Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.96762257delCA2578367417CAST,ERAP1c.754-17del (n.754-17del)
c.1684-17del (n.1684-17del)
c.1462-17del (n.1462-17del)
c.1291-17del (n.1291-17del)
c.1576-17del (n.1576-17del)
c.1768-17del (n.1768-17del)
c.1834-17del (n.1834-17del)
c.215-17del
c.1736-17del
c.*1458-17del (n.*1458-17del)
c.551-17del
c.1447-17del (n.1447-17del)
c.1504-17del (n.1504-17del)
c.1723-17del (n.1723-17del)
n.378-17del
c.1378-17del (n.1378-17del)
c.*946del (n.*946del)
c.1519-17del (n.1519-17del)
c.1546-17del (n.1546-17del)
c.1585-17del (n.1585-17del)
n.1527-17del
c.1711-17del (n.1711-17del)
c.840-17del
c.812-17del
c.1369-17del (n.1369-17del)
c.730-17del (n.730-17del)
c.1480-17del (n.1480-17del)
c.70-17del (n.70-17del)
c.857-17del
c.1543-17del (n.1543-17del)
n.841-17del
c.1795-17del (n.1795-17del)
c.1789-17del (n.1789-17del)
c.1777-17del (n.1777-17del)
c.1732-17del (n.1732-17del)
c.1729-17del (n.1729-17del)
c.1666-17del (n.1666-17del)
c.1528-17del (n.1528-17del)
c.1423-17del (n.1423-17del)
c.1753-17del (n.1753-17del)
c.1750-17del (n.1750-17del)
c.1687-17del (n.1687-17del)
c.1642-17del (n.1642-17del)
c.1438-17del (n.1438-17del)
c.1738-17del (n.1738-17del)
c.1489-17del (n.1489-17del)
n.3931del
n.779-17del
 gnomAD v4
5g.96762256_96762257delCA2572253412CAST,ERAP1c.754-18_754-17del (n.754-18_754-17del)
c.1684-18_1684-17del (n.1684-18_1684-17del)
c.1462-18_1462-17del (n.1462-18_1462-17del)
c.1291-18_1291-17del (n.1291-18_1291-17del)
c.1576-18_1576-17del (n.1576-18_1576-17del)
c.1768-18_1768-17del (n.1768-18_1768-17del)
c.1834-18_1834-17del (n.1834-18_1834-17del)
c.215-18_215-17del
c.1736-18_1736-17del
c.*1458-18_*1458-17del (n.*1458-18_*1458-17del)
c.551-18_551-17del
c.1447-18_1447-17del (n.1447-18_1447-17del)
c.1504-18_1504-17del (n.1504-18_1504-17del)
c.1723-18_1723-17del (n.1723-18_1723-17del)
n.378-18_378-17del
c.1378-18_1378-17del (n.1378-18_1378-17del)
c.*945_*946del (n.*945_*946del)
c.1519-18_1519-17del (n.1519-18_1519-17del)
c.1546-18_1546-17del (n.1546-18_1546-17del)
c.1585-18_1585-17del (n.1585-18_1585-17del)
n.1527-18_1527-17del
c.1711-18_1711-17del (n.1711-18_1711-17del)
c.840-18_840-17del
c.812-18_812-17del
c.1369-18_1369-17del (n.1369-18_1369-17del)
c.730-18_730-17del (n.730-18_730-17del)
c.1480-18_1480-17del (n.1480-18_1480-17del)
c.70-18_70-17del (n.70-18_70-17del)
c.857-18_857-17del
c.1543-18_1543-17del (n.1543-18_1543-17del)
n.841-18_841-17del
c.1795-18_1795-17del (n.1795-18_1795-17del)
c.1789-18_1789-17del (n.1789-18_1789-17del)
c.1777-18_1777-17del (n.1777-18_1777-17del)
c.1732-18_1732-17del (n.1732-18_1732-17del)
c.1729-18_1729-17del (n.1729-18_1729-17del)
c.1666-18_1666-17del (n.1666-18_1666-17del)
c.1528-18_1528-17del (n.1528-18_1528-17del)
c.1423-18_1423-17del (n.1423-18_1423-17del)
c.1753-18_1753-17del (n.1753-18_1753-17del)
c.1750-18_1750-17del (n.1750-18_1750-17del)
c.1687-18_1687-17del (n.1687-18_1687-17del)
c.1642-18_1642-17del (n.1642-18_1642-17del)
c.1438-18_1438-17del (n.1438-18_1438-17del)
c.1738-18_1738-17del (n.1738-18_1738-17del)
c.1489-18_1489-17del (n.1489-18_1489-17del)
n.3930_3931del
n.779-18_779-17del
5g.96762257A=CA1565569252CAST,ERAP1c.754-17A= (n.754-17A=)
c.1684-17A= (n.1684-17A=)
c.1462-17A= (n.1462-17A=)
c.1291-17A= (n.1291-17A=)
c.1576-17A= (n.1576-17A=)
c.1768-17A= (n.1768-17A=)
c.1834-17A= (n.1834-17A=)
c.215-17A=
c.1736-17A=
c.*1458-17A= (n.*1458-17A=)
c.551-17A=
c.1447-17A= (n.1447-17A=)
c.1504-17A= (n.1504-17A=)
c.1723-17A= (n.1723-17A=)
n.378-17A=
c.1378-17A= (n.1378-17A=)
c.*943T= (n.*943T=)
c.1519-17A= (n.1519-17A=)
c.1546-17A= (n.1546-17A=)
c.1585-17A= (n.1585-17A=)
n.1527-17A=
c.1711-17A= (n.1711-17A=)
c.840-17A=
c.812-17A=
c.1369-17A= (n.1369-17A=)
c.730-17A= (n.730-17A=)
c.1480-17A= (n.1480-17A=)
c.70-17A= (n.70-17A=)
c.857-17A=
c.1543-17A= (n.1543-17A=)
n.841-17A=
c.1795-17A= (n.1795-17A=)
c.1789-17A= (n.1789-17A=)
c.1777-17A= (n.1777-17A=)
c.1732-17A= (n.1732-17A=)
c.1729-17A= (n.1729-17A=)
c.1666-17A= (n.1666-17A=)
c.1528-17A= (n.1528-17A=)
c.1423-17A= (n.1423-17A=)
c.1753-17A= (n.1753-17A=)
c.1750-17A= (n.1750-17A=)
c.1687-17A= (n.1687-17A=)
c.1642-17A= (n.1642-17A=)
c.1438-17A= (n.1438-17A=)
c.1738-17A= (n.1738-17A=)
c.1489-17A= (n.1489-17A=)
n.3928T=
n.779-17A=
5g.96762257A>GCA3351492CAST,ERAP1c.754-17A>G (n.754-17A>G)
c.1684-17A>G (n.1684-17A>G)
c.1462-17A>G (n.1462-17A>G)
c.1291-17A>G (n.1291-17A>G)
c.1576-17A>G (n.1576-17A>G)
c.1768-17A>G (n.1768-17A>G)
c.1834-17A>G (n.1834-17A>G)
c.215-17A>G
c.1736-17A>G
c.*1458-17A>G (n.*1458-17A>G)
c.551-17A>G
c.1447-17A>G (n.1447-17A>G)
c.1504-17A>G (n.1504-17A>G)
c.1723-17A>G (n.1723-17A>G)
n.378-17A>G
c.1378-17A>G (n.1378-17A>G)
c.*943T>C (n.*943T>C)
c.1519-17A>G (n.1519-17A>G)
c.1546-17A>G (n.1546-17A>G)
c.1585-17A>G (n.1585-17A>G)
n.1527-17A>G
c.1711-17A>G (n.1711-17A>G)
c.840-17A>G
c.812-17A>G
c.1369-17A>G (n.1369-17A>G)
c.730-17A>G (n.730-17A>G)
c.1480-17A>G (n.1480-17A>G)
c.70-17A>G (n.70-17A>G)
c.857-17A>G
c.1543-17A>G (n.1543-17A>G)
n.841-17A>G
c.1795-17A>G (n.1795-17A>G)
c.1789-17A>G (n.1789-17A>G)
c.1777-17A>G (n.1777-17A>G)
c.1732-17A>G (n.1732-17A>G)
c.1729-17A>G (n.1729-17A>G)
c.1666-17A>G (n.1666-17A>G)
c.1528-17A>G (n.1528-17A>G)
c.1423-17A>G (n.1423-17A>G)
c.1753-17A>G (n.1753-17A>G)
c.1750-17A>G (n.1750-17A>G)
c.1687-17A>G (n.1687-17A>G)
c.1642-17A>G (n.1642-17A>G)
c.1438-17A>G (n.1438-17A>G)
c.1738-17A>G (n.1738-17A>G)
c.1489-17A>G (n.1489-17A>G)
n.3928T>C
n.779-17A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762257A>TCA1565569251CAST,ERAP1c.754-17A>T (n.754-17A>T)
c.1684-17A>T (n.1684-17A>T)
c.1462-17A>T (n.1462-17A>T)
c.1291-17A>T (n.1291-17A>T)
c.1576-17A>T (n.1576-17A>T)
c.1768-17A>T (n.1768-17A>T)
c.1834-17A>T (n.1834-17A>T)
c.215-17A>T
c.1736-17A>T
c.*1458-17A>T (n.*1458-17A>T)
c.551-17A>T
c.1447-17A>T (n.1447-17A>T)
c.1504-17A>T (n.1504-17A>T)
c.1723-17A>T (n.1723-17A>T)
n.378-17A>T
c.1378-17A>T (n.1378-17A>T)
c.*943T>A (n.*943T>A)
c.1519-17A>T (n.1519-17A>T)
c.1546-17A>T (n.1546-17A>T)
c.1585-17A>T (n.1585-17A>T)
n.1527-17A>T
c.1711-17A>T (n.1711-17A>T)
c.840-17A>T
c.812-17A>T
c.1369-17A>T (n.1369-17A>T)
c.730-17A>T (n.730-17A>T)
c.1480-17A>T (n.1480-17A>T)
c.70-17A>T (n.70-17A>T)
c.857-17A>T
c.1543-17A>T (n.1543-17A>T)
n.841-17A>T
c.1795-17A>T (n.1795-17A>T)
c.1789-17A>T (n.1789-17A>T)
c.1777-17A>T (n.1777-17A>T)
c.1732-17A>T (n.1732-17A>T)
c.1729-17A>T (n.1729-17A>T)
c.1666-17A>T (n.1666-17A>T)
c.1528-17A>T (n.1528-17A>T)
c.1423-17A>T (n.1423-17A>T)
c.1753-17A>T (n.1753-17A>T)
c.1750-17A>T (n.1750-17A>T)
c.1687-17A>T (n.1687-17A>T)
c.1642-17A>T (n.1642-17A>T)
c.1438-17A>T (n.1438-17A>T)
c.1738-17A>T (n.1738-17A>T)
c.1489-17A>T (n.1489-17A>T)
n.3928T>A
n.779-17A>T
 dbSNP gnomAD v4
5g.96762257_96762258delinsATCA1565569253CAST,ERAP1c.754-17_754-16delinsAT (n.754-17_754-16delinsAT)
c.1684-17_1684-16delinsAT (n.1684-17_1684-16delinsAT)
c.1462-17_1462-16delinsAT (n.1462-17_1462-16delinsAT)
c.1291-17_1291-16delinsAT (n.1291-17_1291-16delinsAT)
c.1576-17_1576-16delinsAT (n.1576-17_1576-16delinsAT)
c.1768-17_1768-16delinsAT (n.1768-17_1768-16delinsAT)
c.1834-17_1834-16delinsAT (n.1834-17_1834-16delinsAT)
c.215-17_215-16delinsAT
c.1736-17_1736-16delinsAT
c.*1458-17_*1458-16delinsAT (n.*1458-17_*1458-16delinsAT)
c.551-17_551-16delinsAT
c.1447-17_1447-16delinsAT (n.1447-17_1447-16delinsAT)
c.1504-17_1504-16delinsAT (n.1504-17_1504-16delinsAT)
c.1723-17_1723-16delinsAT (n.1723-17_1723-16delinsAT)
n.378-17_378-16delinsAT
c.1378-17_1378-16delinsAT (n.1378-17_1378-16delinsAT)
c.*942_*943delinsAT (n.*942_*943delinsAT)
c.1519-17_1519-16delinsAT (n.1519-17_1519-16delinsAT)
c.1546-17_1546-16delinsAT (n.1546-17_1546-16delinsAT)
c.1585-17_1585-16delinsAT (n.1585-17_1585-16delinsAT)
n.1527-17_1527-16delinsAT
c.1711-17_1711-16delinsAT (n.1711-17_1711-16delinsAT)
c.840-17_840-16delinsAT
c.812-17_812-16delinsAT
c.1369-17_1369-16delinsAT (n.1369-17_1369-16delinsAT)
c.730-17_730-16delinsAT (n.730-17_730-16delinsAT)
c.1480-17_1480-16delinsAT (n.1480-17_1480-16delinsAT)
c.70-17_70-16delinsAT (n.70-17_70-16delinsAT)
c.857-17_857-16delinsAT
c.1543-17_1543-16delinsAT (n.1543-17_1543-16delinsAT)
n.841-17_841-16delinsAT
c.1795-17_1795-16delinsAT (n.1795-17_1795-16delinsAT)
c.1789-17_1789-16delinsAT (n.1789-17_1789-16delinsAT)
c.1777-17_1777-16delinsAT (n.1777-17_1777-16delinsAT)
c.1732-17_1732-16delinsAT (n.1732-17_1732-16delinsAT)
c.1729-17_1729-16delinsAT (n.1729-17_1729-16delinsAT)
c.1666-17_1666-16delinsAT (n.1666-17_1666-16delinsAT)
c.1528-17_1528-16delinsAT (n.1528-17_1528-16delinsAT)
c.1423-17_1423-16delinsAT (n.1423-17_1423-16delinsAT)
c.1753-17_1753-16delinsAT (n.1753-17_1753-16delinsAT)
c.1750-17_1750-16delinsAT (n.1750-17_1750-16delinsAT)
c.1687-17_1687-16delinsAT (n.1687-17_1687-16delinsAT)
c.1642-17_1642-16delinsAT (n.1642-17_1642-16delinsAT)
c.1438-17_1438-16delinsAT (n.1438-17_1438-16delinsAT)
c.1738-17_1738-16delinsAT (n.1738-17_1738-16delinsAT)
c.1489-17_1489-16delinsAT (n.1489-17_1489-16delinsAT)
n.3927_3928delinsAT
n.779-17_779-16delinsAT
5g.96762258T>ACA1079050247CAST,ERAP1c.754-16T>A (n.754-16T>A)
c.1684-16T>A (n.1684-16T>A)
c.1462-16T>A (n.1462-16T>A)
c.1291-16T>A (n.1291-16T>A)
c.1576-16T>A (n.1576-16T>A)
c.1768-16T>A (n.1768-16T>A)
c.1834-16T>A (n.1834-16T>A)
c.215-16T>A
c.1736-16T>A
c.*1458-16T>A (n.*1458-16T>A)
c.551-16T>A
c.1447-16T>A (n.1447-16T>A)
c.1504-16T>A (n.1504-16T>A)
c.1723-16T>A (n.1723-16T>A)
n.378-16T>A
c.1378-16T>A (n.1378-16T>A)
c.*942A>T (n.*942A>T)
c.1519-16T>A (n.1519-16T>A)
c.1546-16T>A (n.1546-16T>A)
c.1585-16T>A (n.1585-16T>A)
n.1527-16T>A
c.1711-16T>A (n.1711-16T>A)
c.840-16T>A
c.812-16T>A
c.1369-16T>A (n.1369-16T>A)
c.730-16T>A (n.730-16T>A)
c.1480-16T>A (n.1480-16T>A)
c.70-16T>A (n.70-16T>A)
c.857-16T>A
c.1543-16T>A (n.1543-16T>A)
n.841-16T>A
c.1795-16T>A (n.1795-16T>A)
c.1789-16T>A (n.1789-16T>A)
c.1777-16T>A (n.1777-16T>A)
c.1732-16T>A (n.1732-16T>A)
c.1729-16T>A (n.1729-16T>A)
c.1666-16T>A (n.1666-16T>A)
c.1528-16T>A (n.1528-16T>A)
c.1423-16T>A (n.1423-16T>A)
c.1753-16T>A (n.1753-16T>A)
c.1750-16T>A (n.1750-16T>A)
c.1687-16T>A (n.1687-16T>A)
c.1642-16T>A (n.1642-16T>A)
c.1438-16T>A (n.1438-16T>A)
c.1738-16T>A (n.1738-16T>A)
c.1489-16T>A (n.1489-16T>A)
n.3927A>T
n.779-16T>A
 dbSNP gnomAD v3 gnomAD v4
5g.96762258T>GCA1079050251CAST,ERAP1c.754-16T>G (n.754-16T>G)
c.1684-16T>G (n.1684-16T>G)
c.1462-16T>G (n.1462-16T>G)
c.1291-16T>G (n.1291-16T>G)
c.1576-16T>G (n.1576-16T>G)
c.1768-16T>G (n.1768-16T>G)
c.1834-16T>G (n.1834-16T>G)
c.215-16T>G
c.1736-16T>G
c.*1458-16T>G (n.*1458-16T>G)
c.551-16T>G
c.1447-16T>G (n.1447-16T>G)
c.1504-16T>G (n.1504-16T>G)
c.1723-16T>G (n.1723-16T>G)
n.378-16T>G
c.1378-16T>G (n.1378-16T>G)
c.*942A>C (n.*942A>C)
c.1519-16T>G (n.1519-16T>G)
c.1546-16T>G (n.1546-16T>G)
c.1585-16T>G (n.1585-16T>G)
n.1527-16T>G
c.1711-16T>G (n.1711-16T>G)
c.840-16T>G
c.812-16T>G
c.1369-16T>G (n.1369-16T>G)
c.730-16T>G (n.730-16T>G)
c.1480-16T>G (n.1480-16T>G)
c.70-16T>G (n.70-16T>G)
c.857-16T>G
c.1543-16T>G (n.1543-16T>G)
n.841-16T>G
c.1795-16T>G (n.1795-16T>G)
c.1789-16T>G (n.1789-16T>G)
c.1777-16T>G (n.1777-16T>G)
c.1732-16T>G (n.1732-16T>G)
c.1729-16T>G (n.1729-16T>G)
c.1666-16T>G (n.1666-16T>G)
c.1528-16T>G (n.1528-16T>G)
c.1423-16T>G (n.1423-16T>G)
c.1753-16T>G (n.1753-16T>G)
c.1750-16T>G (n.1750-16T>G)
c.1687-16T>G (n.1687-16T>G)
c.1642-16T>G (n.1642-16T>G)
c.1438-16T>G (n.1438-16T>G)
c.1738-16T>G (n.1738-16T>G)
c.1489-16T>G (n.1489-16T>G)
n.3927A>C
n.779-16T>G
 dbSNP gnomAD v3 gnomAD v4
5g.96762258T=CA1565569254CAST,ERAP1c.754-16T= (n.754-16T=)
c.1684-16T= (n.1684-16T=)
c.1462-16T= (n.1462-16T=)
c.1291-16T= (n.1291-16T=)
c.1576-16T= (n.1576-16T=)
c.1768-16T= (n.1768-16T=)
c.1834-16T= (n.1834-16T=)
c.215-16T=
c.1736-16T=
c.*1458-16T= (n.*1458-16T=)
c.551-16T=
c.1447-16T= (n.1447-16T=)
c.1504-16T= (n.1504-16T=)
c.1723-16T= (n.1723-16T=)
n.378-16T=
c.1378-16T= (n.1378-16T=)
c.*942A= (n.*942A=)
c.1519-16T= (n.1519-16T=)
c.1546-16T= (n.1546-16T=)
c.1585-16T= (n.1585-16T=)
n.1527-16T=
c.1711-16T= (n.1711-16T=)
c.840-16T=
c.812-16T=
c.1369-16T= (n.1369-16T=)
c.730-16T= (n.730-16T=)
c.1480-16T= (n.1480-16T=)
c.70-16T= (n.70-16T=)
c.857-16T=
c.1543-16T= (n.1543-16T=)
n.841-16T=
c.1795-16T= (n.1795-16T=)
c.1789-16T= (n.1789-16T=)
c.1777-16T= (n.1777-16T=)
c.1732-16T= (n.1732-16T=)
c.1729-16T= (n.1729-16T=)
c.1666-16T= (n.1666-16T=)
c.1528-16T= (n.1528-16T=)
c.1423-16T= (n.1423-16T=)
c.1753-16T= (n.1753-16T=)
c.1750-16T= (n.1750-16T=)
c.1687-16T= (n.1687-16T=)
c.1642-16T= (n.1642-16T=)
c.1438-16T= (n.1438-16T=)
c.1738-16T= (n.1738-16T=)
c.1489-16T= (n.1489-16T=)
n.3927A=
n.779-16T=
5g.96762264dupCA122976383CAST,ERAP1c.754-10dup (n.754-10dup)
c.1684-10dup (n.1684-10dup)
c.1462-10dup (n.1462-10dup)
c.1291-10dup (n.1291-10dup)
c.1576-10dup (n.1576-10dup)
c.1768-10dup (n.1768-10dup)
c.1834-10dup (n.1834-10dup)
c.215-10dup
c.1736-10dup
c.*1458-10dup (n.*1458-10dup)
c.551-10dup
c.1447-10dup (n.1447-10dup)
c.1504-10dup (n.1504-10dup)
c.1723-10dup (n.1723-10dup)
n.378-10dup
c.1378-10dup (n.1378-10dup)
c.*942dup (n.*942dup)
c.1519-10dup (n.1519-10dup)
c.1546-10dup (n.1546-10dup)
c.1585-10dup (n.1585-10dup)
n.1527-10dup
c.1711-10dup (n.1711-10dup)
c.840-10dup
c.812-10dup
c.1369-10dup (n.1369-10dup)
c.730-10dup (n.730-10dup)
c.1480-10dup (n.1480-10dup)
c.70-10dup (n.70-10dup)
c.857-10dup
c.1543-10dup (n.1543-10dup)
n.841-10dup
c.1795-10dup (n.1795-10dup)
c.1789-10dup (n.1789-10dup)
c.1777-10dup (n.1777-10dup)
c.1732-10dup (n.1732-10dup)
c.1729-10dup (n.1729-10dup)
c.1666-10dup (n.1666-10dup)
c.1528-10dup (n.1528-10dup)
c.1423-10dup (n.1423-10dup)
c.1753-10dup (n.1753-10dup)
c.1750-10dup (n.1750-10dup)
c.1687-10dup (n.1687-10dup)
c.1642-10dup (n.1642-10dup)
c.1438-10dup (n.1438-10dup)
c.1738-10dup (n.1738-10dup)
c.1489-10dup (n.1489-10dup)
n.3927dup
n.779-10dup
 dbSNP gnomAD v2 gnomAD v4
5g.96762264delCA815911254CAST,ERAP1c.754-10del (n.754-10del)
c.1684-10del (n.1684-10del)
c.1462-10del (n.1462-10del)
c.1291-10del (n.1291-10del)
c.1576-10del (n.1576-10del)
c.1768-10del (n.1768-10del)
c.1834-10del (n.1834-10del)
c.215-10del
c.1736-10del
c.*1458-10del (n.*1458-10del)
c.551-10del
c.1447-10del (n.1447-10del)
c.1504-10del (n.1504-10del)
c.1723-10del (n.1723-10del)
n.378-10del
c.1378-10del (n.1378-10del)
c.*942del (n.*942del)
c.1519-10del (n.1519-10del)
c.1546-10del (n.1546-10del)
c.1585-10del (n.1585-10del)
n.1527-10del
c.1711-10del (n.1711-10del)
c.840-10del
c.812-10del
c.1369-10del (n.1369-10del)
c.730-10del (n.730-10del)
c.1480-10del (n.1480-10del)
c.70-10del (n.70-10del)
c.857-10del
c.1543-10del (n.1543-10del)
n.841-10del
c.1795-10del (n.1795-10del)
c.1789-10del (n.1789-10del)
c.1777-10del (n.1777-10del)
c.1732-10del (n.1732-10del)
c.1729-10del (n.1729-10del)
c.1666-10del (n.1666-10del)
c.1528-10del (n.1528-10del)
c.1423-10del (n.1423-10del)
c.1753-10del (n.1753-10del)
c.1750-10del (n.1750-10del)
c.1687-10del (n.1687-10del)
c.1642-10del (n.1642-10del)
c.1438-10del (n.1438-10del)
c.1738-10del (n.1738-10del)
c.1489-10del (n.1489-10del)
n.3927del
n.779-10del
 dbSNP gnomAD v3 gnomAD v4
5g.96762262_96762264delCA2674677807CAST,ERAP1c.754-12_754-10del (n.754-12_754-10del)
c.1684-12_1684-10del (n.1684-12_1684-10del)
c.1462-12_1462-10del (n.1462-12_1462-10del)
c.1291-12_1291-10del (n.1291-12_1291-10del)
c.1576-12_1576-10del (n.1576-12_1576-10del)
c.1768-12_1768-10del (n.1768-12_1768-10del)
c.1834-12_1834-10del (n.1834-12_1834-10del)
c.215-12_215-10del
c.1736-12_1736-10del
c.*1458-12_*1458-10del (n.*1458-12_*1458-10del)
c.551-12_551-10del
c.1447-12_1447-10del (n.1447-12_1447-10del)
c.1504-12_1504-10del (n.1504-12_1504-10del)
c.1723-12_1723-10del (n.1723-12_1723-10del)
n.378-12_378-10del
c.1378-12_1378-10del (n.1378-12_1378-10del)
c.*940_*942del (n.*940_*942del)
c.1519-12_1519-10del (n.1519-12_1519-10del)
c.1546-12_1546-10del (n.1546-12_1546-10del)
c.1585-12_1585-10del (n.1585-12_1585-10del)
n.1527-12_1527-10del
c.1711-12_1711-10del (n.1711-12_1711-10del)
c.840-12_840-10del
c.812-12_812-10del
c.1369-12_1369-10del (n.1369-12_1369-10del)
c.730-12_730-10del (n.730-12_730-10del)
c.1480-12_1480-10del (n.1480-12_1480-10del)
c.70-12_70-10del (n.70-12_70-10del)
c.857-12_857-10del
c.1543-12_1543-10del (n.1543-12_1543-10del)
n.841-12_841-10del
c.1795-12_1795-10del (n.1795-12_1795-10del)
c.1789-12_1789-10del (n.1789-12_1789-10del)
c.1777-12_1777-10del (n.1777-12_1777-10del)
c.1732-12_1732-10del (n.1732-12_1732-10del)
c.1729-12_1729-10del (n.1729-12_1729-10del)
c.1666-12_1666-10del (n.1666-12_1666-10del)
c.1528-12_1528-10del (n.1528-12_1528-10del)
c.1423-12_1423-10del (n.1423-12_1423-10del)
c.1753-12_1753-10del (n.1753-12_1753-10del)
c.1750-12_1750-10del (n.1750-12_1750-10del)
c.1687-12_1687-10del (n.1687-12_1687-10del)
c.1642-12_1642-10del (n.1642-12_1642-10del)
c.1438-12_1438-10del (n.1438-12_1438-10del)
c.1738-12_1738-10del (n.1738-12_1738-10del)
c.1489-12_1489-10del (n.1489-12_1489-10del)
n.3925_3927del
n.779-12_779-10del
 gnomAD v4
5g.96762259T>CCA815911256CAST,ERAP1c.754-15T>C (n.754-15T>C)
c.1684-15T>C (n.1684-15T>C)
c.1462-15T>C (n.1462-15T>C)
c.1291-15T>C (n.1291-15T>C)
c.1576-15T>C (n.1576-15T>C)
c.1768-15T>C (n.1768-15T>C)
c.1834-15T>C (n.1834-15T>C)
c.215-15T>C
c.1736-15T>C
c.*1458-15T>C (n.*1458-15T>C)
c.551-15T>C
c.1447-15T>C (n.1447-15T>C)
c.1504-15T>C (n.1504-15T>C)
c.1723-15T>C (n.1723-15T>C)
n.378-15T>C
c.1378-15T>C (n.1378-15T>C)
c.*941A>G (n.*941A>G)
c.1519-15T>C (n.1519-15T>C)
c.1546-15T>C (n.1546-15T>C)
c.1585-15T>C (n.1585-15T>C)
n.1527-15T>C
c.1711-15T>C (n.1711-15T>C)
c.840-15T>C
c.812-15T>C
c.1369-15T>C (n.1369-15T>C)
c.730-15T>C (n.730-15T>C)
c.1480-15T>C (n.1480-15T>C)
c.70-15T>C (n.70-15T>C)
c.857-15T>C
c.1543-15T>C (n.1543-15T>C)
n.841-15T>C
c.1795-15T>C (n.1795-15T>C)
c.1789-15T>C (n.1789-15T>C)
c.1777-15T>C (n.1777-15T>C)
c.1732-15T>C (n.1732-15T>C)
c.1729-15T>C (n.1729-15T>C)
c.1666-15T>C (n.1666-15T>C)
c.1528-15T>C (n.1528-15T>C)
c.1423-15T>C (n.1423-15T>C)
c.1753-15T>C (n.1753-15T>C)
c.1750-15T>C (n.1750-15T>C)
c.1687-15T>C (n.1687-15T>C)
c.1642-15T>C (n.1642-15T>C)
c.1438-15T>C (n.1438-15T>C)
c.1738-15T>C (n.1738-15T>C)
c.1489-15T>C (n.1489-15T>C)
n.3926A>G
n.779-15T>C
 dbSNP gnomAD v3 gnomAD v4
5g.96762259T>GCA1565569256CAST,ERAP1c.754-15T>G (n.754-15T>G)
c.1684-15T>G (n.1684-15T>G)
c.1462-15T>G (n.1462-15T>G)
c.1291-15T>G (n.1291-15T>G)
c.1576-15T>G (n.1576-15T>G)
c.1768-15T>G (n.1768-15T>G)
c.1834-15T>G (n.1834-15T>G)
c.215-15T>G
c.1736-15T>G
c.*1458-15T>G (n.*1458-15T>G)
c.551-15T>G
c.1447-15T>G (n.1447-15T>G)
c.1504-15T>G (n.1504-15T>G)
c.1723-15T>G (n.1723-15T>G)
n.378-15T>G
c.1378-15T>G (n.1378-15T>G)
c.*941A>C (n.*941A>C)
c.1519-15T>G (n.1519-15T>G)
c.1546-15T>G (n.1546-15T>G)
c.1585-15T>G (n.1585-15T>G)
n.1527-15T>G
c.1711-15T>G (n.1711-15T>G)
c.840-15T>G
c.812-15T>G
c.1369-15T>G (n.1369-15T>G)
c.730-15T>G (n.730-15T>G)
c.1480-15T>G (n.1480-15T>G)
c.70-15T>G (n.70-15T>G)
c.857-15T>G
c.1543-15T>G (n.1543-15T>G)
n.841-15T>G
c.1795-15T>G (n.1795-15T>G)
c.1789-15T>G (n.1789-15T>G)
c.1777-15T>G (n.1777-15T>G)
c.1732-15T>G (n.1732-15T>G)
c.1729-15T>G (n.1729-15T>G)
c.1666-15T>G (n.1666-15T>G)
c.1528-15T>G (n.1528-15T>G)
c.1423-15T>G (n.1423-15T>G)
c.1753-15T>G (n.1753-15T>G)
c.1750-15T>G (n.1750-15T>G)
c.1687-15T>G (n.1687-15T>G)
c.1642-15T>G (n.1642-15T>G)
c.1438-15T>G (n.1438-15T>G)
c.1738-15T>G (n.1738-15T>G)
c.1489-15T>G (n.1489-15T>G)
n.3926A>C
n.779-15T>G
 dbSNP
5g.96762259T=CA1565569255CAST,ERAP1c.754-15T= (n.754-15T=)
c.1684-15T= (n.1684-15T=)
c.1462-15T= (n.1462-15T=)
c.1291-15T= (n.1291-15T=)
c.1576-15T= (n.1576-15T=)
c.1768-15T= (n.1768-15T=)
c.1834-15T= (n.1834-15T=)
c.215-15T=
c.1736-15T=
c.*1458-15T= (n.*1458-15T=)
c.551-15T=
c.1447-15T= (n.1447-15T=)
c.1504-15T= (n.1504-15T=)
c.1723-15T= (n.1723-15T=)
n.378-15T=
c.1378-15T= (n.1378-15T=)
c.*941A= (n.*941A=)
c.1519-15T= (n.1519-15T=)
c.1546-15T= (n.1546-15T=)
c.1585-15T= (n.1585-15T=)
n.1527-15T=
c.1711-15T= (n.1711-15T=)
c.840-15T=
c.812-15T=
c.1369-15T= (n.1369-15T=)
c.730-15T= (n.730-15T=)
c.1480-15T= (n.1480-15T=)
c.70-15T= (n.70-15T=)
c.857-15T=
c.1543-15T= (n.1543-15T=)
n.841-15T=
c.1795-15T= (n.1795-15T=)
c.1789-15T= (n.1789-15T=)
c.1777-15T= (n.1777-15T=)
c.1732-15T= (n.1732-15T=)
c.1729-15T= (n.1729-15T=)
c.1666-15T= (n.1666-15T=)
c.1528-15T= (n.1528-15T=)
c.1423-15T= (n.1423-15T=)
c.1753-15T= (n.1753-15T=)
c.1750-15T= (n.1750-15T=)
c.1687-15T= (n.1687-15T=)
c.1642-15T= (n.1642-15T=)
c.1438-15T= (n.1438-15T=)
c.1738-15T= (n.1738-15T=)
c.1489-15T= (n.1489-15T=)
n.3926A=
n.779-15T=
5g.96762260T>CCA561303007CAST,ERAP1c.754-14T>C (n.754-14T>C)
c.1684-14T>C (n.1684-14T>C)
c.1462-14T>C (n.1462-14T>C)
c.1291-14T>C (n.1291-14T>C)
c.1576-14T>C (n.1576-14T>C)
c.1768-14T>C (n.1768-14T>C)
c.1834-14T>C (n.1834-14T>C)
c.215-14T>C
c.1736-14T>C
c.*1458-14T>C (n.*1458-14T>C)
c.551-14T>C
c.1447-14T>C (n.1447-14T>C)
c.1504-14T>C (n.1504-14T>C)
c.1723-14T>C (n.1723-14T>C)
n.378-14T>C
c.1378-14T>C (n.1378-14T>C)
c.*940A>G (n.*940A>G)
c.1519-14T>C (n.1519-14T>C)
c.1546-14T>C (n.1546-14T>C)
c.1585-14T>C (n.1585-14T>C)
n.1527-14T>C
c.1711-14T>C (n.1711-14T>C)
c.840-14T>C
c.812-14T>C
c.1369-14T>C (n.1369-14T>C)
c.730-14T>C (n.730-14T>C)
c.1480-14T>C (n.1480-14T>C)
c.70-14T>C (n.70-14T>C)
c.857-14T>C
c.1543-14T>C (n.1543-14T>C)
n.841-14T>C
c.1795-14T>C (n.1795-14T>C)
c.1789-14T>C (n.1789-14T>C)
c.1777-14T>C (n.1777-14T>C)
c.1732-14T>C (n.1732-14T>C)
c.1729-14T>C (n.1729-14T>C)
c.1666-14T>C (n.1666-14T>C)
c.1528-14T>C (n.1528-14T>C)
c.1423-14T>C (n.1423-14T>C)
c.1753-14T>C (n.1753-14T>C)
c.1750-14T>C (n.1750-14T>C)
c.1687-14T>C (n.1687-14T>C)
c.1642-14T>C (n.1642-14T>C)
c.1438-14T>C (n.1438-14T>C)
c.1738-14T>C (n.1738-14T>C)
c.1489-14T>C (n.1489-14T>C)
n.3925A>G
n.779-14T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.96762260T>GCA2674677808CAST,ERAP1c.754-14T>G (n.754-14T>G)
c.1684-14T>G (n.1684-14T>G)
c.1462-14T>G (n.1462-14T>G)
c.1291-14T>G (n.1291-14T>G)
c.1576-14T>G (n.1576-14T>G)
c.1768-14T>G (n.1768-14T>G)
c.1834-14T>G (n.1834-14T>G)
c.215-14T>G
c.1736-14T>G
c.*1458-14T>G (n.*1458-14T>G)
c.551-14T>G
c.1447-14T>G (n.1447-14T>G)
c.1504-14T>G (n.1504-14T>G)
c.1723-14T>G (n.1723-14T>G)
n.378-14T>G
c.1378-14T>G (n.1378-14T>G)
c.*940A>C (n.*940A>C)
c.1519-14T>G (n.1519-14T>G)
c.1546-14T>G (n.1546-14T>G)
c.1585-14T>G (n.1585-14T>G)
n.1527-14T>G
c.1711-14T>G (n.1711-14T>G)
c.840-14T>G
c.812-14T>G
c.1369-14T>G (n.1369-14T>G)
c.730-14T>G (n.730-14T>G)
c.1480-14T>G (n.1480-14T>G)
c.70-14T>G (n.70-14T>G)
c.857-14T>G
c.1543-14T>G (n.1543-14T>G)
n.841-14T>G
c.1795-14T>G (n.1795-14T>G)
c.1789-14T>G (n.1789-14T>G)
c.1777-14T>G (n.1777-14T>G)
c.1732-14T>G (n.1732-14T>G)
c.1729-14T>G (n.1729-14T>G)
c.1666-14T>G (n.1666-14T>G)
c.1528-14T>G (n.1528-14T>G)
c.1423-14T>G (n.1423-14T>G)
c.1753-14T>G (n.1753-14T>G)
c.1750-14T>G (n.1750-14T>G)
c.1687-14T>G (n.1687-14T>G)
c.1642-14T>G (n.1642-14T>G)
c.1438-14T>G (n.1438-14T>G)
c.1738-14T>G (n.1738-14T>G)
c.1489-14T>G (n.1489-14T>G)
n.3925A>C
n.779-14T>G
 gnomAD v4
5g.96762260T=CA1565569257CAST,ERAP1c.754-14T= (n.754-14T=)
c.1684-14T= (n.1684-14T=)
c.1462-14T= (n.1462-14T=)
c.1291-14T= (n.1291-14T=)
c.1576-14T= (n.1576-14T=)
c.1768-14T= (n.1768-14T=)
c.1834-14T= (n.1834-14T=)
c.215-14T=
c.1736-14T=
c.*1458-14T= (n.*1458-14T=)
c.551-14T=
c.1447-14T= (n.1447-14T=)
c.1504-14T= (n.1504-14T=)
c.1723-14T= (n.1723-14T=)
n.378-14T=
c.1378-14T= (n.1378-14T=)
c.*940A= (n.*940A=)
c.1519-14T= (n.1519-14T=)
c.1546-14T= (n.1546-14T=)
c.1585-14T= (n.1585-14T=)
n.1527-14T=
c.1711-14T= (n.1711-14T=)
c.840-14T=
c.812-14T=
c.1369-14T= (n.1369-14T=)
c.730-14T= (n.730-14T=)
c.1480-14T= (n.1480-14T=)
c.70-14T= (n.70-14T=)
c.857-14T=
c.1543-14T= (n.1543-14T=)
n.841-14T=
c.1795-14T= (n.1795-14T=)
c.1789-14T= (n.1789-14T=)
c.1777-14T= (n.1777-14T=)
c.1732-14T= (n.1732-14T=)
c.1729-14T= (n.1729-14T=)
c.1666-14T= (n.1666-14T=)
c.1528-14T= (n.1528-14T=)
c.1423-14T= (n.1423-14T=)
c.1753-14T= (n.1753-14T=)
c.1750-14T= (n.1750-14T=)
c.1687-14T= (n.1687-14T=)
c.1642-14T= (n.1642-14T=)
c.1438-14T= (n.1438-14T=)
c.1738-14T= (n.1738-14T=)
c.1489-14T= (n.1489-14T=)
n.3925A=
n.779-14T=
5g.96762261T>ACA3351493CAST,ERAP1c.754-13T>A (n.754-13T>A)
c.1684-13T>A (n.1684-13T>A)
c.1462-13T>A (n.1462-13T>A)
c.1291-13T>A (n.1291-13T>A)
c.1576-13T>A (n.1576-13T>A)
c.1768-13T>A (n.1768-13T>A)
c.1834-13T>A (n.1834-13T>A)
c.215-13T>A
c.1736-13T>A
c.*1458-13T>A (n.*1458-13T>A)
c.551-13T>A
c.1447-13T>A (n.1447-13T>A)
c.1504-13T>A (n.1504-13T>A)
c.1723-13T>A (n.1723-13T>A)
n.378-13T>A
c.1378-13T>A (n.1378-13T>A)
c.*939A>T (n.*939A>T)
c.1519-13T>A (n.1519-13T>A)
c.1546-13T>A (n.1546-13T>A)
c.1585-13T>A (n.1585-13T>A)
n.1527-13T>A
c.1711-13T>A (n.1711-13T>A)
c.840-13T>A
c.812-13T>A
c.1369-13T>A (n.1369-13T>A)
c.730-13T>A (n.730-13T>A)
c.1480-13T>A (n.1480-13T>A)
c.70-13T>A (n.70-13T>A)
c.857-13T>A
c.1543-13T>A (n.1543-13T>A)
n.841-13T>A
c.1795-13T>A (n.1795-13T>A)
c.1789-13T>A (n.1789-13T>A)
c.1777-13T>A (n.1777-13T>A)
c.1732-13T>A (n.1732-13T>A)
c.1729-13T>A (n.1729-13T>A)
c.1666-13T>A (n.1666-13T>A)
c.1528-13T>A (n.1528-13T>A)
c.1423-13T>A (n.1423-13T>A)
c.1753-13T>A (n.1753-13T>A)
c.1750-13T>A (n.1750-13T>A)
c.1687-13T>A (n.1687-13T>A)
c.1642-13T>A (n.1642-13T>A)
c.1438-13T>A (n.1438-13T>A)
c.1738-13T>A (n.1738-13T>A)
c.1489-13T>A (n.1489-13T>A)
n.3924A>T
n.779-13T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762261T>CCA2578367418CAST,ERAP1c.754-13T>C (n.754-13T>C)
c.1684-13T>C (n.1684-13T>C)
c.1462-13T>C (n.1462-13T>C)
c.1291-13T>C (n.1291-13T>C)
c.1576-13T>C (n.1576-13T>C)
c.1768-13T>C (n.1768-13T>C)
c.1834-13T>C (n.1834-13T>C)
c.215-13T>C
c.1736-13T>C
c.*1458-13T>C (n.*1458-13T>C)
c.551-13T>C
c.1447-13T>C (n.1447-13T>C)
c.1504-13T>C (n.1504-13T>C)
c.1723-13T>C (n.1723-13T>C)
n.378-13T>C
c.1378-13T>C (n.1378-13T>C)
c.*939A>G (n.*939A>G)
c.1519-13T>C (n.1519-13T>C)
c.1546-13T>C (n.1546-13T>C)
c.1585-13T>C (n.1585-13T>C)
n.1527-13T>C
c.1711-13T>C (n.1711-13T>C)
c.840-13T>C
c.812-13T>C
c.1369-13T>C (n.1369-13T>C)
c.730-13T>C (n.730-13T>C)
c.1480-13T>C (n.1480-13T>C)
c.70-13T>C (n.70-13T>C)
c.857-13T>C
c.1543-13T>C (n.1543-13T>C)
n.841-13T>C
c.1795-13T>C (n.1795-13T>C)
c.1789-13T>C (n.1789-13T>C)
c.1777-13T>C (n.1777-13T>C)
c.1732-13T>C (n.1732-13T>C)
c.1729-13T>C (n.1729-13T>C)
c.1666-13T>C (n.1666-13T>C)
c.1528-13T>C (n.1528-13T>C)
c.1423-13T>C (n.1423-13T>C)
c.1753-13T>C (n.1753-13T>C)
c.1750-13T>C (n.1750-13T>C)
c.1687-13T>C (n.1687-13T>C)
c.1642-13T>C (n.1642-13T>C)
c.1438-13T>C (n.1438-13T>C)
c.1738-13T>C (n.1738-13T>C)
c.1489-13T>C (n.1489-13T>C)
n.3924A>G
n.779-13T>C
5g.96762261T>GCA561303008CAST,ERAP1c.754-13T>G (n.754-13T>G)
c.1684-13T>G (n.1684-13T>G)
c.1462-13T>G (n.1462-13T>G)
c.1291-13T>G (n.1291-13T>G)
c.1576-13T>G (n.1576-13T>G)
c.1768-13T>G (n.1768-13T>G)
c.1834-13T>G (n.1834-13T>G)
c.215-13T>G
c.1736-13T>G
c.*1458-13T>G (n.*1458-13T>G)
c.551-13T>G
c.1447-13T>G (n.1447-13T>G)
c.1504-13T>G (n.1504-13T>G)
c.1723-13T>G (n.1723-13T>G)
n.378-13T>G
c.1378-13T>G (n.1378-13T>G)
c.*939A>C (n.*939A>C)
c.1519-13T>G (n.1519-13T>G)
c.1546-13T>G (n.1546-13T>G)
c.1585-13T>G (n.1585-13T>G)
n.1527-13T>G
c.1711-13T>G (n.1711-13T>G)
c.840-13T>G
c.812-13T>G
c.1369-13T>G (n.1369-13T>G)
c.730-13T>G (n.730-13T>G)
c.1480-13T>G (n.1480-13T>G)
c.70-13T>G (n.70-13T>G)
c.857-13T>G
c.1543-13T>G (n.1543-13T>G)
n.841-13T>G
c.1795-13T>G (n.1795-13T>G)
c.1789-13T>G (n.1789-13T>G)
c.1777-13T>G (n.1777-13T>G)
c.1732-13T>G (n.1732-13T>G)
c.1729-13T>G (n.1729-13T>G)
c.1666-13T>G (n.1666-13T>G)
c.1528-13T>G (n.1528-13T>G)
c.1423-13T>G (n.1423-13T>G)
c.1753-13T>G (n.1753-13T>G)
c.1750-13T>G (n.1750-13T>G)
c.1687-13T>G (n.1687-13T>G)
c.1642-13T>G (n.1642-13T>G)
c.1438-13T>G (n.1438-13T>G)
c.1738-13T>G (n.1738-13T>G)
c.1489-13T>G (n.1489-13T>G)
n.3924A>C
n.779-13T>G
 dbSNP gnomAD v2 gnomAD v4
5g.96762261T=CA1565569258CAST,ERAP1c.754-13T= (n.754-13T=)
c.1684-13T= (n.1684-13T=)
c.1462-13T= (n.1462-13T=)
c.1291-13T= (n.1291-13T=)
c.1576-13T= (n.1576-13T=)
c.1768-13T= (n.1768-13T=)
c.1834-13T= (n.1834-13T=)
c.215-13T=
c.1736-13T=
c.*1458-13T= (n.*1458-13T=)
c.551-13T=
c.1447-13T= (n.1447-13T=)
c.1504-13T= (n.1504-13T=)
c.1723-13T= (n.1723-13T=)
n.378-13T=
c.1378-13T= (n.1378-13T=)
c.*939A= (n.*939A=)
c.1519-13T= (n.1519-13T=)
c.1546-13T= (n.1546-13T=)
c.1585-13T= (n.1585-13T=)
n.1527-13T=
c.1711-13T= (n.1711-13T=)
c.840-13T=
c.812-13T=
c.1369-13T= (n.1369-13T=)
c.730-13T= (n.730-13T=)
c.1480-13T= (n.1480-13T=)
c.70-13T= (n.70-13T=)
c.857-13T=
c.1543-13T= (n.1543-13T=)
n.841-13T=
c.1795-13T= (n.1795-13T=)
c.1789-13T= (n.1789-13T=)
c.1777-13T= (n.1777-13T=)
c.1732-13T= (n.1732-13T=)
c.1729-13T= (n.1729-13T=)
c.1666-13T= (n.1666-13T=)
c.1528-13T= (n.1528-13T=)
c.1423-13T= (n.1423-13T=)
c.1753-13T= (n.1753-13T=)
c.1750-13T= (n.1750-13T=)
c.1687-13T= (n.1687-13T=)
c.1642-13T= (n.1642-13T=)
c.1438-13T= (n.1438-13T=)
c.1738-13T= (n.1738-13T=)
c.1489-13T= (n.1489-13T=)
n.3924A=
n.779-13T=
5g.96762262_96762268delCA2528351327CAST,ERAP1c.754-12_754-6del (n.754-12_754-6del)
c.1684-12_1684-6del (n.1684-12_1684-6del)
c.1462-12_1462-6del (n.1462-12_1462-6del)
c.1291-12_1291-6del (n.1291-12_1291-6del)
c.1576-12_1576-6del (n.1576-12_1576-6del)
c.1768-12_1768-6del (n.1768-12_1768-6del)
c.1834-12_1834-6del (n.1834-12_1834-6del)
c.215-12_215-6del
c.1736-12_1736-6del
c.*1458-12_*1458-6del (n.*1458-12_*1458-6del)
c.551-12_551-6del
c.1447-12_1447-6del (n.1447-12_1447-6del)
c.1504-12_1504-6del (n.1504-12_1504-6del)
c.1723-12_1723-6del (n.1723-12_1723-6del)
n.378-12_378-6del
c.1378-12_1378-6del (n.1378-12_1378-6del)
c.*933_*939del (n.*933_*939del)
c.1519-12_1519-6del (n.1519-12_1519-6del)
c.1546-12_1546-6del (n.1546-12_1546-6del)
c.1585-12_1585-6del (n.1585-12_1585-6del)
n.1527-12_1527-6del
c.1711-12_1711-6del (n.1711-12_1711-6del)
c.840-12_840-6del
c.812-12_812-6del
c.1369-12_1369-6del (n.1369-12_1369-6del)
c.730-12_730-6del (n.730-12_730-6del)
c.1480-12_1480-6del (n.1480-12_1480-6del)
c.70-12_70-6del (n.70-12_70-6del)
c.857-12_857-6del
c.1543-12_1543-6del (n.1543-12_1543-6del)
n.841-12_841-6del
c.1795-12_1795-6del (n.1795-12_1795-6del)
c.1789-12_1789-6del (n.1789-12_1789-6del)
c.1777-12_1777-6del (n.1777-12_1777-6del)
c.1732-12_1732-6del (n.1732-12_1732-6del)
c.1729-12_1729-6del (n.1729-12_1729-6del)
c.1666-12_1666-6del (n.1666-12_1666-6del)
c.1528-12_1528-6del (n.1528-12_1528-6del)
c.1423-12_1423-6del (n.1423-12_1423-6del)
c.1753-12_1753-6del (n.1753-12_1753-6del)
c.1750-12_1750-6del (n.1750-12_1750-6del)
c.1687-12_1687-6del (n.1687-12_1687-6del)
c.1642-12_1642-6del (n.1642-12_1642-6del)
c.1438-12_1438-6del (n.1438-12_1438-6del)
c.1738-12_1738-6del (n.1738-12_1738-6del)
c.1489-12_1489-6del (n.1489-12_1489-6del)
n.3918_3924del
n.779-12_779-6del
5g.96762263T>CCA2674677809CAST,ERAP1c.754-11T>C (n.754-11T>C)
c.1684-11T>C (n.1684-11T>C)
c.1462-11T>C (n.1462-11T>C)
c.1291-11T>C (n.1291-11T>C)
c.1576-11T>C (n.1576-11T>C)
c.1768-11T>C (n.1768-11T>C)
c.1834-11T>C (n.1834-11T>C)
c.215-11T>C
c.1736-11T>C
c.*1458-11T>C (n.*1458-11T>C)
c.551-11T>C
c.1447-11T>C (n.1447-11T>C)
c.1504-11T>C (n.1504-11T>C)
c.1723-11T>C (n.1723-11T>C)
n.378-11T>C
c.1378-11T>C (n.1378-11T>C)
c.*937A>G (n.*937A>G)
c.1519-11T>C (n.1519-11T>C)
c.1546-11T>C (n.1546-11T>C)
c.1585-11T>C (n.1585-11T>C)
n.1527-11T>C
c.1711-11T>C (n.1711-11T>C)
c.840-11T>C
c.812-11T>C
c.1369-11T>C (n.1369-11T>C)
c.730-11T>C (n.730-11T>C)
c.1480-11T>C (n.1480-11T>C)
c.70-11T>C (n.70-11T>C)
c.857-11T>C
c.1543-11T>C (n.1543-11T>C)
n.841-11T>C
c.1795-11T>C (n.1795-11T>C)
c.1789-11T>C (n.1789-11T>C)
c.1777-11T>C (n.1777-11T>C)
c.1732-11T>C (n.1732-11T>C)
c.1729-11T>C (n.1729-11T>C)
c.1666-11T>C (n.1666-11T>C)
c.1528-11T>C (n.1528-11T>C)
c.1423-11T>C (n.1423-11T>C)
c.1753-11T>C (n.1753-11T>C)
c.1750-11T>C (n.1750-11T>C)
c.1687-11T>C (n.1687-11T>C)
c.1642-11T>C (n.1642-11T>C)
c.1438-11T>C (n.1438-11T>C)
c.1738-11T>C (n.1738-11T>C)
c.1489-11T>C (n.1489-11T>C)
n.3922A>G
n.779-11T>C
 gnomAD v4
5g.96762265C>ACA2674677810CAST,ERAP1c.754-9C>A (n.754-9C>A)
c.1684-9C>A (n.1684-9C>A)
c.1462-9C>A (n.1462-9C>A)
c.1291-9C>A (n.1291-9C>A)
c.1576-9C>A (n.1576-9C>A)
c.1768-9C>A (n.1768-9C>A)
c.1834-9C>A (n.1834-9C>A)
c.215-9C>A
c.1736-9C>A
c.*1458-9C>A (n.*1458-9C>A)
c.551-9C>A
c.1447-9C>A (n.1447-9C>A)
c.1504-9C>A (n.1504-9C>A)
c.1723-9C>A (n.1723-9C>A)
n.378-9C>A
c.1378-9C>A (n.1378-9C>A)
c.*935G>T (n.*935G>T)
c.1519-9C>A (n.1519-9C>A)
c.1546-9C>A (n.1546-9C>A)
c.1585-9C>A (n.1585-9C>A)
n.1527-9C>A
c.1711-9C>A (n.1711-9C>A)
c.840-9C>A
c.812-9C>A
c.1369-9C>A (n.1369-9C>A)
c.730-9C>A (n.730-9C>A)
c.1480-9C>A (n.1480-9C>A)
c.70-9C>A (n.70-9C>A)
c.857-9C>A
c.1543-9C>A (n.1543-9C>A)
n.841-9C>A
c.1795-9C>A (n.1795-9C>A)
c.1789-9C>A (n.1789-9C>A)
c.1777-9C>A (n.1777-9C>A)
c.1732-9C>A (n.1732-9C>A)
c.1729-9C>A (n.1729-9C>A)
c.1666-9C>A (n.1666-9C>A)
c.1528-9C>A (n.1528-9C>A)
c.1423-9C>A (n.1423-9C>A)
c.1753-9C>A (n.1753-9C>A)
c.1750-9C>A (n.1750-9C>A)
c.1687-9C>A (n.1687-9C>A)
c.1642-9C>A (n.1642-9C>A)
c.1438-9C>A (n.1438-9C>A)
c.1738-9C>A (n.1738-9C>A)
c.1489-9C>A (n.1489-9C>A)
n.3920G>T
n.779-9C>A
 gnomAD v4
5g.96762265C>GCA2767562493CAST,ERAP1c.754-9C>G (n.754-9C>G)
c.1684-9C>G (n.1684-9C>G)
c.1462-9C>G (n.1462-9C>G)
c.1291-9C>G (n.1291-9C>G)
c.1576-9C>G (n.1576-9C>G)
c.1768-9C>G (n.1768-9C>G)
c.1834-9C>G (n.1834-9C>G)
c.215-9C>G
c.1736-9C>G
c.*1458-9C>G (n.*1458-9C>G)
c.551-9C>G
c.1447-9C>G (n.1447-9C>G)
c.1504-9C>G (n.1504-9C>G)
c.1723-9C>G (n.1723-9C>G)
n.378-9C>G
c.1378-9C>G (n.1378-9C>G)
c.*935G>C (n.*935G>C)
c.1519-9C>G (n.1519-9C>G)
c.1546-9C>G (n.1546-9C>G)
c.1585-9C>G (n.1585-9C>G)
n.1527-9C>G
c.1711-9C>G (n.1711-9C>G)
c.840-9C>G
c.812-9C>G
c.1369-9C>G (n.1369-9C>G)
c.730-9C>G (n.730-9C>G)
c.1480-9C>G (n.1480-9C>G)
c.70-9C>G (n.70-9C>G)
c.857-9C>G
c.1543-9C>G (n.1543-9C>G)
n.841-9C>G
c.1795-9C>G (n.1795-9C>G)
c.1789-9C>G (n.1789-9C>G)
c.1777-9C>G (n.1777-9C>G)
c.1732-9C>G (n.1732-9C>G)
c.1729-9C>G (n.1729-9C>G)
c.1666-9C>G (n.1666-9C>G)
c.1528-9C>G (n.1528-9C>G)
c.1423-9C>G (n.1423-9C>G)
c.1753-9C>G (n.1753-9C>G)
c.1750-9C>G (n.1750-9C>G)
c.1687-9C>G (n.1687-9C>G)
c.1642-9C>G (n.1642-9C>G)
c.1438-9C>G (n.1438-9C>G)
c.1738-9C>G (n.1738-9C>G)
c.1489-9C>G (n.1489-9C>G)
n.3920G>C
n.779-9C>G
5g.96762266A=CA1565569259CAST,ERAP1c.754-8A= (n.754-8A=)
c.1684-8A= (n.1684-8A=)
c.1462-8A= (n.1462-8A=)
c.1291-8A= (n.1291-8A=)
c.1576-8A= (n.1576-8A=)
c.1768-8A= (n.1768-8A=)
c.1834-8A= (n.1834-8A=)
c.215-8A=
c.1736-8A=
c.*1458-8A= (n.*1458-8A=)
c.551-8A=
c.1447-8A= (n.1447-8A=)
c.1504-8A= (n.1504-8A=)
c.1723-8A= (n.1723-8A=)
n.378-8A=
c.1378-8A= (n.1378-8A=)
c.*934T= (n.*934T=)
c.1519-8A= (n.1519-8A=)
c.1546-8A= (n.1546-8A=)
c.1585-8A= (n.1585-8A=)
n.1527-8A=
c.1711-8A= (n.1711-8A=)
c.840-8A=
c.812-8A=
c.1369-8A= (n.1369-8A=)
c.730-8A= (n.730-8A=)
c.1480-8A= (n.1480-8A=)
c.70-8A= (n.70-8A=)
c.857-8A=
c.1543-8A= (n.1543-8A=)
n.841-8A=
c.1795-8A= (n.1795-8A=)
c.1789-8A= (n.1789-8A=)
c.1777-8A= (n.1777-8A=)
c.1732-8A= (n.1732-8A=)
c.1729-8A= (n.1729-8A=)
c.1666-8A= (n.1666-8A=)
c.1528-8A= (n.1528-8A=)
c.1423-8A= (n.1423-8A=)
c.1753-8A= (n.1753-8A=)
c.1750-8A= (n.1750-8A=)
c.1687-8A= (n.1687-8A=)
c.1642-8A= (n.1642-8A=)
c.1438-8A= (n.1438-8A=)
c.1738-8A= (n.1738-8A=)
c.1489-8A= (n.1489-8A=)
n.3919T=
n.779-8A=
5g.96762266A>GCA815911266CAST,ERAP1c.754-8A>G (n.754-8A>G)
c.1684-8A>G (n.1684-8A>G)
c.1462-8A>G (n.1462-8A>G)
c.1291-8A>G (n.1291-8A>G)
c.1576-8A>G (n.1576-8A>G)
c.1768-8A>G (n.1768-8A>G)
c.1834-8A>G (n.1834-8A>G)
c.215-8A>G
c.1736-8A>G
c.*1458-8A>G (n.*1458-8A>G)
c.551-8A>G
c.1447-8A>G (n.1447-8A>G)
c.1504-8A>G (n.1504-8A>G)
c.1723-8A>G (n.1723-8A>G)
n.378-8A>G
c.1378-8A>G (n.1378-8A>G)
c.*934T>C (n.*934T>C)
c.1519-8A>G (n.1519-8A>G)
c.1546-8A>G (n.1546-8A>G)
c.1585-8A>G (n.1585-8A>G)
n.1527-8A>G
c.1711-8A>G (n.1711-8A>G)
c.840-8A>G
c.812-8A>G
c.1369-8A>G (n.1369-8A>G)
c.730-8A>G (n.730-8A>G)
c.1480-8A>G (n.1480-8A>G)
c.70-8A>G (n.70-8A>G)
c.857-8A>G
c.1543-8A>G (n.1543-8A>G)
n.841-8A>G
c.1795-8A>G (n.1795-8A>G)
c.1789-8A>G (n.1789-8A>G)
c.1777-8A>G (n.1777-8A>G)
c.1732-8A>G (n.1732-8A>G)
c.1729-8A>G (n.1729-8A>G)
c.1666-8A>G (n.1666-8A>G)
c.1528-8A>G (n.1528-8A>G)
c.1423-8A>G (n.1423-8A>G)
c.1753-8A>G (n.1753-8A>G)
c.1750-8A>G (n.1750-8A>G)
c.1687-8A>G (n.1687-8A>G)
c.1642-8A>G (n.1642-8A>G)
c.1438-8A>G (n.1438-8A>G)
c.1738-8A>G (n.1738-8A>G)
c.1489-8A>G (n.1489-8A>G)
n.3919T>C
n.779-8A>G
 dbSNP gnomAD v3 gnomAD v4
5g.96762267A=CA1565569260CAST,ERAP1c.754-7A= (n.754-7A=)
c.1684-7A= (n.1684-7A=)
c.1462-7A= (n.1462-7A=)
c.1291-7A= (n.1291-7A=)
c.1576-7A= (n.1576-7A=)
c.1768-7A= (n.1768-7A=)
c.1834-7A= (n.1834-7A=)
c.215-7A=
c.1736-7A=
c.*1458-7A= (n.*1458-7A=)
c.551-7A=
c.1447-7A= (n.1447-7A=)
c.1504-7A= (n.1504-7A=)
c.1723-7A= (n.1723-7A=)
n.378-7A=
c.1378-7A= (n.1378-7A=)
c.*933T= (n.*933T=)
c.1519-7A= (n.1519-7A=)
c.1546-7A= (n.1546-7A=)
c.1585-7A= (n.1585-7A=)
n.1527-7A=
c.1711-7A= (n.1711-7A=)
c.840-7A=
c.812-7A=
c.1369-7A= (n.1369-7A=)
c.730-7A= (n.730-7A=)
c.1480-7A= (n.1480-7A=)
c.70-7A= (n.70-7A=)
c.857-7A=
c.1543-7A= (n.1543-7A=)
n.841-7A=
c.1795-7A= (n.1795-7A=)
c.1789-7A= (n.1789-7A=)
c.1777-7A= (n.1777-7A=)
c.1732-7A= (n.1732-7A=)
c.1729-7A= (n.1729-7A=)
c.1666-7A= (n.1666-7A=)
c.1528-7A= (n.1528-7A=)
c.1423-7A= (n.1423-7A=)
c.1753-7A= (n.1753-7A=)
c.1750-7A= (n.1750-7A=)
c.1687-7A= (n.1687-7A=)
c.1642-7A= (n.1642-7A=)
c.1438-7A= (n.1438-7A=)
c.1738-7A= (n.1738-7A=)
c.1489-7A= (n.1489-7A=)
n.3918T=
n.779-7A=
5g.96762267A>GCA3351494CAST,ERAP1c.754-7A>G (n.754-7A>G)
c.1684-7A>G (n.1684-7A>G)
c.1462-7A>G (n.1462-7A>G)
c.1291-7A>G (n.1291-7A>G)
c.1576-7A>G (n.1576-7A>G)
c.1768-7A>G (n.1768-7A>G)
c.1834-7A>G (n.1834-7A>G)
c.215-7A>G
c.1736-7A>G
c.*1458-7A>G (n.*1458-7A>G)
c.551-7A>G
c.1447-7A>G (n.1447-7A>G)
c.1504-7A>G (n.1504-7A>G)
c.1723-7A>G (n.1723-7A>G)
n.378-7A>G
c.1378-7A>G (n.1378-7A>G)
c.*933T>C (n.*933T>C)
c.1519-7A>G (n.1519-7A>G)
c.1546-7A>G (n.1546-7A>G)
c.1585-7A>G (n.1585-7A>G)
n.1527-7A>G
c.1711-7A>G (n.1711-7A>G)
c.840-7A>G
c.812-7A>G
c.1369-7A>G (n.1369-7A>G)
c.730-7A>G (n.730-7A>G)
c.1480-7A>G (n.1480-7A>G)
c.70-7A>G (n.70-7A>G)
c.857-7A>G
c.1543-7A>G (n.1543-7A>G)
n.841-7A>G
c.1795-7A>G (n.1795-7A>G)
c.1789-7A>G (n.1789-7A>G)
c.1777-7A>G (n.1777-7A>G)
c.1732-7A>G (n.1732-7A>G)
c.1729-7A>G (n.1729-7A>G)
c.1666-7A>G (n.1666-7A>G)
c.1528-7A>G (n.1528-7A>G)
c.1423-7A>G (n.1423-7A>G)
c.1753-7A>G (n.1753-7A>G)
c.1750-7A>G (n.1750-7A>G)
c.1687-7A>G (n.1687-7A>G)
c.1642-7A>G (n.1642-7A>G)
c.1438-7A>G (n.1438-7A>G)
c.1738-7A>G (n.1738-7A>G)
c.1489-7A>G (n.1489-7A>G)
n.3918T>C
n.779-7A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762268T>ACA2674677811CAST,ERAP1c.754-6T>A (n.754-6T>A)
c.1684-6T>A (n.1684-6T>A)
c.1462-6T>A (n.1462-6T>A)
c.1291-6T>A (n.1291-6T>A)
c.1576-6T>A (n.1576-6T>A)
c.1768-6T>A (n.1768-6T>A)
c.1834-6T>A (n.1834-6T>A)
c.215-6T>A
c.1736-6T>A
c.*1458-6T>A (n.*1458-6T>A)
c.551-6T>A
c.1447-6T>A (n.1447-6T>A)
c.1504-6T>A (n.1504-6T>A)
c.1723-6T>A (n.1723-6T>A)
n.378-6T>A
c.1378-6T>A (n.1378-6T>A)
c.*932A>T (n.*932A>T)
c.1519-6T>A (n.1519-6T>A)
c.1546-6T>A (n.1546-6T>A)
c.1585-6T>A (n.1585-6T>A)
n.1527-6T>A
c.1711-6T>A (n.1711-6T>A)
c.840-6T>A
c.812-6T>A
c.1369-6T>A (n.1369-6T>A)
c.730-6T>A (n.730-6T>A)
c.1480-6T>A (n.1480-6T>A)
c.70-6T>A (n.70-6T>A)
c.857-6T>A
c.1543-6T>A (n.1543-6T>A)
n.841-6T>A
c.1795-6T>A (n.1795-6T>A)
c.1789-6T>A (n.1789-6T>A)
c.1777-6T>A (n.1777-6T>A)
c.1732-6T>A (n.1732-6T>A)
c.1729-6T>A (n.1729-6T>A)
c.1666-6T>A (n.1666-6T>A)
c.1528-6T>A (n.1528-6T>A)
c.1423-6T>A (n.1423-6T>A)
c.1753-6T>A (n.1753-6T>A)
c.1750-6T>A (n.1750-6T>A)
c.1687-6T>A (n.1687-6T>A)
c.1642-6T>A (n.1642-6T>A)
c.1438-6T>A (n.1438-6T>A)
c.1738-6T>A (n.1738-6T>A)
c.1489-6T>A (n.1489-6T>A)
n.3917A>T
n.779-6T>A
 gnomAD v4
5g.96762269A>TCA2674677813CAST,ERAP1c.754-5A>T (n.754-5A>T)
c.1684-5A>T (n.1684-5A>T)
c.1462-5A>T (n.1462-5A>T)
c.1291-5A>T (n.1291-5A>T)
c.1576-5A>T (n.1576-5A>T)
c.1768-5A>T (n.1768-5A>T)
c.1834-5A>T (n.1834-5A>T)
c.215-5A>T
c.1736-5A>T
c.*1458-5A>T (n.*1458-5A>T)
c.551-5A>T
c.1447-5A>T (n.1447-5A>T)
c.1504-5A>T (n.1504-5A>T)
c.1723-5A>T (n.1723-5A>T)
n.378-5A>T
c.1378-5A>T (n.1378-5A>T)
c.*931T>A (n.*931T>A)
c.1519-5A>T (n.1519-5A>T)
c.1546-5A>T (n.1546-5A>T)
c.1585-5A>T (n.1585-5A>T)
n.1527-5A>T
c.1711-5A>T (n.1711-5A>T)
c.840-5A>T
c.812-5A>T
c.1369-5A>T (n.1369-5A>T)
c.730-5A>T (n.730-5A>T)
c.1480-5A>T (n.1480-5A>T)
c.70-5A>T (n.70-5A>T)
c.857-5A>T
c.1543-5A>T (n.1543-5A>T)
n.841-5A>T
c.1795-5A>T (n.1795-5A>T)
c.1789-5A>T (n.1789-5A>T)
c.1777-5A>T (n.1777-5A>T)
c.1732-5A>T (n.1732-5A>T)
c.1729-5A>T (n.1729-5A>T)
c.1666-5A>T (n.1666-5A>T)
c.1528-5A>T (n.1528-5A>T)
c.1423-5A>T (n.1423-5A>T)
c.1753-5A>T (n.1753-5A>T)
c.1750-5A>T (n.1750-5A>T)
c.1687-5A>T (n.1687-5A>T)
c.1642-5A>T (n.1642-5A>T)
c.1438-5A>T (n.1438-5A>T)
c.1738-5A>T (n.1738-5A>T)
c.1489-5A>T (n.1489-5A>T)
n.3916T>A
n.779-5A>T
 gnomAD v4
5g.96762272delCA2674677812CAST,ERAP1c.754-2del (n.754-2del)
c.1684-2del (n.1684-2del)
c.1462-2del (n.1462-2del)
c.1291-2del (n.1291-2del)
c.1576-2del (n.1576-2del)
c.1768-2del (n.1768-2del)
c.1834-2del (n.1834-2del)
c.215-2del
c.1736-2del
c.*1458-2del (n.*1458-2del)
c.551-2del
c.1447-2del (n.1447-2del)
c.1504-2del (n.1504-2del)
c.1723-2del (n.1723-2del)
n.378-2del
c.1378-2del (n.1378-2del)
c.*931del (n.*931del)
c.1519-2del (n.1519-2del)
c.1546-2del (n.1546-2del)
c.1585-2del (n.1585-2del)
n.1527-2del
c.1711-2del (n.1711-2del)
c.840-2del
c.812-2del
c.1369-2del (n.1369-2del)
c.730-2del (n.730-2del)
c.1480-2del (n.1480-2del)
c.70-2del (n.70-2del)
c.857-2del
c.1543-2del (n.1543-2del)
n.841-2del
c.1795-2del (n.1795-2del)
c.1789-2del (n.1789-2del)
c.1777-2del (n.1777-2del)
c.1732-2del (n.1732-2del)
c.1729-2del (n.1729-2del)
c.1666-2del (n.1666-2del)
c.1528-2del (n.1528-2del)
c.1423-2del (n.1423-2del)
c.1753-2del (n.1753-2del)
c.1750-2del (n.1750-2del)
c.1687-2del (n.1687-2del)
c.1642-2del (n.1642-2del)
c.1438-2del (n.1438-2del)
c.1738-2del (n.1738-2del)
c.1489-2del (n.1489-2del)
n.3916del
n.779-2del
 gnomAD v4
5g.96762270A=CA1565569261CAST,ERAP1c.754-4A= (n.754-4A=)
c.1684-4A= (n.1684-4A=)
c.1462-4A= (n.1462-4A=)
c.1291-4A= (n.1291-4A=)
c.1576-4A= (n.1576-4A=)
c.1768-4A= (n.1768-4A=)
c.1834-4A= (n.1834-4A=)
c.215-4A=
c.1736-4A=
c.*1458-4A= (n.*1458-4A=)
c.551-4A=
c.1447-4A= (n.1447-4A=)
c.1504-4A= (n.1504-4A=)
c.1723-4A= (n.1723-4A=)
n.378-4A=
c.1378-4A= (n.1378-4A=)
c.*930T= (n.*930T=)
c.1519-4A= (n.1519-4A=)
c.1546-4A= (n.1546-4A=)
c.1585-4A= (n.1585-4A=)
n.1527-4A=
c.1711-4A= (n.1711-4A=)
c.840-4A=
c.812-4A=
c.1369-4A= (n.1369-4A=)
c.730-4A= (n.730-4A=)
c.1480-4A= (n.1480-4A=)
c.70-4A= (n.70-4A=)
c.857-4A=
c.1543-4A= (n.1543-4A=)
n.841-4A=
c.1795-4A= (n.1795-4A=)
c.1789-4A= (n.1789-4A=)
c.1777-4A= (n.1777-4A=)
c.1732-4A= (n.1732-4A=)
c.1729-4A= (n.1729-4A=)
c.1666-4A= (n.1666-4A=)
c.1528-4A= (n.1528-4A=)
c.1423-4A= (n.1423-4A=)
c.1753-4A= (n.1753-4A=)
c.1750-4A= (n.1750-4A=)
c.1687-4A= (n.1687-4A=)
c.1642-4A= (n.1642-4A=)
c.1438-4A= (n.1438-4A=)
c.1738-4A= (n.1738-4A=)
c.1489-4A= (n.1489-4A=)
n.3915T=
n.779-4A=
5g.96762270A>GCA561303009CAST,ERAP1c.754-4A>G (n.754-4A>G)
c.1684-4A>G (n.1684-4A>G)
c.1462-4A>G (n.1462-4A>G)
c.1291-4A>G (n.1291-4A>G)
c.1576-4A>G (n.1576-4A>G)
c.1768-4A>G (n.1768-4A>G)
c.1834-4A>G (n.1834-4A>G)
c.215-4A>G
c.1736-4A>G
c.*1458-4A>G (n.*1458-4A>G)
c.551-4A>G
c.1447-4A>G (n.1447-4A>G)
c.1504-4A>G (n.1504-4A>G)
c.1723-4A>G (n.1723-4A>G)
n.378-4A>G
c.1378-4A>G (n.1378-4A>G)
c.*930T>C (n.*930T>C)
c.1519-4A>G (n.1519-4A>G)
c.1546-4A>G (n.1546-4A>G)
c.1585-4A>G (n.1585-4A>G)
n.1527-4A>G
c.1711-4A>G (n.1711-4A>G)
c.840-4A>G
c.812-4A>G
c.1369-4A>G (n.1369-4A>G)
c.730-4A>G (n.730-4A>G)
c.1480-4A>G (n.1480-4A>G)
c.70-4A>G (n.70-4A>G)
c.857-4A>G
c.1543-4A>G (n.1543-4A>G)
n.841-4A>G
c.1795-4A>G (n.1795-4A>G)
c.1789-4A>G (n.1789-4A>G)
c.1777-4A>G (n.1777-4A>G)
c.1732-4A>G (n.1732-4A>G)
c.1729-4A>G (n.1729-4A>G)
c.1666-4A>G (n.1666-4A>G)
c.1528-4A>G (n.1528-4A>G)
c.1423-4A>G (n.1423-4A>G)
c.1753-4A>G (n.1753-4A>G)
c.1750-4A>G (n.1750-4A>G)
c.1687-4A>G (n.1687-4A>G)
c.1642-4A>G (n.1642-4A>G)
c.1438-4A>G (n.1438-4A>G)
c.1738-4A>G (n.1738-4A>G)
c.1489-4A>G (n.1489-4A>G)
n.3915T>C
n.779-4A>G
 dbSNP gnomAD v2 gnomAD v4
5g.96762271A>GCA2578367421CAST,ERAP1c.754-3A>G (n.754-3A>G)
c.1684-3A>G (n.1684-3A>G)
c.1462-3A>G (n.1462-3A>G)
c.1291-3A>G (n.1291-3A>G)
c.1576-3A>G (n.1576-3A>G)
c.1768-3A>G (n.1768-3A>G)
c.1834-3A>G (n.1834-3A>G)
c.215-3A>G
c.1736-3A>G
c.*1458-3A>G (n.*1458-3A>G)
c.551-3A>G
c.1447-3A>G (n.1447-3A>G)
c.1504-3A>G (n.1504-3A>G)
c.1723-3A>G (n.1723-3A>G)
n.378-3A>G
c.1378-3A>G (n.1378-3A>G)
c.*929T>C (n.*929T>C)
c.1519-3A>G (n.1519-3A>G)
c.1546-3A>G (n.1546-3A>G)
c.1585-3A>G (n.1585-3A>G)
n.1527-3A>G
c.1711-3A>G (n.1711-3A>G)
c.840-3A>G
c.812-3A>G
c.1369-3A>G (n.1369-3A>G)
c.730-3A>G (n.730-3A>G)
c.1480-3A>G (n.1480-3A>G)
c.70-3A>G (n.70-3A>G)
c.857-3A>G
c.1543-3A>G (n.1543-3A>G)
n.841-3A>G
c.1795-3A>G (n.1795-3A>G)
c.1789-3A>G (n.1789-3A>G)
c.1777-3A>G (n.1777-3A>G)
c.1732-3A>G (n.1732-3A>G)
c.1729-3A>G (n.1729-3A>G)
c.1666-3A>G (n.1666-3A>G)
c.1528-3A>G (n.1528-3A>G)
c.1423-3A>G (n.1423-3A>G)
c.1753-3A>G (n.1753-3A>G)
c.1750-3A>G (n.1750-3A>G)
c.1687-3A>G (n.1687-3A>G)
c.1642-3A>G (n.1642-3A>G)
c.1438-3A>G (n.1438-3A>G)
c.1738-3A>G (n.1738-3A>G)
c.1489-3A>G (n.1489-3A>G)
n.3914T>C
n.779-3A>G
 gnomAD v4
5g.96762272A=CA1565569262CAST,ERAP1c.754-2A= (n.754-2A=)
c.1684-2A= (n.1684-2A=)
c.1462-2A= (n.1462-2A=)
c.1291-2A= (n.1291-2A=)
c.1576-2A= (n.1576-2A=)
c.1768-2A= (n.1768-2A=)
c.1834-2A= (n.1834-2A=)
c.215-2A=
c.1736-2A=
c.*1458-2A= (n.*1458-2A=)
c.551-2A=
c.1447-2A= (n.1447-2A=)
c.1504-2A= (n.1504-2A=)
c.1723-2A= (n.1723-2A=)
n.378-2A=
c.1378-2A= (n.1378-2A=)
c.*928T= (n.*928T=)
c.1519-2A= (n.1519-2A=)
c.1546-2A= (n.1546-2A=)
c.1585-2A= (n.1585-2A=)
n.1527-2A=
c.1711-2A= (n.1711-2A=)
c.840-2A=
c.812-2A=
c.1369-2A= (n.1369-2A=)
c.730-2A= (n.730-2A=)
c.1480-2A= (n.1480-2A=)
c.70-2A= (n.70-2A=)
c.857-2A=
c.1543-2A= (n.1543-2A=)
n.841-2A=
c.1795-2A= (n.1795-2A=)
c.1789-2A= (n.1789-2A=)
c.1777-2A= (n.1777-2A=)
c.1732-2A= (n.1732-2A=)
c.1729-2A= (n.1729-2A=)
c.1666-2A= (n.1666-2A=)
c.1528-2A= (n.1528-2A=)
c.1423-2A= (n.1423-2A=)
c.1753-2A= (n.1753-2A=)
c.1750-2A= (n.1750-2A=)
c.1687-2A= (n.1687-2A=)
c.1642-2A= (n.1642-2A=)
c.1438-2A= (n.1438-2A=)
c.1738-2A= (n.1738-2A=)
c.1489-2A= (n.1489-2A=)
n.3913T=
n.779-2A=
5g.96762272A>CCA360484855CAST,ERAP1c.754-2A>C (n.754-2A>C)
c.1684-2A>C (n.1684-2A>C)
c.1462-2A>C (n.1462-2A>C)
c.1291-2A>C (n.1291-2A>C)
c.1576-2A>C (n.1576-2A>C)
c.1768-2A>C (n.1768-2A>C)
c.1834-2A>C (n.1834-2A>C)
c.215-2A>C
c.1736-2A>C
c.*1458-2A>C (n.*1458-2A>C)
c.551-2A>C
c.1447-2A>C (n.1447-2A>C)
c.1504-2A>C (n.1504-2A>C)
c.1723-2A>C (n.1723-2A>C)
n.378-2A>C
c.1378-2A>C (n.1378-2A>C)
c.*928T>G (n.*928T>G)
c.1519-2A>C (n.1519-2A>C)
c.1546-2A>C (n.1546-2A>C)
c.1585-2A>C (n.1585-2A>C)
n.1527-2A>C
c.1711-2A>C (n.1711-2A>C)
c.840-2A>C
c.812-2A>C
c.1369-2A>C (n.1369-2A>C)
c.730-2A>C (n.730-2A>C)
c.1480-2A>C (n.1480-2A>C)
c.70-2A>C (n.70-2A>C)
c.857-2A>C
c.1543-2A>C (n.1543-2A>C)
n.841-2A>C
c.1795-2A>C (n.1795-2A>C)
c.1789-2A>C (n.1789-2A>C)
c.1777-2A>C (n.1777-2A>C)
c.1732-2A>C (n.1732-2A>C)
c.1729-2A>C (n.1729-2A>C)
c.1666-2A>C (n.1666-2A>C)
c.1528-2A>C (n.1528-2A>C)
c.1423-2A>C (n.1423-2A>C)
c.1753-2A>C (n.1753-2A>C)
c.1750-2A>C (n.1750-2A>C)
c.1687-2A>C (n.1687-2A>C)
c.1642-2A>C (n.1642-2A>C)
c.1438-2A>C (n.1438-2A>C)
c.1738-2A>C (n.1738-2A>C)
c.1489-2A>C (n.1489-2A>C)
n.3913T>G
n.779-2A>C
5g.96762272A>GCA3351495CAST,ERAP1c.754-2A>G (n.754-2A>G)
c.1684-2A>G (n.1684-2A>G)
c.1462-2A>G (n.1462-2A>G)
c.1291-2A>G (n.1291-2A>G)
c.1576-2A>G (n.1576-2A>G)
c.1768-2A>G (n.1768-2A>G)
c.1834-2A>G (n.1834-2A>G)
c.215-2A>G
c.1736-2A>G
c.*1458-2A>G (n.*1458-2A>G)
c.551-2A>G
c.1447-2A>G (n.1447-2A>G)
c.1504-2A>G (n.1504-2A>G)
c.1723-2A>G (n.1723-2A>G)
n.378-2A>G
c.1378-2A>G (n.1378-2A>G)
c.*928T>C (n.*928T>C)
c.1519-2A>G (n.1519-2A>G)
c.1546-2A>G (n.1546-2A>G)
c.1585-2A>G (n.1585-2A>G)
n.1527-2A>G
c.1711-2A>G (n.1711-2A>G)
c.840-2A>G
c.812-2A>G
c.1369-2A>G (n.1369-2A>G)
c.730-2A>G (n.730-2A>G)
c.1480-2A>G (n.1480-2A>G)
c.70-2A>G (n.70-2A>G)
c.857-2A>G
c.1543-2A>G (n.1543-2A>G)
n.841-2A>G
c.1795-2A>G (n.1795-2A>G)
c.1789-2A>G (n.1789-2A>G)
c.1777-2A>G (n.1777-2A>G)
c.1732-2A>G (n.1732-2A>G)
c.1729-2A>G (n.1729-2A>G)
c.1666-2A>G (n.1666-2A>G)
c.1528-2A>G (n.1528-2A>G)
c.1423-2A>G (n.1423-2A>G)
c.1753-2A>G (n.1753-2A>G)
c.1750-2A>G (n.1750-2A>G)
c.1687-2A>G (n.1687-2A>G)
c.1642-2A>G (n.1642-2A>G)
c.1438-2A>G (n.1438-2A>G)
c.1738-2A>G (n.1738-2A>G)
c.1489-2A>G (n.1489-2A>G)
n.3913T>C
n.779-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762272A>TCA360484854CAST,ERAP1c.754-2A>T (n.754-2A>T)
c.1684-2A>T (n.1684-2A>T)
c.1462-2A>T (n.1462-2A>T)
c.1291-2A>T (n.1291-2A>T)
c.1576-2A>T (n.1576-2A>T)
c.1768-2A>T (n.1768-2A>T)
c.1834-2A>T (n.1834-2A>T)
c.215-2A>T
c.1736-2A>T
c.*1458-2A>T (n.*1458-2A>T)
c.551-2A>T
c.1447-2A>T (n.1447-2A>T)
c.1504-2A>T (n.1504-2A>T)
c.1723-2A>T (n.1723-2A>T)
n.378-2A>T
c.1378-2A>T (n.1378-2A>T)
c.*928T>A (n.*928T>A)
c.1519-2A>T (n.1519-2A>T)
c.1546-2A>T (n.1546-2A>T)
c.1585-2A>T (n.1585-2A>T)
n.1527-2A>T
c.1711-2A>T (n.1711-2A>T)
c.840-2A>T
c.812-2A>T
c.1369-2A>T (n.1369-2A>T)
c.730-2A>T (n.730-2A>T)
c.1480-2A>T (n.1480-2A>T)
c.70-2A>T (n.70-2A>T)
c.857-2A>T
c.1543-2A>T (n.1543-2A>T)
n.841-2A>T
c.1795-2A>T (n.1795-2A>T)
c.1789-2A>T (n.1789-2A>T)
c.1777-2A>T (n.1777-2A>T)
c.1732-2A>T (n.1732-2A>T)
c.1729-2A>T (n.1729-2A>T)
c.1666-2A>T (n.1666-2A>T)
c.1528-2A>T (n.1528-2A>T)
c.1423-2A>T (n.1423-2A>T)
c.1753-2A>T (n.1753-2A>T)
c.1750-2A>T (n.1750-2A>T)
c.1687-2A>T (n.1687-2A>T)
c.1642-2A>T (n.1642-2A>T)
c.1438-2A>T (n.1438-2A>T)
c.1738-2A>T (n.1738-2A>T)
c.1489-2A>T (n.1489-2A>T)
n.3913T>A
n.779-2A>T
5g.96762273G>ACA360484858CAST,ERAP1c.754-1G>A (n.754-1G>A)
c.1684-1G>A (n.1684-1G>A)
c.1462-1G>A (n.1462-1G>A)
c.1291-1G>A (n.1291-1G>A)
c.1576-1G>A (n.1576-1G>A)
c.1768-1G>A (n.1768-1G>A)
c.1834-1G>A (n.1834-1G>A)
c.215-1G>A
c.1736-1G>A
c.*1458-1G>A (n.*1458-1G>A)
c.551-1G>A
c.1447-1G>A (n.1447-1G>A)
c.1504-1G>A (n.1504-1G>A)
c.1723-1G>A (n.1723-1G>A)
n.378-1G>A
c.1378-1G>A (n.1378-1G>A)
c.*927C>T (n.*927C>T)
c.1519-1G>A (n.1519-1G>A)
c.1546-1G>A (n.1546-1G>A)
c.1585-1G>A (n.1585-1G>A)
n.1527-1G>A
c.1711-1G>A (n.1711-1G>A)
c.840-1G>A
c.812-1G>A
c.1369-1G>A (n.1369-1G>A)
c.730-1G>A (n.730-1G>A)
c.1480-1G>A (n.1480-1G>A)
c.70-1G>A (n.70-1G>A)
c.857-1G>A
c.1543-1G>A (n.1543-1G>A)
n.841-1G>A
c.1795-1G>A (n.1795-1G>A)
c.1789-1G>A (n.1789-1G>A)
c.1777-1G>A (n.1777-1G>A)
c.1732-1G>A (n.1732-1G>A)
c.1729-1G>A (n.1729-1G>A)
c.1666-1G>A (n.1666-1G>A)
c.1528-1G>A (n.1528-1G>A)
c.1423-1G>A (n.1423-1G>A)
c.1753-1G>A (n.1753-1G>A)
c.1750-1G>A (n.1750-1G>A)
c.1687-1G>A (n.1687-1G>A)
c.1642-1G>A (n.1642-1G>A)
c.1438-1G>A (n.1438-1G>A)
c.1738-1G>A (n.1738-1G>A)
c.1489-1G>A (n.1489-1G>A)
n.3912C>T
n.779-1G>A
5g.96762273G>CCA360484856CAST,ERAP1c.754-1G>C (n.754-1G>C)
c.1684-1G>C (n.1684-1G>C)
c.1462-1G>C (n.1462-1G>C)
c.1291-1G>C (n.1291-1G>C)
c.1576-1G>C (n.1576-1G>C)
c.1768-1G>C (n.1768-1G>C)
c.1834-1G>C (n.1834-1G>C)
c.215-1G>C
c.1736-1G>C
c.*1458-1G>C (n.*1458-1G>C)
c.551-1G>C
c.1447-1G>C (n.1447-1G>C)
c.1504-1G>C (n.1504-1G>C)
c.1723-1G>C (n.1723-1G>C)
n.378-1G>C
c.1378-1G>C (n.1378-1G>C)
c.*927C>G (n.*927C>G)
c.1519-1G>C (n.1519-1G>C)
c.1546-1G>C (n.1546-1G>C)
c.1585-1G>C (n.1585-1G>C)
n.1527-1G>C
c.1711-1G>C (n.1711-1G>C)
c.840-1G>C
c.812-1G>C
c.1369-1G>C (n.1369-1G>C)
c.730-1G>C (n.730-1G>C)
c.1480-1G>C (n.1480-1G>C)
c.70-1G>C (n.70-1G>C)
c.857-1G>C
c.1543-1G>C (n.1543-1G>C)
n.841-1G>C
c.1795-1G>C (n.1795-1G>C)
c.1789-1G>C (n.1789-1G>C)
c.1777-1G>C (n.1777-1G>C)
c.1732-1G>C (n.1732-1G>C)
c.1729-1G>C (n.1729-1G>C)
c.1666-1G>C (n.1666-1G>C)
c.1528-1G>C (n.1528-1G>C)
c.1423-1G>C (n.1423-1G>C)
c.1753-1G>C (n.1753-1G>C)
c.1750-1G>C (n.1750-1G>C)
c.1687-1G>C (n.1687-1G>C)
c.1642-1G>C (n.1642-1G>C)
c.1438-1G>C (n.1438-1G>C)
c.1738-1G>C (n.1738-1G>C)
c.1489-1G>C (n.1489-1G>C)
n.3912C>G
n.779-1G>C
5g.96762273G>TCA360484857CAST,ERAP1c.754-1G>T (n.754-1G>T)
c.1684-1G>T (n.1684-1G>T)
c.1462-1G>T (n.1462-1G>T)
c.1291-1G>T (n.1291-1G>T)
c.1576-1G>T (n.1576-1G>T)
c.1768-1G>T (n.1768-1G>T)
c.1834-1G>T (n.1834-1G>T)
c.215-1G>T
c.1736-1G>T
c.*1458-1G>T (n.*1458-1G>T)
c.551-1G>T
c.1447-1G>T (n.1447-1G>T)
c.1504-1G>T (n.1504-1G>T)
c.1723-1G>T (n.1723-1G>T)
n.378-1G>T
c.1378-1G>T (n.1378-1G>T)
c.*927C>A (n.*927C>A)
c.1519-1G>T (n.1519-1G>T)
c.1546-1G>T (n.1546-1G>T)
c.1585-1G>T (n.1585-1G>T)
n.1527-1G>T
c.1711-1G>T (n.1711-1G>T)
c.840-1G>T
c.812-1G>T
c.1369-1G>T (n.1369-1G>T)
c.730-1G>T (n.730-1G>T)
c.1480-1G>T (n.1480-1G>T)
c.70-1G>T (n.70-1G>T)
c.857-1G>T
c.1543-1G>T (n.1543-1G>T)
n.841-1G>T
c.1795-1G>T (n.1795-1G>T)
c.1789-1G>T (n.1789-1G>T)
c.1777-1G>T (n.1777-1G>T)
c.1732-1G>T (n.1732-1G>T)
c.1729-1G>T (n.1729-1G>T)
c.1666-1G>T (n.1666-1G>T)
c.1528-1G>T (n.1528-1G>T)
c.1423-1G>T (n.1423-1G>T)
c.1753-1G>T (n.1753-1G>T)
c.1750-1G>T (n.1750-1G>T)
c.1687-1G>T (n.1687-1G>T)
c.1642-1G>T (n.1642-1G>T)
c.1438-1G>T (n.1438-1G>T)
c.1738-1G>T (n.1738-1G>T)
c.1489-1G>T (n.1489-1G>T)
n.3912C>A
n.779-1G>T
5g.96762274A>CCA360484859CAST,ERAP1c.754A>C (p.Lys252Gln)
c.1684A>C (p.Lys562Gln)
c.1462A>C (p.Lys488Gln)
c.1291A>C (p.Lys431Gln)
c.1576A>C (p.Lys526Gln)
c.1768A>C (p.Lys590Gln)
c.1834A>C (p.Lys612Gln)
c.215A>C
c.1736A>C
c.*1458A>C (n.*1458A>C)
c.551A>C
c.1447A>C (p.Lys483Gln)
c.1504A>C (p.Lys502Gln)
c.1723A>C (p.Lys575Gln)
n.378A>C
c.1378A>C (p.Lys460Gln)
c.*926T>G (n.*926T>G)
c.1519A>C (p.Lys507Gln)
c.1546A>C (p.Lys516Gln)
c.1585A>C (p.Lys529Gln)
n.1527A>C
c.1711A>C (p.Lys571Gln)
c.840A>C
c.812A>C
c.1369A>C (p.Lys457Gln)
c.730A>C (p.Lys244Gln)
c.1480A>C (p.Lys494Gln)
c.70A>C (p.Lys24Gln)
c.857A>C
c.1543A>C (p.Lys515Gln)
n.841A>C
c.1795A>C (p.Lys599Gln)
c.1789A>C (p.Lys597Gln)
c.1777A>C (p.Lys593Gln)
c.1732A>C (p.Lys578Gln)
c.1729A>C (p.Lys577Gln)
c.1666A>C (p.Lys556Gln)
c.1528A>C (p.Lys510Gln)
c.1423A>C (p.Lys475Gln)
c.1753A>C (p.Lys585Gln)
c.1750A>C (p.Lys584Gln)
c.1687A>C (p.Lys563Gln)
c.1642A>C (p.Lys548Gln)
c.1438A>C (p.Lys480Gln)
c.1738A>C (p.Lys580Gln)
c.1489A>C (p.Lys497Gln)
n.3911T>G
n.779A>C
5g.96762274A>GCA360484860CAST,ERAP1c.754A>G (p.Lys252Glu)
c.1684A>G (p.Lys562Glu)
c.1462A>G (p.Lys488Glu)
c.1291A>G (p.Lys431Glu)
c.1576A>G (p.Lys526Glu)
c.1768A>G (p.Lys590Glu)
c.1834A>G (p.Lys612Glu)
c.215A>G
c.1736A>G
c.*1458A>G (n.*1458A>G)
c.551A>G
c.1447A>G (p.Lys483Glu)
c.1504A>G (p.Lys502Glu)
c.1723A>G (p.Lys575Glu)
n.378A>G
c.1378A>G (p.Lys460Glu)
c.*926T>C (n.*926T>C)
c.1519A>G (p.Lys507Glu)
c.1546A>G (p.Lys516Glu)
c.1585A>G (p.Lys529Glu)
n.1527A>G
c.1711A>G (p.Lys571Glu)
c.840A>G
c.812A>G
c.1369A>G (p.Lys457Glu)
c.730A>G (p.Lys244Glu)
c.1480A>G (p.Lys494Glu)
c.70A>G (p.Lys24Glu)
c.857A>G
c.1543A>G (p.Lys515Glu)
n.841A>G
c.1795A>G (p.Lys599Glu)
c.1789A>G (p.Lys597Glu)
c.1777A>G (p.Lys593Glu)
c.1732A>G (p.Lys578Glu)
c.1729A>G (p.Lys577Glu)
c.1666A>G (p.Lys556Glu)
c.1528A>G (p.Lys510Glu)
c.1423A>G (p.Lys475Glu)
c.1753A>G (p.Lys585Glu)
c.1750A>G (p.Lys584Glu)
c.1687A>G (p.Lys563Glu)
c.1642A>G (p.Lys548Glu)
c.1438A>G (p.Lys480Glu)
c.1738A>G (p.Lys580Glu)
c.1489A>G (p.Lys497Glu)
n.3911T>C
n.779A>G
5g.96762274A>TCA360484861CAST,ERAP1c.754A>T (p.Lys252Ter)
c.1684A>T (p.Lys562Ter)
c.1462A>T (p.Lys488Ter)
c.1291A>T (p.Lys431Ter)
c.1576A>T (p.Lys526Ter)
c.1768A>T (p.Lys590Ter)
c.1834A>T (p.Lys612Ter)
c.215A>T
c.1736A>T
c.*1458A>T (n.*1458A>T)
c.551A>T
c.1447A>T (p.Lys483Ter)
c.1504A>T (p.Lys502Ter)
c.1723A>T (p.Lys575Ter)
n.378A>T
c.1378A>T (p.Lys460Ter)
c.*926T>A (n.*926T>A)
c.1519A>T (p.Lys507Ter)
c.1546A>T (p.Lys516Ter)
c.1585A>T (p.Lys529Ter)
n.1527A>T
c.1711A>T (p.Lys571Ter)
c.840A>T
c.812A>T
c.1369A>T (p.Lys457Ter)
c.730A>T (p.Lys244Ter)
c.1480A>T (p.Lys494Ter)
c.70A>T (p.Lys24Ter)
c.857A>T
c.1543A>T (p.Lys515Ter)
n.841A>T
c.1795A>T (p.Lys599Ter)
c.1789A>T (p.Lys597Ter)
c.1777A>T (p.Lys593Ter)
c.1732A>T (p.Lys578Ter)
c.1729A>T (p.Lys577Ter)
c.1666A>T (p.Lys556Ter)
c.1528A>T (p.Lys510Ter)
c.1423A>T (p.Lys475Ter)
c.1753A>T (p.Lys585Ter)
c.1750A>T (p.Lys584Ter)
c.1687A>T (p.Lys563Ter)
c.1642A>T (p.Lys548Ter)
c.1438A>T (p.Lys480Ter)
c.1738A>T (p.Lys580Ter)
c.1489A>T (p.Lys497Ter)
n.3911T>A
n.779A>T
5g.96762275A=CA1565569263CAST,ERAP1c.755A= (p.Lys252=)
c.1685A= (p.Lys562=)
c.1463A= (p.Lys488=)
c.1292A= (p.Lys431=)
c.1577A= (p.Lys526=)
c.1769A= (p.Lys590=)
c.1835A= (p.Lys612=)
c.216A=
c.1737A=
c.*1459A= (n.*1459A=)
c.552A=
c.1448A= (p.Lys483=)
c.1505A= (p.Lys502=)
c.1724A= (p.Lys575=)
n.379A=
c.1379A= (p.Lys460=)
c.*925T= (n.*925T=)
c.1520A= (p.Lys507=)
c.1547A= (p.Lys516=)
c.1586A= (p.Lys529=)
n.1528A=
c.1712A= (p.Lys571=)
c.841A=
c.813A=
c.1370A= (p.Lys457=)
c.731A= (p.Lys244=)
c.1481A= (p.Lys494=)
c.71A= (p.Lys24=)
c.858A=
c.1544A= (p.Lys515=)
n.842A=
c.1796A= (p.Lys599=)
c.1790A= (p.Lys597=)
c.1778A= (p.Lys593=)
c.1733A= (p.Lys578=)
c.1730A= (p.Lys577=)
c.1667A= (p.Lys556=)
c.1529A= (p.Lys510=)
c.1424A= (p.Lys475=)
c.1754A= (p.Lys585=)
c.1751A= (p.Lys584=)
c.1688A= (p.Lys563=)
c.1643A= (p.Lys548=)
c.1439A= (p.Lys480=)
c.1739A= (p.Lys580=)
c.1490A= (p.Lys497=)
n.3910T=
n.780A=
5g.96762275A>CCA360484862CAST,ERAP1c.755A>C (p.Lys252Thr)
c.1685A>C (p.Lys562Thr)
c.1463A>C (p.Lys488Thr)
c.1292A>C (p.Lys431Thr)
c.1577A>C (p.Lys526Thr)
c.1769A>C (p.Lys590Thr)
c.1835A>C (p.Lys612Thr)
c.216A>C
c.1737A>C
c.*1459A>C (n.*1459A>C)
c.552A>C
c.1448A>C (p.Lys483Thr)
c.1505A>C (p.Lys502Thr)
c.1724A>C (p.Lys575Thr)
n.379A>C
c.1379A>C (p.Lys460Thr)
c.*925T>G (n.*925T>G)
c.1520A>C (p.Lys507Thr)
c.1547A>C (p.Lys516Thr)
c.1586A>C (p.Lys529Thr)
n.1528A>C
c.1712A>C (p.Lys571Thr)
c.841A>C
c.813A>C
c.1370A>C (p.Lys457Thr)
c.731A>C (p.Lys244Thr)
c.1481A>C (p.Lys494Thr)
c.71A>C (p.Lys24Thr)
c.858A>C
c.1544A>C (p.Lys515Thr)
n.842A>C
c.1796A>C (p.Lys599Thr)
c.1790A>C (p.Lys597Thr)
c.1778A>C (p.Lys593Thr)
c.1733A>C (p.Lys578Thr)
c.1730A>C (p.Lys577Thr)
c.1667A>C (p.Lys556Thr)
c.1529A>C (p.Lys510Thr)
c.1424A>C (p.Lys475Thr)
c.1754A>C (p.Lys585Thr)
c.1751A>C (p.Lys584Thr)
c.1688A>C (p.Lys563Thr)
c.1643A>C (p.Lys548Thr)
c.1439A>C (p.Lys480Thr)
c.1739A>C (p.Lys580Thr)
c.1490A>C (p.Lys497Thr)
n.3910T>G
n.780A>C
5g.96762275A>GCA3351496CAST,ERAP1c.755A>G (p.Lys252Arg)
c.1685A>G (p.Lys562Arg)
c.1463A>G (p.Lys488Arg)
c.1292A>G (p.Lys431Arg)
c.1577A>G (p.Lys526Arg)
c.1769A>G (p.Lys590Arg)
c.1835A>G (p.Lys612Arg)
c.216A>G
c.1737A>G
c.*1459A>G (n.*1459A>G)
c.552A>G
c.1448A>G (p.Lys483Arg)
c.1505A>G (p.Lys502Arg)
c.1724A>G (p.Lys575Arg)
n.379A>G
c.1379A>G (p.Lys460Arg)
c.*925T>C (n.*925T>C)
c.1520A>G (p.Lys507Arg)
c.1547A>G (p.Lys516Arg)
c.1586A>G (p.Lys529Arg)
n.1528A>G
c.1712A>G (p.Lys571Arg)
c.841A>G
c.813A>G
c.1370A>G (p.Lys457Arg)
c.731A>G (p.Lys244Arg)
c.1481A>G (p.Lys494Arg)
c.71A>G (p.Lys24Arg)
c.858A>G
c.1544A>G (p.Lys515Arg)
n.842A>G
c.1796A>G (p.Lys599Arg)
c.1790A>G (p.Lys597Arg)
c.1778A>G (p.Lys593Arg)
c.1733A>G (p.Lys578Arg)
c.1730A>G (p.Lys577Arg)
c.1667A>G (p.Lys556Arg)
c.1529A>G (p.Lys510Arg)
c.1424A>G (p.Lys475Arg)
c.1754A>G (p.Lys585Arg)
c.1751A>G (p.Lys584Arg)
c.1688A>G (p.Lys563Arg)
c.1643A>G (p.Lys548Arg)
c.1439A>G (p.Lys480Arg)
c.1739A>G (p.Lys580Arg)
c.1490A>G (p.Lys497Arg)
n.3910T>C
n.780A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762275A>TCA360484863CAST,ERAP1c.755A>T (p.Lys252Ile)
c.1685A>T (p.Lys562Ile)
c.1463A>T (p.Lys488Ile)
c.1292A>T (p.Lys431Ile)
c.1577A>T (p.Lys526Ile)
c.1769A>T (p.Lys590Ile)
c.1835A>T (p.Lys612Ile)
c.216A>T
c.1737A>T
c.*1459A>T (n.*1459A>T)
c.552A>T
c.1448A>T (p.Lys483Ile)
c.1505A>T (p.Lys502Ile)
c.1724A>T (p.Lys575Ile)
n.379A>T
c.1379A>T (p.Lys460Ile)
c.*925T>A (n.*925T>A)
c.1520A>T (p.Lys507Ile)
c.1547A>T (p.Lys516Ile)
c.1586A>T (p.Lys529Ile)
n.1528A>T
c.1712A>T (p.Lys571Ile)
c.841A>T
c.813A>T
c.1370A>T (p.Lys457Ile)
c.731A>T (p.Lys244Ile)
c.1481A>T (p.Lys494Ile)
c.71A>T (p.Lys24Ile)
c.858A>T
c.1544A>T (p.Lys515Ile)
n.842A>T
c.1796A>T (p.Lys599Ile)
c.1790A>T (p.Lys597Ile)
c.1778A>T (p.Lys593Ile)
c.1733A>T (p.Lys578Ile)
c.1730A>T (p.Lys577Ile)
c.1667A>T (p.Lys556Ile)
c.1529A>T (p.Lys510Ile)
c.1424A>T (p.Lys475Ile)
c.1754A>T (p.Lys585Ile)
c.1751A>T (p.Lys584Ile)
c.1688A>T (p.Lys563Ile)
c.1643A>T (p.Lys548Ile)
c.1439A>T (p.Lys480Ile)
c.1739A>T (p.Lys580Ile)
c.1490A>T (p.Lys497Ile)
n.3910T>A
n.780A>T
5g.96762276A=CA1565569264CAST,ERAP1c.756A= (p.Lys252=)
c.1686A= (p.Lys562=)
c.1464A= (p.Lys488=)
c.1293A= (p.Lys431=)
c.1578A= (p.Lys526=)
c.1770A= (p.Lys590=)
c.1836A= (p.Lys612=)
c.217A=
c.1738A=
c.*1460A= (n.*1460A=)
c.553A=
c.1449A= (p.Lys483=)
c.1506A= (p.Lys502=)
c.1725A= (p.Lys575=)
n.380A=
c.1380A= (p.Lys460=)
c.*924T= (n.*924T=)
c.1521A= (p.Lys507=)
c.1548A= (p.Lys516=)
c.1587A= (p.Lys529=)
n.1529A=
c.1713A= (p.Lys571=)
c.842A=
c.814A=
c.1371A= (p.Lys457=)
c.732A= (p.Lys244=)
c.1482A= (p.Lys494=)
c.72A= (p.Lys24=)
c.859A=
c.1545A= (p.Lys515=)
n.843A=
c.1797A= (p.Lys599=)
c.1791A= (p.Lys597=)
c.1779A= (p.Lys593=)
c.1734A= (p.Lys578=)
c.1731A= (p.Lys577=)
c.1668A= (p.Lys556=)
c.1530A= (p.Lys510=)
c.1425A= (p.Lys475=)
c.1755A= (p.Lys585=)
c.1752A= (p.Lys584=)
c.1689A= (p.Lys563=)
c.1644A= (p.Lys548=)
c.1440A= (p.Lys480=)
c.1740A= (p.Lys580=)
c.1491A= (p.Lys497=)
n.3909T=
n.781A=
5g.96762276A>CCA360484864CAST,ERAP1c.756A>C (p.Lys252Asn)
c.1686A>C (p.Lys562Asn)
c.1464A>C (p.Lys488Asn)
c.1293A>C (p.Lys431Asn)
c.1578A>C (p.Lys526Asn)
c.1770A>C (p.Lys590Asn)
c.1836A>C (p.Lys612Asn)
c.217A>C
c.1738A>C
c.*1460A>C (n.*1460A>C)
c.553A>C
c.1449A>C (p.Lys483Asn)
c.1506A>C (p.Lys502Asn)
c.1725A>C (p.Lys575Asn)
n.380A>C
c.1380A>C (p.Lys460Asn)
c.*924T>G (n.*924T>G)
c.1521A>C (p.Lys507Asn)
c.1548A>C (p.Lys516Asn)
c.1587A>C (p.Lys529Asn)
n.1529A>C
c.1713A>C (p.Lys571Asn)
c.842A>C
c.814A>C
c.1371A>C (p.Lys457Asn)
c.732A>C (p.Lys244Asn)
c.1482A>C (p.Lys494Asn)
c.72A>C (p.Lys24Asn)
c.859A>C
c.1545A>C (p.Lys515Asn)
n.843A>C
c.1797A>C (p.Lys599Asn)
c.1791A>C (p.Lys597Asn)
c.1779A>C (p.Lys593Asn)
c.1734A>C (p.Lys578Asn)
c.1731A>C (p.Lys577Asn)
c.1668A>C (p.Lys556Asn)
c.1530A>C (p.Lys510Asn)
c.1425A>C (p.Lys475Asn)
c.1755A>C (p.Lys585Asn)
c.1752A>C (p.Lys584Asn)
c.1689A>C (p.Lys563Asn)
c.1644A>C (p.Lys548Asn)
c.1440A>C (p.Lys480Asn)
c.1740A>C (p.Lys580Asn)
c.1491A>C (p.Lys497Asn)
n.3909T>G
n.781A>C
5g.96762276A>GCA3351497CAST,ERAP1c.756A>G (p.Lys252=)
c.1686A>G (p.Lys562=)
c.1464A>G (p.Lys488=)
c.1293A>G (p.Lys431=)
c.1578A>G (p.Lys526=)
c.1770A>G (p.Lys590=)
c.1836A>G (p.Lys612=)
c.217A>G
c.1738A>G
c.*1460A>G (n.*1460A>G)
c.553A>G
c.1449A>G (p.Lys483=)
c.1506A>G (p.Lys502=)
c.1725A>G (p.Lys575=)
n.380A>G
c.1380A>G (p.Lys460=)
c.*924T>C (n.*924T>C)
c.1521A>G (p.Lys507=)
c.1548A>G (p.Lys516=)
c.1587A>G (p.Lys529=)
n.1529A>G
c.1713A>G (p.Lys571=)
c.842A>G
c.814A>G
c.1371A>G (p.Lys457=)
c.732A>G (p.Lys244=)
c.1482A>G (p.Lys494=)
c.72A>G (p.Lys24=)
c.859A>G
c.1545A>G (p.Lys515=)
n.843A>G
c.1797A>G (p.Lys599=)
c.1791A>G (p.Lys597=)
c.1779A>G (p.Lys593=)
c.1734A>G (p.Lys578=)
c.1731A>G (p.Lys577=)
c.1668A>G (p.Lys556=)
c.1530A>G (p.Lys510=)
c.1425A>G (p.Lys475=)
c.1755A>G (p.Lys585=)
c.1752A>G (p.Lys584=)
c.1689A>G (p.Lys563=)
c.1644A>G (p.Lys548=)
c.1440A>G (p.Lys480=)
c.1740A>G (p.Lys580=)
c.1491A>G (p.Lys497=)
n.3909T>C
n.781A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762276A>TCA360484865CAST,ERAP1c.756A>T (p.Lys252Asn)
c.1686A>T (p.Lys562Asn)
c.1464A>T (p.Lys488Asn)
c.1293A>T (p.Lys431Asn)
c.1578A>T (p.Lys526Asn)
c.1770A>T (p.Lys590Asn)
c.1836A>T (p.Lys612Asn)
c.217A>T
c.1738A>T
c.*1460A>T (n.*1460A>T)
c.553A>T
c.1449A>T (p.Lys483Asn)
c.1506A>T (p.Lys502Asn)
c.1725A>T (p.Lys575Asn)
n.380A>T
c.1380A>T (p.Lys460Asn)
c.*924T>A (n.*924T>A)
c.1521A>T (p.Lys507Asn)
c.1548A>T (p.Lys516Asn)
c.1587A>T (p.Lys529Asn)
n.1529A>T
c.1713A>T (p.Lys571Asn)
c.842A>T
c.814A>T
c.1371A>T (p.Lys457Asn)
c.732A>T (p.Lys244Asn)
c.1482A>T (p.Lys494Asn)
c.72A>T (p.Lys24Asn)
c.859A>T
c.1545A>T (p.Lys515Asn)
n.843A>T
c.1797A>T (p.Lys599Asn)
c.1791A>T (p.Lys597Asn)
c.1779A>T (p.Lys593Asn)
c.1734A>T (p.Lys578Asn)
c.1731A>T (p.Lys577Asn)
c.1668A>T (p.Lys556Asn)
c.1530A>T (p.Lys510Asn)
c.1425A>T (p.Lys475Asn)
c.1755A>T (p.Lys585Asn)
c.1752A>T (p.Lys584Asn)
c.1689A>T (p.Lys563Asn)
c.1644A>T (p.Lys548Asn)
c.1440A>T (p.Lys480Asn)
c.1740A>T (p.Lys580Asn)
c.1491A>T (p.Lys497Asn)
n.3909T>A
n.781A>T
5g.96762277T>ACA360484867CAST,ERAP1c.757T>A (p.Phe253Ile)
c.1687T>A (p.Phe563Ile)
c.1465T>A (p.Phe489Ile)
c.1294T>A (p.Phe432Ile)
c.1579T>A (p.Phe527Ile)
c.1771T>A (p.Phe591Ile)
c.1837T>A (p.Phe613Ile)
c.218T>A
c.1739T>A
c.*1461T>A (n.*1461T>A)
c.554T>A
c.1450T>A (p.Phe484Ile)
c.1507T>A (p.Phe503Ile)
c.1726T>A (p.Phe576Ile)
n.381T>A
c.1381T>A (p.Phe461Ile)
c.*923A>T (n.*923A>T)
c.1522T>A (p.Phe508Ile)
c.1549T>A (p.Phe517Ile)
c.1588T>A (p.Phe530Ile)
n.1530T>A
c.1714T>A (p.Phe572Ile)
c.843T>A
c.815T>A
c.1372T>A (p.Phe458Ile)
c.733T>A (p.Phe245Ile)
c.1483T>A (p.Phe495Ile)
c.73T>A (p.Phe25Ile)
c.860T>A
c.1546T>A (p.Phe516Ile)
n.844T>A
c.1798T>A (p.Phe600Ile)
c.1792T>A (p.Phe598Ile)
c.1780T>A (p.Phe594Ile)
c.1735T>A (p.Phe579Ile)
c.1732T>A (p.Phe578Ile)
c.1669T>A (p.Phe557Ile)
c.1531T>A (p.Phe511Ile)
c.1426T>A (p.Phe476Ile)
c.1756T>A (p.Phe586Ile)
c.1753T>A (p.Phe585Ile)
c.1690T>A (p.Phe564Ile)
c.1645T>A (p.Phe549Ile)
c.1441T>A (p.Phe481Ile)
c.1741T>A (p.Phe581Ile)
c.1492T>A (p.Phe498Ile)
n.3908A>T
n.782T>A
5g.96762277T>CCA3351498CAST,ERAP1c.757T>C (p.Phe253Leu)
c.1687T>C (p.Phe563Leu)
c.1465T>C (p.Phe489Leu)
c.1294T>C (p.Phe432Leu)
c.1579T>C (p.Phe527Leu)
c.1771T>C (p.Phe591Leu)
c.1837T>C (p.Phe613Leu)
c.218T>C
c.1739T>C
c.*1461T>C (n.*1461T>C)
c.554T>C
c.1450T>C (p.Phe484Leu)
c.1507T>C (p.Phe503Leu)
c.1726T>C (p.Phe576Leu)
n.381T>C
c.1381T>C (p.Phe461Leu)
c.*923A>G (n.*923A>G)
c.1522T>C (p.Phe508Leu)
c.1549T>C (p.Phe517Leu)
c.1588T>C (p.Phe530Leu)
n.1530T>C
c.1714T>C (p.Phe572Leu)
c.843T>C
c.815T>C
c.1372T>C (p.Phe458Leu)
c.733T>C (p.Phe245Leu)
c.1483T>C (p.Phe495Leu)
c.73T>C (p.Phe25Leu)
c.860T>C
c.1546T>C (p.Phe516Leu)
n.844T>C
c.1798T>C (p.Phe600Leu)
c.1792T>C (p.Phe598Leu)
c.1780T>C (p.Phe594Leu)
c.1735T>C (p.Phe579Leu)
c.1732T>C (p.Phe578Leu)
c.1669T>C (p.Phe557Leu)
c.1531T>C (p.Phe511Leu)
c.1426T>C (p.Phe476Leu)
c.1756T>C (p.Phe586Leu)
c.1753T>C (p.Phe585Leu)
c.1690T>C (p.Phe564Leu)
c.1645T>C (p.Phe549Leu)
c.1441T>C (p.Phe481Leu)
c.1741T>C (p.Phe581Leu)
c.1492T>C (p.Phe498Leu)
n.3908A>G
n.782T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762277T>GCA360484866CAST,ERAP1c.757T>G (p.Phe253Val)
c.1687T>G (p.Phe563Val)
c.1465T>G (p.Phe489Val)
c.1294T>G (p.Phe432Val)
c.1579T>G (p.Phe527Val)
c.1771T>G (p.Phe591Val)
c.1837T>G (p.Phe613Val)
c.218T>G
c.1739T>G
c.*1461T>G (n.*1461T>G)
c.554T>G
c.1450T>G (p.Phe484Val)
c.1507T>G (p.Phe503Val)
c.1726T>G (p.Phe576Val)
n.381T>G
c.1381T>G (p.Phe461Val)
c.*923A>C (n.*923A>C)
c.1522T>G (p.Phe508Val)
c.1549T>G (p.Phe517Val)
c.1588T>G (p.Phe530Val)
n.1530T>G
c.1714T>G (p.Phe572Val)
c.843T>G
c.815T>G
c.1372T>G (p.Phe458Val)
c.733T>G (p.Phe245Val)
c.1483T>G (p.Phe495Val)
c.73T>G (p.Phe25Val)
c.860T>G
c.1546T>G (p.Phe516Val)
n.844T>G
c.1798T>G (p.Phe600Val)
c.1792T>G (p.Phe598Val)
c.1780T>G (p.Phe594Val)
c.1735T>G (p.Phe579Val)
c.1732T>G (p.Phe578Val)
c.1669T>G (p.Phe557Val)
c.1531T>G (p.Phe511Val)
c.1426T>G (p.Phe476Val)
c.1756T>G (p.Phe586Val)
c.1753T>G (p.Phe585Val)
c.1690T>G (p.Phe564Val)
c.1645T>G (p.Phe549Val)
c.1441T>G (p.Phe481Val)
c.1741T>G (p.Phe581Val)
c.1492T>G (p.Phe498Val)
n.3908A>C
n.782T>G
5g.96762277T=CA1565569265CAST,ERAP1c.757T= (p.Phe253=)
c.1687T= (p.Phe563=)
c.1465T= (p.Phe489=)
c.1294T= (p.Phe432=)
c.1579T= (p.Phe527=)
c.1771T= (p.Phe591=)
c.1837T= (p.Phe613=)
c.218T=
c.1739T=
c.*1461T= (n.*1461T=)
c.554T=
c.1450T= (p.Phe484=)
c.1507T= (p.Phe503=)
c.1726T= (p.Phe576=)
n.381T=
c.1381T= (p.Phe461=)
c.*923A= (n.*923A=)
c.1522T= (p.Phe508=)
c.1549T= (p.Phe517=)
c.1588T= (p.Phe530=)
n.1530T=
c.1714T= (p.Phe572=)
c.843T=
c.815T=
c.1372T= (p.Phe458=)
c.733T= (p.Phe245=)
c.1483T= (p.Phe495=)
c.73T= (p.Phe25=)
c.860T=
c.1546T= (p.Phe516=)
n.844T=
c.1798T= (p.Phe600=)
c.1792T= (p.Phe598=)
c.1780T= (p.Phe594=)
c.1735T= (p.Phe579=)
c.1732T= (p.Phe578=)
c.1669T= (p.Phe557=)
c.1531T= (p.Phe511=)
c.1426T= (p.Phe476=)
c.1756T= (p.Phe586=)
c.1753T= (p.Phe585=)
c.1690T= (p.Phe564=)
c.1645T= (p.Phe549=)
c.1441T= (p.Phe481=)
c.1741T= (p.Phe581=)
c.1492T= (p.Phe498=)
n.3908A=
n.782T=
5g.96762278T>ACA360484868CAST,ERAP1c.758T>A (p.Phe253Tyr)
c.1688T>A (p.Phe563Tyr)
c.1466T>A (p.Phe489Tyr)
c.1295T>A (p.Phe432Tyr)
c.1580T>A (p.Phe527Tyr)
c.1772T>A (p.Phe591Tyr)
c.1838T>A (p.Phe613Tyr)
c.219T>A
c.1740T>A
c.*1462T>A (n.*1462T>A)
c.555T>A
c.1451T>A (p.Phe484Tyr)
c.1508T>A (p.Phe503Tyr)
c.1727T>A (p.Phe576Tyr)
n.382T>A
c.1382T>A (p.Phe461Tyr)
c.*922A>T (n.*922A>T)
c.1523T>A (p.Phe508Tyr)
c.1550T>A (p.Phe517Tyr)
c.1589T>A (p.Phe530Tyr)
n.1531T>A
c.1715T>A (p.Phe572Tyr)
c.844T>A
c.816T>A
c.1373T>A (p.Phe458Tyr)
c.734T>A (p.Phe245Tyr)
c.1484T>A (p.Phe495Tyr)
c.74T>A (p.Phe25Tyr)
c.861T>A
c.1547T>A (p.Phe516Tyr)
n.845T>A
c.1799T>A (p.Phe600Tyr)
c.1793T>A (p.Phe598Tyr)
c.1781T>A (p.Phe594Tyr)
c.1736T>A (p.Phe579Tyr)
c.1733T>A (p.Phe578Tyr)
c.1670T>A (p.Phe557Tyr)
c.1532T>A (p.Phe511Tyr)
c.1427T>A (p.Phe476Tyr)
c.1757T>A (p.Phe586Tyr)
c.1754T>A (p.Phe585Tyr)
c.1691T>A (p.Phe564Tyr)
c.1646T>A (p.Phe549Tyr)
c.1442T>A (p.Phe481Tyr)
c.1742T>A (p.Phe581Tyr)
c.1493T>A (p.Phe498Tyr)
n.3907A>T
n.783T>A
5g.96762278T>CCA360484869CAST,ERAP1c.758T>C (p.Phe253Ser)
c.1688T>C (p.Phe563Ser)
c.1466T>C (p.Phe489Ser)
c.1295T>C (p.Phe432Ser)
c.1580T>C (p.Phe527Ser)
c.1772T>C (p.Phe591Ser)
c.1838T>C (p.Phe613Ser)
c.219T>C
c.1740T>C
c.*1462T>C (n.*1462T>C)
c.555T>C
c.1451T>C (p.Phe484Ser)
c.1508T>C (p.Phe503Ser)
c.1727T>C (p.Phe576Ser)
n.382T>C
c.1382T>C (p.Phe461Ser)
c.*922A>G (n.*922A>G)
c.1523T>C (p.Phe508Ser)
c.1550T>C (p.Phe517Ser)
c.1589T>C (p.Phe530Ser)
n.1531T>C
c.1715T>C (p.Phe572Ser)
c.844T>C
c.816T>C
c.1373T>C (p.Phe458Ser)
c.734T>C (p.Phe245Ser)
c.1484T>C (p.Phe495Ser)
c.74T>C (p.Phe25Ser)
c.861T>C
c.1547T>C (p.Phe516Ser)
n.845T>C
c.1799T>C (p.Phe600Ser)
c.1793T>C (p.Phe598Ser)
c.1781T>C (p.Phe594Ser)
c.1736T>C (p.Phe579Ser)
c.1733T>C (p.Phe578Ser)
c.1670T>C (p.Phe557Ser)
c.1532T>C (p.Phe511Ser)
c.1427T>C (p.Phe476Ser)
c.1757T>C (p.Phe586Ser)
c.1754T>C (p.Phe585Ser)
c.1691T>C (p.Phe564Ser)
c.1646T>C (p.Phe549Ser)
c.1442T>C (p.Phe481Ser)
c.1742T>C (p.Phe581Ser)
c.1493T>C (p.Phe498Ser)
n.3907A>G
n.783T>C
 dbSNP
5g.96762278T>GCA360484870CAST,ERAP1c.758T>G (p.Phe253Cys)
c.1688T>G (p.Phe563Cys)
c.1466T>G (p.Phe489Cys)
c.1295T>G (p.Phe432Cys)
c.1580T>G (p.Phe527Cys)
c.1772T>G (p.Phe591Cys)
c.1838T>G (p.Phe613Cys)
c.219T>G
c.1740T>G
c.*1462T>G (n.*1462T>G)
c.555T>G
c.1451T>G (p.Phe484Cys)
c.1508T>G (p.Phe503Cys)
c.1727T>G (p.Phe576Cys)
n.382T>G
c.1382T>G (p.Phe461Cys)
c.*922A>C (n.*922A>C)
c.1523T>G (p.Phe508Cys)
c.1550T>G (p.Phe517Cys)
c.1589T>G (p.Phe530Cys)
n.1531T>G
c.1715T>G (p.Phe572Cys)
c.844T>G
c.816T>G
c.1373T>G (p.Phe458Cys)
c.734T>G (p.Phe245Cys)
c.1484T>G (p.Phe495Cys)
c.74T>G (p.Phe25Cys)
c.861T>G
c.1547T>G (p.Phe516Cys)
n.845T>G
c.1799T>G (p.Phe600Cys)
c.1793T>G (p.Phe598Cys)
c.1781T>G (p.Phe594Cys)
c.1736T>G (p.Phe579Cys)
c.1733T>G (p.Phe578Cys)
c.1670T>G (p.Phe557Cys)
c.1532T>G (p.Phe511Cys)
c.1427T>G (p.Phe476Cys)
c.1757T>G (p.Phe586Cys)
c.1754T>G (p.Phe585Cys)
c.1691T>G (p.Phe564Cys)
c.1646T>G (p.Phe549Cys)
c.1442T>G (p.Phe481Cys)
c.1742T>G (p.Phe581Cys)
c.1493T>G (p.Phe498Cys)
n.3907A>C
n.783T>G
 dbSNP gnomAD v4
5g.96762278T=CA1565569266CAST,ERAP1c.758T= (p.Phe253=)
c.1688T= (p.Phe563=)
c.1466T= (p.Phe489=)
c.1295T= (p.Phe432=)
c.1580T= (p.Phe527=)
c.1772T= (p.Phe591=)
c.1838T= (p.Phe613=)
c.219T=
c.1740T=
c.*1462T= (n.*1462T=)
c.555T=
c.1451T= (p.Phe484=)
c.1508T= (p.Phe503=)
c.1727T= (p.Phe576=)
n.382T=
c.1382T= (p.Phe461=)
c.*922A= (n.*922A=)
c.1523T= (p.Phe508=)
c.1550T= (p.Phe517=)
c.1589T= (p.Phe530=)
n.1531T=
c.1715T= (p.Phe572=)
c.844T=
c.816T=
c.1373T= (p.Phe458=)
c.734T= (p.Phe245=)
c.1484T= (p.Phe495=)
c.74T= (p.Phe25=)
c.861T=
c.1547T= (p.Phe516=)
n.845T=
c.1799T= (p.Phe600=)
c.1793T= (p.Phe598=)
c.1781T= (p.Phe594=)
c.1736T= (p.Phe579=)
c.1733T= (p.Phe578=)
c.1670T= (p.Phe557=)
c.1532T= (p.Phe511=)
c.1427T= (p.Phe476=)
c.1757T= (p.Phe586=)
c.1754T= (p.Phe585=)
c.1691T= (p.Phe564=)
c.1646T= (p.Phe549=)
c.1442T= (p.Phe481=)
c.1742T= (p.Phe581=)
c.1493T= (p.Phe498=)
n.3907A=
n.783T=
5g.96762279T>ACA360484871CAST,ERAP1c.759T>A (p.Phe253Leu)
c.1689T>A (p.Phe563Leu)
c.1467T>A (p.Phe489Leu)
c.1296T>A (p.Phe432Leu)
c.1581T>A (p.Phe527Leu)
c.1773T>A (p.Phe591Leu)
c.1839T>A (p.Phe613Leu)
c.220T>A
c.1741T>A
c.*1463T>A (n.*1463T>A)
c.556T>A
c.1452T>A (p.Phe484Leu)
c.1509T>A (p.Phe503Leu)
c.1728T>A (p.Phe576Leu)
n.383T>A
c.1383T>A (p.Phe461Leu)
c.*921A>T (n.*921A>T)
c.1524T>A (p.Phe508Leu)
c.1551T>A (p.Phe517Leu)
c.1590T>A (p.Phe530Leu)
n.1532T>A
c.1716T>A (p.Phe572Leu)
c.845T>A
c.817T>A
c.1374T>A (p.Phe458Leu)
c.735T>A (p.Phe245Leu)
c.1485T>A (p.Phe495Leu)
c.75T>A (p.Phe25Leu)
c.862T>A
c.1548T>A (p.Phe516Leu)
n.846T>A
c.1800T>A (p.Phe600Leu)
c.1794T>A (p.Phe598Leu)
c.1782T>A (p.Phe594Leu)
c.1737T>A (p.Phe579Leu)
c.1734T>A (p.Phe578Leu)
c.1671T>A (p.Phe557Leu)
c.1533T>A (p.Phe511Leu)
c.1428T>A (p.Phe476Leu)
c.1758T>A (p.Phe586Leu)
c.1755T>A (p.Phe585Leu)
c.1692T>A (p.Phe564Leu)
c.1647T>A (p.Phe549Leu)
c.1443T>A (p.Phe481Leu)
c.1743T>A (p.Phe581Leu)
c.1494T>A (p.Phe498Leu)
n.3906A>T
n.784T>A
5g.96762279T>CCA445510853CAST,ERAP1c.759T>C (p.Phe253=)
c.1689T>C (p.Phe563=)
c.1467T>C (p.Phe489=)
c.1296T>C (p.Phe432=)
c.1581T>C (p.Phe527=)
c.1773T>C (p.Phe591=)
c.1839T>C (p.Phe613=)
c.220T>C
c.1741T>C
c.*1463T>C (n.*1463T>C)
c.556T>C
c.1452T>C (p.Phe484=)
c.1509T>C (p.Phe503=)
c.1728T>C (p.Phe576=)
n.383T>C
c.1383T>C (p.Phe461=)
c.*921A>G (n.*921A>G)
c.1524T>C (p.Phe508=)
c.1551T>C (p.Phe517=)
c.1590T>C (p.Phe530=)
n.1532T>C
c.1716T>C (p.Phe572=)
c.845T>C
c.817T>C
c.1374T>C (p.Phe458=)
c.735T>C (p.Phe245=)
c.1485T>C (p.Phe495=)
c.75T>C (p.Phe25=)
c.862T>C
c.1548T>C (p.Phe516=)
n.846T>C
c.1800T>C (p.Phe600=)
c.1794T>C (p.Phe598=)
c.1782T>C (p.Phe594=)
c.1737T>C (p.Phe579=)
c.1734T>C (p.Phe578=)
c.1671T>C (p.Phe557=)
c.1533T>C (p.Phe511=)
c.1428T>C (p.Phe476=)
c.1758T>C (p.Phe586=)
c.1755T>C (p.Phe585=)
c.1692T>C (p.Phe564=)
c.1647T>C (p.Phe549=)
c.1443T>C (p.Phe481=)
c.1743T>C (p.Phe581=)
c.1494T>C (p.Phe498=)
n.3906A>G
n.784T>C
5g.96762279T>GCA360484872CAST,ERAP1c.759T>G (p.Phe253Leu)
c.1689T>G (p.Phe563Leu)
c.1467T>G (p.Phe489Leu)
c.1296T>G (p.Phe432Leu)
c.1581T>G (p.Phe527Leu)
c.1773T>G (p.Phe591Leu)
c.1839T>G (p.Phe613Leu)
c.220T>G
c.1741T>G
c.*1463T>G (n.*1463T>G)
c.556T>G
c.1452T>G (p.Phe484Leu)
c.1509T>G (p.Phe503Leu)
c.1728T>G (p.Phe576Leu)
n.383T>G
c.1383T>G (p.Phe461Leu)
c.*921A>C (n.*921A>C)
c.1524T>G (p.Phe508Leu)
c.1551T>G (p.Phe517Leu)
c.1590T>G (p.Phe530Leu)
n.1532T>G
c.1716T>G (p.Phe572Leu)
c.845T>G
c.817T>G
c.1374T>G (p.Phe458Leu)
c.735T>G (p.Phe245Leu)
c.1485T>G (p.Phe495Leu)
c.75T>G (p.Phe25Leu)
c.862T>G
c.1548T>G (p.Phe516Leu)
n.846T>G
c.1800T>G (p.Phe600Leu)
c.1794T>G (p.Phe598Leu)
c.1782T>G (p.Phe594Leu)
c.1737T>G (p.Phe579Leu)
c.1734T>G (p.Phe578Leu)
c.1671T>G (p.Phe557Leu)
c.1533T>G (p.Phe511Leu)
c.1428T>G (p.Phe476Leu)
c.1758T>G (p.Phe586Leu)
c.1755T>G (p.Phe585Leu)
c.1692T>G (p.Phe564Leu)
c.1647T>G (p.Phe549Leu)
c.1443T>G (p.Phe481Leu)
c.1743T>G (p.Phe581Leu)
c.1494T>G (p.Phe498Leu)
n.3906A>C
n.784T>G
5g.96762280G>ACA360484873CAST,ERAP1c.760G>A (p.Glu254Lys)
c.1690G>A (p.Glu564Lys)
c.1468G>A (p.Glu490Lys)
c.1297G>A (p.Glu433Lys)
c.1582G>A (p.Glu528Lys)
c.1774G>A (p.Glu592Lys)
c.1840G>A (p.Glu614Lys)
c.221G>A
c.1742G>A
c.*1464G>A (n.*1464G>A)
c.557G>A
c.1453G>A (p.Glu485Lys)
c.1510G>A (p.Glu504Lys)
c.1729G>A (p.Glu577Lys)
n.384G>A
c.1384G>A (p.Glu462Lys)
c.*920C>T (n.*920C>T)
c.1525G>A (p.Glu509Lys)
c.1552G>A (p.Glu518Lys)
c.1591G>A (p.Glu531Lys)
n.1533G>A
c.1717G>A (p.Glu573Lys)
c.846G>A
c.818G>A
c.1375G>A (p.Glu459Lys)
c.736G>A (p.Glu246Lys)
c.1486G>A (p.Glu496Lys)
c.76G>A (p.Glu26Lys)
c.863G>A
c.1549G>A (p.Glu517Lys)
n.847G>A
c.1801G>A (p.Glu601Lys)
c.1795G>A (p.Glu599Lys)
c.1783G>A (p.Glu595Lys)
c.1738G>A (p.Glu580Lys)
c.1735G>A (p.Glu579Lys)
c.1672G>A (p.Glu558Lys)
c.1534G>A (p.Glu512Lys)
c.1429G>A (p.Glu477Lys)
c.1759G>A (p.Glu587Lys)
c.1756G>A (p.Glu586Lys)
c.1693G>A (p.Glu565Lys)
c.1648G>A (p.Glu550Lys)
c.1444G>A (p.Glu482Lys)
c.1744G>A (p.Glu582Lys)
c.1495G>A (p.Glu499Lys)
n.3905C>T
n.785G>A
 dbSNP gnomAD v2 gnomAD v4
5g.96762280G>CCA360484874CAST,ERAP1c.760G>C (p.Glu254Gln)
c.1690G>C (p.Glu564Gln)
c.1468G>C (p.Glu490Gln)
c.1297G>C (p.Glu433Gln)
c.1582G>C (p.Glu528Gln)
c.1774G>C (p.Glu592Gln)
c.1840G>C (p.Glu614Gln)
c.221G>C
c.1742G>C
c.*1464G>C (n.*1464G>C)
c.557G>C
c.1453G>C (p.Glu485Gln)
c.1510G>C (p.Glu504Gln)
c.1729G>C (p.Glu577Gln)
n.384G>C
c.1384G>C (p.Glu462Gln)
c.*920C>G (n.*920C>G)
c.1525G>C (p.Glu509Gln)
c.1552G>C (p.Glu518Gln)
c.1591G>C (p.Glu531Gln)
n.1533G>C
c.1717G>C (p.Glu573Gln)
c.846G>C
c.818G>C
c.1375G>C (p.Glu459Gln)
c.736G>C (p.Glu246Gln)
c.1486G>C (p.Glu496Gln)
c.76G>C (p.Glu26Gln)
c.863G>C
c.1549G>C (p.Glu517Gln)
n.847G>C
c.1801G>C (p.Glu601Gln)
c.1795G>C (p.Glu599Gln)
c.1783G>C (p.Glu595Gln)
c.1738G>C (p.Glu580Gln)
c.1735G>C (p.Glu579Gln)
c.1672G>C (p.Glu558Gln)
c.1534G>C (p.Glu512Gln)
c.1429G>C (p.Glu477Gln)
c.1759G>C (p.Glu587Gln)
c.1756G>C (p.Glu586Gln)
c.1693G>C (p.Glu565Gln)
c.1648G>C (p.Glu550Gln)
c.1444G>C (p.Glu482Gln)
c.1744G>C (p.Glu582Gln)
c.1495G>C (p.Glu499Gln)
n.3905C>G
n.785G>C
5g.96762280G=CA1565569267CAST,ERAP1c.760G= (p.Glu254=)
c.1690G= (p.Glu564=)
c.1468G= (p.Glu490=)
c.1297G= (p.Glu433=)
c.1582G= (p.Glu528=)
c.1774G= (p.Glu592=)
c.1840G= (p.Glu614=)
c.221G=
c.1742G=
c.*1464G= (n.*1464G=)
c.557G=
c.1453G= (p.Glu485=)
c.1510G= (p.Glu504=)
c.1729G= (p.Glu577=)
n.384G=
c.1384G= (p.Glu462=)
c.*920C= (n.*920C=)
c.1525G= (p.Glu509=)
c.1552G= (p.Glu518=)
c.1591G= (p.Glu531=)
n.1533G=
c.1717G= (p.Glu573=)
c.846G=
c.818G=
c.1375G= (p.Glu459=)
c.736G= (p.Glu246=)
c.1486G= (p.Glu496=)
c.76G= (p.Glu26=)
c.863G=
c.1549G= (p.Glu517=)
n.847G=
c.1801G= (p.Glu601=)
c.1795G= (p.Glu599=)
c.1783G= (p.Glu595=)
c.1738G= (p.Glu580=)
c.1735G= (p.Glu579=)
c.1672G= (p.Glu558=)
c.1534G= (p.Glu512=)
c.1429G= (p.Glu477=)
c.1759G= (p.Glu587=)
c.1756G= (p.Glu586=)
c.1693G= (p.Glu565=)
c.1648G= (p.Glu550=)
c.1444G= (p.Glu482=)
c.1744G= (p.Glu582=)
c.1495G= (p.Glu499=)
n.3905C=
n.785G=
5g.96762280G>TCA360484875CAST,ERAP1c.760G>T (p.Glu254Ter)
c.1690G>T (p.Glu564Ter)
c.1468G>T (p.Glu490Ter)
c.1297G>T (p.Glu433Ter)
c.1582G>T (p.Glu528Ter)
c.1774G>T (p.Glu592Ter)
c.1840G>T (p.Glu614Ter)
c.221G>T
c.1742G>T
c.*1464G>T (n.*1464G>T)
c.557G>T
c.1453G>T (p.Glu485Ter)
c.1510G>T (p.Glu504Ter)
c.1729G>T (p.Glu577Ter)
n.384G>T
c.1384G>T (p.Glu462Ter)
c.*920C>A (n.*920C>A)
c.1525G>T (p.Glu509Ter)
c.1552G>T (p.Glu518Ter)
c.1591G>T (p.Glu531Ter)
n.1533G>T
c.1717G>T (p.Glu573Ter)
c.846G>T
c.818G>T
c.1375G>T (p.Glu459Ter)
c.736G>T (p.Glu246Ter)
c.1486G>T (p.Glu496Ter)
c.76G>T (p.Glu26Ter)
c.863G>T
c.1549G>T (p.Glu517Ter)
n.847G>T
c.1801G>T (p.Glu601Ter)
c.1795G>T (p.Glu599Ter)
c.1783G>T (p.Glu595Ter)
c.1738G>T (p.Glu580Ter)
c.1735G>T (p.Glu579Ter)
c.1672G>T (p.Glu558Ter)
c.1534G>T (p.Glu512Ter)
c.1429G>T (p.Glu477Ter)
c.1759G>T (p.Glu587Ter)
c.1756G>T (p.Glu586Ter)
c.1693G>T (p.Glu565Ter)
c.1648G>T (p.Glu550Ter)
c.1444G>T (p.Glu482Ter)
c.1744G>T (p.Glu582Ter)
c.1495G>T (p.Glu499Ter)
n.3905C>A
n.785G>T
5g.96762281A>CCA360484876CAST,ERAP1c.761A>C (p.Glu254Ala)
c.1691A>C (p.Glu564Ala)
c.1469A>C (p.Glu490Ala)
c.1298A>C (p.Glu433Ala)
c.1583A>C (p.Glu528Ala)
c.1775A>C (p.Glu592Ala)
c.1841A>C (p.Glu614Ala)
c.222A>C
c.1743A>C
c.*1465A>C (n.*1465A>C)
c.558A>C
c.1454A>C (p.Glu485Ala)
c.1511A>C (p.Glu504Ala)
c.1730A>C (p.Glu577Ala)
n.385A>C
c.1385A>C (p.Glu462Ala)
c.*919T>G (n.*919T>G)
c.1526A>C (p.Glu509Ala)
c.1553A>C (p.Glu518Ala)
c.1592A>C (p.Glu531Ala)
n.1534A>C
c.1718A>C (p.Glu573Ala)
c.847A>C
c.819A>C
c.1376A>C (p.Glu459Ala)
c.737A>C (p.Glu246Ala)
c.1487A>C (p.Glu496Ala)
c.77A>C (p.Glu26Ala)
c.864A>C
c.1550A>C (p.Glu517Ala)
n.848A>C
c.1802A>C (p.Glu601Ala)
c.1796A>C (p.Glu599Ala)
c.1784A>C (p.Glu595Ala)
c.1739A>C (p.Glu580Ala)
c.1736A>C (p.Glu579Ala)
c.1673A>C (p.Glu558Ala)
c.1535A>C (p.Glu512Ala)
c.1430A>C (p.Glu477Ala)
c.1760A>C (p.Glu587Ala)
c.1757A>C (p.Glu586Ala)
c.1694A>C (p.Glu565Ala)
c.1649A>C (p.Glu550Ala)
c.1445A>C (p.Glu482Ala)
c.1745A>C (p.Glu582Ala)
c.1496A>C (p.Glu499Ala)
n.3904T>G
n.786A>C
5g.96762281A>GCA360484877CAST,ERAP1c.761A>G (p.Glu254Gly)
c.1691A>G (p.Glu564Gly)
c.1469A>G (p.Glu490Gly)
c.1298A>G (p.Glu433Gly)
c.1583A>G (p.Glu528Gly)
c.1775A>G (p.Glu592Gly)
c.1841A>G (p.Glu614Gly)
c.222A>G
c.1743A>G
c.*1465A>G (n.*1465A>G)
c.558A>G
c.1454A>G (p.Glu485Gly)
c.1511A>G (p.Glu504Gly)
c.1730A>G (p.Glu577Gly)
n.385A>G
c.1385A>G (p.Glu462Gly)
c.*919T>C (n.*919T>C)
c.1526A>G (p.Glu509Gly)
c.1553A>G (p.Glu518Gly)
c.1592A>G (p.Glu531Gly)
n.1534A>G
c.1718A>G (p.Glu573Gly)
c.847A>G
c.819A>G
c.1376A>G (p.Glu459Gly)
c.737A>G (p.Glu246Gly)
c.1487A>G (p.Glu496Gly)
c.77A>G (p.Glu26Gly)
c.864A>G
c.1550A>G (p.Glu517Gly)
n.848A>G
c.1802A>G (p.Glu601Gly)
c.1796A>G (p.Glu599Gly)
c.1784A>G (p.Glu595Gly)
c.1739A>G (p.Glu580Gly)
c.1736A>G (p.Glu579Gly)
c.1673A>G (p.Glu558Gly)
c.1535A>G (p.Glu512Gly)
c.1430A>G (p.Glu477Gly)
c.1760A>G (p.Glu587Gly)
c.1757A>G (p.Glu586Gly)
c.1694A>G (p.Glu565Gly)
c.1649A>G (p.Glu550Gly)
c.1445A>G (p.Glu482Gly)
c.1745A>G (p.Glu582Gly)
c.1496A>G (p.Glu499Gly)
n.3904T>C
n.786A>G
 gnomAD v4
5g.96762281A>TCA360484878CAST,ERAP1c.761A>T (p.Glu254Val)
c.1691A>T (p.Glu564Val)
c.1469A>T (p.Glu490Val)
c.1298A>T (p.Glu433Val)
c.1583A>T (p.Glu528Val)
c.1775A>T (p.Glu592Val)
c.1841A>T (p.Glu614Val)
c.222A>T
c.1743A>T
c.*1465A>T (n.*1465A>T)
c.558A>T
c.1454A>T (p.Glu485Val)
c.1511A>T (p.Glu504Val)
c.1730A>T (p.Glu577Val)
n.385A>T
c.1385A>T (p.Glu462Val)
c.*919T>A (n.*919T>A)
c.1526A>T (p.Glu509Val)
c.1553A>T (p.Glu518Val)
c.1592A>T (p.Glu531Val)
n.1534A>T
c.1718A>T (p.Glu573Val)
c.847A>T
c.819A>T
c.1376A>T (p.Glu459Val)
c.737A>T (p.Glu246Val)
c.1487A>T (p.Glu496Val)
c.77A>T (p.Glu26Val)
c.864A>T
c.1550A>T (p.Glu517Val)
n.848A>T
c.1802A>T (p.Glu601Val)
c.1796A>T (p.Glu599Val)
c.1784A>T (p.Glu595Val)
c.1739A>T (p.Glu580Val)
c.1736A>T (p.Glu579Val)
c.1673A>T (p.Glu558Val)
c.1535A>T (p.Glu512Val)
c.1430A>T (p.Glu477Val)
c.1760A>T (p.Glu587Val)
c.1757A>T (p.Glu586Val)
c.1694A>T (p.Glu565Val)
c.1649A>T (p.Glu550Val)
c.1445A>T (p.Glu482Val)
c.1745A>T (p.Glu582Val)
c.1496A>T (p.Glu499Val)
n.3904T>A
n.786A>T
5g.96762282A>CCA360484879CAST,ERAP1c.762A>C (p.Glu254Asp)
c.1692A>C (p.Glu564Asp)
c.1470A>C (p.Glu490Asp)
c.1299A>C (p.Glu433Asp)
c.1584A>C (p.Glu528Asp)
c.1776A>C (p.Glu592Asp)
c.1842A>C (p.Glu614Asp)
c.223A>C
c.1744A>C
c.*1466A>C (n.*1466A>C)
c.559A>C
c.1455A>C (p.Glu485Asp)
c.1512A>C (p.Glu504Asp)
c.1731A>C (p.Glu577Asp)
n.386A>C
c.1386A>C (p.Glu462Asp)
c.*918T>G (n.*918T>G)
c.1527A>C (p.Glu509Asp)
c.1554A>C (p.Glu518Asp)
c.1593A>C (p.Glu531Asp)
n.1535A>C
c.1719A>C (p.Glu573Asp)
c.848A>C
c.820A>C
c.1377A>C (p.Glu459Asp)
c.738A>C (p.Glu246Asp)
c.1488A>C (p.Glu496Asp)
c.78A>C (p.Glu26Asp)
c.865A>C
c.1551A>C (p.Glu517Asp)
n.849A>C
c.1803A>C (p.Glu601Asp)
c.1797A>C (p.Glu599Asp)
c.1785A>C (p.Glu595Asp)
c.1740A>C (p.Glu580Asp)
c.1737A>C (p.Glu579Asp)
c.1674A>C (p.Glu558Asp)
c.1536A>C (p.Glu512Asp)
c.1431A>C (p.Glu477Asp)
c.1761A>C (p.Glu587Asp)
c.1758A>C (p.Glu586Asp)
c.1695A>C (p.Glu565Asp)
c.1650A>C (p.Glu550Asp)
c.1446A>C (p.Glu482Asp)
c.1746A>C (p.Glu582Asp)
c.1497A>C (p.Glu499Asp)
n.3903T>G
n.787A>C
5g.96762282A>GCA445510856CAST,ERAP1c.762A>G (p.Glu254=)
c.1692A>G (p.Glu564=)
c.1470A>G (p.Glu490=)
c.1299A>G (p.Glu433=)
c.1584A>G (p.Glu528=)
c.1776A>G (p.Glu592=)
c.1842A>G (p.Glu614=)
c.223A>G
c.1744A>G
c.*1466A>G (n.*1466A>G)
c.559A>G
c.1455A>G (p.Glu485=)
c.1512A>G (p.Glu504=)
c.1731A>G (p.Glu577=)
n.386A>G
c.1386A>G (p.Glu462=)
c.*918T>C (n.*918T>C)
c.1527A>G (p.Glu509=)
c.1554A>G (p.Glu518=)
c.1593A>G (p.Glu531=)
n.1535A>G
c.1719A>G (p.Glu573=)
c.848A>G
c.820A>G
c.1377A>G (p.Glu459=)
c.738A>G (p.Glu246=)
c.1488A>G (p.Glu496=)
c.78A>G (p.Glu26=)
c.865A>G
c.1551A>G (p.Glu517=)
n.849A>G
c.1803A>G (p.Glu601=)
c.1797A>G (p.Glu599=)
c.1785A>G (p.Glu595=)
c.1740A>G (p.Glu580=)
c.1737A>G (p.Glu579=)
c.1674A>G (p.Glu558=)
c.1536A>G (p.Glu512=)
c.1431A>G (p.Glu477=)
c.1761A>G (p.Glu587=)
c.1758A>G (p.Glu586=)
c.1695A>G (p.Glu565=)
c.1650A>G (p.Glu550=)
c.1446A>G (p.Glu482=)
c.1746A>G (p.Glu582=)
c.1497A>G (p.Glu499=)
n.3903T>C
n.787A>G
5g.96762282A>TCA360484880CAST,ERAP1c.762A>T (p.Glu254Asp)
c.1692A>T (p.Glu564Asp)
c.1470A>T (p.Glu490Asp)
c.1299A>T (p.Glu433Asp)
c.1584A>T (p.Glu528Asp)
c.1776A>T (p.Glu592Asp)
c.1842A>T (p.Glu614Asp)
c.223A>T
c.1744A>T
c.*1466A>T (n.*1466A>T)
c.559A>T
c.1455A>T (p.Glu485Asp)
c.1512A>T (p.Glu504Asp)
c.1731A>T (p.Glu577Asp)
n.386A>T
c.1386A>T (p.Glu462Asp)
c.*918T>A (n.*918T>A)
c.1527A>T (p.Glu509Asp)
c.1554A>T (p.Glu518Asp)
c.1593A>T (p.Glu531Asp)
n.1535A>T
c.1719A>T (p.Glu573Asp)
c.848A>T
c.820A>T
c.1377A>T (p.Glu459Asp)
c.738A>T (p.Glu246Asp)
c.1488A>T (p.Glu496Asp)
c.78A>T (p.Glu26Asp)
c.865A>T
c.1551A>T (p.Glu517Asp)
n.849A>T
c.1803A>T (p.Glu601Asp)
c.1797A>T (p.Glu599Asp)
c.1785A>T (p.Glu595Asp)
c.1740A>T (p.Glu580Asp)
c.1737A>T (p.Glu579Asp)
c.1674A>T (p.Glu558Asp)
c.1536A>T (p.Glu512Asp)
c.1431A>T (p.Glu477Asp)
c.1761A>T (p.Glu587Asp)
c.1758A>T (p.Glu586Asp)
c.1695A>T (p.Glu565Asp)
c.1650A>T (p.Glu550Asp)
c.1446A>T (p.Glu482Asp)
c.1746A>T (p.Glu582Asp)
c.1497A>T (p.Glu499Asp)
n.3903T>A
n.787A>T
5g.96762283G>ACA360484882CAST,ERAP1c.763G>A (p.Asp255Asn)
c.1693G>A (p.Asp565Asn)
c.1471G>A (p.Asp491Asn)
c.1300G>A (p.Asp434Asn)
c.1585G>A (p.Asp529Asn)
c.1777G>A (p.Asp593Asn)
c.1843G>A (p.Asp615Asn)
c.224G>A
c.1745G>A
c.*1467G>A (n.*1467G>A)
c.560G>A
c.1456G>A (p.Asp486Asn)
c.1513G>A (p.Asp505Asn)
c.1732G>A (p.Asp578Asn)
n.387G>A
c.1387G>A (p.Asp463Asn)
c.*917C>T (n.*917C>T)
c.1528G>A (p.Asp510Asn)
c.1555G>A (p.Asp519Asn)
c.1594G>A (p.Asp532Asn)
n.1536G>A
c.1720G>A (p.Asp574Asn)
c.849G>A
c.821G>A
c.1378G>A (p.Asp460Asn)
c.739G>A (p.Asp247Asn)
c.1489G>A (p.Asp497Asn)
c.79G>A (p.Asp27Asn)
c.866G>A
c.1552G>A (p.Asp518Asn)
n.850G>A
c.1804G>A (p.Asp602Asn)
c.1798G>A (p.Asp600Asn)
c.1786G>A (p.Asp596Asn)
c.1741G>A (p.Asp581Asn)
c.1738G>A (p.Asp580Asn)
c.1675G>A (p.Asp559Asn)
c.1537G>A (p.Asp513Asn)
c.1432G>A (p.Asp478Asn)
c.1762G>A (p.Asp588Asn)
c.1759G>A (p.Asp587Asn)
c.1696G>A (p.Asp566Asn)
c.1651G>A (p.Asp551Asn)
c.1447G>A (p.Asp483Asn)
c.1747G>A (p.Asp583Asn)
c.1498G>A (p.Asp500Asn)
n.3902C>T
n.788G>A
5g.96762283G>CCA3351499CAST,ERAP1c.763G>C (p.Asp255His)
c.1693G>C (p.Asp565His)
c.1471G>C (p.Asp491His)
c.1300G>C (p.Asp434His)
c.1585G>C (p.Asp529His)
c.1777G>C (p.Asp593His)
c.1843G>C (p.Asp615His)
c.224G>C
c.1745G>C
c.*1467G>C (n.*1467G>C)
c.560G>C
c.1456G>C (p.Asp486His)
c.1513G>C (p.Asp505His)
c.1732G>C (p.Asp578His)
n.387G>C
c.1387G>C (p.Asp463His)
c.*917C>G (n.*917C>G)
c.1528G>C (p.Asp510His)
c.1555G>C (p.Asp519His)
c.1594G>C (p.Asp532His)
n.1536G>C
c.1720G>C (p.Asp574His)
c.849G>C
c.821G>C
c.1378G>C (p.Asp460His)
c.739G>C (p.Asp247His)
c.1489G>C (p.Asp497His)
c.79G>C (p.Asp27His)
c.866G>C
c.1552G>C (p.Asp518His)
n.850G>C
c.1804G>C (p.Asp602His)
c.1798G>C (p.Asp600His)
c.1786G>C (p.Asp596His)
c.1741G>C (p.Asp581His)
c.1738G>C (p.Asp580His)
c.1675G>C (p.Asp559His)
c.1537G>C (p.Asp513His)
c.1432G>C (p.Asp478His)
c.1762G>C (p.Asp588His)
c.1759G>C (p.Asp587His)
c.1696G>C (p.Asp566His)
c.1651G>C (p.Asp551His)
c.1447G>C (p.Asp483His)
c.1747G>C (p.Asp583His)
c.1498G>C (p.Asp500His)
n.3902C>G
n.788G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762283G=CA1565569268CAST,ERAP1c.763G= (p.Asp255=)
c.1693G= (p.Asp565=)
c.1471G= (p.Asp491=)
c.1300G= (p.Asp434=)
c.1585G= (p.Asp529=)
c.1777G= (p.Asp593=)
c.1843G= (p.Asp615=)
c.224G=
c.1745G=
c.*1467G= (n.*1467G=)
c.560G=
c.1456G= (p.Asp486=)
c.1513G= (p.Asp505=)
c.1732G= (p.Asp578=)
n.387G=
c.1387G= (p.Asp463=)
c.*917C= (n.*917C=)
c.1528G= (p.Asp510=)
c.1555G= (p.Asp519=)
c.1594G= (p.Asp532=)
n.1536G=
c.1720G= (p.Asp574=)
c.849G=
c.821G=
c.1378G= (p.Asp460=)
c.739G= (p.Asp247=)
c.1489G= (p.Asp497=)
c.79G= (p.Asp27=)
c.866G=
c.1552G= (p.Asp518=)
n.850G=
c.1804G= (p.Asp602=)
c.1798G= (p.Asp600=)
c.1786G= (p.Asp596=)
c.1741G= (p.Asp581=)
c.1738G= (p.Asp580=)
c.1675G= (p.Asp559=)
c.1537G= (p.Asp513=)
c.1432G= (p.Asp478=)
c.1762G= (p.Asp588=)
c.1759G= (p.Asp587=)
c.1696G= (p.Asp566=)
c.1651G= (p.Asp551=)
c.1447G= (p.Asp483=)
c.1747G= (p.Asp583=)
c.1498G= (p.Asp500=)
n.3902C=
n.788G=
5g.96762283G>TCA360484881CAST,ERAP1c.763G>T (p.Asp255Tyr)
c.1693G>T (p.Asp565Tyr)
c.1471G>T (p.Asp491Tyr)
c.1300G>T (p.Asp434Tyr)
c.1585G>T (p.Asp529Tyr)
c.1777G>T (p.Asp593Tyr)
c.1843G>T (p.Asp615Tyr)
c.224G>T
c.1745G>T
c.*1467G>T (n.*1467G>T)
c.560G>T
c.1456G>T (p.Asp486Tyr)
c.1513G>T (p.Asp505Tyr)
c.1732G>T (p.Asp578Tyr)
n.387G>T
c.1387G>T (p.Asp463Tyr)
c.*917C>A (n.*917C>A)
c.1528G>T (p.Asp510Tyr)
c.1555G>T (p.Asp519Tyr)
c.1594G>T (p.Asp532Tyr)
n.1536G>T
c.1720G>T (p.Asp574Tyr)
c.849G>T
c.821G>T
c.1378G>T (p.Asp460Tyr)
c.739G>T (p.Asp247Tyr)
c.1489G>T (p.Asp497Tyr)
c.79G>T (p.Asp27Tyr)
c.866G>T
c.1552G>T (p.Asp518Tyr)
n.850G>T
c.1804G>T (p.Asp602Tyr)
c.1798G>T (p.Asp600Tyr)
c.1786G>T (p.Asp596Tyr)
c.1741G>T (p.Asp581Tyr)
c.1738G>T (p.Asp580Tyr)
c.1675G>T (p.Asp559Tyr)
c.1537G>T (p.Asp513Tyr)
c.1432G>T (p.Asp478Tyr)
c.1762G>T (p.Asp588Tyr)
c.1759G>T (p.Asp587Tyr)
c.1696G>T (p.Asp566Tyr)
c.1651G>T (p.Asp551Tyr)
c.1447G>T (p.Asp483Tyr)
c.1747G>T (p.Asp583Tyr)
c.1498G>T (p.Asp500Tyr)
n.3902C>A
n.788G>T
5g.96762284A=CA1565569269CAST,ERAP1c.764A= (p.Asp255=)
c.1694A= (p.Asp565=)
c.1472A= (p.Asp491=)
