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 |
|---|---|---|---|---|---|
| 19 | g.41869091_41869108del | CA2695228814 | RPS19 | c.246_263del (p.Asp82_Ser87del) c.233_250del (p.Ile78_Gln83del) c.11_28del (p.Ile4_Gln9del) c.1071_1088del (n.1071_1088del) | |
| 19 | g.41869105C>A | CA406030256 | RPS19 | c.260C>A (p.Ser87Ter) c.247C>A (p.Gln83Lys) c.25C>A (p.Gln9Lys) c.1085C>A (n.1085C>A) | |
| 19 | g.41869105C>G | CA406030260 | RPS19 | c.260C>G (p.Ser87Ter) c.247C>G (p.Gln83Glu) c.25C>G (p.Gln9Glu) c.1085C>G (n.1085C>G) | |
| 19 | g.41869105C>T | CA406030258 | RPS19 | c.260C>T (p.Ser87Leu) c.247C>T (p.Gln83Ter) c.25C>T (p.Gln9Ter) c.1085C>T (n.1085C>T) | |
| 19 | g.41869106A>C | CA406030261 | RPS19 | c.261A>C (p.Ser87=) c.248A>C (p.Gln83Pro) c.26A>C (p.Gln9Pro) c.1086A>C (n.1086A>C) | |
| 19 | g.41869106A>G | CA406030263 | RPS19 | c.261A>G (p.Ser87=) c.248A>G (p.Gln83Arg) c.26A>G (p.Gln9Arg) c.1086A>G (n.1086A>G) | gnomAD v4 |
| 19 | g.41869106A>T | CA406030264 | RPS19 | c.261A>T (p.Ser87=) c.248A>T (p.Gln83Leu) c.26A>T (p.Gln9Leu) c.1086A>T (n.1086A>T) | |
| 19 | g.41869106dup | CA2695228819 | RPS19 | c.261dup (p.Glu88ArgfsTer?) c.248dup (p.Arg84GlufsTer?) c.26dup (p.Arg10GlufsTer?) c.1086dup (n.1086dup) c.261dup (p.Glu88ArgfsTer28) | |
| 19 | g.41869109_41869110del | CA2695228818 | RPS19 | c.264_265del (p.Lys89ThrfsTer?) c.251_252del (p.Arg84LysfsTer?) c.29_30del (p.Arg10LysfsTer?) c.1089_1090del (n.1089_1090del) c.264_265del (p.Lys89ThrfsTer26) | |
| 19 | g.41869107G>A | CA406030265 | RPS19 | c.262G>A (p.Glu88Lys) c.249G>A (p.Gln83=) c.27G>A (p.Gln9=) c.1087G>A (n.1087G>A) | dbSNP |
| 19 | g.41869107G>C | CA406030266 | RPS19 | c.262G>C (p.Glu88Gln) c.249G>C (p.Gln83His) c.27G>C (p.Gln9His) c.1087G>C (n.1087G>C) | |
| 19 | g.41869107G= | CA2336668877 | RPS19 | c.262G= (p.Glu88=) c.249G= (p.Gln83=) c.27G= (p.Gln9=) c.1087G= (n.1087G=) | |
| 19 | g.41869107G>T | CA406030268 | RPS19 | c.262G>T (p.Glu88Ter) c.249G>T (p.Gln83His) c.27G>T (p.Gln9His) c.1087G>T (n.1087G>T) | |
| 19 | g.41869108A= | CA2336668878 | RPS19 | c.263A= (p.Glu88=) c.250A= (p.Arg84=) c.28A= (p.Arg10=) c.1088A= (n.1088A=) | |
| 19 | g.41869108A>C | CA406030270 | RPS19 | c.263A>C (p.Glu88Ala) c.250A>C (p.Arg84=) c.28A>C (p.Arg10=) c.1088A>C (n.1088A>C) | |
| 19 | g.41869108A>G | CA406030272 | RPS19 | c.263A>G (p.Glu88Gly) c.250A>G (p.Arg84Gly) c.28A>G (p.Arg10Gly) c.1088A>G (n.1088A>G) | gnomAD v4 |
| 19 | g.41869108A>T | CA130766 | RPS19 | c.263A>T (p.Glu88Val) c.250A>T (p.Arg84Ter) c.28A>T (p.Arg10Ter) c.1088A>T (n.1088A>T) | ClinVar dbSNP |
| 19 | g.41869108dup | CA2695228820 | RPS19 | c.263dup (p.Lys89GlufsTer?) c.250dup (p.Arg84LysfsTer?) c.28dup (p.Arg10LysfsTer?) c.1088dup (n.1088dup) c.263dup (p.Lys89GlufsTer27) | |
| 19 | g.41869109del | CA2695228821 | RPS19 | c.264del (p.Lys89AsnfsTer?) c.251del (p.Arg84LysfsTer27) c.29del (p.Arg10LysfsTer27) c.1089del (n.1089del) | |
| 19 | g.41869109G>A | CA406030274 | RPS19 | c.264G>A (p.Glu88=) c.251G>A (p.Arg84Lys) c.29G>A (p.Arg10Lys) c.1089G>A (n.1089G>A) | |
| 19 | g.41869109G>C | CA406030275 | RPS19 | c.264G>C (p.Glu88Asp) c.251G>C (p.Arg84Thr) c.29G>C (p.Arg10Thr) c.1089G>C (n.1089G>C) | |
| 19 | g.41869109G>T | CA406030278 | RPS19 | c.264G>T (p.Glu88Asp) c.251G>T (p.Arg84Ile) c.29G>T (p.Arg10Ile) c.1089G>T (n.1089G>T) | |
| 19 | g.41869110A= | CA2336668879 | RPS19 | c.265A= (p.Lys89=) c.252A= (p.Arg84=) c.30A= (p.Arg10=) c.1090A= (n.1090A=) | |
| 19 | g.41869110A>C | CA406030280 | RPS19 | c.265A>C (p.Lys89Gln) c.252A>C (p.Arg84Ser) c.30A>C (p.Arg10Ser) c.1090A>C (n.1090A>C) | |
| 19 | g.41869110A>G | CA406030284 | RPS19 | c.265A>G (p.Lys89Glu) c.252A>G (p.Arg84=) c.30A>G (p.Arg10=) c.1090A>G (n.1090A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41869110A>T | CA406030282 | RPS19 | c.265A>T (p.Lys89Ter) c.252A>T (p.Arg84Ser) c.30A>T (p.Arg10Ser) c.1090A>T (n.1090A>T) | |
| 19 | g.41869111A>C | CA406030286 | RPS19 | c.266A>C (p.Lys89Thr) c.253A>C (p.Asn85His) c.31A>C (p.Asn11His) c.1091A>C (n.1091A>C) | |
| 19 | g.41869111A>G | CA406030288 | RPS19 | c.266A>G (p.Lys89Arg) c.253A>G (p.Asn85Asp) c.31A>G (p.Asn11Asp) c.1091A>G (n.1091A>G) | |
| 19 | g.41869111A>T | CA406030290 | RPS19 | c.266A>T (p.Lys89Ile) c.253A>T (p.Asn85Tyr) c.31A>T (p.Asn11Tyr) c.1091A>T (n.1091A>T) | |
| 19 | g.41869112A= | CA2336668880 | RPS19 | c.267A= (p.Lys89=) c.254A= (p.Asn85=) c.32A= (p.Asn11=) c.1092A= (n.1092A=) | |
| 19 | g.41869112A>C | CA406030293 | RPS19 | c.267A>C (p.Lys89Asn) c.254A>C (p.Asn85Thr) c.32A>C (p.Asn11Thr) c.1092A>C (n.1092A>C) | dbSNP |
| 19 | g.41869112A>G | CA406030296 | RPS19 | c.267A>G (p.Lys89=) c.254A>G (p.Asn85Ser) c.32A>G (p.Asn11Ser) c.1092A>G (n.1092A>G) | |
| 19 | g.41869112A>T | CA406030297 | RPS19 | c.267A>T (p.Lys89Asn) c.254A>T (p.Asn85Ile) c.32A>T (p.Asn11Ile) c.1092A>T (n.1092A>T) | |
| 19 | g.41869113C>A | CA406030300 | RPS19 | c.268C>A (p.Arg90=) c.255C>A (p.Asn85Lys) c.33C>A (p.Asn11Lys) c.1093C>A (n.1093C>A) | |
| 19 | g.41869113C= | CA2336668881 | RPS19 | c.268C= (p.Arg90=) c.255C= (p.Asn85=) c.33C= (p.Asn11=) c.1093C= (n.1093C=) | |
| 19 | g.41869113C>G | CA406030302 | RPS19 | c.268C>G (p.Arg90Gly) c.255C>G (p.Asn85Lys) c.33C>G (p.Asn11Lys) c.1093C>G (n.1093C>G) | |
| 19 | g.41869113C>T | CA9465356 | RPS19 | c.268C>T (p.Arg90Trp) c.255C>T (p.Asn85=) c.33C>T (p.Asn11=) c.1093C>T (n.1093C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41869114G>A | CA406030305 | RPS19 | c.269G>A (p.Arg90Gln) c.256G>A (p.Gly86Ser) c.34G>A (p.Gly12Ser) c.1094G>A (n.1094G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41869114G>C | CA406030307 | RPS19 | c.269G>C (p.Arg90Pro) c.256G>C (p.Gly86Arg) c.34G>C (p.Gly12Arg) c.1094G>C (n.1094G>C) | |
| 19 | g.41869114G= | CA2336668882 | RPS19 | c.269G= (p.Arg90=) c.256G= (p.Gly86=) c.34G= (p.Gly12=) c.1094G= (n.1094G=) | |
| 19 | g.41869114G>T | CA406030309 | RPS19 | c.269G>T (p.Arg90Leu) c.256G>T (p.Gly86Cys) c.34G>T (p.Gly12Cys) c.1094G>T (n.1094G>T) | |
| 19 | g.41869115dup | CA1139666469 | RPS19 | c.270dup (p.Arg91AlafsTer?) c.257dup (p.Val87ArgfsTer?) c.35dup (p.Val13ArgfsTer?) c.1095dup (n.1095dup) c.270dup (p.Arg91AlafsTer25) | ClinVar dbSNP |
| 19 | g.41869115G>A | CA406030316 | RPS19 | c.270G>A (p.Arg90=) c.257G>A (p.Gly86Asp) c.35G>A (p.Gly12Asp) c.1095G>A (n.1095G>A) | |
| 19 | g.41869115G>C | CA406030312 | RPS19 | c.270G>C (p.Arg90=) c.257G>C (p.Gly86Ala) c.35G>C (p.Gly12Ala) c.1095G>C (n.1095G>C) | |
| 19 | g.41869115G>T | CA406030314 | RPS19 | c.270G>T (p.Arg90=) c.257G>T (p.Gly86Val) c.35G>T (p.Gly12Val) c.1095G>T (n.1095G>T) | |
| 19 | g.41869115_41869116insA | CA2695228822 | RPS19 | c.270_271insA (p.Arg91ThrfsTer?) c.257_258insA (p.Val87ArgfsTer?) c.35_36insA (p.Val13ArgfsTer?) c.1095_1096insA (n.1095_1096insA) c.270_271insA (p.Arg91ThrfsTer25) | |
| 19 | g.41869116C>A | CA406030318 | RPS19 | c.271C>A (p.Arg91Ser) c.258C>A (p.Gly86=) c.36C>A (p.Gly12=) c.1096C>A (n.1096C>A) | |
| 19 | g.41869116C= | CA2336668883 | RPS19 | c.271C= (p.Arg91=) c.258C= (p.Gly86=) c.36C= (p.Gly12=) c.1096C= (n.1096C=) | |
| 19 | g.41869116C>G | CA406030320 | RPS19 | c.271C>G (p.Arg91Gly) c.258C>G (p.Gly86=) c.36C>G (p.Gly12=) c.1096C>G (n.1096C>G) | |
| 19 | g.41869116C>T | CA9465357 | RPS19 | c.271C>T (p.Arg91Cys) c.258C>T (p.Gly86=) c.36C>T (p.Gly12=) c.1096C>T (n.1096C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |