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.103189669_103189677delinsTAGTTACCC | CA1996420716 | DYNC2H1 | c.7293-3_7298delinsTAGTTACCC c.*4838-3_*4843delinsTAGTTACCC c.2205+55250_2205+55258delinsTAGTTACCC (n.2205+55250_2205+55258delinsTAGTTACCC) c.6675-3_6680delinsTAGTTACCC | |
| 11 | g.103189670A>C | CA382253593 | DYNC2H1 | c.7293-2A>C (n.7293-2A>C) c.*4838-2A>C (n.*4838-2A>C) c.2205+55251A>C (n.2205+55251A>C) c.6675-2A>C (n.6675-2A>C) | |
| 11 | g.103189670A>G | CA382253596 | DYNC2H1 | c.7293-2A>G (n.7293-2A>G) c.*4838-2A>G (n.*4838-2A>G) c.2205+55251A>G (n.2205+55251A>G) c.6675-2A>G (n.6675-2A>G) | |
| 11 | g.103189670A>T | CA382253595 | DYNC2H1 | c.7293-2A>T (n.7293-2A>T) c.*4838-2A>T (n.*4838-2A>T) c.2205+55251A>T (n.2205+55251A>T) c.6675-2A>T (n.6675-2A>T) | |
| 11 | g.103189672_103189679del | CA1139662210 | DYNC2H1 | c.7293_7300del c.*4838_*4845del c.2205+55253_2205+55260del (n.2205+55253_2205+55260del) c.6675_6682del | ClinVar dbSNP |
| 11 | g.103189671G>A | CA382253599 | DYNC2H1 | c.7293-1G>A (n.7293-1G>A) c.*4838-1G>A (n.*4838-1G>A) c.2205+55252G>A (n.2205+55252G>A) c.6675-1G>A (n.6675-1G>A) | |
| 11 | g.103189671G>C | CA382253600 | DYNC2H1 | c.7293-1G>C (n.7293-1G>C) c.*4838-1G>C (n.*4838-1G>C) c.2205+55252G>C (n.2205+55252G>C) c.6675-1G>C (n.6675-1G>C) | |
| 11 | g.103189671G>T | CA382253601 | DYNC2H1 | c.7293-1G>T (n.7293-1G>T) c.*4838-1G>T (n.*4838-1G>T) c.2205+55252G>T (n.2205+55252G>T) c.6675-1G>T (n.6675-1G>T) | |
| 11 | g.103189672T>A | CA382253603 | DYNC2H1 | c.7293T>A (p.Asp2431Glu) c.*4838T>A (n.*4838T>A) c.2205+55253T>A (n.2205+55253T>A) c.6675T>A (p.Asp2225Glu) | |
| 11 | g.103189672T>C | CA476610315 | DYNC2H1 | c.7293T>C (p.Asp2431=) c.*4838T>C (n.*4838T>C) c.2205+55253T>C (n.2205+55253T>C) c.6675T>C (p.Asp2225=) | |
| 11 | g.103189672T>G | CA382253605 | DYNC2H1 | c.7293T>G (p.Asp2431Glu) c.*4838T>G (n.*4838T>G) c.2205+55253T>G (n.2205+55253T>G) c.6675T>G (p.Asp2225Glu) | gnomAD v4 |
| 11 | g.103189673T>A | CA382253607 | DYNC2H1 | c.7294T>A (p.Tyr2432Asn) c.*4839T>A (n.*4839T>A) c.2205+55254T>A (n.2205+55254T>A) c.6676T>A (p.Tyr2226Asn) | |
| 11 | g.103189673T>C | CA382253608 | DYNC2H1 | c.7294T>C (p.Tyr2432His) c.*4839T>C (n.*4839T>C) c.2205+55254T>C (n.2205+55254T>C) c.6676T>C (p.Tyr2226His) | |
| 11 | g.103189673T>G | CA382253610 | DYNC2H1 | c.7294T>G (p.Tyr2432Asp) c.*4839T>G (n.*4839T>G) c.2205+55254T>G (n.2205+55254T>G) c.6676T>G (p.Tyr2226Asp) | |
| 11 | g.103189674A>C | CA382253612 | DYNC2H1 | c.7295A>C (p.Tyr2432Ser) c.*4840A>C (n.*4840A>C) c.2205+55255A>C (n.2205+55255A>C) c.6677A>C (p.Tyr2226Ser) | |
| 11 | g.103189674A>G | CA382253613 | DYNC2H1 | c.7295A>G (p.Tyr2432Cys) c.*4840A>G (n.*4840A>G) c.2205+55255A>G (n.2205+55255A>G) c.6677A>G (p.Tyr2226Cys) | |
| 11 | g.103189674A>T | CA382253615 | DYNC2H1 | c.7295A>T (p.Tyr2432Phe) c.*4840A>T (n.*4840A>T) c.2205+55255A>T (n.2205+55255A>T) c.6677A>T (p.Tyr2226Phe) | |
| 11 | g.103189675C>A | CA382253617 | DYNC2H1 | c.7296C>A (p.Tyr2432Ter) c.*4841C>A (n.*4841C>A) c.2205+55256C>A (n.2205+55256C>A) c.6678C>A (p.Tyr2226Ter) | gnomAD v4 |
| 11 | g.103189675C>G | CA382253618 | DYNC2H1 | c.7296C>G (p.Tyr2432Ter) c.*4841C>G (n.*4841C>G) c.2205+55256C>G (n.2205+55256C>G) c.6678C>G (p.Tyr2226Ter) | |
| 11 | g.103189675C>T | CA476610319 | DYNC2H1 | c.7296C>T (p.Tyr2432=) c.*4841C>T (n.*4841C>T) c.2205+55256C>T (n.2205+55256C>T) c.6678C>T (p.Tyr2226=) | |
| 11 | g.103189676C>A | CA382253623 | DYNC2H1 | c.7297C>A (p.Pro2433Thr) c.*4842C>A (n.*4842C>A) c.2205+55257C>A (n.2205+55257C>A) c.6679C>A (p.Pro2227Thr) | dbSNP gnomAD v4 |
| 11 | g.103189676C= | CA1996420717 | DYNC2H1 | c.7297C= (p.Pro2433=) c.*4842C= (n.*4842C=) c.2205+55257C= (n.2205+55257C=) c.6679C= (p.Pro2227=) | |
| 11 | g.103189676C>G | CA382253620 | DYNC2H1 | c.7297C>G (p.Pro2433Ala) c.*4842C>G (n.*4842C>G) c.2205+55257C>G (n.2205+55257C>G) c.6679C>G (p.Pro2227Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103189676C>T | CA382253621 | DYNC2H1 | c.7297C>T (p.Pro2433Ser) c.*4842C>T (n.*4842C>T) c.2205+55257C>T (n.2205+55257C>T) c.6679C>T (p.Pro2227Ser) | gnomAD v4 |
| 11 | g.103189677C>A | CA382253624 | DYNC2H1 | c.7298C>A (p.Pro2433Gln) c.*4843C>A (n.*4843C>A) c.2205+55258C>A (n.2205+55258C>A) c.6680C>A (p.Pro2227Gln) | |
| 11 | g.103189677C>G | CA382253625 | DYNC2H1 | c.7298C>G (p.Pro2433Arg) c.*4843C>G (n.*4843C>G) c.2205+55258C>G (n.2205+55258C>G) c.6680C>G (p.Pro2227Arg) | COSMIC |
| 11 | g.103189677C>T | CA382253626 | DYNC2H1 | c.7298C>T (p.Pro2433Leu) c.*4843C>T (n.*4843C>T) c.2205+55258C>T (n.2205+55258C>T) c.6680C>T (p.Pro2227Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103189678A= | CA1996420718 | DYNC2H1 | c.7299A= (p.Pro2433=) c.*4844A= (n.*4844A=) c.2205+55259A= (n.2205+55259A=) c.6681A= (p.Pro2227=) | |
| 11 | g.103189678A>C | CA476610322 | DYNC2H1 | c.7299A>C (p.Pro2433=) c.*4844A>C (n.*4844A>C) c.2205+55259A>C (n.2205+55259A>C) c.6681A>C (p.Pro2227=) | |
| 11 | g.103189678A>G | CA6254211 | DYNC2H1 | c.7299A>G (p.Pro2433=) c.*4844A>G (n.*4844A>G) c.2205+55259A>G (n.2205+55259A>G) c.6681A>G (p.Pro2227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103189678A>T | CA476610324 | DYNC2H1 | c.7299A>T (p.Pro2433=) c.*4844A>T (n.*4844A>T) c.2205+55259A>T (n.2205+55259A>T) c.6681A>T (p.Pro2227=) | |
| 11 | g.103189679G>A | CA382253629 | DYNC2H1 | c.7300G>A (p.Glu2434Lys) c.*4845G>A (n.*4845G>A) c.2205+55260G>A (n.2205+55260G>A) c.6682G>A (p.Glu2228Lys) | |
| 11 | g.103189679G>C | CA382253631 | DYNC2H1 | c.7300G>C (p.Glu2434Gln) c.*4845G>C (n.*4845G>C) c.2205+55260G>C (n.2205+55260G>C) c.6682G>C (p.Glu2228Gln) | |
| 11 | g.103189679G>T | CA382253633 | DYNC2H1 | c.7300G>T (p.Glu2434Ter) c.*4845G>T (n.*4845G>T) c.2205+55260G>T (n.2205+55260G>T) c.6682G>T (p.Glu2228Ter) | |
| 11 | g.103189680A>C | CA382253634 | DYNC2H1 | c.7301A>C (p.Glu2434Ala) c.*4846A>C (n.*4846A>C) c.2205+55261A>C (n.2205+55261A>C) c.6683A>C (p.Glu2228Ala) | |
| 11 | g.103189680A>G | CA382253636 | DYNC2H1 | c.7301A>G (p.Glu2434Gly) c.*4846A>G (n.*4846A>G) c.2205+55261A>G (n.2205+55261A>G) c.6683A>G (p.Glu2228Gly) | COSMIC |
| 11 | g.103189680A>T | CA382253638 | DYNC2H1 | c.7301A>T (p.Glu2434Val) c.*4846A>T (n.*4846A>T) c.2205+55261A>T (n.2205+55261A>T) c.6683A>T (p.Glu2228Val) | gnomAD v4 |
| 11 | g.103189681A>C | CA382253639 | DYNC2H1 | c.7302A>C (p.Glu2434Asp) c.*4847A>C (n.*4847A>C) c.2205+55262A>C (n.2205+55262A>C) c.6684A>C (p.Glu2228Asp) | |
| 11 | g.103189681A>G | CA476610328 | DYNC2H1 | c.7302A>G (p.Glu2434=) c.*4847A>G (n.*4847A>G) c.2205+55262A>G (n.2205+55262A>G) c.6684A>G (p.Glu2228=) | |
| 11 | g.103189681A>T | CA382253641 | DYNC2H1 | c.7302A>T (p.Glu2434Asp) c.*4847A>T (n.*4847A>T) c.2205+55262A>T (n.2205+55262A>T) c.6684A>T (p.Glu2228Asp) | |
| 11 | g.103189682A>C | CA476610330 | DYNC2H1 | c.7303A>C (p.Arg2435=) c.*4848A>C (n.*4848A>C) c.2205+55263A>C (n.2205+55263A>C) c.6685A>C (p.Arg2229=) | |
| 11 | g.103189682A>G | CA382253644 | DYNC2H1 | c.7303A>G (p.Arg2435Gly) c.*4848A>G (n.*4848A>G) c.2205+55263A>G (n.2205+55263A>G) c.6685A>G (p.Arg2229Gly) | |
| 11 | g.103189682A>T | CA382253642 | DYNC2H1 | c.7303A>T (p.Arg2435Ter) c.*4848A>T (n.*4848A>T) c.2205+55263A>T (n.2205+55263A>T) c.6685A>T (p.Arg2229Ter) | |
| 11 | g.103189683G>A | CA6254212 | DYNC2H1 | c.7304G>A (p.Arg2435Lys) c.*4849G>A (n.*4849G>A) c.2205+55264G>A (n.2205+55264G>A) c.6686G>A (p.Arg2229Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103189683G>C | CA382253648 | DYNC2H1 | c.7304G>C (p.Arg2435Thr) c.*4849G>C (n.*4849G>C) c.2205+55264G>C (n.2205+55264G>C) c.6686G>C (p.Arg2229Thr) | |
| 11 | g.103189683G= | CA1996420719 | DYNC2H1 | c.7304G= (p.Arg2435=) c.*4849G= (n.*4849G=) c.2205+55264G= (n.2205+55264G=) c.6686G= (p.Arg2229=) | |
| 11 | g.103189683G>T | CA382253647 | DYNC2H1 | c.7304G>T (p.Arg2435Ile) c.*4849G>T (n.*4849G>T) c.2205+55264G>T (n.2205+55264G>T) c.6686G>T (p.Arg2229Ile) | |
| 11 | g.103189684A>C | CA382253650 | DYNC2H1 | c.7305A>C (p.Arg2435Ser) c.*4850A>C (n.*4850A>C) c.2205+55265A>C (n.2205+55265A>C) c.6687A>C (p.Arg2229Ser) | |
| 11 | g.103189684A>G | CA476610332 | DYNC2H1 | c.7305A>G (p.Arg2435=) c.*4850A>G (n.*4850A>G) c.2205+55265A>G (n.2205+55265A>G) c.6687A>G (p.Arg2229=) | |
| 11 | g.103189684A>T | CA382253652 | DYNC2H1 | c.7305A>T (p.Arg2435Ser) c.*4850A>T (n.*4850A>T) c.2205+55265A>T (n.2205+55265A>T) c.6687A>T (p.Arg2229Ser) |