Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.103189776T>C | CA382253917 | DYNC2H1 | c.7397T>C (p.Ile2466Thr) c.*4942T>C (n.*4942T>C) c.2205+55357T>C (n.2205+55357T>C) c.6779T>C (p.Ile2260Thr) | gnomAD v4 |
11 | g.103189776T>G | CA382253916 | DYNC2H1 | c.7397T>G (p.Ile2466Ser) c.*4942T>G (n.*4942T>G) c.2205+55357T>G (n.2205+55357T>G) c.6779T>G (p.Ile2260Ser) | |
11 | g.103189777T>A | CA476610456 | DYNC2H1 | c.7398T>A (p.Ile2466=) c.*4943T>A (n.*4943T>A) c.2205+55358T>A (n.2205+55358T>A) c.6780T>A (p.Ile2260=) | |
11 | g.103189777T>C | CA476610457 | DYNC2H1 | c.7398T>C (p.Ile2466=) c.*4943T>C (n.*4943T>C) c.2205+55358T>C (n.2205+55358T>C) c.6780T>C (p.Ile2260=) | |
11 | g.103189777T>G | CA382253919 | DYNC2H1 | c.7398T>G (p.Ile2466Met) c.*4943T>G (n.*4943T>G) c.2205+55358T>G (n.2205+55358T>G) c.6780T>G (p.Ile2260Met) | |
11 | g.103189778T>A | CA382253920 | DYNC2H1 | c.7399T>A (p.Tyr2467Asn) c.*4944T>A (n.*4944T>A) c.2205+55359T>A (n.2205+55359T>A) c.6781T>A (p.Tyr2261Asn) | |
11 | g.103189778T>C | CA382253921 | DYNC2H1 | c.7399T>C (p.Tyr2467His) c.*4944T>C (n.*4944T>C) c.2205+55359T>C (n.2205+55359T>C) c.6781T>C (p.Tyr2261His) | |
11 | g.103189778T>G | CA382253922 | DYNC2H1 | c.7399T>G (p.Tyr2467Asp) c.*4944T>G (n.*4944T>G) c.2205+55359T>G (n.2205+55359T>G) c.6781T>G (p.Tyr2261Asp) | |
11 | g.103189779A= | CA1996420747 | DYNC2H1 | c.7400A= (p.Tyr2467=) c.*4945A= (n.*4945A=) c.2205+55360A= (n.2205+55360A=) c.6782A= (p.Tyr2261=) | |
11 | g.103189779A>C | CA382253923 | DYNC2H1 | c.7400A>C (p.Tyr2467Ser) c.*4945A>C (n.*4945A>C) c.2205+55360A>C (n.2205+55360A>C) c.6782A>C (p.Tyr2261Ser) | gnomAD v4 |
11 | g.103189779A>G | CA6254226 | DYNC2H1 | c.7400A>G (p.Tyr2467Cys) c.*4945A>G (n.*4945A>G) c.2205+55360A>G (n.2205+55360A>G) c.6782A>G (p.Tyr2261Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.103189779A>T | CA382253924 | DYNC2H1 | c.7400A>T (p.Tyr2467Phe) c.*4945A>T (n.*4945A>T) c.2205+55360A>T (n.2205+55360A>T) c.6782A>T (p.Tyr2261Phe) | |
11 | g.103189780T>A | CA382253925 | DYNC2H1 | c.7401T>A (p.Tyr2467Ter) c.*4946T>A (n.*4946T>A) c.2205+55361T>A (n.2205+55361T>A) c.6783T>A (p.Tyr2261Ter) | |
11 | g.103189780T>C | CA476610458 | DYNC2H1 | c.7401T>C (p.Tyr2467=) c.*4946T>C (n.*4946T>C) c.2205+55361T>C (n.2205+55361T>C) c.6783T>C (p.Tyr2261=) | |
11 | g.103189780T>G | CA382253926 | DYNC2H1 | c.7401T>G (p.Tyr2467Ter) c.*4946T>G (n.*4946T>G) c.2205+55361T>G (n.2205+55361T>G) c.6783T>G (p.Tyr2261Ter) | |
11 | g.103189781C>A | CA382253927 | DYNC2H1 | c.7402C>A (p.Leu2468Ile) c.*4947C>A (n.*4947C>A) c.2205+55362C>A (n.2205+55362C>A) c.6784C>A (p.Leu2262Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.103189781C= | CA1996420748 | DYNC2H1 | c.7402C= (p.Leu2468=) c.*4947C= (n.*4947C=) c.2205+55362C= (n.2205+55362C=) c.6784C= (p.Leu2262=) | |
11 | g.103189781C>G | CA382253928 | DYNC2H1 | c.7402C>G (p.Leu2468Val) c.*4947C>G (n.*4947C>G) c.2205+55362C>G (n.2205+55362C>G) c.6784C>G (p.Leu2262Val) | ClinVar dbSNP |
11 | g.103189781C>T | CA382253929 | DYNC2H1 | c.7402C>T (p.Leu2468Phe) c.*4947C>T (n.*4947C>T) c.2205+55362C>T (n.2205+55362C>T) c.6784C>T (p.Leu2262Phe) | |
11 | g.103189781_103189782delinsCT | CA1996420749 | DYNC2H1 | c.7402_7403delinsCT (p.Leu2468=) c.*4947_*4948delinsCT (n.*4947_*4948delinsCT) c.2205+55362_2205+55363delinsCT (n.2205+55362_2205+55363delinsCT) c.6784_6785delinsCT (p.Leu2262=) | |
11 | g.103189782T>A | CA382253931 | DYNC2H1 | c.7403T>A (p.Leu2468His) c.*4948T>A (n.*4948T>A) c.2205+55363T>A (n.2205+55363T>A) c.6785T>A (p.Leu2262His) | |
11 | g.103189782T>C | CA382253932 | DYNC2H1 | c.7403T>C (p.Leu2468Pro) c.*4948T>C (n.*4948T>C) c.2205+55363T>C (n.2205+55363T>C) c.6785T>C (p.Leu2262Pro) | gnomAD v4 |
11 | g.103189782T>G | CA382253930 | DYNC2H1 | c.7403T>G (p.Leu2468Arg) c.*4948T>G (n.*4948T>G) c.2205+55363T>G (n.2205+55363T>G) c.6785T>G (p.Leu2262Arg) | |
11 | g.103189785del | CA918956368 | DYNC2H1 | c.7406del (p.Leu2469Ter) c.*4951del (n.*4951del) c.2205+55366del (n.2205+55366del) c.6788del (p.Leu2263Ter) | dbSNP |
11 | g.103189783T>A | CA476610461 | DYNC2H1 | c.7404T>A (p.Leu2468=) c.*4949T>A (n.*4949T>A) c.2205+55364T>A (n.2205+55364T>A) c.6786T>A (p.Leu2262=) | |
11 | g.103189783T>C | CA476610460 | DYNC2H1 | c.7404T>C (p.Leu2468=) c.*4949T>C (n.*4949T>C) c.2205+55364T>C (n.2205+55364T>C) c.6786T>C (p.Leu2262=) | |
11 | g.103189783T>G | CA476610459 | DYNC2H1 | c.7404T>G (p.Leu2468=) c.*4949T>G (n.*4949T>G) c.2205+55364T>G (n.2205+55364T>G) c.6786T>G (p.Leu2262=) | |
11 | g.103189784T>A | CA382253933 | DYNC2H1 | c.7405T>A (p.Leu2469Ile) c.*4950T>A (n.*4950T>A) c.2205+55365T>A (n.2205+55365T>A) c.6787T>A (p.Leu2263Ile) | |
11 | g.103189784T>C | CA476610462 | DYNC2H1 | c.7405T>C (p.Leu2469=) c.*4950T>C (n.*4950T>C) c.2205+55365T>C (n.2205+55365T>C) c.6787T>C (p.Leu2263=) | |
11 | g.103189784T>G | CA382253934 | DYNC2H1 | c.7405T>G (p.Leu2469Val) c.*4950T>G (n.*4950T>G) c.2205+55365T>G (n.2205+55365T>G) c.6787T>G (p.Leu2263Val) |