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 |
|---|---|---|---|---|---|
| 3 | g.142515436_142515438delinsCAA | CA1407011976 | ATR | c.4460_4462delinsTTG (p.Phe1487=) n.4489_4491delinsTTG c.3250_3252delinsTTG c.4268_4270delinsTTG (p.Phe1423=) c.4466_4468delinsTTG (p.Phe1489=) c.4274_4276delinsTTG (p.Phe1425=) n.4555_4557delinsTTG n.4549_4551delinsTTG | |
| 3 | g.142515438_142515439del | CA2649845 | ATR | c.4460_4461del (p.Phe1487CysfsTer18) n.4489_4490del c.3250_3251del c.4268_4269del (p.Phe1423CysfsTer18) c.4466_4467del (p.Phe1489CysfsTer18) c.4274_4275del (p.Phe1425CysfsTer18) n.4555_4556del n.4549_4550del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.142515438A>C | CA354798075 | ATR | c.4460T>G (p.Phe1487Cys) n.4489T>G c.3250T>G c.4268T>G (p.Phe1423Cys) c.4466T>G (p.Phe1489Cys) c.4274T>G (p.Phe1425Cys) n.4555T>G n.4549T>G | |
| 3 | g.142515438A>G | CA354798064 | ATR | c.4460T>C (p.Phe1487Ser) n.4489T>C c.3250T>C c.4268T>C (p.Phe1423Ser) c.4466T>C (p.Phe1489Ser) c.4274T>C (p.Phe1425Ser) n.4555T>C n.4549T>C | |
| 3 | g.142515438A>T | CA354798066 | ATR | c.4460T>A (p.Phe1487Tyr) n.4489T>A c.3250T>A c.4268T>A (p.Phe1423Tyr) c.4466T>A (p.Phe1489Tyr) c.4274T>A (p.Phe1425Tyr) n.4555T>A n.4549T>A | |
| 3 | g.142515439A>C | CA354798076 | ATR | c.4459T>G (p.Phe1487Val) n.4488T>G c.3249T>G c.4267T>G (p.Phe1423Val) c.4465T>G (p.Phe1489Val) c.4273T>G (p.Phe1425Val) n.4554T>G n.4548T>G | |
| 3 | g.142515439A>G | CA354798077 | ATR | c.4459T>C (p.Phe1487Leu) n.4488T>C c.3249T>C c.4267T>C (p.Phe1423Leu) c.4465T>C (p.Phe1489Leu) c.4273T>C (p.Phe1425Leu) n.4554T>C n.4548T>C | |
| 3 | g.142515439A>T | CA354798078 | ATR | c.4459T>A (p.Phe1487Ile) n.4488T>A c.3249T>A c.4267T>A (p.Phe1423Ile) c.4465T>A (p.Phe1489Ile) c.4273T>A (p.Phe1425Ile) n.4554T>A n.4548T>A | |
| 3 | g.142515440G>A | CA436108055 | ATR | c.4458C>T (p.Asn1486=) n.4487C>T c.3248C>T c.4266C>T (p.Asn1422=) c.4464C>T (p.Asn1488=) c.4272C>T (p.Asn1424=) n.4553C>T n.4547C>T | |
| 3 | g.142515440G>C | CA354798079 | ATR | c.4458C>G (p.Asn1486Lys) n.4487C>G c.3248C>G c.4266C>G (p.Asn1422Lys) c.4464C>G (p.Asn1488Lys) c.4272C>G (p.Asn1424Lys) n.4553C>G n.4547C>G | |
| 3 | g.142515440G>T | CA354798081 | ATR | c.4458C>A (p.Asn1486Lys) n.4487C>A c.3248C>A c.4266C>A (p.Asn1422Lys) c.4464C>A (p.Asn1488Lys) c.4272C>A (p.Asn1424Lys) n.4553C>A n.4547C>A | |
| 3 | g.142515441T>A | CA354798087 | ATR | c.4457A>T (p.Asn1486Ile) n.4486A>T c.3247A>T c.4265A>T (p.Asn1422Ile) c.4463A>T (p.Asn1488Ile) c.4271A>T (p.Asn1424Ile) n.4552A>T n.4546A>T | |
| 3 | g.142515441T>C | CA354798093 | ATR | c.4457A>G (p.Asn1486Ser) n.4486A>G c.3247A>G c.4265A>G (p.Asn1422Ser) c.4463A>G (p.Asn1488Ser) c.4271A>G (p.Asn1424Ser) n.4552A>G n.4546A>G | |
| 3 | g.142515441T>G | CA354798096 | ATR | c.4457A>C (p.Asn1486Thr) n.4486A>C c.3247A>C c.4265A>C (p.Asn1422Thr) c.4463A>C (p.Asn1488Thr) c.4271A>C (p.Asn1424Thr) n.4552A>C n.4546A>C | |
| 3 | g.142515442T>A | CA354798099 | ATR | c.4456A>T (p.Asn1486Tyr) n.4485A>T c.3246A>T c.4264A>T (p.Asn1422Tyr) c.4462A>T (p.Asn1488Tyr) c.4270A>T (p.Asn1424Tyr) n.4551A>T n.4545A>T | |
| 3 | g.142515442T>C | CA354798104 | ATR | c.4456A>G (p.Asn1486Asp) n.4485A>G c.3246A>G c.4264A>G (p.Asn1422Asp) c.4462A>G (p.Asn1488Asp) c.4270A>G (p.Asn1424Asp) n.4551A>G n.4545A>G | |
| 3 | g.142515442T>G | CA354798109 | ATR | c.4456A>C (p.Asn1486His) n.4485A>C c.3246A>C c.4264A>C (p.Asn1422His) c.4462A>C (p.Asn1488His) c.4270A>C (p.Asn1424His) n.4551A>C n.4545A>C | |
| 3 | g.142515443A>C | CA354798115 | ATR | c.4455T>G (p.Ser1485Arg) n.4484T>G c.3245T>G c.4263T>G (p.Ser1421Arg) c.4461T>G (p.Ser1487Arg) c.4269T>G (p.Ser1423Arg) n.4550T>G n.4544T>G | |
| 3 | g.142515443A>G | CA436108065 | ATR | c.4455T>C (p.Ser1485=) n.4484T>C c.3245T>C c.4263T>C (p.Ser1421=) c.4461T>C (p.Ser1487=) c.4269T>C (p.Ser1423=) n.4550T>C n.4544T>C | |
| 3 | g.142515443A>T | CA354798121 | ATR | c.4455T>A (p.Ser1485Arg) n.4484T>A c.3245T>A c.4263T>A (p.Ser1421Arg) c.4461T>A (p.Ser1487Arg) c.4269T>A (p.Ser1423Arg) n.4550T>A n.4544T>A | |
| 3 | g.142515444C>A | CA354798124 | ATR | c.4454G>T (p.Ser1485Ile) n.4483G>T c.3244G>T c.4262G>T (p.Ser1421Ile) c.4460G>T (p.Ser1487Ile) c.4268G>T (p.Ser1423Ile) n.4549G>T n.4543G>T | |
| 3 | g.142515444C>G | CA354798145 | ATR | c.4454G>C (p.Ser1485Thr) n.4483G>C c.3244G>C c.4262G>C (p.Ser1421Thr) c.4460G>C (p.Ser1487Thr) c.4268G>C (p.Ser1423Thr) n.4549G>C n.4543G>C | |
| 3 | g.142515444C>T | CA354798134 | ATR | c.4454G>A (p.Ser1485Asn) n.4483G>A c.3244G>A c.4262G>A (p.Ser1421Asn) c.4460G>A (p.Ser1487Asn) c.4268G>A (p.Ser1423Asn) n.4549G>A n.4543G>A | gnomAD v4 |
| 3 | g.142515445T>A | CA354798151 | ATR | c.4453A>T (p.Ser1485Cys) n.4482A>T c.3243A>T c.4261A>T (p.Ser1421Cys) c.4459A>T (p.Ser1487Cys) c.4267A>T (p.Ser1423Cys) n.4548A>T n.4542A>T | |
| 3 | g.142515445T>C | CA2649846 | ATR | c.4453A>G (p.Ser1485Gly) n.4482A>G c.3243A>G c.4261A>G (p.Ser1421Gly) c.4459A>G (p.Ser1487Gly) c.4267A>G (p.Ser1423Gly) n.4548A>G n.4542A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.142515445T>G | CA354798152 | ATR | c.4453A>C (p.Ser1485Arg) n.4482A>C c.3243A>C c.4261A>C (p.Ser1421Arg) c.4459A>C (p.Ser1487Arg) c.4267A>C (p.Ser1423Arg) n.4548A>C n.4542A>C | |
| 3 | g.142515445T= | CA1407011978 | ATR | c.4453A= (p.Ser1485=) n.4482A= c.3243A= c.4261A= (p.Ser1421=) c.4459A= (p.Ser1487=) c.4267A= (p.Ser1423=) n.4548A= n.4542A= | |
| 3 | g.142515446A= | CA1407011979 | ATR | c.4452T= (p.Gly1484=) n.4481T= c.3242T= c.4260T= (p.Gly1420=) c.4458T= (p.Gly1486=) c.4266T= (p.Gly1422=) n.4547T= n.4541T= | |
| 3 | g.142515446A>C | CA436108086 | ATR | c.4452T>G (p.Gly1484=) n.4481T>G c.3242T>G c.4260T>G (p.Gly1420=) c.4458T>G (p.Gly1486=) c.4266T>G (p.Gly1422=) n.4547T>G n.4541T>G | |
| 3 | g.142515446A>G | CA436108084 | ATR | c.4452T>C (p.Gly1484=) n.4481T>C c.3242T>C c.4260T>C (p.Gly1420=) c.4458T>C (p.Gly1486=) c.4266T>C (p.Gly1422=) n.4547T>C n.4541T>C | dbSNP |
| 3 | g.142515446A>T | CA436108085 | ATR | c.4452T>A (p.Gly1484=) n.4481T>A c.3242T>A c.4260T>A (p.Gly1420=) c.4458T>A (p.Gly1486=) c.4266T>A (p.Gly1422=) n.4547T>A n.4541T>A | |
| 3 | g.142515447C>A | CA354798153 | ATR | c.4451G>T (p.Gly1484Val) n.4480G>T c.3241G>T c.4259G>T (p.Gly1420Val) c.4457G>T (p.Gly1486Val) c.4265G>T (p.Gly1422Val) n.4546G>T n.4540G>T | |
| 3 | g.142515447C>G | CA354798154 | ATR | c.4451G>C (p.Gly1484Ala) n.4480G>C c.3241G>C c.4259G>C (p.Gly1420Ala) c.4457G>C (p.Gly1486Ala) c.4265G>C (p.Gly1422Ala) n.4546G>C n.4540G>C | |
| 3 | g.142515447C>T | CA354798158 | ATR | c.4451G>A (p.Gly1484Asp) n.4480G>A c.3241G>A c.4259G>A (p.Gly1420Asp) c.4457G>A (p.Gly1486Asp) c.4265G>A (p.Gly1422Asp) n.4546G>A n.4540G>A | dbSNP gnomAD v4 |
| 3 | g.142515447_142515450delinsCCCA | CA1407011980 | ATR | c.4448_4451delinsTGGG (p.Leu1483=) n.4477_4480delinsTGGG c.3238_3241delinsTGGG c.4256_4259delinsTGGG (p.Leu1419=) c.4454_4457delinsTGGG (p.Leu1485=) c.4262_4265delinsTGGG (p.Leu1421=) n.4543_4546delinsTGGG n.4537_4540delinsTGGG | |
| 3 | g.142515448C>A | CA354798163 | ATR | c.4450G>T (p.Gly1484Cys) n.4479G>T c.3240G>T c.4258G>T (p.Gly1420Cys) c.4456G>T (p.Gly1486Cys) c.4264G>T (p.Gly1422Cys) n.4545G>T n.4539G>T | ClinVar |
| 3 | g.142515448C= | CA1407011981 | ATR | c.4450G= (p.Gly1484=) n.4479G= c.3240G= c.4258G= (p.Gly1420=) c.4456G= (p.Gly1486=) c.4264G= (p.Gly1422=) n.4545G= n.4539G= | |
| 3 | g.142515448C>G | CA354798165 | ATR | c.4450G>C (p.Gly1484Arg) n.4479G>C c.3240G>C c.4258G>C (p.Gly1420Arg) c.4456G>C (p.Gly1486Arg) c.4264G>C (p.Gly1422Arg) n.4545G>C n.4539G>C | |
| 3 | g.142515448C>T | CA2649848 | ATR | c.4450G>A (p.Gly1484Ser) n.4479G>A c.3240G>A c.4258G>A (p.Gly1420Ser) c.4456G>A (p.Gly1486Ser) c.4264G>A (p.Gly1422Ser) n.4545G>A n.4539G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.142515448_142515450del | CA2649847 | ATR | c.4448_4450del (p.Leu1483_Gly1484delinsCys) n.4477_4479del c.3238_3240del c.4256_4258del (p.Leu1419_Gly1420delinsCys) c.4454_4456del (p.Leu1485_Gly1486delinsCys) c.4262_4264del (p.Leu1421_Gly1422delinsCys) n.4543_4545del n.4537_4539del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.142515449C>A | CA354798166 | ATR | c.4449G>T (p.Leu1483Phe) n.4478G>T c.3239G>T c.4257G>T (p.Leu1419Phe) c.4455G>T (p.Leu1485Phe) c.4263G>T (p.Leu1421Phe) n.4544G>T n.4538G>T | dbSNP |
| 3 | g.142515449C>G | CA354798168 | ATR | c.4449G>C (p.Leu1483Phe) n.4478G>C c.3239G>C c.4257G>C (p.Leu1419Phe) c.4455G>C (p.Leu1485Phe) c.4263G>C (p.Leu1421Phe) n.4544G>C n.4538G>C | |
| 3 | g.142515449C>T | CA436108102 | ATR | c.4449G>A (p.Leu1483=) n.4478G>A c.3239G>A c.4257G>A (p.Leu1419=) c.4455G>A (p.Leu1485=) c.4263G>A (p.Leu1421=) n.4544G>A n.4538G>A | |
| 3 | g.142515450A>C | CA354798177 | ATR | c.4448T>G (p.Leu1483Trp) n.4477T>G c.3238T>G c.4256T>G (p.Leu1419Trp) c.4454T>G (p.Leu1485Trp) c.4262T>G (p.Leu1421Trp) n.4543T>G n.4537T>G | |
| 3 | g.142515450A>G | CA354798175 | ATR | c.4448T>C (p.Leu1483Ser) n.4477T>C c.3238T>C c.4256T>C (p.Leu1419Ser) c.4454T>C (p.Leu1485Ser) c.4262T>C (p.Leu1421Ser) n.4543T>C n.4537T>C | |
| 3 | g.142515450A>T | CA354798173 | ATR | c.4448T>A (p.Leu1483Ter) n.4477T>A c.3238T>A c.4256T>A (p.Leu1419Ter) c.4454T>A (p.Leu1485Ter) c.4262T>A (p.Leu1421Ter) n.4543T>A n.4537T>A | |
| 3 | g.142515451A= | CA1407011982 | ATR | c.4447T= (p.Leu1483=) n.4476T= c.3237T= c.4255T= (p.Leu1419=) c.4453T= (p.Leu1485=) c.4261T= (p.Leu1421=) n.4542T= n.4536T= | |
| 3 | g.142515451A>C | CA354798178 | ATR | c.4447T>G (p.Leu1483Val) n.4476T>G c.3237T>G c.4255T>G (p.Leu1419Val) c.4453T>G (p.Leu1485Val) c.4261T>G (p.Leu1421Val) n.4542T>G n.4536T>G | |
| 3 | g.142515451A>G | CA2649849 | ATR | c.4447T>C (p.Leu1483=) n.4476T>C c.3237T>C c.4255T>C (p.Leu1419=) c.4453T>C (p.Leu1485=) c.4261T>C (p.Leu1421=) n.4542T>C n.4536T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.142515451A>T | CA354798182 | ATR | c.4447T>A (p.Leu1483Met) n.4476T>A c.3237T>A c.4255T>A (p.Leu1419Met) c.4453T>A (p.Leu1485Met) c.4261T>A (p.Leu1421Met) n.4542T>A n.4536T>A |