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 |
|---|---|---|---|---|---|
| 10 | g.75029937T>A | CA377299956 | DUSP29,KAT6B | c.5113T>A (p.Ser1705Thr) c.4564T>A (p.Ser1522Thr) c.4237T>A (p.Ser1413Thr) n.577-3343A>T c.*3622-3343A>T (n.*3622-3343A>T) c.4951T>A (p.Ser1651Thr) c.4075T>A (p.Ser1359Thr) c.3424T>A (p.Ser1142Thr) c.3028T>A (p.Ser1010Thr) c.2770T>A (p.Ser924Thr) c.4048T>A (p.Ser1350Thr) | gnomAD v4 |
| 10 | g.75029937T>C | CA377299953 | DUSP29,KAT6B | c.5113T>C (p.Ser1705Pro) c.4564T>C (p.Ser1522Pro) c.4237T>C (p.Ser1413Pro) n.577-3343A>G c.*3622-3343A>G (n.*3622-3343A>G) c.4951T>C (p.Ser1651Pro) c.4075T>C (p.Ser1359Pro) c.3424T>C (p.Ser1142Pro) c.3028T>C (p.Ser1010Pro) c.2770T>C (p.Ser924Pro) c.4048T>C (p.Ser1350Pro) | |
| 10 | g.75029937T>G | CA377299954 | DUSP29,KAT6B | c.5113T>G (p.Ser1705Ala) c.4564T>G (p.Ser1522Ala) c.4237T>G (p.Ser1413Ala) n.577-3343A>C c.*3622-3343A>C (n.*3622-3343A>C) c.4951T>G (p.Ser1651Ala) c.4075T>G (p.Ser1359Ala) c.3424T>G (p.Ser1142Ala) c.3028T>G (p.Ser1010Ala) c.2770T>G (p.Ser924Ala) c.4048T>G (p.Ser1350Ala) | |
| 10 | g.75029938C>A | CA377299958 | DUSP29,KAT6B | c.5114C>A (p.Ser1705Tyr) c.4565C>A (p.Ser1522Tyr) c.4238C>A (p.Ser1413Tyr) n.577-3344G>T c.*3622-3344G>T (n.*3622-3344G>T) c.4952C>A (p.Ser1651Tyr) c.4076C>A (p.Ser1359Tyr) c.3425C>A (p.Ser1142Tyr) c.3029C>A (p.Ser1010Tyr) c.2771C>A (p.Ser924Tyr) c.4049C>A (p.Ser1350Tyr) | |
| 10 | g.75029938C= | CA1920306885 | DUSP29,KAT6B | c.5114C= (p.Ser1705=) c.4565C= (p.Ser1522=) c.4238C= (p.Ser1413=) n.577-3344G= c.*3622-3344G= (n.*3622-3344G=) c.4952C= (p.Ser1651=) c.4076C= (p.Ser1359=) c.3425C= (p.Ser1142=) c.3029C= (p.Ser1010=) c.2771C= (p.Ser924=) c.4049C= (p.Ser1350=) | |
| 10 | g.75029938C>G | CA209710385 | DUSP29,KAT6B | c.5114C>G (p.Ser1705Cys) c.4565C>G (p.Ser1522Cys) c.4238C>G (p.Ser1413Cys) n.577-3344G>C c.*3622-3344G>C (n.*3622-3344G>C) c.4952C>G (p.Ser1651Cys) c.4076C>G (p.Ser1359Cys) c.3425C>G (p.Ser1142Cys) c.3029C>G (p.Ser1010Cys) c.2771C>G (p.Ser924Cys) c.4049C>G (p.Ser1350Cys) | dbSNP |
| 10 | g.75029938C>T | CA377299959 | DUSP29,KAT6B | c.5114C>T (p.Ser1705Phe) c.4565C>T (p.Ser1522Phe) c.4238C>T (p.Ser1413Phe) n.577-3344G>A c.*3622-3344G>A (n.*3622-3344G>A) c.4952C>T (p.Ser1651Phe) c.4076C>T (p.Ser1359Phe) c.3425C>T (p.Ser1142Phe) c.3029C>T (p.Ser1010Phe) c.2771C>T (p.Ser924Phe) c.4049C>T (p.Ser1350Phe) | COSMIC |
| 10 | g.75029939C>A | CA470300488 | DUSP29,KAT6B | c.5115C>A (p.Ser1705=) c.4566C>A (p.Ser1522=) c.4239C>A (p.Ser1413=) n.577-3345G>T c.*3622-3345G>T (n.*3622-3345G>T) c.4953C>A (p.Ser1651=) c.4077C>A (p.Ser1359=) c.3426C>A (p.Ser1142=) c.3030C>A (p.Ser1010=) c.2772C>A (p.Ser924=) c.4050C>A (p.Ser1350=) | |
| 10 | g.75029939C= | CA1920306886 | DUSP29,KAT6B | c.5115C= (p.Ser1705=) c.4566C= (p.Ser1522=) c.4239C= (p.Ser1413=) n.577-3345G= c.*3622-3345G= (n.*3622-3345G=) c.4953C= (p.Ser1651=) c.4077C= (p.Ser1359=) c.3426C= (p.Ser1142=) c.3030C= (p.Ser1010=) c.2772C= (p.Ser924=) c.4050C= (p.Ser1350=) | |
| 10 | g.75029939C>G | CA470300489 | DUSP29,KAT6B | c.5115C>G (p.Ser1705=) c.4566C>G (p.Ser1522=) c.4239C>G (p.Ser1413=) n.577-3345G>C c.*3622-3345G>C (n.*3622-3345G>C) c.4953C>G (p.Ser1651=) c.4077C>G (p.Ser1359=) c.3426C>G (p.Ser1142=) c.3030C>G (p.Ser1010=) c.2772C>G (p.Ser924=) c.4050C>G (p.Ser1350=) | |
| 10 | g.75029939C>T | CA470300490 | DUSP29,KAT6B | c.5115C>T (p.Ser1705=) c.4566C>T (p.Ser1522=) c.4239C>T (p.Ser1413=) n.577-3345G>A c.*3622-3345G>A (n.*3622-3345G>A) c.4953C>T (p.Ser1651=) c.4077C>T (p.Ser1359=) c.3426C>T (p.Ser1142=) c.3030C>T (p.Ser1010=) c.2772C>T (p.Ser924=) c.4050C>T (p.Ser1350=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.75029940T>A | CA377299962 | DUSP29,KAT6B | c.5116T>A (p.Tyr1706Asn) c.4567T>A (p.Tyr1523Asn) c.4240T>A (p.Tyr1414Asn) n.577-3346A>T c.*3622-3346A>T (n.*3622-3346A>T) c.4954T>A (p.Tyr1652Asn) c.4078T>A (p.Tyr1360Asn) c.3427T>A (p.Tyr1143Asn) c.3031T>A (p.Tyr1011Asn) c.2773T>A (p.Tyr925Asn) c.4051T>A (p.Tyr1351Asn) | |
| 10 | g.75029940T>C | CA377299963 | DUSP29,KAT6B | c.5116T>C (p.Tyr1706His) c.4567T>C (p.Tyr1523His) c.4240T>C (p.Tyr1414His) n.577-3346A>G c.*3622-3346A>G (n.*3622-3346A>G) c.4954T>C (p.Tyr1652His) c.4078T>C (p.Tyr1360His) c.3427T>C (p.Tyr1143His) c.3031T>C (p.Tyr1011His) c.2773T>C (p.Tyr925His) c.4051T>C (p.Tyr1351His) | |
| 10 | g.75029940T>G | CA377299964 | DUSP29,KAT6B | c.5116T>G (p.Tyr1706Asp) c.4567T>G (p.Tyr1523Asp) c.4240T>G (p.Tyr1414Asp) n.577-3346A>C c.*3622-3346A>C (n.*3622-3346A>C) c.4954T>G (p.Tyr1652Asp) c.4078T>G (p.Tyr1360Asp) c.3427T>G (p.Tyr1143Asp) c.3031T>G (p.Tyr1011Asp) c.2773T>G (p.Tyr925Asp) c.4051T>G (p.Tyr1351Asp) | |
| 10 | g.75029941A>C | CA377299967 | DUSP29,KAT6B | c.5117A>C (p.Tyr1706Ser) c.4568A>C (p.Tyr1523Ser) c.4241A>C (p.Tyr1414Ser) n.577-3347T>G c.*3622-3347T>G (n.*3622-3347T>G) c.4955A>C (p.Tyr1652Ser) c.4079A>C (p.Tyr1360Ser) c.3428A>C (p.Tyr1143Ser) c.3032A>C (p.Tyr1011Ser) c.2774A>C (p.Tyr925Ser) c.4052A>C (p.Tyr1351Ser) | |
| 10 | g.75029941A>G | CA377299969 | DUSP29,KAT6B | c.5117A>G (p.Tyr1706Cys) c.4568A>G (p.Tyr1523Cys) c.4241A>G (p.Tyr1414Cys) n.577-3347T>C c.*3622-3347T>C (n.*3622-3347T>C) c.4955A>G (p.Tyr1652Cys) c.4079A>G (p.Tyr1360Cys) c.3428A>G (p.Tyr1143Cys) c.3032A>G (p.Tyr1011Cys) c.2774A>G (p.Tyr925Cys) c.4052A>G (p.Tyr1351Cys) | gnomAD v4 COSMIC |
| 10 | g.75029941A>T | CA377299970 | DUSP29,KAT6B | c.5117A>T (p.Tyr1706Phe) c.4568A>T (p.Tyr1523Phe) c.4241A>T (p.Tyr1414Phe) n.577-3347T>A c.*3622-3347T>A (n.*3622-3347T>A) c.4955A>T (p.Tyr1652Phe) c.4079A>T (p.Tyr1360Phe) c.3428A>T (p.Tyr1143Phe) c.3032A>T (p.Tyr1011Phe) c.2774A>T (p.Tyr925Phe) c.4052A>T (p.Tyr1351Phe) | gnomAD v4 |
| 10 | g.75029942T>A | CA377299971 | DUSP29,KAT6B | c.5118T>A (p.Tyr1706Ter) c.4569T>A (p.Tyr1523Ter) c.4242T>A (p.Tyr1414Ter) n.577-3348A>T c.*3622-3348A>T (n.*3622-3348A>T) c.4956T>A (p.Tyr1652Ter) c.4080T>A (p.Tyr1360Ter) c.3429T>A (p.Tyr1143Ter) c.3033T>A (p.Tyr1011Ter) c.2775T>A (p.Tyr925Ter) c.4053T>A (p.Tyr1351Ter) | |
| 10 | g.75029942T>C | CA470300502 | DUSP29,KAT6B | c.5118T>C (p.Tyr1706=) c.4569T>C (p.Tyr1523=) c.4242T>C (p.Tyr1414=) n.577-3348A>G c.*3622-3348A>G (n.*3622-3348A>G) c.4956T>C (p.Tyr1652=) c.4080T>C (p.Tyr1360=) c.3429T>C (p.Tyr1143=) c.3033T>C (p.Tyr1011=) c.2775T>C (p.Tyr925=) c.4053T>C (p.Tyr1351=) | |
| 10 | g.75029942T>G | CA377299972 | DUSP29,KAT6B | c.5118T>G (p.Tyr1706Ter) c.4569T>G (p.Tyr1523Ter) c.4242T>G (p.Tyr1414Ter) n.577-3348A>C c.*3622-3348A>C (n.*3622-3348A>C) c.4956T>G (p.Tyr1652Ter) c.4080T>G (p.Tyr1360Ter) c.3429T>G (p.Tyr1143Ter) c.3033T>G (p.Tyr1011Ter) c.2775T>G (p.Tyr925Ter) c.4053T>G (p.Tyr1351Ter) | |
| 10 | g.75029943A= | CA1920306887 | DUSP29,KAT6B | c.5119A= (p.Ser1707=) c.4570A= (p.Ser1524=) c.4243A= (p.Ser1415=) n.577-3349T= c.*3622-3349T= (n.*3622-3349T=) c.4957A= (p.Ser1653=) c.4081A= (p.Ser1361=) c.3430A= (p.Ser1144=) c.3034A= (p.Ser1012=) c.2776A= (p.Ser926=) c.4054A= (p.Ser1352=) | |
| 10 | g.75029943A>C | CA377299976 | DUSP29,KAT6B | c.5119A>C (p.Ser1707Arg) c.4570A>C (p.Ser1524Arg) c.4243A>C (p.Ser1415Arg) n.577-3349T>G c.*3622-3349T>G (n.*3622-3349T>G) c.4957A>C (p.Ser1653Arg) c.4081A>C (p.Ser1361Arg) c.3430A>C (p.Ser1144Arg) c.3034A>C (p.Ser1012Arg) c.2776A>C (p.Ser926Arg) c.4054A>C (p.Ser1352Arg) | |
| 10 | g.75029943A>G | CA5565144 | DUSP29,KAT6B | c.5119A>G (p.Ser1707Gly) c.4570A>G (p.Ser1524Gly) c.4243A>G (p.Ser1415Gly) n.577-3349T>C c.*3622-3349T>C (n.*3622-3349T>C) c.4957A>G (p.Ser1653Gly) c.4081A>G (p.Ser1361Gly) c.3430A>G (p.Ser1144Gly) c.3034A>G (p.Ser1012Gly) c.2776A>G (p.Ser926Gly) c.4054A>G (p.Ser1352Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75029943A>T | CA377299975 | DUSP29,KAT6B | c.5119A>T (p.Ser1707Cys) c.4570A>T (p.Ser1524Cys) c.4243A>T (p.Ser1415Cys) n.577-3349T>A c.*3622-3349T>A (n.*3622-3349T>A) c.4957A>T (p.Ser1653Cys) c.4081A>T (p.Ser1361Cys) c.3430A>T (p.Ser1144Cys) c.3034A>T (p.Ser1012Cys) c.2776A>T (p.Ser926Cys) c.4054A>T (p.Ser1352Cys) | |
| 10 | g.75029944G>A | CA377299978 | DUSP29,KAT6B | c.5120G>A (p.Ser1707Asn) c.4571G>A (p.Ser1524Asn) c.4244G>A (p.Ser1415Asn) n.577-3350C>T c.*3622-3350C>T (n.*3622-3350C>T) c.4958G>A (p.Ser1653Asn) c.4082G>A (p.Ser1361Asn) c.3431G>A (p.Ser1144Asn) c.3035G>A (p.Ser1012Asn) c.2777G>A (p.Ser926Asn) c.4055G>A (p.Ser1352Asn) | |
| 10 | g.75029944G>C | CA377299980 | DUSP29,KAT6B | c.5120G>C (p.Ser1707Thr) c.4571G>C (p.Ser1524Thr) c.4244G>C (p.Ser1415Thr) n.577-3350C>G c.*3622-3350C>G (n.*3622-3350C>G) c.4958G>C (p.Ser1653Thr) c.4082G>C (p.Ser1361Thr) c.3431G>C (p.Ser1144Thr) c.3035G>C (p.Ser1012Thr) c.2777G>C (p.Ser926Thr) c.4055G>C (p.Ser1352Thr) | |
| 10 | g.75029944G>T | CA377299982 | DUSP29,KAT6B | c.5120G>T (p.Ser1707Ile) c.4571G>T (p.Ser1524Ile) c.4244G>T (p.Ser1415Ile) n.577-3350C>A c.*3622-3350C>A (n.*3622-3350C>A) c.4958G>T (p.Ser1653Ile) c.4082G>T (p.Ser1361Ile) c.3431G>T (p.Ser1144Ile) c.3035G>T (p.Ser1012Ile) c.2777G>T (p.Ser926Ile) c.4055G>T (p.Ser1352Ile) | |
| 10 | g.75029945C>A | CA377299984 | DUSP29,KAT6B | c.5121C>A (p.Ser1707Arg) c.4572C>A (p.Ser1524Arg) c.4245C>A (p.Ser1415Arg) n.577-3351G>T c.*3622-3351G>T (n.*3622-3351G>T) c.4959C>A (p.Ser1653Arg) c.4083C>A (p.Ser1361Arg) c.3432C>A (p.Ser1144Arg) c.3036C>A (p.Ser1012Arg) c.2778C>A (p.Ser926Arg) c.4056C>A (p.Ser1352Arg) | |
| 10 | g.75029945C>G | CA377299985 | DUSP29,KAT6B | c.5121C>G (p.Ser1707Arg) c.4572C>G (p.Ser1524Arg) c.4245C>G (p.Ser1415Arg) n.577-3351G>C c.*3622-3351G>C (n.*3622-3351G>C) c.4959C>G (p.Ser1653Arg) c.4083C>G (p.Ser1361Arg) c.3432C>G (p.Ser1144Arg) c.3036C>G (p.Ser1012Arg) c.2778C>G (p.Ser926Arg) c.4056C>G (p.Ser1352Arg) | |
| 10 | g.75029945C>T | CA470300512 | DUSP29,KAT6B | c.5121C>T (p.Ser1707=) c.4572C>T (p.Ser1524=) c.4245C>T (p.Ser1415=) n.577-3351G>A c.*3622-3351G>A (n.*3622-3351G>A) c.4959C>T (p.Ser1653=) c.4083C>T (p.Ser1361=) c.3432C>T (p.Ser1144=) c.3036C>T (p.Ser1012=) c.2778C>T (p.Ser926=) c.4056C>T (p.Ser1352=) | |
| 10 | g.75029946A>C | CA377299990 | DUSP29,KAT6B | c.5122A>C (p.Asn1708His) c.4573A>C (p.Asn1525His) c.4246A>C (p.Asn1416His) n.577-3352T>G c.*3622-3352T>G (n.*3622-3352T>G) c.4960A>C (p.Asn1654His) c.4084A>C (p.Asn1362His) c.3433A>C (p.Asn1145His) c.3037A>C (p.Asn1013His) c.2779A>C (p.Asn927His) c.4057A>C (p.Asn1353His) | gnomAD v4 |
| 10 | g.75029946A>G | CA377299988 | DUSP29,KAT6B | c.5122A>G (p.Asn1708Asp) c.4573A>G (p.Asn1525Asp) c.4246A>G (p.Asn1416Asp) n.577-3352T>C c.*3622-3352T>C (n.*3622-3352T>C) c.4960A>G (p.Asn1654Asp) c.4084A>G (p.Asn1362Asp) c.3433A>G (p.Asn1145Asp) c.3037A>G (p.Asn1013Asp) c.2779A>G (p.Asn927Asp) c.4057A>G (p.Asn1353Asp) | |
| 10 | g.75029946A>T | CA377299989 | DUSP29,KAT6B | c.5122A>T (p.Asn1708Tyr) c.4573A>T (p.Asn1525Tyr) c.4246A>T (p.Asn1416Tyr) n.577-3352T>A c.*3622-3352T>A (n.*3622-3352T>A) c.4960A>T (p.Asn1654Tyr) c.4084A>T (p.Asn1362Tyr) c.3433A>T (p.Asn1145Tyr) c.3037A>T (p.Asn1013Tyr) c.2779A>T (p.Asn927Tyr) c.4057A>T (p.Asn1353Tyr) | |
| 10 | g.75029947A>C | CA377299992 | DUSP29,KAT6B | c.5123A>C (p.Asn1708Thr) c.4574A>C (p.Asn1525Thr) c.4247A>C (p.Asn1416Thr) n.577-3353T>G c.*3622-3353T>G (n.*3622-3353T>G) c.4961A>C (p.Asn1654Thr) c.4085A>C (p.Asn1362Thr) c.3434A>C (p.Asn1145Thr) c.3038A>C (p.Asn1013Thr) c.2780A>C (p.Asn927Thr) c.4058A>C (p.Asn1353Thr) | |
| 10 | g.75029947A>G | CA377299993 | DUSP29,KAT6B | c.5123A>G (p.Asn1708Ser) c.4574A>G (p.Asn1525Ser) c.4247A>G (p.Asn1416Ser) n.577-3353T>C c.*3622-3353T>C (n.*3622-3353T>C) c.4961A>G (p.Asn1654Ser) c.4085A>G (p.Asn1362Ser) c.3434A>G (p.Asn1145Ser) c.3038A>G (p.Asn1013Ser) c.2780A>G (p.Asn927Ser) c.4058A>G (p.Asn1353Ser) | |
| 10 | g.75029947A>T | CA377299995 | DUSP29,KAT6B | c.5123A>T (p.Asn1708Ile) c.4574A>T (p.Asn1525Ile) c.4247A>T (p.Asn1416Ile) n.577-3353T>A c.*3622-3353T>A (n.*3622-3353T>A) c.4961A>T (p.Asn1654Ile) c.4085A>T (p.Asn1362Ile) c.3434A>T (p.Asn1145Ile) c.3038A>T (p.Asn1013Ile) c.2780A>T (p.Asn927Ile) c.4058A>T (p.Asn1353Ile) | |
| 10 | g.75029947_75029948delinsAC | CA1920306888 | DUSP29,KAT6B | c.5123_5124delinsAC (p.Asn1708=) c.4574_4575delinsAC (p.Asn1525=) c.4247_4248delinsAC (p.Asn1416=) n.577-3354_577-3353delinsGT c.*3622-3354_*3622-3353delinsGT (n.*3622-3354_*3622-3353delinsGT) c.4961_4962delinsAC (p.Asn1654=) c.4085_4086delinsAC (p.Asn1362=) c.3434_3435delinsAC (p.Asn1145=) c.3038_3039delinsAC (p.Asn1013=) c.2780_2781delinsAC (p.Asn927=) c.4058_4059delinsAC (p.Asn1353=) | |
| 10 | g.75029948C>A | CA377299996 | DUSP29,KAT6B | c.5124C>A (p.Asn1708Lys) c.4575C>A (p.Asn1525Lys) c.4248C>A (p.Asn1416Lys) n.577-3354G>T c.*3622-3354G>T (n.*3622-3354G>T) c.4962C>A (p.Asn1654Lys) c.4086C>A (p.Asn1362Lys) c.3435C>A (p.Asn1145Lys) c.3039C>A (p.Asn1013Lys) c.2781C>A (p.Asn927Lys) c.4059C>A (p.Asn1353Lys) | |
| 10 | g.75029948C>G | CA377299998 | DUSP29,KAT6B | c.5124C>G (p.Asn1708Lys) c.4575C>G (p.Asn1525Lys) c.4248C>G (p.Asn1416Lys) n.577-3354G>C c.*3622-3354G>C (n.*3622-3354G>C) c.4962C>G (p.Asn1654Lys) c.4086C>G (p.Asn1362Lys) c.3435C>G (p.Asn1145Lys) c.3039C>G (p.Asn1013Lys) c.2781C>G (p.Asn927Lys) c.4059C>G (p.Asn1353Lys) | |
| 10 | g.75029948C>T | CA470300523 | DUSP29,KAT6B | c.5124C>T (p.Asn1708=) c.4575C>T (p.Asn1525=) c.4248C>T (p.Asn1416=) n.577-3354G>A c.*3622-3354G>A (n.*3622-3354G>A) c.4962C>T (p.Asn1654=) c.4086C>T (p.Asn1362=) c.3435C>T (p.Asn1145=) c.3039C>T (p.Asn1013=) c.2781C>T (p.Asn927=) c.4059C>T (p.Asn1353=) | |
| 10 | g.75029949del | CA1139661518 | DUSP29,KAT6B | c.5125del (p.Leu1709SerfsTer6) c.4576del (p.Leu1526SerfsTer6) c.4249del (p.Leu1417SerfsTer6) n.577-3354del c.*3622-3354del (n.*3622-3354del) c.4963del (p.Leu1655SerfsTer6) c.4087del (p.Leu1363SerfsTer6) c.3436del (p.Leu1146SerfsTer6) c.3040del (p.Leu1014SerfsTer6) c.2782del (p.Leu928SerfsTer6) c.4060del (p.Leu1354SerfsTer6) | ClinVar dbSNP |
| 10 | g.75029949C>A | CA377300003 | DUSP29,KAT6B | c.5125C>A (p.Leu1709Ile) c.4576C>A (p.Leu1526Ile) c.4249C>A (p.Leu1417Ile) n.577-3355G>T c.*3622-3355G>T (n.*3622-3355G>T) c.4963C>A (p.Leu1655Ile) c.4087C>A (p.Leu1363Ile) c.3436C>A (p.Leu1146Ile) c.3040C>A (p.Leu1014Ile) c.2782C>A (p.Leu928Ile) c.4060C>A (p.Leu1354Ile) | |
| 10 | g.75029949C>G | CA377300000 | DUSP29,KAT6B | c.5125C>G (p.Leu1709Val) c.4576C>G (p.Leu1526Val) c.4249C>G (p.Leu1417Val) n.577-3355G>C c.*3622-3355G>C (n.*3622-3355G>C) c.4963C>G (p.Leu1655Val) c.4087C>G (p.Leu1363Val) c.3436C>G (p.Leu1146Val) c.3040C>G (p.Leu1014Val) c.2782C>G (p.Leu928Val) c.4060C>G (p.Leu1354Val) | |
| 10 | g.75029949C>T | CA377300002 | DUSP29,KAT6B | c.5125C>T (p.Leu1709Phe) c.4576C>T (p.Leu1526Phe) c.4249C>T (p.Leu1417Phe) n.577-3355G>A c.*3622-3355G>A (n.*3622-3355G>A) c.4963C>T (p.Leu1655Phe) c.4087C>T (p.Leu1363Phe) c.3436C>T (p.Leu1146Phe) c.3040C>T (p.Leu1014Phe) c.2782C>T (p.Leu928Phe) c.4060C>T (p.Leu1354Phe) | |
| 10 | g.75029950T>A | CA377300004 | DUSP29,KAT6B | c.5126T>A (p.Leu1709His) c.4577T>A (p.Leu1526His) c.4250T>A (p.Leu1417His) n.577-3356A>T c.*3622-3356A>T (n.*3622-3356A>T) c.4964T>A (p.Leu1655His) c.4088T>A (p.Leu1363His) c.3437T>A (p.Leu1146His) c.3041T>A (p.Leu1014His) c.2783T>A (p.Leu928His) c.4061T>A (p.Leu1354His) | |
| 10 | g.75029950T>C | CA377300006 | DUSP29,KAT6B | c.5126T>C (p.Leu1709Pro) c.4577T>C (p.Leu1526Pro) c.4250T>C (p.Leu1417Pro) n.577-3356A>G c.*3622-3356A>G (n.*3622-3356A>G) c.4964T>C (p.Leu1655Pro) c.4088T>C (p.Leu1363Pro) c.3437T>C (p.Leu1146Pro) c.3041T>C (p.Leu1014Pro) c.2783T>C (p.Leu928Pro) c.4061T>C (p.Leu1354Pro) | |
| 10 | g.75029950T>G | CA377300008 | DUSP29,KAT6B | c.5126T>G (p.Leu1709Arg) c.4577T>G (p.Leu1526Arg) c.4250T>G (p.Leu1417Arg) n.577-3356A>C c.*3622-3356A>C (n.*3622-3356A>C) c.4964T>G (p.Leu1655Arg) c.4088T>G (p.Leu1363Arg) c.3437T>G (p.Leu1146Arg) c.3041T>G (p.Leu1014Arg) c.2783T>G (p.Leu928Arg) c.4061T>G (p.Leu1354Arg) | |
| 10 | g.75029951C>A | CA470300530 | DUSP29,KAT6B | c.5127C>A (p.Leu1709=) c.4578C>A (p.Leu1526=) c.4251C>A (p.Leu1417=) n.577-3357G>T c.*3622-3357G>T (n.*3622-3357G>T) c.4965C>A (p.Leu1655=) c.4089C>A (p.Leu1363=) c.3438C>A (p.Leu1146=) c.3042C>A (p.Leu1014=) c.2784C>A (p.Leu928=) c.4062C>A (p.Leu1354=) | |
| 10 | g.75029951C= | CA1920306889 | DUSP29,KAT6B | c.5127C= (p.Leu1709=) c.4578C= (p.Leu1526=) c.4251C= (p.Leu1417=) n.577-3357G= c.*3622-3357G= (n.*3622-3357G=) c.4965C= (p.Leu1655=) c.4089C= (p.Leu1363=) c.3438C= (p.Leu1146=) c.3042C= (p.Leu1014=) c.2784C= (p.Leu928=) c.4062C= (p.Leu1354=) | |
| 10 | g.75029951C>G | CA470300531 | DUSP29,KAT6B | c.5127C>G (p.Leu1709=) c.4578C>G (p.Leu1526=) c.4251C>G (p.Leu1417=) n.577-3357G>C c.*3622-3357G>C (n.*3622-3357G>C) c.4965C>G (p.Leu1655=) c.4089C>G (p.Leu1363=) c.3438C>G (p.Leu1146=) c.3042C>G (p.Leu1014=) c.2784C>G (p.Leu928=) c.4062C>G (p.Leu1354=) |