| 1 | g.206116754A>T | CA344456445 | AVPR1B | c.137T>A (p.Val46Glu) n.36+910T>A | |
| 1 | g.206116755C>A | CA344456448 | AVPR1B | c.136G>T (p.Val46Leu) n.36+909G>T | |
| 1 | g.206116755C= | CA1143571203 | AVPR1B | c.136G= (p.Val46=) n.36+909G= | |
| 1 | g.206116755C>G | CA36511233 | AVPR1B | c.136G>C (p.Val46Leu) n.36+909G>C | dbSNP |
| 1 | g.206116755C>T | CA344456451 | AVPR1B | c.136G>A (p.Val46Met) n.36+909G>A | gnomAD v4 |
| 1 | g.206116756C>A | CA423132546 | AVPR1B | c.135G>T (p.Leu45=) n.36+908G>T | dbSNP gnomAD v4 |
| 1 | g.206116756C= | CA2482862327 | AVPR1B | c.135G= (p.Leu45=) n.36+908G= | |
| 1 | g.206116756C>G | CA423132547 | AVPR1B | c.135G>C (p.Leu45=) n.36+908G>C | |
| 1 | g.206116756C>T | CA423132548 | AVPR1B | c.135G>A (p.Leu45=) n.36+908G>A | |
| 1 | g.206116757A= | CA2482862328 | AVPR1B | c.134T= (p.Leu45=) n.36+907T= | |
| 1 | g.206116757A>C | CA36511238 | AVPR1B | c.134T>G (p.Leu45Arg) n.36+907T>G | |
| 1 | g.206116757A>G | CA344456454 | AVPR1B | c.134T>C (p.Leu45Pro) n.36+907T>C | dbSNP gnomAD v4 |
| 1 | g.206116757A>T | CA36511240 | AVPR1B | c.134T>A (p.Leu45Gln) n.36+907T>A | |
| 1 | g.206116758G>A | CA423132549 | AVPR1B | c.133C>T (p.Leu45=) n.36+906C>T | |
| 1 | g.206116758G>C | CA344456457 | AVPR1B | c.133C>G (p.Leu45Val) n.36+906C>G | |
| 1 | g.206116758G>T | CA344456458 | AVPR1B | c.133C>A (p.Leu45Met) n.36+906C>A | gnomAD v4 |
| 1 | g.206116758_206116766del | CA2747478877 | AVPR1B | c.125_133del (p.Ala42_Leu45delinsVal) n.36+898_36+906del | |
| 1 | g.206116759G>A | CA1359221 | AVPR1B | c.132C>T (p.Val44=) n.36+905C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116759G>C | CA1359220 | AVPR1B | c.132C>G (p.Val44=) n.36+905C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116759G= | CA1144841346 | AVPR1B | c.132C= (p.Val44=) n.36+905C= | |
| 1 | g.206116759G>T | CA344456460 | AVPR1B | c.132C>A (p.Val44=) n.36+905C>A | |
| 1 | g.206116760A= | CA2482862329 | AVPR1B | c.131T= (p.Val44=) n.36+904T= | |
| 1 | g.206116760A>C | CA344456461 | AVPR1B | c.131T>G (p.Val44Gly) n.36+904T>G | |
| 1 | g.206116760A>G | CA344456462 | AVPR1B | c.131T>C (p.Val44Ala) n.36+904T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116760A>T | CA344456464 | AVPR1B | c.131T>A (p.Val44Asp) n.36+904T>A | |
| 1 | g.206116761C>A | CA344456471 | AVPR1B | c.130G>T (p.Val44Phe) n.36+903G>T | |
| 1 | g.206116761C>G | CA344456474 | AVPR1B | c.130G>C (p.Val44Leu) n.36+903G>C | gnomAD v4 |
| 1 | g.206116761C>T | CA344456477 | AVPR1B | c.130G>A (p.Val44Ile) n.36+903G>A | |
| 1 | g.206116762A>C | CA423132556 | AVPR1B | c.129T>G (p.Thr43=) n.36+902T>G | |
