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 |
|---|---|---|---|---|---|
| 2 | g.151563987_151567372del | CA915942821 | NEB | c.804_1323-56del c.17953_18472-56del c.12850_13369-56del c.2143_2662-56del c.17224_17743-56del c.15037_15556-56del c.15766_16285-56del c.13579_14098-56del | ClinVar |
| 2 | g.151567211T>A | CA348802934 | NEB | c.964A>T c.18113A>T (p.Asn6038Ile) c.13010A>T (p.Asn4337Ile) c.2303A>T (p.Asn768Ile) c.17384A>T (p.Asn5795Ile) c.15197A>T (p.Asn5066Ile) c.15926A>T (p.Asn5309Ile) c.13739A>T (p.Asn4580Ile) | |
| 2 | g.151567211T>C | CA153896 | NEB | c.964A>G c.18113A>G (p.Asn6038Ser) c.13010A>G (p.Asn4337Ser) c.2303A>G (p.Asn768Ser) c.17384A>G (p.Asn5795Ser) c.15197A>G (p.Asn5066Ser) c.15926A>G (p.Asn5309Ser) c.13739A>G (p.Asn4580Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151567211T>G | CA348802932 | NEB | c.964A>C c.18113A>C (p.Asn6038Thr) c.13010A>C (p.Asn4337Thr) c.2303A>C (p.Asn768Thr) c.17384A>C (p.Asn5795Thr) c.15197A>C (p.Asn5066Thr) c.15926A>C (p.Asn5309Thr) c.13739A>C (p.Asn4580Thr) | |
| 2 | g.151567211T= | CA1298181189 | NEB | c.964A= c.18113A= (p.Asn6038=) c.13010A= (p.Asn4337=) c.2303A= (p.Asn768=) c.17384A= (p.Asn5795=) c.15197A= (p.Asn5066=) c.15926A= (p.Asn5309=) c.13739A= (p.Asn4580=) | |
| 2 | g.151567212T>A | CA348802939 | NEB | c.963A>T c.18112A>T (p.Asn6038Tyr) c.13009A>T (p.Asn4337Tyr) c.2302A>T (p.Asn768Tyr) c.17383A>T (p.Asn5795Tyr) c.15196A>T (p.Asn5066Tyr) c.15925A>T (p.Asn5309Tyr) c.13738A>T (p.Asn4580Tyr) | |
| 2 | g.151567212T>C | CA348802941 | NEB | c.963A>G c.18112A>G (p.Asn6038Asp) c.13009A>G (p.Asn4337Asp) c.2302A>G (p.Asn768Asp) c.17383A>G (p.Asn5795Asp) c.15196A>G (p.Asn5066Asp) c.15925A>G (p.Asn5309Asp) c.13738A>G (p.Asn4580Asp) | |
| 2 | g.151567212T>G | CA348802942 | NEB | c.963A>C c.18112A>C (p.Asn6038His) c.13009A>C (p.Asn4337His) c.2302A>C (p.Asn768His) c.17383A>C (p.Asn5795His) c.15196A>C (p.Asn5066His) c.15925A>C (p.Asn5309His) c.13738A>C (p.Asn4580His) | |
| 2 | g.151567213C>A | CA348802944 | NEB | c.962G>T c.18111G>T (p.Gln6037His) c.13008G>T (p.Gln4336His) c.2301G>T (p.Gln767His) c.17382G>T (p.Gln5794His) c.15195G>T (p.Gln5065His) c.15924G>T (p.Gln5308His) c.13737G>T (p.Gln4579His) | |
| 2 | g.151567213C>G | CA348802946 | NEB | c.962G>C c.18111G>C (p.Gln6037His) c.13008G>C (p.Gln4336His) c.2301G>C (p.Gln767His) c.17382G>C (p.Gln5794His) c.15195G>C (p.Gln5065His) c.15924G>C (p.Gln5308His) c.13737G>C (p.Gln4579His) | |
| 2 | g.151567213C>T | CA429240156 | NEB | c.962G>A c.18111G>A (p.Gln6037=) c.13008G>A (p.Gln4336=) c.2301G>A (p.Gln767=) c.17382G>A (p.Gln5794=) c.15195G>A (p.Gln5065=) c.15924G>A (p.Gln5308=) c.13737G>A (p.Gln4579=) | |
| 2 | g.151567214T>A | CA348802952 | NEB | c.961A>T c.18110A>T (p.Gln6037Leu) c.13007A>T (p.Gln4336Leu) c.2300A>T (p.Gln767Leu) c.17381A>T (p.Gln5794Leu) c.15194A>T (p.Gln5065Leu) c.15923A>T (p.Gln5308Leu) c.13736A>T (p.Gln4579Leu) | |
| 2 | g.151567214T>C | CA348802948 | NEB | c.961A>G c.18110A>G (p.Gln6037Arg) c.13007A>G (p.Gln4336Arg) c.2300A>G (p.Gln767Arg) c.17381A>G (p.Gln5794Arg) c.15194A>G (p.Gln5065Arg) c.15923A>G (p.Gln5308Arg) c.13736A>G (p.Gln4579Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151567214T>G | CA348802951 | NEB | c.961A>C c.18110A>C (p.Gln6037Pro) c.13007A>C (p.Gln4336Pro) c.2300A>C (p.Gln767Pro) c.17381A>C (p.Gln5794Pro) c.15194A>C (p.Gln5065Pro) c.15923A>C (p.Gln5308Pro) c.13736A>C (p.Gln4579Pro) | |
| 2 | g.151567214T= | CA1298181190 | NEB | c.961A= c.18110A= (p.Gln6037=) c.13007A= (p.Gln4336=) c.2300A= (p.Gln767=) c.17381A= (p.Gln5794=) c.15194A= (p.Gln5065=) c.15923A= (p.Gln5308=) c.13736A= (p.Gln4579=) | |
| 2 | g.151567215G>A | CA348802954 | NEB | c.960C>T c.18109C>T (p.Gln6037Ter) c.13006C>T (p.Gln4336Ter) c.2299C>T (p.Gln767Ter) c.17380C>T (p.Gln5794Ter) c.15193C>T (p.Gln5065Ter) c.15922C>T (p.Gln5308Ter) c.13735C>T (p.Gln4579Ter) | |
| 2 | g.151567215G>C | CA348802956 | NEB | c.960C>G c.18109C>G (p.Gln6037Glu) c.13006C>G (p.Gln4336Glu) c.2299C>G (p.Gln767Glu) c.17380C>G (p.Gln5794Glu) c.15193C>G (p.Gln5065Glu) c.15922C>G (p.Gln5308Glu) c.13735C>G (p.Gln4579Glu) | |
| 2 | g.151567215G>T | CA348802960 | NEB | c.960C>A c.18109C>A (p.Gln6037Lys) c.13006C>A (p.Gln4336Lys) c.2299C>A (p.Gln767Lys) c.17380C>A (p.Gln5794Lys) c.15193C>A (p.Gln5065Lys) c.15922C>A (p.Gln5308Lys) c.13735C>A (p.Gln4579Lys) | |
| 2 | g.151567216G>A | CA429240158 | NEB | c.959C>T c.18108C>T (p.Asp6036=) c.13005C>T (p.Asp4335=) c.2298C>T (p.Asp766=) c.17379C>T (p.Asp5793=) c.15192C>T (p.Asp5064=) c.15921C>T (p.Asp5307=) c.13734C>T (p.Asp4578=) | |
| 2 | g.151567216G>C | CA348802962 | NEB | c.959C>G c.18108C>G (p.Asp6036Glu) c.13005C>G (p.Asp4335Glu) c.2298C>G (p.Asp766Glu) c.17379C>G (p.Asp5793Glu) c.15192C>G (p.Asp5064Glu) c.15921C>G (p.Asp5307Glu) c.13734C>G (p.Asp4578Glu) | |
| 2 | g.151567216G>T | CA348802963 | NEB | c.959C>A c.18108C>A (p.Asp6036Glu) c.13005C>A (p.Asp4335Glu) c.2298C>A (p.Asp766Glu) c.17379C>A (p.Asp5793Glu) c.15192C>A (p.Asp5064Glu) c.15921C>A (p.Asp5307Glu) c.13734C>A (p.Asp4578Glu) | gnomAD v4 |
| 2 | g.151567217T>A | CA348802966 | NEB | c.958A>T c.18107A>T (p.Asp6036Val) c.13004A>T (p.Asp4335Val) c.2297A>T (p.Asp766Val) c.17378A>T (p.Asp5793Val) c.15191A>T (p.Asp5064Val) c.15920A>T (p.Asp5307Val) c.13733A>T (p.Asp4578Val) | gnomAD v4 |
| 2 | g.151567217T>C | CA348802970 | NEB | c.958A>G c.18107A>G (p.Asp6036Gly) c.13004A>G (p.Asp4335Gly) c.2297A>G (p.Asp766Gly) c.17378A>G (p.Asp5793Gly) c.15191A>G (p.Asp5064Gly) c.15920A>G (p.Asp5307Gly) c.13733A>G (p.Asp4578Gly) | |
| 2 | g.151567217T>G | CA348802968 | NEB | c.958A>C c.18107A>C (p.Asp6036Ala) c.13004A>C (p.Asp4335Ala) c.2297A>C (p.Asp766Ala) c.17378A>C (p.Asp5793Ala) c.15191A>C (p.Asp5064Ala) c.15920A>C (p.Asp5307Ala) c.13733A>C (p.Asp4578Ala) | |
| 2 | g.151567218C>A | CA348802972 | NEB | c.957G>T c.18106G>T (p.Asp6036Tyr) c.13003G>T (p.Asp4335Tyr) c.2296G>T (p.Asp766Tyr) c.17377G>T (p.Asp5793Tyr) c.15190G>T (p.Asp5064Tyr) c.15919G>T (p.Asp5307Tyr) c.13732G>T (p.Asp4578Tyr) | |
| 2 | g.151567218C= | CA1298181191 | NEB | c.957G= c.18106G= (p.Asp6036=) c.13003G= (p.Asp4335=) c.2296G= (p.Asp766=) c.17377G= (p.Asp5793=) c.15190G= (p.Asp5064=) c.15919G= (p.Asp5307=) c.13732G= (p.Asp4578=) | |
| 2 | g.151567218C>G | CA348802973 | NEB | c.957G>C c.18106G>C (p.Asp6036His) c.13003G>C (p.Asp4335His) c.2296G>C (p.Asp766His) c.17377G>C (p.Asp5793His) c.15190G>C (p.Asp5064His) c.15919G>C (p.Asp5307His) c.13732G>C (p.Asp4578His) | ClinVar gnomAD v4 |
| 2 | g.151567218C>T | CA348802974 | NEB | c.957G>A c.18106G>A (p.Asp6036Asn) c.13003G>A (p.Asp4335Asn) c.2296G>A (p.Asp766Asn) c.17377G>A (p.Asp5793Asn) c.15190G>A (p.Asp5064Asn) c.15919G>A (p.Asp5307Asn) c.13732G>A (p.Asp4578Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151567219A>C | CA429240160 | NEB | c.956T>G c.18105T>G (p.Pro6035=) c.13002T>G (p.Pro4334=) c.2295T>G (p.Pro765=) c.17376T>G (p.Pro5792=) c.15189T>G (p.Pro5063=) c.15918T>G (p.Pro5306=) c.13731T>G (p.Pro4577=) | |
| 2 | g.151567219A>G | CA429240161 | NEB | c.956T>C c.18105T>C (p.Pro6035=) c.13002T>C (p.Pro4334=) c.2295T>C (p.Pro765=) c.17376T>C (p.Pro5792=) c.15189T>C (p.Pro5063=) c.15918T>C (p.Pro5306=) c.13731T>C (p.Pro4577=) | |
| 2 | g.151567219A>T | CA429240162 | NEB | c.956T>A c.18105T>A (p.Pro6035=) c.13002T>A (p.Pro4334=) c.2295T>A (p.Pro765=) c.17376T>A (p.Pro5792=) c.15189T>A (p.Pro5063=) c.15918T>A (p.Pro5306=) c.13731T>A (p.Pro4577=) | |
| 2 | g.151567220G>A | CA348802975 | NEB | c.955C>T c.18104C>T (p.Pro6035Leu) c.13001C>T (p.Pro4334Leu) c.2294C>T (p.Pro765Leu) c.17375C>T (p.Pro5792Leu) c.15188C>T (p.Pro5063Leu) c.15917C>T (p.Pro5306Leu) c.13730C>T (p.Pro4577Leu) | gnomAD v4 |
| 2 | g.151567220G>C | CA348802976 | NEB | c.955C>G c.18104C>G (p.Pro6035Arg) c.13001C>G (p.Pro4334Arg) c.2294C>G (p.Pro765Arg) c.17375C>G (p.Pro5792Arg) c.15188C>G (p.Pro5063Arg) c.15917C>G (p.Pro5306Arg) c.13730C>G (p.Pro4577Arg) | |
| 2 | g.151567220G>T | CA348802977 | NEB | c.955C>A c.18104C>A (p.Pro6035His) c.13001C>A (p.Pro4334His) c.2294C>A (p.Pro765His) c.17375C>A (p.Pro5792His) c.15188C>A (p.Pro5063His) c.15917C>A (p.Pro5306His) c.13730C>A (p.Pro4577His) | |
| 2 | g.151567221G>A | CA348802979 | NEB | c.954C>T c.18103C>T (p.Pro6035Ser) c.13000C>T (p.Pro4334Ser) c.2293C>T (p.Pro765Ser) c.17374C>T (p.Pro5792Ser) c.15187C>T (p.Pro5063Ser) c.15916C>T (p.Pro5306Ser) c.13729C>T (p.Pro4577Ser) | gnomAD v4 |
| 2 | g.151567221G>C | CA348802980 | NEB | c.954C>G c.18103C>G (p.Pro6035Ala) c.13000C>G (p.Pro4334Ala) c.2293C>G (p.Pro765Ala) c.17374C>G (p.Pro5792Ala) c.15187C>G (p.Pro5063Ala) c.15916C>G (p.Pro5306Ala) c.13729C>G (p.Pro4577Ala) | |
| 2 | g.151567221G>T | CA348802983 | NEB | c.954C>A c.18103C>A (p.Pro6035Thr) c.13000C>A (p.Pro4334Thr) c.2293C>A (p.Pro765Thr) c.17374C>A (p.Pro5792Thr) c.15187C>A (p.Pro5063Thr) c.15916C>A (p.Pro5306Thr) c.13729C>A (p.Pro4577Thr) | |
| 2 | g.151567222A>C | CA348802986 | NEB | c.953T>G c.18102T>G (p.His6034Gln) c.12999T>G (p.His4333Gln) c.2292T>G (p.His764Gln) c.17373T>G (p.His5791Gln) c.15186T>G (p.His5062Gln) c.15915T>G (p.His5305Gln) c.13728T>G (p.His4576Gln) | |
| 2 | g.151567222A>G | CA429240167 | NEB | c.953T>C c.18102T>C (p.His6034=) c.12999T>C (p.His4333=) c.2292T>C (p.His764=) c.17373T>C (p.His5791=) c.15186T>C (p.His5062=) c.15915T>C (p.His5305=) c.13728T>C (p.His4576=) | ClinVar dbSNP |
| 2 | g.151567222A>T | CA348802988 | NEB | c.953T>A c.18102T>A (p.His6034Gln) c.12999T>A (p.His4333Gln) c.2292T>A (p.His764Gln) c.17373T>A (p.His5791Gln) c.15186T>A (p.His5062Gln) c.15915T>A (p.His5305Gln) c.13728T>A (p.His4576Gln) | |
| 2 | g.151567223T>A | CA348802994 | NEB | c.952A>T c.18101A>T (p.His6034Leu) c.12998A>T (p.His4333Leu) c.2291A>T (p.His764Leu) c.17372A>T (p.His5791Leu) c.15185A>T (p.His5062Leu) c.15914A>T (p.His5305Leu) c.13727A>T (p.His4576Leu) | |
| 2 | g.151567223T>C | CA348802991 | NEB | c.952A>G c.18101A>G (p.His6034Arg) c.12998A>G (p.His4333Arg) c.2291A>G (p.His764Arg) c.17372A>G (p.His5791Arg) c.15185A>G (p.His5062Arg) c.15914A>G (p.His5305Arg) c.13727A>G (p.His4576Arg) | |
| 2 | g.151567223T>G | CA348802989 | NEB | c.952A>C c.18101A>C (p.His6034Pro) c.12998A>C (p.His4333Pro) c.2291A>C (p.His764Pro) c.17372A>C (p.His5791Pro) c.15185A>C (p.His5062Pro) c.15914A>C (p.His5305Pro) c.13727A>C (p.His4576Pro) | |
| 2 | g.151567224G>A | CA348802998 | NEB | c.951C>T c.18100C>T (p.His6034Tyr) c.12997C>T (p.His4333Tyr) c.2290C>T (p.His764Tyr) c.17371C>T (p.His5791Tyr) c.15184C>T (p.His5062Tyr) c.15913C>T (p.His5305Tyr) c.13726C>T (p.His4576Tyr) | gnomAD v4 |
| 2 | g.151567224G>C | CA348803001 | NEB | c.951C>G c.18100C>G (p.His6034Asp) c.12997C>G (p.His4333Asp) c.2290C>G (p.His764Asp) c.17371C>G (p.His5791Asp) c.15184C>G (p.His5062Asp) c.15913C>G (p.His5305Asp) c.13726C>G (p.His4576Asp) | |
| 2 | g.151567224G>T | CA348802999 | NEB | c.951C>A c.18100C>A (p.His6034Asn) c.12997C>A (p.His4333Asn) c.2290C>A (p.His764Asn) c.17371C>A (p.His5791Asn) c.15184C>A (p.His5062Asn) c.15913C>A (p.His5305Asn) c.13726C>A (p.His4576Asn) | |
| 2 | g.151567225A>C | CA348803003 | NEB | c.950T>G c.18099T>G (p.Cys6033Trp) c.12996T>G (p.Cys4332Trp) c.2289T>G (p.Cys763Trp) c.17370T>G (p.Cys5790Trp) c.15183T>G (p.Cys5061Trp) c.15912T>G (p.Cys5304Trp) c.13725T>G (p.Cys4575Trp) | |
| 2 | g.151567225A>G | CA429240169 | NEB | c.950T>C c.18099T>C (p.Cys6033=) c.12996T>C (p.Cys4332=) c.2289T>C (p.Cys763=) c.17370T>C (p.Cys5790=) c.15183T>C (p.Cys5061=) c.15912T>C (p.Cys5304=) c.13725T>C (p.Cys4575=) | |
| 2 | g.151567225A>T | CA348803005 | NEB | c.950T>A c.18099T>A (p.Cys6033Ter) c.12996T>A (p.Cys4332Ter) c.2289T>A (p.Cys763Ter) c.17370T>A (p.Cys5790Ter) c.15183T>A (p.Cys5061Ter) c.15912T>A (p.Cys5304Ter) c.13725T>A (p.Cys4575Ter) | |
| 2 | g.151567226C>A | CA348803007 | NEB | c.949G>T c.18098G>T (p.Cys6033Phe) c.12995G>T (p.Cys4332Phe) c.2288G>T (p.Cys763Phe) c.17369G>T (p.Cys5790Phe) c.15182G>T (p.Cys5061Phe) c.15911G>T (p.Cys5304Phe) c.13724G>T (p.Cys4575Phe) |