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 |
|---|---|---|---|---|---|
| 4 | g.121854790G>A | CA252534 | BBS7 | c.632C>T (p.Thr211Ile) c.635C>T (p.Thr212Ile) c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.121854790G>C | CA358066119 | BBS7 | c.632C>G (p.Thr211Arg) c.635C>G (p.Thr212Arg) c.680C>G (p.Thr227Arg) c.677C>G (p.Thr226Arg) | ClinVar dbSNP |
| 4 | g.121854790G= | CA1490026000 | BBS7 | c.632C= (p.Thr211=) c.635C= (p.Thr212=) c.680C= (p.Thr227=) c.677C= (p.Thr226=) | |
| 4 | g.121854790G>T | CA358066122 | BBS7 | c.632C>A (p.Thr211Lys) c.635C>A (p.Thr212Lys) c.680C>A (p.Thr227Lys) c.677C>A (p.Thr226Lys) | |
| 4 | g.121854791T>A | CA358066126 | BBS7 | c.631A>T (p.Thr211Ser) c.634A>T (p.Thr212Ser) c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) | gnomAD v4 |
| 4 | g.121854791T>C | CA358066130 | BBS7 | c.631A>G (p.Thr211Ala) c.634A>G (p.Thr212Ala) c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) | dbSNP gnomAD v4 |
| 4 | g.121854791T>G | CA358066125 | BBS7 | c.631A>C (p.Thr211Pro) c.634A>C (p.Thr212Pro) c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) | |
| 4 | g.121854791T= | CA1490026001 | BBS7 | c.631A= (p.Thr211=) c.634A= (p.Thr212=) c.679A= (p.Thr227=) c.676A= (p.Thr226=) | |
| 4 | g.121854792C>A | CA440922825 | BBS7 | c.630G>T (p.Gly210=) c.633G>T (p.Gly211=) c.678G>T (p.Gly226=) c.675G>T (p.Gly225=) | |
| 4 | g.121854792C>G | CA440922824 | BBS7 | c.630G>C (p.Gly210=) c.633G>C (p.Gly211=) c.678G>C (p.Gly226=) c.675G>C (p.Gly225=) | |
| 4 | g.121854792C>T | CA440922823 | BBS7 | c.630G>A (p.Gly210=) c.633G>A (p.Gly211=) c.678G>A (p.Gly226=) c.675G>A (p.Gly225=) | gnomAD v4 |
| 4 | g.121854793C>A | CA358066133 | BBS7 | c.629G>T (p.Gly210Val) c.632G>T (p.Gly211Val) c.677G>T (p.Gly226Val) c.674G>T (p.Gly225Val) | |
| 4 | g.121854793C>G | CA358066136 | BBS7 | c.629G>C (p.Gly210Ala) c.632G>C (p.Gly211Ala) c.677G>C (p.Gly226Ala) c.674G>C (p.Gly225Ala) | |
| 4 | g.121854793C>T | CA358066139 | BBS7 | c.629G>A (p.Gly210Glu) c.632G>A (p.Gly211Glu) c.677G>A (p.Gly226Glu) c.674G>A (p.Gly225Glu) | gnomAD v4 |
| 4 | g.121854794C>A | CA358066141 | BBS7 | c.628G>T (p.Gly210Trp) c.631G>T (p.Gly211Trp) c.676G>T (p.Gly226Trp) c.673G>T (p.Gly225Trp) | |
| 4 | g.121854794C>G | CA358066142 | BBS7 | c.628G>C (p.Gly210Arg) c.631G>C (p.Gly211Arg) c.676G>C (p.Gly226Arg) c.673G>C (p.Gly225Arg) | |
| 4 | g.121854794C>T | CA358066143 | BBS7 | c.628G>A (p.Gly210Arg) c.631G>A (p.Gly211Arg) c.676G>A (p.Gly226Arg) c.673G>A (p.Gly225Arg) | |
| 4 | g.121854795A>C | CA358066144 | BBS7 | c.627T>G (p.Phe209Leu) c.630T>G (p.Phe210Leu) c.675T>G (p.Phe225Leu) c.672T>G (p.Phe224Leu) | |
| 4 | g.121854795A>G | CA440922826 | BBS7 | c.627T>C (p.Phe209=) c.630T>C (p.Phe210=) c.675T>C (p.Phe225=) c.672T>C (p.Phe224=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.121854795A>T | CA358066145 | BBS7 | c.627T>A (p.Phe209Leu) c.630T>A (p.Phe210Leu) c.675T>A (p.Phe225Leu) c.672T>A (p.Phe224Leu) | |
| 4 | g.121854796A= | CA1490026002 | BBS7 | c.626T= (p.Phe209=) c.629T= (p.Phe210=) c.674T= (p.Phe225=) c.671T= (p.Phe224=) | |
| 4 | g.121854796A>C | CA358066146 | BBS7 | c.626T>G (p.Phe209Cys) c.629T>G (p.Phe210Cys) c.674T>G (p.Phe225Cys) c.671T>G (p.Phe224Cys) | |
| 4 | g.121854796A>G | CA358066147 | BBS7 | c.626T>C (p.Phe209Ser) c.629T>C (p.Phe210Ser) c.674T>C (p.Phe225Ser) c.671T>C (p.Phe224Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.121854796A>T | CA358066148 | BBS7 | c.626T>A (p.Phe209Tyr) c.629T>A (p.Phe210Tyr) c.674T>A (p.Phe225Tyr) c.671T>A (p.Phe224Tyr) | |
| 4 | g.121854797A>C | CA358066151 | BBS7 | c.625T>G (p.Phe209Val) c.628T>G (p.Phe210Val) c.673T>G (p.Phe225Val) c.670T>G (p.Phe224Val) | |
| 4 | g.121854797A>G | CA358066152 | BBS7 | c.625T>C (p.Phe209Leu) c.628T>C (p.Phe210Leu) c.673T>C (p.Phe225Leu) c.670T>C (p.Phe224Leu) | |
| 4 | g.121854797A>T | CA358066156 | BBS7 | c.625T>A (p.Phe209Ile) c.628T>A (p.Phe210Ile) c.673T>A (p.Phe225Ile) c.670T>A (p.Phe224Ile) | |
| 4 | g.121854798C>A | CA104766712 | BBS7 | c.624G>T (p.Leu208Phe) c.627G>T (p.Leu209Phe) c.672G>T (p.Leu224Phe) c.669G>T (p.Leu223Phe) | dbSNP |
| 4 | g.121854798C= | CA1490026003 | BBS7 | c.624G= (p.Leu208=) c.627G= (p.Leu209=) c.672G= (p.Leu224=) c.669G= (p.Leu223=) | |
| 4 | g.121854798C>G | CA358066159 | BBS7 | c.624G>C (p.Leu208Phe) c.627G>C (p.Leu209Phe) c.672G>C (p.Leu224Phe) c.669G>C (p.Leu223Phe) | |
| 4 | g.121854798C>T | CA440922827 | BBS7 | c.624G>A (p.Leu208=) c.627G>A (p.Leu209=) c.672G>A (p.Leu224=) c.669G>A (p.Leu223=) | |
| 4 | g.121854799A= | CA1490026004 | BBS7 | c.623T= (p.Leu208=) c.626T= (p.Leu209=) c.671T= (p.Leu224=) c.668T= (p.Leu223=) | |
| 4 | g.121854799A>C | CA3064448 | BBS7 | c.623T>G (p.Leu208Trp) c.626T>G (p.Leu209Trp) c.671T>G (p.Leu224Trp) c.668T>G (p.Leu223Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.121854799A>G | CA358066165 | BBS7 | c.623T>C (p.Leu208Ser) c.626T>C (p.Leu209Ser) c.671T>C (p.Leu224Ser) c.668T>C (p.Leu223Ser) | gnomAD v4 |
| 4 | g.121854799A>T | CA358066166 | BBS7 | c.623T>A (p.Leu208Ter) c.626T>A (p.Leu209Ter) c.671T>A (p.Leu224Ter) c.668T>A (p.Leu223Ter) | |
| 4 | g.121854799_121854800insCACC | CA2763339217 | BBS7 | c.622_623insGGTG (p.Leu208TrpfsTer29) c.625_626insGGTG (p.Leu209TrpfsTer29) c.670_671insGGTG (p.Leu224TrpfsTer29) c.667_668insGGTG (p.Leu223TrpfsTer29) | |
| 4 | g.121854799_121854800insCACCCAACAC | CA2763339218 | BBS7 | c.622_623insGTGTTGGGTG (p.Leu208CysfsTer31) c.625_626insGTGTTGGGTG (p.Leu209CysfsTer31) c.670_671insGTGTTGGGTG (p.Leu224CysfsTer31) c.667_668insGTGTTGGGTG (p.Leu223CysfsTer31) | |
| 4 | g.121854800A>C | CA358066168 | BBS7 | c.622T>G (p.Leu208Val) c.625T>G (p.Leu209Val) c.670T>G (p.Leu224Val) c.667T>G (p.Leu223Val) | |
| 4 | g.121854800A>G | CA440922828 | BBS7 | c.622T>C (p.Leu208=) c.625T>C (p.Leu209=) c.670T>C (p.Leu224=) c.667T>C (p.Leu223=) | |
| 4 | g.121854800A>T | CA358066171 | BBS7 | c.622T>A (p.Leu208Met) c.625T>A (p.Leu209Met) c.670T>A (p.Leu224Met) c.667T>A (p.Leu223Met) | |
| 4 | g.121854801A>C | CA440922829 | BBS7 | c.621T>G (p.Leu207=) c.624T>G (p.Leu208=) c.669T>G (p.Leu223=) c.666T>G (p.Leu222=) | |
| 4 | g.121854801A>G | CA440922830 | BBS7 | c.621T>C (p.Leu207=) c.624T>C (p.Leu208=) c.669T>C (p.Leu223=) c.666T>C (p.Leu222=) | gnomAD v4 |
| 4 | g.121854801A>T | CA440922831 | BBS7 | c.621T>A (p.Leu207=) c.624T>A (p.Leu208=) c.669T>A (p.Leu223=) c.666T>A (p.Leu222=) | |
| 4 | g.121854802A>C | CA358066172 | BBS7 | c.620T>G (p.Leu207Arg) c.623T>G (p.Leu208Arg) c.668T>G (p.Leu223Arg) c.665T>G (p.Leu222Arg) | |
| 4 | g.121854802A>G | CA358066174 | BBS7 | c.620T>C (p.Leu207Pro) c.623T>C (p.Leu208Pro) c.668T>C (p.Leu223Pro) c.665T>C (p.Leu222Pro) | |
| 4 | g.121854802A>T | CA358066175 | BBS7 | c.620T>A (p.Leu207His) c.623T>A (p.Leu208His) c.668T>A (p.Leu223His) c.665T>A (p.Leu222His) | |
| 4 | g.121854802_121854803delinsAG | CA1490026005 | BBS7 | c.619_620delinsCT (p.Leu207=) c.622_623delinsCT (p.Leu208=) c.667_668delinsCT (p.Leu223=) c.664_665delinsCT (p.Leu222=) | |
| 4 | g.121854803G>A | CA3064449 | BBS7 | c.619C>T (p.Leu207Phe) c.622C>T (p.Leu208Phe) c.667C>T (p.Leu223Phe) c.664C>T (p.Leu222Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.121854803G>C | CA358066178 | BBS7 | c.619C>G (p.Leu207Val) c.622C>G (p.Leu208Val) c.667C>G (p.Leu223Val) c.664C>G (p.Leu222Val) | gnomAD v4 |
| 4 | g.121854803G= | CA1490026007 | BBS7 | c.619C= (p.Leu207=) c.622C= (p.Leu208=) c.667C= (p.Leu223=) c.664C= (p.Leu222=) |