Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.65238614G>CCA6671036LEMD3c.1775+33G>C (n.1775+33G>C)
c.1772+33G>C (n.1772+33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238614G=CA2042444389LEMD3c.1775+33G= (n.1775+33G=)
c.1772+33G= (n.1772+33G=)
12g.65238616A>GCA2619669447LEMD3c.1775+35A>G (n.1775+35A>G)
c.1772+35A>G (n.1772+35A>G)
 gnomAD v4
12g.65238617C>TCA2619669448LEMD3c.1775+36C>T (n.1775+36C>T)
c.1772+36C>T (n.1772+36C>T)
 gnomAD v4
12g.65238618T>CCA2619669449LEMD3c.1775+37T>C (n.1775+37T>C)
c.1772+37T>C (n.1772+37T>C)
 gnomAD v4
12g.65238618T=CA2042444390LEMD3c.1775+37T= (n.1775+37T=)
c.1772+37T= (n.1772+37T=)
12g.65238619G>TCA2575215367LEMD3c.1775+38G>T (n.1775+38G>T)
c.1772+38G>T (n.1772+38G>T)
 gnomAD v4
12g.65238621dupCA2042444391LEMD3c.1775+40dup (n.1775+40dup)
c.1772+40dup (n.1772+40dup)
 dbSNP
12g.65238626A=CA2042444392LEMD3c.1776-43A= (n.1776-43A=)
c.1773-43A= (n.1773-43A=)
12g.65238626A>GCA238915063LEMD3c.1776-43A>G (n.1776-43A>G)
c.1773-43A>G (n.1773-43A>G)
 dbSNP
12g.65238627_65238628delinsTGCA2042444395LEMD3c.1776-42_1776-41delinsTG (n.1776-42_1776-41delinsTG)
c.1773-42_1773-41delinsTG (n.1773-42_1773-41delinsTG)
12g.65238628G>ACA948623255LEMD3c.1776-41G>A (n.1776-41G>A)
c.1773-41G>A (n.1773-41G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.65238628G=CA2042444399LEMD3c.1776-41G= (n.1776-41G=)
c.1773-41G= (n.1773-41G=)
12g.65238629delCA691028041LEMD3c.1776-40del (n.1776-40del)
c.1773-40del (n.1773-40del)
 dbSNP gnomAD v3 gnomAD v4
12g.65238630T>CCA2619669450LEMD3c.1776-39T>C (n.1776-39T>C)
c.1773-39T>C (n.1773-39T>C)
 gnomAD v4
12g.65238630T>GCA6671037LEMD3c.1776-39T>G (n.1776-39T>G)
c.1773-39T>G (n.1773-39T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238630T=CA2042444404LEMD3c.1776-39T= (n.1776-39T=)
c.1773-39T= (n.1773-39T=)
12g.65238633T>CCA2619669451LEMD3c.1776-36T>C (n.1776-36T>C)
c.1773-36T>C (n.1773-36T>C)
 gnomAD v4
12g.65238634T>CCA605710003LEMD3c.1776-35T>C (n.1776-35T>C)
c.1773-35T>C (n.1773-35T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.65238634T=CA2042444409LEMD3c.1776-35T= (n.1776-35T=)
c.1773-35T= (n.1773-35T=)
12g.65238635G>ACA948623259LEMD3c.1776-34G>A (n.1776-34G>A)
c.1773-34G>A (n.1773-34G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.65238635G=CA2042444413LEMD3c.1776-34G= (n.1776-34G=)
c.1773-34G= (n.1773-34G=)
12g.65238642A=CA2042444415LEMD3c.1776-27A= (n.1776-27A=)
c.1773-27A= (n.1773-27A=)
12g.65238642A>TCA6671038LEMD3c.1776-27A>T (n.1776-27A>T)
c.1773-27A>T (n.1773-27A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238648A=CA2042444421LEMD3c.1776-21A= (n.1776-21A=)
c.1773-21A= (n.1773-21A=)
12g.65238648A>GCA6671039LEMD3c.1776-21A>G (n.1776-21A>G)
c.1773-21A>G (n.1773-21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238649C=CA2042444427LEMD3c.1776-20C= (n.1776-20C=)
c.1773-20C= (n.1773-20C=)
12g.65238649C>TCA691028064LEMD3c.1776-20C>T (n.1776-20C>T)
c.1773-20C>T (n.1773-20C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.65238649_65238653delinsCCTTACA2042444424LEMD3c.1776-20_1776-16delinsCCTTA (n.1776-20_1776-16delinsCCTTA)
c.1773-20_1773-16delinsCCTTA (n.1773-20_1773-16delinsCCTTA)
12g.65238650C>GCA2619669452LEMD3c.1776-19C>G (n.1776-19C>G)
c.1773-19C>G (n.1773-19C>G)
 gnomAD v4
12g.65238654_65238657delCA6671040LEMD3c.1776-15_1776-12del (n.1776-15_1776-12del)
c.1773-15_1773-12del (n.1773-15_1773-12del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238651T>CCA691028074LEMD3c.1776-18T>C (n.1776-18T>C)
c.1773-18T>C (n.1773-18T>C)
 dbSNP gnomAD v4
12g.65238651T=CA2042444432LEMD3c.1776-18T= (n.1776-18T=)
c.1773-18T= (n.1773-18T=)
12g.65238653A=CA2042444433LEMD3c.1776-16A= (n.1776-16A=)
c.1773-16A= (n.1773-16A=)
12g.65238653A>CCA948623280LEMD3c.1776-16A>C (n.1776-16A>C)
c.1773-16A>C (n.1773-16A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.65238653A>TCA2619669453LEMD3c.1776-16A>T (n.1776-16A>T)
c.1773-16A>T (n.1773-16A>T)
 gnomAD v4
12g.65238655T>GCA2042444437LEMD3c.1776-14T>G (n.1776-14T>G)
c.1773-14T>G (n.1773-14T>G)
 dbSNP gnomAD v4
12g.65238655T=CA2042444434LEMD3c.1776-14T= (n.1776-14T=)
c.1773-14T= (n.1773-14T=)
12g.65238658T>CCA6671041LEMD3c.1776-11T>C (n.1776-11T>C)
c.1773-11T>C (n.1773-11T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.65238658T=CA2042444438LEMD3c.1776-11T= (n.1776-11T=)
c.1773-11T= (n.1773-11T=)
12g.65238667A>CCA385671050LEMD3c.1776-2A>C (n.1776-2A>C)
c.1773-2A>C (n.1773-2A>C)
12g.65238667A>GCA385671052LEMD3c.1776-2A>G (n.1776-2A>G)
c.1773-2A>G (n.1773-2A>G)
12g.65238667A>TCA385671051LEMD3c.1776-2A>T (n.1776-2A>T)
c.1773-2A>T (n.1773-2A>T)
12g.65238668G>ACA385671053LEMD3c.1776-1G>A (n.1776-1G>A)
c.1773-1G>A (n.1773-1G>A)
12g.65238668G>CCA385671055LEMD3c.1776-1G>C (n.1776-1G>C)
c.1773-1G>C (n.1773-1G>C)
12g.65238668G>TCA385671054LEMD3c.1776-1G>T (n.1776-1G>T)
c.1773-1G>T (n.1773-1G>T)
12g.65238669G>ACA6671042LEMD3c.1776G>A (p.Arg592=)
c.1773G>A (p.Arg591=)
 dbSNP ExAC gnomAD v2
12g.65238669G>CCA385671056LEMD3c.1776G>C (p.Arg592Ser)
c.1773G>C (p.Arg591Ser)
12g.65238669G=CA2042444445LEMD3c.1776G= (p.Arg592=)
c.1773G= (p.Arg591=)
12g.65238669G>TCA385671057LEMD3c.1776G>T (p.Arg592Ser)
c.1773G>T (p.Arg591Ser)
