Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.233760719C>A | CA351066664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>A (n.856-6315C>A) c.868-6315C>A (n.868-6315C>A) c.862-6315C>A (n.862-6315C>A) c.432C>A (p.Ser144Arg) c.61-6315C>A (n.61-6315C>A) c.442-6315C>A (n.442-6315C>A) | gnomAD v4 |
2 | g.233760719C>G | CA351066665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>G (n.856-6315C>G) c.868-6315C>G (n.868-6315C>G) c.862-6315C>G (n.862-6315C>G) c.432C>G (p.Ser144Arg) c.61-6315C>G (n.61-6315C>G) c.442-6315C>G (n.442-6315C>G) | |
2 | g.233760719C>T | CA431960425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>T (n.856-6315C>T) c.868-6315C>T (n.868-6315C>T) c.862-6315C>T (n.862-6315C>T) c.432C>T (p.Ser144=) c.61-6315C>T (n.61-6315C>T) c.442-6315C>T (n.442-6315C>T) | |
2 | g.233760720T>A | CA351066666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>A (n.856-6314T>A) c.868-6314T>A (n.868-6314T>A) c.862-6314T>A (n.862-6314T>A) c.433T>A (p.Phe145Ile) c.61-6314T>A (n.61-6314T>A) c.442-6314T>A (n.442-6314T>A) | |
2 | g.233760720T>C | CA351066667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>C (n.856-6314T>C) c.868-6314T>C (n.868-6314T>C) c.862-6314T>C (n.862-6314T>C) c.433T>C (p.Phe145Leu) c.61-6314T>C (n.61-6314T>C) c.442-6314T>C (n.442-6314T>C) | |
2 | g.233760720T>G | CA351066668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>G (n.856-6314T>G) c.868-6314T>G (n.868-6314T>G) c.862-6314T>G (n.862-6314T>G) c.433T>G (p.Phe145Val) c.61-6314T>G (n.61-6314T>G) c.442-6314T>G (n.442-6314T>G) | COSMIC |
2 | g.233760721T>A | CA351066669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>A (n.856-6313T>A) c.868-6313T>A (n.868-6313T>A) c.862-6313T>A (n.862-6313T>A) c.434T>A (p.Phe145Tyr) c.61-6313T>A (n.61-6313T>A) c.442-6313T>A (n.442-6313T>A) | |
2 | g.233760721T>C | CA351066671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>C (n.856-6313T>C) c.868-6313T>C (n.868-6313T>C) c.862-6313T>C (n.862-6313T>C) c.434T>C (p.Phe145Ser) c.61-6313T>C (n.61-6313T>C) c.442-6313T>C (n.442-6313T>C) | |
2 | g.233760721T>G | CA351066670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>G (n.856-6313T>G) c.868-6313T>G (n.868-6313T>G) c.862-6313T>G (n.862-6313T>G) c.434T>G (p.Phe145Cys) c.61-6313T>G (n.61-6313T>G) c.442-6313T>G (n.442-6313T>G) | |
2 | g.233760722T>A | CA351066672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>A (n.856-6312T>A) c.868-6312T>A (n.868-6312T>A) c.862-6312T>A (n.862-6312T>A) c.435T>A (p.Phe145Leu) c.61-6312T>A (n.61-6312T>A) c.442-6312T>A (n.442-6312T>A) | |
2 | g.233760722T>C | CA431960426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>C (n.856-6312T>C) c.868-6312T>C (n.868-6312T>C) c.862-6312T>C (n.862-6312T>C) c.435T>C (p.Phe145=) c.61-6312T>C (n.61-6312T>C) c.442-6312T>C (n.442-6312T>C) | |
2 | g.233760722T>G | CA351066673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>G (n.856-6312T>G) c.868-6312T>G (n.868-6312T>G) c.862-6312T>G (n.862-6312T>G) c.435T>G (p.Phe145Leu) c.61-6312T>G (n.61-6312T>G) c.442-6312T>G (n.442-6312T>G) | |
2 | g.233760723G>A | CA351066674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>A (n.856-6311G>A) c.868-6311G>A (n.868-6311G>A) c.862-6311G>A (n.862-6311G>A) c.436G>A (p.Asp146Asn) c.61-6311G>A (n.61-6311G>A) c.442-6311G>A (n.442-6311G>A) | |
2 | g.233760723G>C | CA351066675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>C (n.856-6311G>C) c.868-6311G>C (n.868-6311G>C) c.862-6311G>C (n.862-6311G>C) c.436G>C (p.Asp146His) c.61-6311G>C (n.61-6311G>C) c.442-6311G>C (n.442-6311G>C) | |
2 | g.233760723G>T | CA351066676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>T (n.856-6311G>T) c.868-6311G>T (n.868-6311G>T) c.862-6311G>T (n.862-6311G>T) c.436G>T (p.Asp146Tyr) c.61-6311G>T (n.61-6311G>T) c.442-6311G>T (n.442-6311G>T) | |
2 | g.233760724A>C | CA351066677 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>C (n.856-6310A>C) c.868-6310A>C (n.868-6310A>C) c.862-6310A>C (n.862-6310A>C) c.437A>C (p.Asp146Ala) c.61-6310A>C (n.61-6310A>C) c.442-6310A>C (n.442-6310A>C) | |
2 | g.233760724A>G | CA351066678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>G (n.856-6310A>G) c.868-6310A>G (n.868-6310A>G) c.862-6310A>G (n.862-6310A>G) c.437A>G (p.Asp146Gly) c.61-6310A>G (n.61-6310A>G) c.442-6310A>G (n.442-6310A>G) | |
2 | g.233760724A>T | CA351066679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>T (n.856-6310A>T) c.868-6310A>T (n.868-6310A>T) c.862-6310A>T (n.862-6310A>T) c.437A>T (p.Asp146Val) c.61-6310A>T (n.61-6310A>T) c.442-6310A>T (n.442-6310A>T) | |
2 | g.233760725T>A | CA351066680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>A (n.856-6309T>A) c.868-6309T>A (n.868-6309T>A) c.862-6309T>A (n.862-6309T>A) c.438T>A (p.Asp146Glu) c.61-6309T>A (n.61-6309T>A) c.442-6309T>A (n.442-6309T>A) | |
2 | g.233760725T>C | CA431960427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>C (n.856-6309T>C) c.868-6309T>C (n.868-6309T>C) c.862-6309T>C (n.862-6309T>C) c.438T>C (p.Asp146=) c.61-6309T>C (n.61-6309T>C) c.442-6309T>C (n.442-6309T>C) | |
2 | g.233760725T>G | CA351066681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>G (n.856-6309T>G) c.868-6309T>G (n.868-6309T>G) c.862-6309T>G (n.862-6309T>G) c.438T>G (p.Asp146Glu) c.61-6309T>G (n.61-6309T>G) c.442-6309T>G (n.442-6309T>G) | |
2 | g.233760726G>A | CA351066682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>A (n.856-6308G>A) c.868-6308G>A (n.868-6308G>A) c.862-6308G>A (n.862-6308G>A) c.439G>A (p.Val147Ile) c.61-6308G>A (n.61-6308G>A) c.442-6308G>A (n.442-6308G>A) | |
2 | g.233760726G>C | CA351066683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>C (n.856-6308G>C) c.868-6308G>C (n.868-6308G>C) c.862-6308G>C (n.862-6308G>C) c.439G>C (p.Val147Leu) c.61-6308G>C (n.61-6308G>C) c.442-6308G>C (n.442-6308G>C) | |
2 | g.233760726G>T | CA351066684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>T (n.856-6308G>T) c.868-6308G>T (n.868-6308G>T) c.862-6308G>T (n.862-6308G>T) c.439G>T (p.Val147Phe) c.61-6308G>T (n.61-6308G>T) c.442-6308G>T (n.442-6308G>T) | |
2 | g.233760727T>A | CA351066687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>A (n.856-6307T>A) c.868-6307T>A (n.868-6307T>A) c.862-6307T>A (n.862-6307T>A) c.440T>A (p.Val147Asp) c.61-6307T>A (n.61-6307T>A) c.442-6307T>A (n.442-6307T>A) | |
2 | g.233760727T>C | CA351066685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>C (n.856-6307T>C) c.868-6307T>C (n.868-6307T>C) c.862-6307T>C (n.862-6307T>C) c.440T>C (p.Val147Ala) c.61-6307T>C (n.61-6307T>C) c.442-6307T>C (n.442-6307T>C) | |
2 | g.233760727T>G | CA351066686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>G (n.856-6307T>G) c.868-6307T>G (n.868-6307T>G) c.862-6307T>G (n.862-6307T>G) c.440T>G (p.Val147Gly) c.61-6307T>G (n.61-6307T>G) c.442-6307T>G (n.442-6307T>G) | gnomAD v4 |
2 | g.233760728C>A | CA431960429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>A (n.856-6306C>A) c.868-6306C>A (n.868-6306C>A) c.862-6306C>A (n.862-6306C>A) c.441C>A (p.Val147=) c.61-6306C>A (n.61-6306C>A) c.442-6306C>A (n.442-6306C>A) | COSMIC |