Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
12g.65238715G>ACA385671157LEMD3c.1822G>A (p.Val608Met)
c.1819G>A (p.Val607Met)
 dbSNP gnomAD v2 gnomAD v4
12g.65238715G>CCA385671158LEMD3c.1822G>C (p.Val608Leu)
c.1819G>C (p.Val607Leu)
12g.65238715G=CA2042444532LEMD3c.1822G= (p.Val608=)
c.1819G= (p.Val607=)
12g.65238715G>TCA385671159LEMD3c.1822G>T (p.Val608Leu)
c.1819G>T (p.Val607Leu)
12g.65238716T>ACA385671160LEMD3c.1823T>A (p.Val608Glu)
c.1820T>A (p.Val607Glu)
12g.65238716T>CCA385671161LEMD3c.1823T>C (p.Val608Ala)
c.1820T>C (p.Val607Ala)
12g.65238716T>GCA385671162LEMD3c.1823T>G (p.Val608Gly)
c.1820T>G (p.Val607Gly)
12g.65238717G>ACA6671050LEMD3c.1824G>A (p.Val608=)
c.1821G>A (p.Val607=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238717G>CCA480666137LEMD3c.1824G>C (p.Val608=)
c.1821G>C (p.Val607=)
12g.65238717G=CA2042444538LEMD3c.1824G= (p.Val608=)
c.1821G= (p.Val607=)
12g.65238717G>TCA6671051LEMD3c.1824G>T (p.Val608=)
c.1821G>T (p.Val607=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238718C>ACA385671163LEMD3c.1825C>A (p.Gln609Lys)
c.1822C>A (p.Gln608Lys)
12g.65238718C>GCA385671164LEMD3c.1825C>G (p.Gln609Glu)
c.1822C>G (p.Gln608Glu)
12g.65238718C>TCA385671165LEMD3c.1825C>T (p.Gln609Ter)
c.1822C>T (p.Gln608Ter)
12g.65238719A=CA2042444554LEMD3c.1826A= (p.Gln609=)
c.1823A= (p.Gln608=)
12g.65238719A>CCA385671166LEMD3c.1826A>C (p.Gln609Pro)
c.1823A>C (p.Gln608Pro)
 dbSNP
12g.65238719A>GCA6671052LEMD3c.1826A>G (p.Gln609Arg)
c.1823A>G (p.Gln608Arg)
 dbSNP ExAC gnomAD v2
12g.65238719A>TCA385671167LEMD3c.1826A>T (p.Gln609Leu)
c.1823A>T (p.Gln608Leu)
12g.65238720G>ACA6671053LEMD3c.1827G>A (p.Gln609=)
c.1824G>A (p.Gln608=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238720G>CCA385671169LEMD3c.1827G>C (p.Gln609His)
c.1824G>C (p.Gln608His)
 gnomAD v4
12g.65238720G=CA2042444561LEMD3c.1827G= (p.Gln609=)
c.1824G= (p.Gln608=)
12g.65238720G>TCA385671168LEMD3c.1827G>T (p.Gln609His)
c.1824G>T (p.Gln608His)
12g.65238721T>ACA385671170LEMD3c.1828T>A (p.Phe610Ile)
c.1825T>A (p.Phe609Ile)
12g.65238721T>CCA385671171LEMD3c.1828T>C (p.Phe610Leu)
c.1825T>C (p.Phe609Leu)
12g.65238721T>GCA385671172LEMD3c.1828T>G (p.Phe610Val)
c.1825T>G (p.Phe609Val)
12g.65238722T>ACA385671173LEMD3c.1829T>A (p.Phe610Tyr)
c.1826T>A (p.Phe609Tyr)
12g.65238722T>CCA385671174LEMD3c.1829T>C (p.Phe610Ser)
c.1826T>C (p.Phe609Ser)
12g.65238722T>GCA385671175LEMD3c.1829T>G (p.Phe610Cys)
c.1826T>G (p.Phe609Cys)
12g.65238723T>ACA385671176LEMD3c.1830T>A (p.Phe610Leu)
c.1827T>A (p.Phe609Leu)
12g.65238723T>CCA480666138LEMD3c.1830T>C (p.Phe610=)
c.1827T>C (p.Phe609=)
12g.65238723T>GCA385671177LEMD3c.1830T>G (p.Phe610Leu)
c.1827T>G (p.Phe609Leu)
12g.65238724T>ACA385671178LEMD3c.1831T>A (p.Leu611Ile)
c.1828T>A (p.Leu610Ile)
12g.65238724T>CCA480666139LEMD3c.1831T>C (p.Leu611=)
c.1828T>C (p.Leu610=)
12g.65238724T>GCA385671179LEMD3c.1831T>G (p.Leu611Val)
c.1828T>G (p.Leu610Val)
 dbSNP
12g.65238724T=CA2042444564LEMD3c.1831T= (p.Leu611=)
c.1828T= (p.Leu610=)
12g.65238725T>ACA385671180LEMD3c.1832T>A (p.Leu611Ter)
c.1829T>A (p.Leu610Ter)
12g.65238725T>CCA385671181LEMD3c.1832T>C (p.Leu611Ser)
c.1829T>C (p.Leu610Ser)
12g.65238725T>GCA385671182LEMD3c.1832T>G (p.Leu611Ter)
c.1829T>G (p.Leu610Ter)
12g.65238726A>CCA385671183LEMD3c.1833A>C (p.Leu611Phe)
c.1830A>C (p.Leu610Phe)
12g.65238726A>GCA480666140LEMD3c.1833A>G (p.Leu611=)
c.1830A>G (p.Leu610=)
12g.65238726A>TCA385671184LEMD3c.1833A>T (p.Leu611Phe)
c.1830A>T (p.Leu610Phe)
12g.65238727C>ACA6671054LEMD3c.1834C>A (p.Gln612Lys)
c.1831C>A (p.Gln611Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238727C=CA2042444570LEMD3c.1834C= (p.Gln612=)
c.1831C= (p.Gln611=)
12g.65238727C>GCA385671185LEMD3c.1834C>G (p.Gln612Glu)
c.1831C>G (p.Gln611Glu)
12g.65238727C>TCA385671186LEMD3c.1834C>T (p.Gln612Ter)
c.1831C>T (p.Gln611Ter)
12g.65238728A>CCA385671187LEMD3c.1835A>C (p.Gln612Pro)
c.1832A>C (p.Gln611Pro)
12g.65238728A>GCA385671188LEMD3c.1835A>G (p.Gln612Arg)
c.1832A>G (p.Gln611Arg)
 gnomAD v4
12g.65238728A>TCA385671189LEMD3c.1835A>T (p.Gln612Leu)
c.1832A>T (p.Gln611Leu)
12g.65238729G>ACA480666141LEMD3c.1836G>A (p.Gln612=)
c.1833G>A (p.Gln611=)
12g.65238729G>CCA385671190LEMD3c.1836G>C (p.Gln612His)
c.1833G>C (p.Gln611His)
12g.65238729G>TCA385671191LEMD3c.1836G>T (p.Gln612His)
c.1833G>T (p.Gln611His)
12g.65238730T>ACA385671192LEMD3c.1837T>A (p.Ser613Thr)
c.1834T>A (p.Ser612Thr)
12g.65238730T>CCA385671193LEMD3c.1837T>C (p.Ser613Pro)
c.1834T>C (p.Ser612Pro)
12g.65238730T>GCA385671194LEMD3c.1837T>G (p.Ser613Ala)
c.1834T>G (p.Ser612Ala)
12g.65238731C>ACA238915065LEMD3c.1838C>A (p.Ser613Tyr)
c.1835C>A (p.Ser612Tyr)
 dbSNP
12g.65238731C=CA2042444577LEMD3c.1838C= (p.Ser613=)
c.1835C= (p.Ser612=)
12g.65238731C>GCA385671196LEMD3c.1838C>G (p.Ser613Cys)
c.1835C>G (p.Ser612Cys)
12g.65238731C>TCA385671195LEMD3c.1838C>T (p.Ser613Phe)
c.1835C>T (p.Ser612Phe)
12g.65238732C>ACA480666142LEMD3c.1839C>A (p.Ser613=)
c.1836C>A (p.Ser612=)
12g.65238732C>GCA480666144LEMD3c.1839C>G (p.Ser613=)
c.1836C>G (p.Ser612=)
12g.65238732C>TCA480666143LEMD3c.1839C>T (p.Ser613=)
c.1836C>T (p.Ser612=)
12g.65238733A>CCA385671199LEMD3c.1840A>C (p.Thr614Pro)
c.1837A>C (p.Thr613Pro)
12g.65238733A>GCA385671197LEMD3c.1840A>G (p.Thr614Ala)
c.1837A>G (p.Thr613Ala)
12g.65238733A>TCA385671198LEMD3c.1840A>T (p.Thr614Ser)
c.1837A>T (p.Thr613Ser)
12g.65238734C>ACA385671200LEMD3c.1841C>A (p.Thr614Lys)
c.1838C>A (p.Thr613Lys)
12g.65238734C>GCA385671201LEMD3c.1841C>G (p.Thr614Arg)
c.1838C>G (p.Thr613Arg)
12g.65238734C>TCA385671202LEMD3c.1841C>T (p.Thr614Ile)
c.1838C>T (p.Thr613Ile)
12g.65238735A>CCA480666145LEMD3c.1842A>C (p.Thr614=)
c.1839A>C (p.Thr613=)
12g.65238735A>GCA480666146LEMD3c.1842A>G (p.Thr614=)
c.1839A>G (p.Thr613=)
12g.65238735A>TCA480666147LEMD3c.1842A>T (p.Thr614=)
c.1839A>T (p.Thr613=)
12g.65238736A>CCA480666148LEMD3c.1843A>C (p.Arg615=)
c.1840A>C (p.Arg614=)
12g.65238736A>GCA385671203LEMD3c.1843A>G (p.Arg615Gly)
c.1840A>G (p.Arg614Gly)
12g.65238736A>TCA385671204LEMD3c.1843A>T (p.Arg615Ter)
c.1840A>T (p.Arg614Ter)
12g.65238737G>ACA385671205LEMD3c.1844G>A (p.Arg615Lys)
c.1841G>A (p.Arg614Lys)
12g.65238737G>CCA385671206LEMD3c.1844G>C (p.Arg615Thr)
c.1841G>C (p.Arg614Thr)
12g.65238737G>TCA385671207LEMD3c.1844G>T (p.Arg615Ile)
c.1841G>T (p.Arg614Ile)
12g.65238738A>CCA385671208LEMD3c.1845A>C (p.Arg615Ser)
c.1842A>C (p.Arg614Ser)
12g.65238738A>GCA480666149LEMD3c.1845A>G (p.Arg615=)
c.1842A>G (p.Arg614=)
12g.65238738A>TCA385671209LEMD3c.1845A>T (p.Arg615Ser)
c.1842A>T (p.Arg614Ser)
12g.65238739C>ACA385671212LEMD3c.1846C>A (p.Pro616Thr)
c.1843C>A (p.Pro615Thr)
12g.65238739C>GCA385671211LEMD3c.1846C>G (p.Pro616Ala)
c.1843C>G (p.Pro615Ala)
12g.65238739C>TCA385671210LEMD3c.1846C>T (p.Pro616Ser)
c.1843C>T (p.Pro615Ser)
12g.65238740C>ACA385671213LEMD3c.1847C>A (p.Pro616Gln)
c.1844C>A (p.Pro615Gln)
12g.65238740C=CA2042444585LEMD3c.1847C= (p.Pro616=)
c.1844C= (p.Pro615=)
12g.65238740C>GCA385671214LEMD3c.1847C>G (p.Pro616Arg)
c.1844C>G (p.Pro615Arg)
12g.65238740C>TCA385671215LEMD3c.1847C>T (p.Pro616Leu)
c.1844C>T (p.Pro615Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.65238741A=CA2042444588LEMD3c.1848A= (p.Pro616=)
c.1845A= (p.Pro615=)
12g.65238741A>CCA480666151LEMD3c.1848A>C (p.Pro616=)
c.1845A>C (p.Pro615=)
12g.65238741A>GCA6671055LEMD3c.1848A>G (p.Pro616=)
c.1845A>G (p.Pro615=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238741A>TCA480666150LEMD3c.1848A>T (p.Pro616=)
c.1845A>T (p.Pro615=)
 dbSNP gnomAD v2 gnomAD v4
12g.65238742C>ACA385671216LEMD3c.1849C>A (p.Leu617Met)
c.1846C>A (p.Leu616Met)
12g.65238742C=CA2042444592LEMD3c.1849C= (p.Leu617=)
c.1846C= (p.Leu616=)
12g.65238742C>GCA385671217LEMD3c.1849C>G (p.Leu617Val)
c.1846C>G (p.Leu616Val)
 COSMIC
12g.65238742C>TCA480666152LEMD3c.1849C>T (p.Leu617=)
c.1846C>T (p.Leu616=)
 dbSNP
12g.65238743T>ACA385671218LEMD3c.1850T>A (p.Leu617Gln)
c.1847T>A (p.Leu616Gln)
12g.65238743T>CCA385671219LEMD3c.1850T>C (p.Leu617Pro)
c.1847T>C (p.Leu616Pro)
 gnomAD v4
12g.65238743T>GCA385671220LEMD3c.1850T>G (p.Leu617Arg)
c.1847T>G (p.Leu616Arg)
12g.65238744G>ACA480666153LEMD3c.1851G>A (p.Leu617=)
c.1848G>A (p.Leu616=)
 gnomAD v4
12g.65238744G>CCA6671056LEMD3c.1851G>C (p.Leu617=)
c.1848G>C (p.Leu616=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238744G=CA2042444595LEMD3c.1851G= (p.Leu617=)
c.1848G= (p.Leu616=)
12g.65238744G>TCA480666154LEMD3c.1851G>T (p.Leu617=)
c.1848G>T (p.Leu616=)
12g.65238745A>CCA385671221LEMD3c.1852A>C (p.Met618Leu)
c.1849A>C (p.Met617Leu)
12g.65238745A>GCA385671222LEMD3c.1852A>G (p.Met618Val)
c.1849A>G (p.Met617Val)
12g.65238745A>TCA385671223LEMD3c.1852A>T (p.Met618Leu)
c.1849A>T (p.Met617Leu)
 gnomAD v4
12g.65238745_65238746delCA2796331408LEMD3c.1852_1853del (p.Met618ValfsTer?)
c.1849_1850del (p.Met617ValfsTer?)
12g.65238746T>ACA385671225LEMD3c.1853T>A (p.Met618Lys)
c.1850T>A (p.Met617Lys)
12g.65238746T>CCA385671226LEMD3c.1853T>C (p.Met618Thr)
c.1850T>C (p.Met617Thr)
 ClinVar
12g.65238746T>GCA385671224LEMD3c.1853T>G (p.Met618Arg)
c.1850T>G (p.Met617Arg)
12g.65238747G>ACA385671227LEMD3c.1854G>A (p.Met618Ile)
c.1851G>A (p.Met617Ile)
12g.65238747G>CCA385671229LEMD3c.1854G>C (p.Met618Ile)
c.1851G>C (p.Met617Ile)
12g.65238747G>TCA385671228LEMD3c.1854G>T (p.Met618Ile)
c.1851G>T (p.Met617Ile)
12g.65238748T>ACA385671230LEMD3c.1855T>A (p.Ser619Thr)
c.1852T>A (p.Ser618Thr)
12g.65238748T>CCA385671231LEMD3c.1855T>C (p.Ser619Pro)
c.1852T>C (p.Ser618Pro)
12g.65238748T>GCA385671232LEMD3c.1855T>G (p.Ser619Ala)
c.1852T>G (p.Ser618Ala)
12g.65238749C>ACA385671233LEMD3c.1856C>A (p.Ser619Tyr)
c.1853C>A (p.Ser618Tyr)
12g.65238749C>GCA385671234LEMD3c.1856C>G (p.Ser619Cys)
c.1853C>G (p.Ser618Cys)
 gnomAD v4
12g.65238749C>TCA385671235LEMD3c.1856C>T (p.Ser619Phe)
c.1853C>T (p.Ser618Phe)
12g.65238750T>ACA480666155LEMD3c.1857T>A (p.Ser619=)
c.1854T>A (p.Ser618=)
12g.65238750T>CCA480666156LEMD3c.1857T>C (p.Ser619=)
c.1854T>C (p.Ser618=)
12g.65238750T>GCA480666157LEMD3c.1857T>G (p.Ser619=)
c.1854T>G (p.Ser618=)
12g.65238754dupCA2619669454LEMD3c.1861dup (p.Trp621LeufsTer?)
c.1858dup (p.Trp620LeufsTer?)
 gnomAD v4
12g.65238751T>ACA385671236LEMD3c.1858T>A (p.Phe620Ile)
c.1855T>A (p.Phe619Ile)
12g.65238751T>CCA385671237LEMD3c.1858T>C (p.Phe620Leu)
c.1855T>C (p.Phe619Leu)
12g.65238751T>GCA385671238LEMD3c.1858T>G (p.Phe620Val)
c.1855T>G (p.Phe619Val)
12g.65238752T>ACA385671239LEMD3c.1859T>A (p.Phe620Tyr)
c.1856T>A (p.Phe619Tyr)
12g.65238752T>CCA385671240LEMD3c.1859T>C (p.Phe620Ser)
c.1856T>C (p.Phe619Ser)
 dbSNP
12g.65238752T>GCA385671241LEMD3c.1859T>G (p.Phe620Cys)
c.1856T>G (p.Phe619Cys)
12g.65238752T=CA2042444602LEMD3c.1859T= (p.Phe620=)
c.1856T= (p.Phe619=)
12g.65238753T>ACA385671242LEMD3c.1860T>A (p.Phe620Leu)
c.1857T>A (p.Phe619Leu)
12g.65238753T>CCA6671057LEMD3c.1860T>C (p.Phe620=)
c.1857T>C (p.Phe619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238753T>GCA385671243LEMD3c.1860T>G (p.Phe620Leu)
c.1857T>G (p.Phe619Leu)
12g.65238753T=CA2042444609LEMD3c.1860T= (p.Phe620=)
c.1857T= (p.Phe619=)
12g.65238754T>ACA385671244LEMD3c.1861T>A (p.Trp621Arg)
c.1858T>A (p.Trp620Arg)
12g.65238754T>CCA385671245LEMD3c.1861T>C (p.Trp621Arg)
c.1858T>C (p.Trp620Arg)
12g.65238754T>GCA385671246LEMD3c.1861T>G (p.Trp621Gly)
c.1858T>G (p.Trp620Gly)
12g.65238755G>ACA385671247LEMD3c.1862G>A (p.Trp621Ter)
c.1859G>A (p.Trp620Ter)
12g.65238755G>CCA385671248LEMD3c.1862G>C (p.Trp621Ser)
c.1859G>C (p.Trp620Ser)
12g.65238755G>TCA385671249LEMD3c.1862G>T (p.Trp621Leu)
c.1859G>T (p.Trp620Leu)
12g.65238756G>ACA385671250LEMD3c.1863G>A (p.Trp621Ter)
c.1860G>A (p.Trp620Ter)
12g.65238756G>CCA385671251LEMD3c.1863G>C (p.Trp621Cys)
c.1860G>C (p.Trp620Cys)
12g.65238756G=CA2042444613LEMD3c.1863G= (p.Trp621=)
c.1860G= (p.Trp620=)
12g.65238756G>TCA385671252LEMD3c.1863G>T (p.Trp621Cys)
c.1860G>T (p.Trp620Cys)
 dbSNP gnomAD v4
12g.65238757T>ACA385671254LEMD3c.1864T>A (p.Cys622Ser)
c.1861T>A (p.Cys621Ser)
12g.65238757T>CCA385671255LEMD3c.1864T>C (p.Cys622Arg)
c.1861T>C (p.Cys621Arg)
12g.65238757T>GCA385671253LEMD3c.1864T>G (p.Cys622Gly)
c.1861T>G (p.Cys621Gly)
12g.65238758G>ACA385671256LEMD3c.1865G>A (p.Cys622Tyr)
c.1862G>A (p.Cys621Tyr)
12g.65238758G>CCA385671257LEMD3c.1865G>C (p.Cys622Ser)
c.1862G>C (p.Cys621Ser)
12g.65238758G>TCA385671258LEMD3c.1865G>T (p.Cys622Phe)
c.1862G>T (p.Cys621Phe)
12g.65238759T>ACA385671259LEMD3c.1866T>A (p.Cys622Ter)
c.1863T>A (p.Cys621Ter)
12g.65238759T>CCA480666158LEMD3c.1866T>C (p.Cys622=)
c.1863T>C (p.Cys621=)
12g.65238759T>GCA385671260LEMD3c.1866T>G (p.Cys622Trp)
c.1863T>G (p.Cys621Trp)
12g.65238760C>ACA385671262LEMD3c.1867C>A (p.Arg623Ser)
c.1864C>A (p.Arg622Ser)
12g.65238760C=CA2042444619LEMD3c.1867C= (p.Arg623=)
c.1864C= (p.Arg622=)
12g.65238760C>GCA385671261LEMD3c.1867C>G (p.Arg623Gly)
c.1864C>G (p.Arg622Gly)
12g.65238760C>TCA238915066LEMD3c.1867C>T (p.Arg623Cys)
c.1864C>T (p.Arg622Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.65238761G>ACA6671058LEMD3c.1868G>A (p.Arg623His)
c.1865G>A (p.Arg622His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238761G>CCA385671263LEMD3c.1868G>C (p.Arg623Pro)
c.1865G>C (p.Arg622Pro)
12g.65238761G=CA2042444626LEMD3c.1868G= (p.Arg623=)
c.1865G= (p.Arg622=)
12g.65238761G>TCA385671264LEMD3c.1868G>T (p.Arg623Leu)
c.1865G>T (p.Arg622Leu)
12g.65238762T>ACA480666161LEMD3c.1869T>A (p.Arg623=)
c.1866T>A (p.Arg622=)
12g.65238762T>CCA480666159LEMD3c.1869T>C (p.Arg623=)
c.1866T>C (p.Arg622=)
 gnomAD v4
12g.65238762T>GCA480666160LEMD3c.1869T>G (p.Arg623=)
c.1866T>G (p.Arg622=)
12g.65238763T>ACA385671265LEMD3c.1870T>A (p.Phe624Ile)
c.1867T>A (p.Phe623Ile)
12g.65238763T>CCA385671266LEMD3c.1870T>C (p.Phe624Leu)
c.1867T>C (p.Phe623Leu)
12g.65238763T>GCA385671267LEMD3c.1870T>G (p.Phe624Val)
c.1867T>G (p.Phe623Val)
12g.65238764T>ACA385671268LEMD3c.1871T>A (p.Phe624Tyr)
c.1868T>A (p.Phe623Tyr)
12g.65238764T>CCA385671270LEMD3c.1871T>C (p.Phe624Ser)
c.1868T>C (p.Phe623Ser)
12g.65238764T>GCA385671269LEMD3c.1871T>G (p.Phe624Cys)
c.1868T>G (p.Phe623Cys)
12g.65238765T>ACA385671271LEMD3c.1872T>A (p.Phe624Leu)
c.1869T>A (p.Phe623Leu)
12g.65238765T>CCA480666162LEMD3c.1872T>C (p.Phe624=)
c.1869T>C (p.Phe623=)
12g.65238765T>GCA385671272LEMD3c.1872T>G (p.Phe624Leu)
c.1869T>G (p.Phe623Leu)
12g.65238766C>ACA6671060LEMD3c.1873C>A (p.Arg625=)
c.1870C>A (p.Arg624=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238766C=CA2042444641LEMD3c.1873C= (p.Arg625=)
c.1870C= (p.Arg624=)
12g.65238766C>GCA385671273LEMD3c.1873C>G (p.Arg625Gly)
c.1870C>G (p.Arg624Gly)
12g.65238766C>TCA6671059LEMD3c.1873C>T (p.Arg625Ter)
c.1870C>T (p.Arg624Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.65238767G>ACA6671061LEMD3c.1874G>A (p.Arg625Gln)
c.1871G>A (p.Arg624Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238767G>CCA385671274LEMD3c.1874G>C (p.Arg625Pro)
c.1871G>C (p.Arg624Pro)
12g.65238767G=CA2042444645LEMD3c.1874G= (p.Arg625=)
c.1871G= (p.Arg624=)
12g.65238767G>TCA385671275LEMD3c.1874G>T (p.Arg625Leu)
c.1871G>T (p.Arg624Leu)
12g.65238768A>CCA480666164LEMD3c.1875A>C (p.Arg625=)
c.1872A>C (p.Arg624=)
12g.65238768A>GCA480666165LEMD3c.1875A>G (p.Arg625=)
c.1872A>G (p.Arg624=)
12g.65238768A>TCA480666166LEMD3c.1875A>T (p.Arg625=)
c.1872A>T (p.Arg624=)
12g.65238769C>ACA385671276LEMD3c.1876C>A (p.Arg626Ser)
c.1873C>A (p.Arg625Ser)
12g.65238769C=CA2042444648LEMD3c.1876C= (p.Arg626=)
c.1873C= (p.Arg625=)
12g.65238769C>GCA385671277LEMD3c.1876C>G (p.Arg626Gly)
c.1873C>G (p.Arg625Gly)
12g.65238769C>TCA385671278LEMD3c.1876C>T (p.Arg626Cys)
c.1873C>T (p.Arg625Cys)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched