UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.127420088T>A | CA360729905 | MEGF10 | c.1471T>A (p.Trp491Arg) c.1636T>A (p.Trp546Arg) c.331T>A (p.Trp111Arg) | |
| 5 | g.127420088T>C | CA360729904 | MEGF10 | c.1471T>C (p.Trp491Arg) c.1636T>C (p.Trp546Arg) c.331T>C (p.Trp111Arg) | |
| 5 | g.127420088T>G | CA360729903 | MEGF10 | c.1471T>G (p.Trp491Gly) c.1636T>G (p.Trp546Gly) c.331T>G (p.Trp111Gly) | |
| 5 | g.127420089G>A | CA360729906 | MEGF10 | c.1472G>A (p.Trp491Ter) c.1637G>A (p.Trp546Ter) c.332G>A (p.Trp111Ter) | dbSNP |
| 5 | g.127420089G>C | CA360729907 | MEGF10 | c.1472G>C (p.Trp491Ser) c.1637G>C (p.Trp546Ser) c.332G>C (p.Trp111Ser) | |
| 5 | g.127420089G= | CA1580843030 | MEGF10 | c.1472G= (p.Trp491=) c.1637G= (p.Trp546=) c.332G= (p.Trp111=) | |
| 5 | g.127420089G>T | CA360729908 | MEGF10 | c.1472G>T (p.Trp491Leu) c.1637G>T (p.Trp546Leu) c.332G>T (p.Trp111Leu) | |
| 5 | g.127420090G>A | CA360729909 | MEGF10 | c.1473G>A (p.Trp491Ter) c.1638G>A (p.Trp546Ter) c.333G>A (p.Trp111Ter) | |
| 5 | g.127420090G>C | CA360729910 | MEGF10 | c.1473G>C (p.Trp491Cys) c.1638G>C (p.Trp546Cys) c.333G>C (p.Trp111Cys) | |
| 5 | g.127420090G>T | CA360729911 | MEGF10 | c.1473G>T (p.Trp491Cys) c.1638G>T (p.Trp546Cys) c.333G>T (p.Trp111Cys) | |
| 5 | g.127420091G>A | CA360729912 | MEGF10 | c.1474G>A (p.Gly492Ser) c.1639G>A (p.Gly547Ser) c.334G>A (p.Gly112Ser) | |
| 5 | g.127420091G>C | CA360729913 | MEGF10 | c.1474G>C (p.Gly492Arg) c.1639G>C (p.Gly547Arg) c.334G>C (p.Gly112Arg) | |
| 5 | g.127420091G>T | CA360729914 | MEGF10 | c.1474G>T (p.Gly492Cys) c.1639G>T (p.Gly547Cys) c.334G>T (p.Gly112Cys) | |
| 5 | g.127420092G>A | CA3391589 | MEGF10 | c.1475G>A (p.Gly492Asp) c.1640G>A (p.Gly547Asp) c.335G>A (p.Gly112Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127420092G>C | CA360729915 | MEGF10 | c.1475G>C (p.Gly492Ala) c.1640G>C (p.Gly547Ala) c.335G>C (p.Gly112Ala) | |
| 5 | g.127420092G= | CA1580843032 | MEGF10 | c.1475G= (p.Gly492=) c.1640G= (p.Gly547=) c.335G= (p.Gly112=) | |
| 5 | g.127420092G>T | CA360729916 | MEGF10 | c.1475G>T (p.Gly492Val) c.1640G>T (p.Gly547Val) c.335G>T (p.Gly112Val) | |
| 5 | g.127420093C>A | CA446285673 | MEGF10 | c.1476C>A (p.Gly492=) c.1641C>A (p.Gly547=) c.336C>A (p.Gly112=) | |
| 5 | g.127420093C>G | CA446285671 | MEGF10 | c.1476C>G (p.Gly492=) c.1641C>G (p.Gly547=) c.336C>G (p.Gly112=) | |
| 5 | g.127420093C>T | CA446285669 | MEGF10 | c.1476C>T (p.Gly492=) c.1641C>T (p.Gly547=) c.336C>T (p.Gly112=) | ClinVar gnomAD v4 |
| 5 | g.127420094T>A | CA360729919 | MEGF10 | c.1477T>A (p.Phe493Ile) c.1642T>A (p.Phe548Ile) c.337T>A (p.Phe113Ile) | |
| 5 | g.127420094T>C | CA360729918 | MEGF10 | c.1477T>C (p.Phe493Leu) c.1642T>C (p.Phe548Leu) c.337T>C (p.Phe113Leu) | |
| 5 | g.127420094T>G | CA360729917 | MEGF10 | c.1477T>G (p.Phe493Val) c.1642T>G (p.Phe548Val) c.337T>G (p.Phe113Val) | |
| 5 | g.127420095T>A | CA360729920 | MEGF10 | c.1478T>A (p.Phe493Tyr) c.1643T>A (p.Phe548Tyr) c.338T>A (p.Phe113Tyr) | |
| 5 | g.127420095T>C | CA360729922 | MEGF10 | c.1478T>C (p.Phe493Ser) c.1643T>C (p.Phe548Ser) c.338T>C (p.Phe113Ser) | gnomAD v4 |
| 5 | g.127420095T>G | CA360729921 | MEGF10 | c.1478T>G (p.Phe493Cys) c.1643T>G (p.Phe548Cys) c.338T>G (p.Phe113Cys) | |
| 5 | g.127420096T>A | CA360729923 | MEGF10 | c.1479T>A (p.Phe493Leu) c.1644T>A (p.Phe548Leu) c.339T>A (p.Phe113Leu) | |
| 5 | g.127420096T>C | CA446285681 | MEGF10 | c.1479T>C (p.Phe493=) c.1644T>C (p.Phe548=) c.339T>C (p.Phe113=) | |
| 5 | g.127420096T>G | CA360729924 | MEGF10 | c.1479T>G (p.Phe493Leu) c.1644T>G (p.Phe548Leu) c.339T>G (p.Phe113Leu) | |
| 5 | g.127420097G>A | CA360729925 | MEGF10 | c.1480G>A (p.Gly494Ser) c.1645G>A (p.Gly549Ser) c.340G>A (p.Gly114Ser) | |
| 5 | g.127420097G>C | CA360729926 | MEGF10 | c.1480G>C (p.Gly494Arg) c.1645G>C (p.Gly549Arg) c.340G>C (p.Gly114Arg) | |
| 5 | g.127420097G>T | CA360729927 | MEGF10 | c.1480G>T (p.Gly494Cys) c.1645G>T (p.Gly549Cys) c.340G>T (p.Gly114Cys) | |
| 5 | g.127420098G>A | CA3391590 | MEGF10 | c.1481G>A (p.Gly494Asp) c.1646G>A (p.Gly549Asp) c.341G>A (p.Gly114Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.127420098G>C | CA360729928 | MEGF10 | c.1481G>C (p.Gly494Ala) c.1646G>C (p.Gly549Ala) c.341G>C (p.Gly114Ala) | |
| 5 | g.127420098G= | CA1580843033 | MEGF10 | c.1481G= (p.Gly494=) c.1646G= (p.Gly549=) c.341G= (p.Gly114=) | |
| 5 | g.127420098G>T | CA360729929 | MEGF10 | c.1481G>T (p.Gly494Val) c.1646G>T (p.Gly549Val) c.341G>T (p.Gly114Val) | |
| 5 | g.127420099C>A | CA446285688 | MEGF10 | c.1482C>A (p.Gly494=) c.1647C>A (p.Gly549=) c.342C>A (p.Gly114=) | gnomAD v4 |
| 5 | g.127420099C= | CA1580843035 | MEGF10 | c.1482C= (p.Gly494=) c.1647C= (p.Gly549=) c.342C= (p.Gly114=) | |
| 5 | g.127420099C>G | CA446285691 | MEGF10 | c.1482C>G (p.Gly494=) c.1647C>G (p.Gly549=) c.342C>G (p.Gly114=) | |
| 5 | g.127420099C>T | CA446285689 | MEGF10 | c.1482C>T (p.Gly494=) c.1647C>T (p.Gly549=) c.342C>T (p.Gly114=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127420100T>A | CA360729930 | MEGF10 | c.1483T>A (p.Cys495Ser) c.1648T>A (p.Cys550Ser) c.343T>A (p.Cys115Ser) | |
| 5 | g.127420100T>C | CA360729931 | MEGF10 | c.1483T>C (p.Cys495Arg) c.1648T>C (p.Cys550Arg) c.343T>C (p.Cys115Arg) | |
