Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129315597A=CA1663079973LAMA2c.3677A= (p.Glu1226=)
c.3941A= (p.Glu1314=)
c.3947A= (p.Glu1316=)
c.2072A= (p.Glu691=)
6g.129315597A>CCA365612986LAMA2c.3677A>C (p.Glu1226Ala)
c.3941A>C (p.Glu1314Ala)
c.3947A>C (p.Glu1316Ala)
c.2072A>C (p.Glu691Ala)
6g.129315597A>GCA365612987LAMA2c.3677A>G (p.Glu1226Gly)
c.3941A>G (p.Glu1314Gly)
c.3947A>G (p.Glu1316Gly)
c.2072A>G (p.Glu691Gly)
 dbSNP
6g.129315597A>TCA365612989LAMA2c.3677A>T (p.Glu1226Val)
c.3941A>T (p.Glu1314Val)
c.3947A>T (p.Glu1316Val)
c.2072A>T (p.Glu691Val)
6g.129315598A=CA1663079975LAMA2c.3678A= (p.Glu1226=)
c.3942A= (p.Glu1314=)
c.3948A= (p.Glu1316=)
c.2073A= (p.Glu691=)
6g.129315598A>CCA365612993LAMA2c.3678A>C (p.Glu1226Asp)
c.3942A>C (p.Glu1314Asp)
c.3948A>C (p.Glu1316Asp)
c.2073A>C (p.Glu691Asp)
6g.129315598A>GCA3993329LAMA2c.3678A>G (p.Glu1226=)
c.3942A>G (p.Glu1314=)
c.3948A>G (p.Glu1316=)
c.2073A>G (p.Glu691=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315598A>TCA365612991LAMA2c.3678A>T (p.Glu1226Asp)
c.3942A>T (p.Glu1314Asp)
c.3948A>T (p.Glu1316Asp)
c.2073A>T (p.Glu691Asp)
6g.129315599G>ACA365612994LAMA2c.3679G>A (p.Asp1227Asn)
c.3943G>A (p.Asp1315Asn)
c.3949G>A (p.Asp1317Asn)
c.2074G>A (p.Asp692Asn)
6g.129315599G>CCA365612997LAMA2c.3679G>C (p.Asp1227His)
c.3943G>C (p.Asp1315His)
c.3949G>C (p.Asp1317His)
c.2074G>C (p.Asp692His)
6g.129315599G>TCA365612995LAMA2c.3679G>T (p.Asp1227Tyr)
c.3943G>T (p.Asp1315Tyr)
c.3949G>T (p.Asp1317Tyr)
c.2074G>T (p.Asp692Tyr)
 COSMIC
6g.129315600A>CCA365612999LAMA2c.3680A>C (p.Asp1227Ala)
c.3944A>C (p.Asp1315Ala)
c.3950A>C (p.Asp1317Ala)
c.2075A>C (p.Asp692Ala)
6g.129315600A>GCA365613000LAMA2c.3680A>G (p.Asp1227Gly)
c.3944A>G (p.Asp1315Gly)
c.3950A>G (p.Asp1317Gly)
c.2075A>G (p.Asp692Gly)
6g.129315600A>TCA365613002LAMA2c.3680A>T (p.Asp1227Val)
c.3944A>T (p.Asp1315Val)
c.3950A>T (p.Asp1317Val)
c.2075A>T (p.Asp692Val)
 ClinVar gnomAD v4
6g.129315601T>ACA365613003LAMA2c.3681T>A (p.Asp1227Glu)
c.3945T>A (p.Asp1315Glu)
c.3951T>A (p.Asp1317Glu)
c.2076T>A (p.Asp692Glu)
 gnomAD v4
6g.129315601T>CCA451936759LAMA2c.3681T>C (p.Asp1227=)
c.3945T>C (p.Asp1315=)
c.3951T>C (p.Asp1317=)
c.2076T>C (p.Asp692=)
6g.129315601T>GCA365613004LAMA2c.3681T>G (p.Asp1227Glu)
c.3945T>G (p.Asp1315Glu)
c.3951T>G (p.Asp1317Glu)
c.2076T>G (p.Asp692Glu)
6g.129315602C>ACA365613006LAMA2c.3682C>A (p.Leu1228Ile)
c.3946C>A (p.Leu1316Ile)
c.3952C>A (p.Leu1318Ile)
c.2077C>A (p.Leu693Ile)
6g.129315602C>GCA365613008LAMA2c.3682C>G (p.Leu1228Val)
c.3946C>G (p.Leu1316Val)
c.3952C>G (p.Leu1318Val)
c.2077C>G (p.Leu693Val)
6g.129315602C>TCA365613009LAMA2c.3682C>T (p.Leu1228Phe)
c.3946C>T (p.Leu1316Phe)
c.3952C>T (p.Leu1318Phe)
c.2077C>T (p.Leu693Phe)
 dbSNP
6g.129315603T>ACA365613011LAMA2c.3683T>A (p.Leu1228His)
c.3947T>A (p.Leu1316His)
c.3953T>A (p.Leu1318His)
c.2078T>A (p.Leu693His)
6g.129315603T>CCA365613012LAMA2c.3683T>C (p.Leu1228Pro)
c.3947T>C (p.Leu1316Pro)
c.3953T>C (p.Leu1318Pro)
c.2078T>C (p.Leu693Pro)
6g.129315603T>GCA365613013LAMA2c.3683T>G (p.Leu1228Arg)
c.3947T>G (p.Leu1316Arg)
c.3953T>G (p.Leu1318Arg)
c.2078T>G (p.Leu693Arg)
6g.129315604C>ACA451936761LAMA2c.3684C>A (p.Leu1228=)
c.3948C>A (p.Leu1316=)
c.3954C>A (p.Leu1318=)
c.2079C>A (p.Leu693=)
6g.129315604C=CA1663079980LAMA2c.3684C= (p.Leu1228=)
c.3948C= (p.Leu1316=)
c.3954C= (p.Leu1318=)
c.2079C= (p.Leu693=)
6g.129315604C>GCA451936760LAMA2c.3684C>G (p.Leu1228=)
c.3948C>G (p.Leu1316=)
c.3954C>G (p.Leu1318=)
c.2079C>G (p.Leu693=)
6g.129315604C>TCA146914093LAMA2c.3684C>T (p.Leu1228=)
c.3948C>T (p.Leu1316=)
c.3954C>T (p.Leu1318=)
c.2079C>T (p.Leu693=)
 ClinVar dbSNP COSMIC
6g.129315605C>ACA365613018LAMA2c.3685C>A (p.His1229Asn)
c.3949C>A (p.His1317Asn)
c.3955C>A (p.His1319Asn)
c.2080C>A (p.His694Asn)
6g.129315605C=CA1663079987LAMA2c.3685C= (p.His1229=)
c.3949C= (p.His1317=)
c.3955C= (p.His1319=)
c.2080C= (p.His694=)
6g.129315605C>GCA365613016LAMA2c.3685C>G (p.His1229Asp)
c.3949C>G (p.His1317Asp)
c.3955C>G (p.His1319Asp)
c.2080C>G (p.His694Asp)
6g.129315605C>TCA146914097LAMA2c.3685C>T (p.His1229Tyr)
c.3949C>T (p.His1317Tyr)
c.3955C>T (p.His1319Tyr)
c.2080C>T (p.His694Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315606A=CA1663079997LAMA2c.3686A= (p.His1229=)
c.3950A= (p.His1317=)
c.3956A= (p.His1319=)
c.2081A= (p.His694=)
6g.129315606A>CCA3993330LAMA2c.3686A>C (p.His1229Pro)
c.3950A>C (p.His1317Pro)
c.3956A>C (p.His1319Pro)
c.2081A>C (p.His694Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315606A>GCA365613019LAMA2c.3686A>G (p.His1229Arg)
c.3950A>G (p.His1317Arg)
c.3956A>G (p.His1319Arg)
c.2081A>G (p.His694Arg)
6g.129315606A>TCA365613021LAMA2c.3686A>T (p.His1229Leu)
