Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129464290_129464296delCA818843626LAMA2c.6993_6999del
c.7257_7263del
n.624_630del
n.332_338del
c.6990_6996del
c.7251_7257del
c.7263_7269del
c.5388_5394del
 ClinVar gnomAD v4
6g.129464288_129464451delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTCA1663191420LAMA2c.6993-2_7154delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7257-2_7418delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
n.624-2_785delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
n.332-2_493delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.6990-2_7151delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7251-2_7412delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7263-2_7424delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.5388-2_5549delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
6g.129464290_129464452delCA10588988LAMA2c.6993_7155del
c.7257_7419del
n.624_786del
n.332_494del
c.6990_7152del
c.7251_7413del
c.7263_7425del
c.5388_5550del
 ClinVar dbSNP
6g.129464290T>ACA365619831LAMA2c.6993T>A (p.Ser2331Arg)
c.7257T>A (p.Ser2419Arg)
n.624T>A
n.332T>A
c.6990T>A (p.Ser2330Arg)
c.7251T>A (p.Ser2417Arg)
c.7263T>A (p.Ser2421Arg)
c.5388T>A (p.Ser1796Arg)
6g.129464290T>CCA451925551LAMA2c.6993T>C (p.Ser2331=)
c.7257T>C (p.Ser2419=)
n.624T>C
n.332T>C
c.6990T>C (p.Ser2330=)
c.7251T>C (p.Ser2417=)
c.7263T>C (p.Ser2421=)
c.5388T>C (p.Ser1796=)
6g.129464290T>GCA365619832LAMA2c.6993T>G (p.Ser2331Arg)
c.7257T>G (p.Ser2419Arg)
n.624T>G
n.332T>G
c.6990T>G (p.Ser2330Arg)
c.7251T>G (p.Ser2417Arg)
c.7263T>G (p.Ser2421Arg)
c.5388T>G (p.Ser1796Arg)
6g.129464292_129464294delCA2680307427LAMA2c.6995_6997del (p.Pro2332del)
c.7259_7261del (p.Pro2420del)
n.626_628del
n.334_336del
c.6992_6994del (p.Pro2331del)
c.7253_7255del (p.Pro2418del)
c.7265_7267del (p.Pro2422del)
c.5390_5392del (p.Pro1797del)
 gnomAD v4
6g.129464291C>ACA365619833LAMA2c.6994C>A (p.Pro2332Thr)
c.7258C>A (p.Pro2420Thr)
n.625C>A
n.333C>A
c.6991C>A (p.Pro2331Thr)
c.7252C>A (p.Pro2418Thr)
c.7264C>A (p.Pro2422Thr)
c.5389C>A (p.Pro1797Thr)
 gnomAD v4
6g.129464291C>GCA365619835LAMA2c.6994C>G (p.Pro2332Ala)
c.7258C>G (p.Pro2420Ala)
n.625C>G
n.333C>G
c.6991C>G (p.Pro2331Ala)
c.7252C>G (p.Pro2418Ala)
c.7264C>G (p.Pro2422Ala)
c.5389C>G (p.Pro1797Ala)
6g.129464291C>TCA365619837LAMA2c.6994C>T (p.Pro2332Ser)
c.7258C>T (p.Pro2420Ser)
n.625C>T
n.333C>T
c.6991C>T (p.Pro2331Ser)
c.7252C>T (p.Pro2418Ser)
c.7264C>T (p.Pro2422Ser)
c.5389C>T (p.Pro1797Ser)
6g.129464292delCA2695206951LAMA2c.6995del (p.Pro2332LeufsTer?)
c.7259del (p.Pro2420LeufsTer?)
n.626del
n.334del
c.6992del (p.Pro2331LeufsTer?)
c.7253del (p.Pro2418LeufsTer?)
c.7265del (p.Pro2422LeufsTer?)
c.5390del (p.Pro1797LeufsTer?)
6g.129464292C>ACA365619843LAMA2c.6995C>A (p.Pro2332His)
c.7259C>A (p.Pro2420His)
n.626C>A
n.334C>A
c.6992C>A (p.Pro2331His)
c.7253C>A (p.Pro2418His)
c.7265C>A (p.Pro2422His)
c.5390C>A (p.Pro1797His)
6g.129464292C=CA1663191428LAMA2c.6995C= (p.Pro2332=)
c.7259C= (p.Pro2420=)
n.626C=
n.334C=
c.6992C= (p.Pro2331=)
c.7253C= (p.Pro2418=)
c.7265C= (p.Pro2422=)
c.5390C= (p.Pro1797=)
6g.129464292C>GCA365619839LAMA2c.6995C>G (p.Pro2332Arg)
c.7259C>G (p.Pro2420Arg)
n.626C>G
n.334C>G
c.6992C>G (p.Pro2331Arg)
c.7253C>G (p.Pro2418Arg)
c.7265C>G (p.Pro2422Arg)
c.5390C>G (p.Pro1797Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129464292C>TCA365619840LAMA2c.6995C>T (p.Pro2332Leu)
c.7259C>T (p.Pro2420Leu)
n.626C>T
n.334C>T
c.6992C>T (p.Pro2331Leu)
c.7253C>T (p.Pro2418Leu)
c.7265C>T (p.Pro2422Leu)
c.5390C>T (p.Pro1797Leu)
 dbSNP gnomAD v4
6g.129464293T>ACA3994417LAMA2c.6996T>A (p.Pro2332=)
c.7260T>A (p.Pro2420=)
n.627T>A
n.335T>A
c.6993T>A (p.Pro2331=)
c.7254T>A (p.Pro2418=)
c.7266T>A (p.Pro2422=)
c.5391T>A (p.Pro1797=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464293T>CCA451925570LAMA2c.6996T>C (p.Pro2332=)
c.7260T>C (p.Pro2420=)
n.627T>C
n.335T>C
c.6993T>C (p.Pro2331=)
c.7254T>C (p.Pro2418=)
c.7266T>C (p.Pro2422=)
c.5391T>C (p.Pro1797=)
6g.129464293T>GCA451925571LAMA2c.6996T>G (p.Pro2332=)
c.7260T>G (p.Pro2420=)
n.627T>G
n.335T>G
c.6993T>G (p.Pro2331=)
c.7254T>G (p.Pro2418=)
c.7266T>G (p.Pro2422=)
c.5391T>G (p.Pro1797=)
6g.129464293T=CA1663191431LAMA2c.6996T= (p.Pro2332=)
c.7260T= (p.Pro2420=)
n.627T=
n.335T=
c.6993T= (p.Pro2331=)
c.7254T= (p.Pro2418=)
c.7266T= (p.Pro2422=)
c.5391T= (p.Pro1797=)
6g.129464294C>ACA365619847LAMA2c.6997C>A (p.Gln2333Lys)
c.7261C>A (p.Gln2421Lys)
n.628C>A
n.336C>A
c.6994C>A (p.Gln2332Lys)
c.7255C>A (p.Gln2419Lys)
c.7267C>A (p.Gln2423Lys)
c.5392C>A (p.Gln1798Lys)
6g.129464294C=CA1663191435LAMA2c.6997C= (p.Gln2333=)
c.7261C= (p.Gln2421=)
n.628C=
n.336C=
c.6994C= (p.Gln2332=)
c.7255C= (p.Gln2419=)
c.7267C= (p.Gln2423=)
c.5392C= (p.Gln1798=)
6g.129464294C>GCA3994418LAMA2c.6997C>G (p.Gln2333Glu)
c.7261C>G (p.Gln2421Glu)
n.628C>G
n.336C>G
c.6994C>G (p.Gln2332Glu)
c.7255C>G (p.Gln2419Glu)
c.7267C>G (p.Gln2423Glu)
c.5392C>G (p.Gln1798Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464294C>TCA365619850LAMA2c.6997C>T (p.Gln2333Ter)
c.7261C>T (p.Gln2421Ter)
n.628C>T
n.336C>T
c.6994C>T (p.Gln2332Ter)
c.7255C>T (p.Gln2419Ter)
c.7267C>T (p.Gln2423Ter)
c.5392C>T (p.Gln1798Ter)
6g.129464295A=CA1663191437LAMA2c.6998A= (p.Gln2333=)
c.7262A= (p.Gln2421=)
n.629A=
n.337A=
c.6995A= (p.Gln2332=)
c.7256A= (p.Gln2419=)
c.7268A= (p.Gln2423=)
c.5393A= (p.Gln1798=)
6g.129464295A>CCA365619852LAMA2c.6998A>C (p.Gln2333Pro)
c.7262A>C (p.Gln2421Pro)
n.629A>C
n.337A>C
c.6995A>C (p.Gln2332Pro)
c.7256A>C (p.Gln2419Pro)
c.7268A>C (p.Gln2423Pro)
c.5393A>C (p.Gln1798Pro)
6g.129464295A>GCA146891258LAMA2c.6998A>G (p.Gln2333Arg)
c.7262A>G (p.Gln2421Arg)
n.629A>G
n.337A>G
c.6995A>G (p.Gln2332Arg)
c.7256A>G (p.Gln2419Arg)
c.7268A>G (p.Gln2423Arg)
c.5393A>G (p.Gln1798Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129464295A>TCA365619855LAMA2c.6998A>T (p.Gln2333Leu)
c.7262A>T (p.Gln2421Leu)
n.629A>T
n.337A>T
c.6995A>T (p.Gln2332Leu)
c.7256A>T (p.Gln2419Leu)
c.7268A>T (p.Gln2423Leu)
c.5393A>T (p.Gln1798Leu)
6g.129464296G>ACA451925578LAMA2c.6999G>A (p.Gln2333=)
c.7263G>A (p.Gln2421=)
n.630G>A
n.338G>A
c.6996G>A (p.Gln2332=)
c.7257G>A (p.Gln2419=)
c.7269G>A (p.Gln2423=)
c.5394G>A (p.Gln1798=)
 ClinVar dbSNP
6g.129464296G>CCA365619859LAMA2c.6999G>C (p.Gln2333His)
c.7263G>C (p.Gln2421His)
n.630G>C
n.338G>C
c.6996G>C (p.Gln2332His)
c.7257G>C (p.Gln2419His)
c.7269G>C (p.Gln2423His)
c.5394G>C (p.Gln1798His)
6g.129464296G=CA1663191441LAMA2c.6999G= (p.Gln2333=)
c.7263G= (p.Gln2421=)
n.630G=
n.338G=
c.6996G= (p.Gln2332=)
c.7257G= (p.Gln2419=)
c.7269G= (p.Gln2423=)
c.5394G= (p.Gln1798=)
6g.129464296G>TCA365619861LAMA2c.6999G>T (p.Gln2333His)
c.7263G>T (p.Gln2421His)
n.630G>T
n.338G>T
c.6996G>T (p.Gln2332His)
c.7257G>T (p.Gln2419His)
c.7269G>T (p.Gln2423His)
c.5394G>T (p.Gln1798His)
6g.129464297G>ACA365619863LAMA2c.7000G>A (p.Val2334Met)
c.7264G>A (p.Val2422Met)
n.631G>A
n.339G>A
c.6997G>A (p.Val2333Met)
c.7258G>A (p.Val2420Met)
c.7270G>A (p.Val2424Met)
c.5395G>A (p.Val1799Met)
 gnomAD v4
6g.129464297G>CCA365619865LAMA2c.7000G>C (p.Val2334Leu)
c.7264G>C (p.Val2422Leu)
n.631G>C
n.339G>C
c.6997G>C (p.Val2333Leu)
c.7258G>C (p.Val2420Leu)
c.7270G>C (p.Val2424Leu)
c.5395G>C (p.Val1799Leu)
6g.129464297G>TCA365619868LAMA2c.7000G>T (p.Val2334Leu)
c.7264G>T (p.Val2422Leu)
n.631G>T
n.339G>T
c.6997G>T (p.Val2333Leu)
c.7258G>T (p.Val2420Leu)
c.7270G>T (p.Val2424Leu)
c.5395G>T (p.Val1799Leu)
6g.129464298T>ACA365619873LAMA2c.7001T>A (p.Val2334Glu)
c.7265T>A (p.Val2422Glu)
n.632T>A
n.340T>A
c.6998T>A (p.Val2333Glu)
c.7259T>A (p.Val2420Glu)
c.7271T>A (p.Val2424Glu)
c.5396T>A (p.Val1799Glu)
6g.129464298T>CCA365619874LAMA2c.7001T>C (p.Val2334Ala)
c.7265T>C (p.Val2422Ala)
n.632T>C
n.340T>C
c.6998T>C (p.Val2333Ala)
c.7259T>C (p.Val2420Ala)
c.7271T>C (p.Val2424Ala)
c.5396T>C (p.Val1799Ala)
6g.129464298T>GCA365619870LAMA2c.7001T>G (p.Val2334Gly)
c.7265T>G (p.Val2422Gly)
n.632T>G
n.340T>G
c.6998T>G (p.Val2333Gly)
c.7259T>G (p.Val2420Gly)
c.7271T>G (p.Val2424Gly)
c.5396T>G (p.Val1799Gly)
6g.129464299G>ACA451925592LAMA2c.7002G>A (p.Val2334=)
c.7266G>A (p.Val2422=)
n.633G>A
n.341G>A
c.6999G>A (p.Val2333=)
c.7260G>A (p.Val2420=)
c.7272G>A (p.Val2424=)
c.5397G>A (p.Val1799=)
 ClinVar
6g.129464299G>CCA451925595LAMA2c.7002G>C (p.Val2334=)
c.7266G>C (p.Val2422=)
n.633G>C
n.341G>C
c.6999G>C (p.Val2333=)
c.7260G>C (p.Val2420=)
c.7272G>C (p.Val2424=)
c.5397G>C (p.Val1799=)
6g.129464299G>TCA451925599LAMA2c.7002G>T (p.Val2334=)
c.7266G>T (p.Val2422=)
n.633G>T
n.341G>T
c.6999G>T (p.Val2333=)
c.7260G>T (p.Val2420=)
c.7272G>T (p.Val2424=)
c.5397G>T (p.Val1799=)
6g.129464300delCA2695198335LAMA2c.7003del (p.Glu2335LysfsTer?)
c.7267del (p.Glu2423LysfsTer?)
n.634del
n.342del
c.7000del (p.Glu2334LysfsTer?)
c.7261del (p.Glu2421LysfsTer?)
c.7273del (p.Glu2425LysfsTer?)
c.5398del (p.Glu1800LysfsTer?)
 ClinVar
6g.129464300G>ACA146891259LAMA2c.7003G>A (p.Glu2335Lys)
c.7267G>A (p.Glu2423Lys)
n.634G>A
n.342G>A
c.7000G>A (p.Glu2334Lys)
c.7261G>A (p.Glu2421Lys)
c.7273G>A (p.Glu2425Lys)
c.5398G>A (p.Glu1800Lys)
 dbSNP COSMIC
6g.129464300G>CCA365619876LAMA2c.7003G>C (p.Glu2335Gln)
c.7267G>C (p.Glu2423Gln)
n.634G>C
n.342G>C
c.7000G>C (p.Glu2334Gln)
c.7261G>C (p.Glu2421Gln)
c.7273G>C (p.Glu2425Gln)
c.5398G>C (p.Glu1800Gln)
6g.129464300G=CA1663191442LAMA2c.7003G= (p.Glu2335=)
c.7267G= (p.Glu2423=)
n.634G=
n.342G=
c.7000G= (p.Glu2334=)
c.7261G= (p.Glu2421=)
c.7273G= (p.Glu2425=)
c.5398G= (p.Glu1800=)
6g.129464300G>TCA365619879LAMA2c.7003G>T (p.Glu2335Ter)
c.7267G>T (p.Glu2423Ter)
n.634G>T
n.342G>T
c.7000G>T (p.Glu2334Ter)
c.7261G>T (p.Glu2421Ter)
c.7273G>T (p.Glu2425Ter)
c.5398G>T (p.Glu1800Ter)
6g.129464301A>CCA365619881LAMA2c.7004A>C (p.Glu2335Ala)
c.7268A>C (p.Glu2423Ala)
n.635A>C
n.343A>C
c.7001A>C (p.Glu2334Ala)
c.7262A>C (p.Glu2421Ala)
c.7274A>C (p.Glu2425Ala)
c.5399A>C (p.Glu1800Ala)
6g.129464301A>GCA365619883LAMA2c.7004A>G (p.Glu2335Gly)
c.7268A>G (p.Glu2423Gly)
n.635A>G
n.343A>G
c.7001A>G (p.Glu2334Gly)
c.7262A>G (p.Glu2421Gly)
c.7274A>G (p.Glu2425Gly)
c.5399A>G (p.Glu1800Gly)
6g.129464301A>TCA365619885LAMA2c.7004A>T (p.Glu2335Val)
c.7268A>T (p.Glu2423Val)
n.635A>T
n.343A>T
c.7001A>T (p.Glu2334Val)
c.7262A>T (p.Glu2421Val)
c.7274A>T (p.Glu2425Val)
c.5399A>T (p.Glu1800Val)
6g.129464302A>CCA365619888LAMA2c.7005A>C (p.Glu2335Asp)
c.7269A>C (p.Glu2423Asp)
n.636A>C
n.344A>C
c.7002A>C (p.Glu2334Asp)
c.7263A>C (p.Glu2421Asp)
c.7275A>C (p.Glu2425Asp)
c.5400A>C (p.Glu1800Asp)
6g.129464302A>GCA451925614LAMA2c.7005A>G (p.Glu2335=)
c.7269A>G (p.Glu2423=)
n.636A>G
n.344A>G
c.7002A>G (p.Glu2334=)
c.7263A>G (p.Glu2421=)
c.7275A>G (p.Glu2425=)
c.5400A>G (p.Glu1800=)
 ClinVar gnomAD v4
6g.129464302A>TCA365619890LAMA2c.7005A>T (p.Glu2335Asp)
c.7269A>T (p.Glu2423Asp)
n.636A>T
n.344A>T
c.7002A>T (p.Glu2334Asp)
c.7263A>T (p.Glu2421Asp)
c.7275A>T (p.Glu2425Asp)
c.5400A>T (p.Glu1800Asp)
6g.129464303G>ACA365619892LAMA2c.7006G>A (p.Asp2336Asn)
c.7270G>A (p.Asp2424Asn)
n.637G>A
n.345G>A
c.7003G>A (p.Asp2335Asn)
c.7264G>A (p.Asp2422Asn)
c.7276G>A (p.Asp2426Asn)
c.5401G>A (p.Asp1801Asn)
6g.129464303G>CCA365619895LAMA2c.7006G>C (p.Asp2336His)
c.7270G>C (p.Asp2424His)
n.637G>C
n.345G>C
c.7003G>C (p.Asp2335His)
c.7264G>C (p.Asp2422His)
c.7276G>C (p.Asp2426His)
c.5401G>C (p.Asp1801His)
6g.129464303G>TCA365619897LAMA2c.7006G>T (p.Asp2336Tyr)
c.7270G>T (p.Asp2424Tyr)
n.637G>T
n.345G>T
c.7003G>T (p.Asp2335Tyr)
c.7264G>T (p.Asp2422Tyr)
c.7276G>T (p.Asp2426Tyr)
c.5401G>T (p.Asp1801Tyr)
 COSMIC
6g.129464304A>CCA365619899LAMA2c.7007A>C (p.Asp2336Ala)
c.7271A>C (p.Asp2424Ala)
n.638A>C
n.346A>C
c.7004A>C (p.Asp2335Ala)
c.7265A>C (p.Asp2422Ala)
c.7277A>C (p.Asp2426Ala)
c.5402A>C (p.Asp1801Ala)
6g.129464304A>GCA365619902LAMA2c.7007A>G (p.Asp2336Gly)
c.7271A>G (p.Asp2424Gly)
n.638A>G
n.346A>G
c.7004A>G (p.Asp2335Gly)
c.7265A>G (p.Asp2422Gly)
c.7277A>G (p.Asp2426Gly)
c.5402A>G (p.Asp1801Gly)
6g.129464304A>TCA365619906LAMA2c.7007A>T (p.Asp2336Val)
c.7271A>T (p.Asp2424Val)
n.638A>T
n.346A>T
c.7004A>T (p.Asp2335Val)
c.7265A>T (p.Asp2422Val)
c.7277A>T (p.Asp2426Val)
c.5402A>T (p.Asp1801Val)
6g.129464305T>ACA365619911LAMA2c.7008T>A (p.Asp2336Glu)
c.7272T>A (p.Asp2424Glu)
n.639T>A
n.347T>A
c.7005T>A (p.Asp2335Glu)
c.7266T>A (p.Asp2422Glu)
c.7278T>A (p.Asp2426Glu)
c.5403T>A (p.Asp1801Glu)
6g.129464305T>CCA3994419LAMA2c.7008T>C (p.Asp2336=)
c.7272T>C (p.Asp2424=)
n.639T>C
n.347T>C
c.7005T>C (p.Asp2335=)
c.7266T>C (p.Asp2422=)
c.7278T>C (p.Asp2426=)
c.5403T>C (p.Asp1801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464305T>GCA365619915LAMA2c.7008T>G (p.Asp2336Glu)
c.7272T>G (p.Asp2424Glu)
n.639T>G
n.347T>G
c.7005T>G (p.Asp2335Glu)
c.7266T>G (p.Asp2422Glu)
c.7278T>G (p.Asp2426Glu)
c.5403T>G (p.Asp1801Glu)
6g.129464305T=CA1663191445LAMA2c.7008T= (p.Asp2336=)
c.7272T= (p.Asp2424=)
n.639T=
n.347T=
c.7005T= (p.Asp2335=)
c.7266T= (p.Asp2422=)
c.7278T= (p.Asp2426=)
c.5403T= (p.Asp1801=)
6g.129464306A>CCA365619920LAMA2c.7009A>C (p.Ser2337Arg)
c.7273A>C (p.Ser2425Arg)
n.640A>C
n.348A>C
c.7006A>C (p.Ser2336Arg)
c.7267A>C (p.Ser2423Arg)
c.7279A>C (p.Ser2427Arg)
c.5404A>C (p.Ser1802Arg)
6g.129464306A>GCA365619929LAMA2c.7009A>G (p.Ser2337Gly)
c.7273A>G (p.Ser2425Gly)
n.640A>G
n.348A>G
c.7006A>G (p.Ser2336Gly)
c.7267A>G (p.Ser2423Gly)
c.7279A>G (p.Ser2427Gly)
c.5404A>G (p.Ser1802Gly)
 gnomAD v4
6g.129464306A>TCA365619932LAMA2c.7009A>T (p.Ser2337Cys)
c.7273A>T (p.Ser2425Cys)
n.640A>T
n.348A>T
c.7006A>T (p.Ser2336Cys)
c.7267A>T (p.Ser2423Cys)
c.7279A>T (p.Ser2427Cys)
c.5404A>T (p.Ser1802Cys)
6g.129464307G>ACA365619935LAMA2c.7010G>A (p.Ser2337Asn)
c.7274G>A (p.Ser2425Asn)
n.641G>A
n.349G>A
c.7007G>A (p.Ser2336Asn)
c.7268G>A (p.Ser2423Asn)
c.7280G>A (p.Ser2427Asn)
c.5405G>A (p.Ser1802Asn)
 dbSNP
6g.129464307G>CCA365619938LAMA2c.7010G>C (p.Ser2337Thr)
c.7274G>C (p.Ser2425Thr)
n.641G>C
n.349G>C
c.7007G>C (p.Ser2336Thr)
c.7268G>C (p.Ser2423Thr)
c.7280G>C (p.Ser2427Thr)
c.5405G>C (p.Ser1802Thr)
6g.129464307G=CA1663191449LAMA2c.7010G= (p.Ser2337=)
c.7274G= (p.Ser2425=)
n.641G=
n.349G=
c.7007G= (p.Ser2336=)
c.7268G= (p.Ser2423=)
c.7280G= (p.Ser2427=)
c.5405G= (p.Ser1802=)
6g.129464307G>TCA365619941LAMA2c.7010G>T (p.Ser2337Ile)
c.7274G>T (p.Ser2425Ile)
n.641G>T
n.349G>T
c.7007G>T (p.Ser2336Ile)
c.7268G>T (p.Ser2423Ile)
c.7280G>T (p.Ser2427Ile)
c.5405G>T (p.Ser1802Ile)
6g.129464308T>ACA365619943LAMA2c.7011T>A (p.Ser2337Arg)
c.7275T>A (p.Ser2425Arg)
n.642T>A
n.350T>A
c.7008T>A (p.Ser2336Arg)
c.7269T>A (p.Ser2423Arg)
c.7281T>A (p.Ser2427Arg)
c.5406T>A (p.Ser1802Arg)
6g.129464308T>CCA451925642LAMA2c.7011T>C (p.Ser2337=)
c.7275T>C (p.Ser2425=)
n.642T>C
n.350T>C
c.7008T>C (p.Ser2336=)
c.7269T>C (p.Ser2423=)
c.7281T>C (p.Ser2427=)
c.5406T>C (p.Ser1802=)
6g.129464308T>GCA365619944LAMA2c.7011T>G (p.Ser2337Arg)
c.7275T>G (p.Ser2425Arg)
n.642T>G
n.350T>G
c.7008T>G (p.Ser2336Arg)
c.7269T>G (p.Ser2423Arg)
c.7281T>G (p.Ser2427Arg)
c.5406T>G (p.Ser1802Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.129464308T=CA1663191451LAMA2c.7011T= (p.Ser2337=)
c.7275T= (p.Ser2425=)
n.642T=
n.350T=
c.7008T= (p.Ser2336=)
c.7269T= (p.Ser2423=)
c.7281T= (p.Ser2427=)
c.5406T= (p.Ser1802=)
6g.129464309G>ACA3994420LAMA2c.7012G>A (p.Glu2338Lys)
c.7276G>A (p.Glu2426Lys)
n.643G>A
n.351G>A
c.7009G>A (p.Glu2337Lys)
c.7270G>A (p.Glu2424Lys)
c.7282G>A (p.Glu2428Lys)
c.5407G>A (p.Glu1803Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464309G>CCA365619945LAMA2c.7012G>C (p.Glu2338Gln)
c.7276G>C (p.Glu2426Gln)
n.643G>C
n.351G>C
c.7009G>C (p.Glu2337Gln)
c.7270G>C (p.Glu2424Gln)
c.7282G>C (p.Glu2428Gln)
c.5407G>C (p.Glu1803Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.129464309G=CA1663191453LAMA2c.7012G= (p.Glu2338=)
c.7276G= (p.Glu2426=)
n.643G=
n.351G=
c.7009G= (p.Glu2337=)
c.7270G= (p.Glu2424=)
c.7282G= (p.Glu2428=)
c.5407G= (p.Glu1803=)
6g.129464309G>TCA365619947LAMA2c.7012G>T (p.Glu2338Ter)
c.7276G>T (p.Glu2426Ter)
n.643G>T
n.351G>T
c.7009G>T (p.Glu2337Ter)
c.7270G>T (p.Glu2424Ter)
c.7282G>T (p.Glu2428Ter)
c.5407G>T (p.Glu1803Ter)
6g.129464310A>CCA365619952LAMA2c.7013A>C (p.Glu2338Ala)
c.7277A>C (p.Glu2426Ala)
n.644A>C
n.352A>C
c.7010A>C (p.Glu2337Ala)
c.7271A>C (p.Glu2424Ala)
c.7283A>C (p.Glu2428Ala)
c.5408A>C (p.Glu1803Ala)
6g.129464310A>GCA365619953LAMA2c.7013A>G (p.Glu2338Gly)
c.7277A>G (p.Glu2426Gly)
n.644A>G
n.352A>G
c.7010A>G (p.Glu2337Gly)
c.7271A>G (p.Glu2424Gly)
c.7283A>G (p.Glu2428Gly)
c.5408A>G (p.Glu1803Gly)
 gnomAD v4
6g.129464310A>TCA365619949LAMA2c.7013A>T (p.Glu2338Val)
c.7277A>T (p.Glu2426Val)
n.644A>T
n.352A>T
c.7010A>T (p.Glu2337Val)
c.7271A>T (p.Glu2424Val)
c.7283A>T (p.Glu2428Val)
c.5408A>T (p.Glu1803Val)
6g.129464311G>ACA451925661LAMA2c.7014G>A (p.Glu2338=)
c.7278G>A (p.Glu2426=)
n.645G>A
n.353G>A
c.7011G>A (p.Glu2337=)
c.7272G>A (p.Glu2424=)
c.7284G>A (p.Glu2428=)
c.5409G>A (p.Glu1803=)
 gnomAD v4
6g.129464311G>CCA365619957LAMA2c.7014G>C (p.Glu2338Asp)
c.7278G>C (p.Glu2426Asp)
n.645G>C
n.353G>C
c.7011G>C (p.Glu2337Asp)
c.7272G>C (p.Glu2424Asp)
c.7284G>C (p.Glu2428Asp)
c.5409G>C (p.Glu1803Asp)
 gnomAD v4
6g.129464311G>TCA365619959LAMA2c.7014G>T (p.Glu2338Asp)
c.7278G>T (p.Glu2426Asp)
n.645G>T
n.353G>T
c.7011G>T (p.Glu2337Asp)
c.7272G>T (p.Glu2424Asp)
c.7284G>T (p.Glu2428Asp)
c.5409G>T (p.Glu1803Asp)
6g.129464312G>ACA365619961LAMA2c.7015G>A (p.Gly2339Arg)
c.7279G>A (p.Gly2427Arg)
n.646G>A
n.354G>A
c.7012G>A (p.Gly2338Arg)
c.7273G>A (p.Gly2425Arg)
c.7285G>A (p.Gly2429Arg)
c.5410G>A (p.Gly1804Arg)
6g.129464312G>CCA365619964LAMA2c.7015G>C (p.Gly2339Arg)
c.7279G>C (p.Gly2427Arg)
n.646G>C
n.354G>C
c.7012G>C (p.Gly2338Arg)
c.7273G>C (p.Gly2425Arg)
c.7285G>C (p.Gly2429Arg)
c.5410G>C (p.Gly1804Arg)
6g.129464312G>TCA365619966LAMA2c.7015G>T (p.Gly2339Trp)
c.7279G>T (p.Gly2427Trp)
n.646G>T
n.354G>T
c.7012G>T (p.Gly2338Trp)
c.7273G>T (p.Gly2425Trp)
c.7285G>T (p.Gly2429Trp)
c.5410G>T (p.Gly1804Trp)
 COSMIC
6g.129464313G>ACA3994421LAMA2c.7016G>A (p.Gly2339Glu)
c.7280G>A (p.Gly2427Glu)
n.647G>A
n.355G>A
c.7013G>A (p.Gly2338Glu)
c.7274G>A (p.Gly2425Glu)
c.7286G>A (p.Gly2429Glu)
c.5411G>A (p.Gly1804Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464313G>CCA365619983LAMA2c.7016G>C (p.Gly2339Ala)
c.7280G>C (p.Gly2427Ala)
n.647G>C
n.355G>C
c.7013G>C (p.Gly2338Ala)
c.7274G>C (p.Gly2425Ala)
c.7286G>C (p.Gly2429Ala)
c.5411G>C (p.Gly1804Ala)
6g.129464313G=CA1663191456LAMA2c.7016G= (p.Gly2339=)
c.7280G= (p.Gly2427=)
n.647G=
n.355G=
c.7013G= (p.Gly2338=)
c.7274G= (p.Gly2425=)
c.7286G= (p.Gly2429=)
c.5411G= (p.Gly1804=)
6g.129464313G>TCA365619982LAMA2c.7016G>T (p.Gly2339Val)
c.7280G>T (p.Gly2427Val)
n.647G>T
n.355G>T
c.7013G>T (p.Gly2338Val)
c.7274G>T (p.Gly2425Val)
c.7286G>T (p.Gly2429Val)
c.5411G>T (p.Gly1804Val)
6g.129464314G>ACA451925673LAMA2c.7017G>A (p.Gly2339=)
c.7281G>A (p.Gly2427=)
n.648G>A
n.356G>A
c.7014G>A (p.Gly2338=)
c.7275G>A (p.Gly2425=)
c.7287G>A (p.Gly2429=)
c.5412G>A (p.Gly1804=)
6g.129464314G>CCA451925670LAMA2c.7017G>C (p.Gly2339=)
c.7281G>C (p.Gly2427=)
n.648G>C
n.356G>C
c.7014G>C (p.Gly2338=)
c.7275G>C (p.Gly2425=)
c.7287G>C (p.Gly2429=)
c.5412G>C (p.Gly1804=)
6g.129464314G>TCA451925672LAMA2c.7017G>T (p.Gly2339=)
c.7281G>T (p.Gly2427=)
n.648G>T
n.356G>T
c.7014G>T (p.Gly2338=)
c.7275G>T (p.Gly2425=)
c.7287G>T (p.Gly2429=)
c.5412G>T (p.Gly1804=)
 gnomAD v4 COSMIC
6g.129464315A>CCA365619989LAMA2c.7018A>C (p.Thr2340Pro)
c.7282A>C (p.Thr2428Pro)
n.649A>C
n.357A>C
c.7015A>C (p.Thr2339Pro)
c.7276A>C (p.Thr2426Pro)
c.7288A>C (p.Thr2430Pro)
c.5413A>C (p.Thr1805Pro)
6g.129464315A>GCA365619992LAMA2c.7018A>G (p.Thr2340Ala)
c.7282A>G (p.Thr2428Ala)
n.649A>G
n.357A>G
c.7015A>G (p.Thr2339Ala)
c.7276A>G (p.Thr2426Ala)
c.7288A>G (p.Thr2430Ala)
c.5413A>G (p.Thr1805Ala)
6g.129464315A>TCA365619995LAMA2c.7018A>T (p.Thr2340Ser)
c.7282A>T (p.Thr2428Ser)
n.649A>T
n.357A>T
c.7015A>T (p.Thr2339Ser)
c.7276A>T (p.Thr2426Ser)
c.7288A>T (p.Thr2430Ser)
c.5413A>T (p.Thr1805Ser)
6g.129464316C>ACA365619999LAMA2c.7019C>A (p.Thr2340Asn)
c.7283C>A (p.Thr2428Asn)
n.650C>A
n.358C>A
c.7016C>A (p.Thr2339Asn)
c.7277C>A (p.Thr2426Asn)
c.7289C>A (p.Thr2430Asn)
c.5414C>A (p.Thr1805Asn)
6g.129464316C>GCA365620003LAMA2c.7019C>G (p.Thr2340Ser)
c.7283C>G (p.Thr2428Ser)
n.650C>G
n.358C>G
c.7016C>G (p.Thr2339Ser)
c.7277C>G (p.Thr2426Ser)
c.7289C>G (p.Thr2430Ser)
c.5414C>G (p.Thr1805Ser)
6g.129464316C>TCA365620006LAMA2c.7019C>T (p.Thr2340Ile)
c.7283C>T (p.Thr2428Ile)
n.650C>T
n.358C>T
c.7016C>T (p.Thr2339Ile)
c.7277C>T (p.Thr2426Ile)
c.7289C>T (p.Thr2430Ile)
c.5414C>T (p.Thr1805Ile)
6g.129464317T>ACA451925681LAMA2c.7020T>A (p.Thr2340=)
c.7284T>A (p.Thr2428=)
n.651T>A
n.359T>A
c.7017T>A (p.Thr2339=)
c.7278T>A (p.Thr2426=)
c.7290T>A (p.Thr2430=)
c.5415T>A (p.Thr1805=)
 COSMIC
6g.129464317T>CCA451925683LAMA2c.7020T>C (p.Thr2340=)
c.7284T>C (p.Thr2428=)
n.651T>C
n.359T>C
c.7017T>C (p.Thr2339=)
c.7278T>C (p.Thr2426=)
c.7290T>C (p.Thr2430=)
c.5415T>C (p.Thr1805=)
6g.129464317T>GCA451925680LAMA2c.7020T>G (p.Thr2340=)
c.7284T>G (p.Thr2428=)
n.651T>G
n.359T>G
c.7017T>G (p.Thr2339=)
c.7278T>G (p.Thr2426=)
c.7290T>G (p.Thr2430=)
c.5415T>G (p.Thr1805=)
6g.129464318A>CCA365620009LAMA2c.7021A>C (p.Ile2341Leu)
c.7285A>C (p.Ile2429Leu)
n.652A>C
n.360A>C
c.7018A>C (p.Ile2340Leu)
c.7279A>C (p.Ile2427Leu)
c.7291A>C (p.Ile2431Leu)
c.5416A>C (p.Ile1806Leu)
6g.129464318A>GCA365620016LAMA2c.7021A>G (p.Ile2341Val)
c.7285A>G (p.Ile2429Val)
n.652A>G
n.360A>G
c.7018A>G (p.Ile2340Val)
c.7279A>G (p.Ile2427Val)
c.7291A>G (p.Ile2431Val)
c.5416A>G (p.Ile1806Val)
 dbSNP
6g.129464318A>TCA365620012LAMA2c.7021A>T (p.Ile2341Phe)
c.7285A>T (p.Ile2429Phe)
n.652A>T
n.360A>T
c.7018A>T (p.Ile2340Phe)
c.7279A>T (p.Ile2427Phe)
c.7291A>T (p.Ile2431Phe)
c.5416A>T (p.Ile1806Phe)
6g.129464319T>ACA365620020LAMA2c.7022T>A (p.Ile2341Asn)
c.7286T>A (p.Ile2429Asn)
n.653T>A
n.361T>A
c.7019T>A (p.Ile2340Asn)
c.7280T>A (p.Ile2427Asn)
c.7292T>A (p.Ile2431Asn)
c.5417T>A (p.Ile1806Asn)
6g.129464319T>CCA365620021LAMA2c.7022T>C (p.Ile2341Thr)
c.7286T>C (p.Ile2429Thr)
n.653T>C
n.361T>C
c.7019T>C (p.Ile2340Thr)
c.7280T>C (p.Ile2427Thr)
c.7292T>C (p.Ile2431Thr)
c.5417T>C (p.Ile1806Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129464319T>GCA365620023LAMA2c.7022T>G (p.Ile2341Ser)
c.7286T>G (p.Ile2429Ser)
n.653T>G
n.361T>G
c.7019T>G (p.Ile2340Ser)
c.7280T>G (p.Ile2427Ser)
c.7292T>G (p.Ile2431Ser)
c.5417T>G (p.Ile1806Ser)
6g.129464319T=CA1663191459LAMA2c.7022T= (p.Ile2341=)
c.7286T= (p.Ile2429=)
n.653T=
n.361T=
c.7019T= (p.Ile2340=)
c.7280T= (p.Ile2427=)
c.7292T= (p.Ile2431=)
c.5417T= (p.Ile1806=)
6g.129464320T>ACA451925700LAMA2c.7023T>A (p.Ile2341=)
c.7287T>A (p.Ile2429=)
n.654T>A
n.362T>A
c.7020T>A (p.Ile2340=)
c.7281T>A (p.Ile2427=)
c.7293T>A (p.Ile2431=)
c.5418T>A (p.Ile1806=)
 ClinVar dbSNP
6g.129464320T>CCA451925696LAMA2c.7023T>C (p.Ile2341=)
c.7287T>C (p.Ile2429=)
n.654T>C
n.362T>C
c.7020T>C (p.Ile2340=)
c.7281T>C (p.Ile2427=)
c.7293T>C (p.Ile2431=)
c.5418T>C (p.Ile1806=)
6g.129464320T>GCA365620027LAMA2c.7023T>G (p.Ile2341Met)
c.7287T>G (p.Ile2429Met)
n.654T>G
n.362T>G
c.7020T>G (p.Ile2340Met)
c.7281T>G (p.Ile2427Met)
c.7293T>G (p.Ile2431Met)
c.5418T>G (p.Ile1806Met)
6g.129464320T=CA1663191462LAMA2c.7023T= (p.Ile2341=)
c.7287T= (p.Ile2429=)
n.654T=
n.362T=
c.7020T= (p.Ile2340=)
c.7281T= (p.Ile2427=)
c.7293T= (p.Ile2431=)
c.5418T= (p.Ile1806=)
6g.129464321C>ACA365620030LAMA2c.7024C>A (p.Gln2342Lys)
c.7288C>A (p.Gln2430Lys)
n.655C>A
n.363C>A
c.7021C>A (p.Gln2341Lys)
c.7282C>A (p.Gln2428Lys)
c.7294C>A (p.Gln2432Lys)
c.5419C>A (p.Gln1807Lys)
6g.129464321C=CA1663191467LAMA2c.7024C= (p.Gln2342=)
c.7288C= (p.Gln2430=)
n.655C=
n.363C=
c.7021C= (p.Gln2341=)
c.7282C= (p.Gln2428=)
c.7294C= (p.Gln2432=)
c.5419C= (p.Gln1807=)
6g.129464321C>GCA365620033LAMA2c.7024C>G (p.Gln2342Glu)
c.7288C>G (p.Gln2430Glu)
n.655C>G
n.363C>G
c.7021C>G (p.Gln2341Glu)
c.7282C>G (p.Gln2428Glu)
c.7294C>G (p.Gln2432Glu)
c.5419C>G (p.Gln1807Glu)
6g.129464321C>TCA365620036LAMA2c.7024C>T (p.Gln2342Ter)
c.7288C>T (p.Gln2430Ter)
n.655C>T
n.363C>T
c.7021C>T (p.Gln2341Ter)
c.7282C>T (p.Gln2428Ter)
c.7294C>T (p.Gln2432Ter)
c.5419C>T (p.Gln1807Ter)
 ClinVar dbSNP
6g.129464322A>CCA365620040LAMA2c.7025A>C (p.Gln2342Pro)
c.7289A>C (p.Gln2430Pro)
n.656A>C
n.364A>C
c.7022A>C (p.Gln2341Pro)
c.7283A>C (p.Gln2428Pro)
c.7295A>C (p.Gln2432Pro)
c.5420A>C (p.Gln1807Pro)
6g.129464322A>GCA365620043LAMA2c.7025A>G (p.Gln2342Arg)
c.7289A>G (p.Gln2430Arg)
n.656A>G
n.364A>G
c.7022A>G (p.Gln2341Arg)
c.7283A>G (p.Gln2428Arg)
c.7295A>G (p.Gln2432Arg)
c.5420A>G (p.Gln1807Arg)
 gnomAD v4
6g.129464322A>TCA365620047LAMA2c.7025A>T (p.Gln2342Leu)
c.7289A>T (p.Gln2430Leu)
n.656A>T
n.364A>T
c.7022A>T (p.Gln2341Leu)
c.7283A>T (p.Gln2428Leu)
c.7295A>T (p.Gln2432Leu)
c.5420A>T (p.Gln1807Leu)
6g.129464323A=CA1663191471LAMA2c.7026A= (p.Gln2342=)
c.7290A= (p.Gln2430=)
n.657A=
n.365A=
c.7023A= (p.Gln2341=)
c.7284A= (p.Gln2428=)
c.7296A= (p.Gln2432=)
c.5421A= (p.Gln1807=)
6g.129464323A>CCA365620050LAMA2c.7026A>C (p.Gln2342His)
c.7290A>C (p.Gln2430His)
n.657A>C
n.365A>C
c.7023A>C (p.Gln2341His)
c.7284A>C (p.Gln2428His)
c.7296A>C (p.Gln2432His)
c.5421A>C (p.Gln1807His)
 gnomAD v4
6g.129464323A>GCA3994422LAMA2c.7026A>G (p.Gln2342=)
c.7290A>G (p.Gln2430=)
n.657A>G
n.365A>G
c.7023A>G (p.Gln2341=)
c.7284A>G (p.Gln2428=)
c.7296A>G (p.Gln2432=)
c.5421A>G (p.Gln1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464323A>TCA365620054LAMA2c.7026A>T (p.Gln2342His)
c.7290A>T (p.Gln2430His)
n.657A>T
n.365A>T
c.7023A>T (p.Gln2341His)
c.7284A>T (p.Gln2428His)
c.7296A>T (p.Gln2432His)
c.5421A>T (p.Gln1807His)
 dbSNP gnomAD v4
6g.129464324T>ACA365620059LAMA2c.7027T>A (p.Phe2343Ile)
c.7291T>A (p.Phe2431Ile)
n.658T>A
n.366T>A
c.7024T>A (p.Phe2342Ile)
c.7285T>A (p.Phe2429Ile)
c.7297T>A (p.Phe2433Ile)
c.5422T>A (p.Phe1808Ile)
6g.129464324T>CCA365620063LAMA2c.7027T>C (p.Phe2343Leu)
c.7291T>C (p.Phe2431Leu)
n.658T>C
n.366T>C
c.7024T>C (p.Phe2342Leu)
c.7285T>C (p.Phe2429Leu)
c.7297T>C (p.Phe2433Leu)
c.5422T>C (p.Phe1808Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.129464324T>GCA365620057LAMA2c.7027T>G (p.Phe2343Val)
c.7291T>G (p.Phe2431Val)
n.658T>G
n.366T>G
c.7024T>G (p.Phe2342Val)
c.7285T>G (p.Phe2429Val)
c.7297T>G (p.Phe2433Val)
c.5422T>G (p.Phe1808Val)
6g.129464324T=CA1663191474LAMA2c.7027T= (p.Phe2343=)
c.7291T= (p.Phe2431=)
n.658T=
n.366T=
c.7024T= (p.Phe2342=)
c.7285T= (p.Phe2429=)
c.7297T= (p.Phe2433=)
c.5422T= (p.Phe1808=)
6g.129464325T>ACA365620070LAMA2c.7028T>A (p.Phe2343Tyr)
c.7292T>A (p.Phe2431Tyr)
n.659T>A
n.367T>A
c.7025T>A (p.Phe2342Tyr)
c.7286T>A (p.Phe2429Tyr)
c.7298T>A (p.Phe2433Tyr)
c.5423T>A (p.Phe1808Tyr)
6g.129464325T>CCA365620066LAMA2c.7028T>C (p.Phe2343Ser)
c.7292T>C (p.Phe2431Ser)
n.659T>C
n.367T>C
c.7025T>C (p.Phe2342Ser)
c.7286T>C (p.Phe2429Ser)
c.7298T>C (p.Phe2433Ser)
c.5423T>C (p.Phe1808Ser)
 dbSNP
6g.129464325T>GCA365620072LAMA2c.7028T>G (p.Phe2343Cys)
c.7292T>G (p.Phe2431Cys)
n.659T>G
n.367T>G
c.7025T>G (p.Phe2342Cys)
c.7286T>G (p.Phe2429Cys)
c.7298T>G (p.Phe2433Cys)
c.5423T>G (p.Phe1808Cys)
6g.129464326T>ACA365620077LAMA2c.7029T>A (p.Phe2343Leu)
c.7293T>A (p.Phe2431Leu)
n.660T>A
n.368T>A
c.7026T>A (p.Phe2342Leu)
c.7287T>A (p.Phe2429Leu)
c.7299T>A (p.Phe2433Leu)
c.5424T>A (p.Phe1808Leu)
6g.129464326T>CCA451925716LAMA2c.7029T>C (p.Phe2343=)
c.7293T>C (p.Phe2431=)
n.660T>C
n.368T>C
c.7026T>C (p.Phe2342=)
c.7287T>C (p.Phe2429=)
c.7299T>C (p.Phe2433=)
c.5424T>C (p.Phe1808=)
6g.129464326T>GCA365620080LAMA2c.7029T>G (p.Phe2343Leu)
c.7293T>G (p.Phe2431Leu)
n.660T>G
n.368T>G
c.7026T>G (p.Phe2342Leu)
c.7287T>G (p.Phe2429Leu)
c.7299T>G (p.Phe2433Leu)
c.5424T>G (p.Phe1808Leu)
6g.129464327G>ACA365620084LAMA2c.7030G>A (p.Asp2344Asn)
c.7294G>A (p.Asp2432Asn)
n.661G>A
n.369G>A
c.7027G>A (p.Asp2343Asn)
c.7288G>A (p.Asp2430Asn)
c.7300G>A (p.Asp2434Asn)
c.5425G>A (p.Asp1809Asn)
6g.129464327G>CCA365620086LAMA2c.7030G>C (p.Asp2344His)
c.7294G>C (p.Asp2432His)
n.661G>C
n.369G>C
c.7027G>C (p.Asp2343His)
c.7288G>C (p.Asp2430His)
c.7300G>C (p.Asp2434His)
c.5425G>C (p.Asp1809His)
6g.129464327G=CA1663191479LAMA2c.7030G= (p.Asp2344=)
c.7294G= (p.Asp2432=)
n.661G=
n.369G=
c.7027G= (p.Asp2343=)
c.7288G= (p.Asp2430=)
c.7300G= (p.Asp2434=)
c.5425G= (p.Asp1809=)
6g.129464327G>TCA3994423LAMA2c.7030G>T (p.Asp2344Tyr)
c.7294G>T (p.Asp2432Tyr)
n.661G>T
n.369G>T
c.7027G>T (p.Asp2343Tyr)
c.7288G>T (p.Asp2430Tyr)
c.7300G>T (p.Asp2434Tyr)
c.5425G>T (p.Asp1809Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464328A>CCA365620092LAMA2c.7031A>C (p.Asp2344Ala)
c.7295A>C (p.Asp2432Ala)
n.662A>C
n.370A>C
c.7028A>C (p.Asp2343Ala)
c.7289A>C (p.Asp2430Ala)
c.7301A>C (p.Asp2434Ala)
c.5426A>C (p.Asp1809Ala)
6g.129464328A>GCA365620095LAMA2c.7031A>G (p.Asp2344Gly)
c.7295A>G (p.Asp2432Gly)
n.662A>G
n.370A>G
c.7028A>G (p.Asp2343Gly)
c.7289A>G (p.Asp2430Gly)
c.7301A>G (p.Asp2434Gly)
c.5426A>G (p.Asp1809Gly)
6g.129464328A>TCA365620097LAMA2c.7031A>T (p.Asp2344Val)
c.7295A>T (p.Asp2432Val)
n.662A>T
n.370A>T
c.7028A>T (p.Asp2343Val)
c.7289A>T (p.Asp2430Val)
c.7301A>T (p.Asp2434Val)
c.5426A>T (p.Asp1809Val)
 gnomAD v4
6g.129464329T>ACA365620100LAMA2c.7032T>A (p.Asp2344Glu)
c.7296T>A (p.Asp2432Glu)
n.663T>A
n.371T>A
c.7029T>A (p.Asp2343Glu)
c.7290T>A (p.Asp2430Glu)
c.7302T>A (p.Asp2434Glu)
c.5427T>A (p.Asp1809Glu)
6g.129464329T>CCA451925729LAMA2c.7032T>C (p.Asp2344=)
c.7296T>C (p.Asp2432=)
n.663T>C
n.371T>C
c.7029T>C (p.Asp2343=)
c.7290T>C (p.Asp2430=)
c.7302T>C (p.Asp2434=)
c.5427T>C (p.Asp1809=)
6g.129464329T>GCA365620102LAMA2c.7032T>G (p.Asp2344Glu)
c.7296T>G (p.Asp2432Glu)
n.663T>G
n.371T>G
c.7029T>G (p.Asp2343Glu)
c.7290T>G (p.Asp2430Glu)
c.7302T>G (p.Asp2434Glu)
c.5427T>G (p.Asp1809Glu)
6g.129464330G>ACA365620106LAMA2c.7033G>A (p.Gly2345Arg)
c.7297G>A (p.Gly2433Arg)
n.664G>A
n.372G>A
c.7030G>A (p.Gly2344Arg)
c.7291G>A (p.Gly2431Arg)
c.7303G>A (p.Gly2435Arg)
c.5428G>A (p.Gly1810Arg)
6g.129464330G>CCA365620109LAMA2c.7033G>C (p.Gly2345Arg)
c.7297G>C (p.Gly2433Arg)
n.664G>C
n.372G>C
c.7030G>C (p.Gly2344Arg)
c.7291G>C (p.Gly2431Arg)
c.7303G>C (p.Gly2435Arg)
c.5428G>C (p.Gly1810Arg)
6g.129464330G>TCA365620111LAMA2c.7033G>T (p.Gly2345Ter)
c.7297G>T (p.Gly2433Ter)
n.664G>T
n.372G>T
c.7030G>T (p.Gly2344Ter)
c.7291G>T (p.Gly2431Ter)
c.7303G>T (p.Gly2435Ter)
c.5428G>T (p.Gly1810Ter)
6g.129464331G>ACA365620118LAMA2c.7034G>A (p.Gly2345Glu)
c.7298G>A (p.Gly2433Glu)
n.665G>A
n.373G>A
c.7031G>A (p.Gly2344Glu)
c.7292G>A (p.Gly2431Glu)
c.7304G>A (p.Gly2435Glu)
c.5429G>A (p.Gly1810Glu)
6g.129464331G>CCA365620116LAMA2c.7034G>C (p.Gly2345Ala)
c.7298G>C (p.Gly2433Ala)
n.665G>C
n.373G>C
c.7031G>C (p.Gly2344Ala)
c.7292G>C (p.Gly2431Ala)
c.7304G>C (p.Gly2435Ala)
c.5429G>C (p.Gly1810Ala)
 gnomAD v4
6g.129464331G>TCA365620113LAMA2c.7034G>T (p.Gly2345Val)
c.7298G>T (p.Gly2433Val)
n.665G>T
n.373G>T
c.7031G>T (p.Gly2344Val)
c.7292G>T (p.Gly2431Val)
c.7304G>T (p.Gly2435Val)
c.5429G>T (p.Gly1810Val)
6g.129464332A>CCA451925745LAMA2c.7035A>C (p.Gly2345=)
c.7299A>C (p.Gly2433=)
n.666A>C
n.374A>C
c.7032A>C (p.Gly2344=)
c.7293A>C (p.Gly2431=)
c.7305A>C (p.Gly2435=)
c.5430A>C (p.Gly1810=)
6g.129464332A>GCA451925751LAMA2c.7035A>G (p.Gly2345=)
c.7299A>G (p.Gly2433=)
n.666A>G
n.374A>G
c.7032A>G (p.Gly2344=)
c.7293A>G (p.Gly2431=)
c.7305A>G (p.Gly2435=)
c.5430A>G (p.Gly1810=)
 ClinVar gnomAD v4
6g.129464332A>TCA451925753LAMA2c.7035A>T (p.Gly2345=)
c.7299A>T (p.Gly2433=)
n.666A>T
n.374A>T
c.7032A>T (p.Gly2344=)
c.7293A>T (p.Gly2431=)
c.7305A>T (p.Gly2435=)
c.5430A>T (p.Gly1810=)
6g.129464333G>ACA365620122LAMA2c.7036G>A (p.Glu2346Lys)
c.7300G>A (p.Glu2434Lys)
n.667G>A
n.375G>A
c.7033G>A (p.Glu2345Lys)
c.7294G>A (p.Glu2432Lys)
c.7306G>A (p.Glu2436Lys)
c.5431G>A (p.Glu1811Lys)
 gnomAD v4
6g.129464333G>CCA365620126LAMA2c.7036G>C (p.Glu2346Gln)
c.7300G>C (p.Glu2434Gln)
n.667G>C
n.375G>C
c.7033G>C (p.Glu2345Gln)
c.7294G>C (p.Glu2432Gln)
c.7306G>C (p.Glu2436Gln)
c.5431G>C (p.Glu1811Gln)
6g.129464333G>TCA365620127LAMA2c.7036G>T (p.Glu2346Ter)
c.7300G>T (p.Glu2434Ter)
n.667G>T
n.375G>T
c.7033G>T (p.Glu2345Ter)
c.7294G>T (p.Glu2432Ter)
c.7306G>T (p.Glu2436Ter)
c.5431G>T (p.Glu1811Ter)
6g.129464334A>CCA365620131LAMA2c.7037A>C (p.Glu2346Ala)
c.7301A>C (p.Glu2434Ala)
n.668A>C
n.376A>C
c.7034A>C (p.Glu2345Ala)
c.7295A>C (p.Glu2432Ala)
c.7307A>C (p.Glu2436Ala)
c.5432A>C (p.Glu1811Ala)
6g.129464334A>GCA365620135LAMA2c.7037A>G (p.Glu2346Gly)
c.7301A>G (p.Glu2434Gly)
n.668A>G
n.376A>G
c.7034A>G (p.Glu2345Gly)
c.7295A>G (p.Glu2432Gly)
c.7307A>G (p.Glu2436Gly)
c.5432A>G (p.Glu1811Gly)
6g.129464334A>TCA365620136LAMA2c.7037A>T (p.Glu2346Val)
c.7301A>T (p.Glu2434Val)
n.668A>T
n.376A>T
c.7034A>T (p.Glu2345Val)
c.7295A>T (p.Glu2432Val)
c.7307A>T (p.Glu2436Val)
c.5432A>T (p.Glu1811Val)
6g.129464335A>CCA365620137LAMA2c.7038A>C (p.Glu2346Asp)
c.7302A>C (p.Glu2434Asp)
n.669A>C
n.377A>C
c.7035A>C (p.Glu2345Asp)
c.7296A>C (p.Glu2432Asp)
c.7308A>C (p.Glu2436Asp)
c.5433A>C (p.Glu1811Asp)
6g.129464335A>GCA451925776LAMA2c.7038A>G (p.Glu2346=)
c.7302A>G (p.Glu2434=)
n.669A>G
n.377A>G
c.7035A>G (p.Glu2345=)
c.7296A>G (p.Glu2432=)
c.7308A>G (p.Glu2436=)
c.5433A>G (p.Glu1811=)
6g.129464335A>TCA365620138LAMA2c.7038A>T (p.Glu2346Asp)
c.7302A>T (p.Glu2434Asp)
n.669A>T
n.377A>T
c.7035A>T (p.Glu2345Asp)
c.7296A>T (p.Glu2432Asp)
c.7308A>T (p.Glu2436Asp)
c.5433A>T (p.Glu1811Asp)
6g.129464336G>ACA365620139LAMA2c.7039G>A (p.Gly2347Ser)
c.7303G>A (p.Gly2435Ser)
n.670G>A
n.378G>A
c.7036G>A (p.Gly2346Ser)
c.7297G>A (p.Gly2433Ser)
c.7309G>A (p.Gly2437Ser)
c.5434G>A (p.Gly1812Ser)
6g.129464336G>CCA365620141LAMA2c.7039G>C (p.Gly2347Arg)
c.7303G>C (p.Gly2435Arg)
n.670G>C
n.378G>C
c.7036G>C (p.Gly2346Arg)
c.7297G>C (p.Gly2433Arg)
c.7309G>C (p.Gly2437Arg)
c.5434G>C (p.Gly1812Arg)
6g.129464336G>TCA365620144LAMA2c.7039G>T (p.Gly2347Cys)
c.7303G>T (p.Gly2435Cys)
n.670G>T
n.378G>T
c.7036G>T (p.Gly2346Cys)
c.7297G>T (p.Gly2433Cys)
c.7309G>T (p.Gly2437Cys)
c.5434G>T (p.Gly1812Cys)
6g.129464337G>ACA146891283LAMA2c.7040G>A (p.Gly2347Asp)
c.7304G>A (p.Gly2435Asp)
n.671G>A
n.379G>A
c.7037G>A (p.Gly2346Asp)
c.7298G>A (p.Gly2433Asp)
c.7310G>A (p.Gly2437Asp)
c.5435G>A (p.Gly1812Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464337G>CCA365620154LAMA2c.7040G>C (p.Gly2347Ala)
c.7304G>C (p.Gly2435Ala)
n.671G>C
n.379G>C
c.7037G>C (p.Gly2346Ala)
c.7298G>C (p.Gly2433Ala)
c.7310G>C (p.Gly2437Ala)
c.5435G>C (p.Gly1812Ala)
6g.129464337G=CA1663191485LAMA2c.7040G= (p.Gly2347=)
c.7304G= (p.Gly2435=)
n.671G=
n.379G=
c.7037G= (p.Gly2346=)
c.7298G= (p.Gly2433=)
c.7310G= (p.Gly2437=)
c.5435G= (p.Gly1812=)
6g.129464337G>TCA3994424LAMA2c.7040G>T (p.Gly2347Val)
c.7304G>T (p.Gly2435Val)
n.671G>T
n.379G>T
c.7037G>T (p.Gly2346Val)
c.7298G>T (p.Gly2433Val)
c.7310G>T (p.Gly2437Val)
c.5435G>T (p.Gly1812Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464338T>ACA451925793LAMA2c.7041T>A (p.Gly2347=)
c.7305T>A (p.Gly2435=)
n.672T>A
n.380T>A
c.7038T>A (p.Gly2346=)
c.7299T>A (p.Gly2433=)
c.7311T>A (p.Gly2437=)
c.5436T>A (p.Gly1812=)
6g.129464338T>CCA451925794LAMA2c.7041T>C (p.Gly2347=)
c.7305T>C (p.Gly2435=)
n.672T>C
n.380T>C
c.7038T>C (p.Gly2346=)
c.7299T>C (p.Gly2433=)
c.7311T>C (p.Gly2437=)
c.5436T>C (p.Gly1812=)
 ClinVar dbSNP
6g.129464338T>GCA451925792LAMA2c.7041T>G (p.Gly2347=)
c.7305T>G (p.Gly2435=)
n.672T>G
n.380T>G
c.7038T>G (p.Gly2346=)
c.7299T>G (p.Gly2433=)
c.7311T>G (p.Gly2437=)
c.5436T>G (p.Gly1812=)
6g.129464339dupCA2680307464LAMA2c.7042dup (p.Tyr2348LeufsTer?)
c.7306dup (p.Tyr2436LeufsTer?)
n.673dup
n.381dup
c.7039dup (p.Tyr2347LeufsTer?)
c.7300dup (p.Tyr2434LeufsTer?)
c.7312dup (p.Tyr2438LeufsTer?)
c.5437dup (p.Tyr1813LeufsTer?)
 ClinVar gnomAD v4
6g.129464339T>ACA365620161LAMA2c.7042T>A (p.Tyr2348Asn)
c.7306T>A (p.Tyr2436Asn)
n.673T>A
n.381T>A
c.7039T>A (p.Tyr2347Asn)
c.7300T>A (p.Tyr2434Asn)
c.7312T>A (p.Tyr2438Asn)
c.5437T>A (p.Tyr1813Asn)
6g.129464339T>CCA365620163LAMA2c.7042T>C (p.Tyr2348His)
c.7306T>C (p.Tyr2436His)
n.673T>C
n.381T>C
c.7039T>C (p.Tyr2347His)
c.7300T>C (p.Tyr2434His)
c.7312T>C (p.Tyr2438His)
c.5437T>C (p.Tyr1813His)
6g.129464339T>GCA365620170LAMA2c.7042T>G (p.Tyr2348Asp)
c.7306T>G (p.Tyr2436Asp)
n.673T>G
n.381T>G
c.7039T>G (p.Tyr2347Asp)
c.7300T>G (p.Tyr2434Asp)
c.7312T>G (p.Tyr2438Asp)
c.5437T>G (p.Tyr1813Asp)
6g.129464340A>CCA365620178LAMA2c.7043A>C (p.Tyr2348Ser)
c.7307A>C (p.Tyr2436Ser)
n.674A>C
n.382A>C
c.7040A>C (p.Tyr2347Ser)
c.7301A>C (p.Tyr2434Ser)
c.7313A>C (p.Tyr2438Ser)
c.5438A>C (p.Tyr1813Ser)
6g.129464340A>GCA365620181LAMA2c.7043A>G (p.Tyr2348Cys)
c.7307A>G (p.Tyr2436Cys)
n.674A>G
n.382A>G
c.7040A>G (p.Tyr2347Cys)
c.7301A>G (p.Tyr2434Cys)
c.7313A>G (p.Tyr2438Cys)
c.5438A>G (p.Tyr1813Cys)
6g.129464340A>TCA365620196LAMA2c.7043A>T (p.Tyr2348Phe)
c.7307A>T (p.Tyr2436Phe)
n.674A>T
n.382A>T
c.7040A>T (p.Tyr2347Phe)
c.7301A>T (p.Tyr2434Phe)
c.7313A>T (p.Tyr2438Phe)
c.5438A>T (p.Tyr1813Phe)
6g.129464341T>ACA365620198LAMA2c.7044T>A (p.Tyr2348Ter)
c.7308T>A (p.Tyr2436Ter)
n.675T>A
n.383T>A
c.7041T>A (p.Tyr2347Ter)
c.7302T>A (p.Tyr2434Ter)
c.7314T>A (p.Tyr2438Ter)
c.5439T>A (p.Tyr1813Ter)
6g.129464341T>CCA451925808LAMA2c.7044T>C (p.Tyr2348=)
c.7308T>C (p.Tyr2436=)
n.675T>C
n.383T>C
c.7041T>C (p.Tyr2347=)
c.7302T>C (p.Tyr2434=)
c.7314T>C (p.Tyr2438=)
c.5439T>C (p.Tyr1813=)
6g.129464341T>GCA146891295LAMA2c.7044T>G (p.Tyr2348Ter)
c.7308T>G (p.Tyr2436Ter)
n.675T>G
n.383T>G
c.7041T>G (p.Tyr2347Ter)
c.7302T>G (p.Tyr2434Ter)
c.7314T>G (p.Tyr2438Ter)
c.5439T>G (p.Tyr1813Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464341T=CA1663191493LAMA2c.7044T= (p.Tyr2348=)
c.7308T= (p.Tyr2436=)
n.675T=
n.383T=
c.7041T= (p.Tyr2347=)
c.7302T= (p.Tyr2434=)
c.7314T= (p.Tyr2438=)
c.5439T= (p.Tyr1813=)
6g.129464342G>ACA365620228LAMA2c.7045G>A (p.Ala2349Thr)
c.7309G>A (p.Ala2437Thr)
n.676G>A
n.384G>A
c.7042G>A (p.Ala2348Thr)
c.7303G>A (p.Ala2435Thr)
c.7315G>A (p.Ala2439Thr)
c.5440G>A (p.Ala1814Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.129464342G>CCA365620232LAMA2c.7045G>C (p.Ala2349Pro)
c.7309G>C (p.Ala2437Pro)
n.676G>C
n.384G>C
c.7042G>C (p.Ala2348Pro)
c.7303G>C (p.Ala2435Pro)
c.7315G>C (p.Ala2439Pro)
c.5440G>C (p.Ala1814Pro)
6g.129464342G=CA1663191499LAMA2c.7045G= (p.Ala2349=)
c.7309G= (p.Ala2437=)
n.676G=
n.384G=
c.7042G= (p.Ala2348=)
c.7303G= (p.Ala2435=)
c.7315G= (p.Ala2439=)
c.5440G= (p.Ala1814=)
6g.129464342G>TCA365620238LAMA2c.7045G>T (p.Ala2349Ser)
c.7309G>T (p.Ala2437Ser)
n.676G>T
n.384G>T
c.7042G>T (p.Ala2348Ser)
c.7303G>T (p.Ala2435Ser)
c.7315G>T (p.Ala2439Ser)
c.5440G>T (p.Ala1814Ser)
6g.129464343C>ACA365620245LAMA2c.7046C>A (p.Ala2349Glu)
c.7310C>A (p.Ala2437Glu)
n.677C>A
n.385C>A
c.7043C>A (p.Ala2348Glu)
c.7304C>A (p.Ala2435Glu)
c.7316C>A (p.Ala2439Glu)
c.5441C>A (p.Ala1814Glu)
6g.129464343C>GCA365620244LAMA2c.7046C>G (p.Ala2349Gly)
c.7310C>G (p.Ala2437Gly)
n.677C>G
n.385C>G
c.7043C>G (p.Ala2348Gly)
c.7304C>G (p.Ala2435Gly)
c.7316C>G (p.Ala2439Gly)
c.5441C>G (p.Ala1814Gly)
6g.129464343C>TCA365620242LAMA2c.7046C>T (p.Ala2349Val)
c.7310C>T (p.Ala2437Val)
n.677C>T
n.385C>T
c.7043C>T (p.Ala2348Val)
c.7304C>T (p.Ala2435Val)
c.7316C>T (p.Ala2439Val)
c.5441C>T (p.Ala1814Val)
6g.129464344A=CA1663191505LAMA2c.7047A= (p.Ala2349=)
c.7311A= (p.Ala2437=)
n.678A=
n.386A=
c.7044A= (p.Ala2348=)
c.7305A= (p.Ala2435=)
c.7317A= (p.Ala2439=)
c.5442A= (p.Ala1814=)
6g.129464344A>CCA451925829LAMA2c.7047A>C (p.Ala2349=)
c.7311A>C (p.Ala2437=)
n.678A>C
n.386A>C
c.7044A>C (p.Ala2348=)
c.7305A>C (p.Ala2435=)
c.7317A>C (p.Ala2439=)
c.5442A>C (p.Ala1814=)
6g.129464344A>GCA451925825LAMA2c.7047A>G (p.Ala2349=)
c.7311A>G (p.Ala2437=)
n.678A>G
n.386A>G
c.7044A>G (p.Ala2348=)
c.7305A>G (p.Ala2435=)
c.7317A>G (p.Ala2439=)
c.5442A>G (p.Ala1814=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129464344A>TCA451925823LAMA2c.7047A>T (p.Ala2349=)
c.7311A>T (p.Ala2437=)
n.678A>T
n.386A>T
c.7044A>T (p.Ala2348=)
c.7305A>T (p.Ala2435=)
c.7317A>T (p.Ala2439=)
c.5442A>T (p.Ala1814=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464345T>ACA365620246LAMA2c.7048T>A (p.Leu2350Met)
c.7312T>A (p.Leu2438Met)
n.679T>A
n.387T>A
c.7045T>A (p.Leu2349Met)
c.7306T>A (p.Leu2436Met)
c.7318T>A (p.Leu2440Met)
c.5443T>A (p.Leu1815Met)
6g.129464345T>CCA451925833LAMA2c.7048T>C (p.Leu2350=)
c.7312T>C (p.Leu2438=)
n.679T>C
n.387T>C
c.7045T>C (p.Leu2349=)
c.7306T>C (p.Leu2436=)
c.7318T>C (p.Leu2440=)
c.5443T>C (p.Leu1815=)
 dbSNP
6g.129464345T>GCA365620247LAMA2c.7048T>G (p.Leu2350Val)
c.7312T>G (p.Leu2438Val)
n.679T>G
n.387T>G
c.7045T>G (p.Leu2349Val)
c.7306T>G (p.Leu2436Val)
c.7318T>G (p.Leu2440Val)
c.5443T>G (p.Leu1815Val)
6g.129464345T=CA1663191507LAMA2c.7048T= (p.Leu2350=)
c.7312T= (p.Leu2438=)
n.679T=
n.387T=
c.7045T= (p.Leu2349=)
c.7306T= (p.Leu2436=)
c.7318T= (p.Leu2440=)
c.5443T= (p.Leu1815=)
6g.129464346T>ACA365620251LAMA2c.7049T>A (p.Leu2350Ter)
c.7313T>A (p.Leu2438Ter)
n.680T>A
n.388T>A
c.7046T>A (p.Leu2349Ter)
c.7307T>A (p.Leu2436Ter)
c.7319T>A (p.Leu2440Ter)
c.5444T>A (p.Leu1815Ter)
6g.129464346T>CCA365620255LAMA2c.7049T>C (p.Leu2350Ser)
c.7313T>C (p.Leu2438Ser)
n.680T>C
n.388T>C
c.7046T>C (p.Leu2349Ser)
c.7307T>C (p.Leu2436Ser)
c.7319T>C (p.Leu2440Ser)
c.5444T>C (p.Leu1815Ser)
6g.129464346T>GCA365620258LAMA2c.7049T>G (p.Leu2350Trp)
c.7313T>G (p.Leu2438Trp)
n.680T>G
n.388T>G
c.7046T>G (p.Leu2349Trp)
c.7307T>G (p.Leu2436Trp)
c.7319T>G (p.Leu2440Trp)
c.5444T>G (p.Leu1815Trp)
6g.129464347G>ACA451925838LAMA2c.7050G>A (p.Leu2350=)
c.7314G>A (p.Leu2438=)
n.681G>A
n.389G>A
c.7047G>A (p.Leu2349=)
c.7308G>A (p.Leu2436=)
c.7320G>A (p.Leu2440=)
c.5445G>A (p.Leu1815=)
 gnomAD v4
6g.129464347G>CCA365620268LAMA2c.7050G>C (p.Leu2350Phe)
c.7314G>C (p.Leu2438Phe)
n.681G>C
n.389G>C
c.7047G>C (p.Leu2349Phe)
c.7308G>C (p.Leu2436Phe)
c.7320G>C (p.Leu2440Phe)
c.5445G>C (p.Leu1815Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.129464347G=CA1663191512LAMA2c.7050G= (p.Leu2350=)
c.7314G= (p.Leu2438=)
n.681G=
n.389G=
c.7047G= (p.Leu2349=)
c.7308G= (p.Leu2436=)
c.7320G= (p.Leu2440=)
c.5445G= (p.Leu1815=)
6g.129464347G>TCA365620273LAMA2c.7050G>T (p.Leu2350Phe)
c.7314G>T (p.Leu2438Phe)
n.681G>T
n.389G>T
c.7047G>T (p.Leu2349Phe)
c.7308G>T (p.Leu2436Phe)
c.7320G>T (p.Leu2440Phe)
c.5445G>T (p.Leu1815Phe)
6g.129464348G>ACA3994425LAMA2c.7051G>A (p.Val2351Ile)
c.7315G>A (p.Val2439Ile)
n.682G>A
n.390G>A
c.7048G>A (p.Val2350Ile)
c.7309G>A (p.Val2437Ile)
c.7321G>A (p.Val2441Ile)
c.5446G>A (p.Val1816Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464348G>CCA365620277LAMA2c.7051G>C (p.Val2351Leu)
c.7315G>C (p.Val2439Leu)
n.682G>C
n.390G>C
c.7048G>C (p.Val2350Leu)
c.7309G>C (p.Val2437Leu)
c.7321G>C (p.Val2441Leu)
c.5446G>C (p.Val1816Leu)
6g.129464348G=CA1663191515LAMA2c.7051G= (p.Val2351=)
c.7315G= (p.Val2439=)
n.682G=
n.390G=
c.7048G= (p.Val2350=)
c.7309G= (p.Val2437=)
c.7321G= (p.Val2441=)
c.5446G= (p.Val1816=)
6g.129464348G>TCA365620279LAMA2c.7051G>T (p.Val2351Phe)
c.7315G>T (p.Val2439Phe)
n.682G>T
n.390G>T
c.7048G>T (p.Val2350Phe)
c.7309G>T (p.Val2437Phe)
c.7321G>T (p.Val2441Phe)
c.5446G>T (p.Val1816Phe)
6g.129464349T>ACA365620286LAMA2c.7052T>A (p.Val2351Asp)
c.7316T>A (p.Val2439Asp)
n.683T>A
n.391T>A
c.7049T>A (p.Val2350Asp)
c.7310T>A (p.Val2437Asp)
c.7322T>A (p.Val2441Asp)
c.5447T>A (p.Val1816Asp)
6g.129464349T>CCA365620288LAMA2c.7052T>C (p.Val2351Ala)
c.7316T>C (p.Val2439Ala)
n.683T>C
n.391T>C
c.7049T>C (p.Val2350Ala)
c.7310T>C (p.Val2437Ala)
c.7322T>C (p.Val2441Ala)
c.5447T>C (p.Val1816Ala)
 ClinVar
6g.129464349T>GCA365620306LAMA2c.7052T>G (p.Val2351Gly)
c.7316T>G (p.Val2439Gly)
n.683T>G
n.391T>G
c.7049T>G (p.Val2350Gly)
c.7310T>G (p.Val2437Gly)
c.7322T>G (p.Val2441Gly)
c.5447T>G (p.Val1816Gly)
6g.129464350C>ACA451925859LAMA2c.7053C>A (p.Val2351=)
c.7317C>A (p.Val2439=)
n.684C>A
n.392C>A
c.7050C>A (p.Val2350=)
c.7311C>A (p.Val2437=)
c.7323C>A (p.Val2441=)
c.5448C>A (p.Val1816=)
6g.129464350C>GCA451925860LAMA2c.7053C>G (p.Val2351=)
c.7317C>G (p.Val2439=)
n.684C>G
n.392C>G
c.7050C>G (p.Val2350=)
c.7311C>G (p.Val2437=)
c.7323C>G (p.Val2441=)
c.5448C>G (p.Val1816=)
6g.129464350C>TCA451925862LAMA2c.7053C>T (p.Val2351=)
c.7317C>T (p.Val2439=)
n.684C>T
n.392C>T
c.7050C>T (p.Val2350=)
c.7311C>T (p.Val2437=)
c.7323C>T (p.Val2441=)
c.5448C>T (p.Val1816=)
6g.129464351A>CCA365620314LAMA2c.7054A>C (p.Ser2352Arg)
c.7318A>C (p.Ser2440Arg)
n.685A>C
n.393A>C
c.7051A>C (p.Ser2351Arg)
c.7312A>C (p.Ser2438Arg)
c.7324A>C (p.Ser2442Arg)
c.5449A>C (p.Ser1817Arg)
 gnomAD v4
6g.129464351A>GCA365620315LAMA2c.7054A>G (p.Ser2352Gly)
c.7318A>G (p.Ser2440Gly)
n.685A>G
n.393A>G
c.7051A>G (p.Ser2351Gly)
c.7312A>G (p.Ser2438Gly)
c.7324A>G (p.Ser2442Gly)
c.5449A>G (p.Ser1817Gly)
6g.129464351A>TCA365620312LAMA2c.7054A>T (p.Ser2352Cys)
c.7318A>T (p.Ser2440Cys)
n.685A>T
n.393A>T
c.7051A>T (p.Ser2351Cys)
c.7312A>T (p.Ser2438Cys)
c.7324A>T (p.Ser2442Cys)
c.5449A>T (p.Ser1817Cys)
6g.129464352G>ACA365620317LAMA2c.7055G>A (p.Ser2352Asn)
c.7319G>A (p.Ser2440Asn)
n.686G>A
n.394G>A
c.7052G>A (p.Ser2351Asn)
c.7313G>A (p.Ser2438Asn)
c.7325G>A (p.Ser2442Asn)
c.5450G>A (p.Ser1817Asn)
6g.129464352G>CCA3994426LAMA2c.7055G>C (p.Ser2352Thr)
c.7319G>C (p.Ser2440Thr)
n.686G>C
n.394G>C
c.7052G>C (p.Ser2351Thr)
c.7313G>C (p.Ser2438Thr)
c.7325G>C (p.Ser2442Thr)
c.5450G>C (p.Ser1817Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464352G=CA1663191517LAMA2c.7055G= (p.Ser2352=)
c.7319G= (p.Ser2440=)
n.686G=
n.394G=
c.7052G= (p.Ser2351=)
c.7313G= (p.Ser2438=)
c.7325G= (p.Ser2442=)
c.5450G= (p.Ser1817=)
6g.129464352G>TCA365620325LAMA2c.7055G>T (p.Ser2352Ile)
c.7319G>T (p.Ser2440Ile)
n.686G>T
n.394G>T
c.7052G>T (p.Ser2351Ile)
c.7313G>T (p.Ser2438Ile)
c.7325G>T (p.Ser2442Ile)
c.5450G>T (p.Ser1817Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.129464353C>ACA365620340LAMA2c.7056C>A (p.Ser2352Arg)
c.7320C>A (p.Ser2440Arg)
n.687C>A
n.395C>A
c.7053C>A (p.Ser2351Arg)
c.7314C>A (p.Ser2438Arg)
c.7326C>A (p.Ser2442Arg)
c.5451C>A (p.Ser1817Arg)
 dbSNP
6g.129464353C=CA1663191520LAMA2c.7056C= (p.Ser2352=)
c.7320C= (p.Ser2440=)
n.687C=
n.395C=
c.7053C= (p.Ser2351=)
c.7314C= (p.Ser2438=)
c.7326C= (p.Ser2442=)
c.5451C= (p.Ser1817=)
6g.129464353C>GCA365620342LAMA2c.7056C>G (p.Ser2352Arg)
c.7320C>G (p.Ser2440Arg)
n.687C>G
n.395C>G
c.7053C>G (p.Ser2351Arg)
c.7314C>G (p.Ser2438Arg)
c.7326C>G (p.Ser2442Arg)
c.5451C>G (p.Ser1817Arg)
6g.129464353C>TCA451925881LAMA2c.7056C>T (p.Ser2352=)
c.7320C>T (p.Ser2440=)
n.687C>T
n.395C>T
c.7053C>T (p.Ser2351=)
c.7314C>T (p.Ser2438=)
c.7326C>T (p.Ser2442=)
c.5451C>T (p.Ser1817=)
 ClinVar dbSNP COSMIC
6g.129464354C>ACA365620371LAMA2c.7057C>A (p.Arg2353Ser)
c.7321C>A (p.Arg2441Ser)
n.688C>A
n.396C>A
c.7054C>A (p.Arg2352Ser)
c.7315C>A (p.Arg2439Ser)
c.7327C>A (p.Arg2443Ser)
c.5452C>A (p.Arg1818Ser)
 dbSNP gnomAD v4
6g.129464354C=CA1663191525LAMA2c.7057C= (p.Arg2353=)
c.7321C= (p.Arg2441=)
n.688C=
n.396C=
c.7054C= (p.Arg2352=)
c.7315C= (p.Arg2439=)
c.7327C= (p.Arg2443=)
c.5452C= (p.Arg1818=)
6g.129464354C>GCA365620361LAMA2c.7057C>G (p.Arg2353Gly)
c.7321C>G (p.Arg2441Gly)
n.688C>G
n.396C>G
c.7054C>G (p.Arg2352Gly)
c.7315C>G (p.Arg2439Gly)
c.7327C>G (p.Arg2443Gly)
c.5452C>G (p.Arg1818Gly)
6g.129464354C>TCA3994427LAMA2c.7057C>T (p.Arg2353Cys)
c.7321C>T (p.Arg2441Cys)
n.688C>T
n.396C>T
c.7054C>T (p.Arg2352Cys)
c.7315C>T (p.Arg2439Cys)
c.7327C>T (p.Arg2443Cys)
c.5452C>T (p.Arg1818Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464355G>ACA3994428LAMA2c.7058G>A (p.Arg2353His)
c.7322G>A (p.Arg2441His)
n.689G>A
n.397G>A
c.7055G>A (p.Arg2352His)
c.7316G>A (p.Arg2439His)
c.7328G>A (p.Arg2443His)
c.5453G>A (p.Arg1818His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129464355G>CCA365620382LAMA2c.7058G>C (p.Arg2353Pro)
c.7322G>C (p.Arg2441Pro)
n.689G>C
n.397G>C
c.7055G>C (p.Arg2352Pro)
c.7316G>C (p.Arg2439Pro)
c.7328G>C (p.Arg2443Pro)
c.5453G>C (p.Arg1818Pro)
6g.129464355G=CA1663191533LAMA2c.7058G= (p.Arg2353=)
c.7322G= (p.Arg2441=)
n.689G=
n.397G=
c.7055G= (p.Arg2352=)
c.7316G= (p.Arg2439=)
c.7328G= (p.Arg2443=)
c.5453G= (p.Arg1818=)
6g.129464355G>TCA3994429LAMA2c.7058G>T (p.Arg2353Leu)
c.7322G>T (p.Arg2441Leu)
n.689G>T
n.397G>T
c.7055G>T (p.Arg2352Leu)
c.7316G>T (p.Arg2439Leu)
c.7328G>T (p.Arg2443Leu)
c.5453G>T (p.Arg1818Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464356T>ACA451925887LAMA2c.7059T>A (p.Arg2353=)
c.7323T>A (p.Arg2441=)
n.690T>A
n.398T>A
c.7056T>A (p.Arg2352=)
c.7317T>A (p.Arg2439=)
c.7329T>A (p.Arg2443=)
c.5454T>A (p.Arg1818=)
6g.129464356T>CCA451925894LAMA2c.7059T>C (p.Arg2353=)
c.7323T>C (p.Arg2441=)
n.690T>C
n.398T>C
c.7056T>C (p.Arg2352=)
c.7317T>C (p.Arg2439=)
c.7329T>C (p.Arg2443=)
c.5454T>C (p.Arg1818=)
 dbSNP
6g.129464356T>GCA451925897LAMA2c.7059T>G (p.Arg2353=)
c.7323T>G (p.Arg2441=)
n.690T>G
n.398T>G
c.7056T>G (p.Arg2352=)
c.7317T>G (p.Arg2439=)
c.7329T>G (p.Arg2443=)
c.5454T>G (p.Arg1818=)
6g.129464356T=CA1663191538LAMA2c.7059T= (p.Arg2353=)
c.7323T= (p.Arg2441=)
n.690T=
n.398T=
c.7056T= (p.Arg2352=)
c.7317T= (p.Arg2439=)
c.7329T= (p.Arg2443=)
c.5454T= (p.Arg1818=)
6g.129464357C>ACA365620393LAMA2c.7060C>A (p.Pro2354Thr)
c.7324C>A (p.Pro2442Thr)
n.691C>A
n.399C>A
c.7057C>A (p.Pro2353Thr)
c.7318C>A (p.Pro2440Thr)
c.7330C>A (p.Pro2444Thr)
c.5455C>A (p.Pro1819Thr)
6g.129464357C>GCA365620394LAMA2c.7060C>G (p.Pro2354Ala)
c.7324C>G (p.Pro2442Ala)
n.691C>G
n.399C>G
c.7057C>G (p.Pro2353Ala)
c.7318C>G (p.Pro2440Ala)
c.7330C>G (p.Pro2444Ala)
c.5455C>G (p.Pro1819Ala)
6g.129464357C>TCA365620396LAMA2c.7060C>T (p.Pro2354Ser)
c.7324C>T (p.Pro2442Ser)
n.691C>T
n.399C>T
c.7057C>T (p.Pro2353Ser)
c.7318C>T (p.Pro2440Ser)
c.7330C>T (p.Pro2444Ser)
c.5455C>T (p.Pro1819Ser)
6g.129464359delCA2578756790LAMA2c.7062del (p.Ile2355PhefsTer23)
c.7326del (p.Ile2443PhefsTer23)
n.693del
n.401del
c.7059del (p.Ile2354PhefsTer23)
c.7320del (p.Ile2441PhefsTer23)
c.7332del (p.Ile2445PhefsTer23)
c.5457del (p.Ile1820PhefsTer23)
6g.129464358C>ACA365620410LAMA2c.7061C>A (p.Pro2354His)
c.7325C>A (p.Pro2442His)
n.692C>A
n.400C>A
c.7058C>A (p.Pro2353His)
c.7319C>A (p.Pro2440His)
c.7331C>A (p.Pro2444His)
c.5456C>A (p.Pro1819His)
6g.129464358C>GCA365620407LAMA2c.7061C>G (p.Pro2354Arg)
c.7325C>G (p.Pro2442Arg)
n.692C>G
n.400C>G
c.7058C>G (p.Pro2353Arg)
c.7319C>G (p.Pro2440Arg)
c.7331C>G (p.Pro2444Arg)
c.5456C>G (p.Pro1819Arg)
6g.129464358C>TCA365620409LAMA2c.7061C>T (p.Pro2354Leu)
c.7325C>T (p.Pro2442Leu)
n.692C>T
n.400C>T
c.7058C>T (p.Pro2353Leu)
c.7319C>T (p.Pro2440Leu)
c.7331C>T (p.Pro2444Leu)
c.5456C>T (p.Pro1819Leu)
6g.129464359C>ACA451925925LAMA2c.7062C>A (p.Pro2354=)
c.7326C>A (p.Pro2442=)
n.693C>A
n.401C>A
c.7059C>A (p.Pro2353=)
c.7320C>A (p.Pro2440=)
c.7332C>A (p.Pro2444=)
c.5457C>A (p.Pro1819=)
6g.129464359C>GCA451925926LAMA2c.7062C>G (p.Pro2354=)
c.7326C>G (p.Pro2442=)
n.693C>G
n.401C>G
c.7059C>G (p.Pro2353=)
c.7320C>G (p.Pro2440=)
c.7332C>G (p.Pro2444=)
c.5457C>G (p.Pro1819=)
6g.129464359C>TCA451925928LAMA2c.7062C>T (p.Pro2354=)
c.7326C>T (p.Pro2442=)
n.693C>T
n.401C>T
c.7059C>T (p.Pro2353=)
c.7320C>T (p.Pro2440=)
c.7332C>T (p.Pro2444=)
c.5457C>T (p.Pro1819=)
 ClinVar gnomAD v4
6g.129464360A>CCA365620411LAMA2c.7063A>C (p.Ile2355Leu)
c.7327A>C (p.Ile2443Leu)
n.694A>C
n.402A>C
c.7060A>C (p.Ile2354Leu)
c.7321A>C (p.Ile2441Leu)
c.7333A>C (p.Ile2445Leu)
c.5458A>C (p.Ile1820Leu)
6g.129464360A>GCA365620412LAMA2c.7063A>G (p.Ile2355Val)
c.7327A>G (p.Ile2443Val)
n.694A>G
n.402A>G
c.7060A>G (p.Ile2354Val)
c.7321A>G (p.Ile2441Val)
c.7333A>G (p.Ile2445Val)
c.5458A>G (p.Ile1820Val)
 gnomAD v4
6g.129464360A>TCA365620413LAMA2c.7063A>T (p.Ile2355Phe)
c.7327A>T (p.Ile2443Phe)
n.694A>T
n.402A>T
c.7060A>T (p.Ile2354Phe)
c.7321A>T (p.Ile2441Phe)
c.7333A>T (p.Ile2445Phe)
c.5458A>T (p.Ile1820Phe)
6g.129464361T>ACA365620416LAMA2c.7064T>A (p.Ile2355Asn)
c.7328T>A (p.Ile2443Asn)
n.695T>A
n.403T>A
c.7061T>A (p.Ile2354Asn)
c.7322T>A (p.Ile2441Asn)
c.7334T>A (p.Ile2445Asn)
c.5459T>A (p.Ile1820Asn)
6g.129464361T>CCA365620418LAMA2c.7064T>C (p.Ile2355Thr)
c.7328T>C (p.Ile2443Thr)
n.695T>C
n.403T>C
c.7061T>C (p.Ile2354Thr)
c.7322T>C (p.Ile2441Thr)
c.7334T>C (p.Ile2445Thr)
c.5459T>C (p.Ile1820Thr)
 dbSNP gnomAD v2
6g.129464361T>GCA365620420LAMA2c.7064T>G (p.Ile2355Ser)
c.7328T>G (p.Ile2443Ser)
n.695T>G
n.403T>G
c.7061T>G (p.Ile2354Ser)
c.7322T>G (p.Ile2441Ser)
c.7334T>G (p.Ile2445Ser)
c.5459T>G (p.Ile1820Ser)
6g.129464361T=CA1663191540LAMA2c.7064T= (p.Ile2355=)
c.7328T= (p.Ile2443=)
n.695T=
n.403T=
c.7061T= (p.Ile2354=)
c.7322T= (p.Ile2441=)
c.7334T= (p.Ile2445=)
c.5459T= (p.Ile1820=)
6g.129464362T>ACA451925933LAMA2c.7065T>A (p.Ile2355=)
c.7329T>A (p.Ile2443=)
n.696T>A
n.404T>A
c.7062T>A (p.Ile2354=)
c.7323T>A (p.Ile2441=)
c.7335T>A (p.Ile2445=)
c.5460T>A (p.Ile1820=)
6g.129464362T>CCA451925936LAMA2c.7065T>C (p.Ile2355=)
c.7329T>C (p.Ile2443=)
n.696T>C
n.404T>C
c.7062T>C (p.Ile2354=)
c.7323T>C (p.Ile2441=)
c.7335T>C (p.Ile2445=)
c.5460T>C (p.Ile1820=)
6g.129464362T>GCA365620423LAMA2c.7065T>G (p.Ile2355Met)
c.7329T>G (p.Ile2443Met)
n.696T>G
n.404T>G
c.7062T>G (p.Ile2354Met)
c.7323T>G (p.Ile2441Met)
c.7335T>G (p.Ile2445Met)
c.5460T>G (p.Ile1820Met)
6g.129464363C>ACA365620427LAMA2c.7066C>A (p.Arg2356Ser)
c.7330C>A (p.Arg2444Ser)
n.697C>A
n.405C>A
c.7063C>A (p.Arg2355Ser)
c.7324C>A (p.Arg2442Ser)
c.7336C>A (p.Arg2446Ser)
c.5461C>A (p.Arg1821Ser)
 dbSNP
6g.129464363C=CA1663191542LAMA2c.7066C= (p.Arg2356=)
c.7330C= (p.Arg2444=)
n.697C=
n.405C=
c.7063C= (p.Arg2355=)
c.7324C= (p.Arg2442=)
c.7336C= (p.Arg2446=)
c.5461C= (p.Arg1821=)
6g.129464363C>GCA365620428LAMA2c.7066C>G (p.Arg2356Gly)
c.7330C>G (p.Arg2444Gly)
n.697C>G
n.405C>G
c.7063C>G (p.Arg2355Gly)
c.7324C>G (p.Arg2442Gly)
c.7336C>G (p.Arg2446Gly)
c.5461C>G (p.Arg1821Gly)
6g.129464363C>TCA3994430LAMA2c.7066C>T (p.Arg2356Cys)
c.7330C>T (p.Arg2444Cys)
n.697C>T
n.405C>T
c.7063C>T (p.Arg2355Cys)
c.7324C>T (p.Arg2442Cys)
c.7336C>T (p.Arg2446Cys)
c.5461C>T (p.Arg1821Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.129464364G>ACA3994431LAMA2c.7067G>A (p.Arg2356His)
c.7331G>A (p.Arg2444His)
n.698G>A
n.406G>A
c.7064G>A (p.Arg2355His)
c.7325G>A (p.Arg2442His)
c.7337G>A (p.Arg2446His)
c.5462G>A (p.Arg1821His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129464364G>CCA365620437LAMA2c.7067G>C (p.Arg2356Pro)
c.7331G>C (p.Arg2444Pro)
n.698G>C
n.406G>C
c.7064G>C (p.Arg2355Pro)
c.7325G>C (p.Arg2442Pro)
c.7337G>C (p.Arg2446Pro)
c.5462G>C (p.Arg1821Pro)
6g.129464364G=CA1663191545LAMA2c.7067G= (p.Arg2356=)
c.7331G= (p.Arg2444=)
n.698G=
n.406G=
c.7064G= (p.Arg2355=)
c.7325G= (p.Arg2442=)
c.7337G= (p.Arg2446=)
c.5462G= (p.Arg1821=)
6g.129464364G>TCA365620444LAMA2c.7067G>T (p.Arg2356Leu)
c.7331G>T (p.Arg2444Leu)
n.698G>T
n.406G>T
c.7064G>T (p.Arg2355Leu)
c.7325G>T (p.Arg2442Leu)
c.7337G>T (p.Arg2446Leu)
c.5462G>T (p.Arg1821Leu)
6g.129464365C>ACA451925937LAMA2c.7068C>A (p.Arg2356=)
c.7332C>A (p.Arg2444=)
n.699C>A
n.407C>A
c.7065C>A (p.Arg2355=)
c.7326C>A (p.Arg2442=)
c.7338C>A (p.Arg2446=)
c.5463C>A (p.Arg1821=)
6g.129464365C>GCA451925938LAMA2c.7068C>G (p.Arg2356=)
c.7332C>G (p.Arg2444=)
n.699C>G
n.407C>G
c.7065C>G (p.Arg2355=)
c.7326C>G (p.Arg2442=)
c.7338C>G (p.Arg2446=)
c.5463C>G (p.Arg1821=)
6g.129464365C>TCA451925939LAMA2c.7068C>T (p.Arg2356=)
c.7332C>T (p.Arg2444=)
n.699C>T
n.407C>T
c.7065C>T (p.Arg2355=)
c.7326C>T (p.Arg2442=)
c.7338C>T (p.Arg2446=)
c.5463C>T (p.Arg1821=)
 ClinVar dbSNP COSMIC
6g.129464366T>ACA365620448LAMA2c.7069T>A (p.Trp2357Arg)
c.7333T>A (p.Trp2445Arg)
n.700T>A
n.408T>A
c.7066T>A (p.Trp2356Arg)
c.7327T>A (p.Trp2443Arg)
c.7339T>A (p.Trp2447Arg)
c.5464T>A (p.Trp1822Arg)
6g.129464366T>CCA3994432LAMA2c.7069T>C (p.Trp2357Arg)
c.7333T>C (p.Trp2445Arg)
n.700T>C
n.408T>C
c.7066T>C (p.Trp2356Arg)
c.7327T>C (p.Trp2443Arg)
c.7339T>C (p.Trp2447Arg)
c.5464T>C (p.Trp1822Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464366T>GCA365620455LAMA2c.7069T>G (p.Trp2357Gly)
c.7333T>G (p.Trp2445Gly)
n.700T>G
n.408T>G
c.7066T>G (p.Trp2356Gly)
c.7327T>G (p.Trp2443Gly)
c.7339T>G (p.Trp2447Gly)
c.5464T>G (p.Trp1822Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.129464366T=CA1663191548LAMA2c.7069T= (p.Trp2357=)
c.7333T= (p.Trp2445=)
n.700T=
n.408T=
c.7066T= (p.Trp2356=)
c.7327T= (p.Trp2443=)
c.7339T= (p.Trp2447=)
c.5464T= (p.Trp1822=)
6g.129464367G>ACA3994434LAMA2c.7070G>A (p.Trp2357Ter)
c.7334G>A (p.Trp2445Ter)
n.701G>A
n.409G>A
c.7067G>A (p.Trp2356Ter)
c.7328G>A (p.Trp2443Ter)
c.7340G>A (p.Trp2447Ter)
c.5465G>A (p.Trp1822Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464367G>CCA365620461LAMA2c.7070G>C (p.Trp2357Ser)
c.7334G>C (p.Trp2445Ser)
n.701G>C
n.409G>C
c.7067G>C (p.Trp2356Ser)
c.7328G>C (p.Trp2443Ser)
c.7340G>C (p.Trp2447Ser)
c.5465G>C (p.Trp1822Ser)
6g.129464367G=CA1663191553LAMA2c.7070G= (p.Trp2357=)
c.7334G= (p.Trp2445=)
n.701G=
n.409G=
c.7067G= (p.Trp2356=)
c.7328G= (p.Trp2443=)
c.7340G= (p.Trp2447=)
c.5465G= (p.Trp1822=)
6g.129464367G>TCA3994433LAMA2c.7070G>T (p.Trp2357Leu)
c.7334G>T (p.Trp2445Leu)
n.701G>T
n.409G>T
c.7067G>T (p.Trp2356Leu)
c.7328G>T (p.Trp2443Leu)
c.7340G>T (p.Trp2447Leu)
c.5465G>T (p.Trp1822Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.129464368G>ACA365620472LAMA2c.7071G>A (p.Trp2357Ter)
c.7335G>A (p.Trp2445Ter)
n.702G>A
n.410G>A
c.7068G>A (p.Trp2356Ter)
c.7329G>A (p.Trp2443Ter)
c.7341G>A (p.Trp2447Ter)
c.5466G>A (p.Trp1822Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464368G>CCA365620475LAMA2c.7071G>C (p.Trp2357Cys)
c.7335G>C (p.Trp2445Cys)
n.702G>C
n.410G>C
c.7068G>C (p.Trp2356Cys)
c.7329G>C (p.Trp2443Cys)
c.7341G>C (p.Trp2447Cys)
c.5466G>C (p.Trp1822Cys)
6g.129464368G=CA1663191557LAMA2c.7071G= (p.Trp2357=)
c.7335G= (p.Trp2445=)
n.702G=
n.410G=
c.7068G= (p.Trp2356=)
c.7329G= (p.Trp2443=)
c.7341G= (p.Trp2447=)
c.5466G= (p.Trp1822=)
6g.129464368G>TCA365620479LAMA2c.7071G>T (p.Trp2357Cys)
c.7335G>T (p.Trp2445Cys)
n.702G>T
n.410G>T
c.7068G>T (p.Trp2356Cys)
c.7329G>T (p.Trp2443Cys)
c.7341G>T (p.Trp2447Cys)
c.5466G>T (p.Trp1822Cys)
 ClinVar
6g.129464369T>ACA365620494LAMA2c.7072T>A (p.Tyr2358Asn)
c.7336T>A (p.Tyr2446Asn)
n.703T>A
n.411T>A
c.7069T>A (p.Tyr2357Asn)
c.7330T>A (p.Tyr2444Asn)
c.7342T>A (p.Tyr2448Asn)
c.5467T>A (p.Tyr1823Asn)
6g.129464369T>CCA365620483LAMA2c.7072T>C (p.Tyr2358His)
c.7336T>C (p.Tyr2446His)
n.703T>C
n.411T>C
c.7069T>C (p.Tyr2357His)
c.7330T>C (p.Tyr2444His)
c.7342T>C (p.Tyr2448His)
c.5467T>C (p.Tyr1823His)
6g.129464369T>GCA365620490LAMA2c.7072T>G (p.Tyr2358Asp)
c.7336T>G (p.Tyr2446Asp)
n.703T>G
n.411T>G
c.7069T>G (p.Tyr2357Asp)
c.7330T>G (p.Tyr2444Asp)
c.7342T>G (p.Tyr2448Asp)
c.5467T>G (p.Tyr1823Asp)
6g.129464370A=CA1663191563LAMA2c.7073A= (p.Tyr2358=)
c.7337A= (p.Tyr2446=)
n.704A=
n.412A=
c.7070A= (p.Tyr2357=)
c.7331A= (p.Tyr2444=)
c.7343A= (p.Tyr2448=)
c.5468A= (p.Tyr1823=)
6g.129464370A>CCA365620498LAMA2c.7073A>C (p.Tyr2358Ser)
c.7337A>C (p.Tyr2446Ser)
n.704A>C
n.412A>C
c.7070A>C (p.Tyr2357Ser)
c.7331A>C (p.Tyr2444Ser)
c.7343A>C (p.Tyr2448Ser)
c.5468A>C (p.Tyr1823Ser)
6g.129464370A>GCA3994435LAMA2c.7073A>G (p.Tyr2358Cys)
c.7337A>G (p.Tyr2446Cys)
n.704A>G
n.412A>G
c.7070A>G (p.Tyr2357Cys)
c.7331A>G (p.Tyr2444Cys)
c.7343A>G (p.Tyr2448Cys)
c.5468A>G (p.Tyr1823Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464370A>TCA365620502LAMA2c.7073A>T (p.Tyr2358Phe)
c.7337A>T (p.Tyr2446Phe)
n.704A>T
n.412A>T
c.7070A>T (p.Tyr2357Phe)
c.7331A>T (p.Tyr2444Phe)
c.7343A>T (p.Tyr2448Phe)
c.5468A>T (p.Tyr1823Phe)
6g.129464371C>ACA3994436LAMA2c.7074C>A (p.Tyr2358Ter)
c.7338C>A (p.Tyr2446Ter)
n.705C>A
n.413C>A
c.7071C>A (p.Tyr2357Ter)
c.7332C>A (p.Tyr2444Ter)
c.7344C>A (p.Tyr2448Ter)
c.5469C>A (p.Tyr1823Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464371C=CA1663191568LAMA2c.7074C= (p.Tyr2358=)
c.7338C= (p.Tyr2446=)
n.705C=
n.413C=
c.7071C= (p.Tyr2357=)
c.7332C= (p.Tyr2444=)
c.7344C= (p.Tyr2448=)
c.5469C= (p.Tyr1823=)
6g.129464371C>GCA365620508LAMA2c.7074C>G (p.Tyr2358Ter)
c.7338C>G (p.Tyr2446Ter)
n.705C>G
n.413C>G
c.7071C>G (p.Tyr2357Ter)
c.7332C>G (p.Tyr2444Ter)
c.7344C>G (p.Tyr2448Ter)
c.5469C>G (p.Tyr1823Ter)
6g.129464371C>TCA451925946LAMA2c.7074C>T (p.Tyr2358=)
c.7338C>T (p.Tyr2446=)
n.705C>T
n.413C>T
c.7071C>T (p.Tyr2357=)
c.7332C>T (p.Tyr2444=)
c.7344C>T (p.Tyr2448=)
c.5469C>T (p.Tyr1823=)
 gnomAD v4
6g.129464374dupCA2695206952LAMA2c.7077dup (p.Asn2360GlnfsTer?)
c.7341dup (p.Asn2448GlnfsTer?)
n.708dup
n.416dup
c.7074dup (p.Asn2359GlnfsTer?)
c.7335dup (p.Asn2446GlnfsTer?)
c.7347dup (p.Asn2450GlnfsTer?)
c.5472dup (p.Asn1825GlnfsTer?)
6g.129464373_129464374delCA2713030609LAMA2c.7076_7077del (p.Pro2359GlnfsTer?)
c.7340_7341del (p.Pro2447GlnfsTer?)
n.707_708del
n.415_416del
c.7073_7074del (p.Pro2358GlnfsTer?)
c.7334_7335del (p.Pro2445GlnfsTer?)
c.7346_7347del (p.Pro2449GlnfsTer?)
c.5471_5472del (p.Pro1824GlnfsTer?)
 dbSNP
6g.129464372C>ACA365620514LAMA2c.7075C>A (p.Pro2359Thr)
c.7339C>A (p.Pro2447Thr)
n.706C>A
n.414C>A
c.7072C>A (p.Pro2358Thr)
c.7333C>A (p.Pro2445Thr)
c.7345C>A (p.Pro2449Thr)
c.5470C>A (p.Pro1824Thr)
6g.129464372C=CA1663191573LAMA2c.7075C= (p.Pro2359=)
c.7339C= (p.Pro2447=)
n.706C=
n.414C=
c.7072C= (p.Pro2358=)
c.7333C= (p.Pro2445=)
c.7345C= (p.Pro2449=)
c.5470C= (p.Pro1824=)
6g.129464372C>GCA365620518LAMA2c.7075C>G (p.Pro2359Ala)
c.7339C>G (p.Pro2447Ala)
n.706C>G
n.414C>G
c.7072C>G (p.Pro2358Ala)
c.7333C>G (p.Pro2445Ala)
c.7345C>G (p.Pro2449Ala)
c.5470C>G (p.Pro1824Ala)
 gnomAD v4
6g.129464372C>TCA3994437LAMA2c.7075C>T (p.Pro2359Ser)
c.7339C>T (p.Pro2447Ser)
n.706C>T
n.414C>T
c.7072C>T (p.Pro2358Ser)
c.7333C>T (p.Pro2445Ser)
c.7345C>T (p.Pro2449Ser)
c.5470C>T (p.Pro1824Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464373C>ACA365620521LAMA2c.7076C>A (p.Pro2359His)
c.7340C>A (p.Pro2447His)
n.707C>A
n.415C>A
c.7073C>A (p.Pro2358His)
c.7334C>A (p.Pro2445His)
c.7346C>A (p.Pro2449His)
c.5471C>A (p.Pro1824His)
6g.129464373C>GCA365620525LAMA2c.7076C>G (p.Pro2359Arg)
c.7340C>G (p.Pro2447Arg)
n.707C>G
n.415C>G
c.7073C>G (p.Pro2358Arg)
c.7334C>G (p.Pro2445Arg)
c.7346C>G (p.Pro2449Arg)
c.5471C>G (p.Pro1824Arg)
6g.129464373C>TCA365620527LAMA2c.7076C>T (p.Pro2359Leu)
c.7340C>T (p.Pro2447Leu)
n.707C>T
n.415C>T
c.7073C>T (p.Pro2358Leu)
c.7334C>T (p.Pro2445Leu)
c.7346C>T (p.Pro2449Leu)
c.5471C>T (p.Pro1824Leu)
6g.129464374C>ACA451925949LAMA2c.7077C>A (p.Pro2359=)
c.7341C>A (p.Pro2447=)
n.708C>A
n.416C>A
c.7074C>A (p.Pro2358=)
c.7335C>A (p.Pro2445=)
c.7347C>A (p.Pro2449=)
c.5472C>A (p.Pro1824=)
6g.129464374C>GCA451925951LAMA2c.7077C>G (p.Pro2359=)
c.7341C>G (p.Pro2447=)
n.708C>G
n.416C>G
c.7074C>G (p.Pro2358=)
c.7335C>G (p.Pro2445=)
c.7347C>G (p.Pro2449=)
c.5472C>G (p.Pro1824=)
6g.129464374C>TCA451925950LAMA2c.7077C>T (p.Pro2359=)
c.7341C>T (p.Pro2447=)
n.708C>T
n.416C>T
c.7074C>T (p.Pro2358=)
c.7335C>T (p.Pro2445=)
c.7347C>T (p.Pro2449=)
c.5472C>T (p.Pro1824=)
6g.129464375A>CCA365620531LAMA2c.7078A>C (p.Asn2360His)
c.7342A>C (p.Asn2448His)
n.709A>C
n.417A>C
c.7075A>C (p.Asn2359His)
c.7336A>C (p.Asn2446His)
c.7348A>C (p.Asn2450His)
c.5473A>C (p.Asn1825His)
6g.129464375A>GCA365620541LAMA2c.7078A>G (p.Asn2360Asp)
c.7342A>G (p.Asn2448Asp)
n.709A>G
n.417A>G
c.7075A>G (p.Asn2359Asp)
c.7336A>G (p.Asn2446Asp)
c.7348A>G (p.Asn2450Asp)
c.5473A>G (p.Asn1825Asp)
6g.129464375A>TCA365620544LAMA2c.7078A>T (p.Asn2360Tyr)
c.7342A>T (p.Asn2448Tyr)
n.709A>T
n.417A>T
c.7075A>T (p.Asn2359Tyr)
c.7336A>T (p.Asn2446Tyr)
c.7348A>T (p.Asn2450Tyr)
c.5473A>T (p.Asn1825Tyr)
6g.129464376A=CA1663191577LAMA2c.7079A= (p.Asn2360=)
c.7343A= (p.Asn2448=)
n.710A=
n.418A=
c.7076A= (p.Asn2359=)
c.7337A= (p.Asn2446=)
c.7349A= (p.Asn2450=)
c.5474A= (p.Asn1825=)
6g.129464376A>CCA365620547LAMA2c.7079A>C (p.Asn2360Thr)
c.7343A>C (p.Asn2448Thr)
n.710A>C
n.418A>C
c.7076A>C (p.Asn2359Thr)
c.7337A>C (p.Asn2446Thr)
c.7349A>C (p.Asn2450Thr)
c.5474A>C (p.Asn1825Thr)
 gnomAD v4
6g.129464376A>GCA365620548LAMA2c.7079A>G (p.Asn2360Ser)
c.7343A>G (p.Asn2448Ser)
n.710A>G
n.418A>G
c.7076A>G (p.Asn2359Ser)
c.7337A>G (p.Asn2446Ser)
c.7349A>G (p.Asn2450Ser)
c.5474A>G (p.Asn1825Ser)
 dbSNP gnomAD v4
6g.129464376A>TCA365620549LAMA2c.7079A>T (p.Asn2360Ile)
c.7343A>T (p.Asn2448Ile)
n.710A>T
n.418A>T
c.7076A>T (p.Asn2359Ile)
c.7337A>T (p.Asn2446Ile)
c.7349A>T (p.Asn2450Ile)
c.5474A>T (p.Asn1825Ile)
 gnomAD v4
6g.129464377C>ACA365620550LAMA2c.7080C>A (p.Asn2360Lys)
c.7344C>A (p.Asn2448Lys)
n.711C>A
n.419C>A
c.7077C>A (p.Asn2359Lys)
c.7338C>A (p.Asn2446Lys)
c.7350C>A (p.Asn2450Lys)
c.5475C>A (p.Asn1825Lys)
6g.129464377C>GCA365620551LAMA2c.7080C>G (p.Asn2360Lys)
c.7344C>G (p.Asn2448Lys)
n.711C>G
n.419C>G
c.7077C>G (p.Asn2359Lys)
c.7338C>G (p.Asn2446Lys)
c.7350C>G (p.Asn2450Lys)
c.5475C>G (p.Asn1825Lys)
6g.129464377C>TCA451925957LAMA2c.7080C>T (p.Asn2360=)
c.7344C>T (p.Asn2448=)
n.711C>T
n.419C>T
c.7077C>T (p.Asn2359=)
c.7338C>T (p.Asn2446=)
c.7350C>T (p.Asn2450=)
c.5475C>T (p.Asn1825=)
6g.129464378A>CCA365620556LAMA2c.7081A>C (p.Ile2361Leu)
c.7345A>C (p.Ile2449Leu)
n.712A>C
n.420A>C
c.7078A>C (p.Ile2360Leu)
c.7339A>C (p.Ile2447Leu)
c.7351A>C (p.Ile2451Leu)
c.5476A>C (p.Ile1826Leu)
6g.129464378A>GCA365620559LAMA2c.7081A>G (p.Ile2361Val)
c.7345A>G (p.Ile2449Val)
n.712A>G
n.420A>G
c.7078A>G (p.Ile2360Val)
c.7339A>G (p.Ile2447Val)
c.7351A>G (p.Ile2451Val)
c.5476A>G (p.Ile1826Val)
6g.129464378A>TCA365620554LAMA2c.7081A>T (p.Ile2361Phe)
c.7345A>T (p.Ile2449Phe)
n.712A>T
n.420A>T
c.7078A>T (p.Ile2360Phe)
c.7339A>T (p.Ile2447Phe)
c.7351A>T (p.Ile2451Phe)
c.5476A>T (p.Ile1826Phe)
6g.129464379T>ACA365620562LAMA2c.7082T>A (p.Ile2361Asn)
c.7346T>A (p.Ile2449Asn)
n.713T>A
n.421T>A
c.7079T>A (p.Ile2360Asn)
c.7340T>A (p.Ile2447Asn)
c.7352T>A (p.Ile2451Asn)
c.5477T>A (p.Ile1826Asn)
6g.129464379T>CCA365620565LAMA2c.7082T>C (p.Ile2361Thr)
c.7346T>C (p.Ile2449Thr)
n.713T>C
n.421T>C
c.7079T>C (p.Ile2360Thr)
c.7340T>C (p.Ile2447Thr)
c.7352T>C (p.Ile2451Thr)
c.5477T>C (p.Ile1826Thr)
6g.129464379T>GCA365620568LAMA2c.7082T>G (p.Ile2361Ser)
c.7346T>G (p.Ile2449Ser)
n.713T>G
n.421T>G
c.7079T>G (p.Ile2360Ser)
c.7340T>G (p.Ile2447Ser)
c.7352T>G (p.Ile2451Ser)
c.5477T>G (p.Ile1826Ser)
6g.129464380C>ACA451925960LAMA2c.7083C>A (p.Ile2361=)
c.7347C>A (p.Ile2449=)
n.714C>A
n.422C>A
c.7080C>A (p.Ile2360=)
c.7341C>A (p.Ile2447=)
c.7353C>A (p.Ile2451=)
c.5478C>A (p.Ile1826=)
6g.129464380C>GCA365620572LAMA2c.7083C>G (p.Ile2361Met)
c.7347C>G (p.Ile2449Met)
n.714C>G
n.422C>G
c.7080C>G (p.Ile2360Met)
c.7341C>G (p.Ile2447Met)
c.7353C>G (p.Ile2451Met)
c.5478C>G (p.Ile1826Met)
6g.129464380C>TCA451925962LAMA2c.7083C>T (p.Ile2361=)
c.7347C>T (p.Ile2449=)
n.714C>T
n.422C>T
c.7080C>T (p.Ile2360=)
c.7341C>T (p.Ile2447=)
c.7353C>T (p.Ile2451=)
c.5478C>T (p.Ile1826=)
6g.129464381_129464383delCA2578756791LAMA2c.7084_7086del (p.Ser2362del)
c.7348_7350del (p.Ser2450del)
n.715_717del
n.423_425del
c.7081_7083del (p.Ser2361del)
c.7342_7344del (p.Ser2448del)
c.7354_7356del (p.Ser2452del)
c.5479_5481del (p.Ser1827del)
6g.129464381T>ACA365620575LAMA2c.7084T>A (p.Ser2362Thr)
c.7348T>A (p.Ser2450Thr)
n.715T>A
n.423T>A
c.7081T>A (p.Ser2361Thr)
c.7342T>A (p.Ser2448Thr)
c.7354T>A (p.Ser2452Thr)
c.5479T>A (p.Ser1827Thr)
6g.129464381T>CCA365620584LAMA2c.7084T>C (p.Ser2362Pro)
c.7348T>C (p.Ser2450Pro)
n.715T>C
n.423T>C
c.7081T>C (p.Ser2361Pro)
c.7342T>C (p.Ser2448Pro)
c.7354T>C (p.Ser2452Pro)
c.5479T>C (p.Ser1827Pro)
6g.129464381T>GCA365620585LAMA2c.7084T>G (p.Ser2362Ala)
c.7348T>G (p.Ser2450Ala)
n.715T>G
n.423T>G
c.7081T>G (p.Ser2361Ala)
c.7342T>G (p.Ser2448Ala)
c.7354T>G (p.Ser2452Ala)
c.5479T>G (p.Ser1827Ala)
6g.129464382C>ACA365620588LAMA2c.7085C>A (p.Ser2362Tyr)
c.7349C>A (p.Ser2450Tyr)
n.716C>A
n.424C>A
c.7082C>A (p.Ser2361Tyr)
c.7343C>A (p.Ser2448Tyr)
c.7355C>A (p.Ser2452Tyr)
c.5480C>A (p.Ser1827Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129464382C=CA1663191582LAMA2c.7085C= (p.Ser2362=)
c.7349C= (p.Ser2450=)
n.716C=
n.424C=
c.7082C= (p.Ser2361=)
c.7343C= (p.Ser2448=)
c.7355C= (p.Ser2452=)
c.5480C= (p.Ser1827=)
6g.129464382C>GCA365620591LAMA2c.7085C>G (p.Ser2362Cys)
c.7349C>G (p.Ser2450Cys)
n.716C>G
n.424C>G
c.7082C>G (p.Ser2361Cys)
c.7343C>G (p.Ser2448Cys)
c.7355C>G (p.Ser2452Cys)
c.5480C>G (p.Ser1827Cys)
 gnomAD v4 COSMIC
6g.129464382C>TCA365620595LAMA2c.7085C>T (p.Ser2362Phe)
c.7349C>T (p.Ser2450Phe)
n.716C>T
n.424C>T
c.7082C>T (p.Ser2361Phe)
c.7343C>T (p.Ser2448Phe)
c.7355C>T (p.Ser2452Phe)
c.5480C>T (p.Ser1827Phe)
6g.129464383C>ACA451925964LAMA2c.7086C>A (p.Ser2362=)
c.7350C>A (p.Ser2450=)
n.717C>A
n.425C>A
c.7083C>A (p.Ser2361=)
c.7344C>A (p.Ser2448=)
c.7356C>A (p.Ser2452=)
c.5481C>A (p.Ser1827=)
6g.129464383C>GCA451925965LAMA2c.7086C>G (p.Ser2362=)
c.7350C>G (p.Ser2450=)
n.717C>G
n.425C>G
c.7083C>G (p.Ser2361=)
c.7344C>G (p.Ser2448=)
c.7356C>G (p.Ser2452=)
c.5481C>G (p.Ser1827=)
6g.129464383C>TCA451925966LAMA2c.7086C>T (p.Ser2362=)
c.7350C>T (p.Ser2450=)
n.717C>T
n.425C>T
c.7083C>T (p.Ser2361=)
c.7344C>T (p.Ser2448=)
c.7356C>T (p.Ser2452=)
c.5481C>T (p.Ser1827=)
6g.129464384A>CCA365620598LAMA2c.7087A>C (p.Thr2363Pro)
c.7351A>C (p.Thr2451Pro)
n.718A>C
n.426A>C
c.7084A>C (p.Thr2362Pro)
c.7345A>C (p.Thr2449Pro)
c.7357A>C (p.Thr2453Pro)
c.5482A>C (p.Thr1828Pro)
 gnomAD v4
6g.129464384A>GCA365620605LAMA2c.7087A>G (p.Thr2363Ala)
c.7351A>G (p.Thr2451Ala)
n.718A>G
n.426A>G
c.7084A>G (p.Thr2362Ala)
c.7345A>G (p.Thr2449Ala)
c.7357A>G (p.Thr2453Ala)
c.5482A>G (p.Thr1828Ala)
6g.129464384A>TCA365620610LAMA2c.7087A>T (p.Thr2363Ser)
c.7351A>T (p.Thr2451Ser)
n.718A>T
n.426A>T
c.7084A>T (p.Thr2362Ser)
c.7345A>T (p.Thr2449Ser)
c.7357A>T (p.Thr2453Ser)
c.5482A>T (p.Thr1828Ser)
 gnomAD v4
6g.129464385C>ACA365620620LAMA2c.7088C>A (p.Thr2363Asn)
c.7352C>A (p.Thr2451Asn)
n.719C>A
n.427C>A
c.7085C>A (p.Thr2362Asn)
c.7346C>A (p.Thr2449Asn)
c.7358C>A (p.Thr2453Asn)
c.5483C>A (p.Thr1828Asn)
6g.129464385C=CA1663191589LAMA2c.7088C= (p.Thr2363=)
c.7352C= (p.Thr2451=)
n.719C=
n.427C=
c.7085C= (p.Thr2362=)
c.7346C= (p.Thr2449=)
c.7358C= (p.Thr2453=)
c.5483C= (p.Thr1828=)
6g.129464385C>GCA365620618LAMA2c.7088C>G (p.Thr2363Ser)
c.7352C>G (p.Thr2451Ser)
n.719C>G
n.427C>G
c.7085C>G (p.Thr2362Ser)
c.7346C>G (p.Thr2449Ser)
c.7358C>G (p.Thr2453Ser)
c.5483C>G (p.Thr1828Ser)
6g.129464385C>TCA3994438LAMA2c.7088C>T (p.Thr2363Ile)
c.7352C>T (p.Thr2451Ile)
n.719C>T
n.427C>T
c.7085C>T (p.Thr2362Ile)
c.7346C>T (p.Thr2449Ile)
c.7358C>T (p.Thr2453Ile)
c.5483C>T (p.Thr1828Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464386T>ACA451925971LAMA2c.7089T>A (p.Thr2363=)
c.7353T>A (p.Thr2451=)
n.720T>A
n.428T>A
c.7086T>A (p.Thr2362=)
c.7347T>A (p.Thr2449=)
c.7359T>A (p.Thr2453=)
c.5484T>A (p.Thr1828=)
6g.129464386T>CCA451925972LAMA2c.7089T>C (p.Thr2363=)
c.7353T>C (p.Thr2451=)
n.720T>C
n.428T>C
c.7086T>C (p.Thr2362=)
c.7347T>C (p.Thr2449=)
c.7359T>C (p.Thr2453=)
c.5484T>C (p.Thr1828=)
6g.129464386T>GCA451925973LAMA2c.7089T>G (p.Thr2363=)
c.7353T>G (p.Thr2451=)
n.720T>G
n.428T>G
c.7086T>G (p.Thr2362=)
c.7347T>G (p.Thr2449=)
c.7359T>G (p.Thr2453=)
c.5484T>G (p.Thr1828=)
6g.129464387G>ACA3994439LAMA2c.7090G>A (p.Val2364Ile)
c.7354G>A (p.Val2452Ile)
n.721G>A
n.429G>A
c.7087G>A (p.Val2363Ile)
c.7348G>A (p.Val2450Ile)
c.7360G>A (p.Val2454Ile)
c.5485G>A (p.Val1829Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464387G>CCA365620633LAMA2c.7090G>C (p.Val2364Leu)
c.7354G>C (p.Val2452Leu)
n.721G>C
n.429G>C
c.7087G>C (p.Val2363Leu)
c.7348G>C (p.Val2450Leu)
c.7360G>C (p.Val2454Leu)
c.5485G>C (p.Val1829Leu)
6g.129464387G=CA1663191594LAMA2c.7090G= (p.Val2364=)
c.7354G= (p.Val2452=)
n.721G=
n.429G=
c.7087G= (p.Val2363=)
c.7348G= (p.Val2450=)
c.7360G= (p.Val2454=)
c.5485G= (p.Val1829=)
6g.129464387G>TCA365620635LAMA2c.7090G>T (p.Val2364Phe)
c.7354G>T (p.Val2452Phe)
n.721G>T
n.429G>T
c.7087G>T (p.Val2363Phe)
c.7348G>T (p.Val2450Phe)
c.7360G>T (p.Val2454Phe)
c.5485G>T (p.Val1829Phe)
6g.129464388T>ACA365620639LAMA2c.7091T>A (p.Val2364Asp)
c.7355T>A (p.Val2452Asp)
n.722T>A
n.430T>A
c.7088T>A (p.Val2363Asp)
c.7349T>A (p.Val2450Asp)
c.7361T>A (p.Val2454Asp)
c.5486T>A (p.Val1829Asp)
 gnomAD v4
6g.129464388T>CCA365620641LAMA2c.7091T>C (p.Val2364Ala)
c.7355T>C (p.Val2452Ala)
n.722T>C
n.430T>C
c.7088T>C (p.Val2363Ala)
c.7349T>C (p.Val2450Ala)
c.7361T>C (p.Val2454Ala)
c.5486T>C (p.Val1829Ala)
6g.129464388T>GCA365620642LAMA2c.7091T>G (p.Val2364Gly)
c.7355T>G (p.Val2452Gly)
n.722T>G
n.430T>G
c.7088T>G (p.Val2363Gly)
c.7349T>G (p.Val2450Gly)
c.7361T>G (p.Val2454Gly)
c.5486T>G (p.Val1829Gly)
6g.129464389C>ACA451925977LAMA2c.7092C>A (p.Val2364=)
c.7356C>A (p.Val2452=)
n.723C>A
n.431C>A
c.7089C>A (p.Val2363=)
c.7350C>A (p.Val2450=)
c.7362C>A (p.Val2454=)
c.5487C>A (p.Val1829=)
6g.129464389C>GCA451925978LAMA2c.7092C>G (p.Val2364=)
c.7356C>G (p.Val2452=)
n.723C>G
n.431C>G
c.7089C>G (p.Val2363=)
c.7350C>G (p.Val2450=)
c.7362C>G (p.Val2454=)
c.5487C>G (p.Val1829=)
6g.129464389C>TCA451925979LAMA2c.7092C>T (p.Val2364=)
c.7356C>T (p.Val2452=)
n.723C>T
n.431C>T
c.7089C>T (p.Val2363=)
c.7350C>T (p.Val2450=)
c.7362C>T (p.Val2454=)
c.5487C>T (p.Val1829=)
6g.129464390A>CCA365620644LAMA2c.7093A>C (p.Met2365Leu)
c.7357A>C (p.Met2453Leu)
n.724A>C
n.432A>C
c.7090A>C (p.Met2364Leu)
c.7351A>C (p.Met2451Leu)
c.7363A>C (p.Met2455Leu)
c.5488A>C (p.Met1830Leu)
6g.129464390A>GCA365620647LAMA2c.7093A>G (p.Met2365Val)
c.7357A>G (p.Met2453Val)
n.724A>G
n.432A>G
c.7090A>G (p.Met2364Val)
c.7351A>G (p.Met2451Val)
c.7363A>G (p.Met2455Val)
c.5488A>G (p.Met1830Val)
6g.129464390A>TCA365620650LAMA2c.7093A>T (p.Met2365Leu)
c.7357A>T (p.Met2453Leu)
n.724A>T
n.432A>T
c.7090A>T (p.Met2364Leu)
c.7351A>T (p.Met2451Leu)
c.7363A>T (p.Met2455Leu)
c.5488A>T (p.Met1830Leu)

Number of alleles fetched