Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.24956125_24956143delinsCGGAGTGCTTCTGGCGCAG | CA1771659138 | NEFL | c.373_391delinsCTGCGCCAGAAGCACTCCG (p.Leu125=) n.579_597delinsCTGCGCCAGAAGCACTCCG | |
8 | g.24956126_24956143del | CA1771659142 | NEFL | c.373_390del (p.Leu125_Ser130del) n.579_596del | dbSNP |
8 | g.24956134_24956136del | CA1771659162 | NEFL | c.382_384del (p.Lys128del) n.588_590del | dbSNP |
8 | g.24956135C>A | CA370622592 | NEFL | c.381G>T (p.Gln127His) n.587G>T | |
8 | g.24956135C>G | CA370622594 | NEFL | c.381G>C (p.Gln127His) n.587G>C | |
8 | g.24956135C>T | CA460183443 | NEFL | c.381G>A (p.Gln127=) n.587G>A | gnomAD v4 |
8 | g.24956136T>A | CA370622596 | NEFL | c.380A>T (p.Gln127Leu) n.586A>T | |
8 | g.24956136T>C | CA370622599 | NEFL | c.380A>G (p.Gln127Arg) n.586A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.24956136T>G | CA370622598 | NEFL | c.380A>C (p.Gln127Pro) n.586A>C | |
8 | g.24956136T= | CA1771659170 | NEFL | c.380A= (p.Gln127=) n.586A= | |
8 | g.24956137G>A | CA370622600 | NEFL | c.379C>T (p.Gln127Ter) n.585C>T | gnomAD v4 |
8 | g.24956137G>C | CA370622602 | NEFL | c.379C>G (p.Gln127Glu) n.585C>G | |
8 | g.24956137G= | CA1771659174 | NEFL | c.379C= (p.Gln127=) n.585C= | |
8 | g.24956137G>T | CA370622604 | NEFL | c.379C>A (p.Gln127Lys) n.585C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.24956138G>A | CA460183444 | NEFL | c.378C>T (p.Arg126=) n.584C>T | |
8 | g.24956138G>C | CA460183445 | NEFL | c.378C>G (p.Arg126=) n.584C>G | gnomAD v4 |
8 | g.24956138G>T | CA460183446 | NEFL | c.378C>A (p.Arg126=) n.584C>A | |
8 | g.24956139C>A | CA370622605 | NEFL | c.377G>T (p.Arg126Leu) n.583G>T | gnomAD v4 |
8 | g.24956139C= | CA1771659182 | NEFL | c.377G= (p.Arg126=) n.583G= | |
8 | g.24956139C>G | CA370622606 | NEFL | c.377G>C (p.Arg126Pro) n.583G>C | |
8 | g.24956139C>T | CA370622608 | NEFL | c.377G>A (p.Arg126His) n.583G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.24956140G>A | CA370622610 | NEFL | c.376C>T (p.Arg126Cys) n.582C>T | gnomAD v4 |
8 | g.24956140G>C | CA370622612 | NEFL | c.376C>G (p.Arg126Gly) n.582C>G | |
8 | g.24956140G>T | CA370622613 | NEFL | c.376C>A (p.Arg126Ser) n.582C>A | gnomAD v4 |
8 | g.24956141C>A | CA460183447 | NEFL | c.375G>T (p.Leu125=) n.581G>T | |
8 | g.24956141C>G | CA460183448 | NEFL | c.375G>C (p.Leu125=) n.581G>C | |
8 | g.24956141C>T | CA460183449 | NEFL | c.375G>A (p.Leu125=) n.581G>A | gnomAD v4 |
8 | g.24956142A>C | CA370622614 | NEFL | c.374T>G (p.Leu125Arg) n.580T>G | |
8 | g.24956142A>G | CA370622615 | NEFL | c.374T>C (p.Leu125Pro) n.580T>C | |
8 | g.24956142A>T | CA370622617 | NEFL | c.374T>A (p.Leu125Gln) n.580T>A | |
8 | g.24956143G>A | CA460183450 | NEFL | c.373C>T (p.Leu125=) n.579C>T | |
8 | g.24956143G>C | CA370622621 | NEFL | c.373C>G (p.Leu125Val) n.579C>G | |
8 | g.24956143G>T | CA370622619 | NEFL | c.373C>A (p.Leu125Met) n.579C>A | gnomAD v4 |
8 | g.24956144C>A | CA460183451 | NEFL | c.372G>T (p.Val124=) n.578G>T | gnomAD v4 |
8 | g.24956144C= | CA1771659185 | NEFL | c.372G= (p.Val124=) n.578G= | |
8 | g.24956144C>G | CA460183452 | NEFL | c.372G>C (p.Val124=) n.578G>C | |
8 | g.24956144C>T | CA460183453 | NEFL | c.372G>A (p.Val124=) n.578G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956146_24956148dup | CA2580078085 | NEFL | c.370_372dup (p.Val124_Leu125insVal) n.576_578dup | ClinVar |
8 | g.24956145A= | CA1771659186 | NEFL | c.371T= (p.Val124=) n.577T= | |
8 | g.24956145A>C | CA370622622 | NEFL | c.371T>G (p.Val124Gly) n.577T>G | |
8 | g.24956145A>G | CA370622623 | NEFL | c.371T>C (p.Val124Ala) n.577T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956145A>T | CA370622625 | NEFL | c.371T>A (p.Val124Glu) n.577T>A | |
8 | g.24956146C>A | CA370622627 | NEFL | c.370G>T (p.Val124Leu) n.576G>T | |
8 | g.24956146C>G | CA370622628 | NEFL | c.370G>C (p.Val124Leu) n.576G>C | |
8 | g.24956146C>T | CA370622629 | NEFL | c.370G>A (p.Val124Met) n.576G>A | ClinVar |
8 | g.24956146_24956148delinsCCA | CA1771659189 | NEFL | c.368_370delinsTGG (p.Leu123=) n.574_576delinsTGG | |
8 | g.24956147C>A | CA174061349 | NEFL | c.369G>T (p.Leu123=) n.575G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956147C= | CA1771659194 | NEFL | c.369G= (p.Leu123=) n.575G= | |
8 | g.24956147C>G | CA460183454 | NEFL | c.369G>C (p.Leu123=) n.575G>C | |
8 | g.24956147C>T | CA460183455 | NEFL | c.369G>A (p.Leu123=) n.575G>A |