WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103185032G>A | CA210507 | DYNC2H1 | c.6614G>A (p.Arg2205His) c.*4159G>A (n.*4159G>A) c.2205+50613G>A (n.2205+50613G>A) c.5996G>A (p.Arg1999His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.103185032G>C | CA382249182 | DYNC2H1 | c.6614G>C (p.Arg2205Pro) c.*4159G>C (n.*4159G>C) c.2205+50613G>C (n.2205+50613G>C) c.5996G>C (p.Arg1999Pro) | |
| 11 | g.103185032G= | CA1996418779 | DYNC2H1 | c.6614G= (p.Arg2205=) c.*4159G= (n.*4159G=) c.2205+50613G= (n.2205+50613G=) c.5996G= (p.Arg1999=) | |
| 11 | g.103185032G>T | CA382249180 | DYNC2H1 | c.6614G>T (p.Arg2205Leu) c.*4159G>T (n.*4159G>T) c.2205+50613G>T (n.2205+50613G>T) c.5996G>T (p.Arg1999Leu) | |
| 11 | g.103185033T>A | CA476609811 | DYNC2H1 | c.6615T>A (p.Arg2205=) c.*4160T>A (n.*4160T>A) c.2205+50614T>A (n.2205+50614T>A) c.5997T>A (p.Arg1999=) | |
| 11 | g.103185033T>C | CA476609813 | DYNC2H1 | c.6615T>C (p.Arg2205=) c.*4160T>C (n.*4160T>C) c.2205+50614T>C (n.2205+50614T>C) c.5997T>C (p.Arg1999=) | |
| 11 | g.103185033T>G | CA476609814 | DYNC2H1 | c.6615T>G (p.Arg2205=) c.*4160T>G (n.*4160T>G) c.2205+50614T>G (n.2205+50614T>G) c.5997T>G (p.Arg1999=) | |
| 11 | g.103185034T>A | CA382249184 | DYNC2H1 | c.6616T>A (p.Leu2206Met) c.*4161T>A (n.*4161T>A) c.2205+50615T>A (n.2205+50615T>A) c.5998T>A (p.Leu2000Met) | |
| 11 | g.103185034T>C | CA476609816 | DYNC2H1 | c.6616T>C (p.Leu2206=) c.*4161T>C (n.*4161T>C) c.2205+50615T>C (n.2205+50615T>C) c.5998T>C (p.Leu2000=) | |
| 11 | g.103185034T>G | CA382249186 | DYNC2H1 | c.6616T>G (p.Leu2206Val) c.*4161T>G (n.*4161T>G) c.2205+50615T>G (n.2205+50615T>G) c.5998T>G (p.Leu2000Val) | |
| 11 | g.103185035T>A | CA382249188 | DYNC2H1 | c.6617T>A (p.Leu2206Ter) c.*4162T>A (n.*4162T>A) c.2205+50616T>A (n.2205+50616T>A) c.5999T>A (p.Leu2000Ter) | |
| 11 | g.103185035T>C | CA382249192 | DYNC2H1 | c.6617T>C (p.Leu2206Ser) c.*4162T>C (n.*4162T>C) c.2205+50616T>C (n.2205+50616T>C) c.5999T>C (p.Leu2000Ser) | |
| 11 | g.103185035T>G | CA382249190 | DYNC2H1 | c.6617T>G (p.Leu2206Trp) c.*4162T>G (n.*4162T>G) c.2205+50616T>G (n.2205+50616T>G) c.5999T>G (p.Leu2000Trp) | |
| 11 | g.103185036G>A | CA476609817 | DYNC2H1 | c.6618G>A (p.Leu2206=) c.*4163G>A (n.*4163G>A) c.2205+50617G>A (n.2205+50617G>A) c.6000G>A (p.Leu2000=) | |
| 11 | g.103185036G>C | CA382249194 | DYNC2H1 | c.6618G>C (p.Leu2206Phe) c.*4163G>C (n.*4163G>C) c.2205+50617G>C (n.2205+50617G>C) c.6000G>C (p.Leu2000Phe) | |
| 11 | g.103185036G>T | CA382249196 | DYNC2H1 | c.6618G>T (p.Leu2206Phe) c.*4163G>T (n.*4163G>T) c.2205+50617G>T (n.2205+50617G>T) c.6000G>T (p.Leu2000Phe) | |
| 11 | g.103185037G>A | CA382249198 | DYNC2H1 | c.6619G>A (p.Glu2207Lys) c.*4164G>A (n.*4164G>A) c.2205+50618G>A (n.2205+50618G>A) c.6001G>A (p.Glu2001Lys) | |
| 11 | g.103185037G>C | CA382249200 | DYNC2H1 | c.6619G>C (p.Glu2207Gln) c.*4164G>C (n.*4164G>C) c.2205+50618G>C (n.2205+50618G>C) c.6001G>C (p.Glu2001Gln) | |
| 11 | g.103185037G>T | CA382249202 | DYNC2H1 | c.6619G>T (p.Glu2207Ter) c.*4164G>T (n.*4164G>T) c.2205+50618G>T (n.2205+50618G>T) c.6001G>T (p.Glu2001Ter) | |
| 11 | g.103185038A>C | CA382249204 | DYNC2H1 | c.6620A>C (p.Glu2207Ala) c.*4165A>C (n.*4165A>C) c.2205+50619A>C (n.2205+50619A>C) c.6002A>C (p.Glu2001Ala) | |
| 11 | g.103185038A>G | CA382249206 | DYNC2H1 | c.6620A>G (p.Glu2207Gly) c.*4165A>G (n.*4165A>G) c.2205+50619A>G (n.2205+50619A>G) c.6002A>G (p.Glu2001Gly) | |
| 11 | g.103185038A>T | CA382249208 | DYNC2H1 | c.6620A>T (p.Glu2207Val) c.*4165A>T (n.*4165A>T) c.2205+50619A>T (n.2205+50619A>T) c.6002A>T (p.Glu2001Val) | |
| 11 | g.103185039A>C | CA382249210 | DYNC2H1 | c.6621A>C (p.Glu2207Asp) c.*4166A>C (n.*4166A>C) c.2205+50620A>C (n.2205+50620A>C) c.6003A>C (p.Glu2001Asp) | |
| 11 | g.103185039A>G | CA476609824 | DYNC2H1 | c.6621A>G (p.Glu2207=) c.*4166A>G (n.*4166A>G) c.2205+50620A>G (n.2205+50620A>G) c.6003A>G (p.Glu2001=) | |
| 11 | g.103185039A>T | CA382249212 | DYNC2H1 | c.6621A>T (p.Glu2207Asp) c.*4166A>T (n.*4166A>T) c.2205+50620A>T (n.2205+50620A>T) c.6003A>T (p.Glu2001Asp) | |
| 11 | g.103185040T>A | CA382249218 | DYNC2H1 | c.6622T>A (p.Phe2208Ile) c.*4167T>A (n.*4167T>A) c.2205+50621T>A (n.2205+50621T>A) c.6004T>A (p.Phe2002Ile) | |
| 11 | g.103185040T>C | CA382249216 | DYNC2H1 | c.6622T>C (p.Phe2208Leu) c.*4167T>C (n.*4167T>C) c.2205+50621T>C (n.2205+50621T>C) c.6004T>C (p.Phe2002Leu) | dbSNP |
| 11 | g.103185040T>G | CA382249214 | DYNC2H1 | c.6622T>G (p.Phe2208Val) c.*4167T>G (n.*4167T>G) c.2205+50621T>G (n.2205+50621T>G) c.6004T>G (p.Phe2002Val) | |
| 11 | g.103185040T= | CA1996418780 | DYNC2H1 | c.6622T= (p.Phe2208=) c.*4167T= (n.*4167T=) c.2205+50621T= (n.2205+50621T=) c.6004T= (p.Phe2002=) | |
| 11 | g.103185041T>A | CA382249220 | DYNC2H1 | c.6623T>A (p.Phe2208Tyr) c.*4168T>A (n.*4168T>A) c.2205+50622T>A (n.2205+50622T>A) c.6005T>A (p.Phe2002Tyr) | |
| 11 | g.103185041T>C | CA382249222 | DYNC2H1 | c.6623T>C (p.Phe2208Ser) c.*4168T>C (n.*4168T>C) c.2205+50622T>C (n.2205+50622T>C) c.6005T>C (p.Phe2002Ser) | |
| 11 | g.103185041T>G | CA382249223 | DYNC2H1 | c.6623T>G (p.Phe2208Cys) c.*4168T>G (n.*4168T>G) c.2205+50622T>G (n.2205+50622T>G) c.6005T>G (p.Phe2002Cys) | |
| 11 | g.103185042T>A | CA382249225 | DYNC2H1 | c.6624T>A (p.Phe2208Leu) c.*4169T>A (n.*4169T>A) c.2205+50623T>A (n.2205+50623T>A) c.6006T>A (p.Phe2002Leu) | |
| 11 | g.103185042T>C | CA476609828 | DYNC2H1 | c.6624T>C (p.Phe2208=) c.*4169T>C (n.*4169T>C) c.2205+50623T>C (n.2205+50623T>C) c.6006T>C (p.Phe2002=) | |
| 11 | g.103185042T>G | CA382249227 | DYNC2H1 | c.6624T>G (p.Phe2208Leu) c.*4169T>G (n.*4169T>G) c.2205+50623T>G (n.2205+50623T>G) c.6006T>G (p.Phe2002Leu) | |
| 11 | g.103185043A= | CA1996418781 | DYNC2H1 | c.6625A= (p.Thr2209=) c.*4170A= (n.*4170A=) c.2205+50624A= (n.2205+50624A=) c.6007A= (p.Thr2003=) | |
| 11 | g.103185043A>C | CA382249229 | DYNC2H1 | c.6625A>C (p.Thr2209Pro) c.*4170A>C (n.*4170A>C) c.2205+50624A>C (n.2205+50624A>C) c.6007A>C (p.Thr2003Pro) | |
| 11 | g.103185043A>G | CA382249231 | DYNC2H1 | c.6625A>G (p.Thr2209Ala) c.*4170A>G (n.*4170A>G) c.2205+50624A>G (n.2205+50624A>G) c.6007A>G (p.Thr2003Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185043A>T | CA6254014 | DYNC2H1 | c.6625A>T (p.Thr2209Ser) c.*4170A>T (n.*4170A>T) c.2205+50624A>T (n.2205+50624A>T) c.6007A>T (p.Thr2003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103185044C>A | CA382249234 | DYNC2H1 | c.6626C>A (p.Thr2209Asn) c.*4171C>A (n.*4171C>A) c.2205+50625C>A (n.2205+50625C>A) c.6008C>A (p.Thr2003Asn) | |
| 11 | g.103185044C>G | CA382249235 | DYNC2H1 | c.6626C>G (p.Thr2209Ser) c.*4171C>G (n.*4171C>G) c.2205+50625C>G (n.2205+50625C>G) c.6008C>G (p.Thr2003Ser) | |
| 11 | g.103185044C>T | CA382249236 | DYNC2H1 | c.6626C>T (p.Thr2209Ile) c.*4171C>T (n.*4171C>T) c.2205+50625C>T (n.2205+50625C>T) c.6008C>T (p.Thr2003Ile) | ClinVar |
| 11 | g.103185045C>A | CA476609833 | DYNC2H1 | c.6627C>A (p.Thr2209=) c.*4172C>A (n.*4172C>A) c.2205+50626C>A (n.2205+50626C>A) c.6009C>A (p.Thr2003=) | |
| 11 | g.103185045C>G | CA476609834 | DYNC2H1 | c.6627C>G (p.Thr2209=) c.*4172C>G (n.*4172C>G) c.2205+50626C>G (n.2205+50626C>G) c.6009C>G (p.Thr2003=) | |
| 11 | g.103185045C>T | CA476609835 | DYNC2H1 | c.6627C>T (p.Thr2209=) c.*4172C>T (n.*4172C>T) c.2205+50626C>T (n.2205+50626C>T) c.6009C>T (p.Thr2003=) | |
| 11 | g.103185046A>C | CA382249240 | DYNC2H1 | c.6628A>C (p.Lys2210Gln) c.*4173A>C (n.*4173A>C) c.2205+50627A>C (n.2205+50627A>C) c.6010A>C (p.Lys2004Gln) | |
| 11 | g.103185046A>G | CA382249242 | DYNC2H1 | c.6628A>G (p.Lys2210Glu) c.*4173A>G (n.*4173A>G) c.2205+50627A>G (n.2205+50627A>G) c.6010A>G (p.Lys2004Glu) | |
| 11 | g.103185046A>T | CA382249238 | DYNC2H1 | c.6628A>T (p.Lys2210Ter) c.*4173A>T (n.*4173A>T) c.2205+50627A>T (n.2205+50627A>T) c.6010A>T (p.Lys2004Ter) | |
| 11 | g.103185047A>C | CA382249243 | DYNC2H1 | c.6629A>C (p.Lys2210Thr) c.*4174A>C (n.*4174A>C) c.2205+50628A>C (n.2205+50628A>C) c.6011A>C (p.Lys2004Thr) | |
| 11 | g.103185047A>G | CA382249245 | DYNC2H1 | c.6629A>G (p.Lys2210Arg) c.*4174A>G (n.*4174A>G) c.2205+50628A>G (n.2205+50628A>G) c.6011A>G (p.Lys2004Arg) |