| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74484420G>A | CA254414 | NPC2 | c.358C>T (p.Pro120Ser) c.158+1909C>T (n.158+1909C>T) c.423C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74484420G>C | CA390532241 | NPC2 | c.358C>G (p.Pro120Ala) c.158+1909C>G (n.158+1909C>G) c.423C>G | |
| 14 | g.74484420G= | CA2147066218 | NPC2 | c.358C= (p.Pro120=) c.158+1909C= (n.158+1909C=) c.423C= | |
| 14 | g.74484420G>T | CA390532242 | NPC2 | c.358C>A (p.Pro120Thr) c.158+1909C>A (n.158+1909C>A) c.423C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.74484421A= | CA2147066219 | NPC2 | c.357T= (p.Tyr119=) c.158+1908T= (n.158+1908T=) c.422T= | |
| 14 | g.74484421A>C | CA390532243 | NPC2 | c.357T>G (p.Tyr119Ter) c.158+1908T>G (n.158+1908T>G) c.422T>G | |
| 14 | g.74484421A>G | CA487218584 | NPC2 | c.357T>C (p.Tyr119=) c.158+1908T>C (n.158+1908T>C) c.422T>C | |
| 14 | g.74484421A>T | CA390532244 | NPC2 | c.357T>A (p.Tyr119Ter) c.158+1908T>A (n.158+1908T>A) c.422T>A | ClinVar dbSNP |
| 14 | g.74484422T>A | CA390532246 | NPC2 | c.356A>T (p.Tyr119Phe) c.158+1907A>T (n.158+1907A>T) c.421A>T | |
| 14 | g.74484422T>C | CA7268144 | NPC2 | c.356A>G (p.Tyr119Cys) c.158+1907A>G (n.158+1907A>G) c.421A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74484422T>G | CA390532245 | NPC2 | c.356A>C (p.Tyr119Ser) c.158+1907A>C (n.158+1907A>C) c.421A>C | |
| 14 | g.74484422T= | CA2147066220 | NPC2 | c.356A= (p.Tyr119=) c.158+1907A= (n.158+1907A=) c.421A= | |
| 14 | g.74484423A>C | CA390532247 | NPC2 | c.355T>G (p.Tyr119Asp) c.158+1906T>G (n.158+1906T>G) c.420T>G | |
| 14 | g.74484423A>G | CA390532248 | NPC2 | c.355T>C (p.Tyr119His) c.158+1906T>C (n.158+1906T>C) c.420T>C | |
| 14 | g.74484423A>T | CA390532249 | NPC2 | c.355T>A (p.Tyr119Asn) c.158+1906T>A (n.158+1906T>A) c.420T>A | |
| 14 | g.74484424T>A | CA390532250 | NPC2 | c.354A>T (p.Glu118Asp) c.158+1905A>T (n.158+1905A>T) c.419A>T | |
| 14 | g.74484424T>C | CA487218595 | NPC2 | c.354A>G (p.Glu118=) c.158+1905A>G (n.158+1905A>G) c.419A>G | |
| 14 | g.74484424T>G | CA390532251 | NPC2 | c.354A>C (p.Glu118Asp) c.158+1905A>C (n.158+1905A>C) c.419A>C | |
| 14 | g.74484425T>A | CA390532252 | NPC2 | c.353A>T (p.Glu118Val) c.158+1904A>T (n.158+1904A>T) c.418A>T | |
| 14 | g.74484425T>C | CA390532253 | NPC2 | c.353A>G (p.Glu118Gly) c.158+1904A>G (n.158+1904A>G) c.418A>G | |
| 14 | g.74484425T>G | CA390532254 | NPC2 | c.353A>C (p.Glu118Ala) c.158+1904A>C (n.158+1904A>C) c.418A>C | |
| 14 | g.74484426C>A | CA340791 | NPC2 | c.352G>T (p.Glu118Ter) c.158+1903G>T (n.158+1903G>T) c.417G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74484426C= | CA2147066221 | NPC2 | c.352G= (p.Glu118=) c.158+1903G= (n.158+1903G=) c.417G= | |
| 14 | g.74484426C>G | CA390532255 | NPC2 | c.352G>C (p.Glu118Gln) c.158+1903G>C (n.158+1903G>C) c.417G>C | |
| 14 | g.74484426C>T | CA7268145 | NPC2 | c.352G>A (p.Glu118Lys) c.158+1903G>A (n.158+1903G>A) c.417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74484427_74484428del | CA2625667200 | NPC2 | c.351_352del (p.Ser117ArgfsTer16) c.351_352del (p.Ser117ArgfsTer?) c.158+1902_158+1903del (n.158+1902_158+1903del) c.416_417del | gnomAD v4 |
| 14 | g.74484427G>A | CA487218601 | NPC2 | c.351C>T (p.Ser117=) c.158+1902C>T (n.158+1902C>T) c.416C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.74484427G>C | CA390532256 | NPC2 | c.351C>G (p.Ser117Arg) c.158+1902C>G (n.158+1902C>G) c.416C>G | |
| 14 | g.74484427G= | CA2147066222 | NPC2 | c.351C= (p.Ser117=) c.158+1902C= (n.158+1902C=) c.416C= | |
| 14 | g.74484427G>T | CA390532257 | NPC2 | c.351C>A (p.Ser117Arg) c.158+1902C>A (n.158+1902C>A) c.416C>A | |
| 14 | g.74484428C>A | CA390532258 | NPC2 | c.350G>T (p.Ser117Ile) c.158+1901G>T (n.158+1901G>T) c.415G>T | |
| 14 | g.74484428C>G | CA390532259 | NPC2 | c.350G>C (p.Ser117Thr) c.158+1901G>C (n.158+1901G>C) c.415G>C | |
| 14 | g.74484428C>T | CA390532260 | NPC2 | c.350G>A (p.Ser117Asn) c.158+1901G>A (n.158+1901G>A) c.415G>A | |
| 14 | g.74484429T>A | CA390532261 | NPC2 | c.349A>T (p.Ser117Cys) c.158+1900A>T (n.158+1900A>T) c.414A>T | |
| 14 | g.74484429T>C | CA390532262 | NPC2 | c.349A>G (p.Ser117Gly) c.158+1900A>G (n.158+1900A>G) c.414A>G | |
| 14 | g.74484429T>G | CA390532263 | NPC2 | c.349A>C (p.Ser117Arg) c.158+1900A>C (n.158+1900A>C) c.414A>C | ClinVar |
| 14 | g.74484430T>A | CA390532264 | NPC2 | c.348A>T (p.Lys116Asn) c.158+1899A>T (n.158+1899A>T) c.413A>T | |
| 14 | g.74484430T>C | CA487218620 | NPC2 | c.348A>G (p.Lys116=) c.158+1899A>G (n.158+1899A>G) c.413A>G | gnomAD v4 |
| 14 | g.74484430T>G | CA390532265 | NPC2 | c.348A>C (p.Lys116Asn) c.158+1899A>C (n.158+1899A>C) c.413A>C | |
| 14 | g.74484431T>A | CA390532266 | NPC2 | c.347A>T (p.Lys116Ile) c.158+1898A>T (n.158+1898A>T) c.412A>T | |
| 14 | g.74484431T>C | CA390532267 | NPC2 | c.347A>G (p.Lys116Arg) c.158+1898A>G (n.158+1898A>G) c.412A>G | |
| 14 | g.74484431T>G | CA390532268 | NPC2 | c.347A>C (p.Lys116Thr) c.158+1898A>C (n.158+1898A>C) c.412A>C | |
| 14 | g.74484432T>A | CA390532271 | NPC2 | c.346A>T (p.Lys116Ter) c.158+1897A>T (n.158+1897A>T) c.411A>T | |
| 14 | g.74484432T>C | CA390532270 | NPC2 | c.346A>G (p.Lys116Glu) c.158+1897A>G (n.158+1897A>G) c.411A>G | |
| 14 | g.74484432T>G | CA390532269 | NPC2 | c.346A>C (p.Lys116Gln) c.158+1897A>C (n.158+1897A>C) c.411A>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74484432T= | CA2147066223 | NPC2 | c.346A= (p.Lys116=) c.158+1897A= (n.158+1897A=) c.411A= | |
| 14 | g.74484433C>A | CA487218636 | NPC2 | c.345G>T (p.Val115=) c.158+1896G>T (n.158+1896G>T) c.410G>T | |
| 14 | g.74484433C>G | CA487218637 | NPC2 | c.345G>C (p.Val115=) c.158+1896G>C (n.158+1896G>C) c.410G>C | |
| 14 | g.74484433C>T | CA487218638 | NPC2 | c.345G>A (p.Val115=) c.158+1896G>A (n.158+1896G>A) c.410G>A | gnomAD v4 |
| 14 | g.74484434A>C | CA390532272 | NPC2 | c.344T>G (p.Val115Gly) c.158+1895T>G (n.158+1895T>G) c.409T>G |