c.1301A= (p.Asp434=)
c.1586A= (p.Asp529=)
c.1778A= (p.Asp593=)
c.1844A= (p.Asp615=)
c.225A=
c.1746A=
c.*1468A= (n.*1468A=)
c.561A=
c.1457A= (p.Asp486=)
c.1514A= (p.Asp505=)
c.1733A= (p.Asp578=)
n.388A=
c.1388A= (p.Asp463=)
c.*916T= (n.*916T=)
c.1529A= (p.Asp510=)
c.1556A= (p.Asp519=)
c.1595A= (p.Asp532=)
n.1537A=
c.1721A= (p.Asp574=)
c.850A=
c.822A=
c.1379A= (p.Asp460=)
c.740A= (p.Asp247=)
c.1490A= (p.Asp497=)
c.80A= (p.Asp27=)
c.867A=
c.1553A= (p.Asp518=)
n.851A=
c.1805A= (p.Asp602=)
c.1799A= (p.Asp600=)
c.1787A= (p.Asp596=)
c.1742A= (p.Asp581=)
c.1739A= (p.Asp580=)
c.1676A= (p.Asp559=)
c.1538A= (p.Asp513=)
c.1433A= (p.Asp478=)
c.1763A= (p.Asp588=)
c.1760A= (p.Asp587=)
c.1697A= (p.Asp566=)
c.1652A= (p.Asp551=)
c.1448A= (p.Asp483=)
c.1748A= (p.Asp583=)
c.1499A= (p.Asp500=)
n.3901T=
n.789A=
5g.96762284A>CCA360484883CAST,ERAP1c.764A>C (p.Asp255Ala)
c.1694A>C (p.Asp565Ala)
c.1472A>C (p.Asp491Ala)
c.1301A>C (p.Asp434Ala)
c.1586A>C (p.Asp529Ala)
c.1778A>C (p.Asp593Ala)
c.1844A>C (p.Asp615Ala)
c.225A>C
c.1746A>C
c.*1468A>C (n.*1468A>C)
c.561A>C
c.1457A>C (p.Asp486Ala)
c.1514A>C (p.Asp505Ala)
c.1733A>C (p.Asp578Ala)
n.388A>C
c.1388A>C (p.Asp463Ala)
c.*916T>G (n.*916T>G)
c.1529A>C (p.Asp510Ala)
c.1556A>C (p.Asp519Ala)
c.1595A>C (p.Asp532Ala)
n.1537A>C
c.1721A>C (p.Asp574Ala)
c.850A>C
c.822A>C
c.1379A>C (p.Asp460Ala)
c.740A>C (p.Asp247Ala)
c.1490A>C (p.Asp497Ala)
c.80A>C (p.Asp27Ala)
c.867A>C
c.1553A>C (p.Asp518Ala)
n.851A>C
c.1805A>C (p.Asp602Ala)
c.1799A>C (p.Asp600Ala)
c.1787A>C (p.Asp596Ala)
c.1742A>C (p.Asp581Ala)
c.1739A>C (p.Asp580Ala)
c.1676A>C (p.Asp559Ala)
c.1538A>C (p.Asp513Ala)
c.1433A>C (p.Asp478Ala)
c.1763A>C (p.Asp588Ala)
c.1760A>C (p.Asp587Ala)
c.1697A>C (p.Asp566Ala)
c.1652A>C (p.Asp551Ala)
c.1448A>C (p.Asp483Ala)
c.1748A>C (p.Asp583Ala)
c.1499A>C (p.Asp500Ala)
n.3901T>G
n.789A>C
 dbSNP gnomAD v4
5g.96762284A>GCA360484884CAST,ERAP1c.764A>G (p.Asp255Gly)
c.1694A>G (p.Asp565Gly)
c.1472A>G (p.Asp491Gly)
c.1301A>G (p.Asp434Gly)
c.1586A>G (p.Asp529Gly)
c.1778A>G (p.Asp593Gly)
c.1844A>G (p.Asp615Gly)
c.225A>G
c.1746A>G
c.*1468A>G (n.*1468A>G)
c.561A>G
c.1457A>G (p.Asp486Gly)
c.1514A>G (p.Asp505Gly)
c.1733A>G (p.Asp578Gly)
n.388A>G
c.1388A>G (p.Asp463Gly)
c.*916T>C (n.*916T>C)
c.1529A>G (p.Asp510Gly)
c.1556A>G (p.Asp519Gly)
c.1595A>G (p.Asp532Gly)
n.1537A>G
c.1721A>G (p.Asp574Gly)
c.850A>G
c.822A>G
c.1379A>G (p.Asp460Gly)
c.740A>G (p.Asp247Gly)
c.1490A>G (p.Asp497Gly)
c.80A>G (p.Asp27Gly)
c.867A>G
c.1553A>G (p.Asp518Gly)
n.851A>G
c.1805A>G (p.Asp602Gly)
c.1799A>G (p.Asp600Gly)
c.1787A>G (p.Asp596Gly)
c.1742A>G (p.Asp581Gly)
c.1739A>G (p.Asp580Gly)
c.1676A>G (p.Asp559Gly)
c.1538A>G (p.Asp513Gly)
c.1433A>G (p.Asp478Gly)
c.1763A>G (p.Asp588Gly)
c.1760A>G (p.Asp587Gly)
c.1697A>G (p.Asp566Gly)
c.1652A>G (p.Asp551Gly)
c.1448A>G (p.Asp483Gly)
c.1748A>G (p.Asp583Gly)
c.1499A>G (p.Asp500Gly)
n.3901T>C
n.789A>G
5g.96762284A>TCA360484885CAST,ERAP1c.764A>T (p.Asp255Val)
c.1694A>T (p.Asp565Val)
c.1472A>T (p.Asp491Val)
c.1301A>T (p.Asp434Val)
c.1586A>T (p.Asp529Val)
c.1778A>T (p.Asp593Val)
c.1844A>T (p.Asp615Val)
c.225A>T
c.1746A>T
c.*1468A>T (n.*1468A>T)
c.561A>T
c.1457A>T (p.Asp486Val)
c.1514A>T (p.Asp505Val)
c.1733A>T (p.Asp578Val)
n.388A>T
c.1388A>T (p.Asp463Val)
c.*916T>A (n.*916T>A)
c.1529A>T (p.Asp510Val)
c.1556A>T (p.Asp519Val)
c.1595A>T (p.Asp532Val)
n.1537A>T
c.1721A>T (p.Asp574Val)
c.850A>T
c.822A>T
c.1379A>T (p.Asp460Val)
c.740A>T (p.Asp247Val)
c.1490A>T (p.Asp497Val)
c.80A>T (p.Asp27Val)
c.867A>T
c.1553A>T (p.Asp518Val)
n.851A>T
c.1805A>T (p.Asp602Val)
c.1799A>T (p.Asp600Val)
c.1787A>T (p.Asp596Val)
c.1742A>T (p.Asp581Val)
c.1739A>T (p.Asp580Val)
c.1676A>T (p.Asp559Val)
c.1538A>T (p.Asp513Val)
c.1433A>T (p.Asp478Val)
c.1763A>T (p.Asp588Val)
c.1760A>T (p.Asp587Val)
c.1697A>T (p.Asp566Val)
c.1652A>T (p.Asp551Val)
c.1448A>T (p.Asp483Val)
c.1748A>T (p.Asp583Val)
c.1499A>T (p.Asp500Val)
n.3901T>A
n.789A>T
5g.96762284_96762296delinsATGCTAAACTTGCCA1565569270CAST,ERAP1c.764_776delinsATGCTAAACTTGC (p.Asp255=)
c.1694_1706delinsATGCTAAACTTGC (p.Asp565=)
c.1472_1484delinsATGCTAAACTTGC (p.Asp491=)
c.1301_1313delinsATGCTAAACTTGC (p.Asp434=)
c.1586_1598delinsATGCTAAACTTGC (p.Asp529=)
c.1778_1790delinsATGCTAAACTTGC (p.Asp593=)
c.1844_1856delinsATGCTAAACTTGC (p.Asp615=)
c.225_237delinsATGCTAAACTTGC
c.1746_1758delinsATGCTAAACTTGC
c.*1468_*1480delinsATGCTAAACTTGC (n.*1468_*1480delinsATGCTAAACTTGC)
c.561_573delinsATGCTAAACTTGC
c.1457_1469delinsATGCTAAACTTGC (p.Asp486=)
c.1514_1526delinsATGCTAAACTTGC (p.Asp505=)
c.1733_1745delinsATGCTAAACTTGC (p.Asp578=)
n.388_400delinsATGCTAAACTTGC
c.1388_1400delinsATGCTAAACTTGC (p.Asp463=)
c.*904_*916delinsGCAAGTTTAGCAT (n.*904_*916delinsGCAAGTTTAGCAT)
c.1529_1541delinsATGCTAAACTTGC (p.Asp510=)
c.1556_1568delinsATGCTAAACTTGC (p.Asp519=)
c.1595_1607delinsATGCTAAACTTGC (p.Asp532=)
n.1537_1549delinsATGCTAAACTTGC
c.1721_1733delinsATGCTAAACTTGC (p.Asp574=)
c.850_862delinsATGCTAAACTTGC
c.822_834delinsATGCTAAACTTGC
c.1379_1391delinsATGCTAAACTTGC (p.Asp460=)
c.740_752delinsATGCTAAACTTGC (p.Asp247=)
c.1490_1502delinsATGCTAAACTTGC (p.Asp497=)
c.80_92delinsATGCTAAACTTGC (p.Asp27=)
c.867_879delinsATGCTAAACTTGC
c.1553_1565delinsATGCTAAACTTGC (p.Asp518=)
n.851_863delinsATGCTAAACTTGC
c.1805_1817delinsATGCTAAACTTGC (p.Asp602=)
c.1799_1811delinsATGCTAAACTTGC (p.Asp600=)
c.1787_1799delinsATGCTAAACTTGC (p.Asp596=)
c.1742_1754delinsATGCTAAACTTGC (p.Asp581=)
c.1739_1751delinsATGCTAAACTTGC (p.Asp580=)
c.1676_1688delinsATGCTAAACTTGC (p.Asp559=)
c.1538_1550delinsATGCTAAACTTGC (p.Asp513=)
c.1433_1445delinsATGCTAAACTTGC (p.Asp478=)
c.1763_1775delinsATGCTAAACTTGC (p.Asp588=)
c.1760_1772delinsATGCTAAACTTGC (p.Asp587=)
c.1697_1709delinsATGCTAAACTTGC (p.Asp566=)
c.1652_1664delinsATGCTAAACTTGC (p.Asp551=)
c.1448_1460delinsATGCTAAACTTGC (p.Asp483=)
c.1748_1760delinsATGCTAAACTTGC (p.Asp583=)
c.1499_1511delinsATGCTAAACTTGC (p.Asp500=)
n.3889_3901delinsGCAAGTTTAGCAT
n.789_801delinsATGCTAAACTTGC
5g.96762285T>ACA360484886CAST,ERAP1c.765T>A (p.Asp255Glu)
c.1695T>A (p.Asp565Glu)
c.1473T>A (p.Asp491Glu)
c.1302T>A (p.Asp434Glu)
c.1587T>A (p.Asp529Glu)
c.1779T>A (p.Asp593Glu)
c.1845T>A (p.Asp615Glu)
c.226T>A
c.1747T>A
c.*1469T>A (n.*1469T>A)
c.562T>A
c.1458T>A (p.Asp486Glu)
c.1515T>A (p.Asp505Glu)
c.1734T>A (p.Asp578Glu)
n.389T>A
c.1389T>A (p.Asp463Glu)
c.*915A>T (n.*915A>T)
c.1530T>A (p.Asp510Glu)
c.1557T>A (p.Asp519Glu)
c.1596T>A (p.Asp532Glu)
n.1538T>A
c.1722T>A (p.Asp574Glu)
c.851T>A
c.823T>A
c.1380T>A (p.Asp460Glu)
c.741T>A (p.Asp247Glu)
c.1491T>A (p.Asp497Glu)
c.81T>A (p.Asp27Glu)
c.868T>A
c.1554T>A (p.Asp518Glu)
n.852T>A
c.1806T>A (p.Asp602Glu)
c.1800T>A (p.Asp600Glu)
c.1788T>A (p.Asp596Glu)
c.1743T>A (p.Asp581Glu)
c.1740T>A (p.Asp580Glu)
c.1677T>A (p.Asp559Glu)
c.1539T>A (p.Asp513Glu)
c.1434T>A (p.Asp478Glu)
c.1764T>A (p.Asp588Glu)
c.1761T>A (p.Asp587Glu)
c.1698T>A (p.Asp566Glu)
c.1653T>A (p.Asp551Glu)
c.1449T>A (p.Asp483Glu)
c.1749T>A (p.Asp583Glu)
c.1500T>A (p.Asp500Glu)
n.3900A>T
n.790T>A
5g.96762285T>CCA445510863CAST,ERAP1c.765T>C (p.Asp255=)
c.1695T>C (p.Asp565=)
c.1473T>C (p.Asp491=)
c.1302T>C (p.Asp434=)
c.1587T>C (p.Asp529=)
c.1779T>C (p.Asp593=)
c.1845T>C (p.Asp615=)
c.226T>C
c.1747T>C
c.*1469T>C (n.*1469T>C)
c.562T>C
c.1458T>C (p.Asp486=)
c.1515T>C (p.Asp505=)
c.1734T>C (p.Asp578=)
n.389T>C
c.1389T>C (p.Asp463=)
c.*915A>G (n.*915A>G)
c.1530T>C (p.Asp510=)
c.1557T>C (p.Asp519=)
c.1596T>C (p.Asp532=)
n.1538T>C
c.1722T>C (p.Asp574=)
c.851T>C
c.823T>C
c.1380T>C (p.Asp460=)
c.741T>C (p.Asp247=)
c.1491T>C (p.Asp497=)
c.81T>C (p.Asp27=)
c.868T>C
c.1554T>C (p.Asp518=)
n.852T>C
c.1806T>C (p.Asp602=)
c.1800T>C (p.Asp600=)
c.1788T>C (p.Asp596=)
c.1743T>C (p.Asp581=)
c.1740T>C (p.Asp580=)
c.1677T>C (p.Asp559=)
c.1539T>C (p.Asp513=)
c.1434T>C (p.Asp478=)
c.1764T>C (p.Asp588=)
c.1761T>C (p.Asp587=)
c.1698T>C (p.Asp566=)
c.1653T>C (p.Asp551=)
c.1449T>C (p.Asp483=)
c.1749T>C (p.Asp583=)
c.1500T>C (p.Asp500=)
n.3900A>G
n.790T>C
5g.96762285T>GCA360484887CAST,ERAP1c.765T>G (p.Asp255Glu)
c.1695T>G (p.Asp565Glu)
c.1473T>G (p.Asp491Glu)
c.1302T>G (p.Asp434Glu)
c.1587T>G (p.Asp529Glu)
c.1779T>G (p.Asp593Glu)
c.1845T>G (p.Asp615Glu)
c.226T>G
c.1747T>G
c.*1469T>G (n.*1469T>G)
c.562T>G
c.1458T>G (p.Asp486Glu)
c.1515T>G (p.Asp505Glu)
c.1734T>G (p.Asp578Glu)
n.389T>G
c.1389T>G (p.Asp463Glu)
c.*915A>C (n.*915A>C)
c.1530T>G (p.Asp510Glu)
c.1557T>G (p.Asp519Glu)
c.1596T>G (p.Asp532Glu)
n.1538T>G
c.1722T>G (p.Asp574Glu)
c.851T>G
c.823T>G
c.1380T>G (p.Asp460Glu)
c.741T>G (p.Asp247Glu)
c.1491T>G (p.Asp497Glu)
c.81T>G (p.Asp27Glu)
c.868T>G
c.1554T>G (p.Asp518Glu)
n.852T>G
c.1806T>G (p.Asp602Glu)
c.1800T>G (p.Asp600Glu)
c.1788T>G (p.Asp596Glu)
c.1743T>G (p.Asp581Glu)
c.1740T>G (p.Asp580Glu)
c.1677T>G (p.Asp559Glu)
c.1539T>G (p.Asp513Glu)
c.1434T>G (p.Asp478Glu)
c.1764T>G (p.Asp588Glu)
c.1761T>G (p.Asp587Glu)
c.1698T>G (p.Asp566Glu)
c.1653T>G (p.Asp551Glu)
c.1449T>G (p.Asp483Glu)
c.1749T>G (p.Asp583Glu)
c.1500T>G (p.Asp500Glu)
n.3900A>C
n.790T>G
5g.96762289_96762300delCA3351500CAST,ERAP1c.769_780del (p.Lys257_Ala260del)
c.1699_1710del (p.Lys567_Ala570del)
c.1477_1488del (p.Lys493_Ala496del)
c.1306_1317del (p.Lys436_Ala439del)
c.1591_1602del (p.Lys531_Ala534del)
c.1783_1794del (p.Lys595_Ala598del)
c.1849_1860del (p.Lys617_Ala620del)
c.230_241del
c.1751_1762del
c.*1473_*1484del (n.*1473_*1484del)
c.566_577del
c.1462_1473del (p.Lys488_Ala491del)
c.1519_1530del (p.Lys507_Ala510del)
c.1738_1749del (p.Lys580_Ala583del)
n.393_404del
c.1393_1404del (p.Lys465_Ala468del)
c.*904_*915del (n.*904_*915del)
c.1534_1545del (p.Lys512_Ala515del)
c.1561_1572del (p.Lys521_Ala524del)
c.1600_1611del (p.Lys534_Ala537del)
n.1542_1553del
c.1726_1737del (p.Lys576_Ala579del)
c.855_866del
c.827_838del
c.1384_1395del (p.Lys462_Ala465del)
c.745_756del (p.Lys249_Ala252del)
c.1495_1506del (p.Lys499_Ala502del)
c.85_96del (p.Lys29_Ala32del)
c.872_883del
c.1558_1569del (p.Lys520_Ala523del)
n.856_867del
c.1810_1821del (p.Lys604_Ala607del)
c.1804_1815del (p.Lys602_Ala605del)
c.1792_1803del (p.Lys598_Ala601del)
c.1747_1758del (p.Lys583_Ala586del)
c.1744_1755del (p.Lys582_Ala585del)
c.1681_1692del (p.Lys561_Ala564del)
c.1543_1554del (p.Lys515_Ala518del)
c.1438_1449del (p.Lys480_Ala483del)
c.1768_1779del (p.Lys590_Ala593del)
c.1765_1776del (p.Lys589_Ala592del)
c.1702_1713del (p.Lys568_Ala571del)
c.1657_1668del (p.Lys553_Ala556del)
c.1453_1464del (p.Lys485_Ala488del)
c.1753_1764del (p.Lys585_Ala588del)
c.1504_1515del (p.Lys502_Ala505del)
n.3889_3900del
n.794_805del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762286G>ACA360484888CAST,ERAP1c.766G>A (p.Ala256Thr)
c.1696G>A (p.Ala566Thr)
c.1474G>A (p.Ala492Thr)
c.1303G>A (p.Ala435Thr)
c.1588G>A (p.Ala530Thr)
c.1780G>A (p.Ala594Thr)
c.1846G>A (p.Ala616Thr)
c.227G>A
c.1748G>A
c.*1470G>A (n.*1470G>A)
c.563G>A
c.1459G>A (p.Ala487Thr)
c.1516G>A (p.Ala506Thr)
c.1735G>A (p.Ala579Thr)
n.390G>A
c.1390G>A (p.Ala464Thr)
c.*914C>T (n.*914C>T)
c.1531G>A (p.Ala511Thr)
c.1558G>A (p.Ala520Thr)
c.1597G>A (p.Ala533Thr)
n.1539G>A
c.1723G>A (p.Ala575Thr)
c.852G>A
c.824G>A
c.1381G>A (p.Ala461Thr)
c.742G>A (p.Ala248Thr)
c.1492G>A (p.Ala498Thr)
c.82G>A (p.Ala28Thr)
c.869G>A
c.1555G>A (p.Ala519Thr)
n.853G>A
c.1807G>A (p.Ala603Thr)
c.1801G>A (p.Ala601Thr)
c.1789G>A (p.Ala597Thr)
c.1744G>A (p.Ala582Thr)
c.1741G>A (p.Ala581Thr)
c.1678G>A (p.Ala560Thr)
c.1540G>A (p.Ala514Thr)
c.1435G>A (p.Ala479Thr)
c.1765G>A (p.Ala589Thr)
c.1762G>A (p.Ala588Thr)
c.1699G>A (p.Ala567Thr)
c.1654G>A (p.Ala552Thr)
c.1450G>A (p.Ala484Thr)
c.1750G>A (p.Ala584Thr)
c.1501G>A (p.Ala501Thr)
n.3899C>T
n.791G>A
5g.96762286G>CCA360484889CAST,ERAP1c.766G>C (p.Ala256Pro)
c.1696G>C (p.Ala566Pro)
c.1474G>C (p.Ala492Pro)
c.1303G>C (p.Ala435Pro)
c.1588G>C (p.Ala530Pro)
c.1780G>C (p.Ala594Pro)
c.1846G>C (p.Ala616Pro)
c.227G>C
c.1748G>C
c.*1470G>C (n.*1470G>C)
c.563G>C
c.1459G>C (p.Ala487Pro)
c.1516G>C (p.Ala506Pro)
c.1735G>C (p.Ala579Pro)
n.390G>C
c.1390G>C (p.Ala464Pro)
c.*914C>G (n.*914C>G)
c.1531G>C (p.Ala511Pro)
c.1558G>C (p.Ala520Pro)
c.1597G>C (p.Ala533Pro)
n.1539G>C
c.1723G>C (p.Ala575Pro)
c.852G>C
c.824G>C
c.1381G>C (p.Ala461Pro)
c.742G>C (p.Ala248Pro)
c.1492G>C (p.Ala498Pro)
c.82G>C (p.Ala28Pro)
c.869G>C
c.1555G>C (p.Ala519Pro)
n.853G>C
c.1807G>C (p.Ala603Pro)
c.1801G>C (p.Ala601Pro)
c.1789G>C (p.Ala597Pro)
c.1744G>C (p.Ala582Pro)
c.1741G>C (p.Ala581Pro)
c.1678G>C (p.Ala560Pro)
c.1540G>C (p.Ala514Pro)
c.1435G>C (p.Ala479Pro)
c.1765G>C (p.Ala589Pro)
c.1762G>C (p.Ala588Pro)
c.1699G>C (p.Ala567Pro)
c.1654G>C (p.Ala552Pro)
c.1450G>C (p.Ala484Pro)
c.1750G>C (p.Ala584Pro)
c.1501G>C (p.Ala501Pro)
n.3899C>G
n.791G>C
5g.96762286G>TCA360484890CAST,ERAP1c.766G>T (p.Ala256Ser)
c.1696G>T (p.Ala566Ser)
c.1474G>T (p.Ala492Ser)
c.1303G>T (p.Ala435Ser)
c.1588G>T (p.Ala530Ser)
c.1780G>T (p.Ala594Ser)
c.1846G>T (p.Ala616Ser)
c.227G>T
c.1748G>T
c.*1470G>T (n.*1470G>T)
c.563G>T
c.1459G>T (p.Ala487Ser)
c.1516G>T (p.Ala506Ser)
c.1735G>T (p.Ala579Ser)
n.390G>T
c.1390G>T (p.Ala464Ser)
c.*914C>A (n.*914C>A)
c.1531G>T (p.Ala511Ser)
c.1558G>T (p.Ala520Ser)
c.1597G>T (p.Ala533Ser)
n.1539G>T
c.1723G>T (p.Ala575Ser)
c.852G>T
c.824G>T
c.1381G>T (p.Ala461Ser)
c.742G>T (p.Ala248Ser)
c.1492G>T (p.Ala498Ser)
c.82G>T (p.Ala28Ser)
c.869G>T
c.1555G>T (p.Ala519Ser)
n.853G>T
c.1807G>T (p.Ala603Ser)
c.1801G>T (p.Ala601Ser)
c.1789G>T (p.Ala597Ser)
c.1744G>T (p.Ala582Ser)
c.1741G>T (p.Ala581Ser)
c.1678G>T (p.Ala560Ser)
c.1540G>T (p.Ala514Ser)
c.1435G>T (p.Ala479Ser)
c.1765G>T (p.Ala589Ser)
c.1762G>T (p.Ala588Ser)
c.1699G>T (p.Ala567Ser)
c.1654G>T (p.Ala552Ser)
c.1450G>T (p.Ala484Ser)
c.1750G>T (p.Ala584Ser)
c.1501G>T (p.Ala501Ser)
n.3899C>A
n.791G>T
5g.96762287C>ACA360484891CAST,ERAP1c.767C>A (p.Ala256Asp)
c.1697C>A (p.Ala566Asp)
c.1475C>A (p.Ala492Asp)
c.1304C>A (p.Ala435Asp)
c.1589C>A (p.Ala530Asp)
c.1781C>A (p.Ala594Asp)
c.1847C>A (p.Ala616Asp)
c.228C>A
c.1749C>A
c.*1471C>A (n.*1471C>A)
c.564C>A
c.1460C>A (p.Ala487Asp)
c.1517C>A (p.Ala506Asp)
c.1736C>A (p.Ala579Asp)
n.391C>A
c.1391C>A (p.Ala464Asp)
c.*913G>T (n.*913G>T)
c.1532C>A (p.Ala511Asp)
c.1559C>A (p.Ala520Asp)
c.1598C>A (p.Ala533Asp)
n.1540C>A
c.1724C>A (p.Ala575Asp)
c.853C>A
c.825C>A
c.1382C>A (p.Ala461Asp)
c.743C>A (p.Ala248Asp)
c.1493C>A (p.Ala498Asp)
c.83C>A (p.Ala28Asp)
c.870C>A
c.1556C>A (p.Ala519Asp)
n.854C>A
c.1808C>A (p.Ala603Asp)
c.1802C>A (p.Ala601Asp)
c.1790C>A (p.Ala597Asp)
c.1745C>A (p.Ala582Asp)
c.1742C>A (p.Ala581Asp)
c.1679C>A (p.Ala560Asp)
c.1541C>A (p.Ala514Asp)
c.1436C>A (p.Ala479Asp)
c.1766C>A (p.Ala589Asp)
c.1763C>A (p.Ala588Asp)
c.1700C>A (p.Ala567Asp)
c.1655C>A (p.Ala552Asp)
c.1451C>A (p.Ala484Asp)
c.1751C>A (p.Ala584Asp)
c.1502C>A (p.Ala501Asp)
n.3898G>T
n.792C>A
5g.96762287C>GCA360484892CAST,ERAP1c.767C>G (p.Ala256Gly)
c.1697C>G (p.Ala566Gly)
c.1475C>G (p.Ala492Gly)
c.1304C>G (p.Ala435Gly)
c.1589C>G (p.Ala530Gly)
c.1781C>G (p.Ala594Gly)
c.1847C>G (p.Ala616Gly)
c.228C>G
c.1749C>G
c.*1471C>G (n.*1471C>G)
c.564C>G
c.1460C>G (p.Ala487Gly)
c.1517C>G (p.Ala506Gly)
c.1736C>G (p.Ala579Gly)
n.391C>G
c.1391C>G (p.Ala464Gly)
c.*913G>C (n.*913G>C)
c.1532C>G (p.Ala511Gly)
c.1559C>G (p.Ala520Gly)
c.1598C>G (p.Ala533Gly)
n.1540C>G
c.1724C>G (p.Ala575Gly)
c.853C>G
c.825C>G
c.1382C>G (p.Ala461Gly)
c.743C>G (p.Ala248Gly)
c.1493C>G (p.Ala498Gly)
c.83C>G (p.Ala28Gly)
c.870C>G
c.1556C>G (p.Ala519Gly)
n.854C>G
c.1808C>G (p.Ala603Gly)
c.1802C>G (p.Ala601Gly)
c.1790C>G (p.Ala597Gly)
c.1745C>G (p.Ala582Gly)
c.1742C>G (p.Ala581Gly)
c.1679C>G (p.Ala560Gly)
c.1541C>G (p.Ala514Gly)
c.1436C>G (p.Ala479Gly)
c.1766C>G (p.Ala589Gly)
c.1763C>G (p.Ala588Gly)
c.1700C>G (p.Ala567Gly)
c.1655C>G (p.Ala552Gly)
c.1451C>G (p.Ala484Gly)
c.1751C>G (p.Ala584Gly)
c.1502C>G (p.Ala501Gly)
n.3898G>C
n.792C>G
5g.96762287C>TCA360484893CAST,ERAP1c.767C>T (p.Ala256Val)
c.1697C>T (p.Ala566Val)
c.1475C>T (p.Ala492Val)
c.1304C>T (p.Ala435Val)
c.1589C>T (p.Ala530Val)
c.1781C>T (p.Ala594Val)
c.1847C>T (p.Ala616Val)
c.228C>T
c.1749C>T
c.*1471C>T (n.*1471C>T)
c.564C>T
c.1460C>T (p.Ala487Val)
c.1517C>T (p.Ala506Val)
c.1736C>T (p.Ala579Val)
n.391C>T
c.1391C>T (p.Ala464Val)
c.*913G>A (n.*913G>A)
c.1532C>T (p.Ala511Val)
c.1559C>T (p.Ala520Val)
c.1598C>T (p.Ala533Val)
n.1540C>T
c.1724C>T (p.Ala575Val)
c.853C>T
c.825C>T
c.1382C>T (p.Ala461Val)
c.743C>T (p.Ala248Val)
c.1493C>T (p.Ala498Val)
c.83C>T (p.Ala28Val)
c.870C>T
c.1556C>T (p.Ala519Val)
n.854C>T
c.1808C>T (p.Ala603Val)
c.1802C>T (p.Ala601Val)
c.1790C>T (p.Ala597Val)
c.1745C>T (p.Ala582Val)
c.1742C>T (p.Ala581Val)
c.1679C>T (p.Ala560Val)
c.1541C>T (p.Ala514Val)
c.1436C>T (p.Ala479Val)
c.1766C>T (p.Ala589Val)
c.1763C>T (p.Ala588Val)
c.1700C>T (p.Ala567Val)
c.1655C>T (p.Ala552Val)
c.1451C>T (p.Ala484Val)
c.1751C>T (p.Ala584Val)
c.1502C>T (p.Ala501Val)
n.3898G>A
n.792C>T
 gnomAD v4
5g.96762288T>ACA445510993CAST,ERAP1c.768T>A (p.Ala256=)
c.1698T>A (p.Ala566=)
c.1476T>A (p.Ala492=)
c.1305T>A (p.Ala435=)
c.1590T>A (p.Ala530=)
c.1782T>A (p.Ala594=)
c.1848T>A (p.Ala616=)
c.229T>A
c.1750T>A
c.*1472T>A (n.*1472T>A)
c.565T>A
c.1461T>A (p.Ala487=)
c.1518T>A (p.Ala506=)
c.1737T>A (p.Ala579=)
n.392T>A
c.1392T>A (p.Ala464=)
c.*912A>T (n.*912A>T)
c.1533T>A (p.Ala511=)
c.1560T>A (p.Ala520=)
c.1599T>A (p.Ala533=)
n.1541T>A
c.1725T>A (p.Ala575=)
c.854T>A
c.826T>A
c.1383T>A (p.Ala461=)
c.744T>A (p.Ala248=)
c.1494T>A (p.Ala498=)
c.84T>A (p.Ala28=)
c.871T>A
c.1557T>A (p.Ala519=)
n.855T>A
c.1809T>A (p.Ala603=)
c.1803T>A (p.Ala601=)
c.1791T>A (p.Ala597=)
c.1746T>A (p.Ala582=)
c.1743T>A (p.Ala581=)
c.1680T>A (p.Ala560=)
c.1542T>A (p.Ala514=)
c.1437T>A (p.Ala479=)
c.1767T>A (p.Ala589=)
c.1764T>A (p.Ala588=)
c.1701T>A (p.Ala567=)
c.1656T>A (p.Ala552=)
c.1452T>A (p.Ala484=)
c.1752T>A (p.Ala584=)
c.1503T>A (p.Ala501=)
n.3897A>T
n.793T>A
5g.96762288T>CCA445510994CAST,ERAP1c.768T>C (p.Ala256=)
c.1698T>C (p.Ala566=)
c.1476T>C (p.Ala492=)
c.1305T>C (p.Ala435=)
c.1590T>C (p.Ala530=)
c.1782T>C (p.Ala594=)
c.1848T>C (p.Ala616=)
c.229T>C
c.1750T>C
c.*1472T>C (n.*1472T>C)
c.565T>C
c.1461T>C (p.Ala487=)
c.1518T>C (p.Ala506=)
c.1737T>C (p.Ala579=)
n.392T>C
c.1392T>C (p.Ala464=)
c.*912A>G (n.*912A>G)
c.1533T>C (p.Ala511=)
c.1560T>C (p.Ala520=)
c.1599T>C (p.Ala533=)
n.1541T>C
c.1725T>C (p.Ala575=)
c.854T>C
c.826T>C
c.1383T>C (p.Ala461=)
c.744T>C (p.Ala248=)
c.1494T>C (p.Ala498=)
c.84T>C (p.Ala28=)
c.871T>C
c.1557T>C (p.Ala519=)
n.855T>C
c.1809T>C (p.Ala603=)
c.1803T>C (p.Ala601=)
c.1791T>C (p.Ala597=)
c.1746T>C (p.Ala582=)
c.1743T>C (p.Ala581=)
c.1680T>C (p.Ala560=)
c.1542T>C (p.Ala514=)
c.1437T>C (p.Ala479=)
c.1767T>C (p.Ala589=)
c.1764T>C (p.Ala588=)
c.1701T>C (p.Ala567=)
c.1656T>C (p.Ala552=)
c.1452T>C (p.Ala484=)
c.1752T>C (p.Ala584=)
c.1503T>C (p.Ala501=)
n.3897A>G
n.793T>C
 dbSNP gnomAD v4
5g.96762288T>GCA3351501CAST,ERAP1c.768T>G (p.Ala256=)
c.1698T>G (p.Ala566=)
c.1476T>G (p.Ala492=)
c.1305T>G (p.Ala435=)
c.1590T>G (p.Ala530=)
c.1782T>G (p.Ala594=)
c.1848T>G (p.Ala616=)
c.229T>G
c.1750T>G
c.*1472T>G (n.*1472T>G)
c.565T>G
c.1461T>G (p.Ala487=)
c.1518T>G (p.Ala506=)
c.1737T>G (p.Ala579=)
n.392T>G
c.1392T>G (p.Ala464=)
c.*912A>C (n.*912A>C)
c.1533T>G (p.Ala511=)
c.1560T>G (p.Ala520=)
c.1599T>G (p.Ala533=)
n.1541T>G
c.1725T>G (p.Ala575=)
c.854T>G
c.826T>G
c.1383T>G (p.Ala461=)
c.744T>G (p.Ala248=)
c.1494T>G (p.Ala498=)
c.84T>G (p.Ala28=)
c.871T>G
c.1557T>G (p.Ala519=)
n.855T>G
c.1809T>G (p.Ala603=)
c.1803T>G (p.Ala601=)
c.1791T>G (p.Ala597=)
c.1746T>G (p.Ala582=)
c.1743T>G (p.Ala581=)
c.1680T>G (p.Ala560=)
c.1542T>G (p.Ala514=)
c.1437T>G (p.Ala479=)
c.1767T>G (p.Ala589=)
c.1764T>G (p.Ala588=)
c.1701T>G (p.Ala567=)
c.1656T>G (p.Ala552=)
c.1452T>G (p.Ala484=)
c.1752T>G (p.Ala584=)
c.1503T>G (p.Ala501=)
n.3897A>C
n.793T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762288T=CA1565569271CAST,ERAP1c.768T= (p.Ala256=)
c.1698T= (p.Ala566=)
c.1476T= (p.Ala492=)
c.1305T= (p.Ala435=)
c.1590T= (p.Ala530=)
c.1782T= (p.Ala594=)
c.1848T= (p.Ala616=)
c.229T=
c.1750T=
c.*1472T= (n.*1472T=)
c.565T=
c.1461T= (p.Ala487=)
c.1518T= (p.Ala506=)
c.1737T= (p.Ala579=)
n.392T=
c.1392T= (p.Ala464=)
c.*912A= (n.*912A=)
c.1533T= (p.Ala511=)
c.1560T= (p.Ala520=)
c.1599T= (p.Ala533=)
n.1541T=
c.1725T= (p.Ala575=)
c.854T=
c.826T=
c.1383T= (p.Ala461=)
c.744T= (p.Ala248=)
c.1494T= (p.Ala498=)
c.84T= (p.Ala28=)
c.871T=
c.1557T= (p.Ala519=)
n.855T=
c.1809T= (p.Ala603=)
c.1803T= (p.Ala601=)
c.1791T= (p.Ala597=)
c.1746T= (p.Ala582=)
c.1743T= (p.Ala581=)
c.1680T= (p.Ala560=)
c.1542T= (p.Ala514=)
c.1437T= (p.Ala479=)
c.1767T= (p.Ala589=)
c.1764T= (p.Ala588=)
c.1701T= (p.Ala567=)
c.1656T= (p.Ala552=)
c.1452T= (p.Ala484=)
c.1752T= (p.Ala584=)
c.1503T= (p.Ala501=)
n.3897A=
n.793T=
5g.96762289A=CA1565569272CAST,ERAP1c.769A= (p.Lys257=)
c.1699A= (p.Lys567=)
c.1477A= (p.Lys493=)
c.1306A= (p.Lys436=)
c.1591A= (p.Lys531=)
c.1783A= (p.Lys595=)
c.1849A= (p.Lys617=)
c.230A=
c.1751A=
c.*1473A= (n.*1473A=)
c.566A=
c.1462A= (p.Lys488=)
c.1519A= (p.Lys507=)
c.1738A= (p.Lys580=)
n.393A=
c.1393A= (p.Lys465=)
c.*911T= (n.*911T=)
c.1534A= (p.Lys512=)
c.1561A= (p.Lys521=)
c.1600A= (p.Lys534=)
n.1542A=
c.1726A= (p.Lys576=)
c.855A=
c.827A=
c.1384A= (p.Lys462=)
c.745A= (p.Lys249=)
c.1495A= (p.Lys499=)
c.85A= (p.Lys29=)
c.872A=
c.1558A= (p.Lys520=)
n.856A=
c.1810A= (p.Lys604=)
c.1804A= (p.Lys602=)
c.1792A= (p.Lys598=)
c.1747A= (p.Lys583=)
c.1744A= (p.Lys582=)
c.1681A= (p.Lys561=)
c.1543A= (p.Lys515=)
c.1438A= (p.Lys480=)
c.1768A= (p.Lys590=)
c.1765A= (p.Lys589=)
c.1702A= (p.Lys568=)
c.1657A= (p.Lys553=)
c.1453A= (p.Lys485=)
c.1753A= (p.Lys585=)
c.1504A= (p.Lys502=)
n.3896T=
n.794A=
5g.96762289A>CCA360484896CAST,ERAP1c.769A>C (p.Lys257Gln)
c.1699A>C (p.Lys567Gln)
c.1477A>C (p.Lys493Gln)
c.1306A>C (p.Lys436Gln)
c.1591A>C (p.Lys531Gln)
c.1783A>C (p.Lys595Gln)
c.1849A>C (p.Lys617Gln)
c.230A>C
c.1751A>C
c.*1473A>C (n.*1473A>C)
c.566A>C
c.1462A>C (p.Lys488Gln)
c.1519A>C (p.Lys507Gln)
c.1738A>C (p.Lys580Gln)
n.393A>C
c.1393A>C (p.Lys465Gln)
c.*911T>G (n.*911T>G)
c.1534A>C (p.Lys512Gln)
c.1561A>C (p.Lys521Gln)
c.1600A>C (p.Lys534Gln)
n.1542A>C
c.1726A>C (p.Lys576Gln)
c.855A>C
c.827A>C
c.1384A>C (p.Lys462Gln)
c.745A>C (p.Lys249Gln)
c.1495A>C (p.Lys499Gln)
c.85A>C (p.Lys29Gln)
c.872A>C
c.1558A>C (p.Lys520Gln)
n.856A>C
c.1810A>C (p.Lys604Gln)
c.1804A>C (p.Lys602Gln)
c.1792A>C (p.Lys598Gln)
c.1747A>C (p.Lys583Gln)
c.1744A>C (p.Lys582Gln)
c.1681A>C (p.Lys561Gln)
c.1543A>C (p.Lys515Gln)
c.1438A>C (p.Lys480Gln)
c.1768A>C (p.Lys590Gln)
c.1765A>C (p.Lys589Gln)
c.1702A>C (p.Lys568Gln)
c.1657A>C (p.Lys553Gln)
c.1453A>C (p.Lys485Gln)
c.1753A>C (p.Lys585Gln)
c.1504A>C (p.Lys502Gln)
n.3896T>G
n.794A>C
5g.96762289A>GCA360484895CAST,ERAP1c.769A>G (p.Lys257Glu)
c.1699A>G (p.Lys567Glu)
c.1477A>G (p.Lys493Glu)
c.1306A>G (p.Lys436Glu)
c.1591A>G (p.Lys531Glu)
c.1783A>G (p.Lys595Glu)
c.1849A>G (p.Lys617Glu)
c.230A>G
c.1751A>G
c.*1473A>G (n.*1473A>G)
c.566A>G
c.1462A>G (p.Lys488Glu)
c.1519A>G (p.Lys507Glu)
c.1738A>G (p.Lys580Glu)
n.393A>G
c.1393A>G (p.Lys465Glu)
c.*911T>C (n.*911T>C)
c.1534A>G (p.Lys512Glu)
c.1561A>G (p.Lys521Glu)
c.1600A>G (p.Lys534Glu)
n.1542A>G
c.1726A>G (p.Lys576Glu)
c.855A>G
c.827A>G
c.1384A>G (p.Lys462Glu)
c.745A>G (p.Lys249Glu)
c.1495A>G (p.Lys499Glu)
c.85A>G (p.Lys29Glu)
c.872A>G
c.1558A>G (p.Lys520Glu)
n.856A>G
c.1810A>G (p.Lys604Glu)
c.1804A>G (p.Lys602Glu)
c.1792A>G (p.Lys598Glu)
c.1747A>G (p.Lys583Glu)
c.1744A>G (p.Lys582Glu)
c.1681A>G (p.Lys561Glu)
c.1543A>G (p.Lys515Glu)
c.1438A>G (p.Lys480Glu)
c.1768A>G (p.Lys590Glu)
c.1765A>G (p.Lys589Glu)
c.1702A>G (p.Lys568Glu)
c.1657A>G (p.Lys553Glu)
c.1453A>G (p.Lys485Glu)
c.1753A>G (p.Lys585Glu)
c.1504A>G (p.Lys502Glu)
n.3896T>C
n.794A>G
 dbSNP
5g.96762289A>TCA360484894CAST,ERAP1c.769A>T (p.Lys257Ter)
c.1699A>T (p.Lys567Ter)
c.1477A>T (p.Lys493Ter)
c.1306A>T (p.Lys436Ter)
c.1591A>T (p.Lys531Ter)
c.1783A>T (p.Lys595Ter)
c.1849A>T (p.Lys617Ter)
c.230A>T
c.1751A>T
c.*1473A>T (n.*1473A>T)
c.566A>T
c.1462A>T (p.Lys488Ter)
c.1519A>T (p.Lys507Ter)
c.1738A>T (p.Lys580Ter)
n.393A>T
c.1393A>T (p.Lys465Ter)
c.*911T>A (n.*911T>A)
c.1534A>T (p.Lys512Ter)
c.1561A>T (p.Lys521Ter)
c.1600A>T (p.Lys534Ter)
n.1542A>T
c.1726A>T (p.Lys576Ter)
c.855A>T
c.827A>T
c.1384A>T (p.Lys462Ter)
c.745A>T (p.Lys249Ter)
c.1495A>T (p.Lys499Ter)
c.85A>T (p.Lys29Ter)
c.872A>T
c.1558A>T (p.Lys520Ter)
n.856A>T
c.1810A>T (p.Lys604Ter)
c.1804A>T (p.Lys602Ter)
c.1792A>T (p.Lys598Ter)
c.1747A>T (p.Lys583Ter)
c.1744A>T (p.Lys582Ter)
c.1681A>T (p.Lys561Ter)
c.1543A>T (p.Lys515Ter)
c.1438A>T (p.Lys480Ter)
c.1768A>T (p.Lys590Ter)
c.1765A>T (p.Lys589Ter)
c.1702A>T (p.Lys568Ter)
c.1657A>T (p.Lys553Ter)
c.1453A>T (p.Lys485Ter)
c.1753A>T (p.Lys585Ter)
c.1504A>T (p.Lys502Ter)
n.3896T>A
n.794A>T
5g.96762290A=CA1565569273CAST,ERAP1c.770A= (p.Lys257=)
c.1700A= (p.Lys567=)
c.1478A= (p.Lys493=)
c.1307A= (p.Lys436=)
c.1592A= (p.Lys531=)
c.1784A= (p.Lys595=)
c.1850A= (p.Lys617=)
c.231A=
c.1752A=
c.*1474A= (n.*1474A=)
c.567A=
c.1463A= (p.Lys488=)
c.1520A= (p.Lys507=)
c.1739A= (p.Lys580=)
n.394A=
c.1394A= (p.Lys465=)
c.*910T= (n.*910T=)
c.1535A= (p.Lys512=)
c.1562A= (p.Lys521=)
c.1601A= (p.Lys534=)
n.1543A=
c.1727A= (p.Lys576=)
c.856A=
c.828A=
c.1385A= (p.Lys462=)
c.746A= (p.Lys249=)
c.1496A= (p.Lys499=)
c.86A= (p.Lys29=)
c.873A=
c.1559A= (p.Lys520=)
n.857A=
c.1811A= (p.Lys604=)
c.1805A= (p.Lys602=)
c.1793A= (p.Lys598=)
c.1748A= (p.Lys583=)
c.1745A= (p.Lys582=)
c.1682A= (p.Lys561=)
c.1544A= (p.Lys515=)
c.1439A= (p.Lys480=)
c.1769A= (p.Lys590=)
c.1766A= (p.Lys589=)
c.1703A= (p.Lys568=)
c.1658A= (p.Lys553=)
c.1454A= (p.Lys485=)
c.1754A= (p.Lys585=)
c.1505A= (p.Lys502=)
n.3895T=
n.795A=
5g.96762290A>CCA3351502CAST,ERAP1c.770A>C (p.Lys257Thr)
c.1700A>C (p.Lys567Thr)
c.1478A>C (p.Lys493Thr)
c.1307A>C (p.Lys436Thr)
c.1592A>C (p.Lys531Thr)
c.1784A>C (p.Lys595Thr)
c.1850A>C (p.Lys617Thr)
c.231A>C
c.1752A>C
c.*1474A>C (n.*1474A>C)
c.567A>C
c.1463A>C (p.Lys488Thr)
c.1520A>C (p.Lys507Thr)
c.1739A>C (p.Lys580Thr)
n.394A>C
c.1394A>C (p.Lys465Thr)
c.*910T>G (n.*910T>G)
c.1535A>C (p.Lys512Thr)
c.1562A>C (p.Lys521Thr)
c.1601A>C (p.Lys534Thr)
n.1543A>C
c.1727A>C (p.Lys576Thr)
c.856A>C
c.828A>C
c.1385A>C (p.Lys462Thr)
c.746A>C (p.Lys249Thr)
c.1496A>C (p.Lys499Thr)
c.86A>C (p.Lys29Thr)
c.873A>C
c.1559A>C (p.Lys520Thr)
n.857A>C
c.1811A>C (p.Lys604Thr)
c.1805A>C (p.Lys602Thr)
c.1793A>C (p.Lys598Thr)
c.1748A>C (p.Lys583Thr)
c.1745A>C (p.Lys582Thr)
c.1682A>C (p.Lys561Thr)
c.1544A>C (p.Lys515Thr)
c.1439A>C (p.Lys480Thr)
c.1769A>C (p.Lys590Thr)
c.1766A>C (p.Lys589Thr)
c.1703A>C (p.Lys568Thr)
c.1658A>C (p.Lys553Thr)
c.1454A>C (p.Lys485Thr)
c.1754A>C (p.Lys585Thr)
c.1505A>C (p.Lys502Thr)
n.3895T>G
n.795A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762290A>GCA360484897CAST,ERAP1c.770A>G (p.Lys257Arg)
c.1700A>G (p.Lys567Arg)
c.1478A>G (p.Lys493Arg)
c.1307A>G (p.Lys436Arg)
c.1592A>G (p.Lys531Arg)
c.1784A>G (p.Lys595Arg)
c.1850A>G (p.Lys617Arg)
c.231A>G
c.1752A>G
c.*1474A>G (n.*1474A>G)
c.567A>G
c.1463A>G (p.Lys488Arg)
c.1520A>G (p.Lys507Arg)
c.1739A>G (p.Lys580Arg)
n.394A>G
c.1394A>G (p.Lys465Arg)
c.*910T>C (n.*910T>C)
c.1535A>G (p.Lys512Arg)
c.1562A>G (p.Lys521Arg)
c.1601A>G (p.Lys534Arg)
n.1543A>G
c.1727A>G (p.Lys576Arg)
c.856A>G
c.828A>G
c.1385A>G (p.Lys462Arg)
c.746A>G (p.Lys249Arg)
c.1496A>G (p.Lys499Arg)
c.86A>G (p.Lys29Arg)
c.873A>G
c.1559A>G (p.Lys520Arg)
n.857A>G
c.1811A>G (p.Lys604Arg)
c.1805A>G (p.Lys602Arg)
c.1793A>G (p.Lys598Arg)
c.1748A>G (p.Lys583Arg)
c.1745A>G (p.Lys582Arg)
c.1682A>G (p.Lys561Arg)
c.1544A>G (p.Lys515Arg)
c.1439A>G (p.Lys480Arg)
c.1769A>G (p.Lys590Arg)
c.1766A>G (p.Lys589Arg)
c.1703A>G (p.Lys568Arg)
c.1658A>G (p.Lys553Arg)
c.1454A>G (p.Lys485Arg)
c.1754A>G (p.Lys585Arg)
c.1505A>G (p.Lys502Arg)
n.3895T>C
n.795A>G
5g.96762290A>TCA360484898CAST,ERAP1c.770A>T (p.Lys257Ile)
c.1700A>T (p.Lys567Ile)
c.1478A>T (p.Lys493Ile)
c.1307A>T (p.Lys436Ile)
c.1592A>T (p.Lys531Ile)
c.1784A>T (p.Lys595Ile)
c.1850A>T (p.Lys617Ile)
c.231A>T
c.1752A>T
c.*1474A>T (n.*1474A>T)
c.567A>T
c.1463A>T (p.Lys488Ile)
c.1520A>T (p.Lys507Ile)
c.1739A>T (p.Lys580Ile)
n.394A>T
c.1394A>T (p.Lys465Ile)
c.*910T>A (n.*910T>A)
c.1535A>T (p.Lys512Ile)
c.1562A>T (p.Lys521Ile)
c.1601A>T (p.Lys534Ile)
n.1543A>T
c.1727A>T (p.Lys576Ile)
c.856A>T
c.828A>T
c.1385A>T (p.Lys462Ile)
c.746A>T (p.Lys249Ile)
c.1496A>T (p.Lys499Ile)
c.86A>T (p.Lys29Ile)
c.873A>T
c.1559A>T (p.Lys520Ile)
n.857A>T
c.1811A>T (p.Lys604Ile)
c.1805A>T (p.Lys602Ile)
c.1793A>T (p.Lys598Ile)
c.1748A>T (p.Lys583Ile)
c.1745A>T (p.Lys582Ile)
c.1682A>T (p.Lys561Ile)
c.1544A>T (p.Lys515Ile)
c.1439A>T (p.Lys480Ile)
c.1769A>T (p.Lys590Ile)
c.1766A>T (p.Lys589Ile)
c.1703A>T (p.Lys568Ile)
c.1658A>T (p.Lys553Ile)
c.1454A>T (p.Lys485Ile)
c.1754A>T (p.Lys585Ile)
c.1505A>T (p.Lys502Ile)
n.3895T>A
n.795A>T
5g.96762291A=CA1565569274CAST,ERAP1c.771A= (p.Lys257=)
c.1701A= (p.Lys567=)
c.1479A= (p.Lys493=)
c.1308A= (p.Lys436=)
c.1593A= (p.Lys531=)
c.1785A= (p.Lys595=)
c.1851A= (p.Lys617=)
c.232A=
c.1753A=
c.*1475A= (n.*1475A=)
c.568A=
c.1464A= (p.Lys488=)
c.1521A= (p.Lys507=)
c.1740A= (p.Lys580=)
n.395A=
c.1395A= (p.Lys465=)
c.*909T= (n.*909T=)
c.1536A= (p.Lys512=)
c.1563A= (p.Lys521=)
c.1602A= (p.Lys534=)
n.1544A=
c.1728A= (p.Lys576=)
c.857A=
c.829A=
c.1386A= (p.Lys462=)
c.747A= (p.Lys249=)
c.1497A= (p.Lys499=)
c.87A= (p.Lys29=)
c.874A=
c.1560A= (p.Lys520=)
n.858A=
c.1812A= (p.Lys604=)
c.1806A= (p.Lys602=)
c.1794A= (p.Lys598=)
c.1749A= (p.Lys583=)
c.1746A= (p.Lys582=)
c.1683A= (p.Lys561=)
c.1545A= (p.Lys515=)
c.1440A= (p.Lys480=)
c.1770A= (p.Lys590=)
c.1767A= (p.Lys589=)
c.1704A= (p.Lys568=)
c.1659A= (p.Lys553=)
c.1455A= (p.Lys485=)
c.1755A= (p.Lys585=)
c.1506A= (p.Lys502=)
n.3894T=
n.796A=
5g.96762291A>CCA360484899CAST,ERAP1c.771A>C (p.Lys257Asn)
c.1701A>C (p.Lys567Asn)
c.1479A>C (p.Lys493Asn)
c.1308A>C (p.Lys436Asn)
c.1593A>C (p.Lys531Asn)
c.1785A>C (p.Lys595Asn)
c.1851A>C (p.Lys617Asn)
c.232A>C
c.1753A>C
c.*1475A>C (n.*1475A>C)
c.568A>C
c.1464A>C (p.Lys488Asn)
c.1521A>C (p.Lys507Asn)
c.1740A>C (p.Lys580Asn)
n.395A>C
c.1395A>C (p.Lys465Asn)
c.*909T>G (n.*909T>G)
c.1536A>C (p.Lys512Asn)
c.1563A>C (p.Lys521Asn)
c.1602A>C (p.Lys534Asn)
n.1544A>C
c.1728A>C (p.Lys576Asn)
c.857A>C
c.829A>C
c.1386A>C (p.Lys462Asn)
c.747A>C (p.Lys249Asn)
c.1497A>C (p.Lys499Asn)
c.87A>C (p.Lys29Asn)
c.874A>C
c.1560A>C (p.Lys520Asn)
n.858A>C
c.1812A>C (p.Lys604Asn)
c.1806A>C (p.Lys602Asn)
c.1794A>C (p.Lys598Asn)
c.1749A>C (p.Lys583Asn)
c.1746A>C (p.Lys582Asn)
c.1683A>C (p.Lys561Asn)
c.1545A>C (p.Lys515Asn)
c.1440A>C (p.Lys480Asn)
c.1770A>C (p.Lys590Asn)
c.1767A>C (p.Lys589Asn)
c.1704A>C (p.Lys568Asn)
c.1659A>C (p.Lys553Asn)
c.1455A>C (p.Lys485Asn)
c.1755A>C (p.Lys585Asn)
c.1506A>C (p.Lys502Asn)
n.3894T>G
n.796A>C
 dbSNP gnomAD v2 gnomAD v4
5g.96762291A>GCA445511001CAST,ERAP1c.771A>G (p.Lys257=)
c.1701A>G (p.Lys567=)
c.1479A>G (p.Lys493=)
c.1308A>G (p.Lys436=)
c.1593A>G (p.Lys531=)
c.1785A>G (p.Lys595=)
c.1851A>G (p.Lys617=)
c.232A>G
c.1753A>G
c.*1475A>G (n.*1475A>G)
c.568A>G
c.1464A>G (p.Lys488=)
c.1521A>G (p.Lys507=)
c.1740A>G (p.Lys580=)
n.395A>G
c.1395A>G (p.Lys465=)
c.*909T>C (n.*909T>C)
c.1536A>G (p.Lys512=)
c.1563A>G (p.Lys521=)
c.1602A>G (p.Lys534=)
n.1544A>G
c.1728A>G (p.Lys576=)
c.857A>G
c.829A>G
c.1386A>G (p.Lys462=)
c.747A>G (p.Lys249=)
c.1497A>G (p.Lys499=)
c.87A>G (p.Lys29=)
c.874A>G
c.1560A>G (p.Lys520=)
n.858A>G
c.1812A>G (p.Lys604=)
c.1806A>G (p.Lys602=)
c.1794A>G (p.Lys598=)
c.1749A>G (p.Lys583=)
c.1746A>G (p.Lys582=)
c.1683A>G (p.Lys561=)
c.1545A>G (p.Lys515=)
c.1440A>G (p.Lys480=)
c.1770A>G (p.Lys590=)
c.1767A>G (p.Lys589=)
c.1704A>G (p.Lys568=)
c.1659A>G (p.Lys553=)
c.1455A>G (p.Lys485=)
c.1755A>G (p.Lys585=)
c.1506A>G (p.Lys502=)
n.3894T>C
n.796A>G
5g.96762291A>TCA360484900CAST,ERAP1c.771A>T (p.Lys257Asn)
c.1701A>T (p.Lys567Asn)
c.1479A>T (p.Lys493Asn)
c.1308A>T (p.Lys436Asn)
c.1593A>T (p.Lys531Asn)
c.1785A>T (p.Lys595Asn)
c.1851A>T (p.Lys617Asn)
c.232A>T
c.1753A>T
c.*1475A>T (n.*1475A>T)
c.568A>T
c.1464A>T (p.Lys488Asn)
c.1521A>T (p.Lys507Asn)
c.1740A>T (p.Lys580Asn)
n.395A>T
c.1395A>T (p.Lys465Asn)
c.*909T>A (n.*909T>A)
c.1536A>T (p.Lys512Asn)
c.1563A>T (p.Lys521Asn)
c.1602A>T (p.Lys534Asn)
n.1544A>T
c.1728A>T (p.Lys576Asn)
c.857A>T
c.829A>T
c.1386A>T (p.Lys462Asn)
c.747A>T (p.Lys249Asn)
c.1497A>T (p.Lys499Asn)
c.87A>T (p.Lys29Asn)
c.874A>T
c.1560A>T (p.Lys520Asn)
n.858A>T
c.1812A>T (p.Lys604Asn)
c.1806A>T (p.Lys602Asn)
c.1794A>T (p.Lys598Asn)
c.1749A>T (p.Lys583Asn)
c.1746A>T (p.Lys582Asn)
c.1683A>T (p.Lys561Asn)
c.1545A>T (p.Lys515Asn)
c.1440A>T (p.Lys480Asn)
c.1770A>T (p.Lys590Asn)
c.1767A>T (p.Lys589Asn)
c.1704A>T (p.Lys568Asn)
c.1659A>T (p.Lys553Asn)
c.1455A>T (p.Lys485Asn)
c.1755A>T (p.Lys585Asn)
c.1506A>T (p.Lys502Asn)
n.3894T>A
n.796A>T
5g.96762292C>ACA360484901CAST,ERAP1c.772C>A (p.Leu258Ile)
c.1702C>A (p.Leu568Ile)
c.1480C>A (p.Leu494Ile)
c.1309C>A (p.Leu437Ile)
c.1594C>A (p.Leu532Ile)
c.1786C>A (p.Leu596Ile)
c.1852C>A (p.Leu618Ile)
c.233C>A
c.1754C>A
c.*1476C>A (n.*1476C>A)
c.569C>A
c.1465C>A (p.Leu489Ile)
c.1522C>A (p.Leu508Ile)
c.1741C>A (p.Leu581Ile)
n.396C>A
c.1396C>A (p.Leu466Ile)
c.*908G>T (n.*908G>T)
c.1537C>A (p.Leu513Ile)
c.1564C>A (p.Leu522Ile)
c.1603C>A (p.Leu535Ile)
n.1545C>A
c.1729C>A (p.Leu577Ile)
c.858C>A
c.830C>A
c.1387C>A (p.Leu463Ile)
c.748C>A (p.Leu250Ile)
c.1498C>A (p.Leu500Ile)
c.88C>A (p.Leu30Ile)
c.875C>A
c.1561C>A (p.Leu521Ile)
n.859C>A
c.1813C>A (p.Leu605Ile)
c.1807C>A (p.Leu603Ile)
c.1795C>A (p.Leu599Ile)
c.1750C>A (p.Leu584Ile)
c.1747C>A (p.Leu583Ile)
c.1684C>A (p.Leu562Ile)
c.1546C>A (p.Leu516Ile)
c.1441C>A (p.Leu481Ile)
c.1771C>A (p.Leu591Ile)
c.1768C>A (p.Leu590Ile)
c.1705C>A (p.Leu569Ile)
c.1660C>A (p.Leu554Ile)
c.1456C>A (p.Leu486Ile)
c.1756C>A (p.Leu586Ile)
c.1507C>A (p.Leu503Ile)
n.3893G>T
n.797C>A
5g.96762292C=CA1565569275CAST,ERAP1c.772C= (p.Leu258=)
c.1702C= (p.Leu568=)
c.1480C= (p.Leu494=)
c.1309C= (p.Leu437=)
c.1594C= (p.Leu532=)
c.1786C= (p.Leu596=)
c.1852C= (p.Leu618=)
c.233C=
c.1754C=
c.*1476C= (n.*1476C=)
c.569C=
c.1465C= (p.Leu489=)
c.1522C= (p.Leu508=)
c.1741C= (p.Leu581=)
n.396C=
c.1396C= (p.Leu466=)
c.*908G= (n.*908G=)
c.1537C= (p.Leu513=)
c.1564C= (p.Leu522=)
c.1603C= (p.Leu535=)
n.1545C=
c.1729C= (p.Leu577=)
c.858C=
c.830C=
c.1387C= (p.Leu463=)
c.748C= (p.Leu250=)
c.1498C= (p.Leu500=)
c.88C= (p.Leu30=)
c.875C=
c.1561C= (p.Leu521=)
n.859C=
c.1813C= (p.Leu605=)
c.1807C= (p.Leu603=)
c.1795C= (p.Leu599=)
c.1750C= (p.Leu584=)
c.1747C= (p.Leu583=)
c.1684C= (p.Leu562=)
c.1546C= (p.Leu516=)
c.1441C= (p.Leu481=)
c.1771C= (p.Leu591=)
c.1768C= (p.Leu590=)
c.1705C= (p.Leu569=)
c.1660C= (p.Leu554=)
c.1456C= (p.Leu486=)
c.1756C= (p.Leu586=)
c.1507C= (p.Leu503=)
n.3893G=
n.797C=
5g.96762292C>GCA360484902CAST,ERAP1c.772C>G (p.Leu258Val)
c.1702C>G (p.Leu568Val)
c.1480C>G (p.Leu494Val)
c.1309C>G (p.Leu437Val)
c.1594C>G (p.Leu532Val)
c.1786C>G (p.Leu596Val)
c.1852C>G (p.Leu618Val)
c.233C>G
c.1754C>G
c.*1476C>G (n.*1476C>G)
c.569C>G
c.1465C>G (p.Leu489Val)
c.1522C>G (p.Leu508Val)
c.1741C>G (p.Leu581Val)
n.396C>G
c.1396C>G (p.Leu466Val)
c.*908G>C (n.*908G>C)
c.1537C>G (p.Leu513Val)
c.1564C>G (p.Leu522Val)
c.1603C>G (p.Leu535Val)
n.1545C>G
c.1729C>G (p.Leu577Val)
c.858C>G
c.830C>G
c.1387C>G (p.Leu463Val)
c.748C>G (p.Leu250Val)
c.1498C>G (p.Leu500Val)
c.88C>G (p.Leu30Val)
c.875C>G
c.1561C>G (p.Leu521Val)
n.859C>G
c.1813C>G (p.Leu605Val)
c.1807C>G (p.Leu603Val)
c.1795C>G (p.Leu599Val)
c.1750C>G (p.Leu584Val)
c.1747C>G (p.Leu583Val)
c.1684C>G (p.Leu562Val)
c.1546C>G (p.Leu516Val)
c.1441C>G (p.Leu481Val)
c.1771C>G (p.Leu591Val)
c.1768C>G (p.Leu590Val)
c.1705C>G (p.Leu569Val)
c.1660C>G (p.Leu554Val)
c.1456C>G (p.Leu486Val)
c.1756C>G (p.Leu586Val)
c.1507C>G (p.Leu503Val)
n.3893G>C
n.797C>G
5g.96762292C>TCA3351503CAST,ERAP1c.772C>T (p.Leu258Phe)
c.1702C>T (p.Leu568Phe)
c.1480C>T (p.Leu494Phe)
c.1309C>T (p.Leu437Phe)
c.1594C>T (p.Leu532Phe)
c.1786C>T (p.Leu596Phe)
c.1852C>T (p.Leu618Phe)
c.233C>T
c.1754C>T
c.*1476C>T (n.*1476C>T)
c.569C>T
c.1465C>T (p.Leu489Phe)
c.1522C>T (p.Leu508Phe)
c.1741C>T (p.Leu581Phe)
n.396C>T
c.1396C>T (p.Leu466Phe)
c.*908G>A (n.*908G>A)
c.1537C>T (p.Leu513Phe)
c.1564C>T (p.Leu522Phe)
c.1603C>T (p.Leu535Phe)
n.1545C>T
c.1729C>T (p.Leu577Phe)
c.858C>T
c.830C>T
c.1387C>T (p.Leu463Phe)
c.748C>T (p.Leu250Phe)
c.1498C>T (p.Leu500Phe)
c.88C>T (p.Leu30Phe)
c.875C>T
c.1561C>T (p.Leu521Phe)
n.859C>T
c.1813C>T (p.Leu605Phe)
c.1807C>T (p.Leu603Phe)
c.1795C>T (p.Leu599Phe)
c.1750C>T (p.Leu584Phe)
c.1747C>T (p.Leu583Phe)
c.1684C>T (p.Leu562Phe)
c.1546C>T (p.Leu516Phe)
c.1441C>T (p.Leu481Phe)
c.1771C>T (p.Leu591Phe)
c.1768C>T (p.Leu590Phe)
c.1705C>T (p.Leu569Phe)
c.1660C>T (p.Leu554Phe)
c.1456C>T (p.Leu486Phe)
c.1756C>T (p.Leu586Phe)
c.1507C>T (p.Leu503Phe)
n.3893G>A
n.797C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762293T>ACA360484903CAST,ERAP1c.773T>A (p.Leu258His)
c.1703T>A (p.Leu568His)
c.1481T>A (p.Leu494His)
c.1310T>A (p.Leu437His)
c.1595T>A (p.Leu532His)
c.1787T>A (p.Leu596His)
c.1853T>A (p.Leu618His)
c.234T>A
c.1755T>A
c.*1477T>A (n.*1477T>A)
c.570T>A
c.1466T>A (p.Leu489His)
c.1523T>A (p.Leu508His)
c.1742T>A (p.Leu581His)
n.397T>A
c.1397T>A (p.Leu466His)
c.*907A>T (n.*907A>T)
c.1538T>A (p.Leu513His)
c.1565T>A (p.Leu522His)
c.1604T>A (p.Leu535His)
n.1546T>A
c.1730T>A (p.Leu577His)
c.859T>A
c.831T>A
c.1388T>A (p.Leu463His)
c.749T>A (p.Leu250His)
c.1499T>A (p.Leu500His)
c.89T>A (p.Leu30His)
c.876T>A
c.1562T>A (p.Leu521His)
n.860T>A
c.1814T>A (p.Leu605His)
c.1808T>A (p.Leu603His)
c.1796T>A (p.Leu599His)
c.1751T>A (p.Leu584His)
c.1748T>A (p.Leu583His)
c.1685T>A (p.Leu562His)
c.1547T>A (p.Leu516His)
c.1442T>A (p.Leu481His)
c.1772T>A (p.Leu591His)
c.1769T>A (p.Leu590His)
c.1706T>A (p.Leu569His)
c.1661T>A (p.Leu554His)
c.1457T>A (p.Leu486His)
c.1757T>A (p.Leu586His)
c.1508T>A (p.Leu503His)
n.3892A>T
n.798T>A
5g.96762293T>CCA3351504CAST,ERAP1c.773T>C (p.Leu258Pro)
c.1703T>C (p.Leu568Pro)
c.1481T>C (p.Leu494Pro)
c.1310T>C (p.Leu437Pro)
c.1595T>C (p.Leu532Pro)
c.1787T>C (p.Leu596Pro)
c.1853T>C (p.Leu618Pro)
c.234T>C
c.1755T>C
c.*1477T>C (n.*1477T>C)
c.570T>C
c.1466T>C (p.Leu489Pro)
c.1523T>C (p.Leu508Pro)
c.1742T>C (p.Leu581Pro)
n.397T>C
c.1397T>C (p.Leu466Pro)
c.*907A>G (n.*907A>G)
c.1538T>C (p.Leu513Pro)
c.1565T>C (p.Leu522Pro)
c.1604T>C (p.Leu535Pro)
n.1546T>C
c.1730T>C (p.Leu577Pro)
c.859T>C
c.831T>C
c.1388T>C (p.Leu463Pro)
c.749T>C (p.Leu250Pro)
c.1499T>C (p.Leu500Pro)
c.89T>C (p.Leu30Pro)
c.876T>C
c.1562T>C (p.Leu521Pro)
n.860T>C
c.1814T>C (p.Leu605Pro)
c.1808T>C (p.Leu603Pro)
c.1796T>C (p.Leu599Pro)
c.1751T>C (p.Leu584Pro)
c.1748T>C (p.Leu583Pro)
c.1685T>C (p.Leu562Pro)
c.1547T>C (p.Leu516Pro)
c.1442T>C (p.Leu481Pro)
c.1772T>C (p.Leu591Pro)
c.1769T>C (p.Leu590Pro)
c.1706T>C (p.Leu569Pro)
c.1661T>C (p.Leu554Pro)
c.1457T>C (p.Leu486Pro)
c.1757T>C (p.Leu586Pro)
c.1508T>C (p.Leu503Pro)
n.3892A>G
n.798T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762293T>GCA360484904CAST,ERAP1c.773T>G (p.Leu258Arg)
c.1703T>G (p.Leu568Arg)
c.1481T>G (p.Leu494Arg)
c.1310T>G (p.Leu437Arg)
c.1595T>G (p.Leu532Arg)
c.1787T>G (p.Leu596Arg)
c.1853T>G (p.Leu618Arg)
c.234T>G
c.1755T>G
c.*1477T>G (n.*1477T>G)
c.570T>G
c.1466T>G (p.Leu489Arg)
c.1523T>G (p.Leu508Arg)
c.1742T>G (p.Leu581Arg)
n.397T>G
c.1397T>G (p.Leu466Arg)
c.*907A>C (n.*907A>C)
c.1538T>G (p.Leu513Arg)
c.1565T>G (p.Leu522Arg)
c.1604T>G (p.Leu535Arg)
n.1546T>G
c.1730T>G (p.Leu577Arg)
c.859T>G
c.831T>G
c.1388T>G (p.Leu463Arg)
c.749T>G (p.Leu250Arg)
c.1499T>G (p.Leu500Arg)
c.89T>G (p.Leu30Arg)
c.876T>G
c.1562T>G (p.Leu521Arg)
n.860T>G
c.1814T>G (p.Leu605Arg)
c.1808T>G (p.Leu603Arg)
c.1796T>G (p.Leu599Arg)
c.1751T>G (p.Leu584Arg)
c.1748T>G (p.Leu583Arg)
c.1685T>G (p.Leu562Arg)
c.1547T>G (p.Leu516Arg)
c.1442T>G (p.Leu481Arg)
c.1772T>G (p.Leu591Arg)
c.1769T>G (p.Leu590Arg)
c.1706T>G (p.Leu569Arg)
c.1661T>G (p.Leu554Arg)
c.1457T>G (p.Leu486Arg)
c.1757T>G (p.Leu586Arg)
c.1508T>G (p.Leu503Arg)
n.3892A>C
n.798T>G
5g.96762293T=CA1565569276CAST,ERAP1c.773T= (p.Leu258=)
c.1703T= (p.Leu568=)
c.1481T= (p.Leu494=)
c.1310T= (p.Leu437=)
c.1595T= (p.Leu532=)
c.1787T= (p.Leu596=)
c.1853T= (p.Leu618=)
c.234T=
c.1755T=
c.*1477T= (n.*1477T=)
c.570T=
c.1466T= (p.Leu489=)
c.1523T= (p.Leu508=)
c.1742T= (p.Leu581=)
n.397T=
c.1397T= (p.Leu466=)
c.*907A= (n.*907A=)
c.1538T= (p.Leu513=)
c.1565T= (p.Leu522=)
c.1604T= (p.Leu535=)
n.1546T=
c.1730T= (p.Leu577=)
c.859T=
c.831T=
c.1388T= (p.Leu463=)
c.749T= (p.Leu250=)
c.1499T= (p.Leu500=)
c.89T= (p.Leu30=)
c.876T=
c.1562T= (p.Leu521=)
n.860T=
c.1814T= (p.Leu605=)
c.1808T= (p.Leu603=)
c.1796T= (p.Leu599=)
c.1751T= (p.Leu584=)
c.1748T= (p.Leu583=)
c.1685T= (p.Leu562=)
c.1547T= (p.Leu516=)
c.1442T= (p.Leu481=)
c.1772T= (p.Leu591=)
c.1769T= (p.Leu590=)
c.1706T= (p.Leu569=)
c.1661T= (p.Leu554=)
c.1457T= (p.Leu486=)
c.1757T= (p.Leu586=)
c.1508T= (p.Leu503=)
n.3892A=
n.798T=
5g.96762294T>ACA445511006CAST,ERAP1c.774T>A (p.Leu258=)
c.1704T>A (p.Leu568=)
c.1482T>A (p.Leu494=)
c.1311T>A (p.Leu437=)
c.1596T>A (p.Leu532=)
c.1788T>A (p.Leu596=)
c.1854T>A (p.Leu618=)
c.235T>A
c.1756T>A
c.*1478T>A (n.*1478T>A)
c.571T>A
c.1467T>A (p.Leu489=)
c.1524T>A (p.Leu508=)
c.1743T>A (p.Leu581=)
n.398T>A
c.1398T>A (p.Leu466=)
c.*906A>T (n.*906A>T)
c.1539T>A (p.Leu513=)
c.1566T>A (p.Leu522=)
c.1605T>A (p.Leu535=)
n.1547T>A
c.1731T>A (p.Leu577=)
c.860T>A
c.832T>A
c.1389T>A (p.Leu463=)
c.750T>A (p.Leu250=)
c.1500T>A (p.Leu500=)
c.90T>A (p.Leu30=)
c.877T>A
c.1563T>A (p.Leu521=)
n.861T>A
c.1815T>A (p.Leu605=)
c.1809T>A (p.Leu603=)
c.1797T>A (p.Leu599=)
c.1752T>A (p.Leu584=)
c.1749T>A (p.Leu583=)
c.1686T>A (p.Leu562=)
c.1548T>A (p.Leu516=)
c.1443T>A (p.Leu481=)
c.1773T>A (p.Leu591=)
c.1770T>A (p.Leu590=)
c.1707T>A (p.Leu569=)
c.1662T>A (p.Leu554=)
c.1458T>A (p.Leu486=)
c.1758T>A (p.Leu586=)
c.1509T>A (p.Leu503=)
n.3891A>T
n.799T>A
5g.96762294T>CCA445511010CAST,ERAP1c.774T>C (p.Leu258=)
c.1704T>C (p.Leu568=)
c.1482T>C (p.Leu494=)
c.1311T>C (p.Leu437=)
c.1596T>C (p.Leu532=)
c.1788T>C (p.Leu596=)
c.1854T>C (p.Leu618=)
c.235T>C
c.1756T>C
c.*1478T>C (n.*1478T>C)
c.571T>C
c.1467T>C (p.Leu489=)
c.1524T>C (p.Leu508=)
c.1743T>C (p.Leu581=)
n.398T>C
c.1398T>C (p.Leu466=)
c.*906A>G (n.*906A>G)
c.1539T>C (p.Leu513=)
c.1566T>C (p.Leu522=)
c.1605T>C (p.Leu535=)
n.1547T>C
c.1731T>C (p.Leu577=)
c.860T>C
c.832T>C
c.1389T>C (p.Leu463=)
c.750T>C (p.Leu250=)
c.1500T>C (p.Leu500=)
c.90T>C (p.Leu30=)
c.877T>C
c.1563T>C (p.Leu521=)
n.861T>C
c.1815T>C (p.Leu605=)
c.1809T>C (p.Leu603=)
c.1797T>C (p.Leu599=)
c.1752T>C (p.Leu584=)
c.1749T>C (p.Leu583=)
c.1686T>C (p.Leu562=)
c.1548T>C (p.Leu516=)
c.1443T>C (p.Leu481=)
c.1773T>C (p.Leu591=)
c.1770T>C (p.Leu590=)
c.1707T>C (p.Leu569=)
c.1662T>C (p.Leu554=)
c.1458T>C (p.Leu486=)
c.1758T>C (p.Leu586=)
c.1509T>C (p.Leu503=)
n.3891A>G
n.799T>C
 dbSNP gnomAD v2
5g.96762294T>GCA445511008CAST,ERAP1c.774T>G (p.Leu258=)
c.1704T>G (p.Leu568=)
c.1482T>G (p.Leu494=)
c.1311T>G (p.Leu437=)
c.1596T>G (p.Leu532=)
c.1788T>G (p.Leu596=)
c.1854T>G (p.Leu618=)
c.235T>G
c.1756T>G
c.*1478T>G (n.*1478T>G)
c.571T>G
c.1467T>G (p.Leu489=)
c.1524T>G (p.Leu508=)
c.1743T>G (p.Leu581=)
n.398T>G
c.1398T>G (p.Leu466=)
c.*906A>C (n.*906A>C)
c.1539T>G (p.Leu513=)
c.1566T>G (p.Leu522=)
c.1605T>G (p.Leu535=)
n.1547T>G
c.1731T>G (p.Leu577=)
c.860T>G
c.832T>G
c.1389T>G (p.Leu463=)
c.750T>G (p.Leu250=)
c.1500T>G (p.Leu500=)
c.90T>G (p.Leu30=)
c.877T>G
c.1563T>G (p.Leu521=)
n.861T>G
c.1815T>G (p.Leu605=)
c.1809T>G (p.Leu603=)
c.1797T>G (p.Leu599=)
c.1752T>G (p.Leu584=)
c.1749T>G (p.Leu583=)
c.1686T>G (p.Leu562=)
c.1548T>G (p.Leu516=)
c.1443T>G (p.Leu481=)
c.1773T>G (p.Leu591=)
c.1770T>G (p.Leu590=)
c.1707T>G (p.Leu569=)
c.1662T>G (p.Leu554=)
c.1458T>G (p.Leu486=)
c.1758T>G (p.Leu586=)
c.1509T>G (p.Leu503=)
n.3891A>C
n.799T>G
5g.96762294T=CA1565569277CAST,ERAP1c.774T= (p.Leu258=)
c.1704T= (p.Leu568=)
c.1482T= (p.Leu494=)
c.1311T= (p.Leu437=)
c.1596T= (p.Leu532=)
c.1788T= (p.Leu596=)
c.1854T= (p.Leu618=)
c.235T=
c.1756T=
c.*1478T= (n.*1478T=)
c.571T=
c.1467T= (p.Leu489=)
c.1524T= (p.Leu508=)
c.1743T= (p.Leu581=)
n.398T=
c.1398T= (p.Leu466=)
c.*906A= (n.*906A=)
c.1539T= (p.Leu513=)
c.1566T= (p.Leu522=)
c.1605T= (p.Leu535=)
n.1547T=
c.1731T= (p.Leu577=)
c.860T=
c.832T=
c.1389T= (p.Leu463=)
c.750T= (p.Leu250=)
c.1500T= (p.Leu500=)
c.90T= (p.Leu30=)
c.877T=
c.1563T= (p.Leu521=)
n.861T=
c.1815T= (p.Leu605=)
c.1809T= (p.Leu603=)
c.1797T= (p.Leu599=)
c.1752T= (p.Leu584=)
c.1749T= (p.Leu583=)
c.1686T= (p.Leu562=)
c.1548T= (p.Leu516=)
c.1443T= (p.Leu481=)
c.1773T= (p.Leu591=)
c.1770T= (p.Leu590=)
c.1707T= (p.Leu569=)
c.1662T= (p.Leu554=)
c.1458T= (p.Leu486=)
c.1758T= (p.Leu586=)
c.1509T= (p.Leu503=)
n.3891A=
n.799T=
5g.96762295G>ACA360484905CAST,ERAP1c.775G>A (p.Ala259Thr)
c.1705G>A (p.Ala569Thr)
c.1483G>A (p.Ala495Thr)
c.1312G>A (p.Ala438Thr)
c.1597G>A (p.Ala533Thr)
c.1789G>A (p.Ala597Thr)
c.1855G>A (p.Ala619Thr)
c.236G>A
c.1757G>A
c.*1479G>A (n.*1479G>A)
c.572G>A
c.1468G>A (p.Ala490Thr)
c.1525G>A (p.Ala509Thr)
c.1744G>A (p.Ala582Thr)
