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 |
|---|---|---|---|---|---|
| 7 | g.117535281_117538553del | CA2580076362 | CFTR | c.613_870-1547del c.*510_*767-1547del c.*437_*694-1547del c.370_627-1547del c.523_780-1547del c.703_960-1547del | ClinVar |
| 7 | g.117535387_117535409delinsTAGGGAGAATGATGATGAAGTAC | CA1737362198 | CFTR | c.719_741delinsTAGGGAGAATGATGATGAAGTAC (p.Leu240=) c.*616_*638delinsTAGGGAGAATGATGATGAAGTAC (n.*616_*638delinsTAGGGAGAATGATGATGAAGTAC) c.*543_*565delinsTAGGGAGAATGATGATGAAGTAC (n.*543_*565delinsTAGGGAGAATGATGATGAAGTAC) c.476_498delinsTAGGGAGAATGATGATGAAGTAC (p.Leu159=) c.629_651delinsTAGGGAGAATGATGATGAAGTAC (p.Leu210=) c.809_831delinsTAGGGAGAATGATGATGAAGTAC (p.Leu270=) | |
| 7 | g.117535391_117535412del | CA325539 | CFTR | c.723_743+1del c.*620_*640+1del c.*547_*567+1del c.480_500+1del c.633_653+1del c.813_833+1del | ClinVar dbSNP gnomAD v4 |
| 7 | g.117535391G>A | CA457227264 | CFTR | c.723G>A (p.Gly241=) c.*620G>A (n.*620G>A) c.*547G>A (n.*547G>A) c.480G>A (p.Gly160=) c.633G>A (p.Gly211=) c.813G>A (p.Gly271=) | ClinVar |
| 7 | g.117535391G>C | CA457227265 | CFTR | c.723G>C (p.Gly241=) c.*620G>C (n.*620G>C) c.*547G>C (n.*547G>C) c.480G>C (p.Gly160=) c.633G>C (p.Gly211=) c.813G>C (p.Gly271=) | gnomAD v4 |
| 7 | g.117535391G>T | CA457227267 | CFTR | c.723G>T (p.Gly241=) c.*620G>T (n.*620G>T) c.*547G>T (n.*547G>T) c.480G>T (p.Gly160=) c.633G>T (p.Gly211=) c.813G>T (p.Gly271=) | |
| 7 | g.117535392A>C | CA457227269 | CFTR | c.724A>C (p.Arg242=) c.*621A>C (n.*621A>C) c.*548A>C (n.*548A>C) c.481A>C (p.Arg161=) c.634A>C (p.Arg212=) c.814A>C (p.Arg272=) | |
| 7 | g.117535392A>G | CA368977156 | CFTR | c.724A>G (p.Arg242Gly) c.*621A>G (n.*621A>G) c.*548A>G (n.*548A>G) c.481A>G (p.Arg161Gly) c.634A>G (p.Arg212Gly) c.814A>G (p.Arg272Gly) | gnomAD v4 |
| 7 | g.117535392A>T | CA368977157 | CFTR | c.724A>T (p.Arg242Ter) c.*621A>T (n.*621A>T) c.*548A>T (n.*548A>T) c.481A>T (p.Arg161Ter) c.634A>T (p.Arg212Ter) c.814A>T (p.Arg272Ter) | |
| 7 | g.117535393G>A | CA4450809 | CFTR | c.725G>A (p.Arg242Lys) c.*622G>A (n.*622G>A) c.*549G>A (n.*549G>A) c.482G>A (p.Arg161Lys) c.635G>A (p.Arg212Lys) c.815G>A (p.Arg272Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117535393G>C | CA368977159 | CFTR | c.725G>C (p.Arg242Thr) c.*622G>C (n.*622G>C) c.*549G>C (n.*549G>C) c.482G>C (p.Arg161Thr) c.635G>C (p.Arg212Thr) c.815G>C (p.Arg272Thr) | |
| 7 | g.117535393G= | CA1737362201 | CFTR | c.725G= (p.Arg242=) c.*622G= (n.*622G=) c.*549G= (n.*549G=) c.482G= (p.Arg161=) c.635G= (p.Arg212=) c.815G= (p.Arg272=) | |
| 7 | g.117535393G>T | CA368977160 | CFTR | c.725G>T (p.Arg242Ile) c.*622G>T (n.*622G>T) c.*549G>T (n.*549G>T) c.482G>T (p.Arg161Ile) c.635G>T (p.Arg212Ile) c.815G>T (p.Arg272Ile) | |
| 7 | g.117535394A>C | CA368977162 | CFTR | c.726A>C (p.Arg242Ser) c.*623A>C (n.*623A>C) c.*550A>C (n.*550A>C) c.483A>C (p.Arg161Ser) c.636A>C (p.Arg212Ser) c.816A>C (p.Arg272Ser) | |
| 7 | g.117535394A>G | CA457227270 | CFTR | c.726A>G (p.Arg242=) c.*623A>G (n.*623A>G) c.*550A>G (n.*550A>G) c.483A>G (p.Arg161=) c.636A>G (p.Arg212=) c.816A>G (p.Arg272=) | |
| 7 | g.117535394A>T | CA368977164 | CFTR | c.726A>T (p.Arg242Ser) c.*623A>T (n.*623A>T) c.*550A>T (n.*550A>T) c.483A>T (p.Arg161Ser) c.636A>T (p.Arg212Ser) c.816A>T (p.Arg272Ser) | |
| 7 | g.117535395A= | CA1737362202 | CFTR | c.727A= (p.Met243=) c.*624A= (n.*624A=) c.*551A= (n.*551A=) c.484A= (p.Met162=) c.637A= (p.Met213=) c.817A= (p.Met273=) | |
| 7 | g.117535395A>C | CA368977166 | CFTR | c.727A>C (p.Met243Leu) c.*624A>C (n.*624A>C) c.*551A>C (n.*551A>C) c.484A>C (p.Met162Leu) c.637A>C (p.Met213Leu) c.817A>C (p.Met273Leu) | |
| 7 | g.117535395A>G | CA4450810 | CFTR | c.727A>G (p.Met243Val) c.*624A>G (n.*624A>G) c.*551A>G (n.*551A>G) c.484A>G (p.Met162Val) c.637A>G (p.Met213Val) c.817A>G (p.Met273Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117535395A>T | CA368977167 | CFTR | c.727A>T (p.Met243Leu) c.*624A>T (n.*624A>T) c.*551A>T (n.*551A>T) c.484A>T (p.Met162Leu) c.637A>T (p.Met213Leu) c.817A>T (p.Met273Leu) | |
| 7 | g.117535396T>A | CA368977169 | CFTR | c.728T>A (p.Met243Lys) c.*625T>A (n.*625T>A) c.*552T>A (n.*552T>A) c.485T>A (p.Met162Lys) c.638T>A (p.Met213Lys) c.818T>A (p.Met273Lys) | |
| 7 | g.117535396T>C | CA4450811 | CFTR | c.728T>C (p.Met243Thr) c.*625T>C (n.*625T>C) c.*552T>C (n.*552T>C) c.485T>C (p.Met162Thr) c.638T>C (p.Met213Thr) c.818T>C (p.Met273Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535396T>G | CA368977171 | CFTR | c.728T>G (p.Met243Arg) c.*625T>G (n.*625T>G) c.*552T>G (n.*552T>G) c.485T>G (p.Met162Arg) c.638T>G (p.Met213Arg) c.818T>G (p.Met273Arg) | |
| 7 | g.117535396T= | CA1737362203 | CFTR | c.728T= (p.Met243=) c.*625T= (n.*625T=) c.*552T= (n.*552T=) c.485T= (p.Met162=) c.638T= (p.Met213=) c.818T= (p.Met273=) | |
| 7 | g.117535397G>A | CA368977172 | CFTR | c.729G>A (p.Met243Ile) c.*626G>A (n.*626G>A) c.*553G>A (n.*553G>A) c.486G>A (p.Met162Ile) c.639G>A (p.Met213Ile) c.819G>A (p.Met273Ile) | ClinVar COSMIC |
| 7 | g.117535397G>C | CA368977174 | CFTR | c.729G>C (p.Met243Ile) c.*626G>C (n.*626G>C) c.*553G>C (n.*553G>C) c.486G>C (p.Met162Ile) c.639G>C (p.Met213Ile) c.819G>C (p.Met273Ile) | |
| 7 | g.117535397G>T | CA368977175 | CFTR | c.729G>T (p.Met243Ile) c.*626G>T (n.*626G>T) c.*553G>T (n.*553G>T) c.486G>T (p.Met162Ile) c.639G>T (p.Met213Ile) c.819G>T (p.Met273Ile) | |
| 7 | g.117535398A= | CA1737362204 | CFTR | c.730A= (p.Met244=) c.*627A= (n.*627A=) c.*554A= (n.*554A=) c.487A= (p.Met163=) c.640A= (p.Met214=) c.820A= (p.Met274=) | |
| 7 | g.117535398A>C | CA368977177 | CFTR | c.730A>C (p.Met244Leu) c.*627A>C (n.*627A>C) c.*554A>C (n.*554A>C) c.487A>C (p.Met163Leu) c.640A>C (p.Met214Leu) c.820A>C (p.Met274Leu) | |
| 7 | g.117535398A>G | CA4450812 | CFTR | c.730A>G (p.Met244Val) c.*627A>G (n.*627A>G) c.*554A>G (n.*554A>G) c.487A>G (p.Met163Val) c.640A>G (p.Met214Val) c.820A>G (p.Met274Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117535398A>T | CA368977179 | CFTR | c.730A>T (p.Met244Leu) c.*627A>T (n.*627A>T) c.*554A>T (n.*554A>T) c.487A>T (p.Met163Leu) c.640A>T (p.Met214Leu) c.820A>T (p.Met274Leu) | |
| 7 | g.117535399T>A | CA327640 | CFTR | c.731T>A (p.Met244Lys) c.*628T>A (n.*628T>A) c.*555T>A (n.*555T>A) c.488T>A (p.Met163Lys) c.641T>A (p.Met214Lys) c.821T>A (p.Met274Lys) | ClinVar dbSNP |
| 7 | g.117535399T>C | CA368977180 | CFTR | c.731T>C (p.Met244Thr) c.*628T>C (n.*628T>C) c.*555T>C (n.*555T>C) c.488T>C (p.Met163Thr) c.641T>C (p.Met214Thr) c.821T>C (p.Met274Thr) | ClinVar |
| 7 | g.117535399T>G | CA368977182 | CFTR | c.731T>G (p.Met244Arg) c.*628T>G (n.*628T>G) c.*555T>G (n.*555T>G) c.488T>G (p.Met163Arg) c.641T>G (p.Met214Arg) c.821T>G (p.Met274Arg) | |
| 7 | g.117535399T= | CA1737362205 | CFTR | c.731T= (p.Met244=) c.*628T= (n.*628T=) c.*555T= (n.*555T=) c.488T= (p.Met163=) c.641T= (p.Met214=) c.821T= (p.Met274=) | |
| 7 | g.117535400G>A | CA368977186 | CFTR | c.732G>A (p.Met244Ile) c.*629G>A (n.*629G>A) c.*556G>A (n.*556G>A) c.489G>A (p.Met163Ile) c.642G>A (p.Met214Ile) c.822G>A (p.Met274Ile) | gnomAD v4 |
| 7 | g.117535400G>C | CA368977185 | CFTR | c.732G>C (p.Met244Ile) c.*629G>C (n.*629G>C) c.*556G>C (n.*556G>C) c.489G>C (p.Met163Ile) c.642G>C (p.Met214Ile) c.822G>C (p.Met274Ile) | dbSNP gnomAD v2 |
| 7 | g.117535400G= | CA1737362206 | CFTR | c.732G= (p.Met244=) c.*629G= (n.*629G=) c.*556G= (n.*556G=) c.489G= (p.Met163=) c.642G= (p.Met214=) c.822G= (p.Met274=) | |
| 7 | g.117535400G>T | CA368977183 | CFTR | c.732G>T (p.Met244Ile) c.*629G>T (n.*629G>T) c.*556G>T (n.*556G>T) c.489G>T (p.Met163Ile) c.642G>T (p.Met214Ile) c.822G>T (p.Met274Ile) | |
| 7 | g.117535401A>C | CA368977189 | CFTR | c.733A>C (p.Met245Leu) c.*630A>C (n.*630A>C) c.*557A>C (n.*557A>C) c.490A>C (p.Met164Leu) c.643A>C (p.Met215Leu) c.823A>C (p.Met275Leu) | |
| 7 | g.117535401A>G | CA368977191 | CFTR | c.733A>G (p.Met245Val) c.*630A>G (n.*630A>G) c.*557A>G (n.*557A>G) c.490A>G (p.Met164Val) c.643A>G (p.Met215Val) c.823A>G (p.Met275Val) | gnomAD v4 |
| 7 | g.117535401A>T | CA368977190 | CFTR | c.733A>T (p.Met245Leu) c.*630A>T (n.*630A>T) c.*557A>T (n.*557A>T) c.490A>T (p.Met164Leu) c.643A>T (p.Met215Leu) c.823A>T (p.Met275Leu) | gnomAD v4 |
| 7 | g.117535402T>A | CA368977192 | CFTR | c.734T>A (p.Met245Lys) c.*631T>A (n.*631T>A) c.*558T>A (n.*558T>A) c.491T>A (p.Met164Lys) c.644T>A (p.Met215Lys) c.824T>A (p.Met275Lys) | |
| 7 | g.117535402T>C | CA164945750 | CFTR | c.734T>C (p.Met245Thr) c.*631T>C (n.*631T>C) c.*558T>C (n.*558T>C) c.491T>C (p.Met164Thr) c.644T>C (p.Met215Thr) c.824T>C (p.Met275Thr) | dbSNP |
| 7 | g.117535402T>G | CA368977194 | CFTR | c.734T>G (p.Met245Arg) c.*631T>G (n.*631T>G) c.*558T>G (n.*558T>G) c.491T>G (p.Met164Arg) c.644T>G (p.Met215Arg) c.824T>G (p.Met275Arg) | |
| 7 | g.117535402T= | CA1737362207 | CFTR | c.734T= (p.Met245=) c.*631T= (n.*631T=) c.*558T= (n.*558T=) c.491T= (p.Met164=) c.644T= (p.Met215=) c.824T= (p.Met275=) | |
| 7 | g.117535403G>A | CA368977196 | CFTR | c.735G>A (p.Met245Ile) c.*632G>A (n.*632G>A) c.*559G>A (n.*559G>A) c.492G>A (p.Met164Ile) c.645G>A (p.Met215Ile) c.825G>A (p.Met275Ile) | gnomAD v4 |
| 7 | g.117535403G>C | CA368977197 | CFTR | c.735G>C (p.Met245Ile) c.*632G>C (n.*632G>C) c.*559G>C (n.*559G>C) c.492G>C (p.Met164Ile) c.645G>C (p.Met215Ile) c.825G>C (p.Met275Ile) | |
| 7 | g.117535403G>T | CA368977199 | CFTR | c.735G>T (p.Met245Ile) c.*632G>T (n.*632G>T) c.*559G>T (n.*559G>T) c.492G>T (p.Met164Ile) c.645G>T (p.Met215Ile) c.825G>T (p.Met275Ile) | |
| 7 | g.117535404A>C | CA368977201 | CFTR | c.736A>C (p.Lys246Gln) c.*633A>C (n.*633A>C) c.*560A>C (n.*560A>C) c.493A>C (p.Lys165Gln) c.646A>C (p.Lys216Gln) c.826A>C (p.Lys276Gln) | ClinVar |