Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760443G>A | CA2179781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6591G>A (n.856-6591G>A) c.868-6591G>A (n.868-6591G>A) c.862-6591G>A (n.862-6591G>A) c.156G>A (p.Gln52=) c.61-6591G>A (n.61-6591G>A) c.442-6591G>A (n.442-6591G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760443G>C | CA351065936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6591G>C (n.856-6591G>C) c.868-6591G>C (n.868-6591G>C) c.862-6591G>C (n.862-6591G>C) c.156G>C (p.Gln52His) c.61-6591G>C (n.61-6591G>C) c.442-6591G>C (n.442-6591G>C) | dbSNP gnomAD v4 |
2 | g.233760443G= | CA1335893892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6591G= (n.856-6591G=) c.868-6591G= (n.868-6591G=) c.862-6591G= (n.862-6591G=) c.156G= (p.Gln52=) c.61-6591G= (n.61-6591G=) c.442-6591G= (n.442-6591G=) | |
2 | g.233760443G>T | CA351065938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6591G>T (n.856-6591G>T) c.868-6591G>T (n.868-6591G>T) c.862-6591G>T (n.862-6591G>T) c.156G>T (p.Gln52His) c.61-6591G>T (n.61-6591G>T) c.442-6591G>T (n.442-6591G>T) | |
2 | g.233760444A>C | CA431960109 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6590A>C (n.856-6590A>C) c.868-6590A>C (n.868-6590A>C) c.862-6590A>C (n.862-6590A>C) c.157A>C (p.Arg53=) c.61-6590A>C (n.61-6590A>C) c.442-6590A>C (n.442-6590A>C) | |
2 | g.233760444A>G | CA351065940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6590A>G (n.856-6590A>G) c.868-6590A>G (n.868-6590A>G) c.862-6590A>G (n.862-6590A>G) c.157A>G (p.Arg53Gly) c.61-6590A>G (n.61-6590A>G) c.442-6590A>G (n.442-6590A>G) | dbSNP |
2 | g.233760444A>T | CA351065942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6590A>T (n.856-6590A>T) c.868-6590A>T (n.868-6590A>T) c.862-6590A>T (n.862-6590A>T) c.157A>T (p.Arg53Trp) c.61-6590A>T (n.61-6590A>T) c.442-6590A>T (n.442-6590A>T) | |
2 | g.233760445G>A | CA351065944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6589G>A (n.856-6589G>A) c.868-6589G>A (n.868-6589G>A) c.862-6589G>A (n.862-6589G>A) c.158G>A (p.Arg53Lys) c.61-6589G>A (n.61-6589G>A) c.442-6589G>A (n.442-6589G>A) | dbSNP gnomAD v4 |
2 | g.233760445G>C | CA351065947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6589G>C (n.856-6589G>C) c.868-6589G>C (n.868-6589G>C) c.862-6589G>C (n.862-6589G>C) c.158G>C (p.Arg53Thr) c.61-6589G>C (n.61-6589G>C) c.442-6589G>C (n.442-6589G>C) | |
2 | g.233760445G>T | CA351065949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6589G>T (n.856-6589G>T) c.868-6589G>T (n.868-6589G>T) c.862-6589G>T (n.862-6589G>T) c.158G>T (p.Arg53Met) c.61-6589G>T (n.61-6589G>T) c.442-6589G>T (n.442-6589G>T) | dbSNP |
2 | g.233760446G>A | CA2179782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6588G>A (n.856-6588G>A) c.868-6588G>A (n.868-6588G>A) c.862-6588G>A (n.862-6588G>A) c.159G>A (p.Arg53=) c.61-6588G>A (n.61-6588G>A) c.442-6588G>A (n.442-6588G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760446G>C | CA351065957 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6588G>C (n.856-6588G>C) c.868-6588G>C (n.868-6588G>C) c.862-6588G>C (n.862-6588G>C) c.159G>C (p.Arg53Ser) c.61-6588G>C (n.61-6588G>C) c.442-6588G>C (n.442-6588G>C) | |
2 | g.233760446G= | CA1335893893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6588G= (n.856-6588G=) c.868-6588G= (n.868-6588G=) c.862-6588G= (n.862-6588G=) c.159G= (p.Arg53=) c.61-6588G= (n.61-6588G=) c.442-6588G= (n.442-6588G=) | |
2 | g.233760446G>T | CA351065954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6588G>T (n.856-6588G>T) c.868-6588G>T (n.868-6588G>T) c.862-6588G>T (n.862-6588G>T) c.159G>T (p.Arg53Ser) c.61-6588G>T (n.61-6588G>T) c.442-6588G>T (n.442-6588G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760447G>A | CA351065960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6587G>A (n.856-6587G>A) c.868-6587G>A (n.868-6587G>A) c.862-6587G>A (n.862-6587G>A) c.160G>A (p.Gly54Arg) c.61-6587G>A (n.61-6587G>A) c.442-6587G>A (n.442-6587G>A) | dbSNP |
2 | g.233760447G>C | CA351065962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6587G>C (n.856-6587G>C) c.868-6587G>C (n.868-6587G>C) c.862-6587G>C (n.862-6587G>C) c.160G>C (p.Gly54Arg) c.61-6587G>C (n.61-6587G>C) c.442-6587G>C (n.442-6587G>C) | dbSNP |
2 | g.233760447G>T | CA351065965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6587G>T (n.856-6587G>T) c.868-6587G>T (n.868-6587G>T) c.862-6587G>T (n.862-6587G>T) c.160G>T (p.Gly54Ter) c.61-6587G>T (n.61-6587G>T) c.442-6587G>T (n.442-6587G>T) | dbSNP |
2 | g.233760448G>A | CA351065967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6586G>A (n.856-6586G>A) c.868-6586G>A (n.868-6586G>A) c.862-6586G>A (n.862-6586G>A) c.161G>A (p.Gly54Glu) c.61-6586G>A (n.61-6586G>A) c.442-6586G>A (n.442-6586G>A) | dbSNP |
2 | g.233760448G>C | CA351065969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6586G>C (n.856-6586G>C) c.868-6586G>C (n.868-6586G>C) c.862-6586G>C (n.862-6586G>C) c.161G>C (p.Gly54Ala) c.61-6586G>C (n.61-6586G>C) c.442-6586G>C (n.442-6586G>C) | dbSNP |
2 | g.233760448G= | CA1335893894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6586G= (n.856-6586G=) c.868-6586G= (n.868-6586G=) c.862-6586G= (n.862-6586G=) c.161G= (p.Gly54=) c.61-6586G= (n.61-6586G=) c.442-6586G= (n.442-6586G=) | |
2 | g.233760448G>T | CA2179783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6586G>T (n.856-6586G>T) c.868-6586G>T (n.868-6586G>T) c.862-6586G>T (n.862-6586G>T) c.161G>T (p.Gly54Val) c.61-6586G>T (n.61-6586G>T) c.442-6586G>T (n.442-6586G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760449del | CA2663717383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6585del (n.856-6585del) c.868-6585del (n.868-6585del) c.862-6585del (n.862-6585del) c.162del (p.His55MetfsTer3) c.61-6585del (n.61-6585del) c.442-6585del (n.442-6585del) | gnomAD v4 |
2 | g.233760449A>C | CA431960110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6585A>C (n.856-6585A>C) c.868-6585A>C (n.868-6585A>C) c.862-6585A>C (n.862-6585A>C) c.162A>C (p.Gly54=) c.61-6585A>C (n.61-6585A>C) c.442-6585A>C (n.442-6585A>C) | |
2 | g.233760449A>G | CA431960111 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6585A>G (n.856-6585A>G) c.868-6585A>G (n.868-6585A>G) c.862-6585A>G (n.862-6585A>G) c.162A>G (p.Gly54=) c.61-6585A>G (n.61-6585A>G) c.442-6585A>G (n.442-6585A>G) | |
2 | g.233760449A>T | CA431960112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6585A>T (n.856-6585A>T) c.868-6585A>T (n.868-6585A>T) c.862-6585A>T (n.862-6585A>T) c.162A>T (p.Gly54=) c.61-6585A>T (n.61-6585A>T) c.442-6585A>T (n.442-6585A>T) | dbSNP |
