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 |
|---|---|---|---|---|---|
| 15 | g.38351420_38351435del | CA2580089333 | SPRED1 | c.1091_1106del (p.Tyr364CysfsTer?) c.1127_1142del (p.Tyr376CysfsTer?) c.869_884del (p.Tyr290CysfsTer?) c.1028_1043del (p.Tyr343CysfsTer?) | ClinVar |
| 15 | g.38351428_38351431del | CA658658278 | SPRED1 | c.1099_1102del (p.Ser367AlafsTer?) c.1135_1138del (p.Ser379AlafsTer?) c.877_880del (p.Ser293AlafsTer?) c.1036_1039del (p.Ser346AlafsTer?) | ClinVar dbSNP |
| 15 | g.38351431T>A | CA391934137 | SPRED1 | c.1102T>A (p.Cys368Ser) c.1138T>A (p.Cys380Ser) c.880T>A (p.Cys294Ser) c.1039T>A (p.Cys347Ser) | |
| 15 | g.38351431T>C | CA391934138 | SPRED1 | c.1102T>C (p.Cys368Arg) c.1138T>C (p.Cys380Arg) c.880T>C (p.Cys294Arg) c.1039T>C (p.Cys347Arg) | |
| 15 | g.38351431T>G | CA391934140 | SPRED1 | c.1102T>G (p.Cys368Gly) c.1138T>G (p.Cys380Gly) c.880T>G (p.Cys294Gly) c.1039T>G (p.Cys347Gly) | |
| 15 | g.38351432G>A | CA391934142 | SPRED1 | c.1103G>A (p.Cys368Tyr) c.1139G>A (p.Cys380Tyr) c.881G>A (p.Cys294Tyr) c.1040G>A (p.Cys347Tyr) | |
| 15 | g.38351432G>C | CA391934144 | SPRED1 | c.1103G>C (p.Cys368Ser) c.1139G>C (p.Cys380Ser) c.881G>C (p.Cys294Ser) c.1040G>C (p.Cys347Ser) | ClinVar dbSNP |
| 15 | g.38351432G>T | CA391934143 | SPRED1 | c.1103G>T (p.Cys368Phe) c.1139G>T (p.Cys380Phe) c.881G>T (p.Cys294Phe) c.1040G>T (p.Cys347Phe) | |
| 15 | g.38351433C>A | CA391934145 | SPRED1 | c.1104C>A (p.Cys368Ter) c.1140C>A (p.Cys380Ter) c.882C>A (p.Cys294Ter) c.1041C>A (p.Cys347Ter) | |
| 15 | g.38351433C>G | CA391934147 | SPRED1 | c.1104C>G (p.Cys368Trp) c.1140C>G (p.Cys380Trp) c.882C>G (p.Cys294Trp) c.1041C>G (p.Cys347Trp) | |
| 15 | g.38351433C>T | CA490012190 | SPRED1 | c.1104C>T (p.Cys368=) c.1140C>T (p.Cys380=) c.882C>T (p.Cys294=) c.1041C>T (p.Cys347=) | gnomAD v4 |
| 15 | g.38351434A= | CA2170812714 | SPRED1 | c.1105A= (p.Met369=) c.1141A= (p.Met381=) c.883A= (p.Met295=) c.1042A= (p.Met348=) | |
| 15 | g.38351434A>C | CA391934148 | SPRED1 | c.1105A>C (p.Met369Leu) c.1141A>C (p.Met381Leu) c.883A>C (p.Met295Leu) c.1042A>C (p.Met348Leu) | |
| 15 | g.38351434A>G | CA391934150 | SPRED1 | c.1105A>G (p.Met369Val) c.1141A>G (p.Met381Val) c.883A>G (p.Met295Val) c.1042A>G (p.Met348Val) | |
| 15 | g.38351434A>T | CA7470232 | SPRED1 | c.1105A>T (p.Met369Leu) c.1141A>T (p.Met381Leu) c.883A>T (p.Met295Leu) c.1042A>T (p.Met348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351435T>A | CA391934152 | SPRED1 | c.1106T>A (p.Met369Lys) c.1142T>A (p.Met381Lys) c.884T>A (p.Met295Lys) c.1043T>A (p.Met348Lys) | |
| 15 | g.38351435T>C | CA391934153 | SPRED1 | c.1106T>C (p.Met369Thr) c.1142T>C (p.Met381Thr) c.884T>C (p.Met295Thr) c.1043T>C (p.Met348Thr) | |
| 15 | g.38351435T>G | CA391934155 | SPRED1 | c.1106T>G (p.Met369Arg) c.1142T>G (p.Met381Arg) c.884T>G (p.Met295Arg) c.1043T>G (p.Met348Arg) | |
| 15 | g.38351436G>A | CA391934157 | SPRED1 | c.1107G>A (p.Met369Ile) c.1143G>A (p.Met381Ile) c.885G>A (p.Met295Ile) c.1044G>A (p.Met348Ile) | gnomAD v4 |
| 15 | g.38351436G>C | CA391934159 | SPRED1 | c.1107G>C (p.Met369Ile) c.1143G>C (p.Met381Ile) c.885G>C (p.Met295Ile) c.1044G>C (p.Met348Ile) | |
| 15 | g.38351436G>T | CA391934160 | SPRED1 | c.1107G>T (p.Met369Ile) c.1143G>T (p.Met381Ile) c.885G>T (p.Met295Ile) c.1044G>T (p.Met348Ile) | gnomAD v4 |
| 15 | g.38351437C>A | CA391934165 | SPRED1 | c.1108C>A (p.Leu370Ile) c.1144C>A (p.Leu382Ile) c.886C>A (p.Leu296Ile) c.1045C>A (p.Leu349Ile) | |
| 15 | g.38351437C= | CA2170812715 | SPRED1 | c.1108C= (p.Leu370=) c.1144C= (p.Leu382=) c.886C= (p.Leu296=) c.1045C= (p.Leu349=) | |
| 15 | g.38351437C>G | CA391934163 | SPRED1 | c.1108C>G (p.Leu370Val) c.1144C>G (p.Leu382Val) c.886C>G (p.Leu296Val) c.1045C>G (p.Leu349Val) | |
| 15 | g.38351437C>T | CA142268 | SPRED1 | c.1108C>T (p.Leu370Phe) c.1144C>T (p.Leu382Phe) c.886C>T (p.Leu296Phe) c.1045C>T (p.Leu349Phe) | ClinVar dbSNP |
| 15 | g.38351438T>A | CA391934166 | SPRED1 | c.1109T>A (p.Leu370His) c.1145T>A (p.Leu382His) c.887T>A (p.Leu296His) c.1046T>A (p.Leu349His) | |
| 15 | g.38351438T>C | CA391934170 | SPRED1 | c.1109T>C (p.Leu370Pro) c.1145T>C (p.Leu382Pro) c.887T>C (p.Leu296Pro) c.1046T>C (p.Leu349Pro) | ClinVar dbSNP |
| 15 | g.38351438T>G | CA391934168 | SPRED1 | c.1109T>G (p.Leu370Arg) c.1145T>G (p.Leu382Arg) c.887T>G (p.Leu296Arg) c.1046T>G (p.Leu349Arg) | |
| 15 | g.38351439del | CA645591364 | SPRED1 | c.1110del (p.Cys371ValfsTer?) c.1146del (p.Cys383ValfsTer?) c.888del (p.Cys297ValfsTer?) c.1047del (p.Cys350ValfsTer?) | COSMIC |
| 15 | g.38351439C>A | CA490012195 | SPRED1 | c.1110C>A (p.Leu370=) c.1146C>A (p.Leu382=) c.888C>A (p.Leu296=) c.1047C>A (p.Leu349=) | |
| 15 | g.38351439C= | CA2170812716 | SPRED1 | c.1110C= (p.Leu370=) c.1146C= (p.Leu382=) c.888C= (p.Leu296=) c.1047C= (p.Leu349=) | |
| 15 | g.38351439C>G | CA10576976 | SPRED1 | c.1110C>G (p.Leu370=) c.1146C>G (p.Leu382=) c.888C>G (p.Leu296=) c.1047C>G (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351439C>T | CA490012196 | SPRED1 | c.1110C>T (p.Leu370=) c.1146C>T (p.Leu382=) c.888C>T (p.Leu296=) c.1047C>T (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.38351440T>A | CA391934173 | SPRED1 | c.1111T>A (p.Cys371Ser) c.1147T>A (p.Cys383Ser) c.889T>A (p.Cys297Ser) c.1048T>A (p.Cys350Ser) | |
