Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.127420019G>ACA3391577MEGF10c.1427-25G>A (n.1427-25G>A)
c.1592-25G>A (n.1592-25G>A)
c.287-25G>A (n.287-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420019G=CA1580842964MEGF10c.1427-25G= (n.1427-25G=)
c.1592-25G= (n.1592-25G=)
c.287-25G= (n.287-25G=)
5g.127420021G>ACA562761142MEGF10c.1427-23G>A (n.1427-23G>A)
c.1592-23G>A (n.1592-23G>A)
c.287-23G>A (n.287-23G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127420021G=CA1580842966MEGF10c.1427-23G= (n.1427-23G=)
c.1592-23G= (n.1592-23G=)
c.287-23G= (n.287-23G=)
5g.127420021G>TCA2675088411MEGF10c.1427-23G>T (n.1427-23G>T)
c.1592-23G>T (n.1592-23G>T)
c.287-23G>T (n.287-23G>T)
 gnomAD v4
5g.127420024C>GCA2675088412MEGF10c.1427-20C>G (n.1427-20C>G)
c.1592-20C>G (n.1592-20C>G)
c.287-20C>G (n.287-20C>G)
 gnomAD v4
5g.127420025T>CCA2675088413MEGF10c.1427-19T>C (n.1427-19T>C)
c.1592-19T>C (n.1592-19T>C)
c.287-19T>C (n.287-19T>C)
 gnomAD v4
5g.127420027G>TCA2675088414MEGF10c.1427-17G>T (n.1427-17G>T)
c.1592-17G>T (n.1592-17G>T)
c.287-17G>T (n.287-17G>T)
 gnomAD v4
5g.127420028C>ACA126949067MEGF10c.1427-16C>A (n.1427-16C>A)
c.1592-16C>A (n.1592-16C>A)
c.287-16C>A (n.287-16C>A)
 dbSNP gnomAD v4
5g.127420028C=CA1580842968MEGF10c.1427-16C= (n.1427-16C=)
c.1592-16C= (n.1592-16C=)
c.287-16C= (n.287-16C=)
5g.127420028C>TCA3391578MEGF10c.1427-16C>T (n.1427-16C>T)
c.1592-16C>T (n.1592-16C>T)
c.287-16C>T (n.287-16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420029G>ACA3391579MEGF10c.1427-15G>A (n.1427-15G>A)
c.1592-15G>A (n.1592-15G>A)
c.287-15G>A (n.287-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420029G>CCA2578393991MEGF10c.1427-15G>C (n.1427-15G>C)
c.1592-15G>C (n.1592-15G>C)
c.287-15G>C (n.287-15G>C)
 gnomAD v4
5g.127420029G=CA1580842969MEGF10c.1427-15G= (n.1427-15G=)
c.1592-15G= (n.1592-15G=)
c.287-15G= (n.287-15G=)
5g.127420029G>TCA562761146MEGF10c.1427-15G>T (n.1427-15G>T)
c.1592-15G>T (n.1592-15G>T)
c.287-15G>T (n.287-15G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.127420030T>CCA3391580MEGF10c.1427-14T>C (n.1427-14T>C)
c.1592-14T>C (n.1592-14T>C)
c.287-14T>C (n.287-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420030T=CA1580842971MEGF10c.1427-14T= (n.1427-14T=)
c.1592-14T= (n.1592-14T=)
c.287-14T= (n.287-14T=)
5g.127420032C=CA1580842973MEGF10c.1427-12C= (n.1427-12C=)
c.1592-12C= (n.1592-12C=)
c.287-12C= (n.287-12C=)
5g.127420032C>GCA562761148MEGF10c.1427-12C>G (n.1427-12C>G)
c.1592-12C>G (n.1592-12C>G)
c.287-12C>G (n.287-12C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.127420036T>CCA803572304MEGF10c.1427-8T>C (n.1427-8T>C)
c.1592-8T>C (n.1592-8T>C)
c.287-8T>C (n.287-8T>C)
 dbSNP
5g.127420036T=CA1580842974MEGF10c.1427-8T= (n.1427-8T=)
c.1592-8T= (n.1592-8T=)
c.287-8T= (n.287-8T=)
5g.127420037C=CA1580842976MEGF10c.1427-7C= (n.1427-7C=)
c.1592-7C= (n.1592-7C=)
c.287-7C= (n.287-7C=)
5g.127420037C>TCA126949101MEGF10c.1427-7C>T (n.1427-7C>T)
c.1592-7C>T (n.1592-7C>T)
c.287-7C>T (n.287-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127420038G>ACA3391581MEGF10c.1427-6G>A (n.1427-6G>A)
c.1592-6G>A (n.1592-6G>A)
c.287-6G>A (n.287-6G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127420038G=CA1580842977MEGF10c.1427-6G= (n.1427-6G=)
c.1592-6G= (n.1592-6G=)
c.287-6G= (n.287-6G=)
5g.127420038G>TCA2675088415MEGF10c.1427-6G>T (n.1427-6G>T)
c.1592-6G>T (n.1592-6G>T)
c.287-6G>T (n.287-6G>T)
 gnomAD v4
5g.127420039C=CA1580842979MEGF10c.1427-5C= (n.1427-5C=)
c.1592-5C= (n.1592-5C=)
c.287-5C= (n.287-5C=)
5g.127420039C>TCA1580842980MEGF10c.1427-5C>T (n.1427-5C>T)
c.1592-5C>T (n.1592-5C>T)
c.287-5C>T (n.287-5C>T)
 dbSNP
5g.127420040A=CA1580842981MEGF10c.1427-4A= (n.1427-4A=)
c.1592-4A= (n.1592-4A=)
c.287-4A= (n.287-4A=)
5g.127420040A>GCA562761151MEGF10c.1427-4A>G (n.1427-4A>G)
c.1592-4A>G (n.1592-4A>G)
c.287-4A>G (n.287-4A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.127420041C>ACA2578393992MEGF10c.1427-3C>A (n.1427-3C>A)
c.1592-3C>A (n.1592-3C>A)
c.287-3C>A (n.287-3C>A)
5g.127420041C=CA1580842983MEGF10c.1427-3C= (n.1427-3C=)
c.1592-3C= (n.1592-3C=)
c.287-3C= (n.287-3C=)
5g.127420041C>TCA126949110MEGF10c.1427-3C>T (n.1427-3C>T)
c.1592-3C>T (n.1592-3C>T)
c.287-3C>T (n.287-3C>T)
 dbSNP
5g.127420042A>CCA360729801MEGF10c.1427-2A>C (n.1427-2A>C)
c.1592-2A>C (n.1592-2A>C)
c.287-2A>C (n.287-2A>C)
5g.127420042A>GCA360729802MEGF10c.1427-2A>G (n.1427-2A>G)
c.1592-2A>G (n.1592-2A>G)
c.287-2A>G (n.287-2A>G)
 COSMIC
5g.127420042A>TCA360729803MEGF10c.1427-2A>T (n.1427-2A>T)
c.1592-2A>T (n.1592-2A>T)
c.287-2A>T (n.287-2A>T)
5g.127420043G>ACA360729804MEGF10c.1427-1G>A (n.1427-1G>A)
c.1592-1G>A (n.1592-1G>A)
c.287-1G>A (n.287-1G>A)
5g.127420043G>CCA360729806MEGF10c.1427-1G>C (n.1427-1G>C)
c.1592-1G>C (n.1592-1G>C)
c.287-1G>C (n.287-1G>C)
5g.127420043G>TCA360729805MEGF10c.1427-1G>T (n.1427-1G>T)
c.1592-1G>T (n.1592-1G>T)
c.287-1G>T (n.287-1G>T)
5g.127420044G>ACA360729807MEGF10c.1427G>A (p.Gly476Asp)
c.1592G>A (p.Gly531Asp)
c.287G>A (p.Gly96Asp)
 dbSNP
5g.127420044G>CCA360729808MEGF10c.1427G>C (p.Gly476Ala)
c.1592G>C (p.Gly531Ala)
c.287G>C (p.Gly96Ala)
5g.127420044G=CA1580842984MEGF10c.1427G= (p.Gly476=)
c.1592G= (p.Gly531=)
c.287G= (p.Gly96=)
5g.127420044G>TCA360729809MEGF10c.1427G>T (p.Gly476Val)
c.1592G>T (p.Gly531Val)
c.287G>T (p.Gly96Val)
5g.127420045C>ACA446285504MEGF10c.1428C>A (p.Gly476=)
c.1593C>A (p.Gly531=)
c.288C>A (p.Gly96=)
5g.127420045C>GCA446285511MEGF10c.1428C>G (p.Gly476=)
c.1593C>G (p.Gly531=)
c.288C>G (p.Gly96=)
 gnomAD v4
5g.127420045C>TCA446285508MEGF10c.1428C>T (p.Gly476=)
c.1593C>T (p.Gly531=)
c.288C>T (p.Gly96=)
 gnomAD v4 COSMIC
5g.127420046T>ACA360729810MEGF10c.1429T>A (p.Trp477Arg)
c.1594T>A (p.Trp532Arg)
c.289T>A (p.Trp97Arg)
5g.127420046T>CCA360729811MEGF10c.1429T>C (p.Trp477Arg)
c.1594T>C (p.Trp532Arg)
c.289T>C (p.Trp97Arg)
5g.127420046T>GCA360729812MEGF10c.1429T>G (p.Trp477Gly)
c.1594T>G (p.Trp532Gly)
c.289T>G (p.Trp97Gly)
5g.127420047G>ACA360729813MEGF10c.1430G>A (p.Trp477Ter)
c.1595G>A (p.Trp532Ter)
c.290G>A (p.Trp97Ter)
 COSMIC
5g.127420047G>CCA360729814MEGF10c.1430G>C (p.Trp477Ser)
c.1595G>C (p.Trp532Ser)
c.290G>C (p.Trp97Ser)
5g.127420047G>TCA360729815MEGF10c.1430G>T (p.Trp477Leu)
c.1595G>T (p.Trp532Leu)
c.290G>T (p.Trp97Leu)
5g.127420048G>ACA360729816MEGF10c.1431G>A (p.Trp477Ter)
c.1596G>A (p.Trp532Ter)
c.291G>A (p.Trp97Ter)
5g.127420048G>CCA360729817MEGF10c.1431G>C (p.Trp477Cys)
c.1596G>C (p.Trp532Cys)
c.291G>C (p.Trp97Cys)
5g.127420048G>TCA360729818MEGF10c.1431G>T (p.Trp477Cys)
c.1596G>T (p.Trp532Cys)
c.291G>T (p.Trp97Cys)
5g.127420049C>ACA360729821MEGF10c.1432C>A (p.His478Asn)
c.1597C>A (p.His533Asn)
c.292C>A (p.His98Asn)
5g.127420049C>GCA360729820MEGF10c.1432C>G (p.His478Asp)
c.1597C>G (p.His533Asp)
c.292C>G (p.His98Asp)
5g.127420049C>TCA360729819MEGF10c.1432C>T (p.His478Tyr)
c.1597C>T (p.His533Tyr)
c.292C>T (p.His98Tyr)
5g.127420050A=CA1580842986MEGF10c.1433A= (p.His478=)
c.1598A= (p.His533=)
c.293A= (p.His98=)
5g.127420050A>CCA360729822MEGF10c.1433A>C (p.His478Pro)
c.1598A>C (p.His533Pro)
c.293A>C (p.His98Pro)
5g.127420050A>GCA360729823MEGF10c.1433A>G (p.His478Arg)
c.1598A>G (p.His533Arg)
c.293A>G (p.His98Arg)
5g.127420050A>TCA360729824MEGF10c.1433A>T (p.His478Leu)
c.1598A>T (p.His533Leu)
c.293A>T (p.His98Leu)
 ClinVar dbSNP gnomAD v4
5g.127420051C>ACA360729825MEGF10c.1434C>A (p.His478Gln)
c.1599C>A (p.His533Gln)
c.294C>A (p.His98Gln)
 dbSNP COSMIC
5g.127420051C=CA1580842989MEGF10c.1434C= (p.His478=)
c.1599C= (p.His533=)
c.294C= (p.His98=)
5g.127420051C>GCA360729826MEGF10c.1434C>G (p.His478Gln)
c.1599C>G (p.His533Gln)
c.294C>G (p.His98Gln)
5g.127420051C>TCA3391582MEGF10c.1434C>T (p.His478=)
c.1599C>T (p.His533=)
c.294C>T (p.His98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127420052G>ACA3391583MEGF10c.1435G>A (p.Gly479Arg)
c.1600G>A (p.Gly534Arg)
c.295G>A (p.Gly99Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127420052G>CCA360729827MEGF10c.1435G>C (p.Gly479Arg)
c.1600G>C (p.Gly534Arg)
c.295G>C (p.Gly99Arg)
 gnomAD v4
5g.127420052G=CA1580842993MEGF10c.1435G= (p.Gly479=)
c.1600G= (p.Gly534=)
c.295G= (p.Gly99=)
5g.127420052G>TCA360729828MEGF10c.1435G>T (p.Gly479Trp)
c.1600G>T (p.Gly534Trp)
c.295G>T (p.Gly99Trp)
5g.127420053G>ACA360729829MEGF10c.1436G>A (p.Gly479Glu)
c.1601G>A (p.Gly534Glu)
c.296G>A (p.Gly99Glu)
 COSMIC
5g.127420053G>CCA360729830MEGF10c.1436G>C (p.Gly479Ala)
c.1601G>C (p.Gly534Ala)
c.296G>C (p.Gly99Ala)
5g.127420053G=CA1580842995MEGF10c.1436G= (p.Gly479=)
c.1601G= (p.Gly534=)
c.296G= (p.Gly99=)
5g.127420053G>TCA360729831MEGF10c.1436G>T (p.Gly479Val)
c.1601G>T (p.Gly534Val)
c.296G>T (p.Gly99Val)
 dbSNP
5g.127420054G>ACA446285529MEGF10c.1437G>A (p.Gly479=)
c.1602G>A (p.Gly534=)
c.297G>A (p.Gly99=)
5g.127420054G>CCA446285533MEGF10c.1437G>C (p.Gly479=)
c.1602G>C (p.Gly534=)
c.297G>C (p.Gly99=)
 dbSNP
5g.127420054G=CA1580842997MEGF10c.1437G= (p.Gly479=)
c.1602G= (p.Gly534=)
c.297G= (p.Gly99=)
5g.127420054G>TCA3391584MEGF10c.1437G>T (p.Gly479=)
c.1602G>T (p.Gly534=)
c.297G>T (p.Gly99=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420055G>ACA360729833MEGF10c.1438G>A (p.Val480Met)
c.1603G>A (p.Val535Met)
c.298G>A (p.Val100Met)
 dbSNP gnomAD v2 gnomAD v4
5g.127420055G>CCA360729834MEGF10c.1438G>C (p.Val480Leu)
c.1603G>C (p.Val535Leu)
c.298G>C (p.Val100Leu)
5g.127420055G=CA1580843000MEGF10c.1438G= (p.Val480=)
c.1603G= (p.Val535=)
c.298G= (p.Val100=)
5g.127420055G>TCA360729832MEGF10c.1438G>T (p.Val480Leu)
c.1603G>T (p.Val535Leu)
c.298G>T (p.Val100Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127420056T>ACA360729835MEGF10c.1439T>A (p.Val480Glu)
c.1604T>A (p.Val535Glu)
c.299T>A (p.Val100Glu)
5g.127420056T>CCA360729836MEGF10c.1439T>C (p.Val480Ala)
c.1604T>C (p.Val535Ala)
c.299T>C (p.Val100Ala)
5g.127420056T>GCA360729837MEGF10c.1439T>G (p.Val480Gly)
c.1604T>G (p.Val535Gly)
c.299T>G (p.Val100Gly)
5g.127420057G>ACA446285543MEGF10c.1440G>A (p.Val480=)
c.1605G>A (p.Val535=)
c.300G>A (p.Val100=)
5g.127420057G>CCA446285546MEGF10c.1440G>C (p.Val480=)
c.1605G>C (p.Val535=)
c.300G>C (p.Val100=)
5g.127420057G>TCA446285547MEGF10c.1440G>T (p.Val480=)
c.1605G>T (p.Val535=)
c.300G>T (p.Val100=)
5g.127420058G>ACA360729838MEGF10c.1441G>A (p.Asp481Asn)
c.1606G>A (p.Asp536Asn)
c.301G>A (p.Asp101Asn)
 gnomAD v4
5g.127420058G>CCA360729839MEGF10c.1441G>C (p.Asp481His)
c.1606G>C (p.Asp536His)
c.301G>C (p.Asp101His)
5g.127420058G>TCA360729840MEGF10c.1441G>T (p.Asp481Tyr)
c.1606G>T (p.Asp536Tyr)
c.301G>T (p.Asp101Tyr)
5g.127420059A>CCA360729841MEGF10c.1442A>C (p.Asp481Ala)
c.1607A>C (p.Asp536Ala)
c.302A>C (p.Asp101Ala)
5g.127420059A>GCA360729842MEGF10c.1442A>G (p.Asp481Gly)
c.1607A>G (p.Asp536Gly)
c.302A>G (p.Asp101Gly)
 gnomAD v4
5g.127420059A>TCA360729843MEGF10c.1442A>T (p.Asp481Val)
c.1607A>T (p.Asp536Val)
c.302A>T (p.Asp101Val)
 gnomAD v4
5g.127420060C>ACA360729844MEGF10c.1443C>A (p.Asp481Glu)
c.1608C>A (p.Asp536Glu)
c.303C>A (p.Asp101Glu)
5g.127420060C>GCA360729845MEGF10c.1443C>G (p.Asp481Glu)
c.1608C>G (p.Asp536Glu)
c.303C>G (p.Asp101Glu)
5g.127420060C>TCA446285552MEGF10c.1443C>T (p.Asp481=)
c.1608C>T (p.Asp536=)
c.303C>T (p.Asp101=)
5g.127420061T>ACA360729848MEGF10c.1444T>A (p.Cys482Ser)
c.1609T>A (p.Cys537Ser)
c.304T>A (p.Cys102Ser)
5g.127420061T>CCA360729847MEGF10c.1444T>C (p.Cys482Arg)
c.1609T>C (p.Cys537Arg)
c.304T>C (p.Cys102Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.127420061T>GCA360729846MEGF10c.1444T>G (p.Cys482Gly)
c.1609T>G (p.Cys537Gly)
c.304T>G (p.Cys102Gly)
5g.127420061T=CA1580843002MEGF10c.1444T= (p.Cys482=)
c.1609T= (p.Cys537=)
c.304T= (p.Cys102=)
5g.127420062G>ACA360729849MEGF10c.1445G>A (p.Cys482Tyr)
c.1610G>A (p.Cys537Tyr)
c.305G>A (p.Cys102Tyr)
5g.127420062G>CCA360729850MEGF10c.1445G>C (p.Cys482Ser)
c.1610G>C (p.Cys537Ser)
c.305G>C (p.Cys102Ser)
5g.127420062G=CA1580843004MEGF10c.1445G= (p.Cys482=)
c.1610G= (p.Cys537=)
c.305G= (p.Cys102=)
5g.127420062G>TCA360729851MEGF10c.1445G>T (p.Cys482Phe)
c.1610G>T (p.Cys537Phe)
c.305G>T (p.Cys102Phe)
 dbSNP
5g.127420063C>ACA360729852MEGF10c.1446C>A (p.Cys482Ter)
c.1611C>A (p.Cys537Ter)
c.306C>A (p.Cys102Ter)
5g.127420063C>GCA360729853MEGF10c.1446C>G (p.Cys482Trp)
c.1611C>G (p.Cys537Trp)
c.306C>G (p.Cys102Trp)
5g.127420063C>TCA446285559MEGF10c.1446C>T (p.Cys482=)
c.1611C>T (p.Cys537=)
c.306C>T (p.Cys102=)
5g.127420064T>ACA360729854MEGF10c.1447T>A (p.Ser483Thr)
c.1612T>A (p.Ser538Thr)
c.307T>A (p.Ser103Thr)
5g.127420064T>CCA360729855MEGF10c.1447T>C (p.Ser483Pro)
c.1612T>C (p.Ser538Pro)
c.307T>C (p.Ser103Pro)
 gnomAD v4
5g.127420064T>GCA360729856MEGF10c.1447T>G (p.Ser483Ala)
c.1612T>G (p.Ser538Ala)
c.307T>G (p.Ser103Ala)
 dbSNP
5g.127420065C>ACA360729857MEGF10c.1448C>A (p.Ser483Tyr)
c.1613C>A (p.Ser538Tyr)
c.308C>A (p.Ser103Tyr)
5g.127420065C>GCA360729858MEGF10c.1448C>G (p.Ser483Cys)
c.1613C>G (p.Ser538Cys)
c.308C>G (p.Ser103Cys)
5g.127420065C>TCA360729859MEGF10c.1448C>T (p.Ser483Phe)
c.1613C>T (p.Ser538Phe)
c.308C>T (p.Ser103Phe)
5g.127420066C>ACA446285572MEGF10c.1449C>A (p.Ser483=)
c.1614C>A (p.Ser538=)
c.309C>A (p.Ser103=)
5g.127420066C=CA1580843006MEGF10c.1449C= (p.Ser483=)
c.1614C= (p.Ser538=)
c.309C= (p.Ser103=)
5g.127420066C>GCA446285567MEGF10c.1449C>G (p.Ser483=)
c.1614C>G (p.Ser538=)
c.309C>G (p.Ser103=)
5g.127420066C>TCA3391585MEGF10c.1449C>T (p.Ser483=)
c.1614C>T (p.Ser538=)
c.309C>T (p.Ser103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420067A>CCA360729861MEGF10c.1450A>C (p.Ile484Leu)
c.1615A>C (p.Ile539Leu)
c.310A>C (p.Ile104Leu)
5g.127420067A>GCA360729862MEGF10c.1450A>G (p.Ile484Val)
c.1615A>G (p.Ile539Val)
c.310A>G (p.Ile104Val)
5g.127420067A>TCA360729860MEGF10c.1450A>T (p.Ile484Phe)
c.1615A>T (p.Ile539Phe)
c.310A>T (p.Ile104Phe)
5g.127420068T>ACA3391586MEGF10c.1451T>A (p.Ile484Asn)
c.1616T>A (p.Ile539Asn)
c.311T>A (p.Ile104Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420068T>CCA360729863MEGF10c.1451T>C (p.Ile484Thr)
c.1616T>C (p.Ile539Thr)
c.311T>C (p.Ile104Thr)
 gnomAD v4
5g.127420068T>GCA360729864MEGF10c.1451T>G (p.Ile484Ser)
c.1616T>G (p.Ile539Ser)
c.311T>G (p.Ile104Ser)
5g.127420068T=CA1580843008MEGF10c.1451T= (p.Ile484=)
c.1616T= (p.Ile539=)
c.311T= (p.Ile104=)
5g.127420069C>ACA446285584MEGF10c.1452C>A (p.Ile484=)
c.1617C>A (p.Ile539=)
c.312C>A (p.Ile104=)
5g.127420069C=CA1580843010MEGF10c.1452C= (p.Ile484=)
c.1617C= (p.Ile539=)
c.312C= (p.Ile104=)
5g.127420069C>GCA360729865MEGF10c.1452C>G (p.Ile484Met)
c.1617C>G (p.Ile539Met)
c.312C>G (p.Ile104Met)
 dbSNP gnomAD v2 gnomAD v4
5g.127420069C>TCA446285581MEGF10c.1452C>T (p.Ile484=)
c.1617C>T (p.Ile539=)
c.312C>T (p.Ile104=)
5g.127420070A>CCA446285586MEGF10c.1453A>C (p.Arg485=)
c.1618A>C (p.Arg540=)
c.313A>C (p.Arg105=)
5g.127420070A>GCA360729866MEGF10c.1453A>G (p.Arg485Gly)
c.1618A>G (p.Arg540Gly)
c.313A>G (p.Arg105Gly)
5g.127420070A>TCA360729867MEGF10c.1453A>T (p.Arg485Ter)
c.1618A>T (p.Arg540Ter)
c.313A>T (p.Arg105Ter)
5g.127420071G>ACA126949141MEGF10c.1454G>A (p.Arg485Lys)
c.1619G>A (p.Arg540Lys)
c.314G>A (p.Arg105Lys)
 dbSNP gnomAD v4
5g.127420071G>CCA360729868MEGF10c.1454G>C (p.Arg485Thr)
c.1619G>C (p.Arg540Thr)
c.314G>C (p.Arg105Thr)
5g.127420071G=CA1580843012MEGF10c.1454G= (p.Arg485=)
c.1619G= (p.Arg540=)
c.314G= (p.Arg105=)
5g.127420071G>TCA360729869MEGF10c.1454G>T (p.Arg485Ile)
c.1619G>T (p.Arg540Ile)
c.314G>T (p.Arg105Ile)
5g.127420072A>CCA360729870MEGF10c.1455A>C (p.Arg485Ser)
c.1620A>C (p.Arg540Ser)
c.315A>C (p.Arg105Ser)
5g.127420072A>GCA446285602MEGF10c.1455A>G (p.Arg485=)
c.1620A>G (p.Arg540=)
c.315A>G (p.Arg105=)
5g.127420072A>TCA360729871MEGF10c.1455A>T (p.Arg485Ser)
c.1620A>T (p.Arg540Ser)
c.315A>T (p.Arg105Ser)
5g.127420073T>ACA360729872MEGF10c.1456T>A (p.Cys486Ser)
c.1621T>A (p.Cys541Ser)
c.316T>A (p.Cys106Ser)
5g.127420073T>CCA360729873MEGF10c.1456T>C (p.Cys486Arg)
c.1621T>C (p.Cys541Arg)
c.316T>C (p.Cys106Arg)
5g.127420073T>GCA360729874MEGF10c.1456T>G (p.Cys486Gly)
c.1621T>G (p.Cys541Gly)
c.316T>G (p.Cys106Gly)
 dbSNP gnomAD v2
5g.127420073T=CA1580843014MEGF10c.1456T= (p.Cys486=)
c.1621T= (p.Cys541=)
c.316T= (p.Cys106=)
5g.127420074G>ACA360729875MEGF10c.1457G>A (p.Cys486Tyr)
c.1622G>A (p.Cys541Tyr)
c.317G>A (p.Cys106Tyr)
 dbSNP
5g.127420074G>CCA360729876MEGF10c.1457G>C (p.Cys486Ser)
c.1622G>C (p.Cys541Ser)
c.317G>C (p.Cys106Ser)
5g.127420074G=CA1580843015MEGF10c.1457G= (p.Cys486=)
c.1622G= (p.Cys541=)
c.317G= (p.Cys106=)
5g.127420074G>TCA360729877MEGF10c.1457G>T (p.Cys486Phe)
c.1622G>T (p.Cys541Phe)
c.317G>T (p.Cys106Phe)
5g.127420075T>ACA360729878MEGF10c.1458T>A (p.Cys486Ter)
c.1623T>A (p.Cys541Ter)
c.318T>A (p.Cys106Ter)
5g.127420075T>CCA446285617MEGF10c.1458T>C (p.Cys486=)
c.1623T>C (p.Cys541=)
c.318T>C (p.Cys106=)
5g.127420075T>GCA360729879MEGF10c.1458T>G (p.Cys486Trp)
c.1623T>G (p.Cys541Trp)
c.318T>G (p.Cys106Trp)
5g.127420076C>ACA360729880MEGF10c.1459C>A (p.Pro487Thr)
c.1624C>A (p.Pro542Thr)
c.319C>A (p.Pro107Thr)
 gnomAD v4
5g.127420076C>GCA360729881MEGF10c.1459C>G (p.Pro487Ala)
c.1624C>G (p.Pro542Ala)
c.319C>G (p.Pro107Ala)
5g.127420076C>TCA360729882MEGF10c.1459C>T (p.Pro487Ser)
c.1624C>T (p.Pro542Ser)
c.319C>T (p.Pro107Ser)
 gnomAD v4
5g.127420077C>ACA360729883MEGF10c.1460C>A (p.Pro487His)
c.1625C>A (p.Pro542His)
c.320C>A (p.Pro107His)
5g.127420077C=CA1580843017MEGF10c.1460C= (p.Pro487=)
c.1625C= (p.Pro542=)
c.320C= (p.Pro107=)
5g.127420077C>GCA360729884MEGF10c.1460C>G (p.Pro487Arg)
c.1625C>G (p.Pro542Arg)
c.320C>G (p.Pro107Arg)
 ClinVar dbSNP
5g.127420077C>TCA3391587MEGF10c.1460C>T (p.Pro487Leu)
c.1625C>T (p.Pro542Leu)
c.320C>T (p.Pro107Leu)
 dbSNP ExAC gnomAD v2
5g.127420078C>ACA446285622MEGF10c.1461C>A (p.Pro487=)
c.1626C>A (p.Pro542=)
c.321C>A (p.Pro107=)
5g.127420078C>GCA446285624MEGF10c.1461C>G (p.Pro487=)
c.1626C>G (p.Pro542=)
c.321C>G (p.Pro107=)
5g.127420078C>TCA446285626MEGF10c.1461C>T (p.Pro487=)
c.1626C>T (p.Pro542=)
c.321C>T (p.Pro107=)
5g.127420079A>CCA360729885MEGF10c.1462A>C (p.Ser488Arg)
c.1627A>C (p.Ser543Arg)
c.322A>C (p.Ser108Arg)
5g.127420079A>GCA360729886MEGF10c.1462A>G (p.Ser488Gly)
c.1627A>G (p.Ser543Gly)
c.322A>G (p.Ser108Gly)
5g.127420079A>TCA360729887MEGF10c.1462A>T (p.Ser488Cys)
c.1627A>T (p.Ser543Cys)
c.322A>T (p.Ser108Cys)
5g.127420080G>ACA360729888MEGF10c.1463G>A (p.Ser488Asn)
c.1628G>A (p.Ser543Asn)
c.323G>A (p.Ser108Asn)
5g.127420080G>CCA360729889MEGF10c.1463G>C (p.Ser488Thr)
c.1628G>C (p.Ser543Thr)
c.323G>C (p.Ser108Thr)
5g.127420080G>TCA360729890MEGF10c.1463G>T (p.Ser488Ile)
c.1628G>T (p.Ser543Ile)
c.323G>T (p.Ser108Ile)
5g.127420081T>ACA360729891MEGF10c.1464T>A (p.Ser488Arg)
c.1629T>A (p.Ser543Arg)
c.324T>A (p.Ser108Arg)
5g.127420081T>CCA446285636MEGF10c.1464T>C (p.Ser488=)
c.1629T>C (p.Ser543=)
c.324T>C (p.Ser108=)
5g.127420081T>GCA360729892MEGF10c.1464T>G (p.Ser488Arg)
c.1629T>G (p.Ser543Arg)
c.324T>G (p.Ser108Arg)
5g.127420082G>ACA360729893MEGF10c.1465G>A (p.Gly489Ser)
c.1630G>A (p.Gly544Ser)
c.325G>A (p.Gly109Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.127420082G>CCA360729894MEGF10c.1465G>C (p.Gly489Arg)
c.1630G>C (p.Gly544Arg)
c.325G>C (p.Gly109Arg)
5g.127420082G=CA1580843019MEGF10c.1465G= (p.Gly489=)
c.1630G= (p.Gly544=)
c.325G= (p.Gly109=)
5g.127420082G>TCA360729895MEGF10c.1465G>T (p.Gly489Cys)
c.1630G>T (p.Gly544Cys)
c.325G>T (p.Gly109Cys)
5g.127420083G>ACA3391588MEGF10c.1466G>A (p.Gly489Asp)
c.1631G>A (p.Gly544Asp)
c.326G>A (p.Gly109Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127420083G>CCA360729896MEGF10c.1466G>C (p.Gly489Ala)
c.1631G>C (p.Gly544Ala)
c.326G>C (p.Gly109Ala)
5g.127420083G=CA1580843021MEGF10c.1466G= (p.Gly489=)
c.1631G= (p.Gly544=)
c.326G= (p.Gly109=)
5g.127420083G>TCA360729897MEGF10c.1466G>T (p.Gly489Val)
c.1631G>T (p.Gly544Val)
c.326G>T (p.Gly109Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.127420084C>ACA446285643MEGF10c.1467C>A (p.Gly489=)
c.1632C>A (p.Gly544=)
c.327C>A (p.Gly109=)
5g.127420084C=CA1580843024MEGF10c.1467C= (p.Gly489=)
c.1632C= (p.Gly544=)
c.327C= (p.Gly109=)
5g.127420084C>GCA446285646MEGF10c.1467C>G (p.Gly489=)
c.1632C>G (p.Gly544=)
c.327C>G (p.Gly109=)
5g.127420084C>TCA446285647MEGF10c.1467C>T (p.Gly489=)
c.1632C>T (p.Gly544=)
c.327C>T (p.Gly109=)
 ClinVar dbSNP
5g.127420085A=CA1580843026MEGF10c.1468A= (p.Thr490=)
c.1633A= (p.Thr545=)
c.328A= (p.Thr110=)
5g.127420085A>CCA360729898MEGF10c.1468A>C (p.Thr490Pro)
c.1633A>C (p.Thr545Pro)
c.328A>C (p.Thr110Pro)
5g.127420085A>GCA360729899MEGF10c.1468A>G (p.Thr490Ala)
c.1633A>G (p.Thr545Ala)
c.328A>G (p.Thr110Ala)
 dbSNP gnomAD v4
5g.127420085A>TCA360729900MEGF10c.1468A>T (p.Thr490Ser)
c.1633A>T (p.Thr545Ser)
c.328A>T (p.Thr110Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.127420086C>ACA360729901MEGF10c.1469C>A (p.Thr490Lys)
c.1634C>A (p.Thr545Lys)
c.329C>A (p.Thr110Lys)
5g.127420086C=CA1580843027MEGF10c.1469C= (p.Thr490=)
c.1634C= (p.Thr545=)