n.399G>A
c.1399G>A (p.Ala467Thr)
c.*905C>T (n.*905C>T)
c.1540G>A (p.Ala514Thr)
c.1567G>A (p.Ala523Thr)
c.1606G>A (p.Ala536Thr)
n.1548G>A
c.1732G>A (p.Ala578Thr)
c.861G>A
c.833G>A
c.1390G>A (p.Ala464Thr)
c.751G>A (p.Ala251Thr)
c.1501G>A (p.Ala501Thr)
c.91G>A (p.Ala31Thr)
c.878G>A
c.1564G>A (p.Ala522Thr)
n.862G>A
c.1816G>A (p.Ala606Thr)
c.1810G>A (p.Ala604Thr)
c.1798G>A (p.Ala600Thr)
c.1753G>A (p.Ala585Thr)
c.1750G>A (p.Ala584Thr)
c.1687G>A (p.Ala563Thr)
c.1549G>A (p.Ala517Thr)
c.1444G>A (p.Ala482Thr)
c.1774G>A (p.Ala592Thr)
c.1771G>A (p.Ala591Thr)
c.1708G>A (p.Ala570Thr)
c.1663G>A (p.Ala555Thr)
c.1459G>A (p.Ala487Thr)
c.1759G>A (p.Ala587Thr)
c.1510G>A (p.Ala504Thr)
n.3890C>T
n.800G>A
5g.96762295G>CCA360484906CAST,ERAP1c.775G>C (p.Ala259Pro)
c.1705G>C (p.Ala569Pro)
c.1483G>C (p.Ala495Pro)
c.1312G>C (p.Ala438Pro)
c.1597G>C (p.Ala533Pro)
c.1789G>C (p.Ala597Pro)
c.1855G>C (p.Ala619Pro)
c.236G>C
c.1757G>C
c.*1479G>C (n.*1479G>C)
c.572G>C
c.1468G>C (p.Ala490Pro)
c.1525G>C (p.Ala509Pro)
c.1744G>C (p.Ala582Pro)
n.399G>C
c.1399G>C (p.Ala467Pro)
c.*905C>G (n.*905C>G)
c.1540G>C (p.Ala514Pro)
c.1567G>C (p.Ala523Pro)
c.1606G>C (p.Ala536Pro)
n.1548G>C
c.1732G>C (p.Ala578Pro)
c.861G>C
c.833G>C
c.1390G>C (p.Ala464Pro)
c.751G>C (p.Ala251Pro)
c.1501G>C (p.Ala501Pro)
c.91G>C (p.Ala31Pro)
c.878G>C
c.1564G>C (p.Ala522Pro)
n.862G>C
c.1816G>C (p.Ala606Pro)
c.1810G>C (p.Ala604Pro)
c.1798G>C (p.Ala600Pro)
c.1753G>C (p.Ala585Pro)
c.1750G>C (p.Ala584Pro)
c.1687G>C (p.Ala563Pro)
c.1549G>C (p.Ala517Pro)
c.1444G>C (p.Ala482Pro)
c.1774G>C (p.Ala592Pro)
c.1771G>C (p.Ala591Pro)
c.1708G>C (p.Ala570Pro)
c.1663G>C (p.Ala555Pro)
c.1459G>C (p.Ala487Pro)
c.1759G>C (p.Ala587Pro)
c.1510G>C (p.Ala504Pro)
n.3890C>G
n.800G>C
5g.96762295G>TCA360484907CAST,ERAP1c.775G>T (p.Ala259Ser)
c.1705G>T (p.Ala569Ser)
c.1483G>T (p.Ala495Ser)
c.1312G>T (p.Ala438Ser)
c.1597G>T (p.Ala533Ser)
c.1789G>T (p.Ala597Ser)
c.1855G>T (p.Ala619Ser)
c.236G>T
c.1757G>T
c.*1479G>T (n.*1479G>T)
c.572G>T
c.1468G>T (p.Ala490Ser)
c.1525G>T (p.Ala509Ser)
c.1744G>T (p.Ala582Ser)
n.399G>T
c.1399G>T (p.Ala467Ser)
c.*905C>A (n.*905C>A)
c.1540G>T (p.Ala514Ser)
c.1567G>T (p.Ala523Ser)
c.1606G>T (p.Ala536Ser)
n.1548G>T
c.1732G>T (p.Ala578Ser)
c.861G>T
c.833G>T
c.1390G>T (p.Ala464Ser)
c.751G>T (p.Ala251Ser)
c.1501G>T (p.Ala501Ser)
c.91G>T (p.Ala31Ser)
c.878G>T
c.1564G>T (p.Ala522Ser)
n.862G>T
c.1816G>T (p.Ala606Ser)
c.1810G>T (p.Ala604Ser)
c.1798G>T (p.Ala600Ser)
c.1753G>T (p.Ala585Ser)
c.1750G>T (p.Ala584Ser)
c.1687G>T (p.Ala563Ser)
c.1549G>T (p.Ala517Ser)
c.1444G>T (p.Ala482Ser)
c.1774G>T (p.Ala592Ser)
c.1771G>T (p.Ala591Ser)
c.1708G>T (p.Ala570Ser)
c.1663G>T (p.Ala555Ser)
c.1459G>T (p.Ala487Ser)
c.1759G>T (p.Ala587Ser)
c.1510G>T (p.Ala504Ser)
n.3890C>A
n.800G>T
5g.96762296C>ACA360484909CAST,ERAP1c.776C>A (p.Ala259Asp)
c.1706C>A (p.Ala569Asp)
c.1484C>A (p.Ala495Asp)
c.1313C>A (p.Ala438Asp)
c.1598C>A (p.Ala533Asp)
c.1790C>A (p.Ala597Asp)
c.1856C>A (p.Ala619Asp)
c.237C>A
c.1758C>A
c.*1480C>A (n.*1480C>A)
c.573C>A
c.1469C>A (p.Ala490Asp)
c.1526C>A (p.Ala509Asp)
c.1745C>A (p.Ala582Asp)
n.400C>A
c.1400C>A (p.Ala467Asp)
c.*904G>T (n.*904G>T)
c.1541C>A (p.Ala514Asp)
c.1568C>A (p.Ala523Asp)
c.1607C>A (p.Ala536Asp)
n.1549C>A
c.1733C>A (p.Ala578Asp)
c.862C>A
c.834C>A
c.1391C>A (p.Ala464Asp)
c.752C>A (p.Ala251Asp)
c.1502C>A (p.Ala501Asp)
c.92C>A (p.Ala31Asp)
c.879C>A
c.1565C>A (p.Ala522Asp)
n.863C>A
c.1817C>A (p.Ala606Asp)
c.1811C>A (p.Ala604Asp)
c.1799C>A (p.Ala600Asp)
c.1754C>A (p.Ala585Asp)
c.1751C>A (p.Ala584Asp)
c.1688C>A (p.Ala563Asp)
c.1550C>A (p.Ala517Asp)
c.1445C>A (p.Ala482Asp)
c.1775C>A (p.Ala592Asp)
c.1772C>A (p.Ala591Asp)
c.1709C>A (p.Ala570Asp)
c.1664C>A (p.Ala555Asp)
c.1460C>A (p.Ala487Asp)
c.1760C>A (p.Ala587Asp)
c.1511C>A (p.Ala504Asp)
n.3889G>T
n.801C>A
 gnomAD v4
5g.96762296C=CA1565569278CAST,ERAP1c.776C= (p.Ala259=)
c.1706C= (p.Ala569=)
c.1484C= (p.Ala495=)
c.1313C= (p.Ala438=)
c.1598C= (p.Ala533=)
c.1790C= (p.Ala597=)
c.1856C= (p.Ala619=)
c.237C=
c.1758C=
c.*1480C= (n.*1480C=)
c.573C=
c.1469C= (p.Ala490=)
c.1526C= (p.Ala509=)
c.1745C= (p.Ala582=)
n.400C=
c.1400C= (p.Ala467=)
c.*904G= (n.*904G=)
c.1541C= (p.Ala514=)
c.1568C= (p.Ala523=)
c.1607C= (p.Ala536=)
n.1549C=
c.1733C= (p.Ala578=)
c.862C=
c.834C=
c.1391C= (p.Ala464=)
c.752C= (p.Ala251=)
c.1502C= (p.Ala501=)
c.92C= (p.Ala31=)
c.879C=
c.1565C= (p.Ala522=)
n.863C=
c.1817C= (p.Ala606=)
c.1811C= (p.Ala604=)
c.1799C= (p.Ala600=)
c.1754C= (p.Ala585=)
c.1751C= (p.Ala584=)
c.1688C= (p.Ala563=)
c.1550C= (p.Ala517=)
c.1445C= (p.Ala482=)
c.1775C= (p.Ala592=)
c.1772C= (p.Ala591=)
c.1709C= (p.Ala570=)
c.1664C= (p.Ala555=)
c.1460C= (p.Ala487=)
c.1760C= (p.Ala587=)
c.1511C= (p.Ala504=)
n.3889G=
n.801C=
5g.96762296C>GCA122976469CAST,ERAP1c.776C>G (p.Ala259Gly)
c.1706C>G (p.Ala569Gly)
c.1484C>G (p.Ala495Gly)
c.1313C>G (p.Ala438Gly)
c.1598C>G (p.Ala533Gly)
c.1790C>G (p.Ala597Gly)
c.1856C>G (p.Ala619Gly)
c.237C>G
c.1758C>G
c.*1480C>G (n.*1480C>G)
c.573C>G
c.1469C>G (p.Ala490Gly)
c.1526C>G (p.Ala509Gly)
c.1745C>G (p.Ala582Gly)
n.400C>G
c.1400C>G (p.Ala467Gly)
c.*904G>C (n.*904G>C)
c.1541C>G (p.Ala514Gly)
c.1568C>G (p.Ala523Gly)
c.1607C>G (p.Ala536Gly)
n.1549C>G
c.1733C>G (p.Ala578Gly)
c.862C>G
c.834C>G
c.1391C>G (p.Ala464Gly)
c.752C>G (p.Ala251Gly)
c.1502C>G (p.Ala501Gly)
c.92C>G (p.Ala31Gly)
c.879C>G
c.1565C>G (p.Ala522Gly)
n.863C>G
c.1817C>G (p.Ala606Gly)
c.1811C>G (p.Ala604Gly)
c.1799C>G (p.Ala600Gly)
c.1754C>G (p.Ala585Gly)
c.1751C>G (p.Ala584Gly)
c.1688C>G (p.Ala563Gly)
c.1550C>G (p.Ala517Gly)
c.1445C>G (p.Ala482Gly)
c.1775C>G (p.Ala592Gly)
c.1772C>G (p.Ala591Gly)
c.1709C>G (p.Ala570Gly)
c.1664C>G (p.Ala555Gly)
c.1460C>G (p.Ala487Gly)
c.1760C>G (p.Ala587Gly)
c.1511C>G (p.Ala504Gly)
n.3889G>C
n.801C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.96762296C>TCA360484908CAST,ERAP1c.776C>T (p.Ala259Val)
c.1706C>T (p.Ala569Val)
c.1484C>T (p.Ala495Val)
c.1313C>T (p.Ala438Val)
c.1598C>T (p.Ala533Val)
c.1790C>T (p.Ala597Val)
c.1856C>T (p.Ala619Val)
c.237C>T
c.1758C>T
c.*1480C>T (n.*1480C>T)
c.573C>T
c.1469C>T (p.Ala490Val)
c.1526C>T (p.Ala509Val)
c.1745C>T (p.Ala582Val)
n.400C>T
c.1400C>T (p.Ala467Val)
c.*904G>A (n.*904G>A)
c.1541C>T (p.Ala514Val)
c.1568C>T (p.Ala523Val)
c.1607C>T (p.Ala536Val)
n.1549C>T
c.1733C>T (p.Ala578Val)
c.862C>T
c.834C>T
c.1391C>T (p.Ala464Val)
c.752C>T (p.Ala251Val)
c.1502C>T (p.Ala501Val)
c.92C>T (p.Ala31Val)
c.879C>T
c.1565C>T (p.Ala522Val)
n.863C>T
c.1817C>T (p.Ala606Val)
c.1811C>T (p.Ala604Val)
c.1799C>T (p.Ala600Val)
c.1754C>T (p.Ala585Val)
c.1751C>T (p.Ala584Val)
c.1688C>T (p.Ala563Val)
c.1550C>T (p.Ala517Val)
c.1445C>T (p.Ala482Val)
c.1775C>T (p.Ala592Val)
c.1772C>T (p.Ala591Val)
c.1709C>T (p.Ala570Val)
c.1664C>T (p.Ala555Val)
c.1460C>T (p.Ala487Val)
c.1760C>T (p.Ala587Val)
c.1511C>T (p.Ala504Val)
n.3889G>A
n.801C>T
5g.96762297T>ACA445511013CAST,ERAP1c.777T>A (p.Ala259=)
c.1707T>A (p.Ala569=)
c.1485T>A (p.Ala495=)
c.1314T>A (p.Ala438=)
c.1599T>A (p.Ala533=)
c.1791T>A (p.Ala597=)
c.1857T>A (p.Ala619=)
c.238T>A
c.1759T>A
c.*1481T>A (n.*1481T>A)
c.574T>A
c.1470T>A (p.Ala490=)
c.1527T>A (p.Ala509=)
c.1746T>A (p.Ala582=)
n.401T>A
c.1401T>A (p.Ala467=)
c.*903A>T (n.*903A>T)
c.1542T>A (p.Ala514=)
c.1569T>A (p.Ala523=)
c.1608T>A (p.Ala536=)
n.1550T>A
c.1734T>A (p.Ala578=)
c.863T>A
c.835T>A
c.1392T>A (p.Ala464=)
c.753T>A (p.Ala251=)
c.1503T>A (p.Ala501=)
c.93T>A (p.Ala31=)
c.880T>A
c.1566T>A (p.Ala522=)
n.864T>A
c.1818T>A (p.Ala606=)
c.1812T>A (p.Ala604=)
c.1800T>A (p.Ala600=)
c.1755T>A (p.Ala585=)
c.1752T>A (p.Ala584=)
c.1689T>A (p.Ala563=)
c.1551T>A (p.Ala517=)
c.1446T>A (p.Ala482=)
c.1776T>A (p.Ala592=)
c.1773T>A (p.Ala591=)
c.1710T>A (p.Ala570=)
c.1665T>A (p.Ala555=)
c.1461T>A (p.Ala487=)
c.1761T>A (p.Ala587=)
c.1512T>A (p.Ala504=)
n.3888A>T
n.802T>A
5g.96762297T>CCA445511014CAST,ERAP1c.777T>C (p.Ala259=)
c.1707T>C (p.Ala569=)
c.1485T>C (p.Ala495=)
c.1314T>C (p.Ala438=)
c.1599T>C (p.Ala533=)
c.1791T>C (p.Ala597=)
c.1857T>C (p.Ala619=)
c.238T>C
c.1759T>C
c.*1481T>C (n.*1481T>C)
c.574T>C
c.1470T>C (p.Ala490=)
c.1527T>C (p.Ala509=)
c.1746T>C (p.Ala582=)
n.401T>C
c.1401T>C (p.Ala467=)
c.*903A>G (n.*903A>G)
c.1542T>C (p.Ala514=)
c.1569T>C (p.Ala523=)
c.1608T>C (p.Ala536=)
n.1550T>C
c.1734T>C (p.Ala578=)
c.863T>C
c.835T>C
c.1392T>C (p.Ala464=)
c.753T>C (p.Ala251=)
c.1503T>C (p.Ala501=)
c.93T>C (p.Ala31=)
c.880T>C
c.1566T>C (p.Ala522=)
n.864T>C
c.1818T>C (p.Ala606=)
c.1812T>C (p.Ala604=)
c.1800T>C (p.Ala600=)
c.1755T>C (p.Ala585=)
c.1752T>C (p.Ala584=)
c.1689T>C (p.Ala563=)
c.1551T>C (p.Ala517=)
c.1446T>C (p.Ala482=)
c.1776T>C (p.Ala592=)
c.1773T>C (p.Ala591=)
c.1710T>C (p.Ala570=)
c.1665T>C (p.Ala555=)
c.1461T>C (p.Ala487=)
c.1761T>C (p.Ala587=)
c.1512T>C (p.Ala504=)
n.3888A>G
n.802T>C
5g.96762297T>GCA445511015CAST,ERAP1c.777T>G (p.Ala259=)
c.1707T>G (p.Ala569=)
c.1485T>G (p.Ala495=)
c.1314T>G (p.Ala438=)
c.1599T>G (p.Ala533=)
c.1791T>G (p.Ala597=)
c.1857T>G (p.Ala619=)
c.238T>G
c.1759T>G
c.*1481T>G (n.*1481T>G)
c.574T>G
c.1470T>G (p.Ala490=)
c.1527T>G (p.Ala509=)
c.1746T>G (p.Ala582=)
n.401T>G
c.1401T>G (p.Ala467=)
c.*903A>C (n.*903A>C)
c.1542T>G (p.Ala514=)
c.1569T>G (p.Ala523=)
c.1608T>G (p.Ala536=)
n.1550T>G
c.1734T>G (p.Ala578=)
c.863T>G
c.835T>G
c.1392T>G (p.Ala464=)
c.753T>G (p.Ala251=)
c.1503T>G (p.Ala501=)
c.93T>G (p.Ala31=)
c.880T>G
c.1566T>G (p.Ala522=)
n.864T>G
c.1818T>G (p.Ala606=)
c.1812T>G (p.Ala604=)
c.1800T>G (p.Ala600=)
c.1755T>G (p.Ala585=)
c.1752T>G (p.Ala584=)
c.1689T>G (p.Ala563=)
c.1551T>G (p.Ala517=)
c.1446T>G (p.Ala482=)
c.1776T>G (p.Ala592=)
c.1773T>G (p.Ala591=)
c.1710T>G (p.Ala570=)
c.1665T>G (p.Ala555=)
c.1461T>G (p.Ala487=)
c.1761T>G (p.Ala587=)
c.1512T>G (p.Ala504=)
n.3888A>C
n.802T>G
5g.96762298G>ACA360484911CAST,ERAP1c.778G>A (p.Ala260Thr)
c.1708G>A (p.Ala570Thr)
c.1486G>A (p.Ala496Thr)
c.1315G>A (p.Ala439Thr)
c.1600G>A (p.Ala534Thr)
c.1792G>A (p.Ala598Thr)
c.1858G>A (p.Ala620Thr)
c.239G>A
c.1760G>A
c.*1482G>A (n.*1482G>A)
c.575G>A
c.1471G>A (p.Ala491Thr)
c.1528G>A (p.Ala510Thr)
c.1747G>A (p.Ala583Thr)
n.402G>A
c.1402G>A (p.Ala468Thr)
c.*902C>T (n.*902C>T)
c.1543G>A (p.Ala515Thr)
c.1570G>A (p.Ala524Thr)
c.1609G>A (p.Ala537Thr)
n.1551G>A
c.1735G>A (p.Ala579Thr)
c.864G>A
c.836G>A
c.1393G>A (p.Ala465Thr)
c.754G>A (p.Ala252Thr)
c.1504G>A (p.Ala502Thr)
c.94G>A (p.Ala32Thr)
c.881G>A
c.1567G>A (p.Ala523Thr)
n.865G>A
c.1819G>A (p.Ala607Thr)
c.1813G>A (p.Ala605Thr)
c.1801G>A (p.Ala601Thr)
c.1756G>A (p.Ala586Thr)
c.1753G>A (p.Ala585Thr)
c.1690G>A (p.Ala564Thr)
c.1552G>A (p.Ala518Thr)
c.1447G>A (p.Ala483Thr)
c.1777G>A (p.Ala593Thr)
c.1774G>A (p.Ala592Thr)
c.1711G>A (p.Ala571Thr)
c.1666G>A (p.Ala556Thr)
c.1462G>A (p.Ala488Thr)
c.1762G>A (p.Ala588Thr)
c.1513G>A (p.Ala505Thr)
n.3887C>T
n.803G>A
 gnomAD v4
5g.96762298G>CCA360484910CAST,ERAP1c.778G>C (p.Ala260Pro)
c.1708G>C (p.Ala570Pro)
c.1486G>C (p.Ala496Pro)
c.1315G>C (p.Ala439Pro)
c.1600G>C (p.Ala534Pro)
c.1792G>C (p.Ala598Pro)
c.1858G>C (p.Ala620Pro)
c.239G>C
c.1760G>C
c.*1482G>C (n.*1482G>C)
c.575G>C
c.1471G>C (p.Ala491Pro)
c.1528G>C (p.Ala510Pro)
c.1747G>C (p.Ala583Pro)
n.402G>C
c.1402G>C (p.Ala468Pro)
c.*902C>G (n.*902C>G)
c.1543G>C (p.Ala515Pro)
c.1570G>C (p.Ala524Pro)
c.1609G>C (p.Ala537Pro)
n.1551G>C
c.1735G>C (p.Ala579Pro)
c.864G>C
c.836G>C
c.1393G>C (p.Ala465Pro)
c.754G>C (p.Ala252Pro)
c.1504G>C (p.Ala502Pro)
c.94G>C (p.Ala32Pro)
c.881G>C
c.1567G>C (p.Ala523Pro)
n.865G>C
c.1819G>C (p.Ala607Pro)
c.1813G>C (p.Ala605Pro)
c.1801G>C (p.Ala601Pro)
c.1756G>C (p.Ala586Pro)
c.1753G>C (p.Ala585Pro)
c.1690G>C (p.Ala564Pro)
c.1552G>C (p.Ala518Pro)
c.1447G>C (p.Ala483Pro)
c.1777G>C (p.Ala593Pro)
c.1774G>C (p.Ala592Pro)
c.1711G>C (p.Ala571Pro)
c.1666G>C (p.Ala556Pro)
c.1462G>C (p.Ala488Pro)
c.1762G>C (p.Ala588Pro)
c.1513G>C (p.Ala505Pro)
n.3887C>G
n.803G>C
5g.96762298G>TCA360484912CAST,ERAP1c.778G>T (p.Ala260Ser)
c.1708G>T (p.Ala570Ser)
c.1486G>T (p.Ala496Ser)
c.1315G>T (p.Ala439Ser)
c.1600G>T (p.Ala534Ser)
c.1792G>T (p.Ala598Ser)
c.1858G>T (p.Ala620Ser)
c.239G>T
c.1760G>T
c.*1482G>T (n.*1482G>T)
c.575G>T
c.1471G>T (p.Ala491Ser)
c.1528G>T (p.Ala510Ser)
c.1747G>T (p.Ala583Ser)
n.402G>T
c.1402G>T (p.Ala468Ser)
c.*902C>A (n.*902C>A)
c.1543G>T (p.Ala515Ser)
c.1570G>T (p.Ala524Ser)
c.1609G>T (p.Ala537Ser)
n.1551G>T
c.1735G>T (p.Ala579Ser)
c.864G>T
c.836G>T
c.1393G>T (p.Ala465Ser)
c.754G>T (p.Ala252Ser)
c.1504G>T (p.Ala502Ser)
c.94G>T (p.Ala32Ser)
c.881G>T
c.1567G>T (p.Ala523Ser)
n.865G>T
c.1819G>T (p.Ala607Ser)
c.1813G>T (p.Ala605Ser)
c.1801G>T (p.Ala601Ser)
c.1756G>T (p.Ala586Ser)
c.1753G>T (p.Ala585Ser)
c.1690G>T (p.Ala564Ser)
c.1552G>T (p.Ala518Ser)
c.1447G>T (p.Ala483Ser)
c.1777G>T (p.Ala593Ser)
c.1774G>T (p.Ala592Ser)
c.1711G>T (p.Ala571Ser)
c.1666G>T (p.Ala556Ser)
c.1462G>T (p.Ala488Ser)
c.1762G>T (p.Ala588Ser)
c.1513G>T (p.Ala505Ser)
n.3887C>A
n.803G>T
5g.96762299C>ACA360484913CAST,ERAP1c.779C>A (p.Ala260Asp)
c.1709C>A (p.Ala570Asp)
c.1487C>A (p.Ala496Asp)
c.1316C>A (p.Ala439Asp)
c.1601C>A (p.Ala534Asp)
c.1793C>A (p.Ala598Asp)
c.1859C>A (p.Ala620Asp)
c.240C>A
c.1761C>A
c.*1483C>A (n.*1483C>A)
c.576C>A
c.1472C>A (p.Ala491Asp)
c.1529C>A (p.Ala510Asp)
c.1748C>A (p.Ala583Asp)
n.403C>A
c.1403C>A (p.Ala468Asp)
c.*901G>T (n.*901G>T)
c.1544C>A (p.Ala515Asp)
c.1571C>A (p.Ala524Asp)
c.1610C>A (p.Ala537Asp)
n.1552C>A
c.1736C>A (p.Ala579Asp)
c.865C>A
c.837C>A
c.1394C>A (p.Ala465Asp)
c.755C>A (p.Ala252Asp)
c.1505C>A (p.Ala502Asp)
c.95C>A (p.Ala32Asp)
c.882C>A
c.1568C>A (p.Ala523Asp)
n.866C>A
c.1820C>A (p.Ala607Asp)
c.1814C>A (p.Ala605Asp)
c.1802C>A (p.Ala601Asp)
c.1757C>A (p.Ala586Asp)
c.1754C>A (p.Ala585Asp)
c.1691C>A (p.Ala564Asp)
c.1553C>A (p.Ala518Asp)
c.1448C>A (p.Ala483Asp)
c.1778C>A (p.Ala593Asp)
c.1775C>A (p.Ala592Asp)
c.1712C>A (p.Ala571Asp)
c.1667C>A (p.Ala556Asp)
c.1463C>A (p.Ala488Asp)
c.1763C>A (p.Ala588Asp)
c.1514C>A (p.Ala505Asp)
n.3886G>T
n.804C>A
5g.96762299C=CA1565569279CAST,ERAP1c.779C= (p.Ala260=)
c.1709C= (p.Ala570=)
c.1487C= (p.Ala496=)
c.1316C= (p.Ala439=)
c.1601C= (p.Ala534=)
c.1793C= (p.Ala598=)
c.1859C= (p.Ala620=)
c.240C=
c.1761C=
c.*1483C= (n.*1483C=)
c.576C=
c.1472C= (p.Ala491=)
c.1529C= (p.Ala510=)
c.1748C= (p.Ala583=)
n.403C=
c.1403C= (p.Ala468=)
c.*901G= (n.*901G=)
c.1544C= (p.Ala515=)
c.1571C= (p.Ala524=)
c.1610C= (p.Ala537=)
n.1552C=
c.1736C= (p.Ala579=)
c.865C=
c.837C=
c.1394C= (p.Ala465=)
c.755C= (p.Ala252=)
c.1505C= (p.Ala502=)
c.95C= (p.Ala32=)
c.882C=
c.1568C= (p.Ala523=)
n.866C=
c.1820C= (p.Ala607=)
c.1814C= (p.Ala605=)
c.1802C= (p.Ala601=)
c.1757C= (p.Ala586=)
c.1754C= (p.Ala585=)
c.1691C= (p.Ala564=)
c.1553C= (p.Ala518=)
c.1448C= (p.Ala483=)
c.1778C= (p.Ala593=)
c.1775C= (p.Ala592=)
c.1712C= (p.Ala571=)
c.1667C= (p.Ala556=)
c.1463C= (p.Ala488=)
c.1763C= (p.Ala588=)
c.1514C= (p.Ala505=)
n.3886G=
n.804C=
5g.96762299C>GCA360484914CAST,ERAP1c.779C>G (p.Ala260Gly)
c.1709C>G (p.Ala570Gly)
c.1487C>G (p.Ala496Gly)
c.1316C>G (p.Ala439Gly)
c.1601C>G (p.Ala534Gly)
c.1793C>G (p.Ala598Gly)
c.1859C>G (p.Ala620Gly)
c.240C>G
c.1761C>G
c.*1483C>G (n.*1483C>G)
c.576C>G
c.1472C>G (p.Ala491Gly)
c.1529C>G (p.Ala510Gly)
c.1748C>G (p.Ala583Gly)
n.403C>G
c.1403C>G (p.Ala468Gly)
c.*901G>C (n.*901G>C)
c.1544C>G (p.Ala515Gly)
c.1571C>G (p.Ala524Gly)
c.1610C>G (p.Ala537Gly)
n.1552C>G
c.1736C>G (p.Ala579Gly)
c.865C>G
c.837C>G
c.1394C>G (p.Ala465Gly)
c.755C>G (p.Ala252Gly)
c.1505C>G (p.Ala502Gly)
c.95C>G (p.Ala32Gly)
c.882C>G
c.1568C>G (p.Ala523Gly)
n.866C>G
c.1820C>G (p.Ala607Gly)
c.1814C>G (p.Ala605Gly)
c.1802C>G (p.Ala601Gly)
c.1757C>G (p.Ala586Gly)
c.1754C>G (p.Ala585Gly)
c.1691C>G (p.Ala564Gly)
c.1553C>G (p.Ala518Gly)
c.1448C>G (p.Ala483Gly)
c.1778C>G (p.Ala593Gly)
c.1775C>G (p.Ala592Gly)
c.1712C>G (p.Ala571Gly)
c.1667C>G (p.Ala556Gly)
c.1463C>G (p.Ala488Gly)
c.1763C>G (p.Ala588Gly)
c.1514C>G (p.Ala505Gly)
n.3886G>C
n.804C>G
5g.96762299C>TCA3351505CAST,ERAP1c.779C>T (p.Ala260Val)
c.1709C>T (p.Ala570Val)
c.1487C>T (p.Ala496Val)
c.1316C>T (p.Ala439Val)
c.1601C>T (p.Ala534Val)
c.1793C>T (p.Ala598Val)
c.1859C>T (p.Ala620Val)
c.240C>T
c.1761C>T
c.*1483C>T (n.*1483C>T)
c.576C>T
c.1472C>T (p.Ala491Val)
c.1529C>T (p.Ala510Val)
c.1748C>T (p.Ala583Val)
n.403C>T
c.1403C>T (p.Ala468Val)
c.*901G>A (n.*901G>A)
c.1544C>T (p.Ala515Val)
c.1571C>T (p.Ala524Val)
c.1610C>T (p.Ala537Val)
n.1552C>T
c.1736C>T (p.Ala579Val)
c.865C>T
c.837C>T
c.1394C>T (p.Ala465Val)
c.755C>T (p.Ala252Val)
c.1505C>T (p.Ala502Val)
c.95C>T (p.Ala32Val)
c.882C>T
c.1568C>T (p.Ala523Val)
n.866C>T
c.1820C>T (p.Ala607Val)
c.1814C>T (p.Ala605Val)
c.1802C>T (p.Ala601Val)
c.1757C>T (p.Ala586Val)
c.1754C>T (p.Ala585Val)
c.1691C>T (p.Ala564Val)
c.1553C>T (p.Ala518Val)
c.1448C>T (p.Ala483Val)
c.1778C>T (p.Ala593Val)
c.1775C>T (p.Ala592Val)
c.1712C>T (p.Ala571Val)
c.1667C>T (p.Ala556Val)
c.1463C>T (p.Ala488Val)
c.1763C>T (p.Ala588Val)
c.1514C>T (p.Ala505Val)
n.3886G>A
n.804C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762300delCA2674677814CAST,ERAP1c.780del (p.Ala261ProfsTer?)
c.1710del (p.Ala571ProfsTer?)
c.1488del (p.Ala497ProfsTer?)
c.1317del (p.Ala440ProfsTer?)
c.1602del (p.Ala535ProfsTer?)
c.1794del (p.Ala599ProfsTer?)
c.1860del (p.Ala621ProfsTer?)
c.241del
c.1762del
c.*1484del (n.*1484del)
c.577del
c.1473del (p.Ala492ProfsTer?)
c.1530del (p.Ala511ProfsTer?)
c.1749del (p.Ala584ProfsTer?)
n.404del
c.1404del (p.Ala469ProfsTer?)
c.*900del (n.*900del)
c.1545del (p.Ala516ProfsTer?)
c.1572del (p.Ala525ProfsTer?)
c.1611del (p.Ala538ProfsTer?)
n.1553del
c.1737del (p.Ala580ProfsTer?)
c.866del
c.838del
c.1395del (p.Ala466ProfsTer?)
c.756del (p.Ala253ProfsTer?)
c.1506del (p.Ala503ProfsTer?)
c.96del (p.Ala33ProfsTer?)
c.883del
c.1569del (p.Ala524ProfsTer?)
n.867del
c.1821del (p.Ala608ProfsTer?)
c.1815del (p.Ala606ProfsTer?)
c.1803del (p.Ala602ProfsTer?)
c.1758del (p.Ala587ProfsTer?)
c.1755del (p.Ala586ProfsTer?)
c.1692del (p.Ala565ProfsTer?)
c.1554del (p.Ala519ProfsTer?)
c.1449del (p.Ala484ProfsTer?)
c.1779del (p.Ala594ProfsTer?)
c.1776del (p.Ala593ProfsTer?)
c.1713del (p.Ala572ProfsTer?)
c.1668del (p.Ala557ProfsTer?)
c.1464del (p.Ala489ProfsTer?)
c.1764del (p.Ala589ProfsTer?)
c.1515del (p.Ala506ProfsTer?)
n.3885del
n.805del
 gnomAD v4
5g.96762300T>ACA445511018CAST,ERAP1c.780T>A (p.Ala260=)
c.1710T>A (p.Ala570=)
c.1488T>A (p.Ala496=)
c.1317T>A (p.Ala439=)
c.1602T>A (p.Ala534=)
c.1794T>A (p.Ala598=)
c.1860T>A (p.Ala620=)
c.241T>A
c.1762T>A
c.*1484T>A (n.*1484T>A)
c.577T>A
c.1473T>A (p.Ala491=)
c.1530T>A (p.Ala510=)
c.1749T>A (p.Ala583=)
n.404T>A
c.1404T>A (p.Ala468=)
c.*900A>T (n.*900A>T)
c.1545T>A (p.Ala515=)
c.1572T>A (p.Ala524=)
c.1611T>A (p.Ala537=)
n.1553T>A
c.1737T>A (p.Ala579=)
c.866T>A
c.838T>A
c.1395T>A (p.Ala465=)
c.756T>A (p.Ala252=)
c.1506T>A (p.Ala502=)
c.96T>A (p.Ala32=)
c.883T>A
c.1569T>A (p.Ala523=)
n.867T>A
c.1821T>A (p.Ala607=)
c.1815T>A (p.Ala605=)
c.1803T>A (p.Ala601=)
c.1758T>A (p.Ala586=)
c.1755T>A (p.Ala585=)
c.1692T>A (p.Ala564=)
c.1554T>A (p.Ala518=)
c.1449T>A (p.Ala483=)
c.1779T>A (p.Ala593=)
c.1776T>A (p.Ala592=)
c.1713T>A (p.Ala571=)
c.1668T>A (p.Ala556=)
c.1464T>A (p.Ala488=)
c.1764T>A (p.Ala588=)
c.1515T>A (p.Ala505=)
n.3885A>T
n.805T>A
5g.96762300T>CCA445511019CAST,ERAP1c.780T>C (p.Ala260=)
c.1710T>C (p.Ala570=)
c.1488T>C (p.Ala496=)
c.1317T>C (p.Ala439=)
c.1602T>C (p.Ala534=)
c.1794T>C (p.Ala598=)
c.1860T>C (p.Ala620=)
c.241T>C
c.1762T>C
c.*1484T>C (n.*1484T>C)
c.577T>C
c.1473T>C (p.Ala491=)
c.1530T>C (p.Ala510=)
c.1749T>C (p.Ala583=)
n.404T>C
c.1404T>C (p.Ala468=)
c.*900A>G (n.*900A>G)
c.1545T>C (p.Ala515=)
c.1572T>C (p.Ala524=)
c.1611T>C (p.Ala537=)
n.1553T>C
c.1737T>C (p.Ala579=)
c.866T>C
c.838T>C
c.1395T>C (p.Ala465=)
c.756T>C (p.Ala252=)
c.1506T>C (p.Ala502=)
c.96T>C (p.Ala32=)
c.883T>C
c.1569T>C (p.Ala523=)
n.867T>C
c.1821T>C (p.Ala607=)
c.1815T>C (p.Ala605=)
c.1803T>C (p.Ala601=)
c.1758T>C (p.Ala586=)
c.1755T>C (p.Ala585=)
c.1692T>C (p.Ala564=)
c.1554T>C (p.Ala518=)
c.1449T>C (p.Ala483=)
c.1779T>C (p.Ala593=)
c.1776T>C (p.Ala592=)
c.1713T>C (p.Ala571=)
c.1668T>C (p.Ala556=)
c.1464T>C (p.Ala488=)
c.1764T>C (p.Ala588=)
c.1515T>C (p.Ala505=)
n.3885A>G
n.805T>C
 gnomAD v4
5g.96762300T>GCA445511020CAST,ERAP1c.780T>G (p.Ala260=)
c.1710T>G (p.Ala570=)
c.1488T>G (p.Ala496=)
c.1317T>G (p.Ala439=)
c.1602T>G (p.Ala534=)
c.1794T>G (p.Ala598=)
c.1860T>G (p.Ala620=)
c.241T>G
c.1762T>G
c.*1484T>G (n.*1484T>G)
c.577T>G
c.1473T>G (p.Ala491=)
c.1530T>G (p.Ala510=)
c.1749T>G (p.Ala583=)
n.404T>G
c.1404T>G (p.Ala468=)
c.*900A>C (n.*900A>C)
c.1545T>G (p.Ala515=)
c.1572T>G (p.Ala524=)
c.1611T>G (p.Ala537=)
n.1553T>G
c.1737T>G (p.Ala579=)
c.866T>G
c.838T>G
c.1395T>G (p.Ala465=)
c.756T>G (p.Ala252=)
c.1506T>G (p.Ala502=)
c.96T>G (p.Ala32=)
c.883T>G
c.1569T>G (p.Ala523=)
n.867T>G
c.1821T>G (p.Ala607=)
c.1815T>G (p.Ala605=)
c.1803T>G (p.Ala601=)
c.1758T>G (p.Ala586=)
c.1755T>G (p.Ala585=)
c.1692T>G (p.Ala564=)
c.1554T>G (p.Ala518=)
c.1449T>G (p.Ala483=)
c.1779T>G (p.Ala593=)
c.1776T>G (p.Ala592=)
c.1713T>G (p.Ala571=)
c.1668T>G (p.Ala556=)
c.1464T>G (p.Ala488=)
c.1764T>G (p.Ala588=)
c.1515T>G (p.Ala505=)
n.3885A>C
n.805T>G
5g.96762301G>ACA360484915CAST,ERAP1c.781G>A (p.Ala261Thr)
c.1711G>A (p.Ala571Thr)
c.1489G>A (p.Ala497Thr)
c.1318G>A (p.Ala440Thr)
c.1603G>A (p.Ala535Thr)
c.1795G>A (p.Ala599Thr)
c.1861G>A (p.Ala621Thr)
c.242G>A
c.1763G>A
c.*1485G>A (n.*1485G>A)
c.578G>A
c.1474G>A (p.Ala492Thr)
c.1531G>A (p.Ala511Thr)
c.1750G>A (p.Ala584Thr)
n.405G>A
c.1405G>A (p.Ala469Thr)
c.*899C>T (n.*899C>T)
c.1546G>A (p.Ala516Thr)
c.1573G>A (p.Ala525Thr)
c.1612G>A (p.Ala538Thr)
n.1554G>A
c.1738G>A (p.Ala580Thr)
c.867G>A
c.839G>A
c.1396G>A (p.Ala466Thr)
c.757G>A (p.Ala253Thr)
c.1507G>A (p.Ala503Thr)
c.97G>A (p.Ala33Thr)
c.884G>A
c.1570G>A (p.Ala524Thr)
n.868G>A
c.1822G>A (p.Ala608Thr)
c.1816G>A (p.Ala606Thr)
c.1804G>A (p.Ala602Thr)
c.1759G>A (p.Ala587Thr)
c.1756G>A (p.Ala586Thr)
c.1693G>A (p.Ala565Thr)
c.1555G>A (p.Ala519Thr)
c.1450G>A (p.Ala484Thr)
c.1780G>A (p.Ala594Thr)
c.1777G>A (p.Ala593Thr)
c.1714G>A (p.Ala572Thr)
c.1669G>A (p.Ala557Thr)
c.1465G>A (p.Ala489Thr)
c.1765G>A (p.Ala589Thr)
c.1516G>A (p.Ala506Thr)
n.3884C>T
n.806G>A
 gnomAD v4
5g.96762301G>CCA360484916CAST,ERAP1c.781G>C (p.Ala261Pro)
c.1711G>C (p.Ala571Pro)
c.1489G>C (p.Ala497Pro)
c.1318G>C (p.Ala440Pro)
c.1603G>C (p.Ala535Pro)
c.1795G>C (p.Ala599Pro)
c.1861G>C (p.Ala621Pro)
c.242G>C
c.1763G>C
c.*1485G>C (n.*1485G>C)
c.578G>C
c.1474G>C (p.Ala492Pro)
c.1531G>C (p.Ala511Pro)
c.1750G>C (p.Ala584Pro)
n.405G>C
c.1405G>C (p.Ala469Pro)
c.*899C>G (n.*899C>G)
c.1546G>C (p.Ala516Pro)
c.1573G>C (p.Ala525Pro)
c.1612G>C (p.Ala538Pro)
n.1554G>C
c.1738G>C (p.Ala580Pro)
c.867G>C
c.839G>C
c.1396G>C (p.Ala466Pro)
c.757G>C (p.Ala253Pro)
c.1507G>C (p.Ala503Pro)
c.97G>C (p.Ala33Pro)
c.884G>C
c.1570G>C (p.Ala524Pro)
n.868G>C
c.1822G>C (p.Ala608Pro)
c.1816G>C (p.Ala606Pro)
c.1804G>C (p.Ala602Pro)
c.1759G>C (p.Ala587Pro)
c.1756G>C (p.Ala586Pro)
c.1693G>C (p.Ala565Pro)
c.1555G>C (p.Ala519Pro)
c.1450G>C (p.Ala484Pro)
c.1780G>C (p.Ala594Pro)
c.1777G>C (p.Ala593Pro)
c.1714G>C (p.Ala572Pro)
c.1669G>C (p.Ala557Pro)
c.1465G>C (p.Ala489Pro)
c.1765G>C (p.Ala589Pro)
c.1516G>C (p.Ala506Pro)
n.3884C>G
n.806G>C
5g.96762301G=CA1565569280CAST,ERAP1c.781G= (p.Ala261=)
c.1711G= (p.Ala571=)
c.1489G= (p.Ala497=)
c.1318G= (p.Ala440=)
c.1603G= (p.Ala535=)
c.1795G= (p.Ala599=)
c.1861G= (p.Ala621=)
c.242G=
c.1763G=
c.*1485G= (n.*1485G=)
c.578G=
c.1474G= (p.Ala492=)
c.1531G= (p.Ala511=)
c.1750G= (p.Ala584=)
n.405G=
c.1405G= (p.Ala469=)
c.*899C= (n.*899C=)
c.1546G= (p.Ala516=)
c.1573G= (p.Ala525=)
c.1612G= (p.Ala538=)
n.1554G=
c.1738G= (p.Ala580=)
c.867G=
c.839G=
c.1396G= (p.Ala466=)
c.757G= (p.Ala253=)
c.1507G= (p.Ala503=)
c.97G= (p.Ala33=)
c.884G=
c.1570G= (p.Ala524=)
n.868G=
c.1822G= (p.Ala608=)
c.1816G= (p.Ala606=)
c.1804G= (p.Ala602=)
c.1759G= (p.Ala587=)
c.1756G= (p.Ala586=)
c.1693G= (p.Ala565=)
c.1555G= (p.Ala519=)
c.1450G= (p.Ala484=)
c.1780G= (p.Ala594=)
c.1777G= (p.Ala593=)
c.1714G= (p.Ala572=)
c.1669G= (p.Ala557=)
c.1465G= (p.Ala489=)
c.1765G= (p.Ala589=)
c.1516G= (p.Ala506=)
n.3884C=
n.806G=
5g.96762301G>TCA3351506CAST,ERAP1c.781G>T (p.Ala261Ser)
c.1711G>T (p.Ala571Ser)
c.1489G>T (p.Ala497Ser)
c.1318G>T (p.Ala440Ser)
c.1603G>T (p.Ala535Ser)
c.1795G>T (p.Ala599Ser)
c.1861G>T (p.Ala621Ser)
c.242G>T
c.1763G>T
c.*1485G>T (n.*1485G>T)
c.578G>T
c.1474G>T (p.Ala492Ser)
c.1531G>T (p.Ala511Ser)
c.1750G>T (p.Ala584Ser)
n.405G>T
c.1405G>T (p.Ala469Ser)
c.*899C>A (n.*899C>A)
c.1546G>T (p.Ala516Ser)
c.1573G>T (p.Ala525Ser)
c.1612G>T (p.Ala538Ser)
n.1554G>T
c.1738G>T (p.Ala580Ser)
c.867G>T
c.839G>T
c.1396G>T (p.Ala466Ser)
c.757G>T (p.Ala253Ser)
c.1507G>T (p.Ala503Ser)
c.97G>T (p.Ala33Ser)
c.884G>T
c.1570G>T (p.Ala524Ser)
n.868G>T
c.1822G>T (p.Ala608Ser)
c.1816G>T (p.Ala606Ser)
c.1804G>T (p.Ala602Ser)
c.1759G>T (p.Ala587Ser)
c.1756G>T (p.Ala586Ser)
c.1693G>T (p.Ala565Ser)
c.1555G>T (p.Ala519Ser)
c.1450G>T (p.Ala484Ser)
c.1780G>T (p.Ala594Ser)
c.1777G>T (p.Ala593Ser)
c.1714G>T (p.Ala572Ser)
c.1669G>T (p.Ala557Ser)
c.1465G>T (p.Ala489Ser)
c.1765G>T (p.Ala589Ser)
c.1516G>T (p.Ala506Ser)
n.3884C>A
n.806G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762302C>ACA360484917CAST,ERAP1c.782C>A (p.Ala261Asp)
c.1712C>A (p.Ala571Asp)
c.1490C>A (p.Ala497Asp)
c.1319C>A (p.Ala440Asp)
c.1604C>A (p.Ala535Asp)
c.1796C>A (p.Ala599Asp)
c.1862C>A (p.Ala621Asp)
c.243C>A
c.1764C>A
c.*1486C>A (n.*1486C>A)
c.579C>A
c.1475C>A (p.Ala492Asp)
c.1532C>A (p.Ala511Asp)
c.1751C>A (p.Ala584Asp)
n.406C>A
c.1406C>A (p.Ala469Asp)
c.*898G>T (n.*898G>T)
c.1547C>A (p.Ala516Asp)
c.1574C>A (p.Ala525Asp)
c.1613C>A (p.Ala538Asp)
n.1555C>A
c.1739C>A (p.Ala580Asp)
c.868C>A
c.840C>A
c.1397C>A (p.Ala466Asp)
c.758C>A (p.Ala253Asp)
c.1508C>A (p.Ala503Asp)
c.98C>A (p.Ala33Asp)
c.885C>A
c.1571C>A (p.Ala524Asp)
n.869C>A
c.1823C>A (p.Ala608Asp)
c.1817C>A (p.Ala606Asp)
c.1805C>A (p.Ala602Asp)
c.1760C>A (p.Ala587Asp)
c.1757C>A (p.Ala586Asp)
c.1694C>A (p.Ala565Asp)
c.1556C>A (p.Ala519Asp)
c.1451C>A (p.Ala484Asp)
c.1781C>A (p.Ala594Asp)
c.1778C>A (p.Ala593Asp)
c.1715C>A (p.Ala572Asp)
c.1670C>A (p.Ala557Asp)
c.1466C>A (p.Ala489Asp)
c.1766C>A (p.Ala589Asp)
c.1517C>A (p.Ala506Asp)
n.3883G>T
n.807C>A
5g.96762302C>GCA360484918CAST,ERAP1c.782C>G (p.Ala261Gly)
c.1712C>G (p.Ala571Gly)
c.1490C>G (p.Ala497Gly)
c.1319C>G (p.Ala440Gly)
c.1604C>G (p.Ala535Gly)
c.1796C>G (p.Ala599Gly)
c.1862C>G (p.Ala621Gly)
c.243C>G
c.1764C>G
c.*1486C>G (n.*1486C>G)
c.579C>G
c.1475C>G (p.Ala492Gly)
c.1532C>G (p.Ala511Gly)
c.1751C>G (p.Ala584Gly)
n.406C>G
c.1406C>G (p.Ala469Gly)
c.*898G>C (n.*898G>C)
c.1547C>G (p.Ala516Gly)
c.1574C>G (p.Ala525Gly)
c.1613C>G (p.Ala538Gly)
n.1555C>G
c.1739C>G (p.Ala580Gly)
c.868C>G
c.840C>G
c.1397C>G (p.Ala466Gly)
c.758C>G (p.Ala253Gly)
c.1508C>G (p.Ala503Gly)
c.98C>G (p.Ala33Gly)
c.885C>G
c.1571C>G (p.Ala524Gly)
n.869C>G
c.1823C>G (p.Ala608Gly)
c.1817C>G (p.Ala606Gly)
c.1805C>G (p.Ala602Gly)
c.1760C>G (p.Ala587Gly)
c.1757C>G (p.Ala586Gly)
c.1694C>G (p.Ala565Gly)
c.1556C>G (p.Ala519Gly)
c.1451C>G (p.Ala484Gly)
c.1781C>G (p.Ala594Gly)
c.1778C>G (p.Ala593Gly)
c.1715C>G (p.Ala572Gly)
c.1670C>G (p.Ala557Gly)
c.1466C>G (p.Ala489Gly)
c.1766C>G (p.Ala589Gly)
c.1517C>G (p.Ala506Gly)
n.3883G>C
n.807C>G
5g.96762302C>TCA360484919CAST,ERAP1c.782C>T (p.Ala261Val)
c.1712C>T (p.Ala571Val)
c.1490C>T (p.Ala497Val)
c.1319C>T (p.Ala440Val)
c.1604C>T (p.Ala535Val)
c.1796C>T (p.Ala599Val)
c.1862C>T (p.Ala621Val)
c.243C>T
c.1764C>T
c.*1486C>T (n.*1486C>T)
c.579C>T
c.1475C>T (p.Ala492Val)
c.1532C>T (p.Ala511Val)
c.1751C>T (p.Ala584Val)
n.406C>T
c.1406C>T (p.Ala469Val)
c.*898G>A (n.*898G>A)
c.1547C>T (p.Ala516Val)
c.1574C>T (p.Ala525Val)
c.1613C>T (p.Ala538Val)
n.1555C>T
c.1739C>T (p.Ala580Val)
c.868C>T
c.840C>T
c.1397C>T (p.Ala466Val)
c.758C>T (p.Ala253Val)
c.1508C>T (p.Ala503Val)
c.98C>T (p.Ala33Val)
c.885C>T
c.1571C>T (p.Ala524Val)
n.869C>T
c.1823C>T (p.Ala608Val)
c.1817C>T (p.Ala606Val)
c.1805C>T (p.Ala602Val)
c.1760C>T (p.Ala587Val)
c.1757C>T (p.Ala586Val)
c.1694C>T (p.Ala565Val)
c.1556C>T (p.Ala519Val)
c.1451C>T (p.Ala484Val)
c.1781C>T (p.Ala594Val)
c.1778C>T (p.Ala593Val)
c.1715C>T (p.Ala572Val)
c.1670C>T (p.Ala557Val)
c.1466C>T (p.Ala489Val)
c.1766C>T (p.Ala589Val)
c.1517C>T (p.Ala506Val)
n.3883G>A
n.807C>T
5g.96762303C>ACA445511027CAST,ERAP1c.783C>A (p.Ala261=)
c.1713C>A (p.Ala571=)
c.1491C>A (p.Ala497=)
c.1320C>A (p.Ala440=)
c.1605C>A (p.Ala535=)
c.1797C>A (p.Ala599=)
c.1863C>A (p.Ala621=)
c.244C>A
c.1765C>A
c.*1487C>A (n.*1487C>A)
c.580C>A
c.1476C>A (p.Ala492=)
c.1533C>A (p.Ala511=)
c.1752C>A (p.Ala584=)
n.407C>A
c.1407C>A (p.Ala469=)
c.*897G>T (n.*897G>T)
c.1548C>A (p.Ala516=)
c.1575C>A (p.Ala525=)
c.1614C>A (p.Ala538=)
n.1556C>A
c.1740C>A (p.Ala580=)
c.869C>A
c.841C>A
c.1398C>A (p.Ala466=)
c.759C>A (p.Ala253=)
c.1509C>A (p.Ala503=)
c.99C>A (p.Ala33=)
c.886C>A
c.1572C>A (p.Ala524=)
n.870C>A
c.1824C>A (p.Ala608=)
c.1818C>A (p.Ala606=)
c.1806C>A (p.Ala602=)
c.1761C>A (p.Ala587=)
c.1758C>A (p.Ala586=)
c.1695C>A (p.Ala565=)
c.1557C>A (p.Ala519=)
c.1452C>A (p.Ala484=)
c.1782C>A (p.Ala594=)
c.1779C>A (p.Ala593=)
c.1716C>A (p.Ala572=)
c.1671C>A (p.Ala557=)
c.1467C>A (p.Ala489=)
c.1767C>A (p.Ala589=)
c.1518C>A (p.Ala506=)
n.3882G>T
n.808C>A
5g.96762303C>GCA445511028CAST,ERAP1c.783C>G (p.Ala261=)
c.1713C>G (p.Ala571=)
c.1491C>G (p.Ala497=)
c.1320C>G (p.Ala440=)
c.1605C>G (p.Ala535=)
c.1797C>G (p.Ala599=)
c.1863C>G (p.Ala621=)
c.244C>G
c.1765C>G
c.*1487C>G (n.*1487C>G)
c.580C>G
c.1476C>G (p.Ala492=)
c.1533C>G (p.Ala511=)
c.1752C>G (p.Ala584=)
n.407C>G
c.1407C>G (p.Ala469=)
c.*897G>C (n.*897G>C)
c.1548C>G (p.Ala516=)
c.1575C>G (p.Ala525=)
c.1614C>G (p.Ala538=)
n.1556C>G
c.1740C>G (p.Ala580=)
c.869C>G
c.841C>G
c.1398C>G (p.Ala466=)
c.759C>G (p.Ala253=)
c.1509C>G (p.Ala503=)
c.99C>G (p.Ala33=)
c.886C>G
c.1572C>G (p.Ala524=)
n.870C>G
c.1824C>G (p.Ala608=)
c.1818C>G (p.Ala606=)
c.1806C>G (p.Ala602=)
c.1761C>G (p.Ala587=)
c.1758C>G (p.Ala586=)
c.1695C>G (p.Ala565=)
c.1557C>G (p.Ala519=)
c.1452C>G (p.Ala484=)
c.1782C>G (p.Ala594=)
c.1779C>G (p.Ala593=)
c.1716C>G (p.Ala572=)
c.1671C>G (p.Ala557=)
c.1467C>G (p.Ala489=)
c.1767C>G (p.Ala589=)
c.1518C>G (p.Ala506=)
n.3882G>C
n.808C>G
5g.96762303C>TCA445511026CAST,ERAP1c.783C>T (p.Ala261=)
c.1713C>T (p.Ala571=)
c.1491C>T (p.Ala497=)
c.1320C>T (p.Ala440=)
c.1605C>T (p.Ala535=)
c.1797C>T (p.Ala599=)
c.1863C>T (p.Ala621=)
c.244C>T
c.1765C>T
c.*1487C>T (n.*1487C>T)
c.580C>T
c.1476C>T (p.Ala492=)
c.1533C>T (p.Ala511=)
c.1752C>T (p.Ala584=)
n.407C>T
c.1407C>T (p.Ala469=)
c.*897G>A (n.*897G>A)
c.1548C>T (p.Ala516=)
c.1575C>T (p.Ala525=)
c.1614C>T (p.Ala538=)
n.1556C>T
c.1740C>T (p.Ala580=)
c.869C>T
c.841C>T
c.1398C>T (p.Ala466=)
c.759C>T (p.Ala253=)
c.1509C>T (p.Ala503=)
c.99C>T (p.Ala33=)
c.886C>T
c.1572C>T (p.Ala524=)
n.870C>T
c.1824C>T (p.Ala608=)
c.1818C>T (p.Ala606=)
c.1806C>T (p.Ala602=)
c.1761C>T (p.Ala587=)
c.1758C>T (p.Ala586=)
c.1695C>T (p.Ala565=)
c.1557C>T (p.Ala519=)
c.1452C>T (p.Ala484=)
c.1782C>T (p.Ala594=)
c.1779C>T (p.Ala593=)
c.1716C>T (p.Ala572=)
c.1671C>T (p.Ala557=)
c.1467C>T (p.Ala489=)
c.1767C>T (p.Ala589=)
c.1518C>T (p.Ala506=)
n.3882G>A
n.808C>T
5g.96762304A>CCA360484920CAST,ERAP1c.784A>C (p.Ile262Leu)
c.1714A>C (p.Ile572Leu)
c.1492A>C (p.Ile498Leu)
c.1321A>C (p.Ile441Leu)
c.1606A>C (p.Ile536Leu)
c.1798A>C (p.Ile600Leu)
c.1864A>C (p.Ile622Leu)
c.245A>C
c.1766A>C
c.*1488A>C (n.*1488A>C)
c.581A>C
c.1477A>C (p.Ile493Leu)
c.1534A>C (p.Ile512Leu)
c.1753A>C (p.Ile585Leu)
n.408A>C
c.1408A>C (p.Ile470Leu)
c.*896T>G (n.*896T>G)
c.1549A>C (p.Ile517Leu)
c.1576A>C (p.Ile526Leu)
c.1615A>C (p.Ile539Leu)
n.1557A>C
c.1741A>C (p.Ile581Leu)
c.870A>C
c.842A>C
c.1399A>C (p.Ile467Leu)
c.760A>C (p.Ile254Leu)
c.1510A>C (p.Ile504Leu)
c.100A>C (p.Ile34Leu)
c.887A>C
c.1573A>C (p.Ile525Leu)
n.871A>C
c.1825A>C (p.Ile609Leu)
c.1819A>C (p.Ile607Leu)
c.1807A>C (p.Ile603Leu)
c.1762A>C (p.Ile588Leu)
c.1759A>C (p.Ile587Leu)
c.1696A>C (p.Ile566Leu)
c.1558A>C (p.Ile520Leu)
c.1453A>C (p.Ile485Leu)
c.1783A>C (p.Ile595Leu)
c.1780A>C (p.Ile594Leu)
c.1717A>C (p.Ile573Leu)
c.1672A>C (p.Ile558Leu)
c.1468A>C (p.Ile490Leu)
c.1768A>C (p.Ile590Leu)
c.1519A>C (p.Ile507Leu)
n.3881T>G
n.809A>C
5g.96762304A>GCA360484921CAST,ERAP1c.784A>G (p.Ile262Val)
c.1714A>G (p.Ile572Val)
c.1492A>G (p.Ile498Val)
c.1321A>G (p.Ile441Val)
c.1606A>G (p.Ile536Val)
c.1798A>G (p.Ile600Val)
c.1864A>G (p.Ile622Val)
c.245A>G
c.1766A>G
c.*1488A>G (n.*1488A>G)
c.581A>G
c.1477A>G (p.Ile493Val)
c.1534A>G (p.Ile512Val)
c.1753A>G (p.Ile585Val)
n.408A>G
c.1408A>G (p.Ile470Val)
c.*896T>C (n.*896T>C)
c.1549A>G (p.Ile517Val)
c.1576A>G (p.Ile526Val)
c.1615A>G (p.Ile539Val)
n.1557A>G
c.1741A>G (p.Ile581Val)
c.870A>G
c.842A>G
c.1399A>G (p.Ile467Val)
c.760A>G (p.Ile254Val)
c.1510A>G (p.Ile504Val)
c.100A>G (p.Ile34Val)
c.887A>G
c.1573A>G (p.Ile525Val)
n.871A>G
c.1825A>G (p.Ile609Val)
c.1819A>G (p.Ile607Val)
c.1807A>G (p.Ile603Val)
c.1762A>G (p.Ile588Val)
c.1759A>G (p.Ile587Val)
c.1696A>G (p.Ile566Val)
c.1558A>G (p.Ile520Val)
c.1453A>G (p.Ile485Val)
c.1783A>G (p.Ile595Val)
c.1780A>G (p.Ile594Val)
c.1717A>G (p.Ile573Val)
c.1672A>G (p.Ile558Val)
c.1468A>G (p.Ile490Val)
c.1768A>G (p.Ile590Val)
c.1519A>G (p.Ile507Val)
n.3881T>C
n.809A>G
 gnomAD v4
5g.96762304A>TCA360484922CAST,ERAP1c.784A>T (p.Ile262Phe)
c.1714A>T (p.Ile572Phe)
c.1492A>T (p.Ile498Phe)
c.1321A>T (p.Ile441Phe)
c.1606A>T (p.Ile536Phe)
c.1798A>T (p.Ile600Phe)
c.1864A>T (p.Ile622Phe)
c.245A>T
c.1766A>T
c.*1488A>T (n.*1488A>T)
c.581A>T
c.1477A>T (p.Ile493Phe)
c.1534A>T (p.Ile512Phe)
c.1753A>T (p.Ile585Phe)
n.408A>T
c.1408A>T (p.Ile470Phe)
c.*896T>A (n.*896T>A)
c.1549A>T (p.Ile517Phe)
c.1576A>T (p.Ile526Phe)
c.1615A>T (p.Ile539Phe)
n.1557A>T
c.1741A>T (p.Ile581Phe)
c.870A>T
c.842A>T
c.1399A>T (p.Ile467Phe)
c.760A>T (p.Ile254Phe)
c.1510A>T (p.Ile504Phe)
c.100A>T (p.Ile34Phe)
c.887A>T
c.1573A>T (p.Ile525Phe)
n.871A>T
c.1825A>T (p.Ile609Phe)
c.1819A>T (p.Ile607Phe)
c.1807A>T (p.Ile603Phe)
c.1762A>T (p.Ile588Phe)
c.1759A>T (p.Ile587Phe)
c.1696A>T (p.Ile566Phe)
c.1558A>T (p.Ile520Phe)
c.1453A>T (p.Ile485Phe)
c.1783A>T (p.Ile595Phe)
c.1780A>T (p.Ile594Phe)
c.1717A>T (p.Ile573Phe)
c.1672A>T (p.Ile558Phe)
c.1468A>T (p.Ile490Phe)
c.1768A>T (p.Ile590Phe)
c.1519A>T (p.Ile507Phe)
n.3881T>A
n.809A>T
5g.96762305T>ACA360484923CAST,ERAP1c.785T>A (p.Ile262Asn)
c.1715T>A (p.Ile572Asn)
c.1493T>A (p.Ile498Asn)
c.1322T>A (p.Ile441Asn)
c.1607T>A (p.Ile536Asn)
c.1799T>A (p.Ile600Asn)
c.1865T>A (p.Ile622Asn)
c.246T>A
c.1767T>A
c.*1489T>A (n.*1489T>A)
c.582T>A
c.1478T>A (p.Ile493Asn)
c.1535T>A (p.Ile512Asn)
c.1754T>A (p.Ile585Asn)
n.409T>A
c.1409T>A (p.Ile470Asn)
c.*895A>T (n.*895A>T)
c.1550T>A (p.Ile517Asn)
c.1577T>A (p.Ile526Asn)
c.1616T>A (p.Ile539Asn)
n.1558T>A
c.1742T>A (p.Ile581Asn)
c.871T>A
c.843T>A
c.1400T>A (p.Ile467Asn)
c.761T>A (p.Ile254Asn)
c.1511T>A (p.Ile504Asn)
c.101T>A (p.Ile34Asn)
c.888T>A
c.1574T>A (p.Ile525Asn)
n.872T>A
c.1826T>A (p.Ile609Asn)
c.1820T>A (p.Ile607Asn)
c.1808T>A (p.Ile603Asn)
c.1763T>A (p.Ile588Asn)
c.1760T>A (p.Ile587Asn)
c.1697T>A (p.Ile566Asn)
c.1559T>A (p.Ile520Asn)
c.1454T>A (p.Ile485Asn)
c.1784T>A (p.Ile595Asn)
c.1781T>A (p.Ile594Asn)
c.1718T>A (p.Ile573Asn)
c.1673T>A (p.Ile558Asn)
c.1469T>A (p.Ile490Asn)
c.1769T>A (p.Ile590Asn)
c.1520T>A (p.Ile507Asn)
n.3880A>T
n.810T>A
5g.96762305T>CCA360484924CAST,ERAP1c.785T>C (p.Ile262Thr)
c.1715T>C (p.Ile572Thr)
c.1493T>C (p.Ile498Thr)
c.1322T>C (p.Ile441Thr)
c.1607T>C (p.Ile536Thr)
c.1799T>C (p.Ile600Thr)
c.1865T>C (p.Ile622Thr)
c.246T>C
c.1767T>C
c.*1489T>C (n.*1489T>C)
c.582T>C
c.1478T>C (p.Ile493Thr)
c.1535T>C (p.Ile512Thr)
c.1754T>C (p.Ile585Thr)
n.409T>C
c.1409T>C (p.Ile470Thr)
c.*895A>G (n.*895A>G)
c.1550T>C (p.Ile517Thr)
c.1577T>C (p.Ile526Thr)
c.1616T>C (p.Ile539Thr)
n.1558T>C
c.1742T>C (p.Ile581Thr)
c.871T>C
c.843T>C
c.1400T>C (p.Ile467Thr)
c.761T>C (p.Ile254Thr)
c.1511T>C (p.Ile504Thr)
c.101T>C (p.Ile34Thr)
c.888T>C
c.1574T>C (p.Ile525Thr)
n.872T>C
c.1826T>C (p.Ile609Thr)
c.1820T>C (p.Ile607Thr)
c.1808T>C (p.Ile603Thr)
c.1763T>C (p.Ile588Thr)
c.1760T>C (p.Ile587Thr)
c.1697T>C (p.Ile566Thr)
c.1559T>C (p.Ile520Thr)
c.1454T>C (p.Ile485Thr)
c.1784T>C (p.Ile595Thr)
c.1781T>C (p.Ile594Thr)
c.1718T>C (p.Ile573Thr)
c.1673T>C (p.Ile558Thr)
c.1469T>C (p.Ile490Thr)
c.1769T>C (p.Ile590Thr)
c.1520T>C (p.Ile507Thr)
n.3880A>G
n.810T>C
5g.96762305T>GCA360484925CAST,ERAP1c.785T>G (p.Ile262Ser)
c.1715T>G (p.Ile572Ser)
c.1493T>G (p.Ile498Ser)
c.1322T>G (p.Ile441Ser)
c.1607T>G (p.Ile536Ser)
c.1799T>G (p.Ile600Ser)
c.1865T>G (p.Ile622Ser)
c.246T>G
c.1767T>G
c.*1489T>G (n.*1489T>G)
c.582T>G
c.1478T>G (p.Ile493Ser)
c.1535T>G (p.Ile512Ser)
c.1754T>G (p.Ile585Ser)
n.409T>G
c.1409T>G (p.Ile470Ser)
c.*895A>C (n.*895A>C)
c.1550T>G (p.Ile517Ser)
c.1577T>G (p.Ile526Ser)
c.1616T>G (p.Ile539Ser)
n.1558T>G
c.1742T>G (p.Ile581Ser)
c.871T>G
c.843T>G
c.1400T>G (p.Ile467Ser)
c.761T>G (p.Ile254Ser)
c.1511T>G (p.Ile504Ser)
c.101T>G (p.Ile34Ser)
c.888T>G
c.1574T>G (p.Ile525Ser)
n.872T>G
c.1826T>G (p.Ile609Ser)
c.1820T>G (p.Ile607Ser)
c.1808T>G (p.Ile603Ser)
c.1763T>G (p.Ile588Ser)
c.1760T>G (p.Ile587Ser)
c.1697T>G (p.Ile566Ser)
c.1559T>G (p.Ile520Ser)
c.1454T>G (p.Ile485Ser)
c.1784T>G (p.Ile595Ser)
c.1781T>G (p.Ile594Ser)
c.1718T>G (p.Ile573Ser)
c.1673T>G (p.Ile558Ser)
c.1469T>G (p.Ile490Ser)
c.1769T>G (p.Ile590Ser)
c.1520T>G (p.Ile507Ser)
n.3880A>C
n.810T>G
5g.96762306C>ACA445511034CAST,ERAP1c.786C>A (p.Ile262=)
c.1716C>A (p.Ile572=)
c.1494C>A (p.Ile498=)
c.1323C>A (p.Ile441=)
c.1608C>A (p.Ile536=)
c.1800C>A (p.Ile600=)
c.1866C>A (p.Ile622=)
c.247C>A
c.1768C>A
c.*1490C>A (n.*1490C>A)
c.583C>A
c.1479C>A (p.Ile493=)
c.1536C>A (p.Ile512=)
c.1755C>A (p.Ile585=)
n.410C>A
c.1410C>A (p.Ile470=)
c.*894G>T (n.*894G>T)
c.1551C>A (p.Ile517=)
c.1578C>A (p.Ile526=)
c.1617C>A (p.Ile539=)
n.1559C>A
c.1743C>A (p.Ile581=)
c.872C>A
c.844C>A
c.1401C>A (p.Ile467=)
c.762C>A (p.Ile254=)
c.1512C>A (p.Ile504=)
c.102C>A (p.Ile34=)
c.889C>A
c.1575C>A (p.Ile525=)
n.873C>A
c.1827C>A (p.Ile609=)
c.1821C>A (p.Ile607=)
c.1809C>A (p.Ile603=)
c.1764C>A (p.Ile588=)
c.1761C>A (p.Ile587=)
c.1698C>A (p.Ile566=)
c.1560C>A (p.Ile520=)
c.1455C>A (p.Ile485=)
c.1785C>A (p.Ile595=)
c.1782C>A (p.Ile594=)
c.1719C>A (p.Ile573=)
c.1674C>A (p.Ile558=)
c.1470C>A (p.Ile490=)
c.1770C>A (p.Ile590=)
c.1521C>A (p.Ile507=)
n.3879G>T
n.811C>A
5g.96762306C=CA1565569281CAST,ERAP1c.786C= (p.Ile262=)
c.1716C= (p.Ile572=)
c.1494C= (p.Ile498=)
c.1323C= (p.Ile441=)
c.1608C= (p.Ile536=)
c.1800C= (p.Ile600=)
c.1866C= (p.Ile622=)
c.247C=
c.1768C=
c.*1490C= (n.*1490C=)
c.583C=
c.1479C= (p.Ile493=)
c.1536C= (p.Ile512=)
c.1755C= (p.Ile585=)
n.410C=
c.1410C= (p.Ile470=)
c.*894G= (n.*894G=)
c.1551C= (p.Ile517=)
c.1578C= (p.Ile526=)
c.1617C= (p.Ile539=)
n.1559C=
c.1743C= (p.Ile581=)
c.872C=
c.844C=
c.1401C= (p.Ile467=)
c.762C= (p.Ile254=)
c.1512C= (p.Ile504=)
c.102C= (p.Ile34=)
c.889C=
c.1575C= (p.Ile525=)
n.873C=
c.1827C= (p.Ile609=)
c.1821C= (p.Ile607=)
c.1809C= (p.Ile603=)
c.1764C= (p.Ile588=)
c.1761C= (p.Ile587=)
c.1698C= (p.Ile566=)
c.1560C= (p.Ile520=)
c.1455C= (p.Ile485=)
c.1785C= (p.Ile595=)
c.1782C= (p.Ile594=)
c.1719C= (p.Ile573=)
c.1674C= (p.Ile558=)
c.1470C= (p.Ile490=)
c.1770C= (p.Ile590=)
c.1521C= (p.Ile507=)
n.3879G=
n.811C=
5g.96762306C>GCA360484926CAST,ERAP1c.786C>G (p.Ile262Met)
c.1716C>G (p.Ile572Met)
c.1494C>G (p.Ile498Met)
c.1323C>G (p.Ile441Met)
c.1608C>G (p.Ile536Met)
c.1800C>G (p.Ile600Met)
c.1866C>G (p.Ile622Met)
c.247C>G
c.1768C>G
c.*1490C>G (n.*1490C>G)
c.583C>G
c.1479C>G (p.Ile493Met)
c.1536C>G (p.Ile512Met)
c.1755C>G (p.Ile585Met)
n.410C>G
c.1410C>G (p.Ile470Met)
c.*894G>C (n.*894G>C)
c.1551C>G (p.Ile517Met)
c.1578C>G (p.Ile526Met)
c.1617C>G (p.Ile539Met)
n.1559C>G
c.1743C>G (p.Ile581Met)
c.872C>G
c.844C>G
c.1401C>G (p.Ile467Met)
c.762C>G (p.Ile254Met)
c.1512C>G (p.Ile504Met)
c.102C>G (p.Ile34Met)
c.889C>G
c.1575C>G (p.Ile525Met)
n.873C>G
c.1827C>G (p.Ile609Met)
c.1821C>G (p.Ile607Met)
c.1809C>G (p.Ile603Met)
c.1764C>G (p.Ile588Met)
c.1761C>G (p.Ile587Met)
c.1698C>G (p.Ile566Met)
c.1560C>G (p.Ile520Met)
c.1455C>G (p.Ile485Met)
c.1785C>G (p.Ile595Met)
c.1782C>G (p.Ile594Met)
c.1719C>G (p.Ile573Met)
c.1674C>G (p.Ile558Met)
c.1470C>G (p.Ile490Met)
c.1770C>G (p.Ile590Met)
c.1521C>G (p.Ile507Met)
n.3879G>C
n.811C>G
5g.96762306C>TCA3351507CAST,ERAP1c.786C>T (p.Ile262=)
c.1716C>T (p.Ile572=)
c.1494C>T (p.Ile498=)
c.1323C>T (p.Ile441=)
c.1608C>T (p.Ile536=)
c.1800C>T (p.Ile600=)
c.1866C>T (p.Ile622=)
c.247C>T
c.1768C>T
c.*1490C>T (n.*1490C>T)
c.583C>T
c.1479C>T (p.Ile493=)
c.1536C>T (p.Ile512=)
c.1755C>T (p.Ile585=)
n.410C>T
c.1410C>T (p.Ile470=)
c.*894G>A (n.*894G>A)
c.1551C>T (p.Ile517=)
c.1578C>T (p.Ile526=)
c.1617C>T (p.Ile539=)
n.1559C>T
c.1743C>T (p.Ile581=)
c.872C>T
c.844C>T
c.1401C>T (p.Ile467=)
c.762C>T (p.Ile254=)
c.1512C>T (p.Ile504=)
c.102C>T (p.Ile34=)
c.889C>T
c.1575C>T (p.Ile525=)
n.873C>T
c.1827C>T (p.Ile609=)
c.1821C>T (p.Ile607=)
c.1809C>T (p.Ile603=)
c.1764C>T (p.Ile588=)
c.1761C>T (p.Ile587=)
c.1698C>T (p.Ile566=)
c.1560C>T (p.Ile520=)
c.1455C>T (p.Ile485=)
c.1785C>T (p.Ile595=)
c.1782C>T (p.Ile594=)
c.1719C>T (p.Ile573=)
c.1674C>T (p.Ile558=)
c.1470C>T (p.Ile490=)
c.1770C>T (p.Ile590=)
c.1521C>T (p.Ile507=)
n.3879G>A
n.811C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762307T>ACA360484927CAST,ERAP1c.787T>A (p.Ser263Thr)
c.1717T>A (p.Ser573Thr)
c.1495T>A (p.Ser499Thr)
c.1324T>A (p.Ser442Thr)
c.1609T>A (p.Ser537Thr)
c.1801T>A (p.Ser601Thr)
c.1867T>A (p.Ser623Thr)
c.248T>A
c.1769T>A
c.*1491T>A (n.*1491T>A)
c.584T>A
c.1480T>A (p.Ser494Thr)
c.1537T>A (p.Ser513Thr)
c.1756T>A (p.Ser586Thr)
n.411T>A
c.1411T>A (p.Ser471Thr)
c.*893A>T (n.*893A>T)
c.1552T>A (p.Ser518Thr)
c.1579T>A (p.Ser527Thr)
c.1618T>A (p.Ser540Thr)
n.1560T>A
c.1744T>A (p.Ser582Thr)
c.873T>A
c.845T>A
c.1402T>A (p.Ser468Thr)
c.763T>A (p.Ser255Thr)
c.1513T>A (p.Ser505Thr)
c.103T>A (p.Ser35Thr)
c.890T>A
c.1576T>A (p.Ser526Thr)
n.874T>A
c.1828T>A (p.Ser610Thr)
c.1822T>A (p.Ser608Thr)
c.1810T>A (p.Ser604Thr)
c.1765T>A (p.Ser589Thr)
c.1762T>A (p.Ser588Thr)
c.1699T>A (p.Ser567Thr)
c.1561T>A (p.Ser521Thr)
c.1456T>A (p.Ser486Thr)
c.1786T>A (p.Ser596Thr)
c.1783T>A (p.Ser595Thr)
c.1720T>A (p.Ser574Thr)
c.1675T>A (p.Ser559Thr)
c.1471T>A (p.Ser491Thr)
c.1771T>A (p.Ser591Thr)
c.1522T>A (p.Ser508Thr)
n.3878A>T
n.812T>A
5g.96762307T>CCA360484928CAST,ERAP1c.787T>C (p.Ser263Pro)
c.1717T>C (p.Ser573Pro)
c.1495T>C (p.Ser499Pro)
c.1324T>C (p.Ser442Pro)
c.1609T>C (p.Ser537Pro)
c.1801T>C (p.Ser601Pro)
c.1867T>C (p.Ser623Pro)
c.248T>C
c.1769T>C
c.*1491T>C (n.*1491T>C)
c.584T>C
c.1480T>C (p.Ser494Pro)
c.1537T>C (p.Ser513Pro)
c.1756T>C (p.Ser586Pro)
n.411T>C
c.1411T>C (p.Ser471Pro)
c.*893A>G (n.*893A>G)
c.1552T>C (p.Ser518Pro)
c.1579T>C (p.Ser527Pro)
c.1618T>C (p.Ser540Pro)
n.1560T>C
c.1744T>C (p.Ser582Pro)
c.873T>C
c.845T>C
c.1402T>C (p.Ser468Pro)
c.763T>C (p.Ser255Pro)
c.1513T>C (p.Ser505Pro)
c.103T>C (p.Ser35Pro)
c.890T>C
c.1576T>C (p.Ser526Pro)
n.874T>C
c.1828T>C (p.Ser610Pro)
c.1822T>C (p.Ser608Pro)
c.1810T>C (p.Ser604Pro)
c.1765T>C (p.Ser589Pro)
c.1762T>C (p.Ser588Pro)
c.1699T>C (p.Ser567Pro)
c.1561T>C (p.Ser521Pro)
c.1456T>C (p.Ser486Pro)
c.1786T>C (p.Ser596Pro)
c.1783T>C (p.Ser595Pro)
c.1720T>C (p.Ser574Pro)
c.1675T>C (p.Ser559Pro)
c.1471T>C (p.Ser491Pro)
c.1771T>C (p.Ser591Pro)
c.1522T>C (p.Ser508Pro)
n.3878A>G
n.812T>C
 gnomAD v4
5g.96762307T>GCA360484929CAST,ERAP1c.787T>G (p.Ser263Ala)
c.1717T>G (p.Ser573Ala)
c.1495T>G (p.Ser499Ala)
c.1324T>G (p.Ser442Ala)
c.1609T>G (p.Ser537Ala)
c.1801T>G (p.Ser601Ala)
c.1867T>G (p.Ser623Ala)
c.248T>G
c.1769T>G
c.*1491T>G (n.*1491T>G)
c.584T>G
c.1480T>G (p.Ser494Ala)
c.1537T>G (p.Ser513Ala)
c.1756T>G (p.Ser586Ala)
n.411T>G
c.1411T>G (p.Ser471Ala)
c.*893A>C (n.*893A>C)
c.1552T>G (p.Ser518Ala)
c.1579T>G (p.Ser527Ala)
c.1618T>G (p.Ser540Ala)
n.1560T>G
c.1744T>G (p.Ser582Ala)
c.873T>G
c.845T>G
c.1402T>G (p.Ser468Ala)
c.763T>G (p.Ser255Ala)
c.1513T>G (p.Ser505Ala)
c.103T>G (p.Ser35Ala)
c.890T>G
c.1576T>G (p.Ser526Ala)
n.874T>G
c.1828T>G (p.Ser610Ala)
c.1822T>G (p.Ser608Ala)
c.1810T>G (p.Ser604Ala)
c.1765T>G (p.Ser589Ala)
c.1762T>G (p.Ser588Ala)
c.1699T>G (p.Ser567Ala)
c.1561T>G (p.Ser521Ala)
c.1456T>G (p.Ser486Ala)
c.1786T>G (p.Ser596Ala)
c.1783T>G (p.Ser595Ala)
c.1720T>G (p.Ser574Ala)
c.1675T>G (p.Ser559Ala)
c.1471T>G (p.Ser491Ala)
c.1771T>G (p.Ser591Ala)
c.1522T>G (p.Ser508Ala)
n.3878A>C
n.812T>G
5g.96762308C>ACA360484930CAST,ERAP1c.788C>A (p.Ser263Tyr)
c.1718C>A (p.Ser573Tyr)
c.1496C>A (p.Ser499Tyr)
c.1325C>A (p.Ser442Tyr)
c.1610C>A (p.Ser537Tyr)
c.1802C>A (p.Ser601Tyr)
c.1868C>A (p.Ser623Tyr)
c.249C>A
c.1770C>A
c.*1492C>A (n.*1492C>A)
c.585C>A
c.1481C>A (p.Ser494Tyr)
c.1538C>A (p.Ser513Tyr)
c.1757C>A (p.Ser586Tyr)
n.412C>A
c.1412C>A (p.Ser471Tyr)
c.*892G>T (n.*892G>T)
c.1553C>A (p.Ser518Tyr)
c.1580C>A (p.Ser527Tyr)
c.1619C>A (p.Ser540Tyr)
n.1561C>A
c.1745C>A (p.Ser582Tyr)
c.874C>A
c.846C>A
c.1403C>A (p.Ser468Tyr)
c.764C>A (p.Ser255Tyr)
c.1514C>A (p.Ser505Tyr)
c.104C>A (p.Ser35Tyr)
c.891C>A
c.1577C>A (p.Ser526Tyr)
n.875C>A
c.1829C>A (p.Ser610Tyr)
c.1823C>A (p.Ser608Tyr)
c.1811C>A (p.Ser604Tyr)
c.1766C>A (p.Ser589Tyr)
c.1763C>A (p.Ser588Tyr)
c.1700C>A (p.Ser567Tyr)
c.1562C>A (p.Ser521Tyr)
c.1457C>A (p.Ser486Tyr)
c.1787C>A (p.Ser596Tyr)
c.1784C>A (p.Ser595Tyr)
c.1721C>A (p.Ser574Tyr)
c.1676C>A (p.Ser559Tyr)
c.1472C>A (p.Ser491Tyr)
c.1772C>A (p.Ser591Tyr)
c.1523C>A (p.Ser508Tyr)
n.3877G>T
n.813C>A
5g.96762308C>GCA360484931CAST,ERAP1c.788C>G (p.Ser263Cys)
c.1718C>G (p.Ser573Cys)
c.1496C>G (p.Ser499Cys)
c.1325C>G (p.Ser442Cys)
c.1610C>G (p.Ser537Cys)
c.1802C>G (p.Ser601Cys)
c.1868C>G (p.Ser623Cys)
c.249C>G
c.1770C>G
c.*1492C>G (n.*1492C>G)
c.585C>G
c.1481C>G (p.Ser494Cys)
c.1538C>G (p.Ser513Cys)
c.1757C>G (p.Ser586Cys)
n.412C>G
c.1412C>G (p.Ser471Cys)
c.*892G>C (n.*892G>C)
c.1553C>G (p.Ser518Cys)
c.1580C>G (p.Ser527Cys)
c.1619C>G (p.Ser540Cys)
n.1561C>G
c.1745C>G (p.Ser582Cys)
c.874C>G
c.846C>G
c.1403C>G (p.Ser468Cys)
c.764C>G (p.Ser255Cys)
c.1514C>G (p.Ser505Cys)
c.104C>G (p.Ser35Cys)
c.891C>G
c.1577C>G (p.Ser526Cys)
n.875C>G
c.1829C>G (p.Ser610Cys)
c.1823C>G (p.Ser608Cys)
c.1811C>G (p.Ser604Cys)
c.1766C>G (p.Ser589Cys)
c.1763C>G (p.Ser588Cys)
c.1700C>G (p.Ser567Cys)
c.1562C>G (p.Ser521Cys)
c.1457C>G (p.Ser486Cys)
c.1787C>G (p.Ser596Cys)
c.1784C>G (p.Ser595Cys)
c.1721C>G (p.Ser574Cys)
c.1676C>G (p.Ser559Cys)
c.1472C>G (p.Ser491Cys)
c.1772C>G (p.Ser591Cys)
c.1523C>G (p.Ser508Cys)
n.3877G>C
n.813C>G
5g.96762308C>TCA360484932CAST,ERAP1c.788C>T (p.Ser263Phe)
c.1718C>T (p.Ser573Phe)
c.1496C>T (p.Ser499Phe)
c.1325C>T (p.Ser442Phe)
c.1610C>T (p.Ser537Phe)
c.1802C>T (p.Ser601Phe)
c.1868C>T (p.Ser623Phe)
c.249C>T
c.1770C>T
c.*1492C>T (n.*1492C>T)
c.585C>T
c.1481C>T (p.Ser494Phe)
c.1538C>T (p.Ser513Phe)
c.1757C>T (p.Ser586Phe)
n.412C>T
c.1412C>T (p.Ser471Phe)
c.*892G>A (n.*892G>A)
c.1553C>T (p.Ser518Phe)
c.1580C>T (p.Ser527Phe)
c.1619C>T (p.Ser540Phe)
n.1561C>T
c.1745C>T (p.Ser582Phe)
c.874C>T
c.846C>T
c.1403C>T (p.Ser468Phe)
c.764C>T (p.Ser255Phe)
c.1514C>T (p.Ser505Phe)
c.104C>T (p.Ser35Phe)
c.891C>T
c.1577C>T (p.Ser526Phe)
n.875C>T
c.1829C>T (p.Ser610Phe)
c.1823C>T (p.Ser608Phe)
c.1811C>T (p.Ser604Phe)
c.1766C>T (p.Ser589Phe)
c.1763C>T (p.Ser588Phe)
c.1700C>T (p.Ser567Phe)
c.1562C>T (p.Ser521Phe)
c.1457C>T (p.Ser486Phe)
c.1787C>T (p.Ser596Phe)
c.1784C>T (p.Ser595Phe)
c.1721C>T (p.Ser574Phe)
c.1676C>T (p.Ser559Phe)
c.1472C>T (p.Ser491Phe)
c.1772C>T (p.Ser591Phe)
c.1523C>T (p.Ser508Phe)
n.3877G>A
n.813C>T
5g.96762309T>ACA445511042CAST,ERAP1c.789T>A (p.Ser263=)
c.1719T>A (p.Ser573=)
c.1497T>A (p.Ser499=)
c.1326T>A (p.Ser442=)
c.1611T>A (p.Ser537=)
c.1803T>A (p.Ser601=)
c.1869T>A (p.Ser623=)
c.250T>A
c.1771T>A
c.*1493T>A (n.*1493T>A)
c.586T>A
c.1482T>A (p.Ser494=)
c.1539T>A (p.Ser513=)
c.1758T>A (p.Ser586=)
n.413T>A
c.1413T>A (p.Ser471=)
c.*891A>T (n.*891A>T)
c.1554T>A (p.Ser518=)
c.1581T>A (p.Ser527=)
c.1620T>A (p.Ser540=)
n.1562T>A
c.1746T>A (p.Ser582=)
c.875T>A
c.847T>A
c.1404T>A (p.Ser468=)
c.765T>A (p.Ser255=)
c.1515T>A (p.Ser505=)
c.105T>A (p.Ser35=)
c.892T>A
c.1578T>A (p.Ser526=)
n.876T>A
c.1830T>A (p.Ser610=)
c.1824T>A (p.Ser608=)
c.1812T>A (p.Ser604=)
c.1767T>A (p.Ser589=)
c.1764T>A (p.Ser588=)
c.1701T>A (p.Ser567=)
c.1563T>A (p.Ser521=)
c.1458T>A (p.Ser486=)
c.1788T>A (p.Ser596=)
c.1785T>A (p.Ser595=)
c.1722T>A (p.Ser574=)
c.1677T>A (p.Ser559=)
c.1473T>A (p.Ser491=)
c.1773T>A (p.Ser591=)
c.1524T>A (p.Ser508=)
n.3876A>T
n.814T>A
5g.96762309T>CCA445511043CAST,ERAP1c.789T>C (p.Ser263=)
c.1719T>C (p.Ser573=)
c.1497T>C (p.Ser499=)
c.1326T>C (p.Ser442=)
c.1611T>C (p.Ser537=)
c.1803T>C (p.Ser601=)
c.1869T>C (p.Ser623=)
c.250T>C
c.1771T>C
c.*1493T>C (n.*1493T>C)
c.586T>C
c.1482T>C (p.Ser494=)
c.1539T>C (p.Ser513=)
c.1758T>C (p.Ser586=)
n.413T>C
c.1413T>C (p.Ser471=)
c.*891A>G (n.*891A>G)
c.1554T>C (p.Ser518=)
c.1581T>C (p.Ser527=)
c.1620T>C (p.Ser540=)
n.1562T>C
c.1746T>C (p.Ser582=)
c.875T>C
c.847T>C
c.1404T>C (p.Ser468=)
c.765T>C (p.Ser255=)
c.1515T>C (p.Ser505=)
c.105T>C (p.Ser35=)
c.892T>C
c.1578T>C (p.Ser526=)
n.876T>C
c.1830T>C (p.Ser610=)
c.1824T>C (p.Ser608=)
c.1812T>C (p.Ser604=)
c.1767T>C (p.Ser589=)
c.1764T>C (p.Ser588=)
c.1701T>C (p.Ser567=)
c.1563T>C (p.Ser521=)
c.1458T>C (p.Ser486=)
c.1788T>C (p.Ser596=)
c.1785T>C (p.Ser595=)
c.1722T>C (p.Ser574=)
c.1677T>C (p.Ser559=)
c.1473T>C (p.Ser491=)
c.1773T>C (p.Ser591=)
c.1524T>C (p.Ser508=)
n.3876A>G
n.814T>C
 gnomAD v4
5g.96762309T>GCA445511044CAST,ERAP1c.789T>G (p.Ser263=)
c.1719T>G (p.Ser573=)
c.1497T>G (p.Ser499=)
c.1326T>G (p.Ser442=)
c.1611T>G (p.Ser537=)
c.1803T>G (p.Ser601=)
c.1869T>G (p.Ser623=)
c.250T>G
c.1771T>G
c.*1493T>G (n.*1493T>G)
c.586T>G
c.1482T>G (p.Ser494=)
c.1539T>G (p.Ser513=)
c.1758T>G (p.Ser586=)
n.413T>G
c.1413T>G (p.Ser471=)
c.*891A>C (n.*891A>C)
c.1554T>G (p.Ser518=)
c.1581T>G (p.Ser527=)
c.1620T>G (p.Ser540=)
n.1562T>G
c.1746T>G (p.Ser582=)
c.875T>G
c.847T>G
c.1404T>G (p.Ser468=)
c.765T>G (p.Ser255=)
c.1515T>G (p.Ser505=)
c.105T>G (p.Ser35=)
c.892T>G
c.1578T>G (p.Ser526=)
n.876T>G
c.1830T>G (p.Ser610=)
c.1824T>G (p.Ser608=)
c.1812T>G (p.Ser604=)
c.1767T>G (p.Ser589=)
c.1764T>G (p.Ser588=)
c.1701T>G (p.Ser567=)
c.1563T>G (p.Ser521=)
c.1458T>G (p.Ser486=)
c.1788T>G (p.Ser596=)
c.1785T>G (p.Ser595=)
c.1722T>G (p.Ser574=)
c.1677T>G (p.Ser559=)
c.1473T>G (p.Ser491=)
c.1773T>G (p.Ser591=)
c.1524T>G (p.Ser508=)
n.3876A>C
n.814T>G
5g.96762310G>ACA360484935CAST,ERAP1c.790G>A (p.Glu264Lys)
c.1720G>A (p.Glu574Lys)
c.1498G>A (p.Glu500Lys)
c.1327G>A (p.Glu443Lys)
c.1612G>A (p.Glu538Lys)
c.1804G>A (p.Glu602Lys)
c.1870G>A (p.Glu624Lys)
c.251G>A
c.1772G>A
c.*1494G>A (n.*1494G>A)
c.587G>A
c.1483G>A (p.Glu495Lys)
c.1540G>A (p.Glu514Lys)
c.1759G>A (p.Glu587Lys)
n.414G>A
c.1414G>A (p.Glu472Lys)
c.*890C>T (n.*890C>T)
c.1555G>A (p.Glu519Lys)
c.1582G>A (p.Glu528Lys)
c.1621G>A (p.Glu541Lys)
n.1563G>A
c.1747G>A (p.Glu583Lys)
c.876G>A
c.848G>A
c.1405G>A (p.Glu469Lys)
c.766G>A (p.Glu256Lys)
c.1516G>A (p.Glu506Lys)
c.106G>A (p.Glu36Lys)
c.893G>A
c.1579G>A (p.Glu527Lys)
n.877G>A
c.1831G>A (p.Glu611Lys)
c.1825G>A (p.Glu609Lys)
c.1813G>A (p.Glu605Lys)
c.1768G>A (p.Glu590Lys)
c.1765G>A (p.Glu589Lys)
c.1702G>A (p.Glu568Lys)
c.1564G>A (p.Glu522Lys)
c.1459G>A (p.Glu487Lys)
c.1789G>A (p.Glu597Lys)
c.1786G>A (p.Glu596Lys)
c.1723G>A (p.Glu575Lys)
c.1678G>A (p.Glu560Lys)
c.1474G>A (p.Glu492Lys)
c.1774G>A (p.Glu592Lys)
c.1525G>A (p.Glu509Lys)
n.3875C>T
n.815G>A
5g.96762310G>CCA360484933CAST,ERAP1c.790G>C (p.Glu264Gln)
c.1720G>C (p.Glu574Gln)
c.1498G>C (p.Glu500Gln)
c.1327G>C (p.Glu443Gln)
c.1612G>C (p.Glu538Gln)
c.1804G>C (p.Glu602Gln)
c.1870G>C (p.Glu624Gln)
c.251G>C
c.1772G>C
c.*1494G>C (n.*1494G>C)
c.587G>C
c.1483G>C (p.Glu495Gln)
c.1540G>C (p.Glu514Gln)
c.1759G>C (p.Glu587Gln)
n.414G>C
c.1414G>C (p.Glu472Gln)
c.*890C>G (n.*890C>G)
c.1555G>C (p.Glu519Gln)
c.1582G>C (p.Glu528Gln)
c.1621G>C (p.Glu541Gln)
n.1563G>C
c.1747G>C (p.Glu583Gln)
c.876G>C
c.848G>C
c.1405G>C (p.Glu469Gln)
c.766G>C (p.Glu256Gln)
c.1516G>C (p.Glu506Gln)
c.106G>C (p.Glu36Gln)
c.893G>C
c.1579G>C (p.Glu527Gln)
n.877G>C
c.1831G>C (p.Glu611Gln)
c.1825G>C (p.Glu609Gln)
c.1813G>C (p.Glu605Gln)
c.1768G>C (p.Glu590Gln)
c.1765G>C (p.Glu589Gln)
c.1702G>C (p.Glu568Gln)
c.1564G>C (p.Glu522Gln)
c.1459G>C (p.Glu487Gln)
c.1789G>C (p.Glu597Gln)
c.1786G>C (p.Glu596Gln)
c.1723G>C (p.Glu575Gln)
c.1678G>C (p.Glu560Gln)
c.1474G>C (p.Glu492Gln)
c.1774G>C (p.Glu592Gln)
c.1525G>C (p.Glu509Gln)
n.3875C>G
n.815G>C
 gnomAD v4
5g.96762310G>TCA360484934CAST,ERAP1c.790G>T (p.Glu264Ter)
c.1720G>T (p.Glu574Ter)
c.1498G>T (p.Glu500Ter)
c.1327G>T (p.Glu443Ter)
c.1612G>T (p.Glu538Ter)
c.1804G>T (p.Glu602Ter)
c.1870G>T (p.Glu624Ter)
c.251G>T
c.1772G>T
c.*1494G>T (n.*1494G>T)
c.587G>T
c.1483G>T (p.Glu495Ter)
c.1540G>T (p.Glu514Ter)
c.1759G>T (p.Glu587Ter)
n.414G>T
c.1414G>T (p.Glu472Ter)
c.*890C>A (n.*890C>A)
c.1555G>T (p.Glu519Ter)
c.1582G>T (p.Glu528Ter)
c.1621G>T (p.Glu541Ter)
n.1563G>T
c.1747G>T (p.Glu583Ter)
c.876G>T
c.848G>T
c.1405G>T (p.Glu469Ter)
c.766G>T (p.Glu256Ter)
c.1516G>T (p.Glu506Ter)
c.106G>T (p.Glu36Ter)
c.893G>T
c.1579G>T (p.Glu527Ter)
n.877G>T
c.1831G>T (p.Glu611Ter)
c.1825G>T (p.Glu609Ter)
c.1813G>T (p.Glu605Ter)
c.1768G>T (p.Glu590Ter)
c.1765G>T (p.Glu589Ter)
c.1702G>T (p.Glu568Ter)
c.1564G>T (p.Glu522Ter)
c.1459G>T (p.Glu487Ter)
c.1789G>T (p.Glu597Ter)
c.1786G>T (p.Glu596Ter)
c.1723G>T (p.Glu575Ter)
c.1678G>T (p.Glu560Ter)
c.1474G>T (p.Glu492Ter)
c.1774G>T (p.Glu592Ter)
c.1525G>T (p.Glu509Ter)
n.3875C>A
n.815G>T
5g.96762311A>CCA360484936CAST,ERAP1c.791A>C (p.Glu264Ala)
c.1721A>C (p.Glu574Ala)
c.1499A>C (p.Glu500Ala)
c.1328A>C (p.Glu443Ala)
c.1613A>C (p.Glu538Ala)
c.1805A>C (p.Glu602Ala)
c.1871A>C (p.Glu624Ala)
c.252A>C
c.1773A>C
c.*1495A>C (n.*1495A>C)
c.588A>C
c.1484A>C (p.Glu495Ala)
c.1541A>C (p.Glu514Ala)
c.1760A>C (p.Glu587Ala)
n.415A>C
c.1415A>C (p.Glu472Ala)
c.*889T>G (n.*889T>G)
c.1556A>C (p.Glu519Ala)
c.1583A>C (p.Glu528Ala)
c.1622A>C (p.Glu541Ala)
n.1564A>C
c.1748A>C (p.Glu583Ala)
c.877A>C
c.849A>C
c.1406A>C (p.Glu469Ala)
c.767A>C (p.Glu256Ala)
c.1517A>C (p.Glu506Ala)
c.107A>C (p.Glu36Ala)
c.894A>C
c.1580A>C (p.Glu527Ala)
n.878A>C
c.1832A>C (p.Glu611Ala)
c.1826A>C (p.Glu609Ala)
c.1814A>C (p.Glu605Ala)
c.1769A>C (p.Glu590Ala)
c.1766A>C (p.Glu589Ala)
c.1703A>C (p.Glu568Ala)
c.1565A>C (p.Glu522Ala)
c.1460A>C (p.Glu487Ala)
c.1790A>C (p.Glu597Ala)
c.1787A>C (p.Glu596Ala)
c.1724A>C (p.Glu575Ala)
c.1679A>C (p.Glu560Ala)
c.1475A>C (p.Glu492Ala)
c.1775A>C (p.Glu592Ala)
c.1526A>C (p.Glu509Ala)
n.3874T>G
n.816A>C
5g.96762311A>GCA360484937CAST,ERAP1c.791A>G (p.Glu264Gly)
c.1721A>G (p.Glu574Gly)
c.1499A>G (p.Glu500Gly)
c.1328A>G (p.Glu443Gly)
c.1613A>G (p.Glu538Gly)
c.1805A>G (p.Glu602Gly)
c.1871A>G (p.Glu624Gly)
c.252A>G
c.1773A>G
c.*1495A>G (n.*1495A>G)
c.588A>G
c.1484A>G (p.Glu495Gly)
c.1541A>G (p.Glu514Gly)
c.1760A>G (p.Glu587Gly)
n.415A>G
c.1415A>G (p.Glu472Gly)
c.*889T>C (n.*889T>C)
c.1556A>G (p.Glu519Gly)
c.1583A>G (p.Glu528Gly)
c.1622A>G (p.Glu541Gly)
n.1564A>G
c.1748A>G (p.Glu583Gly)
c.877A>G
c.849A>G
c.1406A>G (p.Glu469Gly)
c.767A>G (p.Glu256Gly)
c.1517A>G (p.Glu506Gly)
c.107A>G (p.Glu36Gly)
c.894A>G
c.1580A>G (p.Glu527Gly)
n.878A>G
c.1832A>G (p.Glu611Gly)
c.1826A>G (p.Glu609Gly)
c.1814A>G (p.Glu605Gly)
c.1769A>G (p.Glu590Gly)
c.1766A>G (p.Glu589Gly)
c.1703A>G (p.Glu568Gly)
c.1565A>G (p.Glu522Gly)
c.1460A>G (p.Glu487Gly)
c.1790A>G (p.Glu597Gly)
c.1787A>G (p.Glu596Gly)
c.1724A>G (p.Glu575Gly)
c.1679A>G (p.Glu560Gly)
c.1475A>G (p.Glu492Gly)
c.1775A>G (p.Glu592Gly)
c.1526A>G (p.Glu509Gly)
n.3874T>C
n.816A>G
5g.96762311A>TCA360484938CAST,ERAP1c.791A>T (p.Glu264Val)
c.1721A>T (p.Glu574Val)
c.1499A>T (p.Glu500Val)
c.1328A>T (p.Glu443Val)
c.1613A>T (p.Glu538Val)
c.1805A>T (p.Glu602Val)
c.1871A>T (p.Glu624Val)
c.252A>T
c.1773A>T
c.*1495A>T (n.*1495A>T)
c.588A>T
c.1484A>T (p.Glu495Val)
c.1541A>T (p.Glu514Val)
c.1760A>T (p.Glu587Val)
n.415A>T
c.1415A>T (p.Glu472Val)
c.*889T>A (n.*889T>A)
c.1556A>T (p.Glu519Val)
c.1583A>T (p.Glu528Val)
c.1622A>T (p.Glu541Val)
n.1564A>T
c.1748A>T (p.Glu583Val)
c.877A>T
c.849A>T
c.1406A>T (p.Glu469Val)
c.767A>T (p.Glu256Val)
c.1517A>T (p.Glu506Val)
c.107A>T (p.Glu36Val)
c.894A>T
c.1580A>T (p.Glu527Val)
n.878A>T
c.1832A>T (p.Glu611Val)
c.1826A>T (p.Glu609Val)
c.1814A>T (p.Glu605Val)
c.1769A>T (p.Glu590Val)
c.1766A>T (p.Glu589Val)
c.1703A>T (p.Glu568Val)
c.1565A>T (p.Glu522Val)
c.1460A>T (p.Glu487Val)
c.1790A>T (p.Glu597Val)
c.1787A>T (p.Glu596Val)
c.1724A>T (p.Glu575Val)
c.1679A>T (p.Glu560Val)
c.1475A>T (p.Glu492Val)
c.1775A>T (p.Glu592Val)
c.1526A>T (p.Glu509Val)
n.3874T>A
n.816A>T
5g.96762312A=CA1565569282CAST,ERAP1c.792A= (p.Glu264=)
c.1722A= (p.Glu574=)
c.1500A= (p.Glu500=)
c.1329A= (p.Glu443=)
c.1614A= (p.Glu538=)
c.1806A= (p.Glu602=)
c.1872A= (p.Glu624=)
c.253A=
c.1774A=
c.*1496A= (n.*1496A=)
c.589A=
c.1485A= (p.Glu495=)
c.1542A= (p.Glu514=)
c.1761A= (p.Glu587=)
n.416A=
c.1416A= (p.Glu472=)
c.*888T= (n.*888T=)
c.1557A= (p.Glu519=)
c.1584A= (p.Glu528=)
c.1623A= (p.Glu541=)
n.1565A=
c.1749A= (p.Glu583=)
c.878A=
c.850A=
c.1407A= (p.Glu469=)
c.768A= (p.Glu256=)
c.1518A= (p.Glu506=)
c.108A= (p.Glu36=)
c.895A=
c.1581A= (p.Glu527=)
n.879A=
c.1833A= (p.Glu611=)
c.1827A= (p.Glu609=)
c.1815A= (p.Glu605=)
c.1770A= (p.Glu590=)
c.1767A= (p.Glu589=)
c.1704A= (p.Glu568=)
c.1566A= (p.Glu522=)
c.1461A= (p.Glu487=)
c.1791A= (p.Glu597=)
c.1788A= (p.Glu596=)
c.1725A= (p.Glu575=)
c.1680A= (p.Glu560=)
c.1476A= (p.Glu492=)
c.1776A= (p.Glu592=)
c.1527A= (p.Glu509=)
n.3873T=
n.817A=
5g.96762312A>CCA360484939CAST,ERAP1c.792A>C (p.Glu264Asp)
c.1722A>C (p.Glu574Asp)
c.1500A>C (p.Glu500Asp)
c.1329A>C (p.Glu443Asp)
c.1614A>C (p.Glu538Asp)
c.1806A>C (p.Glu602Asp)
c.1872A>C (p.Glu624Asp)
c.253A>C
c.1774A>C
c.*1496A>C (n.*1496A>C)
c.589A>C
c.1485A>C (p.Glu495Asp)
c.1542A>C (p.Glu514Asp)
c.1761A>C (p.Glu587Asp)
n.416A>C
c.1416A>C (p.Glu472Asp)
c.*888T>G (n.*888T>G)
c.1557A>C (p.Glu519Asp)
c.1584A>C (p.Glu528Asp)
c.1623A>C (p.Glu541Asp)
n.1565A>C
c.1749A>C (p.Glu583Asp)
c.878A>C
c.850A>C
c.1407A>C (p.Glu469Asp)
c.768A>C (p.Glu256Asp)
c.1518A>C (p.Glu506Asp)
c.108A>C (p.Glu36Asp)
c.895A>C
c.1581A>C (p.Glu527Asp)
n.879A>C
c.1833A>C (p.Glu611Asp)
c.1827A>C (p.Glu609Asp)
c.1815A>C (p.Glu605Asp)
c.1770A>C (p.Glu590Asp)
c.1767A>C (p.Glu589Asp)
c.1704A>C (p.Glu568Asp)
c.1566A>C (p.Glu522Asp)
c.1461A>C (p.Glu487Asp)
c.1791A>C (p.Glu597Asp)
c.1788A>C (p.Glu596Asp)
c.1725A>C (p.Glu575Asp)
c.1680A>C (p.Glu560Asp)
c.1476A>C (p.Glu492Asp)
c.1776A>C (p.Glu592Asp)
c.1527A>C (p.Glu509Asp)
n.3873T>G
n.817A>C
 dbSNP gnomAD v2
5g.96762312A>GCA445511045CAST,ERAP1c.792A>G (p.Glu264=)
c.1722A>G (p.Glu574=)
c.1500A>G (p.Glu500=)
c.1329A>G (p.Glu443=)
c.1614A>G (p.Glu538=)
c.1806A>G (p.Glu602=)
c.1872A>G (p.Glu624=)
c.253A>G
c.1774A>G
c.*1496A>G (n.*1496A>G)
c.589A>G
c.1485A>G (p.Glu495=)
c.1542A>G (p.Glu514=)
c.1761A>G (p.Glu587=)
n.416A>G
c.1416A>G (p.Glu472=)
c.*888T>C (n.*888T>C)
c.1557A>G (p.Glu519=)
c.1584A>G (p.Glu528=)
c.1623A>G (p.Glu541=)
n.1565A>G
c.1749A>G (p.Glu583=)
c.878A>G
c.850A>G
c.1407A>G (p.Glu469=)
c.768A>G (p.Glu256=)
c.1518A>G (p.Glu506=)
c.108A>G (p.Glu36=)
c.895A>G
c.1581A>G (p.Glu527=)
n.879A>G
c.1833A>G (p.Glu611=)
c.1827A>G (p.Glu609=)
c.1815A>G (p.Glu605=)
c.1770A>G (p.Glu590=)
c.1767A>G (p.Glu589=)
c.1704A>G (p.Glu568=)
c.1566A>G (p.Glu522=)
c.1461A>G (p.Glu487=)
c.1791A>G (p.Glu597=)
c.1788A>G (p.Glu596=)
c.1725A>G (p.Glu575=)
c.1680A>G (p.Glu560=)
c.1476A>G (p.Glu492=)
c.1776A>G (p.Glu592=)
c.1527A>G (p.Glu509=)
n.3873T>C
n.817A>G
5g.96762312A>TCA360484940CAST,ERAP1c.792A>T (p.Glu264Asp)
c.1722A>T (p.Glu574Asp)
c.1500A>T (p.Glu500Asp)
c.1329A>T (p.Glu443Asp)
c.1614A>T (p.Glu538Asp)
c.1806A>T (p.Glu602Asp)
c.1872A>T (p.Glu624Asp)
c.253A>T
c.1774A>T
c.*1496A>T (n.*1496A>T)
c.589A>T
c.1485A>T (p.Glu495Asp)
c.1542A>T (p.Glu514Asp)
c.1761A>T (p.Glu587Asp)
n.416A>T
c.1416A>T (p.Glu472Asp)
c.*888T>A (n.*888T>A)
c.1557A>T (p.Glu519Asp)
c.1584A>T (p.Glu528Asp)
c.1623A>T (p.Glu541Asp)
n.1565A>T
c.1749A>T (p.Glu583Asp)
c.878A>T
c.850A>T
c.1407A>T (p.Glu469Asp)
c.768A>T (p.Glu256Asp)
c.1518A>T (p.Glu506Asp)
c.108A>T (p.Glu36Asp)
c.895A>T
c.1581A>T (p.Glu527Asp)
n.879A>T
c.1833A>T (p.Glu611Asp)
c.1827A>T (p.Glu609Asp)
c.1815A>T (p.Glu605Asp)
c.1770A>T (p.Glu590Asp)
c.1767A>T (p.Glu589Asp)
c.1704A>T (p.Glu568Asp)
c.1566A>T (p.Glu522Asp)
c.1461A>T (p.Glu487Asp)
c.1791A>T (p.Glu597Asp)
c.1788A>T (p.Glu596Asp)
c.1725A>T (p.Glu575Asp)
c.1680A>T (p.Glu560Asp)
c.1476A>T (p.Glu492Asp)
c.1776A>T (p.Glu592Asp)
c.1527A>T (p.Glu509Asp)
n.3873T>A
n.817A>T
5g.96762312_96762313delinsAGCA1565569283CAST,ERAP1c.792_793delinsAG (p.Glu264=)
c.1722_1723delinsAG (p.Glu574=)
c.1500_1501delinsAG (p.Glu500=)
c.1329_1330delinsAG (p.Glu443=)
c.1614_1615delinsAG (p.Glu538=)
c.1806_1807delinsAG (p.Glu602=)
c.1872_1873delinsAG (p.Glu624=)
c.253_254delinsAG
c.1774_1775delinsAG
c.*1496_*1497delinsAG (n.*1496_*1497delinsAG)
c.589_590delinsAG
c.1485_1486delinsAG (p.Glu495=)
c.1542_1543delinsAG (p.Glu514=)
c.1761_1762delinsAG (p.Glu587=)
n.416_417delinsAG
c.1416_1417delinsAG (p.Glu472=)
c.*887_*888delinsCT (n.*887_*888delinsCT)
c.1557_1558delinsAG (p.Glu519=)
c.1584_1585delinsAG (p.Glu528=)
c.1623_1624delinsAG (p.Glu541=)
n.1565_1566delinsAG
c.1749_1750delinsAG (p.Glu583=)
c.878_879delinsAG
c.850_851delinsAG
c.1407_1408delinsAG (p.Glu469=)
c.768_769delinsAG (p.Glu256=)
c.1518_1519delinsAG (p.Glu506=)
c.108_109delinsAG (p.Glu36=)
c.895_896delinsAG
c.1581_1582delinsAG (p.Glu527=)
n.879_880delinsAG
c.1833_1834delinsAG (p.Glu611=)
c.1827_1828delinsAG (p.Glu609=)
c.1815_1816delinsAG (p.Glu605=)
c.1770_1771delinsAG (p.Glu590=)
c.1767_1768delinsAG (p.Glu589=)
c.1704_1705delinsAG (p.Glu568=)
c.1566_1567delinsAG (p.Glu522=)
c.1461_1462delinsAG (p.Glu487=)
c.1791_1792delinsAG (p.Glu597=)
c.1788_1789delinsAG (p.Glu596=)
c.1725_1726delinsAG (p.Glu575=)
c.1680_1681delinsAG (p.Glu560=)
c.1476_1477delinsAG (p.Glu492=)
c.1776_1777delinsAG (p.Glu592=)
c.1527_1528delinsAG (p.Glu509=)
n.3872_3873delinsCT
n.817_818delinsAG
5g.96762313delCA199231CAST,ERAP1c.793del (p.Val265TrpfsTer?)
c.1723del (p.Val575TrpfsTer?)
c.1501del (p.Val501TrpfsTer?)
c.1330del (p.Val444TrpfsTer?)
c.1615del (p.Val539TrpfsTer?)
c.1807del (p.Val603TrpfsTer?)
c.1873del (p.Val625TrpfsTer?)
c.254del
c.1775del
c.*1497del (n.*1497del)
c.590del
c.1486del (p.Val496TrpfsTer?)
c.1543del (p.Val515TrpfsTer?)
c.1762del (p.Val588TrpfsTer?)
n.417del
c.1417del (p.Val473TrpfsTer?)
c.*887del (n.*887del)
c.1558del (p.Val520TrpfsTer?)
c.1585del (p.Val529TrpfsTer?)
c.1624del (p.Val542TrpfsTer?)
n.1566del
c.1750del (p.Val584TrpfsTer?)
c.879del
c.851del
c.1408del (p.Val470TrpfsTer?)
c.769del (p.Val257TrpfsTer?)
c.1519del (p.Val507TrpfsTer?)
c.109del (p.Val37TrpfsTer?)
c.896del
c.1582del (p.Val528TrpfsTer?)
n.880del
c.1834del (p.Val612TrpfsTer?)
c.1828del (p.Val610TrpfsTer?)
c.1816del (p.Val606TrpfsTer?)
c.1771del (p.Val591TrpfsTer?)
c.1768del (p.Val590TrpfsTer?)
c.1705del (p.Val569TrpfsTer?)
c.1567del (p.Val523TrpfsTer?)
c.1462del (p.Val488TrpfsTer?)
c.1792del (p.Val598TrpfsTer?)
c.1789del (p.Val597TrpfsTer?)
c.1726del (p.Val576TrpfsTer?)
c.1681del (p.Val561TrpfsTer?)
c.1477del (p.Val493TrpfsTer?)
c.1777del (p.Val593TrpfsTer?)
c.1528del (p.Val510TrpfsTer?)
n.3872del
n.818del
 ClinVar dbSNP
5g.96762313G>ACA360484941CAST,ERAP1c.793G>A (p.Val265Met)
c.1723G>A (p.Val575Met)
c.1501G>A (p.Val501Met)
c.1330G>A (p.Val444Met)
c.1615G>A (p.Val539Met)
c.1807G>A (p.Val603Met)
c.1873G>A (p.Val625Met)
c.254G>A
c.1775G>A
c.*1497G>A (n.*1497G>A)
c.590G>A
c.1486G>A (p.Val496Met)
c.1543G>A (p.Val515Met)
c.1762G>A (p.Val588Met)
n.417G>A
c.1417G>A (p.Val473Met)
c.*887C>T (n.*887C>T)
c.1558G>A (p.Val520Met)
c.1585G>A (p.Val529Met)
c.1624G>A (p.Val542Met)
n.1566G>A
c.1750G>A (p.Val584Met)
c.879G>A
c.851G>A
c.1408G>A (p.Val470Met)
c.769G>A (p.Val257Met)
c.1519G>A (p.Val507Met)
c.109G>A (p.Val37Met)
c.896G>A
c.1582G>A (p.Val528Met)
n.880G>A
c.1834G>A (p.Val612Met)
c.1828G>A (p.Val610Met)
c.1816G>A (p.Val606Met)
c.1771G>A (p.Val591Met)
c.1768G>A (p.Val590Met)
c.1705G>A (p.Val569Met)
c.1567G>A (p.Val523Met)
c.1462G>A (p.Val488Met)
c.1792G>A (p.Val598Met)
c.1789G>A (p.Val597Met)
c.1726G>A (p.Val576Met)
c.1681G>A (p.Val561Met)
c.1477G>A (p.Val493Met)
c.1777G>A (p.Val593Met)
c.1528G>A (p.Val510Met)
n.3872C>T
n.818G>A
5g.96762313G>CCA360484942CAST,ERAP1c.793G>C (p.Val265Leu)
c.1723G>C (p.Val575Leu)
c.1501G>C (p.Val501Leu)
c.1330G>C (p.Val444Leu)
c.1615G>C (p.Val539Leu)
c.1807G>C (p.Val603Leu)
c.1873G>C (p.Val625Leu)
c.254G>C
c.1775G>C
c.*1497G>C (n.*1497G>C)
c.590G>C
c.1486G>C (p.Val496Leu)
c.1543G>C (p.Val515Leu)
c.1762G>C (p.Val588Leu)
n.417G>C
c.1417G>C (p.Val473Leu)
c.*887C>G (n.*887C>G)
c.1558G>C (p.Val520Leu)
c.1585G>C (p.Val529Leu)
c.1624G>C (p.Val542Leu)
n.1566G>C
c.1750G>C (p.Val584Leu)
c.879G>C
c.851G>C
c.1408G>C (p.Val470Leu)
c.769G>C (p.Val257Leu)
c.1519G>C (p.Val507Leu)
c.109G>C (p.Val37Leu)
c.896G>C
c.1582G>C (p.Val528Leu)
n.880G>C
c.1834G>C (p.Val612Leu)
c.1828G>C (p.Val610Leu)
c.1816G>C (p.Val606Leu)
c.1771G>C (p.Val591Leu)
c.1768G>C (p.Val590Leu)
c.1705G>C (p.Val569Leu)
c.1567G>C (p.Val523Leu)
c.1462G>C (p.Val488Leu)
c.1792G>C (p.Val598Leu)
c.1789G>C (p.Val597Leu)
c.1726G>C (p.Val576Leu)
c.1681G>C (p.Val561Leu)
c.1477G>C (p.Val493Leu)
c.1777G>C (p.Val593Leu)
c.1528G>C (p.Val510Leu)
n.3872C>G
n.818G>C
5g.96762313G>TCA360484943CAST,ERAP1c.793G>T (p.Val265Leu)
c.1723G>T (p.Val575Leu)
c.1501G>T (p.Val501Leu)
c.1330G>T (p.Val444Leu)
c.1615G>T (p.Val539Leu)
c.1807G>T (p.Val603Leu)
c.1873G>T (p.Val625Leu)
c.254G>T
c.1775G>T
c.*1497G>T (n.*1497G>T)
c.590G>T
c.1486G>T (p.Val496Leu)
c.1543G>T (p.Val515Leu)
c.1762G>T (p.Val588Leu)
n.417G>T
c.1417G>T (p.Val473Leu)
c.*887C>A (n.*887C>A)
c.1558G>T (p.Val520Leu)
c.1585G>T (p.Val529Leu)
c.1624G>T (p.Val542Leu)
n.1566G>T
c.1750G>T (p.Val584Leu)
c.879G>T
c.851G>T
c.1408G>T (p.Val470Leu)
c.769G>T (p.Val257Leu)
c.1519G>T (p.Val507Leu)
c.109G>T (p.Val37Leu)
c.896G>T
c.1582G>T (p.Val528Leu)
n.880G>T
c.1834G>T (p.Val612Leu)
c.1828G>T (p.Val610Leu)
c.1816G>T (p.Val606Leu)
c.1771G>T (p.Val591Leu)
c.1768G>T (p.Val590Leu)
c.1705G>T (p.Val569Leu)
c.1567G>T (p.Val523Leu)
c.1462G>T (p.Val488Leu)
c.1792G>T (p.Val598Leu)
c.1789G>T (p.Val597Leu)
c.1726G>T (p.Val576Leu)
c.1681G>T (p.Val561Leu)
c.1477G>T (p.Val493Leu)
c.1777G>T (p.Val593Leu)
c.1528G>T (p.Val510Leu)
n.3872C>A
n.818G>T
5g.96762314T>ACA360484944CAST,ERAP1c.794T>A (p.Val265Glu)
c.1724T>A (p.Val575Glu)
c.1502T>A (p.Val501Glu)
c.1331T>A (p.Val444Glu)
c.1616T>A (p.Val539Glu)
c.1808T>A (p.Val603Glu)
c.1874T>A (p.Val625Glu)
c.255T>A
c.1776T>A
c.*1498T>A (n.*1498T>A)
c.591T>A
c.1487T>A (p.Val496Glu)
c.1544T>A (p.Val515Glu)
c.1763T>A (p.Val588Glu)
n.418T>A
c.1418T>A (p.Val473Glu)
c.*886A>T (n.*886A>T)
c.1559T>A (p.Val520Glu)
c.1586T>A (p.Val529Glu)
c.1625T>A (p.Val542Glu)
n.1567T>A
c.1751T>A (p.Val584Glu)
c.880T>A
c.852T>A
c.1409T>A (p.Val470Glu)
c.770T>A (p.Val257Glu)
c.1520T>A (p.Val507Glu)
c.110T>A (p.Val37Glu)
c.897T>A
c.1583T>A (p.Val528Glu)
n.881T>A
c.1835T>A (p.Val612Glu)
c.1829T>A (p.Val610Glu)
c.1817T>A (p.Val606Glu)
c.1772T>A (p.Val591Glu)
c.1769T>A (p.Val590Glu)
c.1706T>A (p.Val569Glu)
c.1568T>A (p.Val523Glu)
c.1463T>A (p.Val488Glu)
c.1793T>A (p.Val598Glu)
c.1790T>A (p.Val597Glu)
c.1727T>A (p.Val576Glu)
c.1682T>A (p.Val561Glu)
c.1478T>A (p.Val493Glu)
c.1778T>A (p.Val593Glu)
c.1529T>A (p.Val510Glu)
n.3871A>T
n.819T>A
5g.96762314T>CCA360484945CAST,ERAP1c.794T>C (p.Val265Ala)
c.1724T>C (p.Val575Ala)
c.1502T>C (p.Val501Ala)
c.1331T>C (p.Val444Ala)
c.1616T>C (p.Val539Ala)
c.1808T>C (p.Val603Ala)
c.1874T>C (p.Val625Ala)
c.255T>C
c.1776T>C
c.*1498T>C (n.*1498T>C)
c.591T>C
c.1487T>C (p.Val496Ala)
c.1544T>C (p.Val515Ala)
c.1763T>C (p.Val588Ala)
n.418T>C
c.1418T>C (p.Val473Ala)
c.*886A>G (n.*886A>G)
c.1559T>C (p.Val520Ala)
c.1586T>C (p.Val529Ala)
c.1625T>C (p.Val542Ala)
n.1567T>C
c.1751T>C (p.Val584Ala)
c.880T>C
c.852T>C
c.1409T>C (p.Val470Ala)
c.770T>C (p.Val257Ala)
c.1520T>C (p.Val507Ala)
c.110T>C (p.Val37Ala)
c.897T>C
c.1583T>C (p.Val528Ala)
n.881T>C
c.1835T>C (p.Val612Ala)
c.1829T>C (p.Val610Ala)
c.1817T>C (p.Val606Ala)
c.1772T>C (p.Val591Ala)
c.1769T>C (p.Val590Ala)
c.1706T>C (p.Val569Ala)
c.1568T>C (p.Val523Ala)
c.1463T>C (p.Val488Ala)
c.1793T>C (p.Val598Ala)
c.1790T>C (p.Val597Ala)
c.1727T>C (p.Val576Ala)
c.1682T>C (p.Val561Ala)
c.1478T>C (p.Val493Ala)
c.1778T>C (p.Val593Ala)
c.1529T>C (p.Val510Ala)
n.3871A>G
n.819T>C
5g.96762314T>GCA360484946CAST,ERAP1c.794T>G (p.Val265Gly)
c.1724T>G (p.Val575Gly)
c.1502T>G (p.Val501Gly)
c.1331T>G (p.Val444Gly)
c.1616T>G (p.Val539Gly)
c.1808T>G (p.Val603Gly)
c.1874T>G (p.Val625Gly)
c.255T>G
c.1776T>G
c.*1498T>G (n.*1498T>G)
c.591T>G
c.1487T>G (p.Val496Gly)
c.1544T>G (p.Val515Gly)
c.1763T>G (p.Val588Gly)
n.418T>G
c.1418T>G (p.Val473Gly)
c.*886A>C (n.*886A>C)
c.1559T>G (p.Val520Gly)
c.1586T>G (p.Val529Gly)
c.1625T>G (p.Val542Gly)
n.1567T>G
c.1751T>G (p.Val584Gly)
c.880T>G
c.852T>G
c.1409T>G (p.Val470Gly)
c.770T>G (p.Val257Gly)
c.1520T>G (p.Val507Gly)
c.110T>G (p.Val37Gly)
c.897T>G
c.1583T>G (p.Val528Gly)
n.881T>G
c.1835T>G (p.Val612Gly)
c.1829T>G (p.Val610Gly)
c.1817T>G (p.Val606Gly)
c.1772T>G (p.Val591Gly)
c.1769T>G (p.Val590Gly)
c.1706T>G (p.Val569Gly)
c.1568T>G (p.Val523Gly)
c.1463T>G (p.Val488Gly)
c.1793T>G (p.Val598Gly)
c.1790T>G (p.Val597Gly)
c.1727T>G (p.Val576Gly)
c.1682T>G (p.Val561Gly)
c.1478T>G (p.Val493Gly)
c.1778T>G (p.Val593Gly)
c.1529T>G (p.Val510Gly)
n.3871A>C
n.819T>G
5g.96762315G>ACA3351508CAST,ERAP1c.795G>A (p.Val265=)
c.1725G>A (p.Val575=)
c.1503G>A (p.Val501=)
c.1332G>A (p.Val444=)
c.1617G>A (p.Val539=)
c.1809G>A (p.Val603=)
c.1875G>A (p.Val625=)
c.256G>A
c.1777G>A
c.*1499G>A (n.*1499G>A)
c.592G>A
c.1488G>A (p.Val496=)
c.1545G>A (p.Val515=)
c.1764G>A (p.Val588=)
n.419G>A
c.1419G>A (p.Val473=)
c.*885C>T (n.*885C>T)
c.1560G>A (p.Val520=)
c.1587G>A (p.Val529=)
c.1626G>A (p.Val542=)
n.1568G>A
c.1752G>A (p.Val584=)
c.881G>A
c.853G>A
c.1410G>A (p.Val470=)
c.771G>A (p.Val257=)
c.1521G>A (p.Val507=)
c.111G>A (p.Val37=)
c.898G>A
c.1584G>A (p.Val528=)
n.882G>A
c.1836G>A (p.Val612=)
c.1830G>A (p.Val610=)
c.1818G>A (p.Val606=)
c.1773G>A (p.Val591=)
c.1770G>A (p.Val590=)
c.1707G>A (p.Val569=)
c.1569G>A (p.Val523=)
c.1464G>A (p.Val488=)
c.1794G>A (p.Val598=)
c.1791G>A (p.Val597=)
c.1728G>A (p.Val576=)
c.1683G>A (p.Val561=)
c.1479G>A (p.Val493=)
c.1779G>A (p.Val593=)
c.1530G>A (p.Val510=)
n.3870C>T
n.820G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762315G>CCA445511047CAST,ERAP1c.795G>C (p.Val265=)
c.1725G>C (p.Val575=)
c.1503G>C (p.Val501=)
c.1332G>C (p.Val444=)
c.1617G>C (p.Val539=)
c.1809G>C (p.Val603=)
c.1875G>C (p.Val625=)
c.256G>C
c.1777G>C
c.*1499G>C (n.*1499G>C)
c.592G>C
c.1488G>C (p.Val496=)
c.1545G>C (p.Val515=)
c.1764G>C (p.Val588=)
n.419G>C
c.1419G>C (p.Val473=)
c.*885C>G (n.*885C>G)
c.1560G>C (p.Val520=)
c.1587G>C (p.Val529=)
c.1626G>C (p.Val542=)
n.1568G>C
c.1752G>C (p.Val584=)
c.881G>C
c.853G>C
c.1410G>C (p.Val470=)
c.771G>C (p.Val257=)
c.1521G>C (p.Val507=)
c.111G>C (p.Val37=)
c.898G>C
c.1584G>C (p.Val528=)
n.882G>C
c.1836G>C (p.Val612=)
c.1830G>C (p.Val610=)
c.1818G>C (p.Val606=)
c.1773G>C (p.Val591=)
c.1770G>C (p.Val590=)
c.1707G>C (p.Val569=)
c.1569G>C (p.Val523=)
c.1464G>C (p.Val488=)
c.1794G>C (p.Val598=)
c.1791G>C (p.Val597=)
c.1728G>C (p.Val576=)
c.1683G>C (p.Val561=)
c.1479G>C (p.Val493=)
c.1779G>C (p.Val593=)
c.1530G>C (p.Val510=)
n.3870C>G
n.820G>C
5g.96762315G=CA1565569284CAST,ERAP1c.795G= (p.Val265=)
c.1725G= (p.Val575=)
c.1503G= (p.Val501=)
c.1332G= (p.Val444=)
c.1617G= (p.Val539=)
c.1809G= (p.Val603=)
c.1875G= (p.Val625=)
c.256G=
c.1777G=
c.*1499G= (n.*1499G=)
c.592G=
c.1488G= (p.Val496=)
c.1545G= (p.Val515=)
c.1764G= (p.Val588=)
n.419G=
c.1419G= (p.Val473=)
c.*885C= (n.*885C=)
c.1560G= (p.Val520=)
c.1587G= (p.Val529=)
c.1626G= (p.Val542=)
n.1568G=
c.1752G= (p.Val584=)
c.881G=
c.853G=
c.1410G= (p.Val470=)
c.771G= (p.Val257=)
c.1521G= (p.Val507=)
c.111G= (p.Val37=)
c.898G=
c.1584G= (p.Val528=)
n.882G=
c.1836G= (p.Val612=)
c.1830G= (p.Val610=)
c.1818G= (p.Val606=)
c.1773G= (p.Val591=)
c.1770G= (p.Val590=)
c.1707G= (p.Val569=)
c.1569G= (p.Val523=)
c.1464G= (p.Val488=)
c.1794G= (p.Val598=)
c.1791G= (p.Val597=)
c.1728G= (p.Val576=)
c.1683G= (p.Val561=)
c.1479G= (p.Val493=)
c.1779G= (p.Val593=)
c.1530G= (p.Val510=)
n.3870C=
n.820G=
5g.96762315G>TCA445511048CAST,ERAP1c.795G>T (p.Val265=)
c.1725G>T (p.Val575=)
c.1503G>T (p.Val501=)
c.1332G>T (p.Val444=)
c.1617G>T (p.Val539=)
c.1809G>T (p.Val603=)
c.1875G>T (p.Val625=)
c.256G>T
c.1777G>T
c.*1499G>T (n.*1499G>T)
c.592G>T
c.1488G>T (p.Val496=)
c.1545G>T (p.Val515=)
c.1764G>T (p.Val588=)
n.419G>T
c.1419G>T (p.Val473=)
c.*885C>A (n.*885C>A)
c.1560G>T (p.Val520=)
c.1587G>T (p.Val529=)
c.1626G>T (p.Val542=)
n.1568G>T
c.1752G>T (p.Val584=)
c.881G>T
c.853G>T
c.1410G>T (p.Val470=)
c.771G>T (p.Val257=)
c.1521G>T (p.Val507=)
c.111G>T (p.Val37=)
c.898G>T
c.1584G>T (p.Val528=)
n.882G>T
c.1836G>T (p.Val612=)
c.1830G>T (p.Val610=)
c.1818G>T (p.Val606=)
c.1773G>T (p.Val591=)
c.1770G>T (p.Val590=)
c.1707G>T (p.Val569=)
c.1569G>T (p.Val523=)
c.1464G>T (p.Val488=)
c.1794G>T (p.Val598=)
c.1791G>T (p.Val597=)
c.1728G>T (p.Val576=)
c.1683G>T (p.Val561=)
c.1479G>T (p.Val493=)
c.1779G>T (p.Val593=)
c.1530G>T (p.Val510=)
n.3870C>A
n.820G>T
 dbSNP gnomAD v2 gnomAD v4
5g.96762316G>ACA3351509CAST,ERAP1c.796G>A (p.Val266Ile)
c.1726G>A (p.Val576Ile)
c.1504G>A (p.Val502Ile)
c.1333G>A (p.Val445Ile)
c.1618G>A (p.Val540Ile)
c.1810G>A (p.Val604Ile)
c.1876G>A (p.Val626Ile)
c.257G>A
c.1778G>A
c.*1500G>A (n.*1500G>A)
c.593G>A
c.1489G>A (p.Val497Ile)
c.1546G>A (p.Val516Ile)
c.1765G>A (p.Val589Ile)
n.420G>A
c.1420G>A (p.Val474Ile)
c.*884C>T (n.*884C>T)
c.1561G>A (p.Val521Ile)
c.1588G>A (p.Val530Ile)
c.1627G>A (p.Val543Ile)
n.1569G>A
c.1753G>A (p.Val585Ile)
c.882G>A
c.854G>A
c.1411G>A (p.Val471Ile)
c.772G>A (p.Val258Ile)
c.1522G>A (p.Val508Ile)
c.112G>A (p.Val38Ile)
c.899G>A
c.1585G>A (p.Val529Ile)
n.883G>A
c.1837G>A (p.Val613Ile)
c.1831G>A (p.Val611Ile)
c.1819G>A (p.Val607Ile)
c.1774G>A (p.Val592Ile)
c.1771G>A (p.Val591Ile)
c.1708G>A (p.Val570Ile)
c.1570G>A (p.Val524Ile)
c.1465G>A (p.Val489Ile)
c.1795G>A (p.Val599Ile)
c.1792G>A (p.Val598Ile)
c.1729G>A (p.Val577Ile)
c.1684G>A (p.Val562Ile)
c.1480G>A (p.Val494Ile)
c.1780G>A (p.Val594Ile)
c.1531G>A (p.Val511Ile)
n.3869C>T
n.821G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762316G>CCA360484948CAST,ERAP1c.796G>C (p.Val266Leu)
c.1726G>C (p.Val576Leu)
c.1504G>C (p.Val502Leu)
c.1333G>C (p.Val445Leu)
c.1618G>C (p.Val540Leu)
c.1810G>C (p.Val604Leu)
c.1876G>C (p.Val626Leu)
c.257G>C
c.1778G>C
c.*1500G>C (n.*1500G>C)
c.593G>C
c.1489G>C (p.Val497Leu)
c.1546G>C (p.Val516Leu)
c.1765G>C (p.Val589Leu)
n.420G>C
c.1420G>C (p.Val474Leu)
c.*884C>G (n.*884C>G)
c.1561G>C (p.Val521Leu)
c.1588G>C (p.Val530Leu)
c.1627G>C (p.Val543Leu)
n.1569G>C
c.1753G>C (p.Val585Leu)
c.882G>C
c.854G>C
c.1411G>C (p.Val471Leu)
c.772G>C (p.Val258Leu)
c.1522G>C (p.Val508Leu)
c.112G>C (p.Val38Leu)
c.899G>C
c.1585G>C (p.Val529Leu)
n.883G>C
c.1837G>C (p.Val613Leu)
c.1831G>C (p.Val611Leu)
c.1819G>C (p.Val607Leu)
c.1774G>C (p.Val592Leu)
c.1771G>C (p.Val591Leu)
c.1708G>C (p.Val570Leu)
c.1570G>C (p.Val524Leu)
c.1465G>C (p.Val489Leu)
c.1795G>C (p.Val599Leu)
c.1792G>C (p.Val598Leu)
c.1729G>C (p.Val577Leu)
c.1684G>C (p.Val562Leu)
c.1480G>C (p.Val494Leu)
c.1780G>C (p.Val594Leu)
c.1531G>C (p.Val511Leu)
n.3869C>G
n.821G>C
 gnomAD v4
5g.96762316G=CA1565569285CAST,ERAP1c.796G= (p.Val266=)
c.1726G= (p.Val576=)
c.1504G= (p.Val502=)
c.1333G= (p.Val445=)
c.1618G= (p.Val540=)
c.1810G= (p.Val604=)
c.1876G= (p.Val626=)
c.257G=
c.1778G=
c.*1500G= (n.*1500G=)
c.593G=
c.1489G= (p.Val497=)
c.1546G= (p.Val516=)
c.1765G= (p.Val589=)
n.420G=
c.1420G= (p.Val474=)
c.*884C= (n.*884C=)
c.1561G= (p.Val521=)
c.1588G= (p.Val530=)
c.1627G= (p.Val543=)
n.1569G=
c.1753G= (p.Val585=)
c.882G=
c.854G=
c.1411G= (p.Val471=)
c.772G= (p.Val258=)
c.1522G= (p.Val508=)
c.112G= (p.Val38=)
c.899G=
c.1585G= (p.Val529=)
n.883G=
c.1837G= (p.Val613=)
c.1831G= (p.Val611=)
c.1819G= (p.Val607=)
c.1774G= (p.Val592=)
c.1771G= (p.Val591=)
c.1708G= (p.Val570=)
c.1570G= (p.Val524=)
c.1465G= (p.Val489=)
c.1795G= (p.Val599=)
c.1792G= (p.Val598=)
c.1729G= (p.Val577=)
c.1684G= (p.Val562=)
c.1480G= (p.Val494=)
c.1780G= (p.Val594=)
c.1531G= (p.Val511=)
n.3869C=
n.821G=
5g.96762316G>TCA360484947CAST,ERAP1c.796G>T (p.Val266Phe)
c.1726G>T (p.Val576Phe)
c.1504G>T (p.Val502Phe)
c.1333G>T (p.Val445Phe)
c.1618G>T (p.Val540Phe)
c.1810G>T (p.Val604Phe)
c.1876G>T (p.Val626Phe)
c.257G>T
c.1778G>T
c.*1500G>T (n.*1500G>T)
c.593G>T
c.1489G>T (p.Val497Phe)
c.1546G>T (p.Val516Phe)
c.1765G>T (p.Val589Phe)
n.420G>T
c.1420G>T (p.Val474Phe)
c.*884C>A (n.*884C>A)
c.1561G>T (p.Val521Phe)
c.1588G>T (p.Val530Phe)
c.1627G>T (p.Val543Phe)
n.1569G>T
c.1753G>T (p.Val585Phe)
c.882G>T
c.854G>T
c.1411G>T (p.Val471Phe)
c.772G>T (p.Val258Phe)
c.1522G>T (p.Val508Phe)
c.112G>T (p.Val38Phe)
c.899G>T
c.1585G>T (p.Val529Phe)
n.883G>T
c.1837G>T (p.Val613Phe)
c.1831G>T (p.Val611Phe)
c.1819G>T (p.Val607Phe)
c.1774G>T (p.Val592Phe)
c.1771G>T (p.Val591Phe)
c.1708G>T (p.Val570Phe)
c.1570G>T (p.Val524Phe)
c.1465G>T (p.Val489Phe)
c.1795G>T (p.Val599Phe)
c.1792G>T (p.Val598Phe)
c.1729G>T (p.Val577Phe)
c.1684G>T (p.Val562Phe)
c.1480G>T (p.Val494Phe)
c.1780G>T (p.Val594Phe)
c.1531G>T (p.Val511Phe)
n.3869C>A
n.821G>T
5g.96762317T>ACA360484949CAST,ERAP1c.797T>A (p.Val266Asp)
c.1727T>A (p.Val576Asp)
c.1505T>A (p.Val502Asp)
c.1334T>A (p.Val445Asp)
c.1619T>A (p.Val540Asp)
c.1811T>A (p.Val604Asp)
c.1877T>A (p.Val626Asp)
c.258T>A
c.1779T>A
c.*1501T>A (n.*1501T>A)
c.594T>A
c.1490T>A (p.Val497Asp)
c.1547T>A (p.Val516Asp)
c.1766T>A (p.Val589Asp)
n.421T>A
c.1421T>A (p.Val474Asp)
c.*883A>T (n.*883A>T)
c.1562T>A (p.Val521Asp)
c.1589T>A (p.Val530Asp)
c.1628T>A (p.Val543Asp)
n.1570T>A
c.1754T>A (p.Val585Asp)
c.883T>A
c.855T>A
c.1412T>A (p.Val471Asp)
c.773T>A (p.Val258Asp)
c.1523T>A (p.Val508Asp)
c.113T>A (p.Val38Asp)
c.900T>A
c.1586T>A (p.Val529Asp)
n.884T>A
c.1838T>A (p.Val613Asp)
c.1832T>A (p.Val611Asp)
c.1820T>A (p.Val607Asp)
c.1775T>A (p.Val592Asp)
c.1772T>A (p.Val591Asp)
c.1709T>A (p.Val570Asp)
c.1571T>A (p.Val524Asp)
c.1466T>A (p.Val489Asp)
c.1796T>A (p.Val599Asp)
c.1793T>A (p.Val598Asp)
c.1730T>A (p.Val577Asp)
c.1685T>A (p.Val562Asp)
c.1481T>A (p.Val494Asp)
c.1781T>A (p.Val594Asp)
c.1532T>A (p.Val511Asp)
n.3868A>T
n.822T>A
5g.96762317T>CCA360484950CAST,ERAP1c.797T>C (p.Val266Ala)
c.1727T>C (p.Val576Ala)
c.1505T>C (p.Val502Ala)
c.1334T>C (p.Val445Ala)
c.1619T>C (p.Val540Ala)
c.1811T>C (p.Val604Ala)
c.1877T>C (p.Val626Ala)
c.258T>C
c.1779T>C
c.*1501T>C (n.*1501T>C)
c.594T>C
c.1490T>C (p.Val497Ala)
c.1547T>C (p.Val516Ala)
c.1766T>C (p.Val589Ala)
n.421T>C
c.1421T>C (p.Val474Ala)
c.*883A>G (n.*883A>G)
c.1562T>C (p.Val521Ala)
c.1589T>C (p.Val530Ala)
c.1628T>C (p.Val543Ala)
n.1570T>C
c.1754T>C (p.Val585Ala)
c.883T>C
c.855T>C
c.1412T>C (p.Val471Ala)
c.773T>C (p.Val258Ala)
c.1523T>C (p.Val508Ala)
c.113T>C (p.Val38Ala)
c.900T>C
c.1586T>C (p.Val529Ala)
n.884T>C
c.1838T>C (p.Val613Ala)
c.1832T>C (p.Val611Ala)
c.1820T>C (p.Val607Ala)
c.1775T>C (p.Val592Ala)
c.1772T>C (p.Val591Ala)
c.1709T>C (p.Val570Ala)
c.1571T>C (p.Val524Ala)
c.1466T>C (p.Val489Ala)
c.1796T>C (p.Val599Ala)
c.1793T>C (p.Val598Ala)
c.1730T>C (p.Val577Ala)
c.1685T>C (p.Val562Ala)
c.1481T>C (p.Val494Ala)
c.1781T>C (p.Val594Ala)
c.1532T>C (p.Val511Ala)
n.3868A>G
n.822T>C
5g.96762317T>GCA360484951CAST,ERAP1c.797T>G (p.Val266Gly)
c.1727T>G (p.Val576Gly)
c.1505T>G (p.Val502Gly)
c.1334T>G (p.Val445Gly)
c.1619T>G (p.Val540Gly)
c.1811T>G (p.Val604Gly)
c.1877T>G (p.Val626Gly)
c.258T>G
c.1779T>G
c.*1501T>G (n.*1501T>G)
c.594T>G
c.1490T>G (p.Val497Gly)
c.1547T>G (p.Val516Gly)
c.1766T>G (p.Val589Gly)
n.421T>G
c.1421T>G (p.Val474Gly)
c.*883A>C (n.*883A>C)
c.1562T>G (p.Val521Gly)
c.1589T>G (p.Val530Gly)
c.1628T>G (p.Val543Gly)
n.1570T>G
c.1754T>G (p.Val585Gly)
c.883T>G
c.855T>G
c.1412T>G (p.Val471Gly)
c.773T>G (p.Val258Gly)
c.1523T>G (p.Val508Gly)
c.113T>G (p.Val38Gly)
c.900T>G
c.1586T>G (p.Val529Gly)
n.884T>G
c.1838T>G (p.Val613Gly)
c.1832T>G (p.Val611Gly)
c.1820T>G (p.Val607Gly)
c.1775T>G (p.Val592Gly)
c.1772T>G (p.Val591Gly)
c.1709T>G (p.Val570Gly)
c.1571T>G (p.Val524Gly)
c.1466T>G (p.Val489Gly)
c.1796T>G (p.Val599Gly)
c.1793T>G (p.Val598Gly)
c.1730T>G (p.Val577Gly)
c.1685T>G (p.Val562Gly)
c.1481T>G (p.Val494Gly)
c.1781T>G (p.Val594Gly)
c.1532T>G (p.Val511Gly)
n.3868A>C
n.822T>G
5g.96762318T>ACA445511054CAST,ERAP1c.798T>A (p.Val266=)
c.1728T>A (p.Val576=)
c.1506T>A (p.Val502=)
c.1335T>A (p.Val445=)
c.1620T>A (p.Val540=)
c.1812T>A (p.Val604=)
c.1878T>A (p.Val626=)
c.259T>A
c.1780T>A
c.*1502T>A (n.*1502T>A)
c.595T>A
c.1491T>A (p.Val497=)
c.1548T>A (p.Val516=)
c.1767T>A (p.Val589=)
n.422T>A
c.1422T>A (p.Val474=)
c.*882A>T (n.*882A>T)
c.1563T>A (p.Val521=)
c.1590T>A (p.Val530=)
c.1629T>A (p.Val543=)
n.1571T>A
c.1755T>A (p.Val585=)
c.884T>A
c.856T>A
c.1413T>A (p.Val471=)
c.774T>A (p.Val258=)
c.1524T>A (p.Val508=)
c.114T>A (p.Val38=)
c.901T>A
c.1587T>A (p.Val529=)
n.885T>A
c.1839T>A (p.Val613=)
c.1833T>A (p.Val611=)
c.1821T>A (p.Val607=)
c.1776T>A (p.Val592=)
c.1773T>A (p.Val591=)
c.1710T>A (p.Val570=)
c.1572T>A (p.Val524=)
c.1467T>A (p.Val489=)
c.1797T>A (p.Val599=)
c.1794T>A (p.Val598=)
c.1731T>A (p.Val577=)
c.1686T>A (p.Val562=)
c.1482T>A (p.Val494=)
c.1782T>A (p.Val594=)
c.1533T>A (p.Val511=)
n.3867A>T
n.823T>A
5g.96762318T>CCA445511053CAST,ERAP1c.798T>C (p.Val266=)
c.1728T>C (p.Val576=)
c.1506T>C (p.Val502=)
c.1335T>C (p.Val445=)
c.1620T>C (p.Val540=)
c.1812T>C (p.Val604=)
c.1878T>C (p.Val626=)
c.259T>C
c.1780T>C
c.*1502T>C (n.*1502T>C)
c.595T>C
c.1491T>C (p.Val497=)
c.1548T>C (p.Val516=)
c.1767T>C (p.Val589=)
n.422T>C
c.1422T>C (p.Val474=)
c.*882A>G (n.*882A>G)
c.1563T>C (p.Val521=)
c.1590T>C (p.Val530=)
c.1629T>C (p.Val543=)
n.1571T>C
c.1755T>C (p.Val585=)
c.884T>C
c.856T>C
c.1413T>C (p.Val471=)
c.774T>C (p.Val258=)
c.1524T>C (p.Val508=)
c.114T>C (p.Val38=)
c.901T>C
c.1587T>C (p.Val529=)
n.885T>C
c.1839T>C (p.Val613=)
c.1833T>C (p.Val611=)
c.1821T>C (p.Val607=)
c.1776T>C (p.Val592=)
c.1773T>C (p.Val591=)
c.1710T>C (p.Val570=)
c.1572T>C (p.Val524=)
c.1467T>C (p.Val489=)
c.1797T>C (p.Val599=)
c.1794T>C (p.Val598=)
c.1731T>C (p.Val577=)
c.1686T>C (p.Val562=)
c.1482T>C (p.Val494=)
c.1782T>C (p.Val594=)
c.1533T>C (p.Val511=)
n.3867A>G
n.823T>C
5g.96762318T>GCA445511051CAST,ERAP1c.798T>G (p.Val266=)
c.1728T>G (p.Val576=)
c.1506T>G (p.Val502=)
c.1335T>G (p.Val445=)
c.1620T>G (p.Val540=)
c.1812T>G (p.Val604=)
c.1878T>G (p.Val626=)
c.259T>G
c.1780T>G
c.*1502T>G (n.*1502T>G)
c.595T>G
c.1491T>G (p.Val497=)
c.1548T>G (p.Val516=)
c.1767T>G (p.Val589=)
n.422T>G
c.1422T>G (p.Val474=)
c.*882A>C (n.*882A>C)
c.1563T>G (p.Val521=)
c.1590T>G (p.Val530=)
c.1629T>G (p.Val543=)
n.1571T>G
c.1755T>G (p.Val585=)
c.884T>G
c.856T>G
c.1413T>G (p.Val471=)
c.774T>G (p.Val258=)
c.1524T>G (p.Val508=)
c.114T>G (p.Val38=)
c.901T>G
c.1587T>G (p.Val529=)
n.885T>G
c.1839T>G (p.Val613=)
c.1833T>G (p.Val611=)
c.1821T>G (p.Val607=)
c.1776T>G (p.Val592=)
c.1773T>G (p.Val591=)
c.1710T>G (p.Val570=)
c.1572T>G (p.Val524=)
c.1467T>G (p.Val489=)
c.1797T>G (p.Val599=)
c.1794T>G (p.Val598=)
c.1731T>G (p.Val577=)
c.1686T>G (p.Val562=)
c.1482T>G (p.Val494=)
c.1782T>G (p.Val594=)
c.1533T>G (p.Val511=)
n.3867A>C
n.823T>G
 dbSNP
5g.96762318T=CA1565569286CAST,ERAP1c.798T= (p.Val266=)
c.1728T= (p.Val576=)
c.1506T= (p.Val502=)
c.1335T= (p.Val445=)
c.1620T= (p.Val540=)
c.1812T= (p.Val604=)
c.1878T= (p.Val626=)
c.259T=
c.1780T=
c.*1502T= (n.*1502T=)
c.595T=
c.1491T= (p.Val497=)
c.1548T= (p.Val516=)
c.1767T= (p.Val589=)
n.422T=
c.1422T= (p.Val474=)
c.*882A= (n.*882A=)
c.1563T= (p.Val521=)
c.1590T= (p.Val530=)
c.1629T= (p.Val543=)
n.1571T=
c.1755T= (p.Val585=)
c.884T=
c.856T=
c.1413T= (p.Val471=)
c.774T= (p.Val258=)
c.1524T= (p.Val508=)
c.114T= (p.Val38=)
c.901T=
c.1587T= (p.Val529=)
n.885T=
c.1839T= (p.Val613=)
c.1833T= (p.Val611=)
c.1821T= (p.Val607=)
c.1776T= (p.Val592=)
c.1773T= (p.Val591=)
c.1710T= (p.Val570=)
c.1572T= (p.Val524=)
c.1467T= (p.Val489=)
c.1797T= (p.Val599=)
c.1794T= (p.Val598=)
c.1731T= (p.Val577=)
c.1686T= (p.Val562=)
c.1482T= (p.Val494=)
c.1782T= (p.Val594=)
c.1533T= (p.Val511=)
n.3867A=
n.823T=
5g.96762319T>ACA360484952CAST,ERAP1c.799T>A (p.Ser267Thr)
c.1729T>A (p.Ser577Thr)
c.1507T>A (p.Ser503Thr)
c.1336T>A (p.Ser446Thr)
c.1621T>A (p.Ser541Thr)
c.1813T>A (p.Ser605Thr)
c.1879T>A (p.Ser627Thr)
c.260T>A
c.1781T>A
c.*1503T>A (n.*1503T>A)
c.596T>A
c.1492T>A (p.Ser498Thr)
c.1549T>A (p.Ser517Thr)
c.1768T>A (p.Ser590Thr)
n.423T>A
c.1423T>A (p.Ser475Thr)
c.*881A>T (n.*881A>T)
c.1564T>A (p.Ser522Thr)
c.1591T>A (p.Ser531Thr)
c.1630T>A (p.Ser544Thr)
n.1572T>A
c.1756T>A (p.Ser586Thr)
c.885T>A
c.857T>A
c.1414T>A (p.Ser472Thr)
c.775T>A (p.Ser259Thr)
c.1525T>A (p.Ser509Thr)
c.115T>A (p.Ser39Thr)
c.902T>A
c.1588T>A (p.Ser530Thr)
n.886T>A
c.1840T>A (p.Ser614Thr)
c.1834T>A (p.Ser612Thr)
c.1822T>A (p.Ser608Thr)
c.1777T>A (p.Ser593Thr)
c.1774T>A (p.Ser592Thr)
c.1711T>A (p.Ser571Thr)
c.1573T>A (p.Ser525Thr)
c.1468T>A (p.Ser490Thr)
c.1798T>A (p.Ser600Thr)
c.1795T>A (p.Ser599Thr)
c.1732T>A (p.Ser578Thr)
c.1687T>A (p.Ser563Thr)
c.1483T>A (p.Ser495Thr)
c.1783T>A (p.Ser595Thr)
c.1534T>A (p.Ser512Thr)
n.3866A>T
n.824T>A
5g.96762319T>CCA360484953CAST,ERAP1c.799T>C (p.Ser267Pro)
c.1729T>C (p.Ser577Pro)
c.1507T>C (p.Ser503Pro)
c.1336T>C (p.Ser446Pro)
c.1621T>C (p.Ser541Pro)
c.1813T>C (p.Ser605Pro)
c.1879T>C (p.Ser627Pro)
c.260T>C
c.1781T>C
c.*1503T>C (n.*1503T>C)
c.596T>C
c.1492T>C (p.Ser498Pro)
c.1549T>C (p.Ser517Pro)
c.1768T>C (p.Ser590Pro)
n.423T>C
c.1423T>C (p.Ser475Pro)
c.*881A>G (n.*881A>G)
c.1564T>C (p.Ser522Pro)
c.1591T>C (p.Ser531Pro)
c.1630T>C (p.Ser544Pro)
n.1572T>C
c.1756T>C (p.Ser586Pro)
c.885T>C
c.857T>C
c.1414T>C (p.Ser472Pro)
c.775T>C (p.Ser259Pro)
c.1525T>C (p.Ser509Pro)
c.115T>C (p.Ser39Pro)
c.902T>C
c.1588T>C (p.Ser530Pro)
n.886T>C
c.1840T>C (p.Ser614Pro)
c.1834T>C (p.Ser612Pro)
c.1822T>C (p.Ser608Pro)
c.1777T>C (p.Ser593Pro)
c.1774T>C (p.Ser592Pro)
c.1711T>C (p.Ser571Pro)
c.1573T>C (p.Ser525Pro)
c.1468T>C (p.Ser490Pro)
c.1798T>C (p.Ser600Pro)
c.1795T>C (p.Ser599Pro)
c.1732T>C (p.Ser578Pro)
c.1687T>C (p.Ser563Pro)
c.1483T>C (p.Ser495Pro)
c.1783T>C (p.Ser595Pro)
c.1534T>C (p.Ser512Pro)
n.3866A>G
n.824T>C
5g.96762319T>GCA360484954CAST,ERAP1c.799T>G (p.Ser267Ala)
c.1729T>G (p.Ser577Ala)
c.1507T>G (p.Ser503Ala)
c.1336T>G (p.Ser446Ala)
c.1621T>G (p.Ser541Ala)
c.1813T>G (p.Ser605Ala)
c.1879T>G (p.Ser627Ala)
c.260T>G
c.1781T>G
c.*1503T>G (n.*1503T>G)
c.596T>G
c.1492T>G (p.Ser498Ala)
c.1549T>G (p.Ser517Ala)
c.1768T>G (p.Ser590Ala)
n.423T>G
c.1423T>G (p.Ser475Ala)
c.*881A>C (n.*881A>C)
c.1564T>G (p.Ser522Ala)
c.1591T>G (p.Ser531Ala)
c.1630T>G (p.Ser544Ala)
n.1572T>G
c.1756T>G (p.Ser586Ala)
c.885T>G
c.857T>G
c.1414T>G (p.Ser472Ala)
c.775T>G (p.Ser259Ala)
c.1525T>G (p.Ser509Ala)
c.115T>G (p.Ser39Ala)
c.902T>G
c.1588T>G (p.Ser530Ala)
n.886T>G
c.1840T>G (p.Ser614Ala)
c.1834T>G (p.Ser612Ala)
c.1822T>G (p.Ser608Ala)
c.1777T>G (p.Ser593Ala)
c.1774T>G (p.Ser592Ala)
c.1711T>G (p.Ser571Ala)
c.1573T>G (p.Ser525Ala)
c.1468T>G (p.Ser490Ala)
c.1798T>G (p.Ser600Ala)
c.1795T>G (p.Ser599Ala)
c.1732T>G (p.Ser578Ala)
c.1687T>G (p.Ser563Ala)
c.1483T>G (p.Ser495Ala)
c.1783T>G (p.Ser595Ala)
c.1534T>G (p.Ser512Ala)
n.3866A>C
n.824T>G
 gnomAD v4
5g.96762320C>ACA360484955CAST,ERAP1c.800C>A (p.Ser267Tyr)
c.1730C>A (p.Ser577Tyr)
c.1508C>A (p.Ser503Tyr)
c.1337C>A (p.Ser446Tyr)
c.1622C>A (p.Ser541Tyr)
c.1814C>A (p.Ser605Tyr)
c.1880C>A (p.Ser627Tyr)
c.261C>A
c.1782C>A
c.*1504C>A (n.*1504C>A)
c.597C>A
c.1493C>A (p.Ser498Tyr)
c.1550C>A (p.Ser517Tyr)
c.1769C>A (p.Ser590Tyr)
n.424C>A
c.1424C>A (p.Ser475Tyr)
c.*880G>T (n.*880G>T)
c.1565C>A (p.Ser522Tyr)
c.1592C>A (p.Ser531Tyr)
c.1631C>A (p.Ser544Tyr)
n.1573C>A
c.1757C>A (p.Ser586Tyr)
c.886C>A
c.858C>A
c.1415C>A (p.Ser472Tyr)
c.776C>A (p.Ser259Tyr)
c.1526C>A (p.Ser509Tyr)
c.116C>A (p.Ser39Tyr)
c.903C>A
c.1589C>A (p.Ser530Tyr)
n.887C>A
c.1841C>A (p.Ser614Tyr)
c.1835C>A (p.Ser612Tyr)
c.1823C>A (p.Ser608Tyr)
c.1778C>A (p.Ser593Tyr)
c.1775C>A (p.Ser592Tyr)
c.1712C>A (p.Ser571Tyr)
c.1574C>A (p.Ser525Tyr)
c.1469C>A (p.Ser490Tyr)
c.1799C>A (p.Ser600Tyr)
c.1796C>A (p.Ser599Tyr)
c.1733C>A (p.Ser578Tyr)
c.1688C>A (p.Ser563Tyr)
c.1484C>A (p.Ser495Tyr)
c.1784C>A (p.Ser595Tyr)
c.1535C>A (p.Ser512Tyr)
n.3865G>T
n.825C>A
5g.96762320C>GCA360484957CAST,ERAP1c.800C>G (p.Ser267Cys)
c.1730C>G (p.Ser577Cys)
c.1508C>G (p.Ser503Cys)
c.1337C>G (p.Ser446Cys)
c.1622C>G (p.Ser541Cys)
c.1814C>G (p.Ser605Cys)
c.1880C>G (p.Ser627Cys)
c.261C>G
c.1782C>G
c.*1504C>G (n.*1504C>G)
c.597C>G
c.1493C>G (p.Ser498Cys)
c.1550C>G (p.Ser517Cys)
c.1769C>G (p.Ser590Cys)
n.424C>G
c.1424C>G (p.Ser475Cys)
c.*880G>C (n.*880G>C)
c.1565C>G (p.Ser522Cys)
c.1592C>G (p.Ser531Cys)
c.1631C>G (p.Ser544Cys)
n.1573C>G
c.1757C>G (p.Ser586Cys)
c.886C>G
c.858C>G
c.1415C>G (p.Ser472Cys)
c.776C>G (p.Ser259Cys)
c.1526C>G (p.Ser509Cys)
c.116C>G (p.Ser39Cys)
c.903C>G
c.1589C>G (p.Ser530Cys)
n.887C>G
c.1841C>G (p.Ser614Cys)
c.1835C>G (p.Ser612Cys)
c.1823C>G (p.Ser608Cys)
c.1778C>G (p.Ser593Cys)
c.1775C>G (p.Ser592Cys)
c.1712C>G (p.Ser571Cys)
c.1574C>G (p.Ser525Cys)
c.1469C>G (p.Ser490Cys)
c.1799C>G (p.Ser600Cys)
c.1796C>G (p.Ser599Cys)
c.1733C>G (p.Ser578Cys)
c.1688C>G (p.Ser563Cys)
c.1484C>G (p.Ser495Cys)
c.1784C>G (p.Ser595Cys)
c.1535C>G (p.Ser512Cys)
n.3865G>C
n.825C>G
5g.96762320C>TCA360484956CAST,ERAP1c.800C>T (p.Ser267Phe)
c.1730C>T (p.Ser577Phe)
c.1508C>T (p.Ser503Phe)
c.1337C>T (p.Ser446Phe)
c.1622C>T (p.Ser541Phe)
c.1814C>T (p.Ser605Phe)
c.1880C>T (p.Ser627Phe)
c.261C>T
c.1782C>T
c.*1504C>T (n.*1504C>T)
c.597C>T
c.1493C>T (p.Ser498Phe)
c.1550C>T (p.Ser517Phe)
c.1769C>T (p.Ser590Phe)
n.424C>T
c.1424C>T (p.Ser475Phe)
c.*880G>A (n.*880G>A)
