Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23903045T>A | CA402048743 | LAMA3 | c.1411T>A (p.Phe471Ile) c.6238T>A (p.Phe2080Ile) c.3130T>A (p.Phe1044Ile) c.6070T>A (p.Phe2024Ile) c.1016T>A c.1243T>A (p.Phe415Ile) n.816T>A c.6265T>A (p.Phe2089Ile) c.6256T>A (p.Phe2086Ile) c.6247T>A (p.Phe2083Ile) c.6133T>A (p.Phe2045Ile) c.4117T>A (p.Phe1373Ile) c.1807T>A (p.Phe603Ile) n.6506T>A | |
18 | g.23903045T>C | CA402048745 | LAMA3 | c.1411T>C (p.Phe471Leu) c.6238T>C (p.Phe2080Leu) c.3130T>C (p.Phe1044Leu) c.6070T>C (p.Phe2024Leu) c.1016T>C c.1243T>C (p.Phe415Leu) n.816T>C c.6265T>C (p.Phe2089Leu) c.6256T>C (p.Phe2086Leu) c.6247T>C (p.Phe2083Leu) c.6133T>C (p.Phe2045Leu) c.4117T>C (p.Phe1373Leu) c.1807T>C (p.Phe603Leu) n.6506T>C | |
18 | g.23903045T>G | CA402048746 | LAMA3 | c.1411T>G (p.Phe471Val) c.6238T>G (p.Phe2080Val) c.3130T>G (p.Phe1044Val) c.6070T>G (p.Phe2024Val) c.1016T>G c.1243T>G (p.Phe415Val) n.816T>G c.6265T>G (p.Phe2089Val) c.6256T>G (p.Phe2086Val) c.6247T>G (p.Phe2083Val) c.6133T>G (p.Phe2045Val) c.4117T>G (p.Phe1373Val) c.1807T>G (p.Phe603Val) n.6506T>G | |
18 | g.23903046T>A | CA402048748 | LAMA3 | c.1412T>A (p.Phe471Tyr) c.6239T>A (p.Phe2080Tyr) c.3131T>A (p.Phe1044Tyr) c.6071T>A (p.Phe2024Tyr) c.1017T>A c.1244T>A (p.Phe415Tyr) n.817T>A c.6266T>A (p.Phe2089Tyr) c.6257T>A (p.Phe2086Tyr) c.6248T>A (p.Phe2083Tyr) c.6134T>A (p.Phe2045Tyr) c.4118T>A (p.Phe1373Tyr) c.1808T>A (p.Phe603Tyr) n.6507T>A | |
18 | g.23903046T>C | CA8916315 | LAMA3 | c.1412T>C (p.Phe471Ser) c.6239T>C (p.Phe2080Ser) c.3131T>C (p.Phe1044Ser) c.6071T>C (p.Phe2024Ser) c.1017T>C c.1244T>C (p.Phe415Ser) n.817T>C c.6266T>C (p.Phe2089Ser) c.6257T>C (p.Phe2086Ser) c.6248T>C (p.Phe2083Ser) c.6134T>C (p.Phe2045Ser) c.4118T>C (p.Phe1373Ser) c.1808T>C (p.Phe603Ser) n.6507T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23903046T>G | CA402048751 | LAMA3 | c.1412T>G (p.Phe471Cys) c.6239T>G (p.Phe2080Cys) c.3131T>G (p.Phe1044Cys) c.6071T>G (p.Phe2024Cys) c.1017T>G c.1244T>G (p.Phe415Cys) n.817T>G c.6266T>G (p.Phe2089Cys) c.6257T>G (p.Phe2086Cys) c.6248T>G (p.Phe2083Cys) c.6134T>G (p.Phe2045Cys) c.4118T>G (p.Phe1373Cys) c.1808T>G (p.Phe603Cys) n.6507T>G | |
18 | g.23903046T= | CA2290323942 | LAMA3 | c.1412T= (p.Phe471=) c.6239T= (p.Phe2080=) c.3131T= (p.Phe1044=) c.6071T= (p.Phe2024=) c.1017T= c.1244T= (p.Phe415=) n.817T= c.6266T= (p.Phe2089=) c.6257T= (p.Phe2086=) c.6248T= (p.Phe2083=) c.6134T= (p.Phe2045=) c.4118T= (p.Phe1373=) c.1808T= (p.Phe603=) n.6507T= | |
18 | g.23903047C>A | CA402048753 | LAMA3 | c.1413C>A (p.Phe471Leu) c.6240C>A (p.Phe2080Leu) c.3132C>A (p.Phe1044Leu) c.6072C>A (p.Phe2024Leu) c.1018C>A c.1245C>A (p.Phe415Leu) n.818C>A c.6267C>A (p.Phe2089Leu) c.6258C>A (p.Phe2086Leu) c.6249C>A (p.Phe2083Leu) c.6135C>A (p.Phe2045Leu) c.4119C>A (p.Phe1373Leu) c.1809C>A (p.Phe603Leu) n.6508C>A | |
18 | g.23903047C>G | CA402048754 | LAMA3 | c.1413C>G (p.Phe471Leu) c.6240C>G (p.Phe2080Leu) c.3132C>G (p.Phe1044Leu) c.6072C>G (p.Phe2024Leu) c.1018C>G c.1245C>G (p.Phe415Leu) n.818C>G c.6267C>G (p.Phe2089Leu) c.6258C>G (p.Phe2086Leu) c.6249C>G (p.Phe2083Leu) c.6135C>G (p.Phe2045Leu) c.4119C>G (p.Phe1373Leu) c.1809C>G (p.Phe603Leu) n.6508C>G | |
18 | g.23903047C>T | CA503334736 | LAMA3 | c.1413C>T (p.Phe471=) c.6240C>T (p.Phe2080=) c.3132C>T (p.Phe1044=) c.6072C>T (p.Phe2024=) c.1018C>T c.1245C>T (p.Phe415=) n.818C>T c.6267C>T (p.Phe2089=) c.6258C>T (p.Phe2086=) c.6249C>T (p.Phe2083=) c.6135C>T (p.Phe2045=) c.4119C>T (p.Phe1373=) c.1809C>T (p.Phe603=) n.6508C>T | |
18 | g.23903048A>C | CA402048761 | LAMA3 | c.1414A>C (p.Thr472Pro) c.6241A>C (p.Thr2081Pro) c.3133A>C (p.Thr1045Pro) c.6073A>C (p.Thr2025Pro) c.1019A>C c.1246A>C (p.Thr416Pro) n.819A>C c.6268A>C (p.Thr2090Pro) c.6259A>C (p.Thr2087Pro) c.6250A>C (p.Thr2084Pro) c.6136A>C (p.Thr2046Pro) c.4120A>C (p.Thr1374Pro) c.1810A>C (p.Thr604Pro) n.6509A>C | |
18 | g.23903048A>G | CA402048759 | LAMA3 | c.1414A>G (p.Thr472Ala) c.6241A>G (p.Thr2081Ala) c.3133A>G (p.Thr1045Ala) c.6073A>G (p.Thr2025Ala) c.1019A>G c.1246A>G (p.Thr416Ala) n.819A>G c.6268A>G (p.Thr2090Ala) c.6259A>G (p.Thr2087Ala) c.6250A>G (p.Thr2084Ala) c.6136A>G (p.Thr2046Ala) c.4120A>G (p.Thr1374Ala) c.1810A>G (p.Thr604Ala) n.6509A>G | |
