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 |
|---|---|---|---|---|---|
| 2 | g.127428474_127428477dup | CA2586969910 | PROC | c.914_917dup (p.Gln307GlyfsTer?) c.238_241dup c.1016_1019dup (p.Gln341GlyfsTer?) c.1097_1100dup (p.Gln368GlyfsTer?) c.1079_1082dup (p.Gln362GlyfsTer?) c.977_980dup (p.Gln328GlyfsTer?) n.1332-212_1332-209dup c.1157_1160dup (p.Gln388GlyfsTer?) c.1259_1262dup (p.Gln422GlyfsTer?) c.1199_1202dup (p.Gln402GlyfsTer?) n.3607-212_3607-209dup n.4043-212_4043-209dup c.1082_1085dup (p.Gln363GlyfsTer?) c.1100_1103dup (p.Gln369GlyfsTer?) c.857_860dup (p.Gln288GlyfsTer?) c.890_893dup (p.Gln299GlyfsTer?) c.908_911dup (p.Gln305GlyfsTer?) | |
| 2 | g.127428474_127428476dup | CA2586969911 | PROC | c.914_916dup (p.Leu305_Ala306insVal) c.238_240dup c.1016_1018dup (p.Leu339_Ala340insVal) c.1097_1099dup (p.Leu366_Ala367insVal) c.1079_1081dup (p.Leu360_Ala361insVal) c.977_979dup (p.Leu326_Ala327insVal) n.1332-212_1332-210dup c.1157_1159dup (p.Leu386_Ala387insVal) c.1259_1261dup (p.Leu420_Ala421insVal) c.1199_1201dup (p.Leu400_Ala401insVal) n.3607-212_3607-210dup n.4043-212_4043-210dup c.1082_1084dup (p.Leu361_Ala362insVal) c.1100_1102dup (p.Leu367_Ala368insVal) c.857_859dup (p.Leu286_Ala287insVal) c.890_892dup (p.Leu297_Ala298insVal) c.908_910dup (p.Leu303_Ala304insVal) | |
| 2 | g.127428475G>A | CA428618920 | PROC | c.915G>A (p.Leu305=) c.239G>A c.1017G>A (p.Leu339=) c.1098G>A (p.Leu366=) c.1080G>A (p.Leu360=) c.978G>A (p.Leu326=) n.1332-211C>T c.1158G>A (p.Leu386=) c.1260G>A (p.Leu420=) c.1200G>A (p.Leu400=) n.3607-211C>T n.4043-211C>T c.1083G>A (p.Leu361=) c.1101G>A (p.Leu367=) c.858G>A (p.Leu286=) c.891G>A (p.Leu297=) c.909G>A (p.Leu303=) | gnomAD v4 |
| 2 | g.127428475G>C | CA428618921 | PROC | c.915G>C (p.Leu305=) c.239G>C c.1017G>C (p.Leu339=) c.1098G>C (p.Leu366=) c.1080G>C (p.Leu360=) c.978G>C (p.Leu326=) n.1332-211C>G c.1158G>C (p.Leu386=) c.1260G>C (p.Leu420=) c.1200G>C (p.Leu400=) n.3607-211C>G n.4043-211C>G c.1083G>C (p.Leu361=) c.1101G>C (p.Leu367=) c.858G>C (p.Leu286=) c.891G>C (p.Leu297=) c.909G>C (p.Leu303=) | |
| 2 | g.127428475G>T | CA428618922 | PROC | c.915G>T (p.Leu305=) c.239G>T c.1017G>T (p.Leu339=) c.1098G>T (p.Leu366=) c.1080G>T (p.Leu360=) c.978G>T (p.Leu326=) n.1332-211C>A c.1158G>T (p.Leu386=) c.1260G>T (p.Leu420=) c.1200G>T (p.Leu400=) n.3607-211C>A n.4043-211C>A c.1083G>T (p.Leu361=) c.1101G>T (p.Leu367=) c.858G>T (p.Leu286=) c.891G>T (p.Leu297=) c.909G>T (p.Leu303=) | |
