UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.103189785T>A | CA382253935 | DYNC2H1 | c.7406T>A (p.Leu2469Ter) c.*4951T>A (n.*4951T>A) c.2205+55366T>A (n.2205+55366T>A) c.6788T>A (p.Leu2263Ter) | |
| 11 | g.103189785T>C | CA382253936 | DYNC2H1 | c.7406T>C (p.Leu2469Ser) c.*4951T>C (n.*4951T>C) c.2205+55366T>C (n.2205+55366T>C) c.6788T>C (p.Leu2263Ser) | gnomAD v4 |
| 11 | g.103189785T>G | CA382253937 | DYNC2H1 | c.7406T>G (p.Leu2469Ter) c.*4951T>G (n.*4951T>G) c.2205+55366T>G (n.2205+55366T>G) c.6788T>G (p.Leu2263Ter) | |
| 11 | g.103189786A>C | CA382253939 | DYNC2H1 | c.7407A>C (p.Leu2469Phe) c.*4952A>C (n.*4952A>C) c.2205+55367A>C (n.2205+55367A>C) c.6789A>C (p.Leu2263Phe) | |
| 11 | g.103189786A>G | CA476610463 | DYNC2H1 | c.7407A>G (p.Leu2469=) c.*4952A>G (n.*4952A>G) c.2205+55367A>G (n.2205+55367A>G) c.6789A>G (p.Leu2263=) | |
| 11 | g.103189786A>T | CA382253938 | DYNC2H1 | c.7407A>T (p.Leu2469Phe) c.*4952A>T (n.*4952A>T) c.2205+55367A>T (n.2205+55367A>T) c.6789A>T (p.Leu2263Phe) | |
| 11 | g.103189787G>A | CA382253940 | DYNC2H1 | c.7408G>A (p.Ala2470Thr) c.*4953G>A (n.*4953G>A) c.2205+55368G>A (n.2205+55368G>A) c.6790G>A (p.Ala2264Thr) | |
| 11 | g.103189787G>C | CA382253941 | DYNC2H1 | c.7408G>C (p.Ala2470Pro) c.*4953G>C (n.*4953G>C) c.2205+55368G>C (n.2205+55368G>C) c.6790G>C (p.Ala2264Pro) | |
| 11 | g.103189787G>T | CA382253942 | DYNC2H1 | c.7408G>T (p.Ala2470Ser) c.*4953G>T (n.*4953G>T) c.2205+55368G>T (n.2205+55368G>T) c.6790G>T (p.Ala2264Ser) | |
| 11 | g.103189788C>A | CA382253943 | DYNC2H1 | c.7409C>A (p.Ala2470Glu) c.*4954C>A (n.*4954C>A) c.2205+55369C>A (n.2205+55369C>A) c.6791C>A (p.Ala2264Glu) | |
| 11 | g.103189788C= | CA1996420750 | DYNC2H1 | c.7409C= (p.Ala2470=) c.*4954C= (n.*4954C=) c.2205+55369C= (n.2205+55369C=) c.6791C= (p.Ala2264=) | |
| 11 | g.103189788C>G | CA382253944 | DYNC2H1 | c.7409C>G (p.Ala2470Gly) c.*4954C>G (n.*4954C>G) c.2205+55369C>G (n.2205+55369C>G) c.6791C>G (p.Ala2264Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103189788C>T | CA382253945 | DYNC2H1 | c.7409C>T (p.Ala2470Val) c.*4954C>T (n.*4954C>T) c.2205+55369C>T (n.2205+55369C>T) c.6791C>T (p.Ala2264Val) | gnomAD v4 |
| 11 | g.103189789A>C | CA476610464 | DYNC2H1 | c.7410A>C (p.Ala2470=) c.*4955A>C (n.*4955A>C) c.2205+55370A>C (n.2205+55370A>C) c.6792A>C (p.Ala2264=) | gnomAD v4 |
| 11 | g.103189789A>G | CA476610466 | DYNC2H1 | c.7410A>G (p.Ala2470=) c.*4955A>G (n.*4955A>G) c.2205+55370A>G (n.2205+55370A>G) c.6792A>G (p.Ala2264=) | gnomAD v4 |
| 11 | g.103189789A>T | CA476610465 | DYNC2H1 | c.7410A>T (p.Ala2470=) c.*4955A>T (n.*4955A>T) c.2205+55370A>T (n.2205+55370A>T) c.6792A>T (p.Ala2264=) | |
| 11 | g.103189790G>A | CA382253948 | DYNC2H1 | c.7411G>A (p.Gly2471Arg) c.*4956G>A (n.*4956G>A) c.2205+55371G>A (n.2205+55371G>A) c.6793G>A (p.Gly2265Arg) | gnomAD v4 |
| 11 | g.103189790G>C | CA382253946 | DYNC2H1 | c.7411G>C (p.Gly2471Arg) c.*4956G>C (n.*4956G>C) c.2205+55371G>C (n.2205+55371G>C) c.6793G>C (p.Gly2265Arg) | |
| 11 | g.103189790G= | CA1996420751 | DYNC2H1 | c.7411G= (p.Gly2471=) c.*4956G= (n.*4956G=) c.2205+55371G= (n.2205+55371G=) c.6793G= (p.Gly2265=) |