Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.65238478_65238538dupCA6671015LEMD3c.1696-24_1732dup
c.1693-24_1729dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238511C>ACA385670886LEMD3c.1705C>A (p.Pro569Thr)
c.1702C>A (p.Pro568Thr)
 gnomAD v4
12g.65238511C=CA2042444204LEMD3c.1705C= (p.Pro569=)
c.1702C= (p.Pro568=)
12g.65238511C>GCA385670885LEMD3c.1705C>G (p.Pro569Ala)
c.1702C>G (p.Pro568Ala)
12g.65238511C>TCA6671020LEMD3c.1705C>T (p.Pro569Ser)
c.1702C>T (p.Pro568Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238512C>ACA385670887LEMD3c.1706C>A (p.Pro569His)
c.1703C>A (p.Pro568His)
 gnomAD v4 COSMIC
12g.65238512C=CA2042444211LEMD3c.1706C= (p.Pro569=)
c.1703C= (p.Pro568=)
12g.65238512C>GCA385670889LEMD3c.1706C>G (p.Pro569Arg)
c.1703C>G (p.Pro568Arg)
12g.65238512C>TCA385670888LEMD3c.1706C>T (p.Pro569Leu)
c.1703C>T (p.Pro568Leu)
 dbSNP
12g.65238513T>ACA480666069LEMD3c.1707T>A (p.Pro569=)
c.1704T>A (p.Pro568=)
12g.65238513T>CCA480666067LEMD3c.1707T>C (p.Pro569=)
c.1704T>C (p.Pro568=)
 gnomAD v4
12g.65238513T>GCA480666068LEMD3c.1707T>G (p.Pro569=)
c.1704T>G (p.Pro568=)
12g.65238514G>ACA385670890LEMD3c.1708G>A (p.Glu570Lys)
c.1705G>A (p.Glu569Lys)
12g.65238514G>CCA385670891LEMD3c.1708G>C (p.Glu570Gln)
c.1705G>C (p.Glu569Gln)
12g.65238514G>TCA385670892LEMD3c.1708G>T (p.Glu570Ter)
c.1705G>T (p.Glu569Ter)
 gnomAD v4
12g.65238515A>CCA385670893LEMD3c.1709A>C (p.Glu570Ala)
c.1706A>C (p.Glu569Ala)
12g.65238515A>GCA385670894LEMD3c.1709A>G (p.Glu570Gly)
c.1706A>G (p.Glu569Gly)
12g.65238515A>TCA385670895LEMD3c.1709A>T (p.Glu570Val)
c.1706A>T (p.Glu569Val)
12g.65238516A>CCA385670896LEMD3c.1710A>C (p.Glu570Asp)
c.1707A>C (p.Glu569Asp)
12g.65238516A>GCA480666070LEMD3c.1710A>G (p.Glu570=)
c.1707A>G (p.Glu569=)
 gnomAD v4
12g.65238516A>TCA385670897LEMD3c.1710A>T (p.Glu570Asp)
c.1707A>T (p.Glu569Asp)
12g.65238517T>ACA385670898LEMD3c.1711T>A (p.Tyr571Asn)
c.1708T>A (p.Tyr570Asn)
12g.65238517T>CCA385670899LEMD3c.1711T>C (p.Tyr571His)
c.1708T>C (p.Tyr570His)
 gnomAD v4
12g.65238517T>GCA385670900LEMD3c.1711T>G (p.Tyr571Asp)
c.1708T>G (p.Tyr570Asp)
12g.65238518A>CCA385670903LEMD3c.1712A>C (p.Tyr571Ser)
c.1709A>C (p.Tyr570Ser)
12g.65238518A>GCA385670901LEMD3c.1712A>G (p.Tyr571Cys)
c.1709A>G (p.Tyr570Cys)
12g.65238518A>TCA385670902LEMD3c.1712A>T (p.Tyr571Phe)
c.1709A>T (p.Tyr570Phe)
12g.65238519T>ACA385670904LEMD3c.1713T>A (p.Tyr571Ter)
c.1710T>A (p.Tyr570Ter)
12g.65238519T>CCA480666071LEMD3c.1713T>C (p.Tyr571=)
c.1710T>C (p.Tyr570=)
12g.65238519T>GCA385670905LEMD3c.1713T>G (p.Tyr571Ter)
c.1710T>G (p.Tyr570Ter)
12g.65238520G>ACA385670906LEMD3c.1714G>A (p.Glu572Lys)
c.1711G>A (p.Glu571Lys)
12g.65238520G>CCA385670907LEMD3c.1714G>C (p.Glu572Gln)
c.1711G>C (p.Glu571Gln)
12g.65238520G>TCA385670908LEMD3c.1714G>T (p.Glu572Ter)
c.1711G>T (p.Glu571Ter)
 gnomAD v4
12g.65238521A>CCA385670909LEMD3c.1715A>C (p.Glu572Ala)
c.1712A>C (p.Glu571Ala)
12g.65238521A>GCA385670910LEMD3c.1715A>G (p.Glu572Gly)
c.1712A>G (p.Glu571Gly)
12g.65238521A>TCA385670911LEMD3c.1715A>T (p.Glu572Val)
c.1712A>T (p.Glu571Val)
12g.65238522A>CCA385670912LEMD3c.1716A>C (p.Glu572Asp)
