Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23949877T>ACA402051753LAMA3c.4637T>A (p.Leu1546Ter)
c.9464T>A (p.Leu3155Ter)
c.6059T>A (p.Leu2020Ter)
c.9296T>A (p.Leu3099Ter)
c.4469T>A (p.Leu1490Ter)
n.4042T>A
c.9491T>A (p.Leu3164Ter)
c.9482T>A (p.Leu3161Ter)
c.9473T>A (p.Leu3158Ter)
c.9359T>A (p.Leu3120Ter)
c.9194T>A (p.Leu3065Ter)
c.7343T>A (p.Leu2448Ter)
c.5033T>A (p.Leu1678Ter)
n.9732T>A
18g.23949877T>CCA402051754LAMA3c.4637T>C (p.Leu1546Ser)
c.9464T>C (p.Leu3155Ser)
c.6059T>C (p.Leu2020Ser)
c.9296T>C (p.Leu3099Ser)
c.4469T>C (p.Leu1490Ser)
n.4042T>C
c.9491T>C (p.Leu3164Ser)
c.9482T>C (p.Leu3161Ser)
c.9473T>C (p.Leu3158Ser)
c.9359T>C (p.Leu3120Ser)
c.9194T>C (p.Leu3065Ser)
c.7343T>C (p.Leu2448Ser)
c.5033T>C (p.Leu1678Ser)
n.9732T>C
 dbSNP
18g.23949877T>GCA402051755LAMA3c.4637T>G (p.Leu1546Trp)
c.9464T>G (p.Leu3155Trp)
c.6059T>G (p.Leu2020Trp)
c.9296T>G (p.Leu3099Trp)
c.4469T>G (p.Leu1490Trp)
n.4042T>G
c.9491T>G (p.Leu3164Trp)
c.9482T>G (p.Leu3161Trp)
c.9473T>G (p.Leu3158Trp)
c.9359T>G (p.Leu3120Trp)
c.9194T>G (p.Leu3065Trp)
c.7343T>G (p.Leu2448Trp)
c.5033T>G (p.Leu1678Trp)
n.9732T>G
18g.23949877T=CA2290343832LAMA3c.4637T= (p.Leu1546=)
c.9464T= (p.Leu3155=)
c.6059T= (p.Leu2020=)
c.9296T= (p.Leu3099=)
c.4469T= (p.Leu1490=)
n.4042T=
c.9491T= (p.Leu3164=)
c.9482T= (p.Leu3161=)
c.9473T= (p.Leu3158=)
c.9359T= (p.Leu3120=)
c.9194T= (p.Leu3065=)
c.7343T= (p.Leu2448=)
c.5033T= (p.Leu1678=)
n.9732T=
18g.23949878G>ACA503522729LAMA3c.4638G>A (p.Leu1546=)
c.9465G>A (p.Leu3155=)
c.6060G>A (p.Leu2020=)
c.9297G>A (p.Leu3099=)
c.4470G>A (p.Leu1490=)
n.4043G>A
c.9492G>A (p.Leu3164=)
c.9483G>A (p.Leu3161=)
c.9474G>A (p.Leu3158=)
c.9360G>A (p.Leu3120=)
c.9195G>A (p.Leu3065=)
c.7344G>A (p.Leu2448=)
c.5034G>A (p.Leu1678=)
n.9733G>A
18g.23949878G>CCA402051756LAMA3c.4638G>C (p.Leu1546Phe)
c.9465G>C (p.Leu3155Phe)
c.6060G>C (p.Leu2020Phe)
c.9297G>C (p.Leu3099Phe)
c.4470G>C (p.Leu1490Phe)
n.4043G>C
c.9492G>C (p.Leu3164Phe)
c.9483G>C (p.Leu3161Phe)
c.9474G>C (p.Leu3158Phe)
c.9360G>C (p.Leu3120Phe)
c.9195G>C (p.Leu3065Phe)
c.7344G>C (p.Leu2448Phe)
c.5034G>C (p.Leu1678Phe)
n.9733G>C
18g.23949878G>TCA402051757LAMA3c.4638G>T (p.Leu1546Phe)
c.9465G>T (p.Leu3155Phe)
c.6060G>T (p.Leu2020Phe)
c.9297G>T (p.Leu3099Phe)
c.4470G>T (p.Leu1490Phe)
n.4043G>T
c.9492G>T (p.Leu3164Phe)
c.9483G>T (p.Leu3161Phe)
c.9474G>T (p.Leu3158Phe)
c.9360G>T (p.Leu3120Phe)
c.9195G>T (p.Leu3065Phe)
c.7344G>T (p.Leu2448Phe)
c.5034G>T (p.Leu1678Phe)
n.9733G>T
18g.23949879G>ACA402051758LAMA3c.4639G>A (p.Glu1547Lys)
c.9466G>A (p.Glu3156Lys)
c.6061G>A (p.Glu2021Lys)
c.9298G>A (p.Glu3100Lys)
c.4471G>A (p.Glu1491Lys)
n.4044G>A
c.9493G>A (p.Glu3165Lys)
c.9484G>A (p.Glu3162Lys)
c.9475G>A (p.Glu3159Lys)
c.9361G>A (p.Glu3121Lys)
c.9196G>A (p.Glu3066Lys)
c.7345G>A (p.Glu2449Lys)
c.5035G>A (p.Glu1679Lys)
n.9734G>A
18g.23949879G>CCA402051759LAMA3c.4639G>C (p.Glu1547Gln)
c.9466G>C (p.Glu3156Gln)
c.6061G>C (p.Glu2021Gln)
c.9298G>C (p.Glu3100Gln)
c.4471G>C (p.Glu1491Gln)
n.4044G>C
c.9493G>C (p.Glu3165Gln)
c.9484G>C (p.Glu3162Gln)
c.9475G>C (p.Glu3159Gln)
c.9361G>C (p.Glu3121Gln)
c.9196G>C (p.Glu3066Gln)
c.7345G>C (p.Glu2449Gln)
c.5035G>C (p.Glu1679Gln)
n.9734G>C
18g.23949879G>TCA402051760LAMA3c.4639G>T (p.Glu1547Ter)
c.9466G>T (p.Glu3156Ter)
c.6061G>T (p.Glu2021Ter)
c.9298G>T (p.Glu3100Ter)
c.4471G>T (p.Glu1491Ter)
n.4044G>T
c.9493G>T (p.Glu3165Ter)
c.9484G>T (p.Glu3162Ter)
c.9475G>T (p.Glu3159Ter)
c.9361G>T (p.Glu3121Ter)
c.9196G>T (p.Glu3066Ter)
c.7345G>T (p.Glu2449Ter)
c.5035G>T (p.Glu1679Ter)
n.9734G>T
18g.23949880A>CCA402051762LAMA3c.4640A>C (p.Glu1547Ala)
c.9467A>C (p.Glu3156Ala)
c.6062A>C (p.Glu2021Ala)
c.9299A>C (p.Glu3100Ala)
c.4472A>C (p.Glu1491Ala)
n.4045A>C
c.9494A>C (p.Glu3165Ala)
c.9485A>C (p.Glu3162Ala)
c.9476A>C (p.Glu3159Ala)
c.9362A>C (p.Glu3121Ala)
c.9197A>C (p.Glu3066Ala)
c.7346A>C (p.Glu2449Ala)
c.5036A>C (p.Glu1679Ala)
n.9735A>C
18g.23949880A>GCA402051763LAMA3c.4640A>G (p.Glu1547Gly)
c.9467A>G (p.Glu3156Gly)
c.6062A>G (p.Glu2021Gly)
c.9299A>G (p.Glu3100Gly)
c.4472A>G (p.Glu1491Gly)
n.4045A>G
c.9494A>G (p.Glu3165Gly)
c.9485A>G (p.Glu3162Gly)
c.9476A>G (p.Glu3159Gly)
c.9362A>G (p.Glu3121Gly)
c.9197A>G (p.Glu3066Gly)
c.7346A>G (p.Glu2449Gly)
c.5036A>G (p.Glu1679Gly)
n.9735A>G
18g.23949880A>TCA402051761LAMA3c.4640A>T (p.Glu1547Val)
c.9467A>T (p.Glu3156Val)
c.6062A>T (p.Glu2021Val)
c.9299A>T (p.Glu3100Val)
c.4472A>T (p.Glu1491Val)
n.4045A>T
c.9494A>T (p.Glu3165Val)
c.9485A>T (p.Glu3162Val)
c.9476A>T (p.Glu3159Val)
c.9362A>T (p.Glu3121Val)
c.9197A>T (p.Glu3066Val)
c.7346A>T (p.Glu2449Val)
c.5036A>T (p.Glu1679Val)
n.9735A>T
18g.23949881G>ACA503522730LAMA3c.4641G>A (p.Glu1547=)
c.9468G>A (p.Glu3156=)
c.6063G>A (p.Glu2021=)
c.9300G>A (p.Glu3100=)
c.4473G>A (p.Glu1491=)
n.4046G>A
c.9495G>A (p.Glu3165=)
c.9486G>A (p.Glu3162=)
c.9477G>A (p.Glu3159=)
c.9363G>A (p.Glu3121=)
c.9198G>A (p.Glu3066=)
c.7347G>A (p.Glu2449=)
c.5037G>A (p.Glu1679=)
n.9736G>A
18g.23949881G>CCA402051764LAMA3c.4641G>C (p.Glu1547Asp)
c.9468G>C (p.Glu3156Asp)
c.6063G>C (p.Glu2021Asp)
c.9300G>C (p.Glu3100Asp)
c.4473G>C (p.Glu1491Asp)
n.4046G>C
c.9495G>C (p.Glu3165Asp)
c.9486G>C (p.Glu3162Asp)
c.9477G>C (p.Glu3159Asp)
c.9363G>C (p.Glu3121Asp)
c.9198G>C (p.Glu3066Asp)
c.7347G>C (p.Glu2449Asp)
c.5037G>C (p.Glu1679Asp)
n.9736G>C
18g.23949881G>TCA402051765LAMA3c.4641G>T (p.Glu1547Asp)
c.9468G>T (p.Glu3156Asp)
c.6063G>T (p.Glu2021Asp)
c.9300G>T (p.Glu3100Asp)
c.4473G>T (p.Glu1491Asp)
n.4046G>T
c.9495G>T (p.Glu3165Asp)
c.9486G>T (p.Glu3162Asp)
c.9477G>T (p.Glu3159Asp)
c.9363G>T (p.Glu3121Asp)
c.9198G>T (p.Glu3066Asp)
c.7347G>T (p.Glu2449Asp)
c.5037G>T (p.Glu1679Asp)
n.9736G>T
18g.23949882A>CCA402051766LAMA3c.4642A>C (p.Lys1548Gln)
c.9469A>C (p.Lys3157Gln)
c.6064A>C (p.Lys2022Gln)
c.9301A>C (p.Lys3101Gln)
c.4474A>C (p.Lys1492Gln)
n.4047A>C
c.9496A>C (p.Lys3166Gln)
c.9487A>C (p.Lys3163Gln)
c.9478A>C (p.Lys3160Gln)
c.9364A>C (p.Lys3122Gln)
c.9199A>C (p.Lys3067Gln)
c.7348A>C (p.Lys2450Gln)
c.5038A>C (p.Lys1680Gln)
n.9737A>C
18g.23949882A>GCA402051767LAMA3c.4642A>G (p.Lys1548Glu)
c.9469A>G (p.Lys3157Glu)
c.6064A>G (p.Lys2022Glu)
c.9301A>G (p.Lys3101Glu)
c.4474A>G (p.Lys1492Glu)
n.4047A>G
c.9496A>G (p.Lys3166Glu)
c.9487A>G (p.Lys3163Glu)
c.9478A>G (p.Lys3160Glu)
c.9364A>G (p.Lys3122Glu)
c.9199A>G (p.Lys3067Glu)
c.7348A>G (p.Lys2450Glu)
c.5038A>G (p.Lys1680Glu)
n.9737A>G
18g.23949882A>TCA402051768LAMA3c.4642A>T (p.Lys1548Ter)
c.9469A>T (p.Lys3157Ter)
c.6064A>T (p.Lys2022Ter)
c.9301A>T (p.Lys3101Ter)
c.4474A>T (p.Lys1492Ter)
n.4047A>T
c.9496A>T (p.Lys3166Ter)
c.9487A>T (p.Lys3163Ter)
c.9478A>T (p.Lys3160Ter)
c.9364A>T (p.Lys3122Ter)
c.9199A>T (p.Lys3067Ter)
c.7348A>T (p.Lys2450Ter)
c.5038A>T (p.Lys1680Ter)
n.9737A>T
18g.23949883A>CCA402051769LAMA3c.4643A>C (p.Lys1548Thr)
c.9470A>C (p.Lys3157Thr)
c.6065A>C (p.Lys2022Thr)
c.9302A>C (p.Lys3101Thr)
c.4475A>C (p.Lys1492Thr)
n.4048A>C
c.9497A>C (p.Lys3166Thr)
c.9488A>C (p.Lys3163Thr)
c.9479A>C (p.Lys3160Thr)
c.9365A>C (p.Lys3122Thr)
c.9200A>C (p.Lys3067Thr)
c.7349A>C (p.Lys2450Thr)
c.5039A>C (p.Lys1680Thr)
n.9738A>C
18g.23949883A>GCA402051770LAMA3c.4643A>G (p.Lys1548Arg)
c.9470A>G (p.Lys3157Arg)
c.6065A>G (p.Lys2022Arg)
c.9302A>G (p.Lys3101Arg)
c.4475A>G (p.Lys1492Arg)
n.4048A>G
c.9497A>G (p.Lys3166Arg)
c.9488A>G (p.Lys3163Arg)
c.9479A>G (p.Lys3160Arg)
c.9365A>G (p.Lys3122Arg)
c.9200A>G (p.Lys3067Arg)
c.7349A>G (p.Lys2450Arg)
c.5039A>G (p.Lys1680Arg)
n.9738A>G
18g.23949883A>TCA402051771LAMA3c.4643A>T (p.Lys1548Ile)
c.9470A>T (p.Lys3157Ile)
c.6065A>T (p.Lys2022Ile)
c.9302A>T (p.Lys3101Ile)
c.4475A>T (p.Lys1492Ile)
n.4048A>T
c.9497A>T (p.Lys3166Ile)
c.9488A>T (p.Lys3163Ile)
c.9479A>T (p.Lys3160Ile)
c.9365A>T (p.Lys3122Ile)
c.9200A>T (p.Lys3067Ile)
c.7349A>T (p.Lys2450Ile)
c.5039A>T (p.Lys1680Ile)
n.9738A>T
18g.23949884A=CA2290343836LAMA3c.4644A= (p.Lys1548=)
c.9471A= (p.Lys3157=)
c.6066A= (p.Lys2022=)
c.9303A= (p.Lys3101=)
c.4476A= (p.Lys1492=)
n.4049A=
c.9498A= (p.Lys3166=)
c.9489A= (p.Lys3163=)
c.9480A= (p.Lys3160=)
c.9366A= (p.Lys3122=)
c.9201A= (p.Lys3067=)
c.7350A= (p.Lys2450=)
c.5040A= (p.Lys1680=)
n.9739A=
18g.23949884A>CCA402051772LAMA3c.4644A>C (p.Lys1548Asn)
c.9471A>C (p.Lys3157Asn)
c.6066A>C (p.Lys2022Asn)
c.9303A>C (p.Lys3101Asn)
c.4476A>C (p.Lys1492Asn)
n.4049A>C
c.9498A>C (p.Lys3166Asn)
c.9489A>C (p.Lys3163Asn)
c.9480A>C (p.Lys3160Asn)
c.9366A>C (p.Lys3122Asn)
c.9201A>C (p.Lys3067Asn)
c.7350A>C (p.Lys2450Asn)
c.5040A>C (p.Lys1680Asn)
n.9739A>C
 dbSNP gnomAD v2 gnomAD v4
18g.23949884A>GCA503522731LAMA3c.4644A>G (p.Lys1548=)
c.9471A>G (p.Lys3157=)
c.6066A>G (p.Lys2022=)
c.9303A>G (p.Lys3101=)
c.4476A>G (p.Lys1492=)
n.4049A>G
c.9498A>G (p.Lys3166=)
c.9489A>G (p.Lys3163=)
c.9480A>G (p.Lys3160=)
c.9366A>G (p.Lys3122=)
c.9201A>G (p.Lys3067=)
c.7350A>G (p.Lys2450=)
c.5040A>G (p.Lys1680=)
n.9739A>G
18g.23949884A>TCA402051773LAMA3c.4644A>T (p.Lys1548Asn)
c.9471A>T (p.Lys3157Asn)
c.6066A>T (p.Lys2022Asn)
c.9303A>T (p.Lys3101Asn)
c.4476A>T (p.Lys1492Asn)
n.4049A>T
c.9498A>T (p.Lys3166Asn)
c.9489A>T (p.Lys3163Asn)
c.9480A>T (p.Lys3160Asn)
c.9366A>T (p.Lys3122Asn)
c.9201A>T (p.Lys3067Asn)
c.7350A>T (p.Lys2450Asn)
c.5040A>T (p.Lys1680Asn)
n.9739A>T
18g.23949885G>ACA402051774LAMA3c.4645G>A (p.Gly1549Ser)
c.9472G>A (p.Gly3158Ser)
c.6067G>A (p.Gly2023Ser)
c.9304G>A (p.Gly3102Ser)
c.4477G>A (p.Gly1493Ser)
n.4050G>A
c.9499G>A (p.Gly3167Ser)
c.9490G>A (p.Gly3164Ser)
c.9481G>A (p.Gly3161Ser)
c.9367G>A (p.Gly3123Ser)
c.9202G>A (p.Gly3068Ser)
c.7351G>A (p.Gly2451Ser)
c.5041G>A (p.Gly1681Ser)
n.9740G>A
18g.23949885G>CCA402051775LAMA3c.4645G>C (p.Gly1549Arg)
c.9472G>C (p.Gly3158Arg)
c.6067G>C (p.Gly2023Arg)
c.9304G>C (p.Gly3102Arg)
c.4477G>C (p.Gly1493Arg)
n.4050G>C
c.9499G>C (p.Gly3167Arg)
c.9490G>C (p.Gly3164Arg)
c.9481G>C (p.Gly3161Arg)
c.9367G>C (p.Gly3123Arg)
c.9202G>C (p.Gly3068Arg)
c.7351G>C (p.Gly2451Arg)
c.5041G>C (p.Gly1681Arg)
n.9740G>C
 dbSNP gnomAD v3 gnomAD v4
18g.23949885G=CA2290343838LAMA3c.4645G= (p.Gly1549=)
c.9472G= (p.Gly3158=)
c.6067G= (p.Gly2023=)
c.9304G= (p.Gly3102=)
c.4477G= (p.Gly1493=)
n.4050G=
c.9499G= (p.Gly3167=)
c.9490G= (p.Gly3164=)
c.9481G= (p.Gly3161=)
c.9367G= (p.Gly3123=)
c.9202G= (p.Gly3068=)
c.7351G= (p.Gly2451=)
c.5041G= (p.Gly1681=)
n.9740G=
18g.23949885G>TCA402051776LAMA3c.4645G>T (p.Gly1549Cys)
c.9472G>T (p.Gly3158Cys)
c.6067G>T (p.Gly2023Cys)
c.9304G>T (p.Gly3102Cys)
c.4477G>T (p.Gly1493Cys)
n.4050G>T
c.9499G>T (p.Gly3167Cys)
c.9490G>T (p.Gly3164Cys)
c.9481G>T (p.Gly3161Cys)
c.9367G>T (p.Gly3123Cys)
c.9202G>T (p.Gly3068Cys)
c.7351G>T (p.Gly2451Cys)
c.5041G>T (p.Gly1681Cys)
n.9740G>T
 COSMIC
18g.23949886G>ACA402051777LAMA3c.4646G>A (p.Gly1549Asp)
c.9473G>A (p.Gly3158Asp)
c.6068G>A (p.Gly2023Asp)
c.9305G>A (p.Gly3102Asp)
c.4478G>A (p.Gly1493Asp)
n.4051G>A
c.9500G>A (p.Gly3167Asp)
c.9491G>A (p.Gly3164Asp)
c.9482G>A (p.Gly3161Asp)
c.9368G>A (p.Gly3123Asp)
c.9203G>A (p.Gly3068Asp)
c.7352G>A (p.Gly2451Asp)
c.5042G>A (p.Gly1681Asp)
n.9741G>A
 gnomAD v4
18g.23949886G>CCA402051779LAMA3c.4646G>C (p.Gly1549Ala)
c.9473G>C (p.Gly3158Ala)
c.6068G>C (p.Gly2023Ala)
c.9305G>C (p.Gly3102Ala)
c.4478G>C (p.Gly1493Ala)
n.4051G>C
c.9500G>C (p.Gly3167Ala)
c.9491G>C (p.Gly3164Ala)
c.9482G>C (p.Gly3161Ala)
c.9368G>C (p.Gly3123Ala)
c.9203G>C (p.Gly3068Ala)
c.7352G>C (p.Gly2451Ala)
c.5042G>C (p.Gly1681Ala)
n.9741G>C
18g.23949886G>TCA402051778LAMA3c.4646G>T (p.Gly1549Val)
c.9473G>T (p.Gly3158Val)
c.6068G>T (p.Gly2023Val)
c.9305G>T (p.Gly3102Val)
c.4478G>T (p.Gly1493Val)
n.4051G>T
c.9500G>T (p.Gly3167Val)
c.9491G>T (p.Gly3164Val)
c.9482G>T (p.Gly3161Val)
c.9368G>T (p.Gly3123Val)
c.9203G>T (p.Gly3068Val)
c.7352G>T (p.Gly2451Val)
c.5042G>T (p.Gly1681Val)
n.9741G>T
18g.23949887C>ACA503522732LAMA3c.4647C>A (p.Gly1549=)
c.9474C>A (p.Gly3158=)
c.6069C>A (p.Gly2023=)
c.9306C>A (p.Gly3102=)
c.4479C>A (p.Gly1493=)
n.4052C>A
c.9501C>A (p.Gly3167=)
c.9492C>A (p.Gly3164=)
c.9483C>A (p.Gly3161=)
c.9369C>A (p.Gly3123=)
c.9204C>A (p.Gly3068=)
c.7353C>A (p.Gly2451=)
c.5043C>A (p.Gly1681=)
n.9742C>A
18g.23949887C=CA2290343844LAMA3c.4647C= (p.Gly1549=)
c.9474C= (p.Gly3158=)
c.6069C= (p.Gly2023=)
c.9306C= (p.Gly3102=)
c.4479C= (p.Gly1493=)
n.4052C=
c.9501C= (p.Gly3167=)
c.9492C= (p.Gly3164=)
c.9483C= (p.Gly3161=)
c.9369C= (p.Gly3123=)
c.9204C= (p.Gly3068=)
c.7353C= (p.Gly2451=)
c.5043C= (p.Gly1681=)
n.9742C=
18g.23949887C>GCA503522733LAMA3c.4647C>G (p.Gly1549=)
c.9474C>G (p.Gly3158=)
c.6069C>G (p.Gly2023=)
c.9306C>G (p.Gly3102=)
c.4479C>G (p.Gly1493=)
n.4052C>G
c.9501C>G (p.Gly3167=)
c.9492C>G (p.Gly3164=)
c.9483C>G (p.Gly3161=)
c.9369C>G (p.Gly3123=)
c.9204C>G (p.Gly3068=)
c.7353C>G (p.Gly2451=)
c.5043C>G (p.Gly1681=)
n.9742C>G
18g.23949887C>TCA297100219LAMA3c.4647C>T (p.Gly1549=)
c.9474C>T (p.Gly3158=)
c.6069C>T (p.Gly2023=)
c.9306C>T (p.Gly3102=)
c.4479C>T (p.Gly1493=)
n.4052C>T
c.9501C>T (p.Gly3167=)
c.9492C>T (p.Gly3164=)
c.9483C>T (p.Gly3161=)
c.9369C>T (p.Gly3123=)
c.9204C>T (p.Gly3068=)
c.7353C>T (p.Gly2451=)
c.5043C>T (p.Gly1681=)
n.9742C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23949888A=CA2290343850LAMA3c.4648A= (p.Ile1550=)
c.9475A= (p.Ile3159=)
c.6070A= (p.Ile2024=)
c.9307A= (p.Ile3103=)
c.4480A= (p.Ile1494=)
n.4053A=
c.9502A= (p.Ile3168=)
c.9493A= (p.Ile3165=)
c.9484A= (p.Ile3162=)
c.9370A= (p.Ile3124=)
c.9205A= (p.Ile3069=)
c.7354A= (p.Ile2452=)
c.5044A= (p.Ile1682=)
n.9743A=
18g.23949888A>CCA402051780LAMA3c.4648A>C (p.Ile1550Leu)
c.9475A>C (p.Ile3159Leu)
c.6070A>C (p.Ile2024Leu)
c.9307A>C (p.Ile3103Leu)
c.4480A>C (p.Ile1494Leu)
n.4053A>C
c.9502A>C (p.Ile3168Leu)
c.9493A>C (p.Ile3165Leu)
c.9484A>C (p.Ile3162Leu)
c.9370A>C (p.Ile3124Leu)
c.9205A>C (p.Ile3069Leu)
c.7354A>C (p.Ile2452Leu)
c.5044A>C (p.Ile1682Leu)
n.9743A>C
18g.23949888A>GCA8917191LAMA3c.4648A>G (p.Ile1550Val)
c.9475A>G (p.Ile3159Val)
c.6070A>G (p.Ile2024Val)
c.9307A>G (p.Ile3103Val)
c.4480A>G (p.Ile1494Val)
n.4053A>G
c.9502A>G (p.Ile3168Val)
c.9493A>G (p.Ile3165Val)
c.9484A>G (p.Ile3162Val)
c.9370A>G (p.Ile3124Val)
c.9205A>G (p.Ile3069Val)
c.7354A>G (p.Ile2452Val)
c.5044A>G (p.Ile1682Val)
n.9743A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949888A>TCA402051781LAMA3c.4648A>T (p.Ile1550Phe)
c.9475A>T (p.Ile3159Phe)
c.6070A>T (p.Ile2024Phe)
c.9307A>T (p.Ile3103Phe)
c.4480A>T (p.Ile1494Phe)
n.4053A>T
c.9502A>T (p.Ile3168Phe)
c.9493A>T (p.Ile3165Phe)
c.9484A>T (p.Ile3162Phe)
c.9370A>T (p.Ile3124Phe)
c.9205A>T (p.Ile3069Phe)
c.7354A>T (p.Ile2452Phe)
c.5044A>T (p.Ile1682Phe)
n.9743A>T
18g.23949889T>ACA402051782LAMA3c.4649T>A (p.Ile1550Asn)
c.9476T>A (p.Ile3159Asn)
c.6071T>A (p.Ile2024Asn)
c.9308T>A (p.Ile3103Asn)
c.4481T>A (p.Ile1494Asn)
n.4054T>A
c.9503T>A (p.Ile3168Asn)
c.9494T>A (p.Ile3165Asn)
c.9485T>A (p.Ile3162Asn)
c.9371T>A (p.Ile3124Asn)
c.9206T>A (p.Ile3069Asn)
c.7355T>A (p.Ile2452Asn)
c.5045T>A (p.Ile1682Asn)
n.9744T>A
18g.23949889T>CCA402051783LAMA3c.4649T>C (p.Ile1550Thr)
c.9476T>C (p.Ile3159Thr)
c.6071T>C (p.Ile2024Thr)
c.9308T>C (p.Ile3103Thr)
c.4481T>C (p.Ile1494Thr)
n.4054T>C
c.9503T>C (p.Ile3168Thr)
c.9494T>C (p.Ile3165Thr)
c.9485T>C (p.Ile3162Thr)
c.9371T>C (p.Ile3124Thr)
c.9206T>C (p.Ile3069Thr)
c.7355T>C (p.Ile2452Thr)
c.5045T>C (p.Ile1682Thr)
n.9744T>C
18g.23949889T>GCA402051784LAMA3c.4649T>G (p.Ile1550Ser)
c.9476T>G (p.Ile3159Ser)
c.6071T>G (p.Ile2024Ser)
c.9308T>G (p.Ile3103Ser)
c.4481T>G (p.Ile1494Ser)
n.4054T>G
c.9503T>G (p.Ile3168Ser)
c.9494T>G (p.Ile3165Ser)
c.9485T>G (p.Ile3162Ser)
c.9371T>G (p.Ile3124Ser)
c.9206T>G (p.Ile3069Ser)
c.7355T>G (p.Ile2452Ser)
c.5045T>G (p.Ile1682Ser)
n.9744T>G
 gnomAD v4
18g.23949890T>ACA503522738LAMA3c.4650T>A (p.Ile1550=)
c.9477T>A (p.Ile3159=)
c.6072T>A (p.Ile2024=)
c.9309T>A (p.Ile3103=)
c.4482T>A (p.Ile1494=)
n.4055T>A
c.9504T>A (p.Ile3168=)
c.9495T>A (p.Ile3165=)
c.9486T>A (p.Ile3162=)
c.9372T>A (p.Ile3124=)
c.9207T>A (p.Ile3069=)
c.7356T>A (p.Ile2452=)
c.5046T>A (p.Ile1682=)
n.9745T>A
18g.23949890T>CCA503522739LAMA3c.4650T>C (p.Ile1550=)
c.9477T>C (p.Ile3159=)
c.6072T>C (p.Ile2024=)
c.9309T>C (p.Ile3103=)
c.4482T>C (p.Ile1494=)
n.4055T>C
c.9504T>C (p.Ile3168=)
c.9495T>C (p.Ile3165=)
c.9486T>C (p.Ile3162=)
c.9372T>C (p.Ile3124=)
c.9207T>C (p.Ile3069=)
c.7356T>C (p.Ile2452=)
c.5046T>C (p.Ile1682=)
n.9745T>C
18g.23949890T>GCA402051785LAMA3c.4650T>G (p.Ile1550Met)
c.9477T>G (p.Ile3159Met)
c.6072T>G (p.Ile2024Met)
c.9309T>G (p.Ile3103Met)
c.4482T>G (p.Ile1494Met)
n.4055T>G
c.9504T>G (p.Ile3168Met)
c.9495T>G (p.Ile3165Met)
c.9486T>G (p.Ile3162Met)
c.9372T>G (p.Ile3124Met)
c.9207T>G (p.Ile3069Met)
c.7356T>G (p.Ile2452Met)
c.5046T>G (p.Ile1682Met)
n.9745T>G
18g.23949891T>ACA402051786LAMA3c.4651T>A (p.Tyr1551Asn)
c.9478T>A (p.Tyr3160Asn)
c.6073T>A (p.Tyr2025Asn)
c.9310T>A (p.Tyr3104Asn)
c.4483T>A (p.Tyr1495Asn)
n.4056T>A
c.9505T>A (p.Tyr3169Asn)
c.9496T>A (p.Tyr3166Asn)
c.9487T>A (p.Tyr3163Asn)
c.9373T>A (p.Tyr3125Asn)
c.9208T>A (p.Tyr3070Asn)
c.7357T>A (p.Tyr2453Asn)
c.5047T>A (p.Tyr1683Asn)
n.9746T>A
18g.23949891T>CCA402051787LAMA3c.4651T>C (p.Tyr1551His)
c.9478T>C (p.Tyr3160His)
c.6073T>C (p.Tyr2025His)
c.9310T>C (p.Tyr3104His)
c.4483T>C (p.Tyr1495His)
n.4056T>C
c.9505T>C (p.Tyr3169His)
c.9496T>C (p.Tyr3166His)
c.9487T>C (p.Tyr3163His)
c.9373T>C (p.Tyr3125His)
c.9208T>C (p.Tyr3070His)
c.7357T>C (p.Tyr2453His)
c.5047T>C (p.Tyr1683His)
n.9746T>C
18g.23949891T>GCA402051788LAMA3c.4651T>G (p.Tyr1551Asp)
c.9478T>G (p.Tyr3160Asp)
c.6073T>G (p.Tyr2025Asp)
c.9310T>G (p.Tyr3104Asp)
c.4483T>G (p.Tyr1495Asp)
n.4056T>G
c.9505T>G (p.Tyr3169Asp)
c.9496T>G (p.Tyr3166Asp)
c.9487T>G (p.Tyr3163Asp)
c.9373T>G (p.Tyr3125Asp)
c.9208T>G (p.Tyr3070Asp)
c.7357T>G (p.Tyr2453Asp)
c.5047T>G (p.Tyr1683Asp)
n.9746T>G
18g.23949892A=CA2290343854LAMA3c.4652A= (p.Tyr1551=)
c.9479A= (p.Tyr3160=)
c.6074A= (p.Tyr2025=)
c.9311A= (p.Tyr3104=)
c.4484A= (p.Tyr1495=)
n.4057A=
c.9506A= (p.Tyr3169=)
c.9497A= (p.Tyr3166=)
c.9488A= (p.Tyr3163=)
c.9374A= (p.Tyr3125=)
c.9209A= (p.Tyr3070=)
c.7358A= (p.Tyr2453=)
c.5048A= (p.Tyr1683=)
n.9747A=
18g.23949892A>CCA402051790LAMA3c.4652A>C (p.Tyr1551Ser)
c.9479A>C (p.Tyr3160Ser)
c.6074A>C (p.Tyr2025Ser)
c.9311A>C (p.Tyr3104Ser)
c.4484A>C (p.Tyr1495Ser)
n.4057A>C
c.9506A>C (p.Tyr3169Ser)
c.9497A>C (p.Tyr3166Ser)
c.9488A>C (p.Tyr3163Ser)
c.9374A>C (p.Tyr3125Ser)
c.9209A>C (p.Tyr3070Ser)
c.7358A>C (p.Tyr2453Ser)
c.5048A>C (p.Tyr1683Ser)
n.9747A>C
18g.23949892A>GCA8917192LAMA3c.4652A>G (p.Tyr1551Cys)
c.9479A>G (p.Tyr3160Cys)
c.6074A>G (p.Tyr2025Cys)
c.9311A>G (p.Tyr3104Cys)
c.4484A>G (p.Tyr1495Cys)
n.4057A>G
c.9506A>G (p.Tyr3169Cys)
c.9497A>G (p.Tyr3166Cys)
c.9488A>G (p.Tyr3163Cys)
c.9374A>G (p.Tyr3125Cys)
c.9209A>G (p.Tyr3070Cys)
c.7358A>G (p.Tyr2453Cys)
c.5048A>G (p.Tyr1683Cys)
n.9747A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949892A>TCA402051789LAMA3c.4652A>T (p.Tyr1551Phe)
c.9479A>T (p.Tyr3160Phe)
c.6074A>T (p.Tyr2025Phe)
c.9311A>T (p.Tyr3104Phe)
c.4484A>T (p.Tyr1495Phe)
n.4057A>T
c.9506A>T (p.Tyr3169Phe)
c.9497A>T (p.Tyr3166Phe)
c.9488A>T (p.Tyr3163Phe)
c.9374A>T (p.Tyr3125Phe)
c.9209A>T (p.Tyr3070Phe)
c.7358A>T (p.Tyr2453Phe)
c.5048A>T (p.Tyr1683Phe)
n.9747A>T
18g.23949893T>ACA402051792LAMA3c.4653T>A (p.Tyr1551Ter)
c.9480T>A (p.Tyr3160Ter)
c.6075T>A (p.Tyr2025Ter)
c.9312T>A (p.Tyr3104Ter)
c.4485T>A (p.Tyr1495Ter)
c.1T>A
n.4058T>A
c.9507T>A (p.Tyr3169Ter)
c.9498T>A (p.Tyr3166Ter)
c.9489T>A (p.Tyr3163Ter)
c.9375T>A (p.Tyr3125Ter)
c.9210T>A (p.Tyr3070Ter)
c.7359T>A (p.Tyr2453Ter)
c.5049T>A (p.Tyr1683Ter)
n.9748T>A
18g.23949893T>CCA503522741LAMA3c.4653T>C (p.Tyr1551=)
c.9480T>C (p.Tyr3160=)
c.6075T>C (p.Tyr2025=)
c.9312T>C (p.Tyr3104=)
c.4485T>C (p.Tyr1495=)
c.1T>C
n.4058T>C
c.9507T>C (p.Tyr3169=)
c.9498T>C (p.Tyr3166=)
c.9489T>C (p.Tyr3163=)
c.9375T>C (p.Tyr3125=)
c.9210T>C (p.Tyr3070=)
c.7359T>C (p.Tyr2453=)
c.5049T>C (p.Tyr1683=)
n.9748T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23949893T>GCA402051791LAMA3c.4653T>G (p.Tyr1551Ter)
c.9480T>G (p.Tyr3160Ter)
c.6075T>G (p.Tyr2025Ter)
c.9312T>G (p.Tyr3104Ter)
c.4485T>G (p.Tyr1495Ter)
c.1T>G
n.4058T>G
c.9507T>G (p.Tyr3169Ter)
c.9498T>G (p.Tyr3166Ter)
c.9489T>G (p.Tyr3163Ter)
c.9375T>G (p.Tyr3125Ter)
c.9210T>G (p.Tyr3070Ter)
c.7359T>G (p.Tyr2453Ter)
c.5049T>G (p.Tyr1683Ter)
n.9748T>G
18g.23949893T=CA2290343857LAMA3c.4653T= (p.Tyr1551=)
c.9480T= (p.Tyr3160=)
c.6075T= (p.Tyr2025=)
c.9312T= (p.Tyr3104=)
c.4485T= (p.Tyr1495=)
c.1T=
n.4058T=
c.9507T= (p.Tyr3169=)
c.9498T= (p.Tyr3166=)
c.9489T= (p.Tyr3163=)
c.9375T= (p.Tyr3125=)
c.9210T= (p.Tyr3070=)
c.7359T= (p.Tyr2453=)
c.5049T= (p.Tyr1683=)
n.9748T=
18g.23949894T>ACA402051793LAMA3c.4654T>A (p.Phe1552Ile)
c.9481T>A (p.Phe3161Ile)
c.6076T>A (p.Phe2026Ile)
c.9313T>A (p.Phe3105Ile)
c.4486T>A (p.Phe1496Ile)
c.2T>A
n.4059T>A
c.9508T>A (p.Phe3170Ile)
c.9499T>A (p.Phe3167Ile)
c.9490T>A (p.Phe3164Ile)
c.9376T>A (p.Phe3126Ile)
c.9211T>A (p.Phe3071Ile)
c.7360T>A (p.Phe2454Ile)
c.5050T>A (p.Phe1684Ile)
n.9749T>A
18g.23949894T>CCA402051794LAMA3c.4654T>C (p.Phe1552Leu)
c.9481T>C (p.Phe3161Leu)
c.6076T>C (p.Phe2026Leu)
c.9313T>C (p.Phe3105Leu)
c.4486T>C (p.Phe1496Leu)
c.2T>C
n.4059T>C
c.9508T>C (p.Phe3170Leu)
c.9499T>C (p.Phe3167Leu)
c.9490T>C (p.Phe3164Leu)
c.9376T>C (p.Phe3126Leu)
c.9211T>C (p.Phe3071Leu)
c.7360T>C (p.Phe2454Leu)
c.5050T>C (p.Phe1684Leu)
n.9749T>C
18g.23949894T>GCA402051795LAMA3c.4654T>G (p.Phe1552Val)
c.9481T>G (p.Phe3161Val)
c.6076T>G (p.Phe2026Val)
c.9313T>G (p.Phe3105Val)
c.4486T>G (p.Phe1496Val)
c.2T>G
n.4059T>G
c.9508T>G (p.Phe3170Val)
c.9499T>G (p.Phe3167Val)
c.9490T>G (p.Phe3164Val)
c.9376T>G (p.Phe3126Val)
c.9211T>G (p.Phe3071Val)
c.7360T>G (p.Phe2454Val)
c.5050T>G (p.Phe1684Val)
n.9749T>G
18g.23949895T>ACA402051796LAMA3c.4655T>A (p.Phe1552Tyr)
c.9482T>A (p.Phe3161Tyr)
c.6077T>A (p.Phe2026Tyr)
c.9314T>A (p.Phe3105Tyr)
c.4487T>A (p.Phe1496Tyr)
c.3T>A
n.4060T>A
c.9509T>A (p.Phe3170Tyr)
c.9500T>A (p.Phe3167Tyr)
c.9491T>A (p.Phe3164Tyr)
c.9377T>A (p.Phe3126Tyr)
c.9212T>A (p.Phe3071Tyr)
c.7361T>A (p.Phe2454Tyr)
c.5051T>A (p.Phe1684Tyr)
n.9750T>A
18g.23949895T>CCA402051797LAMA3c.4655T>C (p.Phe1552Ser)
c.9482T>C (p.Phe3161Ser)
c.6077T>C (p.Phe2026Ser)
c.9314T>C (p.Phe3105Ser)
c.4487T>C (p.Phe1496Ser)
c.3T>C
n.4060T>C
c.9509T>C (p.Phe3170Ser)
c.9500T>C (p.Phe3167Ser)
c.9491T>C (p.Phe3164Ser)
c.9377T>C (p.Phe3126Ser)
c.9212T>C (p.Phe3071Ser)
c.7361T>C (p.Phe2454Ser)
c.5051T>C (p.Phe1684Ser)
n.9750T>C
18g.23949895T>GCA402051798LAMA3c.4655T>G (p.Phe1552Cys)
c.9482T>G (p.Phe3161Cys)
c.6077T>G (p.Phe2026Cys)
c.9314T>G (p.Phe3105Cys)
c.4487T>G (p.Phe1496Cys)
c.3T>G
n.4060T>G
c.9509T>G (p.Phe3170Cys)
c.9500T>G (p.Phe3167Cys)
c.9491T>G (p.Phe3164Cys)
c.9377T>G (p.Phe3126Cys)
c.9212T>G (p.Phe3071Cys)
c.7361T>G (p.Phe2454Cys)
c.5051T>G (p.Phe1684Cys)
n.9750T>G
18g.23949896C>ACA402051799LAMA3c.4656C>A (p.Phe1552Leu)
c.9483C>A (p.Phe3161Leu)
c.6078C>A (p.Phe2026Leu)
c.9315C>A (p.Phe3105Leu)
c.4488C>A (p.Phe1496Leu)
c.4C>A
n.4061C>A
c.9510C>A (p.Phe3170Leu)
c.9501C>A (p.Phe3167Leu)
c.9492C>A (p.Phe3164Leu)
c.9378C>A (p.Phe3126Leu)
c.9213C>A (p.Phe3071Leu)
c.7362C>A (p.Phe2454Leu)
c.5052C>A (p.Phe1684Leu)
n.9751C>A
 COSMIC COSMIC
18g.23949896C>GCA402051800LAMA3c.4656C>G (p.Phe1552Leu)
c.9483C>G (p.Phe3161Leu)
c.6078C>G (p.Phe2026Leu)
c.9315C>G (p.Phe3105Leu)
c.4488C>G (p.Phe1496Leu)
c.4C>G
n.4061C>G
c.9510C>G (p.Phe3170Leu)
c.9501C>G (p.Phe3167Leu)
c.9492C>G (p.Phe3164Leu)
c.9378C>G (p.Phe3126Leu)
c.9213C>G (p.Phe3071Leu)
c.7362C>G (p.Phe2454Leu)
c.5052C>G (p.Phe1684Leu)
n.9751C>G
18g.23949896C>TCA503522746LAMA3c.4656C>T (p.Phe1552=)
c.9483C>T (p.Phe3161=)
c.6078C>T (p.Phe2026=)
c.9315C>T (p.Phe3105=)
c.4488C>T (p.Phe1496=)
c.4C>T
n.4061C>T
c.9510C>T (p.Phe3170=)
c.9501C>T (p.Phe3167=)
c.9492C>T (p.Phe3164=)
c.9378C>T (p.Phe3126=)
c.9213C>T (p.Phe3071=)
c.7362C>T (p.Phe2454=)
c.5052C>T (p.Phe1684=)
n.9751C>T
18g.23949897T>ACA402051801LAMA3c.4657T>A (p.Ser1553Thr)
c.9484T>A (p.Ser3162Thr)
c.6079T>A (p.Ser2027Thr)
c.9316T>A (p.Ser3106Thr)
c.4489T>A (p.Ser1497Thr)
c.5T>A
n.4062T>A
c.9511T>A (p.Ser3171Thr)
c.9502T>A (p.Ser3168Thr)
c.9493T>A (p.Ser3165Thr)
c.9379T>A (p.Ser3127Thr)
c.9214T>A (p.Ser3072Thr)
c.7363T>A (p.Ser2455Thr)
c.5053T>A (p.Ser1685Thr)
n.9752T>A
18g.23949897T>CCA402051802LAMA3c.4657T>C (p.Ser1553Pro)
c.9484T>C (p.Ser3162Pro)
c.6079T>C (p.Ser2027Pro)
c.9316T>C (p.Ser3106Pro)
c.4489T>C (p.Ser1497Pro)
c.5T>C
n.4062T>C
c.9511T>C (p.Ser3171Pro)
c.9502T>C (p.Ser3168Pro)
c.9493T>C (p.Ser3165Pro)
c.9379T>C (p.Ser3127Pro)
c.9214T>C (p.Ser3072Pro)
c.7363T>C (p.Ser2455Pro)
c.5053T>C (p.Ser1685Pro)
n.9752T>C
18g.23949897T>GCA402051803LAMA3c.4657T>G (p.Ser1553Ala)
c.9484T>G (p.Ser3162Ala)
c.6079T>G (p.Ser2027Ala)
c.9316T>G (p.Ser3106Ala)
c.4489T>G (p.Ser1497Ala)
c.5T>G
n.4062T>G
c.9511T>G (p.Ser3171Ala)
c.9502T>G (p.Ser3168Ala)
c.9493T>G (p.Ser3165Ala)
c.9379T>G (p.Ser3127Ala)
c.9214T>G (p.Ser3072Ala)
c.7363T>G (p.Ser2455Ala)
c.5053T>G (p.Ser1685Ala)
n.9752T>G
18g.23949898C>ACA402051805LAMA3c.4658C>A (p.Ser1553Tyr)
c.9485C>A (p.Ser3162Tyr)
c.6080C>A (p.Ser2027Tyr)
c.9317C>A (p.Ser3106Tyr)
c.4490C>A (p.Ser1497Tyr)
c.6C>A
n.4063C>A
c.9512C>A (p.Ser3171Tyr)
c.9503C>A (p.Ser3168Tyr)
c.9494C>A (p.Ser3165Tyr)
c.9380C>A (p.Ser3127Tyr)
c.9215C>A (p.Ser3072Tyr)
c.7364C>A (p.Ser2455Tyr)
c.5054C>A (p.Ser1685Tyr)
n.9753C>A
18g.23949898C>GCA402051806LAMA3c.4658C>G (p.Ser1553Cys)
c.9485C>G (p.Ser3162Cys)
c.6080C>G (p.Ser2027Cys)
c.9317C>G (p.Ser3106Cys)
c.4490C>G (p.Ser1497Cys)
c.6C>G
n.4063C>G
c.9512C>G (p.Ser3171Cys)
c.9503C>G (p.Ser3168Cys)
c.9494C>G (p.Ser3165Cys)
c.9380C>G (p.Ser3127Cys)
c.9215C>G (p.Ser3072Cys)
c.7364C>G (p.Ser2455Cys)
c.5054C>G (p.Ser1685Cys)
n.9753C>G
18g.23949898C>TCA402051804LAMA3c.4658C>T (p.Ser1553Phe)
c.9485C>T (p.Ser3162Phe)
c.6080C>T (p.Ser2027Phe)
c.9317C>T (p.Ser3106Phe)
c.4490C>T (p.Ser1497Phe)
c.6C>T
n.4063C>T
c.9512C>T (p.Ser3171Phe)
c.9503C>T (p.Ser3168Phe)
c.9494C>T (p.Ser3165Phe)
c.9380C>T (p.Ser3127Phe)
c.9215C>T (p.Ser3072Phe)
c.7364C>T (p.Ser2455Phe)
c.5054C>T (p.Ser1685Phe)
n.9753C>T
18g.23949899T>ACA503522749LAMA3c.4659T>A (p.Ser1553=)
c.9486T>A (p.Ser3162=)
c.6081T>A (p.Ser2027=)
c.9318T>A (p.Ser3106=)
c.4491T>A (p.Ser1497=)
c.7T>A
n.4064T>A
c.9513T>A (p.Ser3171=)
c.9504T>A (p.Ser3168=)
c.9495T>A (p.Ser3165=)
c.9381T>A (p.Ser3127=)
c.9216T>A (p.Ser3072=)
c.7365T>A (p.Ser2455=)
c.5055T>A (p.Ser1685=)
n.9754T>A
18g.23949899T>CCA503522750LAMA3c.4659T>C (p.Ser1553=)
c.9486T>C (p.Ser3162=)
c.6081T>C (p.Ser2027=)
c.9318T>C (p.Ser3106=)
c.4491T>C (p.Ser1497=)
c.7T>C
n.4064T>C
c.9513T>C (p.Ser3171=)
c.9504T>C (p.Ser3168=)
c.9495T>C (p.Ser3165=)
c.9381T>C (p.Ser3127=)
c.9216T>C (p.Ser3072=)
c.7365T>C (p.Ser2455=)
c.5055T>C (p.Ser1685=)
n.9754T>C
 dbSNP gnomAD v4
18g.23949899T>GCA503522751LAMA3c.4659T>G (p.Ser1553=)
c.9486T>G (p.Ser3162=)
c.6081T>G (p.Ser2027=)
c.9318T>G (p.Ser3106=)
c.4491T>G (p.Ser1497=)
c.7T>G
n.4064T>G
c.9513T>G (p.Ser3171=)
c.9504T>G (p.Ser3168=)
c.9495T>G (p.Ser3165=)
c.9381T>G (p.Ser3127=)
c.9216T>G (p.Ser3072=)
c.7365T>G (p.Ser2455=)
c.5055T>G (p.Ser1685=)
n.9754T>G
18g.23949900G>ACA402051807LAMA3c.4660G>A (p.Glu1554Lys)
c.9487G>A (p.Glu3163Lys)
c.6082G>A (p.Glu2028Lys)
c.9319G>A (p.Glu3107Lys)
c.4492G>A (p.Glu1498Lys)
c.8G>A
n.4065G>A
c.9514G>A (p.Glu3172Lys)
c.9505G>A (p.Glu3169Lys)
c.9496G>A (p.Glu3166Lys)
c.9382G>A (p.Glu3128Lys)
c.9217G>A (p.Glu3073Lys)
c.7366G>A (p.Glu2456Lys)
c.5056G>A (p.Glu1686Lys)
n.9755G>A
18g.23949900G>CCA402051808LAMA3c.4660G>C (p.Glu1554Gln)
c.9487G>C (p.Glu3163Gln)
c.6082G>C (p.Glu2028Gln)
c.9319G>C (p.Glu3107Gln)
c.4492G>C (p.Glu1498Gln)
c.8G>C
n.4065G>C
c.9514G>C (p.Glu3172Gln)
c.9505G>C (p.Glu3169Gln)
c.9496G>C (p.Glu3166Gln)
c.9382G>C (p.Glu3128Gln)
c.9217G>C (p.Glu3073Gln)
c.7366G>C (p.Glu2456Gln)
c.5056G>C (p.Glu1686Gln)
n.9755G>C
18g.23949900G>TCA402051809LAMA3c.4660G>T (p.Glu1554Ter)
c.9487G>T (p.Glu3163Ter)
c.6082G>T (p.Glu2028Ter)
c.9319G>T (p.Glu3107Ter)
c.4492G>T (p.Glu1498Ter)
c.8G>T
n.4065G>T
c.9514G>T (p.Glu3172Ter)
c.9505G>T (p.Glu3169Ter)
c.9496G>T (p.Glu3166Ter)
c.9382G>T (p.Glu3128Ter)
c.9217G>T (p.Glu3073Ter)
c.7366G>T (p.Glu2456Ter)
c.5056G>T (p.Glu1686Ter)
n.9755G>T
18g.23949901A>CCA402051810LAMA3c.4661A>C (p.Glu1554Ala)
c.9488A>C (p.Glu3163Ala)
c.6083A>C (p.Glu2028Ala)
c.9320A>C (p.Glu3107Ala)
c.4493A>C (p.Glu1498Ala)
c.9A>C
n.4066A>C
c.9515A>C (p.Glu3172Ala)
c.9506A>C (p.Glu3169Ala)
c.9497A>C (p.Glu3166Ala)
c.9383A>C (p.Glu3128Ala)
c.9218A>C (p.Glu3073Ala)
c.7367A>C (p.Glu2456Ala)
c.5057A>C (p.Glu1686Ala)
n.9756A>C
18g.23949901A>GCA402051811LAMA3c.4661A>G (p.Glu1554Gly)
c.9488A>G (p.Glu3163Gly)
c.6083A>G (p.Glu2028Gly)
c.9320A>G (p.Glu3107Gly)
c.4493A>G (p.Glu1498Gly)
c.9A>G
n.4066A>G
c.9515A>G (p.Glu3172Gly)
c.9506A>G (p.Glu3169Gly)
c.9497A>G (p.Glu3166Gly)
c.9383A>G (p.Glu3128Gly)
c.9218A>G (p.Glu3073Gly)
c.7367A>G (p.Glu2456Gly)
c.5057A>G (p.Glu1686Gly)
n.9756A>G
18g.23949901A>TCA402051812LAMA3c.4661A>T (p.Glu1554Val)
c.9488A>T (p.Glu3163Val)
c.6083A>T (p.Glu2028Val)
c.9320A>T (p.Glu3107Val)
c.4493A>T (p.Glu1498Val)
c.9A>T
n.4066A>T
c.9515A>T (p.Glu3172Val)
c.9506A>T (p.Glu3169Val)
c.9497A>T (p.Glu3166Val)
c.9383A>T (p.Glu3128Val)
c.9218A>T (p.Glu3073Val)
c.7367A>T (p.Glu2456Val)
c.5057A>T (p.Glu1686Val)
n.9756A>T
18g.23949902A=CA2290343861LAMA3c.4662A= (p.Glu1554=)
c.9489A= (p.Glu3163=)
c.6084A= (p.Glu2028=)
c.9321A= (p.Glu3107=)
c.4494A= (p.Glu1498=)
c.10A=
n.4067A=
c.9516A= (p.Glu3172=)
c.9507A= (p.Glu3169=)
c.9498A= (p.Glu3166=)
c.9384A= (p.Glu3128=)
c.9219A= (p.Glu3073=)
c.7368A= (p.Glu2456=)
c.5058A= (p.Glu1686=)
n.9757A=
18g.23949902A>CCA402051813LAMA3c.4662A>C (p.Glu1554Asp)
c.9489A>C (p.Glu3163Asp)
c.6084A>C (p.Glu2028Asp)
c.9321A>C (p.Glu3107Asp)
c.4494A>C (p.Glu1498Asp)
c.10A>C
n.4067A>C
c.9516A>C (p.Glu3172Asp)
c.9507A>C (p.Glu3169Asp)
c.9498A>C (p.Glu3166Asp)
c.9384A>C (p.Glu3128Asp)
c.9219A>C (p.Glu3073Asp)
c.7368A>C (p.Glu2456Asp)
c.5058A>C (p.Glu1686Asp)
n.9757A>C
18g.23949902A>GCA503522757LAMA3c.4662A>G (p.Glu1554=)
c.9489A>G (p.Glu3163=)
c.6084A>G (p.Glu2028=)
c.9321A>G (p.Glu3107=)
c.4494A>G (p.Glu1498=)
c.10A>G
n.4067A>G
c.9516A>G (p.Glu3172=)
c.9507A>G (p.Glu3169=)
c.9498A>G (p.Glu3166=)
c.9384A>G (p.Glu3128=)
c.9219A>G (p.Glu3073=)
c.7368A>G (p.Glu2456=)
c.5058A>G (p.Glu1686=)
n.9757A>G
 dbSNP gnomAD v4
18g.23949902A>TCA402051814LAMA3c.4662A>T (p.Glu1554Asp)
c.9489A>T (p.Glu3163Asp)
c.6084A>T (p.Glu2028Asp)
c.9321A>T (p.Glu3107Asp)
c.4494A>T (p.Glu1498Asp)
c.10A>T
n.4067A>T
c.9516A>T (p.Glu3172Asp)
c.9507A>T (p.Glu3169Asp)
c.9498A>T (p.Glu3166Asp)
c.9384A>T (p.Glu3128Asp)
c.9219A>T (p.Glu3073Asp)
c.7368A>T (p.Glu2456Asp)
c.5058A>T (p.Glu1686Asp)
n.9757A>T
18g.23949903G>ACA297100234LAMA3c.4663G>A (p.Glu1555Lys)
c.9490G>A (p.Glu3164Lys)
c.6085G>A (p.Glu2029Lys)
c.9322G>A (p.Glu3108Lys)
c.4495G>A (p.Glu1499Lys)
c.11G>A
n.4068G>A
c.9517G>A (p.Glu3173Lys)
c.9508G>A (p.Glu3170Lys)
c.9499G>A (p.Glu3167Lys)
c.9385G>A (p.Glu3129Lys)
c.9220G>A (p.Glu3074Lys)
c.7369G>A (p.Glu2457Lys)
c.5059G>A (p.Glu1687Lys)
n.9758G>A
 dbSNP
18g.23949903G>CCA402051815LAMA3c.4663G>C (p.Glu1555Gln)
c.9490G>C (p.Glu3164Gln)
c.6085G>C (p.Glu2029Gln)
c.9322G>C (p.Glu3108Gln)
c.4495G>C (p.Glu1499Gln)
c.11G>C
n.4068G>C
c.9517G>C (p.Glu3173Gln)
c.9508G>C (p.Glu3170Gln)
c.9499G>C (p.Glu3167Gln)
c.9385G>C (p.Glu3129Gln)
c.9220G>C (p.Glu3074Gln)
c.7369G>C (p.Glu2457Gln)
c.5059G>C (p.Glu1687Gln)
n.9758G>C
18g.23949903G=CA2290343863LAMA3c.4663G= (p.Glu1555=)
c.9490G= (p.Glu3164=)
c.6085G= (p.Glu2029=)
c.9322G= (p.Glu3108=)
c.4495G= (p.Glu1499=)
c.11G=
n.4068G=
c.9517G= (p.Glu3173=)
c.9508G= (p.Glu3170=)
c.9499G= (p.Glu3167=)
c.9385G= (p.Glu3129=)
c.9220G= (p.Glu3074=)
c.7369G= (p.Glu2457=)
c.5059G= (p.Glu1687=)
n.9758G=
18g.23949903G>TCA402051816LAMA3c.4663G>T (p.Glu1555Ter)
c.9490G>T (p.Glu3164Ter)
c.6085G>T (p.Glu2029Ter)
c.9322G>T (p.Glu3108Ter)
c.4495G>T (p.Glu1499Ter)
c.11G>T
n.4068G>T
c.9517G>T (p.Glu3173Ter)
c.9508G>T (p.Glu3170Ter)
c.9499G>T (p.Glu3167Ter)
c.9385G>T (p.Glu3129Ter)
c.9220G>T (p.Glu3074Ter)
c.7369G>T (p.Glu2457Ter)
c.5059G>T (p.Glu1687Ter)
n.9758G>T
18g.23949904A=CA2290343866LAMA3c.4664A= (p.Glu1555=)
c.9491A= (p.Glu3164=)
c.6086A= (p.Glu2029=)
c.9323A= (p.Glu3108=)
c.4496A= (p.Glu1499=)
c.12A=
n.4069A=
c.9518A= (p.Glu3173=)
c.9509A= (p.Glu3170=)
c.9500A= (p.Glu3167=)
c.9386A= (p.Glu3129=)
c.9221A= (p.Glu3074=)
c.7370A= (p.Glu2457=)
c.5060A= (p.Glu1687=)
n.9759A=
18g.23949904A>CCA402051817LAMA3c.4664A>C (p.Glu1555Ala)
c.9491A>C (p.Glu3164Ala)
c.6086A>C (p.Glu2029Ala)
c.9323A>C (p.Glu3108Ala)
c.4496A>C (p.Glu1499Ala)
c.12A>C
n.4069A>C
c.9518A>C (p.Glu3173Ala)
c.9509A>C (p.Glu3170Ala)
c.9500A>C (p.Glu3167Ala)
c.9386A>C (p.Glu3129Ala)
c.9221A>C (p.Glu3074Ala)
c.7370A>C (p.Glu2457Ala)
c.5060A>C (p.Glu1687Ala)
n.9759A>C
18g.23949904A>GCA8917193LAMA3c.4664A>G (p.Glu1555Gly)
c.9491A>G (p.Glu3164Gly)
c.6086A>G (p.Glu2029Gly)
c.9323A>G (p.Glu3108Gly)
c.4496A>G (p.Glu1499Gly)
c.12A>G
n.4069A>G
c.9518A>G (p.Glu3173Gly)
c.9509A>G (p.Glu3170Gly)
c.9500A>G (p.Glu3167Gly)
c.9386A>G (p.Glu3129Gly)
c.9221A>G (p.Glu3074Gly)
c.7370A>G (p.Glu2457Gly)
c.5060A>G (p.Glu1687Gly)
n.9759A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949904A>TCA402051818LAMA3c.4664A>T (p.Glu1555Val)
c.9491A>T (p.Glu3164Val)
c.6086A>T (p.Glu2029Val)
c.9323A>T (p.Glu3108Val)
c.4496A>T (p.Glu1499Val)
c.12A>T
n.4069A>T
c.9518A>T (p.Glu3173Val)
c.9509A>T (p.Glu3170Val)
c.9500A>T (p.Glu3167Val)
c.9386A>T (p.Glu3129Val)
c.9221A>T (p.Glu3074Val)
c.7370A>T (p.Glu2457Val)
c.5060A>T (p.Glu1687Val)
n.9759A>T
18g.23949904_23949907delinsAAGGCA2290343867LAMA3c.4664_4667delinsAAGG (p.Glu1555=)
c.9491_9494delinsAAGG (p.Glu3164=)
c.6086_6089delinsAAGG (p.Glu2029=)
c.9323_9326delinsAAGG (p.Glu3108=)
c.4496_4499delinsAAGG (p.Glu1499=)
c.12_15delinsAAGG
n.4069_4072delinsAAGG
c.9518_9521delinsAAGG (p.Glu3173=)
c.9509_9512delinsAAGG (p.Glu3170=)
c.9500_9503delinsAAGG (p.Glu3167=)
c.9386_9389delinsAAGG (p.Glu3129=)
c.9221_9224delinsAAGG (p.Glu3074=)
c.7370_7373delinsAAGG (p.Glu2457=)
c.5060_5063delinsAAGG (p.Glu1687=)
n.9759_9762delinsAAGG
18g.23949905A>CCA402051819LAMA3c.4665A>C (p.Glu1555Asp)
c.9492A>C (p.Glu3164Asp)
c.6087A>C (p.Glu2029Asp)
c.9324A>C (p.Glu3108Asp)
c.4497A>C (p.Glu1499Asp)
c.13A>C
n.4070A>C
c.9519A>C (p.Glu3173Asp)
c.9510A>C (p.Glu3170Asp)
c.9501A>C (p.Glu3167Asp)
c.9387A>C (p.Glu3129Asp)
c.9222A>C (p.Glu3074Asp)
c.7371A>C (p.Glu2457Asp)
c.5061A>C (p.Glu1687Asp)
n.9760A>C
18g.23949905A>GCA503522766LAMA3c.4665A>G (p.Glu1555=)
c.9492A>G (p.Glu3164=)
c.6087A>G (p.Glu2029=)
c.9324A>G (p.Glu3108=)
c.4497A>G (p.Glu1499=)
c.13A>G
n.4070A>G
c.9519A>G (p.Glu3173=)
c.9510A>G (p.Glu3170=)
c.9501A>G (p.Glu3167=)
c.9387A>G (p.Glu3129=)
c.9222A>G (p.Glu3074=)
c.7371A>G (p.Glu2457=)
c.5061A>G (p.Glu1687=)
n.9760A>G
 ClinVar
18g.23949905A>TCA402051820LAMA3c.4665A>T (p.Glu1555Asp)
c.9492A>T (p.Glu3164Asp)
c.6087A>T (p.Glu2029Asp)
c.9324A>T (p.Glu3108Asp)
c.4497A>T (p.Glu1499Asp)
c.13A>T
n.4070A>T
c.9519A>T (p.Glu3173Asp)
c.9510A>T (p.Glu3170Asp)
c.9501A>T (p.Glu3167Asp)
c.9387A>T (p.Glu3129Asp)
c.9222A>T (p.Glu3074Asp)
c.7371A>T (p.Glu2457Asp)
c.5061A>T (p.Glu1687Asp)
n.9760A>T
18g.23949908_23949910delCA628979178LAMA3c.4668_4670del (p.Gly1557del)
c.9495_9497del (p.Gly3166del)
c.6090_6092del (p.Gly2031del)
c.9327_9329del (p.Gly3110del)
c.4500_4502del (p.Gly1501del)
c.16_18del
n.4073_4075del
c.9522_9524del (p.Gly3175del)
c.9513_9515del (p.Gly3172del)
c.9504_9506del (p.Gly3169del)
c.9390_9392del (p.Gly3131del)
c.9225_9227del (p.Gly3076del)
c.7374_7376del (p.Gly2459del)
c.5064_5066del (p.Gly1689del)
n.9763_9765del
 dbSNP gnomAD v2 gnomAD v4
18g.23949906G>ACA402051821LAMA3c.4666G>A (p.Gly1556Arg)
c.9493G>A (p.Gly3165Arg)
c.6088G>A (p.Gly2030Arg)
c.9325G>A (p.Gly3109Arg)
c.4498G>A (p.Gly1500Arg)
c.14G>A
n.4071G>A
c.9520G>A (p.Gly3174Arg)
c.9511G>A (p.Gly3171Arg)
c.9502G>A (p.Gly3168Arg)
c.9388G>A (p.Gly3130Arg)
c.9223G>A (p.Gly3075Arg)
c.7372G>A (p.Gly2458Arg)
c.5062G>A (p.Gly1688Arg)
n.9761G>A
18g.23949906G>CCA402051822LAMA3c.4666G>C (p.Gly1556Arg)
c.9493G>C (p.Gly3165Arg)
c.6088G>C (p.Gly2030Arg)
c.9325G>C (p.Gly3109Arg)
c.4498G>C (p.Gly1500Arg)
c.14G>C
n.4071G>C
c.9520G>C (p.Gly3174Arg)
c.9511G>C (p.Gly3171Arg)
c.9502G>C (p.Gly3168Arg)
c.9388G>C (p.Gly3130Arg)
c.9223G>C (p.Gly3075Arg)
c.7372G>C (p.Gly2458Arg)
c.5062G>C (p.Gly1688Arg)
n.9761G>C
18g.23949906G>TCA402051823LAMA3c.4666G>T (p.Gly1556Ter)
c.9493G>T (p.Gly3165Ter)
c.6088G>T (p.Gly2030Ter)
c.9325G>T (p.Gly3109Ter)
c.4498G>T (p.Gly1500Ter)
c.14G>T
n.4071G>T
c.9520G>T (p.Gly3174Ter)
c.9511G>T (p.Gly3171Ter)
c.9502G>T (p.Gly3168Ter)
c.9388G>T (p.Gly3130Ter)
c.9223G>T (p.Gly3075Ter)
c.7372G>T (p.Gly2458Ter)
c.5062G>T (p.Gly1688Ter)
n.9761G>T
18g.23949907G>ACA402051824LAMA3c.4667G>A (p.Gly1556Glu)
c.9494G>A (p.Gly3165Glu)
c.6089G>A (p.Gly2030Glu)
c.9326G>A (p.Gly3109Glu)
c.4499G>A (p.Gly1500Glu)
c.15G>A
n.4072G>A
c.9521G>A (p.Gly3174Glu)
c.9512G>A (p.Gly3171Glu)
c.9503G>A (p.Gly3168Glu)
c.9389G>A (p.Gly3130Glu)
c.9224G>A (p.Gly3075Glu)
c.7373G>A (p.Gly2458Glu)
c.5063G>A (p.Gly1688Glu)
n.9762G>A
18g.23949907G>CCA402051825LAMA3c.4667G>C (p.Gly1556Ala)
c.9494G>C (p.Gly3165Ala)
c.6089G>C (p.Gly2030Ala)
c.9326G>C (p.Gly3109Ala)
c.4499G>C (p.Gly1500Ala)
c.15G>C
n.4072G>C
c.9521G>C (p.Gly3174Ala)
c.9512G>C (p.Gly3171Ala)
c.9503G>C (p.Gly3168Ala)
c.9389G>C (p.Gly3130Ala)
c.9224G>C (p.Gly3075Ala)
c.7373G>C (p.Gly2458Ala)
c.5063G>C (p.Gly1688Ala)
n.9762G>C
18g.23949907G>TCA402051826LAMA3c.4667G>T (p.Gly1556Val)
c.9494G>T (p.Gly3165Val)
c.6089G>T (p.Gly2030Val)
c.9326G>T (p.Gly3109Val)
c.4499G>T (p.Gly1500Val)
c.15G>T
n.4072G>T
c.9521G>T (p.Gly3174Val)
c.9512G>T (p.Gly3171Val)
c.9503G>T (p.Gly3168Val)
c.9389G>T (p.Gly3130Val)
c.9224G>T (p.Gly3075Val)
c.7373G>T (p.Gly2458Val)
c.5063G>T (p.Gly1688Val)
n.9762G>T
 gnomAD v4
18g.23949908A>CCA503522770LAMA3c.4668A>C (p.Gly1556=)
c.9495A>C (p.Gly3165=)
c.6090A>C (p.Gly2030=)
c.9327A>C (p.Gly3109=)
c.4500A>C (p.Gly1500=)
c.16A>C
n.4073A>C
c.9522A>C (p.Gly3174=)
c.9513A>C (p.Gly3171=)
c.9504A>C (p.Gly3168=)
c.9390A>C (p.Gly3130=)
c.9225A>C (p.Gly3075=)
c.7374A>C (p.Gly2458=)
c.5064A>C (p.Gly1688=)
n.9763A>C
18g.23949908A>GCA503522771LAMA3c.4668A>G (p.Gly1556=)
c.9495A>G (p.Gly3165=)
c.6090A>G (p.Gly2030=)
c.9327A>G (p.Gly3109=)
c.4500A>G (p.Gly1500=)
c.16A>G
n.4073A>G
c.9522A>G (p.Gly3174=)
c.9513A>G (p.Gly3171=)
c.9504A>G (p.Gly3168=)
c.9390A>G (p.Gly3130=)
c.9225A>G (p.Gly3075=)
c.7374A>G (p.Gly2458=)
c.5064A>G (p.Gly1688=)
n.9763A>G
18g.23949908A>TCA503522772LAMA3c.4668A>T (p.Gly1556=)
c.9495A>T (p.Gly3165=)
c.6090A>T (p.Gly2030=)
c.9327A>T (p.Gly3109=)
c.4500A>T (p.Gly1500=)
c.16A>T
n.4073A>T
c.9522A>T (p.Gly3174=)
c.9513A>T (p.Gly3171=)
c.9504A>T (p.Gly3168=)
c.9390A>T (p.Gly3130=)
c.9225A>T (p.Gly3075=)
c.7374A>T (p.Gly2458=)
c.5064A>T (p.Gly1688=)
n.9763A>T
18g.23949909G>ACA402051827LAMA3c.4669G>A (p.Gly1557Ser)
c.9496G>A (p.Gly3166Ser)
c.6091G>A (p.Gly2031Ser)
c.9328G>A (p.Gly3110Ser)
c.4501G>A (p.Gly1501Ser)
c.17G>A
n.4074G>A
c.9523G>A (p.Gly3175Ser)
c.9514G>A (p.Gly3172Ser)
c.9505G>A (p.Gly3169Ser)
c.9391G>A (p.Gly3131Ser)
c.9226G>A (p.Gly3076Ser)
c.7375G>A (p.Gly2459Ser)
c.5065G>A (p.Gly1689Ser)
n.9764G>A
18g.23949909G>CCA402051828LAMA3c.4669G>C (p.Gly1557Arg)
c.9496G>C (p.Gly3166Arg)
c.6091G>C (p.Gly2031Arg)
c.9328G>C (p.Gly3110Arg)
c.4501G>C (p.Gly1501Arg)
c.17G>C
n.4074G>C
c.9523G>C (p.Gly3175Arg)
c.9514G>C (p.Gly3172Arg)
c.9505G>C (p.Gly3169Arg)
c.9391G>C (p.Gly3131Arg)
c.9226G>C (p.Gly3076Arg)
c.7375G>C (p.Gly2459Arg)
c.5065G>C (p.Gly1689Arg)
n.9764G>C
18g.23949909G>TCA402051829LAMA3c.4669G>T (p.Gly1557Cys)
c.9496G>T (p.Gly3166Cys)
c.6091G>T (p.Gly2031Cys)
c.9328G>T (p.Gly3110Cys)
c.4501G>T (p.Gly1501Cys)
c.17G>T
n.4074G>T
c.9523G>T (p.Gly3175Cys)
c.9514G>T (p.Gly3172Cys)
c.9505G>T (p.Gly3169Cys)
c.9391G>T (p.Gly3131Cys)
c.9226G>T (p.Gly3076Cys)
c.7375G>T (p.Gly2459Cys)
c.5065G>T (p.Gly1689Cys)
n.9764G>T
18g.23949910G>ACA402051830LAMA3c.4670G>A (p.Gly1557Asp)
c.9497G>A (p.Gly3166Asp)
c.6092G>A (p.Gly2031Asp)
c.9329G>A (p.Gly3110Asp)
c.4502G>A (p.Gly1501Asp)
c.18G>A
n.4075G>A
c.9524G>A (p.Gly3175Asp)
c.9515G>A (p.Gly3172Asp)
c.9506G>A (p.Gly3169Asp)
c.9392G>A (p.Gly3131Asp)
c.9227G>A (p.Gly3076Asp)
c.7376G>A (p.Gly2459Asp)
c.5066G>A (p.Gly1689Asp)
n.9765G>A
18g.23949910G>CCA402051831LAMA3c.4670G>C (p.Gly1557Ala)
c.9497G>C (p.Gly3166Ala)
c.6092G>C (p.Gly2031Ala)
c.9329G>C (p.Gly3110Ala)
c.4502G>C (p.Gly1501Ala)
c.18G>C
n.4075G>C
c.9524G>C (p.Gly3175Ala)
c.9515G>C (p.Gly3172Ala)
c.9506G>C (p.Gly3169Ala)
c.9392G>C (p.Gly3131Ala)
c.9227G>C (p.Gly3076Ala)
c.7376G>C (p.Gly2459Ala)
c.5066G>C (p.Gly1689Ala)
n.9765G>C
18g.23949910G=CA2290343874LAMA3c.4670G= (p.Gly1557=)
c.9497G= (p.Gly3166=)
c.6092G= (p.Gly2031=)
c.9329G= (p.Gly3110=)
c.4502G= (p.Gly1501=)
c.18G=
n.4075G=
c.9524G= (p.Gly3175=)
c.9515G= (p.Gly3172=)
c.9506G= (p.Gly3169=)
c.9392G= (p.Gly3131=)
c.9227G= (p.Gly3076=)
c.7376G= (p.Gly2459=)
c.5066G= (p.Gly1689=)
n.9765G=
18g.23949910G>TCA8917194LAMA3c.4670G>T (p.Gly1557Val)
c.9497G>T (p.Gly3166Val)
c.6092G>T (p.Gly2031Val)
c.9329G>T (p.Gly3110Val)
c.4502G>T (p.Gly1501Val)
c.18G>T
n.4075G>T
c.9524G>T (p.Gly3175Val)
c.9515G>T (p.Gly3172Val)
c.9506G>T (p.Gly3169Val)
c.9392G>T (p.Gly3131Val)
c.9227G>T (p.Gly3076Val)
c.7376G>T (p.Gly2459Val)
c.5066G>T (p.Gly1689Val)
n.9765G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949911delCA2576473392LAMA3c.4671del (p.His1558MetfsTer29)
c.9498del (p.His3167MetfsTer29)
c.6093del (p.His2032MetfsTer29)
c.9330del (p.His3111MetfsTer29)
c.4503del (p.His1502MetfsTer29)
c.19del
n.4076del
c.9525del (p.His3176MetfsTer29)
c.9516del (p.His3173MetfsTer29)
c.9507del (p.His3170MetfsTer29)
c.9393del (p.His3132MetfsTer29)
c.9228del (p.His3077MetfsTer29)
c.7377del (p.His2460MetfsTer29)
c.5067del (p.His1690MetfsTer29)
n.9766del
18g.23949911T>ACA503522742LAMA3c.4671T>A (p.Gly1557=)
c.9498T>A (p.Gly3166=)
c.6093T>A (p.Gly2031=)
c.9330T>A (p.Gly3110=)
c.4503T>A (p.Gly1501=)
c.19T>A
n.4076T>A
c.9525T>A (p.Gly3175=)
c.9516T>A (p.Gly3172=)
c.9507T>A (p.Gly3169=)
c.9393T>A (p.Gly3131=)
c.9228T>A (p.Gly3076=)
c.7377T>A (p.Gly2459=)
c.5067T>A (p.Gly1689=)
n.9766T>A
18g.23949911T>CCA503522744LAMA3c.4671T>C (p.Gly1557=)
c.9498T>C (p.Gly3166=)
c.6093T>C (p.Gly2031=)
c.9330T>C (p.Gly3110=)
c.4503T>C (p.Gly1501=)
c.19T>C
n.4076T>C
c.9525T>C (p.Gly3175=)
c.9516T>C (p.Gly3172=)
c.9507T>C (p.Gly3169=)
c.9393T>C (p.Gly3131=)
c.9228T>C (p.Gly3076=)
c.7377T>C (p.Gly2459=)
c.5067T>C (p.Gly1689=)
n.9766T>C
18g.23949911T>GCA503522745LAMA3c.4671T>G (p.Gly1557=)
c.9498T>G (p.Gly3166=)
c.6093T>G (p.Gly2031=)
c.9330T>G (p.Gly3110=)
c.4503T>G (p.Gly1501=)
c.19T>G
n.4076T>G
c.9525T>G (p.Gly3175=)
c.9516T>G (p.Gly3172=)
c.9507T>G (p.Gly3169=)
c.9393T>G (p.Gly3131=)
c.9228T>G (p.Gly3076=)
c.7377T>G (p.Gly2459=)
c.5067T>G (p.Gly1689=)
n.9766T>G
18g.23949912C>ACA402051833LAMA3c.4672C>A (p.His1558Asn)
c.9499C>A (p.His3167Asn)
c.6094C>A (p.His2032Asn)
c.9331C>A (p.His3111Asn)
c.4504C>A (p.His1502Asn)
c.20C>A
n.4077C>A
c.9526C>A (p.His3176Asn)
c.9517C>A (p.His3173Asn)
c.9508C>A (p.His3170Asn)
c.9394C>A (p.His3132Asn)
c.9229C>A (p.His3077Asn)
c.7378C>A (p.His2460Asn)
c.5068C>A (p.His1690Asn)
n.9767C>A
18g.23949912C>GCA402051834LAMA3c.4672C>G (p.His1558Asp)
c.9499C>G (p.His3167Asp)
c.6094C>G (p.His2032Asp)
c.9331C>G (p.His3111Asp)
c.4504C>G (p.His1502Asp)
c.20C>G
n.4077C>G
c.9526C>G (p.His3176Asp)
c.9517C>G (p.His3173Asp)
c.9508C>G (p.His3170Asp)
c.9394C>G (p.His3132Asp)
c.9229C>G (p.His3077Asp)
c.7378C>G (p.His2460Asp)
c.5068C>G (p.His1690Asp)
n.9767C>G
18g.23949912C>TCA402051832LAMA3c.4672C>T (p.His1558Tyr)
c.9499C>T (p.His3167Tyr)
c.6094C>T (p.His2032Tyr)
c.9331C>T (p.His3111Tyr)
c.4504C>T (p.His1502Tyr)
c.20C>T
n.4077C>T
c.9526C>T (p.His3176Tyr)
c.9517C>T (p.His3173Tyr)
c.9508C>T (p.His3170Tyr)
c.9394C>T (p.His3132Tyr)
c.9229C>T (p.His3077Tyr)
c.7378C>T (p.His2460Tyr)
c.5068C>T (p.His1690Tyr)
n.9767C>T
 gnomAD v4
18g.23949913A=CA2290343879LAMA3c.4673A= (p.His1558=)
c.9500A= (p.His3167=)
c.6095A= (p.His2032=)
c.9332A= (p.His3111=)
c.4505A= (p.His1502=)
c.21A=
n.4078A=
c.9527A= (p.His3176=)
c.9518A= (p.His3173=)
c.9509A= (p.His3170=)
c.9395A= (p.His3132=)
c.9230A= (p.His3077=)
c.7379A= (p.His2460=)
c.5069A= (p.His1690=)
n.9768A=
18g.23949913A>CCA402051835LAMA3c.4673A>C (p.His1558Pro)
c.9500A>C (p.His3167Pro)
c.6095A>C (p.His2032Pro)
c.9332A>C (p.His3111Pro)
c.4505A>C (p.His1502Pro)
c.21A>C
n.4078A>C
c.9527A>C (p.His3176Pro)
c.9518A>C (p.His3173Pro)
c.9509A>C (p.His3170Pro)
c.9395A>C (p.His3132Pro)
c.9230A>C (p.His3077Pro)
c.7379A>C (p.His2460Pro)
c.5069A>C (p.His1690Pro)
n.9768A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23949913A>GCA402051836LAMA3c.4673A>G (p.His1558Arg)
c.9500A>G (p.His3167Arg)
c.6095A>G (p.His2032Arg)
c.9332A>G (p.His3111Arg)
c.4505A>G (p.His1502Arg)
c.21A>G
n.4078A>G
c.9527A>G (p.His3176Arg)
c.9518A>G (p.His3173Arg)
c.9509A>G (p.His3170Arg)
c.9395A>G (p.His3132Arg)
c.9230A>G (p.His3077Arg)
c.7379A>G (p.His2460Arg)
c.5069A>G (p.His1690Arg)
n.9768A>G
 gnomAD v4
18g.23949913A>TCA402051837LAMA3c.4673A>T (p.His1558Leu)
c.9500A>T (p.His3167Leu)
c.6095A>T (p.His2032Leu)
c.9332A>T (p.His3111Leu)
c.4505A>T (p.His1502Leu)
c.21A>T
n.4078A>T
c.9527A>T (p.His3176Leu)
c.9518A>T (p.His3173Leu)
c.9509A>T (p.His3170Leu)
c.9395A>T (p.His3132Leu)
c.9230A>T (p.His3077Leu)
c.7379A>T (p.His2460Leu)
c.5069A>T (p.His1690Leu)
n.9768A>T
18g.23949914T>ACA402051838LAMA3c.4674T>A (p.His1558Gln)
c.9501T>A (p.His3167Gln)
c.6096T>A (p.His2032Gln)
c.9333T>A (p.His3111Gln)
c.4506T>A (p.His1502Gln)
c.22T>A
n.4079T>A
c.9528T>A (p.His3176Gln)
c.9519T>A (p.His3173Gln)
c.9510T>A (p.His3170Gln)
c.9396T>A (p.His3132Gln)
c.9231T>A (p.His3077Gln)
c.7380T>A (p.His2460Gln)
c.5070T>A (p.His1690Gln)
n.9769T>A
18g.23949914T>CCA503522747LAMA3c.4674T>C (p.His1558=)
c.9501T>C (p.His3167=)
c.6096T>C (p.His2032=)
c.9333T>C (p.His3111=)
c.4506T>C (p.His1502=)
c.22T>C
n.4079T>C
c.9528T>C (p.His3176=)
c.9519T>C (p.His3173=)
c.9510T>C (p.His3170=)
c.9396T>C (p.His3132=)
c.9231T>C (p.His3077=)
c.7380T>C (p.His2460=)
c.5070T>C (p.His1690=)
n.9769T>C
 ClinVar gnomAD v4
18g.23949914T>GCA402051839LAMA3c.4674T>G (p.His1558Gln)
c.9501T>G (p.His3167Gln)
c.6096T>G (p.His2032Gln)
c.9333T>G (p.His3111Gln)
c.4506T>G (p.His1502Gln)
c.22T>G
n.4079T>G
c.9528T>G (p.His3176Gln)
c.9519T>G (p.His3173Gln)
c.9510T>G (p.His3170Gln)
c.9396T>G (p.His3132Gln)
c.9231T>G (p.His3077Gln)
c.7380T>G (p.His2460Gln)
c.5070T>G (p.His1690Gln)
n.9769T>G
18g.23949914_23949917delinsTGTCCA2290343882LAMA3c.4674_4677delinsTGTC (p.His1558=)
c.9501_9504delinsTGTC (p.His3167=)
c.6096_6099delinsTGTC (p.His2032=)
c.9333_9336delinsTGTC (p.His3111=)
c.4506_4509delinsTGTC (p.His1502=)
c.22_25delinsTGTC
n.4079_4082delinsTGTC
c.9528_9531delinsTGTC (p.His3176=)
c.9519_9522delinsTGTC (p.His3173=)
c.9510_9513delinsTGTC (p.His3170=)
c.9396_9399delinsTGTC (p.His3132=)
c.9231_9234delinsTGTC (p.His3077=)
c.7380_7383delinsTGTC (p.His2460=)
c.5070_5073delinsTGTC (p.His1690=)
n.9769_9772delinsTGTC
18g.23949915G>ACA402051841LAMA3c.4675G>A (p.Val1559Ile)
c.9502G>A (p.Val3168Ile)
c.6097G>A (p.Val2033Ile)
c.9334G>A (p.Val3112Ile)
c.4507G>A (p.Val1503Ile)
c.23G>A
n.4080G>A
c.9529G>A (p.Val3177Ile)
c.9520G>A (p.Val3174Ile)
c.9511G>A (p.Val3171Ile)
c.9397G>A (p.Val3133Ile)
c.9232G>A (p.Val3078Ile)
c.7381G>A (p.Val2461Ile)
c.5071G>A (p.Val1691Ile)
n.9770G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.23949915G>CCA402051840LAMA3c.4675G>C (p.Val1559Leu)
c.9502G>C (p.Val3168Leu)
c.6097G>C (p.Val2033Leu)
c.9334G>C (p.Val3112Leu)
c.4507G>C (p.Val1503Leu)
c.23G>C
n.4080G>C
c.9529G>C (p.Val3177Leu)
c.9520G>C (p.Val3174Leu)
c.9511G>C (p.Val3171Leu)
c.9397G>C (p.Val3133Leu)
c.9232G>C (p.Val3078Leu)
c.7381G>C (p.Val2461Leu)
c.5071G>C (p.Val1691Leu)
n.9770G>C
18g.23949915G=CA2290343890LAMA3c.4675G= (p.Val1559=)
c.9502G= (p.Val3168=)
c.6097G= (p.Val2033=)
c.9334G= (p.Val3112=)
c.4507G= (p.Val1503=)
c.23G=
n.4080G=
c.9529G= (p.Val3177=)
c.9520G= (p.Val3174=)
c.9511G= (p.Val3171=)
c.9397G= (p.Val3133=)
c.9232G= (p.Val3078=)
c.7381G= (p.Val2461=)
c.5071G= (p.Val1691=)
n.9770G=
18g.23949915G>TCA8917196LAMA3c.4675G>T (p.Val1559Phe)
c.9502G>T (p.Val3168Phe)
c.6097G>T (p.Val2033Phe)
c.9334G>T (p.Val3112Phe)
c.4507G>T (p.Val1503Phe)
c.23G>T
n.4080G>T
c.9529G>T (p.Val3177Phe)
c.9520G>T (p.Val3174Phe)
c.9511G>T (p.Val3171Phe)
c.9397G>T (p.Val3133Phe)
c.9232G>T (p.Val3078Phe)
c.7381G>T (p.Val2461Phe)
c.5071G>T (p.Val1691Phe)
n.9770G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949918_23949920delCA8917195LAMA3c.4678_4680del (p.Val1560del)
c.9505_9507del (p.Val3169del)
c.6100_6102del (p.Val2034del)
c.9337_9339del (p.Val3113del)
c.4510_4512del (p.Val1504del)
c.26_28del
n.4083_4085del
c.9532_9534del (p.Val3178del)
c.9523_9525del (p.Val3175del)
c.9514_9516del (p.Val3172del)
c.9400_9402del (p.Val3134del)
c.9235_9237del (p.Val3079del)
c.7384_7386del (p.Val2462del)
c.5074_5076del (p.Val1692del)
n.9773_9775del
 dbSNP ExAC
18g.23949916T>ACA402051842LAMA3c.4676T>A (p.Val1559Asp)
c.9503T>A (p.Val3168Asp)
c.6098T>A (p.Val2033Asp)
c.9335T>A (p.Val3112Asp)
c.4508T>A (p.Val1503Asp)
c.24T>A
n.4081T>A
c.9530T>A (p.Val3177Asp)
c.9521T>A (p.Val3174Asp)
c.9512T>A (p.Val3171Asp)
c.9398T>A (p.Val3133Asp)
c.9233T>A (p.Val3078Asp)
c.7382T>A (p.Val2461Asp)
c.5072T>A (p.Val1691Asp)
n.9771T>A
18g.23949916T>CCA402051843LAMA3c.4676T>C (p.Val1559Ala)
c.9503T>C (p.Val3168Ala)
c.6098T>C (p.Val2033Ala)
c.9335T>C (p.Val3112Ala)
c.4508T>C (p.Val1503Ala)
c.24T>C
n.4081T>C
c.9530T>C (p.Val3177Ala)
c.9521T>C (p.Val3174Ala)
c.9512T>C (p.Val3171Ala)
c.9398T>C (p.Val3133Ala)
c.9233T>C (p.Val3078Ala)
c.7382T>C (p.Val2461Ala)
c.5072T>C (p.Val1691Ala)
n.9771T>C
18g.23949916T>GCA402051844LAMA3c.4676T>G (p.Val1559Gly)
c.9503T>G (p.Val3168Gly)
c.6098T>G (p.Val2033Gly)
c.9335T>G (p.Val3112Gly)
c.4508T>G (p.Val1503Gly)
c.24T>G
n.4081T>G
c.9530T>G (p.Val3177Gly)
c.9521T>G (p.Val3174Gly)
c.9512T>G (p.Val3171Gly)
c.9398T>G (p.Val3133Gly)
c.9233T>G (p.Val3078Gly)
c.7382T>G (p.Val2461Gly)
c.5072T>G (p.Val1691Gly)
n.9771T>G
18g.23949917C>ACA503522752LAMA3c.4677C>A (p.Val1559=)
c.9504C>A (p.Val3168=)
c.6099C>A (p.Val2033=)
c.9336C>A (p.Val3112=)
c.4509C>A (p.Val1503=)
c.25C>A
n.4082C>A
c.9531C>A (p.Val3177=)
c.9522C>A (p.Val3174=)
c.9513C>A (p.Val3171=)
c.9399C>A (p.Val3133=)
c.9234C>A (p.Val3078=)
c.7383C>A (p.Val2461=)
c.5073C>A (p.Val1691=)
n.9772C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23949917C=CA2290343894LAMA3c.4677C= (p.Val1559=)
c.9504C= (p.Val3168=)
c.6099C= (p.Val2033=)
c.9336C= (p.Val3112=)
c.4509C= (p.Val1503=)
c.25C=
n.4082C=
c.9531C= (p.Val3177=)
c.9522C= (p.Val3174=)
c.9513C= (p.Val3171=)
c.9399C= (p.Val3133=)
c.9234C= (p.Val3078=)
c.7383C= (p.Val2461=)
c.5073C= (p.Val1691=)
n.9772C=
18g.23949917C>GCA503522753LAMA3c.4677C>G (p.Val1559=)
c.9504C>G (p.Val3168=)
c.6099C>G (p.Val2033=)
c.9336C>G (p.Val3112=)
c.4509C>G (p.Val1503=)
c.25C>G
n.4082C>G
c.9531C>G (p.Val3177=)
c.9522C>G (p.Val3174=)
c.9513C>G (p.Val3171=)
c.9399C>G (p.Val3133=)
c.9234C>G (p.Val3078=)
c.7383C>G (p.Val2461=)
c.5073C>G (p.Val1691=)
n.9772C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23949917C>TCA8917197LAMA3c.4677C>T (p.Val1559=)
c.9504C>T (p.Val3168=)
c.6099C>T (p.Val2033=)
c.9336C>T (p.Val3112=)
c.4509C>T (p.Val1503=)
c.25C>T
n.4082C>T
c.9531C>T (p.Val3177=)
c.9522C>T (p.Val3174=)
c.9513C>T (p.Val3171=)
c.9399C>T (p.Val3133=)
c.9234C>T (p.Val3078=)
c.7383C>T (p.Val2461=)
c.5073C>T (p.Val1691=)
n.9772C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949918G>ACA8917198LAMA3c.4678G>A (p.Val1560Ile)
c.9505G>A (p.Val3169Ile)
c.6100G>A (p.Val2034Ile)
c.9337G>A (p.Val3113Ile)
c.4510G>A (p.Val1504Ile)
c.26G>A
n.4083G>A
c.9532G>A (p.Val3178Ile)
c.9523G>A (p.Val3175Ile)
c.9514G>A (p.Val3172Ile)
c.9400G>A (p.Val3134Ile)
c.9235G>A (p.Val3079Ile)
c.7384G>A (p.Val2462Ile)
c.5074G>A (p.Val1692Ile)
n.9773G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949918G>CCA8917199LAMA3c.4678G>C (p.Val1560Leu)
c.9505G>C (p.Val3169Leu)
c.6100G>C (p.Val2034Leu)
c.9337G>C (p.Val3113Leu)
c.4510G>C (p.Val1504Leu)
c.26G>C
n.4083G>C
c.9532G>C (p.Val3178Leu)
c.9523G>C (p.Val3175Leu)
c.9514G>C (p.Val3172Leu)
c.9400G>C (p.Val3134Leu)
c.9235G>C (p.Val3079Leu)
c.7384G>C (p.Val2462Leu)
c.5074G>C (p.Val1692Leu)
n.9773G>C
 dbSNP ExAC gnomAD v2
18g.23949918G=CA2290343901LAMA3c.4678G= (p.Val1560=)
c.9505G= (p.Val3169=)
c.6100G= (p.Val2034=)
c.9337G= (p.Val3113=)
c.4510G= (p.Val1504=)
c.26G=
n.4083G=
c.9532G= (p.Val3178=)
c.9523G= (p.Val3175=)
c.9514G= (p.Val3172=)
c.9400G= (p.Val3134=)
c.9235G= (p.Val3079=)
c.7384G= (p.Val2462=)
c.5074G= (p.Val1692=)
n.9773G=
18g.23949918G>TCA402051845LAMA3c.4678G>T (p.Val1560Phe)
c.9505G>T (p.Val3169Phe)
c.6100G>T (p.Val2034Phe)
c.9337G>T (p.Val3113Phe)
c.4510G>T (p.Val1504Phe)
c.26G>T
n.4083G>T
c.9532G>T (p.Val3178Phe)
c.9523G>T (p.Val3175Phe)
c.9514G>T (p.Val3172Phe)
c.9400G>T (p.Val3134Phe)
c.9235G>T (p.Val3079Phe)
c.7384G>T (p.Val2462Phe)
c.5074G>T (p.Val1692Phe)
n.9773G>T
18g.23949919T>ACA402051846LAMA3c.4679T>A (p.Val1560Asp)
c.9506T>A (p.Val3169Asp)
c.6101T>A (p.Val2034Asp)
c.9338T>A (p.Val3113Asp)
c.4511T>A (p.Val1504Asp)
c.27T>A
n.4084T>A
c.9533T>A (p.Val3178Asp)
c.9524T>A (p.Val3175Asp)
c.9515T>A (p.Val3172Asp)
c.9401T>A (p.Val3134Asp)
c.9236T>A (p.Val3079Asp)
c.7385T>A (p.Val2462Asp)
c.5075T>A (p.Val1692Asp)
n.9774T>A
18g.23949919T>CCA402051848LAMA3c.4679T>C (p.Val1560Ala)
c.9506T>C (p.Val3169Ala)
c.6101T>C (p.Val2034Ala)
c.9338T>C (p.Val3113Ala)
c.4511T>C (p.Val1504Ala)
c.27T>C
n.4084T>C
c.9533T>C (p.Val3178Ala)
c.9524T>C (p.Val3175Ala)
c.9515T>C (p.Val3172Ala)
c.9401T>C (p.Val3134Ala)
c.9236T>C (p.Val3079Ala)
c.7385T>C (p.Val2462Ala)
c.5075T>C (p.Val1692Ala)
n.9774T>C
18g.23949919T>GCA402051847LAMA3c.4679T>G (p.Val1560Gly)
c.9506T>G (p.Val3169Gly)
c.6101T>G (p.Val2034Gly)
c.9338T>G (p.Val3113Gly)
c.4511T>G (p.Val1504Gly)
c.27T>G
n.4084T>G
c.9533T>G (p.Val3178Gly)
c.9524T>G (p.Val3175Gly)
c.9515T>G (p.Val3172Gly)
c.9401T>G (p.Val3134Gly)
c.9236T>G (p.Val3079Gly)
c.7385T>G (p.Val2462Gly)
c.5075T>G (p.Val1692Gly)
n.9774T>G
18g.23949920C>ACA503522760LAMA3c.4680C>A (p.Val1560=)
c.9507C>A (p.Val3169=)
c.6102C>A (p.Val2034=)
c.9339C>A (p.Val3113=)
c.4512C>A (p.Val1504=)
c.28C>A
n.4085C>A
c.9534C>A (p.Val3178=)
c.9525C>A (p.Val3175=)
c.9516C>A (p.Val3172=)
c.9402C>A (p.Val3134=)
c.9237C>A (p.Val3079=)
c.7386C>A (p.Val2462=)
c.5076C>A (p.Val1692=)
n.9775C>A
18g.23949920C>GCA503522759LAMA3c.4680C>G (p.Val1560=)
c.9507C>G (p.Val3169=)
c.6102C>G (p.Val2034=)
c.9339C>G (p.Val3113=)
c.4512C>G (p.Val1504=)
c.28C>G
n.4085C>G
c.9534C>G (p.Val3178=)
c.9525C>G (p.Val3175=)
c.9516C>G (p.Val3172=)
c.9402C>G (p.Val3134=)
c.9237C>G (p.Val3079=)
c.7386C>G (p.Val2462=)
c.5076C>G (p.Val1692=)
n.9775C>G
18g.23949920C>TCA503522758LAMA3c.4680C>T (p.Val1560=)
c.9507C>T (p.Val3169=)
c.6102C>T (p.Val2034=)
c.9339C>T (p.Val3113=)
c.4512C>T (p.Val1504=)
c.28C>T
n.4085C>T
c.9534C>T (p.Val3178=)
c.9525C>T (p.Val3175=)
c.9516C>T (p.Val3172=)
c.9402C>T (p.Val3134=)
c.9237C>T (p.Val3079=)
c.7386C>T (p.Val2462=)
c.5076C>T (p.Val1692=)
n.9775C>T
18g.23949921T>ACA402051849LAMA3c.4681T>A (p.Leu1561Met)
c.9508T>A (p.Leu3170Met)
c.6103T>A (p.Leu2035Met)
c.9340T>A (p.Leu3114Met)
c.4513T>A (p.Leu1505Met)
c.29T>A
n.4086T>A
c.9535T>A (p.Leu3179Met)
c.9526T>A (p.Leu3176Met)
c.9517T>A (p.Leu3173Met)
c.9403T>A (p.Leu3135Met)
c.9238T>A (p.Leu3080Met)
c.7387T>A (p.Leu2463Met)
c.5077T>A (p.Leu1693Met)
n.9776T>A
18g.23949921T>CCA503522761LAMA3c.4681T>C (p.Leu1561=)
c.9508T>C (p.Leu3170=)
c.6103T>C (p.Leu2035=)
c.9340T>C (p.Leu3114=)
c.4513T>C (p.Leu1505=)
c.29T>C
n.4086T>C
c.9535T>C (p.Leu3179=)
c.9526T>C (p.Leu3176=)
c.9517T>C (p.Leu3173=)
c.9403T>C (p.Leu3135=)
c.9238T>C (p.Leu3080=)
c.7387T>C (p.Leu2463=)
c.5077T>C (p.Leu1693=)
n.9776T>C
18g.23949921T>GCA402051850LAMA3c.4681T>G (p.Leu1561Val)
c.9508T>G (p.Leu3170Val)
c.6103T>G (p.Leu2035Val)
c.9340T>G (p.Leu3114Val)
c.4513T>G (p.Leu1505Val)
c.29T>G
n.4086T>G
c.9535T>G (p.Leu3179Val)
c.9526T>G (p.Leu3176Val)
c.9517T>G (p.Leu3173Val)
c.9403T>G (p.Leu3135Val)
c.9238T>G (p.Leu3080Val)
c.7387T>G (p.Leu2463Val)
c.5077T>G (p.Leu1693Val)
n.9776T>G
18g.23949922T>ACA402051851LAMA3c.4682T>A (p.Leu1561Ter)
c.9509T>A (p.Leu3170Ter)
c.6104T>A (p.Leu2035Ter)
c.9341T>A (p.Leu3114Ter)
c.4514T>A (p.Leu1505Ter)
c.30T>A
n.4087T>A
c.9536T>A (p.Leu3179Ter)
c.9527T>A (p.Leu3176Ter)
c.9518T>A (p.Leu3173Ter)
c.9404T>A (p.Leu3135Ter)
c.9239T>A (p.Leu3080Ter)
c.7388T>A (p.Leu2463Ter)
c.5078T>A (p.Leu1693Ter)
n.9777T>A
18g.23949922T>CCA402051853LAMA3c.4682T>C (p.Leu1561Ser)
c.9509T>C (p.Leu3170Ser)
c.6104T>C (p.Leu2035Ser)
c.9341T>C (p.Leu3114Ser)
c.4514T>C (p.Leu1505Ser)
c.30T>C
n.4087T>C
c.9536T>C (p.Leu3179Ser)
c.9527T>C (p.Leu3176Ser)
c.9518T>C (p.Leu3173Ser)
c.9404T>C (p.Leu3135Ser)
c.9239T>C (p.Leu3080Ser)
c.7388T>C (p.Leu2463Ser)
c.5078T>C (p.Leu1693Ser)
n.9777T>C
18g.23949922T>GCA402051852LAMA3c.4682T>G (p.Leu1561Trp)
c.9509T>G (p.Leu3170Trp)
c.6104T>G (p.Leu2035Trp)
c.9341T>G (p.Leu3114Trp)
c.4514T>G (p.Leu1505Trp)
c.30T>G
n.4087T>G
c.9536T>G (p.Leu3179Trp)
c.9527T>G (p.Leu3176Trp)
c.9518T>G (p.Leu3173Trp)
c.9404T>G (p.Leu3135Trp)
c.9239T>G (p.Leu3080Trp)
c.7388T>G (p.Leu2463Trp)
c.5078T>G (p.Leu1693Trp)
n.9777T>G
18g.23949923G>ACA503522765LAMA3c.4683G>A (p.Leu1561=)
c.9510G>A (p.Leu3170=)
c.6105G>A (p.Leu2035=)
c.9342G>A (p.Leu3114=)
c.4515G>A (p.Leu1505=)
c.31G>A
n.4088G>A
c.9537G>A (p.Leu3179=)
c.9528G>A (p.Leu3176=)
c.9519G>A (p.Leu3173=)
c.9405G>A (p.Leu3135=)
c.9240G>A (p.Leu3080=)
c.7389G>A (p.Leu2463=)
c.5079G>A (p.Leu1693=)
n.9778G>A
18g.23949923G>CCA402051854LAMA3c.4683G>C (p.Leu1561Phe)
c.9510G>C (p.Leu3170Phe)
c.6105G>C (p.Leu2035Phe)
c.9342G>C (p.Leu3114Phe)
c.4515G>C (p.Leu1505Phe)
c.31G>C
n.4088G>C
c.9537G>C (p.Leu3179Phe)
c.9528G>C (p.Leu3176Phe)
c.9519G>C (p.Leu3173Phe)
c.9405G>C (p.Leu3135Phe)
c.9240G>C (p.Leu3080Phe)
c.7389G>C (p.Leu2463Phe)
c.5079G>C (p.Leu1693Phe)
n.9778G>C
18g.23949923G=CA2290343905LAMA3c.4683G= (p.Leu1561=)
c.9510G= (p.Leu3170=)
c.6105G= (p.Leu2035=)
c.9342G= (p.Leu3114=)
c.4515G= (p.Leu1505=)
c.31G=
n.4088G=
c.9537G= (p.Leu3179=)
c.9528G= (p.Leu3176=)
c.9519G= (p.Leu3173=)
c.9405G= (p.Leu3135=)
c.9240G= (p.Leu3080=)
c.7389G= (p.Leu2463=)
c.5079G= (p.Leu1693=)
n.9778G=
18g.23949923G>TCA402051855LAMA3c.4683G>T (p.Leu1561Phe)
c.9510G>T (p.Leu3170Phe)
c.6105G>T (p.Leu2035Phe)
c.9342G>T (p.Leu3114Phe)
c.4515G>T (p.Leu1505Phe)
c.31G>T
n.4088G>T
c.9537G>T (p.Leu3179Phe)
c.9528G>T (p.Leu3176Phe)
c.9519G>T (p.Leu3173Phe)
c.9405G>T (p.Leu3135Phe)
c.9240G>T (p.Leu3080Phe)
c.7389G>T (p.Leu2463Phe)
c.5079G>T (p.Leu1693Phe)
n.9778G>T
 dbSNP gnomAD v2 gnomAD v4
18g.23949924G>ACA402051856LAMA3c.4684G>A (p.Ala1562Thr)
c.9511G>A (p.Ala3171Thr)
c.6106G>A (p.Ala2036Thr)
c.9343G>A (p.Ala3115Thr)
c.4516G>A (p.Ala1506Thr)
c.32G>A
n.4089G>A
c.9538G>A (p.Ala3180Thr)
c.9529G>A (p.Ala3177Thr)
c.9520G>A (p.Ala3174Thr)
c.9406G>A (p.Ala3136Thr)
c.9241G>A (p.Ala3081Thr)
c.7390G>A (p.Ala2464Thr)
c.5080G>A (p.Ala1694Thr)
n.9779G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23949924G>CCA402051857LAMA3c.4684G>C (p.Ala1562Pro)
c.9511G>C (p.Ala3171Pro)
c.6106G>C (p.Ala2036Pro)
c.9343G>C (p.Ala3115Pro)
c.4516G>C (p.Ala1506Pro)
c.32G>C
n.4089G>C
c.9538G>C (p.Ala3180Pro)
c.9529G>C (p.Ala3177Pro)
c.9520G>C (p.Ala3174Pro)
c.9406G>C (p.Ala3136Pro)
c.9241G>C (p.Ala3081Pro)
c.7390G>C (p.Ala2464Pro)
c.5080G>C (p.Ala1694Pro)
n.9779G>C
18g.23949924G=CA2290343910LAMA3c.4684G= (p.Ala1562=)
c.9511G= (p.Ala3171=)
c.6106G= (p.Ala2036=)
c.9343G= (p.Ala3115=)
c.4516G= (p.Ala1506=)
c.32G=
n.4089G=
c.9538G= (p.Ala3180=)
c.9529G= (p.Ala3177=)
c.9520G= (p.Ala3174=)
c.9406G= (p.Ala3136=)
c.9241G= (p.Ala3081=)
c.7390G= (p.Ala2464=)
c.5080G= (p.Ala1694=)
n.9779G=
18g.23949924G>TCA8917200LAMA3c.4684G>T (p.Ala1562Ser)
c.9511G>T (p.Ala3171Ser)
c.6106G>T (p.Ala2036Ser)
c.9343G>T (p.Ala3115Ser)
c.4516G>T (p.Ala1506Ser)
c.32G>T
n.4089G>T
c.9538G>T (p.Ala3180Ser)
c.9529G>T (p.Ala3177Ser)
c.9520G>T (p.Ala3174Ser)
c.9406G>T (p.Ala3136Ser)
c.9241G>T (p.Ala3081Ser)
c.7390G>T (p.Ala2464Ser)
c.5080G>T (p.Ala1694Ser)
n.9779G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949925G>ACA402051858LAMA3c.4684+1G>A (n.4684+1G>A)
c.9511+1G>A (n.9511+1G>A)
c.6106+1G>A (n.6106+1G>A)
c.9343+1G>A (n.9343+1G>A)
c.4516+1G>A (n.4516+1G>A)
c.32+1G>A
n.4089+1G>A
c.9538+1G>A (n.9538+1G>A)
c.9529+1G>A (n.9529+1G>A)
c.9520+1G>A (n.9520+1G>A)
c.9406+1G>A (n.9406+1G>A)
c.9241+1G>A (n.9241+1G>A)
c.7390+1G>A (n.7390+1G>A)
c.5080+1G>A (n.5080+1G>A)
n.9779+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23949925G>CCA402051859LAMA3c.4684+1G>C (n.4684+1G>C)
c.9511+1G>C (n.9511+1G>C)
c.6106+1G>C (n.6106+1G>C)
c.9343+1G>C (n.9343+1G>C)
c.4516+1G>C (n.4516+1G>C)
c.32+1G>C
n.4089+1G>C
c.9538+1G>C (n.9538+1G>C)
c.9529+1G>C (n.9529+1G>C)
c.9520+1G>C (n.9520+1G>C)
c.9406+1G>C (n.9406+1G>C)
c.9241+1G>C (n.9241+1G>C)
c.7390+1G>C (n.7390+1G>C)
c.5080+1G>C (n.5080+1G>C)
n.9779+1G>C
 gnomAD v4
18g.23949925G=CA2290343918LAMA3c.4684+1G= (n.4684+1G=)
c.9511+1G= (n.9511+1G=)
c.6106+1G= (n.6106+1G=)
c.9343+1G= (n.9343+1G=)
c.4516+1G= (n.4516+1G=)
c.32+1G=
n.4089+1G=
c.9538+1G= (n.9538+1G=)
c.9529+1G= (n.9529+1G=)
c.9520+1G= (n.9520+1G=)
c.9406+1G= (n.9406+1G=)
c.9241+1G= (n.9241+1G=)
c.7390+1G= (n.7390+1G=)
c.5080+1G= (n.5080+1G=)
n.9779+1G=
18g.23949925G>TCA402051860LAMA3c.4684+1G>T (n.4684+1G>T)
c.9511+1G>T (n.9511+1G>T)
c.6106+1G>T (n.6106+1G>T)
c.9343+1G>T (n.9343+1G>T)
c.4516+1G>T (n.4516+1G>T)
c.32+1G>T
n.4089+1G>T
c.9538+1G>T (n.9538+1G>T)
c.9529+1G>T (n.9529+1G>T)
c.9520+1G>T (n.9520+1G>T)
c.9406+1G>T (n.9406+1G>T)
c.9241+1G>T (n.9241+1G>T)
c.7390+1G>T (n.7390+1G>T)
c.5080+1G>T (n.5080+1G>T)
n.9779+1G>T
 ClinVar
18g.23949926T>ACA402051861LAMA3c.4684+2T>A (n.4684+2T>A)
c.9511+2T>A (n.9511+2T>A)
c.6106+2T>A (n.6106+2T>A)
c.9343+2T>A (n.9343+2T>A)
c.4516+2T>A (n.4516+2T>A)
c.32+2T>A
n.4089+2T>A
c.9538+2T>A (n.9538+2T>A)
c.9529+2T>A (n.9529+2T>A)
c.9520+2T>A (n.9520+2T>A)
c.9406+2T>A (n.9406+2T>A)
c.9241+2T>A (n.9241+2T>A)
c.7390+2T>A (n.7390+2T>A)
c.5080+2T>A (n.5080+2T>A)
n.9779+2T>A
18g.23949926T>CCA402051862LAMA3c.4684+2T>C (n.4684+2T>C)
c.9511+2T>C (n.9511+2T>C)
c.6106+2T>C (n.6106+2T>C)
c.9343+2T>C (n.9343+2T>C)
c.4516+2T>C (n.4516+2T>C)
c.32+2T>C
n.4089+2T>C
c.9538+2T>C (n.9538+2T>C)
c.9529+2T>C (n.9529+2T>C)
c.9520+2T>C (n.9520+2T>C)
c.9406+2T>C (n.9406+2T>C)
c.9241+2T>C (n.9241+2T>C)
c.7390+2T>C (n.7390+2T>C)
c.5080+2T>C (n.5080+2T>C)
n.9779+2T>C
18g.23949926T>GCA402051863LAMA3c.4684+2T>G (n.4684+2T>G)
c.9511+2T>G (n.9511+2T>G)
c.6106+2T>G (n.6106+2T>G)
c.9343+2T>G (n.9343+2T>G)
c.4516+2T>G (n.4516+2T>G)
c.32+2T>G
n.4089+2T>G
c.9538+2T>G (n.9538+2T>G)
c.9529+2T>G (n.9529+2T>G)
c.9520+2T>G (n.9520+2T>G)
c.9406+2T>G (n.9406+2T>G)
c.9241+2T>G (n.9241+2T>G)
c.7390+2T>G (n.7390+2T>G)
c.5080+2T>G (n.5080+2T>G)
n.9779+2T>G
18g.23949930G>ACA2641299244LAMA3c.4684+6G>A (n.4684+6G>A)
c.9511+6G>A (n.9511+6G>A)
c.6106+6G>A (n.6106+6G>A)
c.9343+6G>A (n.9343+6G>A)
c.4516+6G>A (n.4516+6G>A)
c.32+6G>A
n.4089+6G>A
c.9538+6G>A (n.9538+6G>A)
c.9529+6G>A (n.9529+6G>A)
c.9520+6G>A (n.9520+6G>A)
c.9406+6G>A (n.9406+6G>A)
c.9241+6G>A (n.9241+6G>A)
c.7390+6G>A (n.7390+6G>A)
c.5080+6G>A (n.5080+6G>A)
n.9779+6G>A
 gnomAD v4
18g.23949931A>GCA2641299245LAMA3c.4684+7A>G (n.4684+7A>G)
c.9511+7A>G (n.9511+7A>G)
c.6106+7A>G (n.6106+7A>G)
c.9343+7A>G (n.9343+7A>G)
c.4516+7A>G (n.4516+7A>G)
c.32+7A>G
n.4089+7A>G
c.9538+7A>G (n.9538+7A>G)
c.9529+7A>G (n.9529+7A>G)
c.9520+7A>G (n.9520+7A>G)
c.9406+7A>G (n.9406+7A>G)
c.9241+7A>G (n.9241+7A>G)
c.7390+7A>G (n.7390+7A>G)
c.5080+7A>G (n.5080+7A>G)
n.9779+7A>G
 gnomAD v4
18g.23949931A>TCA2641299246LAMA3c.4684+7A>T (n.4684+7A>T)
c.9511+7A>T (n.9511+7A>T)
c.6106+7A>T (n.6106+7A>T)
c.9343+7A>T (n.9343+7A>T)
c.4516+7A>T (n.4516+7A>T)
c.32+7A>T
n.4089+7A>T
c.9538+7A>T (n.9538+7A>T)
c.9529+7A>T (n.9529+7A>T)
c.9520+7A>T (n.9520+7A>T)
c.9406+7A>T (n.9406+7A>T)
c.9241+7A>T (n.9241+7A>T)
c.7390+7A>T (n.7390+7A>T)
c.5080+7A>T (n.5080+7A>T)
n.9779+7A>T
 gnomAD v4
18g.23949932G>ACA8917201LAMA3c.4684+8G>A (n.4684+8G>A)
c.9511+8G>A (n.9511+8G>A)
c.6106+8G>A (n.6106+8G>A)
c.9343+8G>A (n.9343+8G>A)
c.4516+8G>A (n.4516+8G>A)
c.32+8G>A
n.4089+8G>A
c.9538+8G>A (n.9538+8G>A)
c.9529+8G>A (n.9529+8G>A)
c.9520+8G>A (n.9520+8G>A)
c.9406+8G>A (n.9406+8G>A)
c.9241+8G>A (n.9241+8G>A)
c.7390+8G>A (n.7390+8G>A)
c.5080+8G>A (n.5080+8G>A)
n.9779+8G>A
 dbSNP ExAC gnomAD v2
18g.23949932G=CA2290343922LAMA3c.4684+8G= (n.4684+8G=)
c.9511+8G= (n.9511+8G=)
c.6106+8G= (n.6106+8G=)
c.9343+8G= (n.9343+8G=)
c.4516+8G= (n.4516+8G=)
c.32+8G=
n.4089+8G=
c.9538+8G= (n.9538+8G=)
c.9529+8G= (n.9529+8G=)
c.9520+8G= (n.9520+8G=)
c.9406+8G= (n.9406+8G=)
c.9241+8G= (n.9241+8G=)
c.7390+8G= (n.7390+8G=)
c.5080+8G= (n.5080+8G=)
n.9779+8G=
18g.23949933C>ACA2573155150LAMA3c.4684+9C>A (n.4684+9C>A)
c.9511+9C>A (n.9511+9C>A)
c.6106+9C>A (n.6106+9C>A)
c.9343+9C>A (n.9343+9C>A)
c.4516+9C>A (n.4516+9C>A)
c.32+9C>A
n.4089+9C>A
c.9538+9C>A (n.9538+9C>A)
c.9529+9C>A (n.9529+9C>A)
c.9520+9C>A (n.9520+9C>A)
c.9406+9C>A (n.9406+9C>A)
c.9241+9C>A (n.9241+9C>A)
c.7390+9C>A (n.7390+9C>A)
c.5080+9C>A (n.5080+9C>A)
n.9779+9C>A
 ClinVar dbSNP
18g.23949933C=CA2290343924LAMA3c.4684+9C= (n.4684+9C=)
c.9511+9C= (n.9511+9C=)
c.6106+9C= (n.6106+9C=)
c.9343+9C= (n.9343+9C=)
c.4516+9C= (n.4516+9C=)
c.32+9C=
n.4089+9C=
c.9538+9C= (n.9538+9C=)
c.9529+9C= (n.9529+9C=)
c.9520+9C= (n.9520+9C=)
c.9406+9C= (n.9406+9C=)
c.9241+9C= (n.9241+9C=)
c.7390+9C= (n.7390+9C=)
c.5080+9C= (n.5080+9C=)
n.9779+9C=
18g.23949933C>GCA8917202LAMA3c.4684+9C>G (n.4684+9C>G)
c.9511+9C>G (n.9511+9C>G)
c.6106+9C>G (n.6106+9C>G)
c.9343+9C>G (n.9343+9C>G)
c.4516+9C>G (n.4516+9C>G)
c.32+9C>G
n.4089+9C>G
c.9538+9C>G (n.9538+9C>G)
c.9529+9C>G (n.9529+9C>G)
c.9520+9C>G (n.9520+9C>G)
c.9406+9C>G (n.9406+9C>G)
c.9241+9C>G (n.9241+9C>G)
c.7390+9C>G (n.7390+9C>G)
c.5080+9C>G (n.5080+9C>G)
n.9779+9C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949933C>TCA297100271LAMA3c.4684+9C>T (n.4684+9C>T)
c.9511+9C>T (n.9511+9C>T)
c.6106+9C>T (n.6106+9C>T)
c.9343+9C>T (n.9343+9C>T)
c.4516+9C>T (n.4516+9C>T)
c.32+9C>T
n.4089+9C>T
c.9538+9C>T (n.9538+9C>T)
c.9529+9C>T (n.9529+9C>T)
c.9520+9C>T (n.9520+9C>T)
c.9406+9C>T (n.9406+9C>T)
c.9241+9C>T (n.9241+9C>T)
c.7390+9C>T (n.7390+9C>T)
c.5080+9C>T (n.5080+9C>T)
n.9779+9C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23949935G>ACA8917203LAMA3c.4684+11G>A (n.4684+11G>A)
c.9511+11G>A (n.9511+11G>A)
c.6106+11G>A (n.6106+11G>A)
c.9343+11G>A (n.9343+11G>A)
c.4516+11G>A (n.4516+11G>A)
c.32+11G>A
n.4089+11G>A
c.9538+11G>A (n.9538+11G>A)
c.9529+11G>A (n.9529+11G>A)
c.9520+11G>A (n.9520+11G>A)
c.9406+11G>A (n.9406+11G>A)
c.9241+11G>A (n.9241+11G>A)
c.7390+11G>A (n.7390+11G>A)
c.5080+11G>A (n.5080+11G>A)
n.9779+11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949935G=CA2290343927LAMA3c.4684+11G= (n.4684+11G=)
c.9511+11G= (n.9511+11G=)
c.6106+11G= (n.6106+11G=)
c.9343+11G= (n.9343+11G=)
c.4516+11G= (n.4516+11G=)
c.32+11G=
n.4089+11G=
c.9538+11G= (n.9538+11G=)
c.9529+11G= (n.9529+11G=)
c.9520+11G= (n.9520+11G=)
c.9406+11G= (n.9406+11G=)
c.9241+11G= (n.9241+11G=)
c.7390+11G= (n.7390+11G=)
c.5080+11G= (n.5080+11G=)
n.9779+11G=
18g.23949935G>TCA2641299247LAMA3c.4684+11G>T (n.4684+11G>T)
c.9511+11G>T (n.9511+11G>T)
c.6106+11G>T (n.6106+11G>T)
c.9343+11G>T (n.9343+11G>T)
c.4516+11G>T (n.4516+11G>T)
c.32+11G>T
n.4089+11G>T
c.9538+11G>T (n.9538+11G>T)
c.9529+11G>T (n.9529+11G>T)
c.9520+11G>T (n.9520+11G>T)
c.9406+11G>T (n.9406+11G>T)
c.9241+11G>T (n.9241+11G>T)
c.7390+11G>T (n.7390+11G>T)
c.5080+11G>T (n.5080+11G>T)
n.9779+11G>T
 gnomAD v4
18g.23949940A=CA2290343929LAMA3c.4684+16A= (n.4684+16A=)
c.9511+16A= (n.9511+16A=)
c.6106+16A= (n.6106+16A=)
c.9343+16A= (n.9343+16A=)
c.4516+16A= (n.4516+16A=)
c.32+16A=
n.4089+16A=
c.9538+16A= (n.9538+16A=)
c.9529+16A= (n.9529+16A=)
c.9520+16A= (n.9520+16A=)
c.9406+16A= (n.9406+16A=)
c.9241+16A= (n.9241+16A=)
c.7390+16A= (n.7390+16A=)
c.5080+16A= (n.5080+16A=)
n.9779+16A=
18g.23949940A>GCA8917204LAMA3c.4684+16A>G (n.4684+16A>G)
c.9511+16A>G (n.9511+16A>G)
c.6106+16A>G (n.6106+16A>G)
c.9343+16A>G (n.9343+16A>G)
c.4516+16A>G (n.4516+16A>G)
c.32+16A>G
n.4089+16A>G
c.9538+16A>G (n.9538+16A>G)
c.9529+16A>G (n.9529+16A>G)
c.9520+16A>G (n.9520+16A>G)
c.9406+16A>G (n.9406+16A>G)
c.9241+16A>G (n.9241+16A>G)
c.7390+16A>G (n.7390+16A>G)
c.5080+16A>G (n.5080+16A>G)
n.9779+16A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949941T>ACA777748518LAMA3c.4684+17T>A (n.4684+17T>A)
c.9511+17T>A (n.9511+17T>A)
c.6106+17T>A (n.6106+17T>A)
c.9343+17T>A (n.9343+17T>A)
c.4516+17T>A (n.4516+17T>A)
c.32+17T>A
n.4089+17T>A
c.9538+17T>A (n.9538+17T>A)
c.9529+17T>A (n.9529+17T>A)
c.9520+17T>A (n.9520+17T>A)
c.9406+17T>A (n.9406+17T>A)
c.9241+17T>A (n.9241+17T>A)
c.7390+17T>A (n.7390+17T>A)
c.5080+17T>A (n.5080+17T>A)
n.9779+17T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23949941T>CCA8917205LAMA3c.4684+17T>C (n.4684+17T>C)
c.9511+17T>C (n.9511+17T>C)
c.6106+17T>C (n.6106+17T>C)
c.9343+17T>C (n.9343+17T>C)
c.4516+17T>C (n.4516+17T>C)
c.32+17T>C
n.4089+17T>C
c.9538+17T>C (n.9538+17T>C)
c.9529+17T>C (n.9529+17T>C)
c.9520+17T>C (n.9520+17T>C)
c.9406+17T>C (n.9406+17T>C)
c.9241+17T>C (n.9241+17T>C)
c.7390+17T>C (n.7390+17T>C)
c.5080+17T>C (n.5080+17T>C)
n.9779+17T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949941T=CA2290343932LAMA3c.4684+17T= (n.4684+17T=)
c.9511+17T= (n.9511+17T=)
c.6106+17T= (n.6106+17T=)
c.9343+17T= (n.9343+17T=)
c.4516+17T= (n.4516+17T=)
c.32+17T=
n.4089+17T=
c.9538+17T= (n.9538+17T=)
c.9529+17T= (n.9529+17T=)
c.9520+17T= (n.9520+17T=)
c.9406+17T= (n.9406+17T=)
c.9241+17T= (n.9241+17T=)
c.7390+17T= (n.7390+17T=)
c.5080+17T= (n.5080+17T=)
n.9779+17T=
18g.23949942A>GCA2641299248LAMA3c.4684+18A>G (n.4684+18A>G)
c.9511+18A>G (n.9511+18A>G)
c.6106+18A>G (n.6106+18A>G)
c.9343+18A>G (n.9343+18A>G)
c.4516+18A>G (n.4516+18A>G)
c.32+18A>G
n.4089+18A>G
c.9538+18A>G (n.9538+18A>G)
c.9529+18A>G (n.9529+18A>G)
c.9520+18A>G (n.9520+18A>G)
c.9406+18A>G (n.9406+18A>G)
c.9241+18A>G (n.9241+18A>G)
c.7390+18A>G (n.7390+18A>G)
c.5080+18A>G (n.5080+18A>G)
n.9779+18A>G
 ClinVar gnomAD v4
18g.23949945A>GCA2641299249LAMA3c.4684+21A>G (n.4684+21A>G)
c.9511+21A>G (n.9511+21A>G)
c.6106+21A>G (n.6106+21A>G)
c.9343+21A>G (n.9343+21A>G)
c.4516+21A>G (n.4516+21A>G)
c.32+21A>G
n.4089+21A>G
c.9538+21A>G (n.9538+21A>G)
c.9529+21A>G (n.9529+21A>G)
c.9520+21A>G (n.9520+21A>G)
c.9406+21A>G (n.9406+21A>G)
c.9241+21A>G (n.9241+21A>G)
c.7390+21A>G (n.7390+21A>G)
c.5080+21A>G (n.5080+21A>G)
n.9779+21A>G
 gnomAD v4
18g.23949946T>ACA777748526LAMA3c.4684+22T>A (n.4684+22T>A)
c.9511+22T>A (n.9511+22T>A)
c.6106+22T>A (n.6106+22T>A)
c.9343+22T>A (n.9343+22T>A)
c.4516+22T>A (n.4516+22T>A)
c.32+22T>A
n.4089+22T>A
c.9538+22T>A (n.9538+22T>A)
c.9529+22T>A (n.9529+22T>A)
c.9520+22T>A (n.9520+22T>A)
c.9406+22T>A (n.9406+22T>A)
c.9241+22T>A (n.9241+22T>A)
c.7390+22T>A (n.7390+22T>A)
c.5080+22T>A (n.5080+22T>A)
n.9779+22T>A
 dbSNP gnomAD v4
18g.23949946T>CCA2641299250LAMA3c.4684+22T>C (n.4684+22T>C)
c.9511+22T>C (n.9511+22T>C)
c.6106+22T>C (n.6106+22T>C)
c.9343+22T>C (n.9343+22T>C)
c.4516+22T>C (n.4516+22T>C)
c.32+22T>C
n.4089+22T>C
c.9538+22T>C (n.9538+22T>C)
c.9529+22T>C (n.9529+22T>C)
c.9520+22T>C (n.9520+22T>C)
c.9406+22T>C (n.9406+22T>C)
c.9241+22T>C (n.9241+22T>C)
c.7390+22T>C (n.7390+22T>C)
c.5080+22T>C (n.5080+22T>C)
n.9779+22T>C
 gnomAD v4
18g.23949946T=CA2290343935LAMA3c.4684+22T= (n.4684+22T=)
c.9511+22T= (n.9511+22T=)
c.6106+22T= (n.6106+22T=)
c.9343+22T= (n.9343+22T=)
c.4516+22T= (n.4516+22T=)
c.32+22T=
n.4089+22T=
c.9538+22T= (n.9538+22T=)
c.9529+22T= (n.9529+22T=)
c.9520+22T= (n.9520+22T=)
c.9406+22T= (n.9406+22T=)
c.9241+22T= (n.9241+22T=)
c.7390+22T= (n.7390+22T=)
c.5080+22T= (n.5080+22T=)
n.9779+22T=
18g.23949953C>ACA297100282LAMA3c.4684+29C>A (n.4684+29C>A)
c.9511+29C>A (n.9511+29C>A)
c.6106+29C>A (n.6106+29C>A)
c.9343+29C>A (n.9343+29C>A)
c.4516+29C>A (n.4516+29C>A)
c.32+29C>A
n.4089+29C>A
c.9538+29C>A (n.9538+29C>A)
c.9529+29C>A (n.9529+29C>A)
c.9520+29C>A (n.9520+29C>A)
c.9406+29C>A (n.9406+29C>A)
c.9241+29C>A (n.9241+29C>A)
c.7390+29C>A (n.7390+29C>A)
c.5080+29C>A (n.5080+29C>A)
n.9779+29C>A
 dbSNP gnomAD v4
18g.23949953C=CA2290343937LAMA3c.4684+29C= (n.4684+29C=)
c.9511+29C= (n.9511+29C=)
c.6106+29C= (n.6106+29C=)
c.9343+29C= (n.9343+29C=)
c.4516+29C= (n.4516+29C=)
c.32+29C=
n.4089+29C=
c.9538+29C= (n.9538+29C=)
c.9529+29C= (n.9529+29C=)
c.9520+29C= (n.9520+29C=)
c.9406+29C= (n.9406+29C=)
c.9241+29C= (n.9241+29C=)
c.7390+29C= (n.7390+29C=)
c.5080+29C= (n.5080+29C=)
n.9779+29C=
18g.23949955T>CCA2641299251LAMA3c.4684+31T>C (n.4684+31T>C)
c.9511+31T>C (n.9511+31T>C)
c.6106+31T>C (n.6106+31T>C)
c.9343+31T>C (n.9343+31T>C)
c.4516+31T>C (n.4516+31T>C)
c.32+31T>C
n.4089+31T>C
c.9538+31T>C (n.9538+31T>C)
c.9529+31T>C (n.9529+31T>C)
c.9520+31T>C (n.9520+31T>C)
c.9406+31T>C (n.9406+31T>C)
c.9241+31T>C (n.9241+31T>C)
c.7390+31T>C (n.7390+31T>C)
c.5080+31T>C (n.5080+31T>C)
n.9779+31T>C
 gnomAD v4
18g.23949955T>GCA8917206LAMA3c.4684+31T>G (n.4684+31T>G)
c.9511+31T>G (n.9511+31T>G)
c.6106+31T>G (n.6106+31T>G)
c.9343+31T>G (n.9343+31T>G)
c.4516+31T>G (n.4516+31T>G)
c.32+31T>G
n.4089+31T>G
c.9538+31T>G (n.9538+31T>G)
c.9529+31T>G (n.9529+31T>G)
c.9520+31T>G (n.9520+31T>G)
c.9406+31T>G (n.9406+31T>G)
c.9241+31T>G (n.9241+31T>G)
c.7390+31T>G (n.7390+31T>G)
c.5080+31T>G (n.5080+31T>G)
n.9779+31T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949955T=CA2290343940LAMA3c.4684+31T= (n.4684+31T=)
c.9511+31T= (n.9511+31T=)
c.6106+31T= (n.6106+31T=)
c.9343+31T= (n.9343+31T=)
c.4516+31T= (n.4516+31T=)
c.32+31T=
n.4089+31T=
c.9538+31T= (n.9538+31T=)
c.9529+31T= (n.9529+31T=)
c.9520+31T= (n.9520+31T=)
c.9406+31T= (n.9406+31T=)
c.9241+31T= (n.9241+31T=)
c.7390+31T= (n.7390+31T=)
c.5080+31T= (n.5080+31T=)
n.9779+31T=
18g.23949956T>GCA988413425LAMA3c.4684+32T>G (n.4684+32T>G)
c.9511+32T>G (n.9511+32T>G)
c.6106+32T>G (n.6106+32T>G)
c.9343+32T>G (n.9343+32T>G)
c.4516+32T>G (n.4516+32T>G)
c.32+32T>G
n.4089+32T>G
c.9538+32T>G (n.9538+32T>G)
c.9529+32T>G (n.9529+32T>G)
c.9520+32T>G (n.9520+32T>G)
c.9406+32T>G (n.9406+32T>G)
c.9241+32T>G (n.9241+32T>G)
c.7390+32T>G (n.7390+32T>G)
c.5080+32T>G (n.5080+32T>G)
n.9779+32T>G
 dbSNP gnomAD v3 gnomAD v4
18g.23949956T=CA2290343941LAMA3c.4684+32T= (n.4684+32T=)
c.9511+32T= (n.9511+32T=)
c.6106+32T= (n.6106+32T=)
c.9343+32T= (n.9343+32T=)
c.4516+32T= (n.4516+32T=)
c.32+32T=
n.4089+32T=
c.9538+32T= (n.9538+32T=)
c.9529+32T= (n.9529+32T=)
c.9520+32T= (n.9520+32T=)
c.9406+32T= (n.9406+32T=)
c.9241+32T= (n.9241+32T=)
c.7390+32T= (n.7390+32T=)
c.5080+32T= (n.5080+32T=)
n.9779+32T=
18g.23949957G=CA2290343944LAMA3c.4684+33G= (n.4684+33G=)
c.9511+33G= (n.9511+33G=)
c.6106+33G= (n.6106+33G=)
c.9343+33G= (n.9343+33G=)
c.4516+33G= (n.4516+33G=)
c.32+33G=
n.4089+33G=
c.9538+33G= (n.9538+33G=)
c.9529+33G= (n.9529+33G=)
c.9520+33G= (n.9520+33G=)
c.9406+33G= (n.9406+33G=)
c.9241+33G= (n.9241+33G=)
c.7390+33G= (n.7390+33G=)
c.5080+33G= (n.5080+33G=)
n.9779+33G=
18g.23949957G>TCA2290343943LAMA3c.4684+33G>T (n.4684+33G>T)
c.9511+33G>T (n.9511+33G>T)
c.6106+33G>T (n.6106+33G>T)
c.9343+33G>T (n.9343+33G>T)
c.4516+33G>T (n.4516+33G>T)
c.32+33G>T
n.4089+33G>T
c.9538+33G>T (n.9538+33G>T)
c.9529+33G>T (n.9529+33G>T)
c.9520+33G>T (n.9520+33G>T)
c.9406+33G>T (n.9406+33G>T)
c.9241+33G>T (n.9241+33G>T)
c.7390+33G>T (n.7390+33G>T)
c.5080+33G>T (n.5080+33G>T)
n.9779+33G>T
 dbSNP
18g.23949958C=CA2290343946LAMA3c.4684+34C= (n.4684+34C=)
c.9511+34C= (n.9511+34C=)
c.6106+34C= (n.6106+34C=)
c.9343+34C= (n.9343+34C=)
c.4516+34C= (n.4516+34C=)
c.32+34C=
n.4089+34C=
c.9538+34C= (n.9538+34C=)
c.9529+34C= (n.9529+34C=)
c.9520+34C= (n.9520+34C=)
c.9406+34C= (n.9406+34C=)
c.9241+34C= (n.9241+34C=)
c.7390+34C= (n.7390+34C=)
c.5080+34C= (n.5080+34C=)
n.9779+34C=
18g.23949958C>TCA988413432LAMA3c.4684+34C>T (n.4684+34C>T)
c.9511+34C>T (n.9511+34C>T)
c.6106+34C>T (n.6106+34C>T)
c.9343+34C>T (n.9343+34C>T)
c.4516+34C>T (n.4516+34C>T)
c.32+34C>T
n.4089+34C>T
c.9538+34C>T (n.9538+34C>T)
c.9529+34C>T (n.9529+34C>T)
c.9520+34C>T (n.9520+34C>T)
c.9406+34C>T (n.9406+34C>T)
c.9241+34C>T (n.9241+34C>T)
c.7390+34C>T (n.7390+34C>T)
c.5080+34C>T (n.5080+34C>T)
n.9779+34C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23949959A=CA2290343954LAMA3c.4684+35A= (n.4684+35A=)
c.9511+35A= (n.9511+35A=)
c.6106+35A= (n.6106+35A=)
c.9343+35A= (n.9343+35A=)
c.4516+35A= (n.4516+35A=)
c.32+35A=
n.4089+35A=
c.9538+35A= (n.9538+35A=)
c.9529+35A= (n.9529+35A=)
c.9520+35A= (n.9520+35A=)
c.9406+35A= (n.9406+35A=)
c.9241+35A= (n.9241+35A=)
c.7390+35A= (n.7390+35A=)
c.5080+35A= (n.5080+35A=)
n.9779+35A=
18g.23949959A>CCA8917208LAMA3c.4684+35A>C (n.4684+35A>C)
c.9511+35A>C (n.9511+35A>C)
c.6106+35A>C (n.6106+35A>C)
c.9343+35A>C (n.9343+35A>C)
c.4516+35A>C (n.4516+35A>C)
c.32+35A>C
n.4089+35A>C
c.9538+35A>C (n.9538+35A>C)
c.9529+35A>C (n.9529+35A>C)
c.9520+35A>C (n.9520+35A>C)
c.9406+35A>C (n.9406+35A>C)
c.9241+35A>C (n.9241+35A>C)
c.7390+35A>C (n.7390+35A>C)
c.5080+35A>C (n.5080+35A>C)
n.9779+35A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949959A>GCA297100290LAMA3c.4684+35A>G (n.4684+35A>G)
c.9511+35A>G (n.9511+35A>G)
c.6106+35A>G (n.6106+35A>G)
c.9343+35A>G (n.9343+35A>G)
c.4516+35A>G (n.4516+35A>G)
c.32+35A>G
n.4089+35A>G
c.9538+35A>G (n.9538+35A>G)
c.9529+35A>G (n.9529+35A>G)
c.9520+35A>G (n.9520+35A>G)
c.9406+35A>G (n.9406+35A>G)
c.9241+35A>G (n.9241+35A>G)
c.7390+35A>G (n.7390+35A>G)
c.5080+35A>G (n.5080+35A>G)
n.9779+35A>G
 dbSNP gnomAD v4
18g.23949959A>TCA628979188LAMA3c.4684+35A>T (n.4684+35A>T)
c.9511+35A>T (n.9511+35A>T)
c.6106+35A>T (n.6106+35A>T)
c.9343+35A>T (n.9343+35A>T)
c.4516+35A>T (n.4516+35A>T)
c.32+35A>T
n.4089+35A>T
c.9538+35A>T (n.9538+35A>T)
c.9529+35A>T (n.9529+35A>T)
c.9520+35A>T (n.9520+35A>T)
c.9406+35A>T (n.9406+35A>T)
c.9241+35A>T (n.9241+35A>T)
c.7390+35A>T (n.7390+35A>T)
c.5080+35A>T (n.5080+35A>T)
n.9779+35A>T
 dbSNP gnomAD v2 gnomAD v4
18g.23949959_23949960delinsATCA2290343953LAMA3c.4684+35_4684+36delinsAT (n.4684+35_4684+36delinsAT)
c.9511+35_9511+36delinsAT (n.9511+35_9511+36delinsAT)
c.6106+35_6106+36delinsAT (n.6106+35_6106+36delinsAT)
c.9343+35_9343+36delinsAT (n.9343+35_9343+36delinsAT)
c.4516+35_4516+36delinsAT (n.4516+35_4516+36delinsAT)
c.32+35_32+36delinsAT
n.4089+35_4089+36delinsAT
c.9538+35_9538+36delinsAT (n.9538+35_9538+36delinsAT)
c.9529+35_9529+36delinsAT (n.9529+35_9529+36delinsAT)
c.9520+35_9520+36delinsAT (n.9520+35_9520+36delinsAT)
c.9406+35_9406+36delinsAT (n.9406+35_9406+36delinsAT)
c.9241+35_9241+36delinsAT (n.9241+35_9241+36delinsAT)
c.7390+35_7390+36delinsAT (n.7390+35_7390+36delinsAT)
c.5080+35_5080+36delinsAT (n.5080+35_5080+36delinsAT)
n.9779+35_9779+36delinsAT
18g.23949960delCA8917207LAMA3c.4684+36del (n.4684+36del)
c.9511+36del (n.9511+36del)
c.6106+36del (n.6106+36del)
c.9343+36del (n.9343+36del)
c.4516+36del (n.4516+36del)
c.32+36del
n.4089+36del
c.9538+36del (n.9538+36del)
c.9529+36del (n.9529+36del)
c.9520+36del (n.9520+36del)
c.9406+36del (n.9406+36del)
c.9241+36del (n.9241+36del)
c.7390+36del (n.7390+36del)
c.5080+36del (n.5080+36del)
n.9779+36del
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23949960T>ACA2641299252LAMA3c.4684+36T>A (n.4684+36T>A)
c.9511+36T>A (n.9511+36T>A)
c.6106+36T>A (n.6106+36T>A)
c.9343+36T>A (n.9343+36T>A)
c.4516+36T>A (n.4516+36T>A)
c.32+36T>A
n.4089+36T>A
c.9538+36T>A (n.9538+36T>A)
c.9529+36T>A (n.9529+36T>A)
c.9520+36T>A (n.9520+36T>A)
c.9406+36T>A (n.9406+36T>A)
c.9241+36T>A (n.9241+36T>A)
c.7390+36T>A (n.7390+36T>A)
c.5080+36T>A (n.5080+36T>A)
n.9779+36T>A
 gnomAD v4
18g.23949963T>CCA297100295LAMA3c.4684+39T>C (n.4684+39T>C)
c.9511+39T>C (n.9511+39T>C)
c.6106+39T>C (n.6106+39T>C)
c.9343+39T>C (n.9343+39T>C)
c.4516+39T>C (n.4516+39T>C)
c.32+39T>C
n.4089+39T>C
c.9538+39T>C (n.9538+39T>C)
c.9529+39T>C (n.9529+39T>C)
c.9520+39T>C (n.9520+39T>C)
c.9406+39T>C (n.9406+39T>C)
c.9241+39T>C (n.9241+39T>C)
c.7390+39T>C (n.7390+39T>C)
c.5080+39T>C (n.5080+39T>C)
n.9779+39T>C
 dbSNP
18g.23949963T=CA2290343958LAMA3c.4684+39T= (n.4684+39T=)
c.9511+39T= (n.9511+39T=)
c.6106+39T= (n.6106+39T=)
c.9343+39T= (n.9343+39T=)
c.4516+39T= (n.4516+39T=)
c.32+39T=
n.4089+39T=
c.9538+39T= (n.9538+39T=)
c.9529+39T= (n.9529+39T=)
c.9520+39T= (n.9520+39T=)
c.9406+39T= (n.9406+39T=)
c.9241+39T= (n.9241+39T=)
c.7390+39T= (n.7390+39T=)
c.5080+39T= (n.5080+39T=)
n.9779+39T=
18g.23949964A=CA2290343960LAMA3c.4684+40A= (n.4684+40A=)
c.9511+40A= (n.9511+40A=)
c.6106+40A= (n.6106+40A=)
c.9343+40A= (n.9343+40A=)
c.4516+40A= (n.4516+40A=)
c.32+40A=
n.4089+40A=
c.9538+40A= (n.9538+40A=)
c.9529+40A= (n.9529+40A=)
c.9520+40A= (n.9520+40A=)
c.9406+40A= (n.9406+40A=)
c.9241+40A= (n.9241+40A=)
c.7390+40A= (n.7390+40A=)
c.5080+40A= (n.5080+40A=)
n.9779+40A=
18g.23949964A>GCA2641299254LAMA3c.4684+40A>G (n.4684+40A>G)
c.9511+40A>G (n.9511+40A>G)
c.6106+40A>G (n.6106+40A>G)
c.9343+40A>G (n.9343+40A>G)
c.4516+40A>G (n.4516+40A>G)
c.32+40A>G
n.4089+40A>G
c.9538+40A>G (n.9538+40A>G)
c.9529+40A>G (n.9529+40A>G)
c.9520+40A>G (n.9520+40A>G)
c.9406+40A>G (n.9406+40A>G)
c.9241+40A>G (n.9241+40A>G)
c.7390+40A>G (n.7390+40A>G)
c.5080+40A>G (n.5080+40A>G)
n.9779+40A>G
 gnomAD v4
18g.23949964A>TCA628979189LAMA3c.4684+40A>T (n.4684+40A>T)
c.9511+40A>T (n.9511+40A>T)
c.6106+40A>T (n.6106+40A>T)
c.9343+40A>T (n.9343+40A>T)
c.4516+40A>T (n.4516+40A>T)
c.32+40A>T
n.4089+40A>T
c.9538+40A>T (n.9538+40A>T)
c.9529+40A>T (n.9529+40A>T)
c.9520+40A>T (n.9520+40A>T)
c.9406+40A>T (n.9406+40A>T)
c.9241+40A>T (n.9241+40A>T)
c.7390+40A>T (n.7390+40A>T)
c.5080+40A>T (n.5080+40A>T)
n.9779+40A>T
 dbSNP gnomAD v2 gnomAD v4
18g.23949967_23950028delCA2641299253LAMA3c.4684+43_4685-1del (n.4684+43_4685-1del)
c.9511+43_9512-1del (n.9511+43_9512-1del)
c.6106+43_6107-1del (n.6106+43_6107-1del)
c.9343+43_9344-1del (n.9343+43_9344-1del)
c.4516+43_4517-1del (n.4516+43_4517-1del)
c.32+43_33-1del
n.4089+43_4090-1del
c.9538+43_9539-1del (n.9538+43_9539-1del)
c.9529+43_9530-1del (n.9529+43_9530-1del)
c.9520+43_9521-1del (n.9520+43_9521-1del)
c.9406+43_9407-1del (n.9406+43_9407-1del)
c.9241+43_9242-1del (n.9241+43_9242-1del)
c.7390+43_7391-1del (n.7390+43_7391-1del)
c.5080+43_5081-1del (n.5080+43_5081-1del)
n.9779+43_9780-1del
 gnomAD v4
18g.23949965A>CCA656921657LAMA3c.4684+41A>C (n.4684+41A>C)
c.9511+41A>C (n.9511+41A>C)
c.6106+41A>C (n.6106+41A>C)
c.9343+41A>C (n.9343+41A>C)
c.4516+41A>C (n.4516+41A>C)
c.32+41A>C
n.4089+41A>C
c.9538+41A>C (n.9538+41A>C)
c.9529+41A>C (n.9529+41A>C)
c.9520+41A>C (n.9520+41A>C)
c.9406+41A>C (n.9406+41A>C)
c.9241+41A>C (n.9241+41A>C)
c.7390+41A>C (n.7390+41A>C)
c.5080+41A>C (n.5080+41A>C)
n.9779+41A>C
 COSMIC
18g.23949966G>CCA8917209LAMA3c.4684+42G>C (n.4684+42G>C)
c.9511+42G>C (n.9511+42G>C)
c.6106+42G>C (n.6106+42G>C)
c.9343+42G>C (n.9343+42G>C)
c.4516+42G>C (n.4516+42G>C)
c.32+42G>C
n.4089+42G>C
c.9538+42G>C (n.9538+42G>C)
c.9529+42G>C (n.9529+42G>C)
c.9520+42G>C (n.9520+42G>C)
c.9406+42G>C (n.9406+42G>C)
c.9241+42G>C (n.9241+42G>C)
c.7390+42G>C (n.7390+42G>C)
c.5080+42G>C (n.5080+42G>C)
n.9779+42G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23949966G=CA2290343962LAMA3c.4684+42G= (n.4684+42G=)
c.9511+42G= (n.9511+42G=)
c.6106+42G= (n.6106+42G=)
c.9343+42G= (n.9343+42G=)
c.4516+42G= (n.4516+42G=)
c.32+42G=
n.4089+42G=
c.9538+42G= (n.9538+42G=)
c.9529+42G= (n.9529+42G=)
c.9520+42G= (n.9520+42G=)
c.9406+42G= (n.9406+42G=)
c.9241+42G= (n.9241+42G=)
c.7390+42G= (n.7390+42G=)
c.5080+42G= (n.5080+42G=)
n.9779+42G=
18g.23949968A>GCA2576473393LAMA3c.4684+44A>G (n.4684+44A>G)
c.9511+44A>G (n.9511+44A>G)
c.6106+44A>G (n.6106+44A>G)
c.9343+44A>G (n.9343+44A>G)
c.4516+44A>G (n.4516+44A>G)
c.32+44A>G
n.4089+44A>G
c.9538+44A>G (n.9538+44A>G)
c.9529+44A>G (n.9529+44A>G)
c.9520+44A>G (n.9520+44A>G)
c.9406+44A>G (n.9406+44A>G)
c.9241+44A>G (n.9241+44A>G)
c.7390+44A>G (n.7390+44A>G)
c.5080+44A>G (n.5080+44A>G)
n.9779+44A>G
18g.23949970T>CCA628979190LAMA3c.4684+46T>C (n.4684+46T>C)
c.9511+46T>C (n.9511+46T>C)
c.6106+46T>C (n.6106+46T>C)
c.9343+46T>C (n.9343+46T>C)
c.4516+46T>C (n.4516+46T>C)
c.32+46T>C
n.4089+46T>C
c.9538+46T>C (n.9538+46T>C)
c.9529+46T>C (n.9529+46T>C)
c.9520+46T>C (n.9520+46T>C)
c.9406+46T>C (n.9406+46T>C)
c.9241+46T>C (n.9241+46T>C)
c.7390+46T>C (n.7390+46T>C)
c.5080+46T>C (n.5080+46T>C)
n.9779+46T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23949970T=CA2290343964LAMA3c.4684+46T= (n.4684+46T=)
c.9511+46T= (n.9511+46T=)
c.6106+46T= (n.6106+46T=)
c.9343+46T= (n.9343+46T=)
c.4516+46T= (n.4516+46T=)
c.32+46T=
n.4089+46T=
c.9538+46T= (n.9538+46T=)
c.9529+46T= (n.9529+46T=)
c.9520+46T= (n.9520+46T=)
c.9406+46T= (n.9406+46T=)
c.9241+46T= (n.9241+46T=)
c.7390+46T= (n.7390+46T=)
c.5080+46T= (n.5080+46T=)
n.9779+46T=
18g.23949971G>ACA628979191LAMA3c.4684+47G>A (n.4684+47G>A)
c.9511+47G>A (n.9511+47G>A)
c.6106+47G>A (n.6106+47G>A)
c.9343+47G>A (n.9343+47G>A)
c.4516+47G>A (n.4516+47G>A)
c.32+47G>A
n.4089+47G>A
c.9538+47G>A (n.9538+47G>A)
c.9529+47G>A (n.9529+47G>A)
c.9520+47G>A (n.9520+47G>A)
c.9406+47G>A (n.9406+47G>A)
c.9241+47G>A (n.9241+47G>A)
c.7390+47G>A (n.7390+47G>A)
c.5080+47G>A (n.5080+47G>A)
n.9779+47G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23949971G=CA2290343966LAMA3c.4684+47G= (n.4684+47G=)
c.9511+47G= (n.9511+47G=)
c.6106+47G= (n.6106+47G=)
c.9343+47G= (n.9343+47G=)
c.4516+47G= (n.4516+47G=)
c.32+47G=
n.4089+47G=
c.9538+47G= (n.9538+47G=)
c.9529+47G= (n.9529+47G=)
c.9520+47G= (n.9520+47G=)
c.9406+47G= (n.9406+47G=)
c.9241+47G= (n.9241+47G=)
c.7390+47G= (n.7390+47G=)
c.5080+47G= (n.5080+47G=)
n.9779+47G=
18g.23949974_23949975delinsTCCA2290343968LAMA3c.4684+50_4684+51delinsTC (n.4684+50_4684+51delinsTC)
c.9511+50_9511+51delinsTC (n.9511+50_9511+51delinsTC)
c.6106+50_6106+51delinsTC (n.6106+50_6106+51delinsTC)
c.9343+50_9343+51delinsTC (n.9343+50_9343+51delinsTC)
c.4516+50_4516+51delinsTC (n.4516+50_4516+51delinsTC)
c.32+50_32+51delinsTC
n.4089+50_4089+51delinsTC
c.9538+50_9538+51delinsTC (n.9538+50_9538+51delinsTC)
c.9529+50_9529+51delinsTC (n.9529+50_9529+51delinsTC)
c.9520+50_9520+51delinsTC (n.9520+50_9520+51delinsTC)
c.9406+50_9406+51delinsTC (n.9406+50_9406+51delinsTC)
c.9241+50_9241+51delinsTC (n.9241+50_9241+51delinsTC)
c.7390+50_7390+51delinsTC (n.7390+50_7390+51delinsTC)
c.5080+50_5080+51delinsTC (n.5080+50_5080+51delinsTC)
n.9779+50_9779+51delinsTC
18g.23949975C>TCA2641299255LAMA3c.4684+51C>T (n.4684+51C>T)
c.9511+51C>T (n.9511+51C>T)
c.6106+51C>T (n.6106+51C>T)
c.9343+51C>T (n.9343+51C>T)
c.4516+51C>T (n.4516+51C>T)
c.32+51C>T
n.4089+51C>T
c.9538+51C>T (n.9538+51C>T)
c.9529+51C>T (n.9529+51C>T)
c.9520+51C>T (n.9520+51C>T)
c.9406+51C>T (n.9406+51C>T)
c.9241+51C>T (n.9241+51C>T)
c.7390+51C>T (n.7390+51C>T)
c.5080+51C>T (n.5080+51C>T)
n.9779+51C>T
 gnomAD v4
18g.23949976delCA988413440LAMA3c.4685-53del (n.4685-53del)
c.9512-53del (n.9512-53del)
c.6107-53del (n.6107-53del)
c.9344-53del (n.9344-53del)
c.4517-53del (n.4517-53del)
c.33-53del
n.4090-53del
c.9539-53del (n.9539-53del)
c.9530-53del (n.9530-53del)
c.9521-53del (n.9521-53del)
c.9407-53del (n.9407-53del)
c.9242-53del (n.9242-53del)
c.7391-53del (n.7391-53del)
c.5081-53del (n.5081-53del)
n.9780-53del
 dbSNP gnomAD v3 gnomAD v4
18g.23949976C>GCA2576473394LAMA3c.4685-53C>G (n.4685-53C>G)
c.9512-53C>G (n.9512-53C>G)
c.6107-53C>G (n.6107-53C>G)
c.9344-53C>G (n.9344-53C>G)
c.4517-53C>G (n.4517-53C>G)
c.33-53C>G
n.4090-53C>G
c.9539-53C>G (n.9539-53C>G)
c.9530-53C>G (n.9530-53C>G)
c.9521-53C>G (n.9521-53C>G)
c.9407-53C>G (n.9407-53C>G)
c.9242-53C>G (n.9242-53C>G)
c.7391-53C>G (n.7391-53C>G)
c.5081-53C>G (n.5081-53C>G)
n.9780-53C>G
18g.23949977T>CCA2641299256LAMA3c.4685-52T>C (n.4685-52T>C)
c.9512-52T>C (n.9512-52T>C)
c.6107-52T>C (n.6107-52T>C)
c.9344-52T>C (n.9344-52T>C)
c.4517-52T>C (n.4517-52T>C)
c.33-52T>C
n.4090-52T>C
c.9539-52T>C (n.9539-52T>C)
c.9530-52T>C (n.9530-52T>C)
c.9521-52T>C (n.9521-52T>C)
c.9407-52T>C (n.9407-52T>C)
c.9242-52T>C (n.9242-52T>C)
c.7391-52T>C (n.7391-52T>C)
c.5081-52T>C (n.5081-52T>C)
n.9780-52T>C
 gnomAD v4

Number of alleles fetched