| 1 | g.206116762A>G | CA423132558 | AVPR1B | c.129T>C (p.Thr43=) n.36+902T>C | |
| 1 | g.206116762A>T | CA423132559 | AVPR1B | c.129T>A (p.Thr43=) n.36+902T>A | |
| 1 | g.206116763G>A | CA344456480 | AVPR1B | c.128C>T (p.Thr43Ile) n.36+901C>T | |
| 1 | g.206116763G>C | CA344456481 | AVPR1B | c.128C>G (p.Thr43Ser) n.36+901C>G | |
| 1 | g.206116763G>T | CA344456482 | AVPR1B | c.128C>A (p.Thr43Asn) n.36+901C>A | |
| 1 | g.206116764T>A | CA344456489 | AVPR1B | c.127A>T (p.Thr43Ser) n.36+900A>T | dbSNP gnomAD v4 |
| 1 | g.206116764T>C | CA344456487 | AVPR1B | c.127A>G (p.Thr43Ala) n.36+900A>G | |
| 1 | g.206116764T>G | CA344456484 | AVPR1B | c.127A>C (p.Thr43Pro) n.36+900A>C | |
| 1 | g.206116764T= | CA2482862330 | AVPR1B | c.127A= (p.Thr43=) n.36+900A= | |
| 1 | g.206116765G>A | CA423132560 | AVPR1B | c.126C>T (p.Ala42=) n.36+899C>T | |
| 1 | g.206116765G>C | CA423132561 | AVPR1B | c.126C>G (p.Ala42=) n.36+899C>G | |
| 1 | g.206116765G>T | CA423132562 | AVPR1B | c.126C>A (p.Ala42=) n.36+899C>A | |
| 1 | g.206116766G>A | CA344456491 | AVPR1B | c.125C>T (p.Ala42Val) n.36+898C>T | |
| 1 | g.206116766G>C | CA344456493 | AVPR1B | c.125C>G (p.Ala42Gly) n.36+898C>G | |
| 1 | g.206116766G>T | CA344456494 | AVPR1B | c.125C>A (p.Ala42Asp) n.36+898C>A | gnomAD v4 |
| 1 | g.206116767C>A | CA344456495 | AVPR1B | c.124G>T (p.Ala42Ser) n.36+897G>T | |
| 1 | g.206116767C>G | CA344456496 | AVPR1B | c.124G>C (p.Ala42Pro) n.36+897G>C | |
| 1 | g.206116767C>T | CA344456498 | AVPR1B | c.124G>A (p.Ala42Thr) n.36+897G>A | |
| 1 | g.206116768C>A | CA423132568 | AVPR1B | c.123G>T (p.Leu41=) n.36+896G>T | |
| 1 | g.206116768C>G | CA423132565 | AVPR1B | c.123G>C (p.Leu41=) n.36+896G>C | |
| 1 | g.206116768C>T | CA423132564 | AVPR1B | c.123G>A (p.Leu41=) n.36+896G>A | gnomAD v4 |
| 1 | g.206116769A= | CA2482862331 | AVPR1B | c.122T= (p.Leu41=) n.36+895T= | |
| 1 | g.206116769A>C | CA344456501 | AVPR1B | c.122T>G (p.Leu41Arg) n.36+895T>G | |
| 1 | g.206116769A>G | CA344456503 | AVPR1B | c.122T>C (p.Leu41Pro) n.36+895T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.206116769A>T | CA344456504 | AVPR1B | c.122T>A (p.Leu41Gln) n.36+895T>A | |
| 1 | g.206116769_206116770del | CA2747478878 | AVPR1B | c.121_122del (p.Leu41GlyfsTer?) n.36+894_36+895del | |
| 1 | g.206116770G>A | CA423132569 | AVPR1B | c.121C>T (p.Leu41=) n.36+894C>T | gnomAD v4 COSMIC |
| 1 | g.206116770G>C | CA344456506 | AVPR1B | c.121C>G (p.Leu41Val) n.36+894C>G | gnomAD v4 |
| 1 | g.206116770G>T | CA344456507 | AVPR1B | c.121C>A (p.Leu41Met) n.36+894C>A | |
| 1 | g.206116771G>A | CA423132570 | AVPR1B | c.120C>T (p.Val40=) n.36+893C>T | |
| 1 | g.206116771G>C | CA423132572 | AVPR1B | c.120C>G (p.Val40=) n.36+893C>G | |
| 1 | g.206116771G= | CA2482862332 | AVPR1B | c.120C= (p.Val40=) n.36+893C= | |
| 1 | g.206116771G>T | CA423132574 | AVPR1B | c.120C>A (p.Val40=) n.36+893C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116772A>C | CA344456508 | AVPR1B | c.119T>G (p.Val40Gly) n.36+892T>G | |
| 1 | g.206116772A>G | CA344456509 | AVPR1B | c.119T>C (p.Val40Ala) n.36+892T>C | |
| 1 | g.206116772A>T | CA344456510 | AVPR1B | c.119T>A (p.Val40Asp) n.36+892T>A | |
| 1 | g.206116773C>A | CA344456512 | AVPR1B | c.118G>T (p.Val40Phe) n.36+891G>T | |
| 1 | g.206116773C= | CA2482862333 | AVPR1B | c.118G= (p.Val40=) n.36+891G= | |
| 1 | g.206116773C>G | CA36511246 | AVPR1B | c.118G>C (p.Val40Leu) n.36+891G>C | dbSNP |
| 1 | g.206116773C>T | CA344456511 | AVPR1B | c.118G>A (p.Val40Ile) n.36+891G>A | |
| 1 | g.206116773_206116776del | CA2747478879 | AVPR1B | c.115_118del (p.Gly39SerfsTer18) n.36+888_36+891del | |
| 1 | g.206116774T>A | CA423132576 | AVPR1B | c.117A>T (p.Gly39=) n.36+890A>T | gnomAD v4 |
| 1 | g.206116774T>C | CA423132577 | AVPR1B | c.117A>G (p.Gly39=) n.36+890A>G | |
| 1 | g.206116774T>G | CA423132578 | AVPR1B | c.117A>C (p.Gly39=) n.36+890A>C | |
| 1 | g.206116775C>A | CA344456521 | AVPR1B | c.116G>T (p.Gly39Val) n.36+889G>T | |
| 1 | g.206116775C>G | CA344456522 | AVPR1B | c.116G>C (p.Gly39Ala) n.36+889G>C | |
| 1 | g.206116775C>T | CA344456524 | AVPR1B | c.116G>A (p.Gly39Glu) n.36+889G>A | |
| 1 | g.206116775_206116776insATAAAAAGGCCCAAAGTACA | CA2650177478 | AVPR1B | c.115_116insTGTACTTTGGGCCTTTTTAT (p.Gly39ValfsTer26) n.36+888_36+889insTGTACTTTGGGCCTTTTTAT | gnomAD v4 |
| 1 | g.206116776C>A | CA344456526 | AVPR1B | c.115G>T (p.Gly39Ter) n.36+888G>T | |
| 1 | g.206116776C= | CA2482862334 | AVPR1B | c.115G= (p.Gly39=) n.36+888G= | |
| 1 | g.206116776C>G | CA344456527 | AVPR1B | c.115G>C (p.Gly39Arg) n.36+888G>C | |
| 1 | g.206116776C>T | CA344456530 | AVPR1B | c.115G>A (p.Gly39Arg) n.36+888G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116777G>A | CA423132579 | AVPR1B | c.114C>T (p.Ile38=) n.36+887C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116777G>C | CA1359219 | AVPR1B | c.114C>G (p.Ile38Met) n.36+887C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116777G= | CA2482862335 | AVPR1B | c.114C= (p.Ile38=) n.36+887C= | |
| 1 | g.206116777G>T | CA423132580 | AVPR1B | c.114C>A (p.Ile38=) n.36+887C>A | dbSNP |
| 1 | g.206116778A= | CA2482862336 | AVPR1B | c.113T= (p.Ile38=) n.36+886T= | |
| 1 | g.206116778A>C | CA344456544 | AVPR1B | c.113T>G (p.Ile38Ser) n.36+886T>G | |
| 1 | g.206116778A>G | CA36511268 | AVPR1B | c.113T>C (p.Ile38Thr) n.36+886T>C | dbSNP |
| 1 | g.206116778A>T | CA344456542 | AVPR1B | c.113T>A (p.Ile38Asn) n.36+886T>A | |
| 1 | g.206116779T>A | CA344456546 | AVPR1B | c.112A>T (p.Ile38Phe) n.36+885A>T | |
| 1 | g.206116779T>C | CA344456548 | AVPR1B | c.112A>G (p.Ile38Val) n.36+885A>G | |
| 1 | g.206116779T>G | CA344456550 | AVPR1B | c.112A>C (p.Ile38Leu) n.36+885A>C | |
| 1 | g.206116780C>A | CA344456552 | AVPR1B | c.111G>T (p.Glu37Asp) n.36+884G>T | gnomAD v4 |
| 1 | g.206116780C>G | CA344456554 | AVPR1B | c.111G>C (p.Glu37Asp) n.36+884G>C | |
| 1 | g.206116780C>T | CA423132581 | AVPR1B | c.111G>A (p.Glu37=) n.36+884G>A | gnomAD v4 |
| 1 | g.206116781T>A | CA344456556 | AVPR1B | c.110A>T (p.Glu37Val) n.36+883A>T | |
| 1 | g.206116781T>C | CA344456559 | AVPR1B | c.110A>G (p.Glu37Gly) n.36+883A>G | |
| 1 | g.206116781T>G | CA344456557 | AVPR1B | c.110A>C (p.Glu37Ala) n.36+883A>C | |
| 1 | g.206116782C>A | CA344456562 | AVPR1B | c.109G>T (p.Glu37Ter) n.36+882G>T | |
| 1 | g.206116782C= | CA2482862337 | AVPR1B | c.109G= (p.Glu37=) n.36+882G= | |
| 1 | g.206116782C>G | CA1359218 | AVPR1B | c.109G>C (p.Glu37Gln) n.36+882G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116782C>T | CA344456565 | AVPR1B | c.109G>A (p.Glu37Lys) n.36+882G>A | gnomAD v4 |
| 1 | g.206116783C>A | CA423132582 | AVPR1B | c.108G>T (p.Val36=) n.36+881G>T | |
| 1 | g.206116783C= | CA2482862338 | AVPR1B | c.108G= (p.Val36=) n.36+881G= | |
| 1 | g.206116783C>G | CA423132583 | AVPR1B | c.108G>C (p.Val36=) n.36+881G>C | |
| 1 | g.206116783C>T | CA423132584 | AVPR1B | c.108G>A (p.Val36=) n.36+881G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116784A>C | CA344456567 | AVPR1B | c.107T>G (p.Val36Gly) n.36+880T>G | |
| 1 | g.206116784A>G | CA344456568 | AVPR1B | c.107T>C (p.Val36Ala) n.36+880T>C | COSMIC |
| 1 | g.206116784A>T | CA344456569 | AVPR1B | c.107T>A (p.Val36Glu) n.36+880T>A | |
| 1 | g.206116785C>A | CA1359217 | AVPR1B | c.106G>T (p.Val36Leu) n.36+879G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116785C= | CA2482862339 | AVPR1B | c.106G= (p.Val36=) n.36+879G= | |
| 1 | g.206116785C>G | CA36511273 | AVPR1B | c.106G>C (p.Val36Leu) n.36+879G>C | |
| 1 | g.206116785C>T | CA36511274 | AVPR1B | c.106G>A (p.Val36Met) n.36+879G>A | |
| 1 | g.206116786C>A | CA344456570 | AVPR1B | c.105G>T (p.Lys35Asn) n.36+878G>T | |
| 1 | g.206116786C= | CA2482862340 | AVPR1B | c.105G= (p.Lys35=) n.36+878G= | |
| 1 | g.206116786C>G | CA344456571 | AVPR1B | c.105G>C (p.Lys35Asn) n.36+878G>C | |
| 1 | g.206116786C>T | CA423132585 | AVPR1B | c.105G>A (p.Lys35=) n.36+878G>A | dbSNP |
| 1 | g.206116787T>A | CA344456572 | AVPR1B | c.104A>T (p.Lys35Met) n.36+877A>T | |
| 1 | g.206116787T>C | CA344456574 | AVPR1B | c.104A>G (p.Lys35Arg) n.36+877A>G | |
| 1 | g.206116787T>G | CA344456573 | AVPR1B | c.104A>C (p.Lys35Thr) n.36+877A>C | |
| 1 | g.206116788T>A | CA36511284 | AVPR1B | c.103A>T (p.Lys35Ter) n.36+876A>T | |
| 1 | g.206116788T>C | CA36511300 | AVPR1B | c.103A>G (p.Lys35Glu) n.36+876A>G | gnomAD v4 |
| 1 | g.206116788T>G | CA1359216 | AVPR1B | c.103A>C (p.Lys35Gln) n.36+876A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116788T= | CA2482862341 | AVPR1B | c.103A= (p.Lys35=) n.36+876A= | |
| 1 | g.206116789G>A | CA423132586 | AVPR1B | c.102C>T (p.Ala34=) n.36+875C>T | |
| 1 | g.206116789G>C | CA423132587 | AVPR1B | c.102C>G (p.Ala34=) n.36+875C>G | |
| 1 | g.206116789G>T | CA423132588 | AVPR1B | c.102C>A (p.Ala34=) n.36+875C>A | gnomAD v4 |
| 1 | g.206116790G>A | CA344456577 | AVPR1B | c.101C>T (p.Ala34Val) n.36+874C>T | |
| 1 | g.206116790G>C | CA344456579 | AVPR1B | c.101C>G (p.Ala34Gly) n.36+874C>G | |
| 1 | g.206116790G>T | CA344456581 | AVPR1B | c.101C>A (p.Ala34Asp) n.36+874C>A | |
| 1 | g.206116791C>A | CA344456582 | AVPR1B | c.100G>T (p.Ala34Ser) n.36+873G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116791C= | CA2482862342 | AVPR1B | c.100G= (p.Ala34=) n.36+873G= | |
| 1 | g.206116791C>G | CA344456583 | AVPR1B | c.100G>C (p.Ala34Pro) n.36+873G>C | |
| 1 | g.206116791C>T | CA344456584 | AVPR1B | c.100G>A (p.Ala34Thr) n.36+873G>A | dbSNP |
| 1 | g.206116792C>A | CA423132589 | AVPR1B | c.99G>T (p.Leu33=) n.36+872G>T | |
| 1 | g.206116792C>G | CA423132590 | AVPR1B | c.99G>C (p.Leu33=) n.36+872G>C | |
| 1 | g.206116792C>T | CA423132591 | AVPR1B | c.99G>A (p.Leu33=) n.36+872G>A | |
| 1 | g.206116793A>C | CA344456586 | AVPR1B | c.98T>G (p.Leu33Arg) n.36+871T>G | |
| 1 | g.206116793A>G | CA344456588 | AVPR1B | c.98T>C (p.Leu33Pro) n.36+871T>C | gnomAD v4 |
| 1 | g.206116793A>T | CA344456589 | AVPR1B | c.98T>A (p.Leu33Gln) n.36+871T>A | |
| 1 | g.206116794G>A | CA423132592 | AVPR1B | c.97C>T (p.Leu33=) n.36+870C>T | gnomAD v4 |
| 1 | g.206116794G>C | CA344456590 | AVPR1B | c.97C>G (p.Leu33Val) n.36+870C>G | |
| 1 | g.206116794G>T | CA344456591 | AVPR1B | c.97C>A (p.Leu33Met) n.36+870C>A | gnomAD v4 |
| 1 | g.206116795C>A | CA344456595 | AVPR1B | c.96G>T (p.Glu32Asp) n.36+869G>T | gnomAD v4 |
| 1 | g.206116795C= | CA2482862343 | AVPR1B | c.96G= (p.Glu32=) n.36+869G= | |
| 1 | g.206116795C>G | CA344456594 | AVPR1B | c.96G>C (p.Glu32Asp) n.36+869G>C | |
| 1 | g.206116795C>T | CA36511305 | AVPR1B | c.96G>A (p.Glu32=) n.36+869G>A | dbSNP |
| 1 | g.206116796T>A | CA344456597 | AVPR1B | c.95A>T (p.Glu32Val) n.36+868A>T | |
| 1 | g.206116796T>C | CA344456599 | AVPR1B | c.95A>G (p.Glu32Gly) n.36+868A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116796T>G | CA344456601 | AVPR1B | c.95A>C (p.Glu32Ala) n.36+868A>C | |
| 1 | g.206116796T= | CA2482862344 | AVPR1B | c.95A= (p.Glu32=) n.36+868A= | |
| 1 | g.206116797C>A | CA344456603 | AVPR1B | c.94G>T (p.Glu32Ter) n.36+867G>T | |
| 1 | g.206116797C= | CA2482862345 | AVPR1B | c.94G= (p.Glu32=) n.36+867G= | |
| 1 | g.206116797C>G | CA344456605 | AVPR1B | c.94G>C (p.Glu32Gln) n.36+867G>C | |
| 1 | g.206116797C>T | CA344456606 | AVPR1B | c.94G>A (p.Glu32Lys) n.36+867G>A | dbSNP |
| 1 | g.206116798C>A | CA344456607 | AVPR1B | c.93G>T (p.Glu31Asp) n.36+866G>T | |
| 1 | g.206116798C>G | CA344456608 | AVPR1B | c.93G>C (p.Glu31Asp) n.36+866G>C | |
| 1 | g.206116798C>T | CA423132593 | AVPR1B | c.93G>A (p.Glu31=) n.36+866G>A | |
| 1 | g.206116799T>A | CA344456609 | AVPR1B | c.92A>T (p.Glu31Val) n.36+865A>T | |
| 1 | g.206116799T>C | CA344456610 | AVPR1B | c.92A>G (p.Glu31Gly) n.36+865A>G | |
| 1 | g.206116799T>G | CA344456611 | AVPR1B | c.92A>C (p.Glu31Ala) n.36+865A>C | |
| 1 | g.206116800C>A | CA344456614 | AVPR1B | c.91G>T (p.Glu31Ter) n.36+864G>T | |
| 1 | g.206116800C>G | CA344456613 | AVPR1B | c.91G>C (p.Glu31Gln) n.36+864G>C | |
| 1 | g.206116800C>T | CA344456612 | AVPR1B | c.91G>A (p.Glu31Lys) n.36+864G>A | gnomAD v4 |
| 1 | g.206116801A>C | CA344456616 | AVPR1B | c.90T>G (p.Asp30Glu) n.36+863T>G | |
| 1 | g.206116801A>G | CA423132594 | AVPR1B | c.90T>C (p.Asp30=) n.36+863T>C | |
| 1 | g.206116801A>T | CA344456618 | AVPR1B | c.90T>A (p.Asp30Glu) n.36+863T>A | |
| 1 | g.206116802T>A | CA344456619 | AVPR1B | c.89A>T (p.Asp30Val) n.36+862A>T | |
| 1 | g.206116802T>C | CA344456621 | AVPR1B | c.89A>G (p.Asp30Gly) n.36+862A>G | |
| 1 | g.206116802T>G | CA344456623 | AVPR1B | c.89A>C (p.Asp30Ala) n.36+862A>C | |
| 1 | g.206116803C>A | CA344456624 | AVPR1B | c.88G>T (p.Asp30Tyr) n.36+861G>T | |
| 1 | g.206116803C>G | CA344456625 | AVPR1B | c.88G>C (p.Asp30His) n.36+861G>C | |
| 1 | g.206116803C>T | CA344456626 | AVPR1B | c.88G>A (p.Asp30Asn) n.36+861G>A | gnomAD v4 |
| 1 | g.206116804C>A | CA423132595 | AVPR1B | c.87G>T (p.Arg29=) n.36+860G>T | gnomAD v4 |
| 1 | g.206116804C>G | CA423132596 | AVPR1B | c.87G>C (p.Arg29=) n.36+860G>C | |
| 1 | g.206116804C>T | CA423132597 | AVPR1B | c.87G>A (p.Arg29=) n.36+860G>A | |
| 1 | g.206116805C>A | CA344456627 | AVPR1B | c.86G>T (p.Arg29Leu) n.36+859G>T | |
| 1 | g.206116805C>G | CA344456629 | AVPR1B | c.86G>C (p.Arg29Pro) n.36+859G>C | gnomAD v4 |
| 1 | g.206116805C>T | CA344456630 | AVPR1B | c.86G>A (p.Arg29Gln) n.36+859G>A | gnomAD v4 |
| 1 | g.206116806G>A | CA344456632 | AVPR1B | c.85C>T (p.Arg29Trp) n.36+858C>T | gnomAD v4 |
| 1 | g.206116806G>C | CA344456633 | AVPR1B | c.85C>G (p.Arg29Gly) n.36+858C>G | |
| 1 | g.206116806G= | CA2482862346 | AVPR1B | c.85C= (p.Arg29=) n.36+858C= | |
| 1 | g.206116806G>T | CA423132598 | AVPR1B | c.85C>A (p.Arg29=) n.36+858C>A | dbSNP |
| 1 | g.206116813_206116883del | CA2509219158 | AVPR1B | c.15_85del (p.Leu6GlyfsTer2) n.36+788_36+858del | |
| 1 | g.206116807G>A | CA423132599 | AVPR1B | c.84C>T (p.Gly28=) n.36+857C>T | COSMIC |
| 1 | g.206116807G>C | CA423132600 | AVPR1B | c.84C>G (p.Gly28=) n.36+857C>G | |
| 1 | g.206116807G>T | CA423132601 | AVPR1B | c.84C>A (p.Gly28=) n.36+857C>A | |
| 1 | g.206116808C>A | CA344456641 | AVPR1B | c.83G>T (p.Gly28Val) n.36+856G>T | |
| 1 | g.206116808C= | CA2482862347 | AVPR1B | c.83G= (p.Gly28=) n.36+856G= | |
| 1 | g.206116808C>G | CA344456637 | AVPR1B | c.83G>C (p.Gly28Ala) n.36+856G>C | |
| 1 | g.206116808C>T | CA344456639 | AVPR1B | c.83G>A (p.Gly28Asp) n.36+856G>A | dbSNP |
| 1 | g.206116809C>A | CA344456646 | AVPR1B | c.82G>T (p.Gly28Cys) n.36+855G>T | |
| 1 | g.206116809C>G | CA344456648 | AVPR1B | c.82G>C (p.Gly28Arg) n.36+855G>C | |
| 1 | g.206116809C>T | CA344456650 | AVPR1B | c.82G>A (p.Gly28Ser) n.36+855G>A | |
| 1 | g.206116810C>A | CA423132605 | AVPR1B | c.81G>T (p.Leu27=) n.36+854G>T | |
| 1 | g.206116810C>G | CA423132604 | AVPR1B | c.81G>C (p.Leu27=) n.36+854G>C | |
| 1 | g.206116810C>T | CA423132603 | AVPR1B | c.81G>A (p.Leu27=) n.36+854G>A | |
| 1 | g.206116811A>C | CA344456652 | AVPR1B | c.80T>G (p.Leu27Arg) n.36+853T>G | |
| 1 | g.206116811A>G | CA344456654 | AVPR1B | c.80T>C (p.Leu27Pro) n.36+853T>C | |
| 1 | g.206116811A>T | CA344456656 | AVPR1B | c.80T>A (p.Leu27Gln) n.36+853T>A | COSMIC |
| 1 | g.206116812G>A | CA423132607 | AVPR1B | c.79C>T (p.Leu27=) n.36+852C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116812G>C | CA344456659 | AVPR1B | c.79C>G (p.Leu27Val) n.36+852C>G | |
| 1 | g.206116812G= | CA2482862348 | AVPR1B | c.79C= (p.Leu27=) n.36+852C= | |
| 1 | g.206116812G>T | CA344456661 | AVPR1B | c.79C>A (p.Leu27Met) n.36+852C>A | |
| 1 | g.206116813C>A | CA344456664 | AVPR1B | c.78G>T (p.Trp26Cys) n.36+851G>T | |
| 1 | g.206116813C>G | CA344456666 | AVPR1B | c.78G>C (p.Trp26Cys) n.36+851G>C | |
| 1 | g.206116813C>T | CA344456668 | AVPR1B | c.78G>A (p.Trp26Ter) n.36+851G>A | gnomAD v4 |
| 1 | g.206116814C>A | CA344456677 | AVPR1B | c.77G>T (p.Trp26Leu) n.36+850G>T | gnomAD v4 |
| 1 | g.206116814C>G | CA344456673 | AVPR1B | c.77G>C (p.Trp26Ser) n.36+850G>C | |
| 1 | g.206116814C>T | CA344456671 | AVPR1B | c.77G>A (p.Trp26Ter) n.36+850G>A | dbSNP |