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.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 |
| 1 | g.206116619T>A | CA344455737 | AVPR1B | c.272A>T (p.Gln91Leu) n.36+1045A>T | |
| 1 | g.206116619T>C | CA344455735 | AVPR1B | c.272A>G (p.Gln91Arg) n.36+1045A>G | |
| 1 | g.206116619T>G | CA344455736 | AVPR1B | c.272A>C (p.Gln91Pro) n.36+1045A>C | |
| 1 | g.206116620G>A | CA344455738 | AVPR1B | c.271C>T (p.Gln91Ter) n.36+1044C>T | |
| 1 | g.206116620G>C | CA344455739 | AVPR1B | c.271C>G (p.Gln91Glu) n.36+1044C>G | dbSNP |
| 1 | g.206116620G= | CA2482862274 | AVPR1B | c.271C= (p.Gln91=) n.36+1044C= | |
| 1 | g.206116620G>T | CA344455741 | AVPR1B | c.271C>A (p.Gln91Lys) n.36+1044C>A | gnomAD v4 |
| 1 | g.206116621T>A | CA344455743 | AVPR1B | c.270A>T (p.Pro90=) n.36+1043A>T | |
| 1 | g.206116621T>C | CA1359259 | AVPR1B | c.270A>G (p.Pro90=) n.36+1043A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116621T>G | CA344455744 | AVPR1B | c.270A>C (p.Pro90=) n.36+1043A>C | |
| 1 | g.206116621T= | CA1143528837 | AVPR1B | c.270A= (p.Pro90=) n.36+1043A= | |
| 1 | g.206116622G>A | CA344455746 | AVPR1B | c.269C>T (p.Pro90Leu) n.36+1042C>T | |
| 1 | g.206116622G>C | CA344455748 | AVPR1B | c.269C>G (p.Pro90Arg) n.36+1042C>G | |
| 1 | g.206116622G>T | CA344455750 | AVPR1B | c.269C>A (p.Pro90Gln) n.36+1042C>A | |
| 1 | g.206116623G>A | CA344455753 | AVPR1B | c.268C>T (p.Pro90Ser) n.36+1041C>T | COSMIC |
| 1 | g.206116623G>C | CA344455756 | AVPR1B | c.268C>G (p.Pro90Ala) n.36+1041C>G | |
| 1 | g.206116623G>T | CA344455759 | AVPR1B | c.268C>A (p.Pro90Thr) n.36+1041C>A | |
| 1 | g.206116623_206116624insGA | CA2747478873 | AVPR1B | c.267_268insTC (p.Pro90SerfsTer?) n.36+1040_36+1041insTC | |
| 1 | g.206116624C>A | CA423132299 | AVPR1B | c.267G>T (p.Leu89=) n.36+1040G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116624C= | CA2482862275 | AVPR1B | c.267G= (p.Leu89=) n.36+1040G= | |
| 1 | g.206116624C>G | CA423132300 | AVPR1B | c.267G>C (p.Leu89=) n.36+1040G>C | |
| 1 | g.206116624C>T | CA423132301 | AVPR1B | c.267G>A (p.Leu89=) n.36+1040G>A | dbSNP gnomAD v2 |
| 1 | g.206116625A= | CA2482862276 | AVPR1B | c.266T= (p.Leu89=) n.36+1039T= | |
| 1 | g.206116625A>C | CA344455765 | AVPR1B | c.266T>G (p.Leu89Arg) n.36+1039T>G | |
| 1 | g.206116625A>G | CA344455766 | AVPR1B | c.266T>C (p.Leu89Pro) n.36+1039T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116625A>T | CA344455762 | AVPR1B | c.266T>A (p.Leu89Gln) n.36+1039T>A | |
| 1 | g.206116626G>A | CA1359258 | AVPR1B | c.265C>T (p.Leu89=) n.36+1038C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116626G>C | CA36511001 | AVPR1B | c.265C>G (p.Leu89Val) n.36+1038C>G | |
| 1 | g.206116626G= | CA1145651474 | AVPR1B | c.265C= (p.Leu89=) n.36+1038C= | |
| 1 | g.206116626G>T | CA36511008 | AVPR1B | c.265C>A (p.Leu89Met) n.36+1038C>A | |
| 1 | g.206116627C>A | CA423132306 | AVPR1B | c.264G>T (p.Val88=) n.36+1037G>T | |
| 1 | g.206116627C>G | CA423132305 | AVPR1B | c.264G>C (p.Val88=) n.36+1037G>C | |
| 1 | g.206116627C>T | CA423132304 | AVPR1B | c.264G>A (p.Val88=) n.36+1037G>A | |
| 1 | g.206116628A>C | CA344455777 | AVPR1B | c.263T>G (p.Val88Gly) n.36+1036T>G | |
| 1 | g.206116628A>G | CA344455779 | AVPR1B | c.263T>C (p.Val88Ala) n.36+1036T>C | |
| 1 | g.206116628A>T | CA344455781 | AVPR1B | c.263T>A (p.Val88Glu) n.36+1036T>A | |
| 1 | g.206116628_206116629delinsAC | CA2482862277 | AVPR1B | c.262_263delinsGT (p.Val88=) n.36+1035_36+1036delinsGT | |
| 1 | g.206116629C>A | CA344455784 | AVPR1B | c.262G>T (p.Val88Leu) n.36+1035G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116629C= | CA1142014093 | AVPR1B | c.262G= (p.Val88=) n.36+1035G= | |
| 1 | g.206116629C>G | CA1359257 | AVPR1B | c.262G>C (p.Val88Leu) n.36+1035G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116629C>T | CA344455789 | AVPR1B | c.262G>A (p.Val88Met) n.36+1035G>A | |
