UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 12 | g.115970719T>C | CA386876478 | MED13L | c.5942A>G (p.Gln1981Arg) n.2156A>G n.4310A>G n.5706A>G n.4127A>G n.3953A>G c.4126A>G c.2431A>G c.5978A>G (p.Gln1993Arg) n.440A>G c.555A>G c.5975A>G (p.Gln1992Arg) c.5948A>G (p.Gln1983Arg) c.5939A>G (p.Gln1980Arg) | |
| 12 | g.115970719T>G | CA386876480 | MED13L | c.5942A>C (p.Gln1981Pro) n.2156A>C n.4310A>C n.5706A>C n.4127A>C n.3953A>C c.4126A>C c.2431A>C c.5978A>C (p.Gln1993Pro) n.440A>C c.555A>C c.5975A>C (p.Gln1992Pro) c.5948A>C (p.Gln1983Pro) c.5939A>C (p.Gln1980Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.115970719T= | CA2065410924 | MED13L | c.5942A= (p.Gln1981=) n.2156A= n.4310A= n.5706A= n.4127A= n.3953A= c.4126A= c.2431A= c.5978A= (p.Gln1993=) n.440A= c.555A= c.5975A= (p.Gln1992=) c.5948A= (p.Gln1983=) c.5939A= (p.Gln1980=) | |
| 12 | g.115970720G>A | CA386876485 | MED13L | c.5941C>T (p.Gln1981Ter) n.2155C>T n.4309C>T n.5705C>T n.4126C>T n.3952C>T c.4125C>T c.2430C>T c.5977C>T (p.Gln1993Ter) n.439C>T c.554C>T c.5974C>T (p.Gln1992Ter) c.5947C>T (p.Gln1983Ter) c.5938C>T (p.Gln1980Ter) | ClinVar dbSNP |
| 12 | g.115970720G>C | CA386876484 | MED13L | c.5941C>G (p.Gln1981Glu) n.2155C>G n.4309C>G n.5705C>G n.4126C>G n.3952C>G c.4125C>G c.2430C>G c.5977C>G (p.Gln1993Glu) n.439C>G c.554C>G c.5974C>G (p.Gln1992Glu) c.5947C>G (p.Gln1983Glu) c.5938C>G (p.Gln1980Glu) | |
| 12 | g.115970720G>T | CA386876482 | MED13L | c.5941C>A (p.Gln1981Lys) n.2155C>A n.4309C>A n.5705C>A n.4126C>A n.3952C>A c.4125C>A c.2430C>A c.5977C>A (p.Gln1993Lys) n.439C>A c.554C>A c.5974C>A (p.Gln1992Lys) c.5947C>A (p.Gln1983Lys) c.5938C>A (p.Gln1980Lys) | gnomAD v4 |
| 12 | g.115970721C>A | CA386876490 | MED13L | c.5940G>T (p.Met1980Ile) n.2154G>T n.4308G>T n.5704G>T n.4125G>T n.3951G>T c.4124G>T c.2429G>T c.5976G>T (p.Met1992Ile) n.438G>T c.553G>T c.5973G>T (p.Met1991Ile) c.5946G>T (p.Met1982Ile) c.5937G>T (p.Met1979Ile) | |
| 12 | g.115970721C>G | CA386876488 | MED13L | c.5940G>C (p.Met1980Ile) n.2154G>C n.4308G>C n.5704G>C n.4125G>C n.3951G>C c.4124G>C c.2429G>C c.5976G>C (p.Met1992Ile) n.438G>C c.553G>C c.5973G>C (p.Met1991Ile) c.5946G>C (p.Met1982Ile) c.5937G>C (p.Met1979Ile) | |
| 12 | g.115970721C>T | CA386876491 | MED13L | c.5940G>A (p.Met1980Ile) n.2154G>A n.4308G>A n.5704G>A n.4125G>A n.3951G>A c.4124G>A c.2429G>A c.5976G>A (p.Met1992Ile) n.438G>A c.553G>A c.5973G>A (p.Met1991Ile) c.5946G>A (p.Met1982Ile) c.5937G>A (p.Met1979Ile) | |
| 12 | g.115970722A= | CA2065410925 | MED13L | c.5939T= (p.Met1980=) n.2153T= n.4307T= n.5703T= n.4124T= n.3950T= c.4123T= c.2428T= c.5975T= (p.Met1992=) n.437T= c.552T= c.5972T= (p.Met1991=) c.5945T= (p.Met1982=) c.5936T= (p.Met1979=) | |
| 12 | g.115970722A>C | CA386876494 | MED13L | c.5939T>G (p.Met1980Arg) n.2153T>G n.4307T>G n.5703T>G n.4124T>G n.3950T>G c.4123T>G c.2428T>G c.5975T>G (p.Met1992Arg) n.437T>G c.552T>G c.5972T>G (p.Met1991Arg) c.5945T>G (p.Met1982Arg) c.5936T>G (p.Met1979Arg) | |
| 12 | g.115970722A>G | CA386876495 | MED13L | c.5939T>C (p.Met1980Thr) n.2153T>C n.4307T>C n.5703T>C n.4124T>C n.3950T>C c.4123T>C c.2428T>C c.5975T>C (p.Met1992Thr) n.437T>C c.552T>C c.5972T>C (p.Met1991Thr) c.5945T>C (p.Met1982Thr) c.5936T>C (p.Met1979Thr) | gnomAD v4 |
| 12 | g.115970722A>T | CA386876497 | MED13L | c.5939T>A (p.Met1980Lys) n.2153T>A n.4307T>A n.5703T>A n.4124T>A n.3950T>A c.4123T>A c.2428T>A c.5975T>A (p.Met1992Lys) n.437T>A c.552T>A c.5972T>A (p.Met1991Lys) c.5945T>A (p.Met1982Lys) c.5936T>A (p.Met1979Lys) | ClinVar dbSNP |
| 12 | g.115970723T>A | CA386876500 | MED13L | c.5938A>T (p.Met1980Leu) n.2152A>T n.4306A>T n.5702A>T n.4123A>T n.3949A>T c.4122A>T c.2427A>T c.5974A>T (p.Met1992Leu) n.436A>T c.551A>T c.5971A>T (p.Met1991Leu) c.5944A>T (p.Met1982Leu) c.5935A>T (p.Met1979Leu) | |
| 12 | g.115970723T>C | CA386876501 | MED13L | c.5938A>G (p.Met1980Val) n.2152A>G n.4306A>G n.5702A>G n.4123A>G n.3949A>G c.4122A>G c.2427A>G c.5974A>G (p.Met1992Val) n.436A>G c.551A>G c.5971A>G (p.Met1991Val) c.5944A>G (p.Met1982Val) c.5935A>G (p.Met1979Val) | gnomAD v4 |
| 12 | g.115970723T>G | CA386876503 | MED13L | c.5938A>C (p.Met1980Leu) n.2152A>C n.4306A>C n.5702A>C n.4123A>C n.3949A>C c.4122A>C c.2427A>C c.5974A>C (p.Met1992Leu) n.436A>C c.551A>C c.5971A>C (p.Met1991Leu) c.5944A>C (p.Met1982Leu) c.5935A>C (p.Met1979Leu) | |
| 12 | g.115970724G>A | CA481943227 | MED13L | c.5937C>T (p.Asn1979=) n.2151C>T n.4305C>T n.5701C>T n.4122C>T n.3948C>T c.4121C>T c.2426C>T c.5973C>T (p.Asn1991=) n.435C>T c.550C>T c.5970C>T (p.Asn1990=) c.5943C>T (p.Asn1981=) c.5934C>T (p.Asn1978=) | gnomAD v4 |
| 12 | g.115970724G>C | CA386876506 | MED13L | c.5937C>G (p.Asn1979Lys) n.2151C>G n.4305C>G n.5701C>G n.4122C>G n.3948C>G c.4121C>G c.2426C>G c.5973C>G (p.Asn1991Lys) n.435C>G c.550C>G c.5970C>G (p.Asn1990Lys) c.5943C>G (p.Asn1981Lys) c.5934C>G (p.Asn1978Lys) | |
| 12 | g.115970724G>T | CA386876507 | MED13L | c.5937C>A (p.Asn1979Lys) n.2151C>A n.4305C>A n.5701C>A n.4122C>A n.3948C>A c.4121C>A c.2426C>A c.5973C>A (p.Asn1991Lys) n.435C>A c.550C>A c.5970C>A (p.Asn1990Lys) c.5943C>A (p.Asn1981Lys) c.5934C>A (p.Asn1978Lys) | |
| 12 | g.115970725T>A | CA386876510 | MED13L | c.5936A>T (p.Asn1979Ile) n.2150A>T n.4304A>T n.5700A>T n.4121A>T n.3947A>T c.4120A>T c.2425A>T c.5972A>T (p.Asn1991Ile) n.434A>T c.549A>T c.5969A>T (p.Asn1990Ile) c.5942A>T (p.Asn1981Ile) c.5933A>T (p.Asn1978Ile) | |
| 12 | g.115970725T>C | CA386876512 | MED13L | c.5936A>G (p.Asn1979Ser) n.2150A>G n.4304A>G n.5700A>G n.4121A>G n.3947A>G c.4120A>G c.2425A>G c.5972A>G (p.Asn1991Ser) n.434A>G c.549A>G c.5969A>G (p.Asn1990Ser) c.5942A>G (p.Asn1981Ser) c.5933A>G (p.Asn1978Ser) | |
| 12 | g.115970725T>G | CA386876513 | MED13L | c.5936A>C (p.Asn1979Thr) n.2150A>C n.4304A>C n.5700A>C n.4121A>C n.3947A>C c.4120A>C c.2425A>C c.5972A>C (p.Asn1991Thr) n.434A>C c.549A>C c.5969A>C (p.Asn1990Thr) c.5942A>C (p.Asn1981Thr) c.5933A>C (p.Asn1978Thr) | |
| 12 | g.115970726T>A | CA386876519 | MED13L | c.5935A>T (p.Asn1979Tyr) n.2149A>T n.4303A>T n.5699A>T n.4120A>T n.3946A>T c.4119A>T c.2424A>T c.5971A>T (p.Asn1991Tyr) n.433A>T c.548A>T c.5968A>T (p.Asn1990Tyr) c.5941A>T (p.Asn1981Tyr) c.5932A>T (p.Asn1978Tyr) | |
| 12 | g.115970726T>C | CA386876518 | MED13L | c.5935A>G (p.Asn1979Asp) n.2149A>G n.4303A>G n.5699A>G n.4120A>G n.3946A>G c.4119A>G c.2424A>G c.5971A>G (p.Asn1991Asp) n.433A>G c.548A>G c.5968A>G (p.Asn1990Asp) c.5941A>G (p.Asn1981Asp) c.5932A>G (p.Asn1978Asp) | |
| 12 | g.115970726T>G | CA386876516 | MED13L | c.5935A>C (p.Asn1979His) n.2149A>C n.4303A>C n.5699A>C n.4120A>C n.3946A>C c.4119A>C c.2424A>C c.5971A>C (p.Asn1991His) n.433A>C c.548A>C c.5968A>C (p.Asn1990His) c.5941A>C (p.Asn1981His) c.5932A>C (p.Asn1978His) | |
| 12 | g.115970727C>A | CA481943228 | MED13L | c.5934G>T (p.Leu1978=) n.2148G>T n.4302G>T n.5698G>T n.4119G>T n.3945G>T c.4118G>T c.2423G>T c.5970G>T (p.Leu1990=) n.432G>T c.547G>T c.5967G>T (p.Leu1989=) c.5940G>T (p.Leu1980=) c.5931G>T (p.Leu1977=) |