c.3950A>T (p.His1317Leu)
c.3956A>T (p.His1319Leu)
c.2081A>T (p.His694Leu)
 COSMIC
6g.129315607T>ACA365613023LAMA2c.3687T>A (p.His1229Gln)
c.3951T>A (p.His1317Gln)
c.3957T>A (p.His1319Gln)
c.2082T>A (p.His694Gln)
6g.129315607T>CCA451936762LAMA2c.3687T>C (p.His1229=)
c.3951T>C (p.His1317=)
c.3957T>C (p.His1319=)
c.2082T>C (p.His694=)
6g.129315607T>GCA365613024LAMA2c.3687T>G (p.His1229Gln)
c.3951T>G (p.His1317Gln)
c.3957T>G (p.His1319Gln)
c.2082T>G (p.His694Gln)
6g.129315608T>ACA365613026LAMA2c.3688T>A (p.Leu1230Met)
c.3952T>A (p.Leu1318Met)
c.3958T>A (p.Leu1320Met)
c.2083T>A (p.Leu695Met)
6g.129315608T>CCA451936763LAMA2c.3688T>C (p.Leu1230=)
c.3952T>C (p.Leu1318=)
c.3958T>C (p.Leu1320=)
c.2083T>C (p.Leu695=)
6g.129315608T>GCA365613027LAMA2c.3688T>G (p.Leu1230Val)
c.3952T>G (p.Leu1318Val)
c.3958T>G (p.Leu1320Val)
c.2083T>G (p.Leu695Val)
6g.129315609T>ACA365613029LAMA2c.3689T>A (p.Leu1230Ter)
c.3953T>A (p.Leu1318Ter)
c.3959T>A (p.Leu1320Ter)
c.2084T>A (p.Leu695Ter)
6g.129315609T>CCA365613031LAMA2c.3689T>C (p.Leu1230Ser)
c.3953T>C (p.Leu1318Ser)
c.3959T>C (p.Leu1320Ser)
c.2084T>C (p.Leu695Ser)
6g.129315609T>GCA365613032LAMA2c.3689T>G (p.Leu1230Trp)
c.3953T>G (p.Leu1318Trp)
c.3959T>G (p.Leu1320Trp)
c.2084T>G (p.Leu695Trp)
 dbSNP gnomAD v2 gnomAD v4
6g.129315609T=CA1663080001LAMA2c.3689T= (p.Leu1230=)
c.3953T= (p.Leu1318=)
c.3959T= (p.Leu1320=)
c.2084T= (p.Leu695=)
6g.129315610G>ACA451936764LAMA2c.3690G>A (p.Leu1230=)
c.3954G>A (p.Leu1318=)
c.3960G>A (p.Leu1320=)
c.2085G>A (p.Leu695=)
 ClinVar dbSNP
6g.129315610G>CCA365613033LAMA2c.3690G>C (p.Leu1230Phe)
c.3954G>C (p.Leu1318Phe)
c.3960G>C (p.Leu1320Phe)
c.2085G>C (p.Leu695Phe)
6g.129315610G>TCA365613035LAMA2c.3690G>T (p.Leu1230Phe)
c.3954G>T (p.Leu1318Phe)
c.3960G>T (p.Leu1320Phe)
c.2085G>T (p.Leu695Phe)
6g.129315611G>ACA365613040LAMA2c.3691G>A (p.Glu1231Lys)
c.3955G>A (p.Glu1319Lys)
c.3961G>A (p.Glu1321Lys)
c.2086G>A (p.Glu696Lys)
 gnomAD v4
6g.129315611G>CCA365613038LAMA2c.3691G>C (p.Glu1231Gln)
c.3955G>C (p.Glu1319Gln)
c.3961G>C (p.Glu1321Gln)
c.2086G>C (p.Glu696Gln)
6g.129315611G>TCA365613036LAMA2c.3691G>T (p.Glu1231Ter)
c.3955G>T (p.Glu1319Ter)
c.3961G>T (p.Glu1321Ter)
c.2086G>T (p.Glu696Ter)
 gnomAD v4
6g.129315612A>CCA365613041LAMA2c.3692A>C (p.Glu1231Ala)
c.3956A>C (p.Glu1319Ala)
c.3962A>C (p.Glu1321Ala)
c.2087A>C (p.Glu696Ala)
6g.129315612A>GCA365613042LAMA2c.3692A>G (p.Glu1231Gly)
c.3956A>G (p.Glu1319Gly)
c.3962A>G (p.Glu1321Gly)
c.2087A>G (p.Glu696Gly)
6g.129315612A>TCA365613044LAMA2c.3692A>T (p.Glu1231Val)
c.3956A>T (p.Glu1319Val)
c.3962A>T (p.Glu1321Val)
c.2087A>T (p.Glu696Val)
6g.129315613delCA2740787083LAMA2c.3693del (p.Glu1231AspfsTer16)
c.3957del (p.Glu1319AspfsTer16)
c.3963del (p.Glu1321AspfsTer16)
c.2088del (p.Glu696AspfsTer16)
6g.129315613A=CA1663080006LAMA2c.3693A= (p.Glu1231=)
c.3957A= (p.Glu1319=)
c.3963A= (p.Glu1321=)
c.2088A= (p.Glu696=)
6g.129315613A>CCA365613046LAMA2c.3693A>C (p.Glu1231Asp)
c.3957A>C (p.Glu1319Asp)
c.3963A>C (p.Glu1321Asp)
c.2088A>C (p.Glu696Asp)
6g.129315613A>GCA451936765LAMA2c.3693A>G (p.Glu1231=)
c.3957A>G (p.Glu1319=)
c.3963A>G (p.Glu1321=)
c.2088A>G (p.Glu696=)
 ClinVar dbSNP
6g.129315613A>TCA365613047LAMA2c.3693A>T (p.Glu1231Asp)
c.3957A>T (p.Glu1319Asp)
c.3963A>T (p.Glu1321Asp)
c.2088A>T (p.Glu696Asp)
 COSMIC
6g.129315614C>ACA3993332LAMA2c.3694C>A (p.Pro1232Thr)
c.3958C>A (p.Pro1320Thr)
c.3964C>A (p.Pro1322Thr)
c.2089C>A (p.Pro697Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315614C=CA1663080019LAMA2c.3694C= (p.Pro1232=)
c.3958C= (p.Pro1320=)
c.3964C= (p.Pro1322=)
c.2089C= (p.Pro697=)
6g.129315614C>GCA3993331LAMA2c.3694C>G (p.Pro1232Ala)
c.3958C>G (p.Pro1320Ala)
c.3964C>G (p.Pro1322Ala)
c.2089C>G (p.Pro697Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315614C>TCA146914111LAMA2c.3694C>T (p.Pro1232Ser)
c.3958C>T (p.Pro1320Ser)
c.3964C>T (p.Pro1322Ser)
c.2089C>T (p.Pro697Ser)
 dbSNP gnomAD v4
6g.129315615C>ACA3993333LAMA2c.3695C>A (p.Pro1232His)
c.3959C>A (p.Pro1320His)
c.3965C>A (p.Pro1322His)
c.2090C>A (p.Pro697His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315615C=CA1663080037LAMA2c.3695C= (p.Pro1232=)
c.3959C= (p.Pro1320=)
c.3965C= (p.Pro1322=)
c.2090C= (p.Pro697=)
6g.129315615C>GCA365613050LAMA2c.3695C>G (p.Pro1232Arg)
c.3959C>G (p.Pro1320Arg)
c.3965C>G (p.Pro1322Arg)
c.2090C>G (p.Pro697Arg)
6g.129315615C>TCA365613052LAMA2c.3695C>T (p.Pro1232Leu)
c.3959C>T (p.Pro1320Leu)
c.3965C>T (p.Pro1322Leu)
c.2090C>T (p.Pro697Leu)
6g.129315616T>ACA451936766LAMA2c.3696T>A (p.Pro1232=)
c.3960T>A (p.Pro1320=)
c.3966T>A (p.Pro1322=)
c.2091T>A (p.Pro697=)
6g.129315616T>CCA451936767LAMA2c.3696T>C (p.Pro1232=)
c.3960T>C (p.Pro1320=)
c.3966T>C (p.Pro1322=)
c.2091T>C (p.Pro697=)
6g.129315616T>GCA451936768LAMA2c.3696T>G (p.Pro1232=)
c.3960T>G (p.Pro1320=)
c.3966T>G (p.Pro1322=)
c.2091T>G (p.Pro697=)
6g.129315617T>ACA365613054LAMA2c.3697T>A (p.Phe1233Ile)
c.3961T>A (p.Phe1321Ile)
c.3967T>A (p.Phe1323Ile)
c.2092T>A (p.Phe698Ile)
6g.129315617T>CCA365613056LAMA2c.3697T>C (p.Phe1233Leu)
c.3961T>C (p.Phe1321Leu)
c.3967T>C (p.Phe1323Leu)
c.2092T>C (p.Phe698Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315617T>GCA365613057LAMA2c.3697T>G (p.Phe1233Val)
c.3961T>G (p.Phe1321Val)
c.3967T>G (p.Phe1323Val)
c.2092T>G (p.Phe698Val)
6g.129315617T=CA1663080043LAMA2c.3697T= (p.Phe1233=)
c.3961T= (p.Phe1321=)
c.3967T= (p.Phe1323=)
c.2092T= (p.Phe698=)
6g.129315620_129315621insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTCA2580615764LAMA2c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234PhefsTer9)
c.3964_3965insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1322PhefsTer9)
c.3970_3971insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1324PhefsTer9)
c.2095_2096insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr699PhefsTer9)
6g.129315618T>ACA365613058LAMA2c.3698T>A (p.Phe1233Tyr)
c.3962T>A (p.Phe1321Tyr)
c.3968T>A (p.Phe1323Tyr)
c.2093T>A (p.Phe698Tyr)
6g.129315618T>CCA365613060LAMA2c.3698T>C (p.Phe1233Ser)
c.3962T>C (p.Phe1321Ser)
c.3968T>C (p.Phe1323Ser)
c.2093T>C (p.Phe698Ser)
6g.129315618T>GCA365613059LAMA2c.3698T>G (p.Phe1233Cys)
c.3962T>G (p.Phe1321Cys)
c.3968T>G (p.Phe1323Cys)
c.2093T>G (p.Phe698Cys)
6g.129315619T>ACA365613061LAMA2c.3699T>A (p.Phe1233Leu)
c.3963T>A (p.Phe1321Leu)
c.3969T>A (p.Phe1323Leu)
c.2094T>A (p.Phe698Leu)
6g.129315619T>CCA451936769LAMA2c.3699T>C (p.Phe1233=)
c.3963T>C (p.Phe1321=)
c.3969T>C (p.Phe1323=)
c.2094T>C (p.Phe698=)
6g.129315619T>GCA365613062LAMA2c.3699T>G (p.Phe1233Leu)
c.3963T>G (p.Phe1321Leu)
c.3969T>G (p.Phe1323Leu)
c.2094T>G (p.Phe698Leu)
6g.129315620T>ACA365613063LAMA2c.3700T>A (p.Tyr1234Asn)
c.3964T>A (p.Tyr1322Asn)
c.3970T>A (p.Tyr1324Asn)
c.2095T>A (p.Tyr699Asn)
6g.129315620T>CCA365613064LAMA2c.3700T>C (p.Tyr1234His)
c.3964T>C (p.Tyr1322His)
c.3970T>C (p.Tyr1324His)
c.2095T>C (p.Tyr699His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315620T>GCA365613065LAMA2c.3700T>G (p.Tyr1234Asp)
c.3964T>G (p.Tyr1322Asp)
c.3970T>G (p.Tyr1324Asp)
c.2095T>G (p.Tyr699Asp)
6g.129315620T=CA1663080048LAMA2c.3700T= (p.Tyr1234=)
c.3964T= (p.Tyr1322=)
c.3970T= (p.Tyr1324=)
c.2095T= (p.Tyr699=)
6g.129315621delCA2578737113LAMA2c.3701del (p.Tyr1234PhefsTer13)
c.3965del (p.Tyr1322PhefsTer13)
c.3971del (p.Tyr1324PhefsTer13)
c.2096del (p.Tyr699PhefsTer13)
6g.129315621A=CA1663080050LAMA2c.3701A= (p.Tyr1234=)
c.3965A= (p.Tyr1322=)
c.3971A= (p.Tyr1324=)
c.2096A= (p.Tyr699=)
6g.129315621A>CCA365613066LAMA2c.3701A>C (p.Tyr1234Ser)
c.3965A>C (p.Tyr1322Ser)
c.3971A>C (p.Tyr1324Ser)
c.2096A>C (p.Tyr699Ser)
6g.129315621A>GCA365613067LAMA2c.3701A>G (p.Tyr1234Cys)
c.3965A>G (p.Tyr1322Cys)
c.3971A>G (p.Tyr1324Cys)
c.2096A>G (p.Tyr699Cys)
 gnomAD v4
6g.129315621A>TCA365613068LAMA2c.3701A>T (p.Tyr1234Phe)
c.3965A>T (p.Tyr1322Phe)
c.3971A>T (p.Tyr1324Phe)
c.2096A>T (p.Tyr699Phe)
 dbSNP
6g.129315621dupCA2680313966LAMA2c.3701dup (p.Tyr1234Ter)
c.3965dup (p.Tyr1322Ter)
c.3971dup (p.Tyr1324Ter)
c.2096dup (p.Tyr699Ter)
 gnomAD v4
6g.129315622T>ACA365613069LAMA2c.3702T>A (p.Tyr1234Ter)
c.3966T>A (p.Tyr1322Ter)
c.3972T>A (p.Tyr1324Ter)
c.2097T>A (p.Tyr699Ter)
6g.129315622T>CCA3993334LAMA2c.3702T>C (p.Tyr1234=)
c.3966T>C (p.Tyr1322=)
c.3972T>C (p.Tyr1324=)
c.2097T>C (p.Tyr699=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315622T>GCA365613070LAMA2c.3702T>G (p.Tyr1234Ter)
c.3966T>G (p.Tyr1322Ter)
c.3972T>G (p.Tyr1324Ter)
c.2097T>G (p.Tyr699Ter)
6g.129315622T=CA1663080055LAMA2c.3702T= (p.Tyr1234=)
c.3966T= (p.Tyr1322=)
c.3972T= (p.Tyr1324=)
c.2097T= (p.Tyr699=)
6g.129315623T>ACA365613073LAMA2c.3703T>A (p.Trp1235Arg)
c.3967T>A (p.Trp1323Arg)
c.3973T>A (p.Trp1325Arg)
c.2098T>A (p.Trp700Arg)
 gnomAD v4
6g.129315623T>CCA365613072LAMA2c.3703T>C (p.Trp1235Arg)
c.3967T>C (p.Trp1323Arg)
c.3973T>C (p.Trp1325Arg)
c.2098T>C (p.Trp700Arg)
 COSMIC
6g.129315623T>GCA365613071LAMA2c.3703T>G (p.Trp1235Gly)
c.3967T>G (p.Trp1323Gly)
c.3973T>G (p.Trp1325Gly)
c.2098T>G (p.Trp700Gly)
6g.129315624G>ACA365613074LAMA2c.3704G>A (p.Trp1235Ter)
c.3968G>A (p.Trp1323Ter)
c.3974G>A (p.Trp1325Ter)
c.2099G>A (p.Trp700Ter)
 ClinVar dbSNP
6g.129315624G>CCA365613076LAMA2c.3704G>C (p.Trp1235Ser)
c.3968G>C (p.Trp1323Ser)
c.3974G>C (p.Trp1325Ser)
c.2099G>C (p.Trp700Ser)
6g.129315624G=CA1663080058LAMA2c.3704G= (p.Trp1235=)