| 1 | g.206116630del | CA730518696 | AVPR1B | c.262del (p.Val88CysfsTer?) n.36+1035del | dbSNP gnomAD v4 |
| 1 | g.206116630C>A | CA344455794 | AVPR1B | c.261G>T (p.Gln87His) n.36+1034G>T | |
| 1 | g.206116630C= | CA2482862278 | AVPR1B | c.261G= (p.Gln87=) n.36+1034G= | |
| 1 | g.206116630C>G | CA344455795 | AVPR1B | c.261G>C (p.Gln87His) n.36+1034G>C | |
| 1 | g.206116630C>T | CA423132307 | AVPR1B | c.261G>A (p.Gln87=) n.36+1034G>A | dbSNP |
| 1 | g.206116631T>A | CA344455799 | AVPR1B | c.260A>T (p.Gln87Leu) n.36+1033A>T | |
| 1 | g.206116631T>C | CA344455800 | AVPR1B | c.260A>G (p.Gln87Arg) n.36+1033A>G | |
| 1 | g.206116631T>G | CA344455803 | AVPR1B | c.260A>C (p.Gln87Pro) n.36+1033A>C | |
| 1 | g.206116632G>A | CA344455812 | AVPR1B | c.259C>T (p.Gln87Ter) n.36+1032C>T | |
| 1 | g.206116632G>C | CA344455809 | AVPR1B | c.259C>G (p.Gln87Glu) n.36+1032C>G | |
| 1 | g.206116632G>T | CA344455807 | AVPR1B | c.259C>A (p.Gln87Lys) n.36+1032C>A | COSMIC |
| 1 | g.206116633G>A | CA423132309 | AVPR1B | c.258C>T (p.Phe86=) n.36+1031C>T | gnomAD v4 |
| 1 | g.206116633G>C | CA344455817 | AVPR1B | c.258C>G (p.Phe86Leu) n.36+1031C>G | |
| 1 | g.206116633G>T | CA344455818 | AVPR1B | c.258C>A (p.Phe86Leu) n.36+1031C>A | |
| 1 | g.206116634A= | CA2482862279 | AVPR1B | c.257T= (p.Phe86=) n.36+1030T= | |
| 1 | g.206116634A>C | CA344455821 | AVPR1B | c.257T>G (p.Phe86Cys) n.36+1030T>G | gnomAD v4 |
| 1 | g.206116634A>G | CA344455824 | AVPR1B | c.257T>C (p.Phe86Ser) n.36+1030T>C | |
| 1 | g.206116634A>T | CA344455835 | AVPR1B | c.257T>A (p.Phe86Tyr) n.36+1030T>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116635A>C | CA344455840 | AVPR1B | c.256T>G (p.Phe86Val) n.36+1029T>G | |
| 1 | g.206116635A>G | CA344455843 | AVPR1B | c.256T>C (p.Phe86Leu) n.36+1029T>C | |
| 1 | g.206116635A>T | CA344455844 | AVPR1B | c.256T>A (p.Phe86Ile) n.36+1029T>A | |
| 1 | g.206116636G>A | CA423132314 | AVPR1B | c.255C>T (p.Leu85=) n.36+1028C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116636G>C | CA423132313 | AVPR1B | c.255C>G (p.Leu85=) n.36+1028C>G | |
| 1 | g.206116636G= | CA2482862280 | AVPR1B | c.255C= (p.Leu85=) n.36+1028C= | |
| 1 | g.206116636G>T | CA423132312 | AVPR1B | c.255C>A (p.Leu85=) n.36+1028C>A | |
| 1 | g.206116637A= | CA2482862281 | AVPR1B | c.254T= (p.Leu85=) n.36+1027T= | |
| 1 | g.206116637A>C | CA36511028 | AVPR1B | c.254T>G (p.Leu85Arg) n.36+1027T>G | |
| 1 | g.206116637A>G | CA1359256 | AVPR1B | c.254T>C (p.Leu85Pro) n.36+1027T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116637A>T | CA1359255 | AVPR1B | c.254T>A (p.Leu85His) n.36+1027T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116638G>A | CA1359254 | AVPR1B | c.253C>T (p.Leu85Phe) n.36+1026C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116638G>C | CA36511041 | AVPR1B | c.253C>G (p.Leu85Val) n.36+1026C>G | |
| 1 | g.206116638G= | CA2482862282 | AVPR1B | c.253C= (p.Leu85=) n.36+1026C= | |
| 1 | g.206116638G>T | CA36511048 | AVPR1B | c.253C>A (p.Leu85Ile) n.36+1026C>A | gnomAD v4 |
| 1 | g.206116639C>A | CA423132316 | AVPR1B | c.252G>T (p.Ala84=) n.36+1025G>T | |
| 1 | g.206116639C= | CA2482862283 | AVPR1B | c.252G= (p.Ala84=) n.36+1025G= | |
| 1 | g.206116639C>G | CA423132317 | AVPR1B | c.252G>C (p.Ala84=) n.36+1025G>C | |
| 1 | g.206116639C>T | CA423132318 | AVPR1B | c.252G>A (p.Ala84=) n.36+1025G>A | dbSNP gnomAD v4 COSMIC |
| 1 | g.206116640G>A | CA1359252 | AVPR1B | c.251C>T (p.Ala84Val) n.36+1024C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116640G>C | CA344455865 | AVPR1B | c.251C>G (p.Ala84Gly) n.36+1024C>G | |
| 1 | g.206116640G= | CA1141595244 | AVPR1B | c.251C= (p.Ala84=) n.36+1024C= | |
| 1 | g.206116640G>T | CA1359253 | AVPR1B | c.251C>A (p.Ala84Glu) n.36+1024C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116641C>A | CA344455868 | AVPR1B | c.250G>T (p.Ala84Ser) n.36+1023G>T | |
| 1 | g.206116641C>G | CA344455871 | AVPR1B | c.250G>C (p.Ala84Pro) n.36+1023G>C | |
| 1 | g.206116641C>T | CA344455873 | AVPR1B | c.250G>A (p.Ala84Thr) n.36+1023G>A | |
| 1 | g.206116642dup | CA2482862284 | AVPR1B | c.250dup (p.Ala84GlyfsTer?) n.36+1023dup | dbSNP |
| 1 | g.206116642C>A | CA423132319 | AVPR1B | c.249G>T (p.Val83=) n.36+1022G>T | |
| 1 | g.206116642C>G | CA423132320 | AVPR1B | c.249G>C (p.Val83=) n.36+1022G>C | |
| 1 | g.206116642C>T | CA423132321 | AVPR1B | c.249G>A (p.Val83=) n.36+1022G>A | gnomAD v4 |
| 1 | g.206116643A= | CA2482862285 | AVPR1B | c.248T= (p.Val83=) n.36+1021T= | |
| 1 | g.206116643A>C | CA344455876 | AVPR1B | c.248T>G (p.Val83Gly) n.36+1021T>G | |
| 1 | g.206116643A>G | CA344455879 | AVPR1B | c.248T>C (p.Val83Ala) n.36+1021T>C | dbSNP gnomAD v4 |
| 1 | g.206116643A>T | CA344455882 | AVPR1B | c.248T>A (p.Val83Glu) n.36+1021T>A | |
| 1 | g.206116644C>A | CA344455889 | AVPR1B | c.247G>T (p.Val83Leu) n.36+1020G>T | |
| 1 | g.206116644C= | CA2482862286 | AVPR1B | c.247G= (p.Val83=) n.36+1020G= | |
| 1 | g.206116644C>G | CA344455885 | AVPR1B | c.247G>C (p.Val83Leu) n.36+1020G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116644C>T | CA344455887 | AVPR1B | c.247G>A (p.Val83Met) n.36+1020G>A | gnomAD v4 |
| 1 | g.206116645G>A | CA1359251 | AVPR1B | c.246C>T (p.Ala82=) n.36+1019C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116645G>C | CA36511051 | AVPR1B | c.246C>G (p.Ala82=) n.36+1019C>G | |
| 1 | g.206116645G= | CA2482862287 | AVPR1B | c.246C= (p.Ala82=) n.36+1019C= | |
| 1 | g.206116645G>T | CA36511055 | AVPR1B | c.246C>A (p.Ala82=) n.36+1019C>A | |
| 1 | g.206116646G>A | CA344455899 | AVPR1B | c.245C>T (p.Ala82Val) n.36+1018C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116646G>C | CA344455902 | AVPR1B | c.245C>G (p.Ala82Gly) n.36+1018C>G | |
| 1 | g.206116646G= | CA2482862288 | AVPR1B | c.245C= (p.Ala82=) n.36+1018C= | |
| 1 | g.206116646G>T | CA344455905 | AVPR1B | c.245C>A (p.Ala82Asp) n.36+1018C>A | |
| 1 | g.206116647C>A | CA344455915 | AVPR1B | c.244G>T (p.Ala82Ser) n.36+1017G>T | |
| 1 | g.206116647C>G | CA344455907 | AVPR1B | c.244G>C (p.Ala82Pro) n.36+1017G>C | |
| 1 | g.206116647C>T | CA344455912 | AVPR1B | c.244G>A (p.Ala82Thr) n.36+1017G>A | |
| 1 | g.206116648C>A | CA423132324 | AVPR1B | c.243G>T (p.Leu81=) n.36+1016G>T | |
| 1 | g.206116648C>G | CA423132325 | AVPR1B | c.243G>C (p.Leu81=) n.36+1016G>C | |
| 1 | g.206116648C>T | CA423132326 | AVPR1B | c.243G>A (p.Leu81=) n.36+1016G>A | |
| 1 | g.206116649A= | CA2482862289 | AVPR1B | c.242T= (p.Leu81=) n.36+1015T= | |
| 1 | g.206116649A>C | CA344455918 | AVPR1B | c.242T>G (p.Leu81Arg) n.36+1015T>G | gnomAD v4 |
| 1 | g.206116649A>G | CA1359250 | AVPR1B | c.242T>C (p.Leu81Pro) n.36+1015T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116649A>T | CA344455920 | AVPR1B | c.242T>A (p.Leu81Gln) n.36+1015T>A | dbSNP gnomAD v4 |
| 1 | g.206116650G>A | CA423132327 | AVPR1B | c.241C>T (p.Leu81=) n.36+1014C>T | |
| 1 | g.206116650G>C | CA344455923 | AVPR1B | c.241C>G (p.Leu81Val) n.36+1014C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116650G= | CA2482862290 | AVPR1B | c.241C= (p.Leu81=) n.36+1014C= | |
| 1 | g.206116650G>T | CA344455924 | AVPR1B | c.241C>A (p.Leu81Met) n.36+1014C>A | dbSNP |
| 1 | g.206116651G>A | CA423132328 | AVPR1B | c.240C>T (p.Asp80=) n.36+1013C>T | |
| 1 | g.206116651G>C | CA344455928 | AVPR1B | c.240C>G (p.Asp80Glu) n.36+1013C>G | |
| 1 | g.206116651G= | CA2482862291 | AVPR1B | c.240C= (p.Asp80=) n.36+1013C= | |
| 1 | g.206116651G>T | CA344455930 | AVPR1B | c.240C>A (p.Asp80Glu) n.36+1013C>A | dbSNP |
| 1 | g.206116654_206116657del | CA2650177477 | AVPR1B | c.237_240del (p.Asp80TrpfsTer?) n.36+1010_36+1013del | gnomAD v4 |
| 1 | g.206116652T>A | CA344455933 | AVPR1B | c.239A>T (p.Asp80Val) n.36+1012A>T | |
| 1 | g.206116652T>C | CA344455935 | AVPR1B | c.239A>G (p.Asp80Gly) n.36+1012A>G | |
| 1 | g.206116652T>G | CA344455938 | AVPR1B | c.239A>C (p.Asp80Ala) n.36+1012A>C | |
| 1 | g.206116653C>A | CA36511063 | AVPR1B | c.238G>T (p.Asp80Tyr) n.36+1011G>T | |
| 1 | g.206116653C= | CA2482862292 | AVPR1B | c.238G= (p.Asp80=) n.36+1011G= | |
| 1 | g.206116653C>G | CA36511064 | AVPR1B | c.238G>C (p.Asp80His) n.36+1011G>C | dbSNP |
| 1 | g.206116653C>T | CA1359249 | AVPR1B | c.238G>A (p.Asp80Asn) n.36+1011G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116654T>A | CA423132337 | AVPR1B | c.237A>T (p.Thr79=) n.36+1010A>T | |
| 1 | g.206116654T>C | CA423132335 | AVPR1B | c.237A>G (p.Thr79=) n.36+1010A>G | |
| 1 | g.206116654T>G | CA423132334 | AVPR1B | c.237A>C (p.Thr79=) n.36+1010A>C | |
| 1 | g.206116655G>A | CA344455946 | AVPR1B | c.236C>T (p.Thr79Ile) n.36+1009C>T | gnomAD v4 |
| 1 | g.206116655G>C | CA1359248 | AVPR1B | c.236C>G (p.Thr79Arg) n.36+1009C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116655G= | CA2482862293 | AVPR1B | c.236C= (p.Thr79=) n.36+1009C= | |
| 1 | g.206116655G>T | CA344455948 | AVPR1B | c.236C>A (p.Thr79Lys) n.36+1009C>A | |
| 1 | g.206116656T>A | CA344455951 | AVPR1B | c.235A>T (p.Thr79Ser) n.36+1008A>T | |
| 1 | g.206116656T>C | CA344455953 | AVPR1B | c.235A>G (p.Thr79Ala) n.36+1008A>G | |
| 1 | g.206116656T>G | CA344455955 | AVPR1B | c.235A>C (p.Thr79Pro) n.36+1008A>C | |
| 1 | g.206116657C>A | CA36511070 | AVPR1B | c.234G>T (p.Leu78=) n.36+1007G>T | |
| 1 | g.206116657C= | CA2482862294 | AVPR1B | c.234G= (p.Leu78=) n.36+1007G= | |
| 1 | g.206116657C>G | CA36511071 | AVPR1B | c.234G>C (p.Leu78=) n.36+1007G>C | |
| 1 | g.206116657C>T | CA1359247 | AVPR1B | c.234G>A (p.Leu78=) n.36+1007G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.206116658A>C | CA344455965 | AVPR1B | c.233T>G (p.Leu78Arg) n.36+1006T>G | |
| 1 | g.206116658A>G | CA344455968 | AVPR1B | c.233T>C (p.Leu78Pro) n.36+1006T>C | gnomAD v4 |
| 1 | g.206116658A>T | CA344455971 | AVPR1B | c.233T>A (p.Leu78Gln) n.36+1006T>A | |
| 1 | g.206116659G>A | CA423132342 | AVPR1B | c.232C>T (p.Leu78=) n.36+1005C>T | |
| 1 | g.206116659G>C | CA344455975 | AVPR1B | c.232C>G (p.Leu78Val) n.36+1005C>G | |
| 1 | g.206116659G>T | CA344455977 | AVPR1B | c.232C>A (p.Leu78Met) n.36+1005C>A | |
| 1 | g.206116660G>A | CA423132344 | AVPR1B | c.231C>T (p.Ala77=) n.36+1004C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116660G>C | CA423132345 | AVPR1B | c.231C>G (p.Ala77=) n.36+1004C>G | |
| 1 | g.206116660G= | CA2482862295 | AVPR1B | c.231C= (p.Ala77=) n.36+1004C= | |
| 1 | g.206116660G>T | CA423132343 | AVPR1B | c.231C>A (p.Ala77=) n.36+1004C>A | dbSNP gnomAD v4 |
| 1 | g.206116661G>A | CA344455981 | AVPR1B | c.230C>T (p.Ala77Val) n.36+1003C>T | dbSNP gnomAD v4 |
| 1 | g.206116661G>C | CA344455983 | AVPR1B | c.230C>G (p.Ala77Gly) n.36+1003C>G | |
| 1 | g.206116661G= | CA2482862296 | AVPR1B | c.230C= (p.Ala77=) n.36+1003C= | |
| 1 | g.206116661G>T | CA344455985 | AVPR1B | c.230C>A (p.Ala77Asp) n.36+1003C>A | |
| 1 | g.206116662C>A | CA344455995 | AVPR1B | c.229G>T (p.Ala77Ser) n.36+1002G>T | |
| 1 | g.206116662C>G | CA344455989 | AVPR1B | c.229G>C (p.Ala77Pro) n.36+1002G>C | |
| 1 | g.206116662C>T | CA344455992 | AVPR1B | c.229G>A (p.Ala77Thr) n.36+1002G>A | |
| 1 | g.206116663T>A | CA344455996 | AVPR1B | c.228A>T (p.Leu76Phe) n.36+1001A>T | gnomAD v4 |
| 1 | g.206116663T>C | CA423132352 | AVPR1B | c.228A>G (p.Leu76=) n.36+1001A>G | |
| 1 | g.206116663T>G | CA344455997 | AVPR1B | c.228A>C (p.Leu76Phe) n.36+1001A>C | |
| 1 | g.206116664A>C | CA344456004 | AVPR1B | c.227T>G (p.Leu76Ter) n.36+1000T>G | |
| 1 | g.206116664A>G | CA344456007 | AVPR1B | c.227T>C (p.Leu76Ser) n.36+1000T>C | |
| 1 | g.206116664A>T | CA344456009 | AVPR1B | c.227T>A (p.Leu76Ter) n.36+1000T>A | |
| 1 | g.206116665A>C | CA344456012 | AVPR1B | c.226T>G (p.Leu76Val) n.36+999T>G | |
| 1 | g.206116665A>G | CA423132357 | AVPR1B | c.226T>C (p.Leu76=) n.36+999T>C | dbSNP |
| 1 | g.206116665A>T | CA344456015 | AVPR1B | c.226T>A (p.Leu76Ile) n.36+999T>A | |
| 1 | g.206116666G>A | CA423132359 | AVPR1B | c.225C>T (p.His75=) n.36+998C>T | |
| 1 | g.206116666G>C | CA344456019 | AVPR1B | c.225C>G (p.His75Gln) n.36+998C>G | |
| 1 | g.206116666G>T | CA344456022 | AVPR1B | c.225C>A (p.His75Gln) n.36+998C>A | |
| 1 | g.206116667T>A | CA344456024 | AVPR1B | c.224A>T (p.His75Leu) n.36+997A>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116667T>C | CA344456025 | AVPR1B | c.224A>G (p.His75Arg) n.36+997A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116667T>G | CA344456027 | AVPR1B | c.224A>C (p.His75Pro) n.36+997A>C | |
| 1 | g.206116667T= | CA2482862297 | AVPR1B | c.224A= (p.His75=) n.36+997A= | |
| 1 | g.206116668G>A | CA344456029 | AVPR1B | c.223C>T (p.His75Tyr) n.36+996C>T | |
| 1 | g.206116668G>C | CA344456033 | AVPR1B | c.223C>G (p.His75Asp) n.36+996C>G | |
| 1 | g.206116668G>T | CA344456032 | AVPR1B | c.223C>A (p.His75Asn) n.36+996C>A | |
| 1 | g.206116669C>A | CA423132367 | AVPR1B | c.222G>T (p.Leu74=) n.36+995G>T | |
| 1 | g.206116669C>G | CA423132365 | AVPR1B | c.222G>C (p.Leu74=) n.36+995G>C | |
| 1 | g.206116669C>T | CA423132366 | AVPR1B | c.222G>A (p.Leu74=) n.36+995G>A | |
| 1 | g.206116670A>C | CA344456037 | AVPR1B | c.221T>G (p.Leu74Arg) n.36+994T>G | |
| 1 | g.206116670A>G | CA344456041 | AVPR1B | c.221T>C (p.Leu74Pro) n.36+994T>C | |
| 1 | g.206116670A>T | CA344456039 | AVPR1B | c.221T>A (p.Leu74Gln) n.36+994T>A | |
| 1 | g.206116671G>A | CA423132368 | AVPR1B | c.220C>T (p.Leu74=) n.36+993C>T | |
| 1 | g.206116671G>C | CA344456044 | AVPR1B | c.220C>G (p.Leu74Val) n.36+993C>G | |
| 1 | g.206116671G>T | CA344456046 | AVPR1B | c.220C>A (p.Leu74Met) n.36+993C>A | |
| 1 | g.206116672C>A | CA423132369 | AVPR1B | c.219G>T (p.Val73=) n.36+992G>T | |
| 1 | g.206116672C>G | CA423132370 | AVPR1B | c.219G>C (p.Val73=) n.36+992G>C | |
| 1 | g.206116672C>T | CA423132371 | AVPR1B | c.219G>A (p.Val73=) n.36+992G>A | |
| 1 | g.206116673A= | CA1148009402 | AVPR1B | c.218T= (p.Val73=) n.36+991T= | |
| 1 | g.206116673A>C | CA36511072 | AVPR1B | c.218T>G (p.Val73Gly) n.36+991T>G | |
| 1 | g.206116673A>G | CA1359246 | AVPR1B | c.218T>C (p.Val73Ala) n.36+991T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116673A>T | CA36511073 | AVPR1B | c.218T>A (p.Val73Glu) n.36+991T>A | |
| 1 | g.206116674C>A | CA344456057 | AVPR1B | c.217G>T (p.Val73Leu) n.36+990G>T | |
| 1 | g.206116674C= | CA1141721470 | AVPR1B | c.217G= (p.Val73=) n.36+990G= | |
| 1 | g.206116674C>G | CA344456060 | AVPR1B | c.217G>C (p.Val73Leu) n.36+990G>C | gnomAD v4 |
| 1 | g.206116674C>T | CA1359245 | AVPR1B | c.217G>A (p.Val73Met) n.36+990G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116675G>A | CA1359244 | AVPR1B | c.216C>T (p.Phe72=) n.36+989C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116675G>C | CA36511078 | AVPR1B | c.216C>G (p.Phe72Leu) n.36+989C>G | dbSNP gnomAD v4 |
| 1 | g.206116675G= | CA2482862298 | AVPR1B | c.216C= (p.Phe72=) n.36+989C= | |
| 1 | g.206116675G>T | CA36511103 | AVPR1B | c.216C>A (p.Phe72Leu) n.36+989C>A | dbSNP gnomAD v2 |
| 1 | g.206116676A>C | CA344456070 | AVPR1B | c.215T>G (p.Phe72Cys) n.36+988T>G | |
| 1 | g.206116676A>G | CA344456073 | AVPR1B | c.215T>C (p.Phe72Ser) n.36+988T>C | dbSNP |
| 1 | g.206116676A>T | CA344456074 | AVPR1B | c.215T>A (p.Phe72Tyr) n.36+988T>A | |
| 1 | g.206116677A>C | CA344456079 | AVPR1B | c.214T>G (p.Phe72Val) n.36+987T>G | |
| 1 | g.206116677A>G | CA344456084 | AVPR1B | c.214T>C (p.Phe72Leu) n.36+987T>C | |
| 1 | g.206116677A>T | CA344456081 | AVPR1B | c.214T>A (p.Phe72Ile) n.36+987T>A | |
| 1 | g.206116678C>A | CA423132391 | AVPR1B | c.213G>T (p.Leu71=) n.36+986G>T | |
| 1 | g.206116678C= | CA2482862299 | AVPR1B | c.213G= (p.Leu71=) n.36+986G= | |
| 1 | g.206116678C>G | CA423132388 | AVPR1B | c.213G>C (p.Leu71=) n.36+986G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116678C>T | CA423132389 | AVPR1B | c.213G>A (p.Leu71=) n.36+986G>A | |
| 1 | g.206116679A>C | CA344456087 | AVPR1B | c.212T>G (p.Leu71Arg) n.36+985T>G | |
| 1 | g.206116679A>G | CA344456089 | AVPR1B | c.212T>C (p.Leu71Pro) n.36+985T>C | |
| 1 | g.206116679A>T | CA344456092 | AVPR1B | c.212T>A (p.Leu71Gln) n.36+985T>A | |
| 1 | g.206116680G>A | CA423132392 | AVPR1B | c.211C>T (p.Leu71=) n.36+984C>T | |
| 1 | g.206116680G>C | CA344456095 | AVPR1B | c.211C>G (p.Leu71Val) n.36+984C>G | |
| 1 | g.206116680G>T | CA344456096 | AVPR1B | c.211C>A (p.Leu71Met) n.36+984C>A | dbSNP |
| 1 | g.206116681G>A | CA423132393 | AVPR1B | c.210C>T (p.His70=) n.36+983C>T | |
| 1 | g.206116681G>C | CA344456101 | AVPR1B | c.210C>G (p.His70Gln) n.36+983C>G | |
| 1 | g.206116681G= | CA2482862300 | AVPR1B | c.210C= (p.His70=) n.36+983C= | |
| 1 | g.206116681G>T | CA344456103 | AVPR1B | c.210C>A (p.His70Gln) n.36+983C>A | dbSNP gnomAD v4 |
| 1 | g.206116682T>A | CA344456105 | AVPR1B | c.209A>T (p.His70Leu) n.36+982A>T | |
| 1 | g.206116682T>C | CA344456108 | AVPR1B | c.209A>G (p.His70Arg) n.36+982A>G | |
| 1 | g.206116682T>G | CA344456111 | AVPR1B | c.209A>C (p.His70Pro) n.36+982A>C | |
| 1 | g.206116685_206116688dup | CA1359239 | AVPR1B | c.206_209dup (p.Leu71AlafsTer?) n.36+979_36+982dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116683G>A | CA1359243 | AVPR1B | c.208C>T (p.His70Tyr) n.36+981C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116683G>C | CA344456116 | AVPR1B | c.208C>G (p.His70Asp) n.36+981C>G | |
| 1 | g.206116683G= | CA2482862301 | AVPR1B | c.208C= (p.His70=) n.36+981C= | |
| 1 | g.206116683G>T | CA344456114 | AVPR1B | c.208C>A (p.His70Asn) n.36+981C>A | |
| 1 | g.206116684C>A | CA344456121 | AVPR1B | c.207G>T (p.Met69Ile) n.36+980G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116684C= | CA2482862302 | AVPR1B | c.207G= (p.Met69=) n.36+980G= | |
| 1 | g.206116684C>G | CA344456123 | AVPR1B | c.207G>C (p.Met69Ile) n.36+980G>C | |
| 1 | g.206116684C>T | CA344456125 | AVPR1B | c.207G>A (p.Met69Ile) n.36+980G>A | |
| 1 | g.206116685A>C | CA344456129 | AVPR1B | c.206T>G (p.Met69Arg) n.36+979T>G | dbSNP gnomAD v4 |
| 1 | g.206116685A>G | CA344456133 | AVPR1B | c.206T>C (p.Met69Thr) n.36+979T>C | gnomAD v4 |
| 1 | g.206116685A>T | CA344456136 | AVPR1B | c.206T>A (p.Met69Lys) n.36+979T>A | dbSNP |
| 1 | g.206116686T>A | CA344456138 | AVPR1B | c.205A>T (p.Met69Leu) n.36+978A>T | gnomAD v4 |
| 1 | g.206116686T>C | CA344456140 | AVPR1B | c.205A>G (p.Met69Val) n.36+978A>G | gnomAD v4 |
| 1 | g.206116686T>G | CA344456141 | AVPR1B | c.205A>C (p.Met69Leu) n.36+978A>C | |
| 1 | g.206116687G>A | CA423132406 | AVPR1B | c.204C>T (p.Arg68=) n.36+977C>T | |
| 1 | g.206116687G>C | CA423132404 | AVPR1B | c.204C>G (p.Arg68=) n.36+977C>G | dbSNP |
| 1 | g.206116687G= | CA2482862303 | AVPR1B | c.204C= (p.Arg68=) n.36+977C= | |
| 1 | g.206116687G>T | CA423132405 | AVPR1B | c.204C>A (p.Arg68=) n.36+977C>A | |
| 1 | g.206116688C>A | CA36511104 | AVPR1B | c.203G>T (p.Arg68Leu) n.36+976G>T | gnomAD v4 |
| 1 | g.206116688C= | CA2482862304 | AVPR1B | c.203G= (p.Arg68=) n.36+976G= | |
| 1 | g.206116688C>G | CA36511107 | AVPR1B | c.203G>C (p.Arg68Pro) n.36+976G>C | |
| 1 | g.206116688C>T | CA1359242 | AVPR1B | c.203G>A (p.Arg68His) n.36+976G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.206116689G>A | CA1359240 | AVPR1B | c.202C>T (p.Arg68Cys) n.36+975C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116689G>C | CA1359241 | AVPR1B | c.202C>G (p.Arg68Gly) n.36+975C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116689G= | CA2482862305 | AVPR1B | c.202C= (p.Arg68=) n.36+975C= | |
| 1 | g.206116689G>T | CA36511117 | AVPR1B | c.202C>A (p.Arg68Ser) n.36+975C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.206116689_206116690insCATG | CA36511113 | AVPR1B | c.202_203insATGC (p.Arg68HisfsTer?) n.36+975_36+976insATGC | |
| 1 | g.206116690G>A | CA423132409 | AVPR1B | c.201C>T (p.Ser67=) n.36+974C>T | |
| 1 | g.206116690G>C | CA423132410 | AVPR1B | c.201C>G (p.Ser67=) n.36+974C>G | |
| 1 | g.206116690G>T | CA423132411 | AVPR1B | c.201C>A (p.Ser67=) n.36+974C>A | gnomAD v4 |
| 1 | g.206116691G>A | CA344456161 | AVPR1B | c.200C>T (p.Ser67Phe) n.36+973C>T | COSMIC |
| 1 | g.206116691G>C | CA344456163 | AVPR1B | c.200C>G (p.Ser67Cys) n.36+973C>G | |
| 1 | g.206116691G>T | CA344456170 | AVPR1B | c.200C>A (p.Ser67Tyr) n.36+973C>A | gnomAD v4 |
| 1 | g.206116692A= | CA2482862306 | AVPR1B | c.199T= (p.Ser67=) n.36+972T= | |
| 1 | g.206116692A>C | CA344456174 | AVPR1B | c.199T>G (p.Ser67Ala) n.36+972T>G | |
| 1 | g.206116692A>G | CA344456175 | AVPR1B | c.199T>C (p.Ser67Pro) n.36+972T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116692A>T | CA344456177 | AVPR1B | c.199T>A (p.Ser67Thr) n.36+972T>A | |
| 1 | g.206116693G>A | CA1359238 | AVPR1B | c.198C>T (p.Arg66=) n.36+971C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116693G>C | CA36511120 | AVPR1B | c.198C>G (p.Arg66=) n.36+971C>G | gnomAD v4 |
| 1 | g.206116693G= | CA2482862307 | AVPR1B | c.198C= (p.Arg66=) n.36+971C= | |
| 1 | g.206116693G>T | CA36511121 | AVPR1B | c.198C>A (p.Arg66=) n.36+971C>A | gnomAD v4 |
| 1 | g.206116694C>A | CA1359236 | AVPR1B | c.197G>T (p.Arg66Leu) n.36+970G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116694C= | CA2482862308 | AVPR1B | c.197G= (p.Arg66=) n.36+970G= | |
| 1 | g.206116694C>G | CA36511132 | AVPR1B | c.197G>C (p.Arg66Pro) n.36+970G>C | dbSNP |
| 1 | g.206116694C>T | CA1359237 | AVPR1B | c.197G>A (p.Arg66His) n.36+970G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116695G>A | CA344456197 | AVPR1B | c.196C>T (p.Arg66Cys) n.36+969C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.206116695G>C | CA344456194 | AVPR1B | c.196C>G (p.Arg66Gly) n.36+969C>G | |
| 1 | g.206116695G= | CA2482862309 | AVPR1B | c.196C= (p.Arg66=) n.36+969C= | |
| 1 | g.206116695G>T | CA344456192 | AVPR1B | c.196C>A (p.Arg66Ser) n.36+969C>A | gnomAD v4 |
| 1 | g.206116696C>A | CA344456200 | AVPR1B | c.195G>T (p.Lys65Asn) n.36+968G>T | |
| 1 | g.206116696C= | CA1140568236 | AVPR1B | c.195G= (p.Lys65=) n.36+968G= | |
| 1 | g.206116696C>G | CA1359235 | AVPR1B | c.195G>C (p.Lys65Asn) n.36+968G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116696C>T | CA423132420 | AVPR1B | c.195G>A (p.Lys65=) n.36+968G>A | dbSNP gnomAD v4 |
| 1 | g.206116697T>A | CA344456205 | AVPR1B | c.194A>T (p.Lys65Met) n.36+967A>T | |
| 1 | g.206116697T>C | CA344456209 | AVPR1B | c.194A>G (p.Lys65Arg) n.36+967A>G | |
| 1 | g.206116697T>G | CA344456206 | AVPR1B | c.194A>C (p.Lys65Thr) n.36+967A>C | |
| 1 | g.206116698T>A | CA344456212 | AVPR1B | c.193A>T (p.Lys65Ter) n.36+966A>T | |
| 1 | g.206116698T>C | CA1359234 | AVPR1B | c.193A>G (p.Lys65Glu) n.36+966A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116698T>G | CA344456214 | AVPR1B | c.193A>C (p.Lys65Gln) n.36+966A>C | dbSNP |
| 1 | g.206116698T= | CA1143767620 | AVPR1B | c.193A= (p.Lys65=) n.36+966A= | |
| 1 | g.206116699G>A | CA423132428 | AVPR1B | c.192C>T (p.Arg64=) n.36+965C>T | |
| 1 | g.206116699G>C | CA423132431 | AVPR1B | c.192C>G (p.Arg64=) n.36+965C>G | |
| 1 | g.206116699G>T | CA423132433 | AVPR1B | c.192C>A (p.Arg64=) n.36+965C>A | |
| 1 | g.206116700C>A | CA1359232 | AVPR1B | c.191G>T (p.Arg64Leu) n.36+964G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116700C= | CA2482862310 | AVPR1B | c.191G= (p.Arg64=) n.36+964G= | |
| 1 | g.206116700C>G | CA36511155 | AVPR1B | c.191G>C (p.Arg64Pro) n.36+964G>C | |
| 1 | g.206116700C>T | CA1359233 | AVPR1B | c.191G>A (p.Arg64His) n.36+964G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116701G>A | CA344456220 | AVPR1B | c.190C>T (p.Arg64Cys) n.36+963C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116701G>C | CA36511158 | AVPR1B | c.190C>G (p.Arg64Gly) n.36+963C>G | dbSNP |
| 1 | g.206116701G= | CA1143803047 | AVPR1B | c.190C= (p.Arg64=) n.36+963C= | |
| 1 | g.206116701G>T | CA344456223 | AVPR1B | c.190C>A (p.Arg64Ser) n.36+963C>A | |
| 1 | g.206116702G>A | CA423132439 | AVPR1B | c.189C>T (p.Gly63=) n.36+962C>T | |
| 1 | g.206116702G>C | CA423132440 | AVPR1B | c.189C>G (p.Gly63=) n.36+962C>G | |
| 1 | g.206116702G= | CA2482862311 | AVPR1B | c.189C= (p.Gly63=) n.36+962C= | |
| 1 | g.206116702G>T | CA423132441 | AVPR1B | c.189C>A (p.Gly63=) n.36+962C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.206116703C>A | CA344456225 | AVPR1B | c.188G>T (p.Gly63Val) n.36+961G>T | |
| 1 | g.206116703C>G | CA344456227 | AVPR1B | c.188G>C (p.Gly63Ala) n.36+961G>C | |
| 1 | g.206116703C>T | CA344456229 | AVPR1B | c.188G>A (p.Gly63Asp) n.36+961G>A | |
| 1 | g.206116704C>A | CA344456234 | AVPR1B | c.187G>T (p.Gly63Cys) n.36+960G>T | |
| 1 | g.206116704C>G | CA344456231 | AVPR1B | c.187G>C (p.Gly63Arg) n.36+960G>C | |
| 1 | g.206116704C>T | CA344456233 | AVPR1B | c.187G>A (p.Gly63Ser) n.36+960G>A | |
| 1 | g.206116705C>A | CA423132449 | AVPR1B | c.186G>T (p.Leu62=) n.36+959G>T | |
| 1 | g.206116705C>G | CA423132445 | AVPR1B | c.186G>C (p.Leu62=) n.36+959G>C | |
| 1 | g.206116705C>T | CA423132446 | AVPR1B | c.186G>A (p.Leu62=) n.36+959G>A | |
| 1 | g.206116706A= | CA2482862312 | AVPR1B | c.185T= (p.Leu62=) n.36+958T= | |
| 1 | g.206116706A>C | CA1359231 | AVPR1B | c.185T>G (p.Leu62Arg) n.36+958T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.206116706A>G | CA36511162 | AVPR1B | c.185T>C (p.Leu62Pro) n.36+958T>C | |
| 1 | g.206116706A>T | CA36511163 | AVPR1B | c.185T>A (p.Leu62Gln) n.36+958T>A | |
| 1 | g.206116707G>A | CA423132450 | AVPR1B | c.184C>T (p.Leu62=) n.36+957C>T | |
| 1 | g.206116707G>C | CA344456241 | AVPR1B | c.184C>G (p.Leu62Val) n.36+957C>G | |
| 1 | g.206116707G>T | CA344456243 | AVPR1B | c.184C>A (p.Leu62Met) n.36+957C>A | gnomAD v4 |
| 1 | g.206116708C>A | CA344456245 | AVPR1B | c.183G>T (p.Gln61His) n.36+956G>T | |
| 1 | g.206116708C= | CA1143471157 | AVPR1B | c.183G= (p.Gln61=) n.36+956G= | |
| 1 | g.206116708C>G | CA344456247 | AVPR1B | c.183G>C (p.Gln61His) n.36+956G>C | |
| 1 | g.206116708C>T | CA1359230 | AVPR1B | c.183G>A (p.Gln61=) n.36+956G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.206116709T>A | CA344456251 | AVPR1B | c.182A>T (p.Gln61Leu) n.36+955A>T | |
| 1 | g.206116709T>C | CA344456252 | AVPR1B | c.182A>G (p.Gln61Arg) n.36+955A>G | |
| 1 | g.206116709T>G | CA344456254 | AVPR1B | c.182A>C (p.Gln61Pro) n.36+955A>C | |
| 1 | g.206116710G>A | CA344456260 | AVPR1B | c.181C>T (p.Gln61Ter) n.36+954C>T | |
| 1 | g.206116710G>C | CA344456258 | AVPR1B | c.181C>G (p.Gln61Glu) n.36+954C>G | |
| 1 | g.206116710G>T | CA344456256 | AVPR1B | c.181C>A (p.Gln61Lys) n.36+954C>A | gnomAD v4 |
| 1 | g.206116711G>A | CA423132459 | AVPR1B | c.180C>T (p.Gly60=) n.36+953C>T | gnomAD v4 |
| 1 | g.206116711G>C | CA423132461 | AVPR1B | c.180C>G (p.Gly60=) n.36+953C>G | |
| 1 | g.206116711G>T | CA423132462 | AVPR1B | c.180C>A (p.Gly60=) n.36+953C>A | |
| 1 | g.206116712C>A | CA344456266 | AVPR1B | c.179G>T (p.Gly60Val) n.36+952G>T | |
| 1 | g.206116712C>G | CA344456262 | AVPR1B | c.179G>C (p.Gly60Ala) n.36+952G>C | |
| 1 | g.206116712C>T | CA344456264 | AVPR1B | c.179G>A (p.Gly60Asp) n.36+952G>A | gnomAD v4 |