Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127420118T>A | CA360729974 | MEGF10 | c.1501T>A (p.Cys501Ser) c.1666T>A (p.Cys556Ser) c.361T>A (p.Cys121Ser) | |
5 | g.127420118T>C | CA360729975 | MEGF10 | c.1501T>C (p.Cys501Arg) c.1666T>C (p.Cys556Arg) c.361T>C (p.Cys121Arg) | |
5 | g.127420118T>G | CA360729976 | MEGF10 | c.1501T>G (p.Cys501Gly) c.1666T>G (p.Cys556Gly) c.361T>G (p.Cys121Gly) | |
5 | g.127420119G>A | CA360729978 | MEGF10 | c.1502G>A (p.Cys501Tyr) c.1667G>A (p.Cys556Tyr) c.362G>A (p.Cys121Tyr) | |
5 | g.127420119G>C | CA360729979 | MEGF10 | c.1502G>C (p.Cys501Ser) c.1667G>C (p.Cys556Ser) c.362G>C (p.Cys121Ser) | |
5 | g.127420119G>T | CA360729977 | MEGF10 | c.1502G>T (p.Cys501Phe) c.1667G>T (p.Cys556Phe) c.362G>T (p.Cys121Phe) | |
5 | g.127420120C>A | CA360729981 | MEGF10 | c.1503C>A (p.Cys501Ter) c.1668C>A (p.Cys556Ter) c.363C>A (p.Cys121Ter) | |
5 | g.127420120C>G | CA360729980 | MEGF10 | c.1503C>G (p.Cys501Trp) c.1668C>G (p.Cys556Trp) c.363C>G (p.Cys121Trp) | |
5 | g.127420120C>T | CA446285755 | MEGF10 | c.1503C>T (p.Cys501=) c.1668C>T (p.Cys556=) c.363C>T (p.Cys121=) | |
5 | g.127420121C>A | CA360729982 | MEGF10 | c.1504C>A (p.Leu502Ile) c.1669C>A (p.Leu557Ile) c.364C>A (p.Leu122Ile) | |
5 | g.127420121C= | CA1580843062 | MEGF10 | c.1504C= (p.Leu502=) c.1669C= (p.Leu557=) c.364C= (p.Leu122=) | |
5 | g.127420121C>G | CA3391593 | MEGF10 | c.1504C>G (p.Leu502Val) c.1669C>G (p.Leu557Val) c.364C>G (p.Leu122Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420121C>T | CA360729983 | MEGF10 | c.1504C>T (p.Leu502Phe) c.1669C>T (p.Leu557Phe) c.364C>T (p.Leu122Phe) | gnomAD v4 |
5 | g.127420122T>A | CA360729984 | MEGF10 | c.1505T>A (p.Leu502His) c.1670T>A (p.Leu557His) c.365T>A (p.Leu122His) | |
5 | g.127420122T>C | CA360729985 | MEGF10 | c.1505T>C (p.Leu502Pro) c.1670T>C (p.Leu557Pro) c.365T>C (p.Leu122Pro) | |
5 | g.127420122T>G | CA360729986 | MEGF10 | c.1505T>G (p.Leu502Arg) c.1670T>G (p.Leu557Arg) c.365T>G (p.Leu122Arg) | |
5 | g.127420123C>A | CA446285762 | MEGF10 | c.1506C>A (p.Leu502=) c.1671C>A (p.Leu557=) c.366C>A (p.Leu122=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420123C= | CA1580843064 | MEGF10 | c.1506C= (p.Leu502=) c.1671C= (p.Leu557=) c.366C= (p.Leu122=) | |
5 | g.127420123C>G | CA446285764 | MEGF10 | c.1506C>G (p.Leu502=) c.1671C>G (p.Leu557=) c.366C>G (p.Leu122=) | |
5 | g.127420123C>T | CA446285766 | MEGF10 | c.1506C>T (p.Leu502=) c.1671C>T (p.Leu557=) c.366C>T (p.Leu122=) | |
5 | g.127420124A= | CA1580843067 | MEGF10 | c.1507A= (p.Asn503=) c.1672A= (p.Asn558=) c.367A= (p.Asn123=) | |
5 | g.127420124A>C | CA360729989 | MEGF10 | c.1507A>C (p.Asn503His) c.1672A>C (p.Asn558His) c.367A>C (p.Asn123His) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420124A>G | CA360729987 | MEGF10 | c.1507A>G (p.Asn503Asp) c.1672A>G (p.Asn558Asp) c.367A>G (p.Asn123Asp) | |
5 | g.127420124A>T | CA360729988 | MEGF10 | c.1507A>T (p.Asn503Tyr) c.1672A>T (p.Asn558Tyr) c.367A>T (p.Asn123Tyr) | |
5 | g.127420125A= | CA1580843069 | MEGF10 | c.1508A= (p.Asn503=) c.1673A= (p.Asn558=) c.368A= (p.Asn123=) | |
5 | g.127420125A>C | CA360729990 | MEGF10 | c.1508A>C (p.Asn503Thr) c.1673A>C (p.Asn558Thr) c.368A>C (p.Asn123Thr) | |
5 | g.127420125A>G | CA3391594 | MEGF10 | c.1508A>G (p.Asn503Ser) c.1673A>G (p.Asn558Ser) c.368A>G (p.Asn123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420125A>T | CA360729991 | MEGF10 | c.1508A>T (p.Asn503Ile) c.1673A>T (p.Asn558Ile) c.368A>T (p.Asn123Ile) | |
5 | g.127420126C>A | CA126949216 | MEGF10 | c.1509C>A (p.Asn503Lys) c.1674C>A (p.Asn558Lys) c.369C>A (p.Asn123Lys) | dbSNP gnomAD v4 |
5 | g.127420126C= | CA1580843070 | MEGF10 | c.1509C= (p.Asn503=) c.1674C= (p.Asn558=) c.369C= (p.Asn123=) | |
5 | g.127420126C>G | CA360729992 | MEGF10 | c.1509C>G (p.Asn503Lys) c.1674C>G (p.Asn558Lys) c.369C>G (p.Asn123Lys) | |
5 | g.127420126C>T | CA3391595 | MEGF10 | c.1509C>T (p.Asn503=) c.1674C>T (p.Asn558=) c.369C>T (p.Asn123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420127G>A | CA3391596 | MEGF10 | c.1510G>A (p.Gly504Arg) c.1675G>A (p.Gly559Arg) c.370G>A (p.Gly124Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420127G>C | CA360729994 | MEGF10 | c.1510G>C (p.Gly504Arg) c.1675G>C (p.Gly559Arg) c.370G>C (p.Gly124Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420127G= | CA1580843072 | MEGF10 | c.1510G= (p.Gly504=) c.1675G= (p.Gly559=) c.370G= (p.Gly124=) | |
5 | g.127420127G>T | CA360729993 | MEGF10 | c.1510G>T (p.Gly504Trp) c.1675G>T (p.Gly559Trp) c.370G>T (p.Gly124Trp) | |
5 | g.127420131dup | CA2842407031 | MEGF10 | c.1514dup (p.Ala506SerfsTer?) c.1679dup (p.Ala561SerfsTer?) c.374dup (p.Ala126SerfsTer?) | |
5 | g.127420131del | CA2839851604 | MEGF10 | c.1514del (p.Gly505GlufsTer?) c.1679del (p.Gly560GlufsTer?) c.374del (p.Gly125GlufsTer?) | |
5 | g.127420128G>A | CA360729995 | MEGF10 | c.1511G>A (p.Gly504Glu) c.1676G>A (p.Gly559Glu) c.371G>A (p.Gly124Glu) | dbSNP gnomAD v4 COSMIC |
5 | g.127420128G>C | CA360729996 | MEGF10 | c.1511G>C (p.Gly504Ala) c.1676G>C (p.Gly559Ala) c.371G>C (p.Gly124Ala) | |
5 | g.127420128G= | CA1580843074 | MEGF10 | c.1511G= (p.Gly504=) c.1676G= (p.Gly559=) c.371G= (p.Gly124=) | |
5 | g.127420128G>T | CA360729997 | MEGF10 | c.1511G>T (p.Gly504Val) c.1676G>T (p.Gly559Val) c.371G>T (p.Gly124Val) | |
5 | g.127420129G>A | CA446285781 | MEGF10 | c.1512G>A (p.Gly504=) c.1677G>A (p.Gly559=) c.372G>A (p.Gly124=) | dbSNP gnomAD v4 |
5 | g.127420129G>C | CA446285784 | MEGF10 | c.1512G>C (p.Gly504=) c.1677G>C (p.Gly559=) c.372G>C (p.Gly124=) | |
5 | g.127420129G= | CA1580843078 | MEGF10 | c.1512G= (p.Gly504=) c.1677G= (p.Gly559=) c.372G= (p.Gly124=) | |
5 | g.127420129G>T | CA446285785 | MEGF10 | c.1512G>T (p.Gly504=) c.1677G>T (p.Gly559=) c.372G>T (p.Gly124=) | |
5 | g.127420130G>A | CA360729998 | MEGF10 | c.1513G>A (p.Gly505Arg) c.1678G>A (p.Gly560Arg) c.373G>A (p.Gly125Arg) | COSMIC |
5 | g.127420130G>C | CA360729999 | MEGF10 | c.1513G>C (p.Gly505Arg) c.1678G>C (p.Gly560Arg) c.373G>C (p.Gly125Arg) | |
5 | g.127420130G>T | CA360730000 | MEGF10 | c.1513G>T (p.Gly505Ter) c.1678G>T (p.Gly560Ter) c.373G>T (p.Gly125Ter) | |
5 | g.127420131G>A | CA3391597 | MEGF10 | c.1514G>A (p.Gly505Glu) c.1679G>A (p.Gly560Glu) c.374G>A (p.Gly125Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420131G>C | CA360730001 | MEGF10 | c.1514G>C (p.Gly505Ala) c.1679G>C (p.Gly560Ala) c.374G>C (p.Gly125Ala) | |
5 | g.127420131G= | CA1580843085 | MEGF10 | c.1514G= (p.Gly505=) c.1679G= (p.Gly560=) c.374G= (p.Gly125=) | |
5 | g.127420131G>T | CA360730002 | MEGF10 | c.1514G>T (p.Gly505Val) c.1679G>T (p.Gly560Val) c.374G>T (p.Gly125Val) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420132A>C | CA446285792 | MEGF10 | c.1515A>C (p.Gly505=) c.1680A>C (p.Gly560=) c.375A>C (p.Gly125=) | |
5 | g.127420132A>G | CA446285794 | MEGF10 | c.1515A>G (p.Gly505=) c.1680A>G (p.Gly560=) c.375A>G (p.Gly125=) | |
5 | g.127420132A>T | CA446285796 | MEGF10 | c.1515A>T (p.Gly505=) c.1680A>T (p.Gly560=) c.375A>T (p.Gly125=) | |
5 | g.127420133G>A | CA360730003 | MEGF10 | c.1516G>A (p.Ala506Thr) c.1681G>A (p.Ala561Thr) c.376G>A (p.Ala126Thr) | |
5 | g.127420133G>C | CA360730004 | MEGF10 | c.1516G>C (p.Ala506Pro) c.1681G>C (p.Ala561Pro) c.376G>C (p.Ala126Pro) | |
5 | g.127420133G>T | CA360730005 | MEGF10 | c.1516G>T (p.Ala506Ser) c.1681G>T (p.Ala561Ser) c.376G>T (p.Ala126Ser) | |
5 | g.127420134C>A | CA360730006 | MEGF10 | c.1517C>A (p.Ala506Asp) c.1682C>A (p.Ala561Asp) c.377C>A (p.Ala126Asp) | gnomAD v4 |
5 | g.127420134C= | CA1580843096 | MEGF10 | c.1517C= (p.Ala506=) c.1682C= (p.Ala561=) c.377C= (p.Ala126=) | |
5 | g.127420134C>G | CA360730008 | MEGF10 | c.1517C>G (p.Ala506Gly) c.1682C>G (p.Ala561Gly) c.377C>G (p.Ala126Gly) | ClinVar dbSNP |
5 | g.127420134C>T | CA360730007 | MEGF10 | c.1517C>T (p.Ala506Val) c.1682C>T (p.Ala561Val) c.377C>T (p.Ala126Val) | |
5 | g.127420135_127420145del | CA2573138717 | MEGF10 | c.1518_1528del (p.Cys507GlyfsTer?) c.1683_1693del (p.Cys562GlyfsTer?) c.378_388del (p.Cys127GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
5 | g.127420135C>A | CA446285811 | MEGF10 | c.1518C>A (p.Ala506=) c.1683C>A (p.Ala561=) c.378C>A (p.Ala126=) | |
5 | g.127420135C= | CA1580843101 | MEGF10 | c.1518C= (p.Ala506=) c.1683C= (p.Ala561=) c.378C= (p.Ala126=) | |
5 | g.127420135C>G | CA446285808 | MEGF10 | c.1518C>G (p.Ala506=) c.1683C>G (p.Ala561=) c.378C>G (p.Ala126=) | |
5 | g.127420135C>T | CA446285806 | MEGF10 | c.1518C>T (p.Ala506=) c.1683C>T (p.Ala561=) c.378C>T (p.Ala126=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420136T>A | CA360730009 | MEGF10 | c.1519T>A (p.Cys507Ser) c.1684T>A (p.Cys562Ser) c.379T>A (p.Cys127Ser) | gnomAD v4 |
5 | g.127420136T>C | CA360730010 | MEGF10 | c.1519T>C (p.Cys507Arg) c.1684T>C (p.Cys562Arg) c.379T>C (p.Cys127Arg) | |
5 | g.127420136T>G | CA360730011 | MEGF10 | c.1519T>G (p.Cys507Gly) c.1684T>G (p.Cys562Gly) c.379T>G (p.Cys127Gly) | |
5 | g.127420137G>A | CA360730012 | MEGF10 | c.1520G>A (p.Cys507Tyr) c.1685G>A (p.Cys562Tyr) c.380G>A (p.Cys127Tyr) | |
5 | g.127420137G>C | CA360730014 | MEGF10 | c.1520G>C (p.Cys507Ser) c.1685G>C (p.Cys562Ser) c.380G>C (p.Cys127Ser) | |
5 | g.127420137G>T | CA360730016 | MEGF10 | c.1520G>T (p.Cys507Phe) c.1685G>T (p.Cys562Phe) c.380G>T (p.Cys127Phe) | |
5 | g.127420138C>A | CA360730018 | MEGF10 | c.1521C>A (p.Cys507Ter) c.1686C>A (p.Cys562Ter) c.381C>A (p.Cys127Ter) | |
5 | g.127420138C>G | CA360730019 | MEGF10 | c.1521C>G (p.Cys507Trp) c.1686C>G (p.Cys562Trp) c.381C>G (p.Cys127Trp) | |
5 | g.127420138C>T | CA446285828 | MEGF10 | c.1521C>T (p.Cys507=) c.1686C>T (p.Cys562=) c.381C>T (p.Cys127=) | |
5 | g.127420139A>C | CA360730022 | MEGF10 | c.1522A>C (p.Asn508His) c.1687A>C (p.Asn563His) c.382A>C (p.Asn128His) | |
5 | g.127420139A>G | CA360730024 | MEGF10 | c.1522A>G (p.Asn508Asp) c.1687A>G (p.Asn563Asp) c.382A>G (p.Asn128Asp) | |
5 | g.127420139A>T | CA360730025 | MEGF10 | c.1522A>T (p.Asn508Tyr) c.1687A>T (p.Asn563Tyr) c.382A>T (p.Asn128Tyr) | |
5 | g.127420140A= | CA1580843104 | MEGF10 | c.1523A= (p.Asn508=) c.1688A= (p.Asn563=) c.383A= (p.Asn128=) | |
5 | g.127420140A>C | CA360730028 | MEGF10 | c.1523A>C (p.Asn508Thr) c.1688A>C (p.Asn563Thr) c.383A>C (p.Asn128Thr) | |
5 | g.127420140A>G | CA3391598 | MEGF10 | c.1523A>G (p.Asn508Ser) c.1688A>G (p.Asn563Ser) c.383A>G (p.Asn128Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420140A>T | CA360730030 | MEGF10 | c.1523A>T (p.Asn508Ile) c.1688A>T (p.Asn563Ile) c.383A>T (p.Asn128Ile) | |
5 | g.127420141C>A | CA360730032 | MEGF10 | c.1524C>A (p.Asn508Lys) c.1689C>A (p.Asn563Lys) c.384C>A (p.Asn128Lys) | COSMIC |
