| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23903027A>C | CA402048689 | LAMA3 | c.1393A>C (p.Asn465His) c.6220A>C (p.Asn2074His) c.3112A>C (p.Asn1038His) c.6052A>C (p.Asn2018His) c.998A>C c.1225A>C (p.Asn409His) n.798A>C c.6247A>C (p.Asn2083His) c.6238A>C (p.Asn2080His) c.6229A>C (p.Asn2077His) c.6115A>C (p.Asn2039His) c.4099A>C (p.Asn1367His) c.1789A>C (p.Asn597His) n.6488A>C | |
| 18 | g.23903027A>G | CA402048690 | LAMA3 | c.1393A>G (p.Asn465Asp) c.6220A>G (p.Asn2074Asp) c.3112A>G (p.Asn1038Asp) c.6052A>G (p.Asn2018Asp) c.998A>G c.1225A>G (p.Asn409Asp) n.798A>G c.6247A>G (p.Asn2083Asp) c.6238A>G (p.Asn2080Asp) c.6229A>G (p.Asn2077Asp) c.6115A>G (p.Asn2039Asp) c.4099A>G (p.Asn1367Asp) c.1789A>G (p.Asn597Asp) n.6488A>G | |
| 18 | g.23903027A>T | CA402048691 | LAMA3 | c.1393A>T (p.Asn465Tyr) c.6220A>T (p.Asn2074Tyr) c.3112A>T (p.Asn1038Tyr) c.6052A>T (p.Asn2018Tyr) c.998A>T c.1225A>T (p.Asn409Tyr) n.798A>T c.6247A>T (p.Asn2083Tyr) c.6238A>T (p.Asn2080Tyr) c.6229A>T (p.Asn2077Tyr) c.6115A>T (p.Asn2039Tyr) c.4099A>T (p.Asn1367Tyr) c.1789A>T (p.Asn597Tyr) n.6488A>T | |
| 18 | g.23903028A>C | CA402048693 | LAMA3 | c.1394A>C (p.Asn465Thr) c.6221A>C (p.Asn2074Thr) c.3113A>C (p.Asn1038Thr) c.6053A>C (p.Asn2018Thr) c.999A>C c.1226A>C (p.Asn409Thr) n.799A>C c.6248A>C (p.Asn2083Thr) c.6239A>C (p.Asn2080Thr) c.6230A>C (p.Asn2077Thr) c.6116A>C (p.Asn2039Thr) c.4100A>C (p.Asn1367Thr) c.1790A>C (p.Asn597Thr) n.6489A>C | |
| 18 | g.23903028A>G | CA402048694 | LAMA3 | c.1394A>G (p.Asn465Ser) c.6221A>G (p.Asn2074Ser) c.3113A>G (p.Asn1038Ser) c.6053A>G (p.Asn2018Ser) c.999A>G c.1226A>G (p.Asn409Ser) n.799A>G c.6248A>G (p.Asn2083Ser) c.6239A>G (p.Asn2080Ser) c.6230A>G (p.Asn2077Ser) c.6116A>G (p.Asn2039Ser) c.4100A>G (p.Asn1367Ser) c.1790A>G (p.Asn597Ser) n.6489A>G | |
| 18 | g.23903028A>T | CA402048692 | LAMA3 | c.1394A>T (p.Asn465Ile) c.6221A>T (p.Asn2074Ile) c.3113A>T (p.Asn1038Ile) c.6053A>T (p.Asn2018Ile) c.999A>T c.1226A>T (p.Asn409Ile) n.799A>T c.6248A>T (p.Asn2083Ile) c.6239A>T (p.Asn2080Ile) c.6230A>T (p.Asn2077Ile) c.6116A>T (p.Asn2039Ile) c.4100A>T (p.Asn1367Ile) c.1790A>T (p.Asn597Ile) n.6489A>T | |
| 18 | g.23903029T>A | CA402048695 | LAMA3 | c.1395T>A (p.Asn465Lys) c.6222T>A (p.Asn2074Lys) c.3114T>A (p.Asn1038Lys) c.6054T>A (p.Asn2018Lys) c.1000T>A c.1227T>A (p.Asn409Lys) n.800T>A c.6249T>A (p.Asn2083Lys) c.6240T>A (p.Asn2080Lys) c.6231T>A (p.Asn2077Lys) c.6117T>A (p.Asn2039Lys) c.4101T>A (p.Asn1367Lys) c.1791T>A (p.Asn597Lys) n.6490T>A | |
