Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129465139_129465146delinsTAATAGAGCA1663192554LAMA2c.7156-6_7157delinsTAATAGAG
c.7420-6_7421delinsTAATAGAG
n.787-6_788delinsTAATAGAG
n.495-6_496delinsTAATAGAG
c.7153-6_7154delinsTAATAGAG
c.7414-6_7415delinsTAATAGAG
c.7426-6_7427delinsTAATAGAG
c.5551-6_5552delinsTAATAGAG
6g.129465140_129465146delinsTCA658657619LAMA2c.7156-5_7157delinsT
c.7420-5_7421delinsT
n.787-5_788delinsT
n.495-5_496delinsT
c.7153-5_7154delinsT
c.7414-5_7415delinsT
c.7426-5_7427delinsT
c.5551-5_5552delinsT
ClinVar dbSNP
6g.129465143A>CCA365621243LAMA2c.7156-2A>C (n.7156-2A>C)
c.7420-2A>C (n.7420-2A>C)
n.787-2A>C
n.495-2A>C
c.7153-2A>C (n.7153-2A>C)
c.7414-2A>C (n.7414-2A>C)
c.7426-2A>C (n.7426-2A>C)
c.5551-2A>C (n.5551-2A>C)
6g.129465143A>GCA365621244LAMA2c.7156-2A>G (n.7156-2A>G)
c.7420-2A>G (n.7420-2A>G)
n.787-2A>G
n.495-2A>G
c.7153-2A>G (n.7153-2A>G)
c.7414-2A>G (n.7414-2A>G)
c.7426-2A>G (n.7426-2A>G)
c.5551-2A>G (n.5551-2A>G)
6g.129465143A>TCA365621247LAMA2c.7156-2A>T (n.7156-2A>T)
c.7420-2A>T (n.7420-2A>T)
n.787-2A>T
n.495-2A>T
c.7153-2A>T (n.7153-2A>T)
c.7414-2A>T (n.7414-2A>T)
c.7426-2A>T (n.7426-2A>T)
c.5551-2A>T (n.5551-2A>T)
6g.129465146_129465149delCA2578756821LAMA2c.7157_7160del
c.7421_7424del
n.788_791del
n.496_499del
c.7154_7157del
c.7415_7418del
c.7427_7430del
c.5552_5555del
gnomAD v4
6g.129465144G>ACA365621250LAMA2c.7156-1G>A (n.7156-1G>A)
c.7420-1G>A (n.7420-1G>A)
n.787-1G>A
n.495-1G>A
c.7153-1G>A (n.7153-1G>A)
c.7414-1G>A (n.7414-1G>A)
c.7426-1G>A (n.7426-1G>A)
c.5551-1G>A (n.5551-1G>A)
COSMIC
6g.129465144G>CCA365621249LAMA2c.7156-1G>C (n.7156-1G>C)
c.7420-1G>C (n.7420-1G>C)
n.787-1G>C
n.495-1G>C
c.7153-1G>C (n.7153-1G>C)
c.7414-1G>C (n.7414-1G>C)
c.7426-1G>C (n.7426-1G>C)
c.5551-1G>C (n.5551-1G>C)
6g.129465144G>TCA365621248LAMA2c.7156-1G>T (n.7156-1G>T)
c.7420-1G>T (n.7420-1G>T)
n.787-1G>T
n.495-1G>T
c.7153-1G>T (n.7153-1G>T)
c.7414-1G>T (n.7414-1G>T)
c.7426-1G>T (n.7426-1G>T)
c.5551-1G>T (n.5551-1G>T)
6g.129465145A>CCA451926383LAMA2c.7156A>C (p.Arg2386=)
c.7420A>C (p.Arg2474=)
n.787A>C
n.495A>C
c.7153A>C (p.Arg2385=)
c.7414A>C (p.Arg2472=)
c.7426A>C (p.Arg2476=)
c.5551A>C (p.Arg1851=)
6g.129465145A>GCA365621252LAMA2c.7156A>G (p.Arg2386Gly)
c.7420A>G (p.Arg2474Gly)
n.787A>G
n.495A>G
c.7153A>G (p.Arg2385Gly)
c.7414A>G (p.Arg2472Gly)
c.7426A>G (p.Arg2476Gly)
c.5551A>G (p.Arg1851Gly)
6g.129465145A>TCA365621253LAMA2c.7156A>T (p.Arg2386Ter)
c.7420A>T (p.Arg2474Ter)
n.787A>T
n.495A>T
c.7153A>T (p.Arg2385Ter)
c.7414A>T (p.Arg2472Ter)
c.7426A>T (p.Arg2476Ter)
c.5551A>T (p.Arg1851Ter)
6g.129465146G>ACA365621255LAMA2c.7157G>A (p.Arg2386Lys)
c.7421G>A (p.Arg2474Lys)
n.788G>A
n.496G>A
c.7154G>A (p.Arg2385Lys)
c.7415G>A (p.Arg2472Lys)
c.7427G>A (p.Arg2476Lys)
c.5552G>A (p.Arg1851Lys)
6g.129465146G>CCA365621257LAMA2c.7157G>C (p.Arg2386Thr)
c.7421G>C (p.Arg2474Thr)
n.788G>C
n.496G>C
c.7154G>C (p.Arg2385Thr)
c.7415G>C (p.Arg2472Thr)
c.7427G>C (p.Arg2476Thr)
c.5552G>C (p.Arg1851Thr)
6g.129465146G>TCA365621259LAMA2c.7157G>T (p.Arg2386Ile)
c.7421G>T (p.Arg2474Ile)
n.788G>T
n.496G>T
c.7154G>T (p.Arg2385Ile)
c.7415G>T (p.Arg2472Ile)
c.7427G>T (p.Arg2476Ile)
c.5552G>T (p.Arg1851Ile)
6g.129465147A>CCA365621261LAMA2c.7158A>C (p.Arg2386Ser)
c.7422A>C (p.Arg2474Ser)
n.789A>C
n.497A>C
c.7155A>C (p.Arg2385Ser)
c.7416A>C (p.Arg2472Ser)
c.7428A>C (p.Arg2476Ser)
c.5553A>C (p.Arg1851Ser)
6g.129465147A>GCA451926386LAMA2c.7158A>G (p.Arg2386=)
c.7422A>G (p.Arg2474=)
n.789A>G
n.497A>G
c.7155A>G (p.Arg2385=)
c.7416A>G (p.Arg2472=)
c.7428A>G (p.Arg2476=)
c.5553A>G (p.Arg1851=)
6g.129465147A>TCA365621263LAMA2c.7158A>T (p.Arg2386Ser)
c.7422A>T (p.Arg2474Ser)
n.789A>T
n.497A>T
c.7155A>T (p.Arg2385Ser)
c.7416A>T (p.Arg2472Ser)
c.7428A>T (p.Arg2476Ser)
c.5553A>T (p.Arg1851Ser)
gnomAD v4
6g.129465148G>ACA365621265LAMA2c.7159G>A (p.Asp2387Asn)
c.7423G>A (p.Asp2475Asn)
n.790G>A
n.498G>A
c.7156G>A (p.Asp2386Asn)
c.7417G>A (p.Asp2473Asn)
c.7429G>A (p.Asp2477Asn)
c.5554G>A (p.Asp1852Asn)
6g.129465148G>CCA365621266LAMA2c.7159G>C (p.Asp2387His)
c.7423G>C (p.Asp2475His)
n.790G>C
n.498G>C
c.7156G>C (p.Asp2386His)
c.7417G>C (p.Asp2473His)
c.7429G>C (p.Asp2477His)
c.5554G>C (p.Asp1852His)
6g.129465148G>TCA365621267LAMA2c.7159G>T (p.Asp2387Tyr)
c.7423G>T (p.Asp2475Tyr)
n.790G>T
n.498G>T
c.7156G>T (p.Asp2386Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7429G>T (p.Asp2477Tyr)
c.5554G>T (p.Asp1852Tyr)
6g.129465149A>CCA365621268LAMA2c.7160A>C (p.Asp2387Ala)
c.7424A>C (p.Asp2475Ala)
n.791A>C
n.499A>C
c.7157A>C (p.Asp2386Ala)
c.7418A>C (p.Asp2473Ala)
c.7430A>C (p.Asp2477Ala)
c.5555A>C (p.Asp1852Ala)
6g.129465149A>GCA365621269LAMA2c.7160A>G (p.Asp2387Gly)
c.7424A>G (p.Asp2475Gly)
n.791A>G
n.499A>G
c.7157A>G (p.Asp2386Gly)
c.7418A>G (p.Asp2473Gly)
c.7430A>G (p.Asp2477Gly)
c.5555A>G (p.Asp1852Gly)
6g.129465149A>TCA365621271LAMA2c.7160A>T (p.Asp2387Val)
c.7424A>T (p.Asp2475Val)
n.791A>T
n.499A>T
c.7157A>T (p.Asp2386Val)
c.7418A>T (p.Asp2473Val)
c.7430A>T (p.Asp2477Val)
c.5555A>T (p.Asp1852Val)
6g.129465150T>ACA365621273LAMA2c.7161T>A (p.Asp2387Glu)
c.7425T>A (p.Asp2475Glu)
n.792T>A
n.500T>A
c.7158T>A (p.Asp2386Glu)
c.7419T>A (p.Asp2473Glu)
c.7431T>A (p.Asp2477Glu)
c.5556T>A (p.Asp1852Glu)
6g.129465150T>CCA146892031LAMA2c.7161T>C (p.Asp2387=)
c.7425T>C (p.Asp2475=)
n.792T>C
n.500T>C
c.7158T>C (p.Asp2386=)
c.7419T>C (p.Asp2473=)
c.7431T>C (p.Asp2477=)
c.5556T>C (p.Asp1852=)
dbSNP
6g.129465150T>GCA365621278LAMA2c.7161T>G (p.Asp2387Glu)
c.7425T>G (p.Asp2475Glu)
n.792T>G
n.500T>G
c.7158T>G (p.Asp2386Glu)
c.7419T>G (p.Asp2473Glu)
c.7431T>G (p.Asp2477Glu)
c.5556T>G (p.Asp1852Glu)
dbSNP gnomAD v3 gnomAD v4
6g.129465150T=CA1663192568LAMA2c.7161T= (p.Asp2387=)
c.7425T= (p.Asp2475=)
n.792T=
n.500T=
c.7158T= (p.Asp2386=)
c.7419T= (p.Asp2473=)
c.7431T= (p.Asp2477=)
c.5556T= (p.Asp1852=)
6g.129465151T>ACA365621279LAMA2c.7162T>A (p.Phe2388Ile)
c.7426T>A (p.Phe2476Ile)
n.793T>A
n.501T>A
c.7159T>A (p.Phe2387Ile)
c.7420T>A (p.Phe2474Ile)
c.7432T>A (p.Phe2478Ile)
c.5557T>A (p.Phe1853Ile)
6g.129465151T>CCA365621281LAMA2c.7162T>C (p.Phe2388Leu)
c.7426T>C (p.Phe2476Leu)
n.793T>C
n.501T>C
c.7159T>C (p.Phe2387Leu)
c.7420T>C (p.Phe2474Leu)
c.7432T>C (p.Phe2478Leu)
c.5557T>C (p.Phe1853Leu)
6g.129465151T>GCA365621284LAMA2c.7162T>G (p.Phe2388Val)
c.7426T>G (p.Phe2476Val)
n.793T>G
n.501T>G
c.7159T>G (p.Phe2387Val)
c.7420T>G (p.Phe2474Val)
c.7432T>G (p.Phe2478Val)
c.5557T>G (p.Phe1853Val)
6g.129465152T>ACA365621285LAMA2c.7163T>A (p.Phe2388Tyr)
c.7427T>A (p.Phe2476Tyr)
n.794T>A
n.502T>A
c.7160T>A (p.Phe2387Tyr)
c.7421T>A (p.Phe2474Tyr)
c.7433T>A (p.Phe2478Tyr)
c.5558T>A (p.Phe1853Tyr)
6g.129465152T>CCA365621288LAMA2c.7163T>C (p.Phe2388Ser)
c.7427T>C (p.Phe2476Ser)
n.794T>C
n.502T>C
c.7160T>C (p.Phe2387Ser)
c.7421T>C (p.Phe2474Ser)
c.7433T>C (p.Phe2478Ser)
c.5558T>C (p.Phe1853Ser)
6g.129465152T>GCA365621289LAMA2c.7163T>G (p.Phe2388Cys)
c.7427T>G (p.Phe2476Cys)
n.794T>G
n.502T>G
c.7160T>G (p.Phe2387Cys)
c.7421T>G (p.Phe2474Cys)
c.7433T>G (p.Phe2478Cys)
c.5558T>G (p.Phe1853Cys)
6g.129465153C>ACA365621290LAMA2c.7164C>A (p.Phe2388Leu)
c.7428C>A (p.Phe2476Leu)
n.795C>A
n.503C>A
c.7161C>A (p.Phe2387Leu)
c.7422C>A (p.Phe2474Leu)
c.7434C>A (p.Phe2478Leu)
c.5559C>A (p.Phe1853Leu)
gnomAD v4
6g.129465153C=CA1663192573LAMA2c.7164C= (p.Phe2388=)
c.7428C= (p.Phe2476=)
n.795C=
n.503C=
c.7161C= (p.Phe2387=)
c.7422C= (p.Phe2474=)
c.7434C= (p.Phe2478=)
c.5559C= (p.Phe1853=)
6g.129465153C>GCA365621291LAMA2c.7164C>G (p.Phe2388Leu)
c.7428C>G (p.Phe2476Leu)
n.795C>G
n.503C>G
c.7161C>G (p.Phe2387Leu)
c.7422C>G (p.Phe2474Leu)
c.7434C>G (p.Phe2478Leu)
c.5559C>G (p.Phe1853Leu)
6g.129465153C>TCA451926391LAMA2c.7164C>T (p.Phe2388=)
c.7428C>T (p.Phe2476=)
n.795C>T
n.503C>T
c.7161C>T (p.Phe2387=)
c.7422C>T (p.Phe2474=)
c.7434C>T (p.Phe2478=)
c.5559C>T (p.Phe1853=)
dbSNP gnomAD v2 gnomAD v4
6g.129465154A>CCA365621292LAMA2c.7165A>C (p.Met2389Leu)
c.7429A>C (p.Met2477Leu)
n.796A>C
n.504A>C
c.7162A>C (p.Met2388Leu)
c.7423A>C (p.Met2475Leu)
c.7435A>C (p.Met2479Leu)
c.5560A>C (p.Met1854Leu)
6g.129465154A>GCA365621295LAMA2c.7165A>G (p.Met2389Val)
c.7429A>G (p.Met2477Val)
n.796A>G
n.504A>G
c.7162A>G (p.Met2388Val)
c.7423A>G (p.Met2475Val)
c.7435A>G (p.Met2479Val)
c.5560A>G (p.Met1854Val)
gnomAD v4
6g.129465154A>TCA365621298LAMA2c.7165A>T (p.Met2389Leu)
c.7429A>T (p.Met2477Leu)
n.796A>T
n.504A>T
c.7162A>T (p.Met2388Leu)
c.7423A>T (p.Met2475Leu)
c.7435A>T (p.Met2479Leu)
c.5560A>T (p.Met1854Leu)
6g.129465155T>ACA365621302LAMA2c.7166T>A (p.Met2389Lys)
c.7430T>A (p.Met2477Lys)
n.797T>A
n.505T>A
c.7163T>A (p.Met2388Lys)
c.7424T>A (p.Met2475Lys)
c.7436T>A (p.Met2479Lys)
c.5561T>A (p.Met1854Lys)
6g.129465155T>CCA365621303LAMA2c.7166T>C (p.Met2389Thr)
c.7430T>C (p.Met2477Thr)
n.797T>C
n.505T>C
c.7163T>C (p.Met2388Thr)
c.7424T>C (p.Met2475Thr)
c.7436T>C (p.Met2479Thr)
c.5561T>C (p.Met1854Thr)
6g.129465155T>GCA365621306LAMA2c.7166T>G (p.Met2389Arg)
c.7430T>G (p.Met2477Arg)
n.797T>G
n.505T>G
c.7163T>G (p.Met2388Arg)
c.7424T>G (p.Met2475Arg)
c.7436T>G (p.Met2479Arg)
c.5561T>G (p.Met1854Arg)
gnomAD v4
6g.129465156G>ACA365621326LAMA2c.7167G>A (p.Met2389Ile)
c.7431G>A (p.Met2477Ile)
n.798G>A
n.506G>A
c.7164G>A (p.Met2388Ile)
c.7425G>A (p.Met2475Ile)
c.7437G>A (p.Met2479Ile)
c.5562G>A (p.Met1854Ile)
gnomAD v4
6g.129465156G>CCA365621323LAMA2c.7167G>C (p.Met2389Ile)
c.7431G>C (p.Met2477Ile)
n.798G>C
n.506G>C
c.7164G>C (p.Met2388Ile)
c.7425G>C (p.Met2475Ile)
c.7437G>C (p.Met2479Ile)
c.5562G>C (p.Met1854Ile)
6g.129465156G>TCA365621309LAMA2c.7167G>T (p.Met2389Ile)
c.7431G>T (p.Met2477Ile)
n.798G>T
n.506G>T
c.7164G>T (p.Met2388Ile)
c.7425G>T (p.Met2475Ile)
c.7437G>T (p.Met2479Ile)
c.5562G>T (p.Met1854Ile)
6g.129465157A>CCA365621329LAMA2c.7168A>C (p.Ser2390Arg)
c.7432A>C (p.Ser2478Arg)
n.799A>C
n.507A>C
c.7165A>C (p.Ser2389Arg)
c.7426A>C (p.Ser2476Arg)
c.7438A>C (p.Ser2480Arg)
c.5563A>C (p.Ser1855Arg)
6g.129465157A>GCA365621330LAMA2c.7168A>G (p.Ser2390Gly)
c.7432A>G (p.Ser2478Gly)
n.799A>G
n.507A>G
c.7165A>G (p.Ser2389Gly)
c.7426A>G (p.Ser2476Gly)
c.7438A>G (p.Ser2480Gly)
c.5563A>G (p.Ser1855Gly)
6g.129465157A>TCA365621331LAMA2c.7168A>T (p.Ser2390Cys)
c.7432A>T (p.Ser2478Cys)
n.799A>T
n.507A>T
c.7165A>T (p.Ser2389Cys)
c.7426A>T (p.Ser2476Cys)
c.7438A>T (p.Ser2480Cys)
c.5563A>T (p.Ser1855Cys)
6g.129465158G>ACA365621332LAMA2c.7169G>A (p.Ser2390Asn)
c.7433G>A (p.Ser2478Asn)
n.800G>A
n.508G>A
c.7166G>A (p.Ser2389Asn)
c.7427G>A (p.Ser2476Asn)
c.7439G>A (p.Ser2480Asn)
c.5564G>A (p.Ser1855Asn)
6g.129465158G>CCA365621333LAMA2c.7169G>C (p.Ser2390Thr)
c.7433G>C (p.Ser2478Thr)
n.800G>C
n.508G>C
c.7166G>C (p.Ser2389Thr)
c.7427G>C (p.Ser2476Thr)
c.7439G>C (p.Ser2480Thr)
c.5564G>C (p.Ser1855Thr)
gnomAD v4
6g.129465158G>TCA365621338LAMA2c.7169G>T (p.Ser2390Ile)
c.7433G>T (p.Ser2478Ile)
n.800G>T
n.508G>T
c.7166G>T (p.Ser2389Ile)
c.7427G>T (p.Ser2476Ile)
c.7439G>T (p.Ser2480Ile)
c.5564G>T (p.Ser1855Ile)
6g.129465159T>ACA365621341LAMA2c.7170T>A (p.Ser2390Arg)
c.7434T>A (p.Ser2478Arg)
n.801T>A
n.509T>A
c.7167T>A (p.Ser2389Arg)
c.7428T>A (p.Ser2476Arg)
c.7440T>A (p.Ser2480Arg)
c.5565T>A (p.Ser1855Arg)
6g.129465159T>CCA451926393LAMA2c.7170T>C (p.Ser2390=)
c.7434T>C (p.Ser2478=)
n.801T>C
n.509T>C
c.7167T>C (p.Ser2389=)
c.7428T>C (p.Ser2476=)
c.7440T>C (p.Ser2480=)
c.5565T>C (p.Ser1855=)
ClinVar dbSNP
6g.129465159T>GCA365621349LAMA2c.7170T>G (p.Ser2390Arg)
c.7434T>G (p.Ser2478Arg)
n.801T>G
n.509T>G
c.7167T>G (p.Ser2389Arg)
c.7428T>G (p.Ser2476Arg)
c.7440T>G (p.Ser2480Arg)
c.5565T>G (p.Ser1855Arg)
6g.129465160G>ACA365621352LAMA2c.7171G>A (p.Val2391Met)
c.7435G>A (p.Val2479Met)
n.802G>A
n.510G>A
c.7168G>A (p.Val2390Met)
c.7429G>A (p.Val2477Met)
c.7441G>A (p.Val2481Met)
c.5566G>A (p.Val1856Met)
dbSNP
6g.129465160G>CCA3994476LAMA2c.7171G>C (p.Val2391Leu)
c.7435G>C (p.Val2479Leu)
n.802G>C
n.510G>C
c.7168G>C (p.Val2390Leu)
c.7429G>C (p.Val2477Leu)
c.7441G>C (p.Val2481Leu)
c.5566G>C (p.Val1856Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465160G=CA1663192577LAMA2c.7171G= (p.Val2391=)
c.7435G= (p.Val2479=)
n.802G=
n.510G=
c.7168G= (p.Val2390=)
c.7429G= (p.Val2477=)
c.7441G= (p.Val2481=)
c.5566G= (p.Val1856=)
6g.129465160G>TCA365621356LAMA2c.7171G>T (p.Val2391Leu)
c.7435G>T (p.Val2479Leu)
n.802G>T
n.510G>T
c.7168G>T (p.Val2390Leu)
c.7429G>T (p.Val2477Leu)
c.7441G>T (p.Val2481Leu)
c.5566G>T (p.Val1856Leu)
dbSNP
6g.129465161T>ACA365621358LAMA2c.7172T>A (p.Val2391Glu)
c.7436T>A (p.Val2479Glu)
n.803T>A
n.511T>A
c.7169T>A (p.Val2390Glu)
c.7430T>A (p.Val2477Glu)
c.7442T>A (p.Val2481Glu)
c.5567T>A (p.Val1856Glu)
6g.129465161T>CCA365621361LAMA2c.7172T>C (p.Val2391Ala)
c.7436T>C (p.Val2479Ala)
n.803T>C
n.511T>C
c.7169T>C (p.Val2390Ala)
c.7430T>C (p.Val2477Ala)
c.7442T>C (p.Val2481Ala)
c.5567T>C (p.Val1856Ala)
6g.129465161T>GCA365621366LAMA2c.7172T>G (p.Val2391Gly)
c.7436T>G (p.Val2479Gly)
n.803T>G
n.511T>G
c.7169T>G (p.Val2390Gly)
c.7430T>G (p.Val2477Gly)
c.7442T>G (p.Val2481Gly)
c.5567T>G (p.Val1856Gly)
6g.129465162G>ACA451926394LAMA2c.7173G>A (p.Val2391=)
c.7437G>A (p.Val2479=)
n.804G>A
n.512G>A
c.7170G>A (p.Val2390=)
c.7431G>A (p.Val2477=)
c.7443G>A (p.Val2481=)
c.5568G>A (p.Val1856=)
6g.129465162G>CCA451926395LAMA2c.7173G>C (p.Val2391=)
c.7437G>C (p.Val2479=)
n.804G>C
n.512G>C
c.7170G>C (p.Val2390=)
c.7431G>C (p.Val2477=)
c.7443G>C (p.Val2481=)
c.5568G>C (p.Val1856=)
6g.129465162G>TCA451926396LAMA2c.7173G>T (p.Val2391=)
c.7437G>T (p.Val2479=)
n.804G>T
n.512G>T
c.7170G>T (p.Val2390=)
c.7431G>T (p.Val2477=)
c.7443G>T (p.Val2481=)
c.5568G>T (p.Val1856=)
6g.129465163G>ACA365621376LAMA2c.7174G>A (p.Glu2392Lys)
c.7438G>A (p.Glu2480Lys)
n.805G>A
n.513G>A
c.7171G>A (p.Glu2391Lys)
c.7432G>A (p.Glu2478Lys)
c.7444G>A (p.Glu2482Lys)
c.5569G>A (p.Glu1857Lys)
6g.129465163G>CCA365621379LAMA2c.7174G>C (p.Glu2392Gln)
c.7438G>C (p.Glu2480Gln)
n.805G>C
n.513G>C
c.7171G>C (p.Glu2391Gln)
c.7432G>C (p.Glu2478Gln)
c.7444G>C (p.Glu2482Gln)
c.5569G>C (p.Glu1857Gln)
6g.129465163G>TCA365621369LAMA2c.7174G>T (p.Glu2392Ter)
c.7438G>T (p.Glu2480Ter)
n.805G>T
n.513G>T
c.7171G>T (p.Glu2391Ter)
c.7432G>T (p.Glu2478Ter)
c.7444G>T (p.Glu2482Ter)
c.5569G>T (p.Glu1857Ter)
COSMIC
6g.129465164A>CCA365621381LAMA2c.7175A>C (p.Glu2392Ala)
c.7439A>C (p.Glu2480Ala)
n.806A>C
n.514A>C
c.7172A>C (p.Glu2391Ala)
c.7433A>C (p.Glu2478Ala)
c.7445A>C (p.Glu2482Ala)
c.5570A>C (p.Glu1857Ala)
6g.129465164A>GCA365621382LAMA2c.7175A>G (p.Glu2392Gly)
c.7439A>G (p.Glu2480Gly)
n.806A>G
n.514A>G
c.7172A>G (p.Glu2391Gly)
c.7433A>G (p.Glu2478Gly)
c.7445A>G (p.Glu2482Gly)
c.5570A>G (p.Glu1857Gly)
ClinVar gnomAD v4
6g.129465164A>TCA365621384LAMA2c.7175A>T (p.Glu2392Val)
c.7439A>T (p.Glu2480Val)
n.806A>T
n.514A>T
c.7172A>T (p.Glu2391Val)
c.7433A>T (p.Glu2478Val)
c.7445A>T (p.Glu2482Val)
c.5570A>T (p.Glu1857Val)
6g.129465165G>ACA451926400LAMA2c.7176G>A (p.Glu2392=)
c.7440G>A (p.Glu2480=)
n.807G>A
n.515G>A
c.7173G>A (p.Glu2391=)
c.7434G>A (p.Glu2478=)
c.7446G>A (p.Glu2482=)
c.5571G>A (p.Glu1857=)
ClinVar dbSNP
6g.129465165G>CCA3994477LAMA2c.7176G>C (p.Glu2392Asp)
c.7440G>C (p.Glu2480Asp)
n.807G>C
n.515G>C
c.7173G>C (p.Glu2391Asp)
c.7434G>C (p.Glu2478Asp)
c.7446G>C (p.Glu2482Asp)
c.5571G>C (p.Glu1857Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465165G=CA1663192582LAMA2c.7176G= (p.Glu2392=)
c.7440G= (p.Glu2480=)
n.807G=
n.515G=
c.7173G= (p.Glu2391=)
c.7434G= (p.Glu2478=)
c.7446G= (p.Glu2482=)
c.5571G= (p.Glu1857=)
6g.129465165G>TCA365621395LAMA2c.7176G>T (p.Glu2392Asp)
c.7440G>T (p.Glu2480Asp)
n.807G>T
n.515G>T
c.7173G>T (p.Glu2391Asp)
c.7434G>T (p.Glu2478Asp)
c.7446G>T (p.Glu2482Asp)
c.5571G>T (p.Glu1857Asp)
6g.129465166C>ACA365621408LAMA2c.7177C>A (p.Leu2393Ile)
c.7441C>A (p.Leu2481Ile)
n.808C>A
n.516C>A
c.7174C>A (p.Leu2392Ile)
c.7435C>A (p.Leu2479Ile)
c.7447C>A (p.Leu2483Ile)
c.5572C>A (p.Leu1858Ile)
gnomAD v4
6g.129465166C=CA1663192589LAMA2c.7177C= (p.Leu2393=)
c.7441C= (p.Leu2481=)
n.808C=
n.516C=
c.7174C= (p.Leu2392=)
c.7435C= (p.Leu2479=)
c.7447C= (p.Leu2483=)
c.5572C= (p.Leu1858=)
6g.129465166C>GCA365621403LAMA2c.7177C>G (p.Leu2393Val)
c.7441C>G (p.Leu2481Val)
n.808C>G
n.516C>G
c.7174C>G (p.Leu2392Val)
c.7435C>G (p.Leu2479Val)
c.7447C>G (p.Leu2483Val)
c.5572C>G (p.Leu1858Val)
6g.129465166C>TCA365621401LAMA2c.7177C>T (p.Leu2393Phe)
c.7441C>T (p.Leu2481Phe)
n.808C>T
n.516C>T
c.7174C>T (p.Leu2392Phe)
c.7435C>T (p.Leu2479Phe)
c.7447C>T (p.Leu2483Phe)
c.5572C>T (p.Leu1858Phe)
dbSNP gnomAD v2 gnomAD v4
6g.129465167T>ACA365621412LAMA2c.7178T>A (p.Leu2393His)
c.7442T>A (p.Leu2481His)
n.809T>A
n.517T>A
c.7175T>A (p.Leu2392His)
c.7436T>A (p.Leu2479His)
c.7448T>A (p.Leu2483His)
c.5573T>A (p.Leu1858His)
6g.129465167T>CCA365621420LAMA2c.7178T>C (p.Leu2393Pro)
c.7442T>C (p.Leu2481Pro)
n.809T>C
n.517T>C
c.7175T>C (p.Leu2392Pro)
c.7436T>C (p.Leu2479Pro)
c.7448T>C (p.Leu2483Pro)
c.5573T>C (p.Leu1858Pro)
gnomAD v4
6g.129465167T>GCA365621422LAMA2c.7178T>G (p.Leu2393Arg)
c.7442T>G (p.Leu2481Arg)
n.809T>G
n.517T>G
c.7175T>G (p.Leu2392Arg)
c.7436T>G (p.Leu2479Arg)
c.7448T>G (p.Leu2483Arg)
c.5573T>G (p.Leu1858Arg)
dbSNP gnomAD v3 gnomAD v4
6g.129465167T=CA1663192590LAMA2c.7178T= (p.Leu2393=)
c.7442T= (p.Leu2481=)
n.809T=
n.517T=
c.7175T= (p.Leu2392=)
c.7436T= (p.Leu2479=)
c.7448T= (p.Leu2483=)
c.5573T= (p.Leu1858=)
6g.129465168C>ACA451926406LAMA2c.7179C>A (p.Leu2393=)
c.7443C>A (p.Leu2481=)
n.810C>A
n.518C>A
c.7176C>A (p.Leu2392=)
c.7437C>A (p.Leu2479=)
c.7449C>A (p.Leu2483=)
c.5574C>A (p.Leu1858=)
6g.129465168C>GCA451926405LAMA2c.7179C>G (p.Leu2393=)
c.7443C>G (p.Leu2481=)
n.810C>G
n.518C>G
c.7176C>G (p.Leu2392=)
c.7437C>G (p.Leu2479=)
c.7449C>G (p.Leu2483=)
c.5574C>G (p.Leu1858=)
ClinVar dbSNP
6g.129465168C>TCA451926404LAMA2c.7179C>T (p.Leu2393=)
c.7443C>T (p.Leu2481=)
n.810C>T
n.518C>T
c.7176C>T (p.Leu2392=)
c.7437C>T (p.Leu2479=)
c.7449C>T (p.Leu2483=)
c.5574C>T (p.Leu1858=)
6g.129465169A=CA1663192594LAMA2c.7180A= (p.Thr2394=)
c.7444A= (p.Thr2482=)
n.811A=
n.519A=
c.7177A= (p.Thr2393=)
c.7438A= (p.Thr2480=)
c.7450A= (p.Thr2484=)
c.5575A= (p.Thr1859=)
6g.129465169A>CCA365621429LAMA2c.7180A>C (p.Thr2394Pro)
c.7444A>C (p.Thr2482Pro)
n.811A>C
n.519A>C
c.7177A>C (p.Thr2393Pro)
c.7438A>C (p.Thr2480Pro)
c.7450A>C (p.Thr2484Pro)
c.5575A>C (p.Thr1859Pro)
6g.129465169A>GCA3994478LAMA2c.7180A>G (p.Thr2394Ala)
c.7444A>G (p.Thr2482Ala)
n.811A>G
n.519A>G
c.7177A>G (p.Thr2393Ala)
c.7438A>G (p.Thr2480Ala)
c.7450A>G (p.Thr2484Ala)
c.5575A>G (p.Thr1859Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465169A>TCA365621430LAMA2c.7180A>T (p.Thr2394Ser)
c.7444A>T (p.Thr2482Ser)
n.811A>T
n.519A>T
c.7177A>T (p.Thr2393Ser)
c.7438A>T (p.Thr2480Ser)
c.7450A>T (p.Thr2484Ser)
c.5575A>T (p.Thr1859Ser)
6g.129465169_129465170delinsACCA1663192595LAMA2c.7180_7181delinsAC (p.Thr2394=)
c.7444_7445delinsAC (p.Thr2482=)
n.811_812delinsAC
n.519_520delinsAC
c.7177_7178delinsAC (p.Thr2393=)
c.7438_7439delinsAC (p.Thr2480=)
c.7450_7451delinsAC (p.Thr2484=)
c.5575_5576delinsAC (p.Thr1859=)
6g.129465170delCA915943633LAMA2c.7181del (p.Thr2394MetfsTer5)
c.7445del (p.Thr2482MetfsTer5)
n.812del
n.520del
c.7178del (p.Thr2393MetfsTer5)
c.7439del (p.Thr2480MetfsTer5)
c.7451del (p.Thr2484MetfsTer5)
c.5576del (p.Thr1859MetfsTer5)
ClinVar dbSNP gnomAD v4
6g.129465170C>ACA365621431LAMA2c.7181C>A (p.Thr2394Asn)
c.7445C>A (p.Thr2482Asn)
n.812C>A
n.520C>A
c.7178C>A (p.Thr2393Asn)
c.7439C>A (p.Thr2480Asn)
c.7451C>A (p.Thr2484Asn)
c.5576C>A (p.Thr1859Asn)
COSMIC
6g.129465170C>GCA365621436LAMA2c.7181C>G (p.Thr2394Ser)
c.7445C>G (p.Thr2482Ser)
n.812C>G
n.520C>G
c.7178C>G (p.Thr2393Ser)
c.7439C>G (p.Thr2480Ser)
c.7451C>G (p.Thr2484Ser)
c.5576C>G (p.Thr1859Ser)
6g.129465170C>TCA365621433LAMA2c.7181C>T (p.Thr2394Ile)
c.7445C>T (p.Thr2482Ile)
n.812C>T
n.520C>T
c.7178C>T (p.Thr2393Ile)
c.7439C>T (p.Thr2480Ile)
c.7451C>T (p.Thr2484Ile)
c.5576C>T (p.Thr1859Ile)
gnomAD v4
6g.129465171T>ACA451926408LAMA2c.7182T>A (p.Thr2394=)
c.7446T>A (p.Thr2482=)
n.813T>A
n.521T>A
c.7179T>A (p.Thr2393=)
c.7440T>A (p.Thr2480=)
c.7452T>A (p.Thr2484=)
c.5577T>A (p.Thr1859=)
6g.129465171T>CCA451926409LAMA2c.7182T>C (p.Thr2394=)
c.7446T>C (p.Thr2482=)
n.813T>C
n.521T>C
c.7179T>C (p.Thr2393=)
c.7440T>C (p.Thr2480=)
c.7452T>C (p.Thr2484=)
c.5577T>C (p.Thr1859=)
6g.129465171T>GCA451926410LAMA2c.7182T>G (p.Thr2394=)
c.7446T>G (p.Thr2482=)
n.813T>G
n.521T>G
c.7179T>G (p.Thr2393=)
c.7440T>G (p.Thr2480=)
c.7452T>G (p.Thr2484=)
c.5577T>G (p.Thr1859=)
dbSNP
6g.129465171T=CA1663192600LAMA2c.7182T= (p.Thr2394=)
c.7446T= (p.Thr2482=)
n.813T=
n.521T=
c.7179T= (p.Thr2393=)
c.7440T= (p.Thr2480=)
c.7452T= (p.Thr2484=)
c.5577T= (p.Thr1859=)
6g.129465172G>ACA365621438LAMA2c.7183G>A (p.Asp2395Asn)
c.7447G>A (p.Asp2483Asn)
n.814G>A
n.522G>A
c.7180G>A (p.Asp2394Asn)
c.7441G>A (p.Asp2481Asn)
c.7453G>A (p.Asp2485Asn)
c.5578G>A (p.Asp1860Asn)
6g.129465172G>CCA365621442LAMA2c.7183G>C (p.Asp2395His)
c.7447G>C (p.Asp2483His)
n.814G>C
n.522G>C
c.7180G>C (p.Asp2394His)
c.7441G>C (p.Asp2481His)
c.7453G>C (p.Asp2485His)
c.5578G>C (p.Asp1860His)
6g.129465172G>TCA365621445LAMA2c.7183G>T (p.Asp2395Tyr)
c.7447G>T (p.Asp2483Tyr)
n.814G>T
n.522G>T
c.7180G>T (p.Asp2394Tyr)
c.7441G>T (p.Asp2481Tyr)
c.7453G>T (p.Asp2485Tyr)
c.5578G>T (p.Asp1860Tyr)
6g.129465173A>CCA365621454LAMA2c.7184A>C (p.Asp2395Ala)
c.7448A>C (p.Asp2483Ala)
n.815A>C
n.523A>C
c.7181A>C (p.Asp2394Ala)
c.7442A>C (p.Asp2481Ala)
c.7454A>C (p.Asp2485Ala)
c.5579A>C (p.Asp1860Ala)
6g.129465173A>GCA365621457LAMA2c.7184A>G (p.Asp2395Gly)
c.7448A>G (p.Asp2483Gly)
n.815A>G
n.523A>G
c.7181A>G (p.Asp2394Gly)
c.7442A>G (p.Asp2481Gly)
c.7454A>G (p.Asp2485Gly)
c.5579A>G (p.Asp1860Gly)
6g.129465173A>TCA365621464LAMA2c.7184A>T (p.Asp2395Val)
c.7448A>T (p.Asp2483Val)
n.815A>T
n.523A>T
c.7181A>T (p.Asp2394Val)
c.7442A>T (p.Asp2481Val)
c.7454A>T (p.Asp2485Val)
c.5579A>T (p.Asp1860Val)
6g.129465174T>ACA365621467LAMA2c.7185T>A (p.Asp2395Glu)
c.7449T>A (p.Asp2483Glu)
n.816T>A
n.524T>A
c.7182T>A (p.Asp2394Glu)
c.7443T>A (p.Asp2481Glu)
c.7455T>A (p.Asp2485Glu)
c.5580T>A (p.Asp1860Glu)
6g.129465174T>CCA451926413LAMA2c.7185T>C (p.Asp2395=)
c.7449T>C (p.Asp2483=)
n.816T>C
n.524T>C
c.7182T>C (p.Asp2394=)
c.7443T>C (p.Asp2481=)
c.7455T>C (p.Asp2485=)
c.5580T>C (p.Asp1860=)
6g.129465174T>GCA365621471LAMA2c.7185T>G (p.Asp2395Glu)
c.7449T>G (p.Asp2483Glu)
n.816T>G
n.524T>G
c.7182T>G (p.Asp2394Glu)
c.7443T>G (p.Asp2481Glu)
c.7455T>G (p.Asp2485Glu)
c.5580T>G (p.Asp1860Glu)
6g.129465175G>ACA365621477LAMA2c.7186G>A (p.Gly2396Arg)
c.7450G>A (p.Gly2484Arg)
n.817G>A
n.525G>A
c.7183G>A (p.Gly2395Arg)
c.7444G>A (p.Gly2482Arg)
c.7456G>A (p.Gly2486Arg)
c.5581G>A (p.Gly1861Arg)
ClinVar dbSNP
6g.129465175G>CCA365621487LAMA2c.7186G>C (p.Gly2396Arg)
c.7450G>C (p.Gly2484Arg)
n.817G>C
n.525G>C
c.7183G>C (p.Gly2395Arg)
c.7444G>C (p.Gly2482Arg)
c.7456G>C (p.Gly2486Arg)
c.5581G>C (p.Gly1861Arg)
6g.129465175G=CA1663192602LAMA2c.7186G= (p.Gly2396=)
c.7450G= (p.Gly2484=)
n.817G=
n.525G=
c.7183G= (p.Gly2395=)
c.7444G= (p.Gly2482=)
c.7456G= (p.Gly2486=)
c.5581G= (p.Gly1861=)
6g.129465175G>TCA365621493LAMA2c.7186G>T (p.Gly2396Trp)
c.7450G>T (p.Gly2484Trp)
n.817G>T
n.525G>T
c.7183G>T (p.Gly2395Trp)
c.7444G>T (p.Gly2482Trp)
c.7456G>T (p.Gly2486Trp)
c.5581G>T (p.Gly1861Trp)
6g.129465177delCA2695206953LAMA2c.7188del (p.His2397ThrfsTer2)
c.7452del (p.His2485ThrfsTer2)
n.819del
n.527del
c.7185del (p.His2396ThrfsTer2)
c.7446del (p.His2483ThrfsTer2)
c.7458del (p.His2487ThrfsTer2)
c.5583del (p.His1862ThrfsTer2)
6g.129465176G>ACA3994479LAMA2c.7187G>A (p.Gly2396Glu)
c.7451G>A (p.Gly2484Glu)
n.818G>A
n.526G>A
c.7184G>A (p.Gly2395Glu)
c.7445G>A (p.Gly2482Glu)
c.7457G>A (p.Gly2486Glu)
c.5582G>A (p.Gly1861Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465176G>CCA365621503LAMA2c.7187G>C (p.Gly2396Ala)
c.7451G>C (p.Gly2484Ala)
n.818G>C
n.526G>C
c.7184G>C (p.Gly2395Ala)
c.7445G>C (p.Gly2482Ala)
c.7457G>C (p.Gly2486Ala)
c.5582G>C (p.Gly1861Ala)
6g.129465176G=CA1663192604LAMA2c.7187G= (p.Gly2396=)
c.7451G= (p.Gly2484=)
n.818G=
n.526G=
c.7184G= (p.Gly2395=)
c.7445G= (p.Gly2482=)
c.7457G= (p.Gly2486=)
c.5582G= (p.Gly1861=)
6g.129465176G>TCA365621500LAMA2c.7187G>T (p.Gly2396Val)
c.7451G>T (p.Gly2484Val)
n.818G>T
n.526G>T
c.7184G>T (p.Gly2395Val)
c.7445G>T (p.Gly2482Val)
c.7457G>T (p.Gly2486Val)
c.5582G>T (p.Gly1861Val)
dbSNP gnomAD v2
6g.129465177G>ACA3994480LAMA2c.7188G>A (p.Gly2396=)
c.7452G>A (p.Gly2484=)
n.819G>A
n.527G>A
c.7185G>A (p.Gly2395=)
c.7446G>A (p.Gly2482=)
c.7458G>A (p.Gly2486=)
c.5583G>A (p.Gly1861=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465177G>CCA451926415LAMA2c.7188G>C (p.Gly2396=)
c.7452G>C (p.Gly2484=)
n.819G>C
n.527G>C
c.7185G>C (p.Gly2395=)
c.7446G>C (p.Gly2482=)
c.7458G>C (p.Gly2486=)
c.5583G>C (p.Gly1861=)
6g.129465177G=CA1663192606LAMA2c.7188G= (p.Gly2396=)
c.7452G= (p.Gly2484=)
n.819G=
n.527G=
c.7185G= (p.Gly2395=)
c.7446G= (p.Gly2482=)
c.7458G= (p.Gly2486=)
c.5583G= (p.Gly1861=)
6g.129465177G>TCA451926416LAMA2c.7188G>T (p.Gly2396=)
c.7452G>T (p.Gly2484=)
n.819G>T
n.527G>T
c.7185G>T (p.Gly2395=)
c.7446G>T (p.Gly2482=)
c.7458G>T (p.Gly2486=)
c.5583G>T (p.Gly1861=)
6g.129465178C>ACA365621525LAMA2c.7189C>A (p.His2397Asn)
c.7453C>A (p.His2485Asn)
n.820C>A
n.528C>A
c.7186C>A (p.His2396Asn)
c.7447C>A (p.His2483Asn)
c.7459C>A (p.His2487Asn)
c.5584C>A (p.His1862Asn)
6g.129465178C>GCA365621511LAMA2c.7189C>G (p.His2397Asp)
c.7453C>G (p.His2485Asp)
n.820C>G
n.528C>G
c.7186C>G (p.His2396Asp)
c.7447C>G (p.His2483Asp)
c.7459C>G (p.His2487Asp)
c.5584C>G (p.His1862Asp)
6g.129465178C>TCA365621521LAMA2c.7189C>T (p.His2397Tyr)
c.7453C>T (p.His2485Tyr)
n.820C>T
n.528C>T
c.7186C>T (p.His2396Tyr)
c.7447C>T (p.His2483Tyr)
c.7459C>T (p.His2487Tyr)
c.5584C>T (p.His1862Tyr)
6g.129465179A=CA1663192608LAMA2c.7190A= (p.His2397=)
c.7454A= (p.His2485=)
n.821A=
n.529A=
c.7187A= (p.His2396=)
c.7448A= (p.His2483=)
c.7460A= (p.His2487=)
c.5585A= (p.His1862=)
6g.129465179A>CCA146892057LAMA2c.7190A>C (p.His2397Pro)
c.7454A>C (p.His2485Pro)
n.821A>C
n.529A>C
c.7187A>C (p.His2396Pro)
c.7448A>C (p.His2483Pro)
c.7460A>C (p.His2487Pro)
c.5585A>C (p.His1862Pro)
ClinVar dbSNP gnomAD v4
6g.129465179A>GCA3994481LAMA2c.7190A>G (p.His2397Arg)
c.7454A>G (p.His2485Arg)
n.821A>G
n.529A>G
c.7187A>G (p.His2396Arg)
c.7448A>G (p.His2483Arg)
c.7460A>G (p.His2487Arg)
c.5585A>G (p.His1862Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465179A>TCA365621533LAMA2c.7190A>T (p.His2397Leu)
c.7454A>T (p.His2485Leu)
n.821A>T
n.529A>T
c.7187A>T (p.His2396Leu)
c.7448A>T (p.His2483Leu)
c.7460A>T (p.His2487Leu)
c.5585A>T (p.His1862Leu)
6g.129465180C>ACA365621538LAMA2c.7191C>A (p.His2397Gln)
c.7455C>A (p.His2485Gln)
n.822C>A
n.530C>A
c.7188C>A (p.His2396Gln)
c.7449C>A (p.His2483Gln)
c.7461C>A (p.His2487Gln)
c.5586C>A (p.His1862Gln)
6g.129465180C>GCA365621541LAMA2c.7191C>G (p.His2397Gln)
c.7455C>G (p.His2485Gln)
n.822C>G
n.530C>G
c.7188C>G (p.His2396Gln)
c.7449C>G (p.His2483Gln)
c.7461C>G (p.His2487Gln)
c.5586C>G (p.His1862Gln)
6g.129465180C>TCA451926418LAMA2c.7191C>T (p.His2397=)
c.7455C>T (p.His2485=)
n.822C>T
n.530C>T
c.7188C>T (p.His2396=)
c.7449C>T (p.His2483=)
c.7461C>T (p.His2487=)
c.5586C>T (p.His1862=)
ClinVar dbSNP
6g.129465181A=CA1663192611LAMA2c.7192A= (p.Ile2398=)
c.7456A= (p.Ile2486=)
n.823A=
n.531A=
c.7189A= (p.Ile2397=)
c.7450A= (p.Ile2484=)
c.7462A= (p.Ile2488=)
c.5587A= (p.Ile1863=)
6g.129465181A>CCA365621545LAMA2c.7192A>C (p.Ile2398Leu)
c.7456A>C (p.Ile2486Leu)
n.823A>C
n.531A>C
c.7189A>C (p.Ile2397Leu)
c.7450A>C (p.Ile2484Leu)
c.7462A>C (p.Ile2488Leu)
c.5587A>C (p.Ile1863Leu)
6g.129465181A>GCA365621547LAMA2c.7192A>G (p.Ile2398Val)
c.7456A>G (p.Ile2486Val)
n.823A>G
n.531A>G
c.7189A>G (p.Ile2397Val)
c.7450A>G (p.Ile2484Val)
c.7462A>G (p.Ile2488Val)
c.5587A>G (p.Ile1863Val)
dbSNP
6g.129465181A>TCA365621553LAMA2c.7192A>T (p.Ile2398Leu)
c.7456A>T (p.Ile2486Leu)
n.823A>T
n.531A>T
c.7189A>T (p.Ile2397Leu)
c.7450A>T (p.Ile2484Leu)
c.7462A>T (p.Ile2488Leu)
c.5587A>T (p.Ile1863Leu)
6g.129465182T>ACA365621566LAMA2c.7193T>A (p.Ile2398Lys)
c.7457T>A (p.Ile2486Lys)
n.824T>A
n.532T>A
c.7190T>A (p.Ile2397Lys)
c.7451T>A (p.Ile2484Lys)
c.7463T>A (p.Ile2488Lys)
c.5588T>A (p.Ile1863Lys)
6g.129465182T>CCA365621559LAMA2c.7193T>C (p.Ile2398Thr)
c.7457T>C (p.Ile2486Thr)
n.824T>C
n.532T>C
c.7190T>C (p.Ile2397Thr)
c.7451T>C (p.Ile2484Thr)
c.7463T>C (p.Ile2488Thr)
c.5588T>C (p.Ile1863Thr)
6g.129465182T>GCA365621557LAMA2c.7193T>G (p.Ile2398Arg)
c.7457T>G (p.Ile2486Arg)
n.824T>G
n.532T>G
c.7190T>G (p.Ile2397Arg)
c.7451T>G (p.Ile2484Arg)
c.7463T>G (p.Ile2488Arg)
c.5588T>G (p.Ile1863Arg)
6g.129465183A>CCA451926422LAMA2c.7194A>C (p.Ile2398=)
c.7458A>C (p.Ile2486=)
n.825A>C
n.533A>C
c.7191A>C (p.Ile2397=)
c.7452A>C (p.Ile2484=)
c.7464A>C (p.Ile2488=)
c.5589A>C (p.Ile1863=)
6g.129465183A>GCA365621569LAMA2c.7194A>G (p.Ile2398Met)
c.7458A>G (p.Ile2486Met)
n.825A>G
n.533A>G
c.7191A>G (p.Ile2397Met)
c.7452A>G (p.Ile2484Met)
c.7464A>G (p.Ile2488Met)
c.5589A>G (p.Ile1863Met)
gnomAD v4
6g.129465183A>TCA451926423LAMA2c.7194A>T (p.Ile2398=)
c.7458A>T (p.Ile2486=)
n.825A>T
n.533A>T
c.7191A>T (p.Ile2397=)
c.7452A>T (p.Ile2484=)
c.7464A>T (p.Ile2488=)
c.5589A>T (p.Ile1863=)
6g.129465184A>CCA365621582LAMA2c.7195A>C (p.Lys2399Gln)
c.7459A>C (p.Lys2487Gln)
n.826A>C
n.534A>C
c.7192A>C (p.Lys2398Gln)
c.7453A>C (p.Lys2485Gln)
c.7465A>C (p.Lys2489Gln)
c.5590A>C (p.Lys1864Gln)
6g.129465184A>GCA365621587LAMA2c.7195A>G (p.Lys2399Glu)
c.7459A>G (p.Lys2487Glu)
n.826A>G
n.534A>G
c.7192A>G (p.Lys2398Glu)
c.7453A>G (p.Lys2485Glu)
c.7465A>G (p.Lys2489Glu)
c.5590A>G (p.Lys1864Glu)
6g.129465184A>TCA365621590LAMA2c.7195A>T (p.Lys2399Ter)
c.7459A>T (p.Lys2487Ter)
n.826A>T
n.534A>T
c.7192A>T (p.Lys2398Ter)
c.7453A>T (p.Lys2485Ter)
c.7465A>T (p.Lys2489Ter)
c.5590A>T (p.Lys1864Ter)
6g.129465185A=CA1663192613LAMA2c.7196A= (p.Lys2399=)
c.7460A= (p.Lys2487=)
n.827A=
n.535A=
c.7193A= (p.Lys2398=)
c.7454A= (p.Lys2485=)
c.7466A= (p.Lys2489=)
c.5591A= (p.Lys1864=)
6g.129465185A>CCA365621596LAMA2c.7196A>C (p.Lys2399Thr)
c.7460A>C (p.Lys2487Thr)
n.827A>C
n.535A>C
c.7193A>C (p.Lys2398Thr)
c.7454A>C (p.Lys2485Thr)
c.7466A>C (p.Lys2489Thr)
c.5591A>C (p.Lys1864Thr)
6g.129465185A>GCA365621598LAMA2c.7196A>G (p.Lys2399Arg)
c.7460A>G (p.Lys2487Arg)
n.827A>G
n.535A>G
c.7193A>G (p.Lys2398Arg)
c.7454A>G (p.Lys2485Arg)
c.7466A>G (p.Lys2489Arg)
c.5591A>G (p.Lys1864Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129465185A>TCA365621599LAMA2c.7196A>T (p.Lys2399Ile)
c.7460A>T (p.Lys2487Ile)
n.827A>T
n.535A>T
c.7193A>T (p.Lys2398Ile)
c.7454A>T (p.Lys2485Ile)
c.7466A>T (p.Lys2489Ile)
c.5591A>T (p.Lys1864Ile)
6g.129465186A=CA1663192615LAMA2c.7197A= (p.Lys2399=)
c.7461A= (p.Lys2487=)
n.828A=
n.536A=
c.7194A= (p.Lys2398=)
c.7455A= (p.Lys2485=)
c.7467A= (p.Lys2489=)
c.5592A= (p.Lys1864=)
6g.129465186A>CCA3994482LAMA2c.7197A>C (p.Lys2399Asn)
c.7461A>C (p.Lys2487Asn)
n.828A>C
n.536A>C
c.7194A>C (p.Lys2398Asn)
c.7455A>C (p.Lys2485Asn)
c.7467A>C (p.Lys2489Asn)
c.5592A>C (p.Lys1864Asn)
dbSNP ExAC gnomAD v2
6g.129465186A>GCA451926427LAMA2c.7197A>G (p.Lys2399=)
c.7461A>G (p.Lys2487=)
n.828A>G
n.536A>G
c.7194A>G (p.Lys2398=)
c.7455A>G (p.Lys2485=)
c.7467A>G (p.Lys2489=)
c.5592A>G (p.Lys1864=)
6g.129465186A>TCA365621607LAMA2c.7197A>T (p.Lys2399Asn)
c.7461A>T (p.Lys2487Asn)
n.828A>T
n.536A>T
c.7194A>T (p.Lys2398Asn)
c.7455A>T (p.Lys2485Asn)
c.7467A>T (p.Lys2489Asn)
c.5592A>T (p.Lys1864Asn)
gnomAD v4
6g.129465187G>ACA146892066LAMA2c.7198G>A (p.Val2400Ile)
c.7462G>A (p.Val2488Ile)
n.829G>A
n.537G>A
c.7195G>A (p.Val2399Ile)
c.7456G>A (p.Val2486Ile)
c.7468G>A (p.Val2490Ile)
c.5593G>A (p.Val1865Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129465187G>CCA365621610LAMA2c.7198G>C (p.Val2400Leu)
c.7462G>C (p.Val2488Leu)
n.829G>C
n.537G>C
c.7195G>C (p.Val2399Leu)
c.7456G>C (p.Val2486Leu)
c.7468G>C (p.Val2490Leu)
c.5593G>C (p.Val1865Leu)
6g.129465187G=CA1663192616LAMA2c.7198G= (p.Val2400=)
c.7462G= (p.Val2488=)
n.829G=
n.537G=
c.7195G= (p.Val2399=)
c.7456G= (p.Val2486=)
c.7468G= (p.Val2490=)
c.5593G= (p.Val1865=)
6g.129465187G>TCA365621614LAMA2c.7198G>T (p.Val2400Phe)
c.7462G>T (p.Val2488Phe)
n.829G>T
n.537G>T
c.7195G>T (p.Val2399Phe)
c.7456G>T (p.Val2486Phe)
c.7468G>T (p.Val2490Phe)
c.5593G>T (p.Val1865Phe)
6g.129465188T>ACA365621618LAMA2c.7199T>A (p.Val2400Asp)
c.7463T>A (p.Val2488Asp)
n.830T>A
n.538T>A
c.7196T>A (p.Val2399Asp)
c.7457T>A (p.Val2486Asp)
c.7469T>A (p.Val2490Asp)
c.5594T>A (p.Val1865Asp)
6g.129465188T>CCA365621620LAMA2c.7199T>C (p.Val2400Ala)
c.7463T>C (p.Val2488Ala)
n.830T>C
n.538T>C
c.7196T>C (p.Val2399Ala)
c.7457T>C (p.Val2486Ala)
c.7469T>C (p.Val2490Ala)
c.5594T>C (p.Val1865Ala)
dbSNP gnomAD v3 gnomAD v4
6g.129465188T>GCA365621616LAMA2c.7199T>G (p.Val2400Gly)
c.7463T>G (p.Val2488Gly)
n.830T>G
n.538T>G
c.7196T>G (p.Val2399Gly)
c.7457T>G (p.Val2486Gly)
c.7469T>G (p.Val2490Gly)
c.5594T>G (p.Val1865Gly)
6g.129465188T=CA1663192618LAMA2c.7199T= (p.Val2400=)
c.7463T= (p.Val2488=)
n.830T=
n.538T=
c.7196T= (p.Val2399=)
c.7457T= (p.Val2486=)
c.7469T= (p.Val2490=)
c.5594T= (p.Val1865=)
6g.129465189C>ACA451926430LAMA2c.7200C>A (p.Val2400=)
c.7464C>A (p.Val2488=)
n.831C>A
n.539C>A
c.7197C>A (p.Val2399=)
c.7458C>A (p.Val2486=)
c.7470C>A (p.Val2490=)
c.5595C>A (p.Val1865=)
gnomAD v4
6g.129465189C>GCA451926433LAMA2c.7200C>G (p.Val2400=)
c.7464C>G (p.Val2488=)
n.831C>G
n.539C>G
c.7197C>G (p.Val2399=)
c.7458C>G (p.Val2486=)
c.7470C>G (p.Val2490=)
c.5595C>G (p.Val1865=)
6g.129465189C>TCA451926432LAMA2c.7200C>T (p.Val2400=)
c.7464C>T (p.Val2488=)
n.831C>T
n.539C>T
c.7197C>T (p.Val2399=)
c.7458C>T (p.Val2486=)
c.7470C>T (p.Val2490=)
c.5595C>T (p.Val1865=)
dbSNP
6g.129465190A>CCA365621624LAMA2c.7201A>C (p.Ser2401Arg)
c.7465A>C (p.Ser2489Arg)
n.832A>C
n.540A>C
c.7198A>C (p.Ser2400Arg)
c.7459A>C (p.Ser2487Arg)
c.7471A>C (p.Ser2491Arg)
c.5596A>C (p.Ser1866Arg)
6g.129465190A>GCA365621626LAMA2c.7201A>G (p.Ser2401Gly)
c.7465A>G (p.Ser2489Gly)
n.832A>G
n.540A>G
c.7198A>G (p.Ser2400Gly)
c.7459A>G (p.Ser2487Gly)
c.7471A>G (p.Ser2491Gly)
c.5596A>G (p.Ser1866Gly)
6g.129465190A>TCA365621628LAMA2c.7201A>T (p.Ser2401Cys)
c.7465A>T (p.Ser2489Cys)
n.832A>T
n.540A>T
c.7198A>T (p.Ser2400Cys)
c.7459A>T (p.Ser2487Cys)
c.7471A>T (p.Ser2491Cys)
c.5596A>T (p.Ser1866Cys)
6g.129465191G>ACA365621645LAMA2c.7202G>A (p.Ser2401Asn)
c.7466G>A (p.Ser2489Asn)
n.833G>A
n.541G>A
c.7199G>A (p.Ser2400Asn)
c.7460G>A (p.Ser2487Asn)
c.7472G>A (p.Ser2491Asn)
c.5597G>A (p.Ser1866Asn)
6g.129465191G>CCA365621649LAMA2c.7202G>C (p.Ser2401Thr)
c.7466G>C (p.Ser2489Thr)
n.833G>C
n.541G>C
c.7199G>C (p.Ser2400Thr)
c.7460G>C (p.Ser2487Thr)
c.7472G>C (p.Ser2491Thr)
c.5597G>C (p.Ser1866Thr)
6g.129465191G>TCA365621653LAMA2c.7202G>T (p.Ser2401Ile)
c.7466G>T (p.Ser2489Ile)
n.833G>T
n.541G>T
c.7199G>T (p.Ser2400Ile)
c.7460G>T (p.Ser2487Ile)
c.7472G>T (p.Ser2491Ile)
c.5597G>T (p.Ser1866Ile)
6g.129465192T>ACA365621659LAMA2c.7203T>A (p.Ser2401Arg)
c.7467T>A (p.Ser2489Arg)
n.834T>A
n.542T>A
c.7200T>A (p.Ser2400Arg)
c.7461T>A (p.Ser2487Arg)
c.7473T>A (p.Ser2491Arg)
c.5598T>A (p.Ser1866Arg)
6g.129465192T>CCA451926437LAMA2c.7203T>C (p.Ser2401=)
c.7467T>C (p.Ser2489=)
n.834T>C
n.542T>C
c.7200T>C (p.Ser2400=)
c.7461T>C (p.Ser2487=)
c.7473T>C (p.Ser2491=)
c.5598T>C (p.Ser1866=)
6g.129465192T>GCA365621657LAMA2c.7203T>G (p.Ser2401Arg)
c.7467T>G (p.Ser2489Arg)
n.834T>G
n.542T>G
c.7200T>G (p.Ser2400Arg)
c.7461T>G (p.Ser2487Arg)
c.7473T>G (p.Ser2491Arg)
c.5598T>G (p.Ser1866Arg)
6g.129465193T>ACA365621663LAMA2c.7204T>A (p.Tyr2402Asn)
c.7468T>A (p.Tyr2490Asn)
n.835T>A
n.543T>A
c.7201T>A (p.Tyr2401Asn)
c.7462T>A (p.Tyr2488Asn)
c.7474T>A (p.Tyr2492Asn)
c.5599T>A (p.Tyr1867Asn)
6g.129465193T>CCA365621664LAMA2c.7204T>C (p.Tyr2402His)
c.7468T>C (p.Tyr2490His)
n.835T>C
n.543T>C
c.7201T>C (p.Tyr2401His)
c.7462T>C (p.Tyr2488His)
c.7474T>C (p.Tyr2492His)
c.5599T>C (p.Tyr1867His)
6g.129465193T>GCA365621668LAMA2c.7204T>G (p.Tyr2402Asp)
c.7468T>G (p.Tyr2490Asp)
n.835T>G
n.543T>G
c.7201T>G (p.Tyr2401Asp)
c.7462T>G (p.Tyr2488Asp)
c.7474T>G (p.Tyr2492Asp)
c.5599T>G (p.Tyr1867Asp)
6g.129465194A>CCA365621676LAMA2c.7205A>C (p.Tyr2402Ser)
c.7469A>C (p.Tyr2490Ser)
n.836A>C
n.544A>C
c.7202A>C (p.Tyr2401Ser)
c.7463A>C (p.Tyr2488Ser)
c.7475A>C (p.Tyr2492Ser)
c.5600A>C (p.Tyr1867Ser)
6g.129465194A>GCA365621681LAMA2c.7205A>G (p.Tyr2402Cys)
c.7469A>G (p.Tyr2490Cys)
n.836A>G
n.544A>G
c.7202A>G (p.Tyr2401Cys)
c.7463A>G (p.Tyr2488Cys)
c.7475A>G (p.Tyr2492Cys)
c.5600A>G (p.Tyr1867Cys)
6g.129465194A>TCA365621686LAMA2c.7205A>T (p.Tyr2402Phe)
c.7469A>T (p.Tyr2490Phe)
n.836A>T
n.544A>T
c.7202A>T (p.Tyr2401Phe)
c.7463A>T (p.Tyr2488Phe)
c.7475A>T (p.Tyr2492Phe)
c.5600A>T (p.Tyr1867Phe)
6g.129465195C>ACA365621690LAMA2c.7206C>A (p.Tyr2402Ter)
c.7470C>A (p.Tyr2490Ter)
n.837C>A
n.545C>A
c.7203C>A (p.Tyr2401Ter)
c.7464C>A (p.Tyr2488Ter)
c.7476C>A (p.Tyr2492Ter)
c.5601C>A (p.Tyr1867Ter)
6g.129465195C=CA1663192621LAMA2c.7206C= (p.Tyr2402=)
c.7470C= (p.Tyr2490=)
n.837C=
n.545C=
c.7203C= (p.Tyr2401=)
c.7464C= (p.Tyr2488=)
c.7476C= (p.Tyr2492=)
c.5601C= (p.Tyr1867=)
6g.129465195C>GCA365621691LAMA2c.7206C>G (p.Tyr2402Ter)
c.7470C>G (p.Tyr2490Ter)
n.837C>G
n.545C>G
c.7203C>G (p.Tyr2401Ter)
c.7464C>G (p.Tyr2488Ter)
c.7476C>G (p.Tyr2492Ter)
c.5601C>G (p.Tyr1867Ter)
6g.129465195C>TCA3994483LAMA2c.7206C>T (p.Tyr2402=)
c.7470C>T (p.Tyr2490=)
n.837C>T
n.545C>T
c.7203C>T (p.Tyr2401=)
c.7464C>T (p.Tyr2488=)
c.7476C>T (p.Tyr2492=)
c.5601C>T (p.Tyr1867=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465196G>ACA3994484LAMA2c.7207G>A (p.Asp2403Asn)
c.7471G>A (p.Asp2491Asn)
n.838G>A
n.546G>A
c.7204G>A (p.Asp2402Asn)
c.7465G>A (p.Asp2489Asn)
c.7477G>A (p.Asp2493Asn)
c.5602G>A (p.Asp1868Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129465196G>CCA365621694LAMA2c.7207G>C (p.Asp2403His)
c.7471G>C (p.Asp2491His)
n.838G>C
n.546G>C
c.7204G>C (p.Asp2402His)
c.7465G>C (p.Asp2489His)
c.7477G>C (p.Asp2493His)
c.5602G>C (p.Asp1868His)
dbSNP gnomAD v2 gnomAD v4
6g.129465196G=CA1663192625LAMA2c.7207G= (p.Asp2403=)
c.7471G= (p.Asp2491=)
n.838G=
n.546G=
c.7204G= (p.Asp2402=)
c.7465G= (p.Asp2489=)
c.7477G= (p.Asp2493=)
c.5602G= (p.Asp1868=)
6g.129465196G>TCA365621697LAMA2c.7207G>T (p.Asp2403Tyr)
c.7471G>T (p.Asp2491Tyr)
n.838G>T
n.546G>T
c.7204G>T (p.Asp2402Tyr)
c.7465G>T (p.Asp2489Tyr)
c.7477G>T (p.Asp2493Tyr)
c.5602G>T (p.Asp1868Tyr)
6g.129465196_129465197dupCA658796829LAMA2c.7207_7208dup (p.Asp2403GlufsTer?)
c.7471_7472dup (p.Asp2491GlufsTer?)
n.838_839dup
n.546_547dup
c.7204_7205dup (p.Asp2402GlufsTer?)
c.7465_7466dup (p.Asp2489GlufsTer?)
c.7477_7478dup (p.Asp2493GlufsTer?)
c.5602_5603dup (p.Asp1868GlufsTer?)
ClinVar dbSNP
6g.129465197A>CCA365621702LAMA2c.7208A>C (p.Asp2403Ala)
c.7472A>C (p.Asp2491Ala)
n.839A>C
n.547A>C
c.7205A>C (p.Asp2402Ala)
c.7466A>C (p.Asp2489Ala)
c.7478A>C (p.Asp2493Ala)
c.5603A>C (p.Asp1868Ala)
6g.129465197A>GCA365621707LAMA2c.7208A>G (p.Asp2403Gly)
c.7472A>G (p.Asp2491Gly)
n.839A>G
n.547A>G
c.7205A>G (p.Asp2402Gly)
c.7466A>G (p.Asp2489Gly)
c.7478A>G (p.Asp2493Gly)
c.5603A>G (p.Asp1868Gly)
6g.129465197A>TCA365621710LAMA2c.7208A>T (p.Asp2403Val)
c.7472A>T (p.Asp2491Val)
n.839A>T
n.547A>T
c.7205A>T (p.Asp2402Val)
c.7466A>T (p.Asp2489Val)
c.7478A>T (p.Asp2493Val)
c.5603A>T (p.Asp1868Val)
6g.129465198T>ACA365621716LAMA2c.7209T>A (p.Asp2403Glu)
c.7473T>A (p.Asp2491Glu)
n.840T>A
n.548T>A
c.7206T>A (p.Asp2402Glu)
c.7467T>A (p.Asp2489Glu)
c.7479T>A (p.Asp2493Glu)
c.5604T>A (p.Asp1868Glu)
6g.129465198T>CCA3994485LAMA2c.7209T>C (p.Asp2403=)
c.7473T>C (p.Asp2491=)
n.840T>C
n.548T>C
c.7206T>C (p.Asp2402=)
c.7467T>C (p.Asp2489=)
c.7479T>C (p.Asp2493=)
c.5604T>C (p.Asp1868=)
ClinVar dbSNP ExAC
6g.129465198T>GCA365621720LAMA2c.7209T>G (p.Asp2403Glu)
c.7473T>G (p.Asp2491Glu)
n.840T>G
n.548T>G
c.7206T>G (p.Asp2402Glu)
c.7467T>G (p.Asp2489Glu)
c.7479T>G (p.Asp2493Glu)
c.5604T>G (p.Asp1868Glu)
6g.129465198T=CA1663192629LAMA2c.7209T= (p.Asp2403=)
c.7473T= (p.Asp2491=)
n.840T=
n.548T=
c.7206T= (p.Asp2402=)
c.7467T= (p.Asp2489=)
c.7479T= (p.Asp2493=)
c.5604T= (p.Asp1868=)
6g.129465199C>ACA365621725LAMA2c.7210C>A (p.Leu2404Met)
c.7474C>A (p.Leu2492Met)
n.841C>A
n.549C>A
c.7207C>A (p.Leu2403Met)
c.7468C>A (p.Leu2490Met)
c.7480C>A (p.Leu2494Met)
c.5605C>A (p.Leu1869Met)
gnomAD v4
6g.129465199C=CA1663192631LAMA2c.7210C= (p.Leu2404=)
c.7474C= (p.Leu2492=)
n.841C=
n.549C=
c.7207C= (p.Leu2403=)
c.7468C= (p.Leu2490=)
c.7480C= (p.Leu2494=)
c.5605C= (p.Leu1869=)
6g.129465199C>GCA3994486LAMA2c.7210C>G (p.Leu2404Val)
c.7474C>G (p.Leu2492Val)
n.841C>G
n.549C>G
c.7207C>G (p.Leu2403Val)
c.7468C>G (p.Leu2490Val)
c.7480C>G (p.Leu2494Val)
c.5605C>G (p.Leu1869Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465199C>TCA451926442LAMA2c.7210C>T (p.Leu2404=)
c.7474C>T (p.Leu2492=)
n.841C>T
n.549C>T
c.7207C>T (p.Leu2403=)
c.7468C>T (p.Leu2490=)
c.7480C>T (p.Leu2494=)
c.5605C>T (p.Leu1869=)
6g.129465200T>ACA365621743LAMA2c.7211T>A (p.Leu2404Gln)
c.7475T>A (p.Leu2492Gln)
n.842T>A
n.550T>A
c.7208T>A (p.Leu2403Gln)
c.7469T>A (p.Leu2490Gln)
c.7481T>A (p.Leu2494Gln)
c.5606T>A (p.Leu1869Gln)
6g.129465200T>CCA365621741LAMA2c.7211T>C (p.Leu2404Pro)
c.7475T>C (p.Leu2492Pro)
n.842T>C
n.550T>C
c.7208T>C (p.Leu2403Pro)
c.7469T>C (p.Leu2490Pro)
c.7481T>C (p.Leu2494Pro)
c.5606T>C (p.Leu1869Pro)
dbSNP gnomAD v2 gnomAD v4
6g.129465200T>GCA365621733LAMA2c.7211T>G (p.Leu2404Arg)
c.7475T>G (p.Leu2492Arg)
n.842T>G
n.550T>G
c.7208T>G (p.Leu2403Arg)
c.7469T>G (p.Leu2490Arg)
c.7481T>G (p.Leu2494Arg)
c.5606T>G (p.Leu1869Arg)
gnomAD v4
6g.129465200T=CA1663192632LAMA2c.7211T= (p.Leu2404=)
c.7475T= (p.Leu2492=)
n.842T=
n.550T=
c.7208T= (p.Leu2403=)
c.7469T= (p.Leu2490=)
c.7481T= (p.Leu2494=)
c.5606T= (p.Leu1869=)
6g.129465201G>ACA451926443LAMA2c.7212G>A (p.Leu2404=)
c.7476G>A (p.Leu2492=)
n.843G>A
n.551G>A
c.7209G>A (p.Leu2403=)
c.7470G>A (p.Leu2490=)
c.7482G>A (p.Leu2494=)
c.5607G>A (p.Leu1869=)
6g.129465201G>CCA451926445LAMA2c.7212G>C (p.Leu2404=)
c.7476G>C (p.Leu2492=)
n.843G>C
n.551G>C
c.7209G>C (p.Leu2403=)
c.7470G>C (p.Leu2490=)
c.7482G>C (p.Leu2494=)
c.5607G>C (p.Leu1869=)
6g.129465201G>TCA451926444LAMA2c.7212G>T (p.Leu2404=)
c.7476G>T (p.Leu2492=)
n.843G>T
n.551G>T
c.7209G>T (p.Leu2403=)
c.7470G>T (p.Leu2490=)
c.7482G>T (p.Leu2494=)
c.5607G>T (p.Leu1869=)
6g.129465202G>ACA365621744LAMA2c.7213G>A (p.Gly2405Ser)
c.7477G>A (p.Gly2493Ser)
n.844G>A
n.552G>A
c.7210G>A (p.Gly2404Ser)
c.7471G>A (p.Gly2491Ser)
c.7483G>A (p.Gly2495Ser)
c.5608G>A (p.Gly1870Ser)
6g.129465202G>CCA365621747LAMA2c.7213G>C (p.Gly2405Arg)
c.7477G>C (p.Gly2493Arg)
n.844G>C
n.552G>C
c.7210G>C (p.Gly2404Arg)
c.7471G>C (p.Gly2491Arg)
c.7483G>C (p.Gly2495Arg)
c.5608G>C (p.Gly1870Arg)
6g.129465202G>TCA365621751LAMA2c.7213G>T (p.Gly2405Cys)
c.7477G>T (p.Gly2493Cys)
n.844G>T
n.552G>T
c.7210G>T (p.Gly2404Cys)
c.7471G>T (p.Gly2491Cys)
c.7483G>T (p.Gly2495Cys)
c.5608G>T (p.Gly1870Cys)
6g.129465203G>ACA3994487LAMA2c.7214G>A (p.Gly2405Asp)
c.7478G>A (p.Gly2493Asp)
n.845G>A
n.553G>A
c.7211G>A (p.Gly2404Asp)
c.7472G>A (p.Gly2491Asp)
c.7484G>A (p.Gly2495Asp)
c.5609G>A (p.Gly1870Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465203G>CCA365621762LAMA2c.7214G>C (p.Gly2405Ala)
c.7478G>C (p.Gly2493Ala)
n.845G>C
n.553G>C
c.7211G>C (p.Gly2404Ala)
c.7472G>C (p.Gly2491Ala)
c.7484G>C (p.Gly2495Ala)
c.5609G>C (p.Gly1870Ala)
6g.129465203G=CA1663192634LAMA2c.7214G= (p.Gly2405=)
c.7478G= (p.Gly2493=)
n.845G=
n.553G=
c.7211G= (p.Gly2404=)
c.7472G= (p.Gly2491=)
c.7484G= (p.Gly2495=)
c.5609G= (p.Gly1870=)
6g.129465203G>TCA365621766LAMA2c.7214G>T (p.Gly2405Val)
c.7478G>T (p.Gly2493Val)
n.845G>T
n.553G>T
c.7211G>T (p.Gly2404Val)
c.7472G>T (p.Gly2491Val)
c.7484G>T (p.Gly2495Val)
c.5609G>T (p.Gly1870Val)
gnomAD v4
6g.129465204C>ACA451926448LAMA2c.7215C>A (p.Gly2405=)
c.7479C>A (p.Gly2493=)
n.846C>A
n.554C>A
c.7212C>A (p.Gly2404=)
c.7473C>A (p.Gly2491=)
c.7485C>A (p.Gly2495=)
c.5610C>A (p.Gly1870=)
6g.129465204C>GCA451926447LAMA2c.7215C>G (p.Gly2405=)
c.7479C>G (p.Gly2493=)
n.846C>G
n.554C>G
c.7212C>G (p.Gly2404=)
c.7473C>G (p.Gly2491=)
c.7485C>G (p.Gly2495=)
c.5610C>G (p.Gly1870=)
6g.129465204C>TCA451926446LAMA2c.7215C>T (p.Gly2405=)
c.7479C>T (p.Gly2493=)
n.846C>T
n.554C>T
c.7212C>T (p.Gly2404=)
c.7473C>T (p.Gly2491=)
c.7485C>T (p.Gly2495=)
c.5610C>T (p.Gly1870=)
6g.129465204_129465206delinsACA2580074991LAMA2c.7215_7217delinsA (p.Ser2406ArgfsTer12)
c.7479_7481delinsA (p.Ser2494ArgfsTer12)
n.846_848delinsA
n.554_556delinsA
c.7212_7214delinsA (p.Ser2405ArgfsTer12)
c.7473_7475delinsA (p.Ser2492ArgfsTer12)
c.7485_7487delinsA (p.Ser2496ArgfsTer12)
c.5610_5612delinsA (p.Ser1871ArgfsTer12)
ClinVar
6g.129465205T>ACA365621788LAMA2c.7216T>A (p.Ser2406Thr)
c.7480T>A (p.Ser2494Thr)
n.847T>A
n.555T>A
c.7213T>A (p.Ser2405Thr)
c.7474T>A (p.Ser2492Thr)
c.7486T>A (p.Ser2496Thr)
c.5611T>A (p.Ser1871Thr)
6g.129465205T>CCA365621784LAMA2c.7216T>C (p.Ser2406Pro)
c.7480T>C (p.Ser2494Pro)
n.847T>C
n.555T>C
c.7213T>C (p.Ser2405Pro)
c.7474T>C (p.Ser2492Pro)
c.7486T>C (p.Ser2496Pro)
c.5611T>C (p.Ser1871Pro)
ClinVar dbSNP
6g.129465205T>GCA365621782LAMA2c.7216T>G (p.Ser2406Ala)
c.7480T>G (p.Ser2494Ala)
n.847T>G
n.555T>G
c.7213T>G (p.Ser2405Ala)
c.7474T>G (p.Ser2492Ala)
c.7486T>G (p.Ser2496Ala)
c.5611T>G (p.Ser1871Ala)
6g.129465206C>ACA365621791LAMA2c.7217C>A (p.Ser2406Ter)
c.7481C>A (p.Ser2494Ter)
n.848C>A
n.556C>A
c.7214C>A (p.Ser2405Ter)
c.7475C>A (p.Ser2492Ter)
c.7487C>A (p.Ser2496Ter)
c.5612C>A (p.Ser1871Ter)
6g.129465206C>GCA365621793LAMA2c.7217C>G (p.Ser2406Ter)
c.7481C>G (p.Ser2494Ter)
n.848C>G
n.556C>G
c.7214C>G (p.Ser2405Ter)
c.7475C>G (p.Ser2492Ter)
c.7487C>G (p.Ser2496Ter)
c.5612C>G (p.Ser1871Ter)
6g.129465206C>TCA365621795LAMA2c.7217C>T (p.Ser2406Leu)
c.7481C>T (p.Ser2494Leu)
n.848C>T
n.556C>T
c.7214C>T (p.Ser2405Leu)
c.7475C>T (p.Ser2492Leu)
c.7487C>T (p.Ser2496Leu)
c.5612C>T (p.Ser1871Leu)
gnomAD v4
6g.129465207A>CCA451926449LAMA2c.7218A>C (p.Ser2406=)
c.7482A>C (p.Ser2494=)
n.849A>C
n.557A>C
c.7215A>C (p.Ser2405=)
c.7476A>C (p.Ser2492=)
c.7488A>C (p.Ser2496=)
c.5613A>C (p.Ser1871=)
gnomAD v4
6g.129465207A>GCA451926451LAMA2c.7218A>G (p.Ser2406=)
c.7482A>G (p.Ser2494=)
n.849A>G
n.557A>G
c.7215A>G (p.Ser2405=)
c.7476A>G (p.Ser2492=)
c.7488A>G (p.Ser2496=)
c.5613A>G (p.Ser1871=)
gnomAD v4
6g.129465207A>TCA451926450LAMA2c.7218A>T (p.Ser2406=)
c.7482A>T (p.Ser2494=)
n.849A>T
n.557A>T
c.7215A>T (p.Ser2405=)
c.7476A>T (p.Ser2492=)
c.7488A>T (p.Ser2496=)
c.5613A>T (p.Ser1871=)
6g.129465208G>ACA365621797LAMA2c.7219G>A (p.Gly2407Arg)
c.7483G>A (p.Gly2495Arg)
n.850G>A
c.7216G>A (p.Gly2406Arg)
c.7477G>A (p.Gly2493Arg)
c.7489G>A (p.Gly2497Arg)
c.5614G>A (p.Gly1872Arg)
dbSNP gnomAD v3 gnomAD v4
6g.129465208G>CCA365621801LAMA2c.7219G>C (p.Gly2407Arg)
c.7483G>C (p.Gly2495Arg)
n.850G>C
c.7216G>C (p.Gly2406Arg)
c.7477G>C (p.Gly2493Arg)
c.7489G>C (p.Gly2497Arg)
c.5614G>C (p.Gly1872Arg)
6g.129465208G=CA1663192636LAMA2c.7219G= (p.Gly2407=)
c.7483G= (p.Gly2495=)
n.850G=
c.7216G= (p.Gly2406=)
c.7477G= (p.Gly2493=)
c.7489G= (p.Gly2497=)
c.5614G= (p.Gly1872=)
6g.129465208G>TCA365621818LAMA2c.7219G>T (p.Gly2407Ter)
c.7483G>T (p.Gly2495Ter)
n.850G>T
c.7216G>T (p.Gly2406Ter)
c.7477G>T (p.Gly2493Ter)
c.7489G>T (p.Gly2497Ter)
c.5614G>T (p.Gly1872Ter)
6g.129465209G>ACA365621823LAMA2c.7220G>A (p.Gly2407Glu)
c.7484G>A (p.Gly2495Glu)
n.851G>A
c.7217G>A (p.Gly2406Glu)
c.7478G>A (p.Gly2493Glu)
c.7490G>A (p.Gly2497Glu)
c.5615G>A (p.Gly1872Glu)
6g.129465209G>CCA365621827LAMA2c.7220G>C (p.Gly2407Ala)
c.7484G>C (p.Gly2495Ala)
n.851G>C
c.7217G>C (p.Gly2406Ala)
c.7478G>C (p.Gly2493Ala)
c.7490G>C (p.Gly2497Ala)
c.5615G>C (p.Gly1872Ala)
6g.129465209G>TCA365621825LAMA2c.7220G>T (p.Gly2407Val)
c.7484G>T (p.Gly2495Val)
n.851G>T
c.7217G>T (p.Gly2406Val)
c.7478G>T (p.Gly2493Val)
c.7490G>T (p.Gly2497Val)
c.5615G>T (p.Gly1872Val)
6g.129465210A>CCA451926452LAMA2c.7221A>C (p.Gly2407=)
c.7485A>C (p.Gly2495=)
n.852A>C
c.7218A>C (p.Gly2406=)
c.7479A>C (p.Gly2493=)
c.7491A>C (p.Gly2497=)
c.5616A>C (p.Gly1872=)
6g.129465210A>GCA451926453LAMA2c.7221A>G (p.Gly2407=)
c.7485A>G (p.Gly2495=)
n.852A>G
c.7218A>G (p.Gly2406=)
c.7479A>G (p.Gly2493=)
c.7491A>G (p.Gly2497=)
c.5616A>G (p.Gly1872=)
6g.129465210A>TCA451926454LAMA2c.7221A>T (p.Gly2407=)
c.7485A>T (p.Gly2495=)
n.852A>T
c.7218A>T (p.Gly2406=)
c.7479A>T (p.Gly2493=)
c.7491A>T (p.Gly2497=)
c.5616A>T (p.Gly1872=)
6g.129465211A>CCA365621831LAMA2c.7222A>C (p.Met2408Leu)
c.7486A>C (p.Met2496Leu)
n.853A>C
c.7219A>C (p.Met2407Leu)
c.7480A>C (p.Met2494Leu)
c.7492A>C (p.Met2498Leu)
c.5617A>C (p.Met1873Leu)
6g.129465211A>GCA365621832LAMA2c.7222A>G (p.Met2408Val)
c.7486A>G (p.Met2496Val)
n.853A>G
c.7219A>G (p.Met2407Val)
c.7480A>G (p.Met2494Val)
c.7492A>G (p.Met2498Val)
c.5617A>G (p.Met1873Val)
6g.129465211A>TCA365621835LAMA2c.7222A>T (p.Met2408Leu)
c.7486A>T (p.Met2496Leu)
n.853A>T
c.7219A>T (p.Met2407Leu)
c.7480A>T (p.Met2494Leu)
c.7492A>T (p.Met2498Leu)
c.5617A>T (p.Met1873Leu)
6g.129465212T>ACA365621838LAMA2c.7223T>A (p.Met2408Lys)
c.7487T>A (p.Met2496Lys)
n.854T>A
c.7220T>A (p.Met2407Lys)
c.7481T>A (p.Met2494Lys)
c.7493T>A (p.Met2498Lys)
c.5618T>A (p.Met1873Lys)
6g.129465212T>CCA146892120LAMA2c.7223T>C (p.Met2408Thr)
c.7487T>C (p.Met2496Thr)
n.854T>C
c.7220T>C (p.Met2407Thr)
c.7481T>C (p.Met2494Thr)
c.7493T>C (p.Met2498Thr)
c.5618T>C (p.Met1873Thr)
dbSNP
6g.129465212T>GCA365621842LAMA2c.7223T>G (p.Met2408Arg)
c.7487T>G (p.Met2496Arg)
n.854T>G
c.7220T>G (p.Met2407Arg)
c.7481T>G (p.Met2494Arg)
c.7493T>G (p.Met2498Arg)
c.5618T>G (p.Met1873Arg)
6g.129465212T=CA1663192638LAMA2c.7223T= (p.Met2408=)
c.7487T= (p.Met2496=)
n.854T=
c.7220T= (p.Met2407=)
c.7481T= (p.Met2494=)
c.7493T= (p.Met2498=)
c.5618T= (p.Met1873=)
6g.129465213G>ACA365621844LAMA2c.7224G>A (p.Met2408Ile)
c.7488G>A (p.Met2496Ile)
n.855G>A
c.7221G>A (p.Met2407Ile)
c.7482G>A (p.Met2494Ile)
c.7494G>A (p.Met2498Ile)
c.5619G>A (p.Met1873Ile)
6g.129465213G>CCA365621847LAMA2c.7224G>C (p.Met2408Ile)
c.7488G>C (p.Met2496Ile)
n.855G>C
c.7221G>C (p.Met2407Ile)
c.7482G>C (p.Met2494Ile)
c.7494G>C (p.Met2498Ile)
c.5619G>C (p.Met1873Ile)
6g.129465213G>TCA365621848LAMA2c.7224G>T (p.Met2408Ile)
c.7488G>T (p.Met2496Ile)
n.855G>T
c.7221G>T (p.Met2407Ile)
c.7482G>T (p.Met2494Ile)
c.7494G>T (p.Met2498Ile)
c.5619G>T (p.Met1873Ile)
6g.129465214G>ACA365621850LAMA2c.7225G>A (p.Ala2409Thr)
c.7489G>A (p.Ala2497Thr)
n.856G>A
c.7222G>A (p.Ala2408Thr)
c.7483G>A (p.Ala2495Thr)
c.7495G>A (p.Ala2499Thr)
c.5620G>A (p.Ala1874Thr)
6g.129465214G>CCA365621853LAMA2c.7225G>C (p.Ala2409Pro)
c.7489G>C (p.Ala2497Pro)
n.856G>C
c.7222G>C (p.Ala2408Pro)
c.7483G>C (p.Ala2495Pro)
c.7495G>C (p.Ala2499Pro)
c.5620G>C (p.Ala1874Pro)
6g.129465214G=CA1663192640LAMA2c.7225G= (p.Ala2409=)
c.7489G= (p.Ala2497=)
n.856G=
c.7222G= (p.Ala2408=)
c.7483G= (p.Ala2495=)
c.7495G= (p.Ala2499=)
c.5620G= (p.Ala1874=)
6g.129465214G>TCA365621857LAMA2c.7225G>T (p.Ala2409Ser)
c.7489G>T (p.Ala2497Ser)
n.856G>T
c.7222G>T (p.Ala2408Ser)
c.7483G>T (p.Ala2495Ser)
c.7495G>T (p.Ala2499Ser)
c.5620G>T (p.Ala1874Ser)
dbSNP
6g.129465215C>ACA365621864LAMA2c.7226C>A (p.Ala2409Asp)
c.7490C>A (p.Ala2497Asp)
n.857C>A
c.7223C>A (p.Ala2408Asp)
c.7484C>A (p.Ala2495Asp)
c.7496C>A (p.Ala2499Asp)
c.5621C>A (p.Ala1874Asp)
6g.129465215C=CA1663192641LAMA2c.7226C= (p.Ala2409=)
c.7490C= (p.Ala2497=)
n.857C=
c.7223C= (p.Ala2408=)
c.7484C= (p.Ala2495=)
c.7496C= (p.Ala2499=)
c.5621C= (p.Ala1874=)
6g.129465215C>GCA365621859LAMA2c.7226C>G (p.Ala2409Gly)
c.7490C>G (p.Ala2497Gly)
n.857C>G
c.7223C>G (p.Ala2408Gly)
c.7484C>G (p.Ala2495Gly)
c.7496C>G (p.Ala2499Gly)
c.5621C>G (p.Ala1874Gly)
gnomAD v4
6g.129465215C>TCA365621861LAMA2c.7226C>T (p.Ala2409Val)
c.7490C>T (p.Ala2497Val)
n.857C>T
c.7223C>T (p.Ala2408Val)
c.7484C>T (p.Ala2495Val)
c.7496C>T (p.Ala2499Val)
c.5621C>T (p.Ala1874Val)
dbSNP gnomAD v4
6g.129465216T>ACA451926455LAMA2c.7227T>A (p.Ala2409=)
c.7491T>A (p.Ala2497=)
n.858T>A
c.7224T>A (p.Ala2408=)
c.7485T>A (p.Ala2495=)
c.7497T>A (p.Ala2499=)
c.5622T>A (p.Ala1874=)
6g.129465216T>CCA451926456LAMA2c.7227T>C (p.Ala2409=)
c.7491T>C (p.Ala2497=)
n.858T>C
c.7224T>C (p.Ala2408=)
c.7485T>C (p.Ala2495=)
c.7497T>C (p.Ala2499=)
c.5622T>C (p.Ala1874=)
6g.129465216T>GCA451926457LAMA2c.7227T>G (p.Ala2409=)
c.7491T>G (p.Ala2497=)
n.858T>G
c.7224T>G (p.Ala2408=)
c.7485T>G (p.Ala2495=)
c.7497T>G (p.Ala2499=)
c.5622T>G (p.Ala1874=)
6g.129465217T>ACA365621868LAMA2c.7228T>A (p.Ser2410Thr)
c.7492T>A (p.Ser2498Thr)
n.859T>A
c.7225T>A (p.Ser2409Thr)
c.7486T>A (p.Ser2496Thr)
c.7498T>A (p.Ser2500Thr)
c.5623T>A (p.Ser1875Thr)
6g.129465217T>CCA365621875LAMA2c.7228T>C (p.Ser2410Pro)
c.7492T>C (p.Ser2498Pro)
n.859T>C
c.7225T>C (p.Ser2409Pro)
c.7486T>C (p.Ser2496Pro)
c.7498T>C (p.Ser2500Pro)
c.5623T>C (p.Ser1875Pro)
6g.129465217T>GCA365621878LAMA2c.7228T>G (p.Ser2410Ala)
c.7492T>G (p.Ser2498Ala)
n.859T>G
c.7225T>G (p.Ser2409Ala)
c.7486T>G (p.Ser2496Ala)
c.7498T>G (p.Ser2500Ala)
c.5623T>G (p.Ser1875Ala)
6g.129465218C>ACA365621881LAMA2c.7229C>A (p.Ser2410Tyr)
c.7493C>A (p.Ser2498Tyr)
n.860C>A
c.7226C>A (p.Ser2409Tyr)
c.7487C>A (p.Ser2496Tyr)
c.7499C>A (p.Ser2500Tyr)
c.5624C>A (p.Ser1875Tyr)
6g.129465218C>GCA365621882LAMA2c.7229C>G (p.Ser2410Cys)
c.7493C>G (p.Ser2498Cys)
n.860C>G
c.7226C>G (p.Ser2409Cys)
c.7487C>G (p.Ser2496Cys)
c.7499C>G (p.Ser2500Cys)
c.5624C>G (p.Ser1875Cys)
6g.129465218C>TCA365621885LAMA2c.7229C>T (p.Ser2410Phe)
c.7493C>T (p.Ser2498Phe)
n.860C>T
c.7226C>T (p.Ser2409Phe)
c.7487C>T (p.Ser2496Phe)
c.7499C>T (p.Ser2500Phe)
c.5624C>T (p.Ser1875Phe)
6g.129465219C>ACA451926458LAMA2c.7230C>A (p.Ser2410=)
c.7494C>A (p.Ser2498=)
n.861C>A
c.7227C>A (p.Ser2409=)
c.7488C>A (p.Ser2496=)
c.7500C>A (p.Ser2500=)
c.5625C>A (p.Ser1875=)
gnomAD v4
6g.129465219C=CA1663192643LAMA2c.7230C= (p.Ser2410=)
c.7494C= (p.Ser2498=)
n.861C=
c.7227C= (p.Ser2409=)
c.7488C= (p.Ser2496=)
c.7500C= (p.Ser2500=)
c.5625C= (p.Ser1875=)
6g.129465219C>GCA451926459LAMA2c.7230C>G (p.Ser2410=)
c.7494C>G (p.Ser2498=)
n.861C>G
c.7227C>G (p.Ser2409=)
c.7488C>G (p.Ser2496=)
c.7500C>G (p.Ser2500=)
c.5625C>G (p.Ser1875=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129465219C>TCA3994488LAMA2c.7230C>T (p.Ser2410=)
c.7494C>T (p.Ser2498=)
n.861C>T
c.7227C>T (p.Ser2409=)
c.7488C>T (p.Ser2496=)
c.7500C>T (p.Ser2500=)
c.5625C>T (p.Ser1875=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465219_129465220insTCA645547602LAMA2c.7230_7231insT (p.Val2411CysfsTer8)
c.7494_7495insT (p.Val2499CysfsTer8)
n.861_862insT
c.7227_7228insT (p.Val2410CysfsTer8)
c.7488_7489insT (p.Val2497CysfsTer8)
c.7500_7501insT (p.Val2501CysfsTer8)
c.5625_5626insT (p.Val1876CysfsTer8)
COSMIC
6g.129465220G>ACA3994489LAMA2c.7231G>A (p.Val2411Ile)
c.7495G>A (p.Val2499Ile)
n.862G>A
c.7228G>A (p.Val2410Ile)
c.7489G>A (p.Val2497Ile)
c.7501G>A (p.Val2501Ile)
c.5626G>A (p.Val1876Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465220G>CCA365621890LAMA2c.7231G>C (p.Val2411Leu)
c.7495G>C (p.Val2499Leu)
n.862G>C
c.7228G>C (p.Val2410Leu)
c.7489G>C (p.Val2497Leu)
c.7501G>C (p.Val2501Leu)
c.5626G>C (p.Val1876Leu)
6g.129465220G=CA1663192644LAMA2c.7231G= (p.Val2411=)
c.7495G= (p.Val2499=)
n.862G=
c.7228G= (p.Val2410=)
c.7489G= (p.Val2497=)
c.7501G= (p.Val2501=)
c.5626G= (p.Val1876=)
6g.129465220G>TCA365621889LAMA2c.7231G>T (p.Val2411Phe)
c.7495G>T (p.Val2499Phe)
n.862G>T
c.7228G>T (p.Val2410Phe)
c.7489G>T (p.Val2497Phe)
c.7501G>T (p.Val2501Phe)
c.5626G>T (p.Val1876Phe)
6g.129465221T>ACA365621900LAMA2c.7232T>A (p.Val2411Asp)
c.7496T>A (p.Val2499Asp)
n.863T>A
c.7229T>A (p.Val2410Asp)
c.7490T>A (p.Val2497Asp)
c.7502T>A (p.Val2501Asp)
c.5627T>A (p.Val1876Asp)
6g.129465221T>CCA365621903LAMA2c.7232T>C (p.Val2411Ala)
c.7496T>C (p.Val2499Ala)
n.863T>C
c.7229T>C (p.Val2410Ala)
c.7490T>C (p.Val2497Ala)
c.7502T>C (p.Val2501Ala)
c.5627T>C (p.Val1876Ala)
6g.129465221T>GCA365621905LAMA2c.7232T>G (p.Val2411Gly)
c.7496T>G (p.Val2499Gly)
n.863T>G
c.7229T>G (p.Val2410Gly)
c.7490T>G (p.Val2497Gly)
c.7502T>G (p.Val2501Gly)
c.5627T>G (p.Val1876Gly)
6g.129465222dupCA451926460LAMA2c.7233dup (p.Val2412CysfsTer7)
c.7497dup (p.Val2500CysfsTer7)
n.864dup
c.7230dup (p.Val2411CysfsTer7)
c.7491dup (p.Val2498CysfsTer7)
c.7503dup (p.Val2502CysfsTer7)
c.5628dup (p.Val1877CysfsTer7)
6g.129465222T>ACA451926462LAMA2c.7233T>A (p.Val2411=)
c.7497T>A (p.Val2499=)
n.864T>A
c.7230T>A (p.Val2410=)
c.7491T>A (p.Val2497=)
c.7503T>A (p.Val2501=)
c.5628T>A (p.Val1876=)
6g.129465222T>CCA3994490LAMA2c.7233T>C (p.Val2411=)
c.7497T>C (p.Val2499=)
n.864T>C
c.7230T>C (p.Val2410=)
c.7491T>C (p.Val2497=)
c.7503T>C (p.Val2501=)
c.5628T>C (p.Val1876=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.129465222T>GCA451926461LAMA2c.7233T>G (p.Val2411=)
c.7497T>G (p.Val2499=)
n.864T>G
c.7230T>G (p.Val2410=)
c.7491T>G (p.Val2497=)
c.7503T>G (p.Val2501=)
c.5628T>G (p.Val1876=)
6g.129465222T=CA1663192646LAMA2c.7233T= (p.Val2411=)
c.7497T= (p.Val2499=)
n.864T=
c.7230T= (p.Val2410=)
c.7491T= (p.Val2497=)
c.7503T= (p.Val2501=)
c.5628T= (p.Val1876=)
6g.129465223G>ACA146892144LAMA2c.7234G>A (p.Val2412Ile)
c.7498G>A (p.Val2500Ile)
n.865G>A
c.7231G>A (p.Val2411Ile)
c.7492G>A (p.Val2498Ile)
c.7504G>A (p.Val2502Ile)
c.5629G>A (p.Val1877Ile)
dbSNP
6g.129465223G>CCA365621911LAMA2c.7234G>C (p.Val2412Leu)
c.7498G>C (p.Val2500Leu)
n.865G>C
c.7231G>C (p.Val2411Leu)
c.7492G>C (p.Val2498Leu)
c.7504G>C (p.Val2502Leu)
c.5629G>C (p.Val1877Leu)
6g.129465223G=CA1663192648LAMA2c.7234G= (p.Val2412=)
c.7498G= (p.Val2500=)
n.865G=
c.7231G= (p.Val2411=)
c.7492G= (p.Val2498=)
c.7504G= (p.Val2502=)
c.5629G= (p.Val1877=)
6g.129465223G>TCA365621913LAMA2c.7234G>T (p.Val2412Phe)
c.7498G>T (p.Val2500Phe)
n.865G>T
c.7231G>T (p.Val2411Phe)
c.7492G>T (p.Val2498Phe)
c.7504G>T (p.Val2502Phe)
c.5629G>T (p.Val1877Phe)
6g.129465224T>ACA365621917LAMA2c.7235T>A (p.Val2412Asp)
c.7499T>A (p.Val2500Asp)
n.866T>A
c.7232T>A (p.Val2411Asp)
c.7493T>A (p.Val2498Asp)
c.7505T>A (p.Val2502Asp)
c.5630T>A (p.Val1877Asp)
6g.129465224T>CCA365621920LAMA2c.7235T>C (p.Val2412Ala)
c.7499T>C (p.Val2500Ala)
n.866T>C
c.7232T>C (p.Val2411Ala)
c.7493T>C (p.Val2498Ala)
c.7505T>C (p.Val2502Ala)
c.5630T>C (p.Val1877Ala)
6g.129465224T>GCA365621922LAMA2c.7235T>G (p.Val2412Gly)
c.7499T>G (p.Val2500Gly)
n.866T>G
c.7232T>G (p.Val2411Gly)
c.7493T>G (p.Val2498Gly)
c.7505T>G (p.Val2502Gly)
c.5630T>G (p.Val1877Gly)
6g.129465225C>ACA451926466LAMA2c.7236C>A (p.Val2412=)
c.7500C>A (p.Val2500=)
n.867C>A
c.7233C>A (p.Val2411=)
c.7494C>A (p.Val2498=)
c.7506C>A (p.Val2502=)
c.5631C>A (p.Val1877=)
6g.129465225C=CA1663192650LAMA2c.7236C= (p.Val2412=)
c.7500C= (p.Val2500=)
n.867C=
c.7233C= (p.Val2411=)
c.7494C= (p.Val2498=)
c.7506C= (p.Val2502=)
c.5631C= (p.Val1877=)
6g.129465225C>GCA451926467LAMA2c.7236C>G (p.Val2412=)
c.7500C>G (p.Val2500=)
n.867C>G
c.7233C>G (p.Val2411=)
c.7494C>G (p.Val2498=)
c.7506C>G (p.Val2502=)
c.5631C>G (p.Val1877=)
6g.129465225C>TCA451926468LAMA2c.7236C>T (p.Val2412=)
c.7500C>T (p.Val2500=)
n.867C>T
c.7233C>T (p.Val2411=)
c.7494C>T (p.Val2498=)
c.7506C>T (p.Val2502=)
c.5631C>T (p.Val1877=)
dbSNP gnomAD v2
6g.129465226A>CCA365621925LAMA2c.7237A>C (p.Ser2413Arg)
c.7501A>C (p.Ser2501Arg)
n.868A>C
c.7234A>C (p.Ser2412Arg)
c.7495A>C (p.Ser2499Arg)
c.7507A>C (p.Ser2503Arg)
c.5632A>C (p.Ser1878Arg)
6g.129465226A>GCA365621927LAMA2c.7237A>G (p.Ser2413Gly)
c.7501A>G (p.Ser2501Gly)
n.868A>G
c.7234A>G (p.Ser2412Gly)
c.7495A>G (p.Ser2499Gly)
c.7507A>G (p.Ser2503Gly)
c.5632A>G (p.Ser1878Gly)
6g.129465226A>TCA365621928LAMA2c.7237A>T (p.Ser2413Cys)
c.7501A>T (p.Ser2501Cys)
n.868A>T
c.7234A>T (p.Ser2412Cys)
c.7495A>T (p.Ser2499Cys)
c.7507A>T (p.Ser2503Cys)
c.5632A>T (p.Ser1878Cys)
6g.129465227G>ACA365621929LAMA2c.7238G>A (p.Ser2413Asn)
c.7502G>A (p.Ser2501Asn)
n.869G>A
c.7235G>A (p.Ser2412Asn)
c.7496G>A (p.Ser2499Asn)
c.7508G>A (p.Ser2503Asn)
c.5633G>A (p.Ser1878Asn)
gnomAD v4
6g.129465227G>CCA365621931LAMA2c.7238G>C (p.Ser2413Thr)
c.7502G>C (p.Ser2501Thr)
n.869G>C
c.7235G>C (p.Ser2412Thr)
c.7496G>C (p.Ser2499Thr)
c.7508G>C (p.Ser2503Thr)
c.5633G>C (p.Ser1878Thr)
6g.129465227G>TCA365621935LAMA2c.7238G>T (p.Ser2413Ile)
c.7502G>T (p.Ser2501Ile)
n.869G>T
c.7235G>T (p.Ser2412Ile)
c.7496G>T (p.Ser2499Ile)
c.7508G>T (p.Ser2503Ile)
c.5633G>T (p.Ser1878Ile)
6g.129465228C>ACA365621937LAMA2c.7239C>A (p.Ser2413Arg)
c.7503C>A (p.Ser2501Arg)
n.870C>A
c.7236C>A (p.Ser2412Arg)
c.7497C>A (p.Ser2499Arg)
c.7509C>A (p.Ser2503Arg)
c.5634C>A (p.Ser1878Arg)
6g.129465228C=CA1663192652LAMA2c.7239C= (p.Ser2413=)
c.7503C= (p.Ser2501=)
n.870C=
c.7236C= (p.Ser2412=)
c.7497C= (p.Ser2499=)
c.7509C= (p.Ser2503=)
c.5634C= (p.Ser1878=)
6g.129465228C>GCA365621939LAMA2c.7239C>G (p.Ser2413Arg)
c.7503C>G (p.Ser2501Arg)
n.870C>G
c.7236C>G (p.Ser2412Arg)
c.7497C>G (p.Ser2499Arg)
c.7509C>G (p.Ser2503Arg)
c.5634C>G (p.Ser1878Arg)
6g.129465228C>TCA146892163LAMA2c.7239C>T (p.Ser2413=)
c.7503C>T (p.Ser2501=)
n.870C>T
c.7236C>T (p.Ser2412=)
c.7497C>T (p.Ser2499=)
c.7509C>T (p.Ser2503=)
c.5634C>T (p.Ser1878=)
dbSNP gnomAD v3 gnomAD v4
6g.129465229A>CCA365621947LAMA2c.7240A>C (p.Asn2414His)
c.7504A>C (p.Asn2502His)
n.871A>C
c.7237A>C (p.Asn2413His)
c.7498A>C (p.Asn2500His)
c.7510A>C (p.Asn2504His)
c.5635A>C (p.Asn1879His)
gnomAD v4
6g.129465229A>GCA365621942LAMA2c.7240A>G (p.Asn2414Asp)
c.7504A>G (p.Asn2502Asp)
n.871A>G
c.7237A>G (p.Asn2413Asp)
c.7498A>G (p.Asn2500Asp)
c.7510A>G (p.Asn2504Asp)
c.5635A>G (p.Asn1879Asp)
6g.129465229A>TCA365621945LAMA2c.7240A>T (p.Asn2414Tyr)
c.7504A>T (p.Asn2502Tyr)
n.871A>T
c.7237A>T (p.Asn2413Tyr)
c.7498A>T (p.Asn2500Tyr)
c.7510A>T (p.Asn2504Tyr)
c.5635A>T (p.Asn1879Tyr)
6g.129465230A=CA1663192654LAMA2c.7241A= (p.Asn2414=)
c.7505A= (p.Asn2502=)
n.872A=
c.7238A= (p.Asn2413=)
c.7499A= (p.Asn2500=)
c.7511A= (p.Asn2504=)
c.5636A= (p.Asn1879=)
6g.129465230A>CCA365621948LAMA2c.7241A>C (p.Asn2414Thr)
c.7505A>C (p.Asn2502Thr)
n.872A>C
c.7238A>C (p.Asn2413Thr)
c.7499A>C (p.Asn2500Thr)
c.7511A>C (p.Asn2504Thr)
c.5636A>C (p.Asn1879Thr)
6g.129465230A>GCA146892168LAMA2c.7241A>G (p.Asn2414Ser)
c.7505A>G (p.Asn2502Ser)
n.872A>G
c.7238A>G (p.Asn2413Ser)
c.7499A>G (p.Asn2500Ser)
c.7511A>G (p.Asn2504Ser)
c.5636A>G (p.Asn1879Ser)
dbSNP
6g.129465230A>TCA365621952LAMA2c.7241A>T (p.Asn2414Ile)
c.7505A>T (p.Asn2502Ile)
n.872A>T
c.7238A>T (p.Asn2413Ile)
c.7499A>T (p.Asn2500Ile)
c.7511A>T (p.Asn2504Ile)
c.5636A>T (p.Asn1879Ile)
6g.129465231T>ACA365621955LAMA2c.7242T>A (p.Asn2414Lys)
c.7506T>A (p.Asn2502Lys)
n.873T>A
c.7239T>A (p.Asn2413Lys)
c.7500T>A (p.Asn2500Lys)
c.7512T>A (p.Asn2504Lys)
c.5637T>A (p.Asn1879Lys)
6g.129465231T>CCA451926469LAMA2c.7242T>C (p.Asn2414=)
c.7506T>C (p.Asn2502=)
n.873T>C
c.7239T>C (p.Asn2413=)
c.7500T>C (p.Asn2500=)
c.7512T>C (p.Asn2504=)
c.5637T>C (p.Asn1879=)
ClinVar dbSNP gnomAD v4
6g.129465231T>GCA365621957LAMA2c.7242T>G (p.Asn2414Lys)
c.7506T>G (p.Asn2502Lys)
n.873T>G
c.7239T>G (p.Asn2413Lys)
c.7500T>G (p.Asn2500Lys)
c.7512T>G (p.Asn2504Lys)
c.5637T>G (p.Asn1879Lys)
6g.129465231T=CA1663192656LAMA2c.7242T= (p.Asn2414=)
c.7506T= (p.Asn2502=)
n.873T=
c.7239T= (p.Asn2413=)
c.7500T= (p.Asn2500=)
c.7512T= (p.Asn2504=)
c.5637T= (p.Asn1879=)
6g.129465232C>ACA365621962LAMA2c.7243C>A (p.Gln2415Lys)
c.7507C>A (p.Gln2503Lys)
n.874C>A
c.7240C>A (p.Gln2414Lys)
c.7501C>A (p.Gln2501Lys)
c.7513C>A (p.Gln2505Lys)
c.5638C>A (p.Gln1880Lys)
gnomAD v4
6g.129465232C>GCA365621960LAMA2c.7243C>G (p.Gln2415Glu)
c.7507C>G (p.Gln2503Glu)
n.874C>G
c.7240C>G (p.Gln2414Glu)
c.7501C>G (p.Gln2501Glu)
c.7513C>G (p.Gln2505Glu)
c.5638C>G (p.Gln1880Glu)
6g.129465232C>TCA365621959LAMA2c.7243C>T (p.Gln2415Ter)
c.7507C>T (p.Gln2503Ter)
n.874C>T
c.7240C>T (p.Gln2414Ter)
c.7501C>T (p.Gln2501Ter)
c.7513C>T (p.Gln2505Ter)
c.5638C>T (p.Gln1880Ter)
6g.129465233A=CA1663192658LAMA2c.7244A= (p.Gln2415=)
c.7508A= (p.Gln2503=)
n.875A=
c.7241A= (p.Gln2414=)
c.7502A= (p.Gln2501=)
c.7514A= (p.Gln2505=)
c.5639A= (p.Gln1880=)
6g.129465233A>CCA365621964LAMA2c.7244A>C (p.Gln2415Pro)
c.7508A>C (p.Gln2503Pro)
n.875A>C
c.7241A>C (p.Gln2414Pro)
c.7502A>C (p.Gln2501Pro)
c.7514A>C (p.Gln2505Pro)
c.5639A>C (p.Gln1880Pro)
6g.129465233A>GCA3994491LAMA2c.7244A>G (p.Gln2415Arg)
c.7508A>G (p.Gln2503Arg)
n.875A>G
c.7241A>G (p.Gln2414Arg)
c.7502A>G (p.Gln2501Arg)
c.7514A>G (p.Gln2505Arg)
c.5639A>G (p.Gln1880Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.129465233A>TCA365621966LAMA2c.7244A>T (p.Gln2415Leu)
c.7508A>T (p.Gln2503Leu)
n.875A>T
c.7241A>T (p.Gln2414Leu)
c.7502A>T (p.Gln2501Leu)
c.7514A>T (p.Gln2505Leu)
c.5639A>T (p.Gln1880Leu)
6g.129465234A=CA1663192660LAMA2c.7245A= (p.Gln2415=)
c.7509A= (p.Gln2503=)
n.876A=
c.7242A= (p.Gln2414=)
c.7503A= (p.Gln2501=)
c.7515A= (p.Gln2505=)
c.5640A= (p.Gln1880=)
6g.129465234A>CCA365621967LAMA2c.7245A>C (p.Gln2415His)
c.7509A>C (p.Gln2503His)
n.876A>C
c.7242A>C (p.Gln2414His)
c.7503A>C (p.Gln2501His)
c.7515A>C (p.Gln2505His)
c.5640A>C (p.Gln1880His)
ClinVar dbSNP
6g.129465234A>GCA146892178LAMA2c.7245A>G (p.Gln2415=)
c.7509A>G (p.Gln2503=)
n.876A>G
c.7242A>G (p.Gln2414=)
c.7503A>G (p.Gln2501=)
c.7515A>G (p.Gln2505=)
c.5640A>G (p.Gln1880=)
dbSNP
6g.129465234A>TCA365621970LAMA2c.7245A>T (p.Gln2415His)
c.7509A>T (p.Gln2503His)
n.876A>T
c.7242A>T (p.Gln2414His)
c.7503A>T (p.Gln2501His)
c.7515A>T (p.Gln2505His)
c.5640A>T (p.Gln1880His)
6g.129465235A>CCA365621976LAMA2c.7246A>C (p.Asn2416His)
c.7510A>C (p.Asn2504His)
n.877A>C
c.7243A>C (p.Asn2415His)
c.7504A>C (p.Asn2502His)
c.7516A>C (p.Asn2506His)
c.5641A>C (p.Asn1881His)
6g.129465235A>GCA365621972LAMA2c.7246A>G (p.Asn2416Asp)
c.7510A>G (p.Asn2504Asp)
n.877A>G
c.7243A>G (p.Asn2415Asp)
c.7504A>G (p.Asn2502Asp)
c.7516A>G (p.Asn2506Asp)
c.5641A>G (p.Asn1881Asp)
6g.129465235A>TCA365621973LAMA2c.7246A>T (p.Asn2416Tyr)
c.7510A>T (p.Asn2504Tyr)
n.877A>T
c.7243A>T (p.Asn2415Tyr)
c.7504A>T (p.Asn2502Tyr)
c.7516A>T (p.Asn2506Tyr)
c.5641A>T (p.Asn1881Tyr)
6g.129465236A>CCA365621977LAMA2c.7247A>C (p.Asn2416Thr)
c.7511A>C (p.Asn2504Thr)
n.878A>C
c.7244A>C (p.Asn2415Thr)
c.7505A>C (p.Asn2502Thr)
c.7517A>C (p.Asn2506Thr)
c.5642A>C (p.Asn1881Thr)
6g.129465236A>GCA365621978LAMA2c.7247A>G (p.Asn2416Ser)
c.7511A>G (p.Asn2504Ser)
n.878A>G
c.7244A>G (p.Asn2415Ser)
c.7505A>G (p.Asn2502Ser)
c.7517A>G (p.Asn2506Ser)
c.5642A>G (p.Asn1881Ser)
6g.129465236A>TCA365621980LAMA2c.7247A>T (p.Asn2416Ile)
c.7511A>T (p.Asn2504Ile)
n.878A>T
c.7244A>T (p.Asn2415Ile)
c.7505A>T (p.Asn2502Ile)
c.7517A>T (p.Asn2506Ile)
c.5642A>T (p.Asn1881Ile)
6g.129465237C>ACA365621988LAMA2c.7248C>A (p.Asn2416Lys)
c.7512C>A (p.Asn2504Lys)
n.879C>A
c.7245C>A (p.Asn2415Lys)
c.7506C>A (p.Asn2502Lys)
c.7518C>A (p.Asn2506Lys)
c.5643C>A (p.Asn1881Lys)
6g.129465237C>GCA365621993LAMA2c.7248C>G (p.Asn2416Lys)
c.7512C>G (p.Asn2504Lys)
n.879C>G
c.7245C>G (p.Asn2415Lys)
c.7506C>G (p.Asn2502Lys)
c.7518C>G (p.Asn2506Lys)
c.5643C>G (p.Asn1881Lys)
6g.129465237C>TCA451926470LAMA2c.7248C>T (p.Asn2416=)
c.7512C>T (p.Asn2504=)
n.879C>T
c.7245C>T (p.Asn2415=)
c.7506C>T (p.Asn2502=)
c.7518C>T (p.Asn2506=)
c.5643C>T (p.Asn1881=)
gnomAD v4
6g.129465238C>ACA365621995LAMA2c.7249C>A (p.His2417Asn)
c.7513C>A (p.His2505Asn)
n.880C>A
c.7246C>A (p.His2416Asn)
c.7507C>A (p.His2503Asn)
c.7519C>A (p.His2507Asn)
c.5644C>A (p.His1882Asn)
6g.129465238C>GCA365621996LAMA2c.7249C>G (p.His2417Asp)
c.7513C>G (p.His2505Asp)
n.880C>G
c.7246C>G (p.His2416Asp)
c.7507C>G (p.His2503Asp)
c.7519C>G (p.His2507Asp)
c.5644C>G (p.His1882Asp)
gnomAD v3 gnomAD v4
6g.129465238C>TCA365621998LAMA2c.7249C>T (p.His2417Tyr)
c.7513C>T (p.His2505Tyr)
n.880C>T
c.7246C>T (p.His2416Tyr)
c.7507C>T (p.His2503Tyr)
c.7519C>T (p.His2507Tyr)
c.5644C>T (p.His1882Tyr)
6g.129465239A=CA1663192662LAMA2c.7250A= (p.His2417=)
c.7514A= (p.His2505=)
n.881A=
c.7247A= (p.His2416=)
c.7508A= (p.His2503=)
c.7520A= (p.His2507=)
c.5645A= (p.His1882=)
6g.129465239A>CCA365622000LAMA2c.7250A>C (p.His2417Pro)
c.7514A>C (p.His2505Pro)
n.881A>C
c.7247A>C (p.His2416Pro)
c.7508A>C (p.His2503Pro)
c.7520A>C (p.His2507Pro)
c.5645A>C (p.His1882Pro)
6g.129465239A>GCA295398LAMA2c.7250A>G (p.His2417Arg)
c.7514A>G (p.His2505Arg)
n.881A>G
c.7247A>G (p.His2416Arg)
c.7508A>G (p.His2503Arg)
c.7520A>G (p.His2507Arg)
c.5645A>G (p.His1882Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129465239A>TCA365622004LAMA2c.7250A>T (p.His2417Leu)
c.7514A>T (p.His2505Leu)
n.881A>T
c.7247A>T (p.His2416Leu)
c.7508A>T (p.His2503Leu)
c.7520A>T (p.His2507Leu)
c.5645A>T (p.His1882Leu)
6g.129465240T>ACA365622007LAMA2c.7251T>A (p.His2417Gln)
c.7515T>A (p.His2505Gln)
n.882T>A
c.7248T>A (p.His2416Gln)
c.7509T>A (p.His2503Gln)
c.7521T>A (p.His2507Gln)
c.5646T>A (p.His1882Gln)
6g.129465240T>CCA451926471LAMA2c.7251T>C (p.His2417=)
c.7515T>C (p.His2505=)
n.882T>C
c.7248T>C (p.His2416=)
c.7509T>C (p.His2503=)
c.7521T>C (p.His2507=)
c.5646T>C (p.His1882=)
ClinVar
6g.129465240T>GCA365622010LAMA2c.7251T>G (p.His2417Gln)
c.7515T>G (p.His2505Gln)
n.882T>G
c.7248T>G (p.His2416Gln)
c.7509T>G (p.His2503Gln)
c.7521T>G (p.His2507Gln)
c.5646T>G (p.His1882Gln)
6g.129465241A>CCA365622017LAMA2c.7252A>C (p.Asn2418His)
c.7516A>C (p.Asn2506His)
n.883A>C
c.7249A>C (p.Asn2417His)
c.7510A>C (p.Asn2504His)
c.7522A>C (p.Asn2508His)
c.5647A>C (p.Asn1883His)
6g.129465241A>GCA365622013LAMA2c.7252A>G (p.Asn2418Asp)
c.7516A>G (p.Asn2506Asp)
n.883A>G
c.7249A>G (p.Asn2417Asp)
c.7510A>G (p.Asn2504Asp)
c.7522A>G (p.Asn2508Asp)
c.5647A>G (p.Asn1883Asp)
6g.129465241A>TCA365622015LAMA2c.7252A>T (p.Asn2418Tyr)
c.7516A>T (p.Asn2506Tyr)
n.883A>T
c.7249A>T (p.Asn2417Tyr)
c.7510A>T (p.Asn2504Tyr)
c.7522A>T (p.Asn2508Tyr)
c.5647A>T (p.Asn1883Tyr)
6g.129465241_129465242insCACACCCAACACCA2773038003LAMA2c.7252_7253insCACACCCAACAC (p.Asn2418delinsThrHisProThrHis)
c.7516_7517insCACACCCAACAC (p.Asn2506delinsThrHisProThrHis)
n.883_884insCACACCCAACAC
c.7249_7250insCACACCCAACAC (p.Asn2417delinsThrHisProThrHis)
c.7510_7511insCACACCCAACAC (p.Asn2504delinsThrHisProThrHis)
c.7522_7523insCACACCCAACAC (p.Asn2508delinsThrHisProThrHis)
c.5647_5648insCACACCCAACAC (p.Asn1883delinsThrHisProThrHis)
6g.129465242A>CCA365622018LAMA2c.7253A>C (p.Asn2418Thr)
c.7517A>C (p.Asn2506Thr)
n.884A>C
c.7250A>C (p.Asn2417Thr)
c.7511A>C (p.Asn2504Thr)
c.7523A>C (p.Asn2508Thr)
c.5648A>C (p.Asn1883Thr)
6g.129465242A>GCA365622019LAMA2c.7253A>G (p.Asn2418Ser)
c.7517A>G (p.Asn2506Ser)
n.884A>G
c.7250A>G (p.Asn2417Ser)
c.7511A>G (p.Asn2504Ser)
c.7523A>G (p.Asn2508Ser)
c.5648A>G (p.Asn1883Ser)
6g.129465242A>TCA365622020LAMA2c.7253A>T (p.Asn2418Ile)
c.7517A>T (p.Asn2506Ile)
n.884A>T
c.7250A>T (p.Asn2417Ile)
c.7511A>T (p.Asn2504Ile)
c.7523A>T (p.Asn2508Ile)
c.5648A>T (p.Asn1883Ile)
6g.129465243T>ACA365622022LAMA2c.7254T>A (p.Asn2418Lys)
c.7518T>A (p.Asn2506Lys)
n.885T>A
c.7251T>A (p.Asn2417Lys)
c.7512T>A (p.Asn2504Lys)
c.7524T>A (p.Asn2508Lys)
c.5649T>A (p.Asn1883Lys)
6g.129465243T>CCA3994492LAMA2c.7254T>C (p.Asn2418=)
c.7518T>C (p.Asn2506=)
n.885T>C
c.7251T>C (p.Asn2417=)
c.7512T>C (p.Asn2504=)
c.7524T>C (p.Asn2508=)
c.5649T>C (p.Asn1883=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129465243T>GCA365622027LAMA2c.7254T>G (p.Asn2418Lys)
c.7518T>G (p.Asn2506Lys)
n.885T>G
c.7251T>G (p.Asn2417Lys)
c.7512T>G (p.Asn2504Lys)
c.7524T>G (p.Asn2508Lys)
c.5649T>G (p.Asn1883Lys)
6g.129465243T=CA1663192668LAMA2c.7254T= (p.Asn2418=)
c.7518T= (p.Asn2506=)
n.885T=
c.7251T= (p.Asn2417=)
c.7512T= (p.Asn2504=)
c.7524T= (p.Asn2508=)
c.5649T= (p.Asn1883=)

Number of alleles fetched