| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129465244G>A | CA365622034 | LAMA2 | c.7255G>A (p.Asp2419Asn) c.7519G>A (p.Asp2507Asn) n.886G>A c.7252G>A (p.Asp2418Asn) c.7513G>A (p.Asp2505Asn) c.7525G>A (p.Asp2509Asn) c.5650G>A (p.Asp1884Asn) | |
| 6 | g.129465244G>C | CA365622030 | LAMA2 | c.7255G>C (p.Asp2419His) c.7519G>C (p.Asp2507His) n.886G>C c.7252G>C (p.Asp2418His) c.7513G>C (p.Asp2505His) c.7525G>C (p.Asp2509His) c.5650G>C (p.Asp1884His) | |
| 6 | g.129465244G>T | CA365622031 | LAMA2 | c.7255G>T (p.Asp2419Tyr) c.7519G>T (p.Asp2507Tyr) n.886G>T c.7252G>T (p.Asp2418Tyr) c.7513G>T (p.Asp2505Tyr) c.7525G>T (p.Asp2509Tyr) c.5650G>T (p.Asp1884Tyr) | |
| 6 | g.129465245A= | CA1663192670 | LAMA2 | c.7256A= (p.Asp2419=) c.7520A= (p.Asp2507=) n.887A= c.7253A= (p.Asp2418=) c.7514A= (p.Asp2505=) c.7526A= (p.Asp2509=) c.5651A= (p.Asp1884=) | |
| 6 | g.129465245A>C | CA365622037 | LAMA2 | c.7256A>C (p.Asp2419Ala) c.7520A>C (p.Asp2507Ala) n.887A>C c.7253A>C (p.Asp2418Ala) c.7514A>C (p.Asp2505Ala) c.7526A>C (p.Asp2509Ala) c.5651A>C (p.Asp1884Ala) | |
| 6 | g.129465245A>G | CA365622039 | LAMA2 | c.7256A>G (p.Asp2419Gly) c.7520A>G (p.Asp2507Gly) n.887A>G c.7253A>G (p.Asp2418Gly) c.7514A>G (p.Asp2505Gly) c.7526A>G (p.Asp2509Gly) c.5651A>G (p.Asp1884Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465245A>T | CA365622041 | LAMA2 | c.7256A>T (p.Asp2419Val) c.7520A>T (p.Asp2507Val) n.887A>T c.7253A>T (p.Asp2418Val) c.7514A>T (p.Asp2505Val) c.7526A>T (p.Asp2509Val) c.5651A>T (p.Asp1884Val) | COSMIC |
| 6 | g.129465246T>A | CA365622044 | LAMA2 | c.7257T>A (p.Asp2419Glu) c.7521T>A (p.Asp2507Glu) n.888T>A c.7254T>A (p.Asp2418Glu) c.7515T>A (p.Asp2505Glu) c.7527T>A (p.Asp2509Glu) c.5652T>A (p.Asp1884Glu) | |
| 6 | g.129465246T>C | CA451926472 | LAMA2 | c.7257T>C (p.Asp2419=) c.7521T>C (p.Asp2507=) n.888T>C c.7254T>C (p.Asp2418=) c.7515T>C (p.Asp2505=) c.7527T>C (p.Asp2509=) c.5652T>C (p.Asp1884=) | |
| 6 | g.129465246T>G | CA365622046 | LAMA2 | c.7257T>G (p.Asp2419Glu) c.7521T>G (p.Asp2507Glu) n.888T>G c.7254T>G (p.Asp2418Glu) c.7515T>G (p.Asp2505Glu) c.7527T>G (p.Asp2509Glu) c.5652T>G (p.Asp1884Glu) | |
| 6 | g.129465247G>A | CA365622049 | LAMA2 | c.7258G>A (p.Gly2420Arg) c.7522G>A (p.Gly2508Arg) n.889G>A c.7255G>A (p.Gly2419Arg) c.7516G>A (p.Gly2506Arg) c.7528G>A (p.Gly2510Arg) c.5653G>A (p.Gly1885Arg) | |
| 6 | g.129465247G>C | CA365622054 | LAMA2 | c.7258G>C (p.Gly2420Arg) c.7522G>C (p.Gly2508Arg) n.889G>C c.7255G>C (p.Gly2419Arg) c.7516G>C (p.Gly2506Arg) c.7528G>C (p.Gly2510Arg) c.5653G>C (p.Gly1885Arg) | |
| 6 | g.129465247G>T | CA365622051 | LAMA2 | c.7258G>T (p.Gly2420Trp) c.7522G>T (p.Gly2508Trp) n.889G>T c.7255G>T (p.Gly2419Trp) c.7516G>T (p.Gly2506Trp) c.7528G>T (p.Gly2510Trp) c.5653G>T (p.Gly1885Trp) | |
| 6 | g.129465248G>A | CA365622057 | LAMA2 | c.7259G>A (p.Gly2420Glu) c.7523G>A (p.Gly2508Glu) n.890G>A c.7256G>A (p.Gly2419Glu) c.7517G>A (p.Gly2506Glu) c.7529G>A (p.Gly2510Glu) c.5654G>A (p.Gly1885Glu) | |
| 6 | g.129465248G>C | CA365622059 | LAMA2 | c.7259G>C (p.Gly2420Ala) c.7523G>C (p.Gly2508Ala) n.890G>C c.7256G>C (p.Gly2419Ala) c.7517G>C (p.Gly2506Ala) c.7529G>C (p.Gly2510Ala) c.5654G>C (p.Gly1885Ala) | |
| 6 | g.129465248G>T | CA365622063 | LAMA2 | c.7259G>T (p.Gly2420Val) c.7523G>T (p.Gly2508Val) n.890G>T c.7256G>T (p.Gly2419Val) c.7517G>T (p.Gly2506Val) c.7529G>T (p.Gly2510Val) c.5654G>T (p.Gly1885Val) | |
| 6 | g.129465249G>A | CA451926473 | LAMA2 | c.7260G>A (p.Gly2420=) c.7524G>A (p.Gly2508=) n.891G>A c.7257G>A (p.Gly2419=) c.7518G>A (p.Gly2506=) c.7530G>A (p.Gly2510=) c.5655G>A (p.Gly1885=) | |
| 6 | g.129465249G>C | CA451926475 | LAMA2 | c.7260G>C (p.Gly2420=) c.7524G>C (p.Gly2508=) n.891G>C c.7257G>C (p.Gly2419=) c.7518G>C (p.Gly2506=) c.7530G>C (p.Gly2510=) c.5655G>C (p.Gly1885=) | |
| 6 | g.129465249G>T | CA451926474 | LAMA2 | c.7260G>T (p.Gly2420=) c.7524G>T (p.Gly2508=) n.891G>T c.7257G>T (p.Gly2419=) c.7518G>T (p.Gly2506=) c.7530G>T (p.Gly2510=) c.5655G>T (p.Gly1885=) | |
| 6 | g.129465250A>C | CA365622065 | LAMA2 | c.7261A>C (p.Lys2421Gln) c.7525A>C (p.Lys2509Gln) n.892A>C c.7258A>C (p.Lys2420Gln) c.7519A>C (p.Lys2507Gln) c.7531A>C (p.Lys2511Gln) c.5656A>C (p.Lys1886Gln) | |
| 6 | g.129465250A>G | CA365622066 | LAMA2 | c.7261A>G (p.Lys2421Glu) c.7525A>G (p.Lys2509Glu) n.892A>G c.7258A>G (p.Lys2420Glu) c.7519A>G (p.Lys2507Glu) c.7531A>G (p.Lys2511Glu) c.5656A>G (p.Lys1886Glu) | |
| 6 | g.129465250A>T | CA365622068 | LAMA2 | c.7261A>T (p.Lys2421Ter) c.7525A>T (p.Lys2509Ter) n.892A>T c.7258A>T (p.Lys2420Ter) c.7519A>T (p.Lys2507Ter) c.7531A>T (p.Lys2511Ter) c.5656A>T (p.Lys1886Ter) | |
| 6 | g.129465251A= | CA1663192673 | LAMA2 | c.7262A= (p.Lys2421=) c.7526A= (p.Lys2509=) n.893A= c.7259A= (p.Lys2420=) c.7520A= (p.Lys2507=) c.7532A= (p.Lys2511=) c.5657A= (p.Lys1886=) | |
| 6 | g.129465251A>C | CA365622073 | LAMA2 | c.7262A>C (p.Lys2421Thr) c.7526A>C (p.Lys2509Thr) n.893A>C c.7259A>C (p.Lys2420Thr) c.7520A>C (p.Lys2507Thr) c.7532A>C (p.Lys2511Thr) c.5657A>C (p.Lys1886Thr) | |
| 6 | g.129465251A>G | CA365622074 | LAMA2 | c.7262A>G (p.Lys2421Arg) c.7526A>G (p.Lys2509Arg) n.893A>G c.7259A>G (p.Lys2420Arg) c.7520A>G (p.Lys2507Arg) c.7532A>G (p.Lys2511Arg) c.5657A>G (p.Lys1886Arg) | ClinVar dbSNP |
| 6 | g.129465251A>T | CA365622076 | LAMA2 | c.7262A>T (p.Lys2421Ile) c.7526A>T (p.Lys2509Ile) n.893A>T c.7259A>T (p.Lys2420Ile) c.7520A>T (p.Lys2507Ile) c.7532A>T (p.Lys2511Ile) c.5657A>T (p.Lys1886Ile) | |
| 6 | g.129465252A>C | CA365622078 | LAMA2 | c.7263A>C (p.Lys2421Asn) c.7527A>C (p.Lys2509Asn) n.894A>C c.7260A>C (p.Lys2420Asn) c.7521A>C (p.Lys2507Asn) c.7533A>C (p.Lys2511Asn) c.5658A>C (p.Lys1886Asn) | |
| 6 | g.129465252A>G | CA451926476 | LAMA2 | c.7263A>G (p.Lys2421=) c.7527A>G (p.Lys2509=) n.894A>G c.7260A>G (p.Lys2420=) c.7521A>G (p.Lys2507=) c.7533A>G (p.Lys2511=) c.5658A>G (p.Lys1886=) | gnomAD v4 |
| 6 | g.129465252A>T | CA365622081 | LAMA2 | c.7263A>T (p.Lys2421Asn) c.7527A>T (p.Lys2509Asn) n.894A>T c.7260A>T (p.Lys2420Asn) c.7521A>T (p.Lys2507Asn) c.7533A>T (p.Lys2511Asn) c.5658A>T (p.Lys1886Asn) | |
| 6 | g.129465253T>A | CA365622084 | LAMA2 | c.7264T>A (p.Trp2422Arg) c.7528T>A (p.Trp2510Arg) n.895T>A c.7261T>A (p.Trp2421Arg) c.7522T>A (p.Trp2508Arg) c.7534T>A (p.Trp2512Arg) c.5659T>A (p.Trp1887Arg) | |
| 6 | g.129465253T>C | CA365622090 | LAMA2 | c.7264T>C (p.Trp2422Arg) c.7528T>C (p.Trp2510Arg) n.895T>C c.7261T>C (p.Trp2421Arg) c.7522T>C (p.Trp2508Arg) c.7534T>C (p.Trp2512Arg) c.5659T>C (p.Trp1887Arg) | gnomAD v4 |
| 6 | g.129465253T>G | CA365622086 | LAMA2 | c.7264T>G (p.Trp2422Gly) c.7528T>G (p.Trp2510Gly) n.895T>G c.7261T>G (p.Trp2421Gly) c.7522T>G (p.Trp2508Gly) c.7534T>G (p.Trp2512Gly) c.5659T>G (p.Trp1887Gly) | |
| 6 | g.129465254G>A | CA365622092 | LAMA2 | c.7265G>A (p.Trp2422Ter) c.7529G>A (p.Trp2510Ter) n.896G>A c.7262G>A (p.Trp2421Ter) c.7523G>A (p.Trp2508Ter) c.7535G>A (p.Trp2512Ter) c.5660G>A (p.Trp1887Ter) | ClinVar gnomAD v4 |
| 6 | g.129465254G>C | CA365622095 | LAMA2 | c.7265G>C (p.Trp2422Ser) c.7529G>C (p.Trp2510Ser) n.896G>C c.7262G>C (p.Trp2421Ser) c.7523G>C (p.Trp2508Ser) c.7535G>C (p.Trp2512Ser) c.5660G>C (p.Trp1887Ser) | |
| 6 | g.129465254G>T | CA365622096 | LAMA2 | c.7265G>T (p.Trp2422Leu) c.7529G>T (p.Trp2510Leu) n.896G>T c.7262G>T (p.Trp2421Leu) c.7523G>T (p.Trp2508Leu) c.7535G>T (p.Trp2512Leu) c.5660G>T (p.Trp1887Leu) | |
| 6 | g.129465255G>A | CA365622099 | LAMA2 | c.7266G>A (p.Trp2422Ter) c.7530G>A (p.Trp2510Ter) n.897G>A c.7263G>A (p.Trp2421Ter) c.7524G>A (p.Trp2508Ter) c.7536G>A (p.Trp2512Ter) c.5661G>A (p.Trp1887Ter) | ClinVar dbSNP |
| 6 | g.129465255G>C | CA365622101 | LAMA2 | c.7266G>C (p.Trp2422Cys) c.7530G>C (p.Trp2510Cys) n.897G>C c.7263G>C (p.Trp2421Cys) c.7524G>C (p.Trp2508Cys) c.7536G>C (p.Trp2512Cys) c.5661G>C (p.Trp1887Cys) | |
| 6 | g.129465255G= | CA1663192676 | LAMA2 | c.7266G= (p.Trp2422=) c.7530G= (p.Trp2510=) n.897G= c.7263G= (p.Trp2421=) c.7524G= (p.Trp2508=) c.7536G= (p.Trp2512=) c.5661G= (p.Trp1887=) | |
| 6 | g.129465255G>T | CA365622103 | LAMA2 | c.7266G>T (p.Trp2422Cys) c.7530G>T (p.Trp2510Cys) n.897G>T c.7263G>T (p.Trp2421Cys) c.7524G>T (p.Trp2508Cys) c.7536G>T (p.Trp2512Cys) c.5661G>T (p.Trp1887Cys) | |
| 6 | g.129465256A= | CA1663192678 | LAMA2 | c.7267A= (p.Lys2423=) c.7531A= (p.Lys2511=) n.898A= c.7264A= (p.Lys2422=) c.7525A= (p.Lys2509=) c.7537A= (p.Lys2513=) c.5662A= (p.Lys1888=) | |
| 6 | g.129465256A>C | CA365622104 | LAMA2 | c.7267A>C (p.Lys2423Gln) c.7531A>C (p.Lys2511Gln) n.898A>C c.7264A>C (p.Lys2422Gln) c.7525A>C (p.Lys2509Gln) c.7537A>C (p.Lys2513Gln) c.5662A>C (p.Lys1888Gln) | |
| 6 | g.129465256A>G | CA365622106 | LAMA2 | c.7267A>G (p.Lys2423Glu) c.7531A>G (p.Lys2511Glu) n.898A>G c.7264A>G (p.Lys2422Glu) c.7525A>G (p.Lys2509Glu) c.7537A>G (p.Lys2513Glu) c.5662A>G (p.Lys1888Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465256A>T | CA365622108 | LAMA2 | c.7267A>T (p.Lys2423Ter) c.7531A>T (p.Lys2511Ter) n.898A>T c.7264A>T (p.Lys2422Ter) c.7525A>T (p.Lys2509Ter) c.7537A>T (p.Lys2513Ter) c.5662A>T (p.Lys1888Ter) | |
| 6 | g.129465257A>C | CA365622111 | LAMA2 | c.7268A>C (p.Lys2423Thr) c.7532A>C (p.Lys2511Thr) n.899A>C c.7265A>C (p.Lys2422Thr) c.7526A>C (p.Lys2509Thr) c.7538A>C (p.Lys2513Thr) c.5663A>C (p.Lys1888Thr) | |
| 6 | g.129465257A>G | CA365622113 | LAMA2 | c.7268A>G (p.Lys2423Arg) c.7532A>G (p.Lys2511Arg) n.899A>G c.7265A>G (p.Lys2422Arg) c.7526A>G (p.Lys2509Arg) c.7538A>G (p.Lys2513Arg) c.5663A>G (p.Lys1888Arg) | |
| 6 | g.129465257A>T | CA365622115 | LAMA2 | c.7268A>T (p.Lys2423Ile) c.7532A>T (p.Lys2511Ile) n.899A>T c.7265A>T (p.Lys2422Ile) c.7526A>T (p.Lys2509Ile) c.7538A>T (p.Lys2513Ile) c.5663A>T (p.Lys1888Ile) | |
| 6 | g.129465258A>C | CA365622118 | LAMA2 | c.7269A>C (p.Lys2423Asn) c.7533A>C (p.Lys2511Asn) n.900A>C c.7266A>C (p.Lys2422Asn) c.7527A>C (p.Lys2509Asn) c.7539A>C (p.Lys2513Asn) c.5664A>C (p.Lys1888Asn) | |
| 6 | g.129465258A>G | CA451926477 | LAMA2 | c.7269A>G (p.Lys2423=) c.7533A>G (p.Lys2511=) n.900A>G c.7266A>G (p.Lys2422=) c.7527A>G (p.Lys2509=) c.7539A>G (p.Lys2513=) c.5664A>G (p.Lys1888=) | |
| 6 | g.129465258A>T | CA365622119 | LAMA2 | c.7269A>T (p.Lys2423Asn) c.7533A>T (p.Lys2511Asn) n.900A>T c.7266A>T (p.Lys2422Asn) c.7527A>T (p.Lys2509Asn) c.7539A>T (p.Lys2513Asn) c.5664A>T (p.Lys1888Asn) | |
| 6 | g.129465259T>A | CA365622123 | LAMA2 | c.7270T>A (p.Ser2424Thr) c.7534T>A (p.Ser2512Thr) n.901T>A c.7267T>A (p.Ser2423Thr) c.7528T>A (p.Ser2510Thr) c.7540T>A (p.Ser2514Thr) c.5665T>A (p.Ser1889Thr) | |
| 6 | g.129465259T>C | CA365622122 | LAMA2 | c.7270T>C (p.Ser2424Pro) c.7534T>C (p.Ser2512Pro) n.901T>C c.7267T>C (p.Ser2423Pro) c.7528T>C (p.Ser2510Pro) c.7540T>C (p.Ser2514Pro) c.5665T>C (p.Ser1889Pro) | |
| 6 | g.129465259T>G | CA365622121 | LAMA2 | c.7270T>G (p.Ser2424Ala) c.7534T>G (p.Ser2512Ala) n.901T>G c.7267T>G (p.Ser2423Ala) c.7528T>G (p.Ser2510Ala) c.7540T>G (p.Ser2514Ala) c.5665T>G (p.Ser1889Ala) | |
| 6 | g.129465260C>A | CA365622125 | LAMA2 | c.7271C>A (p.Ser2424Ter) c.7535C>A (p.Ser2512Ter) n.902C>A c.7268C>A (p.Ser2423Ter) c.7529C>A (p.Ser2510Ter) c.7541C>A (p.Ser2514Ter) c.5666C>A (p.Ser1889Ter) | |
| 6 | g.129465260C>G | CA365622127 | LAMA2 | c.7271C>G (p.Ser2424Ter) c.7535C>G (p.Ser2512Ter) n.902C>G c.7268C>G (p.Ser2423Ter) c.7529C>G (p.Ser2510Ter) c.7541C>G (p.Ser2514Ter) c.5666C>G (p.Ser1889Ter) | |
| 6 | g.129465260C>T | CA365622129 | LAMA2 | c.7271C>T (p.Ser2424Leu) c.7535C>T (p.Ser2512Leu) n.902C>T c.7268C>T (p.Ser2423Leu) c.7529C>T (p.Ser2510Leu) c.7541C>T (p.Ser2514Leu) c.5666C>T (p.Ser1889Leu) | |
| 6 | g.129465261A>C | CA451926479 | LAMA2 | c.7272A>C (p.Ser2424=) c.7536A>C (p.Ser2512=) n.903A>C c.7269A>C (p.Ser2423=) c.7530A>C (p.Ser2510=) c.7542A>C (p.Ser2514=) c.5667A>C (p.Ser1889=) | |
| 6 | g.129465261A>G | CA451926480 | LAMA2 | c.7272A>G (p.Ser2424=) c.7536A>G (p.Ser2512=) n.903A>G c.7269A>G (p.Ser2423=) c.7530A>G (p.Ser2510=) c.7542A>G (p.Ser2514=) c.5667A>G (p.Ser1889=) | |
| 6 | g.129465261A>T | CA451926481 | LAMA2 | c.7272A>T (p.Ser2424=) c.7536A>T (p.Ser2512=) n.903A>T c.7269A>T (p.Ser2423=) c.7530A>T (p.Ser2510=) c.7542A>T (p.Ser2514=) c.5667A>T (p.Ser1889=) | |
| 6 | g.129465262T>A | CA365622132 | LAMA2 | c.7273T>A (p.Phe2425Ile) c.7537T>A (p.Phe2513Ile) n.904T>A c.7270T>A (p.Phe2424Ile) c.7531T>A (p.Phe2511Ile) c.7543T>A (p.Phe2515Ile) c.5668T>A (p.Phe1890Ile) | |
| 6 | g.129465262T>C | CA365622134 | LAMA2 | c.7273T>C (p.Phe2425Leu) c.7537T>C (p.Phe2513Leu) n.904T>C c.7270T>C (p.Phe2424Leu) c.7531T>C (p.Phe2511Leu) c.7543T>C (p.Phe2515Leu) c.5668T>C (p.Phe1890Leu) | |
| 6 | g.129465262T>G | CA3994493 | LAMA2 | c.7273T>G (p.Phe2425Val) c.7537T>G (p.Phe2513Val) n.904T>G c.7270T>G (p.Phe2424Val) c.7531T>G (p.Phe2511Val) c.7543T>G (p.Phe2515Val) c.5668T>G (p.Phe1890Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465262T= | CA1663192679 | LAMA2 | c.7273T= (p.Phe2425=) c.7537T= (p.Phe2513=) n.904T= c.7270T= (p.Phe2424=) c.7531T= (p.Phe2511=) c.7543T= (p.Phe2515=) c.5668T= (p.Phe1890=) | |
| 6 | g.129465263T>A | CA365622137 | LAMA2 | c.7274T>A (p.Phe2425Tyr) c.7538T>A (p.Phe2513Tyr) n.905T>A c.7271T>A (p.Phe2424Tyr) c.7532T>A (p.Phe2511Tyr) c.7544T>A (p.Phe2515Tyr) c.5669T>A (p.Phe1890Tyr) | |
| 6 | g.129465263T>C | CA365622139 | LAMA2 | c.7274T>C (p.Phe2425Ser) c.7538T>C (p.Phe2513Ser) n.905T>C c.7271T>C (p.Phe2424Ser) c.7532T>C (p.Phe2511Ser) c.7544T>C (p.Phe2515Ser) c.5669T>C (p.Phe1890Ser) | |
| 6 | g.129465263T>G | CA365622140 | LAMA2 | c.7274T>G (p.Phe2425Cys) c.7538T>G (p.Phe2513Cys) n.905T>G c.7271T>G (p.Phe2424Cys) c.7532T>G (p.Phe2511Cys) c.7544T>G (p.Phe2515Cys) c.5669T>G (p.Phe1890Cys) | |
| 6 | g.129465264C>A | CA365622142 | LAMA2 | c.7275C>A (p.Phe2425Leu) c.7539C>A (p.Phe2513Leu) n.906C>A c.7272C>A (p.Phe2424Leu) c.7533C>A (p.Phe2511Leu) c.7545C>A (p.Phe2515Leu) c.5670C>A (p.Phe1890Leu) | COSMIC |
| 6 | g.129465264C>G | CA365622143 | LAMA2 | c.7275C>G (p.Phe2425Leu) c.7539C>G (p.Phe2513Leu) n.906C>G c.7272C>G (p.Phe2424Leu) c.7533C>G (p.Phe2511Leu) c.7545C>G (p.Phe2515Leu) c.5670C>G (p.Phe1890Leu) | |
| 6 | g.129465264C>T | CA451926482 | LAMA2 | c.7275C>T (p.Phe2425=) c.7539C>T (p.Phe2513=) n.906C>T c.7272C>T (p.Phe2424=) c.7533C>T (p.Phe2511=) c.7545C>T (p.Phe2515=) c.5670C>T (p.Phe1890=) | |
| 6 | g.129465265A>C | CA365622145 | LAMA2 | c.7276A>C (p.Thr2426Pro) c.7540A>C (p.Thr2514Pro) n.907A>C c.7273A>C (p.Thr2425Pro) c.7534A>C (p.Thr2512Pro) c.7546A>C (p.Thr2516Pro) c.5671A>C (p.Thr1891Pro) | |
| 6 | g.129465265A>G | CA365622146 | LAMA2 | c.7276A>G (p.Thr2426Ala) c.7540A>G (p.Thr2514Ala) n.907A>G c.7273A>G (p.Thr2425Ala) c.7534A>G (p.Thr2512Ala) c.7546A>G (p.Thr2516Ala) c.5671A>G (p.Thr1891Ala) | |
| 6 | g.129465265A>T | CA365622150 | LAMA2 | c.7276A>T (p.Thr2426Ser) c.7540A>T (p.Thr2514Ser) n.907A>T c.7273A>T (p.Thr2425Ser) c.7534A>T (p.Thr2512Ser) c.7546A>T (p.Thr2516Ser) c.5671A>T (p.Thr1891Ser) | |
| 6 | g.129465265_129465267delinsACT | CA1663192682 | LAMA2 | c.7276_7278delinsACT (p.Thr2426=) c.7540_7542delinsACT (p.Thr2514=) n.907_909delinsACT c.7273_7275delinsACT (p.Thr2425=) c.7534_7536delinsACT (p.Thr2512=) c.7546_7548delinsACT (p.Thr2516=) c.5671_5673delinsACT (p.Thr1891=) | |
| 6 | g.129465266C>A | CA365622153 | LAMA2 | c.7277C>A (p.Thr2426Asn) c.7541C>A (p.Thr2514Asn) n.908C>A c.7274C>A (p.Thr2425Asn) c.7535C>A (p.Thr2512Asn) c.7547C>A (p.Thr2516Asn) c.5672C>A (p.Thr1891Asn) | |
| 6 | g.129465266C= | CA1663192688 | LAMA2 | c.7277C= (p.Thr2426=) c.7541C= (p.Thr2514=) n.908C= c.7274C= (p.Thr2425=) c.7535C= (p.Thr2512=) c.7547C= (p.Thr2516=) c.5672C= (p.Thr1891=) | |
| 6 | g.129465266C>G | CA365622154 | LAMA2 | c.7277C>G (p.Thr2426Ser) c.7541C>G (p.Thr2514Ser) n.908C>G c.7274C>G (p.Thr2425Ser) c.7535C>G (p.Thr2512Ser) c.7547C>G (p.Thr2516Ser) c.5672C>G (p.Thr1891Ser) | |
| 6 | g.129465266C>T | CA365622156 | LAMA2 | c.7277C>T (p.Thr2426Ile) c.7541C>T (p.Thr2514Ile) n.908C>T c.7274C>T (p.Thr2425Ile) c.7535C>T (p.Thr2512Ile) c.7547C>T (p.Thr2516Ile) c.5672C>T (p.Thr1891Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465268_129465269del | CA220801 | LAMA2 | c.7279_7280del (p.Leu2427ValfsTer17) c.7543_7544del (p.Leu2515ValfsTer17) n.910_911del c.7276_7277del (p.Leu2426ValfsTer17) c.7537_7538del (p.Leu2513ValfsTer17) c.7549_7550del (p.Leu2517ValfsTer17) c.5674_5675del (p.Leu1892ValfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465267T>A | CA451926483 | LAMA2 | c.7278T>A (p.Thr2426=) c.7542T>A (p.Thr2514=) n.909T>A c.7275T>A (p.Thr2425=) c.7536T>A (p.Thr2512=) c.7548T>A (p.Thr2516=) c.5673T>A (p.Thr1891=) | |
| 6 | g.129465267T>C | CA451926484 | LAMA2 | c.7278T>C (p.Thr2426=) c.7542T>C (p.Thr2514=) n.909T>C c.7275T>C (p.Thr2425=) c.7536T>C (p.Thr2512=) c.7548T>C (p.Thr2516=) c.5673T>C (p.Thr1891=) | |
| 6 | g.129465267T>G | CA451926485 | LAMA2 | c.7278T>G (p.Thr2426=) c.7542T>G (p.Thr2514=) n.909T>G c.7275T>G (p.Thr2425=) c.7536T>G (p.Thr2512=) c.7548T>G (p.Thr2516=) c.5673T>G (p.Thr1891=) | |
| 6 | g.129465269_129465272del | CA2580074992 | LAMA2 | c.7280_7283del (p.Leu2427GlnfsTer12) c.7544_7547del (p.Leu2515GlnfsTer12) n.911_914del c.7277_7280del (p.Leu2426GlnfsTer12) c.7538_7541del (p.Leu2513GlnfsTer12) c.7550_7553del (p.Leu2517GlnfsTer12) c.5675_5678del (p.Leu1892GlnfsTer12) | ClinVar |
| 6 | g.129465268C>A | CA365622159 | LAMA2 | c.7279C>A (p.Leu2427Met) c.7543C>A (p.Leu2515Met) n.910C>A c.7276C>A (p.Leu2426Met) c.7537C>A (p.Leu2513Met) c.7549C>A (p.Leu2517Met) c.5674C>A (p.Leu1892Met) | |
| 6 | g.129465268C>G | CA365622162 | LAMA2 | c.7279C>G (p.Leu2427Val) c.7543C>G (p.Leu2515Val) n.910C>G c.7276C>G (p.Leu2426Val) c.7537C>G (p.Leu2513Val) c.7549C>G (p.Leu2517Val) c.5674C>G (p.Leu1892Val) | |
| 6 | g.129465268C>T | CA451926486 | LAMA2 | c.7279C>T (p.Leu2427=) c.7543C>T (p.Leu2515=) n.910C>T c.7276C>T (p.Leu2426=) c.7537C>T (p.Leu2513=) c.7549C>T (p.Leu2517=) c.5674C>T (p.Leu1892=) | |
| 6 | g.129465269del | CA2697553711 | LAMA2 | c.7280del (p.Leu2427ArgfsTer13) c.7544del (p.Leu2515ArgfsTer13) n.911del c.7277del (p.Leu2426ArgfsTer13) c.7538del (p.Leu2513ArgfsTer13) c.7550del (p.Leu2517ArgfsTer13) c.5675del (p.Leu1892ArgfsTer13) | ClinVar |
| 6 | g.129465269T>A | CA365622166 | LAMA2 | c.7280T>A (p.Leu2427Gln) c.7544T>A (p.Leu2515Gln) n.911T>A c.7277T>A (p.Leu2426Gln) c.7538T>A (p.Leu2513Gln) c.7550T>A (p.Leu2517Gln) c.5675T>A (p.Leu1892Gln) | |
| 6 | g.129465269T>C | CA365622168 | LAMA2 | c.7280T>C (p.Leu2427Pro) c.7544T>C (p.Leu2515Pro) n.911T>C c.7277T>C (p.Leu2426Pro) c.7538T>C (p.Leu2513Pro) c.7550T>C (p.Leu2517Pro) c.5675T>C (p.Leu1892Pro) | ClinVar dbSNP |
| 6 | g.129465269T>G | CA365622171 | LAMA2 | c.7280T>G (p.Leu2427Arg) c.7544T>G (p.Leu2515Arg) n.911T>G c.7277T>G (p.Leu2426Arg) c.7538T>G (p.Leu2513Arg) c.7550T>G (p.Leu2517Arg) c.5675T>G (p.Leu1892Arg) | |
| 6 | g.129465269T= | CA1663192691 | LAMA2 | c.7280T= (p.Leu2427=) c.7544T= (p.Leu2515=) n.911T= c.7277T= (p.Leu2426=) c.7538T= (p.Leu2513=) c.7550T= (p.Leu2517=) c.5675T= (p.Leu1892=) | |
| 6 | g.129465270G>A | CA451926487 | LAMA2 | c.7281G>A (p.Leu2427=) c.7545G>A (p.Leu2515=) n.912G>A c.7278G>A (p.Leu2426=) c.7539G>A (p.Leu2513=) c.7551G>A (p.Leu2517=) c.5676G>A (p.Leu1892=) | |
| 6 | g.129465270G>C | CA451926488 | LAMA2 | c.7281G>C (p.Leu2427=) c.7545G>C (p.Leu2515=) n.912G>C c.7278G>C (p.Leu2426=) c.7539G>C (p.Leu2513=) c.7551G>C (p.Leu2517=) c.5676G>C (p.Leu1892=) | |
| 6 | g.129465270G>T | CA451926489 | LAMA2 | c.7281G>T (p.Leu2427=) c.7545G>T (p.Leu2515=) n.912G>T c.7278G>T (p.Leu2426=) c.7539G>T (p.Leu2513=) c.7551G>T (p.Leu2517=) c.5676G>T (p.Leu1892=) | |
| 6 | g.129465271T>A | CA365622172 | LAMA2 | c.7282T>A (p.Ser2428Thr) c.7546T>A (p.Ser2516Thr) n.913T>A c.7279T>A (p.Ser2427Thr) c.7540T>A (p.Ser2514Thr) c.7552T>A (p.Ser2518Thr) c.5677T>A (p.Ser1893Thr) | |
| 6 | g.129465271T>C | CA365622173 | LAMA2 | c.7282T>C (p.Ser2428Pro) c.7546T>C (p.Ser2516Pro) n.913T>C c.7279T>C (p.Ser2427Pro) c.7540T>C (p.Ser2514Pro) c.7552T>C (p.Ser2518Pro) c.5677T>C (p.Ser1893Pro) | |
| 6 | g.129465271T>G | CA365622174 | LAMA2 | c.7282T>G (p.Ser2428Ala) c.7546T>G (p.Ser2516Ala) n.913T>G c.7279T>G (p.Ser2427Ala) c.7540T>G (p.Ser2514Ala) c.7552T>G (p.Ser2518Ala) c.5677T>G (p.Ser1893Ala) | |
| 6 | g.129465272C>A | CA365622175 | LAMA2 | c.7283C>A (p.Ser2428Ter) c.7547C>A (p.Ser2516Ter) n.914C>A c.7280C>A (p.Ser2427Ter) c.7541C>A (p.Ser2514Ter) c.7553C>A (p.Ser2518Ter) c.5678C>A (p.Ser1893Ter) | gnomAD v4 |
| 6 | g.129465272C= | CA1663192696 | LAMA2 | c.7283C= (p.Ser2428=) c.7547C= (p.Ser2516=) n.914C= c.7280C= (p.Ser2427=) c.7541C= (p.Ser2514=) c.7553C= (p.Ser2518=) c.5678C= (p.Ser1893=) | |
| 6 | g.129465272C>G | CA3994494 | LAMA2 | c.7283C>G (p.Ser2428Ter) c.7547C>G (p.Ser2516Ter) n.914C>G c.7280C>G (p.Ser2427Ter) c.7541C>G (p.Ser2514Ter) c.7553C>G (p.Ser2518Ter) c.5678C>G (p.Ser1893Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465272C>T | CA365622177 | LAMA2 | c.7283C>T (p.Ser2428Leu) c.7547C>T (p.Ser2516Leu) n.914C>T c.7280C>T (p.Ser2427Leu) c.7541C>T (p.Ser2514Leu) c.7553C>T (p.Ser2518Leu) c.5678C>T (p.Ser1893Leu) | |
| 6 | g.129465272_129465275del | CA913109499 | LAMA2 | c.7283_7286del (p.Ser2428Ter) c.7547_7550del (p.Ser2516Ter) n.914_917del c.7280_7283del (p.Ser2427Ter) c.7541_7544del (p.Ser2514Ter) c.7553_7556del (p.Ser2518Ter) c.5678_5681del (p.Ser1893Ter) | |
| 6 | g.129465272_129465275delinsCAAG | CA1663192694 | LAMA2 | c.7283_7286delinsCAAG (p.Ser2428=) c.7547_7550delinsCAAG (p.Ser2516=) n.914_917delinsCAAG c.7280_7283delinsCAAG (p.Ser2427=) c.7541_7544delinsCAAG (p.Ser2514=) c.7553_7556delinsCAAG (p.Ser2518=) c.5678_5681delinsCAAG (p.Ser1893=) | |
| 6 | g.129465273A>C | CA451926491 | LAMA2 | c.7284A>C (p.Ser2428=) c.7548A>C (p.Ser2516=) n.915A>C c.7281A>C (p.Ser2427=) c.7542A>C (p.Ser2514=) c.7554A>C (p.Ser2518=) c.5679A>C (p.Ser1893=) | |
| 6 | g.129465273A>G | CA451926490 | LAMA2 | c.7284A>G (p.Ser2428=) c.7548A>G (p.Ser2516=) n.915A>G c.7281A>G (p.Ser2427=) c.7542A>G (p.Ser2514=) c.7554A>G (p.Ser2518=) c.5679A>G (p.Ser1893=) | |
| 6 | g.129465273A>T | CA451926492 | LAMA2 | c.7284A>T (p.Ser2428=) c.7548A>T (p.Ser2516=) n.915A>T c.7281A>T (p.Ser2427=) c.7542A>T (p.Ser2514=) c.7554A>T (p.Ser2518=) c.5679A>T (p.Ser1893=) | |
| 6 | g.129465275_129465277del | CA365622178 | LAMA2 | c.7286_7288del (p.Arg2429del) c.7550_7552del (p.Arg2517del) n.917_919del c.7283_7285del (p.Arg2428del) c.7544_7546del (p.Arg2515del) c.7556_7558del (p.Arg2519del) c.5681_5683del (p.Arg1894del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465274A>C | CA451926493 | LAMA2 | c.7285A>C (p.Arg2429=) c.7549A>C (p.Arg2517=) n.916A>C c.7282A>C (p.Arg2428=) c.7543A>C (p.Arg2515=) c.7555A>C (p.Arg2519=) c.5680A>C (p.Arg1894=) | |
| 6 | g.129465274A>G | CA365622184 | LAMA2 | c.7285A>G (p.Arg2429Gly) c.7549A>G (p.Arg2517Gly) n.916A>G c.7282A>G (p.Arg2428Gly) c.7543A>G (p.Arg2515Gly) c.7555A>G (p.Arg2519Gly) c.5680A>G (p.Arg1894Gly) | |
| 6 | g.129465274A>T | CA365622181 | LAMA2 | c.7285A>T (p.Arg2429Ter) c.7549A>T (p.Arg2517Ter) n.916A>T c.7282A>T (p.Arg2428Ter) c.7543A>T (p.Arg2515Ter) c.7555A>T (p.Arg2519Ter) c.5680A>T (p.Arg1894Ter) | |
| 6 | g.129465275G>A | CA365622185 | LAMA2 | c.7286G>A (p.Arg2429Lys) c.7550G>A (p.Arg2517Lys) n.917G>A c.7283G>A (p.Arg2428Lys) c.7544G>A (p.Arg2515Lys) c.7556G>A (p.Arg2519Lys) c.5681G>A (p.Arg1894Lys) | |
| 6 | g.129465275G>C | CA365622188 | LAMA2 | c.7286G>C (p.Arg2429Thr) c.7550G>C (p.Arg2517Thr) n.917G>C c.7283G>C (p.Arg2428Thr) c.7544G>C (p.Arg2515Thr) c.7556G>C (p.Arg2519Thr) c.5681G>C (p.Arg1894Thr) | dbSNP |
| 6 | g.129465275G= | CA1663192703 | LAMA2 | c.7286G= (p.Arg2429=) c.7550G= (p.Arg2517=) n.917G= c.7283G= (p.Arg2428=) c.7544G= (p.Arg2515=) c.7556G= (p.Arg2519=) c.5681G= (p.Arg1894=) | |
| 6 | g.129465275G>T | CA365622189 | LAMA2 | c.7286G>T (p.Arg2429Ile) c.7550G>T (p.Arg2517Ile) n.917G>T c.7283G>T (p.Arg2428Ile) c.7544G>T (p.Arg2515Ile) c.7556G>T (p.Arg2519Ile) c.5681G>T (p.Arg1894Ile) | |
| 6 | g.129465276A>C | CA365622194 | LAMA2 | c.7287A>C (p.Arg2429Ser) c.7551A>C (p.Arg2517Ser) n.918A>C c.7284A>C (p.Arg2428Ser) c.7545A>C (p.Arg2515Ser) c.7557A>C (p.Arg2519Ser) c.5682A>C (p.Arg1894Ser) | |
| 6 | g.129465276A>G | CA451926494 | LAMA2 | c.7287A>G (p.Arg2429=) c.7551A>G (p.Arg2517=) n.918A>G c.7284A>G (p.Arg2428=) c.7545A>G (p.Arg2515=) c.7557A>G (p.Arg2519=) c.5682A>G (p.Arg1894=) | |
| 6 | g.129465276A>T | CA365622198 | LAMA2 | c.7287A>T (p.Arg2429Ser) c.7551A>T (p.Arg2517Ser) n.918A>T c.7284A>T (p.Arg2428Ser) c.7545A>T (p.Arg2515Ser) c.7557A>T (p.Arg2519Ser) c.5682A>T (p.Arg1894Ser) | gnomAD v4 |
| 6 | g.129465277A= | CA1663192708 | LAMA2 | c.7288A= (p.Ile2430=) c.7552A= (p.Ile2518=) n.919A= c.7285A= (p.Ile2429=) c.7546A= (p.Ile2516=) c.7558A= (p.Ile2520=) c.5683A= (p.Ile1895=) | |
| 6 | g.129465277A>C | CA365622200 | LAMA2 | c.7288A>C (p.Ile2430Leu) c.7552A>C (p.Ile2518Leu) n.919A>C c.7285A>C (p.Ile2429Leu) c.7546A>C (p.Ile2516Leu) c.7558A>C (p.Ile2520Leu) c.5683A>C (p.Ile1895Leu) | ClinVar dbSNP |
| 6 | g.129465277A>G | CA365622201 | LAMA2 | c.7288A>G (p.Ile2430Val) c.7552A>G (p.Ile2518Val) n.919A>G c.7285A>G (p.Ile2429Val) c.7546A>G (p.Ile2516Val) c.7558A>G (p.Ile2520Val) c.5683A>G (p.Ile1895Val) | |
| 6 | g.129465277A>T | CA365622203 | LAMA2 | c.7288A>T (p.Ile2430Phe) c.7552A>T (p.Ile2518Phe) n.919A>T c.7285A>T (p.Ile2429Phe) c.7546A>T (p.Ile2516Phe) c.7558A>T (p.Ile2520Phe) c.5683A>T (p.Ile1895Phe) | |
| 6 | g.129465278T>A | CA365622205 | LAMA2 | c.7289T>A (p.Ile2430Asn) c.7553T>A (p.Ile2518Asn) n.920T>A c.7286T>A (p.Ile2429Asn) c.7547T>A (p.Ile2516Asn) c.7559T>A (p.Ile2520Asn) c.5684T>A (p.Ile1895Asn) | |
| 6 | g.129465278T>C | CA365622207 | LAMA2 | c.7289T>C (p.Ile2430Thr) c.7553T>C (p.Ile2518Thr) n.920T>C c.7286T>C (p.Ile2429Thr) c.7547T>C (p.Ile2516Thr) c.7559T>C (p.Ile2520Thr) c.5684T>C (p.Ile1895Thr) | |
| 6 | g.129465278T>G | CA365622209 | LAMA2 | c.7289T>G (p.Ile2430Ser) c.7553T>G (p.Ile2518Ser) n.920T>G c.7286T>G (p.Ile2429Ser) c.7547T>G (p.Ile2516Ser) c.7559T>G (p.Ile2520Ser) c.5684T>G (p.Ile1895Ser) | |
| 6 | g.129465279T>A | CA451926495 | LAMA2 | c.7290T>A (p.Ile2430=) c.7554T>A (p.Ile2518=) n.921T>A c.7287T>A (p.Ile2429=) c.7548T>A (p.Ile2516=) c.7560T>A (p.Ile2520=) c.5685T>A (p.Ile1895=) | |
| 6 | g.129465279T>C | CA451926496 | LAMA2 | c.7290T>C (p.Ile2430=) c.7554T>C (p.Ile2518=) n.921T>C c.7287T>C (p.Ile2429=) c.7548T>C (p.Ile2516=) c.7560T>C (p.Ile2520=) c.5685T>C (p.Ile1895=) | gnomAD v4 |
| 6 | g.129465279T>G | CA365622211 | LAMA2 | c.7290T>G (p.Ile2430Met) c.7554T>G (p.Ile2518Met) n.921T>G c.7287T>G (p.Ile2429Met) c.7548T>G (p.Ile2516Met) c.7560T>G (p.Ile2520Met) c.5685T>G (p.Ile1895Met) | |
| 6 | g.129465280C>A | CA365622214 | LAMA2 | c.7291C>A (p.Gln2431Lys) c.7555C>A (p.Gln2519Lys) n.922C>A c.7288C>A (p.Gln2430Lys) c.7549C>A (p.Gln2517Lys) c.7561C>A (p.Gln2521Lys) c.5686C>A (p.Gln1896Lys) | |
| 6 | g.129465280C>G | CA365622221 | LAMA2 | c.7291C>G (p.Gln2431Glu) c.7555C>G (p.Gln2519Glu) n.922C>G c.7288C>G (p.Gln2430Glu) c.7549C>G (p.Gln2517Glu) c.7561C>G (p.Gln2521Glu) c.5686C>G (p.Gln1896Glu) | |
| 6 | g.129465280C>T | CA365622217 | LAMA2 | c.7291C>T (p.Gln2431Ter) c.7555C>T (p.Gln2519Ter) n.922C>T c.7288C>T (p.Gln2430Ter) c.7549C>T (p.Gln2517Ter) c.7561C>T (p.Gln2521Ter) c.5686C>T (p.Gln1896Ter) | |
| 6 | g.129465281A>C | CA365622225 | LAMA2 | c.7292A>C (p.Gln2431Pro) c.7556A>C (p.Gln2519Pro) n.923A>C c.7289A>C (p.Gln2430Pro) c.7550A>C (p.Gln2517Pro) c.7562A>C (p.Gln2521Pro) c.5687A>C (p.Gln1896Pro) | |
| 6 | g.129465281A>G | CA365622230 | LAMA2 | c.7292A>G (p.Gln2431Arg) c.7556A>G (p.Gln2519Arg) n.923A>G c.7289A>G (p.Gln2430Arg) c.7550A>G (p.Gln2517Arg) c.7562A>G (p.Gln2521Arg) c.5687A>G (p.Gln1896Arg) | |
| 6 | g.129465281A>T | CA365622227 | LAMA2 | c.7292A>T (p.Gln2431Leu) c.7556A>T (p.Gln2519Leu) n.923A>T c.7289A>T (p.Gln2430Leu) c.7550A>T (p.Gln2517Leu) c.7562A>T (p.Gln2521Leu) c.5687A>T (p.Gln1896Leu) | |
| 6 | g.129465285del | CA2580074993 | LAMA2 | c.7296del (p.Lys2432AsnfsTer8) c.7560del (p.Lys2520AsnfsTer8) n.927del c.7293del (p.Lys2431AsnfsTer8) c.7554del (p.Lys2518AsnfsTer8) c.7566del (p.Lys2522AsnfsTer8) c.5691del (p.Lys1897AsnfsTer8) | ClinVar gnomAD v4 |
| 6 | g.129465282A>C | CA365622237 | LAMA2 | c.7293A>C (p.Gln2431His) c.7557A>C (p.Gln2519His) n.924A>C c.7290A>C (p.Gln2430His) c.7551A>C (p.Gln2517His) c.7563A>C (p.Gln2521His) c.5688A>C (p.Gln1896His) | |
| 6 | g.129465282A>G | CA451926497 | LAMA2 | c.7293A>G (p.Gln2431=) c.7557A>G (p.Gln2519=) n.924A>G c.7290A>G (p.Gln2430=) c.7551A>G (p.Gln2517=) c.7563A>G (p.Gln2521=) c.5688A>G (p.Gln1896=) | |
| 6 | g.129465282A>T | CA365622240 | LAMA2 | c.7293A>T (p.Gln2431His) c.7557A>T (p.Gln2519His) n.924A>T c.7290A>T (p.Gln2430His) c.7551A>T (p.Gln2517His) c.7563A>T (p.Gln2521His) c.5688A>T (p.Gln1896His) | |
| 6 | g.129465283A>C | CA365622243 | LAMA2 | c.7294A>C (p.Lys2432Gln) c.7558A>C (p.Lys2520Gln) n.925A>C c.7291A>C (p.Lys2431Gln) c.7552A>C (p.Lys2518Gln) c.7564A>C (p.Lys2522Gln) c.5689A>C (p.Lys1897Gln) | |
| 6 | g.129465283A>G | CA365622244 | LAMA2 | c.7294A>G (p.Lys2432Glu) c.7558A>G (p.Lys2520Glu) n.925A>G c.7291A>G (p.Lys2431Glu) c.7552A>G (p.Lys2518Glu) c.7564A>G (p.Lys2522Glu) c.5689A>G (p.Lys1897Glu) | |
| 6 | g.129465283A>T | CA365622247 | LAMA2 | c.7294A>T (p.Lys2432Ter) c.7558A>T (p.Lys2520Ter) n.925A>T c.7291A>T (p.Lys2431Ter) c.7552A>T (p.Lys2518Ter) c.7564A>T (p.Lys2522Ter) c.5689A>T (p.Lys1897Ter) | |
| 6 | g.129465284A>C | CA365622255 | LAMA2 | c.7295A>C (p.Lys2432Thr) c.7559A>C (p.Lys2520Thr) n.926A>C c.7292A>C (p.Lys2431Thr) c.7553A>C (p.Lys2518Thr) c.7565A>C (p.Lys2522Thr) c.5690A>C (p.Lys1897Thr) | |
| 6 | g.129465284A>G | CA365622257 | LAMA2 | c.7295A>G (p.Lys2432Arg) c.7559A>G (p.Lys2520Arg) n.926A>G c.7292A>G (p.Lys2431Arg) c.7553A>G (p.Lys2518Arg) c.7565A>G (p.Lys2522Arg) c.5690A>G (p.Lys1897Arg) | |
| 6 | g.129465284A>T | CA365622259 | LAMA2 | c.7295A>T (p.Lys2432Ile) c.7559A>T (p.Lys2520Ile) n.926A>T c.7292A>T (p.Lys2431Ile) c.7553A>T (p.Lys2518Ile) c.7565A>T (p.Lys2522Ile) c.5690A>T (p.Lys1897Ile) | |
| 6 | g.129465285A= | CA1663192712 | LAMA2 | c.7296A= (p.Lys2432=) c.7560A= (p.Lys2520=) n.927A= c.7293A= (p.Lys2431=) c.7554A= (p.Lys2518=) c.7566A= (p.Lys2522=) c.5691A= (p.Lys1897=) | |
| 6 | g.129465285A>C | CA365622263 | LAMA2 | c.7296A>C (p.Lys2432Asn) c.7560A>C (p.Lys2520Asn) n.927A>C c.7293A>C (p.Lys2431Asn) c.7554A>C (p.Lys2518Asn) c.7566A>C (p.Lys2522Asn) c.5691A>C (p.Lys1897Asn) | |
| 6 | g.129465285A>G | CA451926498 | LAMA2 | c.7296A>G (p.Lys2432=) c.7560A>G (p.Lys2520=) n.927A>G c.7293A>G (p.Lys2431=) c.7554A>G (p.Lys2518=) c.7566A>G (p.Lys2522=) c.5691A>G (p.Lys1897=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465285A>T | CA365622272 | LAMA2 | c.7296A>T (p.Lys2432Asn) c.7560A>T (p.Lys2520Asn) n.927A>T c.7293A>T (p.Lys2431Asn) c.7554A>T (p.Lys2518Asn) c.7566A>T (p.Lys2522Asn) c.5691A>T (p.Lys1897Asn) | |
| 6 | g.129465286C>A | CA365622279 | LAMA2 | c.7297C>A (p.Gln2433Lys) c.7561C>A (p.Gln2521Lys) n.928C>A c.7294C>A (p.Gln2432Lys) c.7555C>A (p.Gln2519Lys) c.7567C>A (p.Gln2523Lys) c.5692C>A (p.Gln1898Lys) | |
| 6 | g.129465286C= | CA1663192714 | LAMA2 | c.7297C= (p.Gln2433=) c.7561C= (p.Gln2521=) n.928C= c.7294C= (p.Gln2432=) c.7555C= (p.Gln2519=) c.7567C= (p.Gln2523=) c.5692C= (p.Gln1898=) | |
| 6 | g.129465286C>G | CA365622276 | LAMA2 | c.7297C>G (p.Gln2433Glu) c.7561C>G (p.Gln2521Glu) n.928C>G c.7294C>G (p.Gln2432Glu) c.7555C>G (p.Gln2519Glu) c.7567C>G (p.Gln2523Glu) c.5692C>G (p.Gln1898Glu) | |
| 6 | g.129465286C>T | CA365622275 | LAMA2 | c.7297C>T (p.Gln2433Ter) c.7561C>T (p.Gln2521Ter) n.928C>T c.7294C>T (p.Gln2432Ter) c.7555C>T (p.Gln2519Ter) c.7567C>T (p.Gln2523Ter) c.5692C>T (p.Gln1898Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465287A>C | CA365622280 | LAMA2 | c.7298A>C (p.Gln2433Pro) c.7562A>C (p.Gln2521Pro) n.929A>C c.7295A>C (p.Gln2432Pro) c.7556A>C (p.Gln2519Pro) c.7568A>C (p.Gln2523Pro) c.5693A>C (p.Gln1898Pro) | |
| 6 | g.129465287A>G | CA365622281 | LAMA2 | c.7298A>G (p.Gln2433Arg) c.7562A>G (p.Gln2521Arg) n.929A>G c.7295A>G (p.Gln2432Arg) c.7556A>G (p.Gln2519Arg) c.7568A>G (p.Gln2523Arg) c.5693A>G (p.Gln1898Arg) | gnomAD v4 |
| 6 | g.129465287A>T | CA365622282 | LAMA2 | c.7298A>T (p.Gln2433Leu) c.7562A>T (p.Gln2521Leu) n.929A>T c.7295A>T (p.Gln2432Leu) c.7556A>T (p.Gln2519Leu) c.7568A>T (p.Gln2523Leu) c.5693A>T (p.Gln1898Leu) | |
| 6 | g.129465288A>C | CA365622283 | LAMA2 | c.7299A>C (p.Gln2433His) c.7563A>C (p.Gln2521His) n.930A>C c.7296A>C (p.Gln2432His) c.7557A>C (p.Gln2519His) c.7569A>C (p.Gln2523His) c.5694A>C (p.Gln1898His) | |
| 6 | g.129465288A>G | CA451926499 | LAMA2 | c.7299A>G (p.Gln2433=) c.7563A>G (p.Gln2521=) n.930A>G c.7296A>G (p.Gln2432=) c.7557A>G (p.Gln2519=) c.7569A>G (p.Gln2523=) c.5694A>G (p.Gln1898=) | |
| 6 | g.129465288A>T | CA365622285 | LAMA2 | c.7299A>T (p.Gln2433His) c.7563A>T (p.Gln2521His) n.930A>T c.7296A>T (p.Gln2432His) c.7557A>T (p.Gln2519His) c.7569A>T (p.Gln2523His) c.5694A>T (p.Gln1898His) | |
| 6 | g.129465289G>A | CA365622287 | LAMA2 | c.7300G>A (p.Ala2434Thr) c.7564G>A (p.Ala2522Thr) n.931G>A c.7297G>A (p.Ala2433Thr) c.7558G>A (p.Ala2520Thr) c.7570G>A (p.Ala2524Thr) c.5695G>A (p.Ala1899Thr) | dbSNP |
| 6 | g.129465289G>C | CA365622294 | LAMA2 | c.7300G>C (p.Ala2434Pro) c.7564G>C (p.Ala2522Pro) n.931G>C c.7297G>C (p.Ala2433Pro) c.7558G>C (p.Ala2520Pro) c.7570G>C (p.Ala2524Pro) c.5695G>C (p.Ala1899Pro) | |
| 6 | g.129465289G= | CA1663192715 | LAMA2 | c.7300G= (p.Ala2434=) c.7564G= (p.Ala2522=) n.931G= c.7297G= (p.Ala2433=) c.7558G= (p.Ala2520=) c.7570G= (p.Ala2524=) c.5695G= (p.Ala1899=) | |
| 6 | g.129465289G>T | CA365622296 | LAMA2 | c.7300G>T (p.Ala2434Ser) c.7564G>T (p.Ala2522Ser) n.931G>T c.7297G>T (p.Ala2433Ser) c.7558G>T (p.Ala2520Ser) c.7570G>T (p.Ala2524Ser) c.5695G>T (p.Ala1899Ser) | |
| 6 | g.129465290G>A | CA365622298 | LAMA2 | c.7300+1G>A (n.7300+1G>A) c.7564+1G>A (n.7564+1G>A) n.931+1G>A c.7297+1G>A (n.7297+1G>A) c.7558+1G>A (n.7558+1G>A) c.7570+1G>A (n.7570+1G>A) c.5695+1G>A (n.5695+1G>A) | |
| 6 | g.129465290G>C | CA365622304 | LAMA2 | c.7300+1G>C (n.7300+1G>C) c.7564+1G>C (n.7564+1G>C) n.931+1G>C c.7297+1G>C (n.7297+1G>C) c.7558+1G>C (n.7558+1G>C) c.7570+1G>C (n.7570+1G>C) c.5695+1G>C (n.5695+1G>C) | |
| 6 | g.129465290G>T | CA365622305 | LAMA2 | c.7300+1G>T (n.7300+1G>T) c.7564+1G>T (n.7564+1G>T) n.931+1G>T c.7297+1G>T (n.7297+1G>T) c.7558+1G>T (n.7558+1G>T) c.7570+1G>T (n.7570+1G>T) c.5695+1G>T (n.5695+1G>T) | gnomAD v4 |
| 6 | g.129465291T>A | CA365622308 | LAMA2 | c.7300+2T>A (n.7300+2T>A) c.7564+2T>A (n.7564+2T>A) n.931+2T>A c.7297+2T>A (n.7297+2T>A) c.7558+2T>A (n.7558+2T>A) c.7570+2T>A (n.7570+2T>A) c.5695+2T>A (n.5695+2T>A) | |
| 6 | g.129465291T>C | CA365622310 | LAMA2 | c.7300+2T>C (n.7300+2T>C) c.7564+2T>C (n.7564+2T>C) n.931+2T>C c.7297+2T>C (n.7297+2T>C) c.7558+2T>C (n.7558+2T>C) c.7570+2T>C (n.7570+2T>C) c.5695+2T>C (n.5695+2T>C) | dbSNP |
| 6 | g.129465291T>G | CA3994495 | LAMA2 | c.7300+2T>G (n.7300+2T>G) c.7564+2T>G (n.7564+2T>G) n.931+2T>G c.7297+2T>G (n.7297+2T>G) c.7558+2T>G (n.7558+2T>G) c.7570+2T>G (n.7570+2T>G) c.5695+2T>G (n.5695+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465291T= | CA1663192716 | LAMA2 | c.7300+2T= (n.7300+2T=) c.7564+2T= (n.7564+2T=) n.931+2T= c.7297+2T= (n.7297+2T=) c.7558+2T= (n.7558+2T=) c.7570+2T= (n.7570+2T=) c.5695+2T= (n.5695+2T=) | |
| 6 | g.129465294_129465296dup | CA2573140487 | LAMA2 | c.7300+5_7300+7dup (n.7300+5_7300+7dup) c.7564+5_7564+7dup (n.7564+5_7564+7dup) n.931+5_931+7dup c.7297+5_7297+7dup (n.7297+5_7297+7dup) c.7558+5_7558+7dup (n.7558+5_7558+7dup) c.7570+5_7570+7dup (n.7570+5_7570+7dup) c.5695+5_5695+7dup (n.5695+5_5695+7dup) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465297T>C | CA1663192718 | LAMA2 | c.7300+8T>C (n.7300+8T>C) c.7564+8T>C (n.7564+8T>C) n.931+8T>C c.7297+8T>C (n.7297+8T>C) c.7558+8T>C (n.7558+8T>C) c.7570+8T>C (n.7570+8T>C) c.5695+8T>C (n.5695+8T>C) | dbSNP gnomAD v4 |
| 6 | g.129465297T= | CA1663192719 | LAMA2 | c.7300+8T= (n.7300+8T=) c.7564+8T= (n.7564+8T=) n.931+8T= c.7297+8T= (n.7297+8T=) c.7558+8T= (n.7558+8T=) c.7570+8T= (n.7570+8T=) c.5695+8T= (n.5695+8T=) | |
| 6 | g.129465298T>A | CA2773038006 | LAMA2 | c.7300+9T>A (n.7300+9T>A) c.7564+9T>A (n.7564+9T>A) n.931+9T>A c.7297+9T>A (n.7297+9T>A) c.7558+9T>A (n.7558+9T>A) c.7570+9T>A (n.7570+9T>A) c.5695+9T>A (n.5695+9T>A) | |
| 6 | g.129465298T>C | CA2773038007 | LAMA2 | c.7300+9T>C (n.7300+9T>C) c.7564+9T>C (n.7564+9T>C) n.931+9T>C c.7297+9T>C (n.7297+9T>C) c.7558+9T>C (n.7558+9T>C) c.7570+9T>C (n.7570+9T>C) c.5695+9T>C (n.5695+9T>C) | |
| 6 | g.129465299T>A | CA207908 | LAMA2 | c.7300+10T>A (n.7300+10T>A) c.7564+10T>A (n.7564+10T>A) n.931+10T>A c.7297+10T>A (n.7297+10T>A) c.7558+10T>A (n.7558+10T>A) c.7570+10T>A (n.7570+10T>A) c.5695+10T>A (n.5695+10T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465299T= | CA1663192721 | LAMA2 | c.7300+10T= (n.7300+10T=) c.7564+10T= (n.7564+10T=) n.931+10T= c.7297+10T= (n.7297+10T=) c.7558+10T= (n.7558+10T=) c.7570+10T= (n.7570+10T=) c.5695+10T= (n.5695+10T=) | |
| 6 | g.129465300A>C | CA2773038009 | LAMA2 | c.7300+11A>C (n.7300+11A>C) c.7564+11A>C (n.7564+11A>C) n.931+11A>C c.7297+11A>C (n.7297+11A>C) c.7558+11A>C (n.7558+11A>C) c.7570+11A>C (n.7570+11A>C) c.5695+11A>C (n.5695+11A>C) | |
| 6 | g.129465301C>A | CA2578756822 | LAMA2 | c.7300+12C>A (n.7300+12C>A) c.7564+12C>A (n.7564+12C>A) n.931+12C>A c.7297+12C>A (n.7297+12C>A) c.7558+12C>A (n.7558+12C>A) c.7570+12C>A (n.7570+12C>A) c.5695+12C>A (n.5695+12C>A) | |
| 6 | g.129465301C= | CA1663192725 | LAMA2 | c.7300+12C= (n.7300+12C=) c.7564+12C= (n.7564+12C=) n.931+12C= c.7297+12C= (n.7297+12C=) c.7558+12C= (n.7558+12C=) c.7570+12C= (n.7570+12C=) c.5695+12C= (n.5695+12C=) | |
| 6 | g.129465301C>T | CA3994496 | LAMA2 | c.7300+12C>T (n.7300+12C>T) c.7564+12C>T (n.7564+12C>T) n.931+12C>T c.7297+12C>T (n.7297+12C>T) c.7558+12C>T (n.7558+12C>T) c.7570+12C>T (n.7570+12C>T) c.5695+12C>T (n.5695+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465302A= | CA1663192729 | LAMA2 | c.7300+13A= (n.7300+13A=) c.7564+13A= (n.7564+13A=) n.931+13A= c.7297+13A= (n.7297+13A=) c.7558+13A= (n.7558+13A=) c.7570+13A= (n.7570+13A=) c.5695+13A= (n.5695+13A=) | |
| 6 | g.129465302A>G | CA818844752 | LAMA2 | c.7300+13A>G (n.7300+13A>G) c.7564+13A>G (n.7564+13A>G) n.931+13A>G c.7297+13A>G (n.7297+13A>G) c.7558+13A>G (n.7558+13A>G) c.7570+13A>G (n.7570+13A>G) c.5695+13A>G (n.5695+13A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465303G>C | CA2578756823 | LAMA2 | c.7300+14G>C (n.7300+14G>C) c.7564+14G>C (n.7564+14G>C) n.931+14G>C c.7297+14G>C (n.7297+14G>C) c.7558+14G>C (n.7558+14G>C) c.7570+14G>C (n.7570+14G>C) c.5695+14G>C (n.5695+14G>C) | |
| 6 | g.129465303G= | CA1663192732 | LAMA2 | c.7300+14G= (n.7300+14G=) c.7564+14G= (n.7564+14G=) n.931+14G= c.7297+14G= (n.7297+14G=) c.7558+14G= (n.7558+14G=) c.7570+14G= (n.7570+14G=) c.5695+14G= (n.5695+14G=) | |
| 6 | g.129465303G>T | CA3994497 | LAMA2 | c.7300+14G>T (n.7300+14G>T) c.7564+14G>T (n.7564+14G>T) n.931+14G>T c.7297+14G>T (n.7297+14G>T) c.7558+14G>T (n.7558+14G>T) c.7570+14G>T (n.7570+14G>T) c.5695+14G>T (n.5695+14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465304T>A | CA3994498 | LAMA2 | c.7300+15T>A (n.7300+15T>A) c.7564+15T>A (n.7564+15T>A) n.931+15T>A c.7297+15T>A (n.7297+15T>A) c.7558+15T>A (n.7558+15T>A) c.7570+15T>A (n.7570+15T>A) c.5695+15T>A (n.5695+15T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465304T= | CA1663192734 | LAMA2 | c.7300+15T= (n.7300+15T=) c.7564+15T= (n.7564+15T=) n.931+15T= c.7297+15T= (n.7297+15T=) c.7558+15T= (n.7558+15T=) c.7570+15T= (n.7570+15T=) c.5695+15T= (n.5695+15T=) | |
| 6 | g.129465306A= | CA1663192735 | LAMA2 | c.7300+17A= (n.7300+17A=) c.7564+17A= (n.7564+17A=) n.931+17A= c.7297+17A= (n.7297+17A=) c.7558+17A= (n.7558+17A=) c.7570+17A= (n.7570+17A=) c.5695+17A= (n.5695+17A=) | |
| 6 | g.129465306A>G | CA3994499 | LAMA2 | c.7300+17A>G (n.7300+17A>G) c.7564+17A>G (n.7564+17A>G) n.931+17A>G c.7297+17A>G (n.7297+17A>G) c.7558+17A>G (n.7558+17A>G) c.7570+17A>G (n.7570+17A>G) c.5695+17A>G (n.5695+17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465307del | CA2680307935 | LAMA2 | c.7300+18del (n.7300+18del) c.7564+18del (n.7564+18del) n.931+18del c.7297+18del (n.7297+18del) c.7558+18del (n.7558+18del) c.7570+18del (n.7570+18del) c.5695+18del (n.5695+18del) | gnomAD v4 |
| 6 | g.129465307T>C | CA2573140488 | LAMA2 | c.7300+18T>C (n.7300+18T>C) c.7564+18T>C (n.7564+18T>C) n.931+18T>C c.7297+18T>C (n.7297+18T>C) c.7558+18T>C (n.7558+18T>C) c.7570+18T>C (n.7570+18T>C) c.5695+18T>C (n.5695+18T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465308A= | CA1663192736 | LAMA2 | c.7300+19A= (n.7300+19A=) c.7564+19A= (n.7564+19A=) n.931+19A= c.7297+19A= (n.7297+19A=) c.7558+19A= (n.7558+19A=) c.7570+19A= (n.7570+19A=) c.5695+19A= (n.5695+19A=) | |
| 6 | g.129465308A>G | CA3994500 | LAMA2 | c.7300+19A>G (n.7300+19A>G) c.7564+19A>G (n.7564+19A>G) n.931+19A>G c.7297+19A>G (n.7297+19A>G) c.7558+19A>G (n.7558+19A>G) c.7570+19A>G (n.7570+19A>G) c.5695+19A>G (n.5695+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465309A= | CA1663192737 | LAMA2 | c.7300+20A= (n.7300+20A=) c.7564+20A= (n.7564+20A=) n.931+20A= c.7297+20A= (n.7297+20A=) c.7558+20A= (n.7558+20A=) c.7570+20A= (n.7570+20A=) c.5695+20A= (n.5695+20A=) | |
| 6 | g.129465309A>G | CA570054636 | LAMA2 | c.7300+20A>G (n.7300+20A>G) c.7564+20A>G (n.7564+20A>G) n.931+20A>G c.7297+20A>G (n.7297+20A>G) c.7558+20A>G (n.7558+20A>G) c.7570+20A>G (n.7570+20A>G) c.5695+20A>G (n.5695+20A>G) | dbSNP gnomAD v2 |
| 6 | g.129465310T>A | CA3994501 | LAMA2 | c.7300+21T>A (n.7300+21T>A) c.7564+21T>A (n.7564+21T>A) n.931+21T>A c.7297+21T>A (n.7297+21T>A) c.7558+21T>A (n.7558+21T>A) c.7570+21T>A (n.7570+21T>A) c.5695+21T>A (n.5695+21T>A) | dbSNP ExAC gnomAD v4 |
| 6 | g.129465310T>C | CA3994502 | LAMA2 | c.7300+21T>C (n.7300+21T>C) c.7564+21T>C (n.7564+21T>C) n.931+21T>C c.7297+21T>C (n.7297+21T>C) c.7558+21T>C (n.7558+21T>C) c.7570+21T>C (n.7570+21T>C) c.5695+21T>C (n.5695+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465310T= | CA1663192738 | LAMA2 | c.7300+21T= (n.7300+21T=) c.7564+21T= (n.7564+21T=) n.931+21T= c.7297+21T= (n.7297+21T=) c.7558+21T= (n.7558+21T=) c.7570+21T= (n.7570+21T=) c.5695+21T= (n.5695+21T=) | |
| 6 | g.129465310_129465311insAGGCCTTATACATGATACA | CA818844765 | LAMA2 | c.7300+21_7300+22insAGGCCTTATACATGATACA (n.7300+21_7300+22insAGGCCTTATACATGATACA) c.7564+21_7564+22insAGGCCTTATACATGATACA (n.7564+21_7564+22insAGGCCTTATACATGATACA) n.931+21_931+22insAGGCCTTATACATGATACA c.7297+21_7297+22insAGGCCTTATACATGATACA (n.7297+21_7297+22insAGGCCTTATACATGATACA) c.7558+21_7558+22insAGGCCTTATACATGATACA (n.7558+21_7558+22insAGGCCTTATACATGATACA) c.7570+21_7570+22insAGGCCTTATACATGATACA (n.7570+21_7570+22insAGGCCTTATACATGATACA) c.5695+21_5695+22insAGGCCTTATACATGATACA (n.5695+21_5695+22insAGGCCTTATACATGATACA) | dbSNP gnomAD v4 |
| 6 | g.129465311G>A | CA818844764 | LAMA2 | c.7300+22G>A (n.7300+22G>A) c.7564+22G>A (n.7564+22G>A) n.931+22G>A c.7297+22G>A (n.7297+22G>A) c.7558+22G>A (n.7558+22G>A) c.7570+22G>A (n.7570+22G>A) c.5695+22G>A (n.5695+22G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465311G>C | CA146892232 | LAMA2 | c.7300+22G>C (n.7300+22G>C) c.7564+22G>C (n.7564+22G>C) n.931+22G>C c.7297+22G>C (n.7297+22G>C) c.7558+22G>C (n.7558+22G>C) c.7570+22G>C (n.7570+22G>C) c.5695+22G>C (n.5695+22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465311G= | CA1663192739 | LAMA2 | c.7300+22G= (n.7300+22G=) c.7564+22G= (n.7564+22G=) n.931+22G= c.7297+22G= (n.7297+22G=) c.7558+22G= (n.7558+22G=) c.7570+22G= (n.7570+22G=) c.5695+22G= (n.5695+22G=) | |
| 6 | g.129465311G>T | CA2680307940 | LAMA2 | c.7300+22G>T (n.7300+22G>T) c.7564+22G>T (n.7564+22G>T) n.931+22G>T c.7297+22G>T (n.7297+22G>T) c.7558+22G>T (n.7558+22G>T) c.7570+22G>T (n.7570+22G>T) c.5695+22G>T (n.5695+22G>T) | gnomAD v4 |
| 6 | g.129465312C>A | CA2680307943 | LAMA2 | c.7300+23C>A (n.7300+23C>A) c.7564+23C>A (n.7564+23C>A) n.931+23C>A c.7297+23C>A (n.7297+23C>A) c.7558+23C>A (n.7558+23C>A) c.7570+23C>A (n.7570+23C>A) c.5695+23C>A (n.5695+23C>A) | gnomAD v4 |
| 6 | g.129465314A>C | CA2773038017 | LAMA2 | c.7300+25A>C (n.7300+25A>C) c.7564+25A>C (n.7564+25A>C) n.931+25A>C c.7297+25A>C (n.7297+25A>C) c.7558+25A>C (n.7558+25A>C) c.7570+25A>C (n.7570+25A>C) c.5695+25A>C (n.5695+25A>C) | |
| 6 | g.129465314A>G | CA2680307944 | LAMA2 | c.7300+25A>G (n.7300+25A>G) c.7564+25A>G (n.7564+25A>G) n.931+25A>G c.7297+25A>G (n.7297+25A>G) c.7558+25A>G (n.7558+25A>G) c.7570+25A>G (n.7570+25A>G) c.5695+25A>G (n.5695+25A>G) | gnomAD v4 |
| 6 | g.129465316A= | CA1663192740 | LAMA2 | c.7300+27A= (n.7300+27A=) c.7564+27A= (n.7564+27A=) n.931+27A= c.7297+27A= (n.7297+27A=) c.7558+27A= (n.7558+27A=) c.7570+27A= (n.7570+27A=) c.5695+27A= (n.5695+27A=) | |
| 6 | g.129465316A>C | CA2773038021 | LAMA2 | c.7300+27A>C (n.7300+27A>C) c.7564+27A>C (n.7564+27A>C) n.931+27A>C c.7297+27A>C (n.7297+27A>C) c.7558+27A>C (n.7558+27A>C) c.7570+27A>C (n.7570+27A>C) c.5695+27A>C (n.5695+27A>C) | |
| 6 | g.129465316A>G | CA146892234 | LAMA2 | c.7300+27A>G (n.7300+27A>G) c.7564+27A>G (n.7564+27A>G) n.931+27A>G c.7297+27A>G (n.7297+27A>G) c.7558+27A>G (n.7558+27A>G) c.7570+27A>G (n.7570+27A>G) c.5695+27A>G (n.5695+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465318A>G | CA2713031482 | LAMA2 | c.7300+29A>G (n.7300+29A>G) c.7564+29A>G (n.7564+29A>G) n.931+29A>G c.7297+29A>G (n.7297+29A>G) c.7558+29A>G (n.7558+29A>G) c.7570+29A>G (n.7570+29A>G) c.5695+29A>G (n.5695+29A>G) | dbSNP |
| 6 | g.129465319G>A | CA2773038023 | LAMA2 | c.7300+30G>A (n.7300+30G>A) c.7564+30G>A (n.7564+30G>A) n.931+30G>A c.7297+30G>A (n.7297+30G>A) c.7558+30G>A (n.7558+30G>A) c.7570+30G>A (n.7570+30G>A) c.5695+30G>A (n.5695+30G>A) | |
| 6 | g.129465319G>C | CA146892235 | LAMA2 | c.7300+30G>C (n.7300+30G>C) c.7564+30G>C (n.7564+30G>C) n.931+30G>C c.7297+30G>C (n.7297+30G>C) c.7558+30G>C (n.7558+30G>C) c.7570+30G>C (n.7570+30G>C) c.5695+30G>C (n.5695+30G>C) | dbSNP gnomAD v4 |
| 6 | g.129465319G= | CA1663192741 | LAMA2 | c.7300+30G= (n.7300+30G=) c.7564+30G= (n.7564+30G=) n.931+30G= c.7297+30G= (n.7297+30G=) c.7558+30G= (n.7558+30G=) c.7570+30G= (n.7570+30G=) c.5695+30G= (n.5695+30G=) | |
| 6 | g.129465319G>T | CA1663192742 | LAMA2 | c.7300+30G>T (n.7300+30G>T) c.7564+30G>T (n.7564+30G>T) n.931+30G>T c.7297+30G>T (n.7297+30G>T) c.7558+30G>T (n.7558+30G>T) c.7570+30G>T (n.7570+30G>T) c.5695+30G>T (n.5695+30G>T) | dbSNP |
| 6 | g.129465320G>A | CA3994503 | LAMA2 | c.7300+31G>A (n.7300+31G>A) c.7564+31G>A (n.7564+31G>A) n.931+31G>A c.7297+31G>A (n.7297+31G>A) c.7558+31G>A (n.7558+31G>A) c.7570+31G>A (n.7570+31G>A) c.5695+31G>A (n.5695+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465320G>C | CA3994504 | LAMA2 | c.7300+31G>C (n.7300+31G>C) c.7564+31G>C (n.7564+31G>C) n.931+31G>C c.7297+31G>C (n.7297+31G>C) c.7558+31G>C (n.7558+31G>C) c.7570+31G>C (n.7570+31G>C) c.5695+31G>C (n.5695+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465320G= | CA1663192743 | LAMA2 | c.7300+31G= (n.7300+31G=) c.7564+31G= (n.7564+31G=) n.931+31G= c.7297+31G= (n.7297+31G=) c.7558+31G= (n.7558+31G=) c.7570+31G= (n.7570+31G=) c.5695+31G= (n.5695+31G=) | |
| 6 | g.129465320G>T | CA2680307956 | LAMA2 | c.7300+31G>T (n.7300+31G>T) c.7564+31G>T (n.7564+31G>T) n.931+31G>T c.7297+31G>T (n.7297+31G>T) c.7558+31G>T (n.7558+31G>T) c.7570+31G>T (n.7570+31G>T) c.5695+31G>T (n.5695+31G>T) | gnomAD v4 |
| 6 | g.129465321C>A | CA1094392973 | LAMA2 | c.7300+32C>A (n.7300+32C>A) c.7564+32C>A (n.7564+32C>A) n.931+32C>A c.7297+32C>A (n.7297+32C>A) c.7558+32C>A (n.7558+32C>A) c.7570+32C>A (n.7570+32C>A) c.5695+32C>A (n.5695+32C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465321C= | CA1663192744 | LAMA2 | c.7300+32C= (n.7300+32C=) c.7564+32C= (n.7564+32C=) n.931+32C= c.7297+32C= (n.7297+32C=) c.7558+32C= (n.7558+32C=) c.7570+32C= (n.7570+32C=) c.5695+32C= (n.5695+32C=) | |
| 6 | g.129465321C>G | CA651140127 | LAMA2 | c.7300+32C>G (n.7300+32C>G) c.7564+32C>G (n.7564+32C>G) n.931+32C>G c.7297+32C>G (n.7297+32C>G) c.7558+32C>G (n.7558+32C>G) c.7570+32C>G (n.7570+32C>G) c.5695+32C>G (n.5695+32C>G) | COSMIC |
| 6 | g.129465321C>T | CA451926501 | LAMA2 | c.7300+32C>T (n.7300+32C>T) c.7564+32C>T (n.7564+32C>T) n.931+32C>T c.7297+32C>T (n.7297+32C>T) c.7558+32C>T (n.7558+32C>T) c.7570+32C>T (n.7570+32C>T) c.5695+32C>T (n.5695+32C>T) | gnomAD v4 |
| 6 | g.129465322C>A | CA570054637 | LAMA2 | c.7300+33C>A (n.7300+33C>A) c.7564+33C>A (n.7564+33C>A) n.931+33C>A c.7297+33C>A (n.7297+33C>A) c.7558+33C>A (n.7558+33C>A) c.7570+33C>A (n.7570+33C>A) c.5695+33C>A (n.5695+33C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465322C= | CA1663192745 | LAMA2 | c.7300+33C= (n.7300+33C=) c.7564+33C= (n.7564+33C=) n.931+33C= c.7297+33C= (n.7297+33C=) c.7558+33C= (n.7558+33C=) c.7570+33C= (n.7570+33C=) c.5695+33C= (n.5695+33C=) | |
| 6 | g.129465322C>G | CA2680307964 | LAMA2 | c.7300+33C>G (n.7300+33C>G) c.7564+33C>G (n.7564+33C>G) n.931+33C>G c.7297+33C>G (n.7297+33C>G) c.7558+33C>G (n.7558+33C>G) c.7570+33C>G (n.7570+33C>G) c.5695+33C>G (n.5695+33C>G) | gnomAD v4 |
| 6 | g.129465322C>T | CA2680307966 | LAMA2 | c.7300+33C>T (n.7300+33C>T) c.7564+33C>T (n.7564+33C>T) n.931+33C>T c.7297+33C>T (n.7297+33C>T) c.7558+33C>T (n.7558+33C>T) c.7570+33C>T (n.7570+33C>T) c.5695+33C>T (n.5695+33C>T) | gnomAD v4 |
| 6 | g.129465323T>C | CA570054638 | LAMA2 | c.7300+34T>C (n.7300+34T>C) c.7564+34T>C (n.7564+34T>C) n.931+34T>C c.7297+34T>C (n.7297+34T>C) c.7558+34T>C (n.7558+34T>C) c.7570+34T>C (n.7570+34T>C) c.5695+34T>C (n.5695+34T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465323T= | CA1663192746 | LAMA2 | c.7300+34T= (n.7300+34T=) c.7564+34T= (n.7564+34T=) n.931+34T= c.7297+34T= (n.7297+34T=) c.7558+34T= (n.7558+34T=) c.7570+34T= (n.7570+34T=) c.5695+34T= (n.5695+34T=) | |
| 6 | g.129465324T>A | CA2578756824 | LAMA2 | c.7300+35T>A (n.7300+35T>A) c.7564+35T>A (n.7564+35T>A) n.931+35T>A c.7297+35T>A (n.7297+35T>A) c.7558+35T>A (n.7558+35T>A) c.7570+35T>A (n.7570+35T>A) c.5695+35T>A (n.5695+35T>A) | gnomAD v4 |
| 6 | g.129465324T>C | CA2680307970 | LAMA2 | c.7300+35T>C (n.7300+35T>C) c.7564+35T>C (n.7564+35T>C) n.931+35T>C c.7297+35T>C (n.7297+35T>C) c.7558+35T>C (n.7558+35T>C) c.7570+35T>C (n.7570+35T>C) c.5695+35T>C (n.5695+35T>C) | gnomAD v4 |
| 6 | g.129465324T>G | CA2680307969 | LAMA2 | c.7300+35T>G (n.7300+35T>G) c.7564+35T>G (n.7564+35T>G) n.931+35T>G c.7297+35T>G (n.7297+35T>G) c.7558+35T>G (n.7558+35T>G) c.7570+35T>G (n.7570+35T>G) c.5695+35T>G (n.5695+35T>G) | gnomAD v4 |
| 6 | g.129465325A>G | CA2578756825 | LAMA2 | c.7300+36A>G (n.7300+36A>G) c.7564+36A>G (n.7564+36A>G) n.931+36A>G c.7297+36A>G (n.7297+36A>G) c.7558+36A>G (n.7558+36A>G) c.7570+36A>G (n.7570+36A>G) c.5695+36A>G (n.5695+36A>G) | gnomAD v4 |
| 6 | g.129465326A>G | CA2773038027 | LAMA2 | c.7300+37A>G (n.7300+37A>G) c.7564+37A>G (n.7564+37A>G) n.931+37A>G c.7297+37A>G (n.7297+37A>G) c.7558+37A>G (n.7558+37A>G) c.7570+37A>G (n.7570+37A>G) c.5695+37A>G (n.5695+37A>G) | |
| 6 | g.129465327T>C | CA146892263 | LAMA2 | c.7300+38T>C (n.7300+38T>C) c.7564+38T>C (n.7564+38T>C) n.931+38T>C c.7297+38T>C (n.7297+38T>C) c.7558+38T>C (n.7558+38T>C) c.7570+38T>C (n.7570+38T>C) c.5695+38T>C (n.5695+38T>C) | dbSNP gnomAD v4 |
| 6 | g.129465327T>G | CA3994505 | LAMA2 | c.7300+38T>G (n.7300+38T>G) c.7564+38T>G (n.7564+38T>G) n.931+38T>G c.7297+38T>G (n.7297+38T>G) c.7558+38T>G (n.7558+38T>G) c.7570+38T>G (n.7570+38T>G) c.5695+38T>G (n.5695+38T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465327T= | CA1663192747 | LAMA2 | c.7300+38T= (n.7300+38T=) c.7564+38T= (n.7564+38T=) n.931+38T= c.7297+38T= (n.7297+38T=) c.7558+38T= (n.7558+38T=) c.7570+38T= (n.7570+38T=) c.5695+38T= (n.5695+38T=) | |
| 6 | g.129465328C>A | CA2680307977 | LAMA2 | c.7300+39C>A (n.7300+39C>A) c.7564+39C>A (n.7564+39C>A) n.931+39C>A c.7297+39C>A (n.7297+39C>A) c.7558+39C>A (n.7558+39C>A) c.7570+39C>A (n.7570+39C>A) c.5695+39C>A (n.5695+39C>A) | gnomAD v4 |
| 6 | g.129465329A= | CA1663192748 | LAMA2 | c.7300+40A= (n.7300+40A=) c.7564+40A= (n.7564+40A=) n.931+40A= c.7297+40A= (n.7297+40A=) c.7558+40A= (n.7558+40A=) c.7570+40A= (n.7570+40A=) c.5695+40A= (n.5695+40A=) | |
| 6 | g.129465329A>G | CA570054639 | LAMA2 | c.7300+40A>G (n.7300+40A>G) c.7564+40A>G (n.7564+40A>G) n.931+40A>G c.7297+40A>G (n.7297+40A>G) c.7558+40A>G (n.7558+40A>G) c.7570+40A>G (n.7570+40A>G) c.5695+40A>G (n.5695+40A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465330T>C | CA2680307981 | LAMA2 | c.7300+41T>C (n.7300+41T>C) c.7564+41T>C (n.7564+41T>C) n.931+41T>C c.7297+41T>C (n.7297+41T>C) c.7558+41T>C (n.7558+41T>C) c.7570+41T>C (n.7570+41T>C) c.5695+41T>C (n.5695+41T>C) | gnomAD v4 |
| 6 | g.129465331G>T | CA2680307982 | LAMA2 | c.7300+42G>T (n.7300+42G>T) c.7564+42G>T (n.7564+42G>T) n.931+42G>T c.7297+42G>T (n.7297+42G>T) c.7558+42G>T (n.7558+42G>T) c.7570+42G>T (n.7570+42G>T) c.5695+42G>T (n.5695+42G>T) | gnomAD v4 |
| 6 | g.129465332A>C | CA2773038033 | LAMA2 | c.7300+43A>C (n.7300+43A>C) c.7564+43A>C (n.7564+43A>C) n.931+43A>C c.7297+43A>C (n.7297+43A>C) c.7558+43A>C (n.7558+43A>C) c.7570+43A>C (n.7570+43A>C) c.5695+43A>C (n.5695+43A>C) | |
| 6 | g.129465333A>T | CA2773038035 | LAMA2 | c.7300+44A>T (n.7300+44A>T) c.7564+44A>T (n.7564+44A>T) n.931+44A>T c.7297+44A>T (n.7297+44A>T) c.7558+44A>T (n.7558+44A>T) c.7570+44A>T (n.7570+44A>T) c.5695+44A>T (n.5695+44A>T) | |
| 6 | g.129465334A= | CA1663192749 | LAMA2 | c.7300+45A= (n.7300+45A=) c.7564+45A= (n.7564+45A=) n.931+45A= c.7297+45A= (n.7297+45A=) c.7558+45A= (n.7558+45A=) c.7570+45A= (n.7570+45A=) c.5695+45A= (n.5695+45A=) | |
| 6 | g.129465334A>G | CA2578756826 | LAMA2 | c.7300+45A>G (n.7300+45A>G) c.7564+45A>G (n.7564+45A>G) n.931+45A>G c.7297+45A>G (n.7297+45A>G) c.7558+45A>G (n.7558+45A>G) c.7570+45A>G (n.7570+45A>G) c.5695+45A>G (n.5695+45A>G) | |
| 6 | g.129465334A>T | CA1663192750 | LAMA2 | c.7300+45A>T (n.7300+45A>T) c.7564+45A>T (n.7564+45A>T) n.931+45A>T c.7297+45A>T (n.7297+45A>T) c.7558+45A>T (n.7558+45A>T) c.7570+45A>T (n.7570+45A>T) c.5695+45A>T (n.5695+45A>T) | dbSNP |
| 6 | g.129465335T>C | CA2680307984 | LAMA2 | c.7300+46T>C (n.7300+46T>C) c.7564+46T>C (n.7564+46T>C) n.931+46T>C c.7297+46T>C (n.7297+46T>C) c.7558+46T>C (n.7558+46T>C) c.7570+46T>C (n.7570+46T>C) c.5695+46T>C (n.5695+46T>C) | gnomAD v4 |
| 6 | g.129465336C>A | CA2680307987 | LAMA2 | c.7300+47C>A (n.7300+47C>A) c.7564+47C>A (n.7564+47C>A) n.931+47C>A c.7297+47C>A (n.7297+47C>A) c.7558+47C>A (n.7558+47C>A) c.7570+47C>A (n.7570+47C>A) c.5695+47C>A (n.5695+47C>A) | gnomAD v4 |
| 6 | g.129465336C= | CA1663192751 | LAMA2 | c.7300+47C= (n.7300+47C=) c.7564+47C= (n.7564+47C=) n.931+47C= c.7297+47C= (n.7297+47C=) c.7558+47C= (n.7558+47C=) c.7570+47C= (n.7570+47C=) c.5695+47C= (n.5695+47C=) | |
| 6 | g.129465336_129465337insT | CA570054640 | LAMA2 | c.7300+47_7300+48insT (n.7300+47_7300+48insT) c.7564+47_7564+48insT (n.7564+47_7564+48insT) n.931+47_931+48insT c.7297+47_7297+48insT (n.7297+47_7297+48insT) c.7558+47_7558+48insT (n.7558+47_7558+48insT) c.7570+47_7570+48insT (n.7570+47_7570+48insT) c.5695+47_5695+48insT (n.5695+47_5695+48insT) | dbSNP gnomAD v2 |
| 6 | g.129465337C>A | CA2680307990 | LAMA2 | c.7300+48C>A (n.7300+48C>A) c.7564+48C>A (n.7564+48C>A) n.931+48C>A c.7297+48C>A (n.7297+48C>A) c.7558+48C>A (n.7558+48C>A) c.7570+48C>A (n.7570+48C>A) c.5695+48C>A (n.5695+48C>A) | gnomAD v4 |
| 6 | g.129465337C= | CA1663192752 | LAMA2 | c.7300+48C= (n.7300+48C=) c.7564+48C= (n.7564+48C=) n.931+48C= c.7297+48C= (n.7297+48C=) c.7558+48C= (n.7558+48C=) c.7570+48C= (n.7570+48C=) c.5695+48C= (n.5695+48C=) | |
| 6 | g.129465337C>T | CA2680307991 | LAMA2 | c.7300+48C>T (n.7300+48C>T) c.7564+48C>T (n.7564+48C>T) n.931+48C>T c.7297+48C>T (n.7297+48C>T) c.7558+48C>T (n.7558+48C>T) c.7570+48C>T (n.7570+48C>T) c.5695+48C>T (n.5695+48C>T) | gnomAD v4 |
| 6 | g.129465337_129465338delinsCA | CA1663192753 | LAMA2 | c.7300+48_7300+49delinsCA (n.7300+48_7300+49delinsCA) c.7564+48_7564+49delinsCA (n.7564+48_7564+49delinsCA) n.931+48_931+49delinsCA c.7297+48_7297+49delinsCA (n.7297+48_7297+49delinsCA) c.7558+48_7558+49delinsCA (n.7558+48_7558+49delinsCA) c.7570+48_7570+49delinsCA (n.7570+48_7570+49delinsCA) c.5695+48_5695+49delinsCA (n.5695+48_5695+49delinsCA) | |
| 6 | g.129465337_129465338insTCTATT | CA570054641 | LAMA2 | c.7300+48_7300+49insTCTATT (n.7300+48_7300+49insTCTATT) c.7564+48_7564+49insTCTATT (n.7564+48_7564+49insTCTATT) n.931+48_931+49insTCTATT c.7297+48_7297+49insTCTATT (n.7297+48_7297+49insTCTATT) c.7558+48_7558+49insTCTATT (n.7558+48_7558+49insTCTATT) c.7570+48_7570+49insTCTATT (n.7570+48_7570+49insTCTATT) c.5695+48_5695+49insTCTATT (n.5695+48_5695+49insTCTATT) | dbSNP gnomAD v2 |
| 6 | g.129465338A= | CA1663192754 | LAMA2 | c.7300+49A= (n.7300+49A=) c.7564+49A= (n.7564+49A=) n.931+49A= c.7297+49A= (n.7297+49A=) c.7558+49A= (n.7558+49A=) c.7570+49A= (n.7570+49A=) c.5695+49A= (n.5695+49A=) | |
| 6 | g.129465338A>G | CA3994506 | LAMA2 | c.7300+49A>G (n.7300+49A>G) c.7564+49A>G (n.7564+49A>G) n.931+49A>G c.7297+49A>G (n.7297+49A>G) c.7558+49A>G (n.7558+49A>G) c.7570+49A>G (n.7570+49A>G) c.5695+49A>G (n.5695+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465340del | CA1094392975 | LAMA2 | c.7300+51del (n.7300+51del) c.7564+51del (n.7564+51del) n.931+51del c.7297+51del (n.7297+51del) c.7558+51del (n.7558+51del) c.7570+51del (n.7570+51del) c.5695+51del (n.5695+51del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465341G>A | CA2680308005 | LAMA2 | c.7300+52G>A (n.7300+52G>A) c.7564+52G>A (n.7564+52G>A) n.931+52G>A c.7297+52G>A (n.7297+52G>A) c.7558+52G>A (n.7558+52G>A) c.7570+52G>A (n.7570+52G>A) c.5695+52G>A (n.5695+52G>A) | gnomAD v4 |
| 6 | g.129465341G>C | CA2578756827 | LAMA2 | c.7300+52G>C (n.7300+52G>C) c.7564+52G>C (n.7564+52G>C) n.931+52G>C c.7297+52G>C (n.7297+52G>C) c.7558+52G>C (n.7558+52G>C) c.7570+52G>C (n.7570+52G>C) c.5695+52G>C (n.5695+52G>C) | |
| 6 | g.129465341G>T | CA2680308003 | LAMA2 | c.7300+52G>T (n.7300+52G>T) c.7564+52G>T (n.7564+52G>T) n.931+52G>T c.7297+52G>T (n.7297+52G>T) c.7558+52G>T (n.7558+52G>T) c.7570+52G>T (n.7570+52G>T) c.5695+52G>T (n.5695+52G>T) | gnomAD v4 |
| 6 | g.129465342T>A | CA146892280 | LAMA2 | c.7300+53T>A (n.7300+53T>A) c.7564+53T>A (n.7564+53T>A) n.931+53T>A c.7297+53T>A (n.7297+53T>A) c.7558+53T>A (n.7558+53T>A) c.7570+53T>A (n.7570+53T>A) c.5695+53T>A (n.5695+53T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465342T>C | CA2680308010 | LAMA2 | c.7300+53T>C (n.7300+53T>C) c.7564+53T>C (n.7564+53T>C) n.931+53T>C c.7297+53T>C (n.7297+53T>C) c.7558+53T>C (n.7558+53T>C) c.7570+53T>C (n.7570+53T>C) c.5695+53T>C (n.5695+53T>C) | gnomAD v4 |
| 6 | g.129465342T>G | CA2680308012 | LAMA2 | c.7300+53T>G (n.7300+53T>G) c.7564+53T>G (n.7564+53T>G) n.931+53T>G c.7297+53T>G (n.7297+53T>G) c.7558+53T>G (n.7558+53T>G) c.7570+53T>G (n.7570+53T>G) c.5695+53T>G (n.5695+53T>G) | gnomAD v4 |
| 6 | g.129465342T= | CA1663154391 | LAMA2 | c.7300+53T= (n.7300+53T=) c.7564+53T= (n.7564+53T=) n.931+53T= c.7297+53T= (n.7297+53T=) c.7558+53T= (n.7558+53T=) c.7570+53T= (n.7570+53T=) c.5695+53T= (n.5695+53T=) | |
| 6 | g.129465343G>A | CA2680308015 | LAMA2 | c.7300+54G>A (n.7300+54G>A) c.7564+54G>A (n.7564+54G>A) n.931+54G>A c.7297+54G>A (n.7297+54G>A) c.7558+54G>A (n.7558+54G>A) c.7570+54G>A (n.7570+54G>A) c.5695+54G>A (n.5695+54G>A) | gnomAD v4 |
| 6 | g.129465343G>T | CA2680308016 | LAMA2 | c.7300+54G>T (n.7300+54G>T) c.7564+54G>T (n.7564+54G>T) n.931+54G>T c.7297+54G>T (n.7297+54G>T) c.7558+54G>T (n.7558+54G>T) c.7570+54G>T (n.7570+54G>T) c.5695+54G>T (n.5695+54G>T) | gnomAD v4 |
| 6 | g.129465344C>A | CA2680308017 | LAMA2 | c.7300+55C>A (n.7300+55C>A) c.7564+55C>A (n.7564+55C>A) n.931+55C>A c.7297+55C>A (n.7297+55C>A) c.7558+55C>A (n.7558+55C>A) c.7570+55C>A (n.7570+55C>A) c.5695+55C>A (n.5695+55C>A) | gnomAD v4 |
| 6 | g.129465344C= | CA1663154403 | LAMA2 | c.7300+55C= (n.7300+55C=) c.7564+55C= (n.7564+55C=) n.931+55C= c.7297+55C= (n.7297+55C=) c.7558+55C= (n.7558+55C=) c.7570+55C= (n.7570+55C=) c.5695+55C= (n.5695+55C=) | |
| 6 | g.129465344C>T | CA1663154407 | LAMA2 | c.7300+55C>T (n.7300+55C>T) c.7564+55C>T (n.7564+55C>T) n.931+55C>T c.7297+55C>T (n.7297+55C>T) c.7558+55C>T (n.7558+55C>T) c.7570+55C>T (n.7570+55C>T) c.5695+55C>T (n.5695+55C>T) | dbSNP gnomAD v4 |