| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23905613_23905617delinsAGCTA | CA2290325069 | LAMA3 | c.1880_1884delinsAGCTA (p.Lys627=) c.6707_6711delinsAGCTA (p.Lys2236=) c.3599_3603delinsAGCTA (p.Lys1200=) c.6539_6543delinsAGCTA (p.Lys2180=) c.1485_1489delinsAGCTA c.1712_1716delinsAGCTA (p.Lys571=) n.1285_1289delinsAGCTA c.6734_6738delinsAGCTA (p.Lys2245=) c.6725_6729delinsAGCTA (p.Lys2242=) c.6716_6720delinsAGCTA (p.Lys2239=) c.6602_6606delinsAGCTA (p.Lys2201=) c.4586_4590delinsAGCTA (p.Lys1529=) c.2276_2280delinsAGCTA (p.Lys759=) n.6975_6979delinsAGCTA | |
| 18 | g.23905614G>A | CA503336646 | LAMA3 | c.1881G>A (p.Lys627=) c.6708G>A (p.Lys2236=) c.3600G>A (p.Lys1200=) c.6540G>A (p.Lys2180=) c.1486G>A c.1713G>A (p.Lys571=) n.1286G>A c.6735G>A (p.Lys2245=) c.6726G>A (p.Lys2242=) c.6717G>A (p.Lys2239=) c.6603G>A (p.Lys2201=) c.4587G>A (p.Lys1529=) c.2277G>A (p.Lys759=) n.6976G>A | gnomAD v4 |
| 18 | g.23905614G>C | CA8916460 | LAMA3 | c.1881G>C (p.Lys627Asn) c.6708G>C (p.Lys2236Asn) c.3600G>C (p.Lys1200Asn) c.6540G>C (p.Lys2180Asn) c.1486G>C c.1713G>C (p.Lys571Asn) n.1286G>C c.6735G>C (p.Lys2245Asn) c.6726G>C (p.Lys2242Asn) c.6717G>C (p.Lys2239Asn) c.6603G>C (p.Lys2201Asn) c.4587G>C (p.Lys1529Asn) c.2277G>C (p.Lys759Asn) n.6976G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23905614G= | CA2290325070 | LAMA3 | c.1881G= (p.Lys627=) c.6708G= (p.Lys2236=) c.3600G= (p.Lys1200=) c.6540G= (p.Lys2180=) c.1486G= c.1713G= (p.Lys571=) n.1286G= c.6735G= (p.Lys2245=) c.6726G= (p.Lys2242=) c.6717G= (p.Lys2239=) c.6603G= (p.Lys2201=) c.4587G= (p.Lys1529=) c.2277G= (p.Lys759=) n.6976G= | |
| 18 | g.23905614G>T | CA402051477 | LAMA3 | c.1881G>T (p.Lys627Asn) c.6708G>T (p.Lys2236Asn) c.3600G>T (p.Lys1200Asn) c.6540G>T (p.Lys2180Asn) c.1486G>T c.1713G>T (p.Lys571Asn) n.1286G>T c.6735G>T (p.Lys2245Asn) c.6726G>T (p.Lys2242Asn) c.6717G>T (p.Lys2239Asn) c.6603G>T (p.Lys2201Asn) c.4587G>T (p.Lys1529Asn) c.2277G>T (p.Lys759Asn) n.6976G>T | dbSNP gnomAD v4 |
| 18 | g.23905614_23905617delinsCCT | CA16041937 | LAMA3 | c.1881_1884delinsCCT (p.Lys627AsnfsTer17) c.6708_6711delinsCCT (p.Lys2236AsnfsTer17) c.3600_3603delinsCCT (p.Lys1200AsnfsTer5) c.6540_6543delinsCCT (p.Lys2180AsnfsTer17) c.1486_1489delinsCCT c.1713_1716delinsCCT (p.Lys571AsnfsTer17) n.1286_1289delinsCCT c.6735_6738delinsCCT (p.Lys2245AsnfsTer17) c.6726_6729delinsCCT (p.Lys2242AsnfsTer17) c.6717_6720delinsCCT (p.Lys2239AsnfsTer17) c.6603_6606delinsCCT (p.Lys2201AsnfsTer17) c.6735_6738delinsCCT (p.Lys2245AsnfsTer5) c.4587_4590delinsCCT (p.Lys1529AsnfsTer17) c.2277_2280delinsCCT (p.Lys759AsnfsTer17) n.6976_6979delinsCCT | ClinVar dbSNP |
| 18 | g.23905615C>A | CA402051478 | LAMA3 | c.1882C>A (p.Leu628Ile) c.6709C>A (p.Leu2237Ile) c.3601C>A (p.Leu1201Ile) c.6541C>A (p.Leu2181Ile) c.1487C>A c.1714C>A (p.Leu572Ile) n.1287C>A c.6736C>A (p.Leu2246Ile) c.6727C>A (p.Leu2243Ile) c.6718C>A (p.Leu2240Ile) c.6604C>A (p.Leu2202Ile) c.4588C>A (p.Leu1530Ile) c.2278C>A (p.Leu760Ile) n.6977C>A | dbSNP gnomAD v4 |
| 18 | g.23905615C= | CA2290325071 | LAMA3 | c.1882C= (p.Leu628=) c.6709C= (p.Leu2237=) c.3601C= (p.Leu1201=) c.6541C= (p.Leu2181=) c.1487C= c.1714C= (p.Leu572=) n.1287C= c.6736C= (p.Leu2246=) c.6727C= (p.Leu2243=) c.6718C= (p.Leu2240=) c.6604C= (p.Leu2202=) c.4588C= (p.Leu1530=) c.2278C= (p.Leu760=) n.6977C= | |
| 18 | g.23905615C>G | CA402051479 | LAMA3 | c.1882C>G (p.Leu628Val) c.6709C>G (p.Leu2237Val) c.3601C>G (p.Leu1201Val) c.6541C>G (p.Leu2181Val) c.1487C>G c.1714C>G (p.Leu572Val) n.1287C>G c.6736C>G (p.Leu2246Val) c.6727C>G (p.Leu2243Val) c.6718C>G (p.Leu2240Val) c.6604C>G (p.Leu2202Val) c.4588C>G (p.Leu1530Val) c.2278C>G (p.Leu760Val) n.6977C>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23905615C>T | CA503336649 | LAMA3 | c.1882C>T (p.Leu628=) c.6709C>T (p.Leu2237=) c.3601C>T (p.Leu1201=) c.6541C>T (p.Leu2181=) c.1487C>T c.1714C>T (p.Leu572=) n.1287C>T c.6736C>T (p.Leu2246=) c.6727C>T (p.Leu2243=) c.6718C>T (p.Leu2240=) c.6604C>T (p.Leu2202=) c.4588C>T (p.Leu1530=) c.2278C>T (p.Leu760=) n.6977C>T | |
| 18 | g.23905616T>A | CA402051480 | LAMA3 | c.1883T>A (p.Leu628Gln) c.6710T>A (p.Leu2237Gln) c.3602T>A (p.Leu1201Gln) c.6542T>A (p.Leu2181Gln) c.1488T>A c.1715T>A (p.Leu572Gln) n.1288T>A c.6737T>A (p.Leu2246Gln) c.6728T>A (p.Leu2243Gln) c.6719T>A (p.Leu2240Gln) c.6605T>A (p.Leu2202Gln) c.4589T>A (p.Leu1530Gln) c.2279T>A (p.Leu760Gln) n.6978T>A | |
