Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.24956457_24956469dup | CA217561 | NEFL | c.48_60dup (p.Thr21AlafsTer?) n.254_266dup | ClinVar dbSNP |
8 | g.24956461C>A | CA370624176 | NEFL | c.55G>T (p.Val19Leu) n.261G>T | |
8 | g.24956461C= | CA1771621659 | NEFL | c.55G= (p.Val19=) n.261G= | |
8 | g.24956461C>G | CA370624178 | NEFL | c.55G>C (p.Val19Leu) n.261G>C | dbSNP gnomAD v4 |
8 | g.24956461C>T | CA370624179 | NEFL | c.55G>A (p.Val19Met) n.261G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.24956462del | CA2716802008 | NEFL | c.54del (p.Tyr18Ter) n.260del | dbSNP |
8 | g.24956462G>A | CA460020840 | NEFL | c.54C>T (p.Tyr18=) n.260C>T | ClinVar dbSNP gnomAD v4 |
8 | g.24956462G>C | CA370624182 | NEFL | c.54C>G (p.Tyr18Ter) n.260C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.24956462G= | CA1771621662 | NEFL | c.54C= (p.Tyr18=) n.260C= | |
8 | g.24956462G>T | CA370624181 | NEFL | c.54C>A (p.Tyr18Ter) n.260C>A | ClinVar dbSNP |
8 | g.24956463T>A | CA370624184 | NEFL | c.53A>T (p.Tyr18Phe) n.259A>T | dbSNP |
8 | g.24956463T>C | CA370624186 | NEFL | c.53A>G (p.Tyr18Cys) n.259A>G | |
8 | g.24956463T>G | CA4681560 | NEFL | c.53A>C (p.Tyr18Ser) n.259A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.24956463T= | CA1771621665 | NEFL | c.53A= (p.Tyr18=) n.259A= | |
8 | g.24956464A= | CA1771621669 | NEFL | c.52T= (p.Tyr18=) n.258T= | |
8 | g.24956464A>C | CA370624187 | NEFL | c.52T>G (p.Tyr18Asp) n.258T>G | |
8 | g.24956464A>G | CA370624189 | NEFL | c.52T>C (p.Tyr18His) n.258T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956464A>T | CA370624190 | NEFL | c.52T>A (p.Tyr18Asn) n.258T>A | |
8 | g.24956465G>A | CA460020846 | NEFL | c.51C>T (p.Arg17=) n.257C>T | |
8 | g.24956465G>C | CA460020845 | NEFL | c.51C>G (p.Arg17=) n.257C>G | |
8 | g.24956465G>T | CA460020844 | NEFL | c.51C>A (p.Arg17=) n.257C>A | gnomAD v4 |
8 | g.24956466C>A | CA370624192 | NEFL | c.50G>T (p.Arg17Leu) n.256G>T | |
8 | g.24956466C>G | CA370624193 | NEFL | c.50G>C (p.Arg17Pro) n.256G>C | |
8 | g.24956466C>T | CA370624195 | NEFL | c.50G>A (p.Arg17His) n.256G>A | gnomAD v4 |
8 | g.24956467G>A | CA370624198 | NEFL | c.49C>T (p.Arg17Cys) n.255C>T | gnomAD v4 |
8 | g.24956467G>C | CA370624196 | NEFL | c.49C>G (p.Arg17Gly) n.255C>G | |
8 | g.24956467G>T | CA370624197 | NEFL | c.49C>A (p.Arg17Ser) n.255C>A | gnomAD v4 |
8 | g.24956468C>A | CA460020848 | NEFL | c.48G>T (p.Arg16=) n.254G>T | gnomAD v4 |
8 | g.24956468C>G | CA460020850 | NEFL | c.48G>C (p.Arg16=) n.254G>C | ClinVar |
8 | g.24956468C>T | CA460020851 | NEFL | c.48G>A (p.Arg16=) n.254G>A | ClinVar dbSNP gnomAD v4 |
8 | g.24956469C>A | CA370624200 | NEFL | c.47G>T (p.Arg16Leu) n.253G>T | gnomAD v4 |
8 | g.24956469C>G | CA370624202 | NEFL | c.47G>C (p.Arg16Pro) n.253G>C | |
8 | g.24956469C>T | CA370624203 | NEFL | c.47G>A (p.Arg16Gln) n.253G>A | gnomAD v4 |
8 | g.24956470G>A | CA370624205 | NEFL | c.46C>T (p.Arg16Trp) n.252C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.24956470G>C | CA370624206 | NEFL | c.46C>G (p.Arg16Gly) n.252C>G | |
8 | g.24956470G= | CA1771621672 | NEFL | c.46C= (p.Arg16=) n.252C= | |
8 | g.24956470G>T | CA460020852 | NEFL | c.46C>A (p.Arg16=) n.252C>A | |
8 | g.24956471C>A | CA370624208 | NEFL | c.45G>T (p.Lys15Asn) n.251G>T | |
8 | g.24956471C= | CA1771621673 | NEFL | c.45G= (p.Lys15=) n.251G= | |
8 | g.24956471C>G | CA370624210 | NEFL | c.45G>C (p.Lys15Asn) n.251G>C | |
8 | g.24956471C>T | CA217558 | NEFL | c.45G>A (p.Lys15=) n.251G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956472T>A | CA370624212 | NEFL | c.44A>T (p.Lys15Met) n.250A>T | |
8 | g.24956472T>C | CA4681561 | NEFL | c.44A>G (p.Lys15Arg) n.250A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956472T>G | CA370624213 | NEFL | c.44A>C (p.Lys15Thr) n.250A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24956472T= | CA1771621682 | NEFL | c.44A= (p.Lys15=) n.250A= | |
8 | g.24956473T>A | CA370624214 | NEFL | c.43A>T (p.Lys15Ter) n.249A>T | |
8 | g.24956473T>C | CA370624215 | NEFL | c.43A>G (p.Lys15Glu) n.249A>G | gnomAD v4 |
8 | g.24956473T>G | CA370624216 | NEFL | c.43A>C (p.Lys15Gln) n.249A>C | |
8 | g.24956474G>A | CA460020853 | NEFL | c.42C>T (p.Tyr14=) n.248C>T | |
8 | g.24956474G>C | CA370624218 | NEFL | c.42C>G (p.Tyr14Ter) n.248C>G |