c.1713A>C (p.Glu571Asp)
12g.65238522A>GCA480666072LEMD3c.1716A>G (p.Glu572=)
c.1713A>G (p.Glu571=)
12g.65238522A>TCA385670913LEMD3c.1716A>T (p.Glu572Asp)
c.1713A>T (p.Glu571Asp)
12g.65238523G>ACA385670915LEMD3c.1717G>A (p.Gly573Ser)
c.1714G>A (p.Gly572Ser)
12g.65238523G>CCA385670916LEMD3c.1717G>C (p.Gly573Arg)
c.1714G>C (p.Gly572Arg)
12g.65238523G>TCA385670914LEMD3c.1717G>T (p.Gly573Cys)
c.1714G>T (p.Gly572Cys)
12g.65238524G>ACA238915058LEMD3c.1718G>A (p.Gly573Asp)
c.1715G>A (p.Gly572Asp)
 dbSNP gnomAD v4
12g.65238524G>CCA385670917LEMD3c.1718G>C (p.Gly573Ala)
c.1715G>C (p.Gly572Ala)
12g.65238524G=CA2042444215LEMD3c.1718G= (p.Gly573=)
c.1715G= (p.Gly572=)
12g.65238524G>TCA385670918LEMD3c.1718G>T (p.Gly573Val)
c.1715G>T (p.Gly572Val)
12g.65238525T>ACA480666073LEMD3c.1719T>A (p.Gly573=)
c.1716T>A (p.Gly572=)
12g.65238525T>CCA480666074LEMD3c.1719T>C (p.Gly573=)
c.1716T>C (p.Gly572=)
12g.65238525T>GCA480666075LEMD3c.1719T>G (p.Gly573=)
c.1716T>G (p.Gly572=)
12g.65238526A=CA2042444220LEMD3c.1720A= (p.Ile574=)
c.1717A= (p.Ile573=)
12g.65238526A>CCA385670919LEMD3c.1720A>C (p.Ile574Leu)
c.1717A>C (p.Ile573Leu)
12g.65238526A>GCA6671021LEMD3c.1720A>G (p.Ile574Val)
c.1717A>G (p.Ile573Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238526A>TCA385670920LEMD3c.1720A>T (p.Ile574Leu)
c.1717A>T (p.Ile573Leu)
12g.65238527T>ACA385670921LEMD3c.1721T>A (p.Ile574Lys)
c.1718T>A (p.Ile573Lys)
12g.65238527T>CCA385670922LEMD3c.1721T>C (p.Ile574Thr)
c.1718T>C (p.Ile573Thr)
 gnomAD v4
12g.65238527T>GCA385670923LEMD3c.1721T>G (p.Ile574Arg)
c.1718T>G (p.Ile573Arg)
12g.65238528A=CA2042444229LEMD3c.1722A= (p.Ile574=)
c.1719A= (p.Ile573=)
12g.65238528A>CCA480666076LEMD3c.1722A>C (p.Ile574=)
c.1719A>C (p.Ile573=)
12g.65238528A>GCA6671022LEMD3c.1722A>G (p.Ile574Met)
c.1719A>G (p.Ile573Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238528A>TCA480666077LEMD3c.1722A>T (p.Ile574=)
c.1719A>T (p.Ile573=)
12g.65238529T>ACA385670924LEMD3c.1723T>A (p.Phe575Ile)
c.1720T>A (p.Phe574Ile)
12g.65238529T>CCA385670925LEMD3c.1723T>C (p.Phe575Leu)
c.1720T>C (p.Phe574Leu)
12g.65238529T>GCA385670926LEMD3c.1723T>G (p.Phe575Val)
c.1720T>G (p.Phe574Val)
12g.65238530T>ACA385670929LEMD3c.1724T>A (p.Phe575Tyr)
c.1721T>A (p.Phe574Tyr)
12g.65238530T>CCA385670928LEMD3c.1724T>C (p.Phe575Ser)
c.1721T>C (p.Phe574Ser)
12g.65238530T>GCA385670927LEMD3c.1724T>G (p.Phe575Cys)
c.1721T>G (p.Phe574Cys)
12g.65238531T>ACA385670930LEMD3c.1725T>A (p.Phe575Leu)
c.1722T>A (p.Phe574Leu)
12g.65238531T>CCA480666078LEMD3c.1725T>C (p.Phe575=)
c.1722T>C (p.Phe574=)
12g.65238531T>GCA385670931LEMD3c.1725T>G (p.Phe575Leu)
c.1722T>G (p.Phe574Leu)
12g.65238532A>CCA385670932LEMD3c.1726A>C (p.Asn576His)
c.1723A>C (p.Asn575His)
12g.65238532A>GCA385670933LEMD3c.1726A>G (p.Asn576Asp)
c.1723A>G (p.Asn575Asp)
 gnomAD v4
12g.65238532A>TCA385670934LEMD3c.1726A>T (p.Asn576Tyr)
c.1723A>T (p.Asn575Tyr)
12g.65238533A>CCA385670935LEMD3c.1727A>C (p.Asn576Thr)
c.1724A>C (p.Asn575Thr)
12g.65238533A>GCA385670936LEMD3c.1727A>G (p.Asn576Ser)
c.1724A>G (p.Asn575Ser)
