Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.37137934A=CA2362416910MROH8c.1525T= (p.Ser509=)
c.1420T= (p.Ser474=)
c.1267T= (p.Ser423=)
n.1594T=
c.1605T=
c.1617T=
c.407T=
c.1529T=
20g.37137934A>CCA408834253MROH8c.1525T>G (p.Ser509Ala)
c.1420T>G (p.Ser474Ala)
c.1267T>G (p.Ser423Ala)
n.1594T>G
c.1605T>G
c.1617T>G
c.407T>G
c.1529T>G
20g.37137934A>GCA9846354MROH8c.1525T>C (p.Ser509Pro)
c.1420T>C (p.Ser474Pro)
c.1267T>C (p.Ser423Pro)
n.1594T>C
c.1605T>C
c.1617T>C
c.407T>C
c.1529T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.37137934A>TCA408834252MROH8c.1525T>A (p.Ser509Thr)
c.1420T>A (p.Ser474Thr)
c.1267T>A (p.Ser423Thr)
n.1594T>A
c.1605T>A
c.1617T>A
c.407T>A
c.1529T>A
 gnomAD v3 gnomAD v4
20g.37137935T>ACA408834255MROH8c.1524A>T (p.Leu508Phe)
c.1419A>T (p.Leu473Phe)
c.1266A>T (p.Leu422Phe)
n.1593A>T
c.1604A>T
c.1616A>T
c.406A>T
c.1528A>T
20g.37137935T>CCA510393333MROH8c.1524A>G (p.Leu508=)
c.1419A>G (p.Leu473=)
c.1266A>G (p.Leu422=)
n.1593A>G
c.1604A>G
c.1616A>G
c.406A>G
c.1528A>G
 gnomAD v4
20g.37137935T>GCA408834254MROH8c.1524A>C (p.Leu508Phe)
c.1419A>C (p.Leu473Phe)
c.1266A>C (p.Leu422Phe)
n.1593A>C
c.1604A>C
c.1616A>C
c.406A>C
c.1528A>C
20g.37137936A=CA2362416911MROH8c.1523T= (p.Leu508=)
c.1418T= (p.Leu473=)
c.1265T= (p.Leu422=)
n.1592T=
c.1603T=
c.1615T=
c.405T=
c.1527T=
20g.37137936A>CCA408834256MROH8c.1523T>G (p.Leu508Ter)
c.1418T>G (p.Leu473Ter)
c.1265T>G (p.Leu422Ter)
n.1592T>G
c.1603T>G
c.1615T>G
c.405T>G
c.1527T>G
20g.37137936A>GCA408834257MROH8c.1523T>C (p.Leu508Ser)
c.1418T>C (p.Leu473Ser)
c.1265T>C (p.Leu422Ser)
n.1592T>C
c.1603T>C
c.1615T>C
c.405T>C
c.1527T>C
 dbSNP gnomAD v2
20g.37137936A>TCA408834258MROH8c.1523T>A (p.Leu508Ter)
c.1418T>A (p.Leu473Ter)
c.1265T>A (p.Leu422Ter)
n.1592T>A
c.1603T>A
c.1615T>A
c.405T>A
c.1527T>A
20g.37137937A>CCA408834259MROH8c.1522T>G (p.Leu508Val)
c.1417T>G (p.Leu473Val)
c.1264T>G (p.Leu422Val)
n.1591T>G
c.1602T>G
c.1614T>G
c.404T>G
c.1526T>G
20g.37137937A>GCA510393334MROH8c.1522T>C (p.Leu508=)
c.1417T>C (p.Leu473=)
c.1264T>C (p.Leu422=)
n.1591T>C
c.1602T>C
c.1614T>C
c.404T>C
c.1526T>C
20g.37137937A>TCA408834260MROH8c.1522T>A (p.Leu508Ile)
c.1417T>A (p.Leu473Ile)
c.1264T>A (p.Leu422Ile)
n.1591T>A
c.1602T>A
c.1614T>A
c.404T>A
c.1526T>A
20g.37137938C>ACA408834262MROH8c.1521G>T (p.Gln507His)
c.1416G>T (p.Gln472His)
c.1263G>T (p.Gln421His)
n.1590G>T
c.1601G>T
c.1613G>T
c.403G>T
c.1525G>T
20g.37137938C=CA2362416912MROH8c.1521G= (p.Gln507=)
c.1416G= (p.Gln472=)
c.1263G= (p.Gln421=)
n.1590G=
c.1601G=
c.1613G=
c.403G=
c.1525G=
20g.37137938C>GCA408834261MROH8c.1521G>C (p.Gln507His)
c.1416G>C (p.Gln472His)
c.1263G>C (p.Gln421His)
n.1590G>C
c.1601G>C
c.1613G>C
c.403G>C
c.1525G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.37137938C>TCA510393335MROH8c.1521G>A (p.Gln507=)
c.1416G>A (p.Gln472=)
c.1263G>A (p.Gln421=)
n.1590G>A
c.1601G>A
c.1613G>A
c.403G>A
c.1525G>A
20g.37137939T>ACA9846355MROH8c.1520A>T (p.Gln507Leu)
c.1415A>T (p.Gln472Leu)
c.1262A>T (p.Gln421Leu)
n.1589A>T
c.1600A>T
c.1612A>T
c.402A>T
c.1524A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.37137939T>CCA408834263MROH8c.1520A>G (p.Gln507Arg)
c.1415A>G (p.Gln472Arg)
c.1262A>G (p.Gln421Arg)
n.1589A>G
c.1600A>G
c.1612A>G
c.402A>G
c.1524A>G
20g.37137939T>GCA408834264MROH8c.1520A>C (p.Gln507Pro)
c.1415A>C (p.Gln472Pro)
c.1262A>C (p.Gln421Pro)
n.1589A>C
c.1600A>C
c.1612A>C
c.402A>C
c.1524A>C
20g.37137939T=CA2362416913MROH8c.1520A= (p.Gln507=)
c.1415A= (p.Gln472=)
c.1262A= (p.Gln421=)
n.1589A=
c.1600A=
c.1612A=
c.402A=
c.1524A=
20g.37137940G>ACA408834265MROH8c.1519C>T (p.Gln507Ter)
c.1414C>T (p.Gln472Ter)
c.1261C>T (p.Gln421Ter)
n.1588C>T
c.1599C>T
c.1611C>T
c.401C>T
c.1523C>T
20g.37137940G>CCA408834266MROH8c.1519C>G (p.Gln507Glu)
c.1414C>G (p.Gln472Glu)
c.1261C>G (p.Gln421Glu)
n.1588C>G
c.1599C>G
c.1611C>G
c.401C>G
c.1523C>G
 gnomAD v4
20g.37137940G>TCA408834267MROH8c.1519C>A (p.Gln507Lys)
c.1414C>A (p.Gln472Lys)
c.1261C>A (p.Gln421Lys)
n.1588C>A
c.1599C>A
c.1611C>A
c.401C>A
c.1523C>A
20g.37137941G>ACA510393336MROH8c.1518C>T (p.Ala506=)
c.1413C>T (p.Ala471=)
c.1260C>T (p.Ala420=)
n.1587C>T
c.1598C>T
c.1610C>T
c.400C>T
c.1522C>T
20g.37137941G>CCA510393337MROH8c.1518C>G (p.Ala506=)
c.1413C>G (p.Ala471=)
c.1260C>G (p.Ala420=)
n.1587C>G
c.1598C>G
c.1610C>G
c.400C>G
c.1522C>G
20g.37137941G>TCA510393338MROH8c.1518C>A (p.Ala506=)
c.1413C>A (p.Ala471=)
c.1260C>A (p.Ala420=)
n.1587C>A
c.1598C>A
c.1610C>A
c.400C>A
c.1522C>A
20g.37137942G>ACA408834268MROH8c.1517C>T (p.Ala506Val)
c.1412C>T (p.Ala471Val)
c.1259C>T (p.Ala420Val)
n.1586C>T
c.1597C>T
c.1609C>T
c.399C>T
c.1521C>T
20g.37137942G>CCA408834270MROH8c.1517C>G (p.Ala506Gly)
c.1412C>G (p.Ala471Gly)
c.1259C>G (p.Ala420Gly)
n.1586C>G
c.1597C>G
c.1609C>G
c.399C>G
c.1521C>G
20g.37137942G>TCA408834269MROH8c.1517C>A (p.Ala506Asp)
c.1412C>A (p.Ala471Asp)
c.1259C>A (p.Ala420Asp)
n.1586C>A
c.1597C>A
c.1609C>A
c.399C>A
c.1521C>A
20g.37137943C>ACA408834271MROH8c.1516G>T (p.Ala506Ser)
c.1411G>T (p.Ala471Ser)
c.1258G>T (p.Ala420Ser)
n.1585G>T
c.1596G>T
c.1608G>T
c.398G>T
c.1520G>T
20g.37137943C>GCA408834272MROH8c.1516G>C (p.Ala506Pro)
c.1411G>C (p.Ala471Pro)
c.1258G>C (p.Ala420Pro)
n.1585G>C
c.1596G>C
c.1608G>C
c.398G>C
c.1520G>C
20g.37137943C>TCA408834273MROH8c.1516G>A (p.Ala506Thr)
c.1411G>A (p.Ala471Thr)
c.1258G>A (p.Ala420Thr)
n.1585G>A
c.1596G>A
c.1608G>A
c.398G>A
c.1520G>A
20g.37137944A>CCA408834274MROH8c.1515T>G (p.Cys505Trp)
c.1410T>G (p.Cys470Trp)
c.1257T>G (p.Cys419Trp)
n.1584T>G
c.1595T>G
c.1607T>G
c.397T>G
c.1519T>G
20g.37137944A>GCA510393339MROH8c.1515T>C (p.Cys505=)
c.1410T>C (p.Cys470=)
c.1257T>C (p.Cys419=)
n.1584T>C
c.1595T>C
c.1607T>C
c.397T>C
c.1519T>C
20g.37137944A>TCA408834275MROH8c.1515T>A (p.Cys505Ter)
c.1410T>A (p.Cys470Ter)
c.1257T>A (p.Cys419Ter)
n.1584T>A
c.1595T>A
c.1607T>A
c.397T>A
c.1519T>A
20g.37137945C>ACA408834276MROH8c.1514G>T (p.Cys505Phe)
c.1409G>T (p.Cys470Phe)
c.1256G>T (p.Cys419Phe)
n.1583G>T
c.1594G>T
c.1606G>T
c.396G>T
c.1518G>T
20g.37137945C=CA2362416914MROH8c.1514G= (p.Cys505=)
c.1409G= (p.Cys470=)
c.1256G= (p.Cys419=)
n.1583G=
c.1594G=
c.1606G=
c.396G=
c.1518G=
20g.37137945C>GCA408834277MROH8c.1514G>C (p.Cys505Ser)
c.1409G>C (p.Cys470Ser)
c.1256G>C (p.Cys419Ser)
n.1583G>C
c.1594G>C
c.1606G>C
c.396G>C
c.1518G>C
20g.37137945C>TCA408834278MROH8c.1514G>A (p.Cys505Tyr)
c.1409G>A (p.Cys470Tyr)
c.1256G>A (p.Cys419Tyr)
n.1583G>A
c.1594G>A
c.1606G>A
c.396G>A
c.1518G>A
 dbSNP gnomAD v2 gnomAD v4
20g.37137946A>CCA408834279MROH8c.1513T>G (p.Cys505Gly)
c.1408T>G (p.Cys470Gly)
c.1255T>G (p.Cys419Gly)
n.1582T>G
c.1593T>G
c.1605T>G
c.395T>G
c.1517T>G
20g.37137946A>GCA408834280MROH8c.1513T>C (p.Cys505Arg)
c.1408T>C (p.Cys470Arg)
c.1255T>C (p.Cys419Arg)
n.1582T>C
c.1593T>C
c.1605T>C
c.395T>C
c.1517T>C
20g.37137946A>TCA408834281MROH8c.1513T>A (p.Cys505Ser)
c.1408T>A (p.Cys470Ser)
c.1255T>A (p.Cys419Ser)
n.1582T>A
c.1593T>A
c.1605T>A
c.395T>A
c.1517T>A
20g.37137947G>ACA510393340MROH8c.1512C>T (p.Ile504=)
c.1407C>T (p.Ile469=)
c.1254C>T (p.Ile418=)
n.1581C>T
c.1592C>T
c.1604C>T
c.394C>T
c.1516C>T
20g.37137947G>CCA408834282MROH8c.1512C>G (p.Ile504Met)
c.1407C>G (p.Ile469Met)
c.1254C>G (p.Ile418Met)
n.1581C>G
c.1592C>G
c.1604C>G
c.394C>G
c.1516C>G
20g.37137947G>TCA510393341MROH8c.1512C>A (p.Ile504=)
c.1407C>A (p.Ile469=)
c.1254C>A (p.Ile418=)
n.1581C>A
c.1592C>A
c.1604C>A
c.394C>A
c.1516C>A
20g.37137948A=CA2362416915MROH8c.1511T= (p.Ile504=)
c.1406T= (p.Ile469=)
c.1253T= (p.Ile418=)
n.1580T=
c.1591T=
c.1603T=
c.393T=
c.1515T=
20g.37137948A>CCA408834284MROH8c.1511T>G (p.Ile504Ser)
c.1406T>G (p.Ile469Ser)
c.1253T>G (p.Ile418Ser)
n.1580T>G
c.1591T>G
c.1603T>G
c.393T>G
c.1515T>G
20g.37137948A>GCA9846356MROH8c.1511T>C (p.Ile504Thr)
c.1406T>C (p.Ile469Thr)
c.1253T>C (p.Ile418Thr)
n.1580T>C
c.1591T>C
c.1603T>C
c.393T>C
c.1515T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched