Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760753T>A | CA351066737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>A (n.856-6281T>A) c.868-6281T>A (n.868-6281T>A) c.862-6281T>A (n.862-6281T>A) c.466T>A (p.Cys156Ser) c.61-6281T>A (n.61-6281T>A) c.442-6281T>A (n.442-6281T>A) | |
2 | g.233760753T>C | CA351066738 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>C (n.856-6281T>C) c.868-6281T>C (n.868-6281T>C) c.862-6281T>C (n.862-6281T>C) c.466T>C (p.Cys156Arg) c.61-6281T>C (n.61-6281T>C) c.442-6281T>C (n.442-6281T>C) | |
2 | g.233760753T>G | CA351066739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>G (n.856-6281T>G) c.868-6281T>G (n.868-6281T>G) c.862-6281T>G (n.862-6281T>G) c.466T>G (p.Cys156Gly) c.61-6281T>G (n.61-6281T>G) c.442-6281T>G (n.442-6281T>G) | |
2 | g.233760754G>A | CA351066740 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>A (n.856-6280G>A) c.868-6280G>A (n.868-6280G>A) c.862-6280G>A (n.862-6280G>A) c.467G>A (p.Cys156Tyr) c.61-6280G>A (n.61-6280G>A) c.442-6280G>A (n.442-6280G>A) | |
2 | g.233760754G>C | CA351066741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>C (n.856-6280G>C) c.868-6280G>C (n.868-6280G>C) c.862-6280G>C (n.862-6280G>C) c.467G>C (p.Cys156Ser) c.61-6280G>C (n.61-6280G>C) c.442-6280G>C (n.442-6280G>C) | |
2 | g.233760754G= | CA1335889395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G= (n.856-6280G=) c.868-6280G= (n.868-6280G=) c.862-6280G= (n.862-6280G=) c.467G= (p.Cys156=) c.61-6280G= (n.61-6280G=) c.442-6280G= (n.442-6280G=) | |
2 | g.233760754G>T | CA351066742 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>T (n.856-6280G>T) c.868-6280G>T (n.868-6280G>T) c.862-6280G>T (n.862-6280G>T) c.467G>T (p.Cys156Phe) c.61-6280G>T (n.61-6280G>T) c.442-6280G>T (n.442-6280G>T) | |
2 | g.233760755C>A | CA351066743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>A (n.856-6279C>A) c.868-6279C>A (n.868-6279C>A) c.862-6279C>A (n.862-6279C>A) c.468C>A (p.Cys156Ter) c.61-6279C>A (n.61-6279C>A) c.442-6279C>A (n.442-6279C>A) | |
2 | g.233760755C>G | CA351066744 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>G (n.856-6279C>G) c.868-6279C>G (n.868-6279C>G) c.862-6279C>G (n.862-6279C>G) c.468C>G (p.Cys156Trp) c.61-6279C>G (n.61-6279C>G) c.442-6279C>G (n.442-6279C>G) | |
2 | g.233760755C>T | CA431960447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>T (n.856-6279C>T) c.868-6279C>T (n.868-6279C>T) c.862-6279C>T (n.862-6279C>T) c.468C>T (p.Cys156=) c.61-6279C>T (n.61-6279C>T) c.442-6279C>T (n.442-6279C>T) | COSMIC |
2 | g.233760755_233760756insCC | CA1335889397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279_856-6278insCC (n.856-6279_856-6278insCC) c.868-6279_868-6278insCC (n.868-6279_868-6278insCC) c.862-6279_862-6278insCC (n.862-6279_862-6278insCC) c.468_469insCC (p.Ser157ProfsTer?) c.61-6279_61-6278insCC (n.61-6279_61-6278insCC) c.442-6279_442-6278insCC (n.442-6279_442-6278insCC) | dbSNP |
2 | g.233760756A>C | CA351066745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>C (n.856-6278A>C) c.868-6278A>C (n.868-6278A>C) c.862-6278A>C (n.862-6278A>C) c.469A>C (p.Ser157Arg) c.61-6278A>C (n.61-6278A>C) c.442-6278A>C (n.442-6278A>C) | |
2 | g.233760756A>G | CA351066746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>G (n.856-6278A>G) c.868-6278A>G (n.868-6278A>G) c.862-6278A>G (n.862-6278A>G) c.469A>G (p.Ser157Gly) c.61-6278A>G (n.61-6278A>G) c.442-6278A>G (n.442-6278A>G) | |
2 | g.233760756A>T | CA351066747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>T (n.856-6278A>T) c.868-6278A>T (n.868-6278A>T) c.862-6278A>T (n.862-6278A>T) c.469A>T (p.Ser157Cys) c.61-6278A>T (n.61-6278A>T) c.442-6278A>T (n.442-6278A>T) | |
2 | g.233760757G>A | CA67589996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>A (n.856-6277G>A) c.868-6277G>A (n.868-6277G>A) c.862-6277G>A (n.862-6277G>A) c.470G>A (p.Ser157Asn) c.61-6277G>A (n.61-6277G>A) c.442-6277G>A (n.442-6277G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760757G>C | CA351066748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>C (n.856-6277G>C) c.868-6277G>C (n.868-6277G>C) c.862-6277G>C (n.862-6277G>C) c.470G>C (p.Ser157Thr) c.61-6277G>C (n.61-6277G>C) c.442-6277G>C (n.442-6277G>C) | |
2 | g.233760757G= | CA1335889398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G= (n.856-6277G=) c.868-6277G= (n.868-6277G=) c.862-6277G= (n.862-6277G=) c.470G= (p.Ser157=) c.61-6277G= (n.61-6277G=) c.442-6277G= (n.442-6277G=) | |
2 | g.233760757G>T | CA351066749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>T (n.856-6277G>T) c.868-6277G>T (n.868-6277G>T) c.862-6277G>T (n.862-6277G>T) c.470G>T (p.Ser157Ile) c.61-6277G>T (n.61-6277G>T) c.442-6277G>T (n.442-6277G>T) | |
2 | g.233760758C>A | CA351066750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>A (n.856-6276C>A) c.868-6276C>A (n.868-6276C>A) c.862-6276C>A (n.862-6276C>A) c.471C>A (p.Ser157Arg) c.61-6276C>A (n.61-6276C>A) c.442-6276C>A (n.442-6276C>A) | |
2 | g.233760758C= | CA1335889400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C= (n.856-6276C=) c.868-6276C= (n.868-6276C=) c.862-6276C= (n.862-6276C=) c.471C= (p.Ser157=) c.61-6276C= (n.61-6276C=) c.442-6276C= (n.442-6276C=) | |
2 | g.233760758C>G | CA351066751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>G (n.856-6276C>G) c.868-6276C>G (n.868-6276C>G) c.862-6276C>G (n.862-6276C>G) c.471C>G (p.Ser157Arg) c.61-6276C>G (n.61-6276C>G) c.442-6276C>G (n.442-6276C>G) | |
2 | g.233760758C>T | CA2179828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>T (n.856-6276C>T) c.868-6276C>T (n.868-6276C>T) c.862-6276C>T (n.862-6276C>T) c.471C>T (p.Ser157=) c.61-6276C>T (n.61-6276C>T) c.442-6276C>T (n.442-6276C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760759C>A | CA351066752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>A (n.856-6275C>A) c.868-6275C>A (n.868-6275C>A) c.862-6275C>A (n.862-6275C>A) c.472C>A (p.Pro158Thr) c.61-6275C>A (n.61-6275C>A) c.442-6275C>A (n.442-6275C>A) | dbSNP |
2 | g.233760759C= | CA1335889402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C= (n.856-6275C=) c.868-6275C= (n.868-6275C=) c.862-6275C= (n.862-6275C=) c.472C= (p.Pro158=) c.61-6275C= (n.61-6275C=) c.442-6275C= (n.442-6275C=) | |
2 | g.233760759C>G | CA351066753 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>G (n.856-6275C>G) c.868-6275C>G (n.868-6275C>G) c.862-6275C>G (n.862-6275C>G) c.472C>G (p.Pro158Ala) c.61-6275C>G (n.61-6275C>G) c.442-6275C>G (n.442-6275C>G) | |
2 | g.233760759C>T | CA351066754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>T (n.856-6275C>T) c.868-6275C>T (n.868-6275C>T) c.862-6275C>T (n.862-6275C>T) c.472C>T (p.Pro158Ser) c.61-6275C>T (n.61-6275C>T) c.442-6275C>T (n.442-6275C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760760C>A | CA351066755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>A (n.856-6274C>A) c.868-6274C>A (n.868-6274C>A) c.862-6274C>A (n.862-6274C>A) c.473C>A (p.Pro158His) c.61-6274C>A (n.61-6274C>A) c.442-6274C>A (n.442-6274C>A) | dbSNP |
2 | g.233760760C= | CA1335889404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C= (n.856-6274C=) c.868-6274C= (n.868-6274C=) c.862-6274C= (n.862-6274C=) c.473C= (p.Pro158=) c.61-6274C= (n.61-6274C=) c.442-6274C= (n.442-6274C=) | |
2 | g.233760760C>G | CA351066757 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>G (n.856-6274C>G) c.868-6274C>G (n.868-6274C>G) c.862-6274C>G (n.862-6274C>G) c.473C>G (p.Pro158Arg) c.61-6274C>G (n.61-6274C>G) c.442-6274C>G (n.442-6274C>G) | dbSNP gnomAD v4 |
2 | g.233760760C>T | CA351066756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>T (n.856-6274C>T) c.868-6274C>T (n.868-6274C>T) c.862-6274C>T (n.862-6274C>T) c.473C>T (p.Pro158Leu) c.61-6274C>T (n.61-6274C>T) c.442-6274C>T (n.442-6274C>T) | |
2 | g.233760761C>A | CA431960448 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>A (n.856-6273C>A) c.868-6273C>A (n.868-6273C>A) c.862-6273C>A (n.862-6273C>A) c.474C>A (p.Pro158=) c.61-6273C>A (n.61-6273C>A) c.442-6273C>A (n.442-6273C>A) | |
2 | g.233760761C= | CA1335889406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C= (n.856-6273C=) c.868-6273C= (n.868-6273C=) c.862-6273C= (n.862-6273C=) c.474C= (p.Pro158=) c.61-6273C= (n.61-6273C=) c.442-6273C= (n.442-6273C=) | |
2 | g.233760761C>G | CA431960449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>G (n.856-6273C>G) c.868-6273C>G (n.868-6273C>G) c.862-6273C>G (n.862-6273C>G) c.474C>G (p.Pro158=) c.61-6273C>G (n.61-6273C>G) c.442-6273C>G (n.442-6273C>G) | dbSNP |
2 | g.233760761C>T | CA431960450 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>T (n.856-6273C>T) c.868-6273C>T (n.868-6273C>T) c.862-6273C>T (n.862-6273C>T) c.474C>T (p.Pro158=) c.61-6273C>T (n.61-6273C>T) c.442-6273C>T (n.442-6273C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760761_233760763delinsCAT | CA1335889408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273_856-6271delinsCAT (n.856-6273_856-6271delinsCAT) c.868-6273_868-6271delinsCAT (n.868-6273_868-6271delinsCAT) c.862-6273_862-6271delinsCAT (n.862-6273_862-6271delinsCAT) c.474_476delinsCAT (p.Pro158=) c.61-6273_61-6271delinsCAT (n.61-6273_61-6271delinsCAT) c.442-6273_442-6271delinsCAT (n.442-6273_442-6271delinsCAT) | |
2 | g.233760761_233760762insT | CA122072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273_856-6272insT (n.856-6273_856-6272insT) c.868-6273_868-6272insT (n.868-6273_868-6272insT) c.862-6273_862-6272insT (n.862-6273_862-6272insT) c.474_475insT (p.Ile159TyrfsTer24) c.61-6273_61-6272insT (n.61-6273_61-6272insT) c.442-6273_442-6272insT (n.442-6273_442-6272insT) | ClinVar dbSNP |
2 | g.233760762A>C | CA351066758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>C (n.856-6272A>C) c.868-6272A>C (n.868-6272A>C) c.862-6272A>C (n.862-6272A>C) c.475A>C (p.Ile159Leu) c.61-6272A>C (n.61-6272A>C) c.442-6272A>C (n.442-6272A>C) | |
2 | g.233760762A>G | CA351066759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>G (n.856-6272A>G) c.868-6272A>G (n.868-6272A>G) c.862-6272A>G (n.862-6272A>G) c.475A>G (p.Ile159Val) c.61-6272A>G (n.61-6272A>G) c.442-6272A>G (n.442-6272A>G) | gnomAD v4 |
2 | g.233760762A>T | CA351066760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>T (n.856-6272A>T) c.868-6272A>T (n.868-6272A>T) c.862-6272A>T (n.862-6272A>T) c.475A>T (p.Ile159Phe) c.61-6272A>T (n.61-6272A>T) c.442-6272A>T (n.442-6272A>T) | |
2 | g.233760762_233760763del | CA1335889411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272_856-6271del (n.856-6272_856-6271del) c.868-6272_868-6271del (n.868-6272_868-6271del) c.862-6272_862-6271del (n.862-6272_862-6271del) c.475_476del (p.Ile159ArgfsTer23) c.61-6272_61-6271del (n.61-6272_61-6271del) c.442-6272_442-6271del (n.442-6272_442-6271del) | dbSNP |
2 | g.233760763T>A | CA351066761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>A (n.856-6271T>A) c.868-6271T>A (n.868-6271T>A) c.862-6271T>A (n.862-6271T>A) c.476T>A (p.Ile159Asn) c.61-6271T>A (n.61-6271T>A) c.442-6271T>A (n.442-6271T>A) | |
2 | g.233760763T>C | CA173877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>C (n.856-6271T>C) c.868-6271T>C (n.868-6271T>C) c.862-6271T>C (n.862-6271T>C) c.476T>C (p.Ile159Thr) c.61-6271T>C (n.61-6271T>C) c.442-6271T>C (n.442-6271T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760763T>G | CA351066763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>G (n.856-6271T>G) c.868-6271T>G (n.868-6271T>G) c.862-6271T>G (n.862-6271T>G) c.476T>G (p.Ile159Ser) c.61-6271T>G (n.61-6271T>G) c.442-6271T>G (n.442-6271T>G) | |
2 | g.233760763T= | CA1335889414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T= (n.856-6271T=) c.868-6271T= (n.868-6271T=) c.862-6271T= (n.862-6271T=) c.476T= (p.Ile159=) c.61-6271T= (n.61-6271T=) c.442-6271T= (n.442-6271T=) | |
2 | g.233760764C>A | CA67590026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>A (n.856-6270C>A) c.868-6270C>A (n.868-6270C>A) c.862-6270C>A (n.862-6270C>A) c.477C>A (p.Ile159=) c.61-6270C>A (n.61-6270C>A) c.442-6270C>A (n.442-6270C>A) | dbSNP gnomAD v4 |
2 | g.233760764C= | CA1335889420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C= (n.856-6270C=) c.868-6270C= (n.868-6270C=) c.862-6270C= (n.862-6270C=) c.477C= (p.Ile159=) c.61-6270C= (n.61-6270C=) c.442-6270C= (n.442-6270C=) | |
2 | g.233760764C>G | CA351066765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>G (n.856-6270C>G) c.868-6270C>G (n.868-6270C>G) c.862-6270C>G (n.862-6270C>G) c.477C>G (p.Ile159Met) c.61-6270C>G (n.61-6270C>G) c.442-6270C>G (n.442-6270C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760764C>T | CA2179829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>T (n.856-6270C>T) c.868-6270C>T (n.868-6270C>T) c.862-6270C>T (n.862-6270C>T) c.477C>T (p.Ile159=) c.61-6270C>T (n.61-6270C>T) c.442-6270C>T (n.442-6270C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760765G>A | CA2179830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>A (n.856-6269G>A) c.868-6269G>A (n.868-6269G>A) c.862-6269G>A (n.862-6269G>A) c.478G>A (p.Val160Met) c.61-6269G>A (n.61-6269G>A) c.442-6269G>A (n.442-6269G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760765G>C | CA351066769 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>C (n.856-6269G>C) c.868-6269G>C (n.868-6269G>C) c.862-6269G>C (n.862-6269G>C) c.478G>C (p.Val160Leu) c.61-6269G>C (n.61-6269G>C) c.442-6269G>C (n.442-6269G>C) | |
2 | g.233760765G= | CA1335889424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G= (n.856-6269G=) c.868-6269G= (n.868-6269G=) c.862-6269G= (n.862-6269G=) c.478G= (p.Val160=) c.61-6269G= (n.61-6269G=) c.442-6269G= (n.442-6269G=) | |
2 | g.233760765G>T | CA351066771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>T (n.856-6269G>T) c.868-6269G>T (n.868-6269G>T) c.862-6269G>T (n.862-6269G>T) c.478G>T (p.Val160Leu) c.61-6269G>T (n.61-6269G>T) c.442-6269G>T (n.442-6269G>T) | |
2 | g.233760766T>A | CA173880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>A (n.856-6268T>A) c.868-6268T>A (n.868-6268T>A) c.862-6268T>A (n.862-6268T>A) c.479T>A (p.Val160Glu) c.61-6268T>A (n.61-6268T>A) c.442-6268T>A (n.442-6268T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760766T>C | CA351066776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>C (n.856-6268T>C) c.868-6268T>C (n.868-6268T>C) c.862-6268T>C (n.862-6268T>C) c.479T>C (p.Val160Ala) c.61-6268T>C (n.61-6268T>C) c.442-6268T>C (n.442-6268T>C) | |
2 | g.233760766T>G | CA351066774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>G (n.856-6268T>G) c.868-6268T>G (n.868-6268T>G) c.862-6268T>G (n.862-6268T>G) c.479T>G (p.Val160Gly) c.61-6268T>G (n.61-6268T>G) c.442-6268T>G (n.442-6268T>G) | |
2 | g.233760766T= | CA1335889427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T= (n.856-6268T=) c.868-6268T= (n.868-6268T=) c.862-6268T= (n.862-6268T=) c.479T= (p.Val160=) c.61-6268T= (n.61-6268T=) c.442-6268T= (n.442-6268T=) | |
2 | g.233760767G>A | CA431960453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>A (n.856-6267G>A) c.868-6267G>A (n.868-6267G>A) c.862-6267G>A (n.862-6267G>A) c.480G>A (p.Val160=) c.61-6267G>A (n.61-6267G>A) c.442-6267G>A (n.442-6267G>A) | |
2 | g.233760767G>C | CA431960452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>C (n.856-6267G>C) c.868-6267G>C (n.868-6267G>C) c.862-6267G>C (n.862-6267G>C) c.480G>C (p.Val160=) c.61-6267G>C (n.61-6267G>C) c.442-6267G>C (n.442-6267G>C) | |
2 | g.233760767G>T | CA431960451 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>T (n.856-6267G>T) c.868-6267G>T (n.868-6267G>T) c.862-6267G>T (n.862-6267G>T) c.480G>T (p.Val160=) c.61-6267G>T (n.61-6267G>T) c.442-6267G>T (n.442-6267G>T) | |
2 | g.233760768G>A | CA351066779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>A (n.856-6266G>A) c.868-6266G>A (n.868-6266G>A) c.862-6266G>A (n.862-6266G>A) c.481G>A (p.Ala161Thr) c.61-6266G>A (n.61-6266G>A) c.442-6266G>A (n.442-6266G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760768G>C | CA351066781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>C (n.856-6266G>C) c.868-6266G>C (n.868-6266G>C) c.862-6266G>C (n.862-6266G>C) c.481G>C (p.Ala161Pro) c.61-6266G>C (n.61-6266G>C) c.442-6266G>C (n.442-6266G>C) | |
2 | g.233760768G= | CA1335889431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G= (n.856-6266G=) c.868-6266G= (n.868-6266G=) c.862-6266G= (n.862-6266G=) c.481G= (p.Ala161=) c.61-6266G= (n.61-6266G=) c.442-6266G= (n.442-6266G=) | |
2 | g.233760768G>T | CA351066783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>T (n.856-6266G>T) c.868-6266G>T (n.868-6266G>T) c.862-6266G>T (n.862-6266G>T) c.481G>T (p.Ala161Ser) c.61-6266G>T (n.61-6266G>T) c.442-6266G>T (n.442-6266G>T) | dbSNP |
2 | g.233760769C>A | CA351066785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>A (n.856-6265C>A) c.868-6265C>A (n.868-6265C>A) c.862-6265C>A (n.862-6265C>A) c.482C>A (p.Ala161Asp) c.61-6265C>A (n.61-6265C>A) c.442-6265C>A (n.442-6265C>A) | gnomAD v4 |
2 | g.233760769C= | CA1335889433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C= (n.856-6265C=) c.868-6265C= (n.868-6265C=) c.862-6265C= (n.862-6265C=) c.482C= (p.Ala161=) c.61-6265C= (n.61-6265C=) c.442-6265C= (n.442-6265C=) | |
2 | g.233760769C>G | CA351066787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>G (n.856-6265C>G) c.868-6265C>G (n.868-6265C>G) c.862-6265C>G (n.862-6265C>G) c.482C>G (p.Ala161Gly) c.61-6265C>G (n.61-6265C>G) c.442-6265C>G (n.442-6265C>G) | |
2 | g.233760769C>T | CA2179831 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>T (n.856-6265C>T) c.868-6265C>T (n.868-6265C>T) c.862-6265C>T (n.862-6265C>T) c.482C>T (p.Ala161Val) c.61-6265C>T (n.61-6265C>T) c.442-6265C>T (n.442-6265C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760770C>A | CA431960456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>A (n.856-6264C>A) c.868-6264C>A (n.868-6264C>A) c.862-6264C>A (n.862-6264C>A) c.483C>A (p.Ala161=) c.61-6264C>A (n.61-6264C>A) c.442-6264C>A (n.442-6264C>A) | |
2 | g.233760770C>G | CA431960455 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>G (n.856-6264C>G) c.868-6264C>G (n.868-6264C>G) c.862-6264C>G (n.862-6264C>G) c.483C>G (p.Ala161=) c.61-6264C>G (n.61-6264C>G) c.442-6264C>G (n.442-6264C>G) | |
2 | g.233760770C>T | CA431960454 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>T (n.856-6264C>T) c.868-6264C>T (n.868-6264C>T) c.862-6264C>T (n.862-6264C>T) c.483C>T (p.Ala161=) c.61-6264C>T (n.61-6264C>T) c.442-6264C>T (n.442-6264C>T) | gnomAD v4 |
2 | g.233760771C>A | CA351066791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>A (n.856-6263C>A) c.868-6263C>A (n.868-6263C>A) c.862-6263C>A (n.862-6263C>A) c.484C>A (p.Gln162Lys) c.61-6263C>A (n.61-6263C>A) c.442-6263C>A (n.442-6263C>A) | |
2 | g.233760771C>G | CA351066793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>G (n.856-6263C>G) c.868-6263C>G (n.868-6263C>G) c.862-6263C>G (n.862-6263C>G) c.484C>G (p.Gln162Glu) c.61-6263C>G (n.61-6263C>G) c.442-6263C>G (n.442-6263C>G) | |
2 | g.233760771C>T | CA351066795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>T (n.856-6263C>T) c.868-6263C>T (n.868-6263C>T) c.862-6263C>T (n.862-6263C>T) c.484C>T (p.Gln162Ter) c.61-6263C>T (n.61-6263C>T) c.442-6263C>T (n.442-6263C>T) | |
2 | g.233760772A>C | CA351066800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>C (n.856-6262A>C) c.868-6262A>C (n.868-6262A>C) c.862-6262A>C (n.862-6262A>C) c.485A>C (p.Gln162Pro) c.61-6262A>C (n.61-6262A>C) c.442-6262A>C (n.442-6262A>C) | gnomAD v4 |
2 | g.233760772A>G | CA351066798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>G (n.856-6262A>G) c.868-6262A>G (n.868-6262A>G) c.862-6262A>G (n.862-6262A>G) c.485A>G (p.Gln162Arg) c.61-6262A>G (n.61-6262A>G) c.442-6262A>G (n.442-6262A>G) | |
2 | g.233760772A>T | CA351066797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>T (n.856-6262A>T) c.868-6262A>T (n.868-6262A>T) c.862-6262A>T (n.862-6262A>T) c.485A>T (p.Gln162Leu) c.61-6262A>T (n.61-6262A>T) c.442-6262A>T (n.442-6262A>T) | |
2 | g.233760773G>A | CA431960457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>A (n.856-6261G>A) c.868-6261G>A (n.868-6261G>A) c.862-6261G>A (n.862-6261G>A) c.486G>A (p.Gln162=) c.61-6261G>A (n.61-6261G>A) c.442-6261G>A (n.442-6261G>A) | gnomAD v4 |
2 | g.233760773G>C | CA2179832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>C (n.856-6261G>C) c.868-6261G>C (n.868-6261G>C) c.862-6261G>C (n.862-6261G>C) c.486G>C (p.Gln162His) c.61-6261G>C (n.61-6261G>C) c.442-6261G>C (n.442-6261G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760773G= | CA1335889453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G= (n.856-6261G=) c.868-6261G= (n.868-6261G=) c.862-6261G= (n.862-6261G=) c.486G= (p.Gln162=) c.61-6261G= (n.61-6261G=) c.442-6261G= (n.442-6261G=) | |
2 | g.233760773G>T | CA351066803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>T (n.856-6261G>T) c.868-6261G>T (n.868-6261G>T) c.862-6261G>T (n.862-6261G>T) c.486G>T (p.Gln162His) c.61-6261G>T (n.61-6261G>T) c.442-6261G>T (n.442-6261G>T) | |
2 | g.233760774T>A | CA351066805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>A (n.856-6260T>A) c.868-6260T>A (n.868-6260T>A) c.862-6260T>A (n.862-6260T>A) c.487T>A (p.Tyr163Asn) c.61-6260T>A (n.61-6260T>A) c.442-6260T>A (n.442-6260T>A) | |
2 | g.233760774T>C | CA351066810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>C (n.856-6260T>C) c.868-6260T>C (n.868-6260T>C) c.862-6260T>C (n.862-6260T>C) c.487T>C (p.Tyr163His) c.61-6260T>C (n.61-6260T>C) c.442-6260T>C (n.442-6260T>C) | gnomAD v4 |
2 | g.233760774T>G | CA351066811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>G (n.856-6260T>G) c.868-6260T>G (n.868-6260T>G) c.862-6260T>G (n.862-6260T>G) c.487T>G (p.Tyr163Asp) c.61-6260T>G (n.61-6260T>G) c.442-6260T>G (n.442-6260T>G) | |
2 | g.233760775_233760778dup | CA2586965607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259_856-6256dup (n.856-6259_856-6256dup) c.868-6259_868-6256dup (n.868-6259_868-6256dup) c.862-6259_862-6256dup (n.862-6259_862-6256dup) c.488_491dup (p.Ser165ProfsTer19) c.61-6259_61-6256dup (n.61-6259_61-6256dup) c.442-6259_442-6256dup (n.442-6259_442-6256dup) | |
2 | g.233760775A>C | CA351066814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>C (n.856-6259A>C) c.868-6259A>C (n.868-6259A>C) c.862-6259A>C (n.862-6259A>C) c.488A>C (p.Tyr163Ser) c.61-6259A>C (n.61-6259A>C) c.442-6259A>C (n.442-6259A>C) | |
2 | g.233760775A>G | CA351066816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>G (n.856-6259A>G) c.868-6259A>G (n.868-6259A>G) c.862-6259A>G (n.862-6259A>G) c.488A>G (p.Tyr163Cys) c.61-6259A>G (n.61-6259A>G) c.442-6259A>G (n.442-6259A>G) | gnomAD v4 |
2 | g.233760775A>T | CA351066818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>T (n.856-6259A>T) c.868-6259A>T (n.868-6259A>T) c.862-6259A>T (n.862-6259A>T) c.488A>T (p.Tyr163Phe) c.61-6259A>T (n.61-6259A>T) c.442-6259A>T (n.442-6259A>T) | |