| 2 | g.127428476G>A | CA348404819 | PROC | c.916G>A (p.Ala306Thr) c.240G>A c.1018G>A (p.Ala340Thr) c.1099G>A (p.Ala367Thr) c.1081G>A (p.Ala361Thr) c.979G>A (p.Ala327Thr) n.1332-212C>T c.1159G>A (p.Ala387Thr) c.1261G>A (p.Ala421Thr) c.1201G>A (p.Ala401Thr) n.3607-212C>T n.4043-212C>T c.1084G>A (p.Ala362Thr) c.1102G>A (p.Ala368Thr) c.859G>A (p.Ala287Thr) c.892G>A (p.Ala298Thr) c.910G>A (p.Ala304Thr) | |
| 2 | g.127428476G>C | CA348404822 | PROC | c.916G>C (p.Ala306Pro) c.240G>C c.1018G>C (p.Ala340Pro) c.1099G>C (p.Ala367Pro) c.1081G>C (p.Ala361Pro) c.979G>C (p.Ala327Pro) n.1332-212C>G c.1159G>C (p.Ala387Pro) c.1261G>C (p.Ala421Pro) c.1201G>C (p.Ala401Pro) n.3607-212C>G n.4043-212C>G c.1084G>C (p.Ala362Pro) c.1102G>C (p.Ala368Pro) c.859G>C (p.Ala287Pro) c.892G>C (p.Ala298Pro) c.910G>C (p.Ala304Pro) | |
| 2 | g.127428476G= | CA1286884493 | PROC | c.916G= (p.Ala306=) c.240G= c.1018G= (p.Ala340=) c.1099G= (p.Ala367=) c.1081G= (p.Ala361=) c.979G= (p.Ala327=) n.1332-212C= c.1159G= (p.Ala387=) c.1261G= (p.Ala421=) c.1201G= (p.Ala401=) n.3607-212C= n.4043-212C= c.1084G= (p.Ala362=) c.1102G= (p.Ala368=) c.859G= (p.Ala287=) c.892G= (p.Ala298=) c.910G= (p.Ala304=) | |
| 2 | g.127428476G>T | CA348404824 | PROC | c.916G>T (p.Ala306Ser) c.240G>T c.1018G>T (p.Ala340Ser) c.1099G>T (p.Ala367Ser) c.1081G>T (p.Ala361Ser) c.979G>T (p.Ala327Ser) n.1332-212C>A c.1159G>T (p.Ala387Ser) c.1261G>T (p.Ala421Ser) c.1201G>T (p.Ala401Ser) n.3607-212C>A n.4043-212C>A c.1084G>T (p.Ala362Ser) c.1102G>T (p.Ala368Ser) c.859G>T (p.Ala287Ser) c.892G>T (p.Ala298Ser) c.910G>T (p.Ala304Ser) | ClinVar dbSNP |
| 2 | g.127428477C>A | CA348404827 | PROC | c.917C>A (p.Ala306Asp) c.241C>A c.1019C>A (p.Ala340Asp) c.1100C>A (p.Ala367Asp) c.1082C>A (p.Ala361Asp) c.980C>A (p.Ala327Asp) n.1332-213G>T c.1160C>A (p.Ala387Asp) c.1262C>A (p.Ala421Asp) c.1202C>A (p.Ala401Asp) n.3607-213G>T n.4043-213G>T c.1085C>A (p.Ala362Asp) c.1103C>A (p.Ala368Asp) c.860C>A (p.Ala287Asp) c.893C>A (p.Ala298Asp) c.911C>A (p.Ala304Asp) | |
| 2 | g.127428477C>G | CA348404829 | PROC | c.917C>G (p.Ala306Gly) c.241C>G c.1019C>G (p.Ala340Gly) c.1100C>G (p.Ala367Gly) c.1082C>G (p.Ala361Gly) c.980C>G (p.Ala327Gly) n.1332-213G>C c.1160C>G (p.Ala387Gly) c.1262C>G (p.Ala421Gly) c.1202C>G (p.Ala401Gly) n.3607-213G>C n.4043-213G>C c.1085C>G (p.Ala362Gly) c.1103C>G (p.Ala368Gly) c.860C>G (p.Ala287Gly) c.893C>G (p.Ala298Gly) c.911C>G (p.Ala304Gly) | |
| 2 | g.127428477C>T | CA348404832 | PROC | c.917C>T (p.Ala306Val) c.241C>T c.1019C>T (p.Ala340Val) c.1100C>T (p.Ala367Val) c.1082C>T (p.Ala361Val) c.980C>T (p.Ala327Val) n.1332-213G>A c.1160C>T (p.Ala387Val) c.1262C>T (p.Ala421Val) c.1202C>T (p.Ala401Val) n.3607-213G>A n.4043-213G>A c.1085C>T (p.Ala362Val) c.1103C>T (p.Ala368Val) c.860C>T (p.Ala287Val) c.893C>T (p.Ala298Val) c.911C>T (p.Ala304Val) | |
| 2 | g.127428478C>A | CA428618923 | PROC | c.918C>A (p.Ala306=) c.242C>A c.1020C>A (p.Ala340=) c.1101C>A (p.Ala367=) c.1083C>A (p.Ala361=) c.981C>A (p.Ala327=) n.1332-214G>T c.1161C>A (p.Ala387=) c.1263C>A (p.Ala421=) c.1203C>A (p.Ala401=) n.3607-214G>T n.4043-214G>T c.1086C>A (p.Ala362=) c.1104C>A (p.Ala368=) c.861C>A (p.Ala287=) c.894C>A (p.Ala298=) c.912C>A (p.Ala304=) | |
| 2 | g.127428478C>G | CA428618924 | PROC | c.918C>G (p.Ala306=) c.242C>G c.1020C>G (p.Ala340=) c.1101C>G (p.Ala367=) c.1083C>G (p.Ala361=) c.981C>G (p.Ala327=) n.1332-214G>C c.1161C>G (p.Ala387=) c.1263C>G (p.Ala421=) c.1203C>G (p.Ala401=) n.3607-214G>C n.4043-214G>C c.1086C>G (p.Ala362=) c.1104C>G (p.Ala368=) c.861C>G (p.Ala287=) c.894C>G (p.Ala298=) c.912C>G (p.Ala304=) | |
| 2 | g.127428478C>T | CA428618925 | PROC | c.918C>T (p.Ala306=) c.242C>T c.1020C>T (p.Ala340=) c.1101C>T (p.Ala367=) c.1083C>T (p.Ala361=) c.981C>T (p.Ala327=) n.1332-214G>A c.1161C>T (p.Ala387=) c.1263C>T (p.Ala421=) c.1203C>T (p.Ala401=) n.3607-214G>A n.4043-214G>A c.1086C>T (p.Ala362=) c.1104C>T (p.Ala368=) c.861C>T (p.Ala287=) c.894C>T (p.Ala298=) c.912C>T (p.Ala304=) | dbSNP |
| 2 | g.127428479C>A | CA348404835 | PROC | c.919C>A (p.Gln307Lys) c.243C>A c.1021C>A (p.Gln341Lys) c.1102C>A (p.Gln368Lys) c.1084C>A (p.Gln362Lys) c.982C>A (p.Gln328Lys) n.1332-215G>T c.1162C>A (p.Gln388Lys) c.1264C>A (p.Gln422Lys) c.1204C>A (p.Gln402Lys) n.3607-215G>T n.4043-215G>T c.1087C>A (p.Gln363Lys) c.1105C>A (p.Gln369Lys) c.862C>A (p.Gln288Lys) c.895C>A (p.Gln299Lys) c.913C>A (p.Gln305Lys) | |
| 2 | g.127428479C>G | CA348404838 | PROC | c.919C>G (p.Gln307Glu) c.243C>G c.1021C>G (p.Gln341Glu) c.1102C>G (p.Gln368Glu) c.1084C>G (p.Gln362Glu) c.982C>G (p.Gln328Glu) n.1332-215G>C c.1162C>G (p.Gln388Glu) c.1264C>G (p.Gln422Glu) c.1204C>G (p.Gln402Glu) n.3607-215G>C n.4043-215G>C c.1087C>G (p.Gln363Glu) c.1105C>G (p.Gln369Glu) c.862C>G (p.Gln288Glu) c.895C>G (p.Gln299Glu) c.913C>G (p.Gln305Glu) | |
| 2 | g.127428479C>T | CA348404841 | PROC | c.919C>T (p.Gln307Ter) c.243C>T c.1021C>T (p.Gln341Ter) c.1102C>T (p.Gln368Ter) c.1084C>T (p.Gln362Ter) c.982C>T (p.Gln328Ter) n.1332-215G>A c.1162C>T (p.Gln388Ter) c.1264C>T (p.Gln422Ter) c.1204C>T (p.Gln402Ter) n.3607-215G>A n.4043-215G>A c.1087C>T (p.Gln363Ter) c.1105C>T (p.Gln369Ter) c.862C>T (p.Gln288Ter) c.895C>T (p.Gln299Ter) c.913C>T (p.Gln305Ter) | |