12g.65238533A>TCA385670937LEMD3c.1727A>T (p.Asn576Ile)
c.1724A>T (p.Asn575Ile)
12g.65238534C>ACA6671023LEMD3c.1728C>A (p.Asn576Lys)
c.1725C>A (p.Asn575Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238534C=CA2042444234LEMD3c.1728C= (p.Asn576=)
c.1725C= (p.Asn575=)
12g.65238534C>GCA385670938LEMD3c.1728C>G (p.Asn576Lys)
c.1725C>G (p.Asn575Lys)
12g.65238534C>TCA480666079LEMD3c.1728C>T (p.Asn576=)
c.1725C>T (p.Asn575=)
12g.65238535A=CA2042444239LEMD3c.1729A= (p.Thr577=)
c.1726A= (p.Thr576=)
12g.65238535A>CCA385670939LEMD3c.1729A>C (p.Thr577Pro)
c.1726A>C (p.Thr576Pro)
12g.65238535A>GCA385670940LEMD3c.1729A>G (p.Thr577Ala)
c.1726A>G (p.Thr576Ala)
 ClinVar dbSNP gnomAD v4
12g.65238535A>TCA6671024LEMD3c.1729A>T (p.Thr577Ser)
c.1726A>T (p.Thr576Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238536C>ACA385670942LEMD3c.1730C>A (p.Thr577Asn)
c.1727C>A (p.Thr576Asn)
12g.65238536C>GCA385670943LEMD3c.1730C>G (p.Thr577Ser)
c.1727C>G (p.Thr576Ser)
12g.65238536C>TCA385670941LEMD3c.1730C>T (p.Thr577Ile)
c.1727C>T (p.Thr576Ile)
12g.65238537T>ACA480666080LEMD3c.1731T>A (p.Thr577=)
c.1728T>A (p.Thr576=)
12g.65238537T>CCA480666081LEMD3c.1731T>C (p.Thr577=)
c.1728T>C (p.Thr576=)
 dbSNP gnomAD v3 gnomAD v4
12g.65238537T>GCA480666082LEMD3c.1731T>G (p.Thr577=)
c.1728T>G (p.Thr576=)
12g.65238537T=CA2042444243LEMD3c.1731T= (p.Thr577=)
c.1728T= (p.Thr576=)
12g.65238538_65238539insATTTTTCA2619669434LEMD3c.1732_1733insATTTTT (p.Thr577_Ser578insTyrPhe)
c.1729_1730insATTTTT (p.Thr576_Ser577insTyrPhe)
 gnomAD v4
12g.65238538T>ACA385670944LEMD3c.1732T>A (p.Ser578Thr)
c.1729T>A (p.Ser577Thr)
12g.65238538T>CCA385670945LEMD3c.1732T>C (p.Ser578Pro)
c.1729T>C (p.Ser577Pro)
12g.65238538T>GCA6671025LEMD3c.1732T>G (p.Ser578Ala)
c.1729T>G (p.Ser577Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238538T=CA2042444246LEMD3c.1732T= (p.Ser578=)
c.1729T= (p.Ser577=)
12g.65238538_65238539insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGTCA2619669435LEMD3c.1732_1733insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr577_Ser578insTyrPheSerLeuPhePheLeuLeuGlyPheArg)
c.1729_1730insATTTTTCTCTATTTTTCTTGTTAGGATTTAGGT (p.Thr576_Ser577insTyrPheSerLeuPhePheLeuLeuGlyPheArg)
 gnomAD v4
12g.65238539C>ACA385670946LEMD3c.1733C>A (p.Ser578Ter)
c.1730C>A (p.Ser577Ter)
 gnomAD v4
12g.65238539C=CA2042444255LEMD3c.1733C= (p.Ser578=)
c.1730C= (p.Ser577=)
12g.65238539C>GCA385670947LEMD3c.1733C>G (p.Ser578Ter)
c.1730C>G (p.Ser577Ter)
12g.65238539C>TCA385670948LEMD3c.1733C>T (p.Ser578Leu)
c.1730C>T (p.Ser577Leu)
 dbSNP
12g.65238539_65238540insTCTATTTTTCTTGTTAGGATTTAGGTCCTGACA2619669436LEMD3c.1733_1734insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln580PhefsTer9)
c.1730_1731insTCTATTTTTCTTGTTAGGATTTAGGTCCTGA (p.Gln579PhefsTer9)
 gnomAD v4
12g.65238540A=CA2042444259LEMD3c.1734A= (p.Ser578=)
c.1731A= (p.Ser577=)
12g.65238540A>CCA480666083LEMD3c.1734A>C (p.Ser578=)
c.1731A>C (p.Ser577=)
 dbSNP gnomAD v4
12g.65238540A>GCA480666085LEMD3c.1734A>G (p.Ser578=)
c.1731A>G (p.Ser577=)
12g.65238540A>TCA480666084LEMD3c.1734A>T (p.Ser578=)
c.1731A>T (p.Ser577=)
