Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760808C>ACA351066954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760808C>GCA351066956UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760808C>TCA351066958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760809A=CA1335889498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760809A>CCA431960493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760809A>GCA431960491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760809A>TCA431960496UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760810C>ACA351066960UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760810C>GCA351066962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760810C>TCA431960497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760811T>ACA122102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760811T>CCA351066964UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760811T>GCA351066965UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760811T=CA1335889502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760812G>ACA431960501UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760812G>CCA431960500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760812G>TCA431960502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760813C>ACA351066967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760813C>GCA351066968UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760813C>TCA351066970UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760814C>ACA351066975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760814C>GCA351066977UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760814C>TCA351066973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760815A>CCA431960507UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760815A>GCA431960508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760815A>TCA431960506UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760816T>ACA351066979UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760816T>CCA2179839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760816T>GCA351066980UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760816T=CA1335889506UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760817G>ACA351066981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760817G>CCA351066982UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760817G=CA1335889510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760817G>TCA351066984UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760818C>ACA351066988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760818C>GCA351066990UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760818C>TCA431960512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760819A=CA1335889513UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760819A>CCA351066992UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760819A>GCA351066994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760819A>TCA351066995UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760820G>ACA351067000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760820G>CCA351067002UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760820G=CA1335889516UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760820G>TCA351066998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760821C>ACA351067004UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760821C>GCA351067006UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760821C>TCA431960516UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760822C>ACA351067008UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760822C>GCA351067010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760822C>TCA431960522UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760823T>ACA351067017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760823T>CCA351067015UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760823T>GCA351067013UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760823T=CA1335889521UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760824G>ACA431960529UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760824G>CCA431960535UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760824G>TCA431960531UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760825G>ACA351067020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760825G>CCA351067021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760825G=CA1335889523UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760825G>TCA351067022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760826A>CCA351067023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760826A>GCA351067024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760826A>TCA351067026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760827A=CA1335889528UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760827A>CCA351067031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760827A>GCA2179840UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760827A>TCA351067027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760828T>ACA351067034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760828T>CCA351067036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760828T>GCA351067039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760829T>ACA351067041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760829T>CCA351067043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760829T>GCA351067045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760830T>ACA351067049UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760830T>CCA431960543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760830T>GCA351067047UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760831G>ACA351067051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760831G>CCA351067052UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760831G>TCA351067053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760832A>CCA351067057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760832A>GCA351067059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760832A>TCA351067060UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760833G>ACA2179841UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760833G>CCA351067063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760833G=CA1335889534UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760833G>TCA351067064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760834G>ACA351067066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760834G>CCA351067067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760834G>TCA351067069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760835C>ACA351067071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760835C>GCA351067073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760835C>TCA351067075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760836T>ACA431960561UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760836T>CCA431960559UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760836T>GCA431960560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760837A=CA1335889537UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760837A>CCA351067078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760837A>GCA351067080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760837A>TCA351067082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760838C>ACA351067085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760838C>GCA351067087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760838C>TCA351067089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760839C>ACA431960568UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760839C>GCA431960566UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760839C>TCA431960567UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760840C>ACA351067091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760840C>GCA351067095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760840C>TCA351067093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760841A>CCA351067097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760841A>GCA351067101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760841A>TCA351067103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760842G>ACA431960570UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760842G>CCA351067104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760842G>TCA351067105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760843T>ACA351067106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760843T>CCA351067107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760843T>GCA351067108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760844G>ACA351067109UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760844G>CCA351067110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760844G>TCA351067112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760845C>ACA351067115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760845C>GCA351067117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760845C>TCA431960577UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760847_233760848delCA2663717464UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760846C>ACA351067119UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760846C=CA1335889538UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760846C>GCA2179842UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760846C>TCA351067120UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760847C>ACA351067121UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760847C>GCA351067123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760847C>TCA351067124UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760848C>ACA431960582UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760848C=CA1335889542UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760848C>GCA431960583UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760848C>TCA431960584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760849A>CCA351067126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760849A>GCA351067127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760849A>TCA351067130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760850A=CA1335889545UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760850A>CCA351067132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760850A>GCA351067134UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760850A>TCA351067136UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760851C>ACA351067139UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760851C=CA1335889547UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760851C>GCA351067141UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760851C>TCA431960589UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760852C>ACA2179843UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760852C=CA1335889549UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760852C>GCA351067145UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760852C>TCA351067143UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760853C>ACA351067150UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760853C>GCA351067148UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760853C>TCA351067151UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760854A=CA1335889551UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6180A= (n.856-6180A=)
c.868-6180A= (n.868-6180A=)
c.862-6180A= (n.862-6180A=)
c.567A= (p.Pro189=)
c.61-6180A= (n.61-6180A=)
c.442-6180A= (n.442-6180A=)
2g.233760854A>CCA431960592UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6180A>C (n.856-6180A>C)
c.868-6180A>C (n.868-6180A>C)
c.862-6180A>C (n.862-6180A>C)
c.567A>C (p.Pro189=)
c.61-6180A>C (n.61-6180A>C)
c.442-6180A>C (n.442-6180A>C)
2g.233760854A>GCA431960593UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6180A>G (n.856-6180A>G)
c.868-6180A>G (n.868-6180A>G)
c.862-6180A>G (n.862-6180A>G)
c.567A>G (p.Pro189=)
c.61-6180A>G (n.61-6180A>G)
c.442-6180A>G (n.442-6180A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760854A>TCA431960594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6180A>T (n.856-6180A>T)
c.868-6180A>T (n.868-6180A>T)
c.862-6180A>T (n.862-6180A>T)
c.567A>T (p.Pro189=)
c.61-6180A>T (n.61-6180A>T)
c.442-6180A>T (n.442-6180A>T)
2g.233760855T>ACA351067154UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6179T>A (n.856-6179T>A)
c.868-6179T>A (n.868-6179T>A)
c.862-6179T>A (n.862-6179T>A)
c.568T>A (p.Phe190Ile)
c.61-6179T>A (n.61-6179T>A)
c.442-6179T>A (n.442-6179T>A)
2g.233760855T>CCA351067155UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6179T>C (n.856-6179T>C)
c.868-6179T>C (n.868-6179T>C)
c.862-6179T>C (n.862-6179T>C)
c.568T>C (p.Phe190Leu)
c.61-6179T>C (n.61-6179T>C)
c.442-6179T>C (n.442-6179T>C)
2g.233760855T>GCA351067156UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6179T>G (n.856-6179T>G)
c.868-6179T>G (n.868-6179T>G)
c.862-6179T>G (n.862-6179T>G)
c.568T>G (p.Phe190Val)
c.61-6179T>G (n.61-6179T>G)
c.442-6179T>G (n.442-6179T>G)
2g.233760856T>ACA351067158UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6178T>A (n.856-6178T>A)
c.868-6178T>A (n.868-6178T>A)
c.862-6178T>A (n.862-6178T>A)
c.569T>A (p.Phe190Tyr)
c.61-6178T>A (n.61-6178T>A)
c.442-6178T>A (n.442-6178T>A)
2g.233760856T>CCA351067161UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6178T>C (n.856-6178T>C)
c.868-6178T>C (n.868-6178T>C)
c.862-6178T>C (n.862-6178T>C)
c.569T>C (p.Phe190Ser)
c.61-6178T>C (n.61-6178T>C)
c.442-6178T>C (n.442-6178T>C)
2g.233760856T>GCA351067163UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6178T>G (n.856-6178T>G)
c.868-6178T>G (n.868-6178T>G)
c.862-6178T>G (n.862-6178T>G)
c.569T>G (p.Phe190Cys)
c.61-6178T>G (n.61-6178T>G)
c.442-6178T>G (n.442-6178T>G)
2g.233760857C>ACA351067166UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6177C>A (n.856-6177C>A)
c.868-6177C>A (n.868-6177C>A)
c.862-6177C>A (n.862-6177C>A)
c.570C>A (p.Phe190Leu)
c.61-6177C>A (n.61-6177C>A)
c.442-6177C>A (n.442-6177C>A)
COSMIC
2g.233760857C>GCA351067168UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6177C>G (n.856-6177C>G)
c.868-6177C>G (n.868-6177C>G)
c.862-6177C>G (n.862-6177C>G)
c.570C>G (p.Phe190Leu)
c.61-6177C>G (n.61-6177C>G)
c.442-6177C>G (n.442-6177C>G)
gnomAD v4
2g.233760857C>TCA431960600UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6177C>T (n.856-6177C>T)
c.868-6177C>T (n.868-6177C>T)
c.862-6177C>T (n.862-6177C>T)
c.570C>T (p.Phe190=)
c.61-6177C>T (n.61-6177C>T)
c.442-6177C>T (n.442-6177C>T)
dbSNP
2g.233760858T>ACA351067171UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6176T>A (n.856-6176T>A)
c.868-6176T>A (n.868-6176T>A)
c.862-6176T>A (n.862-6176T>A)
c.571T>A (p.Ser191Thr)
c.61-6176T>A (n.61-6176T>A)
c.442-6176T>A (n.442-6176T>A)
2g.233760858T>CCA351067173UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6176T>C (n.856-6176T>C)
c.868-6176T>C (n.868-6176T>C)
c.862-6176T>C (n.862-6176T>C)
c.571T>C (p.Ser191Pro)
c.61-6176T>C (n.61-6176T>C)
c.442-6176T>C (n.442-6176T>C)
dbSNP gnomAD v4
2g.233760858T>GCA351067174UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6176T>G (n.856-6176T>G)
c.868-6176T>G (n.868-6176T>G)
c.862-6176T>G (n.862-6176T>G)
c.571T>G (p.Ser191Ala)
c.61-6176T>G (n.61-6176T>G)
c.442-6176T>G (n.442-6176T>G)
2g.233760858T=CA1335889554UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6176T= (n.856-6176T=)
c.868-6176T= (n.868-6176T=)
c.862-6176T= (n.862-6176T=)
c.571T= (p.Ser191=)
c.61-6176T= (n.61-6176T=)
c.442-6176T= (n.442-6176T=)
2g.233760858_233760859delinsTCCA1335889556UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6176_856-6175delinsTC (n.856-6176_856-6175delinsTC)
c.868-6176_868-6175delinsTC (n.868-6176_868-6175delinsTC)
c.862-6176_862-6175delinsTC (n.862-6176_862-6175delinsTC)
c.571_572delinsTC (p.Ser191=)
c.61-6176_61-6175delinsTC (n.61-6176_61-6175delinsTC)
c.442-6176_442-6175delinsTC (n.442-6176_442-6175delinsTC)
2g.233760859C>ACA351067184UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6175C>A (n.856-6175C>A)
c.868-6175C>A (n.868-6175C>A)
c.862-6175C>A (n.862-6175C>A)
c.572C>A (p.Ser191Tyr)
c.61-6175C>A (n.61-6175C>A)
c.442-6175C>A (n.442-6175C>A)
2g.233760859C>GCA351067182UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6175C>G (n.856-6175C>G)
c.868-6175C>G (n.868-6175C>G)
c.862-6175C>G (n.862-6175C>G)
c.572C>G (p.Ser191Cys)
c.61-6175C>G (n.61-6175C>G)
c.442-6175C>G (n.442-6175C>G)
2g.233760859C>TCA351067180UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6175C>T (n.856-6175C>T)
c.868-6175C>T (n.868-6175C>T)
c.862-6175C>T (n.862-6175C>T)
c.572C>T (p.Ser191Phe)
c.61-6175C>T (n.61-6175C>T)
c.442-6175C>T (n.442-6175C>T)
gnomAD v4
2g.233760860delCA540311594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6174del (n.856-6174del)
c.868-6174del (n.868-6174del)
c.862-6174del (n.862-6174del)
c.573del (p.Tyr192ThrfsTer13)
c.61-6174del (n.61-6174del)
c.442-6174del (n.442-6174del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760860C>ACA431960608UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6174C>A (n.856-6174C>A)
c.868-6174C>A (n.868-6174C>A)
c.862-6174C>A (n.862-6174C>A)
c.573C>A (p.Ser191=)
c.61-6174C>A (n.61-6174C>A)
c.442-6174C>A (n.442-6174C>A)
COSMIC
2g.233760860C>GCA431960607UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6174C>G (n.856-6174C>G)
c.868-6174C>G (n.868-6174C>G)
c.862-6174C>G (n.862-6174C>G)
c.573C>G (p.Ser191=)
c.61-6174C>G (n.61-6174C>G)
c.442-6174C>G (n.442-6174C>G)
2g.233760860C>TCA431960606UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6174C>T (n.856-6174C>T)
c.868-6174C>T (n.868-6174C>T)
c.862-6174C>T (n.862-6174C>T)
c.573C>T (p.Ser191=)
c.61-6174C>T (n.61-6174C>T)
c.442-6174C>T (n.442-6174C>T)
2g.233760861T>ACA351067185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>A (n.856-6173T>A)
c.868-6173T>A (n.868-6173T>A)
c.862-6173T>A (n.862-6173T>A)
c.574T>A (p.Tyr192Asn)
c.61-6173T>A (n.61-6173T>A)
c.442-6173T>A (n.442-6173T>A)
gnomAD v4
2g.233760861T>CCA2179844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>C (n.856-6173T>C)
c.868-6173T>C (n.868-6173T>C)
c.862-6173T>C (n.862-6173T>C)
c.574T>C (p.Tyr192His)
c.61-6173T>C (n.61-6173T>C)
c.442-6173T>C (n.442-6173T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760861T>GCA351067187UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>G (n.856-6173T>G)
c.868-6173T>G (n.868-6173T>G)
c.862-6173T>G (n.862-6173T>G)
c.574T>G (p.Tyr192Asp)
c.61-6173T>G (n.61-6173T>G)
c.442-6173T>G (n.442-6173T>G)
2g.233760861T=CA1335889560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T= (n.856-6173T=)
c.868-6173T= (n.868-6173T=)
c.862-6173T= (n.862-6173T=)
c.574T= (p.Tyr192=)
c.61-6173T= (n.61-6173T=)
c.442-6173T= (n.442-6173T=)
2g.233760862A=CA1335889564UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A= (n.856-6172A=)
c.868-6172A= (n.868-6172A=)
c.862-6172A= (n.862-6172A=)
c.575A= (p.Tyr192=)
c.61-6172A= (n.61-6172A=)
c.442-6172A= (n.442-6172A=)
2g.233760862A>CCA351067189UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>C (n.856-6172A>C)
c.868-6172A>C (n.868-6172A>C)
c.862-6172A>C (n.862-6172A>C)
c.575A>C (p.Tyr192Ser)
c.61-6172A>C (n.61-6172A>C)
c.442-6172A>C (n.442-6172A>C)
2g.233760862A>GCA2179845UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>G (n.856-6172A>G)
c.868-6172A>G (n.868-6172A>G)
c.862-6172A>G (n.862-6172A>G)
c.575A>G (p.Tyr192Cys)
c.61-6172A>G (n.61-6172A>G)
c.442-6172A>G (n.442-6172A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760862A>TCA351067191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>T (n.856-6172A>T)
c.868-6172A>T (n.868-6172A>T)
c.862-6172A>T (n.862-6172A>T)
c.575A>T (p.Tyr192Phe)
c.61-6172A>T (n.61-6172A>T)
c.442-6172A>T (n.442-6172A>T)
2g.233760863C>ACA351067194UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>A (n.856-6171C>A)
c.868-6171C>A (n.868-6171C>A)
c.862-6171C>A (n.862-6171C>A)
c.576C>A (p.Tyr192Ter)
c.61-6171C>A (n.61-6171C>A)
c.442-6171C>A (n.442-6171C>A)
gnomAD v4
2g.233760863C=CA1335889569UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C= (n.856-6171C=)
c.868-6171C= (n.868-6171C=)
c.862-6171C= (n.862-6171C=)
c.576C= (p.Tyr192=)
c.61-6171C= (n.61-6171C=)
c.442-6171C= (n.442-6171C=)
2g.233760863C>GCA351067200UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>G (n.856-6171C>G)
c.868-6171C>G (n.868-6171C>G)
c.862-6171C>G (n.862-6171C>G)
c.576C>G (p.Tyr192Ter)
c.61-6171C>G (n.61-6171C>G)
c.442-6171C>G (n.442-6171C>G)
2g.233760863C>TCA2179846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>T (n.856-6171C>T)
c.868-6171C>T (n.868-6171C>T)
c.862-6171C>T (n.862-6171C>T)
c.576C>T (p.Tyr192=)
c.61-6171C>T (n.61-6171C>T)
c.442-6171C>T (n.442-6171C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760864G>ACA2179847UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>A (n.856-6170G>A)
c.868-6170G>A (n.868-6170G>A)
c.862-6170G>A (n.862-6170G>A)
c.577G>A (p.Val193Met)
c.61-6170G>A (n.61-6170G>A)
c.442-6170G>A (n.442-6170G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760864G>CCA351067204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>C (n.856-6170G>C)
c.868-6170G>C (n.868-6170G>C)
c.862-6170G>C (n.862-6170G>C)
c.577G>C (p.Val193Leu)
c.61-6170G>C (n.61-6170G>C)
c.442-6170G>C (n.442-6170G>C)
gnomAD v4
2g.233760864G=CA1335889573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G= (n.856-6170G=)
c.868-6170G= (n.868-6170G=)
c.862-6170G= (n.862-6170G=)
c.577G= (p.Val193=)
c.61-6170G= (n.61-6170G=)
c.442-6170G= (n.442-6170G=)
2g.233760864G>TCA351067208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>T (n.856-6170G>T)
c.868-6170G>T (n.868-6170G>T)
c.862-6170G>T (n.862-6170G>T)
c.577G>T (p.Val193Leu)
c.61-6170G>T (n.61-6170G>T)
c.442-6170G>T (n.442-6170G>T)
COSMIC
2g.233760865T>ACA351067216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>A (n.856-6169T>A)
c.868-6169T>A (n.868-6169T>A)
c.862-6169T>A (n.862-6169T>A)
c.578T>A (p.Val193Glu)
c.61-6169T>A (n.61-6169T>A)
c.442-6169T>A (n.442-6169T>A)
ClinVar dbSNP
2g.233760865T>CCA351067213UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>C (n.856-6169T>C)
c.868-6169T>C (n.868-6169T>C)
c.862-6169T>C (n.862-6169T>C)
c.578T>C (p.Val193Ala)
c.61-6169T>C (n.61-6169T>C)
c.442-6169T>C (n.442-6169T>C)
2g.233760865T>GCA351067212UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>G (n.856-6169T>G)
c.868-6169T>G (n.868-6169T>G)
c.862-6169T>G (n.862-6169T>G)
c.578T>G (p.Val193Gly)
c.61-6169T>G (n.61-6169T>G)
c.442-6169T>G (n.442-6169T>G)
2g.233760866G>ACA431960621UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>A (n.856-6168G>A)
c.868-6168G>A (n.868-6168G>A)
c.862-6168G>A (n.862-6168G>A)
c.579G>A (p.Val193=)
c.61-6168G>A (n.61-6168G>A)
c.442-6168G>A (n.442-6168G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760866G>CCA431960622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>C (n.856-6168G>C)
c.868-6168G>C (n.868-6168G>C)
c.862-6168G>C (n.862-6168G>C)
c.579G>C (p.Val193=)
c.61-6168G>C (n.61-6168G>C)
c.442-6168G>C (n.442-6168G>C)
2g.233760866G=CA1335889579UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G= (n.856-6168G=)
c.868-6168G= (n.868-6168G=)
c.862-6168G= (n.862-6168G=)
c.579G= (p.Val193=)
c.61-6168G= (n.61-6168G=)
c.442-6168G= (n.442-6168G=)
2g.233760866G>TCA431960620UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>T (n.856-6168G>T)
c.868-6168G>T (n.868-6168G>T)
c.862-6168G>T (n.862-6168G>T)
c.579G>T (p.Val193=)
c.61-6168G>T (n.61-6168G>T)
c.442-6168G>T (n.442-6168G>T)
2g.233760867C>ACA351067220UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>A (n.856-6167C>A)
c.868-6167C>A (n.868-6167C>A)
c.862-6167C>A (n.862-6167C>A)
c.580C>A (p.Pro194Thr)
c.61-6167C>A (n.61-6167C>A)
c.442-6167C>A (n.442-6167C>A)
2g.233760867C=CA1335889585UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C= (n.856-6167C=)
c.868-6167C= (n.868-6167C=)
c.862-6167C= (n.862-6167C=)
c.580C= (p.Pro194=)
c.61-6167C= (n.61-6167C=)
c.442-6167C= (n.442-6167C=)
2g.233760867C>GCA351067222UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>G (n.856-6167C>G)
c.868-6167C>G (n.868-6167C>G)
c.862-6167C>G (n.862-6167C>G)
c.580C>G (p.Pro194Ala)
c.61-6167C>G (n.61-6167C>G)
c.442-6167C>G (n.442-6167C>G)
dbSNP
2g.233760867C>TCA67590181UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>T (n.856-6167C>T)
c.868-6167C>T (n.868-6167C>T)
c.862-6167C>T (n.862-6167C>T)
c.580C>T (p.Pro194Ser)
c.61-6167C>T (n.61-6167C>T)
c.442-6167C>T (n.442-6167C>T)
dbSNP gnomAD v4
2g.233760869delCA2586965609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165del (n.856-6165del)
c.868-6165del (n.868-6165del)
c.862-6165del (n.862-6165del)
c.582del (p.Arg195GlyfsTer10)
c.61-6165del (n.61-6165del)
c.442-6165del (n.442-6165del)
2g.233760868C>ACA351067230UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>A (n.856-6166C>A)
c.868-6166C>A (n.868-6166C>A)
c.862-6166C>A (n.862-6166C>A)
c.581C>A (p.Pro194His)
c.61-6166C>A (n.61-6166C>A)
c.442-6166C>A (n.442-6166C>A)
2g.233760868C=CA1335889589UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C= (n.856-6166C=)
c.868-6166C= (n.868-6166C=)
c.862-6166C= (n.862-6166C=)
c.581C= (p.Pro194=)
c.61-6166C= (n.61-6166C=)
c.442-6166C= (n.442-6166C=)
2g.233760868C>GCA351067233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>G (n.856-6166C>G)
c.868-6166C>G (n.868-6166C>G)
c.862-6166C>G (n.862-6166C>G)
c.581C>G (p.Pro194Arg)
c.61-6166C>G (n.61-6166C>G)
c.442-6166C>G (n.442-6166C>G)
2g.233760868C>TCA351067235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>T (n.856-6166C>T)
c.868-6166C>T (n.868-6166C>T)
c.862-6166C>T (n.862-6166C>T)
c.581C>T (p.Pro194Leu)
c.61-6166C>T (n.61-6166C>T)
c.442-6166C>T (n.442-6166C>T)
dbSNP gnomAD v4
2g.233760869C>ACA431960629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>A (n.856-6165C>A)
c.868-6165C>A (n.868-6165C>A)
c.862-6165C>A (n.862-6165C>A)
c.582C>A (p.Pro194=)
c.61-6165C>A (n.61-6165C>A)
c.442-6165C>A (n.442-6165C>A)
2g.233760869C>GCA431960630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>G (n.856-6165C>G)
c.868-6165C>G (n.868-6165C>G)
c.862-6165C>G (n.862-6165C>G)
c.582C>G (p.Pro194=)
c.61-6165C>G (n.61-6165C>G)
c.442-6165C>G (n.442-6165C>G)
2g.233760869C>TCA431960631UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>T (n.856-6165C>T)
c.868-6165C>T (n.868-6165C>T)
c.862-6165C>T (n.862-6165C>T)
c.582C>T (p.Pro194=)
c.61-6165C>T (n.61-6165C>T)
c.442-6165C>T (n.442-6165C>T)
2g.233760870A=CA1335889591UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A= (n.856-6164A=)
c.868-6164A= (n.868-6164A=)
c.862-6164A= (n.862-6164A=)
c.583A= (p.Arg195=)
c.61-6164A= (n.61-6164A=)
c.442-6164A= (n.442-6164A=)
2g.233760870A>CCA431960632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>C (n.856-6164A>C)
c.868-6164A>C (n.868-6164A>C)
c.862-6164A>C (n.862-6164A>C)
c.583A>C (p.Arg195=)
c.61-6164A>C (n.61-6164A>C)
c.442-6164A>C (n.442-6164A>C)
2g.233760870A>GCA2179848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>G (n.856-6164A>G)
c.868-6164A>G (n.868-6164A>G)
c.862-6164A>G (n.862-6164A>G)
c.583A>G (p.Arg195Gly)
c.61-6164A>G (n.61-6164A>G)
c.442-6164A>G (n.442-6164A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760870A>TCA351067247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>T (n.856-6164A>T)
c.868-6164A>T (n.868-6164A>T)
c.862-6164A>T (n.862-6164A>T)
c.583A>T (p.Arg195Trp)
c.61-6164A>T (n.61-6164A>T)
c.442-6164A>T (n.442-6164A>T)
2g.233760871G>ACA2179849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>A (n.856-6163G>A)
c.868-6163G>A (n.868-6163G>A)
c.862-6163G>A (n.862-6163G>A)
c.584G>A (p.Arg195Lys)
c.61-6163G>A (n.61-6163G>A)
c.442-6163G>A (n.442-6163G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760871G>CCA351067250UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>C (n.856-6163G>C)
c.868-6163G>C (n.868-6163G>C)
c.862-6163G>C (n.862-6163G>C)
c.584G>C (p.Arg195Thr)
c.61-6163G>C (n.61-6163G>C)
c.442-6163G>C (n.442-6163G>C)
2g.233760871G=CA1335889594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G= (n.856-6163G=)
c.868-6163G= (n.868-6163G=)
c.862-6163G= (n.862-6163G=)
c.584G= (p.Arg195=)
c.61-6163G= (n.61-6163G=)
c.442-6163G= (n.442-6163G=)
2g.233760871G>TCA351067253UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>T (n.856-6163G>T)
c.868-6163G>T (n.868-6163G>T)
c.862-6163G>T (n.862-6163G>T)
c.584G>T (p.Arg195Met)
c.61-6163G>T (n.61-6163G>T)
c.442-6163G>T (n.442-6163G>T)
2g.233760872G>ACA431960635UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>A (n.856-6162G>A)
c.868-6162G>A (n.868-6162G>A)
c.862-6162G>A (n.862-6162G>A)
c.585G>A (p.Arg195=)
c.61-6162G>A (n.61-6162G>A)
c.442-6162G>A (n.442-6162G>A)
gnomAD v4 COSMIC COSMIC
2g.233760872G>CCA351067259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>C (n.856-6162G>C)
c.868-6162G>C (n.868-6162G>C)
c.862-6162G>C (n.862-6162G>C)
c.585G>C (p.Arg195Ser)
c.61-6162G>C (n.61-6162G>C)
c.442-6162G>C (n.442-6162G>C)
gnomAD v4
2g.233760872G>TCA351067268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>T (n.856-6162G>T)
c.868-6162G>T (n.868-6162G>T)
c.862-6162G>T (n.862-6162G>T)
c.585G>T (p.Arg195Ser)
c.61-6162G>T (n.61-6162G>T)
c.442-6162G>T (n.442-6162G>T)
2g.233760873C>ACA351067271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>A (n.856-6161C>A)
c.868-6161C>A (n.868-6161C>A)
c.862-6161C>A (n.862-6161C>A)
c.586C>A (p.Pro196Thr)
c.61-6161C>A (n.61-6161C>A)
c.442-6161C>A (n.442-6161C>A)
2g.233760873C>GCA351067269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>G (n.856-6161C>G)
c.868-6161C>G (n.868-6161C>G)
c.862-6161C>G (n.862-6161C>G)
c.586C>G (p.Pro196Ala)
c.61-6161C>G (n.61-6161C>G)
c.442-6161C>G (n.442-6161C>G)
gnomAD v4
2g.233760873C>TCA351067270UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>T (n.856-6161C>T)
c.868-6161C>T (n.868-6161C>T)
c.862-6161C>T (n.862-6161C>T)
c.586C>T (p.Pro196Ser)
c.61-6161C>T (n.61-6161C>T)
c.442-6161C>T (n.442-6161C>T)
2g.233760874dupCA2754693303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160dup (n.856-6160dup)
c.868-6160dup (n.868-6160dup)
c.862-6160dup (n.862-6160dup)
c.587dup (p.Leu197SerfsTer?)
c.61-6160dup (n.61-6160dup)
c.442-6160dup (n.442-6160dup)
2g.233760874C>ACA351067274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>A (n.856-6160C>A)
c.868-6160C>A (n.868-6160C>A)
c.862-6160C>A (n.862-6160C>A)
c.587C>A (p.Pro196His)
c.61-6160C>A (n.61-6160C>A)
c.442-6160C>A (n.442-6160C>A)
2g.233760874C>GCA351067275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>G (n.856-6160C>G)
c.868-6160C>G (n.868-6160C>G)
c.862-6160C>G (n.862-6160C>G)
c.587C>G (p.Pro196Arg)
c.61-6160C>G (n.61-6160C>G)
c.442-6160C>G (n.442-6160C>G)
2g.233760874C>TCA351067280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>T (n.856-6160C>T)
c.868-6160C>T (n.868-6160C>T)
c.862-6160C>T (n.862-6160C>T)
c.587C>T (p.Pro196Leu)
c.61-6160C>T (n.61-6160C>T)
c.442-6160C>T (n.442-6160C>T)
gnomAD v4
2g.233760875T>ACA431960641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>A (n.856-6159T>A)
c.868-6159T>A (n.868-6159T>A)
c.862-6159T>A (n.862-6159T>A)
c.588T>A (p.Pro196=)
c.61-6159T>A (n.61-6159T>A)
c.442-6159T>A (n.442-6159T>A)
2g.233760875T>CCA431960642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>C (n.856-6159T>C)
c.868-6159T>C (n.868-6159T>C)
c.862-6159T>C (n.862-6159T>C)
c.588T>C (p.Pro196=)
c.61-6159T>C (n.61-6159T>C)
c.442-6159T>C (n.442-6159T>C)
2g.233760875T>GCA431960644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>G (n.856-6159T>G)
c.868-6159T>G (n.868-6159T>G)
c.862-6159T>G (n.862-6159T>G)
c.588T>G (p.Pro196=)
c.61-6159T>G (n.61-6159T>G)
c.442-6159T>G (n.442-6159T>G)
2g.233760876C>ACA351067283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>A (n.856-6158C>A)
c.868-6158C>A (n.868-6158C>A)
c.862-6158C>A (n.862-6158C>A)
c.589C>A (p.Leu197Ile)
c.61-6158C>A (n.61-6158C>A)
c.442-6158C>A (n.442-6158C>A)
2g.233760876C>GCA351067285UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>G (n.856-6158C>G)
c.868-6158C>G (n.868-6158C>G)
c.862-6158C>G (n.862-6158C>G)
c.589C>G (p.Leu197Val)
c.61-6158C>G (n.61-6158C>G)
c.442-6158C>G (n.442-6158C>G)
2g.233760876C>TCA351067286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>T (n.856-6158C>T)
c.868-6158C>T (n.868-6158C>T)
c.862-6158C>T (n.862-6158C>T)
c.589C>T (p.Leu197Phe)
c.61-6158C>T (n.61-6158C>T)
c.442-6158C>T (n.442-6158C>T)
2g.233760877T>ACA351067293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>A (n.856-6157T>A)
c.868-6157T>A (n.868-6157T>A)
c.862-6157T>A (n.862-6157T>A)
c.590T>A (p.Leu197His)
c.61-6157T>A (n.61-6157T>A)
c.442-6157T>A (n.442-6157T>A)
2g.233760877T>CCA351067294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>C (n.856-6157T>C)
c.868-6157T>C (n.868-6157T>C)
c.862-6157T>C (n.862-6157T>C)
c.590T>C (p.Leu197Pro)
c.61-6157T>C (n.61-6157T>C)
c.442-6157T>C (n.442-6157T>C)
gnomAD v4
2g.233760877T>GCA351067295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>G (n.856-6157T>G)
c.868-6157T>G (n.868-6157T>G)
c.862-6157T>G (n.862-6157T>G)
c.590T>G (p.Leu197Arg)
c.61-6157T>G (n.61-6157T>G)
c.442-6157T>G (n.442-6157T>G)
2g.233760878C>ACA431960649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>A (n.856-6156C>A)
c.868-6156C>A (n.868-6156C>A)
c.862-6156C>A (n.862-6156C>A)
c.591C>A (p.Leu197=)
c.61-6156C>A (n.61-6156C>A)
c.442-6156C>A (n.442-6156C>A)
dbSNP
2g.233760878C=CA1335889601UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C= (n.856-6156C=)
c.868-6156C= (n.868-6156C=)
c.862-6156C= (n.862-6156C=)
c.591C= (p.Leu197=)
c.61-6156C= (n.61-6156C=)
c.442-6156C= (n.442-6156C=)
2g.233760878C>GCA431960650UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>G (n.856-6156C>G)
c.868-6156C>G (n.868-6156C>G)
c.862-6156C>G (n.862-6156C>G)
c.591C>G (p.Leu197=)
c.61-6156C>G (n.61-6156C>G)
c.442-6156C>G (n.442-6156C>G)
2g.233760878C>TCA431960647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>T (n.856-6156C>T)
c.868-6156C>T (n.868-6156C>T)
c.862-6156C>T (n.862-6156C>T)
c.591C>T (p.Leu197=)
c.61-6156C>T (n.61-6156C>T)
c.442-6156C>T (n.442-6156C>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760879T>ACA351067296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>A (n.856-6155T>A)
c.868-6155T>A (n.868-6155T>A)
c.862-6155T>A (n.862-6155T>A)
c.592T>A (p.Ser198Thr)
c.61-6155T>A (n.61-6155T>A)
c.442-6155T>A (n.442-6155T>A)
2g.233760879T>CCA351067297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>C (n.856-6155T>C)
c.868-6155T>C (n.868-6155T>C)
c.862-6155T>C (n.862-6155T>C)
c.592T>C (p.Ser198Pro)
c.61-6155T>C (n.61-6155T>C)
c.442-6155T>C (n.442-6155T>C)
ClinVar dbSNP
2g.233760879T>GCA351067299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>G (n.856-6155T>G)
c.868-6155T>G (n.868-6155T>G)
c.862-6155T>G (n.862-6155T>G)
c.592T>G (p.Ser198Ala)
c.61-6155T>G (n.61-6155T>G)
c.442-6155T>G (n.442-6155T>G)
2g.233760879T=CA1335889609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T= (n.856-6155T=)
c.868-6155T= (n.868-6155T=)
c.862-6155T= (n.862-6155T=)
c.592T= (p.Ser198=)
c.61-6155T= (n.61-6155T=)
c.442-6155T= (n.442-6155T=)
2g.233760880C>ACA351067304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>A (n.856-6154C>A)
c.868-6154C>A (n.868-6154C>A)
c.862-6154C>A (n.862-6154C>A)
c.593C>A (p.Ser198Tyr)
c.61-6154C>A (n.61-6154C>A)
c.442-6154C>A (n.442-6154C>A)
2g.233760880C>GCA351067307UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>G (n.856-6154C>G)
c.868-6154C>G (n.868-6154C>G)
c.862-6154C>G (n.862-6154C>G)
c.593C>G (p.Ser198Cys)
c.61-6154C>G (n.61-6154C>G)
c.442-6154C>G (n.442-6154C>G)
2g.233760880C>TCA351067302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>T (n.856-6154C>T)
c.868-6154C>T (n.868-6154C>T)
c.862-6154C>T (n.862-6154C>T)
c.593C>T (p.Ser198Phe)
c.61-6154C>T (n.61-6154C>T)
c.442-6154C>T (n.442-6154C>T)
gnomAD v4
2g.233760881C>ACA431960651UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>A (n.856-6153C>A)
c.868-6153C>A (n.868-6153C>A)
c.862-6153C>A (n.862-6153C>A)
c.594C>A (p.Ser198=)
c.61-6153C>A (n.61-6153C>A)
c.442-6153C>A (n.442-6153C>A)
2g.233760881C=CA1335889616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C= (n.856-6153C=)
c.868-6153C= (n.868-6153C=)
c.862-6153C= (n.862-6153C=)
c.594C= (p.Ser198=)
c.61-6153C= (n.61-6153C=)
c.442-6153C= (n.442-6153C=)
2g.233760881C>GCA431960652UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>G (n.856-6153C>G)
c.868-6153C>G (n.868-6153C>G)
c.862-6153C>G (n.862-6153C>G)
c.594C>G (p.Ser198=)
c.61-6153C>G (n.61-6153C>G)
c.442-6153C>G (n.442-6153C>G)
2g.233760881C>TCA67590199UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>T (n.856-6153C>T)
c.868-6153C>T (n.868-6153C>T)
c.862-6153C>T (n.862-6153C>T)
c.594C>T (p.Ser198=)
c.61-6153C>T (n.61-6153C>T)
c.442-6153C>T (n.442-6153C>T)
dbSNP gnomAD v4
2g.233760882T>ACA351067315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>A (n.856-6152T>A)
c.868-6152T>A (n.868-6152T>A)
c.862-6152T>A (n.862-6152T>A)
c.595T>A (p.Ser199Thr)
c.61-6152T>A (n.61-6152T>A)
c.442-6152T>A (n.442-6152T>A)
2g.233760882T>CCA351067317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>C (n.856-6152T>C)
c.868-6152T>C (n.868-6152T>C)
c.862-6152T>C (n.862-6152T>C)
c.595T>C (p.Ser199Pro)
c.61-6152T>C (n.61-6152T>C)
c.442-6152T>C (n.442-6152T>C)
2g.233760882T>GCA351067319UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>G (n.856-6152T>G)
c.868-6152T>G (n.868-6152T>G)
c.862-6152T>G (n.862-6152T>G)
c.595T>G (p.Ser199Ala)
c.61-6152T>G (n.61-6152T>G)
c.442-6152T>G (n.442-6152T>G)
2g.233760883C>ACA351067321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>A (n.856-6151C>A)
c.868-6151C>A (n.868-6151C>A)
c.862-6151C>A (n.862-6151C>A)
c.596C>A (p.Ser199Tyr)
c.61-6151C>A (n.61-6151C>A)
c.442-6151C>A (n.442-6151C>A)
2g.233760883C=CA1335889622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C= (n.856-6151C=)
c.868-6151C= (n.868-6151C=)
c.862-6151C= (n.862-6151C=)
c.596C= (p.Ser199=)
c.61-6151C= (n.61-6151C=)
c.442-6151C= (n.442-6151C=)
2g.233760883C>GCA351067323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>G (n.856-6151C>G)
c.868-6151C>G (n.868-6151C>G)
c.862-6151C>G (n.862-6151C>G)
c.596C>G (p.Ser199Cys)
c.61-6151C>G (n.61-6151C>G)
c.442-6151C>G (n.442-6151C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233760883C>TCA2179850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>T (n.856-6151C>T)
c.868-6151C>T (n.868-6151C>T)
c.862-6151C>T (n.862-6151C>T)
c.596C>T (p.Ser199Phe)
c.61-6151C>T (n.61-6151C>T)
c.442-6151C>T (n.442-6151C>T)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.233760884T>ACA431960659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>A (n.856-6150T>A)
c.868-6150T>A (n.868-6150T>A)
c.862-6150T>A (n.862-6150T>A)
c.597T>A (p.Ser199=)
c.61-6150T>A (n.61-6150T>A)
c.442-6150T>A (n.442-6150T>A)
gnomAD v4
2g.233760884T>CCA431960658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>C (n.856-6150T>C)
c.868-6150T>C (n.868-6150T>C)
c.862-6150T>C (n.862-6150T>C)
c.597T>C (p.Ser199=)
c.61-6150T>C (n.61-6150T>C)
c.442-6150T>C (n.442-6150T>C)
2g.233760884T>GCA431960661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>G (n.856-6150T>G)
c.868-6150T>G (n.868-6150T>G)
c.862-6150T>G (n.862-6150T>G)
c.597T>G (p.Ser199=)
c.61-6150T>G (n.61-6150T>G)
c.442-6150T>G (n.442-6150T>G)
2g.233760885C>ACA351067325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>A (n.856-6149C>A)
c.868-6149C>A (n.868-6149C>A)
c.862-6149C>A (n.862-6149C>A)
c.598C>A (p.His200Asn)
c.61-6149C>A (n.61-6149C>A)
c.442-6149C>A (n.442-6149C>A)
2g.233760885C>GCA351067326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>G (n.856-6149C>G)
c.868-6149C>G (n.868-6149C>G)
c.862-6149C>G (n.862-6149C>G)
c.598C>G (p.His200Asp)
c.61-6149C>G (n.61-6149C>G)
c.442-6149C>G (n.442-6149C>G)
2g.233760885C>TCA351067327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>T (n.856-6149C>T)
c.868-6149C>T (n.868-6149C>T)
c.862-6149C>T (n.862-6149C>T)
c.598C>T (p.His200Tyr)
c.61-6149C>T (n.61-6149C>T)
c.442-6149C>T (n.442-6149C>T)
dbSNP
2g.233760886A=CA1335889629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A= (n.856-6148A=)
c.868-6148A= (n.868-6148A=)
c.862-6148A= (n.862-6148A=)
c.599A= (p.His200=)
c.61-6148A= (n.61-6148A=)
c.442-6148A= (n.442-6148A=)
2g.233760886A>CCA2179851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>C (n.856-6148A>C)
c.868-6148A>C (n.868-6148A>C)
c.862-6148A>C (n.862-6148A>C)
c.599A>C (p.His200Pro)
c.61-6148A>C (n.61-6148A>C)
c.442-6148A>C (n.442-6148A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760886A>GCA351067329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>G (n.856-6148A>G)
c.868-6148A>G (n.868-6148A>G)
c.862-6148A>G (n.862-6148A>G)
c.599A>G (p.His200Arg)
c.61-6148A>G (n.61-6148A>G)
c.442-6148A>G (n.442-6148A>G)
2g.233760886A>TCA351067330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>T (n.856-6148A>T)
c.868-6148A>T (n.868-6148A>T)
c.862-6148A>T (n.862-6148A>T)
c.599A>T (p.His200Leu)
c.61-6148A>T (n.61-6148A>T)
c.442-6148A>T (n.442-6148A>T)
2g.233760886_233760887delinsATCA1335889627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148_856-6147delinsAT (n.856-6148_856-6147delinsAT)
c.868-6148_868-6147delinsAT (n.868-6148_868-6147delinsAT)
c.862-6148_862-6147delinsAT (n.862-6148_862-6147delinsAT)
c.599_600delinsAT (p.His200=)
c.61-6148_61-6147delinsAT (n.61-6148_61-6147delinsAT)
c.442-6148_442-6147delinsAT (n.442-6148_442-6147delinsAT)
2g.233760887T>ACA351067332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>A (n.856-6147T>A)
c.868-6147T>A (n.868-6147T>A)
c.862-6147T>A (n.862-6147T>A)
c.600T>A (p.His200Gln)
c.61-6147T>A (n.61-6147T>A)
c.442-6147T>A (n.442-6147T>A)
2g.233760887T>CCA431960669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>C (n.856-6147T>C)
c.868-6147T>C (n.868-6147T>C)
c.862-6147T>C (n.862-6147T>C)
c.600T>C (p.His200=)
c.61-6147T>C (n.61-6147T>C)
c.442-6147T>C (n.442-6147T>C)
2g.233760887T>GCA351067331UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>G (n.856-6147T>G)
c.868-6147T>G (n.868-6147T>G)
c.862-6147T>G (n.862-6147T>G)
c.600T>G (p.His200Gln)
c.61-6147T>G (n.61-6147T>G)
c.442-6147T>G (n.442-6147T>G)
2g.233760888delCA2179852UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146del (n.856-6146del)
c.868-6146del (n.868-6146del)
c.862-6146del (n.862-6146del)
c.601del (p.Ser201GlnfsTer4)
c.61-6146del (n.61-6146del)
c.442-6146del (n.442-6146del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760888T>ACA351067335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>A (n.856-6146T>A)
c.868-6146T>A (n.868-6146T>A)
c.862-6146T>A (n.862-6146T>A)
c.601T>A (p.Ser201Thr)
c.61-6146T>A (n.61-6146T>A)
c.442-6146T>A (n.442-6146T>A)
2g.233760888T>CCA351067336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>C (n.856-6146T>C)
c.868-6146T>C (n.868-6146T>C)
c.862-6146T>C (n.862-6146T>C)
c.601T>C (p.Ser201Pro)
c.61-6146T>C (n.61-6146T>C)
c.442-6146T>C (n.442-6146T>C)
2g.233760888T>GCA351067338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>G (n.856-6146T>G)
c.868-6146T>G (n.868-6146T>G)
c.862-6146T>G (n.862-6146T>G)
c.601T>G (p.Ser201Ala)
c.61-6146T>G (n.61-6146T>G)
c.442-6146T>G (n.442-6146T>G)
2g.233760889C>ACA351067340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>A (n.856-6145C>A)
c.868-6145C>A (n.868-6145C>A)
c.862-6145C>A (n.862-6145C>A)
c.602C>A (p.Ser201Ter)
c.61-6145C>A (n.61-6145C>A)
c.442-6145C>A (n.442-6145C>A)
2g.233760889C>GCA351067342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>G (n.856-6145C>G)
c.868-6145C>G (n.868-6145C>G)
c.862-6145C>G (n.862-6145C>G)
c.602C>G (p.Ser201Ter)
c.61-6145C>G (n.61-6145C>G)
c.442-6145C>G (n.442-6145C>G)
2g.233760889C>TCA351067343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>T (n.856-6145C>T)
c.868-6145C>T (n.868-6145C>T)
c.862-6145C>T (n.862-6145C>T)
c.602C>T (p.Ser201Leu)
c.61-6145C>T (n.61-6145C>T)
c.442-6145C>T (n.442-6145C>T)
2g.233760890A=CA1335889636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A= (n.856-6144A=)
c.868-6144A= (n.868-6144A=)
c.862-6144A= (n.862-6144A=)
c.603A= (p.Ser201=)
c.61-6144A= (n.61-6144A=)
c.442-6144A= (n.442-6144A=)
2g.233760890A>CCA431960675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>C (n.856-6144A>C)
c.868-6144A>C (n.868-6144A>C)
c.862-6144A>C (n.862-6144A>C)
c.603A>C (p.Ser201=)
c.61-6144A>C (n.61-6144A>C)
c.442-6144A>C (n.442-6144A>C)
2g.233760890A>GCA2179853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>G (n.856-6144A>G)
c.868-6144A>G (n.868-6144A>G)
c.862-6144A>G (n.862-6144A>G)
c.603A>G (p.Ser201=)
c.61-6144A>G (n.61-6144A>G)
c.442-6144A>G (n.442-6144A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760890A>TCA431960676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>T (n.856-6144A>T)
c.868-6144A>T (n.868-6144A>T)
c.862-6144A>T (n.862-6144A>T)
c.603A>T (p.Ser201=)
c.61-6144A>T (n.61-6144A>T)
c.442-6144A>T (n.442-6144A>T)
2g.233760891G>ACA351067346UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>A (n.856-6143G>A)
c.868-6143G>A (n.868-6143G>A)
c.862-6143G>A (n.862-6143G>A)
c.604G>A (p.Asp202Asn)
c.61-6143G>A (n.61-6143G>A)
c.442-6143G>A (n.442-6143G>A)
2g.233760891G>CCA351067348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>C (n.856-6143G>C)
c.868-6143G>C (n.868-6143G>C)
c.862-6143G>C (n.862-6143G>C)
c.604G>C (p.Asp202His)
c.61-6143G>C (n.61-6143G>C)
c.442-6143G>C (n.442-6143G>C)
dbSNP
2g.233760891G=CA1335889640UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G= (n.856-6143G=)
c.868-6143G= (n.868-6143G=)
c.862-6143G= (n.862-6143G=)
c.604G= (p.Asp202=)
c.61-6143G= (n.61-6143G=)
c.442-6143G= (n.442-6143G=)
2g.233760891G>TCA351067349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>T (n.856-6143G>T)
c.868-6143G>T (n.868-6143G>T)
c.862-6143G>T (n.862-6143G>T)
c.604G>T (p.Asp202Tyr)
c.61-6143G>T (n.61-6143G>T)
c.442-6143G>T (n.442-6143G>T)
2g.233760892A>CCA351067351UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>C (n.856-6142A>C)
c.868-6142A>C (n.868-6142A>C)
c.862-6142A>C (n.862-6142A>C)
c.605A>C (p.Asp202Ala)
c.61-6142A>C (n.61-6142A>C)
c.442-6142A>C (n.442-6142A>C)
2g.233760892A>GCA351067353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>G (n.856-6142A>G)
c.868-6142A>G (n.868-6142A>G)
c.862-6142A>G (n.862-6142A>G)
c.605A>G (p.Asp202Gly)
c.61-6142A>G (n.61-6142A>G)
c.442-6142A>G (n.442-6142A>G)
2g.233760892A>TCA351067355UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>T (n.856-6142A>T)
c.868-6142A>T (n.868-6142A>T)
c.862-6142A>T (n.862-6142A>T)
c.605A>T (p.Asp202Val)
c.61-6142A>T (n.61-6142A>T)
c.442-6142A>T (n.442-6142A>T)
2g.233760893T>ACA351067358UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>A (n.856-6141T>A)
c.868-6141T>A (n.868-6141T>A)
c.862-6141T>A (n.862-6141T>A)
c.606T>A (p.Asp202Glu)
c.61-6141T>A (n.61-6141T>A)
c.442-6141T>A (n.442-6141T>A)
2g.233760893T>CCA431960683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>C (n.856-6141T>C)
c.868-6141T>C (n.868-6141T>C)
c.862-6141T>C (n.862-6141T>C)
c.606T>C (p.Asp202=)
c.61-6141T>C (n.61-6141T>C)
c.442-6141T>C (n.442-6141T>C)
2g.233760893T>GCA351067356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>G (n.856-6141T>G)
c.868-6141T>G (n.868-6141T>G)
c.862-6141T>G (n.862-6141T>G)
c.606T>G (p.Asp202Glu)
c.61-6141T>G (n.61-6141T>G)
c.442-6141T>G (n.442-6141T>G)
2g.233760894C>ACA351067361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>A (n.856-6140C>A)
c.868-6140C>A (n.868-6140C>A)
c.862-6140C>A (n.862-6140C>A)
c.607C>A (p.His203Asn)
c.61-6140C>A (n.61-6140C>A)
c.442-6140C>A (n.442-6140C>A)
gnomAD v4
2g.233760894C=CA1335889642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C= (n.856-6140C=)
c.868-6140C= (n.868-6140C=)
c.862-6140C= (n.862-6140C=)
c.607C= (p.His203=)
c.61-6140C= (n.61-6140C=)
c.442-6140C= (n.442-6140C=)
2g.233760894C>GCA351067364UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>G (n.856-6140C>G)
c.868-6140C>G (n.868-6140C>G)
c.862-6140C>G (n.862-6140C>G)
c.607C>G (p.His203Asp)
c.61-6140C>G (n.61-6140C>G)
c.442-6140C>G (n.442-6140C>G)
2g.233760894C>TCA351067362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>T (n.856-6140C>T)
c.868-6140C>T (n.868-6140C>T)
c.862-6140C>T (n.862-6140C>T)
c.607C>T (p.His203Tyr)
c.61-6140C>T (n.61-6140C>T)
c.442-6140C>T (n.442-6140C>T)
dbSNP gnomAD v4
2g.233760894_233760918delinsCACATGACCTTCCTGCAGCGGGTGACA1335889643UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.607_631delinsCACATGACCTTCCTGCAGCGGGTGA (p.His203=)
c.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
2g.233760895A>CCA351067366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>C (n.856-6139A>C)
c.868-6139A>C (n.868-6139A>C)
c.862-6139A>C (n.862-6139A>C)
c.608A>C (p.His203Pro)
c.61-6139A>C (n.61-6139A>C)
c.442-6139A>C (n.442-6139A>C)
2g.233760895A>GCA351067368UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>G (n.856-6139A>G)
c.868-6139A>G (n.868-6139A>G)
c.862-6139A>G (n.862-6139A>G)
c.608A>G (p.His203Arg)
c.61-6139A>G (n.61-6139A>G)
c.442-6139A>G (n.442-6139A>G)
2g.233760895A>TCA351067369UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>T (n.856-6139A>T)
c.868-6139A>T (n.868-6139A>T)
c.862-6139A>T (n.862-6139A>T)
c.608A>T (p.His203Leu)
c.61-6139A>T (n.61-6139A>T)
c.442-6139A>T (n.442-6139A>T)
2g.233760896_233760919delCA645372713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138_856-6115del (n.856-6138_856-6115del)
c.868-6138_868-6115del (n.868-6138_868-6115del)
c.862-6138_862-6115del (n.862-6138_862-6115del)
c.609_632del (p.His203_Lys211delinsGln)
c.61-6138_61-6115del (n.61-6138_61-6115del)
c.442-6138_442-6115del (n.442-6138_442-6115del)
ClinVar dbSNP gnomAD v4
2g.233760896C>ACA351067371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>A (n.856-6138C>A)
c.868-6138C>A (n.868-6138C>A)
c.862-6138C>A (n.862-6138C>A)
c.609C>A (p.His203Gln)
c.61-6138C>A (n.61-6138C>A)
c.442-6138C>A (n.442-6138C>A)
COSMIC
2g.233760896C>GCA351067373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>G (n.856-6138C>G)
c.868-6138C>G (n.868-6138C>G)
c.862-6138C>G (n.862-6138C>G)
c.609C>G (p.His203Gln)
c.61-6138C>G (n.61-6138C>G)
c.442-6138C>G (n.442-6138C>G)
2g.233760896C>TCA431960689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>T (n.856-6138C>T)
c.868-6138C>T (n.868-6138C>T)
c.862-6138C>T (n.862-6138C>T)
c.609C>T (p.His203=)
c.61-6138C>T (n.61-6138C>T)
c.442-6138C>T (n.442-6138C>T)
2g.233760897A>CCA351067375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>C (n.856-6137A>C)
c.868-6137A>C (n.868-6137A>C)
c.862-6137A>C (n.862-6137A>C)
c.610A>C (p.Met204Leu)
c.61-6137A>C (n.61-6137A>C)
c.442-6137A>C (n.442-6137A>C)
2g.233760897A>GCA351067376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>G (n.856-6137A>G)
c.868-6137A>G (n.868-6137A>G)
c.862-6137A>G (n.862-6137A>G)
c.610A>G (p.Met204Val)
c.61-6137A>G (n.61-6137A>G)
c.442-6137A>G (n.442-6137A>G)
COSMIC COSMIC
2g.233760897A>TCA351067378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>T (n.856-6137A>T)
c.868-6137A>T (n.868-6137A>T)
c.862-6137A>T (n.862-6137A>T)
c.610A>T (p.Met204Leu)
c.61-6137A>T (n.61-6137A>T)
c.442-6137A>T (n.442-6137A>T)
2g.233760898T>ACA351067380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>A (n.856-6136T>A)
c.868-6136T>A (n.868-6136T>A)
c.862-6136T>A (n.862-6136T>A)
c.611T>A (p.Met204Lys)
c.61-6136T>A (n.61-6136T>A)
c.442-6136T>A (n.442-6136T>A)
2g.233760898T>CCA351067381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>C (n.856-6136T>C)
c.868-6136T>C (n.868-6136T>C)
c.862-6136T>C (n.862-6136T>C)
c.611T>C (p.Met204Thr)
c.61-6136T>C (n.61-6136T>C)
c.442-6136T>C (n.442-6136T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760898T>GCA351067382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>G (n.856-6136T>G)
c.868-6136T>G (n.868-6136T>G)
c.862-6136T>G (n.862-6136T>G)
c.611T>G (p.Met204Arg)
c.61-6136T>G (n.61-6136T>G)
c.442-6136T>G (n.442-6136T>G)
dbSNP
2g.233760898T=CA1335889649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T= (n.856-6136T=)
c.868-6136T= (n.868-6136T=)
c.862-6136T= (n.862-6136T=)
c.611T= (p.Met204=)
c.61-6136T= (n.61-6136T=)
c.442-6136T= (n.442-6136T=)
2g.233760899G>ACA351067388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>A (n.856-6135G>A)
c.868-6135G>A (n.868-6135G>A)
c.862-6135G>A (n.862-6135G>A)
c.612G>A (p.Met204Ile)
c.61-6135G>A (n.61-6135G>A)
c.442-6135G>A (n.442-6135G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760899G>CCA351067386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>C (n.856-6135G>C)
c.868-6135G>C (n.868-6135G>C)
c.862-6135G>C (n.862-6135G>C)
c.612G>C (p.Met204Ile)
c.61-6135G>C (n.61-6135G>C)
c.442-6135G>C (n.442-6135G>C)
2g.233760899G=CA1335889655UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G= (n.856-6135G=)
c.868-6135G= (n.868-6135G=)
c.862-6135G= (n.862-6135G=)
c.612G= (p.Met204=)
c.61-6135G= (n.61-6135G=)
c.442-6135G= (n.442-6135G=)
2g.233760899G>TCA351067384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>T (n.856-6135G>T)
c.868-6135G>T (n.868-6135G>T)
c.862-6135G>T (n.862-6135G>T)
c.612G>T (p.Met204Ile)
c.61-6135G>T (n.61-6135G>T)
c.442-6135G>T (n.442-6135G>T)
2g.233760900A>CCA351067390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>C (n.856-6134A>C)
c.868-6134A>C (n.868-6134A>C)
c.862-6134A>C (n.862-6134A>C)
c.613A>C (p.Thr205Pro)
c.61-6134A>C (n.61-6134A>C)
c.442-6134A>C (n.442-6134A>C)
2g.233760900A>GCA351067392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>G (n.856-6134A>G)
c.868-6134A>G (n.868-6134A>G)
c.862-6134A>G (n.862-6134A>G)
c.613A>G (p.Thr205Ala)
c.61-6134A>G (n.61-6134A>G)
c.442-6134A>G (n.442-6134A>G)
gnomAD v4
2g.233760900A>TCA351067393UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>T (n.856-6134A>T)
c.868-6134A>T (n.868-6134A>T)
c.862-6134A>T (n.862-6134A>T)
c.613A>T (p.Thr205Ser)
c.61-6134A>T (n.61-6134A>T)
c.442-6134A>T (n.442-6134A>T)
2g.233760900_233760901delinsACCA1335889658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134_856-6133delinsAC (n.856-6134_856-6133delinsAC)
c.868-6134_868-6133delinsAC (n.868-6134_868-6133delinsAC)
c.862-6134_862-6133delinsAC (n.862-6134_862-6133delinsAC)
c.613_614delinsAC (p.Thr205=)
c.61-6134_61-6133delinsAC (n.61-6134_61-6133delinsAC)
c.442-6134_442-6133delinsAC (n.442-6134_442-6133delinsAC)
2g.233760901C>ACA351067395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>A (n.856-6133C>A)
c.868-6133C>A (n.868-6133C>A)
c.862-6133C>A (n.862-6133C>A)
c.614C>A (p.Thr205Asn)
c.61-6133C>A (n.61-6133C>A)
c.442-6133C>A (n.442-6133C>A)
2g.233760901C=CA1335889662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C= (n.856-6133C=)
c.868-6133C= (n.868-6133C=)
c.862-6133C= (n.862-6133C=)
c.614C= (p.Thr205=)
c.61-6133C= (n.61-6133C=)
c.442-6133C= (n.442-6133C=)
2g.233760901C>GCA351067397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>G (n.856-6133C>G)
c.868-6133C>G (n.868-6133C>G)
c.862-6133C>G (n.862-6133C>G)
c.614C>G (p.Thr205Ser)
c.61-6133C>G (n.61-6133C>G)
c.442-6133C>G (n.442-6133C>G)
2g.233760901C>TCA2179854UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>T (n.856-6133C>T)
c.868-6133C>T (n.868-6133C>T)
c.862-6133C>T (n.862-6133C>T)
c.614C>T (p.Thr205Ile)
c.61-6133C>T (n.61-6133C>T)
c.442-6133C>T (n.442-6133C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760902delCA1043554932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132del (n.856-6132del)
c.868-6132del (n.868-6132del)
c.862-6132del (n.862-6132del)
c.615del (p.Phe206SerfsTer5)
c.61-6132del (n.61-6132del)
c.442-6132del (n.442-6132del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.233760902C>ACA431960785UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>A (n.856-6132C>A)
c.868-6132C>A (n.868-6132C>A)
c.862-6132C>A (n.862-6132C>A)
c.615C>A (p.Thr205=)
c.61-6132C>A (n.61-6132C>A)
c.442-6132C>A (n.442-6132C>A)
2g.233760902C=CA1335889664UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C= (n.856-6132C=)
c.868-6132C= (n.868-6132C=)
c.862-6132C= (n.862-6132C=)
c.615C= (p.Thr205=)
c.61-6132C= (n.61-6132C=)
c.442-6132C= (n.442-6132C=)
2g.233760902C>GCA431960787UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>G (n.856-6132C>G)
c.868-6132C>G (n.868-6132C>G)
c.862-6132C>G (n.862-6132C>G)
c.615C>G (p.Thr205=)
c.61-6132C>G (n.61-6132C>G)
c.442-6132C>G (n.442-6132C>G)
2g.233760902C>TCA431960786UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>T (n.856-6132C>T)
c.868-6132C>T (n.868-6132C>T)
c.862-6132C>T (n.862-6132C>T)
c.615C>T (p.Thr205=)
c.61-6132C>T (n.61-6132C>T)
c.442-6132C>T (n.442-6132C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760903T>ACA351067400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>A (n.856-6131T>A)
c.868-6131T>A (n.868-6131T>A)
c.862-6131T>A (n.862-6131T>A)
c.616T>A (p.Phe206Ile)
c.61-6131T>A (n.61-6131T>A)
c.442-6131T>A (n.442-6131T>A)
2g.233760903T>CCA351067402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>C (n.856-6131T>C)
c.868-6131T>C (n.868-6131T>C)
c.862-6131T>C (n.862-6131T>C)
c.616T>C (p.Phe206Leu)
c.61-6131T>C (n.61-6131T>C)
c.442-6131T>C (n.442-6131T>C)
2g.233760903T>GCA351067404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>G (n.856-6131T>G)
c.868-6131T>G (n.868-6131T>G)
c.862-6131T>G (n.862-6131T>G)
c.616T>G (p.Phe206Val)
c.61-6131T>G (n.61-6131T>G)
c.442-6131T>G (n.442-6131T>G)
2g.233760904T>ACA351067409UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>A (n.856-6130T>A)
c.868-6130T>A (n.868-6130T>A)
c.862-6130T>A (n.862-6130T>A)
c.617T>A (p.Phe206Tyr)
c.61-6130T>A (n.61-6130T>A)
c.442-6130T>A (n.442-6130T>A)
2g.233760904T>CCA351067411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>C (n.856-6130T>C)
c.868-6130T>C (n.868-6130T>C)
c.862-6130T>C (n.862-6130T>C)
c.617T>C (p.Phe206Ser)
c.61-6130T>C (n.61-6130T>C)
c.442-6130T>C (n.442-6130T>C)
2g.233760904T>GCA351067412UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>G (n.856-6130T>G)
c.868-6130T>G (n.868-6130T>G)
c.862-6130T>G (n.862-6130T>G)
c.617T>G (p.Phe206Cys)
c.61-6130T>G (n.61-6130T>G)
c.442-6130T>G (n.442-6130T>G)
2g.233760905C>ACA351067414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>A (n.856-6129C>A)
c.868-6129C>A (n.868-6129C>A)
c.862-6129C>A (n.862-6129C>A)
c.618C>A (p.Phe206Leu)
c.61-6129C>A (n.61-6129C>A)
c.442-6129C>A (n.442-6129C>A)
2g.233760905C>GCA351067416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>G (n.856-6129C>G)
c.868-6129C>G (n.868-6129C>G)
c.862-6129C>G (n.862-6129C>G)
c.618C>G (p.Phe206Leu)
c.61-6129C>G (n.61-6129C>G)
c.442-6129C>G (n.442-6129C>G)
2g.233760905C>TCA431960788UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>T (n.856-6129C>T)
c.868-6129C>T (n.868-6129C>T)
c.862-6129C>T (n.862-6129C>T)
c.618C>T (p.Phe206=)
c.61-6129C>T (n.61-6129C>T)
c.442-6129C>T (n.442-6129C>T)
2g.233760906C>ACA351067418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>A (n.856-6128C>A)
c.868-6128C>A (n.868-6128C>A)
c.862-6128C>A (n.862-6128C>A)
c.619C>A (p.Leu207Met)
c.61-6128C>A (n.61-6128C>A)
c.442-6128C>A (n.442-6128C>A)
2g.233760906C>GCA351067420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>G (n.856-6128C>G)
c.868-6128C>G (n.868-6128C>G)
c.862-6128C>G (n.862-6128C>G)
c.619C>G (p.Leu207Val)
c.61-6128C>G (n.61-6128C>G)
c.442-6128C>G (n.442-6128C>G)
2g.233760906C>TCA431960789UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>T (n.856-6128C>T)
c.868-6128C>T (n.868-6128C>T)
c.862-6128C>T (n.862-6128C>T)
c.619C>T (p.Leu207=)
c.61-6128C>T (n.61-6128C>T)
c.442-6128C>T (n.442-6128C>T)
2g.233760907T>ACA351067422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>A (n.856-6127T>A)
c.868-6127T>A (n.868-6127T>A)
c.862-6127T>A (n.862-6127T>A)
c.620T>A (p.Leu207Gln)
c.61-6127T>A (n.61-6127T>A)
c.442-6127T>A (n.442-6127T>A)
gnomAD v4
2g.233760907T>CCA351067429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>C (n.856-6127T>C)
c.868-6127T>C (n.868-6127T>C)
c.862-6127T>C (n.862-6127T>C)
c.620T>C (p.Leu207Pro)
c.61-6127T>C (n.61-6127T>C)
c.442-6127T>C (n.442-6127T>C)
2g.233760907T>GCA351067426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>G (n.856-6127T>G)
c.868-6127T>G (n.868-6127T>G)
c.862-6127T>G (n.862-6127T>G)
c.620T>G (p.Leu207Arg)
c.61-6127T>G (n.61-6127T>G)
c.442-6127T>G (n.442-6127T>G)
2g.233760908G>ACA431960791UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>A (n.856-6126G>A)
c.868-6126G>A (n.868-6126G>A)
c.862-6126G>A (n.862-6126G>A)
c.621G>A (p.Leu207=)
c.61-6126G>A (n.61-6126G>A)
c.442-6126G>A (n.442-6126G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760908G>CCA431960790UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>C (n.856-6126G>C)
c.868-6126G>C (n.868-6126G>C)
c.862-6126G>C (n.862-6126G>C)
c.621G>C (p.Leu207=)
c.61-6126G>C (n.61-6126G>C)
c.442-6126G>C (n.442-6126G>C)
2g.233760908G=CA1335889669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G= (n.856-6126G=)
c.868-6126G= (n.868-6126G=)
c.862-6126G= (n.862-6126G=)
c.621G= (p.Leu207=)
c.61-6126G= (n.61-6126G=)
c.442-6126G= (n.442-6126G=)
2g.233760908G>TCA431960792UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>T (n.856-6126G>T)
c.868-6126G>T (n.868-6126G>T)
c.862-6126G>T (n.862-6126G>T)
c.621G>T (p.Leu207=)
c.61-6126G>T (n.61-6126G>T)
c.442-6126G>T (n.442-6126G>T)

Number of alleles fetched