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 |
|---|---|---|---|---|---|
| 12 | g.115970606T>A | CA386876095 | MED13L | c.6055A>T (p.Ser2019Cys) n.2269A>T n.4423A>T n.5819A>T n.4240A>T n.4066A>T c.4239A>T c.2544A>T c.6091A>T (p.Ser2031Cys) c.6088A>T (p.Ser2030Cys) c.6061A>T (p.Ser2021Cys) c.6052A>T (p.Ser2018Cys) | |
| 12 | g.115970606T>C | CA386876097 | MED13L | c.6055A>G (p.Ser2019Gly) n.2269A>G n.4423A>G n.5819A>G n.4240A>G n.4066A>G c.4239A>G c.2544A>G c.6091A>G (p.Ser2031Gly) c.6088A>G (p.Ser2030Gly) c.6061A>G (p.Ser2021Gly) c.6052A>G (p.Ser2018Gly) | |
| 12 | g.115970606T>G | CA386876096 | MED13L | c.6055A>C (p.Ser2019Arg) n.2269A>C n.4423A>C n.5819A>C n.4240A>C n.4066A>C c.4239A>C c.2544A>C c.6091A>C (p.Ser2031Arg) c.6088A>C (p.Ser2030Arg) c.6061A>C (p.Ser2021Arg) c.6052A>C (p.Ser2018Arg) | |
| 12 | g.115970607A= | CA2065410884 | MED13L | c.6054T= (p.Phe2018=) n.2268T= n.4422T= n.5818T= n.4239T= n.4065T= c.4238T= c.2543T= c.6090T= (p.Phe2030=) c.6087T= (p.Phe2029=) c.6060T= (p.Phe2020=) c.6051T= (p.Phe2017=) | |
| 12 | g.115970607A>C | CA386876098 | MED13L | c.6054T>G (p.Phe2018Leu) n.2268T>G n.4422T>G n.5818T>G n.4239T>G n.4065T>G c.4238T>G c.2543T>G c.6090T>G (p.Phe2030Leu) c.6087T>G (p.Phe2029Leu) c.6060T>G (p.Phe2020Leu) c.6051T>G (p.Phe2017Leu) | |
| 12 | g.115970607A>G | CA481943136 | MED13L | c.6054T>C (p.Phe2018=) n.2268T>C n.4422T>C n.5818T>C n.4239T>C n.4065T>C c.4238T>C c.2543T>C c.6090T>C (p.Phe2030=) c.6087T>C (p.Phe2029=) c.6060T>C (p.Phe2020=) c.6051T>C (p.Phe2017=) | |
| 12 | g.115970607A>T | CA244133037 | MED13L | c.6054T>A (p.Phe2018Leu) n.2268T>A n.4422T>A n.5818T>A n.4239T>A n.4065T>A c.4238T>A c.2543T>A c.6090T>A (p.Phe2030Leu) c.6087T>A (p.Phe2029Leu) c.6060T>A (p.Phe2020Leu) c.6051T>A (p.Phe2017Leu) | dbSNP |
| 12 | g.115970608A>C | CA386876099 | MED13L | c.6053T>G (p.Phe2018Cys) n.2267T>G n.4421T>G n.5817T>G n.4238T>G n.4064T>G c.4237T>G c.2542T>G c.6089T>G (p.Phe2030Cys) c.6086T>G (p.Phe2029Cys) c.6059T>G (p.Phe2020Cys) c.6050T>G (p.Phe2017Cys) | |
| 12 | g.115970608A>G | CA386876100 | MED13L | c.6053T>C (p.Phe2018Ser) n.2267T>C n.4421T>C n.5817T>C n.4238T>C n.4064T>C c.4237T>C c.2542T>C c.6089T>C (p.Phe2030Ser) c.6086T>C (p.Phe2029Ser) c.6059T>C (p.Phe2020Ser) c.6050T>C (p.Phe2017Ser) | |
| 12 | g.115970608A>T | CA386876101 | MED13L | c.6053T>A (p.Phe2018Tyr) n.2267T>A n.4421T>A n.5817T>A n.4238T>A n.4064T>A c.4237T>A c.2542T>A c.6089T>A (p.Phe2030Tyr) c.6086T>A (p.Phe2029Tyr) c.6059T>A (p.Phe2020Tyr) c.6050T>A (p.Phe2017Tyr) | |
| 12 | g.115970609A>C | CA386876102 | MED13L | c.6052T>G (p.Phe2018Val) n.2266T>G n.4420T>G n.5816T>G n.4237T>G n.4063T>G c.4236T>G c.2541T>G c.6088T>G (p.Phe2030Val) c.6085T>G (p.Phe2029Val) c.6058T>G (p.Phe2020Val) c.6049T>G (p.Phe2017Val) | |
| 12 | g.115970609A>G | CA386876103 | MED13L | c.6052T>C (p.Phe2018Leu) n.2266T>C n.4420T>C n.5816T>C n.4237T>C n.4063T>C c.4236T>C c.2541T>C c.6088T>C (p.Phe2030Leu) c.6085T>C (p.Phe2029Leu) c.6058T>C (p.Phe2020Leu) c.6049T>C (p.Phe2017Leu) | |
| 12 | g.115970609A>T | CA386876104 | MED13L | c.6052T>A (p.Phe2018Ile) n.2266T>A n.4420T>A n.5816T>A n.4237T>A n.4063T>A c.4236T>A c.2541T>A c.6088T>A (p.Phe2030Ile) c.6085T>A (p.Phe2029Ile) c.6058T>A (p.Phe2020Ile) c.6049T>A (p.Phe2017Ile) | |
| 12 | g.115970610C>A | CA481943138 | MED13L | c.6051G>T (p.Gly2017=) n.2265G>T n.4419G>T n.5815G>T n.4236G>T n.4062G>T c.4235G>T c.2540G>T c.6087G>T (p.Gly2029=) c.6084G>T (p.Gly2028=) c.6057G>T (p.Gly2019=) c.6048G>T (p.Gly2016=) | |
| 12 | g.115970610C= | CA2065410885 | MED13L | c.6051G= (p.Gly2017=) n.2265G= n.4419G= n.5815G= n.4236G= n.4062G= c.4235G= c.2540G= c.6087G= (p.Gly2029=) c.6084G= (p.Gly2028=) c.6057G= (p.Gly2019=) c.6048G= (p.Gly2016=) | |
| 12 | g.115970610C>G | CA481943139 | MED13L | c.6051G>C (p.Gly2017=) n.2265G>C n.4419G>C n.5815G>C n.4236G>C n.4062G>C c.4235G>C c.2540G>C c.6087G>C (p.Gly2029=) c.6084G>C (p.Gly2028=) c.6057G>C (p.Gly2019=) c.6048G>C (p.Gly2016=) | dbSNP |
| 12 | g.115970610C>T | CA481943140 | MED13L | c.6051G>A (p.Gly2017=) n.2265G>A n.4419G>A n.5815G>A n.4236G>A n.4062G>A c.4235G>A c.2540G>A c.6087G>A (p.Gly2029=) c.6084G>A (p.Gly2028=) c.6057G>A (p.Gly2019=) c.6048G>A (p.Gly2016=) | gnomAD v4 |
| 12 | g.115970611C>A | CA386876105 | MED13L | c.6050G>T (p.Gly2017Val) n.2264G>T n.4418G>T n.5814G>T n.4235G>T n.4061G>T c.4234G>T c.2539G>T c.6086G>T (p.Gly2029Val) c.6083G>T (p.Gly2028Val) c.6056G>T (p.Gly2019Val) c.6047G>T (p.Gly2016Val) | |
| 12 | g.115970611C>G | CA386876106 | MED13L | c.6050G>C (p.Gly2017Ala) n.2264G>C n.4418G>C n.5814G>C n.4235G>C n.4061G>C c.4234G>C c.2539G>C c.6086G>C (p.Gly2029Ala) c.6083G>C (p.Gly2028Ala) c.6056G>C (p.Gly2019Ala) c.6047G>C (p.Gly2016Ala) | |
| 12 | g.115970611C>T | CA386876107 | MED13L | c.6050G>A (p.Gly2017Glu) n.2264G>A n.4418G>A n.5814G>A n.4235G>A n.4061G>A c.4234G>A c.2539G>A c.6086G>A (p.Gly2029Glu) c.6083G>A (p.Gly2028Glu) c.6056G>A (p.Gly2019Glu) c.6047G>A (p.Gly2016Glu) | |
| 12 | g.115970612C>A | CA386876108 | MED13L | c.6049G>T (p.Gly2017Trp) n.2263G>T n.4417G>T n.5813G>T n.4234G>T n.4060G>T c.4233G>T c.2538G>T c.6085G>T (p.Gly2029Trp) c.6082G>T (p.Gly2028Trp) c.6055G>T (p.Gly2019Trp) c.6046G>T (p.Gly2016Trp) | |
| 12 | g.115970612C= | CA2065410886 | MED13L | c.6049G= (p.Gly2017=) n.2263G= n.4417G= n.5813G= n.4234G= n.4060G= c.4233G= c.2538G= c.6085G= (p.Gly2029=) c.6082G= (p.Gly2028=) c.6055G= (p.Gly2019=) c.6046G= (p.Gly2016=) | |
| 12 | g.115970612C>G | CA386876109 | MED13L | c.6049G>C (p.Gly2017Arg) n.2263G>C n.4417G>C n.5813G>C n.4234G>C n.4060G>C c.4233G>C c.2538G>C c.6085G>C (p.Gly2029Arg) c.6082G>C (p.Gly2028Arg) c.6055G>C (p.Gly2019Arg) c.6046G>C (p.Gly2016Arg) | |
| 12 | g.115970612C>T | CA244133044 | MED13L | c.6049G>A (p.Gly2017Arg) n.2263G>A n.4417G>A n.5813G>A n.4234G>A n.4060G>A c.4233G>A c.2538G>A c.6085G>A (p.Gly2029Arg) c.6082G>A (p.Gly2028Arg) c.6055G>A (p.Gly2019Arg) c.6046G>A (p.Gly2016Arg) | dbSNP |
| 12 | g.115970613A= | CA2065410887 | MED13L | c.6048T= (p.Asp2016=) n.2262T= n.4416T= n.5812T= n.4233T= n.4059T= c.4232T= c.2537T= c.6084T= (p.Asp2028=) c.6081T= (p.Asp2027=) c.6054T= (p.Asp2018=) c.6045T= (p.Asp2015=) | |
| 12 | g.115970613A>C | CA386876110 | MED13L | c.6048T>G (p.Asp2016Glu) n.2262T>G n.4416T>G n.5812T>G n.4233T>G n.4059T>G c.4232T>G c.2537T>G c.6084T>G (p.Asp2028Glu) c.6081T>G (p.Asp2027Glu) c.6054T>G (p.Asp2018Glu) c.6045T>G (p.Asp2015Glu) | |
| 12 | g.115970613A>G | CA481943141 | MED13L | c.6048T>C (p.Asp2016=) n.2262T>C n.4416T>C n.5812T>C n.4233T>C n.4059T>C c.4232T>C c.2537T>C c.6084T>C (p.Asp2028=) c.6081T>C (p.Asp2027=) c.6054T>C (p.Asp2018=) c.6045T>C (p.Asp2015=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.115970613A>T | CA386876111 | MED13L | c.6048T>A (p.Asp2016Glu) n.2262T>A n.4416T>A n.5812T>A n.4233T>A n.4059T>A c.4232T>A c.2537T>A c.6084T>A (p.Asp2028Glu) c.6081T>A (p.Asp2027Glu) c.6054T>A (p.Asp2018Glu) c.6045T>A (p.Asp2015Glu) | |
| 12 | g.115970614T>A | CA386876112 | MED13L | c.6047A>T (p.Asp2016Val) n.2261A>T n.4415A>T n.5811A>T n.4232A>T n.4058A>T c.4231A>T c.2536A>T c.6083A>T (p.Asp2028Val) c.6080A>T (p.Asp2027Val) c.6053A>T (p.Asp2018Val) c.6044A>T (p.Asp2015Val) | |
| 12 | g.115970614T>C | CA386876113 | MED13L | c.6047A>G (p.Asp2016Gly) n.2261A>G n.4415A>G n.5811A>G n.4232A>G n.4058A>G c.4231A>G c.2536A>G c.6083A>G (p.Asp2028Gly) c.6080A>G (p.Asp2027Gly) c.6053A>G (p.Asp2018Gly) c.6044A>G (p.Asp2015Gly) | |
| 12 | g.115970614T>G | CA386876114 | MED13L | c.6047A>C (p.Asp2016Ala) n.2261A>C n.4415A>C n.5811A>C n.4232A>C n.4058A>C c.4231A>C c.2536A>C c.6083A>C (p.Asp2028Ala) c.6080A>C (p.Asp2027Ala) c.6053A>C (p.Asp2018Ala) c.6044A>C (p.Asp2015Ala) | |
| 12 | g.115970615C>A | CA386876115 | MED13L | c.6046G>T (p.Asp2016Tyr) n.2260G>T n.4414G>T n.5810G>T n.4231G>T n.4057G>T c.4230G>T c.2535G>T c.6082G>T (p.Asp2028Tyr) c.6079G>T (p.Asp2027Tyr) c.6052G>T (p.Asp2018Tyr) c.6043G>T (p.Asp2015Tyr) | |
| 12 | g.115970615C>G | CA386876116 | MED13L | c.6046G>C (p.Asp2016His) n.2260G>C n.4414G>C n.5810G>C n.4231G>C n.4057G>C c.4230G>C c.2535G>C c.6082G>C (p.Asp2028His) c.6079G>C (p.Asp2027His) c.6052G>C (p.Asp2018His) c.6043G>C (p.Asp2015His) | |
| 12 | g.115970615C>T | CA386876117 | MED13L | c.6046G>A (p.Asp2016Asn) n.2260G>A n.4414G>A n.5810G>A n.4231G>A n.4057G>A c.4230G>A c.2535G>A c.6082G>A (p.Asp2028Asn) c.6079G>A (p.Asp2027Asn) c.6052G>A (p.Asp2018Asn) c.6043G>A (p.Asp2015Asn) | |
| 12 | g.115970616T>A | CA386876118 | MED13L | c.6045A>T (p.Glu2015Asp) n.2259A>T n.4413A>T n.5809A>T n.4230A>T n.4056A>T c.4229A>T c.2534A>T c.6081A>T (p.Glu2027Asp) c.6078A>T (p.Glu2026Asp) c.6051A>T (p.Glu2017Asp) c.6042A>T (p.Glu2014Asp) | |
| 12 | g.115970616T>C | CA481943143 | MED13L | c.6045A>G (p.Glu2015=) n.2259A>G n.4413A>G n.5809A>G n.4230A>G n.4056A>G c.4229A>G c.2534A>G c.6081A>G (p.Glu2027=) c.6078A>G (p.Glu2026=) c.6051A>G (p.Glu2017=) c.6042A>G (p.Glu2014=) | |
| 12 | g.115970616T>G | CA386876119 | MED13L | c.6045A>C (p.Glu2015Asp) n.2259A>C n.4413A>C n.5809A>C n.4230A>C n.4056A>C c.4229A>C c.2534A>C c.6081A>C (p.Glu2027Asp) c.6078A>C (p.Glu2026Asp) c.6051A>C (p.Glu2017Asp) c.6042A>C (p.Glu2014Asp) | |
| 12 | g.115970617T>A | CA386876120 | MED13L | c.6044A>T (p.Glu2015Val) n.2258A>T n.4412A>T n.5808A>T n.4229A>T n.4055A>T c.4228A>T c.2533A>T c.6080A>T (p.Glu2027Val) c.6077A>T (p.Glu2026Val) c.6050A>T (p.Glu2017Val) c.6041A>T (p.Glu2014Val) | |
| 12 | g.115970617T>C | CA386876121 | MED13L | c.6044A>G (p.Glu2015Gly) n.2258A>G n.4412A>G n.5808A>G n.4229A>G n.4055A>G c.4228A>G c.2533A>G c.6080A>G (p.Glu2027Gly) c.6077A>G (p.Glu2026Gly) c.6050A>G (p.Glu2017Gly) c.6041A>G (p.Glu2014Gly) | |
| 12 | g.115970617T>G | CA386876122 | MED13L | c.6044A>C (p.Glu2015Ala) n.2258A>C n.4412A>C n.5808A>C n.4229A>C n.4055A>C c.4228A>C c.2533A>C c.6080A>C (p.Glu2027Ala) c.6077A>C (p.Glu2026Ala) c.6050A>C (p.Glu2017Ala) c.6041A>C (p.Glu2014Ala) | |
| 12 | g.115970618C>A | CA386876125 | MED13L | c.6043G>T (p.Glu2015Ter) n.2257G>T n.4411G>T n.5807G>T n.4228G>T n.4054G>T c.4227G>T c.2532G>T c.6079G>T (p.Glu2027Ter) c.6076G>T (p.Glu2026Ter) c.6049G>T (p.Glu2017Ter) c.6040G>T (p.Glu2014Ter) | |
| 12 | g.115970618C>G | CA386876123 | MED13L | c.6043G>C (p.Glu2015Gln) n.2257G>C n.4411G>C n.5807G>C n.4228G>C n.4054G>C c.4227G>C c.2532G>C c.6079G>C (p.Glu2027Gln) c.6076G>C (p.Glu2026Gln) c.6049G>C (p.Glu2017Gln) c.6040G>C (p.Glu2014Gln) | |
| 12 | g.115970618C>T | CA386876124 | MED13L | c.6043G>A (p.Glu2015Lys) n.2257G>A n.4411G>A n.5807G>A n.4228G>A n.4054G>A c.4227G>A c.2532G>A c.6079G>A (p.Glu2027Lys) c.6076G>A (p.Glu2026Lys) c.6049G>A (p.Glu2017Lys) c.6040G>A (p.Glu2014Lys) | |
| 12 | g.115970619A>C | CA386876126 | MED13L | c.6042T>G (p.Asn2014Lys) n.2256T>G n.4410T>G n.5806T>G n.4227T>G n.4053T>G c.4226T>G c.2531T>G c.6078T>G (p.Asn2026Lys) c.6075T>G (p.Asn2025Lys) c.6048T>G (p.Asn2016Lys) c.6039T>G (p.Asn2013Lys) | |
| 12 | g.115970619A>G | CA481943146 | MED13L | c.6042T>C (p.Asn2014=) n.2256T>C n.4410T>C n.5806T>C n.4227T>C n.4053T>C c.4226T>C c.2531T>C c.6078T>C (p.Asn2026=) c.6075T>C (p.Asn2025=) c.6048T>C (p.Asn2016=) c.6039T>C (p.Asn2013=) | |
| 12 | g.115970619A>T | CA386876127 | MED13L | c.6042T>A (p.Asn2014Lys) n.2256T>A n.4410T>A n.5806T>A n.4227T>A n.4053T>A c.4226T>A c.2531T>A c.6078T>A (p.Asn2026Lys) c.6075T>A (p.Asn2025Lys) c.6048T>A (p.Asn2016Lys) c.6039T>A (p.Asn2013Lys) | |
| 12 | g.115970620T>A | CA386876128 | MED13L | c.6041A>T (p.Asn2014Ile) n.2255A>T n.4409A>T n.5805A>T n.4226A>T n.4052A>T c.4225A>T c.2530A>T c.6077A>T (p.Asn2026Ile) c.6074A>T (p.Asn2025Ile) c.6047A>T (p.Asn2016Ile) c.6038A>T (p.Asn2013Ile) | |
| 12 | g.115970620T>C | CA386876129 | MED13L | c.6041A>G (p.Asn2014Ser) n.2255A>G n.4409A>G n.5805A>G n.4226A>G n.4052A>G c.4225A>G c.2530A>G c.6077A>G (p.Asn2026Ser) c.6074A>G (p.Asn2025Ser) c.6047A>G (p.Asn2016Ser) c.6038A>G (p.Asn2013Ser) | dbSNP gnomAD v4 |
| 12 | g.115970620T>G | CA386876130 | MED13L | c.6041A>C (p.Asn2014Thr) n.2255A>C n.4409A>C n.5805A>C n.4226A>C n.4052A>C c.4225A>C c.2530A>C c.6077A>C (p.Asn2026Thr) c.6074A>C (p.Asn2025Thr) c.6047A>C (p.Asn2016Thr) c.6038A>C (p.Asn2013Thr) | |
| 12 | g.115970620T= | CA2065410888 | MED13L | c.6041A= (p.Asn2014=) n.2255A= n.4409A= n.5805A= n.4226A= n.4052A= c.4225A= c.2530A= c.6077A= (p.Asn2026=) c.6074A= (p.Asn2025=) c.6047A= (p.Asn2016=) c.6038A= (p.Asn2013=) |