WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435604C>A | CA381701536 | DHCR7 | c.1199G>T (p.Trp400Leu) c.1025G>T (p.Trp342Leu) c.1250G>T (p.Trp417Leu) c.1235G>T (p.Trp412Leu) c.1207G>T (p.Gly403Trp) n.1239G>T c.614G>T (p.Trp205Leu) c.1103G>T (p.Trp368Leu) c.700G>T (p.Gly234Trp) c.449G>T (p.Trp150Leu) c.319+2208G>T c.1333G>T (p.Gly445Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71435604C= | CA1981486910 | DHCR7 | c.1199G= (p.Trp400=) c.1025G= (p.Trp342=) c.1250G= (p.Trp417=) c.1235G= (p.Trp412=) c.1207G= (p.Gly403=) n.1239G= c.614G= (p.Trp205=) c.1103G= (p.Trp368=) c.700G= (p.Gly234=) c.449G= (p.Trp150=) c.319+2208G= c.1333G= (p.Gly445=) | |
| 11 | g.71435604C>G | CA381701537 | DHCR7 | c.1199G>C (p.Trp400Ser) c.1025G>C (p.Trp342Ser) c.1250G>C (p.Trp417Ser) c.1235G>C (p.Trp412Ser) c.1207G>C (p.Gly403Arg) n.1239G>C c.614G>C (p.Trp205Ser) c.1103G>C (p.Trp368Ser) c.700G>C (p.Gly234Arg) c.449G>C (p.Trp150Ser) c.319+2208G>C c.1333G>C (p.Gly445Arg) | |
| 11 | g.71435604C>T | CA16041545 | DHCR7 | c.1199G>A (p.Trp400Ter) c.1025G>A (p.Trp342Ter) c.1250G>A (p.Trp417Ter) c.1235G>A (p.Trp412Ter) c.1207G>A (p.Gly403Arg) n.1239G>A c.614G>A (p.Trp205Ter) c.1103G>A (p.Trp368Ter) c.700G>A (p.Gly234Arg) c.449G>A (p.Trp150Ter) c.319+2208G>A c.1333G>A (p.Gly445Arg) | ClinVar dbSNP |
| 11 | g.71435605A= | CA1981486911 | DHCR7 | c.1198T= (p.Trp400=) c.1024T= (p.Trp342=) c.1249T= (p.Trp417=) c.1234T= (p.Trp412=) c.1206T= (p.Ser402=) n.1238T= c.613T= (p.Trp205=) c.1102T= (p.Trp368=) c.699T= (p.Ser233=) c.448T= (p.Trp150=) c.319+2207T= c.1332T= (p.Ser444=) | |
| 11 | g.71435605A>C | CA224324239 | DHCR7 | c.1198T>G (p.Trp400Gly) c.1024T>G (p.Trp342Gly) c.1249T>G (p.Trp417Gly) c.1234T>G (p.Trp412Gly) c.1206T>G (p.Ser402=) n.1238T>G c.613T>G (p.Trp205Gly) c.1102T>G (p.Trp368Gly) c.699T>G (p.Ser233=) c.448T>G (p.Trp150Gly) c.319+2207T>G c.1332T>G (p.Ser444=) | dbSNP COSMIC COSMIC |
| 11 | g.71435605A>G | CA381701541 | DHCR7 | c.1198T>C (p.Trp400Arg) c.1024T>C (p.Trp342Arg) c.1249T>C (p.Trp417Arg) c.1234T>C (p.Trp412Arg) c.1206T>C (p.Ser402=) n.1238T>C c.613T>C (p.Trp205Arg) c.1102T>C (p.Trp368Arg) c.699T>C (p.Ser233=) c.448T>C (p.Trp150Arg) c.319+2207T>C c.1332T>C (p.Ser444=) | gnomAD v4 |
