Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.112148207T>ACA365383506LAMA4c.2303A>T (p.His768Leu)
c.2282A>T (p.His761Leu)
c.173A>T (p.His58Leu)
c.715A>T
n.2574A>T
n.2553A>T
n.429-7113T>A
6g.112148207T>CCA365383507LAMA4c.2303A>G (p.His768Arg)
c.2282A>G (p.His761Arg)
c.173A>G (p.His58Arg)
c.715A>G
n.2574A>G
n.2553A>G
n.429-7113T>C
 gnomAD v4
6g.112148207T>GCA365383508LAMA4c.2303A>C (p.His768Pro)
c.2282A>C (p.His761Pro)
c.173A>C (p.His58Pro)
c.715A>C
n.2574A>C
n.2553A>C
n.429-7113T>G
6g.112148208G>ACA3965515LAMA4c.2302C>T (p.His768Tyr)
c.2281C>T (p.His761Tyr)
c.172C>T (p.His58Tyr)
c.714C>T
n.2573C>T
n.2552C>T
n.429-7112G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148208G>CCA365383510LAMA4c.2302C>G (p.His768Asp)
c.2281C>G (p.His761Asp)
c.172C>G (p.His58Asp)
c.714C>G
n.2573C>G
n.2552C>G
n.429-7112G>C
6g.112148208G=CA1655234256LAMA4c.2302C= (p.His768=)
c.2281C= (p.His761=)
c.172C= (p.His58=)
c.714C=
n.2573C=
n.2552C=
n.429-7112G=
6g.112148208G>TCA365383509LAMA4c.2302C>A (p.His768Asn)
c.2281C>A (p.His761Asn)
c.172C>A (p.His58Asn)
c.714C>A
n.2573C>A
n.2552C>A
n.429-7112G>T
6g.112148209T>ACA365383511LAMA4c.2301A>T (p.Gln767His)
c.2280A>T (p.Gln760His)
c.171A>T (p.Gln57His)
c.713A>T
n.2572A>T
n.2551A>T
n.429-7111T>A
6g.112148209T>CCA3965516LAMA4c.2301A>G (p.Gln767=)
c.2280A>G (p.Gln760=)
c.171A>G (p.Gln57=)
c.713A>G
n.2572A>G
n.2551A>G
n.429-7111T>C
 dbSNP ExAC gnomAD v2
6g.112148209T>GCA365383512LAMA4c.2301A>C (p.Gln767His)
c.2280A>C (p.Gln760His)
c.171A>C (p.Gln57His)
c.713A>C
n.2572A>C
n.2551A>C
n.429-7111T>G
6g.112148209T=CA1655234257LAMA4c.2301A= (p.Gln767=)
c.2280A= (p.Gln760=)
c.171A= (p.Gln57=)
c.713A=
n.2572A=
n.2551A=
n.429-7111T=
6g.112148210T>ACA365383513LAMA4c.2300A>T (p.Gln767Leu)
c.2279A>T (p.Gln760Leu)
c.170A>T (p.Gln57Leu)
c.712A>T
n.2571A>T
n.2550A>T
n.429-7110T>A
6g.112148210T>CCA365383514LAMA4c.2300A>G (p.Gln767Arg)
c.2279A>G (p.Gln760Arg)
c.170A>G (p.Gln57Arg)
c.712A>G
n.2571A>G
n.2550A>G
n.429-7110T>C
6g.112148210T>GCA365383515LAMA4c.2300A>C (p.Gln767Pro)
c.2279A>C (p.Gln760Pro)
c.170A>C (p.Gln57Pro)
c.712A>C
n.2571A>C
n.2550A>C
n.429-7110T>G
6g.112148211G>ACA365383516LAMA4c.2299C>T (p.Gln767Ter)
c.2278C>T (p.Gln760Ter)
c.169C>T (p.Gln57Ter)
c.711C>T
n.2570C>T
n.2549C>T
n.429-7109G>A
6g.112148211G>CCA365383518LAMA4c.2299C>G (p.Gln767Glu)
c.2278C>G (p.Gln760Glu)
c.169C>G (p.Gln57Glu)
c.711C>G
n.2570C>G
n.2549C>G
n.429-7109G>C
6g.112148211G>TCA365383517LAMA4c.2299C>A (p.Gln767Lys)
c.2278C>A (p.Gln760Lys)
c.169C>A (p.Gln57Lys)
c.711C>A
n.2570C>A
n.2549C>A
n.429-7109G>T
6g.112148212A>CCA451606825LAMA4c.2298T>G (p.Leu766=)
c.2277T>G (p.Leu759=)
c.168T>G (p.Leu56=)
c.710T>G
n.2569T>G
n.2548T>G
n.429-7108A>C
6g.112148212A>GCA451606826LAMA4c.2298T>C (p.Leu766=)
c.2277T>C (p.Leu759=)
c.168T>C (p.Leu56=)
c.710T>C
n.2569T>C
n.2548T>C
n.429-7108A>G
6g.112148212A>TCA451606827LAMA4c.2298T>A (p.Leu766=)
c.2277T>A (p.Leu759=)
c.168T>A (p.Leu56=)
c.710T>A
n.2569T>A
n.2548T>A
n.429-7108A>T
6g.112148213A=CA1655234258LAMA4c.2297T= (p.Leu766=)
c.2276T= (p.Leu759=)
c.167T= (p.Leu56=)
c.709T=
n.2568T=
n.2547T=
n.429-7107A=
6g.112148213A>CCA365383519LAMA4c.2297T>G (p.Leu766Arg)
c.2276T>G (p.Leu759Arg)
c.167T>G (p.Leu56Arg)
c.709T>G
n.2568T>G
n.2547T>G
n.429-7107A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.112148213A>GCA365383520LAMA4c.2297T>C (p.Leu766Pro)
c.2276T>C (p.Leu759Pro)
c.167T>C (p.Leu56Pro)
c.709T>C
n.2568T>C
n.2547T>C
n.429-7107A>G
6g.112148213A>TCA365383521LAMA4c.2297T>A (p.Leu766His)
c.2276T>A (p.Leu759His)
c.167T>A (p.Leu56His)
c.709T>A
n.2568T>A
n.2547T>A
n.429-7107A>T
6g.112148214G>ACA365383522LAMA4c.2296C>T (p.Leu766Phe)
c.2275C>T (p.Leu759Phe)
c.166C>T (p.Leu56Phe)
c.708C>T
n.2567C>T
n.2546C>T
n.429-7106G>A
6g.112148214G>CCA365383523LAMA4c.2296C>G (p.Leu766Val)
c.2275C>G (p.Leu759Val)
c.166C>G (p.Leu56Val)
c.708C>G
n.2567C>G
n.2546C>G
n.429-7106G>C
6g.112148214G>TCA365383524LAMA4c.2296C>A (p.Leu766Ile)
c.2275C>A (p.Leu759Ile)
c.166C>A (p.Leu56Ile)
c.708C>A
n.2567C>A
n.2546C>A
n.429-7106G>T
6g.112148215A=CA1655234259LAMA4c.2295T= (p.Asn765=)
c.2274T= (p.Asn758=)
c.165T= (p.Asn55=)
c.707T=
n.2566T=
n.2545T=
n.429-7105A=
6g.112148215A>CCA144897435LAMA4c.2295T>G (p.Asn765Lys)
c.2274T>G (p.Asn758Lys)
c.165T>G (p.Asn55Lys)
c.707T>G
n.2566T>G
n.2545T>G
n.429-7105A>C
 dbSNP
6g.112148215A>GCA451606828LAMA4c.2295T>C (p.Asn765=)
c.2274T>C (p.Asn758=)
c.165T>C (p.Asn55=)
c.707T>C
n.2566T>C
n.2545T>C
n.429-7105A>G
6g.112148215A>TCA365383525LAMA4c.2295T>A (p.Asn765Lys)
c.2274T>A (p.Asn758Lys)
c.165T>A (p.Asn55Lys)
c.707T>A
n.2566T>A
n.2545T>A
n.429-7105A>T
6g.112148216T>ACA365383526LAMA4c.2294A>T (p.Asn765Ile)
c.2273A>T (p.Asn758Ile)
c.164A>T (p.Asn55Ile)
c.706A>T
n.2565A>T
n.2544A>T
n.429-7104T>A
6g.112148216T>CCA365383527LAMA4c.2294A>G (p.Asn765Ser)
c.2273A>G (p.Asn758Ser)
c.164A>G (p.Asn55Ser)
c.706A>G
n.2565A>G
n.2544A>G
n.429-7104T>C
 dbSNP gnomAD v2 gnomAD v4
6g.112148216T>GCA365383528LAMA4c.2294A>C (p.Asn765Thr)
c.2273A>C (p.Asn758Thr)
c.164A>C (p.Asn55Thr)
c.706A>C
n.2565A>C
n.2544A>C
n.429-7104T>G
6g.112148216T=CA1655234260LAMA4c.2294A= (p.Asn765=)
c.2273A= (p.Asn758=)
c.164A= (p.Asn55=)
c.706A=
n.2565A=
n.2544A=
n.429-7104T=
6g.112148217T>ACA365383529LAMA4c.2293A>T (p.Asn765Tyr)
c.2272A>T (p.Asn758Tyr)
c.163A>T (p.Asn55Tyr)
c.705A>T
n.2564A>T
n.2543A>T
n.429-7103T>A
6g.112148217T>CCA365383531LAMA4c.2293A>G (p.Asn765Asp)
c.2272A>G (p.Asn758Asp)
c.163A>G (p.Asn55Asp)
c.705A>G
n.2564A>G
n.2543A>G
n.429-7103T>C
6g.112148217T>GCA365383530LAMA4c.2293A>C (p.Asn765His)
c.2272A>C (p.Asn758His)
c.163A>C (p.Asn55His)
c.705A>C
n.2564A>C
n.2543A>C
n.429-7103T>G
6g.112148218C>ACA365383532LAMA4c.2292G>T (p.Gln764His)
c.2271G>T (p.Gln757His)
c.162G>T (p.Gln54His)
c.704G>T
n.2563G>T
n.2542G>T
n.429-7102C>A
6g.112148218C>GCA365383533LAMA4c.2292G>C (p.Gln764His)
c.2271G>C (p.Gln757His)
c.162G>C (p.Gln54His)
c.704G>C
n.2563G>C
n.2542G>C
n.429-7102C>G
6g.112148218C>TCA451606830LAMA4c.2292G>A (p.Gln764=)
c.2271G>A (p.Gln757=)
c.162G>A (p.Gln54=)
c.704G>A
n.2563G>A
n.2542G>A
n.429-7102C>T
6g.112148219T>ACA365383534LAMA4c.2291A>T (p.Gln764Leu)
c.2270A>T (p.Gln757Leu)
c.161A>T (p.Gln54Leu)
c.703A>T
n.2562A>T
n.2541A>T
n.429-7101T>A
6g.112148219T>CCA365383535LAMA4c.2291A>G (p.Gln764Arg)
c.2270A>G (p.Gln757Arg)
c.161A>G (p.Gln54Arg)
c.703A>G
n.2562A>G
n.2541A>G
n.429-7101T>C
6g.112148219T>GCA365383536LAMA4c.2291A>C (p.Gln764Pro)
c.2270A>C (p.Gln757Pro)
c.161A>C (p.Gln54Pro)
c.703A>C
n.2562A>C
n.2541A>C
n.429-7101T>G
6g.112148220G>ACA365383537LAMA4c.2290C>T (p.Gln764Ter)
c.2269C>T (p.Gln757Ter)
c.160C>T (p.Gln54Ter)
c.702C>T
n.2561C>T
n.2540C>T
n.429-7100G>A
6g.112148220G>CCA365383538LAMA4c.2290C>G (p.Gln764Glu)
c.2269C>G (p.Gln757Glu)
c.160C>G (p.Gln54Glu)
c.702C>G
n.2561C>G
n.2540C>G
n.429-7100G>C
6g.112148220G>TCA365383539LAMA4c.2290C>A (p.Gln764Lys)
c.2269C>A (p.Gln757Lys)
c.160C>A (p.Gln54Lys)
c.702C>A
n.2561C>A
n.2540C>A
n.429-7100G>T
6g.112148221T>ACA451606834LAMA4c.2289A>T (p.Ser763=)
c.2268A>T (p.Ser756=)
c.159A>T (p.Ser53=)
c.701A>T
n.2560A>T
n.2539A>T
n.429-7099T>A
6g.112148221T>CCA451606833LAMA4c.2289A>G (p.Ser763=)
c.2268A>G (p.Ser756=)
c.159A>G (p.Ser53=)
c.701A>G
n.2560A>G
n.2539A>G
n.429-7099T>C
6g.112148221T>GCA451606832LAMA4c.2289A>C (p.Ser763=)
c.2268A>C (p.Ser756=)
c.159A>C (p.Ser53=)
c.701A>C
n.2560A>C
n.2539A>C
n.429-7099T>G
6g.112148222G>ACA365383542LAMA4c.2288C>T (p.Ser763Leu)
c.2267C>T (p.Ser756Leu)
c.158C>T (p.Ser53Leu)
c.700C>T
n.2559C>T
n.2538C>T
n.429-7098G>A
6g.112148222G>CCA365383541LAMA4c.2288C>G (p.Ser763Ter)
c.2267C>G (p.Ser756Ter)
c.158C>G (p.Ser53Ter)
c.700C>G
n.2559C>G
n.2538C>G
n.429-7098G>C
6g.112148222G>TCA365383540LAMA4c.2288C>A (p.Ser763Ter)
c.2267C>A (p.Ser756Ter)
c.158C>A (p.Ser53Ter)
c.700C>A
n.2559C>A
n.2538C>A
n.429-7098G>T
6g.112148223A=CA1655234261LAMA4c.2287T= (p.Ser763=)
c.2266T= (p.Ser756=)
c.157T= (p.Ser53=)
c.699T=
n.2558T=
n.2537T=
n.429-7097A=
6g.112148223A>CCA365383543LAMA4c.2287T>G (p.Ser763Ala)
c.2266T>G (p.Ser756Ala)
c.157T>G (p.Ser53Ala)
c.699T>G
n.2558T>G
n.2537T>G
n.429-7097A>C
6g.112148223A>GCA365383544LAMA4c.2287T>C (p.Ser763Pro)
c.2266T>C (p.Ser756Pro)
c.157T>C (p.Ser53Pro)
c.699T>C
n.2558T>C
n.2537T>C
n.429-7097A>G
 dbSNP
6g.112148223A>TCA365383545LAMA4c.2287T>A (p.Ser763Thr)
c.2266T>A (p.Ser756Thr)
c.157T>A (p.Ser53Thr)
c.699T>A
n.2558T>A
n.2537T>A
n.429-7097A>T
6g.112148224C>ACA3965517LAMA4c.2286G>T (p.Trp762Cys)
c.2265G>T (p.Trp755Cys)
c.156G>T (p.Trp52Cys)
c.698G>T
n.2557G>T
n.2536G>T
n.429-7096C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148224C=CA1655234262LAMA4c.2286G= (p.Trp762=)
c.2265G= (p.Trp755=)
c.156G= (p.Trp52=)
c.698G=
n.2557G=
n.2536G=
n.429-7096C=
6g.112148224C>GCA365383546LAMA4c.2286G>C (p.Trp762Cys)
c.2265G>C (p.Trp755Cys)
c.156G>C (p.Trp52Cys)
c.698G>C
n.2557G>C
n.2536G>C
n.429-7096C>G
6g.112148224C>TCA365383547LAMA4c.2286G>A (p.Trp762Ter)
c.2265G>A (p.Trp755Ter)
c.156G>A (p.Trp52Ter)
c.698G>A
n.2557G>A
n.2536G>A
n.429-7096C>T
6g.112148225C>ACA365383548LAMA4c.2285G>T (p.Trp762Leu)
c.2264G>T (p.Trp755Leu)
c.155G>T (p.Trp52Leu)
c.697G>T
n.2556G>T
n.2535G>T
n.429-7095C>A
6g.112148225C>GCA365383550LAMA4c.2285G>C (p.Trp762Ser)
c.2264G>C (p.Trp755Ser)
c.155G>C (p.Trp52Ser)
c.697G>C
n.2556G>C
n.2535G>C
n.429-7095C>G
6g.112148225C>TCA365383549LAMA4c.2285G>A (p.Trp762Ter)
c.2264G>A (p.Trp755Ter)
c.155G>A (p.Trp52Ter)
c.697G>A
n.2556G>A
n.2535G>A
n.429-7095C>T
6g.112148226A>CCA365383551LAMA4c.2284T>G (p.Trp762Gly)
c.2263T>G (p.Trp755Gly)
c.154T>G (p.Trp52Gly)
c.696T>G
n.2555T>G
n.2534T>G
n.429-7094A>C
 gnomAD v4
6g.112148226A>GCA365383552LAMA4c.2284T>C (p.Trp762Arg)
c.2263T>C (p.Trp755Arg)
c.154T>C (p.Trp52Arg)
c.696T>C
n.2555T>C
n.2534T>C
n.429-7094A>G
6g.112148226A>TCA365383553LAMA4c.2284T>A (p.Trp762Arg)
c.2263T>A (p.Trp755Arg)
c.154T>A (p.Trp52Arg)
c.696T>A
n.2555T>A
n.2534T>A
n.429-7094A>T
6g.112148227G>ACA451606835LAMA4c.2283C>T (p.Asn761=)
c.2262C>T (p.Asn754=)
c.153C>T (p.Asn51=)
c.695C>T
n.2554C>T
n.2533C>T
n.429-7093G>A
6g.112148227G>CCA365383554LAMA4c.2283C>G (p.Asn761Lys)
c.2262C>G (p.Asn754Lys)
c.153C>G (p.Asn51Lys)
c.695C>G
n.2554C>G
n.2533C>G
n.429-7093G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.112148227G=CA1655234263LAMA4c.2283C= (p.Asn761=)
c.2262C= (p.Asn754=)
c.153C= (p.Asn51=)
c.695C=
n.2554C=
n.2533C=
n.429-7093G=
6g.112148227G>TCA365383555LAMA4c.2283C>A (p.Asn761Lys)
c.2262C>A (p.Asn754Lys)
c.153C>A (p.Asn51Lys)
c.695C>A
n.2554C>A
n.2533C>A
n.429-7093G>T
6g.112148228T>ACA365383556LAMA4c.2282A>T (p.Asn761Ile)
c.2261A>T (p.Asn754Ile)
c.152A>T (p.Asn51Ile)
c.694A>T
n.2553A>T
n.2532A>T
n.429-7092T>A
6g.112148228T>CCA365383557LAMA4c.2282A>G (p.Asn761Ser)
c.2261A>G (p.Asn754Ser)
c.152A>G (p.Asn51Ser)
c.694A>G
n.2553A>G
n.2532A>G
n.429-7092T>C
 gnomAD v4
6g.112148228T>GCA365383558LAMA4c.2282A>C (p.Asn761Thr)
c.2261A>C (p.Asn754Thr)
c.152A>C (p.Asn51Thr)
c.694A>C
n.2553A>C
n.2532A>C
n.429-7092T>G
6g.112148229T>ACA365383559LAMA4c.2281A>T (p.Asn761Tyr)
c.2260A>T (p.Asn754Tyr)
c.151A>T (p.Asn51Tyr)
c.693A>T
n.2552A>T
n.2531A>T
n.429-7091T>A
6g.112148229T>CCA365383560LAMA4c.2281A>G (p.Asn761Asp)
c.2260A>G (p.Asn754Asp)
c.151A>G (p.Asn51Asp)
c.693A>G
n.2552A>G
n.2531A>G
n.429-7091T>C
 ClinVar dbSNP
6g.112148229T>GCA365383561LAMA4c.2281A>C (p.Asn761His)
c.2260A>C (p.Asn754His)
c.151A>C (p.Asn51His)
c.693A>C
n.2552A>C
n.2531A>C
n.429-7091T>G
6g.112148229T=CA1655234264LAMA4c.2281A= (p.Asn761=)
c.2260A= (p.Asn754=)
c.151A= (p.Asn51=)
c.693A=
n.2552A=
n.2531A=
n.429-7091T=
6g.112148230G>ACA451606836LAMA4c.2280C>T (p.Thr760=)
c.2259C>T (p.Thr753=)
c.150C>T (p.Thr50=)
c.692C>T
n.2551C>T
n.2530C>T
n.429-7090G>A
 dbSNP
6g.112148230G>CCA451606837LAMA4c.2280C>G (p.Thr760=)
c.2259C>G (p.Thr753=)
c.150C>G (p.Thr50=)
c.692C>G
n.2551C>G
n.2530C>G
n.429-7090G>C
6g.112148230G=CA1655234265LAMA4c.2280C= (p.Thr760=)
c.2259C= (p.Thr753=)
c.150C= (p.Thr50=)
c.692C=
n.2551C=
n.2530C=
n.429-7090G=
6g.112148230G>TCA451606838LAMA4c.2280C>A (p.Thr760=)
c.2259C>A (p.Thr753=)
c.150C>A (p.Thr50=)
c.692C>A
n.2551C>A
n.2530C>A
n.429-7090G>T
6g.112148231G>ACA365383562LAMA4c.2279C>T (p.Thr760Ile)
c.2258C>T (p.Thr753Ile)
c.149C>T (p.Thr50Ile)
c.691C>T
n.2550C>T
n.2529C>T
n.429-7089G>A
 ClinVar
6g.112148231G>CCA365383564LAMA4c.2279C>G (p.Thr760Ser)
c.2258C>G (p.Thr753Ser)
c.149C>G (p.Thr50Ser)
c.691C>G
n.2550C>G
n.2529C>G
n.429-7089G>C
6g.112148231G=CA1655234266LAMA4c.2279C= (p.Thr760=)
c.2258C= (p.Thr753=)
c.149C= (p.Thr50=)
c.691C=
n.2550C=
n.2529C=
n.429-7089G=
6g.112148231G>TCA365383563LAMA4c.2279C>A (p.Thr760Asn)
c.2258C>A (p.Thr753Asn)
c.149C>A (p.Thr50Asn)
c.691C>A
n.2550C>A
n.2529C>A
n.429-7089G>T
 dbSNP gnomAD v2 gnomAD v4
6g.112148232T>ACA365383565LAMA4c.2278A>T (p.Thr760Ser)
c.2257A>T (p.Thr753Ser)
c.148A>T (p.Thr50Ser)
c.690A>T
n.2549A>T
n.2528A>T
n.429-7088T>A
6g.112148232T>CCA365383566LAMA4c.2278A>G (p.Thr760Ala)
c.2257A>G (p.Thr753Ala)
c.148A>G (p.Thr50Ala)
c.690A>G
n.2549A>G
n.2528A>G
n.429-7088T>C
6g.112148232T>GCA365383567LAMA4c.2278A>C (p.Thr760Pro)
c.2257A>C (p.Thr753Pro)
c.148A>C (p.Thr50Pro)
c.690A>C
n.2549A>C
n.2528A>C
n.429-7088T>G
6g.112148233T>ACA451606841LAMA4c.2277A>T (p.Leu759=)
c.2256A>T (p.Leu752=)
c.147A>T (p.Leu49=)
c.689A>T
n.2548A>T
n.2527A>T
n.429-7087T>A
6g.112148233T>CCA3965518LAMA4c.2277A>G (p.Leu759=)
c.2256A>G (p.Leu752=)
c.147A>G (p.Leu49=)
c.689A>G
n.2548A>G
n.2527A>G
n.429-7087T>C
 dbSNP ExAC gnomAD v2
6g.112148233T>GCA451606842LAMA4c.2277A>C (p.Leu759=)
c.2256A>C (p.Leu752=)
c.147A>C (p.Leu49=)
c.689A>C
n.2548A>C
n.2527A>C
n.429-7087T>G
6g.112148233T=CA1655234267LAMA4c.2277A= (p.Leu759=)
c.2256A= (p.Leu752=)
c.147A= (p.Leu49=)
c.689A=
n.2548A=
n.2527A=
n.429-7087T=
6g.112148234A>CCA365383568LAMA4c.2276T>G (p.Leu759Arg)
c.2255T>G (p.Leu752Arg)
c.146T>G (p.Leu49Arg)
c.688T>G
n.2547T>G
n.2526T>G
n.429-7086A>C
6g.112148234A>GCA365383569LAMA4c.2276T>C (p.Leu759Pro)
c.2255T>C (p.Leu752Pro)
c.146T>C (p.Leu49Pro)
c.688T>C
n.2547T>C
n.2526T>C
n.429-7086A>G
6g.112148234A>TCA365383570LAMA4c.2276T>A (p.Leu759Gln)
c.2255T>A (p.Leu752Gln)
c.146T>A (p.Leu49Gln)
c.688T>A
n.2547T>A
n.2526T>A
n.429-7086A>T
6g.112148235G>ACA451606843LAMA4c.2275C>T (p.Leu759=)
c.2254C>T (p.Leu752=)
c.145C>T (p.Leu49=)
c.687C>T
n.2546C>T
n.2525C>T
n.429-7085G>A
6g.112148235G>CCA365383571LAMA4c.2275C>G (p.Leu759Val)
c.2254C>G (p.Leu752Val)
c.145C>G (p.Leu49Val)
c.687C>G
n.2546C>G
n.2525C>G
n.429-7085G>C
 gnomAD v4 COSMIC
6g.112148235G>TCA365383572LAMA4c.2275C>A (p.Leu759Ile)
c.2254C>A (p.Leu752Ile)
c.145C>A (p.Leu49Ile)
c.687C>A
n.2546C>A
n.2525C>A
n.429-7085G>T
6g.112148236A=CA1655234268LAMA4c.2274T= (p.Asn758=)
c.2253T= (p.Asn751=)
c.144T= (p.Asn48=)
c.686T=
n.2545T=
n.2524T=
n.429-7084A=
6g.112148236A>CCA365383573LAMA4c.2274T>G (p.Asn758Lys)
c.2253T>G (p.Asn751Lys)
c.144T>G (p.Asn48Lys)
c.686T>G
n.2545T>G
n.2524T>G
n.429-7084A>C
 ClinVar
6g.112148236A>GCA3965519LAMA4c.2274T>C (p.Asn758=)
c.2253T>C (p.Asn751=)
c.144T>C (p.Asn48=)
c.686T>C
n.2545T>C
n.2524T>C
n.429-7084A>G
 dbSNP ExAC
6g.112148236A>TCA365383574LAMA4c.2274T>A (p.Asn758Lys)
c.2253T>A (p.Asn751Lys)
c.144T>A (p.Asn48Lys)
c.686T>A
n.2545T>A
n.2524T>A
n.429-7084A>T
6g.112148237T>ACA365383576LAMA4c.2273A>T (p.Asn758Ile)
c.2252A>T (p.Asn751Ile)
c.143A>T (p.Asn48Ile)
c.685A>T
n.2544A>T
n.2523A>T
n.429-7083T>A
6g.112148237T>CCA3965520LAMA4c.2273A>G (p.Asn758Ser)
c.2252A>G (p.Asn751Ser)
c.143A>G (p.Asn48Ser)
c.685A>G
n.2544A>G
n.2523A>G
n.429-7083T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148237T>GCA365383575LAMA4c.2273A>C (p.Asn758Thr)
c.2252A>C (p.Asn751Thr)
c.143A>C (p.Asn48Thr)
c.685A>C
n.2544A>C
n.2523A>C
n.429-7083T>G
6g.112148237T=CA1655234269LAMA4c.2273A= (p.Asn758=)
c.2252A= (p.Asn751=)
c.143A= (p.Asn48=)
c.685A=
n.2544A=
n.2523A=
n.429-7083T=
6g.112148238T>ACA365383577LAMA4c.2272A>T (p.Asn758Tyr)
c.2251A>T (p.Asn751Tyr)
c.142A>T (p.Asn48Tyr)
c.684A>T
n.2543A>T
n.2522A>T
n.429-7082T>A
6g.112148238T>CCA365383578LAMA4c.2272A>G (p.Asn758Asp)
c.2251A>G (p.Asn751Asp)
c.142A>G (p.Asn48Asp)
c.684A>G
n.2543A>G
n.2522A>G
n.429-7082T>C
6g.112148238T>GCA365383579LAMA4c.2272A>C (p.Asn758His)
c.2251A>C (p.Asn751His)
c.142A>C (p.Asn48His)
c.684A>C
n.2543A>C
n.2522A>C
n.429-7082T>G
6g.112148239G>ACA451606845LAMA4c.2271C>T (p.Asn757=)
c.2250C>T (p.Asn750=)
c.141C>T (p.Asn47=)
c.683C>T
n.2542C>T
n.2521C>T
n.429-7081G>A
6g.112148239G>CCA3965521LAMA4c.2271C>G (p.Asn757Lys)
c.2250C>G (p.Asn750Lys)
c.141C>G (p.Asn47Lys)
c.683C>G
n.2542C>G
n.2521C>G
n.429-7081G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148239G=CA1655234270LAMA4c.2271C= (p.Asn757=)
c.2250C= (p.Asn750=)
c.141C= (p.Asn47=)
c.683C=
n.2542C=
n.2521C=
n.429-7081G=
6g.112148239G>TCA365383580LAMA4c.2271C>A (p.Asn757Lys)
c.2250C>A (p.Asn750Lys)
c.141C>A (p.Asn47Lys)
c.683C>A
n.2542C>A
n.2521C>A
n.429-7081G>T
6g.112148240T>ACA365383581LAMA4c.2270A>T (p.Asn757Ile)
c.2249A>T (p.Asn750Ile)
c.140A>T (p.Asn47Ile)
c.682A>T
n.2541A>T
n.2520A>T
n.429-7080T>A
6g.112148240T>CCA365383582LAMA4c.2270A>G (p.Asn757Ser)
c.2249A>G (p.Asn750Ser)
c.140A>G (p.Asn47Ser)
c.682A>G
n.2541A>G
n.2520A>G
n.429-7080T>C
 ClinVar
6g.112148240T>GCA365383583LAMA4c.2270A>C (p.Asn757Thr)
c.2249A>C (p.Asn750Thr)
c.140A>C (p.Asn47Thr)
c.682A>C
n.2541A>C
n.2520A>C
n.429-7080T>G
6g.112148241T>ACA365383584LAMA4c.2269A>T (p.Asn757Tyr)
c.2248A>T (p.Asn750Tyr)
c.139A>T (p.Asn47Tyr)
c.681A>T
n.2540A>T
n.2519A>T
n.429-7079T>A
6g.112148241T>CCA365383585LAMA4c.2269A>G (p.Asn757Asp)
c.2248A>G (p.Asn750Asp)
c.139A>G (p.Asn47Asp)
c.681A>G
n.2540A>G
n.2519A>G
n.429-7079T>C
6g.112148241T>GCA365383586LAMA4c.2269A>C (p.Asn757His)
c.2248A>C (p.Asn750His)
c.139A>C (p.Asn47His)
c.681A>C
n.2540A>C
n.2519A>C
n.429-7079T>G
6g.112148242G>ACA451606847LAMA4c.2268C>T (p.Ala756=)
c.2247C>T (p.Ala749=)
c.138C>T (p.Ala46=)
c.680C>T
n.2539C>T
n.2518C>T
n.429-7078G>A
6g.112148242G>CCA451606848LAMA4c.2268C>G (p.Ala756=)
c.2247C>G (p.Ala749=)
c.138C>G (p.Ala46=)
c.680C>G
n.2539C>G
n.2518C>G
n.429-7078G>C
6g.112148242G>TCA451606849LAMA4c.2268C>A (p.Ala756=)
c.2247C>A (p.Ala749=)
c.138C>A (p.Ala46=)
c.680C>A
n.2539C>A
n.2518C>A
n.429-7078G>T
6g.112148243delCA2680052675LAMA4c.2268del (p.Asn757ThrfsTer3)
c.2247del (p.Asn750ThrfsTer3)
c.138del (p.Asn47ThrfsTer3)
c.680del
n.2539del
n.2518del
n.429-7077del
 gnomAD v4
6g.112148243G>ACA365383589LAMA4c.2267C>T (p.Ala756Val)
c.2246C>T (p.Ala749Val)
c.137C>T (p.Ala46Val)
c.679C>T
n.2538C>T
n.2517C>T
n.429-7077G>A
 ClinVar dbSNP gnomAD v4
6g.112148243G>CCA365383588LAMA4c.2267C>G (p.Ala756Gly)
c.2246C>G (p.Ala749Gly)
c.137C>G (p.Ala46Gly)
c.679C>G
n.2538C>G
n.2517C>G
n.429-7077G>C
 gnomAD v4
6g.112148243G=CA1655234271LAMA4c.2267C= (p.Ala756=)
c.2246C= (p.Ala749=)
c.137C= (p.Ala46=)
c.679C=
n.2538C=
n.2517C=
n.429-7077G=
6g.112148243G>TCA365383587LAMA4c.2267C>A (p.Ala756Asp)
c.2246C>A (p.Ala749Asp)
c.137C>A (p.Ala46Asp)
c.679C>A
n.2538C>A
n.2517C>A
n.429-7077G>T
6g.112148244C>ACA365383590LAMA4c.2266G>T (p.Ala756Ser)
c.2245G>T (p.Ala749Ser)
c.136G>T (p.Ala46Ser)
c.678G>T
n.2537G>T
n.2516G>T
n.429-7076C>A
6g.112148244C=CA1655234272LAMA4c.2266G= (p.Ala756=)
c.2245G= (p.Ala749=)
c.136G= (p.Ala46=)
c.678G=
n.2537G=
n.2516G=
n.429-7076C=
6g.112148244C>GCA3965522LAMA4c.2266G>C (p.Ala756Pro)
c.2245G>C (p.Ala749Pro)
c.136G>C (p.Ala46Pro)
c.678G>C
n.2537G>C
n.2516G>C
n.429-7076C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148244C>TCA3965523LAMA4c.2266G>A (p.Ala756Thr)
c.2245G>A (p.Ala749Thr)
c.136G>A (p.Ala46Thr)
c.678G>A
n.2537G>A
n.2516G>A
n.429-7076C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148245C>ACA365383591LAMA4c.2265G>T (p.Met755Ile)
c.2244G>T (p.Met748Ile)
c.135G>T (p.Met45Ile)
c.677G>T
n.2536G>T
n.2515G>T
n.429-7075C>A
6g.112148245C=CA1655234273LAMA4c.2265G= (p.Met755=)
c.2244G= (p.Met748=)
c.135G= (p.Met45=)
c.677G=
n.2536G=
n.2515G=
n.429-7075C=
6g.112148245C>GCA365383592LAMA4c.2265G>C (p.Met755Ile)
c.2244G>C (p.Met748Ile)
c.135G>C (p.Met45Ile)
c.677G>C
n.2536G>C
n.2515G>C
n.429-7075C>G
6g.112148245C>TCA365383593LAMA4c.2265G>A (p.Met755Ile)
c.2244G>A (p.Met748Ile)
c.135G>A (p.Met45Ile)
c.677G>A
n.2536G>A
n.2515G>A
n.429-7075C>T
6g.112148246A=CA1655234275LAMA4c.2264T= (p.Met755=)
c.2243T= (p.Met748=)
c.134T= (p.Met45=)
c.676T=
n.2535T=
n.2514T=
n.429-7074A=
6g.112148246A>CCA365383594LAMA4c.2264T>G (p.Met755Arg)
c.2243T>G (p.Met748Arg)
c.134T>G (p.Met45Arg)
c.676T>G
n.2535T>G
n.2514T>G
n.429-7074A>C
6g.112148246A>GCA365383595LAMA4c.2264T>C (p.Met755Thr)
c.2243T>C (p.Met748Thr)
c.134T>C (p.Met45Thr)
c.676T>C
n.2535T>C
n.2514T>C
n.429-7074A>G
 dbSNP gnomAD v3 gnomAD v4
6g.112148246A>TCA365383596LAMA4c.2264T>A (p.Met755Lys)
c.2243T>A (p.Met748Lys)
c.134T>A (p.Met45Lys)
c.676T>A
n.2535T>A
n.2514T>A
n.429-7074A>T
 dbSNP gnomAD v4
6g.112148246dupCA3965524LAMA4c.2264dup (p.Met755IlefsTer16)
c.2243dup (p.Met748IlefsTer16)
c.134dup (p.Met45IlefsTer16)
c.676dup
n.2535dup
n.2514dup
n.429-7074dup
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148246_112148255delinsATGGGGGCAGCA1655234274LAMA4c.2255_2264delinsCTGCCCCCAT (p.Thr752=)
c.2234_2243delinsCTGCCCCCAT (p.Thr745=)
c.125_134delinsCTGCCCCCAT (p.Thr42=)
c.667_676delinsCTGCCCCCAT
n.2526_2535delinsCTGCCCCCAT
n.2505_2514delinsCTGCCCCCAT
n.429-7074_429-7065delinsATGGGGGCAG
6g.112148247T>ACA365383597LAMA4c.2263A>T (p.Met755Leu)
c.2242A>T (p.Met748Leu)
c.133A>T (p.Met45Leu)
c.675A>T
n.2534A>T
n.2513A>T
n.429-7073T>A
6g.112148247T>CCA365383598LAMA4c.2263A>G (p.Met755Val)
c.2242A>G (p.Met748Val)
c.133A>G (p.Met45Val)
c.675A>G
n.2534A>G
n.2513A>G
n.429-7073T>C
 gnomAD v4
6g.112148247T>GCA3965526LAMA4c.2263A>C (p.Met755Leu)
c.2242A>C (p.Met748Leu)
c.133A>C (p.Met45Leu)
c.675A>C
n.2534A>C
n.2513A>C
n.429-7073T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.112148247T=CA1655234276LAMA4c.2263A= (p.Met755=)
c.2242A= (p.Met748=)
c.133A= (p.Met45=)
c.675A=
n.2534A=
n.2513A=
n.429-7073T=
6g.112148250_112148258delCA3965525LAMA4c.2255_2263del (p.Thr752_Pro754del)
c.2234_2242del (p.Thr745_Pro747del)
c.125_133del (p.Thr42_Pro44del)
c.667_675del
n.2526_2534del
n.2505_2513del
n.429-7070_429-7062del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148248G>ACA451606853LAMA4c.2262C>T (p.Pro754=)
c.2241C>T (p.Pro747=)
c.132C>T (p.Pro44=)
c.674C>T
n.2533C>T
n.2512C>T
n.429-7072G>A
6g.112148248G>CCA451606854LAMA4c.2262C>G (p.Pro754=)
c.2241C>G (p.Pro747=)
c.132C>G (p.Pro44=)
c.674C>G
n.2533C>G
n.2512C>G
n.429-7072G>C
6g.112148248G=CA1655234277LAMA4c.2262C= (p.Pro754=)
c.2241C= (p.Pro747=)
c.132C= (p.Pro44=)
c.674C=
n.2533C=
n.2512C=
n.429-7072G=
6g.112148248G>TCA451606855LAMA4c.2262C>A (p.Pro754=)
c.2241C>A (p.Pro747=)
c.132C>A (p.Pro44=)
c.674C>A
n.2533C>A
n.2512C>A
n.429-7072G>T
 dbSNP gnomAD v2 gnomAD v4
6g.112148249G>ACA365383601LAMA4c.2261C>T (p.Pro754Leu)
c.2240C>T (p.Pro747Leu)
c.131C>T (p.Pro44Leu)
c.673C>T
n.2532C>T
n.2511C>T
n.429-7071G>A
6g.112148249G>CCA365383600LAMA4c.2261C>G (p.Pro754Arg)
c.2240C>G (p.Pro747Arg)
c.131C>G (p.Pro44Arg)
c.673C>G
n.2532C>G
n.2511C>G
n.429-7071G>C
6g.112148249G>TCA365383599LAMA4c.2261C>A (p.Pro754His)
c.2240C>A (p.Pro747His)
c.131C>A (p.Pro44His)
c.673C>A
n.2532C>A
n.2511C>A
n.429-7071G>T
6g.112148250G>ACA365383602LAMA4c.2260C>T (p.Pro754Ser)
c.2239C>T (p.Pro747Ser)
c.130C>T (p.Pro44Ser)
c.672C>T
n.2531C>T
n.2510C>T
n.429-7070G>A
6g.112148250G>CCA365383603LAMA4c.2260C>G (p.Pro754Ala)
c.2239C>G (p.Pro747Ala)
c.130C>G (p.Pro44Ala)
c.672C>G
n.2531C>G
n.2510C>G
n.429-7070G>C
 dbSNP
6g.112148250G=CA1655234278LAMA4c.2260C= (p.Pro754=)
c.2239C= (p.Pro747=)
c.130C= (p.Pro44=)
c.672C=
n.2531C=
n.2510C=
n.429-7070G=
6g.112148250G>TCA365383604LAMA4c.2260C>A (p.Pro754Thr)
c.2239C>A (p.Pro747Thr)
c.130C>A (p.Pro44Thr)
c.672C>A
n.2531C>A
n.2510C>A
n.429-7070G>T
6g.112148251G>ACA451606857LAMA4c.2259C>T (p.Ala753=)
c.2238C>T (p.Ala746=)
c.129C>T (p.Ala43=)
c.671C>T
n.2530C>T
n.2509C>T
n.429-7069G>A
6g.112148251G>CCA451606858LAMA4c.2259C>G (p.Ala753=)
c.2238C>G (p.Ala746=)
c.129C>G (p.Ala43=)
c.671C>G
n.2530C>G
n.2509C>G
n.429-7069G>C
6g.112148251G>TCA451606859LAMA4c.2259C>A (p.Ala753=)
c.2238C>A (p.Ala746=)
c.129C>A (p.Ala43=)
c.671C>A
n.2530C>A
n.2509C>A
n.429-7069G>T
6g.112148252G>ACA365383605LAMA4c.2258C>T (p.Ala753Val)
c.2237C>T (p.Ala746Val)
c.128C>T (p.Ala43Val)
c.670C>T
n.2529C>T
n.2508C>T
n.429-7068G>A
 dbSNP
6g.112148252G>CCA365383606LAMA4c.2258C>G (p.Ala753Gly)
c.2237C>G (p.Ala746Gly)
c.128C>G (p.Ala43Gly)
c.670C>G
n.2529C>G
n.2508C>G
n.429-7068G>C
6g.112148252G=CA1655234279LAMA4c.2258C= (p.Ala753=)
c.2237C= (p.Ala746=)
c.128C= (p.Ala43=)
c.670C=
n.2529C=
n.2508C=
n.429-7068G=
6g.112148252G>TCA365383607LAMA4c.2258C>A (p.Ala753Asp)
c.2237C>A (p.Ala746Asp)
c.128C>A (p.Ala43Asp)
c.670C>A
n.2529C>A
n.2508C>A
n.429-7068G>T
6g.112148253C>ACA365383608LAMA4c.2257G>T (p.Ala753Ser)
c.2236G>T (p.Ala746Ser)
c.127G>T (p.Ala43Ser)
c.669G>T
n.2528G>T
n.2507G>T
n.429-7067C>A
6g.112148253C>GCA365383609LAMA4c.2257G>C (p.Ala753Pro)
c.2236G>C (p.Ala746Pro)
c.127G>C (p.Ala43Pro)
c.669G>C
n.2528G>C
n.2507G>C
n.429-7067C>G
6g.112148253C>TCA365383610LAMA4c.2257G>A (p.Ala753Thr)
c.2236G>A (p.Ala746Thr)
c.127G>A (p.Ala43Thr)
c.669G>A
n.2528G>A
n.2507G>A
n.429-7067C>T
 dbSNP
6g.112148254A>CCA451606861LAMA4c.2256T>G (p.Thr752=)
c.2235T>G (p.Thr745=)
c.126T>G (p.Thr42=)
c.668T>G
n.2527T>G
n.2506T>G
n.429-7066A>C
6g.112148254A>GCA451606862LAMA4c.2256T>C (p.Thr752=)
c.2235T>C (p.Thr745=)
c.126T>C (p.Thr42=)
c.668T>C
n.2527T>C
n.2506T>C
n.429-7066A>G
6g.112148254A>TCA451606863LAMA4c.2256T>A (p.Thr752=)
c.2235T>A (p.Thr745=)
c.126T>A (p.Thr42=)
c.668T>A
n.2527T>A
n.2506T>A
n.429-7066A>T
6g.112148255G>ACA365383611LAMA4c.2255C>T (p.Thr752Ile)
c.2234C>T (p.Thr745Ile)
c.125C>T (p.Thr42Ile)
c.667C>T
n.2526C>T
n.2505C>T
n.429-7065G>A
 gnomAD v4
6g.112148255G>CCA365383612LAMA4c.2255C>G (p.Thr752Ser)
c.2234C>G (p.Thr745Ser)
c.125C>G (p.Thr42Ser)
c.667C>G
n.2526C>G
n.2505C>G
n.429-7065G>C
6g.112148255G>TCA365383613LAMA4c.2255C>A (p.Thr752Asn)
c.2234C>A (p.Thr745Asn)
c.125C>A (p.Thr42Asn)
c.667C>A
n.2526C>A
n.2505C>A
n.429-7065G>T
6g.112148256T>ACA365383615LAMA4c.2254A>T (p.Thr752Ser)
c.2233A>T (p.Thr745Ser)
c.124A>T (p.Thr42Ser)
c.666A>T
n.2525A>T
n.2504A>T
n.429-7064T>A
6g.112148256T>CCA365383616LAMA4c.2254A>G (p.Thr752Ala)
c.2233A>G (p.Thr745Ala)
c.124A>G (p.Thr42Ala)
c.666A>G
n.2525A>G
n.2504A>G
n.429-7064T>C
6g.112148256T>GCA365383614LAMA4c.2254A>C (p.Thr752Pro)
c.2233A>C (p.Thr745Pro)
c.124A>C (p.Thr42Pro)
c.666A>C
n.2525A>C
n.2504A>C
n.429-7064T>G
 gnomAD v4
6g.112148257G>ACA451606864LAMA4c.2253C>T (p.Ala751=)
c.2232C>T (p.Ala744=)
c.123C>T (p.Ala41=)
c.665C>T
n.2524C>T
n.2503C>T
n.429-7063G>A
6g.112148257G>CCA451606865LAMA4c.2253C>G (p.Ala751=)
c.2232C>G (p.Ala744=)
c.123C>G (p.Ala41=)
c.665C>G
n.2524C>G
n.2503C>G
n.429-7063G>C
6g.112148257G>TCA451606866LAMA4c.2253C>A (p.Ala751=)
c.2232C>A (p.Ala744=)
c.123C>A (p.Ala41=)
c.665C>A
n.2524C>A
n.2503C>A
n.429-7063G>T
6g.112148258G>ACA365383617LAMA4c.2252C>T (p.Ala751Val)
c.2231C>T (p.Ala744Val)
c.122C>T (p.Ala41Val)
c.664C>T
n.2523C>T
n.2502C>T
n.429-7062G>A
6g.112148258G>CCA365383618LAMA4c.2252C>G (p.Ala751Gly)
c.2231C>G (p.Ala744Gly)
c.122C>G (p.Ala41Gly)
c.664C>G
n.2523C>G
n.2502C>G
n.429-7062G>C
6g.112148258G>TCA365383619LAMA4c.2252C>A (p.Ala751Asp)
c.2231C>A (p.Ala744Asp)
c.122C>A (p.Ala41Asp)
c.664C>A
n.2523C>A
n.2502C>A
n.429-7062G>T
6g.112148259C>ACA365383620LAMA4c.2251G>T (p.Ala751Ser)
c.2230G>T (p.Ala744Ser)
c.121G>T (p.Ala41Ser)
c.663G>T
n.2522G>T
n.2501G>T
n.429-7061C>A
 gnomAD v4
6g.112148259C=CA1655234280LAMA4c.2251G= (p.Ala751=)
c.2230G= (p.Ala744=)
c.121G= (p.Ala41=)
c.663G=
n.2522G=
n.2501G=
n.429-7061C=
6g.112148259C>GCA365383621LAMA4c.2251G>C (p.Ala751Pro)
c.2230G>C (p.Ala744Pro)
c.121G>C (p.Ala41Pro)
c.663G>C
n.2522G>C
n.2501G>C
n.429-7061C>G
6g.112148259C>TCA3965527LAMA4c.2251G>A (p.Ala751Thr)
c.2230G>A (p.Ala744Thr)
c.121G>A (p.Ala41Thr)
c.663G>A
n.2522G>A
n.2501G>A
n.429-7061C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.112148260C>ACA365383622LAMA4c.2250G>T (p.Gln750His)
c.2229G>T (p.Gln743His)
c.120G>T (p.Gln40His)
c.662G>T
n.2521G>T
n.2500G>T
n.429-7060C>A
6g.112148260C=CA1655234281LAMA4c.2250G= (p.Gln750=)
c.2229G= (p.Gln743=)
c.120G= (p.Gln40=)
c.662G=
n.2521G=
n.2500G=
n.429-7060C=
6g.112148260C>GCA365383623LAMA4c.2250G>C (p.Gln750His)
c.2229G>C (p.Gln743His)
c.120G>C (p.Gln40His)
c.662G>C
n.2521G>C
n.2500G>C
n.429-7060C>G
6g.112148260C>TCA325445LAMA4c.2250G>A (p.Gln750=)
c.2229G>A (p.Gln743=)
c.120G>A (p.Gln40=)
c.662G>A
n.2521G>A
n.2500G>A
n.429-7060C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148261T>ACA365383624LAMA4c.2249A>T (p.Gln750Leu)
c.2228A>T (p.Gln743Leu)
c.119A>T (p.Gln40Leu)
c.661A>T
n.2520A>T
n.2499A>T
n.429-7059T>A
6g.112148261T>CCA365383625LAMA4c.2249A>G (p.Gln750Arg)
c.2228A>G (p.Gln743Arg)
c.119A>G (p.Gln40Arg)
c.661A>G
n.2520A>G
n.2499A>G
n.429-7059T>C
6g.112148261T>GCA365383626LAMA4c.2249A>C (p.Gln750Pro)
c.2228A>C (p.Gln743Pro)
c.119A>C (p.Gln40Pro)
c.661A>C
n.2520A>C
n.2499A>C
n.429-7059T>G
6g.112148262G>ACA365383628LAMA4c.2248C>T (p.Gln750Ter)
c.2227C>T (p.Gln743Ter)
c.118C>T (p.Gln40Ter)
c.660C>T
n.2519C>T
n.2498C>T
n.429-7058G>A
6g.112148262G>CCA365383629LAMA4c.2248C>G (p.Gln750Glu)
c.2227C>G (p.Gln743Glu)
c.118C>G (p.Gln40Glu)
c.660C>G
n.2519C>G
n.2498C>G
n.429-7058G>C
6g.112148262G>TCA365383627LAMA4c.2248C>A (p.Gln750Lys)
c.2227C>A (p.Gln743Lys)
c.118C>A (p.Gln40Lys)
c.660C>A
n.2519C>A
n.2498C>A
n.429-7058G>T
6g.112148263C>ACA365383630LAMA4c.2247G>T (p.Gln749His)
c.2226G>T (p.Gln742His)
c.117G>T (p.Gln39His)
c.659G>T
n.2518G>T
n.2497G>T
n.429-7057C>A
6g.112148263C>GCA365383631LAMA4c.2247G>C (p.Gln749His)
c.2226G>C (p.Gln742His)
c.117G>C (p.Gln39His)
c.659G>C
n.2518G>C
n.2497G>C
n.429-7057C>G
6g.112148263C>TCA451606869LAMA4c.2247G>A (p.Gln749=)
c.2226G>A (p.Gln742=)
c.117G>A (p.Gln39=)
c.659G>A
n.2518G>A
n.2497G>A
n.429-7057C>T
6g.112148264T>ACA365383632LAMA4c.2246A>T (p.Gln749Leu)
c.2225A>T (p.Gln742Leu)
c.116A>T (p.Gln39Leu)
c.658A>T
n.2517A>T
n.2496A>T
n.429-7056T>A
6g.112148264T>CCA365383633LAMA4c.2246A>G (p.Gln749Arg)
c.2225A>G (p.Gln742Arg)
c.116A>G (p.Gln39Arg)
c.658A>G
n.2517A>G
n.2496A>G
n.429-7056T>C
6g.112148264T>GCA365383634LAMA4c.2246A>C (p.Gln749Pro)
c.2225A>C (p.Gln742Pro)
c.116A>C (p.Gln39Pro)
c.658A>C
n.2517A>C
n.2496A>C
n.429-7056T>G
6g.112148265G>ACA365383637LAMA4c.2245C>T (p.Gln749Ter)
c.2224C>T (p.Gln742Ter)
c.115C>T (p.Gln39Ter)
c.657C>T
n.2516C>T
n.2495C>T
n.429-7055G>A
6g.112148265G>CCA365383635LAMA4c.2245C>G (p.Gln749Glu)
c.2224C>G (p.Gln742Glu)
c.115C>G (p.Gln39Glu)
c.657C>G
n.2516C>G
n.2495C>G
n.429-7055G>C
6g.112148265G=CA1655234282LAMA4c.2245C= (p.Gln749=)
c.2224C= (p.Gln742=)
c.115C= (p.Gln39=)
c.657C=
n.2516C=
n.2495C=
n.429-7055G=
6g.112148265G>TCA365383636LAMA4c.2245C>A (p.Gln749Lys)
c.2224C>A (p.Gln742Lys)
c.115C>A (p.Gln39Lys)
c.657C>A
n.2516C>A
n.2495C>A
n.429-7055G>T
 dbSNP gnomAD v2 gnomAD v4
6g.112148266C>ACA451606871LAMA4c.2244G>T (p.Val748=)
c.2223G>T (p.Val741=)
c.114G>T (p.Val38=)
c.656G>T
n.2515G>T
n.2494G>T
n.429-7054C>A
6g.112148266C>GCA451606872LAMA4c.2244G>C (p.Val748=)
c.2223G>C (p.Val741=)
c.114G>C (p.Val38=)
c.656G>C
n.2515G>C
n.2494G>C
n.429-7054C>G
6g.112148266C>TCA451606870LAMA4c.2244G>A (p.Val748=)
c.2223G>A (p.Val741=)
c.114G>A (p.Val38=)
c.656G>A
n.2515G>A
n.2494G>A
n.429-7054C>T
6g.112148267A>CCA365383638LAMA4c.2243T>G (p.Val748Gly)
c.2222T>G (p.Val741Gly)
c.113T>G (p.Val38Gly)
c.655T>G
n.2514T>G
n.2493T>G
n.429-7053A>C
 gnomAD v4
6g.112148267A>GCA365383639LAMA4c.2243T>C (p.Val748Ala)
c.2222T>C (p.Val741Ala)
c.113T>C (p.Val38Ala)
c.655T>C
n.2514T>C
n.2493T>C
n.429-7053A>G
6g.112148267A>TCA365383640LAMA4c.2243T>A (p.Val748Glu)
c.2222T>A (p.Val741Glu)
c.113T>A (p.Val38Glu)
c.655T>A
n.2514T>A
n.2493T>A
n.429-7053A>T
6g.112148268C>ACA365383641LAMA4c.2242G>T (p.Val748Leu)
c.2221G>T (p.Val741Leu)
c.112G>T (p.Val38Leu)
c.654G>T
n.2513G>T
n.2492G>T
n.429-7052C>A
6g.112148268C>GCA365383642LAMA4c.2242G>C (p.Val748Leu)
c.2221G>C (p.Val741Leu)
c.112G>C (p.Val38Leu)
c.654G>C
n.2513G>C
n.2492G>C
n.429-7052C>G
6g.112148268C>TCA365383643LAMA4c.2242G>A (p.Val748Met)
c.2221G>A (p.Val741Met)
c.112G>A (p.Val38Met)
c.654G>A
n.2513G>A
n.2492G>A
n.429-7052C>T
6g.112148269C>ACA365383644LAMA4c.2241G>T (p.Glu747Asp)
c.2220G>T (p.Glu740Asp)
c.111G>T (p.Glu37Asp)
c.653G>T
n.2512G>T
n.2491G>T
n.429-7051C>A
6g.112148269C>GCA365383645LAMA4c.2241G>C (p.Glu747Asp)
c.2220G>C (p.Glu740Asp)
c.111G>C (p.Glu37Asp)
c.653G>C
n.2512G>C
n.2491G>C
n.429-7051C>G
6g.112148269C>TCA451606875LAMA4c.2241G>A (p.Glu747=)
c.2220G>A (p.Glu740=)
c.111G>A (p.Glu37=)
c.653G>A
n.2512G>A
n.2491G>A
n.429-7051C>T
6g.112148270T>ACA365383646LAMA4c.2240A>T (p.Glu747Val)
c.2219A>T (p.Glu740Val)
c.110A>T (p.Glu37Val)
c.652A>T
n.2511A>T
n.2490A>T
n.429-7050T>A
6g.112148270T>CCA365383648LAMA4c.2240A>G (p.Glu747Gly)
c.2219A>G (p.Glu740Gly)
c.110A>G (p.Glu37Gly)
c.652A>G
n.2511A>G
n.2490A>G
n.429-7050T>C
6g.112148270T>GCA365383647LAMA4c.2240A>C (p.Glu747Ala)
c.2219A>C (p.Glu740Ala)
c.110A>C (p.Glu37Ala)
c.652A>C
n.2511A>C
n.2490A>C
n.429-7050T>G
6g.112148271C>ACA365383649LAMA4c.2239G>T (p.Glu747Ter)
c.2218G>T (p.Glu740Ter)
c.109G>T (p.Glu37Ter)
c.651G>T
n.2510G>T
n.2489G>T
n.429-7049C>A
6g.112148271C>GCA365383651LAMA4c.2239G>C (p.Glu747Gln)
c.2218G>C (p.Glu740Gln)
c.109G>C (p.Glu37Gln)
c.651G>C
n.2510G>C
n.2489G>C
n.429-7049C>G
6g.112148271C>TCA365383650LAMA4c.2239G>A (p.Glu747Lys)
c.2218G>A (p.Glu740Lys)
c.109G>A (p.Glu37Lys)
c.651G>A
n.2510G>A
n.2489G>A
n.429-7049C>T
6g.112148272C>ACA365383652LAMA4c.2238G>T (p.Met746Ile)
c.2217G>T (p.Met739Ile)
c.108G>T (p.Met36Ile)
c.650G>T
n.2509G>T
n.2488G>T
n.429-7048C>A
6g.112148272C>GCA365383653LAMA4c.2238G>C (p.Met746Ile)
c.2217G>C (p.Met739Ile)
c.108G>C (p.Met36Ile)
c.650G>C
n.2509G>C
n.2488G>C
n.429-7048C>G
6g.112148272C>TCA365383654LAMA4c.2238G>A (p.Met746Ile)
c.2217G>A (p.Met739Ile)
c.108G>A (p.Met36Ile)
c.650G>A
n.2509G>A
n.2488G>A
n.429-7048C>T
6g.112148273_112148275delCA913109403LAMA4c.2236_2238del (p.Met746del)
c.2215_2217del (p.Met739del)
c.106_108del (p.Met36del)
c.648_650del
n.2507_2509del
n.2486_2488del
n.429-7047_429-7045del
6g.112148273A>CCA365383655LAMA4c.2237T>G (p.Met746Arg)
c.2216T>G (p.Met739Arg)
c.107T>G (p.Met36Arg)
c.649T>G
n.2508T>G
n.2487T>G
n.429-7047A>C
6g.112148273A>GCA365383656LAMA4c.2237T>C (p.Met746Thr)
c.2216T>C (p.Met739Thr)
c.107T>C (p.Met36Thr)
c.649T>C
n.2508T>C
n.2487T>C
n.429-7047A>G
 ClinVar
6g.112148273A>TCA365383657LAMA4c.2237T>A (p.Met746Lys)
c.2216T>A (p.Met739Lys)
c.107T>A (p.Met36Lys)
c.649T>A
n.2508T>A
n.2487T>A
n.429-7047A>T
6g.112148274T>ACA365383658LAMA4c.2236A>T (p.Met746Leu)
c.2215A>T (p.Met739Leu)
c.106A>T (p.Met36Leu)
c.648A>T
n.2507A>T
n.2486A>T
n.429-7046T>A
6g.112148274T>CCA365383659LAMA4c.2236A>G (p.Met746Val)
c.2215A>G (p.Met739Val)
c.106A>G (p.Met36Val)
c.648A>G
n.2507A>G
n.2486A>G
n.429-7046T>C
6g.112148274T>GCA365383660LAMA4c.2236A>C (p.Met746Leu)
c.2215A>C (p.Met739Leu)
c.106A>C (p.Met36Leu)
c.648A>C
n.2507A>C
n.2486A>C
n.429-7046T>G
6g.112148275C>ACA451606877LAMA4c.2235G>T (p.Thr745=)
c.2214G>T (p.Thr738=)
c.105G>T (p.Thr35=)
c.647G>T
n.2506G>T
n.2485G>T
n.429-7045C>A
 dbSNP gnomAD v2 gnomAD v4
6g.112148275C=CA1655234283LAMA4c.2235G= (p.Thr745=)
c.2214G= (p.Thr738=)
c.105G= (p.Thr35=)
c.647G=
n.2506G=
n.2485G=
n.429-7045C=
6g.112148275C>GCA451606878LAMA4c.2235G>C (p.Thr745=)
c.2214G>C (p.Thr738=)
c.105G>C (p.Thr35=)
c.647G>C
n.2506G>C
n.2485G>C
n.429-7045C>G
6g.112148275C>TCA451606879LAMA4c.2235G>A (p.Thr745=)
c.2214G>A (p.Thr738=)
c.105G>A (p.Thr35=)
c.647G>A
n.2506G>A
n.2485G>A
n.429-7045C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.112148276G>ACA365383661LAMA4c.2234C>T (p.Thr745Met)
c.2213C>T (p.Thr738Met)
c.104C>T (p.Thr35Met)
c.646C>T
n.2505C>T
n.2484C>T
n.429-7044G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.112148276G>CCA365383662LAMA4c.2234C>G (p.Thr745Arg)
c.2213C>G (p.Thr738Arg)
c.104C>G (p.Thr35Arg)
c.646C>G
n.2505C>G
n.2484C>G
n.429-7044G>C
6g.112148276G=CA1655234284LAMA4c.2234C= (p.Thr745=)
c.2213C= (p.Thr738=)
c.104C= (p.Thr35=)
c.646C=
n.2505C=
n.2484C=
n.429-7044G=
6g.112148276G>TCA365383663LAMA4c.2234C>A (p.Thr745Lys)
c.2213C>A (p.Thr738Lys)
c.104C>A (p.Thr35Lys)
c.646C>A
n.2505C>A
n.2484C>A
n.429-7044G>T
6g.112148277T>ACA365383666LAMA4c.2233A>T (p.Thr745Ser)
c.2212A>T (p.Thr738Ser)
c.103A>T (p.Thr35Ser)
c.645A>T
n.2504A>T
n.2483A>T
n.429-7043T>A
6g.112148277T>CCA365383665LAMA4c.2233A>G (p.Thr745Ala)
c.2212A>G (p.Thr738Ala)
c.103A>G (p.Thr35Ala)
c.645A>G
n.2504A>G
n.2483A>G
n.429-7043T>C
 ClinVar
6g.112148277T>GCA365383664LAMA4c.2233A>C (p.Thr745Pro)
c.2212A>C (p.Thr738Pro)
c.103A>C (p.Thr35Pro)
c.645A>C
n.2504A>C
n.2483A>C
n.429-7043T>G
6g.112148278C>ACA451606881LAMA4c.2232G>T (p.Thr744=)
c.2211G>T (p.Thr737=)
c.102G>T (p.Thr34=)
c.644G>T
n.2503G>T
n.2482G>T
n.429-7042C>A
6g.112148278C=CA1655234285LAMA4c.2232G= (p.Thr744=)
c.2211G= (p.Thr737=)
c.102G= (p.Thr34=)
c.644G=
n.2503G=
n.2482G=
n.429-7042C=
6g.112148278C>GCA3965529LAMA4c.2232G>C (p.Thr744=)
c.2211G>C (p.Thr737=)
c.102G>C (p.Thr34=)
c.644G>C
n.2503G>C
n.2482G>C
n.429-7042C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.112148278C>TCA3965528LAMA4c.2232G>A (p.Thr744=)
c.2211G>A (p.Thr737=)
c.102G>A (p.Thr34=)
c.644G>A
n.2503G>A
n.2482G>A
n.429-7042C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148279G>ACA3965531LAMA4c.2231C>T (p.Thr744Met)
c.2210C>T (p.Thr737Met)
c.101C>T (p.Thr34Met)
c.643C>T
n.2502C>T
n.2481C>T
n.429-7041G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148279G>CCA365383667LAMA4c.2231C>G (p.Thr744Arg)
c.2210C>G (p.Thr737Arg)
c.101C>G (p.Thr34Arg)
c.643C>G
n.2502C>G
n.2481C>G
n.429-7041G>C
6g.112148279G=CA1655234286LAMA4c.2231C= (p.Thr744=)
c.2210C= (p.Thr737=)
c.101C= (p.Thr34=)
c.643C=
n.2502C=
n.2481C=
n.429-7041G=
6g.112148279G>TCA3965530LAMA4c.2231C>A (p.Thr744Lys)
c.2210C>A (p.Thr737Lys)
c.101C>A (p.Thr34Lys)
c.643C>A
n.2502C>A
n.2481C>A
n.429-7041G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148280T>ACA365383668LAMA4c.2230A>T (p.Thr744Ser)
c.2209A>T (p.Thr737Ser)
c.100A>T (p.Thr34Ser)
c.642A>T
n.2501A>T
n.2480A>T
n.429-7040T>A
6g.112148280T>CCA365383669LAMA4c.2230A>G (p.Thr744Ala)
c.2209A>G (p.Thr737Ala)
c.100A>G (p.Thr34Ala)
c.642A>G
n.2501A>G
n.2480A>G
n.429-7040T>C
6g.112148280T>GCA365383670LAMA4c.2230A>C (p.Thr744Pro)
c.2209A>C (p.Thr737Pro)
c.100A>C (p.Thr34Pro)
c.642A>C
n.2501A>C
n.2480A>C
n.429-7040T>G
6g.112148281C>ACA365383671LAMA4c.2229G>T (p.Arg743Ser)
c.2208G>T (p.Arg736Ser)
c.99G>T (p.Arg33Ser)
c.641G>T
n.2500G>T
n.2479G>T
n.429-7039C>A
6g.112148281C>GCA365383672LAMA4c.2229G>C (p.Arg743Ser)
c.2208G>C (p.Arg736Ser)
c.99G>C (p.Arg33Ser)
c.641G>C
n.2500G>C
n.2479G>C
n.429-7039C>G
6g.112148281C>TCA451606883LAMA4c.2229G>A (p.Arg743=)
c.2208G>A (p.Arg736=)
c.99G>A (p.Arg33=)
c.641G>A
n.2500G>A
n.2479G>A
n.429-7039C>T
6g.112148282C>ACA365383673LAMA4c.2228G>T (p.Arg743Met)
c.2207G>T (p.Arg736Met)
c.98G>T (p.Arg33Met)
c.640G>T
n.2499G>T
n.2478G>T
n.429-7038C>A
6g.112148282C>GCA365383674LAMA4c.2228G>C (p.Arg743Thr)
c.2207G>C (p.Arg736Thr)
c.98G>C (p.Arg33Thr)
c.640G>C
n.2499G>C
n.2478G>C
n.429-7038C>G
6g.112148282C>TCA365383675LAMA4c.2228G>A (p.Arg743Lys)
c.2207G>A (p.Arg736Lys)
c.98G>A (p.Arg33Lys)
c.640G>A
n.2499G>A
n.2478G>A
n.429-7038C>T
 gnomAD v4
6g.112148283T>ACA365383676LAMA4c.2227A>T (p.Arg743Trp)
c.2206A>T (p.Arg736Trp)
c.97A>T (p.Arg33Trp)
c.639A>T
n.2498A>T
n.2477A>T
n.429-7037T>A
6g.112148283T>CCA365383677LAMA4c.2227A>G (p.Arg743Gly)
c.2206A>G (p.Arg736Gly)
c.97A>G (p.Arg33Gly)
c.639A>G
n.2498A>G
n.2477A>G
n.429-7037T>C
6g.112148283T>GCA451606887LAMA4c.2227A>C (p.Arg743=)
c.2206A>C (p.Arg736=)
c.97A>C (p.Arg33=)
c.639A>C
n.2498A>C
n.2477A>C
n.429-7037T>G
6g.112148284G>ACA3965532LAMA4c.2226C>T (p.Asn742=)
c.2205C>T (p.Asn735=)
c.96C>T (p.Asn32=)
c.638C>T
n.2497C>T
n.2476C>T
n.429-7036G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148284G>CCA365383678LAMA4c.2226C>G (p.Asn742Lys)
c.2205C>G (p.Asn735Lys)
c.96C>G (p.Asn32Lys)
c.638C>G
n.2497C>G
n.2476C>G
n.429-7036G>C
6g.112148284G=CA1655234287LAMA4c.2226C= (p.Asn742=)
c.2205C= (p.Asn735=)
c.96C= (p.Asn32=)
c.638C=
n.2497C=
n.2476C=
n.429-7036G=
6g.112148284G>TCA365383679LAMA4c.2226C>A (p.Asn742Lys)
c.2205C>A (p.Asn735Lys)
c.96C>A (p.Asn32Lys)
c.638C>A
n.2497C>A
n.2476C>A
n.429-7036G>T
6g.112148285T>ACA365383680LAMA4c.2225A>T (p.Asn742Ile)
c.2204A>T (p.Asn735Ile)
c.95A>T (p.Asn32Ile)
c.637A>T
n.2496A>T
n.2475A>T
n.429-7035T>A
6g.112148285T>CCA181287LAMA4c.2225A>G (p.Asn742Ser)
c.2204A>G (p.Asn735Ser)
c.95A>G (p.Asn32Ser)
c.637A>G
n.2496A>G
n.2475A>G
n.429-7035T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148285T>GCA365383681LAMA4c.2225A>C (p.Asn742Thr)
c.2204A>C (p.Asn735Thr)
c.95A>C (p.Asn32Thr)
c.637A>C
n.2496A>C
n.2475A>C
n.429-7035T>G
6g.112148285T=CA1655234288LAMA4c.2225A= (p.Asn742=)
c.2204A= (p.Asn735=)
c.95A= (p.Asn32=)
c.637A=
n.2496A=
n.2475A=
n.429-7035T=
6g.112148286T>ACA365383682LAMA4c.2224A>T (p.Asn742Tyr)
c.2203A>T (p.Asn735Tyr)
c.94A>T (p.Asn32Tyr)
c.636A>T
n.2495A>T
n.2474A>T
n.429-7034T>A
6g.112148286T>CCA365383683LAMA4c.2224A>G (p.Asn742Asp)
c.2203A>G (p.Asn735Asp)
c.94A>G (p.Asn32Asp)
c.636A>G
n.2495A>G
n.2474A>G
n.429-7034T>C
6g.112148286T>GCA365383684LAMA4c.2224A>C (p.Asn742His)
c.2203A>C (p.Asn735His)
c.94A>C (p.Asn32His)
c.636A>C
n.2495A>C
n.2474A>C
n.429-7034T>G
6g.112148287G>ACA451606892LAMA4c.2223C>T (p.Ala741=)
c.2202C>T (p.Ala734=)
c.93C>T (p.Ala31=)
c.635C>T
n.2494C>T
n.2473C>T
n.429-7033G>A
6g.112148287G>CCA451606893LAMA4c.2223C>G (p.Ala741=)
c.2202C>G (p.Ala734=)
c.93C>G (p.Ala31=)
c.635C>G
n.2494C>G
n.2473C>G
n.429-7033G>C
6g.112148287G>TCA451606891LAMA4c.2223C>A (p.Ala741=)
c.2202C>A (p.Ala734=)
c.93C>A (p.Ala31=)
c.635C>A
n.2494C>A
n.2473C>A
n.429-7033G>T
6g.112148288G>ACA365383685LAMA4c.2222C>T (p.Ala741Val)
c.2201C>T (p.Ala734Val)
c.92C>T (p.Ala31Val)
c.634C>T
n.2493C>T
n.2472C>T
n.429-7032G>A
6g.112148288G>CCA144897478LAMA4c.2222C>G (p.Ala741Gly)
c.2201C>G (p.Ala734Gly)
c.92C>G (p.Ala31Gly)
c.634C>G
n.2493C>G
n.2472C>G
n.429-7032G>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.112148288G=CA1655234289LAMA4c.2222C= (p.Ala741=)
c.2201C= (p.Ala734=)
c.92C= (p.Ala31=)
c.634C=
n.2493C=
n.2472C=
n.429-7032G=
6g.112148288G>TCA365383686LAMA4c.2222C>A (p.Ala741Asp)
c.2201C>A (p.Ala734Asp)
c.92C>A (p.Ala31Asp)
c.634C>A
n.2493C>A
n.2472C>A
n.429-7032G>T
 gnomAD v4
6g.112148289C>ACA365383688LAMA4c.2221G>T (p.Ala741Ser)
c.2200G>T (p.Ala734Ser)
c.91G>T (p.Ala31Ser)
c.633G>T
n.2492G>T
n.2471G>T
n.429-7031C>A
 gnomAD v4
6g.112148289C>GCA365383689LAMA4c.2221G>C (p.Ala741Pro)
c.2200G>C (p.Ala734Pro)
c.91G>C (p.Ala31Pro)
c.633G>C
n.2492G>C
n.2471G>C
n.429-7031C>G
6g.112148289C>TCA365383687LAMA4c.2221G>A (p.Ala741Thr)
c.2200G>A (p.Ala734Thr)
c.91G>A (p.Ala31Thr)
c.633G>A
n.2492G>A
n.2471G>A
n.429-7031C>T
 gnomAD v4
6g.112148290T>ACA365383690LAMA4c.2220A>T (p.Glu740Asp)
c.2199A>T (p.Glu733Asp)
c.90A>T (p.Glu30Asp)
c.632A>T
n.2491A>T
n.2470A>T
n.429-7030T>A
6g.112148290T>CCA451606894LAMA4c.2220A>G (p.Glu740=)
c.2199A>G (p.Glu733=)
c.90A>G (p.Glu30=)
c.632A>G
n.2491A>G
n.2470A>G
n.429-7030T>C
6g.112148290T>GCA365383691LAMA4c.2220A>C (p.Glu740Asp)
c.2199A>C (p.Glu733Asp)
c.90A>C (p.Glu30Asp)
c.632A>C
n.2491A>C
n.2470A>C
n.429-7030T>G
6g.112148291T>ACA365383692LAMA4c.2219A>T (p.Glu740Val)
c.2198A>T (p.Glu733Val)
c.89A>T (p.Glu30Val)
c.631A>T
n.2490A>T
n.2469A>T
n.429-7029T>A
6g.112148291T>CCA365383693LAMA4c.2219A>G (p.Glu740Gly)
c.2198A>G (p.Glu733Gly)
c.89A>G (p.Glu30Gly)
c.631A>G
n.2490A>G
n.2469A>G
n.429-7029T>C
6g.112148291T>GCA365383694LAMA4c.2219A>C (p.Glu740Ala)
c.2198A>C (p.Glu733Ala)
c.89A>C (p.Glu30Ala)
c.631A>C
n.2490A>C
n.2469A>C
n.429-7029T>G
6g.112148292C>ACA365383697LAMA4c.2218G>T (p.Glu740Ter)
c.2197G>T (p.Glu733Ter)
c.88G>T (p.Glu30Ter)
c.630G>T
n.2489G>T
n.2468G>T
n.429-7028C>A
 dbSNP gnomAD v2 gnomAD v4
6g.112148292C=CA1655234290LAMA4c.2218G= (p.Glu740=)
c.2197G= (p.Glu733=)
c.88G= (p.Glu30=)
c.630G=
n.2489G=
n.2468G=
n.429-7028C=
6g.112148292C>GCA365383695LAMA4c.2218G>C (p.Glu740Gln)
c.2197G>C (p.Glu733Gln)
c.88G>C (p.Glu30Gln)
c.630G>C
n.2489G>C
n.2468G>C
n.429-7028C>G
6g.112148292C>TCA365383696LAMA4c.2218G>A (p.Glu740Lys)
c.2197G>A (p.Glu733Lys)
c.88G>A (p.Glu30Lys)
c.630G>A
n.2489G>A
n.2468G>A
n.429-7028C>T
6g.112148292_112148293insATTTGGGTCA451606898LAMA4c.2217_2218insACCCAAAT (p.Glu740ThrfsTer23)
c.2196_2197insACCCAAAT (p.Glu733ThrfsTer23)
c.87_88insACCCAAAT (p.Glu30ThrfsTer23)
c.629_630insACCCAAAT
n.2488_2489insACCCAAAT
n.2467_2468insACCCAAAT
n.429-7028_429-7027insATTTGGGT
6g.112148293C>ACA365383698LAMA4c.2217G>T (p.Glu739Asp)
c.2196G>T (p.Glu732Asp)
c.87G>T (p.Glu29Asp)
c.629G>T
n.2488G>T
n.2467G>T
n.429-7027C>A
6g.112148293C>GCA365383699LAMA4c.2217G>C (p.Glu739Asp)
c.2196G>C (p.Glu732Asp)
c.87G>C (p.Glu29Asp)
c.629G>C
n.2488G>C
n.2467G>C
n.429-7027C>G
6g.112148293C>TCA451606899LAMA4c.2217G>A (p.Glu739=)
c.2196G>A (p.Glu732=)
c.87G>A (p.Glu29=)
c.629G>A
n.2488G>A
n.2467G>A
n.429-7027C>T
6g.112148294T>ACA365383700LAMA4c.2216A>T (p.Glu739Val)
c.2195A>T (p.Glu732Val)
c.86A>T (p.Glu29Val)
c.628A>T
n.2487A>T
n.2466A>T
n.429-7026T>A
6g.112148294T>CCA365383701LAMA4c.2216A>G (p.Glu739Gly)
c.2195A>G (p.Glu732Gly)
c.86A>G (p.Glu29Gly)
c.628A>G
n.2487A>G
n.2466A>G
n.429-7026T>C
6g.112148294T>GCA365383702LAMA4c.2216A>C (p.Glu739Ala)
c.2195A>C (p.Glu732Ala)
c.86A>C (p.Glu29Ala)
c.628A>C
n.2487A>C
n.2466A>C
n.429-7026T>G
6g.112148295C>ACA365383703LAMA4c.2215G>T (p.Glu739Ter)
c.2194G>T (p.Glu732Ter)
c.85G>T (p.Glu29Ter)
c.627G>T
n.2486G>T
n.2465G>T
n.429-7025C>A
6g.112148295C=CA1655234291LAMA4c.2215G= (p.Glu739=)
c.2194G= (p.Glu732=)
c.85G= (p.Glu29=)
c.627G=
n.2486G=
n.2465G=
n.429-7025C=
6g.112148295C>GCA365383704LAMA4c.2215G>C (p.Glu739Gln)
c.2194G>C (p.Glu732Gln)
c.85G>C (p.Glu29Gln)
c.627G>C
n.2486G>C
n.2465G>C
n.429-7025C>G
 dbSNP gnomAD v2 gnomAD v4
6g.112148295C>TCA184626LAMA4c.2215G>A (p.Glu739Lys)
c.2194G>A (p.Glu732Lys)
c.85G>A (p.Glu29Lys)
c.627G>A
n.2486G>A
n.2465G>A
n.429-7025C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148296G>ACA3965533LAMA4c.2214C>T (p.Thr738=)
c.2193C>T (p.Thr731=)
c.84C>T (p.Thr28=)
c.626C>T
n.2485C>T
n.2464C>T
n.429-7024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.112148296G>CCA451606901LAMA4c.2214C>G (p.Thr738=)
c.2193C>G (p.Thr731=)
c.84C>G (p.Thr28=)
c.626C>G
n.2485C>G
n.2464C>G
n.429-7024G>C
6g.112148296G=CA1655234292LAMA4c.2214C= (p.Thr738=)
c.2193C= (p.Thr731=)
c.84C= (p.Thr28=)
c.626C=
n.2485C=
n.2464C=
n.429-7024G=
6g.112148296G>TCA451606902LAMA4c.2214C>A (p.Thr738=)
c.2193C>A (p.Thr731=)
c.84C>A (p.Thr28=)
c.626C>A
n.2485C>A
n.2464C>A
n.429-7024G>T
6g.112148297G>ACA144897489LAMA4c.2213C>T (p.Thr738Ile)
c.2192C>T (p.Thr731Ile)
c.83C>T (p.Thr28Ile)
c.625C>T
n.2484C>T
n.2463C>T
n.429-7023G>A
 dbSNP gnomAD v4 COSMIC
6g.112148297G>CCA365383705LAMA4c.2213C>G (p.Thr738Ser)
c.2192C>G (p.Thr731Ser)
c.83C>G (p.Thr28Ser)
c.625C>G
n.2484C>G
n.2463C>G
n.429-7023G>C
6g.112148297G=CA1655234293LAMA4c.2213C= (p.Thr738=)
c.2192C= (p.Thr731=)
c.83C= (p.Thr28=)
c.625C=
n.2484C=
n.2463C=
n.429-7023G=
6g.112148297G>TCA365383706LAMA4c.2213C>A (p.Thr738Asn)
c.2192C>A (p.Thr731Asn)
c.83C>A (p.Thr28Asn)
c.625C>A
n.2484C>A
n.2463C>A
n.429-7023G>T
6g.112148298T>ACA365383707LAMA4c.2212A>T (p.Thr738Ser)
c.2191A>T (p.Thr731Ser)
c.82A>T (p.Thr28Ser)
c.624A>T
n.2483A>T
n.2462A>T
n.429-7022T>A
 dbSNP gnomAD v3 gnomAD v4
6g.112148298T>CCA365383708LAMA4c.2212A>G (p.Thr738Ala)
c.2191A>G (p.Thr731Ala)
c.82A>G (p.Thr28Ala)
c.624A>G
n.2483A>G
n.2462A>G
n.429-7022T>C
 dbSNP gnomAD v2 gnomAD v4
6g.112148298T>GCA365383709LAMA4c.2212A>C (p.Thr738Pro)
c.2191A>C (p.Thr731Pro)
c.82A>C (p.Thr28Pro)
c.624A>C
n.2483A>C
n.2462A>C
n.429-7022T>G
6g.112148298T=CA1655234294LAMA4c.2212A= (p.Thr738=)
c.2191A= (p.Thr731=)
c.82A= (p.Thr28=)
c.624A=
n.2483A=
n.2462A=
n.429-7022T=
6g.112148299G>ACA451606903LAMA4c.2211C>T (p.Ile737=)
c.2190C>T (p.Ile730=)
c.81C>T (p.Ile27=)
c.623C>T
n.2482C>T
n.2461C>T
n.429-7021G>A
6g.112148299G>CCA365383710LAMA4c.2211C>G (p.Ile737Met)
c.2190C>G (p.Ile730Met)
c.81C>G (p.Ile27Met)
c.623C>G
n.2482C>G
n.2461C>G
n.429-7021G>C
 dbSNP gnomAD v2 gnomAD v4
6g.112148299G=CA1655234295LAMA4c.2211C= (p.Ile737=)
c.2190C= (p.Ile730=)
c.81C= (p.Ile27=)
c.623C=
n.2482C=
n.2461C=
n.429-7021G=
6g.112148299G>TCA451606904LAMA4c.2211C>A (p.Ile737=)
c.2190C>A (p.Ile730=)
c.81C>A (p.Ile27=)
c.623C>A
n.2482C>A
n.2461C>A
n.429-7021G>T
 gnomAD v4
6g.112148300A>CCA365383711LAMA4c.2210T>G (p.Ile737Ser)
c.2189T>G (p.Ile730Ser)
c.80T>G (p.Ile27Ser)
c.622T>G
n.2481T>G
n.2460T>G
n.429-7020A>C
6g.112148300A>GCA365383712LAMA4c.2210T>C (p.Ile737Thr)
c.2189T>C (p.Ile730Thr)
c.80T>C (p.Ile27Thr)
c.622T>C
n.2481T>C
n.2460T>C
n.429-7020A>G
6g.112148300A>TCA365383713LAMA4c.2210T>A (p.Ile737Asn)
c.2189T>A (p.Ile730Asn)
c.80T>A (p.Ile27Asn)
c.622T>A
n.2481T>A
n.2460T>A
n.429-7020A>T
6g.112148301T>ACA365383714LAMA4c.2209A>T (p.Ile737Phe)
c.2188A>T (p.Ile730Phe)
c.79A>T (p.Ile27Phe)
c.621A>T
n.2480A>T
n.2459A>T
n.429-7019T>A
 dbSNP gnomAD v2 gnomAD v4
6g.112148301T>CCA365383715LAMA4c.2209A>G (p.Ile737Val)
c.2188A>G (p.Ile730Val)
c.79A>G (p.Ile27Val)
c.621A>G
n.2480A>G
n.2459A>G
n.429-7019T>C
6g.112148301T>GCA365383716LAMA4c.2209A>C (p.Ile737Leu)
c.2188A>C (p.Ile730Leu)
c.79A>C (p.Ile27Leu)
c.621A>C
n.2480A>C
n.2459A>C
n.429-7019T>G
6g.112148301T=CA1655234296LAMA4c.2209A= (p.Ile737=)
c.2188A= (p.Ile730=)
c.79A= (p.Ile27=)
c.621A=
n.2480A=
n.2459A=
n.429-7019T=
6g.112148302C>ACA451606908LAMA4c.2208G>T (p.Leu736=)
c.2187G>T (p.Leu729=)
c.78G>T (p.Leu26=)
c.620G>T
n.2479G>T
n.2458G>T
n.429-7018C>A
6g.112148302C>GCA451606909LAMA4c.2208G>C (p.Leu736=)
c.2187G>C (p.Leu729=)
c.78G>C (p.Leu26=)
c.620G>C
n.2479G>C
n.2458G>C
n.429-7018C>G
6g.112148302C>TCA451606910LAMA4c.2208G>A (p.Leu736=)
c.2187G>A (p.Leu729=)
c.78G>A (p.Leu26=)
c.620G>A
n.2479G>A
n.2458G>A
n.429-7018C>T
6g.112148303A>CCA365383719LAMA4c.2207T>G (p.Leu736Arg)
c.2186T>G (p.Leu729Arg)
c.77T>G (p.Leu26Arg)
c.619T>G
n.2478T>G
n.2457T>G
n.429-7017A>C
6g.112148303A>GCA365383717LAMA4c.2207T>C (p.Leu736Pro)
c.2186T>C (p.Leu729Pro)
c.77T>C (p.Leu26Pro)
c.619T>C
n.2478T>C
n.2457T>C
n.429-7017A>G
 ClinVar
6g.112148303A>TCA365383718LAMA4c.2207T>A (p.Leu736Gln)
c.2186T>A (p.Leu729Gln)
c.77T>A (p.Leu26Gln)
c.619T>A
n.2478T>A
n.2457T>A
n.429-7017A>T
6g.112148304G>ACA451606911LAMA4c.2206C>T (p.Leu736=)
c.2185C>T (p.Leu729=)
c.76C>T (p.Leu26=)
c.618C>T
n.2477C>T
n.2456C>T
n.429-7016G>A
 ClinVar
6g.112148304G>CCA365383720LAMA4c.2206C>G (p.Leu736Val)
c.2185C>G (p.Leu729Val)
c.76C>G (p.Leu26Val)
c.618C>G
n.2477C>G
n.2456C>G
n.429-7016G>C
6g.112148304G>TCA365383721LAMA4c.2206C>A (p.Leu736Met)
c.2185C>A (p.Leu729Met)
c.76C>A (p.Leu26Met)
c.618C>A
n.2477C>A
n.2456C>A
n.429-7016G>T
6g.112148305T>ACA365383722LAMA4c.2205A>T (p.Arg735Ser)
c.2184A>T (p.Arg728Ser)
c.75A>T (p.Arg25Ser)
c.617A>T
n.2476A>T
n.2455A>T
n.429-7015T>A
 gnomAD v4
6g.112148305T>CCA451606914LAMA4c.2205A>G (p.Arg735=)
c.2184A>G (p.Arg728=)
c.75A>G (p.Arg25=)
c.617A>G
n.2476A>G
n.2455A>G
n.429-7015T>C
 gnomAD v4
6g.112148305T>GCA365383723LAMA4c.2205A>C (p.Arg735Ser)
c.2184A>C (p.Arg728Ser)
c.75A>C (p.Arg25Ser)
c.617A>C
n.2476A>C
n.2455A>C
n.429-7015T>G

Number of alleles fetched