c.1565C>T (p.Ser522Phe)
c.1592C>T (p.Ser531Phe)
c.1631C>T (p.Ser544Phe)
n.1573C>T
c.1757C>T (p.Ser586Phe)
c.886C>T
c.858C>T
c.1415C>T (p.Ser472Phe)
c.776C>T (p.Ser259Phe)
c.1526C>T (p.Ser509Phe)
c.116C>T (p.Ser39Phe)
c.903C>T
c.1589C>T (p.Ser530Phe)
n.887C>T
c.1841C>T (p.Ser614Phe)
c.1835C>T (p.Ser612Phe)
c.1823C>T (p.Ser608Phe)
c.1778C>T (p.Ser593Phe)
c.1775C>T (p.Ser592Phe)
c.1712C>T (p.Ser571Phe)
c.1574C>T (p.Ser525Phe)
c.1469C>T (p.Ser490Phe)
c.1799C>T (p.Ser600Phe)
c.1796C>T (p.Ser599Phe)
c.1733C>T (p.Ser578Phe)
c.1688C>T (p.Ser563Phe)
c.1484C>T (p.Ser495Phe)
c.1784C>T (p.Ser595Phe)
c.1535C>T (p.Ser512Phe)
n.3865G>A
n.825C>T
 gnomAD v4
5g.96762321C>ACA445511057CAST,ERAP1c.801C>A (p.Ser267=)
c.1731C>A (p.Ser577=)
c.1509C>A (p.Ser503=)
c.1338C>A (p.Ser446=)
c.1623C>A (p.Ser541=)
c.1815C>A (p.Ser605=)
c.1881C>A (p.Ser627=)
c.262C>A
c.1783C>A
c.*1505C>A (n.*1505C>A)
c.598C>A
c.1494C>A (p.Ser498=)
c.1551C>A (p.Ser517=)
c.1770C>A (p.Ser590=)
n.425C>A
c.1425C>A (p.Ser475=)
c.*879G>T (n.*879G>T)
c.1566C>A (p.Ser522=)
c.1593C>A (p.Ser531=)
c.1632C>A (p.Ser544=)
n.1574C>A
c.1758C>A (p.Ser586=)
c.887C>A
c.859C>A
c.1416C>A (p.Ser472=)
c.777C>A (p.Ser259=)
c.1527C>A (p.Ser509=)
c.117C>A (p.Ser39=)
c.904C>A
c.1590C>A (p.Ser530=)
n.888C>A
c.1842C>A (p.Ser614=)
c.1836C>A (p.Ser612=)
c.1824C>A (p.Ser608=)
c.1779C>A (p.Ser593=)
c.1776C>A (p.Ser592=)
c.1713C>A (p.Ser571=)
c.1575C>A (p.Ser525=)
c.1470C>A (p.Ser490=)
c.1800C>A (p.Ser600=)
c.1797C>A (p.Ser599=)
c.1734C>A (p.Ser578=)
c.1689C>A (p.Ser563=)
c.1485C>A (p.Ser495=)
c.1785C>A (p.Ser595=)
c.1536C>A (p.Ser512=)
n.3864G>T
n.826C>A
5g.96762321C=CA1565569287CAST,ERAP1c.801C= (p.Ser267=)
c.1731C= (p.Ser577=)
c.1509C= (p.Ser503=)
c.1338C= (p.Ser446=)
c.1623C= (p.Ser541=)
c.1815C= (p.Ser605=)
c.1881C= (p.Ser627=)
c.262C=
c.1783C=
c.*1505C= (n.*1505C=)
c.598C=
c.1494C= (p.Ser498=)
c.1551C= (p.Ser517=)
c.1770C= (p.Ser590=)
n.425C=
c.1425C= (p.Ser475=)
c.*879G= (n.*879G=)
c.1566C= (p.Ser522=)
c.1593C= (p.Ser531=)
c.1632C= (p.Ser544=)
n.1574C=
c.1758C= (p.Ser586=)
c.887C=
c.859C=
c.1416C= (p.Ser472=)
c.777C= (p.Ser259=)
c.1527C= (p.Ser509=)
c.117C= (p.Ser39=)
c.904C=
c.1590C= (p.Ser530=)
n.888C=
c.1842C= (p.Ser614=)
c.1836C= (p.Ser612=)
c.1824C= (p.Ser608=)
c.1779C= (p.Ser593=)
c.1776C= (p.Ser592=)
c.1713C= (p.Ser571=)
c.1575C= (p.Ser525=)
c.1470C= (p.Ser490=)
c.1800C= (p.Ser600=)
c.1797C= (p.Ser599=)
c.1734C= (p.Ser578=)
c.1689C= (p.Ser563=)
c.1485C= (p.Ser495=)
c.1785C= (p.Ser595=)
c.1536C= (p.Ser512=)
n.3864G=
n.826C=
5g.96762321C>GCA445511058CAST,ERAP1c.801C>G (p.Ser267=)
c.1731C>G (p.Ser577=)
c.1509C>G (p.Ser503=)
c.1338C>G (p.Ser446=)
c.1623C>G (p.Ser541=)
c.1815C>G (p.Ser605=)
c.1881C>G (p.Ser627=)
c.262C>G
c.1783C>G
c.*1505C>G (n.*1505C>G)
c.598C>G
c.1494C>G (p.Ser498=)
c.1551C>G (p.Ser517=)
c.1770C>G (p.Ser590=)
n.425C>G
c.1425C>G (p.Ser475=)
c.*879G>C (n.*879G>C)
c.1566C>G (p.Ser522=)
c.1593C>G (p.Ser531=)
c.1632C>G (p.Ser544=)
n.1574C>G
c.1758C>G (p.Ser586=)
c.887C>G
c.859C>G
c.1416C>G (p.Ser472=)
c.777C>G (p.Ser259=)
c.1527C>G (p.Ser509=)
c.117C>G (p.Ser39=)
c.904C>G
c.1590C>G (p.Ser530=)
n.888C>G
c.1842C>G (p.Ser614=)
c.1836C>G (p.Ser612=)
c.1824C>G (p.Ser608=)
c.1779C>G (p.Ser593=)
c.1776C>G (p.Ser592=)
c.1713C>G (p.Ser571=)
c.1575C>G (p.Ser525=)
c.1470C>G (p.Ser490=)
c.1800C>G (p.Ser600=)
c.1797C>G (p.Ser599=)
c.1734C>G (p.Ser578=)
c.1689C>G (p.Ser563=)
c.1485C>G (p.Ser495=)
c.1785C>G (p.Ser595=)
c.1536C>G (p.Ser512=)
n.3864G>C
n.826C>G
5g.96762321C>TCA445511059CAST,ERAP1c.801C>T (p.Ser267=)
c.1731C>T (p.Ser577=)
c.1509C>T (p.Ser503=)
c.1338C>T (p.Ser446=)
c.1623C>T (p.Ser541=)
c.1815C>T (p.Ser605=)
c.1881C>T (p.Ser627=)
c.262C>T
c.1783C>T
c.*1505C>T (n.*1505C>T)
c.598C>T
c.1494C>T (p.Ser498=)
c.1551C>T (p.Ser517=)
c.1770C>T (p.Ser590=)
n.425C>T
c.1425C>T (p.Ser475=)
c.*879G>A (n.*879G>A)
c.1566C>T (p.Ser522=)
c.1593C>T (p.Ser531=)
c.1632C>T (p.Ser544=)
n.1574C>T
c.1758C>T (p.Ser586=)
c.887C>T
c.859C>T
c.1416C>T (p.Ser472=)
c.777C>T (p.Ser259=)
c.1527C>T (p.Ser509=)
c.117C>T (p.Ser39=)
c.904C>T
c.1590C>T (p.Ser530=)
n.888C>T
c.1842C>T (p.Ser614=)
c.1836C>T (p.Ser612=)
c.1824C>T (p.Ser608=)
c.1779C>T (p.Ser593=)
c.1776C>T (p.Ser592=)
c.1713C>T (p.Ser571=)
c.1575C>T (p.Ser525=)
c.1470C>T (p.Ser490=)
c.1800C>T (p.Ser600=)
c.1797C>T (p.Ser599=)
c.1734C>T (p.Ser578=)
c.1689C>T (p.Ser563=)
c.1485C>T (p.Ser495=)
c.1785C>T (p.Ser595=)
c.1536C>T (p.Ser512=)
n.3864G>A
n.826C>T
 dbSNP gnomAD v4
5g.96762322C>ACA360484958CAST,ERAP1c.802C>A (p.Gln268Lys)
c.1732C>A (p.Gln578Lys)
c.1510C>A (p.Gln504Lys)
c.1339C>A (p.Gln447Lys)
c.1624C>A (p.Gln542Lys)
c.1816C>A (p.Gln606Lys)
c.1882C>A (p.Gln628Lys)
c.263C>A
c.1784C>A
c.*1506C>A (n.*1506C>A)
c.599C>A
c.1495C>A (p.Gln499Lys)
c.1552C>A (p.Gln518Lys)
c.1771C>A (p.Gln591Lys)
n.426C>A
c.1426C>A (p.Gln476Lys)
c.*878G>T (n.*878G>T)
c.1567C>A (p.Gln523Lys)
c.1594C>A (p.Gln532Lys)
c.1633C>A (p.Gln545Lys)
n.1575C>A
c.1759C>A (p.Gln587Lys)
c.888C>A
c.860C>A
c.1417C>A (p.Gln473Lys)
c.778C>A (p.Gln260Lys)
c.1528C>A (p.Gln510Lys)
c.118C>A (p.Gln40Lys)
c.905C>A
c.1591C>A (p.Gln531Lys)
n.889C>A
c.1843C>A (p.Gln615Lys)
c.1837C>A (p.Gln613Lys)
c.1825C>A (p.Gln609Lys)
c.1780C>A (p.Gln594Lys)
c.1777C>A (p.Gln593Lys)
c.1714C>A (p.Gln572Lys)
c.1576C>A (p.Gln526Lys)
c.1471C>A (p.Gln491Lys)
c.1801C>A (p.Gln601Lys)
c.1798C>A (p.Gln600Lys)
c.1735C>A (p.Gln579Lys)
c.1690C>A (p.Gln564Lys)
c.1486C>A (p.Gln496Lys)
c.1786C>A (p.Gln596Lys)
c.1537C>A (p.Gln513Lys)
n.3863G>T
n.827C>A
5g.96762322C>GCA360484959CAST,ERAP1c.802C>G (p.Gln268Glu)
c.1732C>G (p.Gln578Glu)
c.1510C>G (p.Gln504Glu)
c.1339C>G (p.Gln447Glu)
c.1624C>G (p.Gln542Glu)
c.1816C>G (p.Gln606Glu)
c.1882C>G (p.Gln628Glu)
c.263C>G
c.1784C>G
c.*1506C>G (n.*1506C>G)
c.599C>G
c.1495C>G (p.Gln499Glu)
c.1552C>G (p.Gln518Glu)
c.1771C>G (p.Gln591Glu)
n.426C>G
c.1426C>G (p.Gln476Glu)
c.*878G>C (n.*878G>C)
c.1567C>G (p.Gln523Glu)
c.1594C>G (p.Gln532Glu)
c.1633C>G (p.Gln545Glu)
n.1575C>G
c.1759C>G (p.Gln587Glu)
c.888C>G
c.860C>G
c.1417C>G (p.Gln473Glu)
c.778C>G (p.Gln260Glu)
c.1528C>G (p.Gln510Glu)
c.118C>G (p.Gln40Glu)
c.905C>G
c.1591C>G (p.Gln531Glu)
n.889C>G
c.1843C>G (p.Gln615Glu)
c.1837C>G (p.Gln613Glu)
c.1825C>G (p.Gln609Glu)
c.1780C>G (p.Gln594Glu)
c.1777C>G (p.Gln593Glu)
c.1714C>G (p.Gln572Glu)
c.1576C>G (p.Gln526Glu)
c.1471C>G (p.Gln491Glu)
c.1801C>G (p.Gln601Glu)
c.1798C>G (p.Gln600Glu)
c.1735C>G (p.Gln579Glu)
c.1690C>G (p.Gln564Glu)
c.1486C>G (p.Gln496Glu)
c.1786C>G (p.Gln596Glu)
c.1537C>G (p.Gln513Glu)
n.3863G>C
n.827C>G
5g.96762322C>TCA360484960CAST,ERAP1c.802C>T (p.Gln268Ter)
c.1732C>T (p.Gln578Ter)
c.1510C>T (p.Gln504Ter)
c.1339C>T (p.Gln447Ter)
c.1624C>T (p.Gln542Ter)
c.1816C>T (p.Gln606Ter)
c.1882C>T (p.Gln628Ter)
c.263C>T
c.1784C>T
c.*1506C>T (n.*1506C>T)
c.599C>T
c.1495C>T (p.Gln499Ter)
c.1552C>T (p.Gln518Ter)
c.1771C>T (p.Gln591Ter)
n.426C>T
c.1426C>T (p.Gln476Ter)
c.*878G>A (n.*878G>A)
c.1567C>T (p.Gln523Ter)
c.1594C>T (p.Gln532Ter)
c.1633C>T (p.Gln545Ter)
n.1575C>T
c.1759C>T (p.Gln587Ter)
c.888C>T
c.860C>T
c.1417C>T (p.Gln473Ter)
c.778C>T (p.Gln260Ter)
c.1528C>T (p.Gln510Ter)
c.118C>T (p.Gln40Ter)
c.905C>T
c.1591C>T (p.Gln531Ter)
n.889C>T
c.1843C>T (p.Gln615Ter)
c.1837C>T (p.Gln613Ter)
c.1825C>T (p.Gln609Ter)
c.1780C>T (p.Gln594Ter)
c.1777C>T (p.Gln593Ter)
c.1714C>T (p.Gln572Ter)
c.1576C>T (p.Gln526Ter)
c.1471C>T (p.Gln491Ter)
c.1801C>T (p.Gln601Ter)
c.1798C>T (p.Gln600Ter)
c.1735C>T (p.Gln579Ter)
c.1690C>T (p.Gln564Ter)
c.1486C>T (p.Gln496Ter)
c.1786C>T (p.Gln596Ter)
c.1537C>T (p.Gln513Ter)
n.3863G>A
n.827C>T
5g.96762323A=CA1565569288CAST,ERAP1c.803A= (p.Gln268=)
c.1733A= (p.Gln578=)
c.1511A= (p.Gln504=)
c.1340A= (p.Gln447=)
c.1625A= (p.Gln542=)
c.1817A= (p.Gln606=)
c.1883A= (p.Gln628=)
c.264A=
c.1785A=
c.*1507A= (n.*1507A=)
c.600A=
c.1496A= (p.Gln499=)
c.1553A= (p.Gln518=)
c.1772A= (p.Gln591=)
n.427A=
c.1427A= (p.Gln476=)
c.*877T= (n.*877T=)
c.1568A= (p.Gln523=)
c.1595A= (p.Gln532=)
c.1634A= (p.Gln545=)
n.1576A=
c.1760A= (p.Gln587=)
c.889A=
c.861A=
c.1418A= (p.Gln473=)
c.779A= (p.Gln260=)
c.1529A= (p.Gln510=)
c.119A= (p.Gln40=)
c.906A=
c.1592A= (p.Gln531=)
n.890A=
c.1844A= (p.Gln615=)
c.1838A= (p.Gln613=)
c.1826A= (p.Gln609=)
c.1781A= (p.Gln594=)
c.1778A= (p.Gln593=)
c.1715A= (p.Gln572=)
c.1577A= (p.Gln526=)
c.1472A= (p.Gln491=)
c.1802A= (p.Gln601=)
c.1799A= (p.Gln600=)
c.1736A= (p.Gln579=)
c.1691A= (p.Gln564=)
c.1487A= (p.Gln496=)
c.1787A= (p.Gln596=)
c.1538A= (p.Gln513=)
n.3862T=
n.828A=
5g.96762323A>CCA360484961CAST,ERAP1c.803A>C (p.Gln268Pro)
c.1733A>C (p.Gln578Pro)
c.1511A>C (p.Gln504Pro)
c.1340A>C (p.Gln447Pro)
c.1625A>C (p.Gln542Pro)
c.1817A>C (p.Gln606Pro)
c.1883A>C (p.Gln628Pro)
c.264A>C
c.1785A>C
c.*1507A>C (n.*1507A>C)
c.600A>C
c.1496A>C (p.Gln499Pro)
c.1553A>C (p.Gln518Pro)
c.1772A>C (p.Gln591Pro)
n.427A>C
c.1427A>C (p.Gln476Pro)
c.*877T>G (n.*877T>G)
c.1568A>C (p.Gln523Pro)
c.1595A>C (p.Gln532Pro)
c.1634A>C (p.Gln545Pro)
n.1576A>C
c.1760A>C (p.Gln587Pro)
c.889A>C
c.861A>C
c.1418A>C (p.Gln473Pro)
c.779A>C (p.Gln260Pro)
c.1529A>C (p.Gln510Pro)
c.119A>C (p.Gln40Pro)
c.906A>C
c.1592A>C (p.Gln531Pro)
n.890A>C
c.1844A>C (p.Gln615Pro)
c.1838A>C (p.Gln613Pro)
c.1826A>C (p.Gln609Pro)
c.1781A>C (p.Gln594Pro)
c.1778A>C (p.Gln593Pro)
c.1715A>C (p.Gln572Pro)
c.1577A>C (p.Gln526Pro)
c.1472A>C (p.Gln491Pro)
c.1802A>C (p.Gln601Pro)
c.1799A>C (p.Gln600Pro)
c.1736A>C (p.Gln579Pro)
c.1691A>C (p.Gln564Pro)
c.1487A>C (p.Gln496Pro)
c.1787A>C (p.Gln596Pro)
c.1538A>C (p.Gln513Pro)
n.3862T>G
n.828A>C
5g.96762323A>GCA122976509CAST,ERAP1c.803A>G (p.Gln268Arg)
c.1733A>G (p.Gln578Arg)
c.1511A>G (p.Gln504Arg)
c.1340A>G (p.Gln447Arg)
c.1625A>G (p.Gln542Arg)
c.1817A>G (p.Gln606Arg)
c.1883A>G (p.Gln628Arg)
c.264A>G
c.1785A>G
c.*1507A>G (n.*1507A>G)
c.600A>G
c.1496A>G (p.Gln499Arg)
c.1553A>G (p.Gln518Arg)
c.1772A>G (p.Gln591Arg)
n.427A>G
c.1427A>G (p.Gln476Arg)
c.*877T>C (n.*877T>C)
c.1568A>G (p.Gln523Arg)
c.1595A>G (p.Gln532Arg)
c.1634A>G (p.Gln545Arg)
n.1576A>G
c.1760A>G (p.Gln587Arg)
c.889A>G
c.861A>G
c.1418A>G (p.Gln473Arg)
c.779A>G (p.Gln260Arg)
c.1529A>G (p.Gln510Arg)
c.119A>G (p.Gln40Arg)
c.906A>G
c.1592A>G (p.Gln531Arg)
n.890A>G
c.1844A>G (p.Gln615Arg)
c.1838A>G (p.Gln613Arg)
c.1826A>G (p.Gln609Arg)
c.1781A>G (p.Gln594Arg)
c.1778A>G (p.Gln593Arg)
c.1715A>G (p.Gln572Arg)
c.1577A>G (p.Gln526Arg)
c.1472A>G (p.Gln491Arg)
c.1802A>G (p.Gln601Arg)
c.1799A>G (p.Gln600Arg)
c.1736A>G (p.Gln579Arg)
c.1691A>G (p.Gln564Arg)
c.1487A>G (p.Gln496Arg)
c.1787A>G (p.Gln596Arg)
c.1538A>G (p.Gln513Arg)
n.3862T>C
n.828A>G
 dbSNP gnomAD v2 gnomAD v4
5g.96762323A>TCA360484962CAST,ERAP1c.803A>T (p.Gln268Leu)
c.1733A>T (p.Gln578Leu)
c.1511A>T (p.Gln504Leu)
c.1340A>T (p.Gln447Leu)
c.1625A>T (p.Gln542Leu)
c.1817A>T (p.Gln606Leu)
c.1883A>T (p.Gln628Leu)
c.264A>T
c.1785A>T
c.*1507A>T (n.*1507A>T)
c.600A>T
c.1496A>T (p.Gln499Leu)
c.1553A>T (p.Gln518Leu)
c.1772A>T (p.Gln591Leu)
n.427A>T
c.1427A>T (p.Gln476Leu)
c.*877T>A (n.*877T>A)
c.1568A>T (p.Gln523Leu)
c.1595A>T (p.Gln532Leu)
c.1634A>T (p.Gln545Leu)
n.1576A>T
c.1760A>T (p.Gln587Leu)
c.889A>T
c.861A>T
c.1418A>T (p.Gln473Leu)
c.779A>T (p.Gln260Leu)
c.1529A>T (p.Gln510Leu)
c.119A>T (p.Gln40Leu)
c.906A>T
c.1592A>T (p.Gln531Leu)
n.890A>T
c.1844A>T (p.Gln615Leu)
c.1838A>T (p.Gln613Leu)
c.1826A>T (p.Gln609Leu)
c.1781A>T (p.Gln594Leu)
c.1778A>T (p.Gln593Leu)
c.1715A>T (p.Gln572Leu)
c.1577A>T (p.Gln526Leu)
c.1472A>T (p.Gln491Leu)
c.1802A>T (p.Gln601Leu)
c.1799A>T (p.Gln600Leu)
c.1736A>T (p.Gln579Leu)
c.1691A>T (p.Gln564Leu)
c.1487A>T (p.Gln496Leu)
c.1787A>T (p.Gln596Leu)
c.1538A>T (p.Gln513Leu)
n.3862T>A
n.828A>T
5g.96762324A>CCA360484963CAST,ERAP1c.804A>C (p.Gln268His)
c.1734A>C (p.Gln578His)
c.1512A>C (p.Gln504His)
c.1341A>C (p.Gln447His)
c.1626A>C (p.Gln542His)
c.1818A>C (p.Gln606His)
c.1884A>C (p.Gln628His)
c.265A>C
c.1786A>C
c.*1508A>C (n.*1508A>C)
c.601A>C
c.1497A>C (p.Gln499His)
c.1554A>C (p.Gln518His)
c.1773A>C (p.Gln591His)
n.428A>C
c.1428A>C (p.Gln476His)
c.*876T>G (n.*876T>G)
c.1569A>C (p.Gln523His)
c.1596A>C (p.Gln532His)
c.1635A>C (p.Gln545His)
n.1577A>C
c.1761A>C (p.Gln587His)
c.890A>C
c.862A>C
c.1419A>C (p.Gln473His)
c.780A>C (p.Gln260His)
c.1530A>C (p.Gln510His)
c.120A>C (p.Gln40His)
c.907A>C
c.1593A>C (p.Gln531His)
n.891A>C
c.1845A>C (p.Gln615His)
c.1839A>C (p.Gln613His)
c.1827A>C (p.Gln609His)
c.1782A>C (p.Gln594His)
c.1779A>C (p.Gln593His)
c.1716A>C (p.Gln572His)
c.1578A>C (p.Gln526His)
c.1473A>C (p.Gln491His)
c.1803A>C (p.Gln601His)
c.1800A>C (p.Gln600His)
c.1737A>C (p.Gln579His)
c.1692A>C (p.Gln564His)
c.1488A>C (p.Gln496His)
c.1788A>C (p.Gln596His)
c.1539A>C (p.Gln513His)
n.3861T>G
n.829A>C
5g.96762324A>GCA445511064CAST,ERAP1c.804A>G (p.Gln268=)
c.1734A>G (p.Gln578=)
c.1512A>G (p.Gln504=)
c.1341A>G (p.Gln447=)
c.1626A>G (p.Gln542=)
c.1818A>G (p.Gln606=)
c.1884A>G (p.Gln628=)
c.265A>G
c.1786A>G
c.*1508A>G (n.*1508A>G)
c.601A>G
c.1497A>G (p.Gln499=)
c.1554A>G (p.Gln518=)
c.1773A>G (p.Gln591=)
n.428A>G
c.1428A>G (p.Gln476=)
c.*876T>C (n.*876T>C)
c.1569A>G (p.Gln523=)
c.1596A>G (p.Gln532=)
c.1635A>G (p.Gln545=)
n.1577A>G
c.1761A>G (p.Gln587=)
c.890A>G
c.862A>G
c.1419A>G (p.Gln473=)
c.780A>G (p.Gln260=)
c.1530A>G (p.Gln510=)
c.120A>G (p.Gln40=)
c.907A>G
c.1593A>G (p.Gln531=)
n.891A>G
c.1845A>G (p.Gln615=)
c.1839A>G (p.Gln613=)
c.1827A>G (p.Gln609=)
c.1782A>G (p.Gln594=)
c.1779A>G (p.Gln593=)
c.1716A>G (p.Gln572=)
c.1578A>G (p.Gln526=)
c.1473A>G (p.Gln491=)
c.1803A>G (p.Gln601=)
c.1800A>G (p.Gln600=)
c.1737A>G (p.Gln579=)
c.1692A>G (p.Gln564=)
c.1488A>G (p.Gln496=)
c.1788A>G (p.Gln596=)
c.1539A>G (p.Gln513=)
n.3861T>C
n.829A>G
5g.96762324A>TCA360484964CAST,ERAP1c.804A>T (p.Gln268His)
c.1734A>T (p.Gln578His)
c.1512A>T (p.Gln504His)
c.1341A>T (p.Gln447His)
c.1626A>T (p.Gln542His)
c.1818A>T (p.Gln606His)
c.1884A>T (p.Gln628His)
c.265A>T
c.1786A>T
c.*1508A>T (n.*1508A>T)
c.601A>T
c.1497A>T (p.Gln499His)
c.1554A>T (p.Gln518His)
c.1773A>T (p.Gln591His)
n.428A>T
c.1428A>T (p.Gln476His)
c.*876T>A (n.*876T>A)
c.1569A>T (p.Gln523His)
c.1596A>T (p.Gln532His)
c.1635A>T (p.Gln545His)
n.1577A>T
c.1761A>T (p.Gln587His)
c.890A>T
c.862A>T
c.1419A>T (p.Gln473His)
c.780A>T (p.Gln260His)
c.1530A>T (p.Gln510His)
c.120A>T (p.Gln40His)
c.907A>T
c.1593A>T (p.Gln531His)
n.891A>T
c.1845A>T (p.Gln615His)
c.1839A>T (p.Gln613His)
c.1827A>T (p.Gln609His)
c.1782A>T (p.Gln594His)
c.1779A>T (p.Gln593His)
c.1716A>T (p.Gln572His)
c.1578A>T (p.Gln526His)
c.1473A>T (p.Gln491His)
c.1803A>T (p.Gln601His)
c.1800A>T (p.Gln600His)
c.1737A>T (p.Gln579His)
c.1692A>T (p.Gln564His)
c.1488A>T (p.Gln496His)
c.1788A>T (p.Gln596His)
c.1539A>T (p.Gln513His)
n.3861T>A
n.829A>T
5g.96762325A=CA1565569289CAST,ERAP1c.805A= (p.Thr269=)
c.1735A= (p.Thr579=)
c.1513A= (p.Thr505=)
c.1342A= (p.Thr448=)
c.1627A= (p.Thr543=)
c.1819A= (p.Thr607=)
c.1885A= (p.Thr629=)
c.266A=
c.1787A=
c.*1509A= (n.*1509A=)
c.602A=
c.1498A= (p.Thr500=)
c.1555A= (p.Thr519=)
c.1774A= (p.Thr592=)
n.429A=
c.1429A= (p.Thr477=)
c.*875T= (n.*875T=)
c.1570A= (p.Thr524=)
c.1597A= (p.Thr533=)
c.1636A= (p.Thr546=)
n.1578A=
c.1762A= (p.Thr588=)
c.891A=
c.863A=
c.1420A= (p.Thr474=)
c.781A= (p.Thr261=)
c.1531A= (p.Thr511=)
c.121A= (p.Thr41=)
c.908A=
c.1594A= (p.Thr532=)
n.892A=
c.1846A= (p.Thr616=)
c.1840A= (p.Thr614=)
c.1828A= (p.Thr610=)
c.1783A= (p.Thr595=)
c.1780A= (p.Thr594=)
c.1717A= (p.Thr573=)
c.1579A= (p.Thr527=)
c.1474A= (p.Thr492=)
c.1804A= (p.Thr602=)
c.1801A= (p.Thr601=)
c.1738A= (p.Thr580=)
c.1693A= (p.Thr565=)
c.1489A= (p.Thr497=)
c.1789A= (p.Thr597=)
c.1540A= (p.Thr514=)
n.3860T=
n.830A=
5g.96762325A>CCA360484965CAST,ERAP1c.805A>C (p.Thr269Pro)
c.1735A>C (p.Thr579Pro)
c.1513A>C (p.Thr505Pro)
c.1342A>C (p.Thr448Pro)
c.1627A>C (p.Thr543Pro)
c.1819A>C (p.Thr607Pro)
c.1885A>C (p.Thr629Pro)
c.266A>C
c.1787A>C
c.*1509A>C (n.*1509A>C)
c.602A>C
c.1498A>C (p.Thr500Pro)
c.1555A>C (p.Thr519Pro)
c.1774A>C (p.Thr592Pro)
n.429A>C
c.1429A>C (p.Thr477Pro)
c.*875T>G (n.*875T>G)
c.1570A>C (p.Thr524Pro)
c.1597A>C (p.Thr533Pro)
c.1636A>C (p.Thr546Pro)
n.1578A>C
c.1762A>C (p.Thr588Pro)
c.891A>C
c.863A>C
c.1420A>C (p.Thr474Pro)
c.781A>C (p.Thr261Pro)
c.1531A>C (p.Thr511Pro)
c.121A>C (p.Thr41Pro)
c.908A>C
c.1594A>C (p.Thr532Pro)
n.892A>C
c.1846A>C (p.Thr616Pro)
c.1840A>C (p.Thr614Pro)
c.1828A>C (p.Thr610Pro)
c.1783A>C (p.Thr595Pro)
c.1780A>C (p.Thr594Pro)
c.1717A>C (p.Thr573Pro)
c.1579A>C (p.Thr527Pro)
c.1474A>C (p.Thr492Pro)
c.1804A>C (p.Thr602Pro)
c.1801A>C (p.Thr601Pro)
c.1738A>C (p.Thr580Pro)
c.1693A>C (p.Thr565Pro)
c.1489A>C (p.Thr497Pro)
c.1789A>C (p.Thr597Pro)
c.1540A>C (p.Thr514Pro)
n.3860T>G
n.830A>C
5g.96762325A>GCA360484966CAST,ERAP1c.805A>G (p.Thr269Ala)
c.1735A>G (p.Thr579Ala)
c.1513A>G (p.Thr505Ala)
c.1342A>G (p.Thr448Ala)
c.1627A>G (p.Thr543Ala)
c.1819A>G (p.Thr607Ala)
c.1885A>G (p.Thr629Ala)
c.266A>G
c.1787A>G
c.*1509A>G (n.*1509A>G)
c.602A>G
c.1498A>G (p.Thr500Ala)
c.1555A>G (p.Thr519Ala)
c.1774A>G (p.Thr592Ala)
n.429A>G
c.1429A>G (p.Thr477Ala)
c.*875T>C (n.*875T>C)
c.1570A>G (p.Thr524Ala)
c.1597A>G (p.Thr533Ala)
c.1636A>G (p.Thr546Ala)
n.1578A>G
c.1762A>G (p.Thr588Ala)
c.891A>G
c.863A>G
c.1420A>G (p.Thr474Ala)
c.781A>G (p.Thr261Ala)
c.1531A>G (p.Thr511Ala)
c.121A>G (p.Thr41Ala)
c.908A>G
c.1594A>G (p.Thr532Ala)
n.892A>G
c.1846A>G (p.Thr616Ala)
c.1840A>G (p.Thr614Ala)
c.1828A>G (p.Thr610Ala)
c.1783A>G (p.Thr595Ala)
c.1780A>G (p.Thr594Ala)
c.1717A>G (p.Thr573Ala)
c.1579A>G (p.Thr527Ala)
c.1474A>G (p.Thr492Ala)
c.1804A>G (p.Thr602Ala)
c.1801A>G (p.Thr601Ala)
c.1738A>G (p.Thr580Ala)
c.1693A>G (p.Thr565Ala)
c.1489A>G (p.Thr497Ala)
c.1789A>G (p.Thr597Ala)
c.1540A>G (p.Thr514Ala)
n.3860T>C
n.830A>G
5g.96762325A>TCA360484967CAST,ERAP1c.805A>T (p.Thr269Ser)
c.1735A>T (p.Thr579Ser)
c.1513A>T (p.Thr505Ser)
c.1342A>T (p.Thr448Ser)
c.1627A>T (p.Thr543Ser)
c.1819A>T (p.Thr607Ser)
c.1885A>T (p.Thr629Ser)
c.266A>T
c.1787A>T
c.*1509A>T (n.*1509A>T)
c.602A>T
c.1498A>T (p.Thr500Ser)
c.1555A>T (p.Thr519Ser)
c.1774A>T (p.Thr592Ser)
n.429A>T
c.1429A>T (p.Thr477Ser)
c.*875T>A (n.*875T>A)
c.1570A>T (p.Thr524Ser)
c.1597A>T (p.Thr533Ser)
c.1636A>T (p.Thr546Ser)
n.1578A>T
c.1762A>T (p.Thr588Ser)
c.891A>T
c.863A>T
c.1420A>T (p.Thr474Ser)
c.781A>T (p.Thr261Ser)
c.1531A>T (p.Thr511Ser)
c.121A>T (p.Thr41Ser)
c.908A>T
c.1594A>T (p.Thr532Ser)
n.892A>T
c.1846A>T (p.Thr616Ser)
c.1840A>T (p.Thr614Ser)
c.1828A>T (p.Thr610Ser)
c.1783A>T (p.Thr595Ser)
c.1780A>T (p.Thr594Ser)
c.1717A>T (p.Thr573Ser)
c.1579A>T (p.Thr527Ser)
c.1474A>T (p.Thr492Ser)
c.1804A>T (p.Thr602Ser)
c.1801A>T (p.Thr601Ser)
c.1738A>T (p.Thr580Ser)
c.1693A>T (p.Thr565Ser)
c.1489A>T (p.Thr497Ser)
c.1789A>T (p.Thr597Ser)
c.1540A>T (p.Thr514Ser)
n.3860T>A
n.830A>T
5g.96762326C>ACA360484968CAST,ERAP1c.806C>A (p.Thr269Asn)
c.1736C>A (p.Thr579Asn)
c.1514C>A (p.Thr505Asn)
c.1343C>A (p.Thr448Asn)
c.1628C>A (p.Thr543Asn)
c.1820C>A (p.Thr607Asn)
c.1886C>A (p.Thr629Asn)
c.267C>A
c.1788C>A
c.*1510C>A (n.*1510C>A)
c.603C>A
c.1499C>A (p.Thr500Asn)
c.1556C>A (p.Thr519Asn)
c.1775C>A (p.Thr592Asn)
n.430C>A
c.1430C>A (p.Thr477Asn)
c.*874G>T (n.*874G>T)
c.1571C>A (p.Thr524Asn)
c.1598C>A (p.Thr533Asn)
c.1637C>A (p.Thr546Asn)
n.1579C>A
c.1763C>A (p.Thr588Asn)
c.892C>A
c.864C>A
c.1421C>A (p.Thr474Asn)
c.782C>A (p.Thr261Asn)
c.1532C>A (p.Thr511Asn)
c.122C>A (p.Thr41Asn)
c.909C>A
c.1595C>A (p.Thr532Asn)
n.893C>A
c.1847C>A (p.Thr616Asn)
c.1841C>A (p.Thr614Asn)
c.1829C>A (p.Thr610Asn)
c.1784C>A (p.Thr595Asn)
c.1781C>A (p.Thr594Asn)
c.1718C>A (p.Thr573Asn)
c.1580C>A (p.Thr527Asn)
c.1475C>A (p.Thr492Asn)
c.1805C>A (p.Thr602Asn)
c.1802C>A (p.Thr601Asn)
c.1739C>A (p.Thr580Asn)
c.1694C>A (p.Thr565Asn)
c.1490C>A (p.Thr497Asn)
c.1790C>A (p.Thr597Asn)
c.1541C>A (p.Thr514Asn)
n.3859G>T
n.831C>A
5g.96762326C>GCA360484970CAST,ERAP1c.806C>G (p.Thr269Ser)
c.1736C>G (p.Thr579Ser)
c.1514C>G (p.Thr505Ser)
c.1343C>G (p.Thr448Ser)
c.1628C>G (p.Thr543Ser)
c.1820C>G (p.Thr607Ser)
c.1886C>G (p.Thr629Ser)
c.267C>G
c.1788C>G
c.*1510C>G (n.*1510C>G)
c.603C>G
c.1499C>G (p.Thr500Ser)
c.1556C>G (p.Thr519Ser)
c.1775C>G (p.Thr592Ser)
n.430C>G
c.1430C>G (p.Thr477Ser)
c.*874G>C (n.*874G>C)
c.1571C>G (p.Thr524Ser)
c.1598C>G (p.Thr533Ser)
c.1637C>G (p.Thr546Ser)
n.1579C>G
c.1763C>G (p.Thr588Ser)
c.892C>G
c.864C>G
c.1421C>G (p.Thr474Ser)
c.782C>G (p.Thr261Ser)
c.1532C>G (p.Thr511Ser)
c.122C>G (p.Thr41Ser)
c.909C>G
c.1595C>G (p.Thr532Ser)
n.893C>G
c.1847C>G (p.Thr616Ser)
c.1841C>G (p.Thr614Ser)
c.1829C>G (p.Thr610Ser)
c.1784C>G (p.Thr595Ser)
c.1781C>G (p.Thr594Ser)
c.1718C>G (p.Thr573Ser)
c.1580C>G (p.Thr527Ser)
c.1475C>G (p.Thr492Ser)
c.1805C>G (p.Thr602Ser)
c.1802C>G (p.Thr601Ser)
c.1739C>G (p.Thr580Ser)
c.1694C>G (p.Thr565Ser)
c.1490C>G (p.Thr497Ser)
c.1790C>G (p.Thr597Ser)
c.1541C>G (p.Thr514Ser)
n.3859G>C
n.831C>G
5g.96762326C>TCA360484969CAST,ERAP1c.806C>T (p.Thr269Ile)
c.1736C>T (p.Thr579Ile)
c.1514C>T (p.Thr505Ile)
c.1343C>T (p.Thr448Ile)
c.1628C>T (p.Thr543Ile)
c.1820C>T (p.Thr607Ile)
c.1886C>T (p.Thr629Ile)
c.267C>T
c.1788C>T
c.*1510C>T (n.*1510C>T)
c.603C>T
c.1499C>T (p.Thr500Ile)
c.1556C>T (p.Thr519Ile)
c.1775C>T (p.Thr592Ile)
n.430C>T
c.1430C>T (p.Thr477Ile)
c.*874G>A (n.*874G>A)
c.1571C>T (p.Thr524Ile)
c.1598C>T (p.Thr533Ile)
c.1637C>T (p.Thr546Ile)
n.1579C>T
c.1763C>T (p.Thr588Ile)
c.892C>T
c.864C>T
c.1421C>T (p.Thr474Ile)
c.782C>T (p.Thr261Ile)
c.1532C>T (p.Thr511Ile)
c.122C>T (p.Thr41Ile)
c.909C>T
c.1595C>T (p.Thr532Ile)
n.893C>T
c.1847C>T (p.Thr616Ile)
c.1841C>T (p.Thr614Ile)
c.1829C>T (p.Thr610Ile)
c.1784C>T (p.Thr595Ile)
c.1781C>T (p.Thr594Ile)
c.1718C>T (p.Thr573Ile)
c.1580C>T (p.Thr527Ile)
c.1475C>T (p.Thr492Ile)
c.1805C>T (p.Thr602Ile)
c.1802C>T (p.Thr601Ile)
c.1739C>T (p.Thr580Ile)
c.1694C>T (p.Thr565Ile)
c.1490C>T (p.Thr497Ile)
c.1790C>T (p.Thr597Ile)
c.1541C>T (p.Thr514Ile)
n.3859G>A
n.831C>T
 gnomAD v4
5g.96762329dupCA815911427CAST,ERAP1c.809dup (p.Ala271SerfsTer12)
c.1739dup (p.Ala581SerfsTer12)
c.1517dup (p.Ala507SerfsTer12)
c.1346dup (p.Ala450SerfsTer12)
c.1631dup (p.Ala545SerfsTer12)
c.1823dup (p.Ala609SerfsTer12)
c.1889dup (p.Ala631SerfsTer12)
c.270dup
c.1791dup
c.*1513dup (n.*1513dup)
c.606dup
c.1502dup (p.Ala502SerfsTer12)
c.1559dup (p.Ala521SerfsTer12)
c.1778dup (p.Ala594SerfsTer12)
n.433dup
c.1433dup (p.Ala479SerfsTer12)
c.*874dup (n.*874dup)
c.1574dup (p.Ala526SerfsTer12)
c.1601dup (p.Ala535SerfsTer12)
c.1640dup (p.Ala548SerfsTer12)
n.1582dup
c.1766dup (p.Ala590SerfsTer12)
c.895dup
c.867dup
c.1424dup (p.Ala476SerfsTer12)
c.785dup (p.Ala263SerfsTer12)
c.1535dup (p.Ala513SerfsTer12)
c.125dup (p.Ala43SerfsTer12)
c.912dup
c.1598dup (p.Ala534SerfsTer12)
n.896dup
c.1850dup (p.Ala618SerfsTer12)
c.1844dup (p.Ala616SerfsTer12)
c.1832dup (p.Ala612SerfsTer12)
c.1787dup (p.Ala597SerfsTer12)
c.1784dup (p.Ala596SerfsTer12)
c.1721dup (p.Ala575SerfsTer12)
c.1583dup (p.Ala529SerfsTer12)
c.1478dup (p.Ala494SerfsTer12)
c.1808dup (p.Ala604SerfsTer12)
c.1805dup (p.Ala603SerfsTer12)
c.1742dup (p.Ala582SerfsTer12)
c.1697dup (p.Ala567SerfsTer12)
c.1493dup (p.Ala499SerfsTer12)
c.1793dup (p.Ala599SerfsTer12)
c.1544dup (p.Ala516SerfsTer12)
n.3859dup
n.834dup
 dbSNP gnomAD v3 gnomAD v4
5g.96762329delCA445511068CAST,ERAP1c.809del (p.Pro270GlnfsTer?)
c.1739del (p.Pro580GlnfsTer?)
c.1517del (p.Pro506GlnfsTer?)
c.1346del (p.Pro449GlnfsTer?)
c.1631del (p.Pro544GlnfsTer?)
c.1823del (p.Pro608GlnfsTer?)
c.1889del (p.Pro630GlnfsTer?)
c.270del
c.1791del
c.*1513del (n.*1513del)
c.606del
c.1502del (p.Pro501GlnfsTer?)
c.1559del (p.Pro520GlnfsTer?)
c.1778del (p.Pro593GlnfsTer?)
n.433del
c.1433del (p.Pro478GlnfsTer?)
c.*874del (n.*874del)
c.1574del (p.Pro525GlnfsTer?)
c.1601del (p.Pro534GlnfsTer?)
c.1640del (p.Pro547GlnfsTer?)
n.1582del
c.1766del (p.Pro589GlnfsTer?)
c.895del
c.867del
c.1424del (p.Pro475GlnfsTer?)
c.785del (p.Pro262GlnfsTer?)
c.1535del (p.Pro512GlnfsTer?)
c.125del (p.Pro42GlnfsTer?)
c.912del
c.1598del (p.Pro533GlnfsTer?)
n.896del
c.1850del (p.Pro617GlnfsTer?)
c.1844del (p.Pro615GlnfsTer?)
c.1832del (p.Pro611GlnfsTer?)
c.1787del (p.Pro596GlnfsTer?)
c.1784del (p.Pro595GlnfsTer?)
c.1721del (p.Pro574GlnfsTer?)
c.1583del (p.Pro528GlnfsTer?)
c.1478del (p.Pro493GlnfsTer?)
c.1808del (p.Pro603GlnfsTer?)
c.1805del (p.Pro602GlnfsTer?)
c.1742del (p.Pro581GlnfsTer?)
c.1697del (p.Pro566GlnfsTer?)
c.1493del (p.Pro498GlnfsTer?)
c.1793del (p.Pro598GlnfsTer?)
c.1544del (p.Pro515GlnfsTer?)
n.3859del
n.834del
5g.96762327C>ACA445511070CAST,ERAP1c.807C>A (p.Thr269=)
c.1737C>A (p.Thr579=)
c.1515C>A (p.Thr505=)
c.1344C>A (p.Thr448=)
c.1629C>A (p.Thr543=)
c.1821C>A (p.Thr607=)
c.1887C>A (p.Thr629=)
c.268C>A
c.1789C>A
c.*1511C>A (n.*1511C>A)
c.604C>A
c.1500C>A (p.Thr500=)
c.1557C>A (p.Thr519=)
c.1776C>A (p.Thr592=)
n.431C>A
c.1431C>A (p.Thr477=)
c.*873G>T (n.*873G>T)
c.1572C>A (p.Thr524=)
c.1599C>A (p.Thr533=)
c.1638C>A (p.Thr546=)
n.1580C>A
c.1764C>A (p.Thr588=)
c.893C>A
c.865C>A
c.1422C>A (p.Thr474=)
c.783C>A (p.Thr261=)
c.1533C>A (p.Thr511=)
c.123C>A (p.Thr41=)
c.910C>A
c.1596C>A (p.Thr532=)
n.894C>A
c.1848C>A (p.Thr616=)
c.1842C>A (p.Thr614=)
c.1830C>A (p.Thr610=)
c.1785C>A (p.Thr595=)
c.1782C>A (p.Thr594=)
c.1719C>A (p.Thr573=)
c.1581C>A (p.Thr527=)
c.1476C>A (p.Thr492=)
c.1806C>A (p.Thr602=)
c.1803C>A (p.Thr601=)
c.1740C>A (p.Thr580=)
c.1695C>A (p.Thr565=)
c.1491C>A (p.Thr497=)
c.1791C>A (p.Thr597=)
c.1542C>A (p.Thr514=)
n.3858G>T
n.832C>A
5g.96762327C>GCA445511071CAST,ERAP1c.807C>G (p.Thr269=)
c.1737C>G (p.Thr579=)
c.1515C>G (p.Thr505=)
c.1344C>G (p.Thr448=)
c.1629C>G (p.Thr543=)
c.1821C>G (p.Thr607=)
c.1887C>G (p.Thr629=)
c.268C>G
c.1789C>G
c.*1511C>G (n.*1511C>G)
c.604C>G
c.1500C>G (p.Thr500=)
c.1557C>G (p.Thr519=)
c.1776C>G (p.Thr592=)
n.431C>G
c.1431C>G (p.Thr477=)
c.*873G>C (n.*873G>C)
c.1572C>G (p.Thr524=)
c.1599C>G (p.Thr533=)
c.1638C>G (p.Thr546=)
n.1580C>G
c.1764C>G (p.Thr588=)
c.893C>G
c.865C>G
c.1422C>G (p.Thr474=)
c.783C>G (p.Thr261=)
c.1533C>G (p.Thr511=)
c.123C>G (p.Thr41=)
c.910C>G
c.1596C>G (p.Thr532=)
n.894C>G
c.1848C>G (p.Thr616=)
c.1842C>G (p.Thr614=)
c.1830C>G (p.Thr610=)
c.1785C>G (p.Thr595=)
c.1782C>G (p.Thr594=)
c.1719C>G (p.Thr573=)
c.1581C>G (p.Thr527=)
c.1476C>G (p.Thr492=)
c.1806C>G (p.Thr602=)
c.1803C>G (p.Thr601=)
c.1740C>G (p.Thr580=)
c.1695C>G (p.Thr565=)
c.1491C>G (p.Thr497=)
c.1791C>G (p.Thr597=)
c.1542C>G (p.Thr514=)
n.3858G>C
n.832C>G
5g.96762327C>TCA445511073CAST,ERAP1c.807C>T (p.Thr269=)
c.1737C>T (p.Thr579=)
c.1515C>T (p.Thr505=)
c.1344C>T (p.Thr448=)
c.1629C>T (p.Thr543=)
c.1821C>T (p.Thr607=)
c.1887C>T (p.Thr629=)
c.268C>T
c.1789C>T
c.*1511C>T (n.*1511C>T)
c.604C>T
c.1500C>T (p.Thr500=)
c.1557C>T (p.Thr519=)
c.1776C>T (p.Thr592=)
n.431C>T
c.1431C>T (p.Thr477=)
c.*873G>A (n.*873G>A)
c.1572C>T (p.Thr524=)
c.1599C>T (p.Thr533=)
c.1638C>T (p.Thr546=)
n.1580C>T
c.1764C>T (p.Thr588=)
c.893C>T
c.865C>T
c.1422C>T (p.Thr474=)
c.783C>T (p.Thr261=)
c.1533C>T (p.Thr511=)
c.123C>T (p.Thr41=)
c.910C>T
c.1596C>T (p.Thr532=)
n.894C>T
c.1848C>T (p.Thr616=)
c.1842C>T (p.Thr614=)
c.1830C>T (p.Thr610=)
c.1785C>T (p.Thr595=)
c.1782C>T (p.Thr594=)
c.1719C>T (p.Thr573=)
c.1581C>T (p.Thr527=)
c.1476C>T (p.Thr492=)
c.1806C>T (p.Thr602=)
c.1803C>T (p.Thr601=)
c.1740C>T (p.Thr580=)
c.1695C>T (p.Thr565=)
c.1491C>T (p.Thr497=)
c.1791C>T (p.Thr597=)
c.1542C>T (p.Thr514=)
n.3858G>A
n.832C>T
5g.96762328C>ACA360484971CAST,ERAP1c.808C>A (p.Pro270Thr)
c.1738C>A (p.Pro580Thr)
c.1516C>A (p.Pro506Thr)
c.1345C>A (p.Pro449Thr)
c.1630C>A (p.Pro544Thr)
c.1822C>A (p.Pro608Thr)
c.1888C>A (p.Pro630Thr)
c.269C>A
c.1790C>A
c.*1512C>A (n.*1512C>A)
c.605C>A
c.1501C>A (p.Pro501Thr)
c.1558C>A (p.Pro520Thr)
c.1777C>A (p.Pro593Thr)
n.432C>A
c.1432C>A (p.Pro478Thr)
c.*872G>T (n.*872G>T)
c.1573C>A (p.Pro525Thr)
c.1600C>A (p.Pro534Thr)
c.1639C>A (p.Pro547Thr)
n.1581C>A
c.1765C>A (p.Pro589Thr)
c.894C>A
c.866C>A
c.1423C>A (p.Pro475Thr)
c.784C>A (p.Pro262Thr)
c.1534C>A (p.Pro512Thr)
c.124C>A (p.Pro42Thr)
c.911C>A
c.1597C>A (p.Pro533Thr)
n.895C>A
c.1849C>A (p.Pro617Thr)
c.1843C>A (p.Pro615Thr)
c.1831C>A (p.Pro611Thr)
c.1786C>A (p.Pro596Thr)
c.1783C>A (p.Pro595Thr)
c.1720C>A (p.Pro574Thr)
c.1582C>A (p.Pro528Thr)
c.1477C>A (p.Pro493Thr)
c.1807C>A (p.Pro603Thr)
c.1804C>A (p.Pro602Thr)
c.1741C>A (p.Pro581Thr)
c.1696C>A (p.Pro566Thr)
c.1492C>A (p.Pro498Thr)
c.1792C>A (p.Pro598Thr)
c.1543C>A (p.Pro515Thr)
n.3857G>T
n.833C>A
5g.96762328C>GCA360484973CAST,ERAP1c.808C>G (p.Pro270Ala)
c.1738C>G (p.Pro580Ala)
c.1516C>G (p.Pro506Ala)
c.1345C>G (p.Pro449Ala)
c.1630C>G (p.Pro544Ala)
c.1822C>G (p.Pro608Ala)
c.1888C>G (p.Pro630Ala)
c.269C>G
c.1790C>G
c.*1512C>G (n.*1512C>G)
c.605C>G
c.1501C>G (p.Pro501Ala)
c.1558C>G (p.Pro520Ala)
c.1777C>G (p.Pro593Ala)
n.432C>G
c.1432C>G (p.Pro478Ala)
c.*872G>C (n.*872G>C)
c.1573C>G (p.Pro525Ala)
c.1600C>G (p.Pro534Ala)
c.1639C>G (p.Pro547Ala)
n.1581C>G
c.1765C>G (p.Pro589Ala)
c.894C>G
c.866C>G
c.1423C>G (p.Pro475Ala)
c.784C>G (p.Pro262Ala)
c.1534C>G (p.Pro512Ala)
c.124C>G (p.Pro42Ala)
c.911C>G
c.1597C>G (p.Pro533Ala)
n.895C>G
c.1849C>G (p.Pro617Ala)
c.1843C>G (p.Pro615Ala)
c.1831C>G (p.Pro611Ala)
c.1786C>G (p.Pro596Ala)
c.1783C>G (p.Pro595Ala)
c.1720C>G (p.Pro574Ala)
c.1582C>G (p.Pro528Ala)
c.1477C>G (p.Pro493Ala)
c.1807C>G (p.Pro603Ala)
c.1804C>G (p.Pro602Ala)
c.1741C>G (p.Pro581Ala)
c.1696C>G (p.Pro566Ala)
c.1492C>G (p.Pro498Ala)
c.1792C>G (p.Pro598Ala)
c.1543C>G (p.Pro515Ala)
n.3857G>C
n.833C>G
5g.96762328C>TCA360484972CAST,ERAP1c.808C>T (p.Pro270Ser)
c.1738C>T (p.Pro580Ser)
c.1516C>T (p.Pro506Ser)
c.1345C>T (p.Pro449Ser)
c.1630C>T (p.Pro544Ser)
c.1822C>T (p.Pro608Ser)
c.1888C>T (p.Pro630Ser)
c.269C>T
c.1790C>T
c.*1512C>T (n.*1512C>T)
c.605C>T
c.1501C>T (p.Pro501Ser)
c.1558C>T (p.Pro520Ser)
c.1777C>T (p.Pro593Ser)
n.432C>T
c.1432C>T (p.Pro478Ser)
c.*872G>A (n.*872G>A)
c.1573C>T (p.Pro525Ser)
c.1600C>T (p.Pro534Ser)
c.1639C>T (p.Pro547Ser)
n.1581C>T
c.1765C>T (p.Pro589Ser)
c.894C>T
c.866C>T
c.1423C>T (p.Pro475Ser)
c.784C>T (p.Pro262Ser)
c.1534C>T (p.Pro512Ser)
c.124C>T (p.Pro42Ser)
c.911C>T
c.1597C>T (p.Pro533Ser)
n.895C>T
c.1849C>T (p.Pro617Ser)
c.1843C>T (p.Pro615Ser)
c.1831C>T (p.Pro611Ser)
c.1786C>T (p.Pro596Ser)
c.1783C>T (p.Pro595Ser)
c.1720C>T (p.Pro574Ser)
c.1582C>T (p.Pro528Ser)
c.1477C>T (p.Pro493Ser)
c.1807C>T (p.Pro603Ser)
c.1804C>T (p.Pro602Ser)
c.1741C>T (p.Pro581Ser)
c.1696C>T (p.Pro566Ser)
c.1492C>T (p.Pro498Ser)
c.1792C>T (p.Pro598Ser)
c.1543C>T (p.Pro515Ser)
n.3857G>A
n.833C>T
5g.96762329C>ACA360484974CAST,ERAP1c.809C>A (p.Pro270Gln)
c.1739C>A (p.Pro580Gln)
c.1517C>A (p.Pro506Gln)
c.1346C>A (p.Pro449Gln)
c.1631C>A (p.Pro544Gln)
c.1823C>A (p.Pro608Gln)
c.1889C>A (p.Pro630Gln)
c.270C>A
c.1791C>A
c.*1513C>A (n.*1513C>A)
c.606C>A
c.1502C>A (p.Pro501Gln)
c.1559C>A (p.Pro520Gln)
c.1778C>A (p.Pro593Gln)
n.433C>A
c.1433C>A (p.Pro478Gln)
c.*871G>T (n.*871G>T)
c.1574C>A (p.Pro525Gln)
c.1601C>A (p.Pro534Gln)
c.1640C>A (p.Pro547Gln)
n.1582C>A
c.1766C>A (p.Pro589Gln)
c.895C>A
c.867C>A
c.1424C>A (p.Pro475Gln)
c.785C>A (p.Pro262Gln)
c.1535C>A (p.Pro512Gln)
c.125C>A (p.Pro42Gln)
c.912C>A
c.1598C>A (p.Pro533Gln)
n.896C>A
c.1850C>A (p.Pro617Gln)
c.1844C>A (p.Pro615Gln)
c.1832C>A (p.Pro611Gln)
c.1787C>A (p.Pro596Gln)
c.1784C>A (p.Pro595Gln)
c.1721C>A (p.Pro574Gln)
c.1583C>A (p.Pro528Gln)
c.1478C>A (p.Pro493Gln)
c.1808C>A (p.Pro603Gln)
c.1805C>A (p.Pro602Gln)
c.1742C>A (p.Pro581Gln)
c.1697C>A (p.Pro566Gln)
c.1493C>A (p.Pro498Gln)
c.1793C>A (p.Pro598Gln)
c.1544C>A (p.Pro515Gln)
n.3856G>T
n.834C>A
5g.96762329C>GCA360484975CAST,ERAP1c.809C>G (p.Pro270Arg)
c.1739C>G (p.Pro580Arg)
c.1517C>G (p.Pro506Arg)
c.1346C>G (p.Pro449Arg)
c.1631C>G (p.Pro544Arg)
c.1823C>G (p.Pro608Arg)
c.1889C>G (p.Pro630Arg)
c.270C>G
c.1791C>G
c.*1513C>G (n.*1513C>G)
c.606C>G
c.1502C>G (p.Pro501Arg)
c.1559C>G (p.Pro520Arg)
c.1778C>G (p.Pro593Arg)
n.433C>G
c.1433C>G (p.Pro478Arg)
c.*871G>C (n.*871G>C)
c.1574C>G (p.Pro525Arg)
c.1601C>G (p.Pro534Arg)
c.1640C>G (p.Pro547Arg)
n.1582C>G
c.1766C>G (p.Pro589Arg)
c.895C>G
c.867C>G
c.1424C>G (p.Pro475Arg)
c.785C>G (p.Pro262Arg)
c.1535C>G (p.Pro512Arg)
c.125C>G (p.Pro42Arg)
c.912C>G
c.1598C>G (p.Pro533Arg)
n.896C>G
c.1850C>G (p.Pro617Arg)
c.1844C>G (p.Pro615Arg)
c.1832C>G (p.Pro611Arg)
c.1787C>G (p.Pro596Arg)
c.1784C>G (p.Pro595Arg)
c.1721C>G (p.Pro574Arg)
c.1583C>G (p.Pro528Arg)
c.1478C>G (p.Pro493Arg)
c.1808C>G (p.Pro603Arg)
c.1805C>G (p.Pro602Arg)
c.1742C>G (p.Pro581Arg)
c.1697C>G (p.Pro566Arg)
c.1493C>G (p.Pro498Arg)
c.1793C>G (p.Pro598Arg)
c.1544C>G (p.Pro515Arg)
n.3856G>C
n.834C>G
5g.96762329C>TCA360484976CAST,ERAP1c.809C>T (p.Pro270Leu)
c.1739C>T (p.Pro580Leu)
c.1517C>T (p.Pro506Leu)
c.1346C>T (p.Pro449Leu)
c.1631C>T (p.Pro544Leu)
c.1823C>T (p.Pro608Leu)
c.1889C>T (p.Pro630Leu)
c.270C>T
c.1791C>T
c.*1513C>T (n.*1513C>T)
c.606C>T
c.1502C>T (p.Pro501Leu)
c.1559C>T (p.Pro520Leu)
c.1778C>T (p.Pro593Leu)
n.433C>T
c.1433C>T (p.Pro478Leu)
c.*871G>A (n.*871G>A)
c.1574C>T (p.Pro525Leu)
c.1601C>T (p.Pro534Leu)
c.1640C>T (p.Pro547Leu)
n.1582C>T
c.1766C>T (p.Pro589Leu)
c.895C>T
c.867C>T
c.1424C>T (p.Pro475Leu)
c.785C>T (p.Pro262Leu)
c.1535C>T (p.Pro512Leu)
c.125C>T (p.Pro42Leu)
c.912C>T
c.1598C>T (p.Pro533Leu)
n.896C>T
c.1850C>T (p.Pro617Leu)
c.1844C>T (p.Pro615Leu)
c.1832C>T (p.Pro611Leu)
c.1787C>T (p.Pro596Leu)
c.1784C>T (p.Pro595Leu)
c.1721C>T (p.Pro574Leu)
c.1583C>T (p.Pro528Leu)
c.1478C>T (p.Pro493Leu)
c.1808C>T (p.Pro603Leu)
c.1805C>T (p.Pro602Leu)
c.1742C>T (p.Pro581Leu)
c.1697C>T (p.Pro566Leu)
c.1493C>T (p.Pro498Leu)
c.1793C>T (p.Pro598Leu)
c.1544C>T (p.Pro515Leu)
n.3856G>A
n.834C>T
5g.96762330A>CCA445511074CAST,ERAP1c.810A>C (p.Pro270=)
c.1740A>C (p.Pro580=)
c.1518A>C (p.Pro506=)
c.1347A>C (p.Pro449=)
c.1632A>C (p.Pro544=)
c.1824A>C (p.Pro608=)
c.1890A>C (p.Pro630=)
c.271A>C
c.1792A>C
c.*1514A>C (n.*1514A>C)
c.607A>C
c.1503A>C (p.Pro501=)
c.1560A>C (p.Pro520=)
c.1779A>C (p.Pro593=)
n.434A>C
c.1434A>C (p.Pro478=)
c.*870T>G (n.*870T>G)
c.1575A>C (p.Pro525=)
c.1602A>C (p.Pro534=)
c.1641A>C (p.Pro547=)
n.1583A>C
c.1767A>C (p.Pro589=)
c.896A>C
c.868A>C
c.1425A>C (p.Pro475=)
c.786A>C (p.Pro262=)
c.1536A>C (p.Pro512=)
c.126A>C (p.Pro42=)
c.913A>C
c.1599A>C (p.Pro533=)
n.897A>C
c.1851A>C (p.Pro617=)
c.1845A>C (p.Pro615=)
c.1833A>C (p.Pro611=)
c.1788A>C (p.Pro596=)
c.1785A>C (p.Pro595=)
c.1722A>C (p.Pro574=)
c.1584A>C (p.Pro528=)
c.1479A>C (p.Pro493=)
c.1809A>C (p.Pro603=)
c.1806A>C (p.Pro602=)
c.1743A>C (p.Pro581=)
c.1698A>C (p.Pro566=)
c.1494A>C (p.Pro498=)
c.1794A>C (p.Pro598=)
c.1545A>C (p.Pro515=)
n.3855T>G
n.835A>C
5g.96762330A>GCA445511076CAST,ERAP1c.810A>G (p.Pro270=)
c.1740A>G (p.Pro580=)
c.1518A>G (p.Pro506=)
c.1347A>G (p.Pro449=)
c.1632A>G (p.Pro544=)
c.1824A>G (p.Pro608=)
c.1890A>G (p.Pro630=)
c.271A>G
c.1792A>G
c.*1514A>G (n.*1514A>G)
c.607A>G
c.1503A>G (p.Pro501=)
c.1560A>G (p.Pro520=)
c.1779A>G (p.Pro593=)
n.434A>G
c.1434A>G (p.Pro478=)
c.*870T>C (n.*870T>C)
c.1575A>G (p.Pro525=)
c.1602A>G (p.Pro534=)
c.1641A>G (p.Pro547=)
n.1583A>G
c.1767A>G (p.Pro589=)
c.896A>G
c.868A>G
c.1425A>G (p.Pro475=)
c.786A>G (p.Pro262=)
c.1536A>G (p.Pro512=)
c.126A>G (p.Pro42=)
c.913A>G
c.1599A>G (p.Pro533=)
n.897A>G
c.1851A>G (p.Pro617=)
c.1845A>G (p.Pro615=)
c.1833A>G (p.Pro611=)
c.1788A>G (p.Pro596=)
c.1785A>G (p.Pro595=)
c.1722A>G (p.Pro574=)
c.1584A>G (p.Pro528=)
c.1479A>G (p.Pro493=)
c.1809A>G (p.Pro603=)
c.1806A>G (p.Pro602=)
c.1743A>G (p.Pro581=)
c.1698A>G (p.Pro566=)
c.1494A>G (p.Pro498=)
c.1794A>G (p.Pro598=)
c.1545A>G (p.Pro515=)
n.3855T>C
n.835A>G
5g.96762330A>TCA445511077CAST,ERAP1c.810A>T (p.Pro270=)
c.1740A>T (p.Pro580=)
c.1518A>T (p.Pro506=)
c.1347A>T (p.Pro449=)
c.1632A>T (p.Pro544=)
c.1824A>T (p.Pro608=)
c.1890A>T (p.Pro630=)
c.271A>T
c.1792A>T
c.*1514A>T (n.*1514A>T)
c.607A>T
c.1503A>T (p.Pro501=)
c.1560A>T (p.Pro520=)
c.1779A>T (p.Pro593=)
n.434A>T
c.1434A>T (p.Pro478=)
c.*870T>A (n.*870T>A)
c.1575A>T (p.Pro525=)
c.1602A>T (p.Pro534=)
c.1641A>T (p.Pro547=)
n.1583A>T
c.1767A>T (p.Pro589=)
c.896A>T
c.868A>T
c.1425A>T (p.Pro475=)
c.786A>T (p.Pro262=)
c.1536A>T (p.Pro512=)
c.126A>T (p.Pro42=)
c.913A>T
c.1599A>T (p.Pro533=)
n.897A>T
c.1851A>T (p.Pro617=)
c.1845A>T (p.Pro615=)
c.1833A>T (p.Pro611=)
c.1788A>T (p.Pro596=)
c.1785A>T (p.Pro595=)
c.1722A>T (p.Pro574=)
c.1584A>T (p.Pro528=)
c.1479A>T (p.Pro493=)
c.1809A>T (p.Pro603=)
c.1806A>T (p.Pro602=)
c.1743A>T (p.Pro581=)
c.1698A>T (p.Pro566=)
c.1494A>T (p.Pro498=)
c.1794A>T (p.Pro598=)
c.1545A>T (p.Pro515=)
n.3855T>A
n.835A>T
5g.96762331G>ACA360484977CAST,ERAP1c.811G>A (p.Ala271Thr)
c.1741G>A (p.Ala581Thr)
c.1519G>A (p.Ala507Thr)
c.1348G>A (p.Ala450Thr)
c.1633G>A (p.Ala545Thr)
c.1825G>A (p.Ala609Thr)
c.1891G>A (p.Ala631Thr)
c.272G>A
c.1793G>A
c.*1515G>A (n.*1515G>A)
c.608G>A
c.1504G>A (p.Ala502Thr)
c.1561G>A (p.Ala521Thr)
c.1780G>A (p.Ala594Thr)
n.435G>A
c.1435G>A (p.Ala479Thr)
c.*869C>T (n.*869C>T)
c.1576G>A (p.Ala526Thr)
c.1603G>A (p.Ala535Thr)
c.1642G>A (p.Ala548Thr)
n.1584G>A
c.1768G>A (p.Ala590Thr)
c.897G>A
c.869G>A
c.1426G>A (p.Ala476Thr)
c.787G>A (p.Ala263Thr)
c.1537G>A (p.Ala513Thr)
c.127G>A (p.Ala43Thr)
c.914G>A
c.1600G>A (p.Ala534Thr)
n.898G>A
c.1852G>A (p.Ala618Thr)
c.1846G>A (p.Ala616Thr)
c.1834G>A (p.Ala612Thr)
c.1789G>A (p.Ala597Thr)
c.1786G>A (p.Ala596Thr)
c.1723G>A (p.Ala575Thr)
c.1585G>A (p.Ala529Thr)
c.1480G>A (p.Ala494Thr)
c.1810G>A (p.Ala604Thr)
c.1807G>A (p.Ala603Thr)
c.1744G>A (p.Ala582Thr)
c.1699G>A (p.Ala567Thr)
c.1495G>A (p.Ala499Thr)
c.1795G>A (p.Ala599Thr)
c.1546G>A (p.Ala516Thr)
n.3854C>T
n.836G>A
5g.96762331G>CCA3351510CAST,ERAP1c.811G>C (p.Ala271Pro)
c.1741G>C (p.Ala581Pro)
c.1519G>C (p.Ala507Pro)
c.1348G>C (p.Ala450Pro)
c.1633G>C (p.Ala545Pro)
c.1825G>C (p.Ala609Pro)
c.1891G>C (p.Ala631Pro)
c.272G>C
c.1793G>C
c.*1515G>C (n.*1515G>C)
c.608G>C
c.1504G>C (p.Ala502Pro)
c.1561G>C (p.Ala521Pro)
c.1780G>C (p.Ala594Pro)
n.435G>C
c.1435G>C (p.Ala479Pro)
c.*869C>G (n.*869C>G)
c.1576G>C (p.Ala526Pro)
c.1603G>C (p.Ala535Pro)
c.1642G>C (p.Ala548Pro)
n.1584G>C
c.1768G>C (p.Ala590Pro)
c.897G>C
c.869G>C
c.1426G>C (p.Ala476Pro)
c.787G>C (p.Ala263Pro)
c.1537G>C (p.Ala513Pro)
c.127G>C (p.Ala43Pro)
c.914G>C
c.1600G>C (p.Ala534Pro)
n.898G>C
c.1852G>C (p.Ala618Pro)
c.1846G>C (p.Ala616Pro)
c.1834G>C (p.Ala612Pro)
c.1789G>C (p.Ala597Pro)
c.1786G>C (p.Ala596Pro)
c.1723G>C (p.Ala575Pro)
c.1585G>C (p.Ala529Pro)
c.1480G>C (p.Ala494Pro)
c.1810G>C (p.Ala604Pro)
c.1807G>C (p.Ala603Pro)
c.1744G>C (p.Ala582Pro)
c.1699G>C (p.Ala567Pro)
c.1495G>C (p.Ala499Pro)
c.1795G>C (p.Ala599Pro)
c.1546G>C (p.Ala516Pro)
n.3854C>G
n.836G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.96762331G=CA1565569290CAST,ERAP1c.811G= (p.Ala271=)
c.1741G= (p.Ala581=)
c.1519G= (p.Ala507=)
c.1348G= (p.Ala450=)
c.1633G= (p.Ala545=)
c.1825G= (p.Ala609=)
c.1891G= (p.Ala631=)
c.272G=
c.1793G=
c.*1515G= (n.*1515G=)
c.608G=
c.1504G= (p.Ala502=)
c.1561G= (p.Ala521=)
c.1780G= (p.Ala594=)
n.435G=
c.1435G= (p.Ala479=)
c.*869C= (n.*869C=)
c.1576G= (p.Ala526=)
c.1603G= (p.Ala535=)
c.1642G= (p.Ala548=)
n.1584G=
c.1768G= (p.Ala590=)
c.897G=
c.869G=
c.1426G= (p.Ala476=)
c.787G= (p.Ala263=)
c.1537G= (p.Ala513=)
c.127G= (p.Ala43=)
c.914G=
c.1600G= (p.Ala534=)
n.898G=
c.1852G= (p.Ala618=)
c.1846G= (p.Ala616=)
c.1834G= (p.Ala612=)
c.1789G= (p.Ala597=)
c.1786G= (p.Ala596=)
c.1723G= (p.Ala575=)
c.1585G= (p.Ala529=)
c.1480G= (p.Ala494=)
c.1810G= (p.Ala604=)
c.1807G= (p.Ala603=)
c.1744G= (p.Ala582=)
c.1699G= (p.Ala567=)
c.1495G= (p.Ala499=)
c.1795G= (p.Ala599=)
c.1546G= (p.Ala516=)
n.3854C=
n.836G=
5g.96762331G>TCA360484978CAST,ERAP1c.811G>T (p.Ala271Ser)
c.1741G>T (p.Ala581Ser)
c.1519G>T (p.Ala507Ser)
c.1348G>T (p.Ala450Ser)
c.1633G>T (p.Ala545Ser)
c.1825G>T (p.Ala609Ser)
c.1891G>T (p.Ala631Ser)
c.272G>T
c.1793G>T
c.*1515G>T (n.*1515G>T)
c.608G>T
c.1504G>T (p.Ala502Ser)
c.1561G>T (p.Ala521Ser)
c.1780G>T (p.Ala594Ser)
n.435G>T
c.1435G>T (p.Ala479Ser)
c.*869C>A (n.*869C>A)
c.1576G>T (p.Ala526Ser)
c.1603G>T (p.Ala535Ser)
c.1642G>T (p.Ala548Ser)
n.1584G>T
c.1768G>T (p.Ala590Ser)
c.897G>T
c.869G>T
c.1426G>T (p.Ala476Ser)
c.787G>T (p.Ala263Ser)
c.1537G>T (p.Ala513Ser)
c.127G>T (p.Ala43Ser)
c.914G>T
c.1600G>T (p.Ala534Ser)
n.898G>T
c.1852G>T (p.Ala618Ser)
c.1846G>T (p.Ala616Ser)
c.1834G>T (p.Ala612Ser)
c.1789G>T (p.Ala597Ser)
c.1786G>T (p.Ala596Ser)
c.1723G>T (p.Ala575Ser)
c.1585G>T (p.Ala529Ser)
c.1480G>T (p.Ala494Ser)
c.1810G>T (p.Ala604Ser)
c.1807G>T (p.Ala603Ser)
c.1744G>T (p.Ala582Ser)
c.1699G>T (p.Ala567Ser)
c.1495G>T (p.Ala499Ser)
c.1795G>T (p.Ala599Ser)
c.1546G>T (p.Ala516Ser)
n.3854C>A
n.836G>T
5g.96762332C>ACA360484979CAST,ERAP1c.812C>A (p.Ala271Asp)
c.1742C>A (p.Ala581Asp)
c.1520C>A (p.Ala507Asp)
c.1349C>A (p.Ala450Asp)
c.1634C>A (p.Ala545Asp)
c.1826C>A (p.Ala609Asp)
c.1892C>A (p.Ala631Asp)
c.273C>A
c.1794C>A
c.*1516C>A (n.*1516C>A)
c.609C>A
c.1505C>A (p.Ala502Asp)
c.1562C>A (p.Ala521Asp)
c.1781C>A (p.Ala594Asp)
n.436C>A
c.1436C>A (p.Ala479Asp)
c.*868G>T (n.*868G>T)
c.1577C>A (p.Ala526Asp)
c.1604C>A (p.Ala535Asp)
c.1643C>A (p.Ala548Asp)
n.1585C>A
c.1769C>A (p.Ala590Asp)
c.898C>A
c.870C>A
c.1427C>A (p.Ala476Asp)
c.788C>A (p.Ala263Asp)
c.1538C>A (p.Ala513Asp)
c.128C>A (p.Ala43Asp)
c.915C>A
c.1601C>A (p.Ala534Asp)
n.899C>A
c.1853C>A (p.Ala618Asp)
c.1847C>A (p.Ala616Asp)
c.1835C>A (p.Ala612Asp)
c.1790C>A (p.Ala597Asp)
c.1787C>A (p.Ala596Asp)
c.1724C>A (p.Ala575Asp)
c.1586C>A (p.Ala529Asp)
c.1481C>A (p.Ala494Asp)
c.1811C>A (p.Ala604Asp)
c.1808C>A (p.Ala603Asp)
c.1745C>A (p.Ala582Asp)
c.1700C>A (p.Ala567Asp)
c.1496C>A (p.Ala499Asp)
c.1796C>A (p.Ala599Asp)
c.1547C>A (p.Ala516Asp)
n.3853G>T
n.837C>A
5g.96762332C>GCA360484980CAST,ERAP1c.812C>G (p.Ala271Gly)
c.1742C>G (p.Ala581Gly)
c.1520C>G (p.Ala507Gly)
c.1349C>G (p.Ala450Gly)
c.1634C>G (p.Ala545Gly)
c.1826C>G (p.Ala609Gly)
c.1892C>G (p.Ala631Gly)
c.273C>G
c.1794C>G
c.*1516C>G (n.*1516C>G)
c.609C>G
c.1505C>G (p.Ala502Gly)
c.1562C>G (p.Ala521Gly)
c.1781C>G (p.Ala594Gly)
n.436C>G
c.1436C>G (p.Ala479Gly)
c.*868G>C (n.*868G>C)
c.1577C>G (p.Ala526Gly)
c.1604C>G (p.Ala535Gly)
c.1643C>G (p.Ala548Gly)
n.1585C>G
c.1769C>G (p.Ala590Gly)
c.898C>G
c.870C>G
c.1427C>G (p.Ala476Gly)
c.788C>G (p.Ala263Gly)
c.1538C>G (p.Ala513Gly)
c.128C>G (p.Ala43Gly)
c.915C>G
c.1601C>G (p.Ala534Gly)
n.899C>G
c.1853C>G (p.Ala618Gly)
c.1847C>G (p.Ala616Gly)
c.1835C>G (p.Ala612Gly)
c.1790C>G (p.Ala597Gly)
c.1787C>G (p.Ala596Gly)
c.1724C>G (p.Ala575Gly)
c.1586C>G (p.Ala529Gly)
c.1481C>G (p.Ala494Gly)
c.1811C>G (p.Ala604Gly)
c.1808C>G (p.Ala603Gly)
c.1745C>G (p.Ala582Gly)
c.1700C>G (p.Ala567Gly)
c.1496C>G (p.Ala499Gly)
c.1796C>G (p.Ala599Gly)
c.1547C>G (p.Ala516Gly)
n.3853G>C
n.837C>G
5g.96762332C>TCA360484981CAST,ERAP1c.812C>T (p.Ala271Val)
c.1742C>T (p.Ala581Val)
c.1520C>T (p.Ala507Val)
c.1349C>T (p.Ala450Val)
c.1634C>T (p.Ala545Val)
c.1826C>T (p.Ala609Val)
c.1892C>T (p.Ala631Val)
c.273C>T
c.1794C>T
c.*1516C>T (n.*1516C>T)
c.609C>T
c.1505C>T (p.Ala502Val)
c.1562C>T (p.Ala521Val)
c.1781C>T (p.Ala594Val)
n.436C>T
c.1436C>T (p.Ala479Val)
c.*868G>A (n.*868G>A)
c.1577C>T (p.Ala526Val)
c.1604C>T (p.Ala535Val)
c.1643C>T (p.Ala548Val)
n.1585C>T
c.1769C>T (p.Ala590Val)
c.898C>T
c.870C>T
c.1427C>T (p.Ala476Val)
c.788C>T (p.Ala263Val)
c.1538C>T (p.Ala513Val)
c.128C>T (p.Ala43Val)
c.915C>T
c.1601C>T (p.Ala534Val)
n.899C>T
c.1853C>T (p.Ala618Val)
c.1847C>T (p.Ala616Val)
c.1835C>T (p.Ala612Val)
c.1790C>T (p.Ala597Val)
c.1787C>T (p.Ala596Val)
c.1724C>T (p.Ala575Val)
c.1586C>T (p.Ala529Val)
c.1481C>T (p.Ala494Val)
c.1811C>T (p.Ala604Val)
c.1808C>T (p.Ala603Val)
c.1745C>T (p.Ala582Val)
c.1700C>T (p.Ala567Val)
c.1496C>T (p.Ala499Val)
c.1796C>T (p.Ala599Val)
c.1547C>T (p.Ala516Val)
n.3853G>A
n.837C>T
5g.96762333T>ACA445511083CAST,ERAP1c.813T>A (p.Ala271=)
c.1743T>A (p.Ala581=)
c.1521T>A (p.Ala507=)
c.1350T>A (p.Ala450=)
c.1635T>A (p.Ala545=)
c.1827T>A (p.Ala609=)
c.1893T>A (p.Ala631=)
c.274T>A
c.1795T>A
c.*1517T>A (n.*1517T>A)
c.610T>A
c.1506T>A (p.Ala502=)
c.1563T>A (p.Ala521=)
c.1782T>A (p.Ala594=)
n.437T>A
c.1437T>A (p.Ala479=)
c.*867A>T (n.*867A>T)
c.1578T>A (p.Ala526=)
c.1605T>A (p.Ala535=)
c.1644T>A (p.Ala548=)
n.1586T>A
c.1770T>A (p.Ala590=)
c.899T>A
c.871T>A
c.1428T>A (p.Ala476=)
c.789T>A (p.Ala263=)
c.1539T>A (p.Ala513=)
c.129T>A (p.Ala43=)
c.916T>A
c.1602T>A (p.Ala534=)
n.900T>A
c.1854T>A (p.Ala618=)
c.1848T>A (p.Ala616=)
c.1836T>A (p.Ala612=)
c.1791T>A (p.Ala597=)
c.1788T>A (p.Ala596=)
c.1725T>A (p.Ala575=)
c.1587T>A (p.Ala529=)
c.1482T>A (p.Ala494=)
c.1812T>A (p.Ala604=)
c.1809T>A (p.Ala603=)
c.1746T>A (p.Ala582=)
c.1701T>A (p.Ala567=)
c.1497T>A (p.Ala499=)
c.1797T>A (p.Ala599=)
c.1548T>A (p.Ala516=)
n.3852A>T
n.838T>A
5g.96762333T>CCA445511081CAST,ERAP1c.813T>C (p.Ala271=)
c.1743T>C (p.Ala581=)
c.1521T>C (p.Ala507=)
c.1350T>C (p.Ala450=)
c.1635T>C (p.Ala545=)
c.1827T>C (p.Ala609=)
c.1893T>C (p.Ala631=)
c.274T>C
c.1795T>C
c.*1517T>C (n.*1517T>C)
c.610T>C
c.1506T>C (p.Ala502=)
c.1563T>C (p.Ala521=)
c.1782T>C (p.Ala594=)
n.437T>C
c.1437T>C (p.Ala479=)
c.*867A>G (n.*867A>G)
c.1578T>C (p.Ala526=)
c.1605T>C (p.Ala535=)
c.1644T>C (p.Ala548=)
n.1586T>C
c.1770T>C (p.Ala590=)
c.899T>C
c.871T>C