| 11 | g.71435605A>T | CA381701539 | DHCR7 | c.1198T>A (p.Trp400Arg) c.1024T>A (p.Trp342Arg) c.1249T>A (p.Trp417Arg) c.1234T>A (p.Trp412Arg) c.1206T>A (p.Ser402=) n.1238T>A c.613T>A (p.Trp205Arg) c.1102T>A (p.Trp368Arg) c.699T>A (p.Ser233=) c.448T>A (p.Trp150Arg) c.319+2207T>A c.1332T>A (p.Ser444=) | |
| 11 | g.71435606G>A | CA381701545 | DHCR7 | c.1197C>T (p.Phe399=) c.1023C>T (p.Phe341=) c.1248C>T (p.Phe416=) c.1233C>T (p.Phe411=) c.1205C>T (p.Ser402Phe) n.1237C>T c.612C>T (p.Phe204=) c.1101C>T (p.Phe367=) c.698C>T (p.Ser233Phe) c.447C>T (p.Phe149=) c.319+2206C>T c.1331C>T (p.Ser444Phe) | |
| 11 | g.71435606G>C | CA381701543 | DHCR7 | c.1197C>G (p.Phe399Leu) c.1023C>G (p.Phe341Leu) c.1248C>G (p.Phe416Leu) c.1233C>G (p.Phe411Leu) c.1205C>G (p.Ser402Cys) n.1237C>G c.612C>G (p.Phe204Leu) c.1101C>G (p.Phe367Leu) c.698C>G (p.Ser233Cys) c.447C>G (p.Phe149Leu) c.319+2206C>G c.1331C>G (p.Ser444Cys) | |
| 11 | g.71435606G>T | CA381701547 | DHCR7 | c.1197C>A (p.Phe399Leu) c.1023C>A (p.Phe341Leu) c.1248C>A (p.Phe416Leu) c.1233C>A (p.Phe411Leu) c.1205C>A (p.Ser402Tyr) n.1237C>A c.612C>A (p.Phe204Leu) c.1101C>A (p.Phe367Leu) c.698C>A (p.Ser233Tyr) c.447C>A (p.Phe149Leu) c.319+2206C>A c.1331C>A (p.Ser444Tyr) | |
| 11 | g.71435607A= | CA1981486912 | DHCR7 | c.1196T= (p.Phe399=) c.1022T= (p.Phe341=) c.1247T= (p.Phe416=) c.1232T= (p.Phe411=) c.1204T= (p.Ser402=) n.1236T= c.611T= (p.Phe204=) c.1100T= (p.Phe367=) c.697T= (p.Ser233=) c.446T= (p.Phe149=) c.319+2205T= c.1330T= (p.Ser444=) | |
| 11 | g.71435607A>C | CA381701548 | DHCR7 | c.1196T>G (p.Phe399Cys) c.1022T>G (p.Phe341Cys) c.1247T>G (p.Phe416Cys) c.1232T>G (p.Phe411Cys) c.1204T>G (p.Ser402Ala) n.1236T>G c.611T>G (p.Phe204Cys) c.1100T>G (p.Phe367Cys) c.697T>G (p.Ser233Ala) c.446T>G (p.Phe149Cys) c.319+2205T>G c.1330T>G (p.Ser444Ala) | |
| 11 | g.71435607A>G | CA381701550 | DHCR7 | c.1196T>C (p.Phe399Ser) c.1022T>C (p.Phe341Ser) c.1247T>C (p.Phe416Ser) c.1232T>C (p.Phe411Ser) c.1204T>C (p.Ser402Pro) n.1236T>C c.611T>C (p.Phe204Ser) c.1100T>C (p.Phe367Ser) c.697T>C (p.Ser233Pro) c.446T>C (p.Phe149Ser) c.319+2205T>C c.1330T>C (p.Ser444Pro) | |
| 11 | g.71435607A>T | CA381701551 | DHCR7 | c.1196T>A (p.Phe399Tyr) c.1022T>A (p.Phe341Tyr) c.1247T>A (p.Phe416Tyr) c.1232T>A (p.Phe411Tyr) c.1204T>A (p.Ser402Thr) n.1236T>A c.611T>A (p.Phe204Tyr) c.1100T>A (p.Phe367Tyr) c.697T>A (p.Ser233Thr) c.446T>A (p.Phe149Tyr) c.319+2205T>A c.1330T>A (p.Ser444Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435608A>C | CA381701553 | DHCR7 | c.1195T>G (p.Phe399Val) c.1021T>G (p.Phe341Val) c.1246T>G (p.Phe416Val) c.1231T>G (p.Phe411Val) c.1203T>G (p.Ala401=) n.1235T>G c.610T>G (p.Phe204Val) c.1099T>G (p.Phe367Val) c.696T>G (p.Ala232=) c.445T>G (p.Phe149Val) c.319+2204T>G c.1329T>G (p.Ala443=) | |
| 11 | g.71435608A>G | CA381701554 | DHCR7 | c.1195T>C (p.Phe399Leu) c.1021T>C (p.Phe341Leu) c.1246T>C (p.Phe416Leu) c.1231T>C (p.Phe411Leu) c.1203T>C (p.Ala401=) n.1235T>C c.610T>C (p.Phe204Leu) c.1099T>C (p.Phe367Leu) c.696T>C (p.Ala232=) c.445T>C (p.Phe149Leu) c.319+2204T>C c.1329T>C (p.Ala443=) | gnomAD v4 |
| 11 | g.71435608A>T | CA381701555 | DHCR7 | c.1195T>A (p.Phe399Ile) c.1021T>A (p.Phe341Ile) c.1246T>A (p.Phe416Ile) c.1231T>A (p.Phe411Ile) c.1203T>A (p.Ala401=) n.1235T>A c.610T>A (p.Phe204Ile) c.1099T>A (p.Phe367Ile) c.696T>A (p.Ala232=) c.445T>A (p.Phe149Ile) c.319+2204T>A c.1329T>A (p.Ala443=) | |
| 11 | g.71435609G>A | CA381701557 | DHCR7 | c.1194C>T (p.Gly398=) c.1020C>T (p.Gly340=) c.1245C>T (p.Gly415=) c.1230C>T (p.Gly410=) c.1202C>T (p.Ala401Val) n.1234C>T c.609C>T (p.Gly203=) c.1098C>T (p.Gly366=) c.695C>T (p.Ala232Val) c.444C>T (p.Gly148=) c.319+2203C>T c.1328C>T (p.Ala443Val) | ClinVar |
| 11 | g.71435609G>C | CA381701559 | DHCR7 | c.1194C>G (p.Gly398=) c.1020C>G (p.Gly340=) c.1245C>G (p.Gly415=) c.1230C>G (p.Gly410=) c.1202C>G (p.Ala401Gly) n.1234C>G c.609C>G (p.Gly203=) c.1098C>G (p.Gly366=) c.695C>G (p.Ala232Gly) c.444C>G (p.Gly148=) c.319+2203C>G c.1328C>G (p.Ala443Gly) | |
| 11 | g.71435609G>T | CA381701560 | DHCR7 | c.1194C>A (p.Gly398=) c.1020C>A (p.Gly340=) c.1245C>A (p.Gly415=) c.1230C>A (p.Gly410=) c.1202C>A (p.Ala401Asp) n.1234C>A c.609C>A (p.Gly203=) c.1098C>A (p.Gly366=) c.695C>A (p.Ala232Asp) c.444C>A (p.Gly148=) c.319+2203C>A c.1328C>A (p.Ala443Asp) | |
| 11 | g.71435609_71435610delinsGC | CA1981486913 | DHCR7 | c.1193_1194delinsGC (p.Gly398=) c.1019_1020delinsGC (p.Gly340=) c.1244_1245delinsGC (p.Gly415=) c.1229_1230delinsGC (p.Gly410=) c.1201_1202delinsGC (p.Ala401=) n.1233_1234delinsGC c.608_609delinsGC (p.Gly203=) c.1097_1098delinsGC (p.Gly366=) c.694_695delinsGC (p.Ala232=) c.443_444delinsGC (p.Gly148=) c.319+2202_319+2203delinsGC c.1327_1328delinsGC (p.Ala443=) | |
| 11 | g.71435610C>A | CA381701562 | DHCR7 | c.1193G>T (p.Gly398Val) c.1019G>T (p.Gly340Val) c.1244G>T (p.Gly415Val) c.1229G>T (p.Gly410Val) c.1201G>T (p.Ala401Ser) n.1233G>T c.608G>T (p.Gly203Val) c.1097G>T (p.Gly366Val) c.694G>T (p.Ala232Ser) c.443G>T (p.Gly148Val) c.319+2202G>T c.1327G>T (p.Ala443Ser) | |
| 11 | g.71435610C>G | CA381701564 | DHCR7 | c.1193G>C (p.Gly398Ala) c.1019G>C (p.Gly340Ala) c.1244G>C (p.Gly415Ala) c.1229G>C (p.Gly410Ala) c.1201G>C (p.Ala401Pro) n.1233G>C c.608G>C (p.Gly203Ala) c.1097G>C (p.Gly366Ala) c.694G>C (p.Ala232Pro) c.443G>C (p.Gly148Ala) c.319+2202G>C c.1327G>C (p.Ala443Pro) | |
| 11 | g.71435610C>T | CA381701565 | DHCR7 | c.1193G>A (p.Gly398Asp) c.1019G>A (p.Gly340Asp) c.1244G>A (p.Gly415Asp) c.1229G>A (p.Gly410Asp) c.1201G>A (p.Ala401Thr) n.1233G>A c.608G>A (p.Gly203Asp) c.1097G>A (p.Gly366Asp) c.694G>A (p.Ala232Thr) c.443G>A (p.Gly148Asp) c.319+2202G>A c.1327G>A (p.Ala443Thr) | gnomAD v4 |
| 11 | g.71435612del | CA939372022 | DHCR7 | c.1193del (p.Gly398AlafsTer15) c.1019del (p.Gly340AlafsTer15) c.1244del (p.Gly415AlafsTer15) c.1229del (p.Gly410AlafsTer15) c.1201del (p.Ala401LeufsTer?) n.1233del c.608del (p.Gly203AlafsTer15) c.1097del (p.Gly366AlafsTer15) c.694del (p.Ala232LeufsTer?) c.443del (p.Gly148AlafsTer15) c.319+2202del c.1327del (p.Ala443LeufsTer?) | ClinVar dbSNP |
| 11 | g.71435611C>A | CA381701570 | DHCR7 | c.1192G>T (p.Gly398Cys) c.1018G>T (p.Gly340Cys) c.1243G>T (p.Gly415Cys) c.1228G>T (p.Gly410Cys) c.1200G>T (p.Arg400=) n.1232G>T c.607G>T (p.Gly203Cys) c.1096G>T (p.Gly366Cys) c.693G>T (p.Arg231=) c.442G>T (p.Gly148Cys) c.319+2201G>T c.1326G>T (p.Arg442=) | |
| 11 | g.71435611C>G | CA381701568 | DHCR7 | c.1192G>C (p.Gly398Arg) c.1018G>C (p.Gly340Arg) c.1243G>C (p.Gly415Arg) c.1228G>C (p.Gly410Arg) c.1200G>C (p.Arg400=) n.1232G>C c.607G>C (p.Gly203Arg) c.1096G>C (p.Gly366Arg) c.693G>C (p.Arg231=) c.442G>C (p.Gly148Arg) c.319+2201G>C c.1326G>C (p.Arg442=) | |
| 11 | g.71435611C>T | CA381701567 | DHCR7 | c.1192G>A (p.Gly398Ser) c.1018G>A (p.Gly340Ser) c.1243G>A (p.Gly415Ser) c.1228G>A (p.Gly410Ser) c.1200G>A (p.Arg400=) n.1232G>A c.607G>A (p.Gly203Ser) c.1096G>A (p.Gly366Ser) c.693G>A (p.Arg231=) c.442G>A (p.Gly148Ser) c.319+2201G>A c.1326G>A (p.Arg442=) | gnomAD v4 |
