| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23898812T>A | CA503331890 | LAMA3 | c.861T>A (p.Thr287=) c.5688T>A (p.Thr1896=) c.2580T>A (p.Thr860=) n.76T>A c.466T>A n.266T>A c.5715T>A (p.Thr1905=) c.5706T>A (p.Thr1902=) c.5697T>A (p.Thr1899=) c.5583T>A (p.Thr1861=) c.3567T>A (p.Thr1189=) c.1257T>A (p.Thr419=) n.5956T>A | |
| 18 | g.23898812T>C | CA503331891 | LAMA3 | c.861T>C (p.Thr287=) c.5688T>C (p.Thr1896=) c.2580T>C (p.Thr860=) n.76T>C c.466T>C n.266T>C c.5715T>C (p.Thr1905=) c.5706T>C (p.Thr1902=) c.5697T>C (p.Thr1899=) c.5583T>C (p.Thr1861=) c.3567T>C (p.Thr1189=) c.1257T>C (p.Thr419=) n.5956T>C | |
| 18 | g.23898812T>G | CA503331893 | LAMA3 | c.861T>G (p.Thr287=) c.5688T>G (p.Thr1896=) c.2580T>G (p.Thr860=) n.76T>G c.466T>G n.266T>G c.5715T>G (p.Thr1905=) c.5706T>G (p.Thr1902=) c.5697T>G (p.Thr1899=) c.5583T>G (p.Thr1861=) c.3567T>G (p.Thr1189=) c.1257T>G (p.Thr419=) n.5956T>G | |
| 18 | g.23898812dup | CA16041932 | LAMA3 | c.861dup (p.Asp288Ter) c.5688dup (p.Asp1897Ter) c.2580dup (p.Asp861Ter) n.76dup c.466dup n.266dup c.5715dup (p.Asp1906Ter) c.5706dup (p.Asp1903Ter) c.5697dup (p.Asp1900Ter) c.5583dup (p.Asp1862Ter) c.3567dup (p.Asp1190Ter) c.1257dup (p.Asp420Ter) n.5956dup | ClinVar dbSNP |
| 18 | g.23898813G>A | CA402046459 | LAMA3 | c.862G>A (p.Asp288Asn) c.5689G>A (p.Asp1897Asn) c.2581G>A (p.Asp861Asn) n.77G>A c.467G>A n.267G>A c.5716G>A (p.Asp1906Asn) c.5707G>A (p.Asp1903Asn) c.5698G>A (p.Asp1900Asn) c.5584G>A (p.Asp1862Asn) c.3568G>A (p.Asp1190Asn) c.1258G>A (p.Asp420Asn) n.5957G>A | |
| 18 | g.23898813G>C | CA402046460 | LAMA3 | c.862G>C (p.Asp288His) c.5689G>C (p.Asp1897His) c.2581G>C (p.Asp861His) n.77G>C c.467G>C n.267G>C c.5716G>C (p.Asp1906His) c.5707G>C (p.Asp1903His) c.5698G>C (p.Asp1900His) c.5584G>C (p.Asp1862His) c.3568G>C (p.Asp1190His) c.1258G>C (p.Asp420His) n.5957G>C | |
| 18 | g.23898813G>T | CA402046461 | LAMA3 | c.862G>T (p.Asp288Tyr) c.5689G>T (p.Asp1897Tyr) c.2581G>T (p.Asp861Tyr) n.77G>T c.467G>T n.267G>T c.5716G>T (p.Asp1906Tyr) c.5707G>T (p.Asp1903Tyr) c.5698G>T (p.Asp1900Tyr) c.5584G>T (p.Asp1862Tyr) c.3568G>T (p.Asp1190Tyr) c.1258G>T (p.Asp420Tyr) n.5957G>T | gnomAD v4 |
| 18 | g.23898814A>C | CA402046462 | LAMA3 | c.863A>C (p.Asp288Ala) c.5690A>C (p.Asp1897Ala) c.2582A>C (p.Asp861Ala) n.78A>C c.468A>C n.268A>C c.5717A>C (p.Asp1906Ala) c.5708A>C (p.Asp1903Ala) c.5699A>C (p.Asp1900Ala) c.5585A>C (p.Asp1862Ala) c.3569A>C (p.Asp1190Ala) c.1259A>C (p.Asp420Ala) n.5958A>C | |
| 18 | g.23898814A>G | CA402046463 | LAMA3 | c.863A>G (p.Asp288Gly) c.5690A>G (p.Asp1897Gly) c.2582A>G (p.Asp861Gly) n.78A>G c.468A>G n.268A>G c.5717A>G (p.Asp1906Gly) c.5708A>G (p.Asp1903Gly) c.5699A>G (p.Asp1900Gly) c.5585A>G (p.Asp1862Gly) c.3569A>G (p.Asp1190Gly) c.1259A>G (p.Asp420Gly) n.5958A>G | |
| 18 | g.23898814A>T | CA402046464 | LAMA3 | c.863A>T (p.Asp288Val) c.5690A>T (p.Asp1897Val) c.2582A>T (p.Asp861Val) n.78A>T c.468A>T n.268A>T c.5717A>T (p.Asp1906Val) c.5708A>T (p.Asp1903Val) c.5699A>T (p.Asp1900Val) c.5585A>T (p.Asp1862Val) c.3569A>T (p.Asp1190Val) c.1259A>T (p.Asp420Val) n.5958A>T | |
| 18 | g.23898815T>A | CA402046465 | LAMA3 | c.864T>A (p.Asp288Glu) c.5691T>A (p.Asp1897Glu) c.2583T>A (p.Asp861Glu) n.79T>A c.469T>A n.269T>A c.5718T>A (p.Asp1906Glu) c.5709T>A (p.Asp1903Glu) c.5700T>A (p.Asp1900Glu) c.5586T>A (p.Asp1862Glu) c.3570T>A (p.Asp1190Glu) c.1260T>A (p.Asp420Glu) n.5959T>A | |
| 18 | g.23898815T>C | CA503331894 | LAMA3 | c.864T>C (p.Asp288=) c.5691T>C (p.Asp1897=) c.2583T>C (p.Asp861=) n.79T>C c.469T>C n.269T>C c.5718T>C (p.Asp1906=) c.5709T>C (p.Asp1903=) c.5700T>C (p.Asp1900=) c.5586T>C (p.Asp1862=) c.3570T>C (p.Asp1190=) c.1260T>C (p.Asp420=) n.5959T>C | |
| 18 | g.23898815T>G | CA402046466 | LAMA3 | c.864T>G (p.Asp288Glu) c.5691T>G (p.Asp1897Glu) c.2583T>G (p.Asp861Glu) n.79T>G c.469T>G n.269T>G c.5718T>G (p.Asp1906Glu) c.5709T>G (p.Asp1903Glu) c.5700T>G (p.Asp1900Glu) c.5586T>G (p.Asp1862Glu) c.3570T>G (p.Asp1190Glu) c.1260T>G (p.Asp420Glu) n.5959T>G | |
| 18 | g.23898816T>A | CA402046468 | LAMA3 | c.865T>A (p.Leu289Met) c.5692T>A (p.Leu1898Met) c.2584T>A (p.Leu862Met) n.80T>A c.470T>A n.270T>A c.5719T>A (p.Leu1907Met) c.5710T>A (p.Leu1904Met) c.5701T>A (p.Leu1901Met) c.5587T>A (p.Leu1863Met) c.3571T>A (p.Leu1191Met) c.1261T>A (p.Leu421Met) n.5960T>A | |
| 18 | g.23898816T>C | CA8916138 | LAMA3 | c.865T>C (p.Leu289=) c.5692T>C (p.Leu1898=) c.2584T>C (p.Leu862=) n.80T>C c.470T>C n.270T>C c.5719T>C (p.Leu1907=) c.5710T>C (p.Leu1904=) c.5701T>C (p.Leu1901=) c.5587T>C (p.Leu1863=) c.3571T>C (p.Leu1191=) c.1261T>C (p.Leu421=) n.5960T>C | dbSNP ExAC |
| 18 | g.23898816T>G | CA402046467 | LAMA3 | c.865T>G (p.Leu289Val) c.5692T>G (p.Leu1898Val) c.2584T>G (p.Leu862Val) n.80T>G c.470T>G n.270T>G c.5719T>G (p.Leu1907Val) c.5710T>G (p.Leu1904Val) c.5701T>G (p.Leu1901Val) c.5587T>G (p.Leu1863Val) c.3571T>G (p.Leu1191Val) c.1261T>G (p.Leu421Val) n.5960T>G | |
| 18 | g.23898816T= | CA2290322187 | LAMA3 | c.865T= (p.Leu289=) c.5692T= (p.Leu1898=) c.2584T= (p.Leu862=) n.80T= c.470T= n.270T= c.5719T= (p.Leu1907=) c.5710T= (p.Leu1904=) c.5701T= (p.Leu1901=) c.5587T= (p.Leu1863=) c.3571T= (p.Leu1191=) c.1261T= (p.Leu421=) n.5960T= | |
| 18 | g.23898817T>A | CA402046469 | LAMA3 | c.866T>A (p.Leu289Ter) c.5693T>A (p.Leu1898Ter) c.2585T>A (p.Leu862Ter) n.81T>A c.471T>A n.271T>A c.5720T>A (p.Leu1907Ter) c.5711T>A (p.Leu1904Ter) c.5702T>A (p.Leu1901Ter) c.5588T>A (p.Leu1863Ter) c.3572T>A (p.Leu1191Ter) c.1262T>A (p.Leu421Ter) n.5961T>A | |
| 18 | g.23898817T>C | CA402046470 | LAMA3 | c.866T>C (p.Leu289Ser) c.5693T>C (p.Leu1898Ser) c.2585T>C (p.Leu862Ser) n.81T>C c.471T>C n.271T>C c.5720T>C (p.Leu1907Ser) c.5711T>C (p.Leu1904Ser) c.5702T>C (p.Leu1901Ser) c.5588T>C (p.Leu1863Ser) c.3572T>C (p.Leu1191Ser) c.1262T>C (p.Leu421Ser) n.5961T>C | |
| 18 | g.23898817T>G | CA402046471 | LAMA3 | c.866T>G (p.Leu289Trp) c.5693T>G (p.Leu1898Trp) c.2585T>G (p.Leu862Trp) n.81T>G c.471T>G n.271T>G c.5720T>G (p.Leu1907Trp) c.5711T>G (p.Leu1904Trp) c.5702T>G (p.Leu1901Trp) c.5588T>G (p.Leu1863Trp) c.3572T>G (p.Leu1191Trp) c.1262T>G (p.Leu421Trp) n.5961T>G | |
| 18 | g.23898818G>A | CA8916139 | LAMA3 | c.867G>A (p.Leu289=) c.5694G>A (p.Leu1898=) c.2586G>A (p.Leu862=) n.82G>A c.472G>A n.272G>A c.5721G>A (p.Leu1907=) c.5712G>A (p.Leu1904=) c.5703G>A (p.Leu1901=) c.5589G>A (p.Leu1863=) c.3573G>A (p.Leu1191=) c.1263G>A (p.Leu421=) n.5962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23898818G>C | CA402046472 | LAMA3 | c.867G>C (p.Leu289Phe) c.5694G>C (p.Leu1898Phe) c.2586G>C (p.Leu862Phe) n.82G>C c.472G>C n.272G>C c.5721G>C (p.Leu1907Phe) c.5712G>C (p.Leu1904Phe) c.5703G>C (p.Leu1901Phe) c.5589G>C (p.Leu1863Phe) c.3573G>C (p.Leu1191Phe) c.1263G>C (p.Leu421Phe) n.5962G>C | |
| 18 | g.23898818G= | CA2290322188 | LAMA3 | c.867G= (p.Leu289=) c.5694G= (p.Leu1898=) c.2586G= (p.Leu862=) n.82G= c.472G= n.272G= c.5721G= (p.Leu1907=) c.5712G= (p.Leu1904=) c.5703G= (p.Leu1901=) c.5589G= (p.Leu1863=) c.3573G= (p.Leu1191=) c.1263G= (p.Leu421=) n.5962G= | |
| 18 | g.23898818G>T | CA402046473 | LAMA3 | c.867G>T (p.Leu289Phe) c.5694G>T (p.Leu1898Phe) c.2586G>T (p.Leu862Phe) n.82G>T c.472G>T n.272G>T c.5721G>T (p.Leu1907Phe) c.5712G>T (p.Leu1904Phe) c.5703G>T (p.Leu1901Phe) c.5589G>T (p.Leu1863Phe) c.3573G>T (p.Leu1191Phe) c.1263G>T (p.Leu421Phe) n.5962G>T | gnomAD v4 |
| 18 | g.23898819A>C | CA402046474 | LAMA3 | c.868A>C (p.Asn290His) c.5695A>C (p.Asn1899His) c.2587A>C (p.Asn863His) n.83A>C c.473A>C n.273A>C c.5722A>C (p.Asn1908His) c.5713A>C (p.Asn1905His) c.5704A>C (p.Asn1902His) c.5590A>C (p.Asn1864His) c.3574A>C (p.Asn1192His) c.1264A>C (p.Asn422His) n.5963A>C | |
| 18 | g.23898819A>G | CA402046475 | LAMA3 | c.868A>G (p.Asn290Asp) c.5695A>G (p.Asn1899Asp) c.2587A>G (p.Asn863Asp) n.83A>G c.473A>G n.273A>G c.5722A>G (p.Asn1908Asp) c.5713A>G (p.Asn1905Asp) c.5704A>G (p.Asn1902Asp) c.5590A>G (p.Asn1864Asp) c.3574A>G (p.Asn1192Asp) c.1264A>G (p.Asn422Asp) n.5963A>G | gnomAD v4 |
| 18 | g.23898819A>T | CA402046476 | LAMA3 | c.868A>T (p.Asn290Tyr) c.5695A>T (p.Asn1899Tyr) c.2587A>T (p.Asn863Tyr) n.83A>T c.473A>T n.273A>T c.5722A>T (p.Asn1908Tyr) c.5713A>T (p.Asn1905Tyr) c.5704A>T (p.Asn1902Tyr) c.5590A>T (p.Asn1864Tyr) c.3574A>T (p.Asn1192Tyr) c.1264A>T (p.Asn422Tyr) n.5963A>T | |
| 18 | g.23898820A>C | CA402046477 | LAMA3 | c.869A>C (p.Asn290Thr) c.5696A>C (p.Asn1899Thr) c.2588A>C (p.Asn863Thr) n.84A>C c.474A>C n.274A>C c.5723A>C (p.Asn1908Thr) c.5714A>C (p.Asn1905Thr) c.5705A>C (p.Asn1902Thr) c.5591A>C (p.Asn1864Thr) c.3575A>C (p.Asn1192Thr) c.1265A>C (p.Asn422Thr) n.5964A>C | |
| 18 | g.23898820A>G | CA402046478 | LAMA3 | c.869A>G (p.Asn290Ser) c.5696A>G (p.Asn1899Ser) c.2588A>G (p.Asn863Ser) n.84A>G c.474A>G n.274A>G c.5723A>G (p.Asn1908Ser) c.5714A>G (p.Asn1905Ser) c.5705A>G (p.Asn1902Ser) c.5591A>G (p.Asn1864Ser) c.3575A>G (p.Asn1192Ser) c.1265A>G (p.Asn422Ser) n.5964A>G | |
| 18 | g.23898820A>T | CA402046479 | LAMA3 | c.869A>T (p.Asn290Ile) c.5696A>T (p.Asn1899Ile) c.2588A>T (p.Asn863Ile) n.84A>T c.474A>T n.274A>T c.5723A>T (p.Asn1908Ile) c.5714A>T (p.Asn1905Ile) c.5705A>T (p.Asn1902Ile) c.5591A>T (p.Asn1864Ile) c.3575A>T (p.Asn1192Ile) c.1265A>T (p.Asn422Ile) n.5964A>T | |
| 18 | g.23898821T>A | CA402046481 | LAMA3 | c.870T>A (p.Asn290Lys) c.5697T>A (p.Asn1899Lys) c.2589T>A (p.Asn863Lys) n.85T>A c.475T>A n.275T>A c.5724T>A (p.Asn1908Lys) c.5715T>A (p.Asn1905Lys) c.5706T>A (p.Asn1902Lys) c.5592T>A (p.Asn1864Lys) c.3576T>A (p.Asn1192Lys) c.1266T>A (p.Asn422Lys) n.5965T>A | |
| 18 | g.23898821T>C | CA503331896 | LAMA3 | c.870T>C (p.Asn290=) c.5697T>C (p.Asn1899=) c.2589T>C (p.Asn863=) n.85T>C c.475T>C n.275T>C c.5724T>C (p.Asn1908=) c.5715T>C (p.Asn1905=) c.5706T>C (p.Asn1902=) c.5592T>C (p.Asn1864=) c.3576T>C (p.Asn1192=) c.1266T>C (p.Asn422=) n.5965T>C | |
| 18 | g.23898821T>G | CA402046480 | LAMA3 | c.870T>G (p.Asn290Lys) c.5697T>G (p.Asn1899Lys) c.2589T>G (p.Asn863Lys) n.85T>G c.475T>G n.275T>G c.5724T>G (p.Asn1908Lys) c.5715T>G (p.Asn1905Lys) c.5706T>G (p.Asn1902Lys) c.5592T>G (p.Asn1864Lys) c.3576T>G (p.Asn1192Lys) c.1266T>G (p.Asn422Lys) n.5965T>G | |
| 18 | g.23898822C>A | CA402046482 | LAMA3 | c.871C>A (p.Gln291Lys) c.5698C>A (p.Gln1900Lys) c.2590C>A (p.Gln864Lys) n.86C>A c.476C>A n.276C>A c.5725C>A (p.Gln1909Lys) c.5716C>A (p.Gln1906Lys) c.5707C>A (p.Gln1903Lys) c.5593C>A (p.Gln1865Lys) c.3577C>A (p.Gln1193Lys) c.1267C>A (p.Gln423Lys) n.5966C>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23898822C= | CA2290322189 | LAMA3 | c.871C= (p.Gln291=) c.5698C= (p.Gln1900=) c.2590C= (p.Gln864=) n.86C= c.476C= n.276C= c.5725C= (p.Gln1909=) c.5716C= (p.Gln1906=) c.5707C= (p.Gln1903=) c.5593C= (p.Gln1865=) c.3577C= (p.Gln1193=) c.1267C= (p.Gln423=) n.5966C= | |
| 18 | g.23898822C>G | CA402046483 | LAMA3 | c.871C>G (p.Gln291Glu) c.5698C>G (p.Gln1900Glu) c.2590C>G (p.Gln864Glu) n.86C>G c.476C>G n.276C>G c.5725C>G (p.Gln1909Glu) c.5716C>G (p.Gln1906Glu) c.5707C>G (p.Gln1903Glu) c.5593C>G (p.Gln1865Glu) c.3577C>G (p.Gln1193Glu) c.1267C>G (p.Gln423Glu) n.5966C>G | |
| 18 | g.23898822C>T | CA402046484 | LAMA3 | c.871C>T (p.Gln291Ter) c.5698C>T (p.Gln1900Ter) c.2590C>T (p.Gln864Ter) n.86C>T c.476C>T n.276C>T c.5725C>T (p.Gln1909Ter) c.5716C>T (p.Gln1906Ter) c.5707C>T (p.Gln1903Ter) c.5593C>T (p.Gln1865Ter) c.3577C>T (p.Gln1193Ter) c.1267C>T (p.Gln423Ter) n.5966C>T | |
| 18 | g.23898823A>C | CA402046485 | LAMA3 | c.872A>C (p.Gln291Pro) c.5699A>C (p.Gln1900Pro) c.2591A>C (p.Gln864Pro) n.87A>C c.477A>C n.277A>C c.5726A>C (p.Gln1909Pro) c.5717A>C (p.Gln1906Pro) c.5708A>C (p.Gln1903Pro) c.5594A>C (p.Gln1865Pro) c.3578A>C (p.Gln1193Pro) c.1268A>C (p.Gln423Pro) n.5967A>C | |
| 18 | g.23898823A>G | CA402046486 | LAMA3 | c.872A>G (p.Gln291Arg) c.5699A>G (p.Gln1900Arg) c.2591A>G (p.Gln864Arg) n.87A>G c.477A>G n.277A>G c.5726A>G (p.Gln1909Arg) c.5717A>G (p.Gln1906Arg) c.5708A>G (p.Gln1903Arg) c.5594A>G (p.Gln1865Arg) c.3578A>G (p.Gln1193Arg) c.1268A>G (p.Gln423Arg) n.5967A>G | |
| 18 | g.23898823A>T | CA402046487 | LAMA3 | c.872A>T (p.Gln291Leu) c.5699A>T (p.Gln1900Leu) c.2591A>T (p.Gln864Leu) n.87A>T c.477A>T n.277A>T c.5726A>T (p.Gln1909Leu) c.5717A>T (p.Gln1906Leu) c.5708A>T (p.Gln1903Leu) c.5594A>T (p.Gln1865Leu) c.3578A>T (p.Gln1193Leu) c.1268A>T (p.Gln423Leu) n.5967A>T | |
| 18 | g.23898824A= | CA2290322190 | LAMA3 | c.873A= (p.Gln291=) c.5700A= (p.Gln1900=) c.2592A= (p.Gln864=) n.88A= c.478A= n.278A= c.5727A= (p.Gln1909=) c.5718A= (p.Gln1906=) c.5709A= (p.Gln1903=) c.5595A= (p.Gln1865=) c.3579A= (p.Gln1193=) c.1269A= (p.Gln423=) n.5968A= | |
| 18 | g.23898824A>C | CA402046488 | LAMA3 | c.873A>C (p.Gln291His) c.5700A>C (p.Gln1900His) c.2592A>C (p.Gln864His) n.88A>C c.478A>C n.278A>C c.5727A>C (p.Gln1909His) c.5718A>C (p.Gln1906His) c.5709A>C (p.Gln1903His) c.5595A>C (p.Gln1865His) c.3579A>C (p.Gln1193His) c.1269A>C (p.Gln423His) n.5968A>C | |
| 18 | g.23898824A>G | CA8916140 | LAMA3 | c.873A>G (p.Gln291=) c.5700A>G (p.Gln1900=) c.2592A>G (p.Gln864=) n.88A>G c.478A>G n.278A>G c.5727A>G (p.Gln1909=) c.5718A>G (p.Gln1906=) c.5709A>G (p.Gln1903=) c.5595A>G (p.Gln1865=) c.3579A>G (p.Gln1193=) c.1269A>G (p.Gln423=) n.5968A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23898824A>T | CA402046489 | LAMA3 | c.873A>T (p.Gln291His) c.5700A>T (p.Gln1900His) c.2592A>T (p.Gln864His) n.88A>T c.478A>T n.278A>T c.5727A>T (p.Gln1909His) c.5718A>T (p.Gln1906His) c.5709A>T (p.Gln1903His) c.5595A>T (p.Gln1865His) c.3579A>T (p.Gln1193His) c.1269A>T (p.Gln423His) n.5968A>T | |
| 18 | g.23898825G>A | CA402046490 | LAMA3 | c.874G>A (p.Glu292Lys) c.5701G>A (p.Glu1901Lys) c.2593G>A (p.Glu865Lys) n.89G>A c.479G>A n.279G>A c.5728G>A (p.Glu1910Lys) c.5719G>A (p.Glu1907Lys) c.5710G>A (p.Glu1904Lys) c.5596G>A (p.Glu1866Lys) c.3580G>A (p.Glu1194Lys) c.1270G>A (p.Glu424Lys) n.5969G>A | |
| 18 | g.23898825G>C | CA402046491 | LAMA3 | c.874G>C (p.Glu292Gln) c.5701G>C (p.Glu1901Gln) c.2593G>C (p.Glu865Gln) n.89G>C c.479G>C n.279G>C c.5728G>C (p.Glu1910Gln) c.5719G>C (p.Glu1907Gln) c.5710G>C (p.Glu1904Gln) c.5596G>C (p.Glu1866Gln) c.3580G>C (p.Glu1194Gln) c.1270G>C (p.Glu424Gln) n.5969G>C | |
| 18 | g.23898825G>T | CA402046492 | LAMA3 | c.874G>T (p.Glu292Ter) c.5701G>T (p.Glu1901Ter) c.2593G>T (p.Glu865Ter) n.89G>T c.479G>T n.279G>T c.5728G>T (p.Glu1910Ter) c.5719G>T (p.Glu1907Ter) c.5710G>T (p.Glu1904Ter) c.5596G>T (p.Glu1866Ter) c.3580G>T (p.Glu1194Ter) c.1270G>T (p.Glu424Ter) n.5969G>T | gnomAD v4 COSMIC COSMIC |
| 18 | g.23898826A>C | CA402046494 | LAMA3 | c.875A>C (p.Glu292Ala) c.5702A>C (p.Glu1901Ala) c.2594A>C (p.Glu865Ala) n.90A>C c.480A>C n.280A>C c.5729A>C (p.Glu1910Ala) c.5720A>C (p.Glu1907Ala) c.5711A>C (p.Glu1904Ala) c.5597A>C (p.Glu1866Ala) c.3581A>C (p.Glu1194Ala) c.1271A>C (p.Glu424Ala) n.5970A>C | |
| 18 | g.23898826A>G | CA402046495 | LAMA3 | c.875A>G (p.Glu292Gly) c.5702A>G (p.Glu1901Gly) c.2594A>G (p.Glu865Gly) n.90A>G c.480A>G n.280A>G c.5729A>G (p.Glu1910Gly) c.5720A>G (p.Glu1907Gly) c.5711A>G (p.Glu1904Gly) c.5597A>G (p.Glu1866Gly) c.3581A>G (p.Glu1194Gly) c.1271A>G (p.Glu424Gly) n.5970A>G | gnomAD v4 |
| 18 | g.23898826A>T | CA402046493 | LAMA3 | c.875A>T (p.Glu292Val) c.5702A>T (p.Glu1901Val) c.2594A>T (p.Glu865Val) n.90A>T c.480A>T n.280A>T c.5729A>T (p.Glu1910Val) c.5720A>T (p.Glu1907Val) c.5711A>T (p.Glu1904Val) c.5597A>T (p.Glu1866Val) c.3581A>T (p.Glu1194Val) c.1271A>T (p.Glu424Val) n.5970A>T |