| 18 | g.23905616T>C | CA8916461 | LAMA3 | c.1883T>C (p.Leu628Pro) c.6710T>C (p.Leu2237Pro) c.3602T>C (p.Leu1201Pro) c.6542T>C (p.Leu2181Pro) c.1488T>C c.1715T>C (p.Leu572Pro) n.1288T>C c.6737T>C (p.Leu2246Pro) c.6728T>C (p.Leu2243Pro) c.6719T>C (p.Leu2240Pro) c.6605T>C (p.Leu2202Pro) c.4589T>C (p.Leu1530Pro) c.2279T>C (p.Leu760Pro) n.6978T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23905616T>G | CA402051481 | LAMA3 | c.1883T>G (p.Leu628Arg) c.6710T>G (p.Leu2237Arg) c.3602T>G (p.Leu1201Arg) c.6542T>G (p.Leu2181Arg) c.1488T>G c.1715T>G (p.Leu572Arg) n.1288T>G c.6737T>G (p.Leu2246Arg) c.6728T>G (p.Leu2243Arg) c.6719T>G (p.Leu2240Arg) c.6605T>G (p.Leu2202Arg) c.4589T>G (p.Leu1530Arg) c.2279T>G (p.Leu760Arg) n.6978T>G | |
| 18 | g.23905616T= | CA2290325072 | LAMA3 | c.1883T= (p.Leu628=) c.6710T= (p.Leu2237=) c.3602T= (p.Leu1201=) c.6542T= (p.Leu2181=) c.1488T= c.1715T= (p.Leu572=) n.1288T= c.6737T= (p.Leu2246=) c.6728T= (p.Leu2243=) c.6719T= (p.Leu2240=) c.6605T= (p.Leu2202=) c.4589T= (p.Leu1530=) c.2279T= (p.Leu760=) n.6978T= | |
| 18 | g.23905617A>C | CA503336652 | LAMA3 | c.1884A>C (p.Leu628=) c.6711A>C (p.Leu2237=) c.3603A>C (p.Leu1201=) c.6543A>C (p.Leu2181=) c.1489A>C c.1716A>C (p.Leu572=) n.1289A>C c.6738A>C (p.Leu2246=) c.6729A>C (p.Leu2243=) c.6720A>C (p.Leu2240=) c.6606A>C (p.Leu2202=) c.4590A>C (p.Leu1530=) c.2280A>C (p.Leu760=) n.6979A>C | |
| 18 | g.23905617A>G | CA503336653 | LAMA3 | c.1884A>G (p.Leu628=) c.6711A>G (p.Leu2237=) c.3603A>G (p.Leu1201=) c.6543A>G (p.Leu2181=) c.1489A>G c.1716A>G (p.Leu572=) n.1289A>G c.6738A>G (p.Leu2246=) c.6729A>G (p.Leu2243=) c.6720A>G (p.Leu2240=) c.6606A>G (p.Leu2202=) c.4590A>G (p.Leu1530=) c.2280A>G (p.Leu760=) n.6979A>G | |
| 18 | g.23905617A>T | CA503336654 | LAMA3 | c.1884A>T (p.Leu628=) c.6711A>T (p.Leu2237=) c.3603A>T (p.Leu1201=) c.6543A>T (p.Leu2181=) c.1489A>T c.1716A>T (p.Leu572=) n.1289A>T c.6738A>T (p.Leu2246=) c.6729A>T (p.Leu2243=) c.6720A>T (p.Leu2240=) c.6606A>T (p.Leu2202=) c.4590A>T (p.Leu1530=) c.2280A>T (p.Leu760=) n.6979A>T | |
| 18 | g.23905617_23905653del | CA2641294865 | LAMA3 | c.1884_1891+29del c.6711_6718+29del c.3603_3610+29del c.6543_6550+29del c.1489_1496+29del c.1716_1723+29del n.1289_1296+29del c.6738_6745+29del c.6729_6736+29del c.6720_6727+29del c.6606_6613+29del c.4590_4597+29del c.2280_2287+29del n.6979_6986+29del | gnomAD v4 |
