Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760811T>A | CA122102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>A (n.856-6223T>A) c.868-6223T>A (n.868-6223T>A) c.862-6223T>A (n.862-6223T>A) c.524T>A (p.Leu175Gln) c.61-6223T>A (n.61-6223T>A) c.442-6223T>A (n.442-6223T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760811T>C | CA351066964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>C (n.856-6223T>C) c.868-6223T>C (n.868-6223T>C) c.862-6223T>C (n.862-6223T>C) c.524T>C (p.Leu175Pro) c.61-6223T>C (n.61-6223T>C) c.442-6223T>C (n.442-6223T>C) | |
2 | g.233760811T>G | CA351066965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T>G (n.856-6223T>G) c.868-6223T>G (n.868-6223T>G) c.862-6223T>G (n.862-6223T>G) c.524T>G (p.Leu175Arg) c.61-6223T>G (n.61-6223T>G) c.442-6223T>G (n.442-6223T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760811T= | CA1335889502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6223T= (n.856-6223T=) c.868-6223T= (n.868-6223T=) c.862-6223T= (n.862-6223T=) c.524T= (p.Leu175=) c.61-6223T= (n.61-6223T=) c.442-6223T= (n.442-6223T=) | |
2 | g.233760812G>A | CA431960501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>A (n.856-6222G>A) c.868-6222G>A (n.868-6222G>A) c.862-6222G>A (n.862-6222G>A) c.525G>A (p.Leu175=) c.61-6222G>A (n.61-6222G>A) c.442-6222G>A (n.442-6222G>A) | dbSNP |
2 | g.233760812G>C | CA431960500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>C (n.856-6222G>C) c.868-6222G>C (n.868-6222G>C) c.862-6222G>C (n.862-6222G>C) c.525G>C (p.Leu175=) c.61-6222G>C (n.61-6222G>C) c.442-6222G>C (n.442-6222G>C) | |
2 | g.233760812G>T | CA431960502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6222G>T (n.856-6222G>T) c.868-6222G>T (n.868-6222G>T) c.862-6222G>T (n.862-6222G>T) c.525G>T (p.Leu175=) c.61-6222G>T (n.61-6222G>T) c.442-6222G>T (n.442-6222G>T) | |
2 | g.233760813C>A | CA351066967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>A (n.856-6221C>A) c.868-6221C>A (n.868-6221C>A) c.862-6221C>A (n.862-6221C>A) c.526C>A (p.Pro176Thr) c.61-6221C>A (n.61-6221C>A) c.442-6221C>A (n.442-6221C>A) | |
2 | g.233760813C>G | CA351066968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>G (n.856-6221C>G) c.868-6221C>G (n.868-6221C>G) c.862-6221C>G (n.862-6221C>G) c.526C>G (p.Pro176Ala) c.61-6221C>G (n.61-6221C>G) c.442-6221C>G (n.442-6221C>G) | |
2 | g.233760813C>T | CA351066970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6221C>T (n.856-6221C>T) c.868-6221C>T (n.868-6221C>T) c.862-6221C>T (n.862-6221C>T) c.526C>T (p.Pro176Ser) c.61-6221C>T (n.61-6221C>T) c.442-6221C>T (n.442-6221C>T) | |
2 | g.233760814C>A | CA351066975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>A (n.856-6220C>A) c.868-6220C>A (n.868-6220C>A) c.862-6220C>A (n.862-6220C>A) c.527C>A (p.Pro176Gln) c.61-6220C>A (n.61-6220C>A) c.442-6220C>A (n.442-6220C>A) | |
2 | g.233760814C>G | CA351066977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>G (n.856-6220C>G) c.868-6220C>G (n.868-6220C>G) c.862-6220C>G (n.862-6220C>G) c.527C>G (p.Pro176Arg) c.61-6220C>G (n.61-6220C>G) c.442-6220C>G (n.442-6220C>G) | |
2 | g.233760814C>T | CA351066973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6220C>T (n.856-6220C>T) c.868-6220C>T (n.868-6220C>T) c.862-6220C>T (n.862-6220C>T) c.527C>T (p.Pro176Leu) c.61-6220C>T (n.61-6220C>T) c.442-6220C>T (n.442-6220C>T) | |
2 | g.233760815A>C | CA431960507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>C (n.856-6219A>C) c.868-6219A>C (n.868-6219A>C) c.862-6219A>C (n.862-6219A>C) c.528A>C (p.Pro176=) c.61-6219A>C (n.61-6219A>C) c.442-6219A>C (n.442-6219A>C) | |
2 | g.233760815A>G | CA431960508 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>G (n.856-6219A>G) c.868-6219A>G (n.868-6219A>G) c.862-6219A>G (n.862-6219A>G) c.528A>G (p.Pro176=) c.61-6219A>G (n.61-6219A>G) c.442-6219A>G (n.442-6219A>G) | gnomAD v4 |
2 | g.233760815A>T | CA431960506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6219A>T (n.856-6219A>T) c.868-6219A>T (n.868-6219A>T) c.862-6219A>T (n.862-6219A>T) c.528A>T (p.Pro176=) c.61-6219A>T (n.61-6219A>T) c.442-6219A>T (n.442-6219A>T) | |
2 | g.233760816T>A | CA351066979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>A (n.856-6218T>A) c.868-6218T>A (n.868-6218T>A) c.862-6218T>A (n.862-6218T>A) c.529T>A (p.Cys177Ser) c.61-6218T>A (n.61-6218T>A) c.442-6218T>A (n.442-6218T>A) | |
2 | g.233760816T>C | CA2179839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>C (n.856-6218T>C) c.868-6218T>C (n.868-6218T>C) c.862-6218T>C (n.862-6218T>C) c.529T>C (p.Cys177Arg) c.61-6218T>C (n.61-6218T>C) c.442-6218T>C (n.442-6218T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760816T>G | CA351066980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T>G (n.856-6218T>G) c.868-6218T>G (n.868-6218T>G) c.862-6218T>G (n.862-6218T>G) c.529T>G (p.Cys177Gly) c.61-6218T>G (n.61-6218T>G) c.442-6218T>G (n.442-6218T>G) | |
2 | g.233760816T= | CA1335889506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6218T= (n.856-6218T=) c.868-6218T= (n.868-6218T=) c.862-6218T= (n.862-6218T=) c.529T= (p.Cys177=) c.61-6218T= (n.61-6218T=) c.442-6218T= (n.442-6218T=) | |
2 | g.233760817G>A | CA351066981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>A (n.856-6217G>A) c.868-6217G>A (n.868-6217G>A) c.862-6217G>A (n.862-6217G>A) c.530G>A (p.Cys177Tyr) c.61-6217G>A (n.61-6217G>A) c.442-6217G>A (n.442-6217G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760817G>C | CA351066982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>C (n.856-6217G>C) c.868-6217G>C (n.868-6217G>C) c.862-6217G>C (n.862-6217G>C) c.530G>C (p.Cys177Ser) c.61-6217G>C (n.61-6217G>C) c.442-6217G>C (n.442-6217G>C) | |
2 | g.233760817G= | CA1335889510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G= (n.856-6217G=) c.868-6217G= (n.868-6217G=) c.862-6217G= (n.862-6217G=) c.530G= (p.Cys177=) c.61-6217G= (n.61-6217G=) c.442-6217G= (n.442-6217G=) | |
2 | g.233760817G>T | CA351066984 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6217G>T (n.856-6217G>T) c.868-6217G>T (n.868-6217G>T) c.862-6217G>T (n.862-6217G>T) c.530G>T (p.Cys177Phe) c.61-6217G>T (n.61-6217G>T) c.442-6217G>T (n.442-6217G>T) | |
2 | g.233760818C>A | CA351066988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>A (n.856-6216C>A) c.868-6216C>A (n.868-6216C>A) c.862-6216C>A (n.862-6216C>A) c.531C>A (p.Cys177Ter) c.61-6216C>A (n.61-6216C>A) c.442-6216C>A (n.442-6216C>A) | |
2 | g.233760818C>G | CA351066990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>G (n.856-6216C>G) c.868-6216C>G (n.868-6216C>G) c.862-6216C>G (n.862-6216C>G) c.531C>G (p.Cys177Trp) c.61-6216C>G (n.61-6216C>G) c.442-6216C>G (n.442-6216C>G) | |
2 | g.233760818C>T | CA431960512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6216C>T (n.856-6216C>T) c.868-6216C>T (n.868-6216C>T) c.862-6216C>T (n.862-6216C>T) c.531C>T (p.Cys177=) c.61-6216C>T (n.61-6216C>T) c.442-6216C>T (n.442-6216C>T) | |
2 | g.233760819A= | CA1335889513 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A= (n.856-6215A=) c.868-6215A= (n.868-6215A=) c.862-6215A= (n.862-6215A=) c.532A= (p.Ser178=) c.61-6215A= (n.61-6215A=) c.442-6215A= (n.442-6215A=) | |
2 | g.233760819A>C | CA351066992 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>C (n.856-6215A>C) c.868-6215A>C (n.868-6215A>C) c.862-6215A>C (n.862-6215A>C) c.532A>C (p.Ser178Arg) c.61-6215A>C (n.61-6215A>C) c.442-6215A>C (n.442-6215A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760819A>G | CA351066994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>G (n.856-6215A>G) c.868-6215A>G (n.868-6215A>G) c.862-6215A>G (n.862-6215A>G) c.532A>G (p.Ser178Gly) c.61-6215A>G (n.61-6215A>G) c.442-6215A>G (n.442-6215A>G) | |
2 | g.233760819A>T | CA351066995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6215A>T (n.856-6215A>T) c.868-6215A>T (n.868-6215A>T) c.862-6215A>T (n.862-6215A>T) c.532A>T (p.Ser178Cys) c.61-6215A>T (n.61-6215A>T) c.442-6215A>T (n.442-6215A>T) | |
2 | g.233760820G>A | CA351067000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>A (n.856-6214G>A) c.868-6214G>A (n.868-6214G>A) c.862-6214G>A (n.862-6214G>A) c.533G>A (p.Ser178Asn) c.61-6214G>A (n.61-6214G>A) c.442-6214G>A (n.442-6214G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760820G>C | CA351067002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>C (n.856-6214G>C) c.868-6214G>C (n.868-6214G>C) c.862-6214G>C (n.862-6214G>C) c.533G>C (p.Ser178Thr) c.61-6214G>C (n.61-6214G>C) c.442-6214G>C (n.442-6214G>C) | |
2 | g.233760820G= | CA1335889516 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G= (n.856-6214G=) c.868-6214G= (n.868-6214G=) c.862-6214G= (n.862-6214G=) c.533G= (p.Ser178=) c.61-6214G= (n.61-6214G=) c.442-6214G= (n.442-6214G=) | |
2 | g.233760820G>T | CA351066998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6214G>T (n.856-6214G>T) c.868-6214G>T (n.868-6214G>T) c.862-6214G>T (n.862-6214G>T) c.533G>T (p.Ser178Ile) c.61-6214G>T (n.61-6214G>T) c.442-6214G>T (n.442-6214G>T) | |
2 | g.233760821C>A | CA351067004 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>A (n.856-6213C>A) c.868-6213C>A (n.868-6213C>A) c.862-6213C>A (n.862-6213C>A) c.534C>A (p.Ser178Arg) c.61-6213C>A (n.61-6213C>A) c.442-6213C>A (n.442-6213C>A) | |
2 | g.233760821C>G | CA351067006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>G (n.856-6213C>G) c.868-6213C>G (n.868-6213C>G) c.862-6213C>G (n.862-6213C>G) c.534C>G (p.Ser178Arg) c.61-6213C>G (n.61-6213C>G) c.442-6213C>G (n.442-6213C>G) | |
2 | g.233760821C>T | CA431960516 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6213C>T (n.856-6213C>T) c.868-6213C>T (n.868-6213C>T) c.862-6213C>T (n.862-6213C>T) c.534C>T (p.Ser178=) c.61-6213C>T (n.61-6213C>T) c.442-6213C>T (n.442-6213C>T) | |
2 | g.233760822C>A | CA351067008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>A (n.856-6212C>A) c.868-6212C>A (n.868-6212C>A) c.862-6212C>A (n.862-6212C>A) c.535C>A (p.Leu179Met) c.61-6212C>A (n.61-6212C>A) c.442-6212C>A (n.442-6212C>A) | |
2 | g.233760822C>G | CA351067010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>G (n.856-6212C>G) c.868-6212C>G (n.868-6212C>G) c.862-6212C>G (n.862-6212C>G) c.535C>G (p.Leu179Val) c.61-6212C>G (n.61-6212C>G) c.442-6212C>G (n.442-6212C>G) | |
2 | g.233760822C>T | CA431960522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6212C>T (n.856-6212C>T) c.868-6212C>T (n.868-6212C>T) c.862-6212C>T (n.862-6212C>T) c.535C>T (p.Leu179=) c.61-6212C>T (n.61-6212C>T) c.442-6212C>T (n.442-6212C>T) | |
2 | g.233760823T>A | CA351067017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>A (n.856-6211T>A) c.868-6211T>A (n.868-6211T>A) c.862-6211T>A (n.862-6211T>A) c.536T>A (p.Leu179Gln) c.61-6211T>A (n.61-6211T>A) c.442-6211T>A (n.442-6211T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760823T>C | CA351067015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>C (n.856-6211T>C) c.868-6211T>C (n.868-6211T>C) c.862-6211T>C (n.862-6211T>C) c.536T>C (p.Leu179Pro) c.61-6211T>C (n.61-6211T>C) c.442-6211T>C (n.442-6211T>C) | |
2 | g.233760823T>G | CA351067013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T>G (n.856-6211T>G) c.868-6211T>G (n.868-6211T>G) c.862-6211T>G (n.862-6211T>G) c.536T>G (p.Leu179Arg) c.61-6211T>G (n.61-6211T>G) c.442-6211T>G (n.442-6211T>G) | gnomAD v4 |
2 | g.233760823T= | CA1335889521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6211T= (n.856-6211T=) c.868-6211T= (n.868-6211T=) c.862-6211T= (n.862-6211T=) c.536T= (p.Leu179=) c.61-6211T= (n.61-6211T=) c.442-6211T= (n.442-6211T=) | |
2 | g.233760824G>A | CA431960529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>A (n.856-6210G>A) c.868-6210G>A (n.868-6210G>A) c.862-6210G>A (n.862-6210G>A) c.537G>A (p.Leu179=) c.61-6210G>A (n.61-6210G>A) c.442-6210G>A (n.442-6210G>A) | |
2 | g.233760824G>C | CA431960535 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>C (n.856-6210G>C) c.868-6210G>C (n.868-6210G>C) c.862-6210G>C (n.862-6210G>C) c.537G>C (p.Leu179=) c.61-6210G>C (n.61-6210G>C) c.442-6210G>C (n.442-6210G>C) | |
2 | g.233760824G>T | CA431960531 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6210G>T (n.856-6210G>T) c.868-6210G>T (n.868-6210G>T) c.862-6210G>T (n.862-6210G>T) c.537G>T (p.Leu179=) c.61-6210G>T (n.61-6210G>T) c.442-6210G>T (n.442-6210G>T) | |
2 | g.233760825G>A | CA351067020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G>A (n.856-6209G>A) c.868-6209G>A (n.868-6209G>A) c.862-6209G>A (n.862-6209G>A) c.538G>A (p.Glu180Lys) c.61-6209G>A (n.61-6209G>A) c.442-6209G>A (n.442-6209G>A) | |
2 | g.233760825G>C | CA351067021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6209G>C (n.856-6209G>C) c.868-6209G>C (n.868-6209G>C) c.862-6209G>C (n.862-6209G>C) c.538G>C (p.Glu180Gln) c.61-6209G>C (n.61-6209G>C) c.442-6209G>C (n.442-6209G>C) | dbSNP gnomAD v3 gnomAD v4 |