c.3968G= (p.Trp1323=)
c.3974G= (p.Trp1325=)
c.2099G= (p.Trp700=)
6g.129315624G>TCA365613075LAMA2c.3704G>T (p.Trp1235Leu)
c.3968G>T (p.Trp1323Leu)
c.3974G>T (p.Trp1325Leu)
c.2099G>T (p.Trp700Leu)
6g.129315625G>ACA365613077LAMA2c.3705G>A (p.Trp1235Ter)
c.3969G>A (p.Trp1323Ter)
c.3975G>A (p.Trp1325Ter)
c.2100G>A (p.Trp700Ter)
 ClinVar COSMIC
6g.129315625G>CCA365613079LAMA2c.3705G>C (p.Trp1235Cys)
c.3969G>C (p.Trp1323Cys)
c.3975G>C (p.Trp1325Cys)
c.2100G>C (p.Trp700Cys)
6g.129315625G>TCA365613078LAMA2c.3705G>T (p.Trp1235Cys)
c.3969G>T (p.Trp1323Cys)
c.3975G>T (p.Trp1325Cys)
c.2100G>T (p.Trp700Cys)
6g.129315626A=CA1663080067LAMA2c.3706A= (p.Lys1236=)
c.3970A= (p.Lys1324=)
c.3976A= (p.Lys1326=)
c.2101A= (p.Lys701=)
6g.129315626A>CCA365613080LAMA2c.3706A>C (p.Lys1236Gln)
c.3970A>C (p.Lys1324Gln)
c.3976A>C (p.Lys1326Gln)
c.2101A>C (p.Lys701Gln)
6g.129315626A>GCA365613082LAMA2c.3706A>G (p.Lys1236Glu)
c.3970A>G (p.Lys1324Glu)
c.3976A>G (p.Lys1326Glu)
c.2101A>G (p.Lys701Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315626A>TCA365613081LAMA2c.3706A>T (p.Lys1236Ter)
c.3970A>T (p.Lys1324Ter)
c.3976A>T (p.Lys1326Ter)
c.2101A>T (p.Lys701Ter)
6g.129315627A>CCA365613083LAMA2c.3707A>C (p.Lys1236Thr)
c.3971A>C (p.Lys1324Thr)
c.3977A>C (p.Lys1326Thr)
c.2102A>C (p.Lys701Thr)
 gnomAD v4
6g.129315627A>GCA365613085LAMA2c.3707A>G (p.Lys1236Arg)
c.3971A>G (p.Lys1324Arg)
c.3977A>G (p.Lys1326Arg)
c.2102A>G (p.Lys701Arg)
 gnomAD v4
6g.129315627A>TCA365613084LAMA2c.3707A>T (p.Lys1236Ile)
c.3971A>T (p.Lys1324Ile)
c.3977A>T (p.Lys1326Ile)
c.2102A>T (p.Lys701Ile)
6g.129315628A>CCA365613086LAMA2c.3708A>C (p.Lys1236Asn)
c.3972A>C (p.Lys1324Asn)
c.3978A>C (p.Lys1326Asn)
c.2103A>C (p.Lys701Asn)
6g.129315628A>GCA451936770LAMA2c.3708A>G (p.Lys1236=)
c.3972A>G (p.Lys1324=)
c.3978A>G (p.Lys1326=)
c.2103A>G (p.Lys701=)
6g.129315628A>TCA365613087LAMA2c.3708A>T (p.Lys1236Asn)
c.3972A>T (p.Lys1324Asn)
c.3978A>T (p.Lys1326Asn)
c.2103A>T (p.Lys701Asn)
6g.129315629C>ACA365613088LAMA2c.3709C>A (p.Leu1237Ile)
c.3973C>A (p.Leu1325Ile)
c.3979C>A (p.Leu1327Ile)
c.2104C>A (p.Leu702Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.129315629C=CA1663080079LAMA2c.3709C= (p.Leu1237=)
c.3973C= (p.Leu1325=)
c.3979C= (p.Leu1327=)
c.2104C= (p.Leu702=)
6g.129315629C>GCA365613089LAMA2c.3709C>G (p.Leu1237Val)
c.3973C>G (p.Leu1325Val)
c.3979C>G (p.Leu1327Val)
c.2104C>G (p.Leu702Val)
6g.129315629C>TCA365613090LAMA2c.3709C>T (p.Leu1237Phe)
c.3973C>T (p.Leu1325Phe)
c.3979C>T (p.Leu1327Phe)
c.2104C>T (p.Leu702Phe)
6g.129315630T>ACA365613091LAMA2c.3710T>A (p.Leu1237His)
c.3974T>A (p.Leu1325His)
c.3980T>A (p.Leu1327His)
c.2105T>A (p.Leu702His)
6g.129315630T>CCA365613092LAMA2c.3710T>C (p.Leu1237Pro)
c.3974T>C (p.Leu1325Pro)
c.3980T>C (p.Leu1327Pro)
c.2105T>C (p.Leu702Pro)
6g.129315630T>GCA365613093LAMA2c.3710T>G (p.Leu1237Arg)
c.3974T>G (p.Leu1325Arg)
c.3980T>G (p.Leu1327Arg)
c.2105T>G (p.Leu702Arg)
6g.129315631T>ACA451936771LAMA2c.3711T>A (p.Leu1237=)
c.3975T>A (p.Leu1325=)
c.3981T>A (p.Leu1327=)
c.2106T>A (p.Leu702=)
6g.129315631T>CCA451936773LAMA2c.3711T>C (p.Leu1237=)
c.3975T>C (p.Leu1325=)
c.3981T>C (p.Leu1327=)
c.2106T>C (p.Leu702=)
6g.129315631T>GCA451936772LAMA2c.3711T>G (p.Leu1237=)
c.3975T>G (p.Leu1325=)
c.3981T>G (p.Leu1327=)
c.2106T>G (p.Leu702=)
6g.129315632C>ACA365613096LAMA2c.3712C>A (p.Pro1238Thr)
c.3976C>A (p.Pro1326Thr)
c.3982C>A (p.Pro1328Thr)
c.2107C>A (p.Pro703Thr)
6g.129315632C=CA1663080083LAMA2c.3712C= (p.Pro1238=)
c.3976C= (p.Pro1326=)
c.3982C= (p.Pro1328=)
c.2107C= (p.Pro703=)
6g.129315632C>GCA365613095LAMA2c.3712C>G (p.Pro1238Ala)
c.3976C>G (p.Pro1326Ala)
c.3982C>G (p.Pro1328Ala)
c.2107C>G (p.Pro703Ala)
 dbSNP
6g.129315632C>TCA365613094LAMA2c.3712C>T (p.Pro1238Ser)
c.3976C>T (p.Pro1326Ser)
c.3982C>T (p.Pro1328Ser)
c.2107C>T (p.Pro703Ser)
 COSMIC
6g.129315633C>ACA365613097LAMA2c.3713C>A (p.Pro1238Gln)
c.3977C>A (p.Pro1326Gln)
c.3983C>A (p.Pro1328Gln)
c.2108C>A (p.Pro703Gln)
6g.129315633C>GCA365613098LAMA2c.3713C>G (p.Pro1238Arg)
c.3977C>G (p.Pro1326Arg)
c.3983C>G (p.Pro1328Arg)
c.2108C>G (p.Pro703Arg)
6g.129315633C>TCA365613099LAMA2c.3713C>T (p.Pro1238Leu)
c.3977C>T (p.Pro1326Leu)
c.3983C>T (p.Pro1328Leu)
c.2108C>T (p.Pro703Leu)
 gnomAD v4
6g.129315634A=CA1663080087LAMA2c.3714A= (p.Pro1238=)
c.3978A= (p.Pro1326=)
c.3984A= (p.Pro1328=)
c.2109A= (p.Pro703=)
6g.129315634A>CCA451936774LAMA2c.3714A>C (p.Pro1238=)
c.3978A>C (p.Pro1326=)
c.3984A>C (p.Pro1328=)
c.2109A>C (p.Pro703=)
6g.129315634A>GCA451936775LAMA2c.3714A>G (p.Pro1238=)
c.3978A>G (p.Pro1326=)
c.3984A>G (p.Pro1328=)
c.2109A>G (p.Pro703=)
 dbSNP gnomAD v2 gnomAD v4
6g.129315634A>TCA451936776LAMA2c.3714A>T (p.Pro1238=)
c.3978A>T (p.Pro1326=)
c.3984A>T (p.Pro1328=)
c.2109A>T (p.Pro703=)
 COSMIC
6g.129315635G>ACA365613100LAMA2c.3715G>A (p.Glu1239Lys)
c.3979G>A (p.Glu1327Lys)
c.3985G>A (p.Glu1329Lys)
c.2110G>A (p.Glu704Lys)
6g.129315635G>CCA365613101LAMA2c.3715G>C (p.Glu1239Gln)
c.3979G>C (p.Glu1327Gln)
c.3985G>C (p.Glu1329Gln)
c.2110G>C (p.Glu704Gln)
6g.129315635G>TCA365613102LAMA2c.3715G>T (p.Glu1239Ter)
c.3979G>T (p.Glu1327Ter)
c.3985G>T (p.Glu1329Ter)
c.2110G>T (p.Glu704Ter)
 COSMIC
6g.129315636A=CA1663080096LAMA2c.3716A= (p.Glu1239=)
c.3980A= (p.Glu1327=)
c.3986A= (p.Glu1329=)
c.2111A= (p.Glu704=)
6g.129315636A>CCA365613103LAMA2c.3716A>C (p.Glu1239Ala)
c.3980A>C (p.Glu1327Ala)
c.3986A>C (p.Glu1329Ala)
c.2111A>C (p.Glu704Ala)
6g.129315636A>GCA365613105LAMA2c.3716A>G (p.Glu1239Gly)
c.3980A>G (p.Glu1327Gly)
c.3986A>G (p.Glu1329Gly)
c.2111A>G (p.Glu704Gly)
 ClinVar dbSNP gnomAD v4
6g.129315636A>TCA365613104LAMA2c.3716A>T (p.Glu1239Val)
c.3980A>T (p.Glu1327Val)
c.3986A>T (p.Glu1329Val)
c.2111A>T (p.Glu704Val)
6g.129315637A>CCA365613106LAMA2c.3717A>C (p.Glu1239Asp)
c.3981A>C (p.Glu1327Asp)
c.3987A>C (p.Glu1329Asp)
c.2112A>C (p.Glu704Asp)
6g.129315637A>GCA451936777LAMA2c.3717A>G (p.Glu1239=)
c.3981A>G (p.Glu1327=)
c.3987A>G (p.Glu1329=)
c.2112A>G (p.Glu704=)
 ClinVar gnomAD v4
6g.129315637A>TCA365613107LAMA2c.3717A>T (p.Glu1239Asp)
c.3981A>T (p.Glu1327Asp)
c.3987A>T (p.Glu1329Asp)
c.2112A>T (p.Glu704Asp)
6g.129315638C>ACA365613108LAMA2c.3718C>A (p.Gln1240Lys)
c.3982C>A (p.Gln1328Lys)
c.3988C>A (p.Gln1330Lys)
c.2113C>A (p.Gln705Lys)
6g.129315638C=CA1663080101LAMA2c.3718C= (p.Gln1240=)
c.3982C= (p.Gln1328=)
c.3988C= (p.Gln1330=)
c.2113C= (p.Gln705=)
6g.129315638C>GCA365613109LAMA2c.3718C>G (p.Gln1240Glu)
c.3982C>G (p.Gln1328Glu)
c.3988C>G (p.Gln1330Glu)
c.2113C>G (p.Gln705Glu)
6g.129315638C>TCA220762LAMA2c.3718C>T (p.Gln1240Ter)
c.3982C>T (p.Gln1328Ter)
c.3988C>T (p.Gln1330Ter)
c.2113C>T (p.Gln705Ter)
 ClinVar dbSNP
6g.129315639A>CCA365613110LAMA2c.3719A>C (p.Gln1240Pro)
c.3983A>C (p.Gln1328Pro)
c.3989A>C (p.Gln1330Pro)
c.2114A>C (p.Gln705Pro)
6g.129315639A>GCA365613111LAMA2c.3719A>G (p.Gln1240Arg)
c.3983A>G (p.Gln1328Arg)
c.3989A>G (p.Gln1330Arg)
c.2114A>G (p.Gln705Arg)
6g.129315639A>TCA365613112LAMA2c.3719A>T (p.Gln1240Leu)
c.3983A>T (p.Gln1328Leu)
c.3989A>T (p.Gln1330Leu)
c.2114A>T (p.Gln705Leu)
6g.129315640A=CA1663080111LAMA2c.3720A= (p.Gln1240=)
c.3984A= (p.Gln1328=)
c.3990A= (p.Gln1330=)
c.2115A= (p.Gln705=)
6g.129315640A>CCA365613113LAMA2c.3720A>C (p.Gln1240His)
c.3984A>C (p.Gln1328His)
c.3990A>C (p.Gln1330His)
c.2115A>C (p.Gln705His)
 COSMIC
6g.129315640A>GCA3993335LAMA2c.3720A>G (p.Gln1240=)
c.3984A>G (p.Gln1328=)
c.3990A>G (p.Gln1330=)
c.2115A>G (p.Gln705=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315640A>TCA365613114LAMA2c.3720A>T (p.Gln1240His)
c.3984A>T (p.Gln1328His)
c.3990A>T (p.Gln1330His)
c.2115A>T (p.Gln705His)
6g.129315641T>ACA365613115LAMA2c.3721T>A (p.Phe1241Ile)
c.3985T>A (p.Phe1329Ile)
c.3991T>A (p.Phe1331Ile)
c.2116T>A (p.Phe706Ile)
6g.129315641T>CCA365613117LAMA2c.3721T>C (p.Phe1241Leu)
c.3985T>C (p.Phe1329Leu)
c.3991T>C (p.Phe1331Leu)
c.2116T>C (p.Phe706Leu)
6g.129315641T>GCA365613116LAMA2c.3721T>G (p.Phe1241Val)
c.3985T>G (p.Phe1329Val)
c.3991T>G (p.Phe1331Val)
c.2116T>G (p.Phe706Val)
6g.129315642T>ACA365613118LAMA2c.3722T>A (p.Phe1241Tyr)
c.3986T>A (p.Phe1329Tyr)
c.3992T>A (p.Phe1331Tyr)
c.2117T>A (p.Phe706Tyr)
6g.129315642T>CCA365613119LAMA2c.3722T>C (p.Phe1241Ser)
c.3986T>C (p.Phe1329Ser)
c.3992T>C (p.Phe1331Ser)
c.2117T>C (p.Phe706Ser)
6g.129315642T>GCA365613120LAMA2c.3722T>G (p.Phe1241Cys)
c.3986T>G (p.Phe1329Cys)
c.3992T>G (p.Phe1331Cys)
c.2117T>G (p.Phe706Cys)
6g.129315643T>ACA365613121LAMA2c.3723T>A (p.Phe1241Leu)
c.3987T>A (p.Phe1329Leu)
c.3993T>A (p.Phe1331Leu)
c.2118T>A (p.Phe706Leu)
 gnomAD v4
6g.129315643T>CCA451936778LAMA2c.3723T>C (p.Phe1241=)
c.3987T>C (p.Phe1329=)
c.3993T>C (p.Phe1331=)
c.2118T>C (p.Phe706=)
6g.129315643T>GCA365613122LAMA2c.3723T>G (p.Phe1241Leu)
c.3987T>G (p.Phe1329Leu)
c.3993T>G (p.Phe1331Leu)
c.2118T>G (p.Phe706Leu)
6g.129315644G>ACA3993336LAMA2c.3724G>A (p.Glu1242Lys)
c.3988G>A (p.Glu1330Lys)
c.3994G>A (p.Glu1332Lys)
c.2119G>A (p.Glu707Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315644G>CCA365613123LAMA2c.3724G>C (p.Glu1242Gln)
c.3988G>C (p.Glu1330Gln)
c.3994G>C (p.Glu1332Gln)
c.2119G>C (p.Glu707Gln)
6g.129315644G=CA1663080116LAMA2c.3724G= (p.Glu1242=)
c.3988G= (p.Glu1330=)
c.3994G= (p.Glu1332=)
c.2119G= (p.Glu707=)
6g.129315644G>TCA365613124LAMA2c.3724G>T (p.Glu1242Ter)
c.3988G>T (p.Glu1330Ter)
c.3994G>T (p.Glu1332Ter)
c.2119G>T (p.Glu707Ter)
6g.129315645A>CCA365613125LAMA2c.3725A>C (p.Glu1242Ala)
c.3989A>C (p.Glu1330Ala)
c.3995A>C (p.Glu1332Ala)
c.2120A>C (p.Glu707Ala)
6g.129315645A>GCA365613126LAMA2c.3725A>G (p.Glu1242Gly)
c.3989A>G (p.Glu1330Gly)
c.3995A>G (p.Glu1332Gly)
c.2120A>G (p.Glu707Gly)
6g.129315645A>TCA365613127LAMA2c.3725A>T (p.Glu1242Val)
c.3989A>T (p.Glu1330Val)
c.3995A>T (p.Glu1332Val)
c.2120A>T (p.Glu707Val)
6g.129315646delCA2695206986LAMA2c.3726del (p.Gly1243GlufsTer4)
c.3990del (p.Gly1331GlufsTer4)
c.3996del (p.Gly1333GlufsTer4)
c.2121del (p.Gly708GlufsTer4)
6g.129315646A>CCA365613128LAMA2c.3726A>C (p.Glu1242Asp)
c.3990A>C (p.Glu1330Asp)
c.3996A>C (p.Glu1332Asp)
c.2121A>C (p.Glu707Asp)
6g.129315646A>GCA451936779LAMA2c.3726A>G (p.Glu1242=)
c.3990A>G (p.Glu1330=)
c.3996A>G (p.Glu1332=)
c.2121A>G (p.Glu707=)
6g.129315646A>TCA365613129LAMA2c.3726A>T (p.Glu1242Asp)
c.3990A>T (p.Glu1330Asp)
c.3996A>T (p.Glu1332Asp)
c.2121A>T (p.Glu707Asp)
6g.129315647G>ACA365613130LAMA2c.3727G>A (p.Gly1243Arg)
c.3991G>A (p.Gly1331Arg)
c.3997G>A (p.Gly1333Arg)
c.2122G>A (p.Gly708Arg)
 ClinVar
6g.129315647G>CCA365613132LAMA2c.3727G>C (p.Gly1243Arg)
c.3991G>C (p.Gly1331Arg)
c.3997G>C (p.Gly1333Arg)
c.2122G>C (p.Gly708Arg)
6g.129315647G>TCA365613131LAMA2c.3727G>T (p.Gly1243Ter)
c.3991G>T (p.Gly1331Ter)
c.3997G>T (p.Gly1333Ter)
c.2122G>T (p.Gly708Ter)
6g.129315648G>ACA146914121LAMA2c.3728G>A (p.Gly1243Glu)
c.3992G>A (p.Gly1331Glu)
c.3998G>A (p.Gly1333Glu)
c.2123G>A (p.Gly708Glu)
 dbSNP
6g.129315648G>CCA365613133LAMA2c.3728G>C (p.Gly1243Ala)
c.3992G>C (p.Gly1331Ala)
c.3998G>C (p.Gly1333Ala)
c.2123G>C (p.Gly708Ala)
 gnomAD v4
6g.129315648G=CA1663080118LAMA2c.3728G= (p.Gly1243=)
c.3992G= (p.Gly1331=)
c.3998G= (p.Gly1333=)
c.2123G= (p.Gly708=)
6g.129315648G>TCA365613134LAMA2c.3728G>T (p.Gly1243Val)
c.3992G>T (p.Gly1331Val)
c.3998G>T (p.Gly1333Val)
c.2123G>T (p.Gly708Val)
6g.129315649A=CA1663080121LAMA2c.3729A= (p.Gly1243=)
c.3993A= (p.Gly1331=)
c.3999A= (p.Gly1333=)
c.2124A= (p.Gly708=)
6g.129315649A>CCA451936780LAMA2c.3729A>C (p.Gly1243=)
c.3993A>C (p.Gly1331=)
c.3999A>C (p.Gly1333=)
c.2124A>C (p.Gly708=)
6g.129315649A>GCA451936781LAMA2c.3729A>G (p.Gly1243=)
c.3993A>G (p.Gly1331=)
c.3999A>G (p.Gly1333=)
c.2124A>G (p.Gly708=)
 dbSNP
6g.129315649A>TCA451936782LAMA2c.3729A>T (p.Gly1243=)
c.3993A>T (p.Gly1331=)
c.3999A>T (p.Gly1333=)
c.2124A>T (p.Gly708=)
6g.129315650A>CCA365613135LAMA2c.3730A>C (p.Lys1244Gln)
c.3994A>C (p.Lys1332Gln)
c.4000A>C (p.Lys1334Gln)
c.2125A>C (p.Lys709Gln)
6g.129315650A>GCA365613136LAMA2c.3730A>G (p.Lys1244Glu)
c.3994A>G (p.Lys1332Glu)
c.4000A>G (p.Lys1334Glu)
c.2125A>G (p.Lys709Glu)
 ClinVar
6g.129315650A>TCA365613137LAMA2c.3730A>T (p.Lys1244Ter)
c.3994A>T (p.Lys1332Ter)
c.4000A>T (p.Lys1334Ter)
c.2125A>T (p.Lys709Ter)
6g.129315651A>CCA365613138LAMA2c.3731A>C (p.Lys1244Thr)
c.3995A>C (p.Lys1332Thr)
c.4001A>C (p.Lys1334Thr)
c.2126A>C (p.Lys709Thr)
 gnomAD v4
6g.129315651A>GCA365613139LAMA2c.3731A>G (p.Lys1244Arg)
c.3995A>G (p.Lys1332Arg)
c.4001A>G (p.Lys1334Arg)
c.2126A>G (p.Lys709Arg)
6g.129315651A>TCA365613140LAMA2c.3731A>T (p.Lys1244Met)
c.3995A>T (p.Lys1332Met)
c.4001A>T (p.Lys1334Met)
c.2126A>T (p.Lys709Met)
6g.129315652G>ACA451936783LAMA2c.3732G>A (p.Lys1244=)
c.3996G>A (p.Lys1332=)
c.4002G>A (p.Lys1334=)
c.2127G>A (p.Lys709=)
 gnomAD v4 COSMIC
6g.129315652G>CCA365613141LAMA2c.3732G>C (p.Lys1244Asn)
c.3996G>C (p.Lys1332Asn)
c.4002G>C (p.Lys1334Asn)
c.2127G>C (p.Lys709Asn)
6g.129315652G>TCA365613142LAMA2c.3732G>T (p.Lys1244Asn)
c.3996G>T (p.Lys1332Asn)
c.4002G>T (p.Lys1334Asn)
c.2127G>T (p.Lys709Asn)
6g.129315653A>CCA365613145LAMA2c.3733A>C (p.Lys1245Gln)
c.3997A>C (p.Lys1333Gln)
c.4003A>C (p.Lys1335Gln)
c.2128A>C (p.Lys710Gln)
6g.129315653A>GCA365613144LAMA2c.3733A>G (p.Lys1245Glu)
c.3997A>G (p.Lys1333Glu)
c.4003A>G (p.Lys1335Glu)
c.2128A>G (p.Lys710Glu)
6g.129315653A>TCA365613143LAMA2c.3733A>T (p.Lys1245Ter)
c.3997A>T (p.Lys1333Ter)
c.4003A>T (p.Lys1335Ter)
c.2128A>T (p.Lys710Ter)
 gnomAD v4
6g.129315654A=CA1663080125LAMA2c.3734A= (p.Lys1245=)
c.3998A= (p.Lys1333=)
c.4004A= (p.Lys1335=)
c.2129A= (p.Lys710=)
6g.129315654A>CCA365613147LAMA2c.3734A>C (p.Lys1245Thr)
c.3998A>C (p.Lys1333Thr)
c.4004A>C (p.Lys1335Thr)
c.2129A>C (p.Lys710Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.129315654A>GCA365613146LAMA2c.3734A>G (p.Lys1245Arg)
c.3998A>G (p.Lys1333Arg)
c.4004A>G (p.Lys1335Arg)
c.2129A>G (p.Lys710Arg)
6g.129315654A>TCA365613148LAMA2c.3734A>T (p.Lys1245Met)
c.3998A>T (p.Lys1333Met)
c.4004A>T (p.Lys1335Met)
c.2129A>T (p.Lys710Met)
6g.129315655G>ACA451936784LAMA2c.3735G>A (p.Lys1245=)
c.3999G>A (p.Lys1333=)
c.4005G>A (p.Lys1335=)
c.2130G>A (p.Lys710=)
 gnomAD v4
6g.129315655G>CCA365613149LAMA2c.3735G>C (p.Lys1245Asn)
c.3999G>C (p.Lys1333Asn)
c.4005G>C (p.Lys1335Asn)
c.2130G>C (p.Lys710Asn)
 gnomAD v4
6g.129315655G>TCA365613150LAMA2c.3735G>T (p.Lys1245Asn)
c.3999G>T (p.Lys1333Asn)
c.4005G>T (p.Lys1335Asn)
c.2130G>T (p.Lys710Asn)
6g.129315656G>ACA365613151LAMA2c.3735+1G>A (n.3735+1G>A)
c.3999+1G>A (n.3999+1G>A)
c.4005+1G>A (n.4005+1G>A)
c.2130+1G>A (n.2130+1G>A)
 ClinVar
6g.129315656G>CCA365613152LAMA2c.3735+1G>C (n.3735+1G>C)
c.3999+1G>C (n.3999+1G>C)
c.4005+1G>C (n.4005+1G>C)
c.2130+1G>C (n.2130+1G>C)
6g.129315656G>TCA365613153LAMA2c.3735+1G>T (n.3735+1G>T)
c.3999+1G>T (n.3999+1G>T)
c.4005+1G>T (n.4005+1G>T)
c.2130+1G>T (n.2130+1G>T)
6g.129315657T>ACA365613154LAMA2c.3735+2T>A (n.3735+2T>A)
c.3999+2T>A (n.3999+2T>A)
c.4005+2T>A (n.4005+2T>A)
c.2130+2T>A (n.2130+2T>A)
6g.129315657T>CCA365613155LAMA2c.3735+2T>C (n.3735+2T>C)
c.3999+2T>C (n.3999+2T>C)
c.4005+2T>C (n.4005+2T>C)
c.2130+2T>C (n.2130+2T>C)
6g.129315657T>GCA365613156LAMA2c.3735+2T>G (n.3735+2T>G)
c.3999+2T>G (n.3999+2T>G)
c.4005+2T>G (n.4005+2T>G)
c.2130+2T>G (n.2130+2T>G)
6g.129315659A>GCA2680313967LAMA2c.3735+4A>G (n.3735+4A>G)
c.3999+4A>G (n.3999+4A>G)
c.4005+4A>G (n.4005+4A>G)
c.2130+4A>G (n.2130+4A>G)
 gnomAD v4
6g.129315660G>ACA1663080129LAMA2c.3735+5G>A (n.3735+5G>A)
c.3999+5G>A (n.3999+5G>A)
c.4005+5G>A (n.4005+5G>A)
c.2130+5G>A (n.2130+5G>A)
 ClinVar dbSNP
6g.129315660G=CA1663080128LAMA2c.3735+5G= (n.3735+5G=)
c.3999+5G= (n.3999+5G=)
c.4005+5G= (n.4005+5G=)
c.2130+5G= (n.2130+5G=)
6g.129315661C>ACA1663080133LAMA2c.3735+6C>A (n.3735+6C>A)
c.3999+6C>A (n.3999+6C>A)
c.4005+6C>A (n.4005+6C>A)
c.2130+6C>A (n.2130+6C>A)
 dbSNP gnomAD v4
6g.129315661C=CA1663080132LAMA2c.3735+6C= (n.3735+6C=)
c.3999+6C= (n.3999+6C=)
c.4005+6C= (n.4005+6C=)
c.2130+6C= (n.2130+6C=)
6g.129315661C>GCA2773034956LAMA2c.3735+6C>G (n.3735+6C>G)
c.3999+6C>G (n.3999+6C>G)
c.4005+6C>G (n.4005+6C>G)
c.2130+6C>G (n.2130+6C>G)
6g.129315663C=CA1663080137LAMA2c.3735+8C= (n.3735+8C=)
c.3999+8C= (n.3999+8C=)
c.4005+8C= (n.4005+8C=)
c.2130+8C= (n.2130+8C=)
6g.129315663C>GCA915943609LAMA2c.3735+8C>G (n.3735+8C>G)
c.3999+8C>G (n.3999+8C>G)
c.4005+8C>G (n.4005+8C>G)
c.2130+8C>G (n.2130+8C>G)
 ClinVar dbSNP gnomAD v4
6g.129315663C>TCA2578737114LAMA2c.3735+8C>T (n.3735+8C>T)
c.3999+8C>T (n.3999+8C>T)
c.4005+8C>T (n.4005+8C>T)
c.2130+8C>T (n.2130+8C>T)
 ClinVar gnomAD v4
6g.129315668_129315669delinsACCA1663080148LAMA2c.3735+13_3735+14delinsAC (n.3735+13_3735+14delinsAC)
c.3999+13_3999+14delinsAC (n.3999+13_3999+14delinsAC)
c.4005+13_4005+14delinsAC (n.4005+13_4005+14delinsAC)
c.2130+13_2130+14delinsAC (n.2130+13_2130+14delinsAC)
6g.129315669delCA570205609LAMA2c.3735+14del (n.3735+14del)
c.3999+14del (n.3999+14del)
c.4005+14del (n.4005+14del)
c.2130+14del (n.2130+14del)
 dbSNP gnomAD v2 gnomAD v4
6g.129315669C>ACA2680313968LAMA2c.3735+14C>A (n.3735+14C>A)
c.3999+14C>A (n.3999+14C>A)
c.4005+14C>A (n.4005+14C>A)
c.2130+14C>A (n.2130+14C>A)
 ClinVar gnomAD v4
6g.129315676_129315698delCA2680313969LAMA2c.3735+21_3735+43del (n.3735+21_3735+43del)
c.3999+21_3999+43del (n.3999+21_3999+43del)
c.4005+21_4005+43del (n.4005+21_4005+43del)
c.2130+21_2130+43del (n.2130+21_2130+43del)
 gnomAD v4
6g.129315674A=CA1663080153LAMA2c.3735+19A= (n.3735+19A=)
c.3999+19A= (n.3999+19A=)
c.4005+19A= (n.4005+19A=)
c.2130+19A= (n.2130+19A=)
6g.129315674A>GCA1094390931LAMA2c.3735+19A>G (n.3735+19A>G)
c.3999+19A>G (n.3999+19A>G)
c.4005+19A>G (n.4005+19A>G)
c.2130+19A>G (n.2130+19A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315675delCA2680313970LAMA2c.3735+20del (n.3735+20del)
c.3999+20del (n.3999+20del)
c.4005+20del (n.4005+20del)
c.2130+20del (n.2130+20del)
 gnomAD v4
6g.129315676G>ACA3993337LAMA2c.3735+21G>A (n.3735+21G>A)
c.3999+21G>A (n.3999+21G>A)
c.4005+21G>A (n.4005+21G>A)
c.2130+21G>A (n.2130+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315676G=CA1663080154LAMA2c.3735+21G= (n.3735+21G=)
c.3999+21G= (n.3999+21G=)
c.4005+21G= (n.4005+21G=)
c.2130+21G= (n.2130+21G=)
6g.129315677T>CCA2680313971LAMA2c.3735+22T>C (n.3735+22T>C)
c.3999+22T>C (n.3999+22T>C)
c.4005+22T>C (n.4005+22T>C)
c.2130+22T>C (n.2130+22T>C)
 gnomAD v4
6g.129315678C=CA1663080157LAMA2c.3735+23C= (n.3735+23C=)
c.3999+23C= (n.3999+23C=)
c.4005+23C= (n.4005+23C=)
c.2130+23C= (n.2130+23C=)
6g.129315678C>TCA3993338LAMA2c.3735+23C>T (n.3735+23C>T)
c.3999+23C>T (n.3999+23C>T)
c.4005+23C>T (n.4005+23C>T)
c.2130+23C>T (n.2130+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315679A=CA1663080159LAMA2c.3735+24A= (n.3735+24A=)
c.3999+24A= (n.3999+24A=)
c.4005+24A= (n.4005+24A=)
c.2130+24A= (n.2130+24A=)
6g.129315679A>CCA2680313972LAMA2c.3735+24A>C (n.3735+24A>C)
c.3999+24A>C (n.3999+24A>C)
c.4005+24A>C (n.4005+24A>C)
c.2130+24A>C (n.2130+24A>C)
 gnomAD v4
6g.129315679A>GCA1663080161LAMA2c.3735+24A>G (n.3735+24A>G)
c.3999+24A>G (n.3999+24A>G)
c.4005+24A>G (n.4005+24A>G)
c.2130+24A>G (n.2130+24A>G)
 dbSNP
6g.129315681G>ACA1663080165LAMA2c.3735+26G>A (n.3735+26G>A)
c.3999+26G>A (n.3999+26G>A)
c.4005+26G>A (n.4005+26G>A)
c.2130+26G>A (n.2130+26G>A)
 dbSNP gnomAD v4
6g.129315681G=CA1663080163LAMA2c.3735+26G= (n.3735+26G=)
c.3999+26G= (n.3999+26G=)
c.4005+26G= (n.4005+26G=)
c.2130+26G= (n.2130+26G=)
6g.129315683G>ACA3993339LAMA2c.3735+28G>A (n.3735+28G>A)
c.3999+28G>A (n.3999+28G>A)
c.4005+28G>A (n.4005+28G>A)
c.2130+28G>A (n.2130+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315683G=CA1663080168LAMA2c.3735+28G= (n.3735+28G=)
c.3999+28G= (n.3999+28G=)
c.4005+28G= (n.4005+28G=)
c.2130+28G= (n.2130+28G=)
6g.129315684A=CA1663080170LAMA2c.3735+29A= (n.3735+29A=)
c.3999+29A= (n.3999+29A=)
c.4005+29A= (n.4005+29A=)
c.2130+29A= (n.2130+29A=)
6g.129315684A>CCA3993340LAMA2c.3735+29A>C (n.3735+29A>C)
c.3999+29A>C (n.3999+29A>C)
c.4005+29A>C (n.4005+29A>C)
c.2130+29A>C (n.2130+29A>C)
 dbSNP ExAC gnomAD v2
6g.129315685G>ACA3993341LAMA2c.3735+30G>A (n.3735+30G>A)
c.3999+30G>A (n.3999+30G>A)
c.4005+30G>A (n.4005+30G>A)
c.2130+30G>A (n.2130+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315685G=CA1663080181LAMA2c.3735+30G= (n.3735+30G=)
c.3999+30G= (n.3999+30G=)
c.4005+30G= (n.4005+30G=)
c.2130+30G= (n.2130+30G=)
6g.129315686A=CA1663080184LAMA2c.3735+31A= (n.3735+31A=)
c.3999+31A= (n.3999+31A=)
c.4005+31A= (n.4005+31A=)
c.2130+31A= (n.2130+31A=)
6g.129315686A>GCA1663080187LAMA2c.3735+31A>G (n.3735+31A>G)
c.3999+31A>G (n.3999+31A>G)
c.4005+31A>G (n.4005+31A>G)
c.2130+31A>G (n.2130+31A>G)
 dbSNP gnomAD v4
6g.129315688C>TCA2680313973LAMA2c.3735+33C>T (n.3735+33C>T)
c.3999+33C>T (n.3999+33C>T)
c.4005+33C>T (n.4005+33C>T)
c.2130+33C>T (n.2130+33C>T)
 gnomAD v4
6g.129315689A>GCA2680313974LAMA2c.3735+34A>G (n.3735+34A>G)
c.3999+34A>G (n.3999+34A>G)
c.4005+34A>G (n.4005+34A>G)
c.2130+34A>G (n.2130+34A>G)
 gnomAD v4
6g.129315690A>CCA2680313975LAMA2c.3735+35A>C (n.3735+35A>C)
c.3999+35A>C (n.3999+35A>C)
c.4005+35A>C (n.4005+35A>C)
c.2130+35A>C (n.2130+35A>C)
 gnomAD v4
6g.129315691G>ACA3993342LAMA2c.3735+36G>A (n.3735+36G>A)
c.3999+36G>A (n.3999+36G>A)
c.4005+36G>A (n.4005+36G>A)
c.2130+36G>A (n.2130+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315691G=CA1663080190LAMA2c.3735+36G= (n.3735+36G=)
c.3999+36G= (n.3999+36G=)
c.4005+36G= (n.4005+36G=)
c.2130+36G= (n.2130+36G=)
6g.129315692A=CA1663080192LAMA2c.3735+37A= (n.3735+37A=)
c.3999+37A= (n.3999+37A=)
c.4005+37A= (n.4005+37A=)
c.2130+37A= (n.2130+37A=)
6g.129315692A>GCA570205610LAMA2c.3735+37A>G (n.3735+37A>G)
c.3999+37A>G (n.3999+37A>G)
c.4005+37A>G (n.4005+37A>G)
c.2130+37A>G (n.2130+37A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.129315692A>TCA2680313976LAMA2c.3735+37A>T (n.3735+37A>T)
c.3999+37A>T (n.3999+37A>T)
c.4005+37A>T (n.4005+37A>T)
c.2130+37A>T (n.2130+37A>T)
 gnomAD v4
6g.129315693T>ACA2773034957LAMA2c.3735+38T>A (n.3735+38T>A)
c.3999+38T>A (n.3999+38T>A)
c.4005+38T>A (n.4005+38T>A)
c.2130+38T>A (n.2130+38T>A)
6g.129315693T>CCA3993344LAMA2c.3735+38T>C (n.3735+38T>C)
c.3999+38T>C (n.3999+38T>C)
c.4005+38T>C (n.4005+38T>C)
c.2130+38T>C (n.2130+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315693T>GCA2680313977LAMA2c.3735+38T>G (n.3735+38T>G)
c.3999+38T>G (n.3999+38T>G)
c.4005+38T>G (n.4005+38T>G)
c.2130+38T>G (n.2130+38T>G)
 gnomAD v4
6g.129315693T=CA1663080196LAMA2c.3735+38T= (n.3735+38T=)
c.3999+38T= (n.3999+38T=)
c.4005+38T= (n.4005+38T=)
c.2130+38T= (n.2130+38T=)
6g.129315694A=CA1663080199LAMA2c.3735+39A= (n.3735+39A=)
c.3999+39A= (n.3999+39A=)
c.4005+39A= (n.4005+39A=)
c.2130+39A= (n.2130+39A=)
6g.129315694A>GCA1663080201LAMA2c.3735+39A>G (n.3735+39A>G)
c.3999+39A>G (n.3999+39A>G)
c.4005+39A>G (n.4005+39A>G)
c.2130+39A>G (n.2130+39A>G)
 dbSNP gnomAD v4
6g.129315697dupCA3993343LAMA2c.3735+42dup (n.3735+42dup)
c.3999+42dup (n.3999+42dup)
c.4005+42dup (n.4005+42dup)
c.2130+42dup (n.2130+42dup)
 dbSNP ExAC gnomAD v2
6g.129315694_129315695insCCCCAAACACACCCAACACCA2773034958LAMA2c.3735+39_3735+40insCCCCAAACACACCCAACAC (n.3735+39_3735+40insCCCCAAACACACCCAACAC)
c.3999+39_3999+40insCCCCAAACACACCCAACAC (n.3999+39_3999+40insCCCCAAACACACCCAACAC)
c.4005+39_4005+40insCCCCAAACACACCCAACAC (n.4005+39_4005+40insCCCCAAACACACCCAACAC)
c.2130+39_2130+40insCCCCAAACACACCCAACAC (n.2130+39_2130+40insCCCCAAACACACCCAACAC)

Number of alleles fetched