2 | g.233760776C>A | CA351066820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>A (n.856-6258C>A) c.868-6258C>A (n.868-6258C>A) c.862-6258C>A (n.862-6258C>A) c.489C>A (p.Tyr163Ter) c.61-6258C>A (n.61-6258C>A) c.442-6258C>A (n.442-6258C>A) | |
2 | g.233760776C>G | CA351066822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>G (n.856-6258C>G) c.868-6258C>G (n.868-6258C>G) c.862-6258C>G (n.862-6258C>G) c.489C>G (p.Tyr163Ter) c.61-6258C>G (n.61-6258C>G) c.442-6258C>G (n.442-6258C>G) | gnomAD v4 |
2 | g.233760776C>T | CA431960458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>T (n.856-6258C>T) c.868-6258C>T (n.868-6258C>T) c.862-6258C>T (n.862-6258C>T) c.489C>T (p.Tyr163=) c.61-6258C>T (n.61-6258C>T) c.442-6258C>T (n.442-6258C>T) | gnomAD v4 |
2 | g.233760777C>A | CA351066824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>A (n.856-6257C>A) c.868-6257C>A (n.868-6257C>A) c.862-6257C>A (n.862-6257C>A) c.490C>A (p.Leu164Met) c.61-6257C>A (n.61-6257C>A) c.442-6257C>A (n.442-6257C>A) | |
2 | g.233760777C>G | CA351066826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>G (n.856-6257C>G) c.868-6257C>G (n.868-6257C>G) c.862-6257C>G (n.862-6257C>G) c.490C>G (p.Leu164Val) c.61-6257C>G (n.61-6257C>G) c.442-6257C>G (n.442-6257C>G) | |
2 | g.233760777C>T | CA431960459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>T (n.856-6257C>T) c.868-6257C>T (n.868-6257C>T) c.862-6257C>T (n.862-6257C>T) c.490C>T (p.Leu164=) c.61-6257C>T (n.61-6257C>T) c.442-6257C>T (n.442-6257C>T) | |
2 | g.233760778T>A | CA351066827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>A (n.856-6256T>A) c.868-6256T>A (n.868-6256T>A) c.862-6256T>A (n.862-6256T>A) c.491T>A (p.Leu164Gln) c.61-6256T>A (n.61-6256T>A) c.442-6256T>A (n.442-6256T>A) | |
2 | g.233760778T>C | CA351066829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>C (n.856-6256T>C) c.868-6256T>C (n.868-6256T>C) c.862-6256T>C (n.862-6256T>C) c.491T>C (p.Leu164Pro) c.61-6256T>C (n.61-6256T>C) c.442-6256T>C (n.442-6256T>C) | |
2 | g.233760778T>G | CA351066831 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>G (n.856-6256T>G) c.868-6256T>G (n.868-6256T>G) c.862-6256T>G (n.862-6256T>G) c.491T>G (p.Leu164Arg) c.61-6256T>G (n.61-6256T>G) c.442-6256T>G (n.442-6256T>G) | |
2 | g.233760779_233760780del | CA2573135611 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255_856-6254del (n.856-6255_856-6254del) c.868-6255_868-6254del (n.868-6255_868-6254del) c.862-6255_862-6254del (n.862-6255_862-6254del) c.492_493del (p.Leu166AlafsTer16) c.61-6255_61-6254del (n.61-6255_61-6254del) c.442-6255_442-6254del (n.442-6255_442-6254del) | ClinVar dbSNP |
2 | g.233760779G>A | CA431960462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>A (n.856-6255G>A) c.868-6255G>A (n.868-6255G>A) c.862-6255G>A (n.862-6255G>A) c.492G>A (p.Leu164=) c.61-6255G>A (n.61-6255G>A) c.442-6255G>A (n.442-6255G>A) | |
2 | g.233760779G>C | CA431960460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>C (n.856-6255G>C) c.868-6255G>C (n.868-6255G>C) c.862-6255G>C (n.862-6255G>C) c.492G>C (p.Leu164=) c.61-6255G>C (n.61-6255G>C) c.442-6255G>C (n.442-6255G>C) | |
2 | g.233760779G>T | CA431960461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>T (n.856-6255G>T) c.868-6255G>T (n.868-6255G>T) c.862-6255G>T (n.862-6255G>T) c.492G>T (p.Leu164=) c.61-6255G>T (n.61-6255G>T) c.442-6255G>T (n.442-6255G>T) | |
2 | g.233760780T>A | CA351066836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>A (n.856-6254T>A) c.868-6254T>A (n.868-6254T>A) c.862-6254T>A (n.862-6254T>A) c.493T>A (p.Ser165Thr) c.61-6254T>A (n.61-6254T>A) c.442-6254T>A (n.442-6254T>A) | |
2 | g.233760780T>C | CA351066833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>C (n.856-6254T>C) c.868-6254T>C (n.868-6254T>C) c.862-6254T>C (n.862-6254T>C) c.493T>C (p.Ser165Pro) c.61-6254T>C (n.61-6254T>C) c.442-6254T>C (n.442-6254T>C) | |
2 | g.233760780T>G | CA351066834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>G (n.856-6254T>G) c.868-6254T>G (n.868-6254T>G) c.862-6254T>G (n.862-6254T>G) c.493T>G (p.Ser165Ala) c.61-6254T>G (n.61-6254T>G) c.442-6254T>G (n.442-6254T>G) | |
2 | g.233760781C>A | CA351066838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>A (n.856-6253C>A) c.868-6253C>A (n.868-6253C>A) c.862-6253C>A (n.862-6253C>A) c.494C>A (p.Ser165Tyr) c.61-6253C>A (n.61-6253C>A) c.442-6253C>A (n.442-6253C>A) | |
2 | g.233760781C>G | CA351066840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>G (n.856-6253C>G) c.868-6253C>G (n.868-6253C>G) c.862-6253C>G (n.862-6253C>G) c.494C>G (p.Ser165Cys) c.61-6253C>G (n.61-6253C>G) c.442-6253C>G (n.442-6253C>G) | |
2 | g.233760781C>T | CA351066842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>T (n.856-6253C>T) c.868-6253C>T (n.868-6253C>T) c.862-6253C>T (n.862-6253C>T) c.494C>T (p.Ser165Phe) c.61-6253C>T (n.61-6253C>T) c.442-6253C>T (n.442-6253C>T) | |
2 | g.233760782T>A | CA431960465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>A (n.856-6252T>A) c.868-6252T>A (n.868-6252T>A) c.862-6252T>A (n.862-6252T>A) c.495T>A (p.Ser165=) c.61-6252T>A (n.61-6252T>A) c.442-6252T>A (n.442-6252T>A) | |
2 | g.233760782T>C | CA431960464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>C (n.856-6252T>C) c.868-6252T>C (n.868-6252T>C) c.862-6252T>C (n.862-6252T>C) c.495T>C (p.Ser165=) c.61-6252T>C (n.61-6252T>C) c.442-6252T>C (n.442-6252T>C) | |
2 | g.233760782T>G | CA431960463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>G (n.856-6252T>G) c.868-6252T>G (n.868-6252T>G) c.862-6252T>G (n.862-6252T>G) c.495T>G (p.Ser165=) c.61-6252T>G (n.61-6252T>G) c.442-6252T>G (n.442-6252T>G) | |
2 | g.233760783C>A | CA351066844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>A (n.856-6251C>A) c.868-6251C>A (n.868-6251C>A) c.862-6251C>A (n.862-6251C>A) c.496C>A (p.Leu166Met) c.61-6251C>A (n.61-6251C>A) c.442-6251C>A (n.442-6251C>A) | |
2 | g.233760783C>G | CA351066846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>G (n.856-6251C>G) c.868-6251C>G (n.868-6251C>G) c.862-6251C>G (n.862-6251C>G) c.496C>G (p.Leu166Val) c.61-6251C>G (n.61-6251C>G) c.442-6251C>G (n.442-6251C>G) | COSMIC COSMIC |
2 | g.233760783C>T | CA431960466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>T (n.856-6251C>T) c.868-6251C>T (n.868-6251C>T) c.862-6251C>T (n.862-6251C>T) c.496C>T (p.Leu166=) c.61-6251C>T (n.61-6251C>T) c.442-6251C>T (n.442-6251C>T) | gnomAD v4 |
2 | g.233760784T>A | CA351066849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>A (n.856-6250T>A) c.868-6250T>A (n.868-6250T>A) c.862-6250T>A (n.862-6250T>A) c.497T>A (p.Leu166Gln) c.61-6250T>A (n.61-6250T>A) c.442-6250T>A (n.442-6250T>A) | |
2 | g.233760784T>C | CA351066851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>C (n.856-6250T>C) c.868-6250T>C (n.868-6250T>C) c.862-6250T>C (n.862-6250T>C) c.497T>C (p.Leu166Pro) c.61-6250T>C (n.61-6250T>C) c.442-6250T>C (n.442-6250T>C) | |
2 | g.233760784T>G | CA2179833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>G (n.856-6250T>G) c.868-6250T>G (n.868-6250T>G) c.862-6250T>G (n.862-6250T>G) c.497T>G (p.Leu166Arg) c.61-6250T>G (n.61-6250T>G) c.442-6250T>G (n.442-6250T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760784T= | CA1335889456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T= (n.856-6250T=) c.868-6250T= (n.868-6250T=) c.862-6250T= (n.862-6250T=) c.497T= (p.Leu166=) c.61-6250T= (n.61-6250T=) c.442-6250T= (n.442-6250T=) | |
2 | g.233760785G>A | CA431960468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>A (n.856-6249G>A) c.868-6249G>A (n.868-6249G>A) c.862-6249G>A (n.862-6249G>A) c.498G>A (p.Leu166=) c.61-6249G>A (n.61-6249G>A) c.442-6249G>A (n.442-6249G>A) | gnomAD v4 |
2 | g.233760785G>C | CA431960467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>C (n.856-6249G>C) c.868-6249G>C (n.868-6249G>C) c.862-6249G>C (n.862-6249G>C) c.498G>C (p.Leu166=) c.61-6249G>C (n.61-6249G>C) c.442-6249G>C (n.442-6249G>C) | |
2 | g.233760785G>T | CA431960469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>T (n.856-6249G>T) c.868-6249G>T (n.868-6249G>T) c.862-6249G>T (n.862-6249G>T) c.498G>T (p.Leu166=) c.61-6249G>T (n.61-6249G>T) c.442-6249G>T (n.442-6249G>T) | |
2 | g.233760786C>A | CA351066855 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>A (n.856-6248C>A) c.868-6248C>A (n.868-6248C>A) c.862-6248C>A (n.862-6248C>A) c.499C>A (p.Pro167Thr) c.61-6248C>A (n.61-6248C>A) c.442-6248C>A (n.442-6248C>A) | |
2 | g.233760786C>G | CA351066856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>G (n.856-6248C>G) c.868-6248C>G (n.868-6248C>G) c.862-6248C>G (n.862-6248C>G) c.499C>G (p.Pro167Ala) c.61-6248C>G (n.61-6248C>G) c.442-6248C>G (n.442-6248C>G) | |
2 | g.233760786C>T | CA351066858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>T (n.856-6248C>T) c.868-6248C>T (n.868-6248C>T) c.862-6248C>T (n.862-6248C>T) c.499C>T (p.Pro167Ser) c.61-6248C>T (n.61-6248C>T) c.442-6248C>T (n.442-6248C>T) | |
2 | g.233760787C>A | CA351066863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>A (n.856-6247C>A) c.868-6247C>A (n.868-6247C>A) c.862-6247C>A (n.862-6247C>A) c.500C>A (p.Pro167His) c.61-6247C>A (n.61-6247C>A) c.442-6247C>A (n.442-6247C>A) | |
2 | g.233760787C>G | CA351066861 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>G (n.856-6247C>G) c.868-6247C>G (n.868-6247C>G) c.862-6247C>G (n.862-6247C>G) c.500C>G (p.Pro167Arg) c.61-6247C>G (n.61-6247C>G) c.442-6247C>G (n.442-6247C>G) | |
2 | g.233760787C>T | CA351066860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>T (n.856-6247C>T) c.868-6247C>T (n.868-6247C>T) c.862-6247C>T (n.862-6247C>T) c.500C>T (p.Pro167Leu) c.61-6247C>T (n.61-6247C>T) c.442-6247C>T (n.442-6247C>T) | COSMIC COSMIC |
2 | g.233760788C>A | CA431960471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>A (n.856-6246C>A) c.868-6246C>A (n.868-6246C>A) c.862-6246C>A (n.862-6246C>A) c.501C>A (p.Pro167=) c.61-6246C>A (n.61-6246C>A) c.442-6246C>A (n.442-6246C>A) | |
2 | g.233760788C>G | CA431960470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>G (n.856-6246C>G) c.868-6246C>G (n.868-6246C>G) c.862-6246C>G (n.862-6246C>G) c.501C>G (p.Pro167=) c.61-6246C>G (n.61-6246C>G) c.442-6246C>G (n.442-6246C>G) | |
2 | g.233760788C>T | CA431960472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>T (n.856-6246C>T) c.868-6246C>T (n.868-6246C>T) c.862-6246C>T (n.862-6246C>T) c.501C>T (p.Pro167=) c.61-6246C>T (n.61-6246C>T) c.442-6246C>T (n.442-6246C>T) | |
2 | g.233760789A= | CA1335889458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A= (n.856-6245A=) c.868-6245A= (n.868-6245A=) c.862-6245A= (n.862-6245A=) c.502A= (p.Thr168=) c.61-6245A= (n.61-6245A=) c.442-6245A= (n.442-6245A=) | |
2 | g.233760789A>C | CA351066865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>C (n.856-6245A>C) c.868-6245A>C (n.868-6245A>C) c.862-6245A>C (n.862-6245A>C) c.502A>C (p.Thr168Pro) c.61-6245A>C (n.61-6245A>C) c.442-6245A>C (n.442-6245A>C) | |
2 | g.233760789A>G | CA2179834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>G (n.856-6245A>G) c.868-6245A>G (n.868-6245A>G) c.862-6245A>G (n.862-6245A>G) c.502A>G (p.Thr168Ala) c.61-6245A>G (n.61-6245A>G) c.442-6245A>G (n.442-6245A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760789A>T | CA351066867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>T (n.856-6245A>T) c.868-6245A>T (n.868-6245A>T) c.862-6245A>T (n.862-6245A>T) c.502A>T (p.Thr168Ser) c.61-6245A>T (n.61-6245A>T) c.442-6245A>T (n.442-6245A>T) | |
2 | g.233760790C>A | CA351066870 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>A (n.856-6244C>A) c.868-6244C>A (n.868-6244C>A) c.862-6244C>A (n.862-6244C>A) c.503C>A (p.Thr168Asn) c.61-6244C>A (n.61-6244C>A) c.442-6244C>A (n.442-6244C>A) | |
2 | g.233760790C>G | CA351066872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>G (n.856-6244C>G) c.868-6244C>G (n.868-6244C>G) c.862-6244C>G (n.862-6244C>G) c.503C>G (p.Thr168Ser) c.61-6244C>G (n.61-6244C>G) c.442-6244C>G (n.442-6244C>G) | |
2 | g.233760790C>T | CA351066874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>T (n.856-6244C>T) c.868-6244C>T (n.868-6244C>T) c.862-6244C>T (n.862-6244C>T) c.503C>T (p.Thr168Ile) c.61-6244C>T (n.61-6244C>T) c.442-6244C>T (n.442-6244C>T) | |
2 | g.233760791T>A | CA431960475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>A (n.856-6243T>A) c.868-6243T>A (n.868-6243T>A) c.862-6243T>A (n.862-6243T>A) c.504T>A (p.Thr168=) c.61-6243T>A (n.61-6243T>A) c.442-6243T>A (n.442-6243T>A) | |
2 | g.233760791T>C | CA431960474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>C (n.856-6243T>C) c.868-6243T>C (n.868-6243T>C) c.862-6243T>C (n.862-6243T>C) c.504T>C (p.Thr168=) c.61-6243T>C (n.61-6243T>C) c.442-6243T>C (n.442-6243T>C) | |
2 | g.233760791T>G | CA431960473 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>G (n.856-6243T>G) c.868-6243T>G (n.868-6243T>G) c.862-6243T>G (n.862-6243T>G) c.504T>G (p.Thr168=) c.61-6243T>G (n.61-6243T>G) c.442-6243T>G (n.442-6243T>G) | |
2 | g.233760792G>A | CA351066876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>A (n.856-6242G>A) c.868-6242G>A (n.868-6242G>A) c.862-6242G>A (n.862-6242G>A) c.505G>A (p.Val169Ile) c.61-6242G>A (n.61-6242G>A) c.442-6242G>A (n.442-6242G>A) | dbSNP gnomAD v4 |
2 | g.233760792G>C | CA351066878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>C (n.856-6242G>C) c.868-6242G>C (n.868-6242G>C) c.862-6242G>C (n.862-6242G>C) c.505G>C (p.Val169Leu) c.61-6242G>C (n.61-6242G>C) c.442-6242G>C (n.442-6242G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760792G= | CA1335889463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G= (n.856-6242G=) c.868-6242G= (n.868-6242G=) c.862-6242G= (n.862-6242G=) c.505G= (p.Val169=) c.61-6242G= (n.61-6242G=) c.442-6242G= (n.442-6242G=) | |
2 | g.233760792G>T | CA351066879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>T (n.856-6242G>T) c.868-6242G>T (n.868-6242G>T) c.862-6242G>T (n.862-6242G>T) c.505G>T (p.Val169Leu) c.61-6242G>T (n.61-6242G>T) c.442-6242G>T (n.442-6242G>T) | COSMIC |
2 | g.233760793T>A | CA351066881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>A (n.856-6241T>A) c.868-6241T>A (n.868-6241T>A) c.862-6241T>A (n.862-6241T>A) c.506T>A (p.Val169Glu) c.61-6241T>A (n.61-6241T>A) c.442-6241T>A (n.442-6241T>A) | ClinVar |
2 | g.233760793T>C | CA351066883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>C (n.856-6241T>C) c.868-6241T>C (n.868-6241T>C) c.862-6241T>C (n.862-6241T>C) c.506T>C (p.Val169Ala) c.61-6241T>C (n.61-6241T>C) c.442-6241T>C (n.442-6241T>C) | |
2 | g.233760793T>G | CA351066885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>G (n.856-6241T>G) c.868-6241T>G (n.868-6241T>G) c.862-6241T>G (n.862-6241T>G) c.506T>G (p.Val169Gly) c.61-6241T>G (n.61-6241T>G) c.442-6241T>G (n.442-6241T>G) | |
2 | g.233760794A>C | CA431960477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>C (n.856-6240A>C) c.868-6240A>C (n.868-6240A>C) c.862-6240A>C (n.862-6240A>C) c.507A>C (p.Val169=) c.61-6240A>C (n.61-6240A>C) c.442-6240A>C (n.442-6240A>C) | |
2 | g.233760794A>G | CA431960478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>G (n.856-6240A>G) c.868-6240A>G (n.868-6240A>G) c.862-6240A>G (n.862-6240A>G) c.507A>G (p.Val169=) c.61-6240A>G (n.61-6240A>G) c.442-6240A>G (n.442-6240A>G) | |
2 | g.233760794A>T | CA431960476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>T (n.856-6240A>T) c.868-6240A>T (n.868-6240A>T) c.862-6240A>T (n.862-6240A>T) c.507A>T (p.Val169=) c.61-6240A>T (n.61-6240A>T) c.442-6240A>T (n.442-6240A>T) | |
2 | g.233760794_233760797delinsATTC | CA1335889467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240_856-6237delinsATTC (n.856-6240_856-6237delinsATTC) c.868-6240_868-6237delinsATTC (n.868-6240_868-6237delinsATTC) c.862-6240_862-6237delinsATTC (n.862-6240_862-6237delinsATTC) c.507_510delinsATTC (p.Val169=) c.61-6240_61-6237delinsATTC (n.61-6240_61-6237delinsATTC) c.442-6240_442-6237delinsATTC (n.442-6240_442-6237delinsATTC) | |
2 | g.233760795T>A | CA351066892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>A (n.856-6239T>A) c.868-6239T>A (n.868-6239T>A) c.862-6239T>A (n.862-6239T>A) c.508T>A (p.Phe170Ile) c.61-6239T>A (n.61-6239T>A) c.442-6239T>A (n.442-6239T>A) | |
2 | g.233760795T>C | CA67590060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>C (n.856-6239T>C) c.868-6239T>C (n.868-6239T>C) c.862-6239T>C (n.862-6239T>C) c.508T>C (p.Phe170Leu) c.61-6239T>C (n.61-6239T>C) c.442-6239T>C (n.442-6239T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760795T>G | CA351066890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>G (n.856-6239T>G) c.868-6239T>G (n.868-6239T>G) c.862-6239T>G (n.862-6239T>G) c.508T>G (p.Phe170Val) c.61-6239T>G (n.61-6239T>G) c.442-6239T>G (n.442-6239T>G) | |
2 | g.233760795T= | CA1335889474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T= (n.856-6239T=) c.868-6239T= (n.868-6239T=) c.862-6239T= (n.862-6239T=) c.508T= (p.Phe170=) c.61-6239T= (n.61-6239T=) c.442-6239T= (n.442-6239T=) | |
2 | g.233760800_233760802del | CA122051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234_856-6232del (n.856-6234_856-6232del) c.868-6234_868-6232del (n.868-6234_868-6232del) c.862-6234_862-6232del (n.862-6234_862-6232del) c.513_515del (p.Phe171del) c.61-6234_61-6232del (n.61-6234_61-6232del) c.442-6234_442-6232del (n.442-6234_442-6232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760796T>A | CA351066895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>A (n.856-6238T>A) c.868-6238T>A (n.868-6238T>A) c.862-6238T>A (n.862-6238T>A) c.509T>A (p.Phe170Tyr) c.61-6238T>A (n.61-6238T>A) c.442-6238T>A (n.442-6238T>A) | |
2 | g.233760796T>C | CA351066897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>C (n.856-6238T>C) c.868-6238T>C (n.868-6238T>C) c.862-6238T>C (n.862-6238T>C) c.509T>C (p.Phe170Ser) c.61-6238T>C (n.61-6238T>C) c.442-6238T>C (n.442-6238T>C) | |
2 | g.233760796T>G | CA351066900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>G (n.856-6238T>G) c.868-6238T>G (n.868-6238T>G) c.862-6238T>G (n.862-6238T>G) c.509T>G (p.Phe170Cys) c.61-6238T>G (n.61-6238T>G) c.442-6238T>G (n.442-6238T>G) | |
2 | g.233760797C>A | CA2179835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6237C>A (n.856-6237C>A) c.868-6237C>A (n.868-6237C>A) c.862-6237C>A (n.862-6237C>A) c.510C>A (p.Phe170Leu) c.61-6237C>A (n.61-6237C>A) c.442-6237C>A (n.442-6237C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760797C= | CA1335889476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6237C= (n.856-6237C=) c.868-6237C= (n.868-6237C=) c.862-6237C= (n.862-6237C=) c.510C= (p.Phe170=) c.61-6237C= (n.61-6237C=) c.442-6237C= (n.442-6237C=) | |
2 | g.233760797C>G | CA351066902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6237C>G (n.856-6237C>G) c.868-6237C>G (n.868-6237C>G) c.862-6237C>G (n.862-6237C>G) c.510C>G (p.Phe170Leu) c.61-6237C>G (n.61-6237C>G) c.442-6237C>G (n.442-6237C>G) | |
2 | g.233760797C>T | CA431960479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6237C>T (n.856-6237C>T) c.868-6237C>T (n.868-6237C>T) c.862-6237C>T (n.862-6237C>T) c.510C>T (p.Phe170=) c.61-6237C>T (n.61-6237C>T) c.442-6237C>T (n.442-6237C>T) | gnomAD v4 |
2 | g.233760798T>A | CA351066903 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6236T>A (n.856-6236T>A) c.868-6236T>A (n.868-6236T>A) c.862-6236T>A (n.862-6236T>A) c.511T>A (p.Phe171Ile) c.61-6236T>A (n.61-6236T>A) c.442-6236T>A (n.442-6236T>A) | |
2 | g.233760798T>C | CA351066904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6236T>C (n.856-6236T>C) c.868-6236T>C (n.868-6236T>C) c.862-6236T>C (n.862-6236T>C) c.511T>C (p.Phe171Leu) c.61-6236T>C (n.61-6236T>C) c.442-6236T>C (n.442-6236T>C) | |
2 | g.233760798T>G | CA351066905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6236T>G (n.856-6236T>G) c.868-6236T>G (n.868-6236T>G) c.862-6236T>G (n.862-6236T>G) c.511T>G (p.Phe171Val) c.61-6236T>G (n.61-6236T>G) c.442-6236T>G (n.442-6236T>G) | |
2 | g.233760799T>A | CA351066907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6235T>A (n.856-6235T>A) c.868-6235T>A (n.868-6235T>A) c.862-6235T>A (n.862-6235T>A) c.512T>A (p.Phe171Tyr) c.61-6235T>A (n.61-6235T>A) c.442-6235T>A (n.442-6235T>A) | |
2 | g.233760799T>C | CA351066909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6235T>C (n.856-6235T>C) c.868-6235T>C (n.868-6235T>C) c.862-6235T>C (n.862-6235T>C) c.512T>C (p.Phe171Ser) c.61-6235T>C (n.61-6235T>C) c.442-6235T>C (n.442-6235T>C) | |
2 | g.233760799T>G | CA351066910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6235T>G (n.856-6235T>G) c.868-6235T>G (n.868-6235T>G) c.862-6235T>G (n.862-6235T>G) c.512T>G (p.Phe171Cys) c.61-6235T>G (n.61-6235T>G) c.442-6235T>G (n.442-6235T>G) | |
2 | g.233760800C>A | CA351066914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234C>A (n.856-6234C>A) c.868-6234C>A (n.868-6234C>A) c.862-6234C>A (n.862-6234C>A) c.513C>A (p.Phe171Leu) c.61-6234C>A (n.61-6234C>A) c.442-6234C>A (n.442-6234C>A) | |
2 | g.233760800C>G | CA351066912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234C>G (n.856-6234C>G) c.868-6234C>G (n.868-6234C>G) c.862-6234C>G (n.862-6234C>G) c.513C>G (p.Phe171Leu) c.61-6234C>G (n.61-6234C>G) c.442-6234C>G (n.442-6234C>G) | |
2 | g.233760800C>T | CA431960480 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234C>T (n.856-6234C>T) c.868-6234C>T (n.868-6234C>T) c.862-6234C>T (n.862-6234C>T) c.513C>T (p.Phe171=) c.61-6234C>T (n.61-6234C>T) c.442-6234C>T (n.442-6234C>T) | COSMIC COSMIC |
2 | g.233760800_233760802delinsTTC | CA67590075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234_856-6232delinsTTC (n.856-6234_856-6232delinsTTC) c.868-6234_868-6232delinsTTC (n.868-6234_868-6232delinsTTC) c.862-6234_862-6232delinsTTC (n.862-6234_862-6232delinsTTC) c.513_515delinsTTC (p.Leu172Ser) c.61-6234_61-6232delinsTTC (n.61-6234_61-6232delinsTTC) c.442-6234_442-6232delinsTTC (n.442-6234_442-6232delinsTTC) | |
2 | g.233760801T>A | CA351066916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6233T>A (n.856-6233T>A) c.868-6233T>A (n.868-6233T>A) c.862-6233T>A (n.862-6233T>A) c.514T>A (p.Leu172Met) c.61-6233T>A (n.61-6233T>A) c.442-6233T>A (n.442-6233T>A) | |
2 | g.233760801T>C | CA431960481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6233T>C (n.856-6233T>C) c.868-6233T>C (n.868-6233T>C) c.862-6233T>C (n.862-6233T>C) c.514T>C (p.Leu172=) c.61-6233T>C (n.61-6233T>C) c.442-6233T>C (n.442-6233T>C) | |
2 | g.233760801T>G | CA351066917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6233T>G (n.856-6233T>G) c.868-6233T>G (n.868-6233T>G) c.862-6233T>G (n.862-6233T>G) c.514T>G (p.Leu172Val) c.61-6233T>G (n.61-6233T>G) c.442-6233T>G (n.442-6233T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760801T= | CA1335889478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6233T= (n.856-6233T=) c.868-6233T= (n.868-6233T=) c.862-6233T= (n.862-6233T=) c.514T= (p.Leu172=) c.61-6233T= (n.61-6233T=) c.442-6233T= (n.442-6233T=) | |
2 | g.233760802T>A | CA351066919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6232T>A (n.856-6232T>A) c.868-6232T>A (n.868-6232T>A) c.862-6232T>A (n.862-6232T>A) c.515T>A (p.Leu172Ter) c.61-6232T>A (n.61-6232T>A) c.442-6232T>A (n.442-6232T>A) | |
2 | g.233760802T>C | CA351066923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6232T>C (n.856-6232T>C) c.868-6232T>C (n.868-6232T>C) c.862-6232T>C (n.862-6232T>C) c.515T>C (p.Leu172Ser) c.61-6232T>C (n.61-6232T>C) c.442-6232T>C (n.442-6232T>C) | |
2 | g.233760802T>G | CA351066921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6232T>G (n.856-6232T>G) c.868-6232T>G (n.868-6232T>G) c.862-6232T>G (n.862-6232T>G) c.515T>G (p.Leu172Trp) c.61-6232T>G (n.61-6232T>G) c.442-6232T>G (n.442-6232T>G) | |
2 | g.233760803G>A | CA431960482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6231G>A (n.856-6231G>A) c.868-6231G>A (n.868-6231G>A) c.862-6231G>A (n.862-6231G>A) c.516G>A (p.Leu172=) c.61-6231G>A (n.61-6231G>A) c.442-6231G>A (n.442-6231G>A) | |
2 | g.233760803G>C | CA351066925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6231G>C (n.856-6231G>C) c.868-6231G>C (n.868-6231G>C) c.862-6231G>C (n.862-6231G>C) c.516G>C (p.Leu172Phe) c.61-6231G>C (n.61-6231G>C) c.442-6231G>C (n.442-6231G>C) | |
2 | g.233760803G= | CA1335889483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6231G= (n.856-6231G=) c.868-6231G= (n.868-6231G=) c.862-6231G= (n.862-6231G=) c.516G= (p.Leu172=) c.61-6231G= (n.61-6231G=) c.442-6231G= (n.442-6231G=) | |
2 | g.233760803G>T | CA2179837 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6231G>T (n.856-6231G>T) c.868-6231G>T (n.868-6231G>T) c.862-6231G>T (n.862-6231G>T) c.516G>T (p.Leu172Phe) c.61-6231G>T (n.61-6231G>T) c.442-6231G>T (n.442-6231G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760803_233760804delinsGC | CA1335889485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6231_856-6230delinsGC (n.856-6231_856-6230delinsGC) c.868-6231_868-6230delinsGC (n.868-6231_868-6230delinsGC) c.862-6231_862-6230delinsGC (n.862-6231_862-6230delinsGC) c.516_517delinsGC (p.Leu172=) c.61-6231_61-6230delinsGC (n.61-6231_61-6230delinsGC) c.442-6231_442-6230delinsGC (n.442-6231_442-6230delinsGC) | |
2 | g.233760804del | CA2179836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6230del (n.856-6230del) c.868-6230del (n.868-6230del) c.862-6230del (n.862-6230del) c.517del (p.His173MetfsTer?) c.61-6230del (n.61-6230del) c.442-6230del (n.442-6230del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760804C>A | CA351066929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6230C>A (n.856-6230C>A) c.868-6230C>A (n.868-6230C>A) c.862-6230C>A (n.862-6230C>A) c.517C>A (p.His173Asn) c.61-6230C>A (n.61-6230C>A) c.442-6230C>A (n.442-6230C>A) | |
2 | g.233760804C>G | CA351066931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6230C>G (n.856-6230C>G) c.868-6230C>G (n.868-6230C>G) c.862-6230C>G (n.862-6230C>G) c.517C>G (p.His173Asp) c.61-6230C>G (n.61-6230C>G) c.442-6230C>G (n.442-6230C>G) | |
2 | g.233760804C>T | CA351066933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6230C>T (n.856-6230C>T) c.868-6230C>T (n.868-6230C>T) c.862-6230C>T (n.862-6230C>T) c.517C>T (p.His173Tyr) c.61-6230C>T (n.61-6230C>T) c.442-6230C>T (n.442-6230C>T) | |
2 | g.233760805A= | CA1335889491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6229A= (n.856-6229A=) c.868-6229A= (n.868-6229A=) c.862-6229A= (n.862-6229A=) c.518A= (p.His173=) c.61-6229A= (n.61-6229A=) c.442-6229A= (n.442-6229A=) | |
2 | g.233760805A>C | CA351066935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6229A>C (n.856-6229A>C) c.868-6229A>C (n.868-6229A>C) c.862-6229A>C (n.862-6229A>C) c.518A>C (p.His173Pro) c.61-6229A>C (n.61-6229A>C) c.442-6229A>C (n.442-6229A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760805A>G | CA351066937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6229A>G (n.856-6229A>G) c.868-6229A>G (n.868-6229A>G) c.862-6229A>G (n.862-6229A>G) c.518A>G (p.His173Arg) c.61-6229A>G (n.61-6229A>G) c.442-6229A>G (n.442-6229A>G) | |
2 | g.233760805A>T | CA351066939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6229A>T (n.856-6229A>T) c.868-6229A>T (n.868-6229A>T) c.862-6229A>T (n.862-6229A>T) c.518A>T (p.His173Leu) c.61-6229A>T (n.61-6229A>T) c.442-6229A>T (n.442-6229A>T) | |
2 | g.233760806T>A | CA351066941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6228T>A (n.856-6228T>A) c.868-6228T>A (n.868-6228T>A) c.862-6228T>A (n.862-6228T>A) c.519T>A (p.His173Gln) c.61-6228T>A (n.61-6228T>A) c.442-6228T>A (n.442-6228T>A) | |
2 | g.233760806T>C | CA2179838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6228T>C (n.856-6228T>C) c.868-6228T>C (n.868-6228T>C) c.862-6228T>C (n.862-6228T>C) c.519T>C (p.His173=) c.61-6228T>C (n.61-6228T>C) c.442-6228T>C (n.442-6228T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760806T>G | CA351066944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6228T>G (n.856-6228T>G) c.868-6228T>G (n.868-6228T>G) c.862-6228T>G (n.862-6228T>G) c.519T>G (p.His173Gln) c.61-6228T>G (n.61-6228T>G) c.442-6228T>G (n.442-6228T>G) | |
2 | g.233760806T= | CA1335889495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6228T= (n.856-6228T=) c.868-6228T= (n.868-6228T=) c.862-6228T= (n.862-6228T=) c.519T= (p.His173=) c.61-6228T= (n.61-6228T=) c.442-6228T= (n.442-6228T=) | |
2 | g.233760807G>A | CA351066951 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6227G>A (n.856-6227G>A) c.868-6227G>A (n.868-6227G>A) c.862-6227G>A (n.862-6227G>A) c.520G>A (p.Ala174Thr) c.61-6227G>A (n.61-6227G>A) c.442-6227G>A (n.442-6227G>A) | |
2 | g.233760807G>C | CA351066949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6227G>C (n.856-6227G>C) c.868-6227G>C (n.868-6227G>C) c.862-6227G>C (n.862-6227G>C) c.520G>C (p.Ala174Pro) c.61-6227G>C (n.61-6227G>C) c.442-6227G>C (n.442-6227G>C) | |
2 | g.233760807G>T | CA351066946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6227G>T (n.856-6227G>T) c.868-6227G>T (n.868-6227G>T) c.862-6227G>T (n.862-6227G>T) c.520G>T (p.Ala174Ser) c.61-6227G>T (n.61-6227G>T) c.442-6227G>T (n.442-6227G>T) | |
2 | g.233760808C>A | CA351066954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6226C>A (n.856-6226C>A) c.868-6226C>A (n.868-6226C>A) c.862-6226C>A (n.862-6226C>A) c.521C>A (p.Ala174Glu) c.61-6226C>A (n.61-6226C>A) c.442-6226C>A (n.442-6226C>A) | |
2 | g.233760808C>G | CA351066956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6226C>G (n.856-6226C>G) c.868-6226C>G (n.868-6226C>G) c.862-6226C>G (n.862-6226C>G) c.521C>G (p.Ala174Gly) c.61-6226C>G (n.61-6226C>G) c.442-6226C>G (n.442-6226C>G) | |
2 | g.233760808C>T | CA351066958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6226C>T (n.856-6226C>T) c.868-6226C>T (n.868-6226C>T) c.862-6226C>T (n.862-6226C>T) c.521C>T (p.Ala174Val) c.61-6226C>T (n.61-6226C>T) c.442-6226C>T (n.442-6226C>T) | gnomAD v4 |
2 | g.233760809A= | CA1335889498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6225A= (n.856-6225A=) c.868-6225A= (n.868-6225A=) c.862-6225A= (n.862-6225A=) c.522A= (p.Ala174=) c.61-6225A= (n.61-6225A=) c.442-6225A= (n.442-6225A=) | |
2 | g.233760809A>C | CA431960493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6225A>C (n.856-6225A>C) c.868-6225A>C (n.868-6225A>C) c.862-6225A>C (n.862-6225A>C) c.522A>C (p.Ala174=) c.61-6225A>C (n.61-6225A>C) c.442-6225A>C (n.442-6225A>C) | |
2 | g.233760809A>G | CA431960491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6225A>G (n.856-6225A>G) c.868-6225A>G (n.868-6225A>G) c.862-6225A>G (n.862-6225A>G) c.522A>G (p.Ala174=) c.61-6225A>G (n.61-6225A>G) c.442-6225A>G (n.442-6225A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760809A>T | CA431960496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6225A>T (n.856-6225A>T) c.868-6225A>T (n.868-6225A>T) c.862-6225A>T (n.862-6225A>T) c.522A>T (p.Ala174=) c.61-6225A>T (n.61-6225A>T) c.442-6225A>T (n.442-6225A>T) | |
2 | g.233760810C>A | CA351066960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6224C>A (n.856-6224C>A) c.868-6224C>A (n.868-6224C>A) c.862-6224C>A (n.862-6224C>A) c.523C>A (p.Leu175Met) c.61-6224C>A (n.61-6224C>A) c.442-6224C>A (n.442-6224C>A) | |
2 | g.233760810C>G | CA351066962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6224C>G (n.856-6224C>G) c.868-6224C>G (n.868-6224C>G) c.862-6224C>G (n.862-6224C>G) c.523C>G (p.Leu175Val) c.61-6224C>G (n.61-6224C>G) c.442-6224C>G (n.442-6224C>G) | |
2 | g.233760810C>T | CA431960497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6224C>T (n.856-6224C>T) c.868-6224C>T (n.868-6224C>T) c.862-6224C>T (n.862-6224C>T) c.523C>T (p.Leu175=) c.61-6224C>T (n.61-6224C>T) c.442-6224C>T (n.442-6224C>T) | |
2 | g.233760811T>A | CA122102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>A (n.856-6223T>A) c.868-6223T>A (n.868-6223T>A) c.862-6223T>A (n.862-6223T>A) c.524T>A (p.Leu175Gln) c.61-6223T>A (n.61-6223T>A) c.442-6223T>A (n.442-6223T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760811T>C | CA351066964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>C (n.856-6223T>C) c.868-6223T>C (n.868-6223T>C) c.862-6223T>C (n.862-6223T>C) c.524T>C (p.Leu175Pro) c.61-6223T>C (n.61-6223T>C) c.442-6223T>C (n.442-6223T>C) | |
2 | g.233760811T>G | CA351066965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>G (n.856-6223T>G) c.868-6223T>G (n.868-6223T>G) c.862-6223T>G (n.862-6223T>G) c.524T>G (p.Leu175Arg) c.61-6223T>G (n.61-6223T>G) c.442-6223T>G (n.442-6223T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760811T= | CA1335889502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T= (n.856-6223T=) c.868-6223T= (n.868-6223T=) c.862-6223T= (n.862-6223T=) c.524T= (p.Leu175=) c.61-6223T= (n.61-6223T=) c.442-6223T= (n.442-6223T=) | |
2 | g.233760812G>A | CA431960501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>A (n.856-6222G>A) c.868-6222G>A (n.868-6222G>A) c.862-6222G>A (n.862-6222G>A) c.525G>A (p.Leu175=) c.61-6222G>A (n.61-6222G>A) c.442-6222G>A (n.442-6222G>A) | dbSNP |
2 | g.233760812G>C | CA431960500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>C (n.856-6222G>C) c.868-6222G>C (n.868-6222G>C) c.862-6222G>C (n.862-6222G>C) c.525G>C (p.Leu175=) c.61-6222G>C (n.61-6222G>C) c.442-6222G>C (n.442-6222G>C) | |
2 | g.233760812G>T | CA431960502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>T (n.856-6222G>T) c.868-6222G>T (n.868-6222G>T) c.862-6222G>T (n.862-6222G>T) c.525G>T (p.Leu175=) c.61-6222G>T (n.61-6222G>T) c.442-6222G>T (n.442-6222G>T) | |
2 | g.233760813C>A | CA351066967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>A (n.856-6221C>A) c.868-6221C>A (n.868-6221C>A) c.862-6221C>A (n.862-6221C>A) c.526C>A (p.Pro176Thr) c.61-6221C>A (n.61-6221C>A) c.442-6221C>A (n.442-6221C>A) | |
2 | g.233760813C>G | CA351066968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>G (n.856-6221C>G) c.868-6221C>G (n.868-6221C>G) c.862-6221C>G (n.862-6221C>G) c.526C>G (p.Pro176Ala) c.61-6221C>G (n.61-6221C>G) c.442-6221C>G (n.442-6221C>G) | |
2 | g.233760813C>T | CA351066970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>T (n.856-6221C>T) c.868-6221C>T (n.868-6221C>T) c.862-6221C>T (n.862-6221C>T) c.526C>T (p.Pro176Ser) c.61-6221C>T (n.61-6221C>T) c.442-6221C>T (n.442-6221C>T) | |
2 | g.233760814C>A | CA351066975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>A (n.856-6220C>A) c.868-6220C>A (n.868-6220C>A) c.862-6220C>A (n.862-6220C>A) c.527C>A (p.Pro176Gln) c.61-6220C>A (n.61-6220C>A) c.442-6220C>A (n.442-6220C>A) | |
2 | g.233760814C>G | CA351066977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>G (n.856-6220C>G) c.868-6220C>G (n.868-6220C>G) c.862-6220C>G (n.862-6220C>G) c.527C>G (p.Pro176Arg) c.61-6220C>G (n.61-6220C>G) c.442-6220C>G (n.442-6220C>G) | |
2 | g.233760814C>T | CA351066973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>T (n.856-6220C>T) c.868-6220C>T (n.868-6220C>T) c.862-6220C>T (n.862-6220C>T) c.527C>T (p.Pro176Leu) c.61-6220C>T (n.61-6220C>T) c.442-6220C>T (n.442-6220C>T) | |
2 | g.233760815A>C | CA431960507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>C (n.856-6219A>C) c.868-6219A>C (n.868-6219A>C) c.862-6219A>C (n.862-6219A>C) c.528A>C (p.Pro176=) c.61-6219A>C (n.61-6219A>C) c.442-6219A>C (n.442-6219A>C) | |
2 | g.233760815A>G | CA431960508 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>G (n.856-6219A>G) c.868-6219A>G (n.868-6219A>G) c.862-6219A>G (n.862-6219A>G) c.528A>G (p.Pro176=) c.61-6219A>G (n.61-6219A>G) c.442-6219A>G (n.442-6219A>G) | gnomAD v4 |
2 | g.233760815A>T | CA431960506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>T (n.856-6219A>T) c.868-6219A>T (n.868-6219A>T) c.862-6219A>T (n.862-6219A>T) c.528A>T (p.Pro176=) c.61-6219A>T (n.61-6219A>T) c.442-6219A>T (n.442-6219A>T) | |
2 | g.233760816T>A | CA351066979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>A (n.856-6218T>A) c.868-6218T>A (n.868-6218T>A) c.862-6218T>A (n.862-6218T>A) c.529T>A (p.Cys177Ser) c.61-6218T>A (n.61-6218T>A) c.442-6218T>A (n.442-6218T>A) | |
2 | g.233760816T>C | CA2179839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>C (n.856-6218T>C) c.868-6218T>C (n.868-6218T>C) c.862-6218T>C (n.862-6218T>C) c.529T>C (p.Cys177Arg) c.61-6218T>C (n.61-6218T>C) c.442-6218T>C (n.442-6218T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760816T>G | CA351066980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>G (n.856-6218T>G) c.868-6218T>G (n.868-6218T>G) c.862-6218T>G (n.862-6218T>G) c.529T>G (p.Cys177Gly) c.61-6218T>G (n.61-6218T>G) c.442-6218T>G (n.442-6218T>G) | |
2 | g.233760816T= | CA1335889506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T= (n.856-6218T=) c.868-6218T= (n.868-6218T=) c.862-6218T= (n.862-6218T=) c.529T= (p.Cys177=) c.61-6218T= (n.61-6218T=) c.442-6218T= (n.442-6218T=) | |
2 | g.233760817G>A | CA351066981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>A (n.856-6217G>A) c.868-6217G>A (n.868-6217G>A) c.862-6217G>A (n.862-6217G>A) c.530G>A (p.Cys177Tyr) c.61-6217G>A (n.61-6217G>A) c.442-6217G>A (n.442-6217G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760817G>C | CA351066982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>C (n.856-6217G>C) c.868-6217G>C (n.868-6217G>C) c.862-6217G>C (n.862-6217G>C) c.530G>C (p.Cys177Ser) c.61-6217G>C (n.61-6217G>C) c.442-6217G>C (n.442-6217G>C) | |
2 | g.233760817G= | CA1335889510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G= (n.856-6217G=) c.868-6217G= (n.868-6217G=) c.862-6217G= (n.862-6217G=) c.530G= (p.Cys177=) c.61-6217G= (n.61-6217G=) c.442-6217G= (n.442-6217G=) | |
2 | g.233760817G>T | CA351066984 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>T (n.856-6217G>T) c.868-6217G>T (n.868-6217G>T) c.862-6217G>T (n.862-6217G>T) c.530G>T (p.Cys177Phe) c.61-6217G>T (n.61-6217G>T) c.442-6217G>T (n.442-6217G>T) | |
2 | g.233760818C>A | CA351066988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>A (n.856-6216C>A) c.868-6216C>A (n.868-6216C>A) c.862-6216C>A (n.862-6216C>A) c.531C>A (p.Cys177Ter) c.61-6216C>A (n.61-6216C>A) c.442-6216C>A (n.442-6216C>A) | |
2 | g.233760818C>G | CA351066990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>G (n.856-6216C>G) c.868-6216C>G (n.868-6216C>G) c.862-6216C>G (n.862-6216C>G) c.531C>G (p.Cys177Trp) c.61-6216C>G (n.61-6216C>G) c.442-6216C>G (n.442-6216C>G) | |
2 | g.233760818C>T | CA431960512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>T (n.856-6216C>T) c.868-6216C>T (n.868-6216C>T) c.862-6216C>T (n.862-6216C>T) c.531C>T (p.Cys177=) c.61-6216C>T (n.61-6216C>T) c.442-6216C>T (n.442-6216C>T) | |
2 | g.233760819A= | CA1335889513 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A= (n.856-6215A=) c.868-6215A= (n.868-6215A=) c.862-6215A= (n.862-6215A=) c.532A= (p.Ser178=) c.61-6215A= (n.61-6215A=) c.442-6215A= (n.442-6215A=) | |
2 | g.233760819A>C | CA351066992 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>C (n.856-6215A>C) c.868-6215A>C (n.868-6215A>C) c.862-6215A>C (n.862-6215A>C) c.532A>C (p.Ser178Arg) c.61-6215A>C (n.61-6215A>C) c.442-6215A>C (n.442-6215A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760819A>G | CA351066994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>G (n.856-6215A>G) c.868-6215A>G (n.868-6215A>G) c.862-6215A>G (n.862-6215A>G) c.532A>G (p.Ser178Gly) c.61-6215A>G (n.61-6215A>G) c.442-6215A>G (n.442-6215A>G) | |
2 | g.233760819A>T | CA351066995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>T (n.856-6215A>T) c.868-6215A>T (n.868-6215A>T) c.862-6215A>T (n.862-6215A>T) c.532A>T (p.Ser178Cys) c.61-6215A>T (n.61-6215A>T) c.442-6215A>T (n.442-6215A>T) | |
2 | g.233760820G>A | CA351067000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>A (n.856-6214G>A) c.868-6214G>A (n.868-6214G>A) c.862-6214G>A (n.862-6214G>A) c.533G>A (p.Ser178Asn) c.61-6214G>A (n.61-6214G>A) c.442-6214G>A (n.442-6214G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760820G>C | CA351067002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>C (n.856-6214G>C) c.868-6214G>C (n.868-6214G>C) c.862-6214G>C (n.862-6214G>C) c.533G>C (p.Ser178Thr) c.61-6214G>C (n.61-6214G>C) c.442-6214G>C (n.442-6214G>C) | |
2 | g.233760820G= | CA1335889516 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G= (n.856-6214G=) c.868-6214G= (n.868-6214G=) c.862-6214G= (n.862-6214G=) c.533G= (p.Ser178=) c.61-6214G= (n.61-6214G=) c.442-6214G= (n.442-6214G=) | |
2 | g.233760820G>T | CA351066998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>T (n.856-6214G>T) c.868-6214G>T (n.868-6214G>T) c.862-6214G>T (n.862-6214G>T) c.533G>T (p.Ser178Ile) c.61-6214G>T (n.61-6214G>T) c.442-6214G>T (n.442-6214G>T) | |
2 | g.233760821C>A | CA351067004 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>A (n.856-6213C>A) c.868-6213C>A (n.868-6213C>A) c.862-6213C>A (n.862-6213C>A) c.534C>A (p.Ser178Arg) c.61-6213C>A (n.61-6213C>A) c.442-6213C>A (n.442-6213C>A) | |
2 | g.233760821C>G | CA351067006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>G (n.856-6213C>G) c.868-6213C>G (n.868-6213C>G) c.862-6213C>G (n.862-6213C>G) c.534C>G (p.Ser178Arg) c.61-6213C>G (n.61-6213C>G) c.442-6213C>G (n.442-6213C>G) | |
2 | g.233760821C>T | CA431960516 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>T (n.856-6213C>T) c.868-6213C>T (n.868-6213C>T) c.862-6213C>T (n.862-6213C>T) c.534C>T (p.Ser178=) c.61-6213C>T (n.61-6213C>T) c.442-6213C>T (n.442-6213C>T) | |
2 | g.233760822C>A | CA351067008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>A (n.856-6212C>A) c.868-6212C>A (n.868-6212C>A) c.862-6212C>A (n.862-6212C>A) c.535C>A (p.Leu179Met) c.61-6212C>A (n.61-6212C>A) c.442-6212C>A (n.442-6212C>A) | |
2 | g.233760822C>G | CA351067010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>G (n.856-6212C>G) c.868-6212C>G (n.868-6212C>G) c.862-6212C>G (n.862-6212C>G) c.535C>G (p.Leu179Val) c.61-6212C>G (n.61-6212C>G) c.442-6212C>G (n.442-6212C>G) | |
2 | g.233760822C>T | CA431960522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>T (n.856-6212C>T) c.868-6212C>T (n.868-6212C>T) c.862-6212C>T (n.862-6212C>T) c.535C>T (p.Leu179=) c.61-6212C>T (n.61-6212C>T) c.442-6212C>T (n.442-6212C>T) | |
2 | g.233760823T>A | CA351067017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>A (n.856-6211T>A) c.868-6211T>A (n.868-6211T>A) c.862-6211T>A (n.862-6211T>A) c.536T>A (p.Leu179Gln) c.61-6211T>A (n.61-6211T>A) c.442-6211T>A (n.442-6211T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760823T>C | CA351067015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>C (n.856-6211T>C) c.868-6211T>C (n.868-6211T>C) c.862-6211T>C (n.862-6211T>C) c.536T>C (p.Leu179Pro) c.61-6211T>C (n.61-6211T>C) c.442-6211T>C (n.442-6211T>C) | |
2 | g.233760823T>G | CA351067013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>G (n.856-6211T>G) c.868-6211T>G (n.868-6211T>G) c.862-6211T>G (n.862-6211T>G) c.536T>G (p.Leu179Arg) c.61-6211T>G (n.61-6211T>G) c.442-6211T>G (n.442-6211T>G) | gnomAD v4 |
2 | g.233760823T= | CA1335889521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T= (n.856-6211T=) c.868-6211T= (n.868-6211T=) c.862-6211T= (n.862-6211T=) c.536T= (p.Leu179=) c.61-6211T= (n.61-6211T=) c.442-6211T= (n.442-6211T=) | |
2 | g.233760824G>A | CA431960529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>A (n.856-6210G>A) c.868-6210G>A (n.868-6210G>A) c.862-6210G>A (n.862-6210G>A) c.537G>A (p.Leu179=) c.61-6210G>A (n.61-6210G>A) c.442-6210G>A (n.442-6210G>A) | |
2 | g.233760824G>C | CA431960535 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>C (n.856-6210G>C) c.868-6210G>C (n.868-6210G>C) c.862-6210G>C (n.862-6210G>C) c.537G>C (p.Leu179=) c.61-6210G>C (n.61-6210G>C) c.442-6210G>C (n.442-6210G>C) | |
2 | g.233760824G>T | CA431960531 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>T (n.856-6210G>T) c.868-6210G>T (n.868-6210G>T) c.862-6210G>T (n.862-6210G>T) c.537G>T (p.Leu179=) c.61-6210G>T (n.61-6210G>T) c.442-6210G>T (n.442-6210G>T) | |
2 | g.233760825G>A | CA351067020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G>A (n.856-6209G>A) c.868-6209G>A (n.868-6209G>A) c.862-6209G>A (n.862-6209G>A) c.538G>A (p.Glu180Lys) c.61-6209G>A (n.61-6209G>A) c.442-6209G>A (n.442-6209G>A) | |
2 | g.233760825G>C | CA351067021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G>C (n.856-6209G>C) c.868-6209G>C (n.868-6209G>C) c.862-6209G>C (n.862-6209G>C) c.538G>C (p.Glu180Gln) c.61-6209G>C (n.61-6209G>C) c.442-6209G>C (n.442-6209G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760825G= | CA1335889523 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G= (n.856-6209G=) c.868-6209G= (n.868-6209G=) c.862-6209G= (n.862-6209G=) c.538G= (p.Glu180=) c.61-6209G= (n.61-6209G=) c.442-6209G= (n.442-6209G=) | |
2 | g.233760825G>T | CA351067022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G>T (n.856-6209G>T) c.868-6209G>T (n.868-6209G>T) c.862-6209G>T (n.862-6209G>T) c.538G>T (p.Glu180Ter) c.61-6209G>T (n.61-6209G>T) c.442-6209G>T (n.442-6209G>T) | |
2 | g.233760826A>C | CA351067023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6208A>C (n.856-6208A>C) c.868-6208A>C (n.868-6208A>C) c.862-6208A>C (n.862-6208A>C) c.539A>C (p.Glu180Ala) c.61-6208A>C (n.61-6208A>C) c.442-6208A>C (n.442-6208A>C) | |
2 | g.233760826A>G | CA351067024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6208A>G (n.856-6208A>G) c.868-6208A>G (n.868-6208A>G) c.862-6208A>G (n.862-6208A>G) c.539A>G (p.Glu180Gly) c.61-6208A>G (n.61-6208A>G) c.442-6208A>G (n.442-6208A>G) | |
2 | g.233760826A>T | CA351067026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6208A>T (n.856-6208A>T) c.868-6208A>T (n.868-6208A>T) c.862-6208A>T (n.862-6208A>T) c.539A>T (p.Glu180Val) c.61-6208A>T (n.61-6208A>T) c.442-6208A>T (n.442-6208A>T) | |
2 | g.233760827A= | CA1335889528 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6207A= (n.856-6207A=) c.868-6207A= (n.868-6207A=) c.862-6207A= (n.862-6207A=) c.540A= (p.Glu180=) c.61-6207A= (n.61-6207A=) c.442-6207A= (n.442-6207A=) | |
2 | g.233760827A>C | CA351067031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6207A>C (n.856-6207A>C) c.868-6207A>C (n.868-6207A>C) c.862-6207A>C (n.862-6207A>C) c.540A>C (p.Glu180Asp) c.61-6207A>C (n.61-6207A>C) c.442-6207A>C (n.442-6207A>C) | |
2 | g.233760827A>G | CA2179840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6207A>G (n.856-6207A>G) c.868-6207A>G (n.868-6207A>G) c.862-6207A>G (n.862-6207A>G) c.540A>G (p.Glu180=) c.61-6207A>G (n.61-6207A>G) c.442-6207A>G (n.442-6207A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760827A>T | CA351067027 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6207A>T (n.856-6207A>T) c.868-6207A>T (n.868-6207A>T) c.862-6207A>T (n.862-6207A>T) c.540A>T (p.Glu180Asp) c.61-6207A>T (n.61-6207A>T) c.442-6207A>T (n.442-6207A>T) | |
2 | g.233760828T>A | CA351067034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6206T>A (n.856-6206T>A) c.868-6206T>A (n.868-6206T>A) c.862-6206T>A (n.862-6206T>A) c.541T>A (p.Phe181Ile) c.61-6206T>A (n.61-6206T>A) c.442-6206T>A (n.442-6206T>A) | |
2 | g.233760828T>C | CA351067036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6206T>C (n.856-6206T>C) c.868-6206T>C (n.868-6206T>C) c.862-6206T>C (n.862-6206T>C) c.541T>C (p.Phe181Leu) c.61-6206T>C (n.61-6206T>C) c.442-6206T>C (n.442-6206T>C) | |
2 | g.233760828T>G | CA351067039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6206T>G (n.856-6206T>G) c.868-6206T>G (n.868-6206T>G) c.862-6206T>G (n.862-6206T>G) c.541T>G (p.Phe181Val) c.61-6206T>G (n.61-6206T>G) c.442-6206T>G (n.442-6206T>G) | |
2 | g.233760829T>A | CA351067041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6205T>A (n.856-6205T>A) c.868-6205T>A (n.868-6205T>A) c.862-6205T>A (n.862-6205T>A) c.542T>A (p.Phe181Tyr) c.61-6205T>A (n.61-6205T>A) c.442-6205T>A (n.442-6205T>A) | |
2 | g.233760829T>C | CA351067043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6205T>C (n.856-6205T>C) c.868-6205T>C (n.868-6205T>C) c.862-6205T>C (n.862-6205T>C) c.542T>C (p.Phe181Ser) c.61-6205T>C (n.61-6205T>C) c.442-6205T>C (n.442-6205T>C) | |
2 | g.233760829T>G | CA351067045 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6205T>G (n.856-6205T>G) c.868-6205T>G (n.868-6205T>G) c.862-6205T>G (n.862-6205T>G) c.542T>G (p.Phe181Cys) c.61-6205T>G (n.61-6205T>G) c.442-6205T>G (n.442-6205T>G) | |
2 | g.233760830T>A | CA351067049 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6204T>A (n.856-6204T>A) c.868-6204T>A (n.868-6204T>A) c.862-6204T>A (n.862-6204T>A) c.543T>A (p.Phe181Leu) c.61-6204T>A (n.61-6204T>A) c.442-6204T>A (n.442-6204T>A) | |
2 | g.233760830T>C | CA431960543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6204T>C (n.856-6204T>C) c.868-6204T>C (n.868-6204T>C) c.862-6204T>C (n.862-6204T>C) c.543T>C (p.Phe181=) c.61-6204T>C (n.61-6204T>C) c.442-6204T>C (n.442-6204T>C) | |
2 | g.233760830T>G | CA351067047 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6204T>G (n.856-6204T>G) c.868-6204T>G (n.868-6204T>G) c.862-6204T>G (n.862-6204T>G) c.543T>G (p.Phe181Leu) c.61-6204T>G (n.61-6204T>G) c.442-6204T>G (n.442-6204T>G) | |
2 | g.233760831G>A | CA351067051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6203G>A (n.856-6203G>A) c.868-6203G>A (n.868-6203G>A) c.862-6203G>A (n.862-6203G>A) c.544G>A (p.Glu182Lys) c.61-6203G>A (n.61-6203G>A) c.442-6203G>A (n.442-6203G>A) | |
2 | g.233760831G>C | CA351067052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6203G>C (n.856-6203G>C) c.868-6203G>C (n.868-6203G>C) c.862-6203G>C (n.862-6203G>C) c.544G>C (p.Glu182Gln) c.61-6203G>C (n.61-6203G>C) c.442-6203G>C (n.442-6203G>C) | |
2 | g.233760831G>T | CA351067053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6203G>T (n.856-6203G>T) c.868-6203G>T (n.868-6203G>T) c.862-6203G>T (n.862-6203G>T) c.544G>T (p.Glu182Ter) c.61-6203G>T (n.61-6203G>T) c.442-6203G>T (n.442-6203G>T) | |
2 | g.233760832A>C | CA351067057 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6202A>C (n.856-6202A>C) c.868-6202A>C (n.868-6202A>C) c.862-6202A>C (n.862-6202A>C) c.545A>C (p.Glu182Ala) c.61-6202A>C (n.61-6202A>C) c.442-6202A>C (n.442-6202A>C) | |
2 | g.233760832A>G | CA351067059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6202A>G (n.856-6202A>G) c.868-6202A>G (n.868-6202A>G) c.862-6202A>G (n.862-6202A>G) c.545A>G (p.Glu182Gly) c.61-6202A>G (n.61-6202A>G) c.442-6202A>G (n.442-6202A>G) | |
2 | g.233760832A>T | CA351067060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6202A>T (n.856-6202A>T) c.868-6202A>T (n.868-6202A>T) c.862-6202A>T (n.862-6202A>T) c.545A>T (p.Glu182Val) c.61-6202A>T (n.61-6202A>T) c.442-6202A>T (n.442-6202A>T) | |
2 | g.233760833G>A | CA2179841 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6201G>A (n.856-6201G>A) c.868-6201G>A (n.868-6201G>A) c.862-6201G>A (n.862-6201G>A) c.546G>A (p.Glu182=) c.61-6201G>A (n.61-6201G>A) c.442-6201G>A (n.442-6201G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760833G>C | CA351067063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6201G>C (n.856-6201G>C) c.868-6201G>C (n.868-6201G>C) c.862-6201G>C (n.862-6201G>C) c.546G>C (p.Glu182Asp) c.61-6201G>C (n.61-6201G>C) c.442-6201G>C (n.442-6201G>C) | |
2 | g.233760833G= | CA1335889534 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6201G= (n.856-6201G=) c.868-6201G= (n.868-6201G=) c.862-6201G= (n.862-6201G=) c.546G= (p.Glu182=) c.61-6201G= (n.61-6201G=) c.442-6201G= (n.442-6201G=) | |
2 | g.233760833G>T | CA351067064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6201G>T (n.856-6201G>T) c.868-6201G>T (n.868-6201G>T) c.862-6201G>T (n.862-6201G>T) c.546G>T (p.Glu182Asp) c.61-6201G>T (n.61-6201G>T) c.442-6201G>T (n.442-6201G>T) | |
2 | g.233760834G>A | CA351067066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6200G>A (n.856-6200G>A) c.868-6200G>A (n.868-6200G>A) c.862-6200G>A (n.862-6200G>A) c.547G>A (p.Ala183Thr) c.61-6200G>A (n.61-6200G>A) c.442-6200G>A (n.442-6200G>A) | gnomAD v4 |
2 | g.233760834G>C | CA351067067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6200G>C (n.856-6200G>C) c.868-6200G>C (n.868-6200G>C) c.862-6200G>C (n.862-6200G>C) c.547G>C (p.Ala183Pro) c.61-6200G>C (n.61-6200G>C) c.442-6200G>C (n.442-6200G>C) | |
2 | g.233760834G>T | CA351067069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6200G>T (n.856-6200G>T) c.868-6200G>T (n.868-6200G>T) c.862-6200G>T (n.862-6200G>T) c.547G>T (p.Ala183Ser) c.61-6200G>T (n.61-6200G>T) c.442-6200G>T (n.442-6200G>T) | |
2 | g.233760835C>A | CA351067071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6199C>A (n.856-6199C>A) c.868-6199C>A (n.868-6199C>A) c.862-6199C>A (n.862-6199C>A) c.548C>A (p.Ala183Asp) c.61-6199C>A (n.61-6199C>A) c.442-6199C>A (n.442-6199C>A) | |
2 | g.233760835C>G | CA351067073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6199C>G (n.856-6199C>G) c.868-6199C>G (n.868-6199C>G) c.862-6199C>G (n.862-6199C>G) c.548C>G (p.Ala183Gly) c.61-6199C>G (n.61-6199C>G) c.442-6199C>G (n.442-6199C>G) | |
2 | g.233760835C>T | CA351067075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6199C>T (n.856-6199C>T) c.868-6199C>T (n.868-6199C>T) c.862-6199C>T (n.862-6199C>T) c.548C>T (p.Ala183Val) c.61-6199C>T (n.61-6199C>T) c.442-6199C>T (n.442-6199C>T) | |
2 | g.233760836T>A | CA431960561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6198T>A (n.856-6198T>A) c.868-6198T>A (n.868-6198T>A) c.862-6198T>A (n.862-6198T>A) c.549T>A (p.Ala183=) c.61-6198T>A (n.61-6198T>A) c.442-6198T>A (n.442-6198T>A) | |
2 | g.233760836T>C | CA431960559 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6198T>C (n.856-6198T>C) c.868-6198T>C (n.868-6198T>C) c.862-6198T>C (n.862-6198T>C) c.549T>C (p.Ala183=) c.61-6198T>C (n.61-6198T>C) c.442-6198T>C (n.442-6198T>C) | gnomAD v4 |
2 | g.233760836T>G | CA431960560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6198T>G (n.856-6198T>G) c.868-6198T>G (n.868-6198T>G) c.862-6198T>G (n.862-6198T>G) c.549T>G (p.Ala183=) c.61-6198T>G (n.61-6198T>G) c.442-6198T>G (n.442-6198T>G) | |
2 | g.233760837A= | CA1335889537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6197A= (n.856-6197A=) c.868-6197A= (n.868-6197A=) c.862-6197A= (n.862-6197A=) c.550A= (p.Thr184=) c.61-6197A= (n.61-6197A=) c.442-6197A= (n.442-6197A=) | |
2 | g.233760837A>C | CA351067078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6197A>C (n.856-6197A>C) c.868-6197A>C (n.868-6197A>C) c.862-6197A>C (n.862-6197A>C) c.550A>C (p.Thr184Pro) c.61-6197A>C (n.61-6197A>C) c.442-6197A>C (n.442-6197A>C) | |
2 | g.233760837A>G | CA351067080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6197A>G (n.856-6197A>G) c.868-6197A>G (n.868-6197A>G) c.862-6197A>G (n.862-6197A>G) c.550A>G (p.Thr184Ala) c.61-6197A>G (n.61-6197A>G) c.442-6197A>G (n.442-6197A>G) | gnomAD v4 |
2 | g.233760837A>T | CA351067082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6197A>T (n.856-6197A>T) c.868-6197A>T (n.868-6197A>T) c.862-6197A>T (n.862-6197A>T) c.550A>T (p.Thr184Ser) c.61-6197A>T (n.61-6197A>T) c.442-6197A>T (n.442-6197A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760838C>A | CA351067085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6196C>A (n.856-6196C>A) c.868-6196C>A (n.868-6196C>A) c.862-6196C>A (n.862-6196C>A) c.551C>A (p.Thr184Asn) c.61-6196C>A (n.61-6196C>A) c.442-6196C>A (n.442-6196C>A) | |
2 | g.233760838C>G | CA351067087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6196C>G (n.856-6196C>G) c.868-6196C>G (n.868-6196C>G) c.862-6196C>G (n.862-6196C>G) c.551C>G (p.Thr184Ser) c.61-6196C>G (n.61-6196C>G) c.442-6196C>G (n.442-6196C>G) | |
2 | g.233760838C>T | CA351067089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6196C>T (n.856-6196C>T) c.868-6196C>T (n.868-6196C>T) c.862-6196C>T (n.862-6196C>T) c.551C>T (p.Thr184Ile) c.61-6196C>T (n.61-6196C>T) c.442-6196C>T (n.442-6196C>T) | |
2 | g.233760839C>A | CA431960568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6195C>A (n.856-6195C>A) c.868-6195C>A (n.868-6195C>A) c.862-6195C>A (n.862-6195C>A) c.552C>A (p.Thr184=) c.61-6195C>A (n.61-6195C>A) c.442-6195C>A (n.442-6195C>A) | |
2 | g.233760839C>G | CA431960566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6195C>G (n.856-6195C>G) c.868-6195C>G (n.868-6195C>G) c.862-6195C>G (n.862-6195C>G) c.552C>G (p.Thr184=) c.61-6195C>G (n.61-6195C>G) c.442-6195C>G (n.442-6195C>G) | |
2 | g.233760839C>T | CA431960567 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6195C>T (n.856-6195C>T) c.868-6195C>T (n.868-6195C>T) c.862-6195C>T (n.862-6195C>T) c.552C>T (p.Thr184=) c.61-6195C>T (n.61-6195C>T) c.442-6195C>T (n.442-6195C>T) | |
2 | g.233760840C>A | CA351067091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6194C>A (n.856-6194C>A) c.868-6194C>A (n.868-6194C>A) c.862-6194C>A (n.862-6194C>A) c.553C>A (p.Gln185Lys) c.61-6194C>A (n.61-6194C>A) c.442-6194C>A (n.442-6194C>A) | |
2 | g.233760840C>G | CA351067095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6194C>G (n.856-6194C>G) c.868-6194C>G (n.868-6194C>G) c.862-6194C>G (n.862-6194C>G) c.553C>G (p.Gln185Glu) c.61-6194C>G (n.61-6194C>G) c.442-6194C>G (n.442-6194C>G) | |
2 | g.233760840C>T | CA351067093 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6194C>T (n.856-6194C>T) c.868-6194C>T (n.868-6194C>T) c.862-6194C>T (n.862-6194C>T) c.553C>T (p.Gln185Ter) c.61-6194C>T (n.61-6194C>T) c.442-6194C>T (n.442-6194C>T) | gnomAD v4 |
2 | g.233760841A>C | CA351067097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6193A>C (n.856-6193A>C) c.868-6193A>C (n.868-6193A>C) c.862-6193A>C (n.862-6193A>C) c.554A>C (p.Gln185Pro) c.61-6193A>C (n.61-6193A>C) c.442-6193A>C (n.442-6193A>C) | |
2 | g.233760841A>G | CA351067101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6193A>G (n.856-6193A>G) c.868-6193A>G (n.868-6193A>G) c.862-6193A>G (n.862-6193A>G) c.554A>G (p.Gln185Arg) c.61-6193A>G (n.61-6193A>G) c.442-6193A>G (n.442-6193A>G) | |
2 | g.233760841A>T | CA351067103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6193A>T (n.856-6193A>T) c.868-6193A>T (n.868-6193A>T) c.862-6193A>T (n.862-6193A>T) c.554A>T (p.Gln185Leu) c.61-6193A>T (n.61-6193A>T) c.442-6193A>T (n.442-6193A>T) | |
2 | g.233760842G>A | CA431960570 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6192G>A (n.856-6192G>A) c.868-6192G>A (n.868-6192G>A) c.862-6192G>A (n.862-6192G>A) c.555G>A (p.Gln185=) c.61-6192G>A (n.61-6192G>A) c.442-6192G>A (n.442-6192G>A) | |
2 | g.233760842G>C | CA351067104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6192G>C (n.856-6192G>C) c.868-6192G>C (n.868-6192G>C) c.862-6192G>C (n.862-6192G>C) c.555G>C (p.Gln185His) c.61-6192G>C (n.61-6192G>C) c.442-6192G>C (n.442-6192G>C) | |
2 | g.233760842G>T | CA351067105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6192G>T (n.856-6192G>T) c.868-6192G>T (n.868-6192G>T) c.862-6192G>T (n.862-6192G>T) c.555G>T (p.Gln185His) c.61-6192G>T (n.61-6192G>T) c.442-6192G>T (n.442-6192G>T) | |
2 | g.233760843T>A | CA351067106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6191T>A (n.856-6191T>A) c.868-6191T>A (n.868-6191T>A) c.862-6191T>A (n.862-6191T>A) c.556T>A (p.Cys186Ser) c.61-6191T>A (n.61-6191T>A) c.442-6191T>A (n.442-6191T>A) | |
2 | g.233760843T>C | CA351067107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6191T>C (n.856-6191T>C) c.868-6191T>C (n.868-6191T>C) c.862-6191T>C (n.862-6191T>C) c.556T>C (p.Cys186Arg) c.61-6191T>C (n.61-6191T>C) c.442-6191T>C (n.442-6191T>C) | |
2 | g.233760843T>G | CA351067108 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6191T>G (n.856-6191T>G) c.868-6191T>G (n.868-6191T>G) c.862-6191T>G (n.862-6191T>G) c.556T>G (p.Cys186Gly) c.61-6191T>G (n.61-6191T>G) c.442-6191T>G (n.442-6191T>G) | |
2 | g.233760844G>A | CA351067109 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6190G>A (n.856-6190G>A) c.868-6190G>A (n.868-6190G>A) c.862-6190G>A (n.862-6190G>A) c.557G>A (p.Cys186Tyr) c.61-6190G>A (n.61-6190G>A) c.442-6190G>A (n.442-6190G>A) | |
2 | g.233760844G>C | CA351067110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6190G>C (n.856-6190G>C) c.868-6190G>C (n.868-6190G>C) c.862-6190G>C (n.862-6190G>C) c.557G>C (p.Cys186Ser) c.61-6190G>C (n.61-6190G>C) c.442-6190G>C (n.442-6190G>C) | |
2 | g.233760844G>T | CA351067112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6190G>T (n.856-6190G>T) c.868-6190G>T (n.868-6190G>T) c.862-6190G>T (n.862-6190G>T) c.557G>T (p.Cys186Phe) c.61-6190G>T (n.61-6190G>T) c.442-6190G>T (n.442-6190G>T) | |
2 | g.233760845C>A | CA351067115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6189C>A (n.856-6189C>A) c.868-6189C>A (n.868-6189C>A) c.862-6189C>A (n.862-6189C>A) c.558C>A (p.Cys186Ter) c.61-6189C>A (n.61-6189C>A) c.442-6189C>A (n.442-6189C>A) | |
2 | g.233760845C>G | CA351067117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6189C>G (n.856-6189C>G) c.868-6189C>G (n.868-6189C>G) c.862-6189C>G (n.862-6189C>G) c.558C>G (p.Cys186Trp) c.61-6189C>G (n.61-6189C>G) c.442-6189C>G (n.442-6189C>G) | |
2 | g.233760845C>T | CA431960577 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6189C>T (n.856-6189C>T) c.868-6189C>T (n.868-6189C>T) c.862-6189C>T (n.862-6189C>T) c.558C>T (p.Cys186=) c.61-6189C>T (n.61-6189C>T) c.442-6189C>T (n.442-6189C>T) | |
2 | g.233760847_233760848del | CA2663717464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187_856-6186del (n.856-6187_856-6186del) c.868-6187_868-6186del (n.868-6187_868-6186del) c.862-6187_862-6186del (n.862-6187_862-6186del) c.560_561del (p.Pro187GlnfsTer?) c.61-6187_61-6186del (n.61-6187_61-6186del) c.442-6187_442-6186del (n.442-6187_442-6186del) | gnomAD v4 |
2 | g.233760846C>A | CA351067119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>A (n.856-6188C>A) c.868-6188C>A (n.868-6188C>A) c.862-6188C>A (n.862-6188C>A) c.559C>A (p.Pro187Thr) c.61-6188C>A (n.61-6188C>A) c.442-6188C>A (n.442-6188C>A) | |
2 | g.233760846C= | CA1335889538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C= (n.856-6188C=) c.868-6188C= (n.868-6188C=) c.862-6188C= (n.862-6188C=) c.559C= (p.Pro187=) c.61-6188C= (n.61-6188C=) c.442-6188C= (n.442-6188C=) | |
2 | g.233760846C>G | CA2179842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>G (n.856-6188C>G) c.868-6188C>G (n.868-6188C>G) c.862-6188C>G (n.862-6188C>G) c.559C>G (p.Pro187Ala) c.61-6188C>G (n.61-6188C>G) c.442-6188C>G (n.442-6188C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760846C>T | CA351067120 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>T (n.856-6188C>T) c.868-6188C>T (n.868-6188C>T) c.862-6188C>T (n.862-6188C>T) c.559C>T (p.Pro187Ser) c.61-6188C>T (n.61-6188C>T) c.442-6188C>T (n.442-6188C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760847C>A | CA351067121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>A (n.856-6187C>A) c.868-6187C>A (n.868-6187C>A) c.862-6187C>A (n.862-6187C>A) c.560C>A (p.Pro187His) c.61-6187C>A (n.61-6187C>A) c.442-6187C>A (n.442-6187C>A) | gnomAD v4 |
2 | g.233760847C>G | CA351067123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>G (n.856-6187C>G) c.868-6187C>G (n.868-6187C>G) c.862-6187C>G (n.862-6187C>G) c.560C>G (p.Pro187Arg) c.61-6187C>G (n.61-6187C>G) c.442-6187C>G (n.442-6187C>G) | gnomAD v4 |
2 | g.233760847C>T | CA351067124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>T (n.856-6187C>T) c.868-6187C>T (n.868-6187C>T) c.862-6187C>T (n.862-6187C>T) c.560C>T (p.Pro187Leu) c.61-6187C>T (n.61-6187C>T) c.442-6187C>T (n.442-6187C>T) | |
2 | g.233760848C>A | CA431960582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>A (n.856-6186C>A) c.868-6186C>A (n.868-6186C>A) c.862-6186C>A (n.862-6186C>A) c.561C>A (p.Pro187=) c.61-6186C>A (n.61-6186C>A) c.442-6186C>A (n.442-6186C>A) | |
2 | g.233760848C= | CA1335889542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C= (n.856-6186C=) c.868-6186C= (n.868-6186C=) c.862-6186C= (n.862-6186C=) c.561C= (p.Pro187=) c.61-6186C= (n.61-6186C=) c.442-6186C= (n.442-6186C=) | |
2 | g.233760848C>G | CA431960583 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>G (n.856-6186C>G) c.868-6186C>G (n.868-6186C>G) c.862-6186C>G (n.862-6186C>G) c.561C>G (p.Pro187=) c.61-6186C>G (n.61-6186C>G) c.442-6186C>G (n.442-6186C>G) | |
2 | g.233760848C>T | CA431960584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>T (n.856-6186C>T) c.868-6186C>T (n.868-6186C>T) c.862-6186C>T (n.862-6186C>T) c.561C>T (p.Pro187=) c.61-6186C>T (n.61-6186C>T) c.442-6186C>T (n.442-6186C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760849A>C | CA351067126 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>C (n.856-6185A>C) c.868-6185A>C (n.868-6185A>C) c.862-6185A>C (n.862-6185A>C) c.562A>C (p.Asn188His) c.61-6185A>C (n.61-6185A>C) c.442-6185A>C (n.442-6185A>C) | |
2 | g.233760849A>G | CA351067127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>G (n.856-6185A>G) c.868-6185A>G (n.868-6185A>G) c.862-6185A>G (n.862-6185A>G) c.562A>G (p.Asn188Asp) c.61-6185A>G (n.61-6185A>G) c.442-6185A>G (n.442-6185A>G) | |
2 | g.233760849A>T | CA351067130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>T (n.856-6185A>T) c.868-6185A>T (n.868-6185A>T) c.862-6185A>T (n.862-6185A>T) c.562A>T (p.Asn188Tyr) c.61-6185A>T (n.61-6185A>T) c.442-6185A>T (n.442-6185A>T) | |
2 | g.233760850A= | CA1335889545 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A= (n.856-6184A=) c.868-6184A= (n.868-6184A=) c.862-6184A= (n.862-6184A=) c.563A= (p.Asn188=) c.61-6184A= (n.61-6184A=) c.442-6184A= (n.442-6184A=) | |
2 | g.233760850A>C | CA351067132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>C (n.856-6184A>C) c.868-6184A>C (n.868-6184A>C) c.862-6184A>C (n.862-6184A>C) c.563A>C (p.Asn188Thr) c.61-6184A>C (n.61-6184A>C) c.442-6184A>C (n.442-6184A>C) | |
2 | g.233760850A>G | CA351067134 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>G (n.856-6184A>G) c.868-6184A>G (n.868-6184A>G) c.862-6184A>G (n.862-6184A>G) c.563A>G (p.Asn188Ser) c.61-6184A>G (n.61-6184A>G) c.442-6184A>G (n.442-6184A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760850A>T | CA351067136 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>T (n.856-6184A>T) c.868-6184A>T (n.868-6184A>T) c.862-6184A>T (n.862-6184A>T) c.563A>T (p.Asn188Ile) c.61-6184A>T (n.61-6184A>T) c.442-6184A>T (n.442-6184A>T) | dbSNP gnomAD v2 |
2 | g.233760851C>A | CA351067139 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>A (n.856-6183C>A) c.868-6183C>A (n.868-6183C>A) c.862-6183C>A (n.862-6183C>A) c.564C>A (p.Asn188Lys) c.61-6183C>A (n.61-6183C>A) c.442-6183C>A (n.442-6183C>A) | dbSNP |
2 | g.233760851C= | CA1335889547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C= (n.856-6183C=) c.868-6183C= (n.868-6183C=) c.862-6183C= (n.862-6183C=) c.564C= (p.Asn188=) c.61-6183C= (n.61-6183C=) c.442-6183C= (n.442-6183C=) | |
2 | g.233760851C>G | CA351067141 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>G (n.856-6183C>G) c.868-6183C>G (n.868-6183C>G) c.862-6183C>G (n.862-6183C>G) c.564C>G (p.Asn188Lys) c.61-6183C>G (n.61-6183C>G) c.442-6183C>G (n.442-6183C>G) | |
2 | g.233760851C>T | CA431960589 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>T (n.856-6183C>T) c.868-6183C>T (n.868-6183C>T) c.862-6183C>T (n.862-6183C>T) c.564C>T (p.Asn188=) c.61-6183C>T (n.61-6183C>T) c.442-6183C>T (n.442-6183C>T) | dbSNP |
2 | g.233760852C>A | CA2179843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>A (n.856-6182C>A) c.868-6182C>A (n.868-6182C>A) c.862-6182C>A (n.862-6182C>A) c.565C>A (p.Pro189Thr) c.61-6182C>A (n.61-6182C>A) c.442-6182C>A (n.442-6182C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.233760852C= | CA1335889549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C= (n.856-6182C=) c.868-6182C= (n.868-6182C=) c.862-6182C= (n.862-6182C=) c.565C= (p.Pro189=) c.61-6182C= (n.61-6182C=) c.442-6182C= (n.442-6182C=) | |
2 | g.233760852C>G | CA351067145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>G (n.856-6182C>G) c.868-6182C>G (n.868-6182C>G) c.862-6182C>G (n.862-6182C>G) c.565C>G (p.Pro189Ala) c.61-6182C>G (n.61-6182C>G) c.442-6182C>G (n.442-6182C>G) | |
2 | g.233760852C>T | CA351067143 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>T (n.856-6182C>T) c.868-6182C>T (n.868-6182C>T) c.862-6182C>T (n.862-6182C>T) c.565C>T (p.Pro189Ser) c.61-6182C>T (n.61-6182C>T) c.442-6182C>T (n.442-6182C>T) | |
2 | g.233760853C>A | CA351067150 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>A (n.856-6181C>A) c.868-6181C>A (n.868-6181C>A) c.862-6181C>A (n.862-6181C>A) c.566C>A (p.Pro189Gln) c.61-6181C>A (n.61-6181C>A) c.442-6181C>A (n.442-6181C>A) | |
2 | g.233760853C>G | CA351067148 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>G (n.856-6181C>G) c.868-6181C>G (n.868-6181C>G) c.862-6181C>G (n.862-6181C>G) c.566C>G (p.Pro189Arg) c.61-6181C>G (n.61-6181C>G) c.442-6181C>G (n.442-6181C>G) | |
2 | g.233760853C>T | CA351067151 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>T (n.856-6181C>T) c.868-6181C>T (n.868-6181C>T) c.862-6181C>T (n.862-6181C>T) c.566C>T (p.Pro189Leu) c.61-6181C>T (n.61-6181C>T) c.442-6181C>T (n.442-6181C>T) |