 gnomAD v4
12g.65238670T>ACA385671058LEMD3c.1777T>A (p.Cys593Ser)
c.1774T>A (p.Cys592Ser)
12g.65238670T>CCA385671059LEMD3c.1777T>C (p.Cys593Arg)
c.1774T>C (p.Cys592Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.65238670T>GCA385671060LEMD3c.1777T>G (p.Cys593Gly)
c.1774T>G (p.Cys592Gly)
12g.65238670T=CA2042444450LEMD3c.1777T= (p.Cys593=)
c.1774T= (p.Cys592=)
12g.65238671G>ACA385671061LEMD3c.1778G>A (p.Cys593Tyr)
c.1775G>A (p.Cys592Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.65238671G>CCA385671062LEMD3c.1778G>C (p.Cys593Ser)
c.1775G>C (p.Cys592Ser)
12g.65238671G=CA2042444458LEMD3c.1778G= (p.Cys593=)
c.1775G= (p.Cys592=)
12g.65238671G>TCA385671063LEMD3c.1778G>T (p.Cys593Phe)
c.1775G>T (p.Cys592Phe)
12g.65238672T>ACA385671064LEMD3c.1779T>A (p.Cys593Ter)
c.1776T>A (p.Cys592Ter)
12g.65238672T>CCA480666105LEMD3c.1779T>C (p.Cys593=)
c.1776T>C (p.Cys592=)
12g.65238672T>GCA385671065LEMD3c.1779T>G (p.Cys593Trp)
c.1776T>G (p.Cys592Trp)
 gnomAD v4
12g.65238673G>ACA385671068LEMD3c.1780G>A (p.Val594Ile)
c.1777G>A (p.Val593Ile)
12g.65238673G>CCA385671067LEMD3c.1780G>C (p.Val594Leu)
c.1777G>C (p.Val593Leu)
12g.65238673G>TCA385671066LEMD3c.1780G>T (p.Val594Phe)
c.1777G>T (p.Val593Phe)
12g.65238674T>ACA385671069LEMD3c.1781T>A (p.Val594Asp)
c.1778T>A (p.Val593Asp)
12g.65238674T>CCA385671070LEMD3c.1781T>C (p.Val594Ala)
c.1778T>C (p.Val593Ala)
12g.65238674T>GCA385671071LEMD3c.1781T>G (p.Val594Gly)
c.1778T>G (p.Val593Gly)
12g.65238675T>ACA480666107LEMD3c.1782T>A (p.Val594=)
c.1779T>A (p.Val593=)
12g.65238675T>CCA480666108LEMD3c.1782T>C (p.Val594=)
c.1779T>C (p.Val593=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.65238675T>GCA480666109LEMD3c.1782T>G (p.Val594=)
c.1779T>G (p.Val593=)
12g.65238675T=CA2042444461LEMD3c.1782T= (p.Val594=)
c.1779T= (p.Val593=)
12g.65238676G>ACA6671043LEMD3c.1783G>A (p.Gly595Ser)
c.1780G>A (p.Gly594Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238676G>CCA385671072LEMD3c.1783G>C (p.Gly595Arg)
c.1780G>C (p.Gly594Arg)
 ClinVar
12g.65238676G=CA2042444465LEMD3c.1783G= (p.Gly595=)
c.1780G= (p.Gly594=)
12g.65238676G>TCA385671073LEMD3c.1783G>T (p.Gly595Cys)
c.1780G>T (p.Gly594Cys)
12g.65238677G>ACA385671074LEMD3c.1784G>A (p.Gly595Asp)
c.1781G>A (p.Gly594Asp)
12g.65238677G>CCA385671075LEMD3c.1784G>C (p.Gly595Ala)
c.1781G>C (p.Gly594Ala)
12g.65238677G>TCA385671076LEMD3c.1784G>T (p.Gly595Val)
c.1781G>T (p.Gly594Val)
12g.65238678T>ACA480666111LEMD3c.1785T>A (p.Gly595=)
c.1782T>A (p.Gly594=)
12g.65238678T>CCA480666112LEMD3c.1785T>C (p.Gly595=)
c.1782T>C (p.Gly594=)
12g.65238678T>GCA480666113LEMD3c.1785T>G (p.Gly595=)
