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 |
|---|---|---|---|---|---|
| 3 | g.4787959G>A | CA351640447 | ITPR1 | c.6639G>A (n.6639G>A) c.6604G>A (p.Asp2202Asn) c.6583G>A (p.Asp2195Asn) c.6484G>A (p.Asp2162Asn) c.6439G>A (p.Asp2147Asn) n.520G>A c.997-18144G>A (n.997-18144G>A) c.2527G>A n.4132G>A c.2963G>A c.4390G>A (p.Asp1464Asn) c.3536G>A c.6601G>A (p.Asp2201Asn) c.6556G>A (p.Asp2186Asn) c.447-58180G>A c.3930G>A n.462G>A c.6628G>A (p.Asp2210Asn) n.1676G>A n.190G>A n.4113G>A c.6586G>A (p.Asp2196Asn) c.6559G>A (p.Asp2187Asn) c.6511G>A (p.Asp2171Asn) c.6562G>A (p.Asp2188Asn) c.6631G>A (p.Asp2211Asn) c.6598G>A (p.Asp2200Asn) c.6595G>A (p.Asp2199Asn) c.6520G>A (p.Asp2174Asn) | |
| 3 | g.4787959G>C | CA2232645 | ITPR1 | c.6639G>C (n.6639G>C) c.6604G>C (p.Asp2202His) c.6583G>C (p.Asp2195His) c.6484G>C (p.Asp2162His) c.6439G>C (p.Asp2147His) n.520G>C c.997-18144G>C (n.997-18144G>C) c.2527G>C n.4132G>C c.2963G>C c.4390G>C (p.Asp1464His) c.3536G>C c.6601G>C (p.Asp2201His) c.6556G>C (p.Asp2186His) c.447-58180G>C c.3930G>C n.462G>C c.6628G>C (p.Asp2210His) n.1676G>C n.190G>C n.4113G>C c.6586G>C (p.Asp2196His) c.6559G>C (p.Asp2187His) c.6511G>C (p.Asp2171His) c.6562G>C (p.Asp2188His) c.6631G>C (p.Asp2211His) c.6598G>C (p.Asp2200His) c.6595G>C (p.Asp2199His) c.6520G>C (p.Asp2174His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4787959G= | CA1342337411 | ITPR1 | c.6639G= (n.6639G=) c.6604G= (p.Asp2202=) c.6583G= (p.Asp2195=) c.6484G= (p.Asp2162=) c.6439G= (p.Asp2147=) n.520G= c.997-18144G= (n.997-18144G=) c.2527G= n.4132G= c.2963G= c.4390G= (p.Asp1464=) c.3536G= c.6601G= (p.Asp2201=) c.6556G= (p.Asp2186=) c.447-58180G= c.3930G= n.462G= c.6628G= (p.Asp2210=) n.1676G= n.190G= n.4113G= c.6586G= (p.Asp2196=) c.6559G= (p.Asp2187=) c.6511G= (p.Asp2171=) c.6562G= (p.Asp2188=) c.6631G= (p.Asp2211=) c.6598G= (p.Asp2200=) c.6595G= (p.Asp2199=) c.6520G= (p.Asp2174=) | |
| 3 | g.4787959G>T | CA351640448 | ITPR1 | c.6639G>T (n.6639G>T) c.6604G>T (p.Asp2202Tyr) c.6583G>T (p.Asp2195Tyr) c.6484G>T (p.Asp2162Tyr) c.6439G>T (p.Asp2147Tyr) n.520G>T c.997-18144G>T (n.997-18144G>T) c.2527G>T n.4132G>T c.2963G>T c.4390G>T (p.Asp1464Tyr) c.3536G>T c.6601G>T (p.Asp2201Tyr) c.6556G>T (p.Asp2186Tyr) c.447-58180G>T c.3930G>T n.462G>T c.6628G>T (p.Asp2210Tyr) n.1676G>T n.190G>T n.4113G>T c.6586G>T (p.Asp2196Tyr) c.6559G>T (p.Asp2187Tyr) c.6511G>T (p.Asp2171Tyr) c.6562G>T (p.Asp2188Tyr) c.6631G>T (p.Asp2211Tyr) c.6598G>T (p.Asp2200Tyr) c.6595G>T (p.Asp2199Tyr) c.6520G>T (p.Asp2174Tyr) | |
| 3 | g.4787960A>C | CA351640449 | ITPR1 | c.6640A>C (n.6640A>C) c.6605A>C (p.Asp2202Ala) c.6584A>C (p.Asp2195Ala) c.6485A>C (p.Asp2162Ala) c.6440A>C (p.Asp2147Ala) n.521A>C c.997-18143A>C (n.997-18143A>C) c.2528A>C n.4133A>C c.2964A>C c.4391A>C (p.Asp1464Ala) c.3537A>C c.6602A>C (p.Asp2201Ala) c.6557A>C (p.Asp2186Ala) c.447-58179A>C c.3931A>C n.463A>C c.6629A>C (p.Asp2210Ala) n.1677A>C n.191A>C n.4114A>C c.6587A>C (p.Asp2196Ala) c.6560A>C (p.Asp2187Ala) c.6512A>C (p.Asp2171Ala) c.6563A>C (p.Asp2188Ala) c.6632A>C (p.Asp2211Ala) c.6599A>C (p.Asp2200Ala) c.6596A>C (p.Asp2199Ala) c.6521A>C (p.Asp2174Ala) | |
| 3 | g.4787960A>G | CA351640450 | ITPR1 | c.6640A>G (n.6640A>G) c.6605A>G (p.Asp2202Gly) c.6584A>G (p.Asp2195Gly) c.6485A>G (p.Asp2162Gly) c.6440A>G (p.Asp2147Gly) n.521A>G c.997-18143A>G (n.997-18143A>G) c.2528A>G n.4133A>G c.2964A>G c.4391A>G (p.Asp1464Gly) c.3537A>G c.6602A>G (p.Asp2201Gly) c.6557A>G (p.Asp2186Gly) c.447-58179A>G c.3931A>G n.463A>G c.6629A>G (p.Asp2210Gly) n.1677A>G n.191A>G n.4114A>G c.6587A>G (p.Asp2196Gly) c.6560A>G (p.Asp2187Gly) c.6512A>G (p.Asp2171Gly) c.6563A>G (p.Asp2188Gly) c.6632A>G (p.Asp2211Gly) c.6599A>G (p.Asp2200Gly) c.6596A>G (p.Asp2199Gly) c.6521A>G (p.Asp2174Gly) | |
| 3 | g.4787960A>T | CA351640451 | ITPR1 | c.6640A>T (n.6640A>T) c.6605A>T (p.Asp2202Val) c.6584A>T (p.Asp2195Val) c.6485A>T (p.Asp2162Val) c.6440A>T (p.Asp2147Val) n.521A>T c.997-18143A>T (n.997-18143A>T) c.2528A>T n.4133A>T c.2964A>T c.4391A>T (p.Asp1464Val) c.3537A>T c.6602A>T (p.Asp2201Val) c.6557A>T (p.Asp2186Val) c.447-58179A>T c.3931A>T n.463A>T c.6629A>T (p.Asp2210Val) n.1677A>T n.191A>T n.4114A>T c.6587A>T (p.Asp2196Val) c.6560A>T (p.Asp2187Val) c.6512A>T (p.Asp2171Val) c.6563A>T (p.Asp2188Val) c.6632A>T (p.Asp2211Val) c.6599A>T (p.Asp2200Val) c.6596A>T (p.Asp2199Val) c.6521A>T (p.Asp2174Val) | |
| 3 | g.4787961C>A | CA351640452 | ITPR1 | c.6641C>A (n.6641C>A) c.6606C>A (p.Asp2202Glu) c.6585C>A (p.Asp2195Glu) c.6486C>A (p.Asp2162Glu) c.6441C>A (p.Asp2147Glu) n.522C>A c.997-18142C>A (n.997-18142C>A) c.2529C>A n.4134C>A c.2965C>A c.4392C>A (p.Asp1464Glu) c.3538C>A c.6603C>A (p.Asp2201Glu) c.6558C>A (p.Asp2186Glu) c.447-58178C>A c.3932C>A n.464C>A c.6630C>A (p.Asp2210Glu) n.1678C>A n.192C>A n.4115C>A c.6588C>A (p.Asp2196Glu) c.6561C>A (p.Asp2187Glu) c.6513C>A (p.Asp2171Glu) c.6564C>A (p.Asp2188Glu) c.6633C>A (p.Asp2211Glu) c.6600C>A (p.Asp2200Glu) c.6597C>A (p.Asp2199Glu) c.6522C>A (p.Asp2174Glu) | |
| 3 | g.4787961C>G | CA351640453 | ITPR1 | c.6641C>G (n.6641C>G) c.6606C>G (p.Asp2202Glu) c.6585C>G (p.Asp2195Glu) c.6486C>G (p.Asp2162Glu) c.6441C>G (p.Asp2147Glu) n.522C>G c.997-18142C>G (n.997-18142C>G) c.2529C>G n.4134C>G c.2965C>G c.4392C>G (p.Asp1464Glu) c.3538C>G c.6603C>G (p.Asp2201Glu) c.6558C>G (p.Asp2186Glu) c.447-58178C>G c.3932C>G n.464C>G c.6630C>G (p.Asp2210Glu) n.1678C>G n.192C>G n.4115C>G c.6588C>G (p.Asp2196Glu) c.6561C>G (p.Asp2187Glu) c.6513C>G (p.Asp2171Glu) c.6564C>G (p.Asp2188Glu) c.6633C>G (p.Asp2211Glu) c.6600C>G (p.Asp2200Glu) c.6597C>G (p.Asp2199Glu) c.6522C>G (p.Asp2174Glu) | |
| 3 | g.4787961C>T | CA432322374 | ITPR1 | c.6641C>T (n.6641C>T) c.6606C>T (p.Asp2202=) c.6585C>T (p.Asp2195=) c.6486C>T (p.Asp2162=) c.6441C>T (p.Asp2147=) n.522C>T c.997-18142C>T (n.997-18142C>T) c.2529C>T n.4134C>T c.2965C>T c.4392C>T (p.Asp1464=) c.3538C>T c.6603C>T (p.Asp2201=) c.6558C>T (p.Asp2186=) c.447-58178C>T c.3932C>T n.464C>T c.6630C>T (p.Asp2210=) n.1678C>T n.192C>T n.4115C>T c.6588C>T (p.Asp2196=) c.6561C>T (p.Asp2187=) c.6513C>T (p.Asp2171=) c.6564C>T (p.Asp2188=) c.6633C>T (p.Asp2211=) c.6600C>T (p.Asp2200=) c.6597C>T (p.Asp2199=) c.6522C>T (p.Asp2174=) | |
| 3 | g.4787962C>A | CA432322375 | ITPR1 | c.6642C>A (n.6642C>A) c.6607C>A (p.Arg2203=) c.6586C>A (p.Arg2196=) c.6487C>A (p.Arg2163=) c.6442C>A (p.Arg2148=) n.523C>A c.997-18141C>A (n.997-18141C>A) c.2530C>A n.4135C>A c.2966C>A c.4393C>A (p.Arg1465=) c.3539C>A c.6604C>A (p.Arg2202=) c.6559C>A (p.Arg2187=) c.447-58177C>A c.3933C>A n.465C>A c.6631C>A (p.Arg2211=) n.1679C>A n.193C>A n.4116C>A c.6589C>A (p.Arg2197=) c.6562C>A (p.Arg2188=) c.6514C>A (p.Arg2172=) c.6565C>A (p.Arg2189=) c.6634C>A (p.Arg2212=) c.6601C>A (p.Arg2201=) c.6598C>A (p.Arg2200=) c.6523C>A (p.Arg2175=) | gnomAD v4 |
| 3 | g.4787962C= | CA1342337412 | ITPR1 | c.6642C= (n.6642C=) c.6607C= (p.Arg2203=) c.6586C= (p.Arg2196=) c.6487C= (p.Arg2163=) c.6442C= (p.Arg2148=) n.523C= c.997-18141C= (n.997-18141C=) c.2530C= n.4135C= c.2966C= c.4393C= (p.Arg1465=) c.3539C= c.6604C= (p.Arg2202=) c.6559C= (p.Arg2187=) c.447-58177C= c.3933C= n.465C= c.6631C= (p.Arg2211=) n.1679C= n.193C= n.4116C= c.6589C= (p.Arg2197=) c.6562C= (p.Arg2188=) c.6514C= (p.Arg2172=) c.6565C= (p.Arg2189=) c.6634C= (p.Arg2212=) c.6601C= (p.Arg2201=) c.6598C= (p.Arg2200=) c.6523C= (p.Arg2175=) | |
| 3 | g.4787962C>G | CA351640454 | ITPR1 | c.6642C>G (n.6642C>G) c.6607C>G (p.Arg2203Gly) c.6586C>G (p.Arg2196Gly) c.6487C>G (p.Arg2163Gly) c.6442C>G (p.Arg2148Gly) n.523C>G c.997-18141C>G (n.997-18141C>G) c.2530C>G n.4135C>G c.2966C>G c.4393C>G (p.Arg1465Gly) c.3539C>G c.6604C>G (p.Arg2202Gly) c.6559C>G (p.Arg2187Gly) c.447-58177C>G c.3933C>G n.465C>G c.6631C>G (p.Arg2211Gly) n.1679C>G n.193C>G n.4116C>G c.6589C>G (p.Arg2197Gly) c.6562C>G (p.Arg2188Gly) c.6514C>G (p.Arg2172Gly) c.6565C>G (p.Arg2189Gly) c.6634C>G (p.Arg2212Gly) c.6601C>G (p.Arg2201Gly) c.6598C>G (p.Arg2200Gly) c.6523C>G (p.Arg2175Gly) | |
| 3 | g.4787962C>T | CA351640455 | ITPR1 | c.6642C>T (n.6642C>T) c.6607C>T (p.Arg2203Ter) c.6586C>T (p.Arg2196Ter) c.6487C>T (p.Arg2163Ter) c.6442C>T (p.Arg2148Ter) n.523C>T c.997-18141C>T (n.997-18141C>T) c.2530C>T n.4135C>T c.2966C>T c.4393C>T (p.Arg1465Ter) c.3539C>T c.6604C>T (p.Arg2202Ter) c.6559C>T (p.Arg2187Ter) c.447-58177C>T c.3933C>T n.465C>T c.6631C>T (p.Arg2211Ter) n.1679C>T n.193C>T n.4116C>T c.6589C>T (p.Arg2197Ter) c.6562C>T (p.Arg2188Ter) c.6514C>T (p.Arg2172Ter) c.6565C>T (p.Arg2189Ter) c.6634C>T (p.Arg2212Ter) c.6601C>T (p.Arg2201Ter) c.6598C>T (p.Arg2200Ter) c.6523C>T (p.Arg2175Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4787963G>A | CA2232646 | ITPR1 | c.6643G>A (n.6643G>A) c.6608G>A (p.Arg2203Gln) c.6587G>A (p.Arg2196Gln) c.6488G>A (p.Arg2163Gln) c.6443G>A (p.Arg2148Gln) n.524G>A c.997-18140G>A (n.997-18140G>A) c.2531G>A n.4136G>A c.2967G>A c.4394G>A (p.Arg1465Gln) c.3540G>A c.6605G>A (p.Arg2202Gln) c.6560G>A (p.Arg2187Gln) c.447-58176G>A c.3934G>A n.466G>A c.6632G>A (p.Arg2211Gln) n.1680G>A n.194G>A n.4117G>A c.6590G>A (p.Arg2197Gln) c.6563G>A (p.Arg2188Gln) c.6515G>A (p.Arg2172Gln) c.6566G>A (p.Arg2189Gln) c.6635G>A (p.Arg2212Gln) c.6602G>A (p.Arg2201Gln) c.6599G>A (p.Arg2200Gln) c.6524G>A (p.Arg2175Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.4787963G>C | CA351640456 | ITPR1 | c.6643G>C (n.6643G>C) c.6608G>C (p.Arg2203Pro) c.6587G>C (p.Arg2196Pro) c.6488G>C (p.Arg2163Pro) c.6443G>C (p.Arg2148Pro) n.524G>C c.997-18140G>C (n.997-18140G>C) c.2531G>C n.4136G>C c.2967G>C c.4394G>C (p.Arg1465Pro) c.3540G>C c.6605G>C (p.Arg2202Pro) c.6560G>C (p.Arg2187Pro) c.447-58176G>C c.3934G>C n.466G>C c.6632G>C (p.Arg2211Pro) n.1680G>C n.194G>C n.4117G>C c.6590G>C (p.Arg2197Pro) c.6563G>C (p.Arg2188Pro) c.6515G>C (p.Arg2172Pro) c.6566G>C (p.Arg2189Pro) c.6635G>C (p.Arg2212Pro) c.6602G>C (p.Arg2201Pro) c.6599G>C (p.Arg2200Pro) c.6524G>C (p.Arg2175Pro) | |
| 3 | g.4787963G= | CA1342337413 | ITPR1 | c.6643G= (n.6643G=) c.6608G= (p.Arg2203=) c.6587G= (p.Arg2196=) c.6488G= (p.Arg2163=) c.6443G= (p.Arg2148=) n.524G= c.997-18140G= (n.997-18140G=) c.2531G= n.4136G= c.2967G= c.4394G= (p.Arg1465=) c.3540G= c.6605G= (p.Arg2202=) c.6560G= (p.Arg2187=) c.447-58176G= c.3934G= n.466G= c.6632G= (p.Arg2211=) n.1680G= n.194G= n.4117G= c.6590G= (p.Arg2197=) c.6563G= (p.Arg2188=) c.6515G= (p.Arg2172=) c.6566G= (p.Arg2189=) c.6635G= (p.Arg2212=) c.6602G= (p.Arg2201=) c.6599G= (p.Arg2200=) c.6524G= (p.Arg2175=) | |
| 3 | g.4787963G>T | CA351640457 | ITPR1 | c.6643G>T (n.6643G>T) c.6608G>T (p.Arg2203Leu) c.6587G>T (p.Arg2196Leu) c.6488G>T (p.Arg2163Leu) c.6443G>T (p.Arg2148Leu) n.524G>T c.997-18140G>T (n.997-18140G>T) c.2531G>T n.4136G>T c.2967G>T c.4394G>T (p.Arg1465Leu) c.3540G>T c.6605G>T (p.Arg2202Leu) c.6560G>T (p.Arg2187Leu) c.447-58176G>T c.3934G>T n.466G>T c.6632G>T (p.Arg2211Leu) n.1680G>T n.194G>T n.4117G>T c.6590G>T (p.Arg2197Leu) c.6563G>T (p.Arg2188Leu) c.6515G>T (p.Arg2172Leu) c.6566G>T (p.Arg2189Leu) c.6635G>T (p.Arg2212Leu) c.6602G>T (p.Arg2201Leu) c.6599G>T (p.Arg2200Leu) c.6524G>T (p.Arg2175Leu) | gnomAD v4 |
| 3 | g.4787964A= | CA1342337414 | ITPR1 | c.6644A= (n.6644A=) c.6609A= (p.Arg2203=) c.6588A= (p.Arg2196=) c.6489A= (p.Arg2163=) c.6444A= (p.Arg2148=) n.525A= c.997-18139A= (n.997-18139A=) c.2532A= n.4137A= c.2968A= c.4395A= (p.Arg1465=) c.3541A= c.6606A= (p.Arg2202=) c.6561A= (p.Arg2187=) c.447-58175A= c.3935A= n.467A= c.6633A= (p.Arg2211=) n.1681A= n.195A= n.4118A= c.6591A= (p.Arg2197=) c.6564A= (p.Arg2188=) c.6516A= (p.Arg2172=) c.6567A= (p.Arg2189=) c.6636A= (p.Arg2212=) c.6603A= (p.Arg2201=) c.6600A= (p.Arg2200=) c.6525A= (p.Arg2175=) | |
| 3 | g.4787964A>C | CA432322392 | ITPR1 | c.6644A>C (n.6644A>C) c.6609A>C (p.Arg2203=) c.6588A>C (p.Arg2196=) c.6489A>C (p.Arg2163=) c.6444A>C (p.Arg2148=) n.525A>C c.997-18139A>C (n.997-18139A>C) c.2532A>C n.4137A>C c.2968A>C c.4395A>C (p.Arg1465=) c.3541A>C c.6606A>C (p.Arg2202=) c.6561A>C (p.Arg2187=) c.447-58175A>C c.3935A>C n.467A>C c.6633A>C (p.Arg2211=) n.1681A>C n.195A>C n.4118A>C c.6591A>C (p.Arg2197=) c.6564A>C (p.Arg2188=) c.6516A>C (p.Arg2172=) c.6567A>C (p.Arg2189=) c.6636A>C (p.Arg2212=) c.6603A>C (p.Arg2201=) c.6600A>C (p.Arg2200=) c.6525A>C (p.Arg2175=) | |
| 3 | g.4787964A>G | CA432322394 | ITPR1 | c.6644A>G (n.6644A>G) c.6609A>G (p.Arg2203=) c.6588A>G (p.Arg2196=) c.6489A>G (p.Arg2163=) c.6444A>G (p.Arg2148=) n.525A>G c.997-18139A>G (n.997-18139A>G) c.2532A>G n.4137A>G c.2968A>G c.4395A>G (p.Arg1465=) c.3541A>G c.6606A>G (p.Arg2202=) c.6561A>G (p.Arg2187=) c.447-58175A>G c.3935A>G n.467A>G c.6633A>G (p.Arg2211=) n.1681A>G n.195A>G n.4118A>G c.6591A>G (p.Arg2197=) c.6564A>G (p.Arg2188=) c.6516A>G (p.Arg2172=) c.6567A>G (p.Arg2189=) c.6636A>G (p.Arg2212=) c.6603A>G (p.Arg2201=) c.6600A>G (p.Arg2200=) c.6525A>G (p.Arg2175=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4787964A>T | CA432322396 | ITPR1 | c.6644A>T (n.6644A>T) c.6609A>T (p.Arg2203=) c.6588A>T (p.Arg2196=) c.6489A>T (p.Arg2163=) c.6444A>T (p.Arg2148=) n.525A>T c.997-18139A>T (n.997-18139A>T) c.2532A>T n.4137A>T c.2968A>T c.4395A>T (p.Arg1465=) c.3541A>T c.6606A>T (p.Arg2202=) c.6561A>T (p.Arg2187=) c.447-58175A>T c.3935A>T n.467A>T c.6633A>T (p.Arg2211=) n.1681A>T n.195A>T n.4118A>T c.6591A>T (p.Arg2197=) c.6564A>T (p.Arg2188=) c.6516A>T (p.Arg2172=) c.6567A>T (p.Arg2189=) c.6636A>T (p.Arg2212=) c.6603A>T (p.Arg2201=) c.6600A>T (p.Arg2200=) c.6525A>T (p.Arg2175=) | |
| 3 | g.4787965A>C | CA351640459 | ITPR1 | c.6645A>C (n.6645A>C) c.6610A>C (p.Thr2204Pro) c.6589A>C (p.Thr2197Pro) c.6490A>C (p.Thr2164Pro) c.6445A>C (p.Thr2149Pro) n.526A>C c.997-18138A>C (n.997-18138A>C) c.2533A>C n.4138A>C c.2969A>C c.4396A>C (p.Thr1466Pro) c.3542A>C c.6607A>C (p.Thr2203Pro) c.6562A>C (p.Thr2188Pro) c.447-58174A>C c.3936A>C n.468A>C c.6634A>C (p.Thr2212Pro) n.1682A>C n.196A>C n.4119A>C c.6592A>C (p.Thr2198Pro) c.6565A>C (p.Thr2189Pro) c.6517A>C (p.Thr2173Pro) c.6568A>C (p.Thr2190Pro) c.6637A>C (p.Thr2213Pro) c.6604A>C (p.Thr2202Pro) c.6601A>C (p.Thr2201Pro) c.6526A>C (p.Thr2176Pro) | |
| 3 | g.4787965A>G | CA351640460 | ITPR1 | c.6645A>G (n.6645A>G) c.6610A>G (p.Thr2204Ala) c.6589A>G (p.Thr2197Ala) c.6490A>G (p.Thr2164Ala) c.6445A>G (p.Thr2149Ala) n.526A>G c.997-18138A>G (n.997-18138A>G) c.2533A>G n.4138A>G c.2969A>G c.4396A>G (p.Thr1466Ala) c.3542A>G c.6607A>G (p.Thr2203Ala) c.6562A>G (p.Thr2188Ala) c.447-58174A>G c.3936A>G n.468A>G c.6634A>G (p.Thr2212Ala) n.1682A>G n.196A>G n.4119A>G c.6592A>G (p.Thr2198Ala) c.6565A>G (p.Thr2189Ala) c.6517A>G (p.Thr2173Ala) c.6568A>G (p.Thr2190Ala) c.6637A>G (p.Thr2213Ala) c.6604A>G (p.Thr2202Ala) c.6601A>G (p.Thr2201Ala) c.6526A>G (p.Thr2176Ala) | |
| 3 | g.4787965A>T | CA351640458 | ITPR1 | c.6645A>T (n.6645A>T) c.6610A>T (p.Thr2204Ser) c.6589A>T (p.Thr2197Ser) c.6490A>T (p.Thr2164Ser) c.6445A>T (p.Thr2149Ser) n.526A>T c.997-18138A>T (n.997-18138A>T) c.2533A>T n.4138A>T c.2969A>T c.4396A>T (p.Thr1466Ser) c.3542A>T c.6607A>T (p.Thr2203Ser) c.6562A>T (p.Thr2188Ser) c.447-58174A>T c.3936A>T n.468A>T c.6634A>T (p.Thr2212Ser) n.1682A>T n.196A>T n.4119A>T c.6592A>T (p.Thr2198Ser) c.6565A>T (p.Thr2189Ser) c.6517A>T (p.Thr2173Ser) c.6568A>T (p.Thr2190Ser) c.6637A>T (p.Thr2213Ser) c.6604A>T (p.Thr2202Ser) c.6601A>T (p.Thr2201Ser) c.6526A>T (p.Thr2176Ser) | |
| 3 | g.4787966C>A | CA351640461 | ITPR1 | c.6646C>A (n.6646C>A) c.6611C>A (p.Thr2204Lys) c.6590C>A (p.Thr2197Lys) c.6491C>A (p.Thr2164Lys) c.6446C>A (p.Thr2149Lys) n.527C>A c.997-18137C>A (n.997-18137C>A) c.2534C>A n.4139C>A c.2970C>A c.4397C>A (p.Thr1466Lys) c.3543C>A c.6608C>A (p.Thr2203Lys) c.6563C>A (p.Thr2188Lys) c.447-58173C>A c.3937C>A n.469C>A c.6635C>A (p.Thr2212Lys) n.1683C>A n.197C>A n.4120C>A c.6593C>A (p.Thr2198Lys) c.6566C>A (p.Thr2189Lys) c.6518C>A (p.Thr2173Lys) c.6569C>A (p.Thr2190Lys) c.6638C>A (p.Thr2213Lys) c.6605C>A (p.Thr2202Lys) c.6602C>A (p.Thr2201Lys) c.6527C>A (p.Thr2176Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4787966C= | CA1342337415 | ITPR1 | c.6646C= (n.6646C=) c.6611C= (p.Thr2204=) c.6590C= (p.Thr2197=) c.6491C= (p.Thr2164=) c.6446C= (p.Thr2149=) n.527C= c.997-18137C= (n.997-18137C=) c.2534C= n.4139C= c.2970C= c.4397C= (p.Thr1466=) c.3543C= c.6608C= (p.Thr2203=) c.6563C= (p.Thr2188=) c.447-58173C= c.3937C= n.469C= c.6635C= (p.Thr2212=) n.1683C= n.197C= n.4120C= c.6593C= (p.Thr2198=) c.6566C= (p.Thr2189=) c.6518C= (p.Thr2173=) c.6569C= (p.Thr2190=) c.6638C= (p.Thr2213=) c.6605C= (p.Thr2202=) c.6602C= (p.Thr2201=) c.6527C= (p.Thr2176=) | |
| 3 | g.4787966C>G | CA351640462 | ITPR1 | c.6646C>G (n.6646C>G) c.6611C>G (p.Thr2204Arg) c.6590C>G (p.Thr2197Arg) c.6491C>G (p.Thr2164Arg) c.6446C>G (p.Thr2149Arg) n.527C>G c.997-18137C>G (n.997-18137C>G) c.2534C>G n.4139C>G c.2970C>G c.4397C>G (p.Thr1466Arg) c.3543C>G c.6608C>G (p.Thr2203Arg) c.6563C>G (p.Thr2188Arg) c.447-58173C>G c.3937C>G n.469C>G c.6635C>G (p.Thr2212Arg) n.1683C>G n.197C>G n.4120C>G c.6593C>G (p.Thr2198Arg) c.6566C>G (p.Thr2189Arg) c.6518C>G (p.Thr2173Arg) c.6569C>G (p.Thr2190Arg) c.6638C>G (p.Thr2213Arg) c.6605C>G (p.Thr2202Arg) c.6602C>G (p.Thr2201Arg) c.6527C>G (p.Thr2176Arg) | |
| 3 | g.4787966C>T | CA351640463 | ITPR1 | c.6646C>T (n.6646C>T) c.6611C>T (p.Thr2204Ile) c.6590C>T (p.Thr2197Ile) c.6491C>T (p.Thr2164Ile) c.6446C>T (p.Thr2149Ile) n.527C>T c.997-18137C>T (n.997-18137C>T) c.2534C>T n.4139C>T c.2970C>T c.4397C>T (p.Thr1466Ile) c.3543C>T c.6608C>T (p.Thr2203Ile) c.6563C>T (p.Thr2188Ile) c.447-58173C>T c.3937C>T n.469C>T c.6635C>T (p.Thr2212Ile) n.1683C>T n.197C>T n.4120C>T c.6593C>T (p.Thr2198Ile) c.6566C>T (p.Thr2189Ile) c.6518C>T (p.Thr2173Ile) c.6569C>T (p.Thr2190Ile) c.6638C>T (p.Thr2213Ile) c.6605C>T (p.Thr2202Ile) c.6602C>T (p.Thr2201Ile) c.6527C>T (p.Thr2176Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4787967A>C | CA432322419 | ITPR1 | c.6647A>C (n.6647A>C) c.6612A>C (p.Thr2204=) c.6591A>C (p.Thr2197=) c.6492A>C (p.Thr2164=) c.6447A>C (p.Thr2149=) n.528A>C c.997-18136A>C (n.997-18136A>C) c.2535A>C n.4140A>C c.2971A>C c.4398A>C (p.Thr1466=) c.3544A>C c.6609A>C (p.Thr2203=) c.6564A>C (p.Thr2188=) c.447-58172A>C c.3938A>C n.470A>C c.6636A>C (p.Thr2212=) n.1684A>C n.198A>C n.4121A>C c.6594A>C (p.Thr2198=) c.6567A>C (p.Thr2189=) c.6519A>C (p.Thr2173=) c.6570A>C (p.Thr2190=) c.6639A>C (p.Thr2213=) c.6606A>C (p.Thr2202=) c.6603A>C (p.Thr2201=) c.6528A>C (p.Thr2176=) | |
| 3 | g.4787967A>G | CA432322413 | ITPR1 | c.6647A>G (n.6647A>G) c.6612A>G (p.Thr2204=) c.6591A>G (p.Thr2197=) c.6492A>G (p.Thr2164=) c.6447A>G (p.Thr2149=) n.528A>G c.997-18136A>G (n.997-18136A>G) c.2535A>G n.4140A>G c.2971A>G c.4398A>G (p.Thr1466=) c.3544A>G c.6609A>G (p.Thr2203=) c.6564A>G (p.Thr2188=) c.447-58172A>G c.3938A>G n.470A>G c.6636A>G (p.Thr2212=) n.1684A>G n.198A>G n.4121A>G c.6594A>G (p.Thr2198=) c.6567A>G (p.Thr2189=) c.6519A>G (p.Thr2173=) c.6570A>G (p.Thr2190=) c.6639A>G (p.Thr2213=) c.6606A>G (p.Thr2202=) c.6603A>G (p.Thr2201=) c.6528A>G (p.Thr2176=) | gnomAD v4 |
| 3 | g.4787967A>T | CA432322416 | ITPR1 | c.6647A>T (n.6647A>T) c.6612A>T (p.Thr2204=) c.6591A>T (p.Thr2197=) c.6492A>T (p.Thr2164=) c.6447A>T (p.Thr2149=) n.528A>T c.997-18136A>T (n.997-18136A>T) c.2535A>T n.4140A>T c.2971A>T c.4398A>T (p.Thr1466=) c.3544A>T c.6609A>T (p.Thr2203=) c.6564A>T (p.Thr2188=) c.447-58172A>T c.3938A>T n.470A>T c.6636A>T (p.Thr2212=) n.1684A>T n.198A>T n.4121A>T c.6594A>T (p.Thr2198=) c.6567A>T (p.Thr2189=) c.6519A>T (p.Thr2173=) c.6570A>T (p.Thr2190=) c.6639A>T (p.Thr2213=) c.6606A>T (p.Thr2202=) c.6603A>T (p.Thr2201=) c.6528A>T (p.Thr2176=) | |
| 3 | g.4787968A= | CA1342337416 | ITPR1 | c.6648A= (n.6648A=) c.6613A= (p.Met2205=) c.6592A= (p.Met2198=) c.6493A= (p.Met2165=) c.6448A= (p.Met2150=) n.529A= c.997-18135A= (n.997-18135A=) c.2536A= n.4141A= c.2972A= c.4399A= (p.Met1467=) c.3545A= c.6610A= (p.Met2204=) c.6565A= (p.Met2189=) c.447-58171A= c.3939A= n.471A= c.6637A= (p.Met2213=) n.1685A= n.199A= n.4122A= c.6595A= (p.Met2199=) c.6568A= (p.Met2190=) c.6520A= (p.Met2174=) c.6571A= (p.Met2191=) c.6640A= (p.Met2214=) c.6607A= (p.Met2203=) c.6604A= (p.Met2202=) c.6529A= (p.Met2177=) | |
| 3 | g.4787968A>C | CA351640464 | ITPR1 | c.6648A>C (n.6648A>C) c.6613A>C (p.Met2205Leu) c.6592A>C (p.Met2198Leu) c.6493A>C (p.Met2165Leu) c.6448A>C (p.Met2150Leu) n.529A>C c.997-18135A>C (n.997-18135A>C) c.2536A>C n.4141A>C c.2972A>C c.4399A>C (p.Met1467Leu) c.3545A>C c.6610A>C (p.Met2204Leu) c.6565A>C (p.Met2189Leu) c.447-58171A>C c.3939A>C n.471A>C c.6637A>C (p.Met2213Leu) n.1685A>C n.199A>C n.4122A>C c.6595A>C (p.Met2199Leu) c.6568A>C (p.Met2190Leu) c.6520A>C (p.Met2174Leu) c.6571A>C (p.Met2191Leu) c.6640A>C (p.Met2214Leu) c.6607A>C (p.Met2203Leu) c.6604A>C (p.Met2202Leu) c.6529A>C (p.Met2177Leu) | |
| 3 | g.4787968A>G | CA351640465 | ITPR1 | c.6648A>G (n.6648A>G) c.6613A>G (p.Met2205Val) c.6592A>G (p.Met2198Val) c.6493A>G (p.Met2165Val) c.6448A>G (p.Met2150Val) n.529A>G c.997-18135A>G (n.997-18135A>G) c.2536A>G n.4141A>G c.2972A>G c.4399A>G (p.Met1467Val) c.3545A>G c.6610A>G (p.Met2204Val) c.6565A>G (p.Met2189Val) c.447-58171A>G c.3939A>G n.471A>G c.6637A>G (p.Met2213Val) n.1685A>G n.199A>G n.4122A>G c.6595A>G (p.Met2199Val) c.6568A>G (p.Met2190Val) c.6520A>G (p.Met2174Val) c.6571A>G (p.Met2191Val) c.6640A>G (p.Met2214Val) c.6607A>G (p.Met2203Val) c.6604A>G (p.Met2202Val) c.6529A>G (p.Met2177Val) | dbSNP gnomAD v4 |
| 3 | g.4787968A>T | CA351640466 | ITPR1 | c.6648A>T (n.6648A>T) c.6613A>T (p.Met2205Leu) c.6592A>T (p.Met2198Leu) c.6493A>T (p.Met2165Leu) c.6448A>T (p.Met2150Leu) n.529A>T c.997-18135A>T (n.997-18135A>T) c.2536A>T n.4141A>T c.2972A>T c.4399A>T (p.Met1467Leu) c.3545A>T c.6610A>T (p.Met2204Leu) c.6565A>T (p.Met2189Leu) c.447-58171A>T c.3939A>T n.471A>T c.6637A>T (p.Met2213Leu) n.1685A>T n.199A>T n.4122A>T c.6595A>T (p.Met2199Leu) c.6568A>T (p.Met2190Leu) c.6520A>T (p.Met2174Leu) c.6571A>T (p.Met2191Leu) c.6640A>T (p.Met2214Leu) c.6607A>T (p.Met2203Leu) c.6604A>T (p.Met2202Leu) c.6529A>T (p.Met2177Leu) | |
| 3 | g.4787969T>A | CA351640467 | ITPR1 | c.6649T>A (n.6649T>A) c.6614T>A (p.Met2205Lys) c.6593T>A (p.Met2198Lys) c.6494T>A (p.Met2165Lys) c.6449T>A (p.Met2150Lys) n.530T>A c.997-18134T>A (n.997-18134T>A) c.2537T>A n.4142T>A c.2973T>A c.4400T>A (p.Met1467Lys) c.3546T>A c.6611T>A (p.Met2204Lys) c.6566T>A (p.Met2189Lys) c.447-58170T>A c.3940T>A n.472T>A c.6638T>A (p.Met2213Lys) n.1686T>A n.200T>A n.4123T>A c.6596T>A (p.Met2199Lys) c.6569T>A (p.Met2190Lys) c.6521T>A (p.Met2174Lys) c.6572T>A (p.Met2191Lys) c.6641T>A (p.Met2214Lys) c.6608T>A (p.Met2203Lys) c.6605T>A (p.Met2202Lys) c.6530T>A (p.Met2177Lys) | |
| 3 | g.4787969T>C | CA351640468 | ITPR1 | c.6649T>C (n.6649T>C) c.6614T>C (p.Met2205Thr) c.6593T>C (p.Met2198Thr) c.6494T>C (p.Met2165Thr) c.6449T>C (p.Met2150Thr) n.530T>C c.997-18134T>C (n.997-18134T>C) c.2537T>C n.4142T>C c.2973T>C c.4400T>C (p.Met1467Thr) c.3546T>C c.6611T>C (p.Met2204Thr) c.6566T>C (p.Met2189Thr) c.447-58170T>C c.3940T>C n.472T>C c.6638T>C (p.Met2213Thr) n.1686T>C n.200T>C n.4123T>C c.6596T>C (p.Met2199Thr) c.6569T>C (p.Met2190Thr) c.6521T>C (p.Met2174Thr) c.6572T>C (p.Met2191Thr) c.6641T>C (p.Met2214Thr) c.6608T>C (p.Met2203Thr) c.6605T>C (p.Met2202Thr) c.6530T>C (p.Met2177Thr) | |
| 3 | g.4787969T>G | CA351640469 | ITPR1 | c.6649T>G (n.6649T>G) c.6614T>G (p.Met2205Arg) c.6593T>G (p.Met2198Arg) c.6494T>G (p.Met2165Arg) c.6449T>G (p.Met2150Arg) n.530T>G c.997-18134T>G (n.997-18134T>G) c.2537T>G n.4142T>G c.2973T>G c.4400T>G (p.Met1467Arg) c.3546T>G c.6611T>G (p.Met2204Arg) c.6566T>G (p.Met2189Arg) c.447-58170T>G c.3940T>G n.472T>G c.6638T>G (p.Met2213Arg) n.1686T>G n.200T>G n.4123T>G c.6596T>G (p.Met2199Arg) c.6569T>G (p.Met2190Arg) c.6521T>G (p.Met2174Arg) c.6572T>G (p.Met2191Arg) c.6641T>G (p.Met2214Arg) c.6608T>G (p.Met2203Arg) c.6605T>G (p.Met2202Arg) c.6530T>G (p.Met2177Arg) | |
| 3 | g.4787970G>A | CA351640470 | ITPR1 | c.6650G>A (n.6650G>A) c.6615G>A (p.Met2205Ile) c.6594G>A (p.Met2198Ile) c.6495G>A (p.Met2165Ile) c.6450G>A (p.Met2150Ile) n.531G>A c.997-18133G>A (n.997-18133G>A) c.2538G>A n.4143G>A c.2974G>A c.4401G>A (p.Met1467Ile) c.3547G>A c.6612G>A (p.Met2204Ile) c.6567G>A (p.Met2189Ile) c.447-58169G>A c.3941G>A n.473G>A c.6639G>A (p.Met2213Ile) n.1687G>A n.201G>A n.4124G>A c.6597G>A (p.Met2199Ile) c.6570G>A (p.Met2190Ile) c.6522G>A (p.Met2174Ile) c.6573G>A (p.Met2191Ile) c.6642G>A (p.Met2214Ile) c.6609G>A (p.Met2203Ile) c.6606G>A (p.Met2202Ile) c.6531G>A (p.Met2177Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.4787970G>C | CA351640471 | ITPR1 | c.6650G>C (n.6650G>C) c.6615G>C (p.Met2205Ile) c.6594G>C (p.Met2198Ile) c.6495G>C (p.Met2165Ile) c.6450G>C (p.Met2150Ile) n.531G>C c.997-18133G>C (n.997-18133G>C) c.2538G>C n.4143G>C c.2974G>C c.4401G>C (p.Met1467Ile) c.3547G>C c.6612G>C (p.Met2204Ile) c.6567G>C (p.Met2189Ile) c.447-58169G>C c.3941G>C n.473G>C c.6639G>C (p.Met2213Ile) n.1687G>C n.201G>C n.4124G>C c.6597G>C (p.Met2199Ile) c.6570G>C (p.Met2190Ile) c.6522G>C (p.Met2174Ile) c.6573G>C (p.Met2191Ile) c.6642G>C (p.Met2214Ile) c.6609G>C (p.Met2203Ile) c.6606G>C (p.Met2202Ile) c.6531G>C (p.Met2177Ile) | |
| 3 | g.4787970G>T | CA351640472 | ITPR1 | c.6650G>T (n.6650G>T) c.6615G>T (p.Met2205Ile) c.6594G>T (p.Met2198Ile) c.6495G>T (p.Met2165Ile) c.6450G>T (p.Met2150Ile) n.531G>T c.997-18133G>T (n.997-18133G>T) c.2538G>T n.4143G>T c.2974G>T c.4401G>T (p.Met1467Ile) c.3547G>T c.6612G>T (p.Met2204Ile) c.6567G>T (p.Met2189Ile) c.447-58169G>T c.3941G>T n.473G>T c.6639G>T (p.Met2213Ile) n.1687G>T n.201G>T n.4124G>T c.6597G>T (p.Met2199Ile) c.6570G>T (p.Met2190Ile) c.6522G>T (p.Met2174Ile) c.6573G>T (p.Met2191Ile) c.6642G>T (p.Met2214Ile) c.6609G>T (p.Met2203Ile) c.6606G>T (p.Met2202Ile) c.6531G>T (p.Met2177Ile) | |
| 3 | g.4787971G>A | CA351640475 | ITPR1 | c.6651G>A (n.6651G>A) c.6616G>A (p.Glu2206Lys) c.6595G>A (p.Glu2199Lys) c.6496G>A (p.Glu2166Lys) c.6451G>A (p.Glu2151Lys) n.532G>A c.997-18132G>A (n.997-18132G>A) c.2539G>A n.4144G>A c.2975G>A c.4402G>A (p.Glu1468Lys) c.3548G>A c.6613G>A (p.Glu2205Lys) c.6568G>A (p.Glu2190Lys) c.447-58168G>A c.3942G>A n.474G>A c.6640G>A (p.Glu2214Lys) n.1688G>A n.202G>A n.4125G>A c.6598G>A (p.Glu2200Lys) c.6571G>A (p.Glu2191Lys) c.6523G>A (p.Glu2175Lys) c.6574G>A (p.Glu2192Lys) c.6643G>A (p.Glu2215Lys) c.6610G>A (p.Glu2204Lys) c.6607G>A (p.Glu2203Lys) c.6532G>A (p.Glu2178Lys) | |
| 3 | g.4787971G>C | CA351640473 | ITPR1 | c.6651G>C (n.6651G>C) c.6616G>C (p.Glu2206Gln) c.6595G>C (p.Glu2199Gln) c.6496G>C (p.Glu2166Gln) c.6451G>C (p.Glu2151Gln) n.532G>C c.997-18132G>C (n.997-18132G>C) c.2539G>C n.4144G>C c.2975G>C c.4402G>C (p.Glu1468Gln) c.3548G>C c.6613G>C (p.Glu2205Gln) c.6568G>C (p.Glu2190Gln) c.447-58168G>C c.3942G>C n.474G>C c.6640G>C (p.Glu2214Gln) n.1688G>C n.202G>C n.4125G>C c.6598G>C (p.Glu2200Gln) c.6571G>C (p.Glu2191Gln) c.6523G>C (p.Glu2175Gln) c.6574G>C (p.Glu2192Gln) c.6643G>C (p.Glu2215Gln) c.6610G>C (p.Glu2204Gln) c.6607G>C (p.Glu2203Gln) c.6532G>C (p.Glu2178Gln) | |
| 3 | g.4787971G>T | CA351640474 | ITPR1 | c.6651G>T (n.6651G>T) c.6616G>T (p.Glu2206Ter) c.6595G>T (p.Glu2199Ter) c.6496G>T (p.Glu2166Ter) c.6451G>T (p.Glu2151Ter) n.532G>T c.997-18132G>T (n.997-18132G>T) c.2539G>T n.4144G>T c.2975G>T c.4402G>T (p.Glu1468Ter) c.3548G>T c.6613G>T (p.Glu2205Ter) c.6568G>T (p.Glu2190Ter) c.447-58168G>T c.3942G>T n.474G>T c.6640G>T (p.Glu2214Ter) n.1688G>T n.202G>T n.4125G>T c.6598G>T (p.Glu2200Ter) c.6571G>T (p.Glu2191Ter) c.6523G>T (p.Glu2175Ter) c.6574G>T (p.Glu2192Ter) c.6643G>T (p.Glu2215Ter) c.6610G>T (p.Glu2204Ter) c.6607G>T (p.Glu2203Ter) c.6532G>T (p.Glu2178Ter) | |
| 3 | g.4787972A>C | CA351640476 | ITPR1 | c.6652A>C (n.6652A>C) c.6617A>C (p.Glu2206Ala) c.6596A>C (p.Glu2199Ala) c.6497A>C (p.Glu2166Ala) c.6452A>C (p.Glu2151Ala) n.533A>C c.997-18131A>C (n.997-18131A>C) c.2540A>C n.4145A>C c.2976A>C c.4403A>C (p.Glu1468Ala) c.3549A>C c.6614A>C (p.Glu2205Ala) c.6569A>C (p.Glu2190Ala) c.447-58167A>C c.3943A>C n.475A>C c.6641A>C (p.Glu2214Ala) n.1689A>C n.203A>C n.4126A>C c.6599A>C (p.Glu2200Ala) c.6572A>C (p.Glu2191Ala) c.6524A>C (p.Glu2175Ala) c.6575A>C (p.Glu2192Ala) c.6644A>C (p.Glu2215Ala) c.6611A>C (p.Glu2204Ala) c.6608A>C (p.Glu2203Ala) c.6533A>C (p.Glu2178Ala) | |
| 3 | g.4787972A>G | CA351640477 | ITPR1 | c.6652A>G (n.6652A>G) c.6617A>G (p.Glu2206Gly) c.6596A>G (p.Glu2199Gly) c.6497A>G (p.Glu2166Gly) c.6452A>G (p.Glu2151Gly) n.533A>G c.997-18131A>G (n.997-18131A>G) c.2540A>G n.4145A>G c.2976A>G c.4403A>G (p.Glu1468Gly) c.3549A>G c.6614A>G (p.Glu2205Gly) c.6569A>G (p.Glu2190Gly) c.447-58167A>G c.3943A>G n.475A>G c.6641A>G (p.Glu2214Gly) n.1689A>G n.203A>G n.4126A>G c.6599A>G (p.Glu2200Gly) c.6572A>G (p.Glu2191Gly) c.6524A>G (p.Glu2175Gly) c.6575A>G (p.Glu2192Gly) c.6644A>G (p.Glu2215Gly) c.6611A>G (p.Glu2204Gly) c.6608A>G (p.Glu2203Gly) c.6533A>G (p.Glu2178Gly) | gnomAD v4 |
| 3 | g.4787972A>T | CA351640478 | ITPR1 | c.6652A>T (n.6652A>T) c.6617A>T (p.Glu2206Val) c.6596A>T (p.Glu2199Val) c.6497A>T (p.Glu2166Val) c.6452A>T (p.Glu2151Val) n.533A>T c.997-18131A>T (n.997-18131A>T) c.2540A>T n.4145A>T c.2976A>T c.4403A>T (p.Glu1468Val) c.3549A>T c.6614A>T (p.Glu2205Val) c.6569A>T (p.Glu2190Val) c.447-58167A>T c.3943A>T n.475A>T c.6641A>T (p.Glu2214Val) n.1689A>T n.203A>T n.4126A>T c.6599A>T (p.Glu2200Val) c.6572A>T (p.Glu2191Val) c.6524A>T (p.Glu2175Val) c.6575A>T (p.Glu2192Val) c.6644A>T (p.Glu2215Val) c.6611A>T (p.Glu2204Val) c.6608A>T (p.Glu2203Val) c.6533A>T (p.Glu2178Val) | |
| 3 | g.4787973A>C | CA351640479 | ITPR1 | c.6653A>C (n.6653A>C) c.6618A>C (p.Glu2206Asp) c.6597A>C (p.Glu2199Asp) c.6498A>C (p.Glu2166Asp) c.6453A>C (p.Glu2151Asp) n.534A>C c.997-18130A>C (n.997-18130A>C) c.2541A>C n.4146A>C c.2977A>C c.4404A>C (p.Glu1468Asp) c.3550A>C c.6615A>C (p.Glu2205Asp) c.6570A>C (p.Glu2190Asp) c.447-58166A>C c.3944A>C n.476A>C c.6642A>C (p.Glu2214Asp) n.1690A>C n.204A>C n.4127A>C c.6600A>C (p.Glu2200Asp) c.6573A>C (p.Glu2191Asp) c.6525A>C (p.Glu2175Asp) c.6576A>C (p.Glu2192Asp) c.6645A>C (p.Glu2215Asp) c.6612A>C (p.Glu2204Asp) c.6609A>C (p.Glu2203Asp) c.6534A>C (p.Glu2178Asp) | |
| 3 | g.4787973A>G | CA432322465 | ITPR1 | c.6653A>G (n.6653A>G) c.6618A>G (p.Glu2206=) c.6597A>G (p.Glu2199=) c.6498A>G (p.Glu2166=) c.6453A>G (p.Glu2151=) n.534A>G c.997-18130A>G (n.997-18130A>G) c.2541A>G n.4146A>G c.2977A>G c.4404A>G (p.Glu1468=) c.3550A>G c.6615A>G (p.Glu2205=) c.6570A>G (p.Glu2190=) c.447-58166A>G c.3944A>G n.476A>G c.6642A>G (p.Glu2214=) n.1690A>G n.204A>G n.4127A>G c.6600A>G (p.Glu2200=) c.6573A>G (p.Glu2191=) c.6525A>G (p.Glu2175=) c.6576A>G (p.Glu2192=) c.6645A>G (p.Glu2215=) c.6612A>G (p.Glu2204=) c.6609A>G (p.Glu2203=) c.6534A>G (p.Glu2178=) |