| 18 | g.23903029T>C | CA503334675 | LAMA3 | c.1395T>C (p.Asn465=) c.6222T>C (p.Asn2074=) c.3114T>C (p.Asn1038=) c.6054T>C (p.Asn2018=) c.1000T>C c.1227T>C (p.Asn409=) n.800T>C c.6249T>C (p.Asn2083=) c.6240T>C (p.Asn2080=) c.6231T>C (p.Asn2077=) c.6117T>C (p.Asn2039=) c.4101T>C (p.Asn1367=) c.1791T>C (p.Asn597=) n.6490T>C | gnomAD v4 |
| 18 | g.23903029T>G | CA402048696 | LAMA3 | c.1395T>G (p.Asn465Lys) c.6222T>G (p.Asn2074Lys) c.3114T>G (p.Asn1038Lys) c.6054T>G (p.Asn2018Lys) c.1000T>G c.1227T>G (p.Asn409Lys) n.800T>G c.6249T>G (p.Asn2083Lys) c.6240T>G (p.Asn2080Lys) c.6231T>G (p.Asn2077Lys) c.6117T>G (p.Asn2039Lys) c.4101T>G (p.Asn1367Lys) c.1791T>G (p.Asn597Lys) n.6490T>G | |
| 18 | g.23903030T>A | CA402048697 | LAMA3 | c.1396T>A (p.Ser466Thr) c.6223T>A (p.Ser2075Thr) c.3115T>A (p.Ser1039Thr) c.6055T>A (p.Ser2019Thr) c.1001T>A c.1228T>A (p.Ser410Thr) n.801T>A c.6250T>A (p.Ser2084Thr) c.6241T>A (p.Ser2081Thr) c.6232T>A (p.Ser2078Thr) c.6118T>A (p.Ser2040Thr) c.4102T>A (p.Ser1368Thr) c.1792T>A (p.Ser598Thr) n.6491T>A | |
| 18 | g.23903030T>C | CA402048698 | LAMA3 | c.1396T>C (p.Ser466Pro) c.6223T>C (p.Ser2075Pro) c.3115T>C (p.Ser1039Pro) c.6055T>C (p.Ser2019Pro) c.1001T>C c.1228T>C (p.Ser410Pro) n.801T>C c.6250T>C (p.Ser2084Pro) c.6241T>C (p.Ser2081Pro) c.6232T>C (p.Ser2078Pro) c.6118T>C (p.Ser2040Pro) c.4102T>C (p.Ser1368Pro) c.1792T>C (p.Ser598Pro) n.6491T>C | |
| 18 | g.23903030T>G | CA402048699 | LAMA3 | c.1396T>G (p.Ser466Ala) c.6223T>G (p.Ser2075Ala) c.3115T>G (p.Ser1039Ala) c.6055T>G (p.Ser2019Ala) c.1001T>G c.1228T>G (p.Ser410Ala) n.801T>G c.6250T>G (p.Ser2084Ala) c.6241T>G (p.Ser2081Ala) c.6232T>G (p.Ser2078Ala) c.6118T>G (p.Ser2040Ala) c.4102T>G (p.Ser1368Ala) c.1792T>G (p.Ser598Ala) n.6491T>G | |
| 18 | g.23903031C>A | CA402048702 | LAMA3 | c.1397C>A (p.Ser466Tyr) c.6224C>A (p.Ser2075Tyr) c.3116C>A (p.Ser1039Tyr) c.6056C>A (p.Ser2019Tyr) c.1002C>A c.1229C>A (p.Ser410Tyr) n.802C>A c.6251C>A (p.Ser2084Tyr) c.6242C>A (p.Ser2081Tyr) c.6233C>A (p.Ser2078Tyr) c.6119C>A (p.Ser2040Tyr) c.4103C>A (p.Ser1368Tyr) c.1793C>A (p.Ser598Tyr) n.6492C>A | gnomAD v4 |
| 18 | g.23903031C= | CA2290323910 | LAMA3 | c.1397C= (p.Ser466=) c.6224C= (p.Ser2075=) c.3116C= (p.Ser1039=) c.6056C= (p.Ser2019=) c.1002C= c.1229C= (p.Ser410=) n.802C= c.6251C= (p.Ser2084=) c.6242C= (p.Ser2081=) c.6233C= (p.Ser2078=) c.6119C= (p.Ser2040=) c.4103C= (p.Ser1368=) c.1793C= (p.Ser598=) n.6492C= | |
| 18 | g.23903031C>G | CA402048700 | LAMA3 | c.1397C>G (p.Ser466Cys) c.6224C>G (p.Ser2075Cys) c.3116C>G (p.Ser1039Cys) c.6056C>G (p.Ser2019Cys) c.1002C>G c.1229C>G (p.Ser410Cys) n.802C>G c.6251C>G (p.Ser2084Cys) c.6242C>G (p.Ser2081Cys) c.6233C>G (p.Ser2078Cys) c.6119C>G (p.Ser2040Cys) c.4103C>G (p.Ser1368Cys) c.1793C>G (p.Ser598Cys) n.6492C>G | gnomAD v4 |
| 18 | g.23903031C>T | CA402048701 | LAMA3 | c.1397C>T (p.Ser466Phe) c.6224C>T (p.Ser2075Phe) c.3116C>T (p.Ser1039Phe) c.6056C>T (p.Ser2019Phe) c.1002C>T c.1229C>T (p.Ser410Phe) n.802C>T c.6251C>T (p.Ser2084Phe) c.6242C>T (p.Ser2081Phe) c.6233C>T (p.Ser2078Phe) c.6119C>T (p.Ser2040Phe) c.4103C>T (p.Ser1368Phe) c.1793C>T (p.Ser598Phe) n.6492C>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23903032C>A | CA503334685 | LAMA3 | c.1398C>A (p.Ser466=) c.6225C>A (p.Ser2075=) c.3117C>A (p.Ser1039=) c.6057C>A (p.Ser2019=) c.1003C>A c.1230C>A (p.Ser410=) n.803C>A c.6252C>A (p.Ser2084=) c.6243C>A (p.Ser2081=) c.6234C>A (p.Ser2078=) c.6120C>A (p.Ser2040=) c.4104C>A (p.Ser1368=) c.1794C>A (p.Ser598=) n.6493C>A | |
| 18 | g.23903032C= | CA2290323917 | LAMA3 | c.1398C= (p.Ser466=) c.6225C= (p.Ser2075=) c.3117C= (p.Ser1039=) c.6057C= (p.Ser2019=) c.1003C= c.1230C= (p.Ser410=) n.803C= c.6252C= (p.Ser2084=) c.6243C= (p.Ser2081=) c.6234C= (p.Ser2078=) c.6120C= (p.Ser2040=) c.4104C= (p.Ser1368=) c.1794C= (p.Ser598=) n.6493C= | |
| 18 | g.23903032C>G | CA503334687 | LAMA3 | c.1398C>G (p.Ser466=) c.6225C>G (p.Ser2075=) c.3117C>G (p.Ser1039=) c.6057C>G (p.Ser2019=) c.1003C>G c.1230C>G (p.Ser410=) n.803C>G c.6252C>G (p.Ser2084=) c.6243C>G (p.Ser2081=) c.6234C>G (p.Ser2078=) c.6120C>G (p.Ser2040=) c.4104C>G (p.Ser1368=) c.1794C>G (p.Ser598=) n.6493C>G | |
| 18 | g.23903032C>T | CA503334684 | LAMA3 | c.1398C>T (p.Ser466=) c.6225C>T (p.Ser2075=) c.3117C>T (p.Ser1039=) c.6057C>T (p.Ser2019=) c.1003C>T c.1230C>T (p.Ser410=) n.803C>T c.6252C>T (p.Ser2084=) c.6243C>T (p.Ser2081=) c.6234C>T (p.Ser2078=) c.6120C>T (p.Ser2040=) c.4104C>T (p.Ser1368=) c.1794C>T (p.Ser598=) n.6493C>T | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23903033C>A | CA402048703 | LAMA3 | c.1399C>A (p.Leu467Met) c.6226C>A (p.Leu2076Met) c.3118C>A (p.Leu1040Met) c.6058C>A (p.Leu2020Met) c.1004C>A c.1231C>A (p.Leu411Met) n.804C>A c.6253C>A (p.Leu2085Met) c.6244C>A (p.Leu2082Met) c.6235C>A (p.Leu2079Met) c.6121C>A (p.Leu2041Met) c.4105C>A (p.Leu1369Met) c.1795C>A (p.Leu599Met) n.6494C>A | gnomAD v4 |
| 18 | g.23903033C= | CA2290323919 | LAMA3 | c.1399C= (p.Leu467=) c.6226C= (p.Leu2076=) c.3118C= (p.Leu1040=) c.6058C= (p.Leu2020=) c.1004C= c.1231C= (p.Leu411=) n.804C= c.6253C= (p.Leu2085=) c.6244C= (p.Leu2082=) c.6235C= (p.Leu2079=) c.6121C= (p.Leu2041=) c.4105C= (p.Leu1369=) c.1795C= (p.Leu599=) n.6494C= | |
| 18 | g.23903033C>G | CA402048704 | LAMA3 | c.1399C>G (p.Leu467Val) c.6226C>G (p.Leu2076Val) c.3118C>G (p.Leu1040Val) c.6058C>G (p.Leu2020Val) c.1004C>G c.1231C>G (p.Leu411Val) n.804C>G c.6253C>G (p.Leu2085Val) c.6244C>G (p.Leu2082Val) c.6235C>G (p.Leu2079Val) c.6121C>G (p.Leu2041Val) c.4105C>G (p.Leu1369Val) c.1795C>G (p.Leu599Val) n.6494C>G | |
| 18 | g.23903033C>T | CA503334689 | LAMA3 | c.1399C>T (p.Leu467=) c.6226C>T (p.Leu2076=) c.3118C>T (p.Leu1040=) c.6058C>T (p.Leu2020=) c.1004C>T c.1231C>T (p.Leu411=) n.804C>T c.6253C>T (p.Leu2085=) c.6244C>T (p.Leu2082=) c.6235C>T (p.Leu2079=) c.6121C>T (p.Leu2041=) c.4105C>T (p.Leu1369=) c.1795C>T (p.Leu599=) n.6494C>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23903034T>A | CA402048705 | LAMA3 | c.1400T>A (p.Leu467Gln) c.6227T>A (p.Leu2076Gln) c.3119T>A (p.Leu1040Gln) c.6059T>A (p.Leu2020Gln) c.1005T>A c.1232T>A (p.Leu411Gln) n.805T>A c.6254T>A (p.Leu2085Gln) c.6245T>A (p.Leu2082Gln) c.6236T>A (p.Leu2079Gln) c.6122T>A (p.Leu2041Gln) c.4106T>A (p.Leu1369Gln) c.1796T>A (p.Leu599Gln) n.6495T>A | |
| 18 | g.23903034T>C | CA402048706 | LAMA3 | c.1400T>C (p.Leu467Pro) c.6227T>C (p.Leu2076Pro) c.3119T>C (p.Leu1040Pro) c.6059T>C (p.Leu2020Pro) c.1005T>C c.1232T>C (p.Leu411Pro) n.805T>C c.6254T>C (p.Leu2085Pro) c.6245T>C (p.Leu2082Pro) c.6236T>C (p.Leu2079Pro) c.6122T>C (p.Leu2041Pro) c.4106T>C (p.Leu1369Pro) c.1796T>C (p.Leu599Pro) n.6495T>C | |
| 18 | g.23903034T>G | CA402048707 | LAMA3 | c.1400T>G (p.Leu467Arg) c.6227T>G (p.Leu2076Arg) c.3119T>G (p.Leu1040Arg) c.6059T>G (p.Leu2020Arg) c.1005T>G c.1232T>G (p.Leu411Arg) n.805T>G c.6254T>G (p.Leu2085Arg) c.6245T>G (p.Leu2082Arg) c.6236T>G (p.Leu2079Arg) c.6122T>G (p.Leu2041Arg) c.4106T>G (p.Leu1369Arg) c.1796T>G (p.Leu599Arg) n.6495T>G | |
| 18 | g.23903035G>A | CA503334697 | LAMA3 | c.1401G>A (p.Leu467=) c.6228G>A (p.Leu2076=) c.3120G>A (p.Leu1040=) c.6060G>A (p.Leu2020=) c.1006G>A c.1233G>A (p.Leu411=) n.806G>A c.6255G>A (p.Leu2085=) c.6246G>A (p.Leu2082=) c.6237G>A (p.Leu2079=) c.6123G>A (p.Leu2041=) c.4107G>A (p.Leu1369=) c.1797G>A (p.Leu599=) n.6496G>A | gnomAD v4 |
| 18 | g.23903035G>C | CA503334700 | LAMA3 | c.1401G>C (p.Leu467=) c.6228G>C (p.Leu2076=) c.3120G>C (p.Leu1040=) c.6060G>C (p.Leu2020=) c.1006G>C c.1233G>C (p.Leu411=) n.806G>C c.6255G>C (p.Leu2085=) c.6246G>C (p.Leu2082=) c.6237G>C (p.Leu2079=) c.6123G>C (p.Leu2041=) c.4107G>C (p.Leu1369=) c.1797G>C (p.Leu599=) n.6496G>C | |
| 18 | g.23903035G>T | CA503334699 | LAMA3 | c.1401G>T (p.Leu467=) c.6228G>T (p.Leu2076=) c.3120G>T (p.Leu1040=) c.6060G>T (p.Leu2020=) c.1006G>T c.1233G>T (p.Leu411=) n.806G>T c.6255G>T (p.Leu2085=) c.6246G>T (p.Leu2082=) c.6237G>T (p.Leu2079=) c.6123G>T (p.Leu2041=) c.4107G>T (p.Leu1369=) c.1797G>T (p.Leu599=) n.6496G>T | |
| 18 | g.23903036_23903038del | CA913014993 | LAMA3 | c.1402_1404del (p.Gln468del) c.6229_6231del (p.Gln2077del) c.3121_3123del (p.Gln1041del) c.6061_6063del (p.Gln2021del) c.1007_1009del c.1234_1236del (p.Gln412del) n.807_809del c.6256_6258del (p.Gln2086del) c.6247_6249del (p.Gln2083del) c.6238_6240del (p.Gln2080del) c.6124_6126del (p.Gln2042del) c.4108_4110del (p.Gln1370del) c.1798_1800del (p.Gln600del) n.6497_6499del | |
| 18 | g.23903035_23903036insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA | CA8916313 | LAMA3 | c.1401_1402insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln468GlyfsTer26) c.6228_6229insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2077GlyfsTer26) c.3120_3121insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1041GlyfsTer26) c.6060_6061insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2021GlyfsTer26) c.1006_1007insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA c.1233_1234insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln412GlyfsTer26) n.806_807insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA c.6255_6256insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2086GlyfsTer26) c.6246_6247insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2083GlyfsTer26) c.6237_6238insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2080GlyfsTer26) c.6123_6124insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln2042GlyfsTer26) c.4107_4108insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln1370GlyfsTer26) c.1797_1798insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA (p.Gln600GlyfsTer26) n.6496_6497insGGGATGTTCAAATTTGTATTACAAAAACAAAAAAAGGATATACTAGAAATTAA | ExAC |
| 18 | g.23903036C>A | CA402048710 | LAMA3 | c.1402C>A (p.Gln468Lys) c.6229C>A (p.Gln2077Lys) c.3121C>A (p.Gln1041Lys) c.6061C>A (p.Gln2021Lys) c.1007C>A c.1234C>A (p.Gln412Lys) n.807C>A c.6256C>A (p.Gln2086Lys) c.6247C>A (p.Gln2083Lys) c.6238C>A (p.Gln2080Lys) c.6124C>A (p.Gln2042Lys) c.4108C>A (p.Gln1370Lys) c.1798C>A (p.Gln600Lys) n.6497C>A | |
| 18 | g.23903036C>G | CA402048709 | LAMA3 | c.1402C>G (p.Gln468Glu) c.6229C>G (p.Gln2077Glu) c.3121C>G (p.Gln1041Glu) c.6061C>G (p.Gln2021Glu) c.1007C>G c.1234C>G (p.Gln412Glu) n.807C>G c.6256C>G (p.Gln2086Glu) c.6247C>G (p.Gln2083Glu) c.6238C>G (p.Gln2080Glu) c.6124C>G (p.Gln2042Glu) c.4108C>G (p.Gln1370Glu) c.1798C>G (p.Gln600Glu) n.6497C>G | |
| 18 | g.23903036C>T | CA402048708 | LAMA3 | c.1402C>T (p.Gln468Ter) c.6229C>T (p.Gln2077Ter) c.3121C>T (p.Gln1041Ter) c.6061C>T (p.Gln2021Ter) c.1007C>T c.1234C>T (p.Gln412Ter) n.807C>T c.6256C>T (p.Gln2086Ter) c.6247C>T (p.Gln2083Ter) c.6238C>T (p.Gln2080Ter) c.6124C>T (p.Gln2042Ter) c.4108C>T (p.Gln1370Ter) c.1798C>T (p.Gln600Ter) n.6497C>T | |
| 18 | g.23903036_23903038delinsCAG | CA2290323921 | LAMA3 | c.1402_1404delinsCAG (p.Gln468=) c.6229_6231delinsCAG (p.Gln2077=) c.3121_3123delinsCAG (p.Gln1041=) c.6061_6063delinsCAG (p.Gln2021=) c.1007_1009delinsCAG c.1234_1236delinsCAG (p.Gln412=) n.807_809delinsCAG c.6256_6258delinsCAG (p.Gln2086=) c.6247_6249delinsCAG (p.Gln2083=) c.6238_6240delinsCAG (p.Gln2080=) c.6124_6126delinsCAG (p.Gln2042=) c.4108_4110delinsCAG (p.Gln1370=) c.1798_1800delinsCAG (p.Gln600=) n.6497_6499delinsCAG | |
| 18 | g.23903037A= | CA2290323928 | LAMA3 | c.1403A= (p.Gln468=) c.6230A= (p.Gln2077=) c.3122A= (p.Gln1041=) c.6062A= (p.Gln2021=) c.1008A= c.1235A= (p.Gln412=) n.808A= c.6257A= (p.Gln2086=) c.6248A= (p.Gln2083=) c.6239A= (p.Gln2080=) c.6125A= (p.Gln2042=) c.4109A= (p.Gln1370=) c.1799A= (p.Gln600=) n.6498A= | |
| 18 | g.23903037A>C | CA402048711 | LAMA3 | c.1403A>C (p.Gln468Pro) c.6230A>C (p.Gln2077Pro) c.3122A>C (p.Gln1041Pro) c.6062A>C (p.Gln2021Pro) c.1008A>C c.1235A>C (p.Gln412Pro) n.808A>C c.6257A>C (p.Gln2086Pro) c.6248A>C (p.Gln2083Pro) c.6239A>C (p.Gln2080Pro) c.6125A>C (p.Gln2042Pro) c.4109A>C (p.Gln1370Pro) c.1799A>C (p.Gln600Pro) n.6498A>C | |
| 18 | g.23903037A>G | CA402048713 | LAMA3 | c.1403A>G (p.Gln468Arg) c.6230A>G (p.Gln2077Arg) c.3122A>G (p.Gln1041Arg) c.6062A>G (p.Gln2021Arg) c.1008A>G c.1235A>G (p.Gln412Arg) n.808A>G c.6257A>G (p.Gln2086Arg) c.6248A>G (p.Gln2083Arg) c.6239A>G (p.Gln2080Arg) c.6125A>G (p.Gln2042Arg) c.4109A>G (p.Gln1370Arg) c.1799A>G (p.Gln600Arg) n.6498A>G | dbSNP |
| 18 | g.23903037A>T | CA402048712 | LAMA3 | c.1403A>T (p.Gln468Leu) c.6230A>T (p.Gln2077Leu) c.3122A>T (p.Gln1041Leu) c.6062A>T (p.Gln2021Leu) c.1008A>T c.1235A>T (p.Gln412Leu) n.808A>T c.6257A>T (p.Gln2086Leu) c.6248A>T (p.Gln2083Leu) c.6239A>T (p.Gln2080Leu) c.6125A>T (p.Gln2042Leu) c.4109A>T (p.Gln1370Leu) c.1799A>T (p.Gln600Leu) n.6498A>T | |
| 18 | g.23903039_23903040del | CA628684861 | LAMA3 | c.1405_1406del (p.Ser469Ter) c.6232_6233del (p.Ser2078Ter) c.3124_3125del (p.Ser1042Ter) c.6064_6065del (p.Ser2022Ter) c.1010_1011del c.1237_1238del (p.Ser413Ter) n.810_811del c.6259_6260del (p.Ser2087Ter) c.6250_6251del (p.Ser2084Ter) c.6241_6242del (p.Ser2081Ter) c.6127_6128del (p.Ser2043Ter) c.4111_4112del (p.Ser1371Ter) c.1801_1802del (p.Ser601Ter) n.6500_6501del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23903038G>A | CA503334708 | LAMA3 | c.1404G>A (p.Gln468=) c.6231G>A (p.Gln2077=) c.3123G>A (p.Gln1041=) c.6063G>A (p.Gln2021=) c.1009G>A c.1236G>A (p.Gln412=) n.809G>A c.6258G>A (p.Gln2086=) c.6249G>A (p.Gln2083=) c.6240G>A (p.Gln2080=) c.6126G>A (p.Gln2042=) c.4110G>A (p.Gln1370=) c.1800G>A (p.Gln600=) n.6499G>A | |
| 18 | g.23903038G>C | CA8916314 | LAMA3 | c.1404G>C (p.Gln468His) c.6231G>C (p.Gln2077His) c.3123G>C (p.Gln1041His) c.6063G>C (p.Gln2021His) c.1009G>C c.1236G>C (p.Gln412His) n.809G>C c.6258G>C (p.Gln2086His) c.6249G>C (p.Gln2083His) c.6240G>C (p.Gln2080His) c.6126G>C (p.Gln2042His) c.4110G>C (p.Gln1370His) c.1800G>C (p.Gln600His) n.6499G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23903038G= | CA2290323932 | LAMA3 | c.1404G= (p.Gln468=) c.6231G= (p.Gln2077=) c.3123G= (p.Gln1041=) c.6063G= (p.Gln2021=) c.1009G= c.1236G= (p.Gln412=) n.809G= c.6258G= (p.Gln2086=) c.6249G= (p.Gln2083=) c.6240G= (p.Gln2080=) c.6126G= (p.Gln2042=) c.4110G= (p.Gln1370=) c.1800G= (p.Gln600=) n.6499G= | |
| 18 | g.23903038G>T | CA402048714 | LAMA3 | c.1404G>T (p.Gln468His) c.6231G>T (p.Gln2077His) c.3123G>T (p.Gln1041His) c.6063G>T (p.Gln2021His) c.1009G>T c.1236G>T (p.Gln412His) n.809G>T c.6258G>T (p.Gln2086His) c.6249G>T (p.Gln2083His) c.6240G>T (p.Gln2080His) c.6126G>T (p.Gln2042His) c.4110G>T (p.Gln1370His) c.1800G>T (p.Gln600His) n.6499G>T | |
| 18 | g.23903039A= | CA2290323934 | LAMA3 | c.1405A= (p.Ser469=) c.6232A= (p.Ser2078=) c.3124A= (p.Ser1042=) c.6064A= (p.Ser2022=) c.1010A= c.1237A= (p.Ser413=) n.810A= c.6259A= (p.Ser2087=) c.6250A= (p.Ser2084=) c.6241A= (p.Ser2081=) c.6127A= (p.Ser2043=) c.4111A= (p.Ser1371=) c.1801A= (p.Ser601=) n.6500A= | |
| 18 | g.23903039A>C | CA402048715 | LAMA3 | c.1405A>C (p.Ser469Arg) c.6232A>C (p.Ser2078Arg) c.3124A>C (p.Ser1042Arg) c.6064A>C (p.Ser2022Arg) c.1010A>C c.1237A>C (p.Ser413Arg) n.810A>C c.6259A>C (p.Ser2087Arg) c.6250A>C (p.Ser2084Arg) c.6241A>C (p.Ser2081Arg) c.6127A>C (p.Ser2043Arg) c.4111A>C (p.Ser1371Arg) c.1801A>C (p.Ser601Arg) n.6500A>C | |
| 18 | g.23903039A>G | CA402048716 | LAMA3 | c.1405A>G (p.Ser469Gly) c.6232A>G (p.Ser2078Gly) c.3124A>G (p.Ser1042Gly) c.6064A>G (p.Ser2022Gly) c.1010A>G c.1237A>G (p.Ser413Gly) n.810A>G c.6259A>G (p.Ser2087Gly) c.6250A>G (p.Ser2084Gly) c.6241A>G (p.Ser2081Gly) c.6127A>G (p.Ser2043Gly) c.4111A>G (p.Ser1371Gly) c.1801A>G (p.Ser601Gly) n.6500A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23903039A>T | CA402048717 | LAMA3 | c.1405A>T (p.Ser469Cys) c.6232A>T (p.Ser2078Cys) c.3124A>T (p.Ser1042Cys) c.6064A>T (p.Ser2022Cys) c.1010A>T c.1237A>T (p.Ser413Cys) n.810A>T c.6259A>T (p.Ser2087Cys) c.6250A>T (p.Ser2084Cys) c.6241A>T (p.Ser2081Cys) c.6127A>T (p.Ser2043Cys) c.4111A>T (p.Ser1371Cys) c.1801A>T (p.Ser601Cys) n.6500A>T | |
| 18 | g.23903040G>A | CA402048719 | LAMA3 | c.1406G>A (p.Ser469Asn) c.6233G>A (p.Ser2078Asn) c.3125G>A (p.Ser1042Asn) c.6065G>A (p.Ser2022Asn) c.1011G>A c.1238G>A (p.Ser413Asn) n.811G>A c.6260G>A (p.Ser2087Asn) c.6251G>A (p.Ser2084Asn) c.6242G>A (p.Ser2081Asn) c.6128G>A (p.Ser2043Asn) c.4112G>A (p.Ser1371Asn) c.1802G>A (p.Ser601Asn) n.6501G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |