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 |
|---|---|---|---|---|---|
| 8 | g.60816455_60816458del | CA2695209623 | CHD7 | c.2567_2570del (p.Ile856AsnfsTer?) c.1716+35405_1716+35408del (n.1716+35405_1716+35408del) c.554_557del (p.Ile185AsnfsTer?) c.104_107del (p.Ile35AsnfsTer?) | |
| 8 | g.60816456del | CA16612638 | CHD7 | c.2568del (p.Lys857AsnfsTer?) c.1716+35406del (n.1716+35406del) c.555del (p.Lys186AsnfsTer?) c.105del (p.Lys36AsnfsTer?) | ClinVar dbSNP |
| 8 | g.60816456T>A | CA460845364 | CHD7 | c.2568T>A (p.Ile856=) c.1716+35406T>A (n.1716+35406T>A) c.555T>A (p.Ile185=) c.105T>A (p.Ile35=) | gnomAD v4 |
| 8 | g.60816456T>C | CA460845365 | CHD7 | c.2568T>C (p.Ile856=) c.1716+35406T>C (n.1716+35406T>C) c.555T>C (p.Ile185=) c.105T>C (p.Ile35=) | |
| 8 | g.60816456T>G | CA371306205 | CHD7 | c.2568T>G (p.Ile856Met) c.1716+35406T>G (n.1716+35406T>G) c.555T>G (p.Ile185Met) c.105T>G (p.Ile35Met) | |
| 8 | g.60816457A>C | CA371306209 | CHD7 | c.2569A>C (p.Lys857Gln) c.1716+35407A>C (n.1716+35407A>C) c.556A>C (p.Lys186Gln) c.106A>C (p.Lys36Gln) | |
| 8 | g.60816457A>G | CA371306210 | CHD7 | c.2569A>G (p.Lys857Glu) c.1716+35407A>G (n.1716+35407A>G) c.556A>G (p.Lys186Glu) c.106A>G (p.Lys36Glu) | |
| 8 | g.60816457A>T | CA371306213 | CHD7 | c.2569A>T (p.Lys857Ter) c.1716+35407A>T (n.1716+35407A>T) c.556A>T (p.Lys186Ter) c.106A>T (p.Lys36Ter) | |
| 8 | g.60816459dup | CA2695209624 | CHD7 | c.2571dup (p.Arg858ThrfsTer3) c.1716+35409dup (n.1716+35409dup) c.558dup (p.Arg187ThrfsTer3) c.108dup (p.Arg37ThrfsTer3) | |
| 8 | g.60816458A>C | CA371306215 | CHD7 | c.2570A>C (p.Lys857Thr) c.1716+35408A>C (n.1716+35408A>C) c.557A>C (p.Lys186Thr) c.107A>C (p.Lys36Thr) | |
| 8 | g.60816458A>G | CA371306217 | CHD7 | c.2570A>G (p.Lys857Arg) c.1716+35408A>G (n.1716+35408A>G) c.557A>G (p.Lys186Arg) c.107A>G (p.Lys36Arg) | |
| 8 | g.60816458A>T | CA371306219 | CHD7 | c.2570A>T (p.Lys857Ile) c.1716+35408A>T (n.1716+35408A>T) c.557A>T (p.Lys186Ile) c.107A>T (p.Lys36Ile) | |
| 8 | g.60816459A>C | CA371306221 | CHD7 | c.2571A>C (p.Lys857Asn) c.1716+35409A>C (n.1716+35409A>C) c.558A>C (p.Lys186Asn) c.108A>C (p.Lys36Asn) | |
| 8 | g.60816459A>G | CA460845366 | CHD7 | c.2571A>G (p.Lys857=) c.1716+35409A>G (n.1716+35409A>G) c.558A>G (p.Lys186=) c.108A>G (p.Lys36=) | gnomAD v4 |
| 8 | g.60816459A>T | CA371306223 | CHD7 | c.2571A>T (p.Lys857Asn) c.1716+35409A>T (n.1716+35409A>T) c.558A>T (p.Lys186Asn) c.108A>T (p.Lys36Asn) | |
| 8 | g.60816460C>A | CA460845367 | CHD7 | c.2572C>A (p.Arg858=) c.1716+35410C>A (n.1716+35410C>A) c.559C>A (p.Arg187=) c.109C>A (p.Arg37=) | gnomAD v4 |
| 8 | g.60816460C= | CA1788137498 | CHD7 | c.2572C= (p.Arg858=) c.1716+35410C= (n.1716+35410C=) c.559C= (p.Arg187=) c.109C= (p.Arg37=) | |
| 8 | g.60816460C>G | CA371306228 | CHD7 | c.2572C>G (p.Arg858Gly) c.1716+35410C>G (n.1716+35410C>G) c.559C>G (p.Arg187Gly) c.109C>G (p.Arg37Gly) | |
| 8 | g.60816460C>T | CA371306226 | CHD7 | c.2572C>T (p.Arg858Ter) c.1716+35410C>T (n.1716+35410C>T) c.559C>T (p.Arg187Ter) c.109C>T (p.Arg37Ter) | ClinVar dbSNP COSMIC |
| 8 | g.60816461G>A | CA371306231 | CHD7 | c.2573G>A (p.Arg858Gln) c.1716+35411G>A (n.1716+35411G>A) c.560G>A (p.Arg187Gln) c.110G>A (p.Arg37Gln) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60816461G>C | CA371306234 | CHD7 | c.2573G>C (p.Arg858Pro) c.1716+35411G>C (n.1716+35411G>C) c.560G>C (p.Arg187Pro) c.110G>C (p.Arg37Pro) | |
| 8 | g.60816461G>T | CA371306236 | CHD7 | c.2573G>T (p.Arg858Leu) c.1716+35411G>T (n.1716+35411G>T) c.560G>T (p.Arg187Leu) c.110G>T (p.Arg37Leu) | gnomAD v4 |
| 8 | g.60816462A>C | CA460845368 | CHD7 | c.2574A>C (p.Arg858=) c.1716+35412A>C (n.1716+35412A>C) c.561A>C (p.Arg187=) c.111A>C (p.Arg37=) | |
| 8 | g.60816462A>G | CA460845369 | CHD7 | c.2574A>G (p.Arg858=) c.1716+35412A>G (n.1716+35412A>G) c.561A>G (p.Arg187=) c.111A>G (p.Arg37=) | |
| 8 | g.60816462A>T | CA460845370 | CHD7 | c.2574A>T (p.Arg858=) c.1716+35412A>T (n.1716+35412A>T) c.561A>T (p.Arg187=) c.111A>T (p.Arg37=) | |
| 8 | g.60816463T>A | CA371306238 | CHD7 | c.2575T>A (p.Phe859Ile) c.1716+35413T>A (n.1716+35413T>A) c.562T>A (p.Phe188Ile) c.112T>A (p.Phe38Ile) | |
| 8 | g.60816463T>C | CA371306239 | CHD7 | c.2575T>C (p.Phe859Leu) c.1716+35413T>C (n.1716+35413T>C) c.562T>C (p.Phe188Leu) c.112T>C (p.Phe38Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60816463T>G | CA371306240 | CHD7 | c.2575T>G (p.Phe859Val) c.1716+35413T>G (n.1716+35413T>G) c.562T>G (p.Phe188Val) c.112T>G (p.Phe38Val) | |
| 8 | g.60816463T= | CA1788138361 | CHD7 | c.2575T= (p.Phe859=) c.1716+35413T= (n.1716+35413T=) c.562T= (p.Phe188=) c.112T= (p.Phe38=) | |
| 8 | g.60816465dup | CA2695209625 | CHD7 | c.2577dup (p.Lys860Ter) c.1716+35415dup (n.1716+35415dup) c.564dup (p.Lys189Ter) c.114dup (p.Lys39Ter) | |
| 8 | g.60816464T>A | CA371306243 | CHD7 | c.2576T>A (p.Phe859Tyr) c.1716+35414T>A (n.1716+35414T>A) c.563T>A (p.Phe188Tyr) c.113T>A (p.Phe38Tyr) | |
| 8 | g.60816464T>C | CA371306244 | CHD7 | c.2576T>C (p.Phe859Ser) c.1716+35414T>C (n.1716+35414T>C) c.563T>C (p.Phe188Ser) c.113T>C (p.Phe38Ser) | |
| 8 | g.60816464T>G | CA371306246 | CHD7 | c.2576T>G (p.Phe859Cys) c.1716+35414T>G (n.1716+35414T>G) c.563T>G (p.Phe188Cys) c.113T>G (p.Phe38Cys) | |
| 8 | g.60816465T>A | CA371306248 | CHD7 | c.2577T>A (p.Phe859Leu) c.1716+35415T>A (n.1716+35415T>A) c.564T>A (p.Phe188Leu) c.114T>A (p.Phe38Leu) | |
| 8 | g.60816465T>C | CA460845371 | CHD7 | c.2577T>C (p.Phe859=) c.1716+35415T>C (n.1716+35415T>C) c.564T>C (p.Phe188=) c.114T>C (p.Phe38=) | |
| 8 | g.60816465T>G | CA371306249 | CHD7 | c.2577T>G (p.Phe859Leu) c.1716+35415T>G (n.1716+35415T>G) c.564T>G (p.Phe188Leu) c.114T>G (p.Phe38Leu) | |
| 8 | g.60816466A>C | CA371306255 | CHD7 | c.2578A>C (p.Lys860Gln) c.1716+35416A>C (n.1716+35416A>C) c.565A>C (p.Lys189Gln) c.115A>C (p.Lys39Gln) | |
| 8 | g.60816466A>G | CA371306254 | CHD7 | c.2578A>G (p.Lys860Glu) c.1716+35416A>G (n.1716+35416A>G) c.565A>G (p.Lys189Glu) c.115A>G (p.Lys39Glu) | gnomAD v4 |
| 8 | g.60816466A>T | CA371306252 | CHD7 | c.2578A>T (p.Lys860Ter) c.1716+35416A>T (n.1716+35416A>T) c.565A>T (p.Lys189Ter) c.115A>T (p.Lys39Ter) | |
| 8 | g.60816467A>C | CA371306258 | CHD7 | c.2579A>C (p.Lys860Thr) c.1716+35417A>C (n.1716+35417A>C) c.566A>C (p.Lys189Thr) c.116A>C (p.Lys39Thr) | |
| 8 | g.60816467A>G | CA371306260 | CHD7 | c.2579A>G (p.Lys860Arg) c.1716+35417A>G (n.1716+35417A>G) c.566A>G (p.Lys189Arg) c.116A>G (p.Lys39Arg) | |
| 8 | g.60816467A>T | CA371306259 | CHD7 | c.2579A>T (p.Lys860Met) c.1716+35417A>T (n.1716+35417A>T) c.566A>T (p.Lys189Met) c.116A>T (p.Lys39Met) | |
| 8 | g.60816468G>A | CA460845372 | CHD7 | c.2580G>A (p.Lys860=) c.1716+35418G>A (n.1716+35418G>A) c.567G>A (p.Lys189=) c.117G>A (p.Lys39=) | gnomAD v4 |
| 8 | g.60816468G>C | CA371306261 | CHD7 | c.2580G>C (p.Lys860Asn) c.1716+35418G>C (n.1716+35418G>C) c.567G>C (p.Lys189Asn) c.117G>C (p.Lys39Asn) | |
| 8 | g.60816468G>T | CA371306263 | CHD7 | c.2580G>T (p.Lys860Asn) c.1716+35418G>T (n.1716+35418G>T) c.567G>T (p.Lys189Asn) c.117G>T (p.Lys39Asn) | |
| 8 | g.60816469G>A | CA371306266 | CHD7 | c.2581G>A (p.Ala861Thr) c.1716+35419G>A (n.1716+35419G>A) c.568G>A (p.Ala190Thr) c.118G>A (p.Ala40Thr) | gnomAD v4 |
| 8 | g.60816469G>C | CA371306268 | CHD7 | c.2581G>C (p.Ala861Pro) c.1716+35419G>C (n.1716+35419G>C) c.568G>C (p.Ala190Pro) c.118G>C (p.Ala40Pro) | |
| 8 | g.60816469G>T | CA371306269 | CHD7 | c.2581G>T (p.Ala861Ser) c.1716+35419G>T (n.1716+35419G>T) c.568G>T (p.Ala190Ser) c.118G>T (p.Ala40Ser) | |
| 8 | g.60816470C>A | CA371306271 | CHD7 | c.2582C>A (p.Ala861Glu) c.1716+35420C>A (n.1716+35420C>A) c.569C>A (p.Ala190Glu) c.119C>A (p.Ala40Glu) | gnomAD v4 |
| 8 | g.60816470C>G | CA371306273 | CHD7 | c.2582C>G (p.Ala861Gly) c.1716+35420C>G (n.1716+35420C>G) c.569C>G (p.Ala190Gly) c.119C>G (p.Ala40Gly) |