| 2 | g.127428480del | CA2660997777 | PROC | c.920del (p.Gln307ArgfsTer9) c.244del c.1022del (p.Gln341ArgfsTer9) c.1103del (p.Gln368ArgfsTer9) c.1085del (p.Gln362ArgfsTer9) c.983del (p.Gln328ArgfsTer9) n.1332-216del c.1163del (p.Gln388ArgfsTer9) c.1265del (p.Gln422ArgfsTer9) c.1205del (p.Gln402ArgfsTer9) n.3607-216del n.4043-216del c.1088del (p.Gln363ArgfsTer9) c.1106del (p.Gln369ArgfsTer9) c.863del (p.Gln288ArgfsTer9) c.896del (p.Gln299ArgfsTer9) c.914del (p.Gln305ArgfsTer9) | gnomAD v4 |
| 2 | g.127428480A>C | CA348404845 | PROC | c.920A>C (p.Gln307Pro) c.244A>C c.1022A>C (p.Gln341Pro) c.1103A>C (p.Gln368Pro) c.1085A>C (p.Gln362Pro) c.983A>C (p.Gln328Pro) n.1332-216T>G c.1163A>C (p.Gln388Pro) c.1265A>C (p.Gln422Pro) c.1205A>C (p.Gln402Pro) n.3607-216T>G n.4043-216T>G c.1088A>C (p.Gln363Pro) c.1106A>C (p.Gln369Pro) c.863A>C (p.Gln288Pro) c.896A>C (p.Gln299Pro) c.914A>C (p.Gln305Pro) | |
| 2 | g.127428480A>G | CA348404847 | PROC | c.920A>G (p.Gln307Arg) c.244A>G c.1022A>G (p.Gln341Arg) c.1103A>G (p.Gln368Arg) c.1085A>G (p.Gln362Arg) c.983A>G (p.Gln328Arg) n.1332-216T>C c.1163A>G (p.Gln388Arg) c.1265A>G (p.Gln422Arg) c.1205A>G (p.Gln402Arg) n.3607-216T>C n.4043-216T>C c.1088A>G (p.Gln363Arg) c.1106A>G (p.Gln369Arg) c.863A>G (p.Gln288Arg) c.896A>G (p.Gln299Arg) c.914A>G (p.Gln305Arg) | gnomAD v4 |
| 2 | g.127428480A>T | CA348404851 | PROC | c.920A>T (p.Gln307Leu) c.244A>T c.1022A>T (p.Gln341Leu) c.1103A>T (p.Gln368Leu) c.1085A>T (p.Gln362Leu) c.983A>T (p.Gln328Leu) n.1332-216T>A c.1163A>T (p.Gln388Leu) c.1265A>T (p.Gln422Leu) c.1205A>T (p.Gln402Leu) n.3607-216T>A n.4043-216T>A c.1088A>T (p.Gln363Leu) c.1106A>T (p.Gln369Leu) c.863A>T (p.Gln288Leu) c.896A>T (p.Gln299Leu) c.914A>T (p.Gln305Leu) | |
| 2 | g.127428481G>A | CA428618926 | PROC | c.921G>A (p.Gln307=) c.245G>A c.1023G>A (p.Gln341=) c.1104G>A (p.Gln368=) c.1086G>A (p.Gln362=) c.984G>A (p.Gln328=) n.1332-217C>T c.1164G>A (p.Gln388=) c.1266G>A (p.Gln422=) c.1206G>A (p.Gln402=) n.3607-217C>T n.4043-217C>T c.1089G>A (p.Gln363=) c.1107G>A (p.Gln369=) c.864G>A (p.Gln288=) c.897G>A (p.Gln299=) c.915G>A (p.Gln305=) | |
| 2 | g.127428481G>C | CA348404855 | PROC | c.921G>C (p.Gln307His) c.245G>C c.1023G>C (p.Gln341His) c.1104G>C (p.Gln368His) c.1086G>C (p.Gln362His) c.984G>C (p.Gln328His) n.1332-217C>G c.1164G>C (p.Gln388His) c.1266G>C (p.Gln422His) c.1206G>C (p.Gln402His) n.3607-217C>G n.4043-217C>G c.1089G>C (p.Gln363His) c.1107G>C (p.Gln369His) c.864G>C (p.Gln288His) c.897G>C (p.Gln299His) c.915G>C (p.Gln305His) | |
| 2 | g.127428481G>T | CA348404857 | PROC | c.921G>T (p.Gln307His) c.245G>T c.1023G>T (p.Gln341His) c.1104G>T (p.Gln368His) c.1086G>T (p.Gln362His) c.984G>T (p.Gln328His) n.1332-217C>A c.1164G>T (p.Gln388His) c.1266G>T (p.Gln422His) c.1206G>T (p.Gln402His) n.3607-217C>A n.4043-217C>A c.1089G>T (p.Gln363His) c.1107G>T (p.Gln369His) c.864G>T (p.Gln288His) c.897G>T (p.Gln299His) c.915G>T (p.Gln305His) | |
| 2 | g.127428482C>A | CA348404861 | PROC | c.922C>A (p.Pro308Thr) c.246C>A c.1024C>A (p.Pro342Thr) c.1105C>A (p.Pro369Thr) c.1087C>A (p.Pro363Thr) c.985C>A (p.Pro329Thr) n.1332-218G>T c.1165C>A (p.Pro389Thr) c.1267C>A (p.Pro423Thr) c.1207C>A (p.Pro403Thr) n.3607-218G>T n.4043-218G>T c.1090C>A (p.Pro364Thr) c.1108C>A (p.Pro370Thr) c.865C>A (p.Pro289Thr) c.898C>A (p.Pro300Thr) c.916C>A (p.Pro306Thr) | gnomAD v4 |
| 2 | g.127428482C= | CA1286884494 | PROC | c.922C= (p.Pro308=) c.246C= c.1024C= (p.Pro342=) c.1105C= (p.Pro369=) c.1087C= (p.Pro363=) c.985C= (p.Pro329=) n.1332-218G= c.1165C= (p.Pro389=) c.1267C= (p.Pro423=) c.1207C= (p.Pro403=) n.3607-218G= n.4043-218G= c.1090C= (p.Pro364=) c.1108C= (p.Pro370=) c.865C= (p.Pro289=) c.898C= (p.Pro300=) c.916C= (p.Pro306=) | |
| 2 | g.127428482C>G | CA348404866 | PROC | c.922C>G (p.Pro308Ala) c.246C>G c.1024C>G (p.Pro342Ala) c.1105C>G (p.Pro369Ala) c.1087C>G (p.Pro363Ala) c.985C>G (p.Pro329Ala) n.1332-218G>C c.1165C>G (p.Pro389Ala) c.1267C>G (p.Pro423Ala) c.1207C>G (p.Pro403Ala) n.3607-218G>C n.4043-218G>C c.1090C>G (p.Pro364Ala) c.1108C>G (p.Pro370Ala) c.865C>G (p.Pro289Ala) c.898C>G (p.Pro300Ala) c.916C>G (p.Pro306Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428482C>T | CA348404863 | PROC | c.922C>T (p.Pro308Ser) c.246C>T c.1024C>T (p.Pro342Ser) c.1105C>T (p.Pro369Ser) c.1087C>T (p.Pro363Ser) c.985C>T (p.Pro329Ser) n.1332-218G>A c.1165C>T (p.Pro389Ser) c.1267C>T (p.Pro423Ser) c.1207C>T (p.Pro403Ser) n.3607-218G>A n.4043-218G>A c.1090C>T (p.Pro364Ser) c.1108C>T (p.Pro370Ser) c.865C>T (p.Pro289Ser) c.898C>T (p.Pro300Ser) c.916C>T (p.Pro306Ser) | |
| 2 | g.127428483C>A | CA348404869 | PROC | c.923C>A (p.Pro308His) c.247C>A c.1025C>A (p.Pro342His) c.1106C>A (p.Pro369His) c.1088C>A (p.Pro363His) c.986C>A (p.Pro329His) n.1332-219G>T c.1166C>A (p.Pro389His) c.1268C>A (p.Pro423His) c.1208C>A (p.Pro403His) n.3607-219G>T n.4043-219G>T c.1091C>A (p.Pro364His) c.1109C>A (p.Pro370His) c.866C>A (p.Pro289His) c.899C>A (p.Pro300His) c.917C>A (p.Pro306His) | |
| 2 | g.127428483C>G | CA348404875 | PROC | c.923C>G (p.Pro308Arg) c.247C>G c.1025C>G (p.Pro342Arg) c.1106C>G (p.Pro369Arg) c.1088C>G (p.Pro363Arg) c.986C>G (p.Pro329Arg) n.1332-219G>C c.1166C>G (p.Pro389Arg) c.1268C>G (p.Pro423Arg) c.1208C>G (p.Pro403Arg) n.3607-219G>C n.4043-219G>C c.1091C>G (p.Pro364Arg) c.1109C>G (p.Pro370Arg) c.866C>G (p.Pro289Arg) c.899C>G (p.Pro300Arg) c.917C>G (p.Pro306Arg) | |
| 2 | g.127428483C>T | CA348404871 | PROC | c.923C>T (p.Pro308Leu) c.247C>T c.1025C>T (p.Pro342Leu) c.1106C>T (p.Pro369Leu) c.1088C>T (p.Pro363Leu) c.986C>T (p.Pro329Leu) n.1332-219G>A c.1166C>T (p.Pro389Leu) c.1268C>T (p.Pro423Leu) c.1208C>T (p.Pro403Leu) n.3607-219G>A n.4043-219G>A c.1091C>T (p.Pro364Leu) c.1109C>T (p.Pro370Leu) c.866C>T (p.Pro289Leu) c.899C>T (p.Pro300Leu) c.917C>T (p.Pro306Leu) | |
| 2 | g.127428484C>A | CA428871465 | PROC | c.924C>A (p.Pro308=) c.248C>A c.1026C>A (p.Pro342=) c.1107C>A (p.Pro369=) c.1089C>A (p.Pro363=) c.987C>A (p.Pro329=) n.1332-220G>T c.1167C>A (p.Pro389=) c.1269C>A (p.Pro423=) c.1209C>A (p.Pro403=) n.3607-220G>T n.4043-220G>T c.1092C>A (p.Pro364=) c.1110C>A (p.Pro370=) c.867C>A (p.Pro289=) c.900C>A (p.Pro300=) c.918C>A (p.Pro306=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428484C= | CA1286884495 | PROC | c.924C= (p.Pro308=) c.248C= c.1026C= (p.Pro342=) c.1107C= (p.Pro369=) c.1089C= (p.Pro363=) c.987C= (p.Pro329=) n.1332-220G= c.1167C= (p.Pro389=) c.1269C= (p.Pro423=) c.1209C= (p.Pro403=) n.3607-220G= n.4043-220G= c.1092C= (p.Pro364=) c.1110C= (p.Pro370=) c.867C= (p.Pro289=) c.900C= (p.Pro300=) c.918C= (p.Pro306=) | |
| 2 | g.127428484C>G | CA428871467 | PROC | c.924C>G (p.Pro308=) c.248C>G c.1026C>G (p.Pro342=) c.1107C>G (p.Pro369=) c.1089C>G (p.Pro363=) c.987C>G (p.Pro329=) n.1332-220G>C c.1167C>G (p.Pro389=) c.1269C>G (p.Pro423=) c.1209C>G (p.Pro403=) n.3607-220G>C n.4043-220G>C c.1092C>G (p.Pro364=) c.1110C>G (p.Pro370=) c.867C>G (p.Pro289=) c.900C>G (p.Pro300=) c.918C>G (p.Pro306=) | |
| 2 | g.127428484C>T | CA1859487 | PROC | c.924C>T (p.Pro308=) c.248C>T c.1026C>T (p.Pro342=) c.1107C>T (p.Pro369=) c.1089C>T (p.Pro363=) c.987C>T (p.Pro329=) n.1332-220G>A c.1167C>T (p.Pro389=) c.1269C>T (p.Pro423=) c.1209C>T (p.Pro403=) n.3607-220G>A n.4043-220G>A c.1092C>T (p.Pro364=) c.1110C>T (p.Pro370=) c.867C>T (p.Pro289=) c.900C>T (p.Pro300=) c.918C>T (p.Pro306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428485G>A | CA114396 | PROC | c.925G>A (p.Ala309Thr) c.249G>A c.1027G>A (p.Ala343Thr) c.1108G>A (p.Ala370Thr) c.1090G>A (p.Ala364Thr) c.988G>A (p.Ala330Thr) n.1332-221C>T c.1168G>A (p.Ala390Thr) c.1270G>A (p.Ala424Thr) c.1210G>A (p.Ala404Thr) n.3607-221C>T n.4043-221C>T c.1093G>A (p.Ala365Thr) c.1111G>A (p.Ala371Thr) c.868G>A (p.Ala290Thr) c.901G>A (p.Ala301Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428485G>C | CA348404879 | PROC | c.925G>C (p.Ala309Pro) c.249G>C c.1027G>C (p.Ala343Pro) c.1108G>C (p.Ala370Pro) c.1090G>C (p.Ala364Pro) c.988G>C (p.Ala330Pro) n.1332-221C>G c.1168G>C (p.Ala390Pro) c.1270G>C (p.Ala424Pro) c.1210G>C (p.Ala404Pro) n.3607-221C>G n.4043-221C>G c.1093G>C (p.Ala365Pro) c.1111G>C (p.Ala371Pro) c.868G>C (p.Ala290Pro) c.901G>C (p.Ala301Pro) c.919G>C (p.Ala307Pro) | gnomAD v4 |
| 2 | g.127428485G= | CA1286884496 | PROC | c.925G= (p.Ala309=) c.249G= c.1027G= (p.Ala343=) c.1108G= (p.Ala370=) c.1090G= (p.Ala364=) c.988G= (p.Ala330=) n.1332-221C= c.1168G= (p.Ala390=) c.1270G= (p.Ala424=) c.1210G= (p.Ala404=) n.3607-221C= n.4043-221C= c.1093G= (p.Ala365=) c.1111G= (p.Ala371=) c.868G= (p.Ala290=) c.901G= (p.Ala301=) c.919G= (p.Ala307=) | |
| 2 | g.127428485G>T | CA348404882 | PROC | c.925G>T (p.Ala309Ser) c.249G>T c.1027G>T (p.Ala343Ser) c.1108G>T (p.Ala370Ser) c.1090G>T (p.Ala364Ser) c.988G>T (p.Ala330Ser) n.1332-221C>A c.1168G>T (p.Ala390Ser) c.1270G>T (p.Ala424Ser) c.1210G>T (p.Ala404Ser) n.3607-221C>A n.4043-221C>A c.1093G>T (p.Ala365Ser) c.1111G>T (p.Ala371Ser) c.868G>T (p.Ala290Ser) c.901G>T (p.Ala301Ser) c.919G>T (p.Ala307Ser) | |
| 2 | g.127428486C>A | CA348404888 | PROC | c.926C>A (p.Ala309Asp) c.250C>A c.1028C>A (p.Ala343Asp) c.1109C>A (p.Ala370Asp) c.1091C>A (p.Ala364Asp) c.989C>A (p.Ala330Asp) n.1332-222G>T c.1169C>A (p.Ala390Asp) c.1271C>A (p.Ala424Asp) c.1211C>A (p.Ala404Asp) n.3607-222G>T n.4043-222G>T c.1094C>A (p.Ala365Asp) c.1112C>A (p.Ala371Asp) c.869C>A (p.Ala290Asp) c.902C>A (p.Ala301Asp) c.920C>A (p.Ala307Asp) | |
| 2 | g.127428486C>G | CA348404890 | PROC | c.926C>G (p.Ala309Gly) c.250C>G c.1028C>G (p.Ala343Gly) c.1109C>G (p.Ala370Gly) c.1091C>G (p.Ala364Gly) c.989C>G (p.Ala330Gly) n.1332-222G>C c.1169C>G (p.Ala390Gly) c.1271C>G (p.Ala424Gly) c.1211C>G (p.Ala404Gly) n.3607-222G>C n.4043-222G>C c.1094C>G (p.Ala365Gly) c.1112C>G (p.Ala371Gly) c.869C>G (p.Ala290Gly) c.902C>G (p.Ala301Gly) c.920C>G (p.Ala307Gly) | |
| 2 | g.127428486C>T | CA348404891 | PROC | c.926C>T (p.Ala309Val) c.250C>T c.1028C>T (p.Ala343Val) c.1109C>T (p.Ala370Val) c.1091C>T (p.Ala364Val) c.989C>T (p.Ala330Val) n.1332-222G>A c.1169C>T (p.Ala390Val) c.1271C>T (p.Ala424Val) c.1211C>T (p.Ala404Val) n.3607-222G>A n.4043-222G>A c.1094C>T (p.Ala365Val) c.1112C>T (p.Ala371Val) c.869C>T (p.Ala290Val) c.902C>T (p.Ala301Val) c.920C>T (p.Ala307Val) | |
| 2 | g.127428487C>A | CA428871483 | PROC | c.927C>A (p.Ala309=) c.251C>A c.1029C>A (p.Ala343=) c.1110C>A (p.Ala370=) c.1092C>A (p.Ala364=) c.990C>A (p.Ala330=) n.1332-223G>T c.1170C>A (p.Ala390=) c.1272C>A (p.Ala424=) c.1212C>A (p.Ala404=) n.3607-223G>T n.4043-223G>T c.1095C>A (p.Ala365=) c.1113C>A (p.Ala371=) c.870C>A (p.Ala290=) c.903C>A (p.Ala301=) c.921C>A (p.Ala307=) | gnomAD v4 |
| 2 | g.127428487C= | CA1286884497 | PROC | c.927C= (p.Ala309=) c.251C= c.1029C= (p.Ala343=) c.1110C= (p.Ala370=) c.1092C= (p.Ala364=) c.990C= (p.Ala330=) n.1332-223G= c.1170C= (p.Ala390=) c.1272C= (p.Ala424=) c.1212C= (p.Ala404=) n.3607-223G= n.4043-223G= c.1095C= (p.Ala365=) c.1113C= (p.Ala371=) c.870C= (p.Ala290=) c.903C= (p.Ala301=) c.921C= (p.Ala307=) | |
| 2 | g.127428487C>G | CA428871485 | PROC | c.927C>G (p.Ala309=) c.251C>G c.1029C>G (p.Ala343=) c.1110C>G (p.Ala370=) c.1092C>G (p.Ala364=) c.990C>G (p.Ala330=) n.1332-223G>C c.1170C>G (p.Ala390=) c.1272C>G (p.Ala424=) c.1212C>G (p.Ala404=) n.3607-223G>C n.4043-223G>C c.1095C>G (p.Ala365=) c.1113C>G (p.Ala371=) c.870C>G (p.Ala290=) c.903C>G (p.Ala301=) c.921C>G (p.Ala307=) | |
| 2 | g.127428487C>T | CA1859488 | PROC | c.927C>T (p.Ala309=) c.251C>T c.1029C>T (p.Ala343=) c.1110C>T (p.Ala370=) c.1092C>T (p.Ala364=) c.990C>T (p.Ala330=) n.1332-223G>A c.1170C>T (p.Ala390=) c.1272C>T (p.Ala424=) c.1212C>T (p.Ala404=) n.3607-223G>A n.4043-223G>A c.1095C>T (p.Ala365=) c.1113C>T (p.Ala371=) c.870C>T (p.Ala290=) c.903C>T (p.Ala301=) c.921C>T (p.Ala307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428488A>C | CA348404892 | PROC | c.928A>C (p.Thr310Pro) c.252A>C c.1030A>C (p.Thr344Pro) c.1111A>C (p.Thr371Pro) c.1093A>C (p.Thr365Pro) c.991A>C (p.Thr331Pro) n.1332-224T>G c.1171A>C (p.Thr391Pro) c.1273A>C (p.Thr425Pro) c.1213A>C (p.Thr405Pro) n.3607-224T>G n.4043-224T>G c.1096A>C (p.Thr366Pro) c.1114A>C (p.Thr372Pro) c.871A>C (p.Thr291Pro) c.904A>C (p.Thr302Pro) c.922A>C (p.Thr308Pro) | |
| 2 | g.127428488A>G | CA348404895 | PROC | c.928A>G (p.Thr310Ala) c.252A>G c.1030A>G (p.Thr344Ala) c.1111A>G (p.Thr371Ala) c.1093A>G (p.Thr365Ala) c.991A>G (p.Thr331Ala) n.1332-224T>C c.1171A>G (p.Thr391Ala) c.1273A>G (p.Thr425Ala) c.1213A>G (p.Thr405Ala) n.3607-224T>C n.4043-224T>C c.1096A>G (p.Thr366Ala) c.1114A>G (p.Thr372Ala) c.871A>G (p.Thr291Ala) c.904A>G (p.Thr302Ala) c.922A>G (p.Thr308Ala) | |
| 2 | g.127428488A>T | CA348404906 | PROC | c.928A>T (p.Thr310Ser) c.252A>T c.1030A>T (p.Thr344Ser) c.1111A>T (p.Thr371Ser) c.1093A>T (p.Thr365Ser) c.991A>T (p.Thr331Ser) n.1332-224T>A c.1171A>T (p.Thr391Ser) c.1273A>T (p.Thr425Ser) c.1213A>T (p.Thr405Ser) n.3607-224T>A n.4043-224T>A c.1096A>T (p.Thr366Ser) c.1114A>T (p.Thr372Ser) c.871A>T (p.Thr291Ser) c.904A>T (p.Thr302Ser) c.922A>T (p.Thr308Ser) |