| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77917694C>A | CA340885717 | NEXN | c.156C>A (p.Asp52Glu) c.28-266C>A (n.28-266C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77917694C= | CA1143794913 | NEXN | c.156C= (p.Asp52=) c.28-266C= (n.28-266C=) | |
| 1 | g.77917694C>G | CA340885720 | NEXN | c.156C>G (p.Asp52Glu) c.28-266C>G (n.28-266C>G) | |
| 1 | g.77917694C>T | CA918569 | NEXN | c.156C>T (p.Asp52=) c.28-266C>T (n.28-266C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77917695G>A | CA918570 | NEXN | c.157G>A (p.Glu53Lys) c.28-265G>A (n.28-265G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77917695G>C | CA340885721 | NEXN | c.157G>C (p.Glu53Gln) c.28-265G>C (n.28-265G>C) | |
| 1 | g.77917695G= | CA1143951072 | NEXN | c.157G= (p.Glu53=) c.28-265G= (n.28-265G=) | |
| 1 | g.77917695G>T | CA340885722 | NEXN | c.157G>T (p.Glu53Ter) c.28-265G>T (n.28-265G>T) | |
| 1 | g.77917696A>C | CA340885723 | NEXN | c.158A>C (p.Glu53Ala) c.28-264A>C (n.28-264A>C) | |
| 1 | g.77917696A>G | CA340885724 | NEXN | c.158A>G (p.Glu53Gly) c.28-264A>G (n.28-264A>G) | |
| 1 | g.77917696A>T | CA340885730 | NEXN | c.158A>T (p.Glu53Val) c.28-264A>T (n.28-264A>T) | |
| 1 | g.77917697A>C | CA340885732 | NEXN | c.159A>C (p.Glu53Asp) c.28-263A>C (n.28-263A>C) | |
| 1 | g.77917697A>G | CA418708615 | NEXN | c.159A>G (p.Glu53=) c.28-263A>G (n.28-263A>G) | |
| 1 | g.77917697A>T | CA340885733 | NEXN | c.159A>T (p.Glu53Asp) c.28-263A>T (n.28-263A>T) | |
| 1 | g.77917698A>C | CA340885735 | NEXN | c.160A>C (p.Lys54Gln) c.28-262A>C (n.28-262A>C) | |
| 1 | g.77917698A>G | CA340885736 | NEXN | c.160A>G (p.Lys54Glu) c.28-262A>G (n.28-262A>G) | |
| 1 | g.77917698A>T | CA340885737 | NEXN | c.160A>T (p.Lys54Ter) c.28-262A>T (n.28-262A>T) | |
| 1 | g.77917699A>C | CA340885739 | NEXN | c.161A>C (p.Lys54Thr) c.28-261A>C (n.28-261A>C) | |
| 1 | g.77917699A>G | CA340885742 | NEXN | c.161A>G (p.Lys54Arg) c.28-261A>G (n.28-261A>G) | |
| 1 | g.77917699A>T | CA340885740 | NEXN | c.161A>T (p.Lys54Ile) c.28-261A>T (n.28-261A>T) | |
| 1 | g.77917700A>C | CA340885745 | NEXN | c.162A>C (p.Lys54Asn) c.28-260A>C (n.28-260A>C) | |
| 1 | g.77917700A>G | CA418708622 | NEXN | c.162A>G (p.Lys54=) c.28-260A>G (n.28-260A>G) | |
| 1 | g.77917700A>T | CA340885746 | NEXN | c.162A>T (p.Lys54Asn) c.28-260A>T (n.28-260A>T) | |
| 1 | g.77917701C>A | CA340885747 | NEXN | c.163C>A (p.Gln55Lys) c.28-259C>A (n.28-259C>A) | gnomAD v4 |
| 1 | g.77917701C>G | CA340885752 | NEXN | c.163C>G (p.Gln55Glu) c.28-259C>G (n.28-259C>G) | gnomAD v2 |
| 1 | g.77917701C>T | CA340885750 | NEXN | c.163C>T (p.Gln55Ter) c.28-259C>T (n.28-259C>T) | |
| 1 | g.77917701_77917705delinsCAAAG | CA1177620153 | NEXN | c.163_167delinsCAAAG (p.Gln55=) c.28-259_28-255delinsCAAAG (n.28-259_28-255delinsCAAAG) | |
| 1 | g.77917702A= | CA1177620154 | NEXN | c.164A= (p.Gln55=) c.28-258A= (n.28-258A=) | |
| 1 | g.77917702A>C | CA340885756 | NEXN | c.164A>C (p.Gln55Pro) c.28-258A>C (n.28-258A>C) | |
| 1 | g.77917702A>G | CA918572 | NEXN | c.164A>G (p.Gln55Arg) c.28-258A>G (n.28-258A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77917702A>T | CA340885770 | NEXN | c.164A>T (p.Gln55Leu) c.28-258A>T (n.28-258A>T) | |
| 1 | g.77917702_77917705delinsAAAG | CA1177620155 | NEXN | c.164_167delinsAAAG (p.Gln55=) c.28-258_28-255delinsAAAG (n.28-258_28-255delinsAAAG) | |
| 1 | g.77917704_77917707del | CA918571 | NEXN | c.166_169del (p.Arg56GlufsTer?) c.28-256_28-253del (n.28-256_28-253del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77917702_77917703insT | CA524230650 | NEXN | c.164_165insT (p.Gln55HisfsTer9) c.28-258_28-257insT (n.28-258_28-257insT) | gnomAD v2 |
| 1 | g.77917703A>C | CA340885772 | NEXN | c.165A>C (p.Gln55His) c.28-257A>C (n.28-257A>C) | |
| 1 | g.77917703A>G | CA418708629 | NEXN | c.165A>G (p.Gln55=) c.28-257A>G (n.28-257A>G) | |
| 1 | g.77917703A>T | CA340885778 | NEXN | c.165A>T (p.Gln55His) c.28-257A>T (n.28-257A>T) | |
| 1 | g.77917708_77917710del | CA739076541 | NEXN | c.170_172del (p.Arg57del) c.28-252_28-250del (n.28-252_28-250del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77917704A= | CA1177620156 | NEXN | c.166A= (p.Arg56=) c.28-256A= (n.28-256A=) | |
| 1 | g.77917704A>C | CA418708630 | NEXN | c.166A>C (p.Arg56=) c.28-256A>C (n.28-256A>C) | |
| 1 | g.77917704A>G | CA918573 | NEXN | c.166A>G (p.Arg56Gly) c.28-256A>G (n.28-256A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.77917704A>T | CA340885781 | NEXN | c.166A>T (p.Arg56Ter) c.28-256A>T (n.28-256A>T) | |
| 1 | g.77917705G>A | CA340885788 | NEXN | c.167G>A (p.Arg56Lys) c.28-255G>A (n.28-255G>A) | gnomAD v4 |
| 1 | g.77917705G>C | CA340885790 | NEXN | c.167G>C (p.Arg56Thr) c.28-255G>C (n.28-255G>C) | dbSNP gnomAD v4 |
| 1 | g.77917705G= | CA1177620157 | NEXN | c.167G= (p.Arg56=) c.28-255G= (n.28-255G=) | |
| 1 | g.77917705G>T | CA340885792 | NEXN | c.167G>T (p.Arg56Ile) c.28-255G>T (n.28-255G>T) | |
| 1 | g.77917706A>C | CA340885793 | NEXN | c.168A>C (p.Arg56Ser) c.28-254A>C (n.28-254A>C) | |
| 1 | g.77917706A>G | CA418708634 | NEXN | c.168A>G (p.Arg56=) c.28-254A>G (n.28-254A>G) | gnomAD v4 |
| 1 | g.77917706A>T | CA340885795 | NEXN | c.168A>T (p.Arg56Ser) c.28-254A>T (n.28-254A>T) | |
| 1 | g.77917707A= | CA1177620158 | NEXN | c.169A= (p.Arg57=) c.28-253A= (n.28-253A=) |