2 | g.233760450C>A | CA351065977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6584C>A (n.856-6584C>A) c.868-6584C>A (n.868-6584C>A) c.862-6584C>A (n.862-6584C>A) c.163C>A (p.His55Asn) c.61-6584C>A (n.61-6584C>A) c.442-6584C>A (n.442-6584C>A) | |
2 | g.233760450C= | CA1335893895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6584C= (n.856-6584C=) c.868-6584C= (n.868-6584C=) c.862-6584C= (n.862-6584C=) c.163C= (p.His55=) c.61-6584C= (n.61-6584C=) c.442-6584C= (n.442-6584C=) | |
2 | g.233760450C>G | CA351065972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6584C>G (n.856-6584C>G) c.868-6584C>G (n.868-6584C>G) c.862-6584C>G (n.862-6584C>G) c.163C>G (p.His55Asp) c.61-6584C>G (n.61-6584C>G) c.442-6584C>G (n.442-6584C>G) | dbSNP |
2 | g.233760450C>T | CA351065974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6584C>T (n.856-6584C>T) c.868-6584C>T (n.868-6584C>T) c.862-6584C>T (n.862-6584C>T) c.163C>T (p.His55Tyr) c.61-6584C>T (n.61-6584C>T) c.442-6584C>T (n.442-6584C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760451A>C | CA351065981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6583A>C (n.856-6583A>C) c.868-6583A>C (n.868-6583A>C) c.862-6583A>C (n.862-6583A>C) c.164A>C (p.His55Pro) c.61-6583A>C (n.61-6583A>C) c.442-6583A>C (n.442-6583A>C) | |
2 | g.233760451A>G | CA351065983 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6583A>G (n.856-6583A>G) c.868-6583A>G (n.868-6583A>G) c.862-6583A>G (n.862-6583A>G) c.164A>G (p.His55Arg) c.61-6583A>G (n.61-6583A>G) c.442-6583A>G (n.442-6583A>G) | ClinVar |
2 | g.233760451A>T | CA351065985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6583A>T (n.856-6583A>T) c.868-6583A>T (n.868-6583A>T) c.862-6583A>T (n.862-6583A>T) c.164A>T (p.His55Leu) c.61-6583A>T (n.61-6583A>T) c.442-6583A>T (n.442-6583A>T) | |
2 | g.233760451dup | CA2580066072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6583dup (n.856-6583dup) c.868-6583dup (n.868-6583dup) c.862-6583dup (n.862-6583dup) c.164dup (p.His55GlnfsTer2) c.61-6583dup (n.61-6583dup) c.442-6583dup (n.442-6583dup) | ClinVar gnomAD v4 |
2 | g.233760452T>A | CA351065987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6582T>A (n.856-6582T>A) c.868-6582T>A (n.868-6582T>A) c.862-6582T>A (n.862-6582T>A) c.165T>A (p.His55Gln) c.61-6582T>A (n.61-6582T>A) c.442-6582T>A (n.442-6582T>A) | dbSNP gnomAD v4 |
2 | g.233760452T>C | CA431960113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6582T>C (n.856-6582T>C) c.868-6582T>C (n.868-6582T>C) c.862-6582T>C (n.862-6582T>C) c.165T>C (p.His55=) c.61-6582T>C (n.61-6582T>C) c.442-6582T>C (n.442-6582T>C) | dbSNP |
2 | g.233760452T>G | CA351065988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6582T>G (n.856-6582T>G) c.868-6582T>G (n.868-6582T>G) c.862-6582T>G (n.862-6582T>G) c.165T>G (p.His55Gln) c.61-6582T>G (n.61-6582T>G) c.442-6582T>G (n.442-6582T>G) | |
2 | g.233760452T= | CA1335893896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6582T= (n.856-6582T=) c.868-6582T= (n.868-6582T=) c.862-6582T= (n.862-6582T=) c.165T= (p.His55=) c.61-6582T= (n.61-6582T=) c.442-6582T= (n.442-6582T=) | |
2 | g.233760453G>A | CA351065992 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6581G>A (n.856-6581G>A) c.868-6581G>A (n.868-6581G>A) c.862-6581G>A (n.862-6581G>A) c.166G>A (p.Glu56Lys) c.61-6581G>A (n.61-6581G>A) c.442-6581G>A (n.442-6581G>A) | |
2 | g.233760453G>C | CA67589694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6581G>C (n.856-6581G>C) c.868-6581G>C (n.868-6581G>C) c.862-6581G>C (n.862-6581G>C) c.166G>C (p.Glu56Gln) c.61-6581G>C (n.61-6581G>C) c.442-6581G>C (n.442-6581G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760453G= | CA1335893897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6581G= (n.856-6581G=) c.868-6581G= (n.868-6581G=) c.862-6581G= (n.862-6581G=) c.166G= (p.Glu56=) c.61-6581G= (n.61-6581G=) c.442-6581G= (n.442-6581G=) | |
2 | g.233760453G>T | CA351065991 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6581G>T (n.856-6581G>T) c.868-6581G>T (n.868-6581G>T) c.862-6581G>T (n.862-6581G>T) c.166G>T (p.Glu56Ter) c.61-6581G>T (n.61-6581G>T) c.442-6581G>T (n.442-6581G>T) | |
2 | g.233760454A= | CA1335893898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6580A= (n.856-6580A=) c.868-6580A= (n.868-6580A=) c.862-6580A= (n.862-6580A=) c.167A= (p.Glu56=) c.61-6580A= (n.61-6580A=) c.442-6580A= (n.442-6580A=) | |
2 | g.233760454A>C | CA2179784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6580A>C (n.856-6580A>C) c.868-6580A>C (n.868-6580A>C) c.862-6580A>C (n.862-6580A>C) c.167A>C (p.Glu56Ala) c.61-6580A>C (n.61-6580A>C) c.442-6580A>C (n.442-6580A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760454A>G | CA351065994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6580A>G (n.856-6580A>G) c.868-6580A>G (n.868-6580A>G) c.862-6580A>G (n.862-6580A>G) c.167A>G (p.Glu56Gly) c.61-6580A>G (n.61-6580A>G) c.442-6580A>G (n.442-6580A>G) | dbSNP |
2 | g.233760454A>T | CA351065996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6580A>T (n.856-6580A>T) c.868-6580A>T (n.868-6580A>T) c.862-6580A>T (n.862-6580A>T) c.167A>T (p.Glu56Val) c.61-6580A>T (n.61-6580A>T) c.442-6580A>T (n.442-6580A>T) | |
2 | g.233760455A>C | CA351065998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6579A>C (n.856-6579A>C) c.868-6579A>C (n.868-6579A>C) c.862-6579A>C (n.862-6579A>C) c.168A>C (p.Glu56Asp) c.61-6579A>C (n.61-6579A>C) c.442-6579A>C (n.442-6579A>C) | |
2 | g.233760455A>G | CA431960114 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6579A>G (n.856-6579A>G) c.868-6579A>G (n.868-6579A>G) c.862-6579A>G (n.862-6579A>G) c.168A>G (p.Glu56=) c.61-6579A>G (n.61-6579A>G) c.442-6579A>G (n.442-6579A>G) | |
2 | g.233760455A>T | CA351066000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6579A>T (n.856-6579A>T) c.868-6579A>T (n.868-6579A>T) c.862-6579A>T (n.862-6579A>T) c.168A>T (p.Glu56Asp) c.61-6579A>T (n.61-6579A>T) c.442-6579A>T (n.442-6579A>T) | dbSNP gnomAD v4 |
2 | g.233760456A= | CA1335893899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6578A= (n.856-6578A=) c.868-6578A= (n.868-6578A=) c.862-6578A= (n.862-6578A=) c.169A= (p.Ile57=) c.61-6578A= (n.61-6578A=) c.442-6578A= (n.442-6578A=) | |
2 | g.233760456A>C | CA351066001 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6578A>C (n.856-6578A>C) c.868-6578A>C (n.868-6578A>C) c.862-6578A>C (n.862-6578A>C) c.169A>C (p.Ile57Leu) c.61-6578A>C (n.61-6578A>C) c.442-6578A>C (n.442-6578A>C) |