5 | g.127420141C= | CA1580843109 | MEGF10 | c.1524C= (p.Asn508=) c.1689C= (p.Asn563=) c.384C= (p.Asn128=) | |
5 | g.127420141C>G | CA360730034 | MEGF10 | c.1524C>G (p.Asn508Lys) c.1689C>G (p.Asn563Lys) c.384C>G (p.Asn128Lys) | |
5 | g.127420141C>T | CA446285833 | MEGF10 | c.1524C>T (p.Asn508=) c.1689C>T (p.Asn563=) c.384C>T (p.Asn128=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420142A>C | CA360730037 | MEGF10 | c.1525A>C (p.Thr509Pro) c.1690A>C (p.Thr564Pro) c.385A>C (p.Thr129Pro) | |
5 | g.127420142A>G | CA360730038 | MEGF10 | c.1525A>G (p.Thr509Ala) c.1690A>G (p.Thr564Ala) c.385A>G (p.Thr129Ala) | |
5 | g.127420142A>T | CA360730040 | MEGF10 | c.1525A>T (p.Thr509Ser) c.1690A>T (p.Thr564Ser) c.385A>T (p.Thr129Ser) | |
5 | g.127420143C>A | CA360730041 | MEGF10 | c.1526C>A (p.Thr509Asn) c.1691C>A (p.Thr564Asn) c.386C>A (p.Thr129Asn) | |
5 | g.127420143C= | CA1580843114 | MEGF10 | c.1526C= (p.Thr509=) c.1691C= (p.Thr564=) c.386C= (p.Thr129=) | |
5 | g.127420143C>G | CA360730043 | MEGF10 | c.1526C>G (p.Thr509Ser) c.1691C>G (p.Thr564Ser) c.386C>G (p.Thr129Ser) | |
5 | g.127420143C>T | CA3391599 | MEGF10 | c.1526C>T (p.Thr509Ile) c.1691C>T (p.Thr564Ile) c.386C>T (p.Thr129Ile) | dbSNP ExAC gnomAD v2 |
5 | g.127420144C>A | CA446285850 | MEGF10 | c.1527C>A (p.Thr509=) c.1692C>A (p.Thr564=) c.387C>A (p.Thr129=) | |
5 | g.127420144C>G | CA446285853 | MEGF10 | c.1527C>G (p.Thr509=) c.1692C>G (p.Thr564=) c.387C>G (p.Thr129=) | |
5 | g.127420144C>T | CA446285852 | MEGF10 | c.1527C>T (p.Thr509=) c.1692C>T (p.Thr564=) c.387C>T (p.Thr129=) | gnomAD v4 |
5 | g.127420145C>A | CA360730046 | MEGF10 | c.1528C>A (p.Leu510Met) c.1693C>A (p.Leu565Met) c.388C>A (p.Leu130Met) | |
5 | g.127420145C>G | CA360730048 | MEGF10 | c.1528C>G (p.Leu510Val) c.1693C>G (p.Leu565Val) c.388C>G (p.Leu130Val) | |
5 | g.127420145C>T | CA446285856 | MEGF10 | c.1528C>T (p.Leu510=) c.1693C>T (p.Leu565=) c.388C>T (p.Leu130=) | |
5 | g.127420146T>A | CA360730051 | MEGF10 | c.1529T>A (p.Leu510Gln) c.1694T>A (p.Leu565Gln) c.389T>A (p.Leu130Gln) | |
5 | g.127420146T>C | CA360730052 | MEGF10 | c.1529T>C (p.Leu510Pro) c.1694T>C (p.Leu565Pro) c.389T>C (p.Leu130Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420146T>G | CA360730055 | MEGF10 | c.1529T>G (p.Leu510Arg) c.1694T>G (p.Leu565Arg) c.389T>G (p.Leu130Arg) | |
5 | g.127420146T= | CA1580843117 | MEGF10 | c.1529T= (p.Leu510=) c.1694T= (p.Leu565=) c.389T= (p.Leu130=) | |
5 | g.127420146_127420151delinsTGGACG | CA1580843118 | MEGF10 | c.1529_1534delinsTGGACG (p.Leu510=) c.1694_1699delinsTGGACG (p.Leu565=) c.389_394delinsTGGACG (p.Leu130=) | |
5 | g.127420147G>A | CA446285860 | MEGF10 | c.1530G>A (p.Leu510=) c.1695G>A (p.Leu565=) c.390G>A (p.Leu130=) | |
5 | g.127420147G>C | CA446285861 | MEGF10 | c.1530G>C (p.Leu510=) c.1695G>C (p.Leu565=) c.390G>C (p.Leu130=) | |
5 | g.127420147G>T | CA446285863 | MEGF10 | c.1530G>T (p.Leu510=) c.1695G>T (p.Leu565=) c.390G>T (p.Leu130=) | |
5 | g.127420151_127420155del | CA1580843120 | MEGF10 | c.1534_1538del (p.Gly512LeufsTer27) c.1699_1703del (p.Gly567LeufsTer27) c.394_398del (p.Gly132LeufsTer27) | dbSNP gnomAD v4 |
5 | g.127420148G>A | CA360730057 | MEGF10 | c.1531G>A (p.Asp511Asn) c.1696G>A (p.Asp566Asn) c.391G>A (p.Asp131Asn) | dbSNP gnomAD v2 |
5 | g.127420148G>C | CA360730061 | MEGF10 | c.1531G>C (p.Asp511His) c.1696G>C (p.Asp566His) c.391G>C (p.Asp131His) | |
5 | g.127420148G= | CA1580843123 | MEGF10 | c.1531G= (p.Asp511=) c.1696G= (p.Asp566=) c.391G= (p.Asp131=) | |
5 | g.127420148G>T | CA360730059 | MEGF10 | c.1531G>T (p.Asp511Tyr) c.1696G>T (p.Asp566Tyr) c.391G>T (p.Asp131Tyr) | |
5 | g.127420149A>C | CA360730063 | MEGF10 | c.1532A>C (p.Asp511Ala) c.1697A>C (p.Asp566Ala) c.392A>C (p.Asp131Ala) | dbSNP |
5 | g.127420149A>G | CA360730065 | MEGF10 | c.1532A>G (p.Asp511Gly) c.1697A>G (p.Asp566Gly) c.392A>G (p.Asp131Gly) | |
5 | g.127420149A>T | CA360730067 | MEGF10 | c.1532A>T (p.Asp511Val) c.1697A>T (p.Asp566Val) c.392A>T (p.Asp131Val) | |
5 | g.127420150C>A | CA3391601 | MEGF10 | c.1533C>A (p.Asp511Glu) c.1698C>A (p.Asp566Glu) c.393C>A (p.Asp131Glu) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.127420150C= | CA1580843127 | MEGF10 | c.1533C= (p.Asp511=) c.1698C= (p.Asp566=) c.393C= (p.Asp131=) | |
5 | g.127420150C>G | CA360730071 | MEGF10 | c.1533C>G (p.Asp511Glu) c.1698C>G (p.Asp566Glu) c.393C>G (p.Asp131Glu) | ClinVar dbSNP |
5 | g.127420150C>T | CA3391600 | MEGF10 | c.1533C>T (p.Asp511=) c.1698C>T (p.Asp566=) c.393C>T (p.Asp131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420151G>A | CA3391602 | MEGF10 | c.1534G>A (p.Gly512Arg) c.1699G>A (p.Gly567Arg) c.394G>A (p.Gly132Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420151G>C | CA360730077 | MEGF10 | c.1534G>C (p.Gly512Arg) c.1699G>C (p.Gly567Arg) c.394G>C (p.Gly132Arg) | |
5 | g.127420151G= | CA1580843135 | MEGF10 | c.1534G= (p.Gly512=) c.1699G= (p.Gly567=) c.394G= (p.Gly132=) | |
5 | g.127420151G>T | CA360730074 | MEGF10 | c.1534G>T (p.Gly512Trp) c.1699G>T (p.Gly567Trp) c.394G>T (p.Gly132Trp) | |
5 | g.127420152G>A | CA360730079 | MEGF10 | c.1535G>A (p.Gly512Glu) c.1700G>A (p.Gly567Glu) c.395G>A (p.Gly132Glu) | |
5 | g.127420152G>C | CA360730081 | MEGF10 | c.1535G>C (p.Gly512Ala) c.1700G>C (p.Gly567Ala) c.395G>C (p.Gly132Ala) | |
5 | g.127420152G>T | CA360730083 | MEGF10 | c.1535G>T (p.Gly512Val) c.1700G>T (p.Gly567Val) c.395G>T (p.Gly132Val) | |