12g.65238541T>ACA385670950LEMD3c.1735T>A (p.Leu579Met)
c.1732T>A (p.Leu578Met)
12g.65238541T>CCA6671026LEMD3c.1735T>C (p.Leu579=)
c.1732T>C (p.Leu578=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238541T>GCA385670949LEMD3c.1735T>G (p.Leu579Val)
c.1732T>G (p.Leu578Val)
12g.65238541T=CA2042444263LEMD3c.1735T= (p.Leu579=)
c.1732T= (p.Leu578=)
12g.65238542T>ACA385670951LEMD3c.1736T>A (p.Leu579Ter)
c.1733T>A (p.Leu578Ter)
12g.65238542T>CCA385670952LEMD3c.1736T>C (p.Leu579Ser)
c.1733T>C (p.Leu578Ser)
12g.65238542T>GCA385670953LEMD3c.1736T>G (p.Leu579Trp)
c.1733T>G (p.Leu578Trp)
12g.65238543G>ACA480666086LEMD3c.1737G>A (p.Leu579=)
c.1734G>A (p.Leu578=)
12g.65238543G>CCA385670954LEMD3c.1737G>C (p.Leu579Phe)
c.1734G>C (p.Leu578Phe)
12g.65238543G>TCA385670955LEMD3c.1737G>T (p.Leu579Phe)
c.1734G>T (p.Leu578Phe)
 COSMIC
12g.65238544C>ACA385670958LEMD3c.1738C>A (p.Gln580Lys)
c.1735C>A (p.Gln579Lys)
12g.65238544C>GCA385670956LEMD3c.1738C>G (p.Gln580Glu)
c.1735C>G (p.Gln579Glu)
12g.65238544C>TCA385670957LEMD3c.1738C>T (p.Gln580Ter)
c.1735C>T (p.Gln579Ter)
12g.65238545A>CCA385670959LEMD3c.1739A>C (p.Gln580Pro)
c.1736A>C (p.Gln579Pro)
12g.65238545A>GCA385670960LEMD3c.1739A>G (p.Gln580Arg)
c.1736A>G (p.Gln579Arg)
 dbSNP
12g.65238545A>TCA385670961LEMD3c.1739A>T (p.Gln580Leu)
c.1736A>T (p.Gln579Leu)
12g.65238546G>ACA480666087LEMD3c.1740G>A (p.Gln580=)
c.1737G>A (p.Gln579=)
12g.65238546G>CCA385670962LEMD3c.1740G>C (p.Gln580His)
c.1737G>C (p.Gln579His)
12g.65238546G>TCA385670963LEMD3c.1740G>T (p.Gln580His)
c.1737G>T (p.Gln579His)
12g.65238547T>ACA385670966LEMD3c.1741T>A (p.Trp581Arg)
c.1738T>A (p.Trp580Arg)
12g.65238547T>CCA385670965LEMD3c.1741T>C (p.Trp581Arg)
c.1738T>C (p.Trp580Arg)
12g.65238547T>GCA385670964LEMD3c.1741T>G (p.Trp581Gly)
c.1738T>G (p.Trp580Gly)
12g.65238548G>ACA385670967LEMD3c.1742G>A (p.Trp581Ter)
c.1739G>A (p.Trp580Ter)
12g.65238548G>CCA385670968LEMD3c.1742G>C (p.Trp581Ser)
c.1739G>C (p.Trp580Ser)
12g.65238548G>TCA385670969LEMD3c.1742G>T (p.Trp581Leu)
c.1739G>T (p.Trp580Leu)
12g.65238549G>ACA385670970LEMD3c.1743G>A (p.Trp581Ter)
c.1740G>A (p.Trp580Ter)
12g.65238549G>CCA385670971LEMD3c.1743G>C (p.Trp581Cys)
c.1740G>C (p.Trp580Cys)
12g.65238549G>TCA385670972LEMD3c.1743G>T (p.Trp581Cys)
c.1740G>T (p.Trp580Cys)
 gnomAD v4
12g.65238550A=CA2042444264LEMD3c.1744A= (p.Ile582=)
c.1741A= (p.Ile581=)
12g.65238550A>CCA385670973LEMD3c.1744A>C (p.Ile582Leu)
c.1741A>C (p.Ile581Leu)
12g.65238550A>GCA6671027LEMD3c.1744A>G (p.Ile582Val)
c.1741A>G (p.Ile581Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238550A>TCA385670974LEMD3c.1744A>T (p.Ile582Phe)
c.1741A>T (p.Ile581Phe)
12g.65238551T>ACA385670975LEMD3c.1745T>A (p.Ile582Asn)
c.1742T>A (p.Ile581Asn)
12g.65238551T>CCA385670976LEMD3c.1745T>C (p.Ile582Thr)
c.1742T>C (p.Ile581Thr)
12g.65238551T>GCA385670977LEMD3c.1745T>G (p.Ile582Ser)
c.1742T>G (p.Ile581Ser)
12g.65238552C>ACA480666088LEMD3c.1746C>A (p.Ile582=)
c.1743C>A (p.Ile581=)
12g.65238552C=CA2042444270LEMD3c.1746C= (p.Ile582=)
c.1743C= (p.Ile581=)
12g.65238552C>GCA385670978LEMD3c.1746C>G (p.Ile582Met)
c.1743C>G (p.Ile581Met)
12g.65238552C>TCA6671028LEMD3c.1746C>T (p.Ile582=)
c.1743C>T (p.Ile581=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238553T>ACA6671029LEMD3c.1747T>A (p.Leu583Ile)
c.1744T>A (p.Leu582Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238553T>CCA480666089LEMD3c.1747T>C (p.Leu583=)
c.1744T>C (p.Leu582=)
12g.65238553T>GCA385670979LEMD3c.1747T>G (p.Leu583Val)
c.1744T>G (p.Leu582Val)
12g.65238553T=CA2042444275LEMD3c.1747T= (p.Leu583=)
c.1744T= (p.Leu582=)
12g.65238554T>ACA385670980LEMD3c.1748T>A (p.Leu583Ter)
c.1745T>A (p.Leu582Ter)
12g.65238554T>CCA385670981LEMD3c.1748T>C (p.Leu583Ser)
c.1745T>C (p.Leu582Ser)
12g.65238554T>GCA385670982LEMD3c.1748T>G (p.Leu583Ter)
c.1745T>G (p.Leu582Ter)
12g.65238555A>CCA385670983LEMD3c.1749A>C (p.Leu583Phe)
c.1746A>C (p.Leu582Phe)
12g.65238555A>GCA480666090LEMD3c.1749A>G (p.Leu583=)
c.1746A>G (p.Leu582=)
12g.65238555A>TCA385670984LEMD3c.1749A>T (p.Leu583Phe)
c.1746A>T (p.Leu582Phe)
12g.65238556G>ACA385670986LEMD3c.1750G>A (p.Glu584Lys)
c.1747G>A (p.Glu583Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.65238556G>CCA385670987LEMD3c.1750G>C (p.Glu584Gln)
c.1747G>C (p.Glu583Gln)
12g.65238556G=CA2042444280LEMD3c.1750G= (p.Glu584=)
c.1747G= (p.Glu583=)
12g.65238556G>TCA385670985LEMD3c.1750G>T (p.Glu584Ter)
c.1747G>T (p.Glu583Ter)
12g.65238557A=CA2042444284LEMD3c.1751A= (p.Glu584=)
c.1748A= (p.Glu583=)
12g.65238557A>CCA385670988LEMD3c.1751A>C (p.Glu584Ala)
c.1748A>C (p.Glu583Ala)
12g.65238557A>GCA6671030LEMD3c.1751A>G (p.Glu584Gly)
c.1748A>G (p.Glu583Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238557A>TCA385670989LEMD3c.1751A>T (p.Glu584Val)
c.1748A>T (p.Glu583Val)
12g.65238560dupCA2695217043LEMD3c.1754dup (p.Asn585LysfsTer15)
c.1751dup (p.Asn584LysfsTer15)
12g.65238558A>CCA385670990LEMD3c.1752A>C (p.Glu584Asp)
c.1749A>C (p.Glu583Asp)
12g.65238558A>GCA480666091LEMD3c.1752A>G (p.Glu584=)
c.1749A>G (p.Glu583=)
 gnomAD v4
12g.65238558A>TCA385670991LEMD3c.1752A>T (p.Glu584Asp)
c.1749A>T (p.Glu583Asp)
12g.65238559A=CA2042444290LEMD3c.1753A= (p.Asn585=)
c.1750A= (p.Asn584=)
12g.65238559A>CCA385670994LEMD3c.1753A>C (p.Asn585His)
c.1750A>C (p.Asn584His)
12g.65238559A>GCA385670992LEMD3c.1753A>G (p.Asn585Asp)
c.1750A>G (p.Asn584Asp)
 dbSNP
12g.65238559A>TCA385670993LEMD3c.1753A>T (p.Asn585Tyr)
c.1750A>T (p.Asn584Tyr)
12g.65238560A>CCA385670995LEMD3c.1754A>C (p.Asn585Thr)
c.1751A>C (p.Asn584Thr)
12g.65238560A>GCA385670996LEMD3c.1754A>G (p.Asn585Ser)
c.1751A>G (p.Asn584Ser)
12g.65238560A>TCA385670997LEMD3c.1754A>T (p.Asn585Ile)
c.1751A>T (p.Asn584Ile)
12g.65238561T>ACA385670998LEMD3c.1755T>A (p.Asn585Lys)
c.1752T>A (p.Asn584Lys)
12g.65238561T>CCA480666092LEMD3c.1755T>C (p.Asn585=)
c.1752T>C (p.Asn584=)
12g.65238561T>GCA385670999LEMD3c.1755T>G (p.Asn585Lys)
c.1752T>G (p.Asn584Lys)
12g.65238562G>ACA385671000LEMD3c.1756G>A (p.Gly586Arg)
c.1753G>A (p.Gly585Arg)
12g.65238562G>CCA385671002LEMD3c.1756G>C (p.Gly586Arg)
c.1753G>C (p.Gly585Arg)
12g.65238562G>TCA385671001LEMD3c.1756G>T (p.Gly586Ter)
c.1753G>T (p.Gly585Ter)
12g.65238563G>ACA385671003LEMD3c.1757G>A (p.Gly586Glu)
c.1754G>A (p.Gly585Glu)
 dbSNP
12g.65238563G>CCA385671004LEMD3c.1757G>C (p.Gly586Ala)
c.1754G>C (p.Gly585Ala)
12g.65238563G=CA2042444294LEMD3c.1757G= (p.Gly586=)
c.1754G= (p.Gly585=)
12g.65238563G>TCA385671005LEMD3c.1757G>T (p.Gly586Val)
c.1754G>T (p.Gly585Val)
12g.65238564A=CA2042444300LEMD3c.1758A= (p.Gly586=)
c.1755A= (p.Gly585=)
12g.65238564A>CCA480666094LEMD3c.1758A>C (p.Gly586=)
c.1755A>C (p.Gly585=)
 dbSNP gnomAD v2 gnomAD v4
12g.65238564A>GCA6671031LEMD3c.1758A>G (p.Gly586=)
c.1755A>G (p.Gly585=)
 ClinVar dbSNP ExAC gnomAD v2
12g.65238564A>TCA480666093LEMD3c.1758A>T (p.Gly586=)
c.1755A>T (p.Gly585=)
12g.65238565A>CCA385671006LEMD3c.1759A>C (p.Lys587Gln)
c.1756A>C (p.Lys586Gln)
12g.65238565A>GCA385671007LEMD3c.1759A>G (p.Lys587Glu)
c.1756A>G (p.Lys586Glu)
12g.65238565A>TCA385671008LEMD3c.1759A>T (p.Lys587Ter)
c.1756A>T (p.Lys586Ter)
12g.65238566A>CCA385671011LEMD3c.1760A>C (p.Lys587Thr)
c.1757A>C (p.Lys586Thr)
12g.65238566A>GCA385671009LEMD3c.1760A>G (p.Lys587Arg)
c.1757A>G (p.Lys586Arg)
12g.65238566A>TCA385671010LEMD3c.1760A>T (p.Lys587Ile)
c.1757A>T (p.Lys586Ile)
12g.65238567A=CA2042444307LEMD3c.1761A= (p.Lys587=)
c.1758A= (p.Lys586=)
12g.65238567A>CCA385671012LEMD3c.1761A>C (p.Lys587Asn)
c.1758A>C (p.Lys586Asn)
 dbSNP gnomAD v2
12g.65238567A>GCA480666095LEMD3c.1761A>G (p.Lys587=)
c.1758A>G (p.Lys586=)
12g.65238567A>TCA385671013LEMD3c.1761A>T (p.Lys587Asn)
c.1758A>T (p.Lys586Asn)
12g.65238568G>ACA385671014LEMD3c.1762G>A (p.Asp588Asn)
c.1759G>A (p.Asp587Asn)
12g.65238568G>CCA6671032LEMD3c.1762G>C (p.Asp588His)
c.1759G>C (p.Asp587His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.65238568G=CA2042444312LEMD3c.1762G= (p.Asp588=)
c.1759G= (p.Asp587=)
12g.65238568G>TCA385671015LEMD3c.1762G>T (p.Asp588Tyr)
c.1759G>T (p.Asp587Tyr)
12g.65238569A=CA2042444315LEMD3c.1763A= (p.Asp588=)
c.1760A= (p.Asp587=)
12g.65238569A>CCA385671016LEMD3c.1763A>C (p.Asp588Ala)
c.1760A>C (p.Asp587Ala)
12g.65238569A>GCA238915059LEMD3c.1763A>G (p.Asp588Gly)
c.1760A>G (p.Asp587Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.65238569A>TCA385671017LEMD3c.1763A>T (p.Asp588Val)
c.1760A>T (p.Asp587Val)
12g.65238570T>ACA385671018LEMD3c.1764T>A (p.Asp588Glu)
c.1761T>A (p.Asp587Glu)
 COSMIC
12g.65238570T>CCA480666096LEMD3c.1764T>C (p.Asp588=)
c.1761T>C (p.Asp587=)
 dbSNP gnomAD v3 gnomAD v4
12g.65238570T>GCA385671019LEMD3c.1764T>G (p.Asp588Glu)
c.1761T>G (p.Asp587Glu)
12g.65238570T=CA2042444321LEMD3c.1764T= (p.Asp588=)
c.1761T= (p.Asp587=)
12g.65238571G>ACA385671020LEMD3c.1765G>A (p.Val589Ile)
c.1762G>A (p.Val588Ile)
 gnomAD v4
12g.65238571G>CCA385671021LEMD3c.1765G>C (p.Val589Leu)
c.1762G>C (p.Val588Leu)
12g.65238571G>TCA385671022LEMD3c.1765G>T (p.Val589Phe)
c.1762G>T (p.Val588Phe)
12g.65238572T>ACA385671023LEMD3c.1766T>A (p.Val589Asp)
c.1763T>A (p.Val588Asp)
12g.65238572T>CCA385671024LEMD3c.1766T>C (p.Val589Ala)
c.1763T>C (p.Val588Ala)
 dbSNP
12g.65238572T>GCA385671025LEMD3c.1766T>G (p.Val589Gly)
c.1763T>G (p.Val588Gly)
12g.65238572T=CA2042444329LEMD3c.1766T= (p.Val589=)
c.1763T= (p.Val588=)
12g.65238573T>ACA480666097LEMD3c.1767T>A (p.Val589=)
c.1764T>A (p.Val588=)
12g.65238573T>CCA480666098LEMD3c.1767T>C (p.Val589=)
c.1764T>C (p.Val588=)
12g.65238573T>GCA6671033LEMD3c.1767T>G (p.Val589=)
c.1764T>G (p.Val588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.65238573T=CA2042444334LEMD3c.1767T= (p.Val589=)
c.1764T= (p.Val588=)
12g.65238574G>ACA385671026LEMD3c.1768G>A (p.Gly590Arg)
c.1765G>A (p.Gly589Arg)
12g.65238574G>CCA385671027LEMD3c.1768G>C (p.Gly590Arg)
c.1765G>C (p.Gly589Arg)
12g.65238574G>TCA385671028LEMD3c.1768G>T (p.Gly590Ter)
c.1765G>T (p.Gly589Ter)
 gnomAD v4
12g.65238575G>ACA385671029LEMD3c.1769G>A (p.Gly590Glu)
c.1766G>A (p.Gly589Glu)
12g.65238575G>CCA385671031LEMD3c.1769G>C (p.Gly590Ala)
c.1766G>C (p.Gly589Ala)
12g.65238575G>TCA385671030LEMD3c.1769G>T (p.Gly590Val)
c.1766G>T (p.Gly589Val)
12g.65238576A>CCA480666099LEMD3c.1770A>C (p.Gly590=)
c.1767A>C (p.Gly589=)
 gnomAD v4
12g.65238576A>GCA480666100LEMD3c.1770A>G (p.Gly590=)
c.1767A>G (p.Gly589=)
12g.65238576A>TCA480666101LEMD3c.1770A>T (p.Gly590=)
c.1767A>T (p.Gly589=)
12g.65238577A>CCA385671032LEMD3c.1771A>C (p.Ile591Leu)
c.1768A>C (p.Ile590Leu)
12g.65238577A>GCA385671033LEMD3c.1771A>G (p.Ile591Val)
c.1768A>G (p.Ile590Val)
 COSMIC
12g.65238577A>TCA385671034LEMD3c.1771A>T (p.Ile591Leu)
c.1768A>T (p.Ile590Leu)
12g.65238578T>ACA385671035LEMD3c.1772T>A (p.Ile591Lys)
c.1769T>A (p.Ile590Lys)
12g.65238578T>CCA385671036LEMD3c.1772T>C (p.Ile591Thr)
c.1769T>C (p.Ile590Thr)
12g.65238578T>GCA385671037LEMD3c.1772T>G (p.Ile591Arg)
c.1769T>G (p.Ile590Arg)
12g.65238579A>CCA480666102LEMD3c.1773A>C (p.Ile591=)
c.1770A>C (p.Ile590=)
12g.65238579A>GCA385671038LEMD3c.1773A>G (p.Ile591Met)
c.1770A>G (p.Ile590Met)
12g.65238579A>TCA480666103LEMD3c.1773A>T (p.Ile591=)
c.1770A>T (p.Ile590=)
12g.65238580A>CCA480666104LEMD3c.1774A>C (p.Arg592=)
c.1771A>C (p.Arg591=)
12g.65238580A>GCA385671039LEMD3c.1774A>G (p.Arg592Gly)
c.1771A>G (p.Arg591Gly)
12g.65238580A>TCA385671040LEMD3c.1774A>T (p.Arg592Trp)
c.1771A>T (p.Arg591Trp)
12g.65238581G>ACA385671041LEMD3c.1775G>A (p.Arg592Lys)
c.1772G>A (p.Arg591Lys)
 gnomAD v4
12g.65238581G>CCA385671042LEMD3c.1775G>C (p.Arg592Thr)
c.1772G>C (p.Arg591Thr)
12g.65238581G>TCA385671043LEMD3c.1775G>T (p.Arg592Met)
c.1772G>T (p.Arg591Met)
12g.65238582G>ACA385671046LEMD3c.1775+1G>A (n.1775+1G>A)
c.1772+1G>A (n.1772+1G>A)
12g.65238582G>CCA385671044LEMD3c.1775+1G>C (n.1775+1G>C)
c.1772+1G>C (n.1772+1G>C)
12g.65238582G>TCA385671045LEMD3c.1775+1G>T (n.1775+1G>T)
c.1772+1G>T (n.1772+1G>T)
12g.65238583T>ACA385671047LEMD3c.1775+2T>A (n.1775+2T>A)
c.1772+2T>A (n.1772+2T>A)
12g.65238583T>CCA385671048LEMD3c.1775+2T>C (n.1775+2T>C)
c.1772+2T>C (n.1772+2T>C)
12g.65238583T>GCA385671049LEMD3c.1775+2T>G (n.1775+2T>G)
c.1772+2T>G (n.1772+2T>G)
12g.65238584A>GCA2619669437LEMD3c.1775+3A>G (n.1775+3A>G)
c.1772+3A>G (n.1772+3A>G)
 gnomAD v4
12g.65238587G>ACA2619669438LEMD3c.1775+6G>A (n.1775+6G>A)
c.1772+6G>A (n.1772+6G>A)
 gnomAD v4
12g.65238588G>CCA2619669439LEMD3c.1775+7G>C (n.1775+7G>C)
c.1772+7G>C (n.1772+7G>C)
 gnomAD v4
12g.65238589A=CA2042444338LEMD3c.1775+8A= (n.1775+8A=)
c.1772+8A= (n.1772+8A=)
12g.65238589A>TCA238915060LEMD3c.1775+8A>T (n.1775+8A>T)
c.1772+8A>T (n.1772+8A>T)
 dbSNP gnomAD v4
12g.65238590T>CCA2619669440LEMD3c.1775+9T>C (n.1775+9T>C)
c.1772+9T>C (n.1772+9T>C)
 gnomAD v4
12g.65238591C=CA2042444345LEMD3c.1775+10C= (n.1775+10C=)
c.1772+10C= (n.1772+10C=)
12g.65238591C>GCA2619669441LEMD3c.1775+10C>G (n.1775+10C>G)
c.1772+10C>G (n.1772+10C>G)
 gnomAD v4
12g.65238591_65238592insCTTTATAACACACTCTACA605709998LEMD3c.1775+10_1775+11insCTTTATAACACACTCTA (n.1775+10_1775+11insCTTTATAACACACTCTA)
c.1772+10_1772+11insCTTTATAACACACTCTA (n.1772+10_1772+11insCTTTATAACACACTCTA)
 dbSNP gnomAD v2
12g.65238592T>CCA605709999LEMD3c.1775+11T>C (n.1775+11T>C)
c.1772+11T>C (n.1772+11T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.65238592T=CA2042444349LEMD3c.1775+11T= (n.1775+11T=)
c.1772+11T= (n.1772+11T=)
12g.65238593G>ACA605710000LEMD3c.1775+12G>A (n.1775+12G>A)
c.1772+12G>A (n.1772+12G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.65238593G=CA2042444352LEMD3c.1775+12G= (n.1775+12G=)
c.1772+12G= (n.1772+12G=)
12g.65238595T>ACA605710001LEMD3c.1775+14T>A (n.1775+14T>A)
c.1772+14T>A (n.1772+14T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.65238595T>CCA2580086648LEMD3c.1775+14T>C (n.1775+14T>C)
c.1772+14T>C (n.1772+14T>C)
 ClinVar
12g.65238595T=CA2042444354LEMD3c.1775+14T= (n.1775+14T=)
c.1772+14T= (n.1772+14T=)
12g.65238598C>ACA2619669442LEMD3c.1775+17C>A (n.1775+17C>A)
c.1772+17C>A (n.1772+17C>A)
 gnomAD v4
12g.65238599C>TCA2575215365LEMD3c.1775+18C>T (n.1775+18C>T)
c.1772+18C>T (n.1772+18C>T)
 ClinVar gnomAD v4
12g.65238600A=CA2042444359LEMD3c.1775+19A= (n.1775+19A=)
c.1772+19A= (n.1772+19A=)
12g.65238600A>CCA238915061LEMD3c.1775+19A>C (n.1775+19A>C)
c.1772+19A>C (n.1772+19A>C)
 dbSNP gnomAD v4
12g.65238600A>GCA2619669443LEMD3c.1775+19A>G (n.1775+19A>G)
c.1772+19A>G (n.1772+19A>G)
 gnomAD v4
12g.65238602T>CCA948623251LEMD3c.1775+21T>C (n.1775+21T>C)
c.1772+21T>C (n.1772+21T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.65238602T=CA2042444365LEMD3c.1775+21T= (n.1775+21T=)
c.1772+21T= (n.1772+21T=)
12g.65238603T>CCA2619669444LEMD3c.1775+22T>C (n.1775+22T>C)
c.1772+22T>C (n.1772+22T>C)
 gnomAD v4
12g.65238605G>ACA2575215366LEMD3c.1775+24G>A (n.1775+24G>A)
c.1772+24G>A (n.1772+24G>A)
12g.65238605G>TCA2619669445LEMD3c.1775+24G>T (n.1775+24G>T)
c.1772+24G>T (n.1772+24G>T)
 gnomAD v4
12g.65238606A=CA2042444370LEMD3c.1775+25A= (n.1775+25A=)
c.1772+25A= (n.1772+25A=)
12g.65238606A>CCA238915062LEMD3c.1775+25A>C (n.1775+25A>C)
c.1772+25A>C (n.1772+25A>C)
 dbSNP
12g.65238607C>ACA6671034LEMD3c.1775+26C>A (n.1775+26C>A)
c.1772+26C>A (n.1772+26C>A)
 dbSNP ExAC gnomAD v2
12g.65238607C=CA2042444374LEMD3c.1775+26C= (n.1775+26C=)
c.1772+26C= (n.1772+26C=)
12g.65238608C>ACA2619669446LEMD3c.1775+27C>A (n.1775+27C>A)
c.1772+27C>A (n.1772+27C>A)
 gnomAD v4
12g.65238609A=CA2042444382LEMD3c.1775+28A= (n.1775+28A=)
c.1772+28A= (n.1772+28A=)
12g.65238609A>GCA6671035LEMD3c.1775+28A>G (n.1775+28A>G)
c.1772+28A>G (n.1772+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched