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.38351423_38351427delinsAAGTT | CA2170812711 | SPRED1 | c.1094_1098delinsAAGTT (p.Gln365=) c.1130_1134delinsAAGTT (p.Gln377=) c.872_876delinsAAGTT (p.Gln291=) c.1031_1035delinsAAGTT (p.Gln344=) | |
| 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.38351425G>A | CA7470231 | SPRED1 | c.1096G>A (p.Val366Ile) c.1132G>A (p.Val378Ile) c.874G>A (p.Val292Ile) c.1033G>A (p.Val345Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351425G>C | CA391934116 | SPRED1 | c.1096G>C (p.Val366Leu) c.1132G>C (p.Val378Leu) c.874G>C (p.Val292Leu) c.1033G>C (p.Val345Leu) | |
| 15 | g.38351425G= | CA2170812712 | SPRED1 | c.1096G= (p.Val366=) c.1132G= (p.Val378=) c.874G= (p.Val292=) c.1033G= (p.Val345=) | |
| 15 | g.38351425G>T | CA391934114 | SPRED1 | c.1096G>T (p.Val366Phe) c.1132G>T (p.Val378Phe) c.874G>T (p.Val292Phe) c.1033G>T (p.Val345Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351426T>A | CA391934118 | SPRED1 | c.1097T>A (p.Val366Asp) c.1133T>A (p.Val378Asp) c.875T>A (p.Val292Asp) c.1034T>A (p.Val345Asp) | |
| 15 | g.38351426T>C | CA391934119 | SPRED1 | c.1097T>C (p.Val366Ala) c.1133T>C (p.Val378Ala) c.875T>C (p.Val292Ala) c.1034T>C (p.Val345Ala) | |
| 15 | g.38351426T>G | CA391934121 | SPRED1 | c.1097T>G (p.Val366Gly) c.1133T>G (p.Val378Gly) c.875T>G (p.Val292Gly) c.1034T>G (p.Val345Gly) | |
| 15 | g.38351427T>A | CA490012179 | SPRED1 | c.1098T>A (p.Val366=) c.1134T>A (p.Val378=) c.876T>A (p.Val292=) c.1035T>A (p.Val345=) | |
| 15 | g.38351427T>C | CA490012180 | SPRED1 | c.1098T>C (p.Val366=) c.1134T>C (p.Val378=) c.876T>C (p.Val292=) c.1035T>C (p.Val345=) | |
| 15 | g.38351427T>G | CA490012182 | SPRED1 | c.1098T>G (p.Val366=) c.1134T>G (p.Val378=) c.876T>G (p.Val292=) c.1035T>G (p.Val345=) | ClinVar dbSNP |
| 15 | g.38351427T= | CA2170812713 | SPRED1 | c.1098T= (p.Val366=) c.1134T= (p.Val378=) c.876T= (p.Val292=) c.1035T= (p.Val345=) | |
| 15 | g.38351428A>C | CA391934123 | SPRED1 | c.1099A>C (p.Ser367Arg) c.1135A>C (p.Ser379Arg) c.877A>C (p.Ser293Arg) c.1036A>C (p.Ser346Arg) | |
| 15 | g.38351428A>G | CA391934124 | SPRED1 | c.1099A>G (p.Ser367Gly) c.1135A>G (p.Ser379Gly) c.877A>G (p.Ser293Gly) c.1036A>G (p.Ser346Gly) | |
| 15 | g.38351428A>T | CA391934126 | SPRED1 | c.1099A>T (p.Ser367Cys) c.1135A>T (p.Ser379Cys) c.877A>T (p.Ser293Cys) c.1036A>T (p.Ser346Cys) | |
| 15 | g.38351429G>A | CA391934131 | SPRED1 | c.1100G>A (p.Ser367Asn) c.1136G>A (p.Ser379Asn) c.878G>A (p.Ser293Asn) c.1037G>A (p.Ser346Asn) | gnomAD v4 |
| 15 | g.38351429G>C | CA391934128 | SPRED1 | c.1100G>C (p.Ser367Thr) c.1136G>C (p.Ser379Thr) c.878G>C (p.Ser293Thr) c.1037G>C (p.Ser346Thr) | |
| 15 | g.38351429G>T | CA391934129 | SPRED1 | c.1100G>T (p.Ser367Ile) c.1136G>T (p.Ser379Ile) c.878G>T (p.Ser293Ile) c.1037G>T (p.Ser346Ile) | |
| 15 | g.38351430T>A | CA391934133 | SPRED1 | c.1101T>A (p.Ser367Arg) c.1137T>A (p.Ser379Arg) c.879T>A (p.Ser293Arg) c.1038T>A (p.Ser346Arg) | |
| 15 | g.38351430T>C | CA490012185 | SPRED1 | c.1101T>C (p.Ser367=) c.1137T>C (p.Ser379=) c.879T>C (p.Ser293=) c.1038T>C (p.Ser346=) | |
| 15 | g.38351430T>G | CA391934135 | SPRED1 | c.1101T>G (p.Ser367Arg) c.1137T>G (p.Ser379Arg) c.879T>G (p.Ser293Arg) c.1038T>G (p.Ser346Arg) | |
| 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 |