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 |
|---|---|---|---|---|---|
| 1 | g.156175179C>A | CA421258286 | SEMA4A | c.1528C>A (p.Arg510=) c.1132C>A (p.Arg378=) c.1414C>A (p.Arg472=) n.837C>A n.1425C>A c.1231C>A (p.Arg411=) c.1021C>A (p.Arg341=) | gnomAD v4 |
| 1 | g.156175179C= | CA1200489047 | SEMA4A | c.1528C= (p.Arg510=) c.1132C= (p.Arg378=) c.1414C= (p.Arg472=) n.837C= n.1425C= c.1231C= (p.Arg411=) c.1021C= (p.Arg341=) | |
| 1 | g.156175179C>G | CA342809458 | SEMA4A | c.1528C>G (p.Arg510Gly) c.1132C>G (p.Arg378Gly) c.1414C>G (p.Arg472Gly) n.837C>G n.1425C>G c.1231C>G (p.Arg411Gly) c.1021C>G (p.Arg341Gly) | |
| 1 | g.156175179C>T | CA16603466 | SEMA4A | c.1528C>T (p.Arg510Trp) c.1132C>T (p.Arg378Trp) c.1414C>T (p.Arg472Trp) n.837C>T n.1425C>T c.1231C>T (p.Arg411Trp) c.1021C>T (p.Arg341Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.156175180G>A | CA201071 | SEMA4A | c.1529G>A (p.Arg510Gln) c.1133G>A (p.Arg378Gln) c.1415G>A (p.Arg472Gln) n.838G>A n.1426G>A c.1232G>A (p.Arg411Gln) c.1022G>A (p.Arg341Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156175180G>C | CA31002990 | SEMA4A | c.1529G>C (p.Arg510Pro) c.1133G>C (p.Arg378Pro) c.1415G>C (p.Arg472Pro) n.838G>C n.1426G>C c.1232G>C (p.Arg411Pro) c.1022G>C (p.Arg341Pro) | dbSNP |
| 1 | g.156175180G= | CA1139911838 | SEMA4A | c.1529G= (p.Arg510=) c.1133G= (p.Arg378=) c.1415G= (p.Arg472=) n.838G= n.1426G= c.1232G= (p.Arg411=) c.1022G= (p.Arg341=) | |
| 1 | g.156175180G>T | CA342809465 | SEMA4A | c.1529G>T (p.Arg510Leu) c.1133G>T (p.Arg378Leu) c.1415G>T (p.Arg472Leu) n.838G>T n.1426G>T c.1232G>T (p.Arg411Leu) c.1022G>T (p.Arg341Leu) | |
| 1 | g.156175187_156175204dup | CA526670979 | SEMA4A | c.1536_1553dup (p.Pro518_Glu519insHisCysAlaTrpAspPro) c.1140_1157dup (p.Pro386_Glu387insHisCysAlaTrpAspPro) c.1422_1439dup (p.Pro480_Glu481insHisCysAlaTrpAspPro) n.845_862dup n.1433_1450dup c.1239_1256dup (p.Pro419_Glu420insHisCysAlaTrpAspPro) c.1029_1046dup (p.Pro349_Glu350insHisCysAlaTrpAspPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156175181G>A | CA421258287 | SEMA4A | c.1530G>A (p.Arg510=) c.1134G>A (p.Arg378=) c.1416G>A (p.Arg472=) n.839G>A n.1427G>A c.1233G>A (p.Arg411=) c.1023G>A (p.Arg341=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156175181G>C | CA421258289 | SEMA4A | c.1530G>C (p.Arg510=) c.1134G>C (p.Arg378=) c.1416G>C (p.Arg472=) n.839G>C n.1427G>C c.1233G>C (p.Arg411=) c.1023G>C (p.Arg341=) | |
| 1 | g.156175181G= | CA1200489048 | SEMA4A | c.1530G= (p.Arg510=) c.1134G= (p.Arg378=) c.1416G= (p.Arg472=) n.839G= n.1427G= c.1233G= (p.Arg411=) c.1023G= (p.Arg341=) | |
| 1 | g.156175181G>T | CA421258291 | SEMA4A | c.1530G>T (p.Arg510=) c.1134G>T (p.Arg378=) c.1416G>T (p.Arg472=) n.839G>T n.1427G>T c.1233G>T (p.Arg411=) c.1023G>T (p.Arg341=) | |
| 1 | g.156175182G>A | CA1155390 | SEMA4A | c.1531G>A (p.Asp511Asn) c.1135G>A (p.Asp379Asn) c.1417G>A (p.Asp473Asn) n.840G>A n.1428G>A c.1234G>A (p.Asp412Asn) c.1024G>A (p.Asp342Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156175182G>C | CA342809471 | SEMA4A | c.1531G>C (p.Asp511His) c.1135G>C (p.Asp379His) c.1417G>C (p.Asp473His) n.840G>C n.1428G>C c.1234G>C (p.Asp412His) c.1024G>C (p.Asp342His) | |
| 1 | g.156175182G= | CA1200489049 | SEMA4A | c.1531G= (p.Asp511=) c.1135G= (p.Asp379=) c.1417G= (p.Asp473=) n.840G= n.1428G= c.1234G= (p.Asp412=) c.1024G= (p.Asp342=) | |
| 1 | g.156175182G>T | CA342809473 | SEMA4A | c.1531G>T (p.Asp511Tyr) c.1135G>T (p.Asp379Tyr) c.1417G>T (p.Asp473Tyr) n.840G>T n.1428G>T c.1234G>T (p.Asp412Tyr) c.1024G>T (p.Asp342Tyr) | |
| 1 | g.156175183A>C | CA342809475 | SEMA4A | c.1532A>C (p.Asp511Ala) c.1136A>C (p.Asp379Ala) c.1418A>C (p.Asp473Ala) n.841A>C n.1429A>C c.1235A>C (p.Asp412Ala) c.1025A>C (p.Asp342Ala) | |
| 1 | g.156175183A>G | CA342809477 | SEMA4A | c.1532A>G (p.Asp511Gly) c.1136A>G (p.Asp379Gly) c.1418A>G (p.Asp473Gly) n.841A>G n.1429A>G c.1235A>G (p.Asp412Gly) c.1025A>G (p.Asp342Gly) | |
| 1 | g.156175183A>T | CA342809479 | SEMA4A | c.1532A>T (p.Asp511Val) c.1136A>T (p.Asp379Val) c.1418A>T (p.Asp473Val) n.841A>T n.1429A>T c.1235A>T (p.Asp412Val) c.1025A>T (p.Asp342Val) | |
| 1 | g.156175184C>A | CA342809482 | SEMA4A | c.1533C>A (p.Asp511Glu) c.1137C>A (p.Asp379Glu) c.1419C>A (p.Asp473Glu) n.842C>A n.1430C>A c.1236C>A (p.Asp412Glu) c.1026C>A (p.Asp342Glu) | gnomAD v4 |
| 1 | g.156175184C= | CA1200489050 | SEMA4A | c.1533C= (p.Asp511=) c.1137C= (p.Asp379=) c.1419C= (p.Asp473=) n.842C= n.1430C= c.1236C= (p.Asp412=) c.1026C= (p.Asp342=) | |
| 1 | g.156175184C>G | CA342809484 | SEMA4A | c.1533C>G (p.Asp511Glu) c.1137C>G (p.Asp379Glu) c.1419C>G (p.Asp473Glu) n.842C>G n.1430C>G c.1236C>G (p.Asp412Glu) c.1026C>G (p.Asp342Glu) | |
| 1 | g.156175184C>T | CA421258294 | SEMA4A | c.1533C>T (p.Asp511=) c.1137C>T (p.Asp379=) c.1419C>T (p.Asp473=) n.842C>T n.1430C>T c.1236C>T (p.Asp412=) c.1026C>T (p.Asp342=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156175185C>A | CA342809489 | SEMA4A | c.1534C>A (p.Pro512Thr) c.1138C>A (p.Pro380Thr) c.1420C>A (p.Pro474Thr) n.843C>A n.1431C>A c.1237C>A (p.Pro413Thr) c.1027C>A (p.Pro343Thr) | |
