| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103189761G>A | CA382253887 | DYNC2H1 | c.7382G>A (p.Gly2461Asp) c.*4927G>A (n.*4927G>A) c.2205+55342G>A (n.2205+55342G>A) c.6764G>A (p.Gly2255Asp) | dbSNP |
| 11 | g.103189761G>C | CA382253886 | DYNC2H1 | c.7382G>C (p.Gly2461Ala) c.*4927G>C (n.*4927G>C) c.2205+55342G>C (n.2205+55342G>C) c.6764G>C (p.Gly2255Ala) | |
| 11 | g.103189761G= | CA1996420743 | DYNC2H1 | c.7382G= (p.Gly2461=) c.*4927G= (n.*4927G=) c.2205+55342G= (n.2205+55342G=) c.6764G= (p.Gly2255=) | |
| 11 | g.103189761G>T | CA210516 | DYNC2H1 | c.7382G>T (p.Gly2461Val) c.*4927G>T (n.*4927G>T) c.2205+55342G>T (n.2205+55342G>T) c.6764G>T (p.Gly2255Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103189762T>A | CA476610432 | DYNC2H1 | c.7383T>A (p.Gly2461=) c.*4928T>A (n.*4928T>A) c.2205+55343T>A (n.2205+55343T>A) c.6765T>A (p.Gly2255=) | |
| 11 | g.103189762T>C | CA476610435 | DYNC2H1 | c.7383T>C (p.Gly2461=) c.*4928T>C (n.*4928T>C) c.2205+55343T>C (n.2205+55343T>C) c.6765T>C (p.Gly2255=) | |
| 11 | g.103189762T>G | CA476610434 | DYNC2H1 | c.7383T>G (p.Gly2461=) c.*4928T>G (n.*4928T>G) c.2205+55343T>G (n.2205+55343T>G) c.6765T>G (p.Gly2255=) | |
| 11 | g.103189763T>A | CA382253888 | DYNC2H1 | c.7384T>A (p.Ser2462Thr) c.*4929T>A (n.*4929T>A) c.2205+55344T>A (n.2205+55344T>A) c.6766T>A (p.Ser2256Thr) | |
| 11 | g.103189763T>C | CA382253890 | DYNC2H1 | c.7384T>C (p.Ser2462Pro) c.*4929T>C (n.*4929T>C) c.2205+55344T>C (n.2205+55344T>C) c.6766T>C (p.Ser2256Pro) | |
| 11 | g.103189763T>G | CA382253889 | DYNC2H1 | c.7384T>G (p.Ser2462Ala) c.*4929T>G (n.*4929T>G) c.2205+55344T>G (n.2205+55344T>G) c.6766T>G (p.Ser2256Ala) | |
| 11 | g.103189764C>A | CA382253891 | DYNC2H1 | c.7385C>A (p.Ser2462Tyr) c.*4930C>A (n.*4930C>A) c.2205+55345C>A (n.2205+55345C>A) c.6767C>A (p.Ser2256Tyr) | COSMIC |
| 11 | g.103189764C= | CA1996420744 | DYNC2H1 | c.7385C= (p.Ser2462=) c.*4930C= (n.*4930C=) c.2205+55345C= (n.2205+55345C=) c.6767C= (p.Ser2256=) | |
| 11 | g.103189764C>G | CA382253892 | DYNC2H1 | c.7385C>G (p.Ser2462Cys) c.*4930C>G (n.*4930C>G) c.2205+55345C>G (n.2205+55345C>G) c.6767C>G (p.Ser2256Cys) | |
| 11 | g.103189764C>T | CA6254225 | DYNC2H1 | c.7385C>T (p.Ser2462Phe) c.*4930C>T (n.*4930C>T) c.2205+55345C>T (n.2205+55345C>T) c.6767C>T (p.Ser2256Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103189765T>A | CA476610438 | DYNC2H1 | c.7386T>A (p.Ser2462=) c.*4931T>A (n.*4931T>A) c.2205+55346T>A (n.2205+55346T>A) c.6768T>A (p.Ser2256=) | |
| 11 | g.103189765T>C | CA476610439 | DYNC2H1 | c.7386T>C (p.Ser2462=) c.*4931T>C (n.*4931T>C) c.2205+55346T>C (n.2205+55346T>C) c.6768T>C (p.Ser2256=) | |
| 11 | g.103189765T>G | CA476610440 | DYNC2H1 | c.7386T>G (p.Ser2462=) c.*4931T>G (n.*4931T>G) c.2205+55346T>G (n.2205+55346T>G) c.6768T>G (p.Ser2256=) | |
| 11 | g.103189766T>A | CA382253893 | DYNC2H1 | c.7387T>A (p.Ser2463Thr) c.*4932T>A (n.*4932T>A) c.2205+55347T>A (n.2205+55347T>A) c.6769T>A (p.Ser2257Thr) | |
| 11 | g.103189766T>C | CA382253894 | DYNC2H1 | c.7387T>C (p.Ser2463Pro) c.*4932T>C (n.*4932T>C) c.2205+55347T>C (n.2205+55347T>C) c.6769T>C (p.Ser2257Pro) | |
| 11 | g.103189766T>G | CA382253895 | DYNC2H1 | c.7387T>G (p.Ser2463Ala) c.*4932T>G (n.*4932T>G) c.2205+55347T>G (n.2205+55347T>G) c.6769T>G (p.Ser2257Ala) | |
| 11 | g.103189767C>A | CA382253896 | DYNC2H1 | c.7388C>A (p.Ser2463Ter) c.*4933C>A (n.*4933C>A) c.2205+55348C>A (n.2205+55348C>A) c.6770C>A (p.Ser2257Ter) | |
| 11 | g.103189767C>G | CA382253897 | DYNC2H1 | c.7388C>G (p.Ser2463Ter) c.*4933C>G (n.*4933C>G) c.2205+55348C>G (n.2205+55348C>G) c.6770C>G (p.Ser2257Ter) | |
| 11 | g.103189767C>T | CA382253898 | DYNC2H1 | c.7388C>T (p.Ser2463Leu) c.*4933C>T (n.*4933C>T) c.2205+55348C>T (n.2205+55348C>T) c.6770C>T (p.Ser2257Leu) | gnomAD v4 |
| 11 | g.103189768A>C | CA476610444 | DYNC2H1 | c.7389A>C (p.Ser2463=) c.*4934A>C (n.*4934A>C) c.2205+55349A>C (n.2205+55349A>C) c.6771A>C (p.Ser2257=) | |
| 11 | g.103189768A>G | CA476610445 | DYNC2H1 | c.7389A>G (p.Ser2463=) c.*4934A>G (n.*4934A>G) c.2205+55349A>G (n.2205+55349A>G) c.6771A>G (p.Ser2257=) | |
| 11 | g.103189768A>T | CA476610446 | DYNC2H1 | c.7389A>T (p.Ser2463=) c.*4934A>T (n.*4934A>T) c.2205+55349A>T (n.2205+55349A>T) c.6771A>T (p.Ser2257=) | gnomAD v4 |
| 11 | g.103189769T>A | CA382253899 | DYNC2H1 | c.7390T>A (p.Ser2464Thr) c.*4935T>A (n.*4935T>A) c.2205+55350T>A (n.2205+55350T>A) c.6772T>A (p.Ser2258Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103189769T>C | CA382253900 | DYNC2H1 | c.7390T>C (p.Ser2464Pro) c.*4935T>C (n.*4935T>C) c.2205+55350T>C (n.2205+55350T>C) c.6772T>C (p.Ser2258Pro) | |
| 11 | g.103189769T>G | CA382253901 | DYNC2H1 | c.7390T>G (p.Ser2464Ala) c.*4935T>G (n.*4935T>G) c.2205+55350T>G (n.2205+55350T>G) c.6772T>G (p.Ser2258Ala) | |
| 11 | g.103189769T= | CA1996420745 | DYNC2H1 | c.7390T= (p.Ser2464=) c.*4935T= (n.*4935T=) c.2205+55350T= (n.2205+55350T=) c.6772T= (p.Ser2258=) | |
| 11 | g.103189770C>A | CA382253904 | DYNC2H1 | c.7391C>A (p.Ser2464Ter) c.*4936C>A (n.*4936C>A) c.2205+55351C>A (n.2205+55351C>A) c.6773C>A (p.Ser2258Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.103189770C= | CA1996420746 | DYNC2H1 | c.7391C= (p.Ser2464=) c.*4936C= (n.*4936C=) c.2205+55351C= (n.2205+55351C=) c.6773C= (p.Ser2258=) | |
| 11 | g.103189770C>G | CA382253902 | DYNC2H1 | c.7391C>G (p.Ser2464Ter) c.*4936C>G (n.*4936C>G) c.2205+55351C>G (n.2205+55351C>G) c.6773C>G (p.Ser2258Ter) | |
