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.115970706G>A | CA6810466 | MED13L | c.5955C>T (p.Leu1985=) n.2169C>T n.4323C>T n.5719C>T n.4140C>T n.3966C>T c.4139C>T c.2444C>T c.5991C>T (p.Leu1997=) n.453C>T c.568C>T c.5988C>T (p.Leu1996=) c.5961C>T (p.Leu1987=) c.5952C>T (p.Leu1984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115970706G>C | CA481943216 | MED13L | c.5955C>G (p.Leu1985=) n.2169C>G n.4323C>G n.5719C>G n.4140C>G n.3966C>G c.4139C>G c.2444C>G c.5991C>G (p.Leu1997=) n.453C>G c.568C>G c.5988C>G (p.Leu1996=) c.5961C>G (p.Leu1987=) c.5952C>G (p.Leu1984=) | |
| 12 | g.115970706G= | CA2065410915 | MED13L | c.5955C= (p.Leu1985=) n.2169C= n.4323C= n.5719C= n.4140C= n.3966C= c.4139C= c.2444C= c.5991C= (p.Leu1997=) n.453C= c.568C= c.5988C= (p.Leu1996=) c.5961C= (p.Leu1987=) c.5952C= (p.Leu1984=) | |
| 12 | g.115970706G>T | CA481943215 | MED13L | c.5955C>A (p.Leu1985=) n.2169C>A n.4323C>A n.5719C>A n.4140C>A n.3966C>A c.4139C>A c.2444C>A c.5991C>A (p.Leu1997=) n.453C>A c.568C>A c.5988C>A (p.Leu1996=) c.5961C>A (p.Leu1987=) c.5952C>A (p.Leu1984=) | |
| 12 | g.115970707A>C | CA386876415 | MED13L | c.5954T>G (p.Leu1985Arg) n.2168T>G n.4322T>G n.5718T>G n.4139T>G n.3965T>G c.4138T>G c.2443T>G c.5990T>G (p.Leu1997Arg) n.452T>G c.567T>G c.5987T>G (p.Leu1996Arg) c.5960T>G (p.Leu1987Arg) c.5951T>G (p.Leu1984Arg) | |
| 12 | g.115970707A>G | CA386876416 | MED13L | c.5954T>C (p.Leu1985Pro) n.2168T>C n.4322T>C n.5718T>C n.4139T>C n.3965T>C c.4138T>C c.2443T>C c.5990T>C (p.Leu1997Pro) n.452T>C c.567T>C c.5987T>C (p.Leu1996Pro) c.5960T>C (p.Leu1987Pro) c.5951T>C (p.Leu1984Pro) | |
| 12 | g.115970707A>T | CA386876417 | MED13L | c.5954T>A (p.Leu1985His) n.2168T>A n.4322T>A n.5718T>A n.4139T>A n.3965T>A c.4138T>A c.2443T>A c.5990T>A (p.Leu1997His) n.452T>A c.567T>A c.5987T>A (p.Leu1996His) c.5960T>A (p.Leu1987His) c.5951T>A (p.Leu1984His) | |
| 12 | g.115970708G>A | CA386876424 | MED13L | c.5953C>T (p.Leu1985Phe) n.2167C>T n.4321C>T n.5717C>T n.4138C>T n.3964C>T c.4137C>T c.2442C>T c.5989C>T (p.Leu1997Phe) n.451C>T c.566C>T c.5986C>T (p.Leu1996Phe) c.5959C>T (p.Leu1987Phe) c.5950C>T (p.Leu1984Phe) | |
| 12 | g.115970708G>C | CA386876426 | MED13L | c.5953C>G (p.Leu1985Val) n.2167C>G n.4321C>G n.5717C>G n.4138C>G n.3964C>G c.4137C>G c.2442C>G c.5989C>G (p.Leu1997Val) n.451C>G c.566C>G c.5986C>G (p.Leu1996Val) c.5959C>G (p.Leu1987Val) c.5950C>G (p.Leu1984Val) | ClinVar dbSNP |
| 12 | g.115970708G>T | CA386876420 | MED13L | c.5953C>A (p.Leu1985Ile) n.2167C>A n.4321C>A n.5717C>A n.4138C>A n.3964C>A c.4137C>A c.2442C>A c.5989C>A (p.Leu1997Ile) n.451C>A c.566C>A c.5986C>A (p.Leu1996Ile) c.5959C>A (p.Leu1987Ile) c.5950C>A (p.Leu1984Ile) | |
| 12 | g.115970709C>A | CA386876429 | MED13L | c.5952G>T (p.Gln1984His) n.2166G>T n.4320G>T n.5716G>T n.4137G>T n.3963G>T c.4136G>T c.2441G>T c.5988G>T (p.Gln1996His) n.450G>T c.565G>T c.5985G>T (p.Gln1995His) c.5958G>T (p.Gln1986His) c.5949G>T (p.Gln1983His) | |
| 12 | g.115970709C= | CA2065410916 | MED13L | c.5952G= (p.Gln1984=) n.2166G= n.4320G= n.5716G= n.4137G= n.3963G= c.4136G= c.2441G= c.5988G= (p.Gln1996=) n.450G= c.565G= c.5985G= (p.Gln1995=) c.5958G= (p.Gln1986=) c.5949G= (p.Gln1983=) | |
| 12 | g.115970709C>G | CA386876431 | MED13L | c.5952G>C (p.Gln1984His) n.2166G>C n.4320G>C n.5716G>C n.4137G>C n.3963G>C c.4136G>C c.2441G>C c.5988G>C (p.Gln1996His) n.450G>C c.565G>C c.5985G>C (p.Gln1995His) c.5958G>C (p.Gln1986His) c.5949G>C (p.Gln1983His) | |
| 12 | g.115970709C>T | CA481943220 | MED13L | c.5952G>A (p.Gln1984=) n.2166G>A n.4320G>A n.5716G>A n.4137G>A n.3963G>A c.4136G>A c.2441G>A c.5988G>A (p.Gln1996=) n.450G>A c.565G>A c.5985G>A (p.Gln1995=) c.5958G>A (p.Gln1986=) c.5949G>A (p.Gln1983=) | dbSNP |
| 12 | g.115970710T>A | CA386876433 | MED13L | c.5951A>T (p.Gln1984Leu) n.2165A>T n.4319A>T n.5715A>T n.4136A>T n.3962A>T c.4135A>T c.2440A>T c.5987A>T (p.Gln1996Leu) n.449A>T c.564A>T c.5984A>T (p.Gln1995Leu) c.5957A>T (p.Gln1986Leu) c.5948A>T (p.Gln1983Leu) | |
| 12 | g.115970710T>C | CA386876435 | MED13L | c.5951A>G (p.Gln1984Arg) n.2165A>G n.4319A>G n.5715A>G n.4136A>G n.3962A>G c.4135A>G c.2440A>G c.5987A>G (p.Gln1996Arg) n.449A>G c.564A>G c.5984A>G (p.Gln1995Arg) c.5957A>G (p.Gln1986Arg) c.5948A>G (p.Gln1983Arg) | ClinVar dbSNP |
| 12 | g.115970710T>G | CA386876437 | MED13L | c.5951A>C (p.Gln1984Pro) n.2165A>C n.4319A>C n.5715A>C n.4136A>C n.3962A>C c.4135A>C c.2440A>C c.5987A>C (p.Gln1996Pro) n.449A>C c.564A>C c.5984A>C (p.Gln1995Pro) c.5957A>C (p.Gln1986Pro) c.5948A>C (p.Gln1983Pro) | |
| 12 | g.115970710_115970712delinsTGA | CA2065410917 | MED13L | c.5949_5951delinsTCA (p.Ser1983=) n.2163_2165delinsTCA n.4317_4319delinsTCA n.5713_5715delinsTCA n.4134_4136delinsTCA n.3960_3962delinsTCA c.4133_4135delinsTCA c.2438_2440delinsTCA c.5985_5987delinsTCA (p.Ser1995=) n.447_449delinsTCA c.562_564delinsTCA c.5982_5984delinsTCA (p.Ser1994=) c.5955_5957delinsTCA (p.Ser1985=) c.5946_5948delinsTCA (p.Ser1982=) | |
| 12 | g.115970711G>A | CA386876445 | MED13L | c.5950C>T (p.Gln1984Ter) n.2164C>T n.4318C>T n.5714C>T n.4135C>T n.3961C>T c.4134C>T c.2439C>T c.5986C>T (p.Gln1996Ter) n.448C>T c.563C>T c.5983C>T (p.Gln1995Ter) c.5956C>T (p.Gln1986Ter) c.5947C>T (p.Gln1983Ter) | ClinVar dbSNP COSMIC |
| 12 | g.115970711G>C | CA386876439 | MED13L | c.5950C>G (p.Gln1984Glu) n.2164C>G n.4318C>G n.5714C>G n.4135C>G n.3961C>G c.4134C>G c.2439C>G c.5986C>G (p.Gln1996Glu) n.448C>G c.563C>G c.5983C>G (p.Gln1995Glu) c.5956C>G (p.Gln1986Glu) c.5947C>G (p.Gln1983Glu) | |
| 12 | g.115970711G= | CA2065410918 | MED13L | c.5950C= (p.Gln1984=) n.2164C= n.4318C= n.5714C= n.4135C= n.3961C= c.4134C= c.2439C= c.5986C= (p.Gln1996=) n.448C= c.563C= c.5983C= (p.Gln1995=) c.5956C= (p.Gln1986=) c.5947C= (p.Gln1983=) | |
| 12 | g.115970711G>T | CA386876443 | MED13L | c.5950C>A (p.Gln1984Lys) n.2164C>A n.4318C>A n.5714C>A n.4135C>A n.3961C>A c.4134C>A c.2439C>A c.5986C>A (p.Gln1996Lys) n.448C>A c.563C>A c.5983C>A (p.Gln1995Lys) c.5956C>A (p.Gln1986Lys) c.5947C>A (p.Gln1983Lys) | gnomAD v4 |
| 12 | g.115970713_115970714del | CA351533 | MED13L | c.5949_5950del (p.Gln1984AlafsTer?) n.2163_2164del n.4317_4318del n.5713_5714del n.4134_4135del n.3960_3961del c.4133_4134del c.2438_2439del c.5985_5986del (p.Gln1996AlafsTer?) n.447_448del c.562_563del c.5982_5983del (p.Gln1995AlafsTer?) c.5955_5956del (p.Gln1986AlafsTer?) c.5946_5947del (p.Gln1983AlafsTer?) | ClinVar dbSNP |
| 12 | g.115970712A= | CA2065410919 | MED13L | c.5949T= (p.Ser1983=) n.2163T= n.4317T= n.5713T= n.4134T= n.3960T= c.4133T= c.2438T= c.5985T= (p.Ser1995=) n.447T= c.562T= c.5982T= (p.Ser1994=) c.5955T= (p.Ser1985=) c.5946T= (p.Ser1982=) | |
| 12 | g.115970712A>C | CA481943221 | MED13L | c.5949T>G (p.Ser1983=) n.2163T>G n.4317T>G n.5713T>G n.4134T>G n.3960T>G c.4133T>G c.2438T>G c.5985T>G (p.Ser1995=) n.447T>G c.562T>G c.5982T>G (p.Ser1994=) c.5955T>G (p.Ser1985=) c.5946T>G (p.Ser1982=) | |
| 12 | g.115970712A>G | CA6810467 | MED13L | c.5949T>C (p.Ser1983=) n.2163T>C n.4317T>C n.5713T>C n.4134T>C n.3960T>C c.4133T>C c.2438T>C c.5985T>C (p.Ser1995=) n.447T>C c.562T>C c.5982T>C (p.Ser1994=) c.5955T>C (p.Ser1985=) c.5946T>C (p.Ser1982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.115970712A>T | CA481943222 | MED13L | c.5949T>A (p.Ser1983=) n.2163T>A n.4317T>A n.5713T>A n.4134T>A n.3960T>A c.4133T>A c.2438T>A c.5985T>A (p.Ser1995=) n.447T>A c.562T>A c.5982T>A (p.Ser1994=) c.5955T>A (p.Ser1985=) c.5946T>A (p.Ser1982=) | |
| 12 | g.115970713G>A | CA386876448 | MED13L | c.5948C>T (p.Ser1983Phe) n.2162C>T n.4316C>T n.5712C>T n.4133C>T n.3959C>T c.4132C>T c.2437C>T c.5984C>T (p.Ser1995Phe) n.446C>T c.561C>T c.5981C>T (p.Ser1994Phe) c.5954C>T (p.Ser1985Phe) c.5945C>T (p.Ser1982Phe) | |
| 12 | g.115970713G>C | CA386876450 | MED13L | c.5948C>G (p.Ser1983Cys) n.2162C>G n.4316C>G n.5712C>G n.4133C>G n.3959C>G c.4132C>G c.2437C>G c.5984C>G (p.Ser1995Cys) n.446C>G c.561C>G c.5981C>G (p.Ser1994Cys) c.5954C>G (p.Ser1985Cys) c.5945C>G (p.Ser1982Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.115970713G= | CA2065410920 | MED13L | c.5948C= (p.Ser1983=) n.2162C= n.4316C= n.5712C= n.4133C= n.3959C= c.4132C= c.2437C= c.5984C= (p.Ser1995=) n.446C= c.561C= c.5981C= (p.Ser1994=) c.5954C= (p.Ser1985=) c.5945C= (p.Ser1982=) | |
| 12 | g.115970713G>T | CA386876452 | MED13L | c.5948C>A (p.Ser1983Tyr) n.2162C>A n.4316C>A n.5712C>A n.4133C>A n.3959C>A c.4132C>A c.2437C>A c.5984C>A (p.Ser1995Tyr) n.446C>A c.561C>A c.5981C>A (p.Ser1994Tyr) c.5954C>A (p.Ser1985Tyr) c.5945C>A (p.Ser1982Tyr) | |
| 12 | g.115970714A>C | CA386876455 | MED13L | c.5947T>G (p.Ser1983Ala) n.2161T>G n.4315T>G n.5711T>G n.4132T>G n.3958T>G c.4131T>G c.2436T>G c.5983T>G (p.Ser1995Ala) n.445T>G c.560T>G c.5980T>G (p.Ser1994Ala) c.5953T>G (p.Ser1985Ala) c.5944T>G (p.Ser1982Ala) | |
| 12 | g.115970714A>G | CA386876457 | MED13L | c.5947T>C (p.Ser1983Pro) n.2161T>C n.4315T>C n.5711T>C n.4132T>C n.3958T>C c.4131T>C c.2436T>C c.5983T>C (p.Ser1995Pro) n.445T>C c.560T>C c.5980T>C (p.Ser1994Pro) c.5953T>C (p.Ser1985Pro) c.5944T>C (p.Ser1982Pro) | |
| 12 | g.115970714A>T | CA386876456 | MED13L | c.5947T>A (p.Ser1983Thr) n.2161T>A n.4315T>A n.5711T>A n.4132T>A n.3958T>A c.4131T>A c.2436T>A c.5983T>A (p.Ser1995Thr) n.445T>A c.560T>A c.5980T>A (p.Ser1994Thr) c.5953T>A (p.Ser1985Thr) c.5944T>A (p.Ser1982Thr) | |
| 12 | g.115970715T>A | CA481943224 | MED13L | c.5946A>T (p.Ser1982=) n.2160A>T n.4314A>T n.5710A>T n.4131A>T n.3957A>T c.4130A>T c.2435A>T c.5982A>T (p.Ser1994=) n.444A>T c.559A>T c.5979A>T (p.Ser1993=) c.5952A>T (p.Ser1984=) c.5943A>T (p.Ser1981=) | |
| 12 | g.115970715T>C | CA6810468 | MED13L | c.5946A>G (p.Ser1982=) n.2160A>G n.4314A>G n.5710A>G n.4131A>G n.3957A>G c.4130A>G c.2435A>G c.5982A>G (p.Ser1994=) n.444A>G c.559A>G c.5979A>G (p.Ser1993=) c.5952A>G (p.Ser1984=) c.5943A>G (p.Ser1981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115970715T>G | CA481943223 | MED13L | c.5946A>C (p.Ser1982=) n.2160A>C n.4314A>C n.5710A>C n.4131A>C n.3957A>C c.4130A>C c.2435A>C c.5982A>C (p.Ser1994=) n.444A>C c.559A>C c.5979A>C (p.Ser1993=) c.5952A>C (p.Ser1984=) c.5943A>C (p.Ser1981=) | |
| 12 | g.115970715T= | CA2065410921 | MED13L | c.5946A= (p.Ser1982=) n.2160A= n.4314A= n.5710A= n.4131A= n.3957A= c.4130A= c.2435A= c.5982A= (p.Ser1994=) n.444A= c.559A= c.5979A= (p.Ser1993=) c.5952A= (p.Ser1984=) c.5943A= (p.Ser1981=) | |
| 12 | g.115970716G>A | CA386876461 | MED13L | c.5945C>T (p.Ser1982Leu) n.2159C>T n.4313C>T n.5709C>T n.4130C>T n.3956C>T c.4129C>T c.2434C>T c.5981C>T (p.Ser1994Leu) n.443C>T c.558C>T c.5978C>T (p.Ser1993Leu) c.5951C>T (p.Ser1984Leu) c.5942C>T (p.Ser1981Leu) | |
| 12 | g.115970716G>C | CA386876462 | MED13L | c.5945C>G (p.Ser1982Ter) n.2159C>G n.4313C>G n.5709C>G n.4130C>G n.3956C>G c.4129C>G c.2434C>G c.5981C>G (p.Ser1994Ter) n.443C>G c.558C>G c.5978C>G (p.Ser1993Ter) c.5951C>G (p.Ser1984Ter) c.5942C>G (p.Ser1981Ter) | |
| 12 | g.115970716G>T | CA386876465 | MED13L | c.5945C>A (p.Ser1982Ter) n.2159C>A n.4313C>A n.5709C>A n.4130C>A n.3956C>A c.4129C>A c.2434C>A c.5981C>A (p.Ser1994Ter) n.443C>A c.558C>A c.5978C>A (p.Ser1993Ter) c.5951C>A (p.Ser1984Ter) c.5942C>A (p.Ser1981Ter) | gnomAD v4 |
| 12 | g.115970717A= | CA2065410922 | MED13L | c.5944T= (p.Ser1982=) n.2158T= n.4312T= n.5708T= n.4129T= n.3955T= c.4128T= c.2433T= c.5980T= (p.Ser1994=) n.442T= c.557T= c.5977T= (p.Ser1993=) c.5950T= (p.Ser1984=) c.5941T= (p.Ser1981=) | |
| 12 | g.115970717A>C | CA6810469 | MED13L | c.5944T>G (p.Ser1982Ala) n.2158T>G n.4312T>G n.5708T>G n.4129T>G n.3955T>G c.4128T>G c.2433T>G c.5980T>G (p.Ser1994Ala) n.442T>G c.557T>G c.5977T>G (p.Ser1993Ala) c.5950T>G (p.Ser1984Ala) c.5941T>G (p.Ser1981Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.115970717A>G | CA386876468 | MED13L | c.5944T>C (p.Ser1982Pro) n.2158T>C n.4312T>C n.5708T>C n.4129T>C n.3955T>C c.4128T>C c.2433T>C c.5980T>C (p.Ser1994Pro) n.442T>C c.557T>C c.5977T>C (p.Ser1993Pro) c.5950T>C (p.Ser1984Pro) c.5941T>C (p.Ser1981Pro) | |
| 12 | g.115970717A>T | CA386876469 | MED13L | c.5944T>A (p.Ser1982Thr) n.2158T>A n.4312T>A n.5708T>A n.4129T>A n.3955T>A c.4128T>A c.2433T>A c.5980T>A (p.Ser1994Thr) n.442T>A c.557T>A c.5977T>A (p.Ser1993Thr) c.5950T>A (p.Ser1984Thr) c.5941T>A (p.Ser1981Thr) | |
| 12 | g.115970718C>A | CA386876472 | MED13L | c.5943G>T (p.Gln1981His) n.2157G>T n.4311G>T n.5707G>T n.4128G>T n.3954G>T c.4127G>T c.2432G>T c.5979G>T (p.Gln1993His) n.441G>T c.556G>T c.5976G>T (p.Gln1992His) c.5949G>T (p.Gln1983His) c.5940G>T (p.Gln1980His) | |
| 12 | g.115970718C= | CA2065410923 | MED13L | c.5943G= (p.Gln1981=) n.2157G= n.4311G= n.5707G= n.4128G= n.3954G= c.4127G= c.2432G= c.5979G= (p.Gln1993=) n.441G= c.556G= c.5976G= (p.Gln1992=) c.5949G= (p.Gln1983=) c.5940G= (p.Gln1980=) | |
| 12 | g.115970718C>G | CA386876474 | MED13L | c.5943G>C (p.Gln1981His) n.2157G>C n.4311G>C n.5707G>C n.4128G>C n.3954G>C c.4127G>C c.2432G>C c.5979G>C (p.Gln1993His) n.441G>C c.556G>C c.5976G>C (p.Gln1992His) c.5949G>C (p.Gln1983His) c.5940G>C (p.Gln1980His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.115970718C>T | CA481943225 | MED13L | c.5943G>A (p.Gln1981=) n.2157G>A n.4311G>A n.5707G>A n.4128G>A n.3954G>A c.4127G>A c.2432G>A c.5979G>A (p.Gln1993=) n.441G>A c.556G>A c.5976G>A (p.Gln1992=) c.5949G>A (p.Gln1983=) c.5940G>A (p.Gln1980=) | gnomAD v4 |
| 12 | g.115970719T>A | CA386876476 | MED13L | c.5942A>T (p.Gln1981Leu) n.2156A>T n.4310A>T n.5706A>T n.4127A>T n.3953A>T c.4126A>T c.2431A>T c.5978A>T (p.Gln1993Leu) n.440A>T c.555A>T c.5975A>T (p.Gln1992Leu) c.5948A>T (p.Gln1983Leu) c.5939A>T (p.Gln1980Leu) |