c.329C= (p.Thr110=)
5g.127420086C>GCA360729902MEGF10c.1469C>G (p.Thr490Arg)
c.1634C>G (p.Thr545Arg)
c.329C>G (p.Thr110Arg)
5g.127420086C>TCA126949169MEGF10c.1469C>T (p.Thr490Ile)
c.1634C>T (p.Thr545Ile)
c.329C>T (p.Thr110Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.127420087A=CA1580843029MEGF10c.1470A= (p.Thr490=)
c.1635A= (p.Thr545=)
c.330A= (p.Thr110=)
5g.127420087A>CCA446285652MEGF10c.1470A>C (p.Thr490=)
c.1635A>C (p.Thr545=)
c.330A>C (p.Thr110=)
5g.127420087A>GCA446285654MEGF10c.1470A>G (p.Thr490=)
c.1635A>G (p.Thr545=)
c.330A>G (p.Thr110=)
 gnomAD v4 COSMIC
5g.127420087A>TCA446285655MEGF10c.1470A>T (p.Thr490=)
c.1635A>T (p.Thr545=)
c.330A>T (p.Thr110=)
 dbSNP
5g.127420088T>ACA360729905MEGF10c.1471T>A (p.Trp491Arg)
c.1636T>A (p.Trp546Arg)
c.331T>A (p.Trp111Arg)
5g.127420088T>CCA360729904MEGF10c.1471T>C (p.Trp491Arg)
c.1636T>C (p.Trp546Arg)
c.331T>C (p.Trp111Arg)
5g.127420088T>GCA360729903MEGF10c.1471T>G (p.Trp491Gly)
c.1636T>G (p.Trp546Gly)
c.331T>G (p.Trp111Gly)
5g.127420089G>ACA360729906MEGF10c.1472G>A (p.Trp491Ter)
c.1637G>A (p.Trp546Ter)
c.332G>A (p.Trp111Ter)
 dbSNP
5g.127420089G>CCA360729907MEGF10c.1472G>C (p.Trp491Ser)
c.1637G>C (p.Trp546Ser)
c.332G>C (p.Trp111Ser)
5g.127420089G=CA1580843030MEGF10c.1472G= (p.Trp491=)
c.1637G= (p.Trp546=)
c.332G= (p.Trp111=)
5g.127420089G>TCA360729908MEGF10c.1472G>T (p.Trp491Leu)
c.1637G>T (p.Trp546Leu)
c.332G>T (p.Trp111Leu)
5g.127420090G>ACA360729909MEGF10c.1473G>A (p.Trp491Ter)
c.1638G>A (p.Trp546Ter)
c.333G>A (p.Trp111Ter)
5g.127420090G>CCA360729910MEGF10c.1473G>C (p.Trp491Cys)
c.1638G>C (p.Trp546Cys)
c.333G>C (p.Trp111Cys)
5g.127420090G>TCA360729911MEGF10c.1473G>T (p.Trp491Cys)
c.1638G>T (p.Trp546Cys)
c.333G>T (p.Trp111Cys)
5g.127420091G>ACA360729912MEGF10c.1474G>A (p.Gly492Ser)
c.1639G>A (p.Gly547Ser)
c.334G>A (p.Gly112Ser)
5g.127420091G>CCA360729913MEGF10c.1474G>C (p.Gly492Arg)
c.1639G>C (p.Gly547Arg)
c.334G>C (p.Gly112Arg)
5g.127420091G>TCA360729914MEGF10c.1474G>T (p.Gly492Cys)
c.1639G>T (p.Gly547Cys)
c.334G>T (p.Gly112Cys)
5g.127420092G>ACA3391589MEGF10c.1475G>A (p.Gly492Asp)
c.1640G>A (p.Gly547Asp)
c.335G>A (p.Gly112Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420092G>CCA360729915MEGF10c.1475G>C (p.Gly492Ala)
c.1640G>C (p.Gly547Ala)
c.335G>C (p.Gly112Ala)
5g.127420092G=CA1580843032MEGF10c.1475G= (p.Gly492=)
c.1640G= (p.Gly547=)
c.335G= (p.Gly112=)
5g.127420092G>TCA360729916MEGF10c.1475G>T (p.Gly492Val)
c.1640G>T (p.Gly547Val)
c.335G>T (p.Gly112Val)
5g.127420093C>ACA446285673MEGF10c.1476C>A (p.Gly492=)
c.1641C>A (p.Gly547=)
c.336C>A (p.Gly112=)
5g.127420093C>GCA446285671MEGF10c.1476C>G (p.Gly492=)
c.1641C>G (p.Gly547=)
c.336C>G (p.Gly112=)
5g.127420093C>TCA446285669MEGF10c.1476C>T (p.Gly492=)
c.1641C>T (p.Gly547=)
c.336C>T (p.Gly112=)
 ClinVar gnomAD v4
5g.127420094T>ACA360729919MEGF10c.1477T>A (p.Phe493Ile)
c.1642T>A (p.Phe548Ile)
c.337T>A (p.Phe113Ile)
5g.127420094T>CCA360729918MEGF10c.1477T>C (p.Phe493Leu)
c.1642T>C (p.Phe548Leu)
c.337T>C (p.Phe113Leu)
5g.127420094T>GCA360729917MEGF10c.1477T>G (p.Phe493Val)
c.1642T>G (p.Phe548Val)
c.337T>G (p.Phe113Val)
5g.127420095T>ACA360729920MEGF10c.1478T>A (p.Phe493Tyr)
c.1643T>A (p.Phe548Tyr)
c.338T>A (p.Phe113Tyr)
5g.127420095T>CCA360729922MEGF10c.1478T>C (p.Phe493Ser)
c.1643T>C (p.Phe548Ser)
c.338T>C (p.Phe113Ser)
 gnomAD v4
5g.127420095T>GCA360729921MEGF10c.1478T>G (p.Phe493Cys)
c.1643T>G (p.Phe548Cys)
c.338T>G (p.Phe113Cys)
5g.127420096T>ACA360729923MEGF10c.1479T>A (p.Phe493Leu)
c.1644T>A (p.Phe548Leu)
c.339T>A (p.Phe113Leu)
5g.127420096T>CCA446285681MEGF10c.1479T>C (p.Phe493=)
c.1644T>C (p.Phe548=)
c.339T>C (p.Phe113=)
5g.127420096T>GCA360729924MEGF10c.1479T>G (p.Phe493Leu)
c.1644T>G (p.Phe548Leu)
c.339T>G (p.Phe113Leu)
5g.127420097G>ACA360729925MEGF10c.1480G>A (p.Gly494Ser)
c.1645G>A (p.Gly549Ser)
c.340G>A (p.Gly114Ser)
5g.127420097G>CCA360729926MEGF10c.1480G>C (p.Gly494Arg)
c.1645G>C (p.Gly549Arg)
c.340G>C (p.Gly114Arg)
5g.127420097G>TCA360729927MEGF10c.1480G>T (p.Gly494Cys)
c.1645G>T (p.Gly549Cys)
c.340G>T (p.Gly114Cys)
5g.127420098G>ACA3391590MEGF10c.1481G>A (p.Gly494Asp)
c.1646G>A (p.Gly549Asp)
c.341G>A (p.Gly114Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.127420098G>CCA360729928MEGF10c.1481G>C (p.Gly494Ala)
c.1646G>C (p.Gly549Ala)
c.341G>C (p.Gly114Ala)
5g.127420098G=CA1580843033MEGF10c.1481G= (p.Gly494=)
c.1646G= (p.Gly549=)
c.341G= (p.Gly114=)
5g.127420098G>TCA360729929MEGF10c.1481G>T (p.Gly494Val)
c.1646G>T (p.Gly549Val)
c.341G>T (p.Gly114Val)
5g.127420099C>ACA446285688MEGF10c.1482C>A (p.Gly494=)
c.1647C>A (p.Gly549=)
c.342C>A (p.Gly114=)
 gnomAD v4
5g.127420099C=CA1580843035MEGF10c.1482C= (p.Gly494=)
c.1647C= (p.Gly549=)
c.342C= (p.Gly114=)
5g.127420099C>GCA446285691MEGF10c.1482C>G (p.Gly494=)
c.1647C>G (p.Gly549=)
c.342C>G (p.Gly114=)
5g.127420099C>TCA446285689MEGF10c.1482C>T (p.Gly494=)
c.1647C>T (p.Gly549=)
c.342C>T (p.Gly114=)
 dbSNP gnomAD v3 gnomAD v4
5g.127420100T>ACA360729930MEGF10c.1483T>A (p.Cys495Ser)
c.1648T>A (p.Cys550Ser)
c.343T>A (p.Cys115Ser)
5g.127420100T>CCA360729931MEGF10c.1483T>C (p.Cys495Arg)
c.1648T>C (p.Cys550Arg)
c.343T>C (p.Cys115Arg)
5g.127420100T>GCA360729932MEGF10c.1483T>G (p.Cys495Gly)
c.1648T>G (p.Cys550Gly)
c.343T>G (p.Cys115Gly)
5g.127420101G>ACA360729934MEGF10c.1484G>A (p.Cys495Tyr)
c.1649G>A (p.Cys550Tyr)
c.344G>A (p.Cys115Tyr)
5g.127420101G>CCA3391591MEGF10c.1484G>C (p.Cys495Ser)
c.1649G>C (p.Cys550Ser)
c.344G>C (p.Cys115Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.127420101G=CA1580843037MEGF10c.1484G= (p.Cys495=)
c.1649G= (p.Cys550=)
c.344G= (p.Cys115=)
5g.127420101G>TCA360729933MEGF10c.1484G>T (p.Cys495Phe)
c.1649G>T (p.Cys550Phe)
c.344G>T (p.Cys115Phe)
5g.127420102T>ACA360729935MEGF10c.1485T>A (p.Cys495Ter)
c.1650T>A (p.Cys550Ter)
c.345T>A (p.Cys115Ter)
5g.127420102T>CCA446285697MEGF10c.1485T>C (p.Cys495=)
c.1650T>C (p.Cys550=)
c.345T>C (p.Cys115=)
5g.127420102T>GCA360729936MEGF10c.1485T>G (p.Cys495Trp)
c.1650T>G (p.Cys550Trp)
c.345T>G (p.Cys115Trp)
5g.127420103A>CCA360729937MEGF10c.1486A>C (p.Asn496His)
c.1651A>C (p.Asn551His)
c.346A>C (p.Asn116His)
5g.127420103A>GCA360729938MEGF10c.1486A>G (p.Asn496Asp)
c.1651A>G (p.Asn551Asp)
c.346A>G (p.Asn116Asp)
5g.127420103A>TCA360729939MEGF10c.1486A>T (p.Asn496Tyr)
c.1651A>T (p.Asn551Tyr)
c.346A>T (p.Asn116Tyr)
5g.127420104A=CA1580843040MEGF10c.1487A= (p.Asn496=)
c.1652A= (p.Asn551=)
c.347A= (p.Asn116=)
5g.127420104A>CCA360729940MEGF10c.1487A>C (p.Asn496Thr)
c.1652A>C (p.Asn551Thr)
c.347A>C (p.Asn116Thr)
5g.127420104A>GCA360729941MEGF10c.1487A>G (p.Asn496Ser)
c.1652A>G (p.Asn551Ser)
c.347A>G (p.Asn116Ser)
 dbSNP gnomAD v4
5g.127420104A>TCA360729942MEGF10c.1487A>T (p.Asn496Ile)
c.1652A>T (p.Asn551Ile)
c.347A>T (p.Asn116Ile)
5g.127420105C>ACA360729943MEGF10c.1488C>A (p.Asn496Lys)
c.1653C>A (p.Asn551Lys)
c.348C>A (p.Asn116Lys)
 dbSNP gnomAD v4
5g.127420105C=CA1580843044MEGF10c.1488C= (p.Asn496=)
c.1653C= (p.Asn551=)
c.348C= (p.Asn116=)
5g.127420105C>GCA360729944MEGF10c.1488C>G (p.Asn496Lys)
c.1653C>G (p.Asn551Lys)
c.348C>G (p.Asn116Lys)
5g.127420105C>TCA446285704MEGF10c.1488C>T (p.Asn496=)
c.1653C>T (p.Asn551=)
c.348C>T (p.Asn116=)
 dbSNP gnomAD v2
5g.127420106T>ACA360729945MEGF10c.1489T>A (p.Leu497Ile)
c.1654T>A (p.Leu552Ile)
c.349T>A (p.Leu117Ile)
5g.127420106T>CCA446285708MEGF10c.1489T>C (p.Leu497=)
c.1654T>C (p.Leu552=)
c.349T>C (p.Leu117=)
 gnomAD v4
5g.127420106T>GCA360729946MEGF10c.1489T>G (p.Leu497Val)
c.1654T>G (p.Leu552Val)
c.349T>G (p.Leu117Val)
 dbSNP gnomAD v3 gnomAD v4
5g.127420106T=CA1580843048MEGF10c.1489T= (p.Leu497=)
c.1654T= (p.Leu552=)
c.349T= (p.Leu117=)
5g.127420107T>ACA360729949MEGF10c.1490T>A (p.Leu497Ter)
c.1655T>A (p.Leu552Ter)
c.350T>A (p.Leu117Ter)
5g.127420107T>CCA360729948MEGF10c.1490T>C (p.Leu497Ser)
c.1655T>C (p.Leu552Ser)
c.350T>C (p.Leu117Ser)
5g.127420107T>GCA360729947MEGF10c.1490T>G (p.Leu497Ter)
c.1655T>G (p.Leu552Ter)
c.350T>G (p.Leu117Ter)
5g.127420108A>CCA360729950MEGF10c.1491A>C (p.Leu497Phe)
c.1656A>C (p.Leu552Phe)
c.351A>C (p.Leu117Phe)
5g.127420108A>GCA446285714MEGF10c.1491A>G (p.Leu497=)
c.1656A>G (p.Leu552=)
c.351A>G (p.Leu117=)
 ClinVar gnomAD v4
5g.127420108A>TCA360729951MEGF10c.1491A>T (p.Leu497Phe)
c.1656A>T (p.Leu552Phe)
c.351A>T (p.Leu117Phe)
5g.127420109A>CCA360729952MEGF10c.1492A>C (p.Thr498Pro)
c.1657A>C (p.Thr553Pro)
c.352A>C (p.Thr118Pro)
5g.127420109A>GCA360729953MEGF10c.1492A>G (p.Thr498Ala)
c.1657A>G (p.Thr553Ala)
c.352A>G (p.Thr118Ala)
 gnomAD v4
5g.127420109A>TCA360729954MEGF10c.1492A>T (p.Thr498Ser)
c.1657A>T (p.Thr553Ser)
c.352A>T (p.Thr118Ser)
5g.127420110C>ACA360729955MEGF10c.1493C>A (p.Thr498Lys)
c.1658C>A (p.Thr553Lys)
c.353C>A (p.Thr118Lys)
5g.127420110C=CA1580843050MEGF10c.1493C= (p.Thr498=)
c.1658C= (p.Thr553=)
c.353C= (p.Thr118=)
5g.127420110C>GCA360729956MEGF10c.1493C>G (p.Thr498Arg)
c.1658C>G (p.Thr553Arg)
c.353C>G (p.Thr118Arg)
5g.127420110C>TCA360729957MEGF10c.1493C>T (p.Thr498Ile)
c.1658C>T (p.Thr553Ile)
c.353C>T (p.Thr118Ile)
 dbSNP
5g.127420111A=CA1580843053MEGF10c.1494A= (p.Thr498=)
c.1659A= (p.Thr553=)
c.354A= (p.Thr118=)
5g.127420111A>CCA446285724MEGF10c.1494A>C (p.Thr498=)
c.1659A>C (p.Thr553=)
c.354A>C (p.Thr118=)
5g.127420111A>GCA446285726MEGF10c.1494A>G (p.Thr498=)
c.1659A>G (p.Thr553=)
c.354A>G (p.Thr118=)
 dbSNP gnomAD v3 gnomAD v4
5g.127420111A>TCA446285728MEGF10c.1494A>T (p.Thr498=)
c.1659A>T (p.Thr553=)
c.354A>T (p.Thr118=)
5g.127420112T>ACA360729958MEGF10c.1495T>A (p.Cys499Ser)
c.1660T>A (p.Cys554Ser)
c.355T>A (p.Cys119Ser)
5g.127420112T>CCA360729959MEGF10c.1495T>C (p.Cys499Arg)
c.1660T>C (p.Cys554Arg)
c.355T>C (p.Cys119Arg)
5g.127420112T>GCA360729960MEGF10c.1495T>G (p.Cys499Gly)
c.1660T>G (p.Cys554Gly)
c.355T>G (p.Cys119Gly)
 gnomAD v4
5g.127420113G>ACA360729961MEGF10c.1496G>A (p.Cys499Tyr)
c.1661G>A (p.Cys554Tyr)
c.356G>A (p.Cys119Tyr)
5g.127420113G>CCA360729962MEGF10c.1496G>C (p.Cys499Ser)
c.1661G>C (p.Cys554Ser)
c.356G>C (p.Cys119Ser)
5g.127420113G>TCA360729963MEGF10c.1496G>T (p.Cys499Phe)
c.1661G>T (p.Cys554Phe)
c.356G>T (p.Cys119Phe)
5g.127420114C>ACA360729964MEGF10c.1497C>A (p.Cys499Ter)
c.1662C>A (p.Cys554Ter)
c.357C>A (p.Cys119Ter)
5g.127420114C>GCA360729965MEGF10c.1497C>G (p.Cys499Trp)
c.1662C>G (p.Cys554Trp)
c.357C>G (p.Cys119Trp)
5g.127420114C>TCA446285737MEGF10c.1497C>T (p.Cys499=)
c.1662C>T (p.Cys554=)
c.357C>T (p.Cys119=)
 gnomAD v4
5g.127420115C>ACA360729966MEGF10c.1498C>A (p.Gln500Lys)
c.1663C>A (p.Gln555Lys)
c.358C>A (p.Gln120Lys)
5g.127420115C>GCA360729967MEGF10c.1498C>G (p.Gln500Glu)
c.1663C>G (p.Gln555Glu)
c.358C>G (p.Gln120Glu)
5g.127420115C>TCA360729968MEGF10c.1498C>T (p.Gln500Ter)
c.1663C>T (p.Gln555Ter)
c.358C>T (p.Gln120Ter)
 gnomAD v4
5g.127420115_127420116insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACACA2768314521MEGF10c.1498_1499insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln500ProfsTer5)
c.1663_1664insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln555ProfsTer5)
c.358_359insCAAGGCGTTTCTAAAGAGAAACGTGGTTTGGAAAGGCTCAACA (p.Gln120ProfsTer5)
5g.127420116A>CCA360729969MEGF10c.1499A>C (p.Gln500Pro)
c.1664A>C (p.Gln555Pro)
c.359A>C (p.Gln120Pro)
5g.127420116A>GCA360729970MEGF10c.1499A>G (p.Gln500Arg)
c.1664A>G (p.Gln555Arg)
c.359A>G (p.Gln120Arg)
 gnomAD v4
5g.127420116A>TCA360729971MEGF10c.1499A>T (p.Gln500Leu)
c.1664A>T (p.Gln555Leu)
c.359A>T (p.Gln120Leu)
5g.127420117G>ACA3391592MEGF10c.1500G>A (p.Gln500=)
c.1665G>A (p.Gln555=)
c.360G>A (p.Gln120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.127420117G>CCA360729972MEGF10c.1500G>C (p.Gln500His)
c.1665G>C (p.Gln555His)
c.360G>C (p.Gln120His)
5g.127420117G=CA1580843058MEGF10c.1500G= (p.Gln500=)
c.1665G= (p.Gln555=)
c.360G= (p.Gln120=)
5g.127420117G>TCA360729973MEGF10c.1500G>T (p.Gln500His)
c.1665G>T (p.Gln555His)
c.360G>T (p.Gln120His)
5g.127420118T>ACA360729974MEGF10c.1501T>A (p.Cys501Ser)
c.1666T>A (p.Cys556Ser)
c.361T>A (p.Cys121Ser)
5g.127420118T>CCA360729975MEGF10c.1501T>C (p.Cys501Arg)
c.1666T>C (p.Cys556Arg)
c.361T>C (p.Cys121Arg)
5g.127420118T>GCA360729976MEGF10c.1501T>G (p.Cys501Gly)
c.1666T>G (p.Cys556Gly)
c.361T>G (p.Cys121Gly)
5g.127420119G>ACA360729978MEGF10c.1502G>A (p.Cys501Tyr)
c.1667G>A (p.Cys556Tyr)
c.362G>A (p.Cys121Tyr)
5g.127420119G>CCA360729979MEGF10c.1502G>C (p.Cys501Ser)
c.1667G>C (p.Cys556Ser)
c.362G>C (p.Cys121Ser)
5g.127420119G>TCA360729977MEGF10c.1502G>T (p.Cys501Phe)
c.1667G>T (p.Cys556Phe)
c.362G>T (p.Cys121Phe)

Number of alleles fetched