Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23904582_23904583delinsTG | CA2290324635 | LAMA3 | c.1676_1677delinsTG (p.Leu559=) c.6503_6504delinsTG (p.Leu2168=) c.3395_3396delinsTG (p.Leu1132=) c.6335_6336delinsTG (p.Leu2112=) c.1281_1282delinsTG c.1508_1509delinsTG (p.Leu503=) n.1081_1082delinsTG c.6530_6531delinsTG (p.Leu2177=) c.6521_6522delinsTG (p.Leu2174=) c.6512_6513delinsTG (p.Leu2171=) c.6398_6399delinsTG (p.Leu2133=) c.4382_4383delinsTG (p.Leu1461=) c.2072_2073delinsTG (p.Leu691=) n.6771_6772delinsTG | |
18 | g.23904583G>A | CA503336284 | LAMA3 | c.1677G>A (p.Leu559=) c.6504G>A (p.Leu2168=) c.3396G>A (p.Leu1132=) c.6336G>A (p.Leu2112=) c.1282G>A c.1509G>A (p.Leu503=) n.1082G>A c.6531G>A (p.Leu2177=) c.6522G>A (p.Leu2174=) c.6513G>A (p.Leu2171=) c.6399G>A (p.Leu2133=) c.4383G>A (p.Leu1461=) c.2073G>A (p.Leu691=) n.6772G>A | COSMIC COSMIC |
18 | g.23904583G>C | CA503336294 | LAMA3 | c.1677G>C (p.Leu559=) c.6504G>C (p.Leu2168=) c.3396G>C (p.Leu1132=) c.6336G>C (p.Leu2112=) c.1282G>C c.1509G>C (p.Leu503=) n.1082G>C c.6531G>C (p.Leu2177=) c.6522G>C (p.Leu2174=) c.6513G>C (p.Leu2171=) c.6399G>C (p.Leu2133=) c.4383G>C (p.Leu1461=) c.2073G>C (p.Leu691=) n.6772G>C | |
18 | g.23904583G>T | CA503336287 | LAMA3 | c.1677G>T (p.Leu559=) c.6504G>T (p.Leu2168=) c.3396G>T (p.Leu1132=) c.6336G>T (p.Leu2112=) c.1282G>T c.1509G>T (p.Leu503=) n.1082G>T c.6531G>T (p.Leu2177=) c.6522G>T (p.Leu2174=) c.6513G>T (p.Leu2171=) c.6399G>T (p.Leu2133=) c.4383G>T (p.Leu1461=) c.2073G>T (p.Leu691=) n.6772G>T | |
18 | g.23904584del | CA16041936 | LAMA3 | c.1678del (p.Val560CysfsTer?) c.6505del (p.Val2169CysfsTer?) c.3397del (p.Val1133CysfsTer?) c.6337del (p.Val2113CysfsTer?) c.1283del c.1510del (p.Val504CysfsTer?) n.1083del c.6532del (p.Val2178CysfsTer?) c.6523del (p.Val2175CysfsTer?) c.6514del (p.Val2172CysfsTer?) c.6400del (p.Val2134CysfsTer?) c.4384del (p.Val1462CysfsTer?) c.2074del (p.Val692CysfsTer?) n.6773del | ClinVar dbSNP gnomAD v4 |
18 | g.23904584G>A | CA402050361 | LAMA3 | c.1678G>A (p.Val560Met) c.6505G>A (p.Val2169Met) c.3397G>A (p.Val1133Met) c.6337G>A (p.Val2113Met) c.1283G>A c.1510G>A (p.Val504Met) n.1083G>A c.6532G>A (p.Val2178Met) c.6523G>A (p.Val2175Met) c.6514G>A (p.Val2172Met) c.6400G>A (p.Val2134Met) c.4384G>A (p.Val1462Met) c.2074G>A (p.Val692Met) n.6773G>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23904584G>C | CA402050362 | LAMA3 | c.1678G>C (p.Val560Leu) c.6505G>C (p.Val2169Leu) c.3397G>C (p.Val1133Leu) c.6337G>C (p.Val2113Leu) c.1283G>C c.1510G>C (p.Val504Leu) n.1083G>C c.6532G>C (p.Val2178Leu) c.6523G>C (p.Val2175Leu) c.6514G>C (p.Val2172Leu) c.6400G>C (p.Val2134Leu) c.4384G>C (p.Val1462Leu) c.2074G>C (p.Val692Leu) n.6773G>C | |
18 | g.23904584G= | CA2290324636 | LAMA3 | c.1678G= (p.Val560=) c.6505G= (p.Val2169=) c.3397G= (p.Val1133=) c.6337G= (p.Val2113=) c.1283G= c.1510G= (p.Val504=) n.1083G= c.6532G= (p.Val2178=) c.6523G= (p.Val2175=) c.6514G= (p.Val2172=) c.6400G= (p.Val2134=) c.4384G= (p.Val1462=) c.2074G= (p.Val692=) n.6773G= | |
18 | g.23904584G>T | CA402050363 | LAMA3 | c.1678G>T (p.Val560Leu) c.6505G>T (p.Val2169Leu) c.3397G>T (p.Val1133Leu) c.6337G>T (p.Val2113Leu) c.1283G>T c.1510G>T (p.Val504Leu) n.1083G>T c.6532G>T (p.Val2178Leu) c.6523G>T (p.Val2175Leu) c.6514G>T (p.Val2172Leu) c.6400G>T (p.Val2134Leu) c.4384G>T (p.Val1462Leu) c.2074G>T (p.Val692Leu) n.6773G>T | |
18 | g.23904585T>A | CA402050365 | LAMA3 | c.1679T>A (p.Val560Glu) c.6506T>A (p.Val2169Glu) c.3398T>A (p.Val1133Glu) c.6338T>A (p.Val2113Glu) c.1284T>A c.1511T>A (p.Val504Glu) n.1084T>A c.6533T>A (p.Val2178Glu) c.6524T>A (p.Val2175Glu) c.6515T>A (p.Val2172Glu) c.6401T>A (p.Val2134Glu) c.4385T>A (p.Val1462Glu) c.2075T>A (p.Val692Glu) n.6774T>A | |
18 | g.23904585T>C | CA402050364 | LAMA3 | c.1679T>C (p.Val560Ala) c.6506T>C (p.Val2169Ala) c.3398T>C (p.Val1133Ala) c.6338T>C (p.Val2113Ala) c.1284T>C c.1511T>C (p.Val504Ala) n.1084T>C c.6533T>C (p.Val2178Ala) c.6524T>C (p.Val2175Ala) c.6515T>C (p.Val2172Ala) c.6401T>C (p.Val2134Ala) c.4385T>C (p.Val1462Ala) c.2075T>C (p.Val692Ala) n.6774T>C | dbSNP |
18 | g.23904585T>G | CA402050366 | LAMA3 | c.1679T>G (p.Val560Gly) c.6506T>G (p.Val2169Gly) c.3398T>G (p.Val1133Gly) c.6338T>G (p.Val2113Gly) c.1284T>G c.1511T>G (p.Val504Gly) n.1084T>G c.6533T>G (p.Val2178Gly) c.6524T>G (p.Val2175Gly) c.6515T>G (p.Val2172Gly) c.6401T>G (p.Val2134Gly) c.4385T>G (p.Val1462Gly) c.2075T>G (p.Val692Gly) n.6774T>G | dbSNP gnomAD v4 |
18 | g.23904585T= | CA2290324637 | LAMA3 | c.1679T= (p.Val560=) c.6506T= (p.Val2169=) c.3398T= (p.Val1133=) c.6338T= (p.Val2113=) c.1284T= c.1511T= (p.Val504=) n.1084T= c.6533T= (p.Val2178=) c.6524T= (p.Val2175=) c.6515T= (p.Val2172=) c.6401T= (p.Val2134=) c.4385T= (p.Val1462=) c.2075T= (p.Val692=) n.6774T= | |
18 | g.23904586G>A | CA503336301 | LAMA3 | c.1680G>A (p.Val560=) c.6507G>A (p.Val2169=) c.3399G>A (p.Val1133=) c.6339G>A (p.Val2113=) c.1285G>A c.1512G>A (p.Val504=) n.1085G>A c.6534G>A (p.Val2178=) c.6525G>A (p.Val2175=) c.6516G>A (p.Val2172=) c.6402G>A (p.Val2134=) c.4386G>A (p.Val1462=) c.2076G>A (p.Val692=) n.6775G>A | ClinVar dbSNP gnomAD v4 |
18 | g.23904586G>C | CA503336302 | LAMA3 | c.1680G>C (p.Val560=) c.6507G>C (p.Val2169=) c.3399G>C (p.Val1133=) c.6339G>C (p.Val2113=) c.1285G>C c.1512G>C (p.Val504=) n.1085G>C c.6534G>C (p.Val2178=) c.6525G>C (p.Val2175=) c.6516G>C (p.Val2172=) c.6402G>C (p.Val2134=) c.4386G>C (p.Val1462=) c.2076G>C (p.Val692=) n.6775G>C | |
18 | g.23904586G= | CA2290324638 | LAMA3 | c.1680G= (p.Val560=) c.6507G= (p.Val2169=) c.3399G= (p.Val1133=) c.6339G= (p.Val2113=) c.1285G= c.1512G= (p.Val504=) n.1085G= c.6534G= (p.Val2178=) c.6525G= (p.Val2175=) c.6516G= (p.Val2172=) c.6402G= (p.Val2134=) c.4386G= (p.Val1462=) c.2076G= (p.Val692=) n.6775G= | |
18 | g.23904586G>T | CA503336305 | LAMA3 | c.1680G>T (p.Val560=) c.6507G>T (p.Val2169=) c.3399G>T (p.Val1133=) c.6339G>T (p.Val2113=) c.1285G>T c.1512G>T (p.Val504=) n.1085G>T c.6534G>T (p.Val2178=) c.6525G>T (p.Val2175=) c.6516G>T (p.Val2172=) c.6402G>T (p.Val2134=) c.4386G>T (p.Val1462=) c.2076G>T (p.Val692=) n.6775G>T | |
18 | g.23904587C>A | CA8916399 | LAMA3 | c.1681C>A (p.Arg561Ser) c.6508C>A (p.Arg2170Ser) c.3400C>A (p.Arg1134Ser) c.6340C>A (p.Arg2114Ser) c.1286C>A c.1513C>A (p.Arg505Ser) n.1086C>A c.6535C>A (p.Arg2179Ser) c.6526C>A (p.Arg2176Ser) c.6517C>A (p.Arg2173Ser) c.6403C>A (p.Arg2135Ser) c.4387C>A (p.Arg1463Ser) c.2077C>A (p.Arg693Ser) n.6776C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23904587C= | CA2290324639 | LAMA3 | c.1681C= (p.Arg561=) c.6508C= (p.Arg2170=) c.3400C= (p.Arg1134=) c.6340C= (p.Arg2114=) c.1286C= c.1513C= (p.Arg505=) n.1086C= c.6535C= (p.Arg2179=) c.6526C= (p.Arg2176=) c.6517C= (p.Arg2173=) c.6403C= (p.Arg2135=) c.4387C= (p.Arg1463=) c.2077C= (p.Arg693=) n.6776C= | |
18 | g.23904587C>G | CA402050367 | LAMA3 | c.1681C>G (p.Arg561Gly) c.6508C>G (p.Arg2170Gly) c.3400C>G (p.Arg1134Gly) c.6340C>G (p.Arg2114Gly) c.1286C>G c.1513C>G (p.Arg505Gly) n.1086C>G c.6535C>G (p.Arg2179Gly) c.6526C>G (p.Arg2176Gly) c.6517C>G (p.Arg2173Gly) c.6403C>G (p.Arg2135Gly) c.4387C>G (p.Arg1463Gly) c.2077C>G (p.Arg693Gly) n.6776C>G | |
18 | g.23904587C>T | CA8916398 | LAMA3 | c.1681C>T (p.Arg561Cys) c.6508C>T (p.Arg2170Cys) c.3400C>T (p.Arg1134Cys) c.6340C>T (p.Arg2114Cys) c.1286C>T c.1513C>T (p.Arg505Cys) n.1086C>T c.6535C>T (p.Arg2179Cys) c.6526C>T (p.Arg2176Cys) c.6517C>T (p.Arg2173Cys) c.6403C>T (p.Arg2135Cys) c.4387C>T (p.Arg1463Cys) c.2077C>T (p.Arg693Cys) n.6776C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23904588G>A | CA8916400 | LAMA3 | c.1682G>A (p.Arg561His) c.6509G>A (p.Arg2170His) c.3401G>A (p.Arg1134His) c.6341G>A (p.Arg2114His) c.1287G>A c.1514G>A (p.Arg505His) n.1087G>A c.6536G>A (p.Arg2179His) c.6527G>A (p.Arg2176His) c.6518G>A (p.Arg2173His) c.6404G>A (p.Arg2135His) c.4388G>A (p.Arg1463His) c.2078G>A (p.Arg693His) n.6777G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23904588G>C | CA8916401 | LAMA3 | c.1682G>C (p.Arg561Pro) c.6509G>C (p.Arg2170Pro) c.3401G>C (p.Arg1134Pro) c.6341G>C (p.Arg2114Pro) c.1287G>C c.1514G>C (p.Arg505Pro) n.1087G>C c.6536G>C (p.Arg2179Pro) c.6527G>C (p.Arg2176Pro) c.6518G>C (p.Arg2173Pro) c.6404G>C (p.Arg2135Pro) c.4388G>C (p.Arg1463Pro) c.2078G>C (p.Arg693Pro) n.6777G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23904588G= | CA2290324640 | LAMA3 | c.1682G= (p.Arg561=) c.6509G= (p.Arg2170=) c.3401G= (p.Arg1134=) c.6341G= (p.Arg2114=) c.1287G= c.1514G= (p.Arg505=) n.1087G= c.6536G= (p.Arg2179=) c.6527G= (p.Arg2176=) c.6518G= (p.Arg2173=) c.6404G= (p.Arg2135=) c.4388G= (p.Arg1463=) c.2078G= (p.Arg693=) n.6777G= | |
18 | g.23904588G>T | CA402050368 | LAMA3 | c.1682G>T (p.Arg561Leu) c.6509G>T (p.Arg2170Leu) c.3401G>T (p.Arg1134Leu) c.6341G>T (p.Arg2114Leu) c.1287G>T c.1514G>T (p.Arg505Leu) n.1087G>T c.6536G>T (p.Arg2179Leu) c.6527G>T (p.Arg2176Leu) c.6518G>T (p.Arg2173Leu) c.6404G>T (p.Arg2135Leu) c.4388G>T (p.Arg1463Leu) c.2078G>T (p.Arg693Leu) n.6777G>T | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23904589C>A | CA503336313 | LAMA3 | c.1683C>A (p.Arg561=) c.6510C>A (p.Arg2170=) c.3402C>A (p.Arg1134=) c.6342C>A (p.Arg2114=) c.1288C>A c.1515C>A (p.Arg505=) n.1088C>A c.6537C>A (p.Arg2179=) c.6528C>A (p.Arg2176=) c.6519C>A (p.Arg2173=) c.6405C>A (p.Arg2135=) c.4389C>A (p.Arg1463=) c.2079C>A (p.Arg693=) n.6778C>A | |
18 | g.23904589C>G | CA503336315 | LAMA3 | c.1683C>G (p.Arg561=) c.6510C>G (p.Arg2170=) c.3402C>G (p.Arg1134=) c.6342C>G (p.Arg2114=) c.1288C>G c.1515C>G (p.Arg505=) n.1088C>G c.6537C>G (p.Arg2179=) c.6528C>G (p.Arg2176=) c.6519C>G (p.Arg2173=) c.6405C>G (p.Arg2135=) c.4389C>G (p.Arg1463=) c.2079C>G (p.Arg693=) n.6778C>G | |
18 | g.23904589C>T | CA503336317 | LAMA3 | c.1683C>T (p.Arg561=) c.6510C>T (p.Arg2170=) c.3402C>T (p.Arg1134=) c.6342C>T (p.Arg2114=) c.1288C>T c.1515C>T (p.Arg505=) n.1088C>T c.6537C>T (p.Arg2179=) c.6528C>T (p.Arg2176=) c.6519C>T (p.Arg2173=) c.6405C>T (p.Arg2135=) c.4389C>T (p.Arg1463=) c.2079C>T (p.Arg693=) n.6778C>T | |
18 | g.23904590T>A | CA402050369 | LAMA3 | c.1684T>A (p.Cys562Ser) c.6511T>A (p.Cys2171Ser) c.3403T>A (p.Cys1135Ser) c.6343T>A (p.Cys2115Ser) c.1289T>A c.1516T>A (p.Cys506Ser) n.1089T>A c.6538T>A (p.Cys2180Ser) c.6529T>A (p.Cys2177Ser) c.6520T>A (p.Cys2174Ser) c.6406T>A (p.Cys2136Ser) c.4390T>A (p.Cys1464Ser) c.2080T>A (p.Cys694Ser) n.6779T>A | |
18 | g.23904590T>C | CA402050370 | LAMA3 | c.1684T>C (p.Cys562Arg) c.6511T>C (p.Cys2171Arg) c.3403T>C (p.Cys1135Arg) c.6343T>C (p.Cys2115Arg) c.1289T>C c.1516T>C (p.Cys506Arg) n.1089T>C c.6538T>C (p.Cys2180Arg) c.6529T>C (p.Cys2177Arg) c.6520T>C (p.Cys2174Arg) c.6406T>C (p.Cys2136Arg) c.4390T>C (p.Cys1464Arg) c.2080T>C (p.Cys694Arg) n.6779T>C | dbSNP gnomAD v4 |
18 | g.23904590T>G | CA402050371 | LAMA3 | c.1684T>G (p.Cys562Gly) c.6511T>G (p.Cys2171Gly) c.3403T>G (p.Cys1135Gly) c.6343T>G (p.Cys2115Gly) c.1289T>G c.1516T>G (p.Cys506Gly) n.1089T>G c.6538T>G (p.Cys2180Gly) c.6529T>G (p.Cys2177Gly) c.6520T>G (p.Cys2174Gly) c.6406T>G (p.Cys2136Gly) c.4390T>G (p.Cys1464Gly) c.2080T>G (p.Cys694Gly) n.6779T>G | |
18 | g.23904590T= | CA2290324641 | LAMA3 | c.1684T= (p.Cys562=) c.6511T= (p.Cys2171=) c.3403T= (p.Cys1135=) c.6343T= (p.Cys2115=) c.1289T= c.1516T= (p.Cys506=) n.1089T= c.6538T= (p.Cys2180=) c.6529T= (p.Cys2177=) c.6520T= (p.Cys2174=) c.6406T= (p.Cys2136=) c.4390T= (p.Cys1464=) c.2080T= (p.Cys694=) n.6779T= | |
18 | g.23904591G>A | CA402050372 | LAMA3 | c.1685G>A (p.Cys562Tyr) c.6512G>A (p.Cys2171Tyr) c.3404G>A (p.Cys1135Tyr) c.6344G>A (p.Cys2115Tyr) c.1290G>A c.1517G>A (p.Cys506Tyr) n.1090G>A c.6539G>A (p.Cys2180Tyr) c.6530G>A (p.Cys2177Tyr) c.6521G>A (p.Cys2174Tyr) c.6407G>A (p.Cys2136Tyr) c.4391G>A (p.Cys1464Tyr) c.2081G>A (p.Cys694Tyr) n.6780G>A | gnomAD v4 |
18 | g.23904591G>C | CA402050373 | LAMA3 | c.1685G>C (p.Cys562Ser) c.6512G>C (p.Cys2171Ser) c.3404G>C (p.Cys1135Ser) c.6344G>C (p.Cys2115Ser) c.1290G>C c.1517G>C (p.Cys506Ser) n.1090G>C c.6539G>C (p.Cys2180Ser) c.6530G>C (p.Cys2177Ser) c.6521G>C (p.Cys2174Ser) c.6407G>C (p.Cys2136Ser) c.4391G>C (p.Cys1464Ser) c.2081G>C (p.Cys694Ser) n.6780G>C | |
18 | g.23904591G>T | CA402050374 | LAMA3 | c.1685G>T (p.Cys562Phe) c.6512G>T (p.Cys2171Phe) c.3404G>T (p.Cys1135Phe) c.6344G>T (p.Cys2115Phe) c.1290G>T c.1517G>T (p.Cys506Phe) n.1090G>T c.6539G>T (p.Cys2180Phe) c.6530G>T (p.Cys2177Phe) c.6521G>T (p.Cys2174Phe) c.6407G>T (p.Cys2136Phe) c.4391G>T (p.Cys1464Phe) c.2081G>T (p.Cys694Phe) n.6780G>T | |
18 | g.23904592T>A | CA402050375 | LAMA3 | c.1686T>A (p.Cys562Ter) c.6513T>A (p.Cys2171Ter) c.3405T>A (p.Cys1135Ter) c.6345T>A (p.Cys2115Ter) c.1291T>A c.1518T>A (p.Cys506Ter) n.1091T>A c.6540T>A (p.Cys2180Ter) c.6531T>A (p.Cys2177Ter) c.6522T>A (p.Cys2174Ter) c.6408T>A (p.Cys2136Ter) c.4392T>A (p.Cys1464Ter) c.2082T>A (p.Cys694Ter) n.6781T>A | |
18 | g.23904592T>C | CA503336326 | LAMA3 | c.1686T>C (p.Cys562=) c.6513T>C (p.Cys2171=) c.3405T>C (p.Cys1135=) c.6345T>C (p.Cys2115=) c.1291T>C c.1518T>C (p.Cys506=) n.1091T>C c.6540T>C (p.Cys2180=) c.6531T>C (p.Cys2177=) c.6522T>C (p.Cys2174=) c.6408T>C (p.Cys2136=) c.4392T>C (p.Cys1464=) c.2082T>C (p.Cys694=) n.6781T>C | |
18 | g.23904592T>G | CA402050376 | LAMA3 | c.1686T>G (p.Cys562Trp) c.6513T>G (p.Cys2171Trp) c.3405T>G (p.Cys1135Trp) c.6345T>G (p.Cys2115Trp) c.1291T>G c.1518T>G (p.Cys506Trp) n.1091T>G c.6540T>G (p.Cys2180Trp) c.6531T>G (p.Cys2177Trp) c.6522T>G (p.Cys2174Trp) c.6408T>G (p.Cys2136Trp) c.4392T>G (p.Cys1464Trp) c.2082T>G (p.Cys694Trp) n.6781T>G | |
18 | g.23904593G>A | CA402050379 | LAMA3 | c.1687G>A (p.Ala563Thr) c.6514G>A (p.Ala2172Thr) c.3406G>A (p.Ala1136Thr) c.6346G>A (p.Ala2116Thr) c.1292G>A c.1519G>A (p.Ala507Thr) n.1092G>A c.6541G>A (p.Ala2181Thr) c.6532G>A (p.Ala2178Thr) c.6523G>A (p.Ala2175Thr) c.6409G>A (p.Ala2137Thr) c.4393G>A (p.Ala1465Thr) c.2083G>A (p.Ala695Thr) n.6782G>A | |
18 | g.23904593G>C | CA402050377 | LAMA3 | c.1687G>C (p.Ala563Pro) c.6514G>C (p.Ala2172Pro) c.3406G>C (p.Ala1136Pro) c.6346G>C (p.Ala2116Pro) c.1292G>C c.1519G>C (p.Ala507Pro) n.1092G>C c.6541G>C (p.Ala2181Pro) c.6532G>C (p.Ala2178Pro) c.6523G>C (p.Ala2175Pro) c.6409G>C (p.Ala2137Pro) c.4393G>C (p.Ala1465Pro) c.2083G>C (p.Ala695Pro) n.6782G>C | |
18 | g.23904593G>T | CA402050378 | LAMA3 | c.1687G>T (p.Ala563Ser) c.6514G>T (p.Ala2172Ser) c.3406G>T (p.Ala1136Ser) c.6346G>T (p.Ala2116Ser) c.1292G>T c.1519G>T (p.Ala507Ser) n.1092G>T c.6541G>T (p.Ala2181Ser) c.6532G>T (p.Ala2178Ser) c.6523G>T (p.Ala2175Ser) c.6409G>T (p.Ala2137Ser) c.4393G>T (p.Ala1465Ser) c.2083G>T (p.Ala695Ser) n.6782G>T | |
18 | g.23904594C>A | CA8916402 | LAMA3 | c.1688C>A (p.Ala563Asp) c.6515C>A (p.Ala2172Asp) c.3407C>A (p.Ala1136Asp) c.6347C>A (p.Ala2116Asp) c.1293C>A c.1520C>A (p.Ala507Asp) n.1093C>A c.6542C>A (p.Ala2181Asp) c.6533C>A (p.Ala2178Asp) c.6524C>A (p.Ala2175Asp) c.6410C>A (p.Ala2137Asp) c.4394C>A (p.Ala1465Asp) c.2084C>A (p.Ala695Asp) n.6783C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23904594C= | CA2290324642 | LAMA3 | c.1688C= (p.Ala563=) c.6515C= (p.Ala2172=) c.3407C= (p.Ala1136=) c.6347C= (p.Ala2116=) c.1293C= c.1520C= (p.Ala507=) n.1093C= c.6542C= (p.Ala2181=) c.6533C= (p.Ala2178=) c.6524C= (p.Ala2175=) c.6410C= (p.Ala2137=) c.4394C= (p.Ala1465=) c.2084C= (p.Ala695=) n.6783C= | |
18 | g.23904594C>G | CA402050380 | LAMA3 | c.1688C>G (p.Ala563Gly) c.6515C>G (p.Ala2172Gly) c.3407C>G (p.Ala1136Gly) c.6347C>G (p.Ala2116Gly) c.1293C>G c.1520C>G (p.Ala507Gly) n.1093C>G c.6542C>G (p.Ala2181Gly) c.6533C>G (p.Ala2178Gly) c.6524C>G (p.Ala2175Gly) c.6410C>G (p.Ala2137Gly) c.4394C>G (p.Ala1465Gly) c.2084C>G (p.Ala695Gly) n.6783C>G | |
18 | g.23904594C>T | CA402050381 | LAMA3 | c.1688C>T (p.Ala563Val) c.6515C>T (p.Ala2172Val) c.3407C>T (p.Ala1136Val) c.6347C>T (p.Ala2116Val) c.1293C>T c.1520C>T (p.Ala507Val) n.1093C>T c.6542C>T (p.Ala2181Val) c.6533C>T (p.Ala2178Val) c.6524C>T (p.Ala2175Val) c.6410C>T (p.Ala2137Val) c.4394C>T (p.Ala1465Val) c.2084C>T (p.Ala695Val) n.6783C>T | gnomAD v4 |
18 | g.23904595T>A | CA503336340 | LAMA3 | c.1689T>A (p.Ala563=) c.6516T>A (p.Ala2172=) c.3408T>A (p.Ala1136=) c.6348T>A (p.Ala2116=) c.1294T>A c.1521T>A (p.Ala507=) n.1094T>A c.6543T>A (p.Ala2181=) c.6534T>A (p.Ala2178=) c.6525T>A (p.Ala2175=) c.6411T>A (p.Ala2137=) c.4395T>A (p.Ala1465=) c.2085T>A (p.Ala695=) n.6784T>A | |
18 | g.23904595T>C | CA8916403 | LAMA3 | c.1689T>C (p.Ala563=) c.6516T>C (p.Ala2172=) c.3408T>C (p.Ala1136=) c.6348T>C (p.Ala2116=) c.1294T>C c.1521T>C (p.Ala507=) n.1094T>C c.6543T>C (p.Ala2181=) c.6534T>C (p.Ala2178=) c.6525T>C (p.Ala2175=) c.6411T>C (p.Ala2137=) c.4395T>C (p.Ala1465=) c.2085T>C (p.Ala695=) n.6784T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23904595T>G | CA503336343 | LAMA3 | c.1689T>G (p.Ala563=) c.6516T>G (p.Ala2172=) c.3408T>G (p.Ala1136=) c.6348T>G (p.Ala2116=) c.1294T>G c.1521T>G (p.Ala507=) n.1094T>G c.6543T>G (p.Ala2181=) c.6534T>G (p.Ala2178=) c.6525T>G (p.Ala2175=) c.6411T>G (p.Ala2137=) c.4395T>G (p.Ala1465=) c.2085T>G (p.Ala695=) n.6784T>G | |
18 | g.23904595T= | CA2290324643 | LAMA3 | c.1689T= (p.Ala563=) c.6516T= (p.Ala2172=) c.3408T= (p.Ala1136=) c.6348T= (p.Ala2116=) c.1294T= c.1521T= (p.Ala507=) n.1094T= c.6543T= (p.Ala2181=) c.6534T= (p.Ala2178=) c.6525T= (p.Ala2175=) c.6411T= (p.Ala2137=) c.4395T= (p.Ala1465=) c.2085T= (p.Ala695=) n.6784T= | |
18 | g.23904596G>A | CA402050382 | LAMA3 | c.1690G>A (p.Val564Met) c.6517G>A (p.Val2173Met) c.3409G>A (p.Val1137Met) c.6349G>A (p.Val2117Met) c.1295G>A c.1522G>A (p.Val508Met) n.1095G>A c.6544G>A (p.Val2182Met) c.6535G>A (p.Val2179Met) c.6526G>A (p.Val2176Met) c.6412G>A (p.Val2138Met) c.4396G>A (p.Val1466Met) c.2086G>A (p.Val696Met) n.6785G>A | gnomAD v4 |