| 11 | g.71435612C>A | CA381701572 | DHCR7 | c.1191G>T (p.Ser397=) c.1017G>T (p.Ser339=) c.1242G>T (p.Ser414=) c.1227G>T (p.Ser409=) c.1199G>T (p.Arg400Leu) n.1231G>T c.606G>T (p.Ser202=) c.1095G>T (p.Ser365=) c.692G>T (p.Arg231Leu) c.441G>T (p.Ser147=) c.319+2200G>T c.1325G>T (p.Arg442Leu) | |
| 11 | g.71435612C= | CA1981486914 | DHCR7 | c.1191G= (p.Ser397=) c.1017G= (p.Ser339=) c.1242G= (p.Ser414=) c.1227G= (p.Ser409=) c.1199G= (p.Arg400=) n.1231G= c.606G= (p.Ser202=) c.1095G= (p.Ser365=) c.692G= (p.Arg231=) c.441G= (p.Ser147=) c.319+2200G= c.1325G= (p.Arg442=) | |
| 11 | g.71435612C>G | CA381701573 | DHCR7 | c.1191G>C (p.Ser397=) c.1017G>C (p.Ser339=) c.1242G>C (p.Ser414=) c.1227G>C (p.Ser409=) c.1199G>C (p.Arg400Pro) n.1231G>C c.606G>C (p.Ser202=) c.1095G>C (p.Ser365=) c.692G>C (p.Arg231Pro) c.441G>C (p.Ser147=) c.319+2200G>C c.1325G>C (p.Arg442Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435612C>T | CA6162290 | DHCR7 | c.1191G>A (p.Ser397=) c.1017G>A (p.Ser339=) c.1242G>A (p.Ser414=) c.1227G>A (p.Ser409=) c.1199G>A (p.Arg400Gln) n.1231G>A c.606G>A (p.Ser202=) c.1095G>A (p.Ser365=) c.692G>A (p.Arg231Gln) c.441G>A (p.Ser147=) c.319+2200G>A c.1325G>A (p.Arg442Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71435613G>A | CA6162291 | DHCR7 | c.1190C>T (p.Ser397Leu) c.1016C>T (p.Ser339Leu) c.1241C>T (p.Ser414Leu) c.1226C>T (p.Ser409Leu) c.1198C>T (p.Arg400Trp) n.1230C>T c.605C>T (p.Ser202Leu) c.1094C>T (p.Ser365Leu) c.691C>T (p.Arg231Trp) c.440C>T (p.Ser147Leu) c.319+2199C>T c.1324C>T (p.Arg442Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435613G>C | CA381701579 | DHCR7 | c.1190C>G (p.Ser397Trp) c.1016C>G (p.Ser339Trp) c.1241C>G (p.Ser414Trp) c.1226C>G (p.Ser409Trp) c.1198C>G (p.Arg400Gly) n.1230C>G c.605C>G (p.Ser202Trp) c.1094C>G (p.Ser365Trp) c.691C>G (p.Arg231Gly) c.440C>G (p.Ser147Trp) c.319+2199C>G c.1324C>G (p.Arg442Gly) | |
| 11 | g.71435613G= | CA1981486915 | DHCR7 | c.1190C= (p.Ser397=) c.1016C= (p.Ser339=) c.1241C= (p.Ser414=) c.1226C= (p.Ser409=) c.1198C= (p.Arg400=) n.1230C= c.605C= (p.Ser202=) c.1094C= (p.Ser365=) c.691C= (p.Arg231=) c.440C= (p.Ser147=) c.319+2199C= c.1324C= (p.Arg442=) | |
| 11 | g.71435613G>T | CA381701580 | DHCR7 | c.1190C>A (p.Ser397Ter) c.1016C>A (p.Ser339Ter) c.1241C>A (p.Ser414Ter) c.1226C>A (p.Ser409Ter) c.1198C>A (p.Arg400=) n.1230C>A c.605C>A (p.Ser202Ter) c.1094C>A (p.Ser365Ter) c.691C>A (p.Arg231=) c.440C>A (p.Ser147Ter) c.319+2199C>A c.1324C>A (p.Arg442=) | gnomAD v4 |
| 11 | g.71435614A>C | CA381701581 | DHCR7 | c.1189T>G (p.Ser397Ala) c.1015T>G (p.Ser339Ala) c.1240T>G (p.Ser414Ala) c.1225T>G (p.Ser409Ala) c.1197T>G (p.Cys399Trp) n.1229T>G c.604T>G (p.Ser202Ala) c.1093T>G (p.Ser365Ala) c.690T>G (p.Cys230Trp) c.439T>G (p.Ser147Ala) c.319+2198T>G c.1323T>G (p.Cys441Trp) | |
| 11 | g.71435614A>G | CA381701582 | DHCR7 | c.1189T>C (p.Ser397Pro) c.1015T>C (p.Ser339Pro) c.1240T>C (p.Ser414Pro) c.1225T>C (p.Ser409Pro) c.1197T>C (p.Cys399=) n.1229T>C c.604T>C (p.Ser202Pro) c.1093T>C (p.Ser365Pro) c.690T>C (p.Cys230=) c.439T>C (p.Ser147Pro) c.319+2198T>C c.1323T>C (p.Cys441=) | |
| 11 | g.71435614A>T | CA381701583 | DHCR7 | c.1189T>A (p.Ser397Thr) c.1015T>A (p.Ser339Thr) c.1240T>A (p.Ser414Thr) c.1225T>A (p.Ser409Thr) c.1197T>A (p.Cys399Ter) n.1229T>A c.604T>A (p.Ser202Thr) c.1093T>A (p.Ser365Thr) c.690T>A (p.Cys230Ter) c.439T>A (p.Ser147Thr) c.319+2198T>A c.1323T>A (p.Cys441Ter) | |
| 11 | g.71435615C>A | CA381701584 | DHCR7 | c.1188G>T (p.Val396=) c.1014G>T (p.Val338=) c.1239G>T (p.Val413=) c.1224G>T (p.Val408=) c.1196G>T (p.Cys399Phe) n.1228G>T c.603G>T (p.Val201=) c.1092G>T (p.Val364=) c.689G>T (p.Cys230Phe) c.438G>T (p.Val146=) c.319+2197G>T c.1322G>T (p.Cys441Phe) | gnomAD v4 |
| 11 | g.71435615C= | CA1981486916 | DHCR7 | c.1188G= (p.Val396=) c.1014G= (p.Val338=) c.1239G= (p.Val413=) c.1224G= (p.Val408=) c.1196G= (p.Cys399=) n.1228G= c.603G= (p.Val201=) c.1092G= (p.Val364=) c.689G= (p.Cys230=) c.438G= (p.Val146=) c.319+2197G= c.1322G= (p.Cys441=) | |
| 11 | g.71435615C>G | CA381701585 | DHCR7 | c.1188G>C (p.Val396=) c.1014G>C (p.Val338=) c.1239G>C (p.Val413=) c.1224G>C (p.Val408=) c.1196G>C (p.Cys399Ser) n.1228G>C c.603G>C (p.Val201=) c.1092G>C (p.Val364=) c.689G>C (p.Cys230Ser) c.438G>C (p.Val146=) c.319+2197G>C c.1322G>C (p.Cys441Ser) | |
| 11 | g.71435615C>T | CA381701586 | DHCR7 | c.1188G>A (p.Val396=) c.1014G>A (p.Val338=) c.1239G>A (p.Val413=) c.1224G>A (p.Val408=) c.1196G>A (p.Cys399Tyr) n.1228G>A c.603G>A (p.Val201=) c.1092G>A (p.Val364=) c.689G>A (p.Cys230Tyr) c.438G>A (p.Val146=) c.319+2197G>A c.1322G>A (p.Cys441Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435617_71435619dup | CA2614857185 | DHCR7 | c.1186_1188dup (p.Val396_Ser397insVal) c.1012_1014dup (p.Val338_Ser339insVal) c.1237_1239dup (p.Val413_Ser414insVal) c.1222_1224dup (p.Val408_Ser409insVal) c.1194_1196dup (p.Trp398_Cys399insTrp) n.1226_1228dup c.601_603dup (p.Val201_Ser202insVal) c.1090_1092dup (p.Val364_Ser365insVal) c.687_689dup (p.Trp229_Cys230insTrp) c.436_438dup (p.Val146_Ser147insVal) c.319+2195_319+2197dup c.1320_1322dup (p.Trp440_Cys441insTrp) | gnomAD v4 |
| 11 | g.71435616A= | CA1981486917 | DHCR7 | c.1187T= (p.Val396=) c.1013T= (p.Val338=) c.1238T= (p.Val413=) c.1223T= (p.Val408=) c.1195T= (p.Cys399=) n.1227T= c.602T= (p.Val201=) c.1091T= (p.Val364=) c.688T= (p.Cys230=) c.437T= (p.Val146=) c.319+2196T= c.1321T= (p.Cys441=) | |
| 11 | g.71435616A>C | CA381701590 | DHCR7 | c.1187T>G (p.Val396Gly) c.1013T>G (p.Val338Gly) c.1238T>G (p.Val413Gly) c.1223T>G (p.Val408Gly) c.1195T>G (p.Cys399Gly) n.1227T>G c.602T>G (p.Val201Gly) c.1091T>G (p.Val364Gly) c.688T>G (p.Cys230Gly) c.437T>G (p.Val146Gly) c.319+2196T>G c.1321T>G (p.Cys441Gly) | |
| 11 | g.71435616A>G | CA381701588 | DHCR7 | c.1187T>C (p.Val396Ala) c.1013T>C (p.Val338Ala) c.1238T>C (p.Val413Ala) c.1223T>C (p.Val408Ala) c.1195T>C (p.Cys399Arg) n.1227T>C c.602T>C (p.Val201Ala) c.1091T>C (p.Val364Ala) c.688T>C (p.Cys230Arg) c.437T>C (p.Val146Ala) c.319+2196T>C c.1321T>C (p.Cys441Arg) | |
| 11 | g.71435616A>T | CA6162292 | DHCR7 | c.1187T>A (p.Val396Glu) c.1013T>A (p.Val338Glu) c.1238T>A (p.Val413Glu) c.1223T>A (p.Val408Glu) c.1195T>A (p.Cys399Ser) n.1227T>A c.602T>A (p.Val201Glu) c.1091T>A (p.Val364Glu) c.688T>A (p.Cys230Ser) c.437T>A (p.Val146Glu) c.319+2196T>A c.1321T>A (p.Cys441Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435617C>A | CA381701593 | DHCR7 | c.1186G>T (p.Val396Leu) c.1012G>T (p.Val338Leu) c.1237G>T (p.Val413Leu) c.1222G>T (p.Val408Leu) c.1194G>T (p.Trp398Cys) n.1226G>T c.601G>T (p.Val201Leu) c.1090G>T (p.Val364Leu) c.687G>T (p.Trp229Cys) c.436G>T (p.Val146Leu) c.319+2195G>T c.1320G>T (p.Trp440Cys) |