| 15 | g.38351440T>C | CA391934171 | SPRED1 | c.1111T>C (p.Cys371Arg) c.1147T>C (p.Cys383Arg) c.889T>C (p.Cys297Arg) c.1048T>C (p.Cys350Arg) | |
| 15 | g.38351440T>G | CA391934172 | SPRED1 | c.1111T>G (p.Cys371Gly) c.1147T>G (p.Cys383Gly) c.889T>G (p.Cys297Gly) c.1048T>G (p.Cys350Gly) | |
| 15 | g.38351441G>A | CA391934175 | SPRED1 | c.1112G>A (p.Cys371Tyr) c.1148G>A (p.Cys383Tyr) c.890G>A (p.Cys297Tyr) c.1049G>A (p.Cys350Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351441G>C | CA391934177 | SPRED1 | c.1112G>C (p.Cys371Ser) c.1148G>C (p.Cys383Ser) c.890G>C (p.Cys297Ser) c.1049G>C (p.Cys350Ser) | ClinVar |
| 15 | g.38351441G= | CA2170812717 | SPRED1 | c.1112G= (p.Cys371=) c.1148G= (p.Cys383=) c.890G= (p.Cys297=) c.1049G= (p.Cys350=) | |
| 15 | g.38351441G>T | CA391934178 | SPRED1 | c.1112G>T (p.Cys371Phe) c.1148G>T (p.Cys383Phe) c.890G>T (p.Cys297Phe) c.1049G>T (p.Cys350Phe) | |
| 15 | g.38351442T>A | CA391934180 | SPRED1 | c.1113T>A (p.Cys371Ter) c.1149T>A (p.Cys383Ter) c.891T>A (p.Cys297Ter) c.1050T>A (p.Cys350Ter) | |
| 15 | g.38351442T>C | CA490012199 | SPRED1 | c.1113T>C (p.Cys371=) c.1149T>C (p.Cys383=) c.891T>C (p.Cys297=) c.1050T>C (p.Cys350=) | |
| 15 | g.38351442T>G | CA391934182 | SPRED1 | c.1113T>G (p.Cys371Trp) c.1149T>G (p.Cys383Trp) c.891T>G (p.Cys297Trp) c.1050T>G (p.Cys350Trp) | |
| 15 | g.38351443G>A | CA391934184 | SPRED1 | c.1114G>A (p.Ala372Thr) c.1150G>A (p.Ala384Thr) c.892G>A (p.Ala298Thr) c.1051G>A (p.Ala351Thr) | |
| 15 | g.38351443G>C | CA391934185 | SPRED1 | c.1114G>C (p.Ala372Pro) c.1150G>C (p.Ala384Pro) c.892G>C (p.Ala298Pro) c.1051G>C (p.Ala351Pro) | |
| 15 | g.38351443G>T | CA391934186 | SPRED1 | c.1114G>T (p.Ala372Ser) c.1150G>T (p.Ala384Ser) c.892G>T (p.Ala298Ser) c.1051G>T (p.Ala351Ser) | gnomAD v2 gnomAD v4 |
| 15 | g.38351444C>A | CA391934188 | SPRED1 | c.1115C>A (p.Ala372Glu) c.1151C>A (p.Ala384Glu) c.893C>A (p.Ala298Glu) c.1052C>A (p.Ala351Glu) | |
| 15 | g.38351444C>G | CA391934190 | SPRED1 | c.1115C>G (p.Ala372Gly) c.1151C>G (p.Ala384Gly) c.893C>G (p.Ala298Gly) c.1052C>G (p.Ala351Gly) | |
| 15 | g.38351444C>T | CA391934192 | SPRED1 | c.1115C>T (p.Ala372Val) c.1151C>T (p.Ala384Val) c.893C>T (p.Ala298Val) c.1052C>T (p.Ala351Val) | gnomAD v4 |
| 15 | g.38351445A>C | CA490012203 | SPRED1 | c.1116A>C (p.Ala372=) c.1152A>C (p.Ala384=) c.894A>C (p.Ala298=) c.1053A>C (p.Ala351=) |