5 | g.127420153G>A | CA446285882 | MEGF10 | c.1536G>A (p.Gly512=) c.1701G>A (p.Gly567=) c.396G>A (p.Gly132=) | |
5 | g.127420153G>C | CA446285883 | MEGF10 | c.1536G>C (p.Gly512=) c.1701G>C (p.Gly567=) c.396G>C (p.Gly132=) | |
5 | g.127420153G= | CA1580843139 | MEGF10 | c.1536G= (p.Gly512=) c.1701G= (p.Gly567=) c.396G= (p.Gly132=) | |
5 | g.127420153G>T | CA446285885 | MEGF10 | c.1536G>T (p.Gly512=) c.1701G>T (p.Gly567=) c.396G>T (p.Gly132=) | ClinVar dbSNP |
5 | g.127420154A>C | CA360730086 | MEGF10 | c.1537A>C (p.Thr513Pro) c.1702A>C (p.Thr568Pro) c.397A>C (p.Thr133Pro) | |
5 | g.127420154A>G | CA360730088 | MEGF10 | c.1537A>G (p.Thr513Ala) c.1702A>G (p.Thr568Ala) c.397A>G (p.Thr133Ala) | |
5 | g.127420154A>T | CA360730089 | MEGF10 | c.1537A>T (p.Thr513Ser) c.1702A>T (p.Thr568Ser) c.397A>T (p.Thr133Ser) | |
5 | g.127420155C>A | CA360730092 | MEGF10 | c.1538C>A (p.Thr513Asn) c.1703C>A (p.Thr568Asn) c.398C>A (p.Thr133Asn) | |
5 | g.127420155C>G | CA360730096 | MEGF10 | c.1538C>G (p.Thr513Ser) c.1703C>G (p.Thr568Ser) c.398C>G (p.Thr133Ser) | |
5 | g.127420155C>T | CA360730094 | MEGF10 | c.1538C>T (p.Thr513Ile) c.1703C>T (p.Thr568Ile) c.398C>T (p.Thr133Ile) | |
5 | g.127420156C>A | CA446285891 | MEGF10 | c.1539C>A (p.Thr513=) c.1704C>A (p.Thr568=) c.399C>A (p.Thr133=) | |
5 | g.127420156C= | CA1580843140 | MEGF10 | c.1539C= (p.Thr513=) c.1704C= (p.Thr568=) c.399C= (p.Thr133=) | |
5 | g.127420156C>G | CA446285892 | MEGF10 | c.1539C>G (p.Thr513=) c.1704C>G (p.Thr568=) c.399C>G (p.Thr133=) | |
5 | g.127420156C>T | CA446285894 | MEGF10 | c.1539C>T (p.Thr513=) c.1704C>T (p.Thr568=) c.399C>T (p.Thr133=) | dbSNP |
5 | g.127420157T>A | CA360730098 | MEGF10 | c.1540T>A (p.Cys514Ser) c.1705T>A (p.Cys569Ser) c.400T>A (p.Cys134Ser) | ClinVar dbSNP |
5 | g.127420157T>C | CA360730101 | MEGF10 | c.1540T>C (p.Cys514Arg) c.1705T>C (p.Cys569Arg) c.400T>C (p.Cys134Arg) | |
5 | g.127420157T>G | CA360730103 | MEGF10 | c.1540T>G (p.Cys514Gly) c.1705T>G (p.Cys569Gly) c.400T>G (p.Cys134Gly) | |
5 | g.127420158G>A | CA360730105 | MEGF10 | c.1541G>A (p.Cys514Tyr) c.1706G>A (p.Cys569Tyr) c.401G>A (p.Cys134Tyr) | |
5 | g.127420158G>C | CA360730107 | MEGF10 | c.1541G>C (p.Cys514Ser) c.1706G>C (p.Cys569Ser) c.401G>C (p.Cys134Ser) | |
5 | g.127420158G>T | CA360730109 | MEGF10 | c.1541G>T (p.Cys514Phe) c.1706G>T (p.Cys569Phe) c.401G>T (p.Cys134Phe) | gnomAD v4 |
5 | g.127420159C>A | CA360730111 | MEGF10 | c.1542C>A (p.Cys514Ter) c.1707C>A (p.Cys569Ter) c.402C>A (p.Cys134Ter) | |
5 | g.127420159C>G | CA360730113 | MEGF10 | c.1542C>G (p.Cys514Trp) c.1707C>G (p.Cys569Trp) c.402C>G (p.Cys134Trp) | |
5 | g.127420159C>T | CA446285901 | MEGF10 | c.1542C>T (p.Cys514=) c.1707C>T (p.Cys569=) c.402C>T (p.Cys134=) | |
5 | g.127420160A>C | CA360730115 | MEGF10 | c.1543A>C (p.Thr515Pro) c.1708A>C (p.Thr570Pro) c.403A>C (p.Thr135Pro) | gnomAD v4 |
5 | g.127420160A>G | CA360730117 | MEGF10 | c.1543A>G (p.Thr515Ala) c.1708A>G (p.Thr570Ala) c.403A>G (p.Thr135Ala) | |
5 | g.127420160A>T | CA360730119 | MEGF10 | c.1543A>T (p.Thr515Ser) c.1708A>T (p.Thr570Ser) c.403A>T (p.Thr135Ser) | |
5 | g.127420161C>A | CA360730122 | MEGF10 | c.1544C>A (p.Thr515Lys) c.1709C>A (p.Thr570Lys) c.404C>A (p.Thr135Lys) | |
5 | g.127420161C= | CA1580843144 | MEGF10 | c.1544C= (p.Thr515=) c.1709C= (p.Thr570=) c.404C= (p.Thr135=) | |
5 | g.127420161C>G | CA360730125 | MEGF10 | c.1544C>G (p.Thr515Arg) c.1709C>G (p.Thr570Arg) c.404C>G (p.Thr135Arg) | |
5 | g.127420161C>T | CA3391603 | MEGF10 | c.1544C>T (p.Thr515Met) c.1709C>T (p.Thr570Met) c.404C>T (p.Thr135Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420162G>A | CA3391605 | MEGF10 | c.1545G>A (p.Thr515=) c.1710G>A (p.Thr570=) c.405G>A (p.Thr135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.127420162G>C | CA446285908 | MEGF10 | c.1545G>C (p.Thr515=) c.1710G>C (p.Thr570=) c.405G>C (p.Thr135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420162G= | CA1580843155 | MEGF10 | c.1545G= (p.Thr515=) c.1710G= (p.Thr570=) c.405G= (p.Thr135=) | |
5 | g.127420162G>T | CA3391604 | MEGF10 | c.1545G>T (p.Thr515=) c.1710G>T (p.Thr570=) c.405G>T (p.Thr135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420163T>A | CA360730129 | MEGF10 | c.1546T>A (p.Cys516Ser) c.1711T>A (p.Cys571Ser) c.406T>A (p.Cys136Ser) | |
5 | g.127420163T>C | CA360730130 | MEGF10 | c.1546T>C (p.Cys516Arg) c.1711T>C (p.Cys571Arg) c.406T>C (p.Cys136Arg) | |
5 | g.127420163T>G | CA360730132 | MEGF10 | c.1546T>G (p.Cys516Gly) c.1711T>G (p.Cys571Gly) c.406T>G (p.Cys136Gly) | |
5 | g.127420164G>A | CA360730135 | MEGF10 | c.1547G>A (p.Cys516Tyr) c.1712G>A (p.Cys571Tyr) c.407G>A (p.Cys136Tyr) | dbSNP |
5 | g.127420164G>C | CA360730136 | MEGF10 | c.1547G>C (p.Cys516Ser) c.1712G>C (p.Cys571Ser) c.407G>C (p.Cys136Ser) | |
5 | g.127420164G= | CA1580843159 | MEGF10 | c.1547G= (p.Cys516=) c.1712G= (p.Cys571=) c.407G= (p.Cys136=) | |
5 | g.127420164G>T | CA360730138 | MEGF10 | c.1547G>T (p.Cys516Phe) c.1712G>T (p.Cys571Phe) c.407G>T (p.Cys136Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420165T>A | CA360730141 | MEGF10 | c.1548T>A (p.Cys516Ter) c.1713T>A (p.Cys571Ter) c.408T>A (p.Cys136Ter) | |
5 | g.127420165T>C | CA3391606 | MEGF10 | c.1548T>C (p.Cys516=) c.1713T>C (p.Cys571=) c.408T>C (p.Cys136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420165T>G | CA360730144 | MEGF10 | c.1548T>G (p.Cys516Trp) c.1713T>G (p.Cys571Trp) c.408T>G (p.Cys136Trp) | |
5 | g.127420165T= | CA1580843163 | MEGF10 | c.1548T= (p.Cys516=) c.1713T= (p.Cys571=) c.408T= (p.Cys136=) | |
5 | g.127420166G>A | CA360730150 | MEGF10 | c.1549G>A (p.Ala517Thr) c.1714G>A (p.Ala572Thr) c.409G>A (p.Ala137Thr) | |
5 | g.127420166G>C | CA360730148 | MEGF10 | c.1549G>C (p.Ala517Pro) c.1714G>C (p.Ala572Pro) c.409G>C (p.Ala137Pro) | |
5 | g.127420166G>T | CA360730146 | MEGF10 | c.1549G>T (p.Ala517Ser) c.1714G>T (p.Ala572Ser) c.409G>T (p.Ala137Ser) | |
5 | g.127420167C>A | CA360730153 | MEGF10 | c.1550C>A (p.Ala517Glu) c.1715C>A (p.Ala572Glu) c.410C>A (p.Ala137Glu) | |
5 | g.127420167C>G | CA360730155 | MEGF10 | c.1550C>G (p.Ala517Gly) c.1715C>G (p.Ala572Gly) c.410C>G (p.Ala137Gly) | |
5 | g.127420167C>T | CA360730156 | MEGF10 | c.1550C>T (p.Ala517Val) c.1715C>T (p.Ala572Val) c.410C>T (p.Ala137Val) | COSMIC |
5 | g.127420168A>C | CA446285925 | MEGF10 | c.1551A>C (p.Ala517=) c.1716A>C (p.Ala572=) c.411A>C (p.Ala137=) | |
5 | g.127420168A>G | CA446285928 | MEGF10 | c.1551A>G (p.Ala517=) c.1716A>G (p.Ala572=) c.411A>G (p.Ala137=) | |
5 | g.127420168A>T | CA446285929 | MEGF10 | c.1551A>T (p.Ala517=) c.1716A>T (p.Ala572=) c.411A>T (p.Ala137=) | |
5 | g.127420169C>A | CA360730158 | MEGF10 | c.1552C>A (p.Pro518Thr) c.1717C>A (p.Pro573Thr) c.412C>A (p.Pro138Thr) | |
5 | g.127420169C= | CA1580843170 | MEGF10 | c.1552C= (p.Pro518=) c.1717C= (p.Pro573=) c.412C= (p.Pro138=) | |
5 | g.127420169C>G | CA360730160 | MEGF10 | c.1552C>G (p.Pro518Ala) c.1717C>G (p.Pro573Ala) c.412C>G (p.Pro138Ala) | |
5 | g.127420169C>T | CA3391607 | MEGF10 | c.1552C>T (p.Pro518Ser) c.1717C>T (p.Pro573Ser) c.412C>T (p.Pro138Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420170C>A | CA360730163 | MEGF10 | c.1553C>A (p.Pro518His) c.1718C>A (p.Pro573His) c.413C>A (p.Pro138His) | |
5 | g.127420170C= | CA1580843173 | MEGF10 | c.1553C= (p.Pro518=) c.1718C= (p.Pro573=) c.413C= (p.Pro138=) | |
5 | g.127420170C>G | CA360730165 | MEGF10 | c.1553C>G (p.Pro518Arg) c.1718C>G (p.Pro573Arg) c.413C>G (p.Pro138Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420170C>T | CA360730167 | MEGF10 | c.1553C>T (p.Pro518Leu) c.1718C>T (p.Pro573Leu) c.413C>T (p.Pro138Leu) | |
5 | g.127420171T>A | CA446285937 | MEGF10 | c.1554T>A (p.Pro518=) c.1719T>A (p.Pro573=) c.414T>A (p.Pro138=) | |
5 | g.127420171T>C | CA3391608 | MEGF10 | c.1554T>C (p.Pro518=) c.1719T>C (p.Pro573=) c.414T>C (p.Pro138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420171T>G | CA446285948 | MEGF10 | c.1554T>G (p.Pro518=) c.1719T>G (p.Pro573=) c.414T>G (p.Pro138=) | |
5 | g.127420171T= | CA1580843174 | MEGF10 | c.1554T= (p.Pro518=) c.1719T= (p.Pro573=) c.414T= (p.Pro138=) | |
5 | g.127420172G>A | CA360730171 | MEGF10 | c.1555G>A (p.Gly519Arg) c.1720G>A (p.Gly574Arg) c.415G>A (p.Gly139Arg) | |
5 | g.127420172G>C | CA360730173 | MEGF10 | c.1555G>C (p.Gly519Arg) c.1720G>C (p.Gly574Arg) c.415G>C (p.Gly139Arg) | |
5 | g.127420172G>T | CA360730174 | MEGF10 | c.1555G>T (p.Gly519Ter) c.1720G>T (p.Gly574Ter) c.415G>T (p.Gly139Ter) | |
5 | g.127420173G>A | CA360730179 | MEGF10 | c.1556G>A (p.Gly519Glu) c.1721G>A (p.Gly574Glu) c.416G>A (p.Gly139Glu) | |
5 | g.127420173G>C | CA360730181 | MEGF10 | c.1556G>C (p.Gly519Ala) c.1721G>C (p.Gly574Ala) c.416G>C (p.Gly139Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420173G= | CA1580843177 | MEGF10 | c.1556G= (p.Gly519=) c.1721G= (p.Gly574=) c.416G= (p.Gly139=) | |
5 | g.127420173G>T | CA360730178 | MEGF10 | c.1556G>T (p.Gly519Val) c.1721G>T (p.Gly574Val) c.416G>T (p.Gly139Val) | COSMIC |
5 | g.127420173_127420174delinsGA | CA1580843179 | MEGF10 | c.1556_1557delinsGA (p.Gly519=) c.1721_1722delinsGA (p.Gly574=) c.416_417delinsGA (p.Gly139=) | |
5 | g.127420174del | CA16043660 | MEGF10 | c.1557del (p.Trp520GlyfsTer17) c.1722del (p.Trp575GlyfsTer17) c.417del (p.Trp140GlyfsTer17) | ClinVar dbSNP |
5 | g.127420174A>C | CA446285957 | MEGF10 | c.1557A>C (p.Gly519=) c.1722A>C (p.Gly574=) c.417A>C (p.Gly139=) | gnomAD v4 |
5 | g.127420174A>G | CA446285958 | MEGF10 | c.1557A>G (p.Gly519=) c.1722A>G (p.Gly574=) c.417A>G (p.Gly139=) | |
5 | g.127420174A>T | CA446285955 | MEGF10 | c.1557A>T (p.Gly519=) c.1722A>T (p.Gly574=) c.417A>T (p.Gly139=) | |
5 | g.127420175T>A | CA3391609 | MEGF10 | c.1558T>A (p.Trp520Arg) c.1723T>A (p.Trp575Arg) c.418T>A (p.Trp140Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420175T>C | CA360730188 | MEGF10 | c.1558T>C (p.Trp520Arg) c.1723T>C (p.Trp575Arg) c.418T>C (p.Trp140Arg) | |
5 | g.127420175T>G | CA360730186 | MEGF10 | c.1558T>G (p.Trp520Gly) c.1723T>G (p.Trp575Gly) c.418T>G (p.Trp140Gly) | |
5 | g.127420175T= | CA1580843188 | MEGF10 | c.1558T= (p.Trp520=) c.1723T= (p.Trp575=) c.418T= (p.Trp140=) | |
5 | g.127420176G>A | CA129565 | MEGF10 | c.1559G>A (p.Trp520Ter) c.1724G>A (p.Trp575Ter) c.419G>A (p.Trp140Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420176G>C | CA360730192 | MEGF10 | c.1559G>C (p.Trp520Ser) c.1724G>C (p.Trp575Ser) c.419G>C (p.Trp140Ser) | |
5 | g.127420176G= | CA1580843196 | MEGF10 | c.1559G= (p.Trp520=) c.1724G= (p.Trp575=) c.419G= (p.Trp140=) | |
5 | g.127420176G>T | CA360730193 | MEGF10 | c.1559G>T (p.Trp520Leu) c.1724G>T (p.Trp575Leu) c.419G>T (p.Trp140Leu) | |
5 | g.127420177G>A | CA360730196 | MEGF10 | c.1560G>A (p.Trp520Ter) c.1725G>A (p.Trp575Ter) c.420G>A (p.Trp140Ter) | |
5 | g.127420177G>C | CA360730197 | MEGF10 | c.1560G>C (p.Trp520Cys) c.1725G>C (p.Trp575Cys) c.420G>C (p.Trp140Cys) | |
5 | g.127420177G>T | CA360730198 | MEGF10 | c.1560G>T (p.Trp520Cys) c.1725G>T (p.Trp575Cys) c.420G>T (p.Trp140Cys) | |
5 | g.127420178C>A | CA360730201 | MEGF10 | c.1561C>A (p.Arg521Ser) c.1726C>A (p.Arg576Ser) c.421C>A (p.Arg141Ser) | |
5 | g.127420178C= | CA1580843201 | MEGF10 | c.1561C= (p.Arg521=) c.1726C= (p.Arg576=) c.421C= (p.Arg141=) | |
5 | g.127420178C>G | CA360730203 | MEGF10 | c.1561C>G (p.Arg521Gly) c.1726C>G (p.Arg576Gly) c.421C>G (p.Arg141Gly) | dbSNP |
5 | g.127420178C>T | CA360730204 | MEGF10 | c.1561C>T (p.Arg521Cys) c.1726C>T (p.Arg576Cys) c.421C>T (p.Arg141Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.127420179G>A | CA3391610 | MEGF10 | c.1562G>A (p.Arg521His) c.1727G>A (p.Arg576His) c.422G>A (p.Arg141His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420179G>C | CA360730208 | MEGF10 | c.1562G>C (p.Arg521Pro) c.1727G>C (p.Arg576Pro) c.422G>C (p.Arg141Pro) | ClinVar dbSNP |
5 | g.127420179G= | CA1580843207 | MEGF10 | c.1562G= (p.Arg521=) c.1727G= (p.Arg576=) c.422G= (p.Arg141=) | |
5 | g.127420179G>T | CA360730210 | MEGF10 | c.1562G>T (p.Arg521Leu) c.1727G>T (p.Arg576Leu) c.422G>T (p.Arg141Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420180C>A | CA446285970 | MEGF10 | c.1563C>A (p.Arg521=) c.1728C>A (p.Arg576=) c.423C>A (p.Arg141=) | |
5 | g.127420180C= | CA1580843213 | MEGF10 | c.1563C= (p.Arg521=) c.1728C= (p.Arg576=) c.423C= (p.Arg141=) | |
5 | g.127420180C>G | CA126949374 | MEGF10 | c.1563C>G (p.Arg521=) c.1728C>G (p.Arg576=) c.423C>G (p.Arg141=) | dbSNP |
5 | g.127420180C>T | CA3391611 | MEGF10 | c.1563C>T (p.Arg521=) c.1728C>T (p.Arg576=) c.423C>T (p.Arg141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G>A | CA3391612 | MEGF10 | c.1564G>A (p.Gly522Arg) c.1729G>A (p.Gly577Arg) c.424G>A (p.Gly142Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G>C | CA3391613 | MEGF10 | c.1564G>C (p.Gly522Arg) c.1729G>C (p.Gly577Arg) c.424G>C (p.Gly142Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420181G= | CA1580843221 | MEGF10 | c.1564G= (p.Gly522=) c.1729G= (p.Gly577=) c.424G= (p.Gly142=) | |
5 | g.127420181G>T | CA3391614 | MEGF10 | c.1564G>T (p.Gly522Trp) c.1729G>T (p.Gly577Trp) c.424G>T (p.Gly142Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420184dup | CA2838959466 | MEGF10 | c.1567dup (p.Glu523GlyfsTer18) c.1732dup (p.Glu578GlyfsTer18) c.427dup (p.Glu143GlyfsTer18) | |
5 | g.127420182G>A | CA360730218 | MEGF10 | c.1565G>A (p.Gly522Glu) c.1730G>A (p.Gly577Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420182G>C | CA3391615 | MEGF10 | c.1565G>C (p.Gly522Ala) c.1730G>C (p.Gly577Ala) c.425G>C (p.Gly142Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420182G= | CA1580843225 | MEGF10 | c.1565G= (p.Gly522=) c.1730G= (p.Gly577=) c.425G= (p.Gly142=) | |
5 | g.127420182G>T | CA360730221 | MEGF10 | c.1565G>T (p.Gly522Val) c.1730G>T (p.Gly577Val) c.425G>T (p.Gly142Val) | |
5 | g.127420183G>A | CA446285978 | MEGF10 | c.1566G>A (p.Gly522=) c.1731G>A (p.Gly577=) c.426G>A (p.Gly142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420183G>C | CA446285980 | MEGF10 | c.1566G>C (p.Gly522=) c.1731G>C (p.Gly577=) c.426G>C (p.Gly142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420183G= | CA1580843228 | MEGF10 | c.1566G= (p.Gly522=) c.1731G= (p.Gly577=) c.426G= (p.Gly142=) | |
5 | g.127420183G>T | CA446285982 | MEGF10 | c.1566G>T (p.Gly522=) c.1731G>T (p.Gly577=) c.426G>T (p.Gly142=) | gnomAD v4 |
5 | g.127420184G>A | CA360730224 | MEGF10 | c.1567G>A (p.Glu523Lys) c.1732G>A (p.Glu578Lys) c.427G>A (p.Glu143Lys) | COSMIC |
5 | g.127420184G>C | CA360730225 | MEGF10 | c.1567G>C (p.Glu523Gln) c.1732G>C (p.Glu578Gln) c.427G>C (p.Glu143Gln) | dbSNP |
5 | g.127420184G= | CA1580843230 | MEGF10 | c.1567G= (p.Glu523=) c.1732G= (p.Glu578=) c.427G= (p.Glu143=) | |
5 | g.127420184G>T | CA360730226 | MEGF10 | c.1567G>T (p.Glu523Ter) c.1732G>T (p.Glu578Ter) c.427G>T (p.Glu143Ter) | |
5 | g.127420185A>C | CA360730229 | MEGF10 | c.1568A>C (p.Glu523Ala) c.1733A>C (p.Glu578Ala) c.428A>C (p.Glu143Ala) | |
5 | g.127420185A>G | CA360730230 | MEGF10 | c.1568A>G (p.Glu523Gly) c.1733A>G (p.Glu578Gly) c.428A>G (p.Glu143Gly) | |
5 | g.127420185A>T | CA360730231 | MEGF10 | c.1568A>T (p.Glu523Val) c.1733A>T (p.Glu578Val) c.428A>T (p.Glu143Val) | |
5 | g.127420186G>A | CA446285986 | MEGF10 | c.1569G>A (p.Glu523=) c.1734G>A (p.Glu578=) c.429G>A (p.Glu143=) | |
5 | g.127420186G>C | CA360730235 | MEGF10 | c.1569G>C (p.Glu523Asp) c.1734G>C (p.Glu578Asp) c.429G>C (p.Glu143Asp) | |
5 | g.127420186G>T | CA360730233 | MEGF10 | c.1569G>T (p.Glu523Asp) c.1734G>T (p.Glu578Asp) c.429G>T (p.Glu143Asp) | |
5 | g.127420187A= | CA1580843232 | MEGF10 | c.1570A= (p.Lys524=) c.1735A= (p.Lys579=) c.430A= (p.Lys144=) | |
5 | g.127420187A>C | CA360730237 | MEGF10 | c.1570A>C (p.Lys524Gln) c.1735A>C (p.Lys579Gln) c.430A>C (p.Lys144Gln) | |
5 | g.127420187A>G | CA360730239 | MEGF10 | c.1570A>G (p.Lys524Glu) c.1735A>G (p.Lys579Glu) c.430A>G (p.Lys144Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420187A>T | CA360730241 | MEGF10 | c.1570A>T (p.Lys524Ter) c.1735A>T (p.Lys579Ter) c.430A>T (p.Lys144Ter) | |
5 | g.127420188A>C | CA360730243 | MEGF10 | c.1571A>C (p.Lys524Thr) c.1736A>C (p.Lys579Thr) c.431A>C (p.Lys144Thr) | |
5 | g.127420188A>G | CA360730245 | MEGF10 | c.1571A>G (p.Lys524Arg) c.1736A>G (p.Lys579Arg) c.431A>G (p.Lys144Arg) | gnomAD v4 |
5 | g.127420188A>T | CA360730247 | MEGF10 | c.1571A>T (p.Lys524Ile) c.1736A>T (p.Lys579Ile) c.431A>T (p.Lys144Ile) | |
5 | g.127420189A= | CA1580843234 | MEGF10 | c.1572A= (p.Lys524=) c.1737A= (p.Lys579=) c.432A= (p.Lys144=) | |
5 | g.127420189A>C | CA360730251 | MEGF10 | c.1572A>C (p.Lys524Asn) c.1737A>C (p.Lys579Asn) c.432A>C (p.Lys144Asn) | |
5 | g.127420189A>G | CA3391616 | MEGF10 | c.1572A>G (p.Lys524=) c.1737A>G (p.Lys579=) c.432A>G (p.Lys144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420189A>T | CA360730250 | MEGF10 | c.1572A>T (p.Lys524Asn) c.1737A>T (p.Lys579Asn) c.432A>T (p.Lys144Asn) | |
5 | g.127420190T>A | CA360730253 | MEGF10 | c.1573T>A (p.Cys525Ser) c.1738T>A (p.Cys580Ser) c.433T>A (p.Cys145Ser) | |
5 | g.127420190T>C | CA360730255 | MEGF10 | c.1573T>C (p.Cys525Arg) c.1738T>C (p.Cys580Arg) c.433T>C (p.Cys145Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420190T>G | CA360730257 | MEGF10 | c.1573T>G (p.Cys525Gly) c.1738T>G (p.Cys580Gly) c.433T>G (p.Cys145Gly) | |
5 | g.127420190T= | CA1580843239 | MEGF10 | c.1573T= (p.Cys525=) c.1738T= (p.Cys580=) c.433T= (p.Cys145=) | |
5 | g.127420191G>A | CA360730259 | MEGF10 | c.1574G>A (p.Cys525Tyr) c.1739G>A (p.Cys580Tyr) c.434G>A (p.Cys145Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420191G>C | CA360730261 | MEGF10 | c.1574G>C (p.Cys525Ser) c.1739G>C (p.Cys580Ser) c.434G>C (p.Cys145Ser) | |
5 | g.127420191G= | CA1580843241 | MEGF10 | c.1574G= (p.Cys525=) c.1739G= (p.Cys580=) c.434G= (p.Cys145=) | |
5 | g.127420191G>T | CA360730263 | MEGF10 | c.1574G>T (p.Cys525Phe) c.1739G>T (p.Cys580Phe) c.434G>T (p.Cys145Phe) | |
5 | g.127420192C>A | CA360730265 | MEGF10 | c.1575C>A (p.Cys525Ter) c.1740C>A (p.Cys580Ter) c.435C>A (p.Cys145Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420192C= | CA1580843244 | MEGF10 | c.1575C= (p.Cys525=) c.1740C= (p.Cys580=) c.435C= (p.Cys145=) | |
5 | g.127420192C>G | CA360730268 | MEGF10 | c.1575C>G (p.Cys525Trp) c.1740C>G (p.Cys580Trp) c.435C>G (p.Cys145Trp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420192C>T | CA3391617 | MEGF10 | c.1575C>T (p.Cys525=) c.1740C>T (p.Cys580=) c.435C>T (p.Cys145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420193G>A | CA360730271 | MEGF10 | c.1576G>A (p.Glu526Lys) c.1741G>A (p.Glu581Lys) c.436G>A (p.Glu146Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.127420193G>C | CA3391618 | MEGF10 | c.1576G>C (p.Glu526Gln) c.1741G>C (p.Glu581Gln) c.436G>C (p.Glu146Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420193G= | CA1580843253 | MEGF10 | c.1576G= (p.Glu526=) c.1741G= (p.Glu581=) c.436G= (p.Glu146=) | |
5 | g.127420193G>T | CA126949427 | MEGF10 | c.1576G>T (p.Glu526Ter) c.1741G>T (p.Glu581Ter) c.436G>T (p.Glu146Ter) | dbSNP |
5 | g.127420194A>C | CA360730275 | MEGF10 | c.1577A>C (p.Glu526Ala) c.1742A>C (p.Glu581Ala) c.437A>C (p.Glu146Ala) | |
5 | g.127420194A>G | CA360730276 | MEGF10 | c.1577A>G (p.Glu526Gly) c.1742A>G (p.Glu581Gly) c.437A>G (p.Glu146Gly) | |
5 | g.127420194A>T | CA360730278 | MEGF10 | c.1577A>T (p.Glu526Val) c.1742A>T (p.Glu581Val) c.437A>T (p.Glu146Val) | |
5 | g.127420195A>C | CA360730281 | MEGF10 | c.1578A>C (p.Glu526Asp) c.1743A>C (p.Glu581Asp) c.438A>C (p.Glu146Asp) | |
5 | g.127420195A>G | CA446286006 | MEGF10 | c.1578A>G (p.Glu526=) c.1743A>G (p.Glu581=) c.438A>G (p.Glu146=) | |
5 | g.127420195A>T | CA360730282 | MEGF10 | c.1578A>T (p.Glu526Asp) c.1743A>T (p.Glu581Asp) c.438A>T (p.Glu146Asp) | |
5 | g.127420196C>A | CA360730285 | MEGF10 | c.1579C>A (p.Leu527Ile) c.1744C>A (p.Leu582Ile) c.439C>A (p.Leu147Ile) | dbSNP gnomAD v2 COSMIC |
5 | g.127420196C= | CA1580843257 | MEGF10 | c.1579C= (p.Leu527=) c.1744C= (p.Leu582=) c.439C= (p.Leu147=) | |
5 | g.127420196C>G | CA360730286 | MEGF10 | c.1579C>G (p.Leu527Val) c.1744C>G (p.Leu582Val) c.439C>G (p.Leu147Val) | |
5 | g.127420196C>T | CA360730289 | MEGF10 | c.1579C>T (p.Leu527Phe) c.1744C>T (p.Leu582Phe) c.439C>T (p.Leu147Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420196dup | CA2842407032 | MEGF10 | c.1579dup (p.Leu527ProfsTer14) c.1744dup (p.Leu582ProfsTer14) c.439dup (p.Leu147ProfsTer14) | |
5 | g.127420197T>A | CA360730294 | MEGF10 | c.1580T>A (p.Leu527His) c.1745T>A (p.Leu582His) c.440T>A (p.Leu147His) | |
5 | g.127420197T>C | CA360730293 | MEGF10 | c.1580T>C (p.Leu527Pro) c.1745T>C (p.Leu582Pro) c.440T>C (p.Leu147Pro) | |
5 | g.127420197T>G | CA360730291 | MEGF10 | c.1580T>G (p.Leu527Arg) c.1745T>G (p.Leu582Arg) c.440T>G (p.Leu147Arg) | |
5 | g.127420198T>A | CA446286012 | MEGF10 | c.1581T>A (p.Leu527=) c.1746T>A (p.Leu582=) c.441T>A (p.Leu147=) | |
5 | g.127420198T>C | CA446286014 | MEGF10 | c.1581T>C (p.Leu527=) c.1746T>C (p.Leu582=) c.441T>C (p.Leu147=) | |
5 | g.127420198T>G | CA446286016 | MEGF10 | c.1581T>G (p.Leu527=) c.1746T>G (p.Leu582=) c.441T>G (p.Leu147=) | |
5 | g.127420199C>A | CA360730296 | MEGF10 | c.1582C>A (p.Pro528Thr) c.1747C>A (p.Pro583Thr) c.442C>A (p.Pro148Thr) | |
5 | g.127420199C>G | CA360730300 | MEGF10 | c.1582C>G (p.Pro528Ala) c.1747C>G (p.Pro583Ala) c.442C>G (p.Pro148Ala) | |
5 | g.127420199C>T | CA360730298 | MEGF10 | c.1582C>T (p.Pro528Ser) c.1747C>T (p.Pro583Ser) c.442C>T (p.Pro148Ser) | gnomAD v4 COSMIC |
5 | g.127420200C>A | CA360730302 | MEGF10 | c.1583C>A (p.Pro528His) c.1748C>A (p.Pro583His) c.443C>A (p.Pro148His) | |
5 | g.127420200C= | CA1580843261 | MEGF10 | c.1583C= (p.Pro528=) c.1748C= (p.Pro583=) c.443C= (p.Pro148=) | |
5 | g.127420200C>G | CA360730305 | MEGF10 | c.1583C>G (p.Pro528Arg) c.1748C>G (p.Pro583Arg) c.443C>G (p.Pro148Arg) | |
5 | g.127420200C>T | CA360730307 | MEGF10 | c.1583C>T (p.Pro528Leu) c.1748C>T (p.Pro583Leu) c.443C>T (p.Pro148Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420200_127420201delinsTT | CA645565104 | MEGF10 | c.1583_1584delinsTT (p.Pro528Leu) c.1748_1749delinsTT (p.Pro583Leu) c.443_444delinsTT (p.Pro148Leu) | COSMIC |
5 | g.127420201C>A | CA446286021 | MEGF10 | c.1584C>A (p.Pro528=) c.1749C>A (p.Pro583=) c.444C>A (p.Pro148=) | |
5 | g.127420201C>G | CA446286023 | MEGF10 | c.1584C>G (p.Pro528=) c.1749C>G (p.Pro583=) c.444C>G (p.Pro148=) | |
5 | g.127420201C>T | CA446286024 | MEGF10 | c.1584C>T (p.Pro528=) c.1749C>T (p.Pro583=) c.444C>T (p.Pro148=) | |
5 | g.127420202T>A | CA360730309 | MEGF10 | c.1585T>A (p.Cys529Ser) c.1750T>A (p.Cys584Ser) c.445T>A (p.Cys149Ser) | |
5 | g.127420202T>C | CA360730311 | MEGF10 | c.1585T>C (p.Cys529Arg) c.1750T>C (p.Cys584Arg) c.445T>C (p.Cys149Arg) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420202T>G | CA3391619 | MEGF10 | c.1585T>G (p.Cys529Gly) c.1750T>G (p.Cys584Gly) c.445T>G (p.Cys149Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420202T= | CA1580843264 | MEGF10 | c.1585T= (p.Cys529=) c.1750T= (p.Cys584=) c.445T= (p.Cys149=) | |
5 | g.127420203G>A | CA360730314 | MEGF10 | c.1586G>A (p.Cys529Tyr) c.1751G>A (p.Cys584Tyr) c.446G>A (p.Cys149Tyr) | |
5 | g.127420203G>C | CA360730316 | MEGF10 | c.1586G>C (p.Cys529Ser) c.1751G>C (p.Cys584Ser) c.446G>C (p.Cys149Ser) | |
5 | g.127420203G>T | CA360730318 | MEGF10 | c.1586G>T (p.Cys529Phe) c.1751G>T (p.Cys584Phe) c.446G>T (p.Cys149Phe) | |
5 | g.127420204C>A | CA360730320 | MEGF10 | c.1587C>A (p.Cys529Ter) c.1752C>A (p.Cys584Ter) c.447C>A (p.Cys149Ter) | |
5 | g.127420204C= | CA1580843267 | MEGF10 | c.1587C= (p.Cys529=) c.1752C= (p.Cys584=) c.447C= (p.Cys149=) | |
5 | g.127420204C>G | CA360730321 | MEGF10 | c.1587C>G (p.Cys529Trp) c.1752C>G (p.Cys584Trp) c.447C>G (p.Cys149Trp) | |
5 | g.127420204C>T | CA3391620 | MEGF10 | c.1587C>T (p.Cys529=) c.1752C>T (p.Cys584=) c.447C>T (p.Cys149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.127420205C>A | CA360730328 | MEGF10 | c.1588C>A (p.Gln530Lys) c.1753C>A (p.Gln585Lys) c.448C>A (p.Gln150Lys) | gnomAD v4 |
5 | g.127420205C>G | CA360730326 | MEGF10 | c.1588C>G (p.Gln530Glu) c.1753C>G (p.Gln585Glu) c.448C>G (p.Gln150Glu) | |
5 | g.127420205C>T | CA360730324 | MEGF10 | c.1588C>T (p.Gln530Ter) c.1753C>T (p.Gln585Ter) c.448C>T (p.Gln150Ter) | COSMIC |
5 | g.127420206A>C | CA360730330 | MEGF10 | c.1589A>C (p.Gln530Pro) c.1754A>C (p.Gln585Pro) c.449A>C (p.Gln150Pro) | |
5 | g.127420206A>G | CA360730332 | MEGF10 | c.1589A>G (p.Gln530Arg) c.1754A>G (p.Gln585Arg) c.449A>G (p.Gln150Arg) | |
5 | g.127420206A>T | CA360730334 | MEGF10 | c.1589A>T (p.Gln530Leu) c.1754A>T (p.Gln585Leu) c.449A>T (p.Gln150Leu) | |
5 | g.127420207G>A | CA446286037 | MEGF10 | c.1590G>A (p.Gln530=) c.1755G>A (p.Gln585=) c.450G>A (p.Gln150=) | |
5 | g.127420207G>C | CA360730336 | MEGF10 | c.1590G>C (p.Gln530His) c.1755G>C (p.Gln585His) c.450G>C (p.Gln150His) | gnomAD v4 |
5 | g.127420207G>T | CA360730338 | MEGF10 | c.1590G>T (p.Gln530His) c.1755G>T (p.Gln585His) c.450G>T (p.Gln150His) | gnomAD v4 |
5 | g.127420208G>A | CA360730339 | MEGF10 | c.1590+1G>A (n.1590+1G>A) c.1755+1G>A (n.1755+1G>A) c.450+1G>A (n.450+1G>A) | |
5 | g.127420208G>C | CA360730341 | MEGF10 | c.1590+1G>C (n.1590+1G>C) c.1755+1G>C (n.1755+1G>C) c.450+1G>C (n.450+1G>C) | |
5 | g.127420208G= | CA1580843271 | MEGF10 | c.1590+1G= (n.1590+1G=) c.1755+1G= (n.1755+1G=) c.450+1G= (n.450+1G=) | |
5 | g.127420208G>T | CA360730343 | MEGF10 | c.1590+1G>T (n.1590+1G>T) c.1755+1G>T (n.1755+1G>T) c.450+1G>T (n.450+1G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420209T>A | CA360730345 | MEGF10 | c.1590+2T>A (n.1590+2T>A) c.1755+2T>A (n.1755+2T>A) c.450+2T>A (n.450+2T>A) | |
5 | g.127420209T>C | CA360730347 | MEGF10 | c.1590+2T>C (n.1590+2T>C) c.1755+2T>C (n.1755+2T>C) c.450+2T>C (n.450+2T>C) | |
5 | g.127420209T>G | CA360730349 | MEGF10 | c.1590+2T>G (n.1590+2T>G) c.1755+2T>G (n.1755+2T>G) c.450+2T>G (n.450+2T>G) | |
5 | g.127420210A>G | CA2578393993 | MEGF10 | c.1590+3A>G (n.1590+3A>G) c.1755+3A>G (n.1755+3A>G) c.450+3A>G (n.450+3A>G) | |
5 | g.127420211T>G | CA2675088416 | MEGF10 | c.1590+4T>G (n.1590+4T>G) c.1755+4T>G (n.1755+4T>G) c.450+4T>G (n.450+4T>G) | gnomAD v4 |
5 | g.127420213C>T | CA2675088417 | MEGF10 | c.1590+6C>T (n.1590+6C>T) c.1755+6C>T (n.1755+6C>T) c.450+6C>T (n.450+6C>T) | gnomAD v4 |
5 | g.127420215C>T | CA2675088418 | MEGF10 | c.1590+8C>T (n.1590+8C>T) c.1755+8C>T (n.1755+8C>T) c.450+8C>T (n.450+8C>T) | gnomAD v4 |
5 | g.127420216A>G | CA2578393994 | MEGF10 | c.1590+9A>G (n.1590+9A>G) c.1755+9A>G (n.1755+9A>G) c.450+9A>G (n.450+9A>G) | |
5 | g.127420218dup | CA2842407033 | MEGF10 | c.1590+11dup (n.1590+11dup) c.1755+11dup (n.1755+11dup) c.450+11dup (n.450+11dup) |