Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760705del | CA2582342832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329del (n.856-6329del) c.868-6329del (n.868-6329del) c.862-6329del (n.862-6329del) c.418del (p.Leu140TrpfsTer10) c.61-6329del (n.61-6329del) c.442-6329del (n.442-6329del) | |
2 | g.233760705C>A | CA351066632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>A (n.856-6329C>A) c.868-6329C>A (n.868-6329C>A) c.862-6329C>A (n.862-6329C>A) c.418C>A (p.Leu140Met) c.61-6329C>A (n.61-6329C>A) c.442-6329C>A (n.442-6329C>A) | |
2 | g.233760705C>G | CA351066633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>G (n.856-6329C>G) c.868-6329C>G (n.868-6329C>G) c.862-6329C>G (n.862-6329C>G) c.418C>G (p.Leu140Val) c.61-6329C>G (n.61-6329C>G) c.442-6329C>G (n.442-6329C>G) | |
2 | g.233760705C>T | CA431960417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>T (n.856-6329C>T) c.868-6329C>T (n.868-6329C>T) c.862-6329C>T (n.862-6329C>T) c.418C>T (p.Leu140=) c.61-6329C>T (n.61-6329C>T) c.442-6329C>T (n.442-6329C>T) | gnomAD v4 |
2 | g.233760706T>A | CA351066634 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>A (n.856-6328T>A) c.868-6328T>A (n.868-6328T>A) c.862-6328T>A (n.862-6328T>A) c.419T>A (p.Leu140Gln) c.61-6328T>A (n.61-6328T>A) c.442-6328T>A (n.442-6328T>A) | |
2 | g.233760706T>C | CA351066635 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>C (n.856-6328T>C) c.868-6328T>C (n.868-6328T>C) c.862-6328T>C (n.862-6328T>C) c.419T>C (p.Leu140Pro) c.61-6328T>C (n.61-6328T>C) c.442-6328T>C (n.442-6328T>C) | |
2 | g.233760706T>G | CA351066636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>G (n.856-6328T>G) c.868-6328T>G (n.868-6328T>G) c.862-6328T>G (n.862-6328T>G) c.419T>G (p.Leu140Arg) c.61-6328T>G (n.61-6328T>G) c.442-6328T>G (n.442-6328T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760706T= | CA1335889354 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T= (n.856-6328T=) c.868-6328T= (n.868-6328T=) c.862-6328T= (n.862-6328T=) c.419T= (p.Leu140=) c.61-6328T= (n.61-6328T=) c.442-6328T= (n.442-6328T=) | |
2 | g.233760707G>A | CA67589934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>A (n.856-6327G>A) c.868-6327G>A (n.868-6327G>A) c.862-6327G>A (n.862-6327G>A) c.420G>A (p.Leu140=) c.61-6327G>A (n.61-6327G>A) c.442-6327G>A (n.442-6327G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760707G>C | CA431960419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>C (n.856-6327G>C) c.868-6327G>C (n.868-6327G>C) c.862-6327G>C (n.862-6327G>C) c.420G>C (p.Leu140=) c.61-6327G>C (n.61-6327G>C) c.442-6327G>C (n.442-6327G>C) | |
2 | g.233760707G= | CA1335889356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G= (n.856-6327G=) c.868-6327G= (n.868-6327G=) c.862-6327G= (n.862-6327G=) c.420G= (p.Leu140=) c.61-6327G= (n.61-6327G=) c.442-6327G= (n.442-6327G=) | |
2 | g.233760707G>T | CA431960418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>T (n.856-6327G>T) c.868-6327G>T (n.868-6327G>T) c.862-6327G>T (n.862-6327G>T) c.420G>T (p.Leu140=) c.61-6327G>T (n.61-6327G>T) c.442-6327G>T (n.442-6327G>T) | |
2 | g.233760708G>A | CA351066637 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>A (n.856-6326G>A) c.868-6326G>A (n.868-6326G>A) c.862-6326G>A (n.862-6326G>A) c.421G>A (p.Ala141Thr) c.61-6326G>A (n.61-6326G>A) c.442-6326G>A (n.442-6326G>A) | gnomAD v4 |
2 | g.233760708G>C | CA351066638 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>C (n.856-6326G>C) c.868-6326G>C (n.868-6326G>C) c.862-6326G>C (n.862-6326G>C) c.421G>C (p.Ala141Pro) c.61-6326G>C (n.61-6326G>C) c.442-6326G>C (n.442-6326G>C) | |
2 | g.233760708G>T | CA351066639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>T (n.856-6326G>T) c.868-6326G>T (n.868-6326G>T) c.862-6326G>T (n.862-6326G>T) c.421G>T (p.Ala141Ser) c.61-6326G>T (n.61-6326G>T) c.442-6326G>T (n.442-6326G>T) | |
2 | g.233760709C>A | CA2179823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>A (n.856-6325C>A) c.868-6325C>A (n.868-6325C>A) c.862-6325C>A (n.862-6325C>A) c.422C>A (p.Ala141Glu) c.61-6325C>A (n.61-6325C>A) c.442-6325C>A (n.442-6325C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760709C= | CA1335889359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C= (n.856-6325C=) c.868-6325C= (n.868-6325C=) c.862-6325C= (n.862-6325C=) c.422C= (p.Ala141=) c.61-6325C= (n.61-6325C=) c.442-6325C= (n.442-6325C=) | |
2 | g.233760709C>G | CA351066641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>G (n.856-6325C>G) c.868-6325C>G (n.868-6325C>G) c.862-6325C>G (n.862-6325C>G) c.422C>G (p.Ala141Gly) c.61-6325C>G (n.61-6325C>G) c.442-6325C>G (n.442-6325C>G) | |
2 | g.233760709C>T | CA351066640 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>T (n.856-6325C>T) c.868-6325C>T (n.868-6325C>T) c.862-6325C>T (n.862-6325C>T) c.422C>T (p.Ala141Val) c.61-6325C>T (n.61-6325C>T) c.442-6325C>T (n.442-6325C>T) | |
2 | g.233760710A>C | CA431960420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>C (n.856-6324A>C) c.868-6324A>C (n.868-6324A>C) c.862-6324A>C (n.862-6324A>C) c.423A>C (p.Ala141=) c.61-6324A>C (n.61-6324A>C) c.442-6324A>C (n.442-6324A>C) | |
2 | g.233760710A>G | CA431960422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>G (n.856-6324A>G) c.868-6324A>G (n.868-6324A>G) c.862-6324A>G (n.862-6324A>G) c.423A>G (p.Ala141=) c.61-6324A>G (n.61-6324A>G) c.442-6324A>G (n.442-6324A>G) | |
2 | g.233760710A>T | CA431960421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>T (n.856-6324A>T) c.868-6324A>T (n.868-6324A>T) c.862-6324A>T (n.862-6324A>T) c.423A>T (p.Ala141=) c.61-6324A>T (n.61-6324A>T) c.442-6324A>T (n.442-6324A>T) | |
2 | g.233760711G>A | CA351066642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>A (n.856-6323G>A) c.868-6323G>A (n.868-6323G>A) c.862-6323G>A (n.862-6323G>A) c.424G>A (p.Glu142Lys) c.61-6323G>A (n.61-6323G>A) c.442-6323G>A (n.442-6323G>A) | |
2 | g.233760711G>C | CA351066643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>C (n.856-6323G>C) c.868-6323G>C (n.868-6323G>C) c.862-6323G>C (n.862-6323G>C) c.424G>C (p.Glu142Gln) c.61-6323G>C (n.61-6323G>C) c.442-6323G>C (n.442-6323G>C) | |
2 | g.233760711G>T | CA351066644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>T (n.856-6323G>T) c.868-6323G>T (n.868-6323G>T) c.862-6323G>T (n.862-6323G>T) c.424G>T (p.Glu142Ter) c.61-6323G>T (n.61-6323G>T) c.442-6323G>T (n.442-6323G>T) | |
2 | g.233760712A>C | CA351066645 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>C (n.856-6322A>C) c.868-6322A>C (n.868-6322A>C) c.862-6322A>C (n.862-6322A>C) c.425A>C (p.Glu142Ala) c.61-6322A>C (n.61-6322A>C) c.442-6322A>C (n.442-6322A>C) | |
2 | g.233760712A>G | CA351066646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>G (n.856-6322A>G) c.868-6322A>G (n.868-6322A>G) c.862-6322A>G (n.862-6322A>G) c.425A>G (p.Glu142Gly) c.61-6322A>G (n.61-6322A>G) c.442-6322A>G (n.442-6322A>G) | |
2 | g.233760712A>T | CA351066647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>T (n.856-6322A>T) c.868-6322A>T (n.868-6322A>T) c.862-6322A>T (n.862-6322A>T) c.425A>T (p.Glu142Val) c.61-6322A>T (n.61-6322A>T) c.442-6322A>T (n.442-6322A>T) | |
2 | g.233760713A= | CA1335889362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A= (n.856-6321A=) c.868-6321A= (n.868-6321A=) c.862-6321A= (n.862-6321A=) c.426A= (p.Glu142=) c.61-6321A= (n.61-6321A=) c.442-6321A= (n.442-6321A=) | |
2 | g.233760713A>C | CA351066648 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>C (n.856-6321A>C) c.868-6321A>C (n.868-6321A>C) c.862-6321A>C (n.862-6321A>C) c.426A>C (p.Glu142Asp) c.61-6321A>C (n.61-6321A>C) c.442-6321A>C (n.442-6321A>C) | |
2 | g.233760713A>G | CA431960423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>G (n.856-6321A>G) c.868-6321A>G (n.868-6321A>G) c.862-6321A>G (n.862-6321A>G) c.426A>G (p.Glu142=) c.61-6321A>G (n.61-6321A>G) c.442-6321A>G (n.442-6321A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760713A>T | CA351066649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>T (n.856-6321A>T) c.868-6321A>T (n.868-6321A>T) c.862-6321A>T (n.862-6321A>T) c.426A>T (p.Glu142Asp) c.61-6321A>T (n.61-6321A>T) c.442-6321A>T (n.442-6321A>T) | |
2 | g.233760714A>C | CA351066650 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>C (n.856-6320A>C) c.868-6320A>C (n.868-6320A>C) c.862-6320A>C (n.862-6320A>C) c.427A>C (p.Ser143Arg) c.61-6320A>C (n.61-6320A>C) c.442-6320A>C (n.442-6320A>C) | |
2 | g.233760714A>G | CA351066651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>G (n.856-6320A>G) c.868-6320A>G (n.868-6320A>G) c.862-6320A>G (n.862-6320A>G) c.427A>G (p.Ser143Gly) c.61-6320A>G (n.61-6320A>G) c.442-6320A>G (n.442-6320A>G) | gnomAD v4 |
2 | g.233760714A>T | CA351066652 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>T (n.856-6320A>T) c.868-6320A>T (n.868-6320A>T) c.862-6320A>T (n.862-6320A>T) c.427A>T (p.Ser143Cys) c.61-6320A>T (n.61-6320A>T) c.442-6320A>T (n.442-6320A>T) | |
2 | g.233760715G>A | CA351066653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>A (n.856-6319G>A) c.868-6319G>A (n.868-6319G>A) c.862-6319G>A (n.862-6319G>A) c.428G>A (p.Ser143Asn) c.61-6319G>A (n.61-6319G>A) c.442-6319G>A (n.442-6319G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.233760715G>C | CA351066654 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>C (n.856-6319G>C) c.868-6319G>C (n.868-6319G>C) c.862-6319G>C (n.862-6319G>C) c.428G>C (p.Ser143Thr) c.61-6319G>C (n.61-6319G>C) c.442-6319G>C (n.442-6319G>C) | |
2 | g.233760715G= | CA1335889365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G= (n.856-6319G=) c.868-6319G= (n.868-6319G=) c.862-6319G= (n.862-6319G=) c.428G= (p.Ser143=) c.61-6319G= (n.61-6319G=) c.442-6319G= (n.442-6319G=) | |
2 | g.233760715G>T | CA351066655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>T (n.856-6319G>T) c.868-6319G>T (n.868-6319G>T) c.862-6319G>T (n.862-6319G>T) c.428G>T (p.Ser143Ile) c.61-6319G>T (n.61-6319G>T) c.442-6319G>T (n.442-6319G>T) | |
2 | g.233760716C>A | CA351066656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>A (n.856-6318C>A) c.868-6318C>A (n.868-6318C>A) c.862-6318C>A (n.862-6318C>A) c.429C>A (p.Ser143Arg) c.61-6318C>A (n.61-6318C>A) c.442-6318C>A (n.442-6318C>A) | COSMIC COSMIC |
2 | g.233760716C= | CA1335889367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C= (n.856-6318C=) c.868-6318C= (n.868-6318C=) c.862-6318C= (n.862-6318C=) c.429C= (p.Ser143=) c.61-6318C= (n.61-6318C=) c.442-6318C= (n.442-6318C=) | |
2 | g.233760716C>G | CA351066657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>G (n.856-6318C>G) c.868-6318C>G (n.868-6318C>G) c.862-6318C>G (n.862-6318C>G) c.429C>G (p.Ser143Arg) c.61-6318C>G (n.61-6318C>G) c.442-6318C>G (n.442-6318C>G) | |
2 | g.233760716C>T | CA431960424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>T (n.856-6318C>T) c.868-6318C>T (n.868-6318C>T) c.862-6318C>T (n.862-6318C>T) c.429C>T (p.Ser143=) c.61-6318C>T (n.61-6318C>T) c.442-6318C>T (n.442-6318C>T) | dbSNP gnomAD v4 |
2 | g.233760717A>C | CA351066658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>C (n.856-6317A>C) c.868-6317A>C (n.868-6317A>C) c.862-6317A>C (n.862-6317A>C) c.430A>C (p.Ser144Arg) c.61-6317A>C (n.61-6317A>C) c.442-6317A>C (n.442-6317A>C) | |
2 | g.233760717A>G | CA351066659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>G (n.856-6317A>G) c.868-6317A>G (n.868-6317A>G) c.862-6317A>G (n.862-6317A>G) c.430A>G (p.Ser144Gly) c.61-6317A>G (n.61-6317A>G) c.442-6317A>G (n.442-6317A>G) | |
2 | g.233760717A>T | CA351066660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>T (n.856-6317A>T) c.868-6317A>T (n.868-6317A>T) c.862-6317A>T (n.862-6317A>T) c.430A>T (p.Ser144Cys) c.61-6317A>T (n.61-6317A>T) c.442-6317A>T (n.442-6317A>T) | |
2 | g.233760718G>A | CA351066661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>A (n.856-6316G>A) c.868-6316G>A (n.868-6316G>A) c.862-6316G>A (n.862-6316G>A) c.431G>A (p.Ser144Asn) c.61-6316G>A (n.61-6316G>A) c.442-6316G>A (n.442-6316G>A) | |
2 | g.233760718G>C | CA351066662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>C (n.856-6316G>C) c.868-6316G>C (n.868-6316G>C) c.862-6316G>C (n.862-6316G>C) c.431G>C (p.Ser144Thr) c.61-6316G>C (n.61-6316G>C) c.442-6316G>C (n.442-6316G>C) | |
2 | g.233760718G= | CA1335889369 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G= (n.856-6316G=) c.868-6316G= (n.868-6316G=) c.862-6316G= (n.862-6316G=) c.431G= (p.Ser144=) c.61-6316G= (n.61-6316G=) c.442-6316G= (n.442-6316G=) | |
2 | g.233760718G>T | CA351066663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>T (n.856-6316G>T) c.868-6316G>T (n.868-6316G>T) c.862-6316G>T (n.862-6316G>T) c.431G>T (p.Ser144Ile) c.61-6316G>T (n.61-6316G>T) c.442-6316G>T (n.442-6316G>T) | dbSNP |