Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127420074G>A | CA360729875 | MEGF10 | c.1457G>A (p.Cys486Tyr) c.1622G>A (p.Cys541Tyr) c.317G>A (p.Cys106Tyr) | dbSNP |
5 | g.127420074G>C | CA360729876 | MEGF10 | c.1457G>C (p.Cys486Ser) c.1622G>C (p.Cys541Ser) c.317G>C (p.Cys106Ser) | |
5 | g.127420074G= | CA1580843015 | MEGF10 | c.1457G= (p.Cys486=) c.1622G= (p.Cys541=) c.317G= (p.Cys106=) | |
5 | g.127420074G>T | CA360729877 | MEGF10 | c.1457G>T (p.Cys486Phe) c.1622G>T (p.Cys541Phe) c.317G>T (p.Cys106Phe) | |
5 | g.127420075T>A | CA360729878 | MEGF10 | c.1458T>A (p.Cys486Ter) c.1623T>A (p.Cys541Ter) c.318T>A (p.Cys106Ter) | |
5 | g.127420075T>C | CA446285617 | MEGF10 | c.1458T>C (p.Cys486=) c.1623T>C (p.Cys541=) c.318T>C (p.Cys106=) | |
5 | g.127420075T>G | CA360729879 | MEGF10 | c.1458T>G (p.Cys486Trp) c.1623T>G (p.Cys541Trp) c.318T>G (p.Cys106Trp) | |
5 | g.127420076C>A | CA360729880 | MEGF10 | c.1459C>A (p.Pro487Thr) c.1624C>A (p.Pro542Thr) c.319C>A (p.Pro107Thr) | gnomAD v4 |
5 | g.127420076C>G | CA360729881 | MEGF10 | c.1459C>G (p.Pro487Ala) c.1624C>G (p.Pro542Ala) c.319C>G (p.Pro107Ala) | |
5 | g.127420076C>T | CA360729882 | MEGF10 | c.1459C>T (p.Pro487Ser) c.1624C>T (p.Pro542Ser) c.319C>T (p.Pro107Ser) | gnomAD v4 |
5 | g.127420077C>A | CA360729883 | MEGF10 | c.1460C>A (p.Pro487His) c.1625C>A (p.Pro542His) c.320C>A (p.Pro107His) | |
5 | g.127420077C= | CA1580843017 | MEGF10 | c.1460C= (p.Pro487=) c.1625C= (p.Pro542=) c.320C= (p.Pro107=) | |
5 | g.127420077C>G | CA360729884 | MEGF10 | c.1460C>G (p.Pro487Arg) c.1625C>G (p.Pro542Arg) c.320C>G (p.Pro107Arg) | ClinVar dbSNP |
5 | g.127420077C>T | CA3391587 | MEGF10 | c.1460C>T (p.Pro487Leu) c.1625C>T (p.Pro542Leu) c.320C>T (p.Pro107Leu) | dbSNP ExAC gnomAD v2 |
5 | g.127420078C>A | CA446285622 | MEGF10 | c.1461C>A (p.Pro487=) c.1626C>A (p.Pro542=) c.321C>A (p.Pro107=) | |
5 | g.127420078C>G | CA446285624 | MEGF10 | c.1461C>G (p.Pro487=) c.1626C>G (p.Pro542=) c.321C>G (p.Pro107=) | |
5 | g.127420078C>T | CA446285626 | MEGF10 | c.1461C>T (p.Pro487=) c.1626C>T (p.Pro542=) c.321C>T (p.Pro107=) | |
5 | g.127420079A>C | CA360729885 | MEGF10 | c.1462A>C (p.Ser488Arg) c.1627A>C (p.Ser543Arg) c.322A>C (p.Ser108Arg) | |
5 | g.127420079A>G | CA360729886 | MEGF10 | c.1462A>G (p.Ser488Gly) c.1627A>G (p.Ser543Gly) c.322A>G (p.Ser108Gly) | |
5 | g.127420079A>T | CA360729887 | MEGF10 | c.1462A>T (p.Ser488Cys) c.1627A>T (p.Ser543Cys) c.322A>T (p.Ser108Cys) | |
5 | g.127420080G>A | CA360729888 | MEGF10 | c.1463G>A (p.Ser488Asn) c.1628G>A (p.Ser543Asn) c.323G>A (p.Ser108Asn) | |
5 | g.127420080G>C | CA360729889 | MEGF10 | c.1463G>C (p.Ser488Thr) c.1628G>C (p.Ser543Thr) c.323G>C (p.Ser108Thr) | |
5 | g.127420080G>T | CA360729890 | MEGF10 | c.1463G>T (p.Ser488Ile) c.1628G>T (p.Ser543Ile) c.323G>T (p.Ser108Ile) | |
5 | g.127420081T>A | CA360729891 | MEGF10 | c.1464T>A (p.Ser488Arg) c.1629T>A (p.Ser543Arg) c.324T>A (p.Ser108Arg) | |
5 | g.127420081T>C | CA446285636 | MEGF10 | c.1464T>C (p.Ser488=) c.1629T>C (p.Ser543=) c.324T>C (p.Ser108=) | |
5 | g.127420081T>G | CA360729892 | MEGF10 | c.1464T>G (p.Ser488Arg) c.1629T>G (p.Ser543Arg) c.324T>G (p.Ser108Arg) | |
5 | g.127420082G>A | CA360729893 | MEGF10 | c.1465G>A (p.Gly489Ser) c.1630G>A (p.Gly544Ser) c.325G>A (p.Gly109Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420082G>C | CA360729894 | MEGF10 | c.1465G>C (p.Gly489Arg) c.1630G>C (p.Gly544Arg) c.325G>C (p.Gly109Arg) | |
5 | g.127420082G= | CA1580843019 | MEGF10 | c.1465G= (p.Gly489=) c.1630G= (p.Gly544=) c.325G= (p.Gly109=) | |
5 | g.127420082G>T | CA360729895 | MEGF10 | c.1465G>T (p.Gly489Cys) c.1630G>T (p.Gly544Cys) c.325G>T (p.Gly109Cys) | |
5 | g.127420083G>A | CA3391588 | MEGF10 | c.1466G>A (p.Gly489Asp) c.1631G>A (p.Gly544Asp) c.326G>A (p.Gly109Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420083G>C | CA360729896 | MEGF10 | c.1466G>C (p.Gly489Ala) c.1631G>C (p.Gly544Ala) c.326G>C (p.Gly109Ala) | |
5 | g.127420083G= | CA1580843021 | MEGF10 | c.1466G= (p.Gly489=) c.1631G= (p.Gly544=) c.326G= (p.Gly109=) | |
5 | g.127420083G>T | CA360729897 | MEGF10 | c.1466G>T (p.Gly489Val) c.1631G>T (p.Gly544Val) c.326G>T (p.Gly109Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.127420084C>A | CA446285643 | MEGF10 | c.1467C>A (p.Gly489=) c.1632C>A (p.Gly544=) c.327C>A (p.Gly109=) | |
5 | g.127420084C= | CA1580843024 | MEGF10 | c.1467C= (p.Gly489=) c.1632C= (p.Gly544=) c.327C= (p.Gly109=) | |
5 | g.127420084C>G | CA446285646 | MEGF10 | c.1467C>G (p.Gly489=) c.1632C>G (p.Gly544=) c.327C>G (p.Gly109=) | |
5 | g.127420084C>T | CA446285647 | MEGF10 | c.1467C>T (p.Gly489=) c.1632C>T (p.Gly544=) c.327C>T (p.Gly109=) | ClinVar dbSNP |
5 | g.127420085A= | CA1580843026 | MEGF10 | c.1468A= (p.Thr490=) c.1633A= (p.Thr545=) c.328A= (p.Thr110=) | |
5 | g.127420085A>C | CA360729898 | MEGF10 | c.1468A>C (p.Thr490Pro) c.1633A>C (p.Thr545Pro) c.328A>C (p.Thr110Pro) | |
5 | g.127420085A>G | CA360729899 | MEGF10 | c.1468A>G (p.Thr490Ala) c.1633A>G (p.Thr545Ala) c.328A>G (p.Thr110Ala) | dbSNP gnomAD v4 |
5 | g.127420085A>T | CA360729900 | MEGF10 | c.1468A>T (p.Thr490Ser) c.1633A>T (p.Thr545Ser) c.328A>T (p.Thr110Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.127420086C>A | CA360729901 | MEGF10 | c.1469C>A (p.Thr490Lys) c.1634C>A (p.Thr545Lys) c.329C>A (p.Thr110Lys) | |
5 | g.127420086C= | CA1580843027 | MEGF10 | c.1469C= (p.Thr490=) c.1634C= (p.Thr545=) c.329C= (p.Thr110=) | |
5 | g.127420086C>G | CA360729902 | MEGF10 | c.1469C>G (p.Thr490Arg) c.1634C>G (p.Thr545Arg) c.329C>G (p.Thr110Arg) | |
5 | g.127420086C>T | CA126949169 | MEGF10 | c.1469C>T (p.Thr490Ile) c.1634C>T (p.Thr545Ile) c.329C>T (p.Thr110Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.127420087A= | CA1580843029 | MEGF10 | c.1470A= (p.Thr490=) c.1635A= (p.Thr545=) c.330A= (p.Thr110=) | |
5 | g.127420087A>C | CA446285652 | MEGF10 | c.1470A>C (p.Thr490=) c.1635A>C (p.Thr545=) c.330A>C (p.Thr110=) | |
5 | g.127420087A>G | CA446285654 | MEGF10 | c.1470A>G (p.Thr490=) c.1635A>G (p.Thr545=) c.330A>G (p.Thr110=) | gnomAD v4 COSMIC |
5 | g.127420087A>T | CA446285655 | MEGF10 | c.1470A>T (p.Thr490=) c.1635A>T (p.Thr545=) c.330A>T (p.Thr110=) | dbSNP |