| 11 | g.103189770C>T | CA382253903 | DYNC2H1 | c.7391C>T (p.Ser2464Leu) c.*4936C>T (n.*4936C>T) c.2205+55351C>T (n.2205+55351C>T) c.6773C>T (p.Ser2258Leu) | gnomAD v4 |
| 11 | g.103189771A>C | CA476610451 | DYNC2H1 | c.7392A>C (p.Ser2464=) c.*4937A>C (n.*4937A>C) c.2205+55352A>C (n.2205+55352A>C) c.6774A>C (p.Ser2258=) | COSMIC |
| 11 | g.103189771A>G | CA476610452 | DYNC2H1 | c.7392A>G (p.Ser2464=) c.*4937A>G (n.*4937A>G) c.2205+55352A>G (n.2205+55352A>G) c.6774A>G (p.Ser2258=) | |
| 11 | g.103189771A>T | CA476610453 | DYNC2H1 | c.7392A>T (p.Ser2464=) c.*4937A>T (n.*4937A>T) c.2205+55352A>T (n.2205+55352A>T) c.6774A>T (p.Ser2258=) | |
| 11 | g.103189772A>C | CA382253905 | DYNC2H1 | c.7393A>C (p.Lys2465Gln) c.*4938A>C (n.*4938A>C) c.2205+55353A>C (n.2205+55353A>C) c.6775A>C (p.Lys2259Gln) | gnomAD v4 |
| 11 | g.103189772A>G | CA382253906 | DYNC2H1 | c.7393A>G (p.Lys2465Glu) c.*4938A>G (n.*4938A>G) c.2205+55353A>G (n.2205+55353A>G) c.6775A>G (p.Lys2259Glu) | |
| 11 | g.103189772A>T | CA382253907 | DYNC2H1 | c.7393A>T (p.Lys2465Ter) c.*4938A>T (n.*4938A>T) c.2205+55353A>T (n.2205+55353A>T) c.6775A>T (p.Lys2259Ter) | |
| 11 | g.103189773A>C | CA382253908 | DYNC2H1 | c.7394A>C (p.Lys2465Thr) c.*4939A>C (n.*4939A>C) c.2205+55354A>C (n.2205+55354A>C) c.6776A>C (p.Lys2259Thr) | |
| 11 | g.103189773A>G | CA382253909 | DYNC2H1 | c.7394A>G (p.Lys2465Arg) c.*4939A>G (n.*4939A>G) c.2205+55354A>G (n.2205+55354A>G) c.6776A>G (p.Lys2259Arg) | |
| 11 | g.103189773A>T | CA382253910 | DYNC2H1 | c.7394A>T (p.Lys2465Ile) c.*4939A>T (n.*4939A>T) c.2205+55354A>T (n.2205+55354A>T) c.6776A>T (p.Lys2259Ile) | |
| 11 | g.103189774A>C | CA382253911 | DYNC2H1 | c.7395A>C (p.Lys2465Asn) c.*4940A>C (n.*4940A>C) c.2205+55355A>C (n.2205+55355A>C) c.6777A>C (p.Lys2259Asn) | |
| 11 | g.103189774A>G | CA476610455 | DYNC2H1 | c.7395A>G (p.Lys2465=) c.*4940A>G (n.*4940A>G) c.2205+55355A>G (n.2205+55355A>G) c.6777A>G (p.Lys2259=) | |
| 11 | g.103189774A>T | CA382253912 | DYNC2H1 | c.7395A>T (p.Lys2465Asn) c.*4940A>T (n.*4940A>T) c.2205+55355A>T (n.2205+55355A>T) c.6777A>T (p.Lys2259Asn) | |
| 11 | g.103189775A>C | CA382253913 | DYNC2H1 | c.7396A>C (p.Ile2466Leu) c.*4941A>C (n.*4941A>C) c.2205+55356A>C (n.2205+55356A>C) c.6778A>C (p.Ile2260Leu) | |
| 11 | g.103189775A>G | CA382253914 | DYNC2H1 | c.7396A>G (p.Ile2466Val) c.*4941A>G (n.*4941A>G) c.2205+55356A>G (n.2205+55356A>G) c.6778A>G (p.Ile2260Val) | |
| 11 | g.103189775A>T | CA382253915 | DYNC2H1 | c.7396A>T (p.Ile2466Phe) c.*4941A>T (n.*4941A>T) c.2205+55356A>T (n.2205+55356A>T) c.6778A>T (p.Ile2260Phe) | |
| 11 | g.103189776T>A | CA382253918 | DYNC2H1 | c.7397T>A (p.Ile2466Asn) c.*4942T>A (n.*4942T>A) c.2205+55357T>A (n.2205+55357T>A) c.6779T>A (p.Ile2260Asn) |