c.1782T>G (p.Gly594=)
12g.65238678_65238679insGTGCA2796331407LEMD3c.1785_1786insGTG (p.Gly595_Phe596insVal)
c.1782_1783insGTG (p.Gly594_Phe595insVal)
12g.65238679T>ACA385671077LEMD3c.1786T>A (p.Phe596Ile)
c.1783T>A (p.Phe595Ile)
12g.65238679T>CCA385671078LEMD3c.1786T>C (p.Phe596Leu)
c.1783T>C (p.Phe595Leu)
12g.65238679T>GCA385671079LEMD3c.1786T>G (p.Phe596Val)
c.1783T>G (p.Phe595Val)
12g.65238680T>ACA385671082LEMD3c.1787T>A (p.Phe596Tyr)
c.1784T>A (p.Phe595Tyr)
12g.65238680T>CCA385671081LEMD3c.1787T>C (p.Phe596Ser)
c.1784T>C (p.Phe595Ser)
12g.65238680T>GCA385671080LEMD3c.1787T>G (p.Phe596Cys)
c.1784T>G (p.Phe595Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.65238680T=CA2042444468LEMD3c.1787T= (p.Phe596=)
c.1784T= (p.Phe595=)
12g.65238681T>ACA385671084LEMD3c.1788T>A (p.Phe596Leu)
c.1785T>A (p.Phe595Leu)
12g.65238681T>CCA480666115LEMD3c.1788T>C (p.Phe596=)
c.1785T>C (p.Phe595=)
12g.65238681T>GCA385671083LEMD3c.1788T>G (p.Phe596Leu)
c.1785T>G (p.Phe595Leu)
12g.65238682G>ACA385671085LEMD3c.1789G>A (p.Gly597Ser)
c.1786G>A (p.Gly596Ser)
12g.65238682G>CCA385671086LEMD3c.1789G>C (p.Gly597Arg)
c.1786G>C (p.Gly596Arg)
12g.65238682G>TCA385671087LEMD3c.1789G>T (p.Gly597Cys)
c.1786G>T (p.Gly596Cys)
12g.65238683G>ACA385671088LEMD3c.1790G>A (p.Gly597Asp)
c.1787G>A (p.Gly596Asp)
12g.65238683G>CCA385671089LEMD3c.1790G>C (p.Gly597Ala)
c.1787G>C (p.Gly596Ala)
12g.65238683G>TCA385671090LEMD3c.1790G>T (p.Gly597Val)
c.1787G>T (p.Gly596Val)
12g.65238684C>ACA480666116LEMD3c.1791C>A (p.Gly597=)
c.1788C>A (p.Gly596=)
12g.65238684C>GCA480666117LEMD3c.1791C>G (p.Gly597=)
c.1788C>G (p.Gly596=)
12g.65238684C>TCA480666118LEMD3c.1791C>T (p.Gly597=)
c.1788C>T (p.Gly596=)
 COSMIC
12g.65238685C>ACA385671091LEMD3c.1792C>A (p.Pro598Thr)
c.1789C>A (p.Pro597Thr)
12g.65238685C=CA2042444478LEMD3c.1792C= (p.Pro598=)
c.1789C= (p.Pro597=)
12g.65238685C>GCA385671092LEMD3c.1792C>G (p.Pro598Ala)
c.1789C>G (p.Pro597Ala)
12g.65238685C>TCA6671044LEMD3c.1792C>T (p.Pro598Ser)
c.1789C>T (p.Pro597Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238686C>ACA385671093LEMD3c.1793C>A (p.Pro598His)
c.1790C>A (p.Pro597His)
12g.65238686C>GCA385671094LEMD3c.1793C>G (p.Pro598Arg)
c.1790C>G (p.Pro597Arg)
 gnomAD v4
12g.65238686C>TCA385671095LEMD3c.1793C>T (p.Pro598Leu)
c.1790C>T (p.Pro597Leu)
 gnomAD v4
12g.65238687T>ACA480666119LEMD3c.1794T>A (p.Pro598=)
c.1791T>A (p.Pro597=)
12g.65238687T>CCA480666120LEMD3c.1794T>C (p.Pro598=)
c.1791T>C (p.Pro597=)
 gnomAD v4
12g.65238687T>GCA480666121LEMD3c.1794T>G (p.Pro598=)
c.1791T>G (p.Pro597=)
12g.65238688G>ACA385671098LEMD3c.1795G>A (p.Glu599Lys)
c.1792G>A (p.Glu598Lys)
 dbSNP gnomAD v4
12g.65238688G>CCA385671096LEMD3c.1795G>C (p.Glu599Gln)
c.1792G>C (p.Glu598Gln)
12g.65238688G=CA2042444481LEMD3c.1795G= (p.Glu599=)
c.1792G= (p.Glu598=)
12g.65238688G>TCA385671097LEMD3c.1795G>T (p.Glu599Ter)
c.1792G>T (p.Glu598Ter)
12g.65238689A>CCA385671099LEMD3c.1796A>C (p.Glu599Ala)
c.1793A>C (p.Glu598Ala)
12g.65238689A>GCA385671100LEMD3c.1796A>G (p.Glu599Gly)
c.1793A>G (p.Glu598Gly)
12g.65238689A>TCA385671101LEMD3c.1796A>T (p.Glu599Val)
c.1793A>T (p.Glu598Val)
12g.65238690G>ACA480666122LEMD3c.1797G>A (p.Glu599=)
c.1794G>A (p.Glu598=)
12g.65238690G>CCA385671102LEMD3c.1797G>C (p.Glu599Asp)
c.1794G>C (p.Glu598Asp)
12g.65238690G>TCA385671103LEMD3c.1797G>T (p.Glu599Asp)
c.1794G>T (p.Glu598Asp)
12g.65238691G>ACA385671104LEMD3c.1798G>A (p.Glu600Lys)
c.1795G>A (p.Glu599Lys)
12g.65238691G>CCA385671105LEMD3c.1798G>C (p.Glu600Gln)
c.1795G>C (p.Glu599Gln)
12g.65238691G>TCA385671106LEMD3c.1798G>T (p.Glu600Ter)
c.1795G>T (p.Glu599Ter)
12g.65238692A>CCA385671107LEMD3c.1799A>C (p.Glu600Ala)
c.1796A>C (p.Glu599Ala)
12g.65238692A>GCA385671108LEMD3c.1799A>G (p.Glu600Gly)
c.1796A>G (p.Glu599Gly)
12g.65238692A>TCA385671109LEMD3c.1799A>T (p.Glu600Val)
c.1796A>T (p.Glu599Val)
12g.65238693A>CCA385671110LEMD3c.1800A>C (p.Glu600Asp)
c.1797A>C (p.Glu599Asp)
12g.65238693A>GCA480666123LEMD3c.1800A>G (p.Glu600=)
c.1797A>G (p.Glu599=)
 gnomAD v4
12g.65238693A>TCA385671111LEMD3c.1800A>T (p.Glu600Asp)
c.1797A>T (p.Glu599Asp)
12g.65238694G>ACA385671114LEMD3c.1801G>A (p.Glu601Lys)
c.1798G>A (p.Glu600Lys)
12g.65238694G>CCA385671113LEMD3c.1801G>C (p.Glu601Gln)
c.1798G>C (p.Glu600Gln)
12g.65238694G=CA2042444484LEMD3c.1801G= (p.Glu601=)
c.1798G= (p.Glu600=)
12g.65238694G>TCA385671112LEMD3c.1801G>T (p.Glu601Ter)
c.1798G>T (p.Glu600Ter)
 ClinVar dbSNP gnomAD v4
12g.65238695A>CCA385671115LEMD3c.1802A>C (p.Glu601Ala)
c.1799A>C (p.Glu600Ala)
12g.65238695A>GCA385671116LEMD3c.1802A>G (p.Glu601Gly)
c.1799A>G (p.Glu600Gly)
12g.65238695A>TCA385671117LEMD3c.1802A>T (p.Glu601Val)
c.1799A>T (p.Glu600Val)
12g.65238696A>CCA385671118LEMD3c.1803A>C (p.Glu601Asp)
c.1800A>C (p.Glu600Asp)
12g.65238696A>GCA480666124LEMD3c.1803A>G (p.Glu601=)
c.1800A>G (p.Glu600=)
12g.65238696A>TCA385671119LEMD3c.1803A>T (p.Glu601Asp)
c.1800A>T (p.Glu600Asp)
 gnomAD v4
12g.65238697T>ACA385671120LEMD3c.1804T>A (p.Leu602Met)
c.1801T>A (p.Leu601Met)
12g.65238697T>CCA6671045LEMD3c.1804T>C (p.Leu602=)
c.1801T>C (p.Leu601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.65238697T>GCA385671121LEMD3c.1804T>G (p.Leu602Val)
c.1801T>G (p.Leu601Val)
12g.65238697T=CA2042444494LEMD3c.1804T= (p.Leu602=)
c.1801T= (p.Leu601=)
12g.65238698T>ACA385671122LEMD3c.1805T>A (p.Leu602Ter)
c.1802T>A (p.Leu601Ter)
12g.65238698T>CCA385671123LEMD3c.1805T>C (p.Leu602Ser)
c.1802T>C (p.Leu601Ser)
12g.65238698T>GCA385671124LEMD3c.1805T>G (p.Leu602Trp)
c.1802T>G (p.Leu601Trp)
12g.65238699G>ACA480666126LEMD3c.1806G>A (p.Leu602=)
c.1803G>A (p.Leu601=)
 gnomAD v4
12g.65238699G>CCA6671046LEMD3c.1806G>C (p.Leu602Phe)
c.1803G>C (p.Leu601Phe)
 dbSNP ExAC gnomAD v2
12g.65238699G=CA2042444500LEMD3c.1806G= (p.Leu602=)
c.1803G= (p.Leu601=)
12g.65238699G>TCA385671125LEMD3c.1806G>T (p.Leu602Phe)
c.1803G>T (p.Leu601Phe)
 gnomAD v4
12g.65238700A>CCA385671128LEMD3c.1807A>C (p.Thr603Pro)
c.1804A>C (p.Thr602Pro)
12g.65238700A>GCA385671127LEMD3c.1807A>G (p.Thr603Ala)
c.1804A>G (p.Thr602Ala)
12g.65238700A>TCA385671126LEMD3c.1807A>T (p.Thr603Ser)
c.1804A>T (p.Thr602Ser)
12g.65238701C>ACA385671129LEMD3c.1808C>A (p.Thr603Lys)
c.1805C>A (p.Thr602Lys)
12g.65238701C>GCA385671130LEMD3c.1808C>G (p.Thr603Arg)
c.1805C>G (p.Thr602Arg)
12g.65238701C>TCA385671131LEMD3c.1808C>T (p.Thr603Ile)
c.1805C>T (p.Thr602Ile)
12g.65238701_65238705delCA2573053752LEMD3c.1808_1812del (p.Thr603AsnfsTer3)
c.1805_1809del (p.Thr602AsnfsTer3)
 ClinVar dbSNP
12g.65238702A=CA2042444505LEMD3c.1809A= (p.Thr603=)
c.1806A= (p.Thr602=)
12g.65238702A>CCA480666127LEMD3c.1809A>C (p.Thr603=)
c.1806A>C (p.Thr602=)
 dbSNP gnomAD v4
12g.65238702A>GCA480666128LEMD3c.1809A>G (p.Thr603=)
c.1806A>G (p.Thr602=)
12g.65238702A>TCA480666129LEMD3c.1809A>T (p.Thr603=)
c.1806A>T (p.Thr602=)
12g.65238703A=CA2042444507LEMD3c.1810A= (p.Asn604=)
c.1807A= (p.Asn603=)
12g.65238703A>CCA385671132LEMD3c.1810A>C (p.Asn604His)
c.1807A>C (p.Asn603His)
12g.65238703A>GCA6671047LEMD3c.1810A>G (p.Asn604Asp)
c.1807A>G (p.Asn603Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238703A>TCA385671133LEMD3c.1810A>T (p.Asn604Tyr)
c.1807A>T (p.Asn603Tyr)
12g.65238704A>CCA385671134LEMD3c.1811A>C (p.Asn604Thr)
c.1808A>C (p.Asn603Thr)
 gnomAD v4
12g.65238704A>GCA385671135LEMD3c.1811A>G (p.Asn604Ser)
c.1808A>G (p.Asn603Ser)
12g.65238704A>TCA385671136LEMD3c.1811A>T (p.Asn604Ile)
c.1808A>T (p.Asn603Ile)
12g.65238705T>ACA385671137LEMD3c.1812T>A (p.Asn604Lys)
c.1809T>A (p.Asn603Lys)
12g.65238705T>CCA480666130LEMD3c.1812T>C (p.Asn604=)
c.1809T>C (p.Asn603=)
12g.65238705T>GCA385671138LEMD3c.1812T>G (p.Asn604Lys)
c.1809T>G (p.Asn603Lys)
12g.65238706A=CA2042444514LEMD3c.1813A= (p.Ile605=)
c.1810A= (p.Ile604=)
12g.65238706A>CCA385671139LEMD3c.1813A>C (p.Ile605Leu)
c.1810A>C (p.Ile604Leu)
12g.65238706A>GCA10643202LEMD3c.1813A>G (p.Ile605Val)
c.1810A>G (p.Ile604Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.65238706A>TCA385671140LEMD3c.1813A>T (p.Ile605Leu)
c.1810A>T (p.Ile604Leu)
12g.65238707T>ACA385671142LEMD3c.1814T>A (p.Ile605Lys)
c.1811T>A (p.Ile604Lys)
12g.65238707T>CCA6671048LEMD3c.1814T>C (p.Ile605Thr)
c.1811T>C (p.Ile604Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238707T>GCA385671141LEMD3c.1814T>G (p.Ile605Arg)
c.1811T>G (p.Ile604Arg)
 COSMIC
12g.65238707T=CA2042444519LEMD3c.1814T= (p.Ile605=)
c.1811T= (p.Ile604=)
12g.65238708A>CCA480666132LEMD3c.1815A>C (p.Ile605=)
c.1812A>C (p.Ile604=)
12g.65238708A>GCA385671143LEMD3c.1815A>G (p.Ile605Met)
c.1812A>G (p.Ile604Met)
12g.65238708A>TCA480666131LEMD3c.1815A>T (p.Ile605=)
c.1812A>T (p.Ile604=)
12g.65238709A>CCA385671144LEMD3c.1816A>C (p.Thr606Pro)
c.1813A>C (p.Thr605Pro)
12g.65238709A>GCA385671145LEMD3c.1816A>G (p.Thr606Ala)
c.1813A>G (p.Thr605Ala)
12g.65238709A>TCA385671146LEMD3c.1816A>T (p.Thr606Ser)
c.1813A>T (p.Thr605Ser)
12g.65238710C>ACA385671147LEMD3c.1817C>A (p.Thr606Asn)
c.1814C>A (p.Thr605Asn)
12g.65238710C>GCA385671148LEMD3c.1817C>G (p.Thr606Ser)
c.1814C>G (p.Thr605Ser)
12g.65238710C>TCA385671149LEMD3c.1817C>T (p.Thr606Ile)
c.1814C>T (p.Thr605Ile)
 gnomAD v4
12g.65238711T>ACA480666133LEMD3c.1818T>A (p.Thr606=)
c.1815T>A (p.Thr605=)
12g.65238711T>CCA6671049LEMD3c.1818T>C (p.Thr606=)
c.1815T>C (p.Thr605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238711T>GCA480666134LEMD3c.1818T>G (p.Thr606=)
c.1815T>G (p.Thr605=)
12g.65238711T=CA2042444522LEMD3c.1818T= (p.Thr606=)
c.1815T= (p.Thr605=)
12g.65238712G>ACA385671150LEMD3c.1819G>A (p.Asp607Asn)
c.1816G>A (p.Asp606Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.65238712G>CCA238915064LEMD3c.1819G>C (p.Asp607His)
c.1816G>C (p.Asp606His)
 dbSNP gnomAD v4
12g.65238712G=CA2042444525LEMD3c.1819G= (p.Asp607=)
c.1816G= (p.Asp606=)
12g.65238712G>TCA385671151LEMD3c.1819G>T (p.Asp607Tyr)
c.1816G>T (p.Asp606Tyr)
12g.65238713A>CCA385671152LEMD3c.1820A>C (p.Asp607Ala)
c.1817A>C (p.Asp606Ala)
12g.65238713A>GCA385671153LEMD3c.1820A>G (p.Asp607Gly)
c.1817A>G (p.Asp606Gly)
12g.65238713A>TCA385671154LEMD3c.1820A>T (p.Asp607Val)
c.1817A>T (p.Asp606Val)
12g.65238714T>ACA385671155LEMD3c.1821T>A (p.Asp607Glu)
c.1818T>A (p.Asp606Glu)
12g.65238714T>CCA480666135LEMD3c.1821T>C (p.Asp607=)
c.1818T>C (p.Asp606=)
 gnomAD v4
12g.65238714T>GCA385671156LEMD3c.1821T>G (p.Asp607Glu)
c.1818T>G (p.Asp606Glu)
 ClinVar dbSNP gnomAD v4
12g.65238714T=CA2042444530LEMD3c.1821T= (p.Asp607=)
c.1818T= (p.Asp606=)

Number of alleles fetched