1 | g.183243166_183243173del | CA1009905664 | LAMC2 | c.3348_3355del (p.Asp1116GlufsTer?)
| gnomAD v3 gnomAD v4 |
1 | g.183243166_183243175delinsTGAAGAGGGG | CA1211825272 | LAMC2 | c.3348_3357delinsTGAAGAGGGG (p.Asp1116=)
| |
1 | g.183243167_183243175del | CA527612839 | LAMC2 | c.3349_3357del (p.Glu1117_Gly1119del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243171_183243172delinsAG | CA1211825274 | LAMC2 | c.3353_3354delinsAG (p.Glu1118=)
| |
1 | g.183243172G>A | CA1283242 | LAMC2 | c.3354G>A (p.Glu1118=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243172G>C | CA343662503 | LAMC2 | c.3354G>C (p.Glu1118Asp)
| |
1 | g.183243172G= | CA1142319727 | LAMC2 | c.3354G= (p.Glu1118=)
| |
1 | g.183243172G>T | CA343662500 | LAMC2 | c.3354G>T (p.Glu1118Asp)
| |
1 | g.183243175del | CA16040686 | LAMC2 | c.3357del (p.Leu1120TrpfsTer22)
| ClinVar dbSNP |
1 | g.183243173G>A | CA343662505 | LAMC2 | c.3355G>A (p.Gly1119Arg)
| |
1 | g.183243173G>C | CA343662506 | LAMC2 | c.3355G>C (p.Gly1119Arg)
| |
1 | g.183243173G= | CA1211825275 | LAMC2 | c.3355G= (p.Gly1119=)
| |
1 | g.183243173G>T | CA343662507 | LAMC2 | c.3355G>T (p.Gly1119Trp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.183243173_183243174insTC | CA2649468387 | LAMC2 | c.3355_3356insTC (p.Gly1119ValfsTer24)
| gnomAD v4 |
1 | g.183243174G>A | CA343662510 | LAMC2 | c.3356G>A (p.Gly1119Glu)
| |
1 | g.183243174G>C | CA343662513 | LAMC2 | c.3356G>C (p.Gly1119Ala)
| |
1 | g.183243174G>T | CA343662516 | LAMC2 | c.3356G>T (p.Gly1119Val)
| |
1 | g.183243174_183243175insC | CA1009905716 | LAMC2 | c.3356_3357insC (p.Leu1120AlafsTer?)
| gnomAD v3 gnomAD v4 |
1 | g.183243175G>A | CA422113106 | LAMC2 | c.3357G>A (p.Gly1119=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243175G>C | CA422113105 | LAMC2 | c.3357G>C (p.Gly1119=)
| |
1 | g.183243175G= | CA1211825276 | LAMC2 | c.3357G= (p.Gly1119=)
| |
1 | g.183243175G>T | CA422113104 | LAMC2 | c.3357G>T (p.Gly1119=)
| dbSNP |
1 | g.183243176C>A | CA343662522 | LAMC2 | c.3358C>A (p.Leu1120Met)
| |
1 | g.183243176C= | CA1211825277 | LAMC2 | c.3358C= (p.Leu1120=)
| |
1 | g.183243176C>G | CA343662519 | LAMC2 | c.3358C>G (p.Leu1120Val)
| |
1 | g.183243176C>T | CA422113107 | LAMC2 | c.3358C>T (p.Leu1120=)
| |
1 | g.183243177T>A | CA343662524 | LAMC2 | c.3359T>A (p.Leu1120Gln)
| |
1 | g.183243177T>C | CA343662527 | LAMC2 | c.3359T>C (p.Leu1120Pro)
| gnomAD v3 gnomAD v4 |
1 | g.183243177T>G | CA343662529 | LAMC2 | c.3359T>G (p.Leu1120Arg)
| |
1 | g.183243177_183243178insCGGT | CA527612855 | LAMC2 | c.3359_3360insCGGT (p.Val1121GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243177_183243178insC | CA1009905723 | LAMC2 | c.3359_3360insC (p.Val1121GlyfsTer?)
| gnomAD v3 gnomAD v4 |
1 | g.183243178G>A | CA422113108 | LAMC2 | c.3360G>A (p.Leu1120=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.183243178G>C | CA422113109 | LAMC2 | c.3360G>C (p.Leu1120=)
| COSMIC |
1 | g.183243178G= | CA1211825278 | LAMC2 | c.3360G= (p.Leu1120=)
| |
1 | g.183243178G>T | CA422113110 | LAMC2 | c.3360G>T (p.Leu1120=)
| dbSNP |
1 | g.183243179G>A | CA343662532 | LAMC2 | c.3361G>A (p.Val1121Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.183243179G>C | CA343662535 | LAMC2 | c.3361G>C (p.Val1121Leu)
| |
1 | g.183243179G>T | CA343662537 | LAMC2 | c.3361G>T (p.Val1121Phe)
| |
1 | g.183243180T>A | CA343662538 | LAMC2 | c.3362T>A (p.Val1121Asp)
| |
1 | g.183243180T>C | CA343662542 | LAMC2 | c.3362T>C (p.Val1121Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243180T>G | CA343662541 | LAMC2 | c.3362T>G (p.Val1121Gly)
| gnomAD v4 |
1 | g.183243180T= | CA1211825279 | LAMC2 | c.3362T= (p.Val1121=)
| |
1 | g.183243180_183243181insGGTCGCCGTATC | CA1009905729 | LAMC2 | c.3362_3363insGGTCGCCGTATC (p.Val1121_Leu1122insValAlaValSer)
| gnomAD v3 gnomAD v4 |
1 | g.183243181C>A | CA422113112 | LAMC2 | c.3363C>A (p.Val1121=)
| |
1 | g.183243181C= | CA1211825280 | LAMC2 | c.3363C= (p.Val1121=)
| |
1 | g.183243181C>G | CA422113113 | LAMC2 | c.3363C>G (p.Val1121=)
| ClinVar COSMIC |
1 | g.183243181C>T | CA1283243 | LAMC2 | c.3363C>T (p.Val1121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183243181_183243182insA | CA1009905768 | LAMC2 | c.3363_3364insA (p.Leu1122IlefsTer?)
| gnomAD v3 gnomAD v4 |
1 | g.183243181_183243182insGCCGCA | CA1009905767 | LAMC2 | c.3363_3364insGCCGCA (p.Val1121_Leu1122insAlaAla)
| gnomAD v3 gnomAD v4 |
1 | g.183243181_183243182insGCCGTA | CA1009905732 | LAMC2 | c.3363_3364insGCCGTA (p.Val1121_Leu1122insAlaVal)
| gnomAD v3 gnomAD v4 |