18 | g.23903048A>T | CA402048757 | LAMA3 | c.1414A>T (p.Thr472Ser) c.6241A>T (p.Thr2081Ser) c.3133A>T (p.Thr1045Ser) c.6073A>T (p.Thr2025Ser) c.1019A>T c.1246A>T (p.Thr416Ser) n.819A>T c.6268A>T (p.Thr2090Ser) c.6259A>T (p.Thr2087Ser) c.6250A>T (p.Thr2084Ser) c.6136A>T (p.Thr2046Ser) c.4120A>T (p.Thr1374Ser) c.1810A>T (p.Thr604Ser) n.6509A>T | |
18 | g.23903049C>A | CA402048767 | LAMA3 | c.1415C>A (p.Thr472Asn) c.6242C>A (p.Thr2081Asn) c.3134C>A (p.Thr1045Asn) c.6074C>A (p.Thr2025Asn) c.1020C>A c.1247C>A (p.Thr416Asn) n.820C>A c.6269C>A (p.Thr2090Asn) c.6260C>A (p.Thr2087Asn) c.6251C>A (p.Thr2084Asn) c.6137C>A (p.Thr2046Asn) c.4121C>A (p.Thr1374Asn) c.1811C>A (p.Thr604Asn) n.6510C>A | gnomAD v4 |
18 | g.23903049C>G | CA402048763 | LAMA3 | c.1415C>G (p.Thr472Ser) c.6242C>G (p.Thr2081Ser) c.3134C>G (p.Thr1045Ser) c.6074C>G (p.Thr2025Ser) c.1020C>G c.1247C>G (p.Thr416Ser) n.820C>G c.6269C>G (p.Thr2090Ser) c.6260C>G (p.Thr2087Ser) c.6251C>G (p.Thr2084Ser) c.6137C>G (p.Thr2046Ser) c.4121C>G (p.Thr1374Ser) c.1811C>G (p.Thr604Ser) n.6510C>G | |
18 | g.23903049C>T | CA402048765 | LAMA3 | c.1415C>T (p.Thr472Ile) c.6242C>T (p.Thr2081Ile) c.3134C>T (p.Thr1045Ile) c.6074C>T (p.Thr2025Ile) c.1020C>T c.1247C>T (p.Thr416Ile) n.820C>T c.6269C>T (p.Thr2090Ile) c.6260C>T (p.Thr2087Ile) c.6251C>T (p.Thr2084Ile) c.6137C>T (p.Thr2046Ile) c.4121C>T (p.Thr1374Ile) c.1811C>T (p.Thr604Ile) n.6510C>T | gnomAD v4 |
18 | g.23903050C>A | CA503334742 | LAMA3 | c.1416C>A (p.Thr472=) c.6243C>A (p.Thr2081=) c.3135C>A (p.Thr1045=) c.6075C>A (p.Thr2025=) c.1021C>A c.1248C>A (p.Thr416=) n.821C>A c.6270C>A (p.Thr2090=) c.6261C>A (p.Thr2087=) c.6252C>A (p.Thr2084=) c.6138C>A (p.Thr2046=) c.4122C>A (p.Thr1374=) c.1812C>A (p.Thr604=) n.6511C>A | gnomAD v4 |
18 | g.23903050C>G | CA503334743 | LAMA3 | c.1416C>G (p.Thr472=) c.6243C>G (p.Thr2081=) c.3135C>G (p.Thr1045=) c.6075C>G (p.Thr2025=) c.1021C>G c.1248C>G (p.Thr416=) n.821C>G c.6270C>G (p.Thr2090=) c.6261C>G (p.Thr2087=) c.6252C>G (p.Thr2084=) c.6138C>G (p.Thr2046=) c.4122C>G (p.Thr1374=) c.1812C>G (p.Thr604=) n.6511C>G | |
18 | g.23903050C>T | CA503334745 | LAMA3 | c.1416C>T (p.Thr472=) c.6243C>T (p.Thr2081=) c.3135C>T (p.Thr1045=) c.6075C>T (p.Thr2025=) c.1021C>T c.1248C>T (p.Thr416=) n.821C>T c.6270C>T (p.Thr2090=) c.6261C>T (p.Thr2087=) c.6252C>T (p.Thr2084=) c.6138C>T (p.Thr2046=) c.4122C>T (p.Thr1374=) c.1812C>T (p.Thr604=) n.6511C>T | |
18 | g.23903051A>C | CA402048769 | LAMA3 | c.1417A>C (p.Lys473Gln) c.6244A>C (p.Lys2082Gln) c.3136A>C (p.Lys1046Gln) c.6076A>C (p.Lys2026Gln) c.1022A>C c.1249A>C (p.Lys417Gln) n.822A>C c.6271A>C (p.Lys2091Gln) c.6262A>C (p.Lys2088Gln) c.6253A>C (p.Lys2085Gln) c.6139A>C (p.Lys2047Gln) c.4123A>C (p.Lys1375Gln) c.1813A>C (p.Lys605Gln) n.6512A>C | |
18 | g.23903051A>G | CA402048771 | LAMA3 | c.1417A>G (p.Lys473Glu) c.6244A>G (p.Lys2082Glu) c.3136A>G (p.Lys1046Glu) c.6076A>G (p.Lys2026Glu) c.1022A>G c.1249A>G (p.Lys417Glu) n.822A>G c.6271A>G (p.Lys2091Glu) c.6262A>G (p.Lys2088Glu) c.6253A>G (p.Lys2085Glu) c.6139A>G (p.Lys2047Glu) c.4123A>G (p.Lys1375Glu) c.1813A>G (p.Lys605Glu) n.6512A>G | |
18 | g.23903051A>T | CA402048772 | LAMA3 | c.1417A>T (p.Lys473Ter) c.6244A>T (p.Lys2082Ter) c.3136A>T (p.Lys1046Ter) c.6076A>T (p.Lys2026Ter) c.1022A>T c.1249A>T (p.Lys417Ter) n.822A>T c.6271A>T (p.Lys2091Ter) c.6262A>T (p.Lys2088Ter) c.6253A>T (p.Lys2085Ter) c.6139A>T (p.Lys2047Ter) c.4123A>T (p.Lys1375Ter) c.1813A>T (p.Lys605Ter) n.6512A>T | ClinVar |
18 | g.23903052A>C | CA402048774 | LAMA3 | c.1418A>C (p.Lys473Thr) c.6245A>C (p.Lys2082Thr) c.3137A>C (p.Lys1046Thr) c.6077A>C (p.Lys2026Thr) c.1023A>C c.1250A>C (p.Lys417Thr) n.823A>C c.6272A>C (p.Lys2091Thr) c.6263A>C (p.Lys2088Thr) c.6254A>C (p.Lys2085Thr) c.6140A>C (p.Lys2047Thr) c.4124A>C (p.Lys1375Thr) c.1814A>C (p.Lys605Thr) n.6513A>C | |
18 | g.23903052A>G | CA402048776 | LAMA3 | c.1418A>G (p.Lys473Arg) c.6245A>G (p.Lys2082Arg) c.3137A>G (p.Lys1046Arg) c.6077A>G (p.Lys2026Arg) c.1023A>G c.1250A>G (p.Lys417Arg) n.823A>G c.6272A>G (p.Lys2091Arg) c.6263A>G (p.Lys2088Arg) c.6254A>G (p.Lys2085Arg) c.6140A>G (p.Lys2047Arg) c.4124A>G (p.Lys1375Arg) c.1814A>G (p.Lys605Arg) n.6513A>G | gnomAD v4 |
18 | g.23903052A>T | CA402048778 | LAMA3 | c.1418A>T (p.Lys473Met) c.6245A>T (p.Lys2082Met) c.3137A>T (p.Lys1046Met) c.6077A>T (p.Lys2026Met) c.1023A>T c.1250A>T (p.Lys417Met) n.823A>T c.6272A>T (p.Lys2091Met) c.6263A>T (p.Lys2088Met) c.6254A>T (p.Lys2085Met) c.6140A>T (p.Lys2047Met) c.4124A>T (p.Lys1375Met) c.1814A>T (p.Lys605Met) n.6513A>T | |
18 | g.23903053G>A | CA503334751 | LAMA3 | c.1419G>A (p.Lys473=) c.6246G>A (p.Lys2082=) c.3138G>A (p.Lys1046=) c.6078G>A (p.Lys2026=) c.1024G>A c.1251G>A (p.Lys417=) n.824G>A c.6273G>A (p.Lys2091=) c.6264G>A (p.Lys2088=) c.6255G>A (p.Lys2085=) c.6141G>A (p.Lys2047=) c.4125G>A (p.Lys1375=) c.1815G>A (p.Lys605=) n.6514G>A | gnomAD v4 |
18 | g.23903053G>C | CA402048780 | LAMA3 | c.1419G>C (p.Lys473Asn) c.6246G>C (p.Lys2082Asn) c.3138G>C (p.Lys1046Asn) c.6078G>C (p.Lys2026Asn) c.1024G>C c.1251G>C (p.Lys417Asn) n.824G>C c.6273G>C (p.Lys2091Asn) c.6264G>C (p.Lys2088Asn) c.6255G>C (p.Lys2085Asn) c.6141G>C (p.Lys2047Asn) c.4125G>C (p.Lys1375Asn) c.1815G>C (p.Lys605Asn) n.6514G>C | |
18 | g.23903053G>T | CA402048781 | LAMA3 | c.1419G>T (p.Lys473Asn) c.6246G>T (p.Lys2082Asn) c.3138G>T (p.Lys1046Asn) c.6078G>T (p.Lys2026Asn) c.1024G>T c.1251G>T (p.Lys417Asn) n.824G>T c.6273G>T (p.Lys2091Asn) c.6264G>T (p.Lys2088Asn) c.6255G>T (p.Lys2085Asn) c.6141G>T (p.Lys2047Asn) c.4125G>T (p.Lys1375Asn) c.1815G>T (p.Lys605Asn) n.6514G>T | |
18 | g.23903054T>A | CA402048784 | LAMA3 | c.1420T>A (p.Tyr474Asn) c.6247T>A (p.Tyr2083Asn) c.3139T>A (p.Tyr1047Asn) c.6079T>A (p.Tyr2027Asn) c.1025T>A c.1252T>A (p.Tyr418Asn) n.825T>A c.6274T>A (p.Tyr2092Asn) c.6265T>A (p.Tyr2089Asn) c.6256T>A (p.Tyr2086Asn) c.6142T>A (p.Tyr2048Asn) c.4126T>A (p.Tyr1376Asn) c.1816T>A (p.Tyr606Asn) n.6515T>A | |
18 | g.23903054T>C | CA402048785 | LAMA3 | c.1420T>C (p.Tyr474His) c.6247T>C (p.Tyr2083His) c.3139T>C (p.Tyr1047His) c.6079T>C (p.Tyr2027His) c.1025T>C c.1252T>C (p.Tyr418His) n.825T>C c.6274T>C (p.Tyr2092His) c.6265T>C (p.Tyr2089His) c.6256T>C (p.Tyr2086His) c.6142T>C (p.Tyr2048His) c.4126T>C (p.Tyr1376His) c.1816T>C (p.Tyr606His) n.6515T>C | |
18 | g.23903054T>G | CA402048787 | LAMA3 | c.1420T>G (p.Tyr474Asp) c.6247T>G (p.Tyr2083Asp) c.3139T>G (p.Tyr1047Asp) c.6079T>G (p.Tyr2027Asp) c.1025T>G c.1252T>G (p.Tyr418Asp) n.825T>G c.6274T>G (p.Tyr2092Asp) c.6265T>G (p.Tyr2089Asp) c.6256T>G (p.Tyr2086Asp) c.6142T>G (p.Tyr2048Asp) c.4126T>G (p.Tyr1376Asp) c.1816T>G (p.Tyr606Asp) n.6515T>G | |
18 | g.23903055A= | CA2290323945 | LAMA3 | c.1421A= (p.Tyr474=) c.6248A= (p.Tyr2083=) c.3140A= (p.Tyr1047=) c.6080A= (p.Tyr2027=) c.1026A= c.1253A= (p.Tyr418=) n.826A= c.6275A= (p.Tyr2092=) c.6266A= (p.Tyr2089=) c.6257A= (p.Tyr2086=) c.6143A= (p.Tyr2048=) c.4127A= (p.Tyr1376=) c.1817A= (p.Tyr606=) n.6516A= | |
18 | g.23903055A>C | CA402048792 | LAMA3 | c.1421A>C (p.Tyr474Ser) c.6248A>C (p.Tyr2083Ser) c.3140A>C (p.Tyr1047Ser) c.6080A>C (p.Tyr2027Ser) c.1026A>C c.1253A>C (p.Tyr418Ser) n.826A>C c.6275A>C (p.Tyr2092Ser) c.6266A>C (p.Tyr2089Ser) c.6257A>C (p.Tyr2086Ser) c.6143A>C (p.Tyr2048Ser) c.4127A>C (p.Tyr1376Ser) c.1817A>C (p.Tyr606Ser) n.6516A>C | |
18 | g.23903055A>G | CA402048789 | LAMA3 | c.1421A>G (p.Tyr474Cys) c.6248A>G (p.Tyr2083Cys) c.3140A>G (p.Tyr1047Cys) c.6080A>G (p.Tyr2027Cys) c.1026A>G c.1253A>G (p.Tyr418Cys) n.826A>G c.6275A>G (p.Tyr2092Cys) c.6266A>G (p.Tyr2089Cys) c.6257A>G (p.Tyr2086Cys) c.6143A>G (p.Tyr2048Cys) c.4127A>G (p.Tyr1376Cys) c.1817A>G (p.Tyr606Cys) n.6516A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23903055A>T | CA8916316 | LAMA3 | c.1421A>T (p.Tyr474Phe) c.6248A>T (p.Tyr2083Phe) c.3140A>T (p.Tyr1047Phe) c.6080A>T (p.Tyr2027Phe) c.1026A>T c.1253A>T (p.Tyr418Phe) n.826A>T c.6275A>T (p.Tyr2092Phe) c.6266A>T (p.Tyr2089Phe) c.6257A>T (p.Tyr2086Phe) c.6143A>T (p.Tyr2048Phe) c.4127A>T (p.Tyr1376Phe) c.1817A>T (p.Tyr606Phe) n.6516A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23903056T>A | CA402048794 | LAMA3 | c.1422T>A (p.Tyr474Ter) c.6249T>A (p.Tyr2083Ter) c.3141T>A (p.Tyr1047Ter) c.6081T>A (p.Tyr2027Ter) c.1027T>A c.1254T>A (p.Tyr418Ter) n.827T>A c.6276T>A (p.Tyr2092Ter) c.6267T>A (p.Tyr2089Ter) c.6258T>A (p.Tyr2086Ter) c.6144T>A (p.Tyr2048Ter) c.4128T>A (p.Tyr1376Ter) c.1818T>A (p.Tyr606Ter) n.6517T>A | |
18 | g.23903056T>C | CA503334759 | LAMA3 | c.1422T>C (p.Tyr474=) c.6249T>C (p.Tyr2083=) c.3141T>C (p.Tyr1047=) c.6081T>C (p.Tyr2027=) c.1027T>C c.1254T>C (p.Tyr418=) n.827T>C c.6276T>C (p.Tyr2092=) c.6267T>C (p.Tyr2089=) c.6258T>C (p.Tyr2086=) c.6144T>C (p.Tyr2048=) c.4128T>C (p.Tyr1376=) c.1818T>C (p.Tyr606=) n.6517T>C | |
18 | g.23903056T>G | CA402048795 | LAMA3 | c.1422T>G (p.Tyr474Ter) c.6249T>G (p.Tyr2083Ter) c.3141T>G (p.Tyr1047Ter) c.6081T>G (p.Tyr2027Ter) c.1027T>G c.1254T>G (p.Tyr418Ter) n.827T>G c.6276T>G (p.Tyr2092Ter) c.6267T>G (p.Tyr2089Ter) c.6258T>G (p.Tyr2086Ter) c.6144T>G (p.Tyr2048Ter) c.4128T>G (p.Tyr1376Ter) c.1818T>G (p.Tyr606Ter) n.6517T>G | |
18 | g.23903057C>A | CA402048797 | LAMA3 | c.1423C>A (p.Leu475Ile) c.6250C>A (p.Leu2084Ile) c.3142C>A (p.Leu1048Ile) c.6082C>A (p.Leu2028Ile) c.1028C>A c.1255C>A (p.Leu419Ile) n.828C>A c.6277C>A (p.Leu2093Ile) c.6268C>A (p.Leu2090Ile) c.6259C>A (p.Leu2087Ile) c.6145C>A (p.Leu2049Ile) c.4129C>A (p.Leu1377Ile) c.1819C>A (p.Leu607Ile) n.6518C>A | |
18 | g.23903057C>G | CA402048798 | LAMA3 | c.1423C>G (p.Leu475Val) c.6250C>G (p.Leu2084Val) c.3142C>G (p.Leu1048Val) c.6082C>G (p.Leu2028Val) c.1028C>G c.1255C>G (p.Leu419Val) n.828C>G c.6277C>G (p.Leu2093Val) c.6268C>G (p.Leu2090Val) c.6259C>G (p.Leu2087Val) c.6145C>G (p.Leu2049Val) c.4129C>G (p.Leu1377Val) c.1819C>G (p.Leu607Val) n.6518C>G | gnomAD v4 |
18 | g.23903057C>T | CA503334762 | LAMA3 | c.1423C>T (p.Leu475=) c.6250C>T (p.Leu2084=) c.3142C>T (p.Leu1048=) c.6082C>T (p.Leu2028=) c.1028C>T c.1255C>T (p.Leu419=) n.828C>T c.6277C>T (p.Leu2093=) c.6268C>T (p.Leu2090=) c.6259C>T (p.Leu2087=) c.6145C>T (p.Leu2049=) c.4129C>T (p.Leu1377=) c.1819C>T (p.Leu607=) n.6518C>T | gnomAD v4 |
18 | g.23903058T>A | CA402048800 | LAMA3 | c.1424T>A (p.Leu475Gln) c.6251T>A (p.Leu2084Gln) c.3143T>A (p.Leu1048Gln) c.6083T>A (p.Leu2028Gln) c.1029T>A c.1256T>A (p.Leu419Gln) n.829T>A c.6278T>A (p.Leu2093Gln) c.6269T>A (p.Leu2090Gln) c.6260T>A (p.Leu2087Gln) c.6146T>A (p.Leu2049Gln) c.4130T>A (p.Leu1377Gln) c.1820T>A (p.Leu607Gln) n.6519T>A | |
18 | g.23903058T>C | CA8916317 | LAMA3 | c.1424T>C (p.Leu475Pro) c.6251T>C (p.Leu2084Pro) c.3143T>C (p.Leu1048Pro) c.6083T>C (p.Leu2028Pro) c.1029T>C c.1256T>C (p.Leu419Pro) n.829T>C c.6278T>C (p.Leu2093Pro) c.6269T>C (p.Leu2090Pro) c.6260T>C (p.Leu2087Pro) c.6146T>C (p.Leu2049Pro) c.4130T>C (p.Leu1377Pro) c.1820T>C (p.Leu607Pro) n.6519T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23903058T>G | CA402048803 | LAMA3 | c.1424T>G (p.Leu475Arg) c.6251T>G (p.Leu2084Arg) c.3143T>G (p.Leu1048Arg) c.6083T>G (p.Leu2028Arg) c.1029T>G c.1256T>G (p.Leu419Arg) n.829T>G c.6278T>G (p.Leu2093Arg) c.6269T>G (p.Leu2090Arg) c.6260T>G (p.Leu2087Arg) c.6146T>G (p.Leu2049Arg) c.4130T>G (p.Leu1377Arg) c.1820T>G (p.Leu607Arg) n.6519T>G | |
18 | g.23903058T= | CA2290323951 | LAMA3 | c.1424T= (p.Leu475=) c.6251T= (p.Leu2084=) c.3143T= (p.Leu1048=) c.6083T= (p.Leu2028=) c.1029T= c.1256T= (p.Leu419=) n.829T= c.6278T= (p.Leu2093=) c.6269T= (p.Leu2090=) c.6260T= (p.Leu2087=) c.6146T= (p.Leu2049=) c.4130T= (p.Leu1377=) c.1820T= (p.Leu607=) n.6519T= | |
18 | g.23903059A>C | CA503334766 | LAMA3 | c.1425A>C (p.Leu475=) c.6252A>C (p.Leu2084=) c.3144A>C (p.Leu1048=) c.6084A>C (p.Leu2028=) c.1030A>C c.1257A>C (p.Leu419=) n.830A>C c.6279A>C (p.Leu2093=) c.6270A>C (p.Leu2090=) c.6261A>C (p.Leu2087=) c.6147A>C (p.Leu2049=) c.4131A>C (p.Leu1377=) c.1821A>C (p.Leu607=) n.6520A>C | |
18 | g.23903059A>G | CA503334769 | LAMA3 | c.1425A>G (p.Leu475=) c.6252A>G (p.Leu2084=) c.3144A>G (p.Leu1048=) c.6084A>G (p.Leu2028=) c.1030A>G c.1257A>G (p.Leu419=) n.830A>G c.6279A>G (p.Leu2093=) c.6270A>G (p.Leu2090=) c.6261A>G (p.Leu2087=) c.6147A>G (p.Leu2049=) c.4131A>G (p.Leu1377=) c.1821A>G (p.Leu607=) n.6520A>G | |
18 | g.23903059A>T | CA503334768 | LAMA3 | c.1425A>T (p.Leu475=) c.6252A>T (p.Leu2084=) c.3144A>T (p.Leu1048=) c.6084A>T (p.Leu2028=) c.1030A>T c.1257A>T (p.Leu419=) n.830A>T c.6279A>T (p.Leu2093=) c.6270A>T (p.Leu2090=) c.6261A>T (p.Leu2087=) c.6147A>T (p.Leu2049=) c.4131A>T (p.Leu1377=) c.1821A>T (p.Leu607=) n.6520A>T | |
18 | g.23903060A>C | CA402048805 | LAMA3 | c.1426A>C (p.Thr476Pro) c.6253A>C (p.Thr2085Pro) c.3145A>C (p.Thr1049Pro) c.6085A>C (p.Thr2029Pro) c.1031A>C c.1258A>C (p.Thr420Pro) n.831A>C c.6280A>C (p.Thr2094Pro) c.6271A>C (p.Thr2091Pro) c.6262A>C (p.Thr2088Pro) c.6148A>C (p.Thr2050Pro) c.4132A>C (p.Thr1378Pro) c.1822A>C (p.Thr608Pro) n.6521A>C | |
18 | g.23903060A>G | CA402048807 | LAMA3 | c.1426A>G (p.Thr476Ala) c.6253A>G (p.Thr2085Ala) c.3145A>G (p.Thr1049Ala) c.6085A>G (p.Thr2029Ala) c.1031A>G c.1258A>G (p.Thr420Ala) n.831A>G c.6280A>G (p.Thr2094Ala) c.6271A>G (p.Thr2091Ala) c.6262A>G (p.Thr2088Ala) c.6148A>G (p.Thr2050Ala) c.4132A>G (p.Thr1378Ala) c.1822A>G (p.Thr608Ala) n.6521A>G |