| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.43949624_43949867del | CA2695233465 | NDP | c.336_*177del (n.[c.336_*177del;Gly113ThrfsTer?]) | |
| X | g.43949814C>A | CA413007262 | NDP,NDP-AS1 | c.387G>T (p.Glu129Asp) n.431G>T n.83C>A | |
| X | g.43949814C= | CA2426745239 | NDP,NDP-AS1 | c.387G= (p.Glu129=) n.431G= n.83C= | |
| X | g.43949814C>G | CA413007263 | NDP,NDP-AS1 | c.387G>C (p.Glu129Asp) n.431G>C n.83C>G | |
| X | g.43949814C>T | CA10391401 | NDP,NDP-AS1 | c.387G>A (p.Glu129=) n.431G>A n.83C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.43949815T>A | CA413007264 | NDP,NDP-AS1 | c.386A>T (p.Glu129Val) n.430A>T n.84T>A | |
| X | g.43949815T>C | CA413007265 | NDP,NDP-AS1 | c.386A>G (p.Glu129Gly) n.430A>G n.84T>C | |
| X | g.43949815T>G | CA413007266 | NDP,NDP-AS1 | c.386A>C (p.Glu129Ala) n.430A>C n.84T>G | |
| X | g.43949816C>A | CA413007267 | NDP,NDP-AS1 | c.385G>T (p.Glu129Ter) n.429G>T n.85C>A | gnomAD v4 |
| X | g.43949816C= | CA2426745240 | NDP,NDP-AS1 | c.385G= (p.Glu129=) n.429G= n.85C= | |
| X | g.43949816C>G | CA413007268 | NDP,NDP-AS1 | c.385G>C (p.Glu129Gln) n.429G>C n.85C>G | |
| X | g.43949816C>T | CA10391402 | NDP,NDP-AS1 | c.385G>A (p.Glu129Lys) n.429G>A n.85C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.43949817G>A | CA10391403 | NDP,NDP-AS1 | c.384C>T (p.Cys128=) n.428C>T n.86G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.43949817G>C | CA413007269 | NDP,NDP-AS1 | c.384C>G (p.Cys128Trp) n.428C>G n.86G>C | |
| X | g.43949817G= | CA2426745241 | NDP,NDP-AS1 | c.384C= (p.Cys128=) n.428C= n.86G= | |
| X | g.43949817G>T | CA255473 | NDP,NDP-AS1 | c.384C>A (p.Cys128Ter) n.428C>A n.86G>T | ClinVar dbSNP gnomAD v4 |
| X | g.43949817_43949818delinsTT | CA2695233469 | NDP,NDP-AS1 | c.383_384delinsAA (p.Cys128Ter) n.427_428delinsAA n.86_87delinsTT | |
| X | g.43949818C>A | CA413007270 | NDP,NDP-AS1 | c.383G>T (p.Cys128Phe) n.427G>T n.87C>A | gnomAD v4 |
| X | g.43949818C>G | CA413007272 | NDP,NDP-AS1 | c.383G>C (p.Cys128Ser) n.427G>C n.87C>G | |
| X | g.43949818C>T | CA413007271 | NDP,NDP-AS1 | c.383G>A (p.Cys128Tyr) n.427G>A n.87C>T | |
| X | g.43949819A>C | CA413007273 | NDP,NDP-AS1 | c.382T>G (p.Cys128Gly) n.426T>G n.88A>C | |
| X | g.43949819A>G | CA413007274 | NDP,NDP-AS1 | c.382T>C (p.Cys128Arg) n.426T>C n.88A>G | |
| X | g.43949819A>T | CA413007275 | NDP,NDP-AS1 | c.382T>A (p.Cys128Ser) n.426T>A n.88A>T | |
| X | g.43949820G>A | CA516139363 | NDP,NDP-AS1 | c.381C>T (p.His127=) n.425C>T n.89G>A | |
| X | g.43949820G>C | CA413007276 | NDP,NDP-AS1 | c.381C>G (p.His127Gln) n.425C>G n.89G>C | |
| X | g.43949820G>T | CA413007277 | NDP,NDP-AS1 | c.381C>A (p.His127Gln) n.425C>A n.89G>T | |
| X | g.43949821T>A | CA413007278 | NDP,NDP-AS1 | c.380A>T (p.His127Leu) n.424A>T n.90T>A | |
| X | g.43949821T>C | CA413007279 | NDP,NDP-AS1 | c.380A>G (p.His127Arg) n.424A>G n.90T>C | |
| X | g.43949821T>G | CA413007280 | NDP,NDP-AS1 | c.380A>C (p.His127Pro) n.424A>C n.90T>G | |
| X | g.43949822G>A | CA413007281 | NDP,NDP-AS1 | c.379C>T (p.His127Tyr) n.423C>T n.91G>A | gnomAD v4 |
| X | g.43949822G>C | CA413007282 | NDP,NDP-AS1 | c.379C>G (p.His127Asp) n.423C>G n.91G>C | |
| X | g.43949822G>T | CA413007283 | NDP,NDP-AS1 | c.379C>A (p.His127Asn) n.423C>A n.91G>T | gnomAD v4 |
| X | g.43949823A>C | CA413007284 | NDP,NDP-AS1 | c.378T>G (p.Cys126Trp) n.422T>G n.92A>C | |
| X | g.43949823A>G | CA516139367 | NDP,NDP-AS1 | c.378T>C (p.Cys126=) n.422T>C n.92A>G | gnomAD v4 |
| X | g.43949823A>T | CA413007285 | NDP,NDP-AS1 | c.378T>A (p.Cys126Ter) n.422T>A n.92A>T | dbSNP gnomAD v4 |
| X | g.43949824C>A | CA413007286 | NDP,NDP-AS1 | c.377G>T (p.Cys126Phe) n.421G>T n.93C>A | gnomAD v4 |
| X | g.43949824C>G | CA413007288 | NDP,NDP-AS1 | c.377G>C (p.Cys126Ser) n.421G>C n.93C>G | |
| X | g.43949824C>T | CA413007287 | NDP,NDP-AS1 | c.377G>A (p.Cys126Tyr) n.421G>A n.93C>T | gnomAD v4 |
| X | g.43949825A>C | CA413007289 | NDP,NDP-AS1 | c.376T>G (p.Cys126Gly) n.420T>G n.94A>C | |
| X | g.43949825A>G | CA413007290 | NDP,NDP-AS1 | c.376T>C (p.Cys126Arg) n.420T>C n.94A>G | gnomAD v4 |
| X | g.43949825A>T | CA413007291 | NDP,NDP-AS1 | c.376T>A (p.Cys126Ser) n.420T>A n.94A>T | |
| X | g.43949826G>A | CA516139369 | NDP,NDP-AS1 | c.375C>T (p.Ser125=) n.419C>T n.95G>A | |
| X | g.43949826G>C | CA516139370 | NDP,NDP-AS1 | c.375C>G (p.Ser125=) n.419C>G n.95G>C | |
| X | g.43949826G>T | CA516139371 | NDP,NDP-AS1 | c.375C>A (p.Ser125=) n.419C>A n.95G>T | gnomAD v4 |
| X | g.43949827G>A | CA413007292 | NDP,NDP-AS1 | c.374C>T (p.Ser125Phe) n.418C>T n.96G>A | |
| X | g.43949827G>C | CA413007293 | NDP,NDP-AS1 | c.374C>G (p.Ser125Cys) n.418C>G n.96G>C | |
| X | g.43949827G>T | CA413007294 | NDP,NDP-AS1 | c.374C>A (p.Ser125Tyr) n.418C>A n.96G>T | |
| X | g.43949830_43949831del | CA2579590501 | NDP,NDP-AS1 | c.373_374del (p.Ser125LeufsTer23) n.417_418del n.99_100del | |
| X | g.43949828A>C | CA413007295 | NDP,NDP-AS1 | c.373T>G (p.Ser125Ala) n.417T>G n.97A>C | |
| X | g.43949828A>G | CA413007296 | NDP,NDP-AS1 | c.373T>C (p.Ser125Pro) n.417T>C n.97A>G |