Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.112148193C>ACA365383475LAMA4c.2317G>T (p.Ala773Ser)
c.2296G>T (p.Ala766Ser)
c.187G>T (p.Ala63Ser)
c.729G>T
n.2588G>T
n.2567G>T
n.429-7127C>A
6g.112148193C=CA1655234250LAMA4c.2317G= (p.Ala773=)
c.2296G= (p.Ala766=)
c.187G= (p.Ala63=)
c.729G=
n.2588G=
n.2567G=
n.429-7127C=
6g.112148193C>GCA365383476LAMA4c.2317G>C (p.Ala773Pro)
c.2296G>C (p.Ala766Pro)
c.187G>C (p.Ala63Pro)
c.729G>C
n.2588G>C
n.2567G>C
n.429-7127C>G
6g.112148193C>TCA3965511LAMA4c.2317G>A (p.Ala773Thr)
c.2296G>A (p.Ala766Thr)
c.187G>A (p.Ala63Thr)
c.729G>A
n.2588G>A
n.2567G>A
n.429-7127C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148194A=CA1655234251LAMA4c.2316T= (p.Ser772=)
c.2295T= (p.Ser765=)
c.186T= (p.Ser62=)
c.728T=
n.2587T=
n.2566T=
n.429-7126A=
6g.112148194A>CCA451606807LAMA4c.2316T>G (p.Ser772=)
c.2295T>G (p.Ser765=)
c.186T>G (p.Ser62=)
c.728T>G
n.2587T>G
n.2566T>G
n.429-7126A>C
6g.112148194A>GCA3965512LAMA4c.2316T>C (p.Ser772=)
c.2295T>C (p.Ser765=)
c.186T>C (p.Ser62=)
c.728T>C
n.2587T>C
n.2566T>C
n.429-7126A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148194A>TCA451606808LAMA4c.2316T>A (p.Ser772=)
c.2295T>A (p.Ser765=)
c.186T>A (p.Ser62=)
c.728T>A
n.2587T>A
n.2566T>A
n.429-7126A>T
6g.112148195G>ACA365383477LAMA4c.2315C>T (p.Ser772Phe)
c.2294C>T (p.Ser765Phe)
c.185C>T (p.Ser62Phe)
c.727C>T
n.2586C>T
n.2565C>T
n.429-7125G>A
 gnomAD v4 COSMIC
6g.112148195G>CCA365383478LAMA4c.2315C>G (p.Ser772Cys)
c.2294C>G (p.Ser765Cys)
c.185C>G (p.Ser62Cys)
c.727C>G
n.2586C>G
n.2565C>G
n.429-7125G>C
6g.112148195G>TCA365383479LAMA4c.2315C>A (p.Ser772Tyr)
c.2294C>A (p.Ser765Tyr)
c.185C>A (p.Ser62Tyr)
c.727C>A
n.2586C>A
n.2565C>A
n.429-7125G>T
6g.112148196A>CCA365383480LAMA4c.2314T>G (p.Ser772Ala)
c.2293T>G (p.Ser765Ala)
c.184T>G (p.Ser62Ala)
c.726T>G
n.2585T>G
n.2564T>G
n.429-7124A>C
6g.112148196A>GCA365383481LAMA4c.2314T>C (p.Ser772Pro)
c.2293T>C (p.Ser765Pro)
c.184T>C (p.Ser62Pro)
c.726T>C
n.2585T>C
n.2564T>C
n.429-7124A>G
 gnomAD v4
6g.112148196A>TCA365383482LAMA4c.2314T>A (p.Ser772Thr)
c.2293T>A (p.Ser765Thr)
c.184T>A (p.Ser62Thr)
c.726T>A
n.2585T>A
n.2564T>A
n.429-7124A>T
6g.112148197A>CCA451606810LAMA4c.2313T>G (p.Ser771=)
c.2292T>G (p.Ser764=)
c.183T>G (p.Ser61=)
c.725T>G
n.2584T>G
n.2563T>G
n.429-7123A>C
6g.112148197A>GCA451606811LAMA4c.2313T>C (p.Ser771=)
c.2292T>C (p.Ser764=)
c.183T>C (p.Ser61=)
c.725T>C
n.2584T>C
n.2563T>C
n.429-7123A>G
6g.112148197A>TCA451606813LAMA4c.2313T>A (p.Ser771=)
c.2292T>A (p.Ser764=)
c.183T>A (p.Ser61=)
c.725T>A
n.2584T>A
n.2563T>A
n.429-7123A>T
6g.112148198G>ACA365383483LAMA4c.2312C>T (p.Ser771Phe)
c.2291C>T (p.Ser764Phe)
c.182C>T (p.Ser61Phe)
c.724C>T
n.2583C>T
n.2562C>T
n.429-7122G>A
 gnomAD v4
6g.112148198G>CCA365383484LAMA4c.2312C>G (p.Ser771Cys)
c.2291C>G (p.Ser764Cys)
c.182C>G (p.Ser61Cys)
c.724C>G
n.2583C>G
n.2562C>G
n.429-7122G>C
6g.112148198G>TCA365383485LAMA4c.2312C>A (p.Ser771Tyr)
c.2291C>A (p.Ser764Tyr)
c.182C>A (p.Ser61Tyr)
c.724C>A
n.2583C>A
n.2562C>A
n.429-7122G>T
6g.112148198_112148199delinsGACA1655234252LAMA4c.2311_2312delinsTC (p.Ser771=)
c.2290_2291delinsTC (p.Ser764=)
c.181_182delinsTC (p.Ser61=)
c.723_724delinsTC
n.2582_2583delinsTC
n.2561_2562delinsTC
n.429-7122_429-7121delinsGA
6g.112148199delCA3965513LAMA4c.2311del (p.Ser771LeufsTer8)
c.2290del (p.Ser764LeufsTer8)
c.181del (p.Ser61LeufsTer8)
c.723del
n.2582del
n.2561del
n.429-7121del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148199A>CCA365383488LAMA4c.2311T>G (p.Ser771Ala)
c.2290T>G (p.Ser764Ala)
c.181T>G (p.Ser61Ala)
c.723T>G
n.2582T>G
n.2561T>G
n.429-7121A>C
6g.112148199A>GCA365383487LAMA4c.2311T>C (p.Ser771Pro)
c.2290T>C (p.Ser764Pro)
c.181T>C (p.Ser61Pro)
c.723T>C
n.2582T>C
n.2561T>C
n.429-7121A>G
6g.112148199A>TCA365383486LAMA4c.2311T>A (p.Ser771Thr)
c.2290T>A (p.Ser764Thr)
c.181T>A (p.Ser61Thr)
c.723T>A
n.2582T>A
n.2561T>A
n.429-7121A>T
6g.112148200G>ACA451606814LAMA4c.2310C>T (p.Asp770=)
c.2289C>T (p.Asp763=)
c.180C>T (p.Asp60=)
c.722C>T
n.2581C>T
n.2560C>T
n.429-7120G>A
 gnomAD v4
6g.112148200G>CCA365383489LAMA4c.2310C>G (p.Asp770Glu)
c.2289C>G (p.Asp763Glu)
c.180C>G (p.Asp60Glu)
c.722C>G
n.2581C>G
n.2560C>G
n.429-7120G>C
6g.112148200G>TCA365383490LAMA4c.2310C>A (p.Asp770Glu)
c.2289C>A (p.Asp763Glu)
c.180C>A (p.Asp60Glu)
c.722C>A
n.2581C>A
n.2560C>A
n.429-7120G>T
6g.112148201T>ACA365383491LAMA4c.2309A>T (p.Asp770Val)
c.2288A>T (p.Asp763Val)
c.179A>T (p.Asp60Val)
c.721A>T
n.2580A>T
n.2559A>T
n.429-7119T>A
6g.112148201T>CCA365383492LAMA4c.2309A>G (p.Asp770Gly)
c.2288A>G (p.Asp763Gly)
c.179A>G (p.Asp60Gly)
c.721A>G
n.2580A>G
n.2559A>G
n.429-7119T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.112148201T>GCA365383493LAMA4c.2309A>C (p.Asp770Ala)
c.2288A>C (p.Asp763Ala)
c.179A>C (p.Asp60Ala)
c.721A>C
n.2580A>C
n.2559A>C
n.429-7119T>G
6g.112148201T=CA1655234253LAMA4c.2309A= (p.Asp770=)
c.2288A= (p.Asp763=)
c.179A= (p.Asp60=)
c.721A=
n.2580A=
n.2559A=
n.429-7119T=
6g.112148202C>ACA3965514LAMA4c.2308G>T (p.Asp770Tyr)
c.2287G>T (p.Asp763Tyr)
c.178G>T (p.Asp60Tyr)
c.720G>T
n.2579G>T
n.2558G>T
n.429-7118C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148202C=CA1655234254LAMA4c.2308G= (p.Asp770=)
c.2287G= (p.Asp763=)
c.178G= (p.Asp60=)
c.720G=
n.2579G=
n.2558G=
n.429-7118C=
6g.112148202C>GCA365383494LAMA4c.2308G>C (p.Asp770His)
c.2287G>C (p.Asp763His)
c.178G>C (p.Asp60His)
c.720G>C
n.2579G>C
n.2558G>C
n.429-7118C>G
6g.112148202C>TCA365383495LAMA4c.2308G>A (p.Asp770Asn)
c.2287G>A (p.Asp763Asn)
c.178G>A (p.Asp60Asn)
c.720G>A
n.2579G>A
n.2558G>A
n.429-7118C>T
6g.112148203A>CCA365383496LAMA4c.2307T>G (p.Phe769Leu)
c.2286T>G (p.Phe762Leu)
c.177T>G (p.Phe59Leu)
c.719T>G
n.2578T>G
n.2557T>G
n.429-7117A>C
6g.112148203A>GCA451606818LAMA4c.2307T>C (p.Phe769=)
c.2286T>C (p.Phe762=)
c.177T>C (p.Phe59=)
c.719T>C
n.2578T>C
n.2557T>C
n.429-7117A>G
6g.112148203A>TCA365383497LAMA4c.2307T>A (p.Phe769Leu)
c.2286T>A (p.Phe762Leu)
c.177T>A (p.Phe59Leu)
c.719T>A
n.2578T>A
n.2557T>A
n.429-7117A>T
6g.112148204A>CCA365383498LAMA4c.2306T>G (p.Phe769Cys)
c.2285T>G (p.Phe762Cys)
c.176T>G (p.Phe59Cys)
c.718T>G
n.2577T>G
n.2556T>G
n.429-7116A>C
6g.112148204A>GCA365383499LAMA4c.2306T>C (p.Phe769Ser)
c.2285T>C (p.Phe762Ser)
c.176T>C (p.Phe59Ser)
c.718T>C
n.2577T>C
n.2556T>C
n.429-7116A>G
 gnomAD v4
6g.112148204A>TCA365383500LAMA4c.2306T>A (p.Phe769Tyr)
c.2285T>A (p.Phe762Tyr)
c.176T>A (p.Phe59Tyr)
c.718T>A
n.2577T>A
n.2556T>A
n.429-7116A>T
6g.112148205A=CA1655234255LAMA4c.2305T= (p.Phe769=)
c.2284T= (p.Phe762=)
c.175T= (p.Phe59=)
c.717T=
n.2576T=
n.2555T=
n.429-7115A=
6g.112148205A>CCA365383503LAMA4c.2305T>G (p.Phe769Val)
c.2284T>G (p.Phe762Val)
c.175T>G (p.Phe59Val)
c.717T>G
n.2576T>G
n.2555T>G
n.429-7115A>C
6g.112148205A>GCA365383501LAMA4c.2305T>C (p.Phe769Leu)
c.2284T>C (p.Phe762Leu)
c.175T>C (p.Phe59Leu)
c.717T>C
n.2576T>C
n.2555T>C
n.429-7115A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.112148205A>TCA365383502LAMA4c.2305T>A (p.Phe769Ile)
c.2284T>A (p.Phe762Ile)
c.175T>A (p.Phe59Ile)
c.717T>A
n.2576T>A
n.2555T>A
n.429-7115A>T
6g.112148206A>CCA365383504LAMA4c.2304T>G (p.His768Gln)
c.2283T>G (p.His761Gln)
c.174T>G (p.His58Gln)
c.716T>G
n.2575T>G
n.2554T>G
n.429-7114A>C
6g.112148206A>GCA451606819LAMA4c.2304T>C (p.His768=)
c.2283T>C (p.His761=)
c.174T>C (p.His58=)
c.716T>C
n.2575T>C
n.2554T>C
n.429-7114A>G
6g.112148206A>TCA365383505LAMA4c.2304T>A (p.His768Gln)
c.2283T>A (p.His761Gln)
c.174T>A (p.His58Gln)
c.716T>A
n.2575T>A
n.2554T>A
n.429-7114A>T
6g.112148206_112148207insAACAGTTTTCTTCATTTGGGTTCA2503429309LAMA4c.2303_2304insAACCCAAATGAAGAAAACTGTT (p.His768GlnfsTer10)
c.2282_2283insAACCCAAATGAAGAAAACTGTT (p.His761GlnfsTer10)
c.173_174insAACCCAAATGAAGAAAACTGTT (p.His58GlnfsTer10)
c.715_716insAACCCAAATGAAGAAAACTGTT
n.2574_2575insAACCCAAATGAAGAAAACTGTT
n.2553_2554insAACCCAAATGAAGAAAACTGTT
n.429-7114_429-7113insAACAGTTTTCTTCATTTGGGTT

Number of alleles fetched