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 |
|---|---|---|---|---|---|
| 12 | g.109798742C>A | CA347708 | TRPV4 | c.1024G>T (p.Val342Phe) c.*111G>T (n.*111G>T) n.1055G>T c.922G>T (p.Val308Phe) c.883G>T (p.Val295Phe) c.1177G>T (p.Val393Phe) c.1036G>T (p.Val346Phe) | ClinVar dbSNP |
| 12 | g.109798742C= | CA2062573004 | TRPV4 | c.1024G= (p.Val342=) c.*111G= (n.*111G=) n.1055G= c.922G= (p.Val308=) c.883G= (p.Val295=) c.1177G= (p.Val393=) c.1036G= (p.Val346=) | |
| 12 | g.109798742C>G | CA386654477 | TRPV4 | c.1024G>C (p.Val342Leu) c.*111G>C (n.*111G>C) n.1055G>C c.922G>C (p.Val308Leu) c.883G>C (p.Val295Leu) c.1177G>C (p.Val393Leu) c.1036G>C (p.Val346Leu) | gnomAD v4 |
| 12 | g.109798742C>T | CA386654480 | TRPV4 | c.1024G>A (p.Val342Ile) c.*111G>A (n.*111G>A) n.1055G>A c.922G>A (p.Val308Ile) c.883G>A (p.Val295Ile) c.1177G>A (p.Val393Ile) c.1036G>A (p.Val346Ile) | gnomAD v4 |
| 12 | g.109798743A>C | CA386654482 | TRPV4 | c.1023T>G (p.Phe341Leu) c.*110T>G (n.*110T>G) n.1054T>G c.921T>G (p.Phe307Leu) c.882T>G (p.Phe294Leu) c.1176T>G (p.Phe392Leu) c.1035T>G (p.Phe345Leu) | |
| 12 | g.109798743A>G | CA481867393 | TRPV4 | c.1023T>C (p.Phe341=) c.*110T>C (n.*110T>C) n.1054T>C c.921T>C (p.Phe307=) c.882T>C (p.Phe294=) c.1176T>C (p.Phe392=) c.1035T>C (p.Phe345=) | dbSNP |
| 12 | g.109798743A>T | CA386654484 | TRPV4 | c.1023T>A (p.Phe341Leu) c.*110T>A (n.*110T>A) n.1054T>A c.921T>A (p.Phe307Leu) c.882T>A (p.Phe294Leu) c.1176T>A (p.Phe392Leu) c.1035T>A (p.Phe345Leu) | |
| 12 | g.109798745dup | CA2620828363 | TRPV4 | c.1023dup (p.Val342CysfsTer?) c.*110dup (n.*110dup) n.1054dup c.921dup (p.Val308CysfsTer?) c.882dup (p.Val295CysfsTer?) c.1176dup (p.Val393CysfsTer?) c.1035dup (p.Val346CysfsTer?) | gnomAD v4 |
| 12 | g.109798744A>C | CA386654489 | TRPV4 | c.1022T>G (p.Phe341Cys) c.*109T>G (n.*109T>G) n.1053T>G c.920T>G (p.Phe307Cys) c.881T>G (p.Phe294Cys) c.1175T>G (p.Phe392Cys) c.1034T>G (p.Phe345Cys) | |
| 12 | g.109798744A>G | CA386654492 | TRPV4 | c.1022T>C (p.Phe341Ser) c.*109T>C (n.*109T>C) n.1053T>C c.920T>C (p.Phe307Ser) c.881T>C (p.Phe294Ser) c.1175T>C (p.Phe392Ser) c.1034T>C (p.Phe345Ser) | |
| 12 | g.109798744A>T | CA386654487 | TRPV4 | c.1022T>A (p.Phe341Tyr) c.*109T>A (n.*109T>A) n.1053T>A c.920T>A (p.Phe307Tyr) c.881T>A (p.Phe294Tyr) c.1175T>A (p.Phe392Tyr) c.1034T>A (p.Phe345Tyr) | |
| 12 | g.109798745A>C | CA386654494 | TRPV4 | c.1021T>G (p.Phe341Val) c.*108T>G (n.*108T>G) n.1052T>G c.919T>G (p.Phe307Val) c.880T>G (p.Phe294Val) c.1174T>G (p.Phe392Val) c.1033T>G (p.Phe345Val) | |
| 12 | g.109798745A>G | CA386654497 | TRPV4 | c.1021T>C (p.Phe341Leu) c.*108T>C (n.*108T>C) n.1052T>C c.919T>C (p.Phe307Leu) c.880T>C (p.Phe294Leu) c.1174T>C (p.Phe392Leu) c.1033T>C (p.Phe345Leu) | |
| 12 | g.109798745A>T | CA386654499 | TRPV4 | c.1021T>A (p.Phe341Ile) c.*108T>A (n.*108T>A) n.1052T>A c.919T>A (p.Phe307Ile) c.880T>A (p.Phe294Ile) c.1174T>A (p.Phe392Ile) c.1033T>A (p.Phe345Ile) | |
| 12 | g.109798746C>A | CA386654501 | TRPV4 | c.1020G>T (p.Lys340Asn) c.*107G>T (n.*107G>T) n.1051G>T c.918G>T (p.Lys306Asn) c.879G>T (p.Lys293Asn) c.1173G>T (p.Lys391Asn) c.1032G>T (p.Lys344Asn) | |
| 12 | g.109798746C>G | CA386654502 | TRPV4 | c.1020G>C (p.Lys340Asn) c.*107G>C (n.*107G>C) n.1051G>C c.918G>C (p.Lys306Asn) c.879G>C (p.Lys293Asn) c.1173G>C (p.Lys391Asn) c.1032G>C (p.Lys344Asn) | |
| 12 | g.109798746C>T | CA481867396 | TRPV4 | c.1020G>A (p.Lys340=) c.*107G>A (n.*107G>A) n.1051G>A c.918G>A (p.Lys306=) c.879G>A (p.Lys293=) c.1173G>A (p.Lys391=) c.1032G>A (p.Lys344=) | COSMIC |
| 12 | g.109798747T>A | CA386654507 | TRPV4 | c.1019A>T (p.Lys340Met) c.*106A>T (n.*106A>T) n.1050A>T c.917A>T (p.Lys306Met) c.878A>T (p.Lys293Met) c.1172A>T (p.Lys391Met) c.1031A>T (p.Lys344Met) | |
| 12 | g.109798747T>C | CA386654503 | TRPV4 | c.1019A>G (p.Lys340Arg) c.*106A>G (n.*106A>G) n.1050A>G c.917A>G (p.Lys306Arg) c.878A>G (p.Lys293Arg) c.1172A>G (p.Lys391Arg) c.1031A>G (p.Lys344Arg) | |
| 12 | g.109798747T>G | CA386654505 | TRPV4 | c.1019A>C (p.Lys340Thr) c.*106A>C (n.*106A>C) n.1050A>C c.917A>C (p.Lys306Thr) c.878A>C (p.Lys293Thr) c.1172A>C (p.Lys391Thr) c.1031A>C (p.Lys344Thr) | |
| 12 | g.109798748T>A | CA386654509 | TRPV4 | c.1018A>T (p.Lys340Ter) c.*105A>T (n.*105A>T) n.1049A>T c.916A>T (p.Lys306Ter) c.877A>T (p.Lys293Ter) c.1171A>T (p.Lys391Ter) c.1030A>T (p.Lys344Ter) | |
| 12 | g.109798748T>C | CA386654511 | TRPV4 | c.1018A>G (p.Lys340Glu) c.*105A>G (n.*105A>G) n.1049A>G c.916A>G (p.Lys306Glu) c.877A>G (p.Lys293Glu) c.1171A>G (p.Lys391Glu) c.1030A>G (p.Lys344Glu) | |
| 12 | g.109798748T>G | CA386654513 | TRPV4 | c.1018A>C (p.Lys340Gln) c.*105A>C (n.*105A>C) n.1049A>C c.916A>C (p.Lys306Gln) c.877A>C (p.Lys293Gln) c.1171A>C (p.Lys391Gln) c.1030A>C (p.Lys344Gln) | |
| 12 | g.109798749G>A | CA481867399 | TRPV4 | c.1017C>T (p.Thr339=) c.*104C>T (n.*104C>T) n.1048C>T c.915C>T (p.Thr305=) c.876C>T (p.Thr292=) c.1170C>T (p.Thr390=) c.1029C>T (p.Thr343=) | |
| 12 | g.109798749G>C | CA481867400 | TRPV4 | c.1017C>G (p.Thr339=) c.*104C>G (n.*104C>G) n.1048C>G c.915C>G (p.Thr305=) c.876C>G (p.Thr292=) c.1170C>G (p.Thr390=) c.1029C>G (p.Thr343=) | gnomAD v4 |
| 12 | g.109798749G>T | CA481867401 | TRPV4 | c.1017C>A (p.Thr339=) c.*104C>A (n.*104C>A) n.1048C>A c.915C>A (p.Thr305=) c.876C>A (p.Thr292=) c.1170C>A (p.Thr390=) c.1029C>A (p.Thr343=) | |
| 12 | g.109798750G>A | CA386654517 | TRPV4 | c.1016C>T (p.Thr339Ile) c.*103C>T (n.*103C>T) n.1047C>T c.914C>T (p.Thr305Ile) c.875C>T (p.Thr292Ile) c.1169C>T (p.Thr390Ile) c.1028C>T (p.Thr343Ile) | |
| 12 | g.109798750G>C | CA386654519 | TRPV4 | c.1016C>G (p.Thr339Ser) c.*103C>G (n.*103C>G) n.1047C>G c.914C>G (p.Thr305Ser) c.875C>G (p.Thr292Ser) c.1169C>G (p.Thr390Ser) c.1028C>G (p.Thr343Ser) | |
| 12 | g.109798750G>T | CA386654520 | TRPV4 | c.1016C>A (p.Thr339Asn) c.*103C>A (n.*103C>A) n.1047C>A c.914C>A (p.Thr305Asn) c.875C>A (p.Thr292Asn) c.1169C>A (p.Thr390Asn) c.1028C>A (p.Thr343Asn) | |
| 12 | g.109798751T>A | CA386654525 | TRPV4 | c.1015A>T (p.Thr339Ser) c.*102A>T (n.*102A>T) n.1046A>T c.913A>T (p.Thr305Ser) c.874A>T (p.Thr292Ser) c.1168A>T (p.Thr390Ser) c.1027A>T (p.Thr343Ser) | |
| 12 | g.109798751T>C | CA386654523 | TRPV4 | c.1015A>G (p.Thr339Ala) c.*102A>G (n.*102A>G) n.1046A>G c.913A>G (p.Thr305Ala) c.874A>G (p.Thr292Ala) c.1168A>G (p.Thr390Ala) c.1027A>G (p.Thr343Ala) | |
| 12 | g.109798751T>G | CA386654521 | TRPV4 | c.1015A>C (p.Thr339Pro) c.*102A>C (n.*102A>C) n.1046A>C c.913A>C (p.Thr305Pro) c.874A>C (p.Thr292Pro) c.1168A>C (p.Thr390Pro) c.1027A>C (p.Thr343Pro) | |
| 12 | g.109798752G>A | CA481867402 | TRPV4 | c.1014C>T (p.Asn338=) c.*101C>T (n.*101C>T) n.1045C>T c.912C>T (p.Asn304=) c.873C>T (p.Asn291=) c.1167C>T (p.Asn389=) c.1026C>T (p.Asn342=) | |
| 12 | g.109798752G>C | CA386654529 | TRPV4 | c.1014C>G (p.Asn338Lys) c.*101C>G (n.*101C>G) n.1045C>G c.912C>G (p.Asn304Lys) c.873C>G (p.Asn291Lys) c.1167C>G (p.Asn389Lys) c.1026C>G (p.Asn342Lys) | |
| 12 | g.109798752G>T | CA386654528 | TRPV4 | c.1014C>A (p.Asn338Lys) c.*101C>A (n.*101C>A) n.1045C>A c.912C>A (p.Asn304Lys) c.873C>A (p.Asn291Lys) c.1167C>A (p.Asn389Lys) c.1026C>A (p.Asn342Lys) | |
| 12 | g.109798753T>A | CA386654531 | TRPV4 | c.1013A>T (p.Asn338Ile) c.*100A>T (n.*100A>T) n.1044A>T c.911A>T (p.Asn304Ile) c.872A>T (p.Asn291Ile) c.1166A>T (p.Asn389Ile) c.1025A>T (p.Asn342Ile) | |
| 12 | g.109798753T>C | CA386654534 | TRPV4 | c.1013A>G (p.Asn338Ser) c.*100A>G (n.*100A>G) n.1044A>G c.911A>G (p.Asn304Ser) c.872A>G (p.Asn291Ser) c.1166A>G (p.Asn389Ser) c.1025A>G (p.Asn342Ser) | |
| 12 | g.109798753T>G | CA386654535 | TRPV4 | c.1013A>C (p.Asn338Thr) c.*100A>C (n.*100A>C) n.1044A>C c.911A>C (p.Asn304Thr) c.872A>C (p.Asn291Thr) c.1166A>C (p.Asn389Thr) c.1025A>C (p.Asn342Thr) | |
| 12 | g.109798754T>A | CA386654536 | TRPV4 | c.1012A>T (p.Asn338Tyr) c.*99A>T (n.*99A>T) n.1043A>T c.910A>T (p.Asn304Tyr) c.871A>T (p.Asn291Tyr) c.1165A>T (p.Asn389Tyr) c.1024A>T (p.Asn342Tyr) | |
| 12 | g.109798754T>C | CA386654539 | TRPV4 | c.1012A>G (p.Asn338Asp) c.*99A>G (n.*99A>G) n.1043A>G c.910A>G (p.Asn304Asp) c.871A>G (p.Asn291Asp) c.1165A>G (p.Asn389Asp) c.1024A>G (p.Asn342Asp) | |
| 12 | g.109798754T>G | CA386654541 | TRPV4 | c.1012A>C (p.Asn338His) c.*99A>C (n.*99A>C) n.1043A>C c.910A>C (p.Asn304His) c.871A>C (p.Asn291His) c.1165A>C (p.Asn389His) c.1024A>C (p.Asn342His) | |
| 12 | g.109798755C>A | CA386654543 | TRPV4 | c.1011G>T (p.Glu337Asp) c.*98G>T (n.*98G>T) n.1042G>T c.909G>T (p.Glu303Asp) c.870G>T (p.Glu290Asp) c.1164G>T (p.Glu388Asp) c.1023G>T (p.Glu341Asp) | |
| 12 | g.109798755C>G | CA386654545 | TRPV4 | c.1011G>C (p.Glu337Asp) c.*98G>C (n.*98G>C) n.1042G>C c.909G>C (p.Glu303Asp) c.870G>C (p.Glu290Asp) c.1164G>C (p.Glu388Asp) c.1023G>C (p.Glu341Asp) | |
| 12 | g.109798755C>T | CA481867407 | TRPV4 | c.1011G>A (p.Glu337=) c.*98G>A (n.*98G>A) n.1042G>A c.909G>A (p.Glu303=) c.870G>A (p.Glu290=) c.1164G>A (p.Glu388=) c.1023G>A (p.Glu341=) | ClinVar |
| 12 | g.109798756T>A | CA386654549 | TRPV4 | c.1010A>T (p.Glu337Val) c.*97A>T (n.*97A>T) n.1041A>T c.908A>T (p.Glu303Val) c.869A>T (p.Glu290Val) c.1163A>T (p.Glu388Val) c.1022A>T (p.Glu341Val) | |
| 12 | g.109798756T>C | CA386654552 | TRPV4 | c.1010A>G (p.Glu337Gly) c.*97A>G (n.*97A>G) n.1041A>G c.908A>G (p.Glu303Gly) c.869A>G (p.Glu290Gly) c.1163A>G (p.Glu388Gly) c.1022A>G (p.Glu341Gly) | |
| 12 | g.109798756T>G | CA386654553 | TRPV4 | c.1010A>C (p.Glu337Ala) c.*97A>C (n.*97A>C) n.1041A>C c.908A>C (p.Glu303Ala) c.869A>C (p.Glu290Ala) c.1163A>C (p.Glu388Ala) c.1022A>C (p.Glu341Ala) | gnomAD v4 |
| 12 | g.109798759_109798770del | CA2695217258 | TRPV4 | c.999_1010del (p.Asp333_Arg336del) c.*86_*97del (n.*86_*97del) n.1030_1041del c.897_908del (p.Asp299_Arg302del) c.858_869del (p.Asp286_Arg289del) c.1152_1163del (p.Asp384_Arg387del) c.1011_1022del (p.Asp337_Arg340del) | |
| 12 | g.109798757C>A | CA386654555 | TRPV4 | c.1009G>T (p.Glu337Ter) c.*96G>T (n.*96G>T) n.1040G>T c.907G>T (p.Glu303Ter) c.868G>T (p.Glu290Ter) c.1162G>T (p.Glu388Ter) c.1021G>T (p.Glu341Ter) | |
| 12 | g.109798757C>G | CA386654556 | TRPV4 | c.1009G>C (p.Glu337Gln) c.*96G>C (n.*96G>C) n.1040G>C c.907G>C (p.Glu303Gln) c.868G>C (p.Glu290Gln) c.1162G>C (p.Glu388Gln) c.1021G>C (p.Glu341Gln) |