c.1428T>C (p.Ala476=)
c.789T>C (p.Ala263=)
c.1539T>C (p.Ala513=)
c.129T>C (p.Ala43=)
c.916T>C
c.1602T>C (p.Ala534=)
n.900T>C
c.1854T>C (p.Ala618=)
c.1848T>C (p.Ala616=)
c.1836T>C (p.Ala612=)
c.1791T>C (p.Ala597=)
c.1788T>C (p.Ala596=)
c.1725T>C (p.Ala575=)
c.1587T>C (p.Ala529=)
c.1482T>C (p.Ala494=)
c.1812T>C (p.Ala604=)
c.1809T>C (p.Ala603=)
c.1746T>C (p.Ala582=)
c.1701T>C (p.Ala567=)
c.1497T>C (p.Ala499=)
c.1797T>C (p.Ala599=)
c.1548T>C (p.Ala516=)
n.3852A>G
n.838T>C
5g.96762333T>GCA445511079CAST,ERAP1c.813T>G (p.Ala271=)
c.1743T>G (p.Ala581=)
c.1521T>G (p.Ala507=)
c.1350T>G (p.Ala450=)
c.1635T>G (p.Ala545=)
c.1827T>G (p.Ala609=)
c.1893T>G (p.Ala631=)
c.274T>G
c.1795T>G
c.*1517T>G (n.*1517T>G)
c.610T>G
c.1506T>G (p.Ala502=)
c.1563T>G (p.Ala521=)
c.1782T>G (p.Ala594=)
n.437T>G
c.1437T>G (p.Ala479=)
c.*867A>C (n.*867A>C)
c.1578T>G (p.Ala526=)
c.1605T>G (p.Ala535=)
c.1644T>G (p.Ala548=)
n.1586T>G
c.1770T>G (p.Ala590=)
c.899T>G
c.871T>G
c.1428T>G (p.Ala476=)
c.789T>G (p.Ala263=)
c.1539T>G (p.Ala513=)
c.129T>G (p.Ala43=)
c.916T>G
c.1602T>G (p.Ala534=)
n.900T>G
c.1854T>G (p.Ala618=)
c.1848T>G (p.Ala616=)
c.1836T>G (p.Ala612=)
c.1791T>G (p.Ala597=)
c.1788T>G (p.Ala596=)
c.1725T>G (p.Ala575=)
c.1587T>G (p.Ala529=)
c.1482T>G (p.Ala494=)
c.1812T>G (p.Ala604=)
c.1809T>G (p.Ala603=)
c.1746T>G (p.Ala582=)
c.1701T>G (p.Ala567=)
c.1497T>G (p.Ala499=)
c.1797T>G (p.Ala599=)
c.1548T>G (p.Ala516=)
n.3852A>C
n.838T>G
5g.96762334T>ACA360484982CAST,ERAP1c.814T>A (p.Ser272Thr)
c.1744T>A (p.Ser582Thr)
c.1522T>A (p.Ser508Thr)
c.1351T>A (p.Ser451Thr)
c.1636T>A (p.Ser546Thr)
c.1828T>A (p.Ser610Thr)
c.1894T>A (p.Ser632Thr)
c.275T>A
c.1796T>A
c.*1518T>A (n.*1518T>A)
c.611T>A
c.1507T>A (p.Ser503Thr)
c.1564T>A (p.Ser522Thr)
c.1783T>A (p.Ser595Thr)
n.438T>A
c.1438T>A (p.Ser480Thr)
c.*866A>T (n.*866A>T)
c.1579T>A (p.Ser527Thr)
c.1606T>A (p.Ser536Thr)
c.1645T>A (p.Ser549Thr)
n.1587T>A
c.1771T>A (p.Ser591Thr)
c.900T>A
c.872T>A
c.1429T>A (p.Ser477Thr)
c.790T>A (p.Ser264Thr)
c.1540T>A (p.Ser514Thr)
c.130T>A (p.Ser44Thr)
c.917T>A
c.1603T>A (p.Ser535Thr)
n.901T>A
c.1855T>A (p.Ser619Thr)
c.1849T>A (p.Ser617Thr)
c.1837T>A (p.Ser613Thr)
c.1792T>A (p.Ser598Thr)
c.1789T>A (p.Ser597Thr)
c.1726T>A (p.Ser576Thr)
c.1588T>A (p.Ser530Thr)
c.1483T>A (p.Ser495Thr)
c.1813T>A (p.Ser605Thr)
c.1810T>A (p.Ser604Thr)
c.1747T>A (p.Ser583Thr)
c.1702T>A (p.Ser568Thr)
c.1498T>A (p.Ser500Thr)
c.1798T>A (p.Ser600Thr)
c.1549T>A (p.Ser517Thr)
n.3851A>T
n.839T>A
5g.96762334T>CCA360484983CAST,ERAP1c.814T>C (p.Ser272Pro)
c.1744T>C (p.Ser582Pro)
c.1522T>C (p.Ser508Pro)
c.1351T>C (p.Ser451Pro)
c.1636T>C (p.Ser546Pro)
c.1828T>C (p.Ser610Pro)
c.1894T>C (p.Ser632Pro)
c.275T>C
c.1796T>C
c.*1518T>C (n.*1518T>C)
c.611T>C
c.1507T>C (p.Ser503Pro)
c.1564T>C (p.Ser522Pro)
c.1783T>C (p.Ser595Pro)
n.438T>C
c.1438T>C (p.Ser480Pro)
c.*866A>G (n.*866A>G)
c.1579T>C (p.Ser527Pro)
c.1606T>C (p.Ser536Pro)
c.1645T>C (p.Ser549Pro)
n.1587T>C
c.1771T>C (p.Ser591Pro)
c.900T>C
c.872T>C
c.1429T>C (p.Ser477Pro)
c.790T>C (p.Ser264Pro)
c.1540T>C (p.Ser514Pro)
c.130T>C (p.Ser44Pro)
c.917T>C
c.1603T>C (p.Ser535Pro)
n.901T>C
c.1855T>C (p.Ser619Pro)
c.1849T>C (p.Ser617Pro)
c.1837T>C (p.Ser613Pro)
c.1792T>C (p.Ser598Pro)
c.1789T>C (p.Ser597Pro)
c.1726T>C (p.Ser576Pro)
c.1588T>C (p.Ser530Pro)
c.1483T>C (p.Ser495Pro)
c.1813T>C (p.Ser605Pro)
c.1810T>C (p.Ser604Pro)
c.1747T>C (p.Ser583Pro)
c.1702T>C (p.Ser568Pro)
c.1498T>C (p.Ser500Pro)
c.1798T>C (p.Ser600Pro)
c.1549T>C (p.Ser517Pro)
n.3851A>G
n.839T>C
5g.96762334T>GCA360484984CAST,ERAP1c.814T>G (p.Ser272Ala)
c.1744T>G (p.Ser582Ala)
c.1522T>G (p.Ser508Ala)
c.1351T>G (p.Ser451Ala)
c.1636T>G (p.Ser546Ala)
c.1828T>G (p.Ser610Ala)
c.1894T>G (p.Ser632Ala)
c.275T>G
c.1796T>G
c.*1518T>G (n.*1518T>G)
c.611T>G
c.1507T>G (p.Ser503Ala)
c.1564T>G (p.Ser522Ala)
c.1783T>G (p.Ser595Ala)
n.438T>G
c.1438T>G (p.Ser480Ala)
c.*866A>C (n.*866A>C)
c.1579T>G (p.Ser527Ala)
c.1606T>G (p.Ser536Ala)
c.1645T>G (p.Ser549Ala)
n.1587T>G
c.1771T>G (p.Ser591Ala)
c.900T>G
c.872T>G
c.1429T>G (p.Ser477Ala)
c.790T>G (p.Ser264Ala)
c.1540T>G (p.Ser514Ala)
c.130T>G (p.Ser44Ala)
c.917T>G
c.1603T>G (p.Ser535Ala)
n.901T>G
c.1855T>G (p.Ser619Ala)
c.1849T>G (p.Ser617Ala)
c.1837T>G (p.Ser613Ala)
c.1792T>G (p.Ser598Ala)
c.1789T>G (p.Ser597Ala)
c.1726T>G (p.Ser576Ala)
c.1588T>G (p.Ser530Ala)
c.1483T>G (p.Ser495Ala)
c.1813T>G (p.Ser605Ala)
c.1810T>G (p.Ser604Ala)
c.1747T>G (p.Ser583Ala)
c.1702T>G (p.Ser568Ala)
c.1498T>G (p.Ser500Ala)
c.1798T>G (p.Ser600Ala)
c.1549T>G (p.Ser517Ala)
n.3851A>C
n.839T>G
5g.96762335C>ACA360484987CAST,ERAP1c.815C>A (p.Ser272Ter)
c.1745C>A (p.Ser582Ter)
c.1523C>A (p.Ser508Ter)
c.1352C>A (p.Ser451Ter)
c.1637C>A (p.Ser546Ter)
c.1829C>A (p.Ser610Ter)
c.1895C>A (p.Ser632Ter)
c.276C>A
c.1797C>A
c.*1519C>A (n.*1519C>A)
c.612C>A
c.1508C>A (p.Ser503Ter)
c.1565C>A (p.Ser522Ter)
c.1784C>A (p.Ser595Ter)
n.439C>A
c.1439C>A (p.Ser480Ter)
c.*865G>T (n.*865G>T)
c.1580C>A (p.Ser527Ter)
c.1607C>A (p.Ser536Ter)
c.1646C>A (p.Ser549Ter)
n.1588C>A
c.1772C>A (p.Ser591Ter)
c.901C>A
c.873C>A
c.1430C>A (p.Ser477Ter)
c.791C>A (p.Ser264Ter)
c.1541C>A (p.Ser514Ter)
c.131C>A (p.Ser44Ter)
c.918C>A
c.1604C>A (p.Ser535Ter)
n.902C>A
c.1856C>A (p.Ser619Ter)
c.1850C>A (p.Ser617Ter)
c.1838C>A (p.Ser613Ter)
c.1793C>A (p.Ser598Ter)
c.1790C>A (p.Ser597Ter)
c.1727C>A (p.Ser576Ter)
c.1589C>A (p.Ser530Ter)
c.1484C>A (p.Ser495Ter)
c.1814C>A (p.Ser605Ter)
c.1811C>A (p.Ser604Ter)
c.1748C>A (p.Ser583Ter)
c.1703C>A (p.Ser568Ter)
c.1499C>A (p.Ser500Ter)
c.1799C>A (p.Ser600Ter)
c.1550C>A (p.Ser517Ter)
n.3850G>T
n.840C>A
5g.96762335C=CA1565569291CAST,ERAP1c.815C= (p.Ser272=)
c.1745C= (p.Ser582=)
c.1523C= (p.Ser508=)
c.1352C= (p.Ser451=)
c.1637C= (p.Ser546=)
c.1829C= (p.Ser610=)
c.1895C= (p.Ser632=)
c.276C=
c.1797C=
c.*1519C= (n.*1519C=)
c.612C=
c.1508C= (p.Ser503=)
c.1565C= (p.Ser522=)
c.1784C= (p.Ser595=)
n.439C=
c.1439C= (p.Ser480=)
c.*865G= (n.*865G=)
c.1580C= (p.Ser527=)
c.1607C= (p.Ser536=)
c.1646C= (p.Ser549=)
n.1588C=
c.1772C= (p.Ser591=)
c.901C=
c.873C=
c.1430C= (p.Ser477=)
c.791C= (p.Ser264=)
c.1541C= (p.Ser514=)
c.131C= (p.Ser44=)
c.918C=
c.1604C= (p.Ser535=)
n.902C=
c.1856C= (p.Ser619=)
c.1850C= (p.Ser617=)
c.1838C= (p.Ser613=)
c.1793C= (p.Ser598=)
c.1790C= (p.Ser597=)
c.1727C= (p.Ser576=)
c.1589C= (p.Ser530=)
c.1484C= (p.Ser495=)
c.1814C= (p.Ser605=)
c.1811C= (p.Ser604=)
c.1748C= (p.Ser583=)
c.1703C= (p.Ser568=)
c.1499C= (p.Ser500=)
c.1799C= (p.Ser600=)
c.1550C= (p.Ser517=)
n.3850G=
n.840C=
5g.96762335C>GCA360484985CAST,ERAP1c.815C>G (p.Ser272Ter)
c.1745C>G (p.Ser582Ter)
c.1523C>G (p.Ser508Ter)
c.1352C>G (p.Ser451Ter)
c.1637C>G (p.Ser546Ter)
c.1829C>G (p.Ser610Ter)
c.1895C>G (p.Ser632Ter)
c.276C>G
c.1797C>G
c.*1519C>G (n.*1519C>G)
c.612C>G
c.1508C>G (p.Ser503Ter)
c.1565C>G (p.Ser522Ter)
c.1784C>G (p.Ser595Ter)
n.439C>G
c.1439C>G (p.Ser480Ter)
c.*865G>C (n.*865G>C)
c.1580C>G (p.Ser527Ter)
c.1607C>G (p.Ser536Ter)
c.1646C>G (p.Ser549Ter)
n.1588C>G
c.1772C>G (p.Ser591Ter)
c.901C>G
c.873C>G
c.1430C>G (p.Ser477Ter)
c.791C>G (p.Ser264Ter)
c.1541C>G (p.Ser514Ter)
c.131C>G (p.Ser44Ter)
c.918C>G
c.1604C>G (p.Ser535Ter)
n.902C>G
c.1856C>G (p.Ser619Ter)
c.1850C>G (p.Ser617Ter)
c.1838C>G (p.Ser613Ter)
c.1793C>G (p.Ser598Ter)
c.1790C>G (p.Ser597Ter)
c.1727C>G (p.Ser576Ter)
c.1589C>G (p.Ser530Ter)
c.1484C>G (p.Ser495Ter)
c.1814C>G (p.Ser605Ter)
c.1811C>G (p.Ser604Ter)
c.1748C>G (p.Ser583Ter)
c.1703C>G (p.Ser568Ter)
c.1499C>G (p.Ser500Ter)
c.1799C>G (p.Ser600Ter)
c.1550C>G (p.Ser517Ter)
n.3850G>C
n.840C>G
 dbSNP gnomAD v4
5g.96762335C>TCA360484986CAST,ERAP1c.815C>T (p.Ser272Leu)
c.1745C>T (p.Ser582Leu)
c.1523C>T (p.Ser508Leu)
c.1352C>T (p.Ser451Leu)
c.1637C>T (p.Ser546Leu)
c.1829C>T (p.Ser610Leu)
c.1895C>T (p.Ser632Leu)
c.276C>T
c.1797C>T
c.*1519C>T (n.*1519C>T)
c.612C>T
c.1508C>T (p.Ser503Leu)
c.1565C>T (p.Ser522Leu)
c.1784C>T (p.Ser595Leu)
n.439C>T
c.1439C>T (p.Ser480Leu)
c.*865G>A (n.*865G>A)
c.1580C>T (p.Ser527Leu)
c.1607C>T (p.Ser536Leu)
c.1646C>T (p.Ser549Leu)
n.1588C>T
c.1772C>T (p.Ser591Leu)
c.901C>T
c.873C>T
c.1430C>T (p.Ser477Leu)
c.791C>T (p.Ser264Leu)
c.1541C>T (p.Ser514Leu)
c.131C>T (p.Ser44Leu)
c.918C>T
c.1604C>T (p.Ser535Leu)
n.902C>T
c.1856C>T (p.Ser619Leu)
c.1850C>T (p.Ser617Leu)
c.1838C>T (p.Ser613Leu)
c.1793C>T (p.Ser598Leu)
c.1790C>T (p.Ser597Leu)
c.1727C>T (p.Ser576Leu)
c.1589C>T (p.Ser530Leu)
c.1484C>T (p.Ser495Leu)
c.1814C>T (p.Ser605Leu)
c.1811C>T (p.Ser604Leu)
c.1748C>T (p.Ser583Leu)
c.1703C>T (p.Ser568Leu)
c.1499C>T (p.Ser500Leu)
c.1799C>T (p.Ser600Leu)
c.1550C>T (p.Ser517Leu)
n.3850G>A
n.840C>T
5g.96762336A>CCA445511085CAST,ERAP1c.816A>C (p.Ser272=)
c.1746A>C (p.Ser582=)
c.1524A>C (p.Ser508=)
c.1353A>C (p.Ser451=)
c.1638A>C (p.Ser546=)
c.1830A>C (p.Ser610=)
c.1896A>C (p.Ser632=)
c.277A>C
c.1798A>C
c.*1520A>C (n.*1520A>C)
c.613A>C
c.1509A>C (p.Ser503=)
c.1566A>C (p.Ser522=)
c.1785A>C (p.Ser595=)
n.440A>C
c.1440A>C (p.Ser480=)
c.*864T>G (n.*864T>G)
c.1581A>C (p.Ser527=)
c.1608A>C (p.Ser536=)
c.1647A>C (p.Ser549=)
n.1589A>C
c.1773A>C (p.Ser591=)
c.902A>C
c.874A>C
c.1431A>C (p.Ser477=)
c.792A>C (p.Ser264=)
c.1542A>C (p.Ser514=)
c.132A>C (p.Ser44=)
c.919A>C
c.1605A>C (p.Ser535=)
n.903A>C
c.1857A>C (p.Ser619=)
c.1851A>C (p.Ser617=)
c.1839A>C (p.Ser613=)
c.1794A>C (p.Ser598=)
c.1791A>C (p.Ser597=)
c.1728A>C (p.Ser576=)
c.1590A>C (p.Ser530=)
c.1485A>C (p.Ser495=)
c.1815A>C (p.Ser605=)
c.1812A>C (p.Ser604=)
c.1749A>C (p.Ser583=)
c.1704A>C (p.Ser568=)
c.1500A>C (p.Ser500=)
c.1800A>C (p.Ser600=)
c.1551A>C (p.Ser517=)
n.3849T>G
n.841A>C
 gnomAD v4
5g.96762336A>GCA445511086CAST,ERAP1c.816A>G (p.Ser272=)
c.1746A>G (p.Ser582=)
c.1524A>G (p.Ser508=)
c.1353A>G (p.Ser451=)
c.1638A>G (p.Ser546=)
c.1830A>G (p.Ser610=)
c.1896A>G (p.Ser632=)
c.277A>G
c.1798A>G
c.*1520A>G (n.*1520A>G)
c.613A>G
c.1509A>G (p.Ser503=)
c.1566A>G (p.Ser522=)
c.1785A>G (p.Ser595=)
n.440A>G
c.1440A>G (p.Ser480=)
c.*864T>C (n.*864T>C)
c.1581A>G (p.Ser527=)
c.1608A>G (p.Ser536=)
c.1647A>G (p.Ser549=)
n.1589A>G
c.1773A>G (p.Ser591=)
c.902A>G
c.874A>G
c.1431A>G (p.Ser477=)
c.792A>G (p.Ser264=)
c.1542A>G (p.Ser514=)
c.132A>G (p.Ser44=)
c.919A>G
c.1605A>G (p.Ser535=)
n.903A>G
c.1857A>G (p.Ser619=)
c.1851A>G (p.Ser617=)
c.1839A>G (p.Ser613=)
c.1794A>G (p.Ser598=)
c.1791A>G (p.Ser597=)
c.1728A>G (p.Ser576=)
c.1590A>G (p.Ser530=)
c.1485A>G (p.Ser495=)
c.1815A>G (p.Ser605=)
c.1812A>G (p.Ser604=)
c.1749A>G (p.Ser583=)
c.1704A>G (p.Ser568=)
c.1500A>G (p.Ser500=)
c.1800A>G (p.Ser600=)
c.1551A>G (p.Ser517=)
n.3849T>C
n.841A>G
5g.96762336A>TCA445511087CAST,ERAP1c.816A>T (p.Ser272=)
c.1746A>T (p.Ser582=)
c.1524A>T (p.Ser508=)
c.1353A>T (p.Ser451=)
c.1638A>T (p.Ser546=)
c.1830A>T (p.Ser610=)
c.1896A>T (p.Ser632=)
c.277A>T
c.1798A>T
c.*1520A>T (n.*1520A>T)
c.613A>T
c.1509A>T (p.Ser503=)
c.1566A>T (p.Ser522=)
c.1785A>T (p.Ser595=)
n.440A>T
c.1440A>T (p.Ser480=)
c.*864T>A (n.*864T>A)
c.1581A>T (p.Ser527=)
c.1608A>T (p.Ser536=)
c.1647A>T (p.Ser549=)
n.1589A>T
c.1773A>T (p.Ser591=)
c.902A>T
c.874A>T
c.1431A>T (p.Ser477=)
c.792A>T (p.Ser264=)
c.1542A>T (p.Ser514=)
c.132A>T (p.Ser44=)
c.919A>T
c.1605A>T (p.Ser535=)
n.903A>T
c.1857A>T (p.Ser619=)
c.1851A>T (p.Ser617=)
c.1839A>T (p.Ser613=)
c.1794A>T (p.Ser598=)
c.1791A>T (p.Ser597=)
c.1728A>T (p.Ser576=)
c.1590A>T (p.Ser530=)
c.1485A>T (p.Ser495=)
c.1815A>T (p.Ser605=)
c.1812A>T (p.Ser604=)
c.1749A>T (p.Ser583=)
c.1704A>T (p.Ser568=)
c.1500A>T (p.Ser500=)
c.1800A>T (p.Ser600=)
c.1551A>T (p.Ser517=)
n.3849T>A
n.841A>T
5g.96762337A=CA1565569292CAST,ERAP1c.817A= (p.Thr273=)
c.1747A= (p.Thr583=)
c.1525A= (p.Thr509=)
c.1354A= (p.Thr452=)
c.1639A= (p.Thr547=)
c.1831A= (p.Thr611=)
c.1897A= (p.Thr633=)
c.278A=
c.1799A=
c.*1521A= (n.*1521A=)
c.614A=
c.1510A= (p.Thr504=)
c.1567A= (p.Thr523=)
c.1786A= (p.Thr596=)
n.441A=
c.1441A= (p.Thr481=)
c.*863T= (n.*863T=)
c.1582A= (p.Thr528=)
c.1609A= (p.Thr537=)
c.1648A= (p.Thr550=)
n.1590A=
c.1774A= (p.Thr592=)
c.903A=
c.875A=
c.1432A= (p.Thr478=)
c.793A= (p.Thr265=)
c.1543A= (p.Thr515=)
c.133A= (p.Thr45=)
c.920A=
c.1606A= (p.Thr536=)
n.904A=
c.1858A= (p.Thr620=)
c.1852A= (p.Thr618=)
c.1840A= (p.Thr614=)
c.1795A= (p.Thr599=)
c.1792A= (p.Thr598=)
c.1729A= (p.Thr577=)
c.1591A= (p.Thr531=)
c.1486A= (p.Thr496=)
c.1816A= (p.Thr606=)
c.1813A= (p.Thr605=)
c.1750A= (p.Thr584=)
c.1705A= (p.Thr569=)
c.1501A= (p.Thr501=)
c.1801A= (p.Thr601=)
c.1552A= (p.Thr518=)
n.3848T=
n.842A=
5g.96762337A>CCA360484988CAST,ERAP1c.817A>C (p.Thr273Pro)
c.1747A>C (p.Thr583Pro)
c.1525A>C (p.Thr509Pro)
c.1354A>C (p.Thr452Pro)
c.1639A>C (p.Thr547Pro)
c.1831A>C (p.Thr611Pro)
c.1897A>C (p.Thr633Pro)
c.278A>C
c.1799A>C
c.*1521A>C (n.*1521A>C)
c.614A>C
c.1510A>C (p.Thr504Pro)
c.1567A>C (p.Thr523Pro)
c.1786A>C (p.Thr596Pro)
n.441A>C
c.1441A>C (p.Thr481Pro)
c.*863T>G (n.*863T>G)
c.1582A>C (p.Thr528Pro)
c.1609A>C (p.Thr537Pro)
c.1648A>C (p.Thr550Pro)
n.1590A>C
c.1774A>C (p.Thr592Pro)
c.903A>C
c.875A>C
c.1432A>C (p.Thr478Pro)
c.793A>C (p.Thr265Pro)
c.1543A>C (p.Thr515Pro)
c.133A>C (p.Thr45Pro)
c.920A>C
c.1606A>C (p.Thr536Pro)
n.904A>C
c.1858A>C (p.Thr620Pro)
c.1852A>C (p.Thr618Pro)
c.1840A>C (p.Thr614Pro)
c.1795A>C (p.Thr599Pro)
c.1792A>C (p.Thr598Pro)
c.1729A>C (p.Thr577Pro)
c.1591A>C (p.Thr531Pro)
c.1486A>C (p.Thr496Pro)
c.1816A>C (p.Thr606Pro)
c.1813A>C (p.Thr605Pro)
c.1750A>C (p.Thr584Pro)
c.1705A>C (p.Thr569Pro)
c.1501A>C (p.Thr501Pro)
c.1801A>C (p.Thr601Pro)
c.1552A>C (p.Thr518Pro)
n.3848T>G
n.842A>C
5g.96762337A>GCA122976527CAST,ERAP1c.817A>G (p.Thr273Ala)
c.1747A>G (p.Thr583Ala)
c.1525A>G (p.Thr509Ala)
c.1354A>G (p.Thr452Ala)
c.1639A>G (p.Thr547Ala)
c.1831A>G (p.Thr611Ala)
c.1897A>G (p.Thr633Ala)
c.278A>G
c.1799A>G
c.*1521A>G (n.*1521A>G)
c.614A>G
c.1510A>G (p.Thr504Ala)
c.1567A>G (p.Thr523Ala)
c.1786A>G (p.Thr596Ala)
n.441A>G
c.1441A>G (p.Thr481Ala)
c.*863T>C (n.*863T>C)
c.1582A>G (p.Thr528Ala)
c.1609A>G (p.Thr537Ala)
c.1648A>G (p.Thr550Ala)
n.1590A>G
c.1774A>G (p.Thr592Ala)
c.903A>G
c.875A>G
c.1432A>G (p.Thr478Ala)
c.793A>G (p.Thr265Ala)
c.1543A>G (p.Thr515Ala)
c.133A>G (p.Thr45Ala)
c.920A>G
c.1606A>G (p.Thr536Ala)
n.904A>G
c.1858A>G (p.Thr620Ala)
c.1852A>G (p.Thr618Ala)
c.1840A>G (p.Thr614Ala)
c.1795A>G (p.Thr599Ala)
c.1792A>G (p.Thr598Ala)
c.1729A>G (p.Thr577Ala)
c.1591A>G (p.Thr531Ala)
c.1486A>G (p.Thr496Ala)
c.1816A>G (p.Thr606Ala)
c.1813A>G (p.Thr605Ala)
c.1750A>G (p.Thr584Ala)
c.1705A>G (p.Thr569Ala)
c.1501A>G (p.Thr501Ala)
c.1801A>G (p.Thr601Ala)
c.1552A>G (p.Thr518Ala)
n.3848T>C
n.842A>G
 dbSNP gnomAD v2 gnomAD v4
5g.96762337A>TCA360484989CAST,ERAP1c.817A>T (p.Thr273Ser)
c.1747A>T (p.Thr583Ser)
c.1525A>T (p.Thr509Ser)
c.1354A>T (p.Thr452Ser)
c.1639A>T (p.Thr547Ser)
c.1831A>T (p.Thr611Ser)
c.1897A>T (p.Thr633Ser)
c.278A>T
c.1799A>T
c.*1521A>T (n.*1521A>T)
c.614A>T
c.1510A>T (p.Thr504Ser)
c.1567A>T (p.Thr523Ser)
c.1786A>T (p.Thr596Ser)
n.441A>T
c.1441A>T (p.Thr481Ser)
c.*863T>A (n.*863T>A)
c.1582A>T (p.Thr528Ser)
c.1609A>T (p.Thr537Ser)
c.1648A>T (p.Thr550Ser)
n.1590A>T
c.1774A>T (p.Thr592Ser)
c.903A>T
c.875A>T
c.1432A>T (p.Thr478Ser)
c.793A>T (p.Thr265Ser)
c.1543A>T (p.Thr515Ser)
c.133A>T (p.Thr45Ser)
c.920A>T
c.1606A>T (p.Thr536Ser)
n.904A>T
c.1858A>T (p.Thr620Ser)
c.1852A>T (p.Thr618Ser)
c.1840A>T (p.Thr614Ser)
c.1795A>T (p.Thr599Ser)
c.1792A>T (p.Thr598Ser)
c.1729A>T (p.Thr577Ser)
c.1591A>T (p.Thr531Ser)
c.1486A>T (p.Thr496Ser)
c.1816A>T (p.Thr606Ser)
c.1813A>T (p.Thr605Ser)
c.1750A>T (p.Thr584Ser)
c.1705A>T (p.Thr569Ser)
c.1501A>T (p.Thr501Ser)
c.1801A>T (p.Thr601Ser)
c.1552A>T (p.Thr518Ser)
n.3848T>A
n.842A>T
 dbSNP
5g.96762338C>ACA360484990CAST,ERAP1c.818C>A (p.Thr273Lys)
c.1748C>A (p.Thr583Lys)
c.1526C>A (p.Thr509Lys)
c.1355C>A (p.Thr452Lys)
c.1640C>A (p.Thr547Lys)
c.1832C>A (p.Thr611Lys)
c.1898C>A (p.Thr633Lys)
c.279C>A
c.1800C>A
c.*1522C>A (n.*1522C>A)
c.615C>A
c.1511C>A (p.Thr504Lys)
c.1568C>A (p.Thr523Lys)
c.1787C>A (p.Thr596Lys)
n.442C>A
c.1442C>A (p.Thr481Lys)
c.*862G>T (n.*862G>T)
c.1583C>A (p.Thr528Lys)
c.1610C>A (p.Thr537Lys)
c.1649C>A (p.Thr550Lys)
n.1591C>A
c.1775C>A (p.Thr592Lys)
c.904C>A
c.876C>A
c.1433C>A (p.Thr478Lys)
c.794C>A (p.Thr265Lys)
c.1544C>A (p.Thr515Lys)
c.134C>A (p.Thr45Lys)
c.921C>A
c.1607C>A (p.Thr536Lys)
n.905C>A
c.1859C>A (p.Thr620Lys)
c.1853C>A (p.Thr618Lys)
c.1841C>A (p.Thr614Lys)
c.1796C>A (p.Thr599Lys)
c.1793C>A (p.Thr598Lys)
c.1730C>A (p.Thr577Lys)
c.1592C>A (p.Thr531Lys)
c.1487C>A (p.Thr496Lys)
c.1817C>A (p.Thr606Lys)
c.1814C>A (p.Thr605Lys)
c.1751C>A (p.Thr584Lys)
c.1706C>A (p.Thr569Lys)
c.1502C>A (p.Thr501Lys)
c.1802C>A (p.Thr601Lys)
c.1553C>A (p.Thr518Lys)
n.3847G>T
n.843C>A
5g.96762338C=CA1565569293CAST,ERAP1c.818C= (p.Thr273=)
c.1748C= (p.Thr583=)
c.1526C= (p.Thr509=)
c.1355C= (p.Thr452=)
c.1640C= (p.Thr547=)
c.1832C= (p.Thr611=)
c.1898C= (p.Thr633=)
c.279C=
c.1800C=
c.*1522C= (n.*1522C=)
c.615C=
c.1511C= (p.Thr504=)
c.1568C= (p.Thr523=)
c.1787C= (p.Thr596=)
n.442C=
c.1442C= (p.Thr481=)
c.*862G= (n.*862G=)
c.1583C= (p.Thr528=)
c.1610C= (p.Thr537=)
c.1649C= (p.Thr550=)
n.1591C=
c.1775C= (p.Thr592=)
c.904C=
c.876C=
c.1433C= (p.Thr478=)
c.794C= (p.Thr265=)
c.1544C= (p.Thr515=)
c.134C= (p.Thr45=)
c.921C=
c.1607C= (p.Thr536=)
n.905C=
c.1859C= (p.Thr620=)
c.1853C= (p.Thr618=)
c.1841C= (p.Thr614=)
c.1796C= (p.Thr599=)
c.1793C= (p.Thr598=)
c.1730C= (p.Thr577=)
c.1592C= (p.Thr531=)
c.1487C= (p.Thr496=)
c.1817C= (p.Thr606=)
c.1814C= (p.Thr605=)
c.1751C= (p.Thr584=)
c.1706C= (p.Thr569=)
c.1502C= (p.Thr501=)
c.1802C= (p.Thr601=)
c.1553C= (p.Thr518=)
n.3847G=
n.843C=
5g.96762338C>GCA360484991CAST,ERAP1c.818C>G (p.Thr273Arg)
c.1748C>G (p.Thr583Arg)
c.1526C>G (p.Thr509Arg)
c.1355C>G (p.Thr452Arg)
c.1640C>G (p.Thr547Arg)
c.1832C>G (p.Thr611Arg)
c.1898C>G (p.Thr633Arg)
c.279C>G
c.1800C>G
c.*1522C>G (n.*1522C>G)
c.615C>G
c.1511C>G (p.Thr504Arg)
c.1568C>G (p.Thr523Arg)
c.1787C>G (p.Thr596Arg)
n.442C>G
c.1442C>G (p.Thr481Arg)
c.*862G>C (n.*862G>C)
c.1583C>G (p.Thr528Arg)
c.1610C>G (p.Thr537Arg)
c.1649C>G (p.Thr550Arg)
n.1591C>G
c.1775C>G (p.Thr592Arg)
c.904C>G
c.876C>G
c.1433C>G (p.Thr478Arg)
c.794C>G (p.Thr265Arg)
c.1544C>G (p.Thr515Arg)
c.134C>G (p.Thr45Arg)
c.921C>G
c.1607C>G (p.Thr536Arg)
n.905C>G
c.1859C>G (p.Thr620Arg)
c.1853C>G (p.Thr618Arg)
c.1841C>G (p.Thr614Arg)
c.1796C>G (p.Thr599Arg)
c.1793C>G (p.Thr598Arg)
c.1730C>G (p.Thr577Arg)
c.1592C>G (p.Thr531Arg)
c.1487C>G (p.Thr496Arg)
c.1817C>G (p.Thr606Arg)
c.1814C>G (p.Thr605Arg)
c.1751C>G (p.Thr584Arg)
c.1706C>G (p.Thr569Arg)
c.1502C>G (p.Thr501Arg)
c.1802C>G (p.Thr601Arg)
c.1553C>G (p.Thr518Arg)
n.3847G>C
n.843C>G
5g.96762338C>TCA3351511CAST,ERAP1c.818C>T (p.Thr273Met)
c.1748C>T (p.Thr583Met)
c.1526C>T (p.Thr509Met)
c.1355C>T (p.Thr452Met)
c.1640C>T (p.Thr547Met)
c.1832C>T (p.Thr611Met)
c.1898C>T (p.Thr633Met)
c.279C>T
c.1800C>T
c.*1522C>T (n.*1522C>T)
c.615C>T
c.1511C>T (p.Thr504Met)
c.1568C>T (p.Thr523Met)
c.1787C>T (p.Thr596Met)
n.442C>T
c.1442C>T (p.Thr481Met)
c.*862G>A (n.*862G>A)
c.1583C>T (p.Thr528Met)
c.1610C>T (p.Thr537Met)
c.1649C>T (p.Thr550Met)
n.1591C>T
c.1775C>T (p.Thr592Met)
c.904C>T
c.876C>T
c.1433C>T (p.Thr478Met)
c.794C>T (p.Thr265Met)
c.1544C>T (p.Thr515Met)
c.134C>T (p.Thr45Met)
c.921C>T
c.1607C>T (p.Thr536Met)
n.905C>T
c.1859C>T (p.Thr620Met)
c.1853C>T (p.Thr618Met)
c.1841C>T (p.Thr614Met)
c.1796C>T (p.Thr599Met)
c.1793C>T (p.Thr598Met)
c.1730C>T (p.Thr577Met)
c.1592C>T (p.Thr531Met)
c.1487C>T (p.Thr496Met)
c.1817C>T (p.Thr606Met)
c.1814C>T (p.Thr605Met)
c.1751C>T (p.Thr584Met)
c.1706C>T (p.Thr569Met)
c.1502C>T (p.Thr501Met)
c.1802C>T (p.Thr601Met)
c.1553C>T (p.Thr518Met)
n.3847G>A
n.843C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.96762339G>ACA3351512CAST,ERAP1c.819G>A (p.Thr273=)
c.1749G>A (p.Thr583=)
c.1527G>A (p.Thr509=)
c.1356G>A (p.Thr452=)
c.1641G>A (p.Thr547=)
c.1833G>A (p.Thr611=)
c.1899G>A (p.Thr633=)
c.280G>A
c.1801G>A
c.*1523G>A (n.*1523G>A)
c.616G>A
c.1512G>A (p.Thr504=)
c.1569G>A (p.Thr523=)
c.1788G>A (p.Thr596=)
n.443G>A
c.1443G>A (p.Thr481=)
c.*861C>T (n.*861C>T)
c.1584G>A (p.Thr528=)
c.1611G>A (p.Thr537=)
c.1650G>A (p.Thr550=)
n.1592G>A
c.1776G>A (p.Thr592=)
c.905G>A
c.877G>A
c.1434G>A (p.Thr478=)
c.795G>A (p.Thr265=)
c.1545G>A (p.Thr515=)
c.135G>A (p.Thr45=)
c.922G>A
c.1608G>A (p.Thr536=)
n.906G>A
c.1860G>A (p.Thr620=)
c.1854G>A (p.Thr618=)
c.1842G>A (p.Thr614=)
c.1797G>A (p.Thr599=)
c.1794G>A (p.Thr598=)
c.1731G>A (p.Thr577=)
c.1593G>A (p.Thr531=)
c.1488G>A (p.Thr496=)
c.1818G>A (p.Thr606=)
c.1815G>A (p.Thr605=)
c.1752G>A (p.Thr584=)
c.1707G>A (p.Thr569=)
c.1503G>A (p.Thr501=)
c.1803G>A (p.Thr601=)
c.1554G>A (p.Thr518=)
n.3846C>T
n.844G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762339G>CCA445511090CAST,ERAP1c.819G>C (p.Thr273=)
c.1749G>C (p.Thr583=)
c.1527G>C (p.Thr509=)
c.1356G>C (p.Thr452=)
c.1641G>C (p.Thr547=)
c.1833G>C (p.Thr611=)
c.1899G>C (p.Thr633=)
c.280G>C
c.1801G>C
c.*1523G>C (n.*1523G>C)
c.616G>C
c.1512G>C (p.Thr504=)
c.1569G>C (p.Thr523=)
c.1788G>C (p.Thr596=)
n.443G>C
c.1443G>C (p.Thr481=)
c.*861C>G (n.*861C>G)
c.1584G>C (p.Thr528=)
c.1611G>C (p.Thr537=)
c.1650G>C (p.Thr550=)
n.1592G>C
c.1776G>C (p.Thr592=)
c.905G>C
c.877G>C
c.1434G>C (p.Thr478=)
c.795G>C (p.Thr265=)
c.1545G>C (p.Thr515=)
c.135G>C (p.Thr45=)
c.922G>C
c.1608G>C (p.Thr536=)
n.906G>C
c.1860G>C (p.Thr620=)
c.1854G>C (p.Thr618=)
c.1842G>C (p.Thr614=)
c.1797G>C (p.Thr599=)
c.1794G>C (p.Thr598=)
c.1731G>C (p.Thr577=)
c.1593G>C (p.Thr531=)
c.1488G>C (p.Thr496=)
c.1818G>C (p.Thr606=)
c.1815G>C (p.Thr605=)
c.1752G>C (p.Thr584=)
c.1707G>C (p.Thr569=)
c.1503G>C (p.Thr501=)
c.1803G>C (p.Thr601=)
c.1554G>C (p.Thr518=)
n.3846C>G
n.844G>C
5g.96762339G=CA1565569294CAST,ERAP1c.819G= (p.Thr273=)
c.1749G= (p.Thr583=)
c.1527G= (p.Thr509=)
c.1356G= (p.Thr452=)
c.1641G= (p.Thr547=)
c.1833G= (p.Thr611=)
c.1899G= (p.Thr633=)
c.280G=
c.1801G=
c.*1523G= (n.*1523G=)
c.616G=
c.1512G= (p.Thr504=)
c.1569G= (p.Thr523=)
c.1788G= (p.Thr596=)
n.443G=
c.1443G= (p.Thr481=)
c.*861C= (n.*861C=)
c.1584G= (p.Thr528=)
c.1611G= (p.Thr537=)
c.1650G= (p.Thr550=)
n.1592G=
c.1776G= (p.Thr592=)
c.905G=
c.877G=
c.1434G= (p.Thr478=)
c.795G= (p.Thr265=)
c.1545G= (p.Thr515=)
c.135G= (p.Thr45=)
c.922G=
c.1608G= (p.Thr536=)
n.906G=
c.1860G= (p.Thr620=)
c.1854G= (p.Thr618=)
c.1842G= (p.Thr614=)
c.1797G= (p.Thr599=)
c.1794G= (p.Thr598=)
c.1731G= (p.Thr577=)
c.1593G= (p.Thr531=)
c.1488G= (p.Thr496=)
c.1818G= (p.Thr606=)
c.1815G= (p.Thr605=)
c.1752G= (p.Thr584=)
c.1707G= (p.Thr569=)
c.1503G= (p.Thr501=)
c.1803G= (p.Thr601=)
c.1554G= (p.Thr518=)
n.3846C=
n.844G=
5g.96762339G>TCA445511091CAST,ERAP1c.819G>T (p.Thr273=)
c.1749G>T (p.Thr583=)
c.1527G>T (p.Thr509=)
c.1356G>T (p.Thr452=)
c.1641G>T (p.Thr547=)
c.1833G>T (p.Thr611=)
c.1899G>T (p.Thr633=)
c.280G>T
c.1801G>T
c.*1523G>T (n.*1523G>T)
c.616G>T
c.1512G>T (p.Thr504=)
c.1569G>T (p.Thr523=)
c.1788G>T (p.Thr596=)
n.443G>T
c.1443G>T (p.Thr481=)
c.*861C>A (n.*861C>A)
c.1584G>T (p.Thr528=)
c.1611G>T (p.Thr537=)
c.1650G>T (p.Thr550=)
n.1592G>T
c.1776G>T (p.Thr592=)
c.905G>T
c.877G>T
c.1434G>T (p.Thr478=)
c.795G>T (p.Thr265=)
c.1545G>T (p.Thr515=)
c.135G>T (p.Thr45=)
c.922G>T
c.1608G>T (p.Thr536=)
n.906G>T
c.1860G>T (p.Thr620=)
c.1854G>T (p.Thr618=)
c.1842G>T (p.Thr614=)
c.1797G>T (p.Thr599=)
c.1794G>T (p.Thr598=)
c.1731G>T (p.Thr577=)
c.1593G>T (p.Thr531=)
c.1488G>T (p.Thr496=)
c.1818G>T (p.Thr606=)
c.1815G>T (p.Thr605=)
c.1752G>T (p.Thr584=)
c.1707G>T (p.Thr569=)
c.1503G>T (p.Thr501=)
c.1803G>T (p.Thr601=)
c.1554G>T (p.Thr518=)
n.3846C>A
n.844G>T
5g.96762340A>CCA360484992CAST,ERAP1c.820A>C (p.Thr274Pro)
c.1750A>C (p.Thr584Pro)
c.1528A>C (p.Thr510Pro)
c.1357A>C (p.Thr453Pro)
c.1642A>C (p.Thr548Pro)
c.1834A>C (p.Thr612Pro)
c.1900A>C (p.Thr634Pro)
c.281A>C
c.1802A>C
c.*1524A>C (n.*1524A>C)
c.617A>C
c.1513A>C (p.Thr505Pro)
c.1570A>C (p.Thr524Pro)
c.1789A>C (p.Thr597Pro)
n.444A>C
c.1444A>C (p.Thr482Pro)
c.*860T>G (n.*860T>G)
c.1585A>C (p.Thr529Pro)
c.1612A>C (p.Thr538Pro)
c.1651A>C (p.Thr551Pro)
n.1593A>C
c.1777A>C (p.Thr593Pro)
c.906A>C
c.878A>C
c.1435A>C (p.Thr479Pro)
c.796A>C (p.Thr266Pro)
c.1546A>C (p.Thr516Pro)
c.136A>C (p.Thr46Pro)
c.923A>C
c.1609A>C (p.Thr537Pro)
n.907A>C
c.1861A>C (p.Thr621Pro)
c.1855A>C (p.Thr619Pro)
c.1843A>C (p.Thr615Pro)
c.1798A>C (p.Thr600Pro)
c.1795A>C (p.Thr599Pro)
c.1732A>C (p.Thr578Pro)
c.1594A>C (p.Thr532Pro)
c.1489A>C (p.Thr497Pro)
c.1819A>C (p.Thr607Pro)
c.1816A>C (p.Thr606Pro)
c.1753A>C (p.Thr585Pro)
c.1708A>C (p.Thr570Pro)
c.1504A>C (p.Thr502Pro)
c.1804A>C (p.Thr602Pro)
c.1555A>C (p.Thr519Pro)
n.3845T>G
n.845A>C
5g.96762340A>GCA360484993CAST,ERAP1c.820A>G (p.Thr274Ala)
c.1750A>G (p.Thr584Ala)
c.1528A>G (p.Thr510Ala)
c.1357A>G (p.Thr453Ala)
c.1642A>G (p.Thr548Ala)
c.1834A>G (p.Thr612Ala)
c.1900A>G (p.Thr634Ala)
c.281A>G
c.1802A>G
c.*1524A>G (n.*1524A>G)
c.617A>G
c.1513A>G (p.Thr505Ala)
c.1570A>G (p.Thr524Ala)
c.1789A>G (p.Thr597Ala)
n.444A>G
c.1444A>G (p.Thr482Ala)
c.*860T>C (n.*860T>C)
c.1585A>G (p.Thr529Ala)
c.1612A>G (p.Thr538Ala)
c.1651A>G (p.Thr551Ala)
n.1593A>G
c.1777A>G (p.Thr593Ala)
c.906A>G
c.878A>G
c.1435A>G (p.Thr479Ala)
c.796A>G (p.Thr266Ala)
c.1546A>G (p.Thr516Ala)
c.136A>G (p.Thr46Ala)
c.923A>G
c.1609A>G (p.Thr537Ala)
n.907A>G
c.1861A>G (p.Thr621Ala)
c.1855A>G (p.Thr619Ala)
c.1843A>G (p.Thr615Ala)
c.1798A>G (p.Thr600Ala)
c.1795A>G (p.Thr599Ala)
c.1732A>G (p.Thr578Ala)
c.1594A>G (p.Thr532Ala)
c.1489A>G (p.Thr497Ala)
c.1819A>G (p.Thr607Ala)
c.1816A>G (p.Thr606Ala)
c.1753A>G (p.Thr585Ala)
c.1708A>G (p.Thr570Ala)
c.1504A>G (p.Thr502Ala)
c.1804A>G (p.Thr602Ala)
c.1555A>G (p.Thr519Ala)
n.3845T>C
n.845A>G
5g.96762340A>TCA360484994CAST,ERAP1c.820A>T (p.Thr274Ser)
c.1750A>T (p.Thr584Ser)
c.1528A>T (p.Thr510Ser)
c.1357A>T (p.Thr453Ser)
c.1642A>T (p.Thr548Ser)
c.1834A>T (p.Thr612Ser)
c.1900A>T (p.Thr634Ser)
c.281A>T
c.1802A>T
c.*1524A>T (n.*1524A>T)
c.617A>T
c.1513A>T (p.Thr505Ser)
c.1570A>T (p.Thr524Ser)
c.1789A>T (p.Thr597Ser)
n.444A>T
c.1444A>T (p.Thr482Ser)
c.*860T>A (n.*860T>A)
c.1585A>T (p.Thr529Ser)
c.1612A>T (p.Thr538Ser)
c.1651A>T (p.Thr551Ser)
n.1593A>T
c.1777A>T (p.Thr593Ser)
c.906A>T
c.878A>T
c.1435A>T (p.Thr479Ser)
c.796A>T (p.Thr266Ser)
c.1546A>T (p.Thr516Ser)
c.136A>T (p.Thr46Ser)
c.923A>T
c.1609A>T (p.Thr537Ser)
n.907A>T
c.1861A>T (p.Thr621Ser)
c.1855A>T (p.Thr619Ser)
c.1843A>T (p.Thr615Ser)
c.1798A>T (p.Thr600Ser)
c.1795A>T (p.Thr599Ser)
c.1732A>T (p.Thr578Ser)
c.1594A>T (p.Thr532Ser)
c.1489A>T (p.Thr497Ser)
c.1819A>T (p.Thr607Ser)
c.1816A>T (p.Thr606Ser)
c.1753A>T (p.Thr585Ser)
c.1708A>T (p.Thr570Ser)
c.1504A>T (p.Thr502Ser)
c.1804A>T (p.Thr602Ser)
c.1555A>T (p.Thr519Ser)
n.3845T>A
n.845A>T
5g.96762341C>ACA360484997CAST,ERAP1c.821C>A (p.Thr274Asn)
c.1751C>A (p.Thr584Asn)
c.1529C>A (p.Thr510Asn)
c.1358C>A (p.Thr453Asn)
c.1643C>A (p.Thr548Asn)
c.1835C>A (p.Thr612Asn)
c.1901C>A (p.Thr634Asn)
c.282C>A
c.1803C>A
c.*1525C>A (n.*1525C>A)
c.618C>A
c.1514C>A (p.Thr505Asn)
c.1571C>A (p.Thr524Asn)
c.1790C>A (p.Thr597Asn)
n.445C>A
c.1445C>A (p.Thr482Asn)
c.*859G>T (n.*859G>T)
c.1586C>A (p.Thr529Asn)
c.1613C>A (p.Thr538Asn)
c.1652C>A (p.Thr551Asn)
n.1594C>A
c.1778C>A (p.Thr593Asn)
c.907C>A
c.879C>A
c.1436C>A (p.Thr479Asn)
c.797C>A (p.Thr266Asn)
c.1547C>A (p.Thr516Asn)
c.137C>A (p.Thr46Asn)
c.924C>A
c.1610C>A (p.Thr537Asn)
n.908C>A
c.1862C>A (p.Thr621Asn)
c.1856C>A (p.Thr619Asn)
c.1844C>A (p.Thr615Asn)
c.1799C>A (p.Thr600Asn)
c.1796C>A (p.Thr599Asn)
c.1733C>A (p.Thr578Asn)
c.1595C>A (p.Thr532Asn)
c.1490C>A (p.Thr497Asn)
c.1820C>A (p.Thr607Asn)
c.1817C>A (p.Thr606Asn)
c.1754C>A (p.Thr585Asn)
c.1709C>A (p.Thr570Asn)
c.1505C>A (p.Thr502Asn)
c.1805C>A (p.Thr602Asn)
c.1556C>A (p.Thr519Asn)
n.3844G>T
n.846C>A
5g.96762341C=CA1565569295CAST,ERAP1c.821C= (p.Thr274=)
c.1751C= (p.Thr584=)
c.1529C= (p.Thr510=)
c.1358C= (p.Thr453=)
c.1643C= (p.Thr548=)
c.1835C= (p.Thr612=)
c.1901C= (p.Thr634=)
c.282C=
c.1803C=
c.*1525C= (n.*1525C=)
c.618C=
c.1514C= (p.Thr505=)
c.1571C= (p.Thr524=)
c.1790C= (p.Thr597=)
n.445C=
c.1445C= (p.Thr482=)
c.*859G= (n.*859G=)
c.1586C= (p.Thr529=)
c.1613C= (p.Thr538=)
c.1652C= (p.Thr551=)
n.1594C=
c.1778C= (p.Thr593=)
c.907C=
c.879C=
c.1436C= (p.Thr479=)
c.797C= (p.Thr266=)
c.1547C= (p.Thr516=)
c.137C= (p.Thr46=)
c.924C=
c.1610C= (p.Thr537=)
n.908C=
c.1862C= (p.Thr621=)
c.1856C= (p.Thr619=)
c.1844C= (p.Thr615=)
c.1799C= (p.Thr600=)
c.1796C= (p.Thr599=)
c.1733C= (p.Thr578=)
c.1595C= (p.Thr532=)
c.1490C= (p.Thr497=)
c.1820C= (p.Thr607=)
c.1817C= (p.Thr606=)
c.1754C= (p.Thr585=)
c.1709C= (p.Thr570=)
c.1505C= (p.Thr502=)
c.1805C= (p.Thr602=)
c.1556C= (p.Thr519=)
n.3844G=
n.846C=
5g.96762341C>GCA360484996CAST,ERAP1c.821C>G (p.Thr274Ser)
c.1751C>G (p.Thr584Ser)
c.1529C>G (p.Thr510Ser)
c.1358C>G (p.Thr453Ser)
c.1643C>G (p.Thr548Ser)
c.1835C>G (p.Thr612Ser)
c.1901C>G (p.Thr634Ser)
c.282C>G
c.1803C>G
c.*1525C>G (n.*1525C>G)
c.618C>G
c.1514C>G (p.Thr505Ser)
c.1571C>G (p.Thr524Ser)
c.1790C>G (p.Thr597Ser)
n.445C>G
c.1445C>G (p.Thr482Ser)
c.*859G>C (n.*859G>C)
c.1586C>G (p.Thr529Ser)
c.1613C>G (p.Thr538Ser)
c.1652C>G (p.Thr551Ser)
n.1594C>G
c.1778C>G (p.Thr593Ser)
c.907C>G
c.879C>G
c.1436C>G (p.Thr479Ser)
c.797C>G (p.Thr266Ser)
c.1547C>G (p.Thr516Ser)
c.137C>G (p.Thr46Ser)
c.924C>G
c.1610C>G (p.Thr537Ser)
n.908C>G
c.1862C>G (p.Thr621Ser)
c.1856C>G (p.Thr619Ser)
c.1844C>G (p.Thr615Ser)
c.1799C>G (p.Thr600Ser)
c.1796C>G (p.Thr599Ser)
c.1733C>G (p.Thr578Ser)
c.1595C>G (p.Thr532Ser)
c.1490C>G (p.Thr497Ser)
c.1820C>G (p.Thr607Ser)
c.1817C>G (p.Thr606Ser)
c.1754C>G (p.Thr585Ser)
c.1709C>G (p.Thr570Ser)
c.1505C>G (p.Thr502Ser)
c.1805C>G (p.Thr602Ser)
c.1556C>G (p.Thr519Ser)
n.3844G>C
n.846C>G
5g.96762341C>TCA360484995CAST,ERAP1c.821C>T (p.Thr274Ile)
c.1751C>T (p.Thr584Ile)
c.1529C>T (p.Thr510Ile)
c.1358C>T (p.Thr453Ile)
c.1643C>T (p.Thr548Ile)
c.1835C>T (p.Thr612Ile)
c.1901C>T (p.Thr634Ile)
c.282C>T
c.1803C>T
c.*1525C>T (n.*1525C>T)
c.618C>T
c.1514C>T (p.Thr505Ile)
c.1571C>T (p.Thr524Ile)
c.1790C>T (p.Thr597Ile)
n.445C>T
c.1445C>T (p.Thr482Ile)
c.*859G>A (n.*859G>A)
c.1586C>T (p.Thr529Ile)
c.1613C>T (p.Thr538Ile)
c.1652C>T (p.Thr551Ile)
n.1594C>T
c.1778C>T (p.Thr593Ile)
c.907C>T
c.879C>T
c.1436C>T (p.Thr479Ile)
c.797C>T (p.Thr266Ile)
c.1547C>T (p.Thr516Ile)
c.137C>T (p.Thr46Ile)
c.924C>T
c.1610C>T (p.Thr537Ile)
n.908C>T
c.1862C>T (p.Thr621Ile)
c.1856C>T (p.Thr619Ile)
c.1844C>T (p.Thr615Ile)
c.1799C>T (p.Thr600Ile)
c.1796C>T (p.Thr599Ile)
c.1733C>T (p.Thr578Ile)
c.1595C>T (p.Thr532Ile)
c.1490C>T (p.Thr497Ile)
c.1820C>T (p.Thr607Ile)
c.1817C>T (p.Thr606Ile)
c.1754C>T (p.Thr585Ile)
c.1709C>T (p.Thr570Ile)
c.1505C>T (p.Thr502Ile)
c.1805C>T (p.Thr602Ile)
c.1556C>T (p.Thr519Ile)
n.3844G>A
n.846C>T
 dbSNP gnomAD v3 gnomAD v4
5g.96762342C>ACA445511092CAST,ERAP1c.822C>A (p.Thr274=)
c.1752C>A (p.Thr584=)
c.1530C>A (p.Thr510=)
c.1359C>A (p.Thr453=)
c.1644C>A (p.Thr548=)
c.1836C>A (p.Thr612=)
c.1902C>A (p.Thr634=)
c.283C>A
c.1804C>A
c.*1526C>A (n.*1526C>A)
c.619C>A
c.1515C>A (p.Thr505=)
c.1572C>A (p.Thr524=)
c.1791C>A (p.Thr597=)
n.446C>A
c.1446C>A (p.Thr482=)
c.*858G>T (n.*858G>T)
c.1587C>A (p.Thr529=)
c.1614C>A (p.Thr538=)
c.1653C>A (p.Thr551=)
n.1595C>A
c.1779C>A (p.Thr593=)
c.908C>A
c.880C>A
c.1437C>A (p.Thr479=)
c.798C>A (p.Thr266=)
c.1548C>A (p.Thr516=)
c.138C>A (p.Thr46=)
c.925C>A
c.1611C>A (p.Thr537=)
n.909C>A
c.1863C>A (p.Thr621=)
c.1857C>A (p.Thr619=)
c.1845C>A (p.Thr615=)
c.1800C>A (p.Thr600=)
c.1797C>A (p.Thr599=)
c.1734C>A (p.Thr578=)
c.1596C>A (p.Thr532=)
c.1491C>A (p.Thr497=)
c.1821C>A (p.Thr607=)
c.1818C>A (p.Thr606=)
c.1755C>A (p.Thr585=)
c.1710C>A (p.Thr570=)
c.1506C>A (p.Thr502=)
c.1806C>A (p.Thr602=)
c.1557C>A (p.Thr519=)
n.3843G>T
n.847C>A
5g.96762342C=CA1565569296CAST,ERAP1c.822C= (p.Thr274=)
c.1752C= (p.Thr584=)
c.1530C= (p.Thr510=)
c.1359C= (p.Thr453=)
c.1644C= (p.Thr548=)
c.1836C= (p.Thr612=)
c.1902C= (p.Thr634=)
c.283C=
c.1804C=
c.*1526C= (n.*1526C=)
c.619C=
c.1515C= (p.Thr505=)
c.1572C= (p.Thr524=)
c.1791C= (p.Thr597=)
n.446C=
c.1446C= (p.Thr482=)
c.*858G= (n.*858G=)
c.1587C= (p.Thr529=)
c.1614C= (p.Thr538=)
c.1653C= (p.Thr551=)
n.1595C=
c.1779C= (p.Thr593=)
c.908C=
c.880C=
c.1437C= (p.Thr479=)
c.798C= (p.Thr266=)
c.1548C= (p.Thr516=)
c.138C= (p.Thr46=)
c.925C=
c.1611C= (p.Thr537=)
n.909C=
c.1863C= (p.Thr621=)
c.1857C= (p.Thr619=)
c.1845C= (p.Thr615=)
c.1800C= (p.Thr600=)
c.1797C= (p.Thr599=)
c.1734C= (p.Thr578=)
c.1596C= (p.Thr532=)
c.1491C= (p.Thr497=)
c.1821C= (p.Thr607=)
c.1818C= (p.Thr606=)
c.1755C= (p.Thr585=)
c.1710C= (p.Thr570=)
c.1506C= (p.Thr502=)
c.1806C= (p.Thr602=)
c.1557C= (p.Thr519=)
n.3843G=
n.847C=
5g.96762342C>GCA3351513CAST,ERAP1c.822C>G (p.Thr274=)
c.1752C>G (p.Thr584=)
c.1530C>G (p.Thr510=)
c.1359C>G (p.Thr453=)
c.1644C>G (p.Thr548=)
c.1836C>G (p.Thr612=)
c.1902C>G (p.Thr634=)
c.283C>G
c.1804C>G
c.*1526C>G (n.*1526C>G)
c.619C>G
c.1515C>G (p.Thr505=)
c.1572C>G (p.Thr524=)
c.1791C>G (p.Thr597=)
n.446C>G
c.1446C>G (p.Thr482=)
c.*858G>C (n.*858G>C)
c.1587C>G (p.Thr529=)
c.1614C>G (p.Thr538=)
c.1653C>G (p.Thr551=)
n.1595C>G
c.1779C>G (p.Thr593=)
c.908C>G
c.880C>G
c.1437C>G (p.Thr479=)
c.798C>G (p.Thr266=)
c.1548C>G (p.Thr516=)
c.138C>G (p.Thr46=)
c.925C>G
c.1611C>G (p.Thr537=)
n.909C>G
c.1863C>G (p.Thr621=)
c.1857C>G (p.Thr619=)
c.1845C>G (p.Thr615=)
c.1800C>G (p.Thr600=)
c.1797C>G (p.Thr599=)
c.1734C>G (p.Thr578=)
c.1596C>G (p.Thr532=)
c.1491C>G (p.Thr497=)
c.1821C>G (p.Thr607=)
c.1818C>G (p.Thr606=)
c.1755C>G (p.Thr585=)
c.1710C>G (p.Thr570=)
c.1506C>G (p.Thr502=)
c.1806C>G (p.Thr602=)
c.1557C>G (p.Thr519=)
n.3843G>C
n.847C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762342C>TCA445511093CAST,ERAP1c.822C>T (p.Thr274=)
c.1752C>T (p.Thr584=)
c.1530C>T (p.Thr510=)
c.1359C>T (p.Thr453=)
c.1644C>T (p.Thr548=)
c.1836C>T (p.Thr612=)
c.1902C>T (p.Thr634=)
c.283C>T
c.1804C>T
c.*1526C>T (n.*1526C>T)
c.619C>T
c.1515C>T (p.Thr505=)
c.1572C>T (p.Thr524=)
c.1791C>T (p.Thr597=)
n.446C>T
c.1446C>T (p.Thr482=)
c.*858G>A (n.*858G>A)
c.1587C>T (p.Thr529=)
c.1614C>T (p.Thr538=)
c.1653C>T (p.Thr551=)
n.1595C>T
c.1779C>T (p.Thr593=)
c.908C>T
c.880C>T
c.1437C>T (p.Thr479=)
c.798C>T (p.Thr266=)
c.1548C>T (p.Thr516=)
c.138C>T (p.Thr46=)
c.925C>T
c.1611C>T (p.Thr537=)
n.909C>T
c.1863C>T (p.Thr621=)
c.1857C>T (p.Thr619=)
c.1845C>T (p.Thr615=)
c.1800C>T (p.Thr600=)
c.1797C>T (p.Thr599=)
c.1734C>T (p.Thr578=)
c.1596C>T (p.Thr532=)
c.1491C>T (p.Thr497=)
c.1821C>T (p.Thr607=)
c.1818C>T (p.Thr606=)
c.1755C>T (p.Thr585=)
c.1710C>T (p.Thr570=)
c.1506C>T (p.Thr502=)
c.1806C>T (p.Thr602=)
c.1557C>T (p.Thr519=)
n.3843G>A
n.847C>T
5g.96762343C>ACA360484998CAST,ERAP1c.823C>A (p.Gln275Lys)
c.1753C>A (p.Gln585Lys)
c.1531C>A (p.Gln511Lys)
c.1360C>A (p.Gln454Lys)
c.1645C>A (p.Gln549Lys)
c.1837C>A (p.Gln613Lys)
c.1903C>A (p.Gln635Lys)
c.284C>A
c.1805C>A
c.*1527C>A (n.*1527C>A)
c.620C>A
c.1516C>A (p.Gln506Lys)
c.1573C>A (p.Gln525Lys)
c.1792C>A (p.Gln598Lys)
n.447C>A
c.1447C>A (p.Gln483Lys)
c.*857G>T (n.*857G>T)
c.1588C>A (p.Gln530Lys)
c.1615C>A (p.Gln539Lys)
c.1654C>A (p.Gln552Lys)
n.1596C>A
c.1780C>A (p.Gln594Lys)
c.909C>A
c.881C>A
c.1438C>A (p.Gln480Lys)
c.799C>A (p.Gln267Lys)
c.1549C>A (p.Gln517Lys)
c.139C>A (p.Gln47Lys)
c.926C>A
c.1612C>A (p.Gln538Lys)
n.910C>A
c.1864C>A (p.Gln622Lys)
c.1858C>A (p.Gln620Lys)
c.1846C>A (p.Gln616Lys)
c.1801C>A (p.Gln601Lys)
c.1798C>A (p.Gln600Lys)
c.1735C>A (p.Gln579Lys)
c.1597C>A (p.Gln533Lys)
c.1492C>A (p.Gln498Lys)
c.1822C>A (p.Gln608Lys)
c.1819C>A (p.Gln607Lys)
c.1756C>A (p.Gln586Lys)
c.1711C>A (p.Gln571Lys)
c.1507C>A (p.Gln503Lys)
c.1807C>A (p.Gln603Lys)
c.1558C>A (p.Gln520Lys)
n.3842G>T
n.848C>A
5g.96762343C>GCA360484999CAST,ERAP1c.823C>G (p.Gln275Glu)
c.1753C>G (p.Gln585Glu)
c.1531C>G (p.Gln511Glu)
c.1360C>G (p.Gln454Glu)
c.1645C>G (p.Gln549Glu)
c.1837C>G (p.Gln613Glu)
c.1903C>G (p.Gln635Glu)
c.284C>G
c.1805C>G
c.*1527C>G (n.*1527C>G)
c.620C>G
c.1516C>G (p.Gln506Glu)
c.1573C>G (p.Gln525Glu)
c.1792C>G (p.Gln598Glu)
n.447C>G
c.1447C>G (p.Gln483Glu)
c.*857G>C (n.*857G>C)
c.1588C>G (p.Gln530Glu)
c.1615C>G (p.Gln539Glu)
c.1654C>G (p.Gln552Glu)
n.1596C>G
c.1780C>G (p.Gln594Glu)
c.909C>G
c.881C>G
c.1438C>G (p.Gln480Glu)
c.799C>G (p.Gln267Glu)
c.1549C>G (p.Gln517Glu)
c.139C>G (p.Gln47Glu)
c.926C>G
c.1612C>G (p.Gln538Glu)
n.910C>G
c.1864C>G (p.Gln622Glu)
c.1858C>G (p.Gln620Glu)
c.1846C>G (p.Gln616Glu)
c.1801C>G (p.Gln601Glu)
c.1798C>G (p.Gln600Glu)
c.1735C>G (p.Gln579Glu)
c.1597C>G (p.Gln533Glu)
c.1492C>G (p.Gln498Glu)
c.1822C>G (p.Gln608Glu)
c.1819C>G (p.Gln607Glu)
c.1756C>G (p.Gln586Glu)
c.1711C>G (p.Gln571Glu)
c.1507C>G (p.Gln503Glu)
c.1807C>G (p.Gln603Glu)
c.1558C>G (p.Gln520Glu)
n.3842G>C
n.848C>G
5g.96762343C>TCA360485000CAST,ERAP1c.823C>T (p.Gln275Ter)
c.1753C>T (p.Gln585Ter)
c.1531C>T (p.Gln511Ter)
c.1360C>T (p.Gln454Ter)
c.1645C>T (p.Gln549Ter)
c.1837C>T (p.Gln613Ter)
c.1903C>T (p.Gln635Ter)
c.284C>T
c.1805C>T
c.*1527C>T (n.*1527C>T)
c.620C>T
c.1516C>T (p.Gln506Ter)
c.1573C>T (p.Gln525Ter)
c.1792C>T (p.Gln598Ter)
n.447C>T
c.1447C>T (p.Gln483Ter)
c.*857G>A (n.*857G>A)
c.1588C>T (p.Gln530Ter)
c.1615C>T (p.Gln539Ter)
c.1654C>T (p.Gln552Ter)
n.1596C>T
c.1780C>T (p.Gln594Ter)
c.909C>T
c.881C>T
c.1438C>T (p.Gln480Ter)
c.799C>T (p.Gln267Ter)
c.1549C>T (p.Gln517Ter)
c.139C>T (p.Gln47Ter)
c.926C>T
c.1612C>T (p.Gln538Ter)
n.910C>T
c.1864C>T (p.Gln622Ter)
c.1858C>T (p.Gln620Ter)
c.1846C>T (p.Gln616Ter)
c.1801C>T (p.Gln601Ter)
c.1798C>T (p.Gln600Ter)
c.1735C>T (p.Gln579Ter)
c.1597C>T (p.Gln533Ter)
c.1492C>T (p.Gln498Ter)
c.1822C>T (p.Gln608Ter)
c.1819C>T (p.Gln607Ter)
c.1756C>T (p.Gln586Ter)
c.1711C>T (p.Gln571Ter)
c.1507C>T (p.Gln503Ter)
c.1807C>T (p.Gln603Ter)
c.1558C>T (p.Gln520Ter)
n.3842G>A
n.848C>T
5g.96762344A>CCA360485001CAST,ERAP1c.824A>C (p.Gln275Pro)
c.1754A>C (p.Gln585Pro)
c.1532A>C (p.Gln511Pro)
c.1361A>C (p.Gln454Pro)
c.1646A>C (p.Gln549Pro)
c.1838A>C (p.Gln613Pro)
c.1904A>C (p.Gln635Pro)
c.285A>C
c.1806A>C
c.*1528A>C (n.*1528A>C)
c.621A>C
c.1517A>C (p.Gln506Pro)
c.1574A>C (p.Gln525Pro)
c.1793A>C (p.Gln598Pro)
n.448A>C
c.1448A>C (p.Gln483Pro)
c.*856T>G (n.*856T>G)
c.1589A>C (p.Gln530Pro)
c.1616A>C (p.Gln539Pro)
c.1655A>C (p.Gln552Pro)
n.1597A>C
c.1781A>C (p.Gln594Pro)
c.910A>C
c.882A>C
c.1439A>C (p.Gln480Pro)
c.800A>C (p.Gln267Pro)
c.1550A>C (p.Gln517Pro)
c.140A>C (p.Gln47Pro)
c.927A>C
c.1613A>C (p.Gln538Pro)
n.911A>C
c.1865A>C (p.Gln622Pro)
c.1859A>C (p.Gln620Pro)
c.1847A>C (p.Gln616Pro)
c.1802A>C (p.Gln601Pro)
c.1799A>C (p.Gln600Pro)
c.1736A>C (p.Gln579Pro)
c.1598A>C (p.Gln533Pro)
c.1493A>C (p.Gln498Pro)
c.1823A>C (p.Gln608Pro)
c.1820A>C (p.Gln607Pro)
c.1757A>C (p.Gln586Pro)
c.1712A>C (p.Gln571Pro)
c.1508A>C (p.Gln503Pro)
c.1808A>C (p.Gln603Pro)
c.1559A>C (p.Gln520Pro)
n.3841T>G
n.849A>C
5g.96762344A>GCA360485002CAST,ERAP1c.824A>G (p.Gln275Arg)
c.1754A>G (p.Gln585Arg)
c.1532A>G (p.Gln511Arg)
c.1361A>G (p.Gln454Arg)
c.1646A>G (p.Gln549Arg)
c.1838A>G (p.Gln613Arg)
c.1904A>G (p.Gln635Arg)
c.285A>G
c.1806A>G
c.*1528A>G (n.*1528A>G)
c.621A>G
c.1517A>G (p.Gln506Arg)
c.1574A>G (p.Gln525Arg)
c.1793A>G (p.Gln598Arg)
n.448A>G
c.1448A>G (p.Gln483Arg)
c.*856T>C (n.*856T>C)
c.1589A>G (p.Gln530Arg)
c.1616A>G (p.Gln539Arg)
c.1655A>G (p.Gln552Arg)
n.1597A>G
c.1781A>G (p.Gln594Arg)
c.910A>G
c.882A>G
c.1439A>G (p.Gln480Arg)
c.800A>G (p.Gln267Arg)
c.1550A>G (p.Gln517Arg)
c.140A>G (p.Gln47Arg)
c.927A>G
c.1613A>G (p.Gln538Arg)
n.911A>G
c.1865A>G (p.Gln622Arg)
c.1859A>G (p.Gln620Arg)
c.1847A>G (p.Gln616Arg)
c.1802A>G (p.Gln601Arg)
c.1799A>G (p.Gln600Arg)
c.1736A>G (p.Gln579Arg)
c.1598A>G (p.Gln533Arg)
c.1493A>G (p.Gln498Arg)
c.1823A>G (p.Gln608Arg)
c.1820A>G (p.Gln607Arg)
c.1757A>G (p.Gln586Arg)
c.1712A>G (p.Gln571Arg)
c.1508A>G (p.Gln503Arg)
c.1808A>G (p.Gln603Arg)
c.1559A>G (p.Gln520Arg)
n.3841T>C
n.849A>G
5g.96762344A>TCA360485003CAST,ERAP1c.824A>T (p.Gln275Leu)
c.1754A>T (p.Gln585Leu)
c.1532A>T (p.Gln511Leu)
c.1361A>T (p.Gln454Leu)
c.1646A>T (p.Gln549Leu)
c.1838A>T (p.Gln613Leu)
c.1904A>T (p.Gln635Leu)
c.285A>T
c.1806A>T
c.*1528A>T (n.*1528A>T)
c.621A>T
c.1517A>T (p.Gln506Leu)
c.1574A>T (p.Gln525Leu)
c.1793A>T (p.Gln598Leu)
n.448A>T
c.1448A>T (p.Gln483Leu)
c.*856T>A (n.*856T>A)
c.1589A>T (p.Gln530Leu)
c.1616A>T (p.Gln539Leu)
c.1655A>T (p.Gln552Leu)
n.1597A>T
c.1781A>T (p.Gln594Leu)
c.910A>T
c.882A>T
c.1439A>T (p.Gln480Leu)
c.800A>T (p.Gln267Leu)
c.1550A>T (p.Gln517Leu)
c.140A>T (p.Gln47Leu)
c.927A>T
c.1613A>T (p.Gln538Leu)
n.911A>T
c.1865A>T (p.Gln622Leu)
c.1859A>T (p.Gln620Leu)
c.1847A>T (p.Gln616Leu)
c.1802A>T (p.Gln601Leu)
c.1799A>T (p.Gln600Leu)
c.1736A>T (p.Gln579Leu)
c.1598A>T (p.Gln533Leu)
c.1493A>T (p.Gln498Leu)
c.1823A>T (p.Gln608Leu)
c.1820A>T (p.Gln607Leu)
c.1757A>T (p.Gln586Leu)
c.1712A>T (p.Gln571Leu)
c.1508A>T (p.Gln503Leu)
c.1808A>T (p.Gln603Leu)
c.1559A>T (p.Gln520Leu)
n.3841T>A
n.849A>T
5g.96762345A>CCA360485004CAST,ERAP1c.825A>C (p.Gln275His)
c.1755A>C (p.Gln585His)
c.1533A>C (p.Gln511His)
c.1362A>C (p.Gln454His)
c.1647A>C (p.Gln549His)
c.1839A>C (p.Gln613His)
c.1905A>C (p.Gln635His)
c.286A>C
c.1807A>C
c.*1529A>C (n.*1529A>C)
c.622A>C
c.1518A>C (p.Gln506His)
c.1575A>C (p.Gln525His)
c.1794A>C (p.Gln598His)
n.449A>C
c.1449A>C (p.Gln483His)
c.*855T>G (n.*855T>G)
c.1590A>C (p.Gln530His)
c.1617A>C (p.Gln539His)
c.1656A>C (p.Gln552His)
n.1598A>C
c.1782A>C (p.Gln594His)
c.911A>C
c.883A>C
c.1440A>C (p.Gln480His)
c.801A>C (p.Gln267His)
c.1551A>C (p.Gln517His)
c.141A>C (p.Gln47His)
c.928A>C
c.1614A>C (p.Gln538His)
n.912A>C
c.1866A>C (p.Gln622His)
c.1860A>C (p.Gln620His)
c.1848A>C (p.Gln616His)
c.1803A>C (p.Gln601His)
c.1800A>C (p.Gln600His)
c.1737A>C (p.Gln579His)
c.1599A>C (p.Gln533His)
c.1494A>C (p.Gln498His)
c.1824A>C (p.Gln608His)
c.1821A>C (p.Gln607His)
c.1758A>C (p.Gln586His)
c.1713A>C (p.Gln571His)
c.1509A>C (p.Gln503His)
c.1809A>C (p.Gln603His)
c.1560A>C (p.Gln520His)
n.3840T>G
n.850A>C
5g.96762345A>GCA445511097CAST,ERAP1c.825A>G (p.Gln275=)
c.1755A>G (p.Gln585=)
c.1533A>G (p.Gln511=)
c.1362A>G (p.Gln454=)
c.1647A>G (p.Gln549=)
c.1839A>G (p.Gln613=)
c.1905A>G (p.Gln635=)
c.286A>G
c.1807A>G
c.*1529A>G (n.*1529A>G)
c.622A>G
c.1518A>G (p.Gln506=)
c.1575A>G (p.Gln525=)
c.1794A>G (p.Gln598=)
n.449A>G
c.1449A>G (p.Gln483=)
c.*855T>C (n.*855T>C)
c.1590A>G (p.Gln530=)
c.1617A>G (p.Gln539=)
c.1656A>G (p.Gln552=)
n.1598A>G
c.1782A>G (p.Gln594=)
c.911A>G
c.883A>G
c.1440A>G (p.Gln480=)
c.801A>G (p.Gln267=)
c.1551A>G (p.Gln517=)
c.141A>G (p.Gln47=)
c.928A>G
c.1614A>G (p.Gln538=)
n.912A>G
c.1866A>G (p.Gln622=)
c.1860A>G (p.Gln620=)
c.1848A>G (p.Gln616=)
c.1803A>G (p.Gln601=)
c.1800A>G (p.Gln600=)
c.1737A>G (p.Gln579=)
c.1599A>G (p.Gln533=)
c.1494A>G (p.Gln498=)
c.1824A>G (p.Gln608=)
c.1821A>G (p.Gln607=)
c.1758A>G (p.Gln586=)
c.1713A>G (p.Gln571=)
c.1509A>G (p.Gln503=)
c.1809A>G (p.Gln603=)
c.1560A>G (p.Gln520=)
n.3840T>C
n.850A>G
 gnomAD v4
5g.96762345A>TCA360485005CAST,ERAP1c.825A>T (p.Gln275His)
c.1755A>T (p.Gln585His)
c.1533A>T (p.Gln511His)
c.1362A>T (p.Gln454His)
c.1647A>T (p.Gln549His)
c.1839A>T (p.Gln613His)
c.1905A>T (p.Gln635His)
c.286A>T
c.1807A>T
c.*1529A>T (n.*1529A>T)
c.622A>T
c.1518A>T (p.Gln506His)
c.1575A>T (p.Gln525His)
c.1794A>T (p.Gln598His)
n.449A>T
c.1449A>T (p.Gln483His)
c.*855T>A (n.*855T>A)
c.1590A>T (p.Gln530His)
c.1617A>T (p.Gln539His)
c.1656A>T (p.Gln552His)
n.1598A>T
c.1782A>T (p.Gln594His)
c.911A>T
c.883A>T
c.1440A>T (p.Gln480His)
c.801A>T (p.Gln267His)
c.1551A>T (p.Gln517His)
c.141A>T (p.Gln47His)
c.928A>T
c.1614A>T (p.Gln538His)
n.912A>T
c.1866A>T (p.Gln622His)
c.1860A>T (p.Gln620His)
c.1848A>T (p.Gln616His)
c.1803A>T (p.Gln601His)
c.1800A>T (p.Gln600His)
c.1737A>T (p.Gln579His)
c.1599A>T (p.Gln533His)
c.1494A>T (p.Gln498His)
c.1824A>T (p.Gln608His)
c.1821A>T (p.Gln607His)
c.1758A>T (p.Gln586His)
c.1713A>T (p.Gln571His)
c.1509A>T (p.Gln503His)
c.1809A>T (p.Gln603His)
c.1560A>T (p.Gln520His)
n.3840T>A
n.850A>T
5g.96762346G>ACA360485006CAST,ERAP1c.826G>A (p.Ala276Thr)
c.1756G>A (p.Ala586Thr)
c.1534G>A (p.Ala512Thr)
c.1363G>A (p.Ala455Thr)
c.1648G>A (p.Ala550Thr)
c.1840G>A (p.Ala614Thr)
c.1906G>A (p.Ala636Thr)
c.287G>A
c.1808G>A
c.*1530G>A (n.*1530G>A)
c.623G>A
c.1519G>A (p.Ala507Thr)
c.1576G>A (p.Ala526Thr)
c.1795G>A (p.Ala599Thr)
n.450G>A
c.1450G>A (p.Ala484Thr)
c.*854C>T (n.*854C>T)
c.1591G>A (p.Ala531Thr)
c.1618G>A (p.Ala540Thr)
c.1657G>A (p.Ala553Thr)
n.1599G>A
c.1783G>A (p.Ala595Thr)
c.912G>A
c.884G>A
c.1441G>A (p.Ala481Thr)
c.802G>A (p.Ala268Thr)
c.1552G>A (p.Ala518Thr)
c.142G>A (p.Ala48Thr)
c.929G>A
c.1615G>A (p.Ala539Thr)
n.913G>A
c.1867G>A (p.Ala623Thr)
c.1861G>A (p.Ala621Thr)
c.1849G>A (p.Ala617Thr)
c.1804G>A (p.Ala602Thr)
c.1801G>A (p.Ala601Thr)
c.1738G>A (p.Ala580Thr)
c.1600G>A (p.Ala534Thr)
c.1495G>A (p.Ala499Thr)
c.1825G>A (p.Ala609Thr)
c.1822G>A (p.Ala608Thr)
c.1759G>A (p.Ala587Thr)
c.1714G>A (p.Ala572Thr)
c.1510G>A (p.Ala504Thr)
c.1810G>A (p.Ala604Thr)
c.1561G>A (p.Ala521Thr)
n.3839C>T
n.851G>A
5g.96762346G>CCA360485007CAST,ERAP1c.826G>C (p.Ala276Pro)
c.1756G>C (p.Ala586Pro)
c.1534G>C (p.Ala512Pro)
c.1363G>C (p.Ala455Pro)
c.1648G>C (p.Ala550Pro)
c.1840G>C (p.Ala614Pro)
c.1906G>C (p.Ala636Pro)
c.287G>C
c.1808G>C
c.*1530G>C (n.*1530G>C)
c.623G>C
c.1519G>C (p.Ala507Pro)
c.1576G>C (p.Ala526Pro)
c.1795G>C (p.Ala599Pro)
n.450G>C
c.1450G>C (p.Ala484Pro)
c.*854C>G (n.*854C>G)
c.1591G>C (p.Ala531Pro)
c.1618G>C (p.Ala540Pro)
c.1657G>C (p.Ala553Pro)
n.1599G>C
c.1783G>C (p.Ala595Pro)
c.912G>C
c.884G>C
c.1441G>C (p.Ala481Pro)
c.802G>C (p.Ala268Pro)
c.1552G>C (p.Ala518Pro)
c.142G>C (p.Ala48Pro)
c.929G>C
c.1615G>C (p.Ala539Pro)
n.913G>C
c.1867G>C (p.Ala623Pro)
c.1861G>C (p.Ala621Pro)
c.1849G>C (p.Ala617Pro)
c.1804G>C (p.Ala602Pro)
c.1801G>C (p.Ala601Pro)
c.1738G>C (p.Ala580Pro)
c.1600G>C (p.Ala534Pro)
c.1495G>C (p.Ala499Pro)
c.1825G>C (p.Ala609Pro)
c.1822G>C (p.Ala608Pro)
c.1759G>C (p.Ala587Pro)
c.1714G>C (p.Ala572Pro)
c.1510G>C (p.Ala504Pro)
c.1810G>C (p.Ala604Pro)
c.1561G>C (p.Ala521Pro)
n.3839C>G
n.851G>C
5g.96762346G>TCA360485008CAST,ERAP1c.826G>T (p.Ala276Ser)
c.1756G>T (p.Ala586Ser)
c.1534G>T (p.Ala512Ser)
c.1363G>T (p.Ala455Ser)
c.1648G>T (p.Ala550Ser)
c.1840G>T (p.Ala614Ser)
c.1906G>T (p.Ala636Ser)
c.287G>T
c.1808G>T
c.*1530G>T (n.*1530G>T)
c.623G>T
c.1519G>T (p.Ala507Ser)
c.1576G>T (p.Ala526Ser)
c.1795G>T (p.Ala599Ser)
n.450G>T
c.1450G>T (p.Ala484Ser)
c.*854C>A (n.*854C>A)
c.1591G>T (p.Ala531Ser)
c.1618G>T (p.Ala540Ser)
c.1657G>T (p.Ala553Ser)
n.1599G>T
c.1783G>T (p.Ala595Ser)
c.912G>T
c.884G>T
c.1441G>T (p.Ala481Ser)
c.802G>T (p.Ala268Ser)
c.1552G>T (p.Ala518Ser)
c.142G>T (p.Ala48Ser)
c.929G>T
c.1615G>T (p.Ala539Ser)
n.913G>T
c.1867G>T (p.Ala623Ser)
c.1861G>T (p.Ala621Ser)
c.1849G>T (p.Ala617Ser)
c.1804G>T (p.Ala602Ser)
c.1801G>T (p.Ala601Ser)
c.1738G>T (p.Ala580Ser)
c.1600G>T (p.Ala534Ser)
c.1495G>T (p.Ala499Ser)
c.1825G>T (p.Ala609Ser)
c.1822G>T (p.Ala608Ser)
c.1759G>T (p.Ala587Ser)
c.1714G>T (p.Ala572Ser)
c.1510G>T (p.Ala504Ser)
c.1810G>T (p.Ala604Ser)
c.1561G>T (p.Ala521Ser)
n.3839C>A
n.851G>T
5g.96762347_96762349dupCA2767562494CAST,ERAP1c.827_829dup (p.Ala276_Gly277insAla)
c.1757_1759dup (p.Ala586_Gly587insAla)
c.1535_1537dup (p.Ala512_Gly513insAla)
c.1364_1366dup (p.Ala455_Gly456insAla)
c.1649_1651dup (p.Ala550_Gly551insAla)
c.1841_1843dup (p.Ala614_Gly615insAla)
c.1907_1909dup (p.Ala636_Gly637insAla)
c.288_290dup
c.1809_1811dup
c.*1531_*1533dup (n.*1531_*1533dup)
c.624_626dup
c.1520_1522dup (p.Ala507_Gly508insAla)
c.1577_1579dup (p.Ala526_Gly527insAla)
c.1796_1798dup (p.Ala599_Gly600insAla)
n.451_453dup
c.1451_1453dup (p.Ala484_Gly485insAla)
c.*852_*854dup (n.*852_*854dup)
c.1592_1594dup (p.Ala531_Gly532insAla)
c.1619_1621dup (p.Ala540_Gly541insAla)
c.1658_1660dup (p.Ala553_Gly554insAla)
n.1600_1602dup
c.1784_1786dup (p.Ala595_Gly596insAla)
c.913_915dup
c.885_887dup
c.1442_1444dup (p.Ala481_Gly482insAla)
c.803_805dup (p.Ala268_Gly269insAla)
c.1553_1555dup (p.Ala518_Gly519insAla)
c.143_145dup (p.Ala48_Gly49insAla)
c.930_932dup
c.1616_1618dup (p.Ala539_Gly540insAla)
n.914_916dup
c.1868_1870dup (p.Ala623_Gly624insAla)
c.1862_1864dup (p.Ala621_Gly622insAla)
c.1850_1852dup (p.Ala617_Gly618insAla)
c.1805_1807dup (p.Ala602_Gly603insAla)
c.1802_1804dup (p.Ala601_Gly602insAla)
c.1739_1741dup (p.Ala580_Gly581insAla)
c.1601_1603dup (p.Ala534_Gly535insAla)
c.1496_1498dup (p.Ala499_Gly500insAla)
c.1826_1828dup (p.Ala609_Gly610insAla)
c.1823_1825dup (p.Ala608_Gly609insAla)
c.1760_1762dup (p.Ala587_Gly588insAla)
c.1715_1717dup (p.Ala572_Gly573insAla)
c.1511_1513dup (p.Ala504_Gly505insAla)
c.1811_1813dup (p.Ala604_Gly605insAla)
c.1562_1564dup (p.Ala521_Gly522insAla)
n.3837_3839dup
n.852_854dup
5g.96762347C>ACA360485010CAST,ERAP1c.827C>A (p.Ala276Asp)
c.1757C>A (p.Ala586Asp)
c.1535C>A (p.Ala512Asp)
c.1364C>A (p.Ala455Asp)
c.1649C>A (p.Ala550Asp)
c.1841C>A (p.Ala614Asp)
c.1907C>A (p.Ala636Asp)
c.288C>A
c.1809C>A
c.*1531C>A (n.*1531C>A)
c.624C>A
c.1520C>A (p.Ala507Asp)
c.1577C>A (p.Ala526Asp)
c.1796C>A (p.Ala599Asp)
n.451C>A
c.1451C>A (p.Ala484Asp)
c.*853G>T (n.*853G>T)
c.1592C>A (p.Ala531Asp)
c.1619C>A (p.Ala540Asp)
c.1658C>A (p.Ala553Asp)
n.1600C>A
c.1784C>A (p.Ala595Asp)
c.913C>A
c.885C>A
c.1442C>A (p.Ala481Asp)
c.803C>A (p.Ala268Asp)
c.1553C>A (p.Ala518Asp)
c.143C>A (p.Ala48Asp)
c.930C>A
c.1616C>A (p.Ala539Asp)
n.914C>A
c.1868C>A (p.Ala623Asp)
c.1862C>A (p.Ala621Asp)
c.1850C>A (p.Ala617Asp)
c.1805C>A (p.Ala602Asp)
c.1802C>A (p.Ala601Asp)
c.1739C>A (p.Ala580Asp)
c.1601C>A (p.Ala534Asp)
c.1496C>A (p.Ala499Asp)
c.1826C>A (p.Ala609Asp)
c.1823C>A (p.Ala608Asp)
c.1760C>A (p.Ala587Asp)
c.1715C>A (p.Ala572Asp)
c.1511C>A (p.Ala504Asp)
c.1811C>A (p.Ala604Asp)
c.1562C>A (p.Ala521Asp)
n.3838G>T
n.852C>A
5g.96762347C=CA1565569297CAST,ERAP1c.827C= (p.Ala276=)
c.1757C= (p.Ala586=)
c.1535C= (p.Ala512=)
c.1364C= (p.Ala455=)
c.1649C= (p.Ala550=)
c.1841C= (p.Ala614=)
c.1907C= (p.Ala636=)
c.288C=
c.1809C=
c.*1531C= (n.*1531C=)
c.624C=
c.1520C= (p.Ala507=)
c.1577C= (p.Ala526=)
c.1796C= (p.Ala599=)
n.451C=
c.1451C= (p.Ala484=)
c.*853G= (n.*853G=)
c.1592C= (p.Ala531=)
c.1619C= (p.Ala540=)
c.1658C= (p.Ala553=)
n.1600C=
c.1784C= (p.Ala595=)
c.913C=
c.885C=
c.1442C= (p.Ala481=)
c.803C= (p.Ala268=)
c.1553C= (p.Ala518=)
c.143C= (p.Ala48=)
c.930C=
c.1616C= (p.Ala539=)
n.914C=
c.1868C= (p.Ala623=)
c.1862C= (p.Ala621=)
c.1850C= (p.Ala617=)
c.1805C= (p.Ala602=)
c.1802C= (p.Ala601=)
c.1739C= (p.Ala580=)
c.1601C= (p.Ala534=)
c.1496C= (p.Ala499=)
c.1826C= (p.Ala609=)
c.1823C= (p.Ala608=)
c.1760C= (p.Ala587=)
c.1715C= (p.Ala572=)
c.1511C= (p.Ala504=)
c.1811C= (p.Ala604=)
c.1562C= (p.Ala521=)
n.3838G=
n.852C=
5g.96762347C>GCA3351514CAST,ERAP1c.827C>G (p.Ala276Gly)
c.1757C>G (p.Ala586Gly)
c.1535C>G (p.Ala512Gly)
c.1364C>G (p.Ala455Gly)
c.1649C>G (p.Ala550Gly)
c.1841C>G (p.Ala614Gly)
c.1907C>G (p.Ala636Gly)
c.288C>G
c.1809C>G
c.*1531C>G (n.*1531C>G)
c.624C>G
c.1520C>G (p.Ala507Gly)
c.1577C>G (p.Ala526Gly)
c.1796C>G (p.Ala599Gly)
n.451C>G
c.1451C>G (p.Ala484Gly)
c.*853G>C (n.*853G>C)
c.1592C>G (p.Ala531Gly)
c.1619C>G (p.Ala540Gly)
c.1658C>G (p.Ala553Gly)
n.1600C>G
c.1784C>G (p.Ala595Gly)
c.913C>G
c.885C>G
c.1442C>G (p.Ala481Gly)
c.803C>G (p.Ala268Gly)
c.1553C>G (p.Ala518Gly)
c.143C>G (p.Ala48Gly)
c.930C>G
c.1616C>G (p.Ala539Gly)
n.914C>G
c.1868C>G (p.Ala623Gly)
c.1862C>G (p.Ala621Gly)
c.1850C>G (p.Ala617Gly)
c.1805C>G (p.Ala602Gly)
c.1802C>G (p.Ala601Gly)
c.1739C>G (p.Ala580Gly)
c.1601C>G (p.Ala534Gly)
c.1496C>G (p.Ala499Gly)
c.1826C>G (p.Ala609Gly)
c.1823C>G (p.Ala608Gly)
c.1760C>G (p.Ala587Gly)
c.1715C>G (p.Ala572Gly)
c.1511C>G (p.Ala504Gly)
c.1811C>G (p.Ala604Gly)
c.1562C>G (p.Ala521Gly)
n.3838G>C
n.852C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762347C>TCA360485009CAST,ERAP1c.827C>T (p.Ala276Val)
c.1757C>T (p.Ala586Val)
c.1535C>T (p.Ala512Val)
c.1364C>T (p.Ala455Val)
c.1649C>T (p.Ala550Val)
c.1841C>T (p.Ala614Val)
c.1907C>T (p.Ala636Val)
c.288C>T
c.1809C>T
c.*1531C>T (n.*1531C>T)
c.624C>T
c.1520C>T (p.Ala507Val)
c.1577C>T (p.Ala526Val)
c.1796C>T (p.Ala599Val)
n.451C>T
c.1451C>T (p.Ala484Val)
c.*853G>A (n.*853G>A)
c.1592C>T (p.Ala531Val)
c.1619C>T (p.Ala540Val)
c.1658C>T (p.Ala553Val)
n.1600C>T
c.1784C>T (p.Ala595Val)
c.913C>T
c.885C>T
c.1442C>T (p.Ala481Val)
c.803C>T (p.Ala268Val)
c.1553C>T (p.Ala518Val)
c.143C>T (p.Ala48Val)
c.930C>T
c.1616C>T (p.Ala539Val)
n.914C>T
c.1868C>T (p.Ala623Val)
c.1862C>T (p.Ala621Val)
c.1850C>T (p.Ala617Val)
c.1805C>T (p.Ala602Val)
c.1802C>T (p.Ala601Val)
c.1739C>T (p.Ala580Val)
c.1601C>T (p.Ala534Val)
c.1496C>T (p.Ala499Val)
c.1826C>T (p.Ala609Val)
c.1823C>T (p.Ala608Val)
c.1760C>T (p.Ala587Val)
c.1715C>T (p.Ala572Val)
c.1511C>T (p.Ala504Val)
c.1811C>T (p.Ala604Val)
c.1562C>T (p.Ala521Val)
n.3838G>A
n.852C>T
5g.96762348T>ACA445511100CAST,ERAP1c.828T>A (p.Ala276=)
c.1758T>A (p.Ala586=)
c.1536T>A (p.Ala512=)
c.1365T>A (p.Ala455=)
c.1650T>A (p.Ala550=)
c.1842T>A (p.Ala614=)
c.1908T>A (p.Ala636=)
c.289T>A
c.1810T>A
c.*1532T>A (n.*1532T>A)
c.625T>A
c.1521T>A (p.Ala507=)
c.1578T>A (p.Ala526=)
c.1797T>A (p.Ala599=)
n.452T>A
c.1452T>A (p.Ala484=)
c.*852A>T (n.*852A>T)
c.1593T>A (p.Ala531=)
c.1620T>A (p.Ala540=)
c.1659T>A (p.Ala553=)
n.1601T>A
c.1785T>A (p.Ala595=)
c.914T>A
c.886T>A
c.1443T>A (p.Ala481=)
c.804T>A (p.Ala268=)
c.1554T>A (p.Ala518=)
c.144T>A (p.Ala48=)
c.931T>A
c.1617T>A (p.Ala539=)
n.915T>A
c.1869T>A (p.Ala623=)
c.1863T>A (p.Ala621=)
c.1851T>A (p.Ala617=)
c.1806T>A (p.Ala602=)
c.1803T>A (p.Ala601=)
c.1740T>A (p.Ala580=)
c.1602T>A (p.Ala534=)
c.1497T>A (p.Ala499=)
c.1827T>A (p.Ala609=)
c.1824T>A (p.Ala608=)
c.1761T>A (p.Ala587=)
c.1716T>A (p.Ala572=)
c.1512T>A (p.Ala504=)
c.1812T>A (p.Ala604=)
c.1563T>A (p.Ala521=)
n.3837A>T
n.853T>A
5g.96762348T>CCA445511102CAST,ERAP1c.828T>C (p.Ala276=)
c.1758T>C (p.Ala586=)
c.1536T>C (p.Ala512=)
c.1365T>C (p.Ala455=)
c.1650T>C (p.Ala550=)
c.1842T>C (p.Ala614=)
c.1908T>C (p.Ala636=)
c.289T>C
c.1810T>C
c.*1532T>C (n.*1532T>C)
c.625T>C
c.1521T>C (p.Ala507=)
c.1578T>C (p.Ala526=)
c.1797T>C (p.Ala599=)
n.452T>C
c.1452T>C (p.Ala484=)
c.*852A>G (n.*852A>G)
c.1593T>C (p.Ala531=)
c.1620T>C (p.Ala540=)
c.1659T>C (p.Ala553=)
n.1601T>C
c.1785T>C (p.Ala595=)
c.914T>C
c.886T>C
c.1443T>C (p.Ala481=)
c.804T>C (p.Ala268=)
c.1554T>C (p.Ala518=)
c.144T>C (p.Ala48=)
c.931T>C
c.1617T>C (p.Ala539=)
n.915T>C
c.1869T>C (p.Ala623=)
c.1863T>C (p.Ala621=)
c.1851T>C (p.Ala617=)
c.1806T>C (p.Ala602=)
c.1803T>C (p.Ala601=)
c.1740T>C (p.Ala580=)
c.1602T>C (p.Ala534=)
c.1497T>C (p.Ala499=)
c.1827T>C (p.Ala609=)
c.1824T>C (p.Ala608=)
c.1761T>C (p.Ala587=)
c.1716T>C (p.Ala572=)
c.1512T>C (p.Ala504=)
c.1812T>C (p.Ala604=)
c.1563T>C (p.Ala521=)
n.3837A>G
n.853T>C
 gnomAD v4
5g.96762348T>GCA445511103CAST,ERAP1c.828T>G (p.Ala276=)
c.1758T>G (p.Ala586=)
c.1536T>G (p.Ala512=)
c.1365T>G (p.Ala455=)
c.1650T>G (p.Ala550=)
c.1842T>G (p.Ala614=)
c.1908T>G (p.Ala636=)
c.289T>G
c.1810T>G
c.*1532T>G (n.*1532T>G)
c.625T>G
c.1521T>G (p.Ala507=)
c.1578T>G (p.Ala526=)
c.1797T>G (p.Ala599=)
n.452T>G
c.1452T>G (p.Ala484=)
c.*852A>C (n.*852A>C)
c.1593T>G (p.Ala531=)
c.1620T>G (p.Ala540=)
c.1659T>G (p.Ala553=)
n.1601T>G
c.1785T>G (p.Ala595=)
c.914T>G
c.886T>G
c.1443T>G (p.Ala481=)
c.804T>G (p.Ala268=)
c.1554T>G (p.Ala518=)
c.144T>G (p.Ala48=)
c.931T>G
c.1617T>G (p.Ala539=)
n.915T>G
c.1869T>G (p.Ala623=)
c.1863T>G (p.Ala621=)
c.1851T>G (p.Ala617=)
c.1806T>G (p.Ala602=)
c.1803T>G (p.Ala601=)
c.1740T>G (p.Ala580=)
c.1602T>G (p.Ala534=)
c.1497T>G (p.Ala499=)
c.1827T>G (p.Ala609=)
c.1824T>G (p.Ala608=)
c.1761T>G (p.Ala587=)
c.1716T>G (p.Ala572=)
c.1512T>G (p.Ala504=)
c.1812T>G (p.Ala604=)
c.1563T>G (p.Ala521=)
n.3837A>C
n.853T>G
5g.96762349G>ACA360485011CAST,ERAP1c.829G>A (p.Gly277Arg)
c.1759G>A (p.Gly587Arg)
c.1537G>A (p.Gly513Arg)
c.1366G>A (p.Gly456Arg)
c.1651G>A (p.Gly551Arg)
c.1843G>A (p.Gly615Arg)
c.1909G>A (p.Gly637Arg)
c.290G>A
c.1811G>A
c.*1533G>A (n.*1533G>A)
c.626G>A
c.1522G>A (p.Gly508Arg)
c.1579G>A (p.Gly527Arg)
c.1798G>A (p.Gly600Arg)
n.453G>A
c.1453G>A (p.Gly485Arg)
c.*851C>T (n.*851C>T)
c.1594G>A (p.Gly532Arg)
c.1621G>A (p.Gly541Arg)
c.1660G>A (p.Gly554Arg)
n.1602G>A
c.1786G>A (p.Gly596Arg)
c.915G>A
c.887G>A
c.1444G>A (p.Gly482Arg)
c.805G>A (p.Gly269Arg)
c.1555G>A (p.Gly519Arg)
c.145G>A (p.Gly49Arg)
c.932G>A
c.1618G>A (p.Gly540Arg)
n.916G>A
c.1870G>A (p.Gly624Arg)
c.1864G>A (p.Gly622Arg)
c.1852G>A (p.Gly618Arg)
c.1807G>A (p.Gly603Arg)
c.1804G>A (p.Gly602Arg)
c.1741G>A (p.Gly581Arg)
c.1603G>A (p.Gly535Arg)
c.1498G>A (p.Gly500Arg)
c.1828G>A (p.Gly610Arg)
c.1825G>A (p.Gly609Arg)
c.1762G>A (p.Gly588Arg)
c.1717G>A (p.Gly573Arg)
c.1513G>A (p.Gly505Arg)
c.1813G>A (p.Gly605Arg)
c.1564G>A (p.Gly522Arg)
n.3836C>T
n.854G>A
 gnomAD v4
5g.96762349G>CCA360485012CAST,ERAP1c.829G>C (p.Gly277Arg)
c.1759G>C (p.Gly587Arg)
c.1537G>C (p.Gly513Arg)
c.1366G>C (p.Gly456Arg)
c.1651G>C (p.Gly551Arg)
c.1843G>C (p.Gly615Arg)
c.1909G>C (p.Gly637Arg)
c.290G>C
c.1811G>C
c.*1533G>C (n.*1533G>C)
c.626G>C
c.1522G>C (p.Gly508Arg)
c.1579G>C (p.Gly527Arg)
c.1798G>C (p.Gly600Arg)
n.453G>C
c.1453G>C (p.Gly485Arg)
c.*851C>G (n.*851C>G)
c.1594G>C (p.Gly532Arg)
c.1621G>C (p.Gly541Arg)
c.1660G>C (p.Gly554Arg)
n.1602G>C
c.1786G>C (p.Gly596Arg)
c.915G>C
c.887G>C
c.1444G>C (p.Gly482Arg)
c.805G>C (p.Gly269Arg)
c.1555G>C (p.Gly519Arg)
c.145G>C (p.Gly49Arg)
c.932G>C
c.1618G>C (p.Gly540Arg)
n.916G>C
c.1870G>C (p.Gly624Arg)
c.1864G>C (p.Gly622Arg)
c.1852G>C (p.Gly618Arg)
c.1807G>C (p.Gly603Arg)
c.1804G>C (p.Gly602Arg)
c.1741G>C (p.Gly581Arg)
c.1603G>C (p.Gly535Arg)
c.1498G>C (p.Gly500Arg)
c.1828G>C (p.Gly610Arg)
c.1825G>C (p.Gly609Arg)
c.1762G>C (p.Gly588Arg)
c.1717G>C (p.Gly573Arg)
c.1513G>C (p.Gly505Arg)
c.1813G>C (p.Gly605Arg)
c.1564G>C (p.Gly522Arg)
n.3836C>G
n.854G>C
5g.96762349G>TCA360485013CAST,ERAP1c.829G>T (p.Gly277Ter)
c.1759G>T (p.Gly587Ter)
c.1537G>T (p.Gly513Ter)
c.1366G>T (p.Gly456Ter)
c.1651G>T (p.Gly551Ter)
c.1843G>T (p.Gly615Ter)
c.1909G>T (p.Gly637Ter)
c.290G>T
c.1811G>T
c.*1533G>T (n.*1533G>T)
c.626G>T
c.1522G>T (p.Gly508Ter)
c.1579G>T (p.Gly527Ter)
c.1798G>T (p.Gly600Ter)
n.453G>T
c.1453G>T (p.Gly485Ter)
c.*851C>A (n.*851C>A)
c.1594G>T (p.Gly532Ter)
c.1621G>T (p.Gly541Ter)
c.1660G>T (p.Gly554Ter)
n.1602G>T
c.1786G>T (p.Gly596Ter)
c.915G>T
c.887G>T
c.1444G>T (p.Gly482Ter)
c.805G>T (p.Gly269Ter)
c.1555G>T (p.Gly519Ter)
c.145G>T (p.Gly49Ter)
c.932G>T
c.1618G>T (p.Gly540Ter)
n.916G>T
c.1870G>T (p.Gly624Ter)
c.1864G>T (p.Gly622Ter)
c.1852G>T (p.Gly618Ter)
c.1807G>T (p.Gly603Ter)
c.1804G>T (p.Gly602Ter)
c.1741G>T (p.Gly581Ter)
c.1603G>T (p.Gly535Ter)
c.1498G>T (p.Gly500Ter)
c.1828G>T (p.Gly610Ter)
c.1825G>T (p.Gly609Ter)
c.1762G>T (p.Gly588Ter)
c.1717G>T (p.Gly573Ter)
c.1513G>T (p.Gly505Ter)
c.1813G>T (p.Gly605Ter)
c.1564G>T (p.Gly522Ter)
n.3836C>A
n.854G>T
5g.96762350G>ACA360485014CAST,ERAP1c.830G>A (p.Gly277Glu)
c.1760G>A (p.Gly587Glu)
c.1538G>A (p.Gly513Glu)
c.1367G>A (p.Gly456Glu)
c.1652G>A (p.Gly551Glu)
c.1844G>A (p.Gly615Glu)
c.1910G>A (p.Gly637Glu)
c.291G>A
c.1812G>A
c.*1534G>A (n.*1534G>A)
c.627G>A
c.1523G>A (p.Gly508Glu)
c.1580G>A (p.Gly527Glu)
c.1799G>A (p.Gly600Glu)
n.454G>A
c.1454G>A (p.Gly485Glu)
c.*850C>T (n.*850C>T)
c.1595G>A (p.Gly532Glu)
c.1622G>A (p.Gly541Glu)
c.1661G>A (p.Gly554Glu)
n.1603G>A
c.1787G>A (p.Gly596Glu)
c.916G>A
c.888G>A
c.1445G>A (p.Gly482Glu)
c.806G>A (p.Gly269Glu)
c.1556G>A (p.Gly519Glu)
c.146G>A (p.Gly49Glu)
c.933G>A
c.1619G>A (p.Gly540Glu)
n.917G>A
c.1871G>A (p.Gly624Glu)
c.1865G>A (p.Gly622Glu)
c.1853G>A (p.Gly618Glu)
c.1808G>A (p.Gly603Glu)
c.1805G>A (p.Gly602Glu)
c.1742G>A (p.Gly581Glu)
c.1604G>A (p.Gly535Glu)
c.1499G>A (p.Gly500Glu)
c.1829G>A (p.Gly610Glu)
c.1826G>A (p.Gly609Glu)
c.1763G>A (p.Gly588Glu)
c.1718G>A (p.Gly573Glu)
c.1514G>A (p.Gly505Glu)
c.1814G>A (p.Gly605Glu)
c.1565G>A (p.Gly522Glu)
n.3835C>T
n.855G>A
5g.96762350G>CCA3351515CAST,ERAP1c.830G>C (p.Gly277Ala)
c.1760G>C (p.Gly587Ala)
c.1538G>C (p.Gly513Ala)
c.1367G>C (p.Gly456Ala)
c.1652G>C (p.Gly551Ala)
c.1844G>C (p.Gly615Ala)
c.1910G>C (p.Gly637Ala)
c.291G>C
c.1812G>C
c.*1534G>C (n.*1534G>C)
c.627G>C
c.1523G>C (p.Gly508Ala)
c.1580G>C (p.Gly527Ala)
c.1799G>C (p.Gly600Ala)
n.454G>C
c.1454G>C (p.Gly485Ala)
c.*850C>G (n.*850C>G)
c.1595G>C (p.Gly532Ala)
c.1622G>C (p.Gly541Ala)
c.1661G>C (p.Gly554Ala)
n.1603G>C
c.1787G>C (p.Gly596Ala)
c.916G>C
c.888G>C
c.1445G>C (p.Gly482Ala)
c.806G>C (p.Gly269Ala)
c.1556G>C (p.Gly519Ala)
c.146G>C (p.Gly49Ala)
c.933G>C
c.1619G>C (p.Gly540Ala)
n.917G>C
c.1871G>C (p.Gly624Ala)
c.1865G>C (p.Gly622Ala)
c.1853G>C (p.Gly618Ala)
c.1808G>C (p.Gly603Ala)
c.1805G>C (p.Gly602Ala)
c.1742G>C (p.Gly581Ala)
c.1604G>C (p.Gly535Ala)
c.1499G>C (p.Gly500Ala)
c.1829G>C (p.Gly610Ala)
c.1826G>C (p.Gly609Ala)
c.1763G>C (p.Gly588Ala)
c.1718G>C (p.Gly573Ala)
c.1514G>C (p.Gly505Ala)
c.1814G>C (p.Gly605Ala)
c.1565G>C (p.Gly522Ala)
n.3835C>G
n.855G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.96762350G=CA1565569298CAST,ERAP1c.830G= (p.Gly277=)
c.1760G= (p.Gly587=)
c.1538G= (p.Gly513=)
c.1367G= (p.Gly456=)
c.1652G= (p.Gly551=)
c.1844G= (p.Gly615=)
c.1910G= (p.Gly637=)
c.291G=
c.1812G=
c.*1534G= (n.*1534G=)
c.627G=
c.1523G= (p.Gly508=)
c.1580G= (p.Gly527=)
c.1799G= (p.Gly600=)
n.454G=
c.1454G= (p.Gly485=)
c.*850C= (n.*850C=)
c.1595G= (p.Gly532=)
c.1622G= (p.Gly541=)
c.1661G= (p.Gly554=)
n.1603G=
c.1787G= (p.Gly596=)
c.916G=
c.888G=
c.1445G= (p.Gly482=)
c.806G= (p.Gly269=)
c.1556G= (p.Gly519=)
c.146G= (p.Gly49=)
c.933G=
c.1619G= (p.Gly540=)
n.917G=
c.1871G= (p.Gly624=)
c.1865G= (p.Gly622=)
c.1853G= (p.Gly618=)
c.1808G= (p.Gly603=)
c.1805G= (p.Gly602=)
c.1742G= (p.Gly581=)
c.1604G= (p.Gly535=)
c.1499G= (p.Gly500=)
c.1829G= (p.Gly610=)
c.1826G= (p.Gly609=)
c.1763G= (p.Gly588=)
c.1718G= (p.Gly573=)
c.1514G= (p.Gly505=)
c.1814G= (p.Gly605=)
c.1565G= (p.Gly522=)
n.3835C=
n.855G=
5g.96762350G>TCA360485015CAST,ERAP1c.830G>T (p.Gly277Val)
c.1760G>T (p.Gly587Val)
c.1538G>T (p.Gly513Val)
c.1367G>T (p.Gly456Val)
c.1652G>T (p.Gly551Val)
c.1844G>T (p.Gly615Val)
c.1910G>T (p.Gly637Val)
c.291G>T
c.1812G>T
c.*1534G>T (n.*1534G>T)
c.627G>T
c.1523G>T (p.Gly508Val)
c.1580G>T (p.Gly527Val)
c.1799G>T (p.Gly600Val)
n.454G>T
c.1454G>T (p.Gly485Val)
c.*850C>A (n.*850C>A)
c.1595G>T (p.Gly532Val)
c.1622G>T (p.Gly541Val)
c.1661G>T (p.Gly554Val)
n.1603G>T
c.1787G>T (p.Gly596Val)
c.916G>T
c.888G>T
c.1445G>T (p.Gly482Val)
c.806G>T (p.Gly269Val)
c.1556G>T (p.Gly519Val)
c.146G>T (p.Gly49Val)
c.933G>T
c.1619G>T (p.Gly540Val)
n.917G>T
c.1871G>T (p.Gly624Val)
c.1865G>T (p.Gly622Val)
c.1853G>T (p.Gly618Val)
c.1808G>T (p.Gly603Val)
c.1805G>T (p.Gly602Val)
c.1742G>T (p.Gly581Val)
c.1604G>T (p.Gly535Val)
c.1499G>T (p.Gly500Val)
c.1829G>T (p.Gly610Val)
c.1826G>T (p.Gly609Val)
c.1763G>T (p.Gly588Val)
c.1718G>T (p.Gly573Val)
c.1514G>T (p.Gly505Val)
c.1814G>T (p.Gly605Val)
c.1565G>T (p.Gly522Val)
n.3835C>A
n.855G>T
5g.96762351A>CCA445511107CAST,ERAP1c.831A>C (p.Gly277=)
c.1761A>C (p.Gly587=)
c.1539A>C (p.Gly513=)
c.1368A>C (p.Gly456=)
c.1653A>C (p.Gly551=)
c.1845A>C (p.Gly615=)
c.1911A>C (p.Gly637=)
c.292A>C
c.1813A>C
c.*1535A>C (n.*1535A>C)
c.628A>C
c.1524A>C (p.Gly508=)
c.1581A>C (p.Gly527=)
c.1800A>C (p.Gly600=)
n.455A>C
c.1455A>C (p.Gly485=)
c.*849T>G (n.*849T>G)
c.1596A>C (p.Gly532=)
c.1623A>C (p.Gly541=)
c.1662A>C (p.Gly554=)
n.1604A>C
c.1788A>C (p.Gly596=)
c.917A>C
c.889A>C
c.1446A>C (p.Gly482=)
c.807A>C (p.Gly269=)
c.1557A>C (p.Gly519=)
c.147A>C (p.Gly49=)
c.934A>C
c.1620A>C (p.Gly540=)
n.918A>C
c.1872A>C (p.Gly624=)
c.1866A>C (p.Gly622=)
c.1854A>C (p.Gly618=)
c.1809A>C (p.Gly603=)
c.1806A>C (p.Gly602=)
c.1743A>C (p.Gly581=)
c.1605A>C (p.Gly535=)
c.1500A>C (p.Gly500=)
c.1830A>C (p.Gly610=)
c.1827A>C (p.Gly609=)
c.1764A>C (p.Gly588=)
c.1719A>C (p.Gly573=)
c.1515A>C (p.Gly505=)
c.1815A>C (p.Gly605=)
c.1566A>C (p.Gly522=)
n.3834T>G
n.856A>C
5g.96762351A>GCA445511108CAST,ERAP1c.831A>G (p.Gly277=)
c.1761A>G (p.Gly587=)
c.1539A>G (p.Gly513=)
c.1368A>G (p.Gly456=)
c.1653A>G (p.Gly551=)
c.1845A>G (p.Gly615=)
c.1911A>G (p.Gly637=)
c.292A>G
c.1813A>G
c.*1535A>G (n.*1535A>G)
c.628A>G
c.1524A>G (p.Gly508=)
c.1581A>G (p.Gly527=)
c.1800A>G (p.Gly600=)
n.455A>G
c.1455A>G (p.Gly485=)
c.*849T>C (n.*849T>C)
c.1596A>G (p.Gly532=)
c.1623A>G (p.Gly541=)
c.1662A>G (p.Gly554=)
n.1604A>G
c.1788A>G (p.Gly596=)
c.917A>G
c.889A>G
c.1446A>G (p.Gly482=)
c.807A>G (p.Gly269=)
c.1557A>G (p.Gly519=)
c.147A>G (p.Gly49=)
c.934A>G
c.1620A>G (p.Gly540=)
n.918A>G
c.1872A>G (p.Gly624=)
c.1866A>G (p.Gly622=)
c.1854A>G (p.Gly618=)
c.1809A>G (p.Gly603=)
c.1806A>G (p.Gly602=)
c.1743A>G (p.Gly581=)
c.1605A>G (p.Gly535=)
c.1500A>G (p.Gly500=)
c.1830A>G (p.Gly610=)
c.1827A>G (p.Gly609=)
c.1764A>G (p.Gly588=)
c.1719A>G (p.Gly573=)
c.1515A>G (p.Gly505=)
c.1815A>G (p.Gly605=)
c.1566A>G (p.Gly522=)
n.3834T>C
n.856A>G
 gnomAD v4
5g.96762351A>TCA445511109CAST,ERAP1c.831A>T (p.Gly277=)
c.1761A>T (p.Gly587=)
c.1539A>T (p.Gly513=)
c.1368A>T (p.Gly456=)
c.1653A>T (p.Gly551=)
c.1845A>T (p.Gly615=)
c.1911A>T (p.Gly637=)
c.292A>T
c.1813A>T
c.*1535A>T (n.*1535A>T)
c.628A>T
c.1524A>T (p.Gly508=)
c.1581A>T (p.Gly527=)
c.1800A>T (p.Gly600=)
n.455A>T
c.1455A>T (p.Gly485=)
c.*849T>A (n.*849T>A)
c.1596A>T (p.Gly532=)
c.1623A>T (p.Gly541=)
c.1662A>T (p.Gly554=)
n.1604A>T
c.1788A>T (p.Gly596=)
c.917A>T
c.889A>T
c.1446A>T (p.Gly482=)
c.807A>T (p.Gly269=)
c.1557A>T (p.Gly519=)
c.147A>T (p.Gly49=)
c.934A>T
c.1620A>T (p.Gly540=)
n.918A>T
c.1872A>T (p.Gly624=)
c.1866A>T (p.Gly622=)
c.1854A>T (p.Gly618=)
c.1809A>T (p.Gly603=)
c.1806A>T (p.Gly602=)
c.1743A>T (p.Gly581=)
c.1605A>T (p.Gly535=)
c.1500A>T (p.Gly500=)
c.1830A>T (p.Gly610=)
c.1827A>T (p.Gly609=)
c.1764A>T (p.Gly588=)
c.1719A>T (p.Gly573=)
c.1515A>T (p.Gly505=)
c.1815A>T (p.Gly605=)
c.1566A>T (p.Gly522=)
n.3834T>A
n.856A>T
5g.96762352G>ACA360485016CAST,ERAP1c.832G>A (p.Ala278Thr)
c.1762G>A (p.Ala588Thr)
c.1540G>A (p.Ala514Thr)
c.1369G>A (p.Ala457Thr)
c.1654G>A (p.Ala552Thr)
c.1846G>A (p.Ala616Thr)
c.1912G>A (p.Ala638Thr)
c.293G>A
c.1814G>A
c.*1536G>A (n.*1536G>A)
c.629G>A
c.1525G>A (p.Ala509Thr)
c.1582G>A (p.Ala528Thr)
c.1801G>A (p.Ala601Thr)
n.456G>A
c.1456G>A (p.Ala486Thr)
c.*848C>T (n.*848C>T)
c.1597G>A (p.Ala533Thr)
c.1624G>A (p.Ala542Thr)
c.1663G>A (p.Ala555Thr)
n.1605G>A
c.1789G>A (p.Ala597Thr)
c.918G>A
c.890G>A
c.1447G>A (p.Ala483Thr)
c.808G>A (p.Ala270Thr)
c.1558G>A (p.Ala520Thr)
c.148G>A (p.Ala50Thr)
c.935G>A
c.1621G>A (p.Ala541Thr)
n.919G>A
c.1873G>A (p.Ala625Thr)
c.1867G>A (p.Ala623Thr)
c.1855G>A (p.Ala619Thr)
c.1810G>A (p.Ala604Thr)
c.1807G>A (p.Ala603Thr)
c.1744G>A (p.Ala582Thr)
c.1606G>A (p.Ala536Thr)
c.1501G>A (p.Ala501Thr)
c.1831G>A (p.Ala611Thr)
c.1828G>A (p.Ala610Thr)
c.1765G>A (p.Ala589Thr)
c.1720G>A (p.Ala574Thr)
c.1516G>A (p.Ala506Thr)
c.1816G>A (p.Ala606Thr)
c.1567G>A (p.Ala523Thr)
n.3833C>T
n.857G>A
 dbSNP
5g.96762352G>CCA360485017CAST,ERAP1c.832G>C (p.Ala278Pro)
c.1762G>C (p.Ala588Pro)
c.1540G>C (p.Ala514Pro)
c.1369G>C (p.Ala457Pro)
c.1654G>C (p.Ala552Pro)
c.1846G>C (p.Ala616Pro)
c.1912G>C (p.Ala638Pro)
c.293G>C
c.1814G>C
c.*1536G>C (n.*1536G>C)
c.629G>C
c.1525G>C (p.Ala509Pro)
c.1582G>C (p.Ala528Pro)
c.1801G>C (p.Ala601Pro)
n.456G>C
c.1456G>C (p.Ala486Pro)
c.*848C>G (n.*848C>G)
c.1597G>C (p.Ala533Pro)
c.1624G>C (p.Ala542Pro)
c.1663G>C (p.Ala555Pro)
n.1605G>C
c.1789G>C (p.Ala597Pro)
c.918G>C
c.890G>C
c.1447G>C (p.Ala483Pro)
c.808G>C (p.Ala270Pro)
c.1558G>C (p.Ala520Pro)
c.148G>C (p.Ala50Pro)
c.935G>C
c.1621G>C (p.Ala541Pro)
n.919G>C
c.1873G>C (p.Ala625Pro)
c.1867G>C (p.Ala623Pro)
c.1855G>C (p.Ala619Pro)
c.1810G>C (p.Ala604Pro)
c.1807G>C (p.Ala603Pro)
c.1744G>C (p.Ala582Pro)
c.1606G>C (p.Ala536Pro)
c.1501G>C (p.Ala501Pro)
c.1831G>C (p.Ala611Pro)
c.1828G>C (p.Ala610Pro)
c.1765G>C (p.Ala589Pro)
c.1720G>C (p.Ala574Pro)
c.1516G>C (p.Ala506Pro)
c.1816G>C (p.Ala606Pro)
c.1567G>C (p.Ala523Pro)
n.3833C>G
n.857G>C
5g.96762352G=CA1565569299CAST,ERAP1c.832G= (p.Ala278=)
c.1762G= (p.Ala588=)
c.1540G= (p.Ala514=)
c.1369G= (p.Ala457=)
c.1654G= (p.Ala552=)
c.1846G= (p.Ala616=)
c.1912G= (p.Ala638=)
c.293G=
c.1814G=
c.*1536G= (n.*1536G=)
c.629G=
c.1525G= (p.Ala509=)
c.1582G= (p.Ala528=)
c.1801G= (p.Ala601=)
n.456G=
c.1456G= (p.Ala486=)
c.*848C= (n.*848C=)
c.1597G= (p.Ala533=)
c.1624G= (p.Ala542=)
c.1663G= (p.Ala555=)
n.1605G=
c.1789G= (p.Ala597=)
c.918G=
c.890G=
c.1447G= (p.Ala483=)
c.808G= (p.Ala270=)
c.1558G= (p.Ala520=)
c.148G= (p.Ala50=)
c.935G=
c.1621G= (p.Ala541=)
n.919G=
c.1873G= (p.Ala625=)
c.1867G= (p.Ala623=)
c.1855G= (p.Ala619=)
c.1810G= (p.Ala604=)
c.1807G= (p.Ala603=)
c.1744G= (p.Ala582=)
c.1606G= (p.Ala536=)
c.1501G= (p.Ala501=)
c.1831G= (p.Ala611=)
c.1828G= (p.Ala610=)
c.1765G= (p.Ala589=)
c.1720G= (p.Ala574=)
c.1516G= (p.Ala506=)
c.1816G= (p.Ala606=)
c.1567G= (p.Ala523=)
n.3833C=
n.857G=
5g.96762352G>TCA360485018CAST,ERAP1c.832G>T (p.Ala278Ser)
c.1762G>T (p.Ala588Ser)
c.1540G>T (p.Ala514Ser)
c.1369G>T (p.Ala457Ser)
c.1654G>T (p.Ala552Ser)
c.1846G>T (p.Ala616Ser)
c.1912G>T (p.Ala638Ser)
c.293G>T
c.1814G>T
c.*1536G>T (n.*1536G>T)
c.629G>T
c.1525G>T (p.Ala509Ser)
c.1582G>T (p.Ala528Ser)
c.1801G>T (p.Ala601Ser)
n.456G>T
c.1456G>T (p.Ala486Ser)
c.*848C>A (n.*848C>A)
c.1597G>T (p.Ala533Ser)
c.1624G>T (p.Ala542Ser)
c.1663G>T (p.Ala555Ser)
n.1605G>T
c.1789G>T (p.Ala597Ser)
c.918G>T
c.890G>T
c.1447G>T (p.Ala483Ser)
c.808G>T (p.Ala270Ser)
c.1558G>T (p.Ala520Ser)
c.148G>T (p.Ala50Ser)
c.935G>T
c.1621G>T (p.Ala541Ser)
n.919G>T
c.1873G>T (p.Ala625Ser)
c.1867G>T (p.Ala623Ser)
c.1855G>T (p.Ala619Ser)
c.1810G>T (p.Ala604Ser)
c.1807G>T (p.Ala603Ser)
c.1744G>T (p.Ala582Ser)
c.1606G>T (p.Ala536Ser)
c.1501G>T (p.Ala501Ser)
c.1831G>T (p.Ala611Ser)
c.1828G>T (p.Ala610Ser)
c.1765G>T (p.Ala589Ser)
c.1720G>T (p.Ala574Ser)
c.1516G>T (p.Ala506Ser)
c.1816G>T (p.Ala606Ser)
c.1567G>T (p.Ala523Ser)
n.3833C>A
n.857G>T
5g.96762353C>ACA360485019CAST,ERAP1c.833C>A (p.Ala278Asp)
c.1763C>A (p.Ala588Asp)
c.1541C>A (p.Ala514Asp)
c.1370C>A (p.Ala457Asp)
c.1655C>A (p.Ala552Asp)
c.1847C>A (p.Ala616Asp)
c.1913C>A (p.Ala638Asp)
c.294C>A
c.1815C>A
c.*1537C>A (n.*1537C>A)
c.630C>A
c.1526C>A (p.Ala509Asp)
c.1583C>A (p.Ala528Asp)
c.1802C>A (p.Ala601Asp)
n.457C>A
c.1457C>A (p.Ala486Asp)
c.*847G>T (n.*847G>T)
c.1598C>A (p.Ala533Asp)
c.1625C>A (p.Ala542Asp)
c.1664C>A (p.Ala555Asp)
n.1606C>A
c.1790C>A (p.Ala597Asp)
c.919C>A
c.891C>A
c.1448C>A (p.Ala483Asp)
c.809C>A (p.Ala270Asp)
c.1559C>A (p.Ala520Asp)
c.149C>A (p.Ala50Asp)
c.936C>A
c.1622C>A (p.Ala541Asp)
n.920C>A
c.1874C>A (p.Ala625Asp)
c.1868C>A (p.Ala623Asp)
c.1856C>A (p.Ala619Asp)
c.1811C>A (p.Ala604Asp)
c.1808C>A (p.Ala603Asp)
c.1745C>A (p.Ala582Asp)
c.1607C>A (p.Ala536Asp)
c.1502C>A (p.Ala501Asp)
c.1832C>A (p.Ala611Asp)
c.1829C>A (p.Ala610Asp)
c.1766C>A (p.Ala589Asp)
c.1721C>A (p.Ala574Asp)
c.1517C>A (p.Ala506Asp)
c.1817C>A (p.Ala606Asp)
c.1568C>A (p.Ala523Asp)
n.3832G>T
n.858C>A
5g.96762353C=CA1565569300CAST,ERAP1c.833C= (p.Ala278=)
c.1763C= (p.Ala588=)
c.1541C= (p.Ala514=)
c.1370C= (p.Ala457=)
c.1655C= (p.Ala552=)
c.1847C= (p.Ala616=)
c.1913C= (p.Ala638=)
c.294C=
c.1815C=
c.*1537C= (n.*1537C=)
c.630C=
c.1526C= (p.Ala509=)
c.1583C= (p.Ala528=)
c.1802C= (p.Ala601=)
n.457C=
c.1457C= (p.Ala486=)
c.*847G= (n.*847G=)
c.1598C= (p.Ala533=)
c.1625C= (p.Ala542=)
c.1664C= (p.Ala555=)
n.1606C=
c.1790C= (p.Ala597=)
c.919C=
c.891C=
c.1448C= (p.Ala483=)
c.809C= (p.Ala270=)
c.1559C= (p.Ala520=)
c.149C= (p.Ala50=)
c.936C=
c.1622C= (p.Ala541=)
n.920C=
c.1874C= (p.Ala625=)
c.1868C= (p.Ala623=)
c.1856C= (p.Ala619=)
c.1811C= (p.Ala604=)
c.1808C= (p.Ala603=)
c.1745C= (p.Ala582=)
c.1607C= (p.Ala536=)
c.1502C= (p.Ala501=)
c.1832C= (p.Ala611=)
c.1829C= (p.Ala610=)
c.1766C= (p.Ala589=)
c.1721C= (p.Ala574=)
c.1517C= (p.Ala506=)
c.1817C= (p.Ala606=)
c.1568C= (p.Ala523=)
n.3832G=
n.858C=
5g.96762353C>GCA360485020CAST,ERAP1c.833C>G (p.Ala278Gly)
c.1763C>G (p.Ala588Gly)
c.1541C>G (p.Ala514Gly)
c.1370C>G (p.Ala457Gly)
c.1655C>G (p.Ala552Gly)
c.1847C>G (p.Ala616Gly)
c.1913C>G (p.Ala638Gly)
c.294C>G
c.1815C>G
c.*1537C>G (n.*1537C>G)
c.630C>G
c.1526C>G (p.Ala509Gly)
c.1583C>G (p.Ala528Gly)
c.1802C>G (p.Ala601Gly)
n.457C>G
c.1457C>G (p.Ala486Gly)
c.*847G>C (n.*847G>C)
c.1598C>G (p.Ala533Gly)
c.1625C>G (p.Ala542Gly)
c.1664C>G (p.Ala555Gly)
n.1606C>G
c.1790C>G (p.Ala597Gly)
c.919C>G
c.891C>G
c.1448C>G (p.Ala483Gly)
c.809C>G (p.Ala270Gly)
c.1559C>G (p.Ala520Gly)
c.149C>G (p.Ala50Gly)
c.936C>G
c.1622C>G (p.Ala541Gly)
n.920C>G
c.1874C>G (p.Ala625Gly)
c.1868C>G (p.Ala623Gly)
c.1856C>G (p.Ala619Gly)
c.1811C>G (p.Ala604Gly)
c.1808C>G (p.Ala603Gly)
c.1745C>G (p.Ala582Gly)
c.1607C>G (p.Ala536Gly)
c.1502C>G (p.Ala501Gly)
c.1832C>G (p.Ala611Gly)
c.1829C>G (p.Ala610Gly)
c.1766C>G (p.Ala589Gly)
c.1721C>G (p.Ala574Gly)
c.1517C>G (p.Ala506Gly)
c.1817C>G (p.Ala606Gly)
c.1568C>G (p.Ala523Gly)
n.3832G>C
n.858C>G
5g.96762353C>TCA360485021CAST,ERAP1c.833C>T (p.Ala278Val)
c.1763C>T (p.Ala588Val)
c.1541C>T (p.Ala514Val)
c.1370C>T (p.Ala457Val)
c.1655C>T (p.Ala552Val)
c.1847C>T (p.Ala616Val)
c.1913C>T (p.Ala638Val)
c.294C>T
c.1815C>T
c.*1537C>T (n.*1537C>T)
c.630C>T
c.1526C>T (p.Ala509Val)
c.1583C>T (p.Ala528Val)
c.1802C>T (p.Ala601Val)
n.457C>T
c.1457C>T (p.Ala486Val)
c.*847G>A (n.*847G>A)
c.1598C>T (p.Ala533Val)
c.1625C>T (p.Ala542Val)
c.1664C>T (p.Ala555Val)
n.1606C>T
c.1790C>T (p.Ala597Val)
c.919C>T
c.891C>T
c.1448C>T (p.Ala483Val)
c.809C>T (p.Ala270Val)
c.1559C>T (p.Ala520Val)
c.149C>T (p.Ala50Val)
c.936C>T
c.1622C>T (p.Ala541Val)
n.920C>T
c.1874C>T (p.Ala625Val)
c.1868C>T (p.Ala623Val)
c.1856C>T (p.Ala619Val)
c.1811C>T (p.Ala604Val)
c.1808C>T (p.Ala603Val)
c.1745C>T (p.Ala582Val)
c.1607C>T (p.Ala536Val)
c.1502C>T (p.Ala501Val)
c.1832C>T (p.Ala611Val)
c.1829C>T (p.Ala610Val)
c.1766C>T (p.Ala589Val)
c.1721C>T (p.Ala574Val)
c.1517C>T (p.Ala506Val)
c.1817C>T (p.Ala606Val)
c.1568C>T (p.Ala523Val)
n.3832G>A
n.858C>T
 dbSNP gnomAD v4
5g.96762356delCA2674677815CAST,ERAP1c.836del (p.Pro279HisfsTer22)
c.1766del (p.Pro589HisfsTer23)
c.1544del (p.Pro515HisfsTer23)
c.1373del (p.Pro458HisfsTer22)
c.1658del (p.Pro553HisfsTer22)
c.1850del (p.Pro617HisfsTer23)
c.1916del (p.Pro639HisfsTer23)
c.297del
c.1818del
c.*1540del (n.*1540del)
c.633del
c.1529del (p.Pro510HisfsTer23)
c.1586del (p.Pro529HisfsTer23)
c.1805del (p.Pro602HisfsTer23)
n.460del
c.1460del (p.Pro487HisfsTer23)
c.*847del (n.*847del)
c.1601del (p.Pro534HisfsTer23)
c.1628del (p.Pro543HisfsTer23)
c.1667del (p.Pro556HisfsTer23)
n.1609del
c.1793del (p.Pro598HisfsTer23)
c.922del
c.894del
c.1451del (p.Pro484HisfsTer23)
c.812del (p.Pro271HisfsTer23)
c.1562del (p.Pro521HisfsTer23)
c.152del (p.Pro51HisfsTer23)
c.939del
c.1625del (p.Pro542HisfsTer22)
c.1625del (p.Pro542HisfsTer23)
c.836del (p.Pro279HisfsTer23)
c.1544del (p.Pro515HisfsTer22)
n.923del
c.1916del (p.Pro639HisfsTer22)
c.1877del (p.Pro626HisfsTer23)
c.1871del (p.Pro624HisfsTer23)
c.1859del (p.Pro620HisfsTer23)
c.1814del (p.Pro605HisfsTer23)
c.1811del (p.Pro604HisfsTer23)
c.1793del (p.Pro598HisfsTer22)
c.1748del (p.Pro583HisfsTer23)
c.1610del (p.Pro537HisfsTer23)
c.1505del (p.Pro502HisfsTer23)
c.1835del (p.Pro612HisfsTer23)
c.1832del (p.Pro611HisfsTer23)
c.1769del (p.Pro590HisfsTer23)
c.1724del (p.Pro575HisfsTer23)
c.1520del (p.Pro507HisfsTer23)
c.1820del (p.Pro607HisfsTer23)
c.1505del (p.Pro502HisfsTer22)
c.1601del (p.Pro534HisfsTer22)
c.1571del (p.Pro524HisfsTer23)
n.3832del
n.861del
 gnomAD v4
5g.96762354C>ACA445511111CAST,ERAP1c.834C>A (p.Ala278=)
c.1764C>A (p.Ala588=)
c.1542C>A (p.Ala514=)
c.1371C>A (p.Ala457=)
c.1656C>A (p.Ala552=)
c.1848C>A (p.Ala616=)
c.1914C>A (p.Ala638=)
c.295C>A
c.1816C>A
c.*1538C>A (n.*1538C>A)
c.631C>A
c.1527C>A (p.Ala509=)
c.1584C>A (p.Ala528=)
c.1803C>A (p.Ala601=)
n.458C>A
c.1458C>A (p.Ala486=)
c.*846G>T (n.*846G>T)
c.1599C>A (p.Ala533=)
c.1626C>A (p.Ala542=)
c.1665C>A (p.Ala555=)
n.1607C>A
c.1791C>A (p.Ala597=)
c.920C>A
c.892C>A
c.1449C>A (p.Ala483=)
c.810C>A (p.Ala270=)
c.1560C>A (p.Ala520=)
c.150C>A (p.Ala50=)
c.937C>A
c.1623C>A (p.Ala541=)
n.921C>A
c.1875C>A (p.Ala625=)
c.1869C>A (p.Ala623=)
c.1857C>A (p.Ala619=)
c.1812C>A (p.Ala604=)
c.1809C>A (p.Ala603=)
c.1746C>A (p.Ala582=)
c.1608C>A (p.Ala536=)
c.1503C>A (p.Ala501=)
c.1833C>A (p.Ala611=)
c.1830C>A (p.Ala610=)
c.1767C>A (p.Ala589=)
c.1722C>A (p.Ala574=)
c.1518C>A (p.Ala506=)
c.1818C>A (p.Ala606=)
c.1569C>A (p.Ala523=)
n.3831G>T
n.859C>A
5g.96762354C=CA1565569301CAST,ERAP1c.834C= (p.Ala278=)
c.1764C= (p.Ala588=)
c.1542C= (p.Ala514=)
c.1371C= (p.Ala457=)
c.1656C= (p.Ala552=)
c.1848C= (p.Ala616=)
c.1914C= (p.Ala638=)
c.295C=
c.1816C=
c.*1538C= (n.*1538C=)
c.631C=
c.1527C= (p.Ala509=)
c.1584C= (p.Ala528=)
c.1803C= (p.Ala601=)
n.458C=
c.1458C= (p.Ala486=)
c.*846G= (n.*846G=)
c.1599C= (p.Ala533=)
c.1626C= (p.Ala542=)
c.1665C= (p.Ala555=)
n.1607C=
c.1791C= (p.Ala597=)
c.920C=
c.892C=
c.1449C= (p.Ala483=)
c.810C= (p.Ala270=)
c.1560C= (p.Ala520=)
c.150C= (p.Ala50=)
c.937C=
c.1623C= (p.Ala541=)
n.921C=
c.1875C= (p.Ala625=)
c.1869C= (p.Ala623=)
c.1857C= (p.Ala619=)
c.1812C= (p.Ala604=)
c.1809C= (p.Ala603=)
c.1746C= (p.Ala582=)
c.1608C= (p.Ala536=)
c.1503C= (p.Ala501=)
c.1833C= (p.Ala611=)
c.1830C= (p.Ala610=)
c.1767C= (p.Ala589=)
c.1722C= (p.Ala574=)
c.1518C= (p.Ala506=)
c.1818C= (p.Ala606=)
c.1569C= (p.Ala523=)
n.3831G=
n.859C=
5g.96762354C>GCA445511113CAST,ERAP1c.834C>G (p.Ala278=)
c.1764C>G (p.Ala588=)
c.1542C>G (p.Ala514=)
c.1371C>G (p.Ala457=)
c.1656C>G (p.Ala552=)
c.1848C>G (p.Ala616=)
c.1914C>G (p.Ala638=)
c.295C>G
c.1816C>G
c.*1538C>G (n.*1538C>G)
c.631C>G
c.1527C>G (p.Ala509=)
c.1584C>G (p.Ala528=)
c.1803C>G (p.Ala601=)
n.458C>G
c.1458C>G (p.Ala486=)
c.*846G>C (n.*846G>C)
c.1599C>G (p.Ala533=)
c.1626C>G (p.Ala542=)
c.1665C>G (p.Ala555=)
n.1607C>G
c.1791C>G (p.Ala597=)
c.920C>G
c.892C>G
c.1449C>G (p.Ala483=)
c.810C>G (p.Ala270=)
c.1560C>G (p.Ala520=)
c.150C>G (p.Ala50=)
c.937C>G
c.1623C>G (p.Ala541=)
n.921C>G
c.1875C>G (p.Ala625=)
c.1869C>G (p.Ala623=)
c.1857C>G (p.Ala619=)
c.1812C>G (p.Ala604=)
c.1809C>G (p.Ala603=)
c.1746C>G (p.Ala582=)
c.1608C>G (p.Ala536=)
c.1503C>G (p.Ala501=)
c.1833C>G (p.Ala611=)
c.1830C>G (p.Ala610=)
c.1767C>G (p.Ala589=)
c.1722C>G (p.Ala574=)
c.1518C>G (p.Ala506=)
c.1818C>G (p.Ala606=)
c.1569C>G (p.Ala523=)
n.3831G>C
n.859C>G
5g.96762354C>TCA122976541CAST,ERAP1c.834C>T (p.Ala278=)
c.1764C>T (p.Ala588=)
c.1542C>T (p.Ala514=)
c.1371C>T (p.Ala457=)
c.1656C>T (p.Ala552=)
c.1848C>T (p.Ala616=)
c.1914C>T (p.Ala638=)
c.295C>T
c.1816C>T
c.*1538C>T (n.*1538C>T)
c.631C>T
c.1527C>T (p.Ala509=)
c.1584C>T (p.Ala528=)
c.1803C>T (p.Ala601=)
n.458C>T
c.1458C>T (p.Ala486=)
c.*846G>A (n.*846G>A)
c.1599C>T (p.Ala533=)
c.1626C>T (p.Ala542=)
c.1665C>T (p.Ala555=)
n.1607C>T
c.1791C>T (p.Ala597=)
c.920C>T
c.892C>T
c.1449C>T (p.Ala483=)
c.810C>T (p.Ala270=)
c.1560C>T (p.Ala520=)
c.150C>T (p.Ala50=)
c.937C>T
c.1623C>T (p.Ala541=)
n.921C>T
c.1875C>T (p.Ala625=)
c.1869C>T (p.Ala623=)
c.1857C>T (p.Ala619=)
c.1812C>T (p.Ala604=)
c.1809C>T (p.Ala603=)
c.1746C>T (p.Ala582=)
c.1608C>T (p.Ala536=)
c.1503C>T (p.Ala501=)
c.1833C>T (p.Ala611=)
c.1830C>T (p.Ala610=)
c.1767C>T (p.Ala589=)
c.1722C>T (p.Ala574=)
c.1518C>T (p.Ala506=)
c.1818C>T (p.Ala606=)
c.1569C>T (p.Ala523=)
n.3831G>A
n.859C>T
 dbSNP
5g.96762355C>ACA360485024CAST,ERAP1c.835C>A (p.Pro279Thr)
c.1765C>A (p.Pro589Thr)
c.1543C>A (p.Pro515Thr)
c.1372C>A (p.Pro458Thr)
c.1657C>A (p.Pro553Thr)
c.1849C>A (p.Pro617Thr)
c.1915C>A (p.Pro639Thr)
c.296C>A
c.1817C>A
c.*1539C>A (n.*1539C>A)
c.632C>A
c.1528C>A (p.Pro510Thr)
c.1585C>A (p.Pro529Thr)
c.1804C>A (p.Pro602Thr)
n.459C>A
c.1459C>A (p.Pro487Thr)
c.*845G>T (n.*845G>T)
c.1600C>A (p.Pro534Thr)
c.1627C>A (p.Pro543Thr)
c.1666C>A (p.Pro556Thr)
n.1608C>A
c.1792C>A (p.Pro598Thr)
c.921C>A
c.893C>A
c.1450C>A (p.Pro484Thr)
c.811C>A (p.Pro271Thr)
c.1561C>A (p.Pro521Thr)
c.151C>A (p.Pro51Thr)
c.938C>A
c.1624C>A (p.Pro542Thr)
n.922C>A
c.1876C>A (p.Pro626Thr)
c.1870C>A (p.Pro624Thr)
c.1858C>A (p.Pro620Thr)
c.1813C>A (p.Pro605Thr)
c.1810C>A (p.Pro604Thr)
c.1747C>A (p.Pro583Thr)
c.1609C>A (p.Pro537Thr)
c.1504C>A (p.Pro502Thr)
c.1834C>A (p.Pro612Thr)
c.1831C>A (p.Pro611Thr)
c.1768C>A (p.Pro590Thr)
c.1723C>A (p.Pro575Thr)
c.1519C>A (p.Pro507Thr)
c.1819C>A (p.Pro607Thr)
c.1570C>A (p.Pro524Thr)
n.3830G>T
n.860C>A
 gnomAD v4
5g.96762355C=CA1565569302CAST,ERAP1c.835C= (p.Pro279=)
c.1765C= (p.Pro589=)
c.1543C= (p.Pro515=)
c.1372C= (p.Pro458=)
c.1657C= (p.Pro553=)
c.1849C= (p.Pro617=)
c.1915C= (p.Pro639=)
c.296C=
c.1817C=
c.*1539C= (n.*1539C=)
c.632C=
c.1528C= (p.Pro510=)
c.1585C= (p.Pro529=)
c.1804C= (p.Pro602=)
n.459C=
c.1459C= (p.Pro487=)
c.*845G= (n.*845G=)
c.1600C= (p.Pro534=)
c.1627C= (p.Pro543=)
c.1666C= (p.Pro556=)
n.1608C=
c.1792C= (p.Pro598=)
c.921C=
c.893C=
c.1450C= (p.Pro484=)
c.811C= (p.Pro271=)
c.1561C= (p.Pro521=)
c.151C= (p.Pro51=)
c.938C=
c.1624C= (p.Pro542=)
n.922C=
c.1876C= (p.Pro626=)
c.1870C= (p.Pro624=)
c.1858C= (p.Pro620=)
c.1813C= (p.Pro605=)
c.1810C= (p.Pro604=)
c.1747C= (p.Pro583=)
c.1609C= (p.Pro537=)
c.1504C= (p.Pro502=)
c.1834C= (p.Pro612=)
c.1831C= (p.Pro611=)
c.1768C= (p.Pro590=)
c.1723C= (p.Pro575=)
c.1519C= (p.Pro507=)
c.1819C= (p.Pro607=)
c.1570C= (p.Pro524=)
n.3830G=
n.860C=
5g.96762355C>GCA360485023CAST,ERAP1c.835C>G (p.Pro279Ala)
c.1765C>G (p.Pro589Ala)
c.1543C>G (p.Pro515Ala)
c.1372C>G (p.Pro458Ala)
c.1657C>G (p.Pro553Ala)
c.1849C>G (p.Pro617Ala)
c.1915C>G (p.Pro639Ala)
c.296C>G
c.1817C>G
c.*1539C>G (n.*1539C>G)
c.632C>G
c.1528C>G (p.Pro510Ala)
c.1585C>G (p.Pro529Ala)
c.1804C>G (p.Pro602Ala)
n.459C>G
c.1459C>G (p.Pro487Ala)
c.*845G>C (n.*845G>C)
c.1600C>G (p.Pro534Ala)
c.1627C>G (p.Pro543Ala)
c.1666C>G (p.Pro556Ala)
n.1608C>G
c.1792C>G (p.Pro598Ala)
c.921C>G
c.893C>G
c.1450C>G (p.Pro484Ala)
c.811C>G (p.Pro271Ala)
c.1561C>G (p.Pro521Ala)
c.151C>G (p.Pro51Ala)
c.938C>G
c.1624C>G (p.Pro542Ala)
n.922C>G
c.1876C>G (p.Pro626Ala)
c.1870C>G (p.Pro624Ala)
c.1858C>G (p.Pro620Ala)
c.1813C>G (p.Pro605Ala)
c.1810C>G (p.Pro604Ala)
c.1747C>G (p.Pro583Ala)
c.1609C>G (p.Pro537Ala)
c.1504C>G (p.Pro502Ala)
c.1834C>G (p.Pro612Ala)
c.1831C>G (p.Pro611Ala)
c.1768C>G (p.Pro590Ala)
c.1723C>G (p.Pro575Ala)
c.1519C>G (p.Pro507Ala)
c.1819C>G (p.Pro607Ala)
c.1570C>G (p.Pro524Ala)
n.3830G>C
n.860C>G
5g.96762355C>TCA360485022CAST,ERAP1c.835C>T (p.Pro279Ser)
c.1765C>T (p.Pro589Ser)
c.1543C>T (p.Pro515Ser)
c.1372C>T (p.Pro458Ser)
c.1657C>T (p.Pro553Ser)
c.1849C>T (p.Pro617Ser)
c.1915C>T (p.Pro639Ser)
c.296C>T
c.1817C>T
c.*1539C>T (n.*1539C>T)
c.632C>T
c.1528C>T (p.Pro510Ser)
c.1585C>T (p.Pro529Ser)
c.1804C>T (p.Pro602Ser)
n.459C>T
c.1459C>T (p.Pro487Ser)
c.*845G>A (n.*845G>A)
c.1600C>T (p.Pro534Ser)
c.1627C>T (p.Pro543Ser)
c.1666C>T (p.Pro556Ser)
n.1608C>T
c.1792C>T (p.Pro598Ser)
c.921C>T
c.893C>T
c.1450C>T (p.Pro484Ser)
c.811C>T (p.Pro271Ser)
c.1561C>T (p.Pro521Ser)
c.151C>T (p.Pro51Ser)
c.938C>T
c.1624C>T (p.Pro542Ser)
n.922C>T
c.1876C>T (p.Pro626Ser)
c.1870C>T (p.Pro624Ser)
c.1858C>T (p.Pro620Ser)
c.1813C>T (p.Pro605Ser)
c.1810C>T (p.Pro604Ser)
c.1747C>T (p.Pro583Ser)
c.1609C>T (p.Pro537Ser)
c.1504C>T (p.Pro502Ser)
c.1834C>T (p.Pro612Ser)
c.1831C>T (p.Pro611Ser)
c.1768C>T (p.Pro590Ser)
c.1723C>T (p.Pro575Ser)
c.1519C>T (p.Pro507Ser)
c.1819C>T (p.Pro607Ser)
c.1570C>T (p.Pro524Ser)
n.3830G>A
n.860C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.96762356C>ACA360485025CAST,ERAP1c.836C>A (p.Pro279Gln)
c.1766C>A (p.Pro589Gln)
c.1544C>A (p.Pro515Gln)
c.1373C>A (p.Pro458Gln)
c.1658C>A (p.Pro553Gln)
c.1850C>A (p.Pro617Gln)
c.1916C>A (p.Pro639Gln)
c.297C>A
c.1818C>A
c.*1540C>A (n.*1540C>A)
c.633C>A
c.1529C>A (p.Pro510Gln)
c.1586C>A (p.Pro529Gln)
c.1805C>A (p.Pro602Gln)
n.460C>A
c.1460C>A (p.Pro487Gln)
c.*844G>T (n.*844G>T)
c.1601C>A (p.Pro534Gln)
c.1628C>A (p.Pro543Gln)
c.1667C>A (p.Pro556Gln)
n.1609C>A
c.1793C>A (p.Pro598Gln)
c.922C>A
c.894C>A
c.1451C>A (p.Pro484Gln)
c.812C>A (p.Pro271Gln)
c.1562C>A (p.Pro521Gln)
c.152C>A (p.Pro51Gln)
c.939C>A
c.1625C>A (p.Pro542Gln)
n.923C>A
c.1877C>A (p.Pro626Gln)
c.1871C>A (p.Pro624Gln)
c.1859C>A (p.Pro620Gln)
c.1814C>A (p.Pro605Gln)
c.1811C>A (p.Pro604Gln)
c.1748C>A (p.Pro583Gln)
c.1610C>A (p.Pro537Gln)
c.1505C>A (p.Pro502Gln)
c.1835C>A (p.Pro612Gln)
c.1832C>A (p.Pro611Gln)
c.1769C>A (p.Pro590Gln)
c.1724C>A (p.Pro575Gln)
c.1520C>A (p.Pro507Gln)
c.1820C>A (p.Pro607Gln)
c.1571C>A (p.Pro524Gln)
n.3829G>T
n.861C>A
5g.96762356C=CA1565569303CAST,ERAP1c.836C= (p.Pro279=)
c.1766C= (p.Pro589=)
c.1544C= (p.Pro515=)
c.1373C= (p.Pro458=)
c.1658C= (p.Pro553=)
c.1850C= (p.Pro617=)
c.1916C= (p.Pro639=)
c.297C=
c.1818C=
c.*1540C= (n.*1540C=)
c.633C=
c.1529C= (p.Pro510=)
c.1586C= (p.Pro529=)
c.1805C= (p.Pro602=)
n.460C=
c.1460C= (p.Pro487=)
c.*844G= (n.*844G=)
c.1601C= (p.Pro534=)
c.1628C= (p.Pro543=)
c.1667C= (p.Pro556=)
n.1609C=
c.1793C= (p.Pro598=)
c.922C=
c.894C=
c.1451C= (p.Pro484=)
c.812C= (p.Pro271=)
c.1562C= (p.Pro521=)
c.152C= (p.Pro51=)
c.939C=
c.1625C= (p.Pro542=)
n.923C=
c.1877C= (p.Pro626=)
c.1871C= (p.Pro624=)
c.1859C= (p.Pro620=)
c.1814C= (p.Pro605=)
c.1811C= (p.Pro604=)
c.1748C= (p.Pro583=)
c.1610C= (p.Pro537=)
c.1505C= (p.Pro502=)
c.1835C= (p.Pro612=)
c.1832C= (p.Pro611=)
c.1769C= (p.Pro590=)
c.1724C= (p.Pro575=)
c.1520C= (p.Pro507=)
c.1820C= (p.Pro607=)
c.1571C= (p.Pro524=)
n.3829G=
n.861C=
5g.96762356C>GCA360485027CAST,ERAP1c.836C>G (p.Pro279Arg)
c.1766C>G (p.Pro589Arg)
c.1544C>G (p.Pro515Arg)
c.1373C>G (p.Pro458Arg)
c.1658C>G (p.Pro553Arg)
c.1850C>G (p.Pro617Arg)
c.1916C>G (p.Pro639Arg)
c.297C>G
c.1818C>G
c.*1540C>G (n.*1540C>G)
c.633C>G
c.1529C>G (p.Pro510Arg)
c.1586C>G (p.Pro529Arg)
c.1805C>G (p.Pro602Arg)
n.460C>G
c.1460C>G (p.Pro487Arg)
c.*844G>C (n.*844G>C)
c.1601C>G (p.Pro534Arg)
c.1628C>G (p.Pro543Arg)
c.1667C>G (p.Pro556Arg)
n.1609C>G
c.1793C>G (p.Pro598Arg)
c.922C>G
c.894C>G
c.1451C>G (p.Pro484Arg)
c.812C>G (p.Pro271Arg)
c.1562C>G (p.Pro521Arg)
c.152C>G (p.Pro51Arg)
c.939C>G
c.1625C>G (p.Pro542Arg)
n.923C>G
c.1877C>G (p.Pro626Arg)
c.1871C>G (p.Pro624Arg)
c.1859C>G (p.Pro620Arg)
c.1814C>G (p.Pro605Arg)
c.1811C>G (p.Pro604Arg)
c.1748C>G (p.Pro583Arg)
c.1610C>G (p.Pro537Arg)
c.1505C>G (p.Pro502Arg)
c.1835C>G (p.Pro612Arg)
c.1832C>G (p.Pro611Arg)
c.1769C>G (p.Pro590Arg)
c.1724C>G (p.Pro575Arg)
c.1520C>G (p.Pro507Arg)
c.1820C>G (p.Pro607Arg)
c.1571C>G (p.Pro524Arg)
n.3829G>C
n.861C>G
5g.96762356C>TCA360485026CAST,ERAP1c.836C>T (p.Pro279Leu)
c.1766C>T (p.Pro589Leu)
c.1544C>T (p.Pro515Leu)
c.1373C>T (p.Pro458Leu)
c.1658C>T (p.Pro553Leu)
c.1850C>T (p.Pro617Leu)
c.1916C>T (p.Pro639Leu)
c.297C>T
c.1818C>T
c.*1540C>T (n.*1540C>T)
c.633C>T
c.1529C>T (p.Pro510Leu)
c.1586C>T (p.Pro529Leu)
c.1805C>T (p.Pro602Leu)
n.460C>T
c.1460C>T (p.Pro487Leu)
c.*844G>A (n.*844G>A)
c.1601C>T (p.Pro534Leu)
c.1628C>T (p.Pro543Leu)
c.1667C>T (p.Pro556Leu)
n.1609C>T
c.1793C>T (p.Pro598Leu)
c.922C>T
c.894C>T
c.1451C>T (p.Pro484Leu)
c.812C>T (p.Pro271Leu)
c.1562C>T (p.Pro521Leu)
c.152C>T (p.Pro51Leu)
c.939C>T
c.1625C>T (p.Pro542Leu)
n.923C>T
c.1877C>T (p.Pro626Leu)
c.1871C>T (p.Pro624Leu)
c.1859C>T (p.Pro620Leu)
c.1814C>T (p.Pro605Leu)
c.1811C>T (p.Pro604Leu)
c.1748C>T (p.Pro583Leu)
c.1610C>T (p.Pro537Leu)
c.1505C>T (p.Pro502Leu)
c.1835C>T (p.Pro612Leu)
c.1832C>T (p.Pro611Leu)
c.1769C>T (p.Pro590Leu)
c.1724C>T (p.Pro575Leu)
c.1520C>T (p.Pro507Leu)
c.1820C>T (p.Pro607Leu)
c.1571C>T (p.Pro524Leu)
n.3829G>A
n.861C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.96762357A>CCA445511116CAST,ERAP1c.837A>C (p.Pro279=)
c.1767A>C (p.Pro589=)
c.1545A>C (p.Pro515=)
c.1374A>C (p.Pro458=)
c.1659A>C (p.Pro553=)
c.1851A>C (p.Pro617=)
c.1917A>C (p.Pro639=)
c.298A>C
c.1819A>C
c.*1541A>C (n.*1541A>C)
c.634A>C
c.1530A>C (p.Pro510=)
c.1587A>C (p.Pro529=)
c.1806A>C (p.Pro602=)
n.461A>C
c.1461A>C (p.Pro487=)
c.*843T>G (n.*843T>G)
c.1602A>C (p.Pro534=)
c.1629A>C (p.Pro543=)
c.1668A>C (p.Pro556=)
n.1610A>C
c.1794A>C (p.Pro598=)
c.923A>C
c.895A>C
c.1452A>C (p.Pro484=)
c.813A>C (p.Pro271=)
c.1563A>C (p.Pro521=)
c.153A>C (p.Pro51=)
c.940A>C
c.1626A>C (p.Pro542=)
n.924A>C
c.1878A>C (p.Pro626=)
c.1872A>C (p.Pro624=)
c.1860A>C (p.Pro620=)
c.1815A>C (p.Pro605=)
c.1812A>C (p.Pro604=)
c.1749A>C (p.Pro583=)
c.1611A>C (p.Pro537=)
c.1506A>C (p.Pro502=)
c.1836A>C (p.Pro612=)
c.1833A>C (p.Pro611=)
c.1770A>C (p.Pro590=)
c.1725A>C (p.Pro575=)
c.1521A>C (p.Pro507=)
c.1821A>C (p.Pro607=)
c.1572A>C (p.Pro524=)
n.3828T>G
n.862A>C
5g.96762357A>GCA445511114CAST,ERAP1c.837A>G (p.Pro279=)
c.1767A>G (p.Pro589=)
c.1545A>G (p.Pro515=)
c.1374A>G (p.Pro458=)
c.1659A>G (p.Pro553=)
c.1851A>G (p.Pro617=)
c.1917A>G (p.Pro639=)
c.298A>G
c.1819A>G
c.*1541A>G (n.*1541A>G)
c.634A>G
c.1530A>G (p.Pro510=)
c.1587A>G (p.Pro529=)
c.1806A>G (p.Pro602=)
n.461A>G
c.1461A>G (p.Pro487=)
c.*843T>C (n.*843T>C)
c.1602A>G (p.Pro534=)
c.1629A>G (p.Pro543=)
c.1668A>G (p.Pro556=)
n.1610A>G
c.1794A>G (p.Pro598=)
c.923A>G
c.895A>G
c.1452A>G (p.Pro484=)
c.813A>G (p.Pro271=)
c.1563A>G (p.Pro521=)
c.153A>G (p.Pro51=)
c.940A>G
c.1626A>G (p.Pro542=)
n.924A>G
c.1878A>G (p.Pro626=)
c.1872A>G (p.Pro624=)
c.1860A>G (p.Pro620=)
c.1815A>G (p.Pro605=)
c.1812A>G (p.Pro604=)
c.1749A>G (p.Pro583=)
c.1611A>G (p.Pro537=)
c.1506A>G (p.Pro502=)
c.1836A>G (p.Pro612=)
c.1833A>G (p.Pro611=)
c.1770A>G (p.Pro590=)
c.1725A>G (p.Pro575=)
c.1521A>G (p.Pro507=)
c.1821A>G (p.Pro607=)
c.1572A>G (p.Pro524=)
n.3828T>C
n.862A>G
 gnomAD v4
5g.96762357A>TCA445511115CAST,ERAP1c.837A>T (p.Pro279=)
c.1767A>T (p.Pro589=)
c.1545A>T (p.Pro515=)
c.1374A>T (p.Pro458=)
c.1659A>T (p.Pro553=)
c.1851A>T (p.Pro617=)
c.1917A>T (p.Pro639=)
c.298A>T
c.1819A>T
c.*1541A>T (n.*1541A>T)
c.634A>T
c.1530A>T (p.Pro510=)
c.1587A>T (p.Pro529=)
c.1806A>T (p.Pro602=)
n.461A>T
c.1461A>T (p.Pro487=)
c.*843T>A (n.*843T>A)
c.1602A>T (p.Pro534=)
c.1629A>T (p.Pro543=)
c.1668A>T (p.Pro556=)
n.1610A>T
c.1794A>T (p.Pro598=)
c.923A>T
c.895A>T
c.1452A>T (p.Pro484=)
c.813A>T (p.Pro271=)
c.1563A>T (p.Pro521=)
c.153A>T (p.Pro51=)
c.940A>T
c.1626A>T (p.Pro542=)
n.924A>T
c.1878A>T (p.Pro626=)
c.1872A>T (p.Pro624=)
c.1860A>T (p.Pro620=)
c.1815A>T (p.Pro605=)
c.1812A>T (p.Pro604=)
c.1749A>T (p.Pro583=)
c.1611A>T (p.Pro537=)
c.1506A>T (p.Pro502=)
c.1836A>T (p.Pro612=)
c.1833A>T (p.Pro611=)
c.1770A>T (p.Pro590=)
c.1725A>T (p.Pro575=)
c.1521A>T (p.Pro507=)
c.1821A>T (p.Pro607=)
c.1572A>T (p.Pro524=)
n.3828T>A
n.862A>T

Number of alleles fetched