| 1 | g.156175185C= | CA1200489051 | SEMA4A | c.1534C= (p.Pro512=) c.1138C= (p.Pro380=) c.1420C= (p.Pro474=) n.843C= n.1431C= c.1237C= (p.Pro413=) c.1027C= (p.Pro343=) | |
| 1 | g.156175185C>G | CA342809491 | SEMA4A | c.1534C>G (p.Pro512Ala) c.1138C>G (p.Pro380Ala) c.1420C>G (p.Pro474Ala) n.843C>G n.1431C>G c.1237C>G (p.Pro413Ala) c.1027C>G (p.Pro343Ala) | gnomAD v4 |
| 1 | g.156175185C>T | CA342809487 | SEMA4A | c.1534C>T (p.Pro512Ser) c.1138C>T (p.Pro380Ser) c.1420C>T (p.Pro474Ser) n.843C>T n.1431C>T c.1237C>T (p.Pro413Ser) c.1027C>T (p.Pro343Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.156175186C>A | CA342809494 | SEMA4A | c.1535C>A (p.Pro512His) c.1139C>A (p.Pro380His) c.1421C>A (p.Pro474His) n.844C>A n.1432C>A c.1238C>A (p.Pro413His) c.1028C>A (p.Pro343His) | |
| 1 | g.156175186C= | CA1148334972 | SEMA4A | c.1535C= (p.Pro512=) c.1139C= (p.Pro380=) c.1421C= (p.Pro474=) n.844C= n.1432C= c.1238C= (p.Pro413=) c.1028C= (p.Pro343=) | |
| 1 | g.156175186C>G | CA1155391 | SEMA4A | c.1535C>G (p.Pro512Arg) c.1139C>G (p.Pro380Arg) c.1421C>G (p.Pro474Arg) n.844C>G n.1432C>G c.1238C>G (p.Pro413Arg) c.1028C>G (p.Pro343Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.156175186C>T | CA342809498 | SEMA4A | c.1535C>T (p.Pro512Leu) c.1139C>T (p.Pro380Leu) c.1421C>T (p.Pro474Leu) n.844C>T n.1432C>T c.1238C>T (p.Pro413Leu) c.1028C>T (p.Pro343Leu) | |
| 1 | g.156175187C>A | CA421258297 | SEMA4A | c.1536C>A (p.Pro512=) c.1140C>A (p.Pro380=) c.1422C>A (p.Pro474=) n.845C>A n.1433C>A c.1239C>A (p.Pro413=) c.1029C>A (p.Pro343=) | |
| 1 | g.156175187C>G | CA421258299 | SEMA4A | c.1536C>G (p.Pro512=) c.1140C>G (p.Pro380=) c.1422C>G (p.Pro474=) n.845C>G n.1433C>G c.1239C>G (p.Pro413=) c.1029C>G (p.Pro343=) | |
| 1 | g.156175187C>T | CA421258300 | SEMA4A | c.1536C>T (p.Pro512=) c.1140C>T (p.Pro380=) c.1422C>T (p.Pro474=) n.845C>T n.1433C>T c.1239C>T (p.Pro413=) c.1029C>T (p.Pro343=) | |
| 1 | g.156175188C>A | CA342809501 | SEMA4A | c.1537C>A (p.His513Asn) c.1141C>A (p.His381Asn) c.1423C>A (p.His475Asn) n.846C>A n.1434C>A c.1240C>A (p.His414Asn) c.1030C>A (p.His344Asn) | |
| 1 | g.156175188C= | CA1200489052 | SEMA4A | c.1537C= (p.His513=) c.1141C= (p.His381=) c.1423C= (p.His475=) n.846C= n.1434C= c.1240C= (p.His414=) c.1030C= (p.His344=) | |
| 1 | g.156175188C>G | CA342809503 | SEMA4A | c.1537C>G (p.His513Asp) c.1141C>G (p.His381Asp) c.1423C>G (p.His475Asp) n.846C>G n.1434C>G c.1240C>G (p.His414Asp) c.1030C>G (p.His344Asp) | |
| 1 | g.156175188C>T | CA342809505 | SEMA4A | c.1537C>T (p.His513Tyr) c.1141C>T (p.His381Tyr) c.1423C>T (p.His475Tyr) n.846C>T n.1434C>T c.1240C>T (p.His414Tyr) c.1030C>T (p.His344Tyr) | ClinVar dbSNP gnomAD v2 |
| 1 | g.156175189A>C | CA342809512 | SEMA4A | c.1538A>C (p.His513Pro) c.1142A>C (p.His381Pro) c.1424A>C (p.His475Pro) n.847A>C n.1435A>C c.1241A>C (p.His414Pro) c.1031A>C (p.His344Pro) | |
| 1 | g.156175189A>G | CA342809508 | SEMA4A | c.1538A>G (p.His513Arg) c.1142A>G (p.His381Arg) c.1424A>G (p.His475Arg) n.847A>G n.1435A>G c.1241A>G (p.His414Arg) c.1031A>G (p.His344Arg) | |
| 1 | g.156175189A>T | CA342809510 | SEMA4A | c.1538A>T (p.His513Leu) c.1142A>T (p.His381Leu) c.1424A>T (p.His475Leu) n.847A>T n.1435A>T c.1241A>T (p.His414Leu) c.1031A>T (p.His344Leu) | |
| 1 | g.156175190C>A | CA342809515 | SEMA4A | c.1539C>A (p.His513Gln) c.1143C>A (p.His381Gln) c.1425C>A (p.His475Gln) n.848C>A n.1436C>A c.1242C>A (p.His414Gln) c.1032C>A (p.His344Gln) | |
| 1 | g.156175190C>G | CA342809516 | SEMA4A | c.1539C>G (p.His513Gln) c.1143C>G (p.His381Gln) c.1425C>G (p.His475Gln) n.848C>G n.1436C>G c.1242C>G (p.His414Gln) c.1032C>G (p.His344Gln) | |
| 1 | g.156175190C>T | CA421258304 | SEMA4A | c.1539C>T (p.His513=) c.1143C>T (p.His381=) c.1425C>T (p.His475=) n.848C>T n.1436C>T c.1242C>T (p.His414=) c.1032C>T (p.His344=) | gnomAD v4 |
| 1 | g.156175191T>A | CA342809519 | SEMA4A | c.1540T>A (p.Cys514Ser) c.1144T>A (p.Cys382Ser) c.1426T>A (p.Cys476Ser) n.849T>A n.1437T>A c.1243T>A (p.Cys415Ser) c.1033T>A (p.Cys345Ser) | |
| 1 | g.156175191T>C | CA342809521 | SEMA4A | c.1540T>C (p.Cys514Arg) c.1144T>C (p.Cys382Arg) c.1426T>C (p.Cys476Arg) n.849T>C n.1437T>C c.1243T>C (p.Cys415Arg) c.1033T>C (p.Cys345Arg) | |
| 1 | g.156175191T>G | CA342809523 | SEMA4A | c.1540T>G (p.Cys514Gly) c.1144T>G (p.Cys382Gly) c.1426T>G (p.Cys476Gly) n.849T>G n.1437T>G c.1243T>G (p.Cys415Gly) c.1033T>G (p.Cys345Gly) | |
| 1 | g.156175192G>A | CA342809525 | SEMA4A | c.1541G>A (p.Cys514Tyr) c.1145G>A (p.Cys382Tyr) c.1427G>A (p.Cys476Tyr) n.850G>A n.1438G>A c.1244G>A (p.Cys415Tyr) c.1034G>A (p.Cys345Tyr) | gnomAD v4 |
| 1 | g.156175192G>C | CA342809529 | SEMA4A | c.1541G>C (p.Cys514Ser) c.1145G>C (p.Cys382Ser) c.1427G>C (p.Cys476Ser) n.850G>C n.1438G>C c.1244G>C (p.Cys415Ser) c.1034G>C (p.Cys345Ser) |