| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956452G>A | CA217568 | NEFL | c.64C>T (p.Pro22Ser) n.270C>T | ClinVar dbSNP |
| 8 | g.24956452G>C | CA370624145 | NEFL | c.64C>G (p.Pro22Ala) n.270C>G | ClinVar dbSNP |
| 8 | g.24956452G= | CA1771621616 | NEFL | c.64C= (p.Pro22=) n.270C= | |
| 8 | g.24956452G>T | CA217565 | NEFL | c.64C>A (p.Pro22Thr) n.270C>A | ClinVar dbSNP |
| 8 | g.24956452_24956454delinsAAA | CA2573142647 | NEFL | c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) n.268_270delinsTTT | ClinVar dbSNP |
| 8 | g.24956453C>A | CA460020832 | NEFL | c.63G>T (p.Thr21=) n.269G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956453C= | CA1771621625 | NEFL | c.63G= (p.Thr21=) n.269G= | |
| 8 | g.24956453C>G | CA460020833 | NEFL | c.63G>C (p.Thr21=) n.269G>C | |
| 8 | g.24956453C>T | CA460020834 | NEFL | c.63G>A (p.Thr21=) n.269G>A | gnomAD v4 |
| 8 | g.24956454G>A | CA370624148 | NEFL | c.62C>T (p.Thr21Met) n.268C>T | gnomAD v4 |
| 8 | g.24956454G>C | CA370624149 | NEFL | c.62C>G (p.Thr21Arg) n.268C>G | |
| 8 | g.24956454G>T | CA370624150 | NEFL | c.62C>A (p.Thr21Lys) n.268C>A | gnomAD v4 |
| 8 | g.24956455T>A | CA370624152 | NEFL | c.61A>T (p.Thr21Ser) n.267A>T | |
| 8 | g.24956455T>C | CA370624154 | NEFL | c.61A>G (p.Thr21Ala) n.267A>G | |
| 8 | g.24956455T>G | CA370624155 | NEFL | c.61A>C (p.Thr21Pro) n.267A>C | |
| 8 | g.24956455T= | CA1771621630 | NEFL | c.61A= (p.Thr21=) n.267A= | |
| 8 | g.24956456C>A | CA370624160 | NEFL | c.60G>T (p.Glu20Asp) n.266G>T | gnomAD v4 |
| 8 | g.24956456C>G | CA370624158 | NEFL | c.60G>C (p.Glu20Asp) n.266G>C | dbSNP |
| 8 | g.24956456C>T | CA460020835 | NEFL | c.60G>A (p.Glu20=) n.266G>A | gnomAD v4 |
| 8 | g.24956457_24956469dup | CA217561 | NEFL | c.48_60dup (p.Thr21AlafsTer?) n.254_266dup | ClinVar dbSNP |
| 8 | g.24956457T>A | CA370624163 | NEFL | c.59A>T (p.Glu20Val) n.265A>T | |
| 8 | g.24956457T>C | CA370624165 | NEFL | c.59A>G (p.Glu20Gly) n.265A>G | |
| 8 | g.24956457T>G | CA370624166 | NEFL | c.59A>C (p.Glu20Ala) n.265A>C | dbSNP |
| 8 | g.24956457T= | CA1771621640 | NEFL | c.59A= (p.Glu20=) n.265A= | |
| 8 | g.24956458C>A | CA370624168 | NEFL | c.58G>T (p.Glu20Ter) n.264G>T | |
| 8 | g.24956458C= | CA1771621648 | NEFL | c.58G= (p.Glu20=) n.264G= | |
| 8 | g.24956458C>G | CA4681559 | NEFL | c.58G>C (p.Glu20Gln) n.264G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956458C>T | CA370624170 | NEFL | c.58G>A (p.Glu20Lys) n.264G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956459C>A | CA460020836 | NEFL | c.57G>T (p.Val19=) n.263G>T | |
| 8 | g.24956459C>G | CA460020837 | NEFL | c.57G>C (p.Val19=) n.263G>C | |
| 8 | g.24956459C>T | CA460020838 | NEFL | c.57G>A (p.Val19=) n.263G>A | |
| 8 | g.24956460A= | CA1771621653 | NEFL | c.56T= (p.Val19=) n.262T= | |
| 8 | g.24956460A>C | CA370624172 | NEFL | c.56T>G (p.Val19Gly) n.262T>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956460A>G | CA370624173 | NEFL | c.56T>C (p.Val19Ala) n.262T>C | |
| 8 | g.24956460A>T | CA370624175 | NEFL | c.56T>A (p.Val19Glu) n.262T>A | gnomAD v4 |
| 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 | 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 |