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.103220621A>C | CA382262642 | DYNC2H1 | c.8947-2A>C (n.8947-2A>C) c.2205+86202A>C (n.2205+86202A>C) c.8926-2A>C (n.8926-2A>C) c.8329-2A>C (n.8329-2A>C) | |
| 11 | g.103220621A>G | CA382262643 | DYNC2H1 | c.8947-2A>G (n.8947-2A>G) c.2205+86202A>G (n.2205+86202A>G) c.8926-2A>G (n.8926-2A>G) c.8329-2A>G (n.8329-2A>G) | ClinVar |
| 11 | g.103220621A>T | CA382262644 | DYNC2H1 | c.8947-2A>T (n.8947-2A>T) c.2205+86202A>T (n.2205+86202A>T) c.8926-2A>T (n.8926-2A>T) c.8329-2A>T (n.8329-2A>T) | |
| 11 | g.103220622G>A | CA227417200 | DYNC2H1 | c.8947-1G>A (n.8947-1G>A) c.2205+86203G>A (n.2205+86203G>A) c.8926-1G>A (n.8926-1G>A) c.8329-1G>A (n.8329-1G>A) | dbSNP gnomAD v4 |
| 11 | g.103220622G>C | CA382262645 | DYNC2H1 | c.8947-1G>C (n.8947-1G>C) c.2205+86203G>C (n.2205+86203G>C) c.8926-1G>C (n.8926-1G>C) c.8329-1G>C (n.8329-1G>C) | |
| 11 | g.103220622G= | CA1996434088 | DYNC2H1 | c.8947-1G= (n.8947-1G=) c.2205+86203G= (n.2205+86203G=) c.8926-1G= (n.8926-1G=) c.8329-1G= (n.8329-1G=) | |
| 11 | g.103220622G>T | CA210623 | DYNC2H1 | c.8947-1G>T (n.8947-1G>T) c.2205+86203G>T (n.2205+86203G>T) c.8926-1G>T (n.8926-1G>T) c.8329-1G>T (n.8329-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.103220623C>A | CA382262646 | DYNC2H1 | c.8947C>A (p.Pro2983Thr) c.2205+86204C>A (n.2205+86204C>A) c.8926C>A (p.Pro2976Thr) c.8329C>A (p.Pro2777Thr) | gnomAD v4 |
| 11 | g.103220623C= | CA1996434089 | DYNC2H1 | c.8947C= (p.Pro2983=) c.2205+86204C= (n.2205+86204C=) c.8926C= (p.Pro2976=) c.8329C= (p.Pro2777=) | |
| 11 | g.103220623C>G | CA6254578 | DYNC2H1 | c.8947C>G (p.Pro2983Ala) c.2205+86204C>G (n.2205+86204C>G) c.8926C>G (p.Pro2976Ala) c.8329C>G (p.Pro2777Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220623C>T | CA382262647 | DYNC2H1 | c.8947C>T (p.Pro2983Ser) c.2205+86204C>T (n.2205+86204C>T) c.8926C>T (p.Pro2976Ser) c.8329C>T (p.Pro2777Ser) | gnomAD v4 COSMIC |
| 11 | g.103220624C>A | CA382262648 | DYNC2H1 | c.8948C>A (p.Pro2983His) c.2205+86205C>A (n.2205+86205C>A) c.8927C>A (p.Pro2976His) c.8330C>A (p.Pro2777His) | gnomAD v4 |
| 11 | g.103220624C= | CA1996434090 | DYNC2H1 | c.8948C= (p.Pro2983=) c.2205+86205C= (n.2205+86205C=) c.8927C= (p.Pro2976=) c.8330C= (p.Pro2777=) | |
| 11 | g.103220624C>G | CA382262649 | DYNC2H1 | c.8948C>G (p.Pro2983Arg) c.2205+86205C>G (n.2205+86205C>G) c.8927C>G (p.Pro2976Arg) c.8330C>G (p.Pro2777Arg) | |
| 11 | g.103220624C>T | CA382262650 | DYNC2H1 | c.8948C>T (p.Pro2983Leu) c.2205+86205C>T (n.2205+86205C>T) c.8927C>T (p.Pro2976Leu) c.8330C>T (p.Pro2777Leu) | dbSNP |
| 11 | g.103220625T>A | CA476622019 | DYNC2H1 | c.8949T>A (p.Pro2983=) c.2205+86206T>A (n.2205+86206T>A) c.8928T>A (p.Pro2976=) c.8331T>A (p.Pro2777=) | |
| 11 | g.103220625T>C | CA476622022 | DYNC2H1 | c.8949T>C (p.Pro2983=) c.2205+86206T>C (n.2205+86206T>C) c.8928T>C (p.Pro2976=) c.8331T>C (p.Pro2777=) | |
| 11 | g.103220625T>G | CA476622020 | DYNC2H1 | c.8949T>G (p.Pro2983=) c.2205+86206T>G (n.2205+86206T>G) c.8928T>G (p.Pro2976=) c.8331T>G (p.Pro2777=) | gnomAD v4 |
| 11 | g.103220627del | CA2582342472 | DYNC2H1 | c.8951del (p.Leu2984Ter) c.2205+86208del (n.2205+86208del) c.8930del (p.Leu2977Ter) c.8333del (p.Leu2778Ter) | ClinVar gnomAD v4 |
| 11 | g.103220626T>A | CA382262651 | DYNC2H1 | c.8950T>A (p.Leu2984Ile) c.2205+86207T>A (n.2205+86207T>A) c.8929T>A (p.Leu2977Ile) c.8332T>A (p.Leu2778Ile) | dbSNP |
| 11 | g.103220626T>C | CA476622027 | DYNC2H1 | c.8950T>C (p.Leu2984=) c.2205+86207T>C (n.2205+86207T>C) c.8929T>C (p.Leu2977=) c.8332T>C (p.Leu2778=) | |
| 11 | g.103220626T>G | CA382262652 | DYNC2H1 | c.8950T>G (p.Leu2984Val) c.2205+86207T>G (n.2205+86207T>G) c.8929T>G (p.Leu2977Val) c.8332T>G (p.Leu2778Val) | |
| 11 | g.103220626T= | CA1996434091 | DYNC2H1 | c.8950T= (p.Leu2984=) c.2205+86207T= (n.2205+86207T=) c.8929T= (p.Leu2977=) c.8332T= (p.Leu2778=) | |
| 11 | g.103220627T>A | CA382262653 | DYNC2H1 | c.8951T>A (p.Leu2984Ter) c.2205+86208T>A (n.2205+86208T>A) c.8930T>A (p.Leu2977Ter) c.8333T>A (p.Leu2778Ter) | |
| 11 | g.103220627T>C | CA382262654 | DYNC2H1 | c.8951T>C (p.Leu2984Ser) c.2205+86208T>C (n.2205+86208T>C) c.8930T>C (p.Leu2977Ser) c.8333T>C (p.Leu2778Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220627T>G | CA382262655 | DYNC2H1 | c.8951T>G (p.Leu2984Ter) c.2205+86208T>G (n.2205+86208T>G) c.8930T>G (p.Leu2977Ter) c.8333T>G (p.Leu2778Ter) | |
| 11 | g.103220627T= | CA1996434092 | DYNC2H1 | c.8951T= (p.Leu2984=) c.2205+86208T= (n.2205+86208T=) c.8930T= (p.Leu2977=) c.8333T= (p.Leu2778=) | |
| 11 | g.103220628A>C | CA382262656 | DYNC2H1 | c.8952A>C (p.Leu2984Phe) c.2205+86209A>C (n.2205+86209A>C) c.8931A>C (p.Leu2977Phe) c.8334A>C (p.Leu2778Phe) | |
| 11 | g.103220628A>G | CA476622032 | DYNC2H1 | c.8952A>G (p.Leu2984=) c.2205+86209A>G (n.2205+86209A>G) c.8931A>G (p.Leu2977=) c.8334A>G (p.Leu2778=) | gnomAD v4 |
| 11 | g.103220628A>T | CA382262657 | DYNC2H1 | c.8952A>T (p.Leu2984Phe) c.2205+86209A>T (n.2205+86209A>T) c.8931A>T (p.Leu2977Phe) c.8334A>T (p.Leu2778Phe) | |
| 11 | g.103220629G>A | CA382262659 | DYNC2H1 | c.8953G>A (p.Val2985Ile) c.2205+86210G>A (n.2205+86210G>A) c.8932G>A (p.Val2978Ile) c.8335G>A (p.Val2779Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220629G>C | CA382262660 | DYNC2H1 | c.8953G>C (p.Val2985Leu) c.2205+86210G>C (n.2205+86210G>C) c.8932G>C (p.Val2978Leu) c.8335G>C (p.Val2779Leu) | |
| 11 | g.103220629G= | CA1996434093 | DYNC2H1 | c.8953G= (p.Val2985=) c.2205+86210G= (n.2205+86210G=) c.8932G= (p.Val2978=) c.8335G= (p.Val2779=) | |
| 11 | g.103220629G>T | CA382262658 | DYNC2H1 | c.8953G>T (p.Val2985Phe) c.2205+86210G>T (n.2205+86210G>T) c.8932G>T (p.Val2978Phe) c.8335G>T (p.Val2779Phe) | |
| 11 | g.103220630T>A | CA382262663 | DYNC2H1 | c.8954T>A (p.Val2985Asp) c.2205+86211T>A (n.2205+86211T>A) c.8933T>A (p.Val2978Asp) c.8336T>A (p.Val2779Asp) | |
| 11 | g.103220630T>C | CA382262661 | DYNC2H1 | c.8954T>C (p.Val2985Ala) c.2205+86211T>C (n.2205+86211T>C) c.8933T>C (p.Val2978Ala) c.8336T>C (p.Val2779Ala) | |
| 11 | g.103220630T>G | CA382262662 | DYNC2H1 | c.8954T>G (p.Val2985Gly) c.2205+86211T>G (n.2205+86211T>G) c.8933T>G (p.Val2978Gly) c.8336T>G (p.Val2779Gly) | dbSNP |
| 11 | g.103220630T= | CA1996434094 | DYNC2H1 | c.8954T= (p.Val2985=) c.2205+86211T= (n.2205+86211T=) c.8933T= (p.Val2978=) c.8336T= (p.Val2779=) | |
| 11 | g.103220631C>A | CA476622039 | DYNC2H1 | c.8955C>A (p.Val2985=) c.2205+86212C>A (n.2205+86212C>A) c.8934C>A (p.Val2978=) c.8337C>A (p.Val2779=) | gnomAD v4 COSMIC |
| 11 | g.103220631C>G | CA476622041 | DYNC2H1 | c.8955C>G (p.Val2985=) c.2205+86212C>G (n.2205+86212C>G) c.8934C>G (p.Val2978=) c.8337C>G (p.Val2779=) | |
| 11 | g.103220631C>T | CA476622043 | DYNC2H1 | c.8955C>T (p.Val2985=) c.2205+86212C>T (n.2205+86212C>T) c.8934C>T (p.Val2978=) c.8337C>T (p.Val2779=) | |
| 11 | g.103220632A= | CA1996434095 | DYNC2H1 | c.8956A= (p.Asn2986=) c.2205+86213A= (n.2205+86213A=) c.8935A= (p.Asn2979=) c.8338A= (p.Asn2780=) | |
| 11 | g.103220632A>C | CA382262664 | DYNC2H1 | c.8956A>C (p.Asn2986His) c.2205+86213A>C (n.2205+86213A>C) c.8935A>C (p.Asn2979His) c.8338A>C (p.Asn2780His) | gnomAD v4 |
| 11 | g.103220632A>G | CA382262665 | DYNC2H1 | c.8956A>G (p.Asn2986Asp) c.2205+86213A>G (n.2205+86213A>G) c.8935A>G (p.Asn2979Asp) c.8338A>G (p.Asn2780Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.103220632A>T | CA382262666 | DYNC2H1 | c.8956A>T (p.Asn2986Tyr) c.2205+86213A>T (n.2205+86213A>T) c.8935A>T (p.Asn2979Tyr) c.8338A>T (p.Asn2780Tyr) | |
| 11 | g.103220633A= | CA1996434096 | DYNC2H1 | c.8957A= (p.Asn2986=) c.2205+86214A= (n.2205+86214A=) c.8936A= (p.Asn2979=) c.8339A= (p.Asn2780=) | |
| 11 | g.103220633A>C | CA382262667 | DYNC2H1 | c.8957A>C (p.Asn2986Thr) c.2205+86214A>C (n.2205+86214A>C) c.8936A>C (p.Asn2979Thr) c.8339A>C (p.Asn2780Thr) | |
| 11 | g.103220633A>G | CA382262668 | DYNC2H1 | c.8957A>G (p.Asn2986Ser) c.2205+86214A>G (n.2205+86214A>G) c.8936A>G (p.Asn2979Ser) c.8339A>G (p.Asn2780Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103220633A>T | CA382262669 | DYNC2H1 | c.8957A>T (p.Asn2986Ile) c.2205+86214A>T (n.2205+86214A>T) c.8936A>T (p.Asn2979Ile) c.8339A>T (p.Asn2780Ile) | |
| 11 | g.103220634T>A | CA382262670 | DYNC2H1 | c.8958T>A (p.Asn2986Lys) c.2205+86215T>A (n.2205+86215T>A) c.8937T>A (p.Asn2979Lys) c.8340T>A (p.Asn2780Lys) |