Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760405_233760410del | CA2754693302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629_856-6624del (n.856-6629_856-6624del) c.868-6629_868-6624del (n.868-6629_868-6624del) c.862-6629_862-6624del (n.862-6629_862-6624del) c.118_123del (p.Trp40_Leu41del) c.61-6629_61-6624del (n.61-6629_61-6624del) c.442-6629_442-6624del (n.442-6629_442-6624del) | |
2 | g.233760410G>A | CA431960078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>A (n.856-6624G>A) c.868-6624G>A (n.868-6624G>A) c.862-6624G>A (n.862-6624G>A) c.123G>A (p.Leu41=) c.61-6624G>A (n.61-6624G>A) c.442-6624G>A (n.442-6624G>A) | dbSNP |
2 | g.233760410G>C | CA431960077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>C (n.856-6624G>C) c.868-6624G>C (n.868-6624G>C) c.862-6624G>C (n.862-6624G>C) c.123G>C (p.Leu41=) c.61-6624G>C (n.61-6624G>C) c.442-6624G>C (n.442-6624G>C) | dbSNP |
2 | g.233760410G= | CA1335893877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G= (n.856-6624G=) c.868-6624G= (n.868-6624G=) c.862-6624G= (n.862-6624G=) c.123G= (p.Leu41=) c.61-6624G= (n.61-6624G=) c.442-6624G= (n.442-6624G=) | |
2 | g.233760410G>T | CA431960076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>T (n.856-6624G>T) c.868-6624G>T (n.868-6624G>T) c.862-6624G>T (n.862-6624G>T) c.123G>T (p.Leu41=) c.61-6624G>T (n.61-6624G>T) c.442-6624G>T (n.442-6624G>T) | dbSNP |
2 | g.233760411A= | CA1335893878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A= (n.856-6623A=) c.868-6623A= (n.868-6623A=) c.862-6623A= (n.862-6623A=) c.124A= (p.Ser42=) c.61-6623A= (n.61-6623A=) c.442-6623A= (n.442-6623A=) | |
2 | g.233760411A>C | CA351065729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>C (n.856-6623A>C) c.868-6623A>C (n.868-6623A>C) c.862-6623A>C (n.862-6623A>C) c.124A>C (p.Ser42Arg) c.61-6623A>C (n.61-6623A>C) c.442-6623A>C (n.442-6623A>C) | |
2 | g.233760411A>G | CA351065732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>G (n.856-6623A>G) c.868-6623A>G (n.868-6623A>G) c.862-6623A>G (n.862-6623A>G) c.124A>G (p.Ser42Gly) c.61-6623A>G (n.61-6623A>G) c.442-6623A>G (n.442-6623A>G) | dbSNP gnomAD v4 |
2 | g.233760411A>T | CA351065735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>T (n.856-6623A>T) c.868-6623A>T (n.868-6623A>T) c.862-6623A>T (n.862-6623A>T) c.124A>T (p.Ser42Cys) c.61-6623A>T (n.61-6623A>T) c.442-6623A>T (n.442-6623A>T) | dbSNP |
2 | g.233760412G>A | CA2179778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>A (n.856-6622G>A) c.868-6622G>A (n.868-6622G>A) c.862-6622G>A (n.862-6622G>A) c.125G>A (p.Ser42Asn) c.61-6622G>A (n.61-6622G>A) c.442-6622G>A (n.442-6622G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760412G>C | CA351065739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>C (n.856-6622G>C) c.868-6622G>C (n.868-6622G>C) c.862-6622G>C (n.862-6622G>C) c.125G>C (p.Ser42Thr) c.61-6622G>C (n.61-6622G>C) c.442-6622G>C (n.442-6622G>C) | dbSNP |
2 | g.233760412G= | CA1335893879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G= (n.856-6622G=) c.868-6622G= (n.868-6622G=) c.862-6622G= (n.862-6622G=) c.125G= (p.Ser42=) c.61-6622G= (n.61-6622G=) c.442-6622G= (n.442-6622G=) | |
2 | g.233760412G>T | CA351065742 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>T (n.856-6622G>T) c.868-6622G>T (n.868-6622G>T) c.862-6622G>T (n.862-6622G>T) c.125G>T (p.Ser42Ile) c.61-6622G>T (n.61-6622G>T) c.442-6622G>T (n.442-6622G>T) | |
2 | g.233760413C>A | CA351065745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>A (n.856-6621C>A) c.868-6621C>A (n.868-6621C>A) c.862-6621C>A (n.862-6621C>A) c.126C>A (p.Ser42Arg) c.61-6621C>A (n.61-6621C>A) c.442-6621C>A (n.442-6621C>A) | dbSNP |
2 | g.233760413C>G | CA351065748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>G (n.856-6621C>G) c.868-6621C>G (n.868-6621C>G) c.862-6621C>G (n.862-6621C>G) c.126C>G (p.Ser42Arg) c.61-6621C>G (n.61-6621C>G) c.442-6621C>G (n.442-6621C>G) | |
2 | g.233760413C>T | CA431960080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>T (n.856-6621C>T) c.868-6621C>T (n.868-6621C>T) c.862-6621C>T (n.862-6621C>T) c.126C>T (p.Ser42=) c.61-6621C>T (n.61-6621C>T) c.442-6621C>T (n.442-6621C>T) | dbSNP COSMIC COSMIC |
2 | g.233760414A>C | CA351065755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>C (n.856-6620A>C) c.868-6620A>C (n.868-6620A>C) c.862-6620A>C (n.862-6620A>C) c.127A>C (p.Met43Leu) c.61-6620A>C (n.61-6620A>C) c.442-6620A>C (n.442-6620A>C) | |
2 | g.233760414A>G | CA351065752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>G (n.856-6620A>G) c.868-6620A>G (n.868-6620A>G) c.862-6620A>G (n.862-6620A>G) c.127A>G (p.Met43Val) c.61-6620A>G (n.61-6620A>G) c.442-6620A>G (n.442-6620A>G) | |
2 | g.233760414A>T | CA351065754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>T (n.856-6620A>T) c.868-6620A>T (n.868-6620A>T) c.862-6620A>T (n.862-6620A>T) c.127A>T (p.Met43Leu) c.61-6620A>T (n.61-6620A>T) c.442-6620A>T (n.442-6620A>T) | dbSNP |
2 | g.233760415del | CA2663717381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619del (n.856-6619del) c.868-6619del (n.868-6619del) c.862-6619del (n.862-6619del) c.128del (p.Met43SerfsTer15) c.61-6619del (n.61-6619del) c.442-6619del (n.442-6619del) | gnomAD v4 |
2 | g.233760415T>A | CA351065765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>A (n.856-6619