| 18 | g.23905618A= | CA2290325073 | LAMA3 | c.1885A= (p.Lys629=) c.6712A= (p.Lys2238=) c.3604A= (p.Lys1202=) c.6544A= (p.Lys2182=) c.1490A= c.1717A= (p.Lys573=) n.1290A= c.6739A= (p.Lys2247=) c.6730A= (p.Lys2244=) c.6721A= (p.Lys2241=) c.6607A= (p.Lys2203=) c.4591A= (p.Lys1531=) c.2281A= (p.Lys761=) n.6980A= | |
| 18 | g.23905618A>C | CA402051483 | LAMA3 | c.1885A>C (p.Lys629Gln) c.6712A>C (p.Lys2238Gln) c.3604A>C (p.Lys1202Gln) c.6544A>C (p.Lys2182Gln) c.1490A>C c.1717A>C (p.Lys573Gln) n.1290A>C c.6739A>C (p.Lys2247Gln) c.6730A>C (p.Lys2244Gln) c.6721A>C (p.Lys2241Gln) c.6607A>C (p.Lys2203Gln) c.4591A>C (p.Lys1531Gln) c.2281A>C (p.Lys761Gln) n.6980A>C | gnomAD v4 |
| 18 | g.23905618A>G | CA8916462 | LAMA3 | c.1885A>G (p.Lys629Glu) c.6712A>G (p.Lys2238Glu) c.3604A>G (p.Lys1202Glu) c.6544A>G (p.Lys2182Glu) c.1490A>G c.1717A>G (p.Lys573Glu) n.1290A>G c.6739A>G (p.Lys2247Glu) c.6730A>G (p.Lys2244Glu) c.6721A>G (p.Lys2241Glu) c.6607A>G (p.Lys2203Glu) c.4591A>G (p.Lys1531Glu) c.2281A>G (p.Lys761Glu) n.6980A>G | dbSNP ExAC gnomAD v2 |
| 18 | g.23905618A>T | CA402051482 | LAMA3 | c.1885A>T (p.Lys629Ter) c.6712A>T (p.Lys2238Ter) c.3604A>T (p.Lys1202Ter) c.6544A>T (p.Lys2182Ter) c.1490A>T c.1717A>T (p.Lys573Ter) n.1290A>T c.6739A>T (p.Lys2247Ter) c.6730A>T (p.Lys2244Ter) c.6721A>T (p.Lys2241Ter) c.6607A>T (p.Lys2203Ter) c.4591A>T (p.Lys1531Ter) c.2281A>T (p.Lys761Ter) n.6980A>T | |
| 18 | g.23905619A>C | CA402051484 | LAMA3 | c.1886A>C (p.Lys629Thr) c.6713A>C (p.Lys2238Thr) c.3605A>C (p.Lys1202Thr) c.6545A>C (p.Lys2182Thr) c.1491A>C c.1718A>C (p.Lys573Thr) n.1291A>C c.6740A>C (p.Lys2247Thr) c.6731A>C (p.Lys2244Thr) c.6722A>C (p.Lys2241Thr) c.6608A>C (p.Lys2203Thr) c.4592A>C (p.Lys1531Thr) c.2282A>C (p.Lys761Thr) n.6981A>C | gnomAD v4 |
| 18 | g.23905619A>G | CA402051485 | LAMA3 | c.1886A>G (p.Lys629Arg) c.6713A>G (p.Lys2238Arg) c.3605A>G (p.Lys1202Arg) c.6545A>G (p.Lys2182Arg) c.1491A>G c.1718A>G (p.Lys573Arg) n.1291A>G c.6740A>G (p.Lys2247Arg) c.6731A>G (p.Lys2244Arg) c.6722A>G (p.Lys2241Arg) c.6608A>G (p.Lys2203Arg) c.4592A>G (p.Lys1531Arg) c.2282A>G (p.Lys761Arg) n.6981A>G | gnomAD v4 |
| 18 | g.23905619A>T | CA402051486 | LAMA3 | c.1886A>T (p.Lys629Met) c.6713A>T (p.Lys2238Met) c.3605A>T (p.Lys1202Met) c.6545A>T (p.Lys2182Met) c.1491A>T c.1718A>T (p.Lys573Met) n.1291A>T c.6740A>T (p.Lys2247Met) c.6731A>T (p.Lys2244Met) c.6722A>T (p.Lys2241Met) c.6608A>T (p.Lys2203Met) c.4592A>T (p.Lys1531Met) c.2282A>T (p.Lys761Met) n.6981A>T | |
| 18 | g.23905620G>A | CA503336658 | LAMA3 | c.1887G>A (p.Lys629=) c.6714G>A (p.Lys2238=) c.3606G>A (p.Lys1202=) c.6546G>A (p.Lys2182=) c.1492G>A c.1719G>A (p.Lys573=) n.1292G>A c.6741G>A (p.Lys2247=) c.6732G>A (p.Lys2244=) c.6723G>A (p.Lys2241=) c.6609G>A (p.Lys2203=) c.4593G>A (p.Lys1531=) c.2283G>A (p.Lys761=) n.6982G>A | gnomAD v4 |
| 18 | g.23905620G>C | CA402051487 | LAMA3 | c.1887G>C (p.Lys629Asn) c.6714G>C (p.Lys2238Asn) c.3606G>C (p.Lys1202Asn) c.6546G>C (p.Lys2182Asn) c.1492G>C c.1719G>C (p.Lys573Asn) n.1292G>C c.6741G>C (p.Lys2247Asn) c.6732G>C (p.Lys2244Asn) c.6723G>C (p.Lys2241Asn) c.6609G>C (p.Lys2203Asn) c.4593G>C (p.Lys1531Asn) c.2283G>C (p.Lys761Asn) n.6982G>C | |
| 18 | g.23905620G>T | CA402051488 | LAMA3 | c.1887G>T (p.Lys629Asn) c.6714G>T (p.Lys2238Asn) c.3606G>T (p.Lys1202Asn) c.6546G>T (p.Lys2182Asn) c.1492G>T c.1719G>T (p.Lys573Asn) n.1292G>T c.6741G>T (p.Lys2247Asn) c.6732G>T (p.Lys2244Asn) c.6723G>T (p.Lys2241Asn) c.6609G>T (p.Lys2203Asn) c.4593G>T (p.Lys1531Asn) c.2283G>T (p.Lys761Asn) n.6982G>T | |
| 18 | g.23905621C>A | CA402051489 | LAMA3 | c.1888C>A (p.Gln630Lys) c.6715C>A (p.Gln2239Lys) c.3607C>A (p.Gln1203Lys) c.6547C>A (p.Gln2183Lys) c.1493C>A c.1720C>A (p.Gln574Lys) n.1293C>A c.6742C>A (p.Gln2248Lys) c.6733C>A (p.Gln2245Lys) c.6724C>A (p.Gln2242Lys) c.6610C>A (p.Gln2204Lys) c.4594C>A (p.Gln1532Lys) c.2284C>A (p.Gln762Lys) n.6983C>A | |
| 18 | g.23905621C>G | CA402051490 | LAMA3 | c.1888C>G (p.Gln630Glu) c.6715C>G (p.Gln2239Glu) c.3607C>G (p.Gln1203Glu) c.6547C>G (p.Gln2183Glu) c.1493C>G c.1720C>G (p.Gln574Glu) n.1293C>G c.6742C>G (p.Gln2248Glu) c.6733C>G (p.Gln2245Glu) c.6724C>G (p.Gln2242Glu) c.6610C>G (p.Gln2204Glu) c.4594C>G (p.Gln1532Glu) c.2284C>G (p.Gln762Glu) n.6983C>G | |
| 18 | g.23905621C>T | CA402051491 | LAMA3 | c.1888C>T (p.Gln630Ter) c.6715C>T (p.Gln2239Ter) c.3607C>T (p.Gln1203Ter) c.6547C>T (p.Gln2183Ter) c.1493C>T c.1720C>T (p.Gln574Ter) n.1293C>T c.6742C>T (p.Gln2248Ter) c.6733C>T (p.Gln2245Ter) c.6724C>T (p.Gln2242Ter) c.6610C>T (p.Gln2204Ter) c.4594C>T (p.Gln1532Ter) c.2284C>T (p.Gln762Ter) n.6983C>T | |
| 18 | g.23905622A>C | CA402051492 | LAMA3 | c.1889A>C (p.Gln630Pro) c.6716A>C (p.Gln2239Pro) c.3608A>C (p.Gln1203Pro) c.6548A>C (p.Gln2183Pro) c.1494A>C c.1721A>C (p.Gln574Pro) n.1294A>C c.6743A>C (p.Gln2248Pro) c.6734A>C (p.Gln2245Pro) c.6725A>C (p.Gln2242Pro) c.6611A>C (p.Gln2204Pro) c.4595A>C (p.Gln1532Pro) c.2285A>C (p.Gln762Pro) n.6984A>C | |
| 18 | g.23905622A>G | CA402051493 | LAMA3 | c.1889A>G (p.Gln630Arg) c.6716A>G (p.Gln2239Arg) c.3608A>G (p.Gln1203Arg) c.6548A>G (p.Gln2183Arg) c.1494A>G c.1721A>G (p.Gln574Arg) n.1294A>G c.6743A>G (p.Gln2248Arg) c.6734A>G (p.Gln2245Arg) c.6725A>G (p.Gln2242Arg) c.6611A>G (p.Gln2204Arg) c.4595A>G (p.Gln1532Arg) c.2285A>G (p.Gln762Arg) n.6984A>G | |
| 18 | g.23905622A>T | CA402051494 | LAMA3 | c.1889A>T (p.Gln630Leu) c.6716A>T (p.Gln2239Leu) c.3608A>T (p.Gln1203Leu) c.6548A>T (p.Gln2183Leu) c.1494A>T c.1721A>T (p.Gln574Leu) n.1294A>T c.6743A>T (p.Gln2248Leu) c.6734A>T (p.Gln2245Leu) c.6725A>T (p.Gln2242Leu) c.6611A>T (p.Gln2204Leu) c.4595A>T (p.Gln1532Leu) c.2285A>T (p.Gln762Leu) n.6984A>T | |
| 18 | g.23905623A>C | CA402051495 | LAMA3 | c.1890A>C (p.Gln630His) c.6717A>C (p.Gln2239His) c.3609A>C (p.Gln1203His) c.6549A>C (p.Gln2183His) c.1495A>C c.1722A>C (p.Gln574His) n.1295A>C c.6744A>C (p.Gln2248His) c.6735A>C (p.Gln2245His) c.6726A>C (p.Gln2242His) c.6612A>C (p.Gln2204His) c.4596A>C (p.Gln1532His) c.2286A>C (p.Gln762His) n.6985A>C | |
| 18 | g.23905623A>G | CA503336662 | LAMA3 | c.1890A>G (p.Gln630=) c.6717A>G (p.Gln2239=) c.3609A>G (p.Gln1203=) c.6549A>G (p.Gln2183=) c.1495A>G c.1722A>G (p.Gln574=) n.1295A>G c.6744A>G (p.Gln2248=) c.6735A>G (p.Gln2245=) c.6726A>G (p.Gln2242=) c.6612A>G (p.Gln2204=) c.4596A>G (p.Gln1532=) c.2286A>G (p.Gln762=) n.6985A>G | |
| 18 | g.23905623A>T | CA402051496 | LAMA3 | c.1890A>T (p.Gln630His) c.6717A>T (p.Gln2239His) c.3609A>T (p.Gln1203His) c.6549A>T (p.Gln2183His) c.1495A>T c.1722A>T (p.Gln574His) n.1295A>T c.6744A>T (p.Gln2248His) c.6735A>T (p.Gln2245His) c.6726A>T (p.Gln2242His) c.6612A>T (p.Gln2204His) c.4596A>T (p.Gln1532His) c.2286A>T (p.Gln762His) n.6985A>T | |
| 18 | g.23905624G>A | CA402051498 | LAMA3 | c.1891G>A (p.Glu631Lys) c.6718G>A (p.Glu2240Lys) c.3610G>A (p.Val1204Met) c.6550G>A (p.Glu2184Lys) c.1496G>A c.1723G>A (p.Glu575Lys) n.1296G>A c.6745G>A (p.Glu2249Lys) c.6736G>A (p.Glu2246Lys) c.6727G>A (p.Glu2243Lys) c.6613G>A (p.Glu2205Lys) c.6745G>A (p.Val2249Met) c.4597G>A (p.Glu1533Lys) c.2287G>A (p.Glu763Lys) n.6986G>A | dbSNP gnomAD v4 |
| 18 | g.23905624G>C | CA402051499 | LAMA3 | c.1891G>C (p.Glu631Gln) c.6718G>C (p.Glu2240Gln) c.3610G>C (p.Val1204Leu) c.6550G>C (p.Glu2184Gln) c.1496G>C c.1723G>C (p.Glu575Gln) n.1296G>C c.6745G>C (p.Glu2249Gln) c.6736G>C (p.Glu2246Gln) c.6727G>C (p.Glu2243Gln) c.6613G>C (p.Glu2205Gln) c.6745G>C (p.Val2249Leu) c.4597G>C (p.Glu1533Gln) c.2287G>C (p.Glu763Gln) n.6986G>C | |
| 18 | g.23905624G= | CA2290325074 | LAMA3 | c.1891G= (p.Glu631=) c.6718G= (p.Glu2240=) c.3610G= (p.Val1204=) c.6550G= (p.Glu2184=) c.1496G= c.1723G= (p.Glu575=) n.1296G= c.6745G= (p.Glu2249=) c.6736G= (p.Glu2246=) c.6727G= (p.Glu2243=) c.6613G= (p.Glu2205=) c.6745G= (p.Val2249=) c.4597G= (p.Glu1533=) c.2287G= (p.Glu763=) n.6986G= | |
| 18 | g.23905624G>T | CA402051497 | LAMA3 | c.1891G>T (p.Glu631Ter) c.6718G>T (p.Glu2240Ter) c.3610G>T (p.Val1204Leu) c.6550G>T (p.Glu2184Ter) c.1496G>T c.1723G>T (p.Glu575Ter) n.1296G>T c.6745G>T (p.Glu2249Ter) c.6736G>T (p.Glu2246Ter) c.6727G>T (p.Glu2243Ter) c.6613G>T (p.Glu2205Ter) c.6745G>T (p.Val2249Leu) c.4597G>T (p.Glu1533Ter) c.2287G>T (p.Glu763Ter) n.6986G>T | COSMIC COSMIC |
| 18 | g.23905625G>A | CA402051502 | LAMA3 | c.1891+1G>A (n.1891+1G>A) c.6718+1G>A (n.6718+1G>A) c.3610+1G>A (n.3610+1G>A) c.6550+1G>A (n.6550+1G>A) c.1496+1G>A c.1723+1G>A (n.1723+1G>A) n.1296+1G>A c.6745+1G>A (n.6745+1G>A) c.6736+1G>A (n.6736+1G>A) c.6727+1G>A (n.6727+1G>A) c.6613+1G>A (n.6613+1G>A) c.4597+1G>A (n.4597+1G>A) c.2287+1G>A (n.2287+1G>A) n.6986+1G>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23905625G>C | CA402051500 | LAMA3 | c.1891+1G>C (n.1891+1G>C) c.6718+1G>C (n.6718+1G>C) c.3610+1G>C (n.3610+1G>C) c.6550+1G>C (n.6550+1G>C) c.1496+1G>C c.1723+1G>C (n.1723+1G>C) n.1296+1G>C c.6745+1G>C (n.6745+1G>C) c.6736+1G>C (n.6736+1G>C) c.6727+1G>C (n.6727+1G>C) c.6613+1G>C (n.6613+1G>C) c.4597+1G>C (n.4597+1G>C) c.2287+1G>C (n.2287+1G>C) n.6986+1G>C | |
| 18 | g.23905625G= | CA2290325075 | LAMA3 | c.1891+1G= (n.1891+1G=) c.6718+1G= (n.6718+1G=) c.3610+1G= (n.3610+1G=) c.6550+1G= (n.6550+1G=) c.1496+1G= c.1723+1G= (n.1723+1G=) n.1296+1G= c.6745+1G= (n.6745+1G=) c.6736+1G= (n.6736+1G=) c.6727+1G= (n.6727+1G=) c.6613+1G= (n.6613+1G=) c.4597+1G= (n.4597+1G=) c.2287+1G= (n.2287+1G=) n.6986+1G= | |
| 18 | g.23905625G>T | CA402051501 | LAMA3 | c.1891+1G>T (n.1891+1G>T) c.6718+1G>T (n.6718+1G>T) c.3610+1G>T (n.3610+1G>T) c.6550+1G>T (n.6550+1G>T) c.1496+1G>T c.1723+1G>T (n.1723+1G>T) n.1296+1G>T c.6745+1G>T (n.6745+1G>T) c.6736+1G>T (n.6736+1G>T) c.6727+1G>T (n.6727+1G>T) c.6613+1G>T (n.6613+1G>T) c.4597+1G>T (n.4597+1G>T) c.2287+1G>T (n.2287+1G>T) n.6986+1G>T | |
| 18 | g.23905626T>A | CA402051503 | LAMA3 | c.1891+2T>A (n.1891+2T>A) c.6718+2T>A (n.6718+2T>A) c.3610+2T>A (n.3610+2T>A) c.6550+2T>A (n.6550+2T>A) c.1496+2T>A c.1723+2T>A (n.1723+2T>A) n.1296+2T>A c.6745+2T>A (n.6745+2T>A) c.6736+2T>A (n.6736+2T>A) c.6727+2T>A (n.6727+2T>A) c.6613+2T>A (n.6613+2T>A) c.4597+2T>A (n.4597+2T>A) c.2287+2T>A (n.2287+2T>A) n.6986+2T>A | |
| 18 | g.23905626T>C | CA402051504 | LAMA3 | c.1891+2T>C (n.1891+2T>C) c.6718+2T>C (n.6718+2T>C) c.3610+2T>C (n.3610+2T>C) c.6550+2T>C (n.6550+2T>C) c.1496+2T>C c.1723+2T>C (n.1723+2T>C) n.1296+2T>C c.6745+2T>C (n.6745+2T>C) c.6736+2T>C (n.6736+2T>C) c.6727+2T>C (n.6727+2T>C) c.6613+2T>C (n.6613+2T>C) c.4597+2T>C (n.4597+2T>C) c.2287+2T>C (n.2287+2T>C) n.6986+2T>C | |
| 18 | g.23905626T>G | CA402051505 | LAMA3 | c.1891+2T>G (n.1891+2T>G) c.6718+2T>G (n.6718+2T>G) c.3610+2T>G (n.3610+2T>G) c.6550+2T>G (n.6550+2T>G) c.1496+2T>G c.1723+2T>G (n.1723+2T>G) n.1296+2T>G c.6745+2T>G (n.6745+2T>G) c.6736+2T>G (n.6736+2T>G) c.6727+2T>G (n.6727+2T>G) c.6613+2T>G (n.6613+2T>G) c.4597+2T>G (n.4597+2T>G) c.2287+2T>G (n.2287+2T>G) n.6986+2T>G | |
| 18 | g.23905627A= | CA2290325076 | LAMA3 | c.1891+3A= (n.1891+3A=) c.6718+3A= (n.6718+3A=) c.3610+3A= (n.3610+3A=) c.6550+3A= (n.6550+3A=) c.1496+3A= c.1723+3A= (n.1723+3A=) n.1296+3A= c.6745+3A= (n.6745+3A=) c.6736+3A= (n.6736+3A=) c.6727+3A= (n.6727+3A=) c.6613+3A= (n.6613+3A=) c.4597+3A= (n.4597+3A=) c.2287+3A= (n.2287+3A=) n.6986+3A= | |
| 18 | g.23905627A>G | CA628685029 | LAMA3 | c.1891+3A>G (n.1891+3A>G) c.6718+3A>G (n.6718+3A>G) c.3610+3A>G (n.3610+3A>G) c.6550+3A>G (n.6550+3A>G) c.1496+3A>G c.1723+3A>G (n.1723+3A>G) n.1296+3A>G c.6745+3A>G (n.6745+3A>G) c.6736+3A>G (n.6736+3A>G) c.6727+3A>G (n.6727+3A>G) c.6613+3A>G (n.6613+3A>G) c.4597+3A>G (n.4597+3A>G) c.2287+3A>G (n.2287+3A>G) n.6986+3A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |