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.43577066C>A | CA352343952 | ANO10 | c.788G>T (p.Arg263Leu) c.593-2202G>T (n.593-2202G>T) c.590G>T (p.Arg197Leu) c.473-11339G>T (n.473-11339G>T) c.455G>T (p.Arg152Leu) n.904G>T | |
| 3 | g.43577066C= | CA1360853193 | ANO10 | c.788G= (p.Arg263=) c.593-2202G= (n.593-2202G=) c.590G= (p.Arg197=) c.473-11339G= (n.473-11339G=) c.455G= (p.Arg152=) n.904G= | |
| 3 | g.43577066C>G | CA352343953 | ANO10 | c.788G>C (p.Arg263Pro) c.593-2202G>C (n.593-2202G>C) c.590G>C (p.Arg197Pro) c.473-11339G>C (n.473-11339G>C) c.455G>C (p.Arg152Pro) n.904G>C | |
| 3 | g.43577066C>T | CA2340947 | ANO10 | c.788G>A (p.Arg263His) c.593-2202G>A (n.593-2202G>A) c.590G>A (p.Arg197His) c.473-11339G>A (n.473-11339G>A) c.455G>A (p.Arg152His) n.904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.43577067G>A | CA2340948 | ANO10 | c.787C>T (p.Arg263Cys) c.593-2203C>T (n.593-2203C>T) c.589C>T (p.Arg197Cys) c.473-11340C>T (n.473-11340C>T) c.454C>T (p.Arg152Cys) n.903C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.43577067G>C | CA352343954 | ANO10 | c.787C>G (p.Arg263Gly) c.593-2203C>G (n.593-2203C>G) c.589C>G (p.Arg197Gly) c.473-11340C>G (n.473-11340C>G) c.454C>G (p.Arg152Gly) n.903C>G | |
| 3 | g.43577067G= | CA1360853194 | ANO10 | c.787C= (p.Arg263=) c.593-2203C= (n.593-2203C=) c.589C= (p.Arg197=) c.473-11340C= (n.473-11340C=) c.454C= (p.Arg152=) n.903C= | |
| 3 | g.43577067G>T | CA2340949 | ANO10 | c.787C>A (p.Arg263Ser) c.593-2203C>A (n.593-2203C>A) c.589C>A (p.Arg197Ser) c.473-11340C>A (n.473-11340C>A) c.454C>A (p.Arg152Ser) n.903C>A | dbSNP ExAC |
| 3 | g.43577068C>A | CA352343956 | ANO10 | c.786G>T (p.Lys262Asn) c.593-2204G>T (n.593-2204G>T) c.588G>T (p.Lys196Asn) c.473-11341G>T (n.473-11341G>T) c.453G>T (p.Lys151Asn) n.902G>T | dbSNP gnomAD v2 |
| 3 | g.43577068C= | CA1360853195 | ANO10 | c.786G= (p.Lys262=) c.593-2204G= (n.593-2204G=) c.588G= (p.Lys196=) c.473-11341G= (n.473-11341G=) c.453G= (p.Lys151=) n.902G= | |
| 3 | g.43577068C>G | CA352343955 | ANO10 | c.786G>C (p.Lys262Asn) c.593-2204G>C (n.593-2204G>C) c.588G>C (p.Lys196Asn) c.473-11341G>C (n.473-11341G>C) c.453G>C (p.Lys151Asn) n.902G>C | |
| 3 | g.43577068C>T | CA433573797 | ANO10 | c.786G>A (p.Lys262=) c.593-2204G>A (n.593-2204G>A) c.588G>A (p.Lys196=) c.473-11341G>A (n.473-11341G>A) c.453G>A (p.Lys151=) n.902G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.43577069T>A | CA352343957 | ANO10 | c.785A>T (p.Lys262Met) c.593-2205A>T (n.593-2205A>T) c.587A>T (p.Lys196Met) c.473-11342A>T (n.473-11342A>T) c.452A>T (p.Lys151Met) n.901A>T | gnomAD v4 |
| 3 | g.43577069T>C | CA352343959 | ANO10 | c.785A>G (p.Lys262Arg) c.593-2205A>G (n.593-2205A>G) c.587A>G (p.Lys196Arg) c.473-11342A>G (n.473-11342A>G) c.452A>G (p.Lys151Arg) n.901A>G | |
| 3 | g.43577069T>G | CA352343958 | ANO10 | c.785A>C (p.Lys262Thr) c.593-2205A>C (n.593-2205A>C) c.587A>C (p.Lys196Thr) c.473-11342A>C (n.473-11342A>C) c.452A>C (p.Lys151Thr) n.901A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.43577069T= | CA1360853196 | ANO10 | c.785A= (p.Lys262=) c.593-2205A= (n.593-2205A=) c.587A= (p.Lys196=) c.473-11342A= (n.473-11342A=) c.452A= (p.Lys151=) n.901A= | |
| 3 | g.43577070T>A | CA352343960 | ANO10 | c.784A>T (p.Lys262Ter) c.593-2206A>T (n.593-2206A>T) c.586A>T (p.Lys196Ter) c.473-11343A>T (n.473-11343A>T) c.451A>T (p.Lys151Ter) n.900A>T | |
| 3 | g.43577070T>C | CA352343961 | ANO10 | c.784A>G (p.Lys262Glu) c.593-2206A>G (n.593-2206A>G) c.586A>G (p.Lys196Glu) c.473-11343A>G (n.473-11343A>G) c.451A>G (p.Lys151Glu) n.900A>G | |
| 3 | g.43577070T>G | CA352343962 | ANO10 | c.784A>C (p.Lys262Gln) c.593-2206A>C (n.593-2206A>C) c.586A>C (p.Lys196Gln) c.473-11343A>C (n.473-11343A>C) c.451A>C (p.Lys151Gln) n.900A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.43577070T= | CA1360853197 | ANO10 | c.784A= (p.Lys262=) c.593-2206A= (n.593-2206A=) c.586A= (p.Lys196=) c.473-11343A= (n.473-11343A=) c.451A= (p.Lys151=) n.900A= | |
| 3 | g.43577071C>A | CA352343963 | ANO10 | c.783G>T (p.Trp261Cys) c.593-2207G>T (n.593-2207G>T) c.585G>T (p.Trp195Cys) c.473-11344G>T (n.473-11344G>T) c.450G>T (p.Trp150Cys) n.899G>T | gnomAD v4 |
| 3 | g.43577071C= | CA1360853198 | ANO10 | c.783G= (p.Trp261=) c.593-2207G= (n.593-2207G=) c.585G= (p.Trp195=) c.473-11344G= (n.473-11344G=) c.450G= (p.Trp150=) n.899G= | |
| 3 | g.43577071C>G | CA352343964 | ANO10 | c.783G>C (p.Trp261Cys) c.593-2207G>C (n.593-2207G>C) c.585G>C (p.Trp195Cys) c.473-11344G>C (n.473-11344G>C) c.450G>C (p.Trp150Cys) n.899G>C | |
| 3 | g.43577071C>T | CA352343965 | ANO10 | c.783G>A (p.Trp261Ter) c.593-2207G>A (n.593-2207G>A) c.585G>A (p.Trp195Ter) c.473-11344G>A (n.473-11344G>A) c.450G>A (p.Trp150Ter) n.899G>A | dbSNP gnomAD v4 |
| 3 | g.43577072C>A | CA352343966 | ANO10 | c.782G>T (p.Trp261Leu) c.593-2208G>T (n.593-2208G>T) c.584G>T (p.Trp195Leu) c.473-11345G>T (n.473-11345G>T) c.449G>T (p.Trp150Leu) n.898G>T | |
| 3 | g.43577072C>G | CA352343967 | ANO10 | c.782G>C (p.Trp261Ser) c.593-2208G>C (n.593-2208G>C) c.584G>C (p.Trp195Ser) c.473-11345G>C (n.473-11345G>C) c.449G>C (p.Trp150Ser) n.898G>C | |
| 3 | g.43577072C>T | CA352343968 | ANO10 | c.782G>A (p.Trp261Ter) c.593-2208G>A (n.593-2208G>A) c.584G>A (p.Trp195Ter) c.473-11345G>A (n.473-11345G>A) c.449G>A (p.Trp150Ter) n.898G>A | |
| 3 | g.43577073A>C | CA352343969 | ANO10 | c.781T>G (p.Trp261Gly) c.593-2209T>G (n.593-2209T>G) c.583T>G (p.Trp195Gly) c.473-11346T>G (n.473-11346T>G) c.448T>G (p.Trp150Gly) n.897T>G | |
| 3 | g.43577073A>G | CA352343970 | ANO10 | c.781T>C (p.Trp261Arg) c.593-2209T>C (n.593-2209T>C) c.583T>C (p.Trp195Arg) c.473-11346T>C (n.473-11346T>C) c.448T>C (p.Trp150Arg) n.897T>C | |
| 3 | g.43577073A>T | CA352343971 | ANO10 | c.781T>A (p.Trp261Arg) c.593-2209T>A (n.593-2209T>A) c.583T>A (p.Trp195Arg) c.473-11346T>A (n.473-11346T>A) c.448T>A (p.Trp150Arg) n.897T>A | |
| 3 | g.43577074C>A | CA433573811 | ANO10 | c.780G>T (p.Leu260=) c.593-2210G>T (n.593-2210G>T) c.582G>T (p.Leu194=) c.473-11347G>T (n.473-11347G>T) c.447G>T (p.Leu149=) n.896G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.43577074C= | CA1360853199 | ANO10 | c.780G= (p.Leu260=) c.593-2210G= (n.593-2210G=) c.582G= (p.Leu194=) c.473-11347G= (n.473-11347G=) c.447G= (p.Leu149=) n.896G= | |
| 3 | g.43577074C>G | CA433573813 | ANO10 | c.780G>C (p.Leu260=) c.593-2210G>C (n.593-2210G>C) c.582G>C (p.Leu194=) c.473-11347G>C (n.473-11347G>C) c.447G>C (p.Leu149=) n.896G>C | |
| 3 | g.43577074C>T | CA433573815 | ANO10 | c.780G>A (p.Leu260=) c.593-2210G>A (n.593-2210G>A) c.582G>A (p.Leu194=) c.473-11347G>A (n.473-11347G>A) c.447G>A (p.Leu149=) n.896G>A | |
| 3 | g.43577075A= | CA1360853200 | ANO10 | c.779T= (p.Leu260=) c.593-2211T= (n.593-2211T=) c.581T= (p.Leu194=) c.473-11348T= (n.473-11348T=) c.446T= (p.Leu149=) n.895T= | |
| 3 | g.43577075A>C | CA352343972 | ANO10 | c.779T>G (p.Leu260Arg) c.593-2211T>G (n.593-2211T>G) c.581T>G (p.Leu194Arg) c.473-11348T>G (n.473-11348T>G) c.446T>G (p.Leu149Arg) n.895T>G | |
| 3 | g.43577075A>G | CA352343974 | ANO10 | c.779T>C (p.Leu260Pro) c.593-2211T>C (n.593-2211T>C) c.581T>C (p.Leu194Pro) c.473-11348T>C (n.473-11348T>C) c.446T>C (p.Leu149Pro) n.895T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.43577075A>T | CA352343973 | ANO10 | c.779T>A (p.Leu260Gln) c.593-2211T>A (n.593-2211T>A) c.581T>A (p.Leu194Gln) c.473-11348T>A (n.473-11348T>A) c.446T>A (p.Leu149Gln) n.895T>A | |
| 3 | g.43577076G>A | CA433573819 | ANO10 | c.778C>T (p.Leu260=) c.593-2212C>T (n.593-2212C>T) c.580C>T (p.Leu194=) c.473-11349C>T (n.473-11349C>T) c.445C>T (p.Leu149=) n.894C>T | |
| 3 | g.43577076G>C | CA74378020 | ANO10 | c.778C>G (p.Leu260Val) c.593-2212C>G (n.593-2212C>G) c.580C>G (p.Leu194Val) c.473-11349C>G (n.473-11349C>G) c.445C>G (p.Leu149Val) n.894C>G | dbSNP |
| 3 | g.43577076G= | CA1360853201 | ANO10 | c.778C= (p.Leu260=) c.593-2212C= (n.593-2212C=) c.580C= (p.Leu194=) c.473-11349C= (n.473-11349C=) c.445C= (p.Leu149=) n.894C= | |
| 3 | g.43577076G>T | CA352343975 | ANO10 | c.778C>A (p.Leu260Met) c.593-2212C>A (n.593-2212C>A) c.580C>A (p.Leu194Met) c.473-11349C>A (n.473-11349C>A) c.445C>A (p.Leu149Met) n.894C>A | |
| 3 | g.43577077T>A | CA352343976 | ANO10 | c.777A>T (p.Glu259Asp) c.593-2213A>T (n.593-2213A>T) c.579A>T (p.Glu193Asp) c.473-11350A>T (n.473-11350A>T) c.444A>T (p.Glu148Asp) n.893A>T | |
| 3 | g.43577077T>C | CA433573824 | ANO10 | c.777A>G (p.Glu259=) c.593-2213A>G (n.593-2213A>G) c.579A>G (p.Glu193=) c.473-11350A>G (n.473-11350A>G) c.444A>G (p.Glu148=) n.893A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.43577077T>G | CA352343977 | ANO10 | c.777A>C (p.Glu259Asp) c.593-2213A>C (n.593-2213A>C) c.579A>C (p.Glu193Asp) c.473-11350A>C (n.473-11350A>C) c.444A>C (p.Glu148Asp) n.893A>C | |
| 3 | g.43577077T= | CA1360853202 | ANO10 | c.777A= (p.Glu259=) c.593-2213A= (n.593-2213A=) c.579A= (p.Glu193=) c.473-11350A= (n.473-11350A=) c.444A= (p.Glu148=) n.893A= | |
| 3 | g.43577078T>A | CA352343978 | ANO10 | c.776A>T (p.Glu259Val) c.593-2214A>T (n.593-2214A>T) c.578A>T (p.Glu193Val) c.473-11351A>T (n.473-11351A>T) c.443A>T (p.Glu148Val) n.892A>T | |
| 3 | g.43577078T>C | CA352343979 | ANO10 | c.776A>G (p.Glu259Gly) c.593-2214A>G (n.593-2214A>G) c.578A>G (p.Glu193Gly) c.473-11351A>G (n.473-11351A>G) c.443A>G (p.Glu148Gly) n.892A>G | dbSNP gnomAD v4 |
| 3 | g.43577078T>G | CA352343980 | ANO10 | c.776A>C (p.Glu259Ala) c.593-2214A>C (n.593-2214A>C) c.578A>C (p.Glu193Ala) c.473-11351A>C (n.473-11351A>C) c.443A>C (p.Glu148Ala) n.892A>C | |
| 3 | g.43577078T= | CA1360853203 | ANO10 | c.776A= (p.Glu259=) c.593-2214A= (n.593-2214A=) c.578A= (p.Glu193=) c.473-11351A= (n.473-11351A=) c.443A= (p.Glu148=) n.892A= |