| 5 | g.127420100T>G | CA360729932 | MEGF10 | c.1483T>G (p.Cys495Gly) c.1648T>G (p.Cys550Gly) c.343T>G (p.Cys115Gly) | |
| 5 | g.127420101G>A | CA360729934 | MEGF10 | c.1484G>A (p.Cys495Tyr) c.1649G>A (p.Cys550Tyr) c.344G>A (p.Cys115Tyr) | |
| 5 | g.127420101G>C | CA3391591 | MEGF10 | c.1484G>C (p.Cys495Ser) c.1649G>C (p.Cys550Ser) c.344G>C (p.Cys115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.127420101G= | CA1580843037 | MEGF10 | c.1484G= (p.Cys495=) c.1649G= (p.Cys550=) c.344G= (p.Cys115=) | |
| 5 | g.127420101G>T | CA360729933 | MEGF10 | c.1484G>T (p.Cys495Phe) c.1649G>T (p.Cys550Phe) c.344G>T (p.Cys115Phe) | |
| 5 | g.127420102T>A | CA360729935 | MEGF10 | c.1485T>A (p.Cys495Ter) c.1650T>A (p.Cys550Ter) c.345T>A (p.Cys115Ter) | |
| 5 | g.127420102T>C | CA446285697 | MEGF10 | c.1485T>C (p.Cys495=) c.1650T>C (p.Cys550=) c.345T>C (p.Cys115=) | |
| 5 | g.127420102T>G | CA360729936 | MEGF10 | c.1485T>G (p.Cys495Trp) c.1650T>G (p.Cys550Trp) c.345T>G (p.Cys115Trp) | |
| 5 | g.127420103A>C | CA360729937 | MEGF10 | c.1486A>C (p.Asn496His) c.1651A>C (p.Asn551His) c.346A>C (p.Asn116His) | |
| 5 | g.127420103A>G | CA360729938 | MEGF10 | c.1486A>G (p.Asn496Asp) c.1651A>G (p.Asn551Asp) c.346A>G (p.Asn116Asp) | |
| 5 | g.127420103A>T | CA360729939 | MEGF10 | c.1486A>T (p.Asn496Tyr) c.1651A>T (p.Asn551Tyr) c.346A>T (p.Asn116Tyr) | |
| 5 | g.127420104A= | CA1580843040 | MEGF10 | c.1487A= (p.Asn496=) c.1652A= (p.Asn551=) c.347A= (p.Asn116=) | |
| 5 | g.127420104A>C | CA360729940 | MEGF10 | c.1487A>C (p.Asn496Thr) c.1652A>C (p.Asn551Thr) c.347A>C (p.Asn116Thr) | |
| 5 | g.127420104A>G | CA360729941 | MEGF10 | c.1487A>G (p.Asn496Ser) c.1652A>G (p.Asn551Ser) c.347A>G (p.Asn116Ser) | dbSNP gnomAD v4 |
| 5 | g.127420104A>T | CA360729942 | MEGF10 | c.1487A>T (p.Asn496Ile) c.1652A>T (p.Asn551Ile) c.347A>T (p.Asn116Ile) | |
| 5 | g.127420105C>A | CA360729943 | MEGF10 | c.1488C>A (p.Asn496Lys) c.1653C>A (p.Asn551Lys) c.348C>A (p.Asn116Lys) | dbSNP gnomAD v4 |
| 5 | g.127420105C= | CA1580843044 | MEGF10 | c.1488C= (p.Asn496=) c.1653C= (p.Asn551=) c.348C= (p.Asn116=) | |
| 5 | g.127420105C>G | CA360729944 | MEGF10 | c.1488C>G (p.Asn496Lys) c.1653C>G (p.Asn551Lys) c.348C>G (p.Asn116Lys) | |
| 5 | g.127420105C>T | CA446285704 | MEGF10 | c.1488C>T (p.Asn496=) c.1653C>T (p.Asn551=) c.348C>T (p.Asn116=) | dbSNP gnomAD v2 |
| 5 | g.127420106T>A | CA360729945 | MEGF10 | c.1489T>A (p.Leu497Ile) c.1654T>A (p.Leu552Ile) c.349T>A (p.Leu117Ile) | |
| 5 | g.127420106T>C | CA446285708 | MEGF10 | c.1489T>C (p.Leu497=) c.1654T>C (p.Leu552=) c.349T>C (p.Leu117=) | gnomAD v4 |
| 5 | g.127420106T>G | CA360729946 | MEGF10 | c.1489T>G (p.Leu497Val) c.1654T>G (p.Leu552Val) c.349T>G (p.Leu117Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127420106T= | CA1580843048 | MEGF10 | c.1489T= (p.Leu497=) c.1654T= (p.Leu552=) c.349T= (p.Leu117=) | |
| 5 | g.127420107T>A | CA360729949 | MEGF10 | c.1490T>A (p.Leu497Ter) c.1655T>A (p.Leu552Ter) c.350T>A (p.Leu117Ter) | |
| 5 | g.127420107T>C | CA360729948 | MEGF10 | c.1490T>C (p.Leu497Ser) c.1655T>C (p.Leu552Ser) c.350T>C (p.Leu117Ser) | |
| 5 | g.127420107T>G | CA360729947 | MEGF10 | c.1490T>G (p.Leu497Ter) c.1655T>G (p.Leu552Ter) c.350T>G (p.Leu117Ter) | |
| 5 | g.127420108A>C | CA360729950 | MEGF10 | c.1491A>C (p.Leu497Phe) c.1656A>C (p.Leu552Phe) c.351A>C (p.Leu117Phe) | |
| 5 | g.127420108A>G | CA446285714 | MEGF10 | c.1491A>G (p.Leu497=) c.1656A>G (p.Leu552=) c.351A>G (p.Leu117=) | ClinVar gnomAD v4 |
| 5 | g.127420108A>T | CA360729951 | MEGF10 | c.1491A>T (p.Leu497Phe) c.1656A>T (p.Leu552Phe) c.351A>T (p.Leu117Phe) | |
| 5 | g.127420109A>C | CA360729952 | MEGF10 | c.1492A>C (p.Thr498Pro) c.1657A>C (p.Thr553Pro) c.352A>C (p.Thr118Pro) | |
| 5 | g.127420109A>G | CA360729953 | MEGF10 | c.1492A>G (p.Thr498Ala) c.1657A>G (p.Thr553Ala) c.352A>G (p.Thr118Ala) | gnomAD v4 |
| 5 | g.127420109A>T | CA360729954 | MEGF10 | c.1492A>T (p.Thr498Ser) c.1657A>T (p.Thr553Ser) c.352A>T (p.Thr118Ser) | |
| 5 | g.127420110C>A | CA360729955 | MEGF10 | c.1493C>A (p.Thr498Lys) c.1658C>A (p.Thr553Lys) c.353C>A (p.Thr118Lys) | |
| 5 | g.127420110C= | CA1580843050 | MEGF10 | c.1493C= (p.Thr498=) c.1658C= (p.Thr553=) c.353C= (p.Thr118=) | |
| 5 | g.127420110C>G | CA360729956 | MEGF10 | c.1493C>G (p.Thr498Arg) c.1658C>G (p.Thr553Arg) c.353C>G (p.Thr118Arg) | |
| 5 | g.127420110C>T | CA360729957 | MEGF10 | c.1493C>T (p.Thr498Ile) c.1658C>T (p.Thr553Ile) c.353C>T (p.Thr118Ile) | dbSNP |
| 5 | g.127420111A= | CA1580843053 | MEGF10 | c.1494A= (p.Thr498=) c.1659A= (p.Thr553=) c.354A= (p.Thr118=) | |
| 5 | g.127420111A>C | CA446285724 | MEGF10 | c.1494A>C (p.Thr498=) c.1659A>C (p.Thr553=) c.354A>C (p.Thr118=) | |
| 5 | g.127420111A>G | CA446285726 | MEGF10 | c.1494A>G (p.Thr498=) c.1659A>G (p.Thr553=) c.354A>G (p.Thr118=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.127420111A>T | CA446285728 | MEGF10 | c.1494A>T (p.Thr498=) c.1659A>T (p.Thr553=) c.354A>T (p.Thr118=) | |
| 5 | g.127420112T>A | CA360729958 | MEGF10 | c.1495T>A (p.Cys499Ser) c.1660T>A (p.Cys554Ser) c.355T>A (p.Cys119Ser) | |
| 5 | g.127420112T>C | CA360729959 | MEGF10 | c.1495T>C (p.Cys499Arg) c.1660T>C (p.Cys554Arg) c.355T>C (p.Cys119Arg) | |
| 5 | g.127420112T>G | CA360729960 | MEGF10 | c.1495T>G (p.Cys499Gly) c.1660T>G (p.Cys554Gly) c.355T>G (p.Cys119Gly) | gnomAD v4 |
| 5 | g.127420113G>A | CA360729961 | MEGF10 | c.1496G>A (p.Cys499Tyr) c.1661G>A (p.Cys554Tyr) c.356G>A (p.Cys119Tyr) | |
| 5 | g.127420113G>C | CA360729962 | MEGF10 | c.1496G>C (p.Cys499Ser) c.1661G>C (p.Cys554Ser) c.356G>C (p.Cys119Ser) | |
| 5 | g.127420113G>T | CA360729963 | MEGF10 | c.1496G>T (p.Cys499Phe) c.1661G>T (p.Cys554Phe) c.356G>T (p.Cys119Phe) | |
| 5 | g.127420114C>A | CA360729964 | MEGF10 | c.1497C>A (p.Cys499Ter) c.1662C>A (p.Cys554Ter) c.357C>A (p.Cys119Ter) | |
| 5 | g.127420114C>G | CA360729965 | MEGF10 | c.1497C>G (p.Cys499Trp) c.1662C>G (p.Cys554Trp) c.357C>G (p.Cys119Trp) | |
| 5 | g.127420114C>T | CA446285737 | MEGF10 | c.1497C>T (p.Cys499=) c.1662C>T (p.Cys554=) c.357C>T (p.Cys119=) | gnomAD v4 |
| 5 | g.127420115C>A | CA360729966 | MEGF10 | c.1498C>A (p.Gln500Lys) c.1663C>A (p.Gln555Lys) c.358C>A (p.Gln120Lys) | |
| 5 | g.127420115C>G | CA360729967 | MEGF10 | c.1498C>G (p.Gln500Glu) c.1663C>G (p.Gln555Glu) c.358C>G (p.Gln120Glu) | |
| 5 | g.127420115C>T | CA360729968 | MEGF10 | c.1498C>T (p.Gln500Ter) c.1663C>T (p.Gln555Ter) c.358C>T (p.Gln120Ter) | gnomAD v4 |
| 5 | g.127420115_127420116insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA | CA2768314521 | MEGF10 | c.1498_1499insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln500ProfsTer5) c.1663_1664insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln555ProfsTer5) c.358_359insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln120ProfsTer5) | |
| 5 | g.127420116A>C | CA360729969 | MEGF10 | c.1499A>C (p.Gln500Pro) c.1664A>C (p.Gln555Pro) c.359A>C (p.Gln120Pro) | |
| 5 | g.127420116A>G | CA360729970 | MEGF10 | c.1499A>G (p.Gln500Arg) c.1664A>G (p.Gln555Arg) c.359A>G (p.Gln120Arg) | gnomAD v4 |
| 5 | g.127420116A>T | CA360729971 | MEGF10 | c.1499A>T (p.Gln500Leu) c.1664A>T (p.Gln555Leu) c.359A>T (p.Gln120Leu) | |
| 5 | g.127420117G>A | CA3391592 | MEGF10 | c.1500G>A (p.Gln500=) c.1665G>A (p.Gln555=) c.360G>A (p.Gln120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.127420117G>C | CA360729972 | MEGF10 | c.1500G>C (p.Gln500His) c.1665G>C (p.Gln555His) c.360G>C (p.Gln120His) | |
| 5 | g.127420117G= | CA1580843058 | MEGF10 | c.1500G= (p.Gln500=) c.1665G= (p.Gln555=) c.360G= (p.Gln120=) | |
| 5 | g.127420117G>T | CA360729973 | MEGF10 | c.1500G>T (p.Gln500His) c.1665G>T (p.Gln555His) c.360G>T (p.Gln120His) | |
| 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.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=) |