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.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.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) | |
| 11 | g.103189685G>A | CA382253654 | DYNC2H1 | c.7306G>A (p.Glu2436Lys) c.*4851G>A (n.*4851G>A) c.2205+55266G>A (n.2205+55266G>A) c.6688G>A (p.Glu2230Lys) | |
| 11 | g.103189685G>C | CA227405668 | DYNC2H1 | c.7306G>C (p.Glu2436Gln) c.*4851G>C (n.*4851G>C) c.2205+55266G>C (n.2205+55266G>C) c.6688G>C (p.Glu2230Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103189685G= | CA1996420720 | DYNC2H1 | c.7306G= (p.Glu2436=) c.*4851G= (n.*4851G=) c.2205+55266G= (n.2205+55266G=) c.6688G= (p.Glu2230=) | |
| 11 | g.103189685G>T | CA382253655 | DYNC2H1 | c.7306G>T (p.Glu2436Ter) c.*4851G>T (n.*4851G>T) c.2205+55266G>T (n.2205+55266G>T) c.6688G>T (p.Glu2230Ter) | |
| 11 | g.103189686A= | CA1996420721 | DYNC2H1 | c.7307A= (p.Glu2436=) c.*4852A= (n.*4852A=) c.2205+55267A= (n.2205+55267A=) c.6689A= (p.Glu2230=) | |
| 11 | g.103189686A>C | CA382253658 | DYNC2H1 | c.7307A>C (p.Glu2436Ala) c.*4852A>C (n.*4852A>C) c.2205+55267A>C (n.2205+55267A>C) c.6689A>C (p.Glu2230Ala) | COSMIC |
| 11 | g.103189686A>G | CA227405670 | DYNC2H1 | c.7307A>G (p.Glu2436Gly) c.*4852A>G (n.*4852A>G) c.2205+55267A>G (n.2205+55267A>G) c.6689A>G (p.Glu2230Gly) | dbSNP gnomAD v4 |
| 11 | g.103189686A>T | CA382253660 | DYNC2H1 | c.7307A>T (p.Glu2436Val) c.*4852A>T (n.*4852A>T) c.2205+55267A>T (n.2205+55267A>T) c.6689A>T (p.Glu2230Val) | |
| 11 | g.103189687G>A | CA6254213 | DYNC2H1 | c.7308G>A (p.Glu2436=) c.*4853G>A (n.*4853G>A) c.2205+55268G>A (n.2205+55268G>A) c.6690G>A (p.Glu2230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103189687G>C | CA382253663 | DYNC2H1 | c.7308G>C (p.Glu2436Asp) c.*4853G>C (n.*4853G>C) c.2205+55268G>C (n.2205+55268G>C) c.6690G>C (p.Glu2230Asp) | |
| 11 | g.103189687G= | CA1996420722 | DYNC2H1 | c.7308G= (p.Glu2436=) c.*4853G= (n.*4853G=) c.2205+55268G= (n.2205+55268G=) c.6690G= (p.Glu2230=) | |
| 11 | g.103189687G>T | CA382253664 | DYNC2H1 | c.7308G>T (p.Glu2436Asp) c.*4853G>T (n.*4853G>T) c.2205+55268G>T (n.2205+55268G>T) c.6690G>T (p.Glu2230Asp) | |
| 11 | g.103189688C>A | CA382253666 | DYNC2H1 | c.7309C>A (p.Gln2437Lys) c.*4854C>A (n.*4854C>A) c.2205+55269C>A (n.2205+55269C>A) c.6691C>A (p.Gln2231Lys) | gnomAD v4 |
| 11 | g.103189688C>G | CA382253668 | DYNC2H1 | c.7309C>G (p.Gln2437Glu) c.*4854C>G (n.*4854C>G) c.2205+55269C>G (n.2205+55269C>G) c.6691C>G (p.Gln2231Glu) | |
| 11 | g.103189688C>T | CA382253669 | DYNC2H1 | c.7309C>T (p.Gln2437Ter) c.*4854C>T (n.*4854C>T) c.2205+55269C>T (n.2205+55269C>T) c.6691C>T (p.Gln2231Ter) | |
| 11 | g.103189689A>C | CA382253671 | DYNC2H1 | c.7310A>C (p.Gln2437Pro) c.*4855A>C (n.*4855A>C) c.2205+55270A>C (n.2205+55270A>C) c.6692A>C (p.Gln2231Pro) | gnomAD v4 |
| 11 | g.103189689A>G | CA382253672 | DYNC2H1 | c.7310A>G (p.Gln2437Arg) c.*4855A>G (n.*4855A>G) c.2205+55270A>G (n.2205+55270A>G) c.6692A>G (p.Gln2231Arg) | |
| 11 | g.103189689A>T | CA382253674 | DYNC2H1 | c.7310A>T (p.Gln2437Leu) c.*4855A>T (n.*4855A>T) c.2205+55270A>T (n.2205+55270A>T) c.6692A>T (p.Gln2231Leu) | |
| 11 | g.103189690G>A | CA476610337 | DYNC2H1 | c.7311G>A (p.Gln2437=) c.*4856G>A (n.*4856G>A) c.2205+55271G>A (n.2205+55271G>A) c.6693G>A (p.Gln2231=) | |
| 11 | g.103189690G>C | CA382253676 | DYNC2H1 | c.7311G>C (p.Gln2437His) c.*4856G>C (n.*4856G>C) c.2205+55271G>C (n.2205+55271G>C) c.6693G>C (p.Gln2231His) | |
| 11 | g.103189690G>T | CA382253677 | DYNC2H1 | c.7311G>T (p.Gln2437His) c.*4856G>T (n.*4856G>T) c.2205+55271G>T (n.2205+55271G>T) c.6693G>T (p.Gln2231His) | |
| 11 | g.103189691T>A | CA382253679 | DYNC2H1 | c.7312T>A (p.Leu2438Ile) c.*4857T>A (n.*4857T>A) c.2205+55272T>A (n.2205+55272T>A) c.6694T>A (p.Leu2232Ile) | |
| 11 | g.103189691T>C | CA476610338 | DYNC2H1 | c.7312T>C (p.Leu2438=) c.*4857T>C (n.*4857T>C) c.2205+55272T>C (n.2205+55272T>C) c.6694T>C (p.Leu2232=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103189691T>G | CA382253681 | DYNC2H1 | c.7312T>G (p.Leu2438Val) c.*4857T>G (n.*4857T>G) c.2205+55272T>G (n.2205+55272T>G) c.6694T>G (p.Leu2232Val) | |
| 11 | g.103189691T= | CA1996420723 | DYNC2H1 | c.7312T= (p.Leu2438=) c.*4857T= (n.*4857T=) c.2205+55272T= (n.2205+55272T=) c.6694T= (p.Leu2232=) | |
| 11 | g.103189692T>A | CA382253683 | DYNC2H1 | c.7313T>A (p.Leu2438Ter) c.*4858T>A (n.*4858T>A) c.2205+55273T>A (n.2205+55273T>A) c.6695T>A (p.Leu2232Ter) | |
| 11 | g.103189692T>C | CA382253684 | DYNC2H1 | c.7313T>C (p.Leu2438Ser) c.*4858T>C (n.*4858T>C) c.2205+55273T>C (n.2205+55273T>C) c.6695T>C (p.Leu2232Ser) | |
| 11 | g.103189692T>G | CA382253685 | DYNC2H1 | c.7313T>G (p.Leu2438Ter) c.*4858T>G (n.*4858T>G) c.2205+55273T>G (n.2205+55273T>G) c.6695T>G (p.Leu2232Ter) | |
| 11 | g.103189693A= | CA1996420724 | DYNC2H1 | c.7314A= (p.Leu2438=) c.*4859A= (n.*4859A=) c.2205+55274A= (n.2205+55274A=) c.6696A= (p.Leu2232=) | |
| 11 | g.103189693A>C | CA382253687 | DYNC2H1 | c.7314A>C (p.Leu2438Phe) c.*4859A>C (n.*4859A>C) c.2205+55274A>C (n.2205+55274A>C) c.6696A>C (p.Leu2232Phe) |