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 |
|---|---|---|---|---|---|
| 6 | g.15637786_15637791del | CA2677408396 | DTNBP1 | c.175_180del (p.Trp59_Ala60del) c.124_129del (p.Trp42_Ala43del) c.*173_*178del (n.*173_*178del) c.*85_*90del (n.*85_*90del) c.70_75del (p.Trp24_Ala25del) c.-69_-64del (n.-69_-64del) n.503_508del c.136_141del (p.Trp46_Ala47del) c.85_90del (p.Trp29_Ala30del) n.473_478del | gnomAD v4 |
| 6 | g.15637790C>A | CA362869613 | DTNBP1 | c.176G>T (p.Trp59Leu) c.125G>T (p.Trp42Leu) c.*174G>T (n.*174G>T) c.*86G>T (n.*86G>T) c.71G>T (p.Trp24Leu) c.-68G>T (n.-68G>T) n.504G>T c.137G>T (p.Trp46Leu) c.86G>T (p.Trp29Leu) n.474G>T | |
| 6 | g.15637790C>G | CA362869612 | DTNBP1 | c.176G>C (p.Trp59Ser) c.125G>C (p.Trp42Ser) c.*174G>C (n.*174G>C) c.*86G>C (n.*86G>C) c.71G>C (p.Trp24Ser) c.-68G>C (n.-68G>C) n.504G>C c.137G>C (p.Trp46Ser) c.86G>C (p.Trp29Ser) n.474G>C | |
| 6 | g.15637790C>T | CA362869611 | DTNBP1 | c.176G>A (p.Trp59Ter) c.125G>A (p.Trp42Ter) c.*174G>A (n.*174G>A) c.*86G>A (n.*86G>A) c.71G>A (p.Trp24Ter) c.-68G>A (n.-68G>A) n.504G>A c.137G>A (p.Trp46Ter) c.86G>A (p.Trp29Ter) n.474G>A | |
| 6 | g.15637791A>C | CA362869614 | DTNBP1 | c.175T>G (p.Trp59Gly) c.124T>G (p.Trp42Gly) c.*173T>G (n.*173T>G) c.*85T>G (n.*85T>G) c.70T>G (p.Trp24Gly) c.-69T>G (n.-69T>G) n.503T>G c.136T>G (p.Trp46Gly) c.85T>G (p.Trp29Gly) n.473T>G | |
| 6 | g.15637791A>G | CA362869615 | DTNBP1 | c.175T>C (p.Trp59Arg) c.124T>C (p.Trp42Arg) c.*173T>C (n.*173T>C) c.*85T>C (n.*85T>C) c.70T>C (p.Trp24Arg) c.-69T>C (n.-69T>C) n.503T>C c.136T>C (p.Trp46Arg) c.85T>C (p.Trp29Arg) n.473T>C | gnomAD v4 |
| 6 | g.15637791A>T | CA362869616 | DTNBP1 | c.175T>A (p.Trp59Arg) c.124T>A (p.Trp42Arg) c.*173T>A (n.*173T>A) c.*85T>A (n.*85T>A) c.70T>A (p.Trp24Arg) c.-69T>A (n.-69T>A) n.503T>A c.136T>A (p.Trp46Arg) c.85T>A (p.Trp29Arg) n.473T>A | |
| 6 | g.15637792T>A | CA448828053 | DTNBP1 | c.174A>T (p.Thr58=) c.123A>T (p.Thr41=) c.*172A>T (n.*172A>T) c.*84A>T (n.*84A>T) c.69A>T (p.Thr23=) c.-70A>T (n.-70A>T) n.502A>T c.135A>T (p.Thr45=) c.84A>T (p.Thr28=) n.472A>T | |
| 6 | g.15637792T>C | CA448828055 | DTNBP1 | c.174A>G (p.Thr58=) c.123A>G (p.Thr41=) c.*172A>G (n.*172A>G) c.*84A>G (n.*84A>G) c.69A>G (p.Thr23=) c.-70A>G (n.-70A>G) n.502A>G c.135A>G (p.Thr45=) c.84A>G (p.Thr28=) n.472A>G | ClinVar |
| 6 | g.15637792T>G | CA448828056 | DTNBP1 | c.174A>C (p.Thr58=) c.123A>C (p.Thr41=) c.*172A>C (n.*172A>C) c.*84A>C (n.*84A>C) c.69A>C (p.Thr23=) c.-70A>C (n.-70A>C) n.502A>C c.135A>C (p.Thr45=) c.84A>C (p.Thr28=) n.472A>C | |
| 6 | g.15637793G>A | CA362869617 | DTNBP1 | c.173C>T (p.Thr58Ile) c.122C>T (p.Thr41Ile) c.*171C>T (n.*171C>T) c.*83C>T (n.*83C>T) c.68C>T (p.Thr23Ile) c.-71C>T (n.-71C>T) n.501C>T c.134C>T (p.Thr45Ile) c.83C>T (p.Thr28Ile) n.471C>T | gnomAD v4 |
| 6 | g.15637793G>C | CA362869618 | DTNBP1 | c.173C>G (p.Thr58Arg) c.122C>G (p.Thr41Arg) c.*171C>G (n.*171C>G) c.*83C>G (n.*83C>G) c.68C>G (p.Thr23Arg) c.-71C>G (n.-71C>G) n.501C>G c.134C>G (p.Thr45Arg) c.83C>G (p.Thr28Arg) n.471C>G | |
| 6 | g.15637793G>T | CA362869619 | DTNBP1 | c.173C>A (p.Thr58Lys) c.122C>A (p.Thr41Lys) c.*171C>A (n.*171C>A) c.*83C>A (n.*83C>A) c.68C>A (p.Thr23Lys) c.-71C>A (n.-71C>A) n.501C>A c.134C>A (p.Thr45Lys) c.83C>A (p.Thr28Lys) n.471C>A | |
| 6 | g.15637794T>A | CA362869620 | DTNBP1 | c.172A>T (p.Thr58Ser) c.121A>T (p.Thr41Ser) c.*170A>T (n.*170A>T) c.*82A>T (n.*82A>T) c.67A>T (p.Thr23Ser) c.-72A>T (n.-72A>T) n.500A>T c.133A>T (p.Thr45Ser) c.82A>T (p.Thr28Ser) n.470A>T | |
| 6 | g.15637794T>C | CA362869621 | DTNBP1 | c.172A>G (p.Thr58Ala) c.121A>G (p.Thr41Ala) c.*170A>G (n.*170A>G) c.*82A>G (n.*82A>G) c.67A>G (p.Thr23Ala) c.-72A>G (n.-72A>G) n.500A>G c.133A>G (p.Thr45Ala) c.82A>G (p.Thr28Ala) n.470A>G | |
| 6 | g.15637794T>G | CA362869622 | DTNBP1 | c.172A>C (p.Thr58Pro) c.121A>C (p.Thr41Pro) c.*170A>C (n.*170A>C) c.*82A>C (n.*82A>C) c.67A>C (p.Thr23Pro) c.-72A>C (n.-72A>C) n.500A>C c.133A>C (p.Thr45Pro) c.82A>C (p.Thr28Pro) n.470A>C | |
| 6 | g.15637795A= | CA1612359705 | DTNBP1 | c.171T= (p.Asp57=) c.120T= (p.Asp40=) c.*169T= (n.*169T=) c.*81T= (n.*81T=) c.66T= (p.Asp22=) c.-73T= (n.-73T=) n.499T= c.132T= (p.Asp44=) c.81T= (p.Asp27=) n.469T= | |
| 6 | g.15637795A>C | CA362869623 | DTNBP1 | c.171T>G (p.Asp57Glu) c.120T>G (p.Asp40Glu) c.*169T>G (n.*169T>G) c.*81T>G (n.*81T>G) c.66T>G (p.Asp22Glu) c.-73T>G (n.-73T>G) n.499T>G c.132T>G (p.Asp44Glu) c.81T>G (p.Asp27Glu) n.469T>G | |
| 6 | g.15637795A>G | CA448828058 | DTNBP1 | c.171T>C (p.Asp57=) c.120T>C (p.Asp40=) c.*169T>C (n.*169T>C) c.*81T>C (n.*81T>C) c.66T>C (p.Asp22=) c.-73T>C (n.-73T>C) n.499T>C c.132T>C (p.Asp44=) c.81T>C (p.Asp27=) n.469T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.15637795A>T | CA362869624 | DTNBP1 | c.171T>A (p.Asp57Glu) c.120T>A (p.Asp40Glu) c.*169T>A (n.*169T>A) c.*81T>A (n.*81T>A) c.66T>A (p.Asp22Glu) c.-73T>A (n.-73T>A) n.499T>A c.132T>A (p.Asp44Glu) c.81T>A (p.Asp27Glu) n.469T>A | |
| 6 | g.15637796T>A | CA362869626 | DTNBP1 | c.170A>T (p.Asp57Val) c.119A>T (p.Asp40Val) c.*168A>T (n.*168A>T) c.*80A>T (n.*80A>T) c.65A>T (p.Asp22Val) c.-74A>T (n.-74A>T) n.498A>T c.131A>T (p.Asp44Val) c.80A>T (p.Asp27Val) n.468A>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.15637796T>C | CA362869627 | DTNBP1 | c.170A>G (p.Asp57Gly) c.119A>G (p.Asp40Gly) c.*168A>G (n.*168A>G) c.*80A>G (n.*80A>G) c.65A>G (p.Asp22Gly) c.-74A>G (n.-74A>G) n.498A>G c.131A>G (p.Asp44Gly) c.80A>G (p.Asp27Gly) n.468A>G | |
| 6 | g.15637796T>G | CA362869625 | DTNBP1 | c.170A>C (p.Asp57Ala) c.119A>C (p.Asp40Ala) c.*168A>C (n.*168A>C) c.*80A>C (n.*80A>C) c.65A>C (p.Asp22Ala) c.-74A>C (n.-74A>C) n.498A>C c.131A>C (p.Asp44Ala) c.80A>C (p.Asp27Ala) n.468A>C | gnomAD v4 |
| 6 | g.15637797C>A | CA362869628 | DTNBP1 | c.169G>T (p.Asp57Tyr) c.118G>T (p.Asp40Tyr) c.*167G>T (n.*167G>T) c.*79G>T (n.*79G>T) c.64G>T (p.Asp22Tyr) c.-75G>T (n.-75G>T) n.497G>T c.130G>T (p.Asp44Tyr) c.79G>T (p.Asp27Tyr) n.467G>T | |
| 6 | g.15637797C= | CA1612359707 | DTNBP1 | c.169G= (p.Asp57=) c.118G= (p.Asp40=) c.*167G= (n.*167G=) c.*79G= (n.*79G=) c.64G= (p.Asp22=) c.-75G= (n.-75G=) n.497G= c.130G= (p.Asp44=) c.79G= (p.Asp27=) n.467G= | |
| 6 | g.15637797C>G | CA362869629 | DTNBP1 | c.169G>C (p.Asp57His) c.118G>C (p.Asp40His) c.*167G>C (n.*167G>C) c.*79G>C (n.*79G>C) c.64G>C (p.Asp22His) c.-75G>C (n.-75G>C) n.497G>C c.130G>C (p.Asp44His) c.79G>C (p.Asp27His) n.467G>C | |
| 6 | g.15637797C>T | CA3644217 | DTNBP1 | c.169G>A (p.Asp57Asn) c.118G>A (p.Asp40Asn) c.*167G>A (n.*167G>A) c.*79G>A (n.*79G>A) c.64G>A (p.Asp22Asn) c.-75G>A (n.-75G>A) n.497G>A c.130G>A (p.Asp44Asn) c.79G>A (p.Asp27Asn) n.467G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.15637798C>A | CA135265939 | DTNBP1 | c.168G>T (p.Glu56Asp) c.117G>T (p.Glu39Asp) c.*166G>T (n.*166G>T) c.*78G>T (n.*78G>T) c.63G>T (p.Glu21Asp) c.-76G>T (n.-76G>T) n.496G>T c.129G>T (p.Glu43Asp) c.78G>T (p.Glu26Asp) n.466G>T | dbSNP |
| 6 | g.15637798C= | CA1612359711 | DTNBP1 | c.168G= (p.Glu56=) c.117G= (p.Glu39=) c.*166G= (n.*166G=) c.*78G= (n.*78G=) c.63G= (p.Glu21=) c.-76G= (n.-76G=) n.496G= c.129G= (p.Glu43=) c.78G= (p.Glu26=) n.466G= | |
| 6 | g.15637798C>G | CA362869630 | DTNBP1 | c.168G>C (p.Glu56Asp) c.117G>C (p.Glu39Asp) c.*166G>C (n.*166G>C) c.*78G>C (n.*78G>C) c.63G>C (p.Glu21Asp) c.-76G>C (n.-76G>C) n.496G>C c.129G>C (p.Glu43Asp) c.78G>C (p.Glu26Asp) n.466G>C | |
| 6 | g.15637798C>T | CA448828062 | DTNBP1 | c.168G>A (p.Glu56=) c.117G>A (p.Glu39=) c.*166G>A (n.*166G>A) c.*78G>A (n.*78G>A) c.63G>A (p.Glu21=) c.-76G>A (n.-76G>A) n.496G>A c.129G>A (p.Glu43=) c.78G>A (p.Glu26=) n.466G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.15637799T>A | CA362869633 | DTNBP1 | c.167A>T (p.Glu56Val) c.116A>T (p.Glu39Val) c.*165A>T (n.*165A>T) c.*77A>T (n.*77A>T) c.62A>T (p.Glu21Val) c.-77A>T (n.-77A>T) n.495A>T c.128A>T (p.Glu43Val) c.77A>T (p.Glu26Val) n.465A>T | |
| 6 | g.15637799T>C | CA362869631 | DTNBP1 | c.167A>G (p.Glu56Gly) c.116A>G (p.Glu39Gly) c.*165A>G (n.*165A>G) c.*77A>G (n.*77A>G) c.62A>G (p.Glu21Gly) c.-77A>G (n.-77A>G) n.495A>G c.128A>G (p.Glu43Gly) c.77A>G (p.Glu26Gly) n.465A>G | |
| 6 | g.15637799T>G | CA362869632 | DTNBP1 | c.167A>C (p.Glu56Ala) c.116A>C (p.Glu39Ala) c.*165A>C (n.*165A>C) c.*77A>C (n.*77A>C) c.62A>C (p.Glu21Ala) c.-77A>C (n.-77A>C) n.495A>C c.128A>C (p.Glu43Ala) c.77A>C (p.Glu26Ala) n.465A>C | dbSNP |
| 6 | g.15637799T= | CA1612359714 | DTNBP1 | c.167A= (p.Glu56=) c.116A= (p.Glu39=) c.*165A= (n.*165A=) c.*77A= (n.*77A=) c.62A= (p.Glu21=) c.-77A= (n.-77A=) n.495A= c.128A= (p.Glu43=) c.77A= (p.Glu26=) n.465A= | |
| 6 | g.15637800C>A | CA362869634 | DTNBP1 | c.166G>T (p.Glu56Ter) c.115G>T (p.Glu39Ter) c.*164G>T (n.*164G>T) c.*76G>T (n.*76G>T) c.61G>T (p.Glu21Ter) c.-78G>T (n.-78G>T) n.494G>T c.127G>T (p.Glu43Ter) c.76G>T (p.Glu26Ter) n.464G>T | |
| 6 | g.15637800C= | CA1612359720 | DTNBP1 | c.166G= (p.Glu56=) c.115G= (p.Glu39=) c.*164G= (n.*164G=) c.*76G= (n.*76G=) c.61G= (p.Glu21=) c.-78G= (n.-78G=) n.494G= c.127G= (p.Glu43=) c.76G= (p.Glu26=) n.464G= | |
| 6 | g.15637800C>G | CA362869635 | DTNBP1 | c.166G>C (p.Glu56Gln) c.115G>C (p.Glu39Gln) c.*164G>C (n.*164G>C) c.*76G>C (n.*76G>C) c.61G>C (p.Glu21Gln) c.-78G>C (n.-78G>C) n.494G>C c.127G>C (p.Glu43Gln) c.76G>C (p.Glu26Gln) n.464G>C | |
| 6 | g.15637800C>T | CA362869636 | DTNBP1 | c.166G>A (p.Glu56Lys) c.115G>A (p.Glu39Lys) c.*164G>A (n.*164G>A) c.*76G>A (n.*76G>A) c.61G>A (p.Glu21Lys) c.-78G>A (n.-78G>A) n.494G>A c.127G>A (p.Glu43Lys) c.76G>A (p.Glu26Lys) n.464G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.15637800_15637801insGATA | CA565717315 | DTNBP1 | c.165_166insTATC (p.Glu56TyrfsTer24) c.114_115insTATC (p.Glu39TyrfsTer24) c.*163_*164insTATC (n.*163_*164insTATC) c.*75_*76insTATC (n.*75_*76insTATC) c.60_61insTATC (p.Glu21TyrfsTer24) c.-79_-78insTATC (n.-79_-78insTATC) n.493_494insTATC c.126_127insTATC (p.Glu43TyrfsTer24) c.75_76insTATC (p.Glu26TyrfsTer24) n.463_464insTATC | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.15637801A>C | CA362869637 | DTNBP1 | c.165T>G (p.Tyr55Ter) c.114T>G (p.Tyr38Ter) c.*163T>G (n.*163T>G) c.*75T>G (n.*75T>G) c.60T>G (p.Tyr20Ter) c.-79T>G (n.-79T>G) n.493T>G c.126T>G (p.Tyr42Ter) c.75T>G (p.Tyr25Ter) n.463T>G | |
| 6 | g.15637801A>G | CA448828065 | DTNBP1 | c.165T>C (p.Tyr55=) c.114T>C (p.Tyr38=) c.*163T>C (n.*163T>C) c.*75T>C (n.*75T>C) c.60T>C (p.Tyr20=) c.-79T>C (n.-79T>C) n.493T>C c.126T>C (p.Tyr42=) c.75T>C (p.Tyr25=) n.463T>C | COSMIC COSMIC COSMIC |
| 6 | g.15637801A>T | CA362869638 | DTNBP1 | c.165T>A (p.Tyr55Ter) c.114T>A (p.Tyr38Ter) c.*163T>A (n.*163T>A) c.*75T>A (n.*75T>A) c.60T>A (p.Tyr20Ter) c.-79T>A (n.-79T>A) n.493T>A c.126T>A (p.Tyr42Ter) c.75T>A (p.Tyr25Ter) n.463T>A | |
| 6 | g.15637802del | CA2573140130 | DTNBP1 | c.164del (p.Tyr55LeufsTer?) c.113del (p.Tyr38LeufsTer?) c.*162del (n.*162del) c.*74del (n.*74del) c.59del (p.Tyr20LeufsTer?) c.-80del (n.-80del) n.492del c.125del (p.Tyr42LeufsTer?) c.74del (p.Tyr25LeufsTer?) n.462del | ClinVar dbSNP |
| 6 | g.15637802T>A | CA362869639 | DTNBP1 | c.164A>T (p.Tyr55Phe) c.113A>T (p.Tyr38Phe) c.*162A>T (n.*162A>T) c.*74A>T (n.*74A>T) c.59A>T (p.Tyr20Phe) c.-80A>T (n.-80A>T) n.492A>T c.125A>T (p.Tyr42Phe) c.74A>T (p.Tyr25Phe) n.462A>T | |
| 6 | g.15637802T>C | CA362869641 | DTNBP1 | c.164A>G (p.Tyr55Cys) c.113A>G (p.Tyr38Cys) c.*162A>G (n.*162A>G) c.*74A>G (n.*74A>G) c.59A>G (p.Tyr20Cys) c.-80A>G (n.-80A>G) n.492A>G c.125A>G (p.Tyr42Cys) c.74A>G (p.Tyr25Cys) n.462A>G | gnomAD v4 |
| 6 | g.15637802T>G | CA362869640 | DTNBP1 | c.164A>C (p.Tyr55Ser) c.113A>C (p.Tyr38Ser) c.*162A>C (n.*162A>C) c.*74A>C (n.*74A>C) c.59A>C (p.Tyr20Ser) c.-80A>C (n.-80A>C) n.492A>C c.125A>C (p.Tyr42Ser) c.74A>C (p.Tyr25Ser) n.462A>C | |
| 6 | g.15637803A>C | CA362869642 | DTNBP1 | c.163T>G (p.Tyr55Asp) c.112T>G (p.Tyr38Asp) c.*161T>G (n.*161T>G) c.*73T>G (n.*73T>G) c.58T>G (p.Tyr20Asp) c.-81T>G (n.-81T>G) n.491T>G c.124T>G (p.Tyr42Asp) c.73T>G (p.Tyr25Asp) n.461T>G | |
| 6 | g.15637803A>G | CA362869643 | DTNBP1 | c.163T>C (p.Tyr55His) c.112T>C (p.Tyr38His) c.*161T>C (n.*161T>C) c.*73T>C (n.*73T>C) c.58T>C (p.Tyr20His) c.-81T>C (n.-81T>C) n.491T>C c.124T>C (p.Tyr42His) c.73T>C (p.Tyr25His) n.461T>C | gnomAD v4 |
| 6 | g.15637803A>T | CA362869644 | DTNBP1 | c.163T>A (p.Tyr55Asn) c.112T>A (p.Tyr38Asn) c.*161T>A (n.*161T>A) c.*73T>A (n.*73T>A) c.58T>A (p.Tyr20Asn) c.-81T>A (n.-81T>A) n.491T>A c.124T>A (p.Tyr42Asn) c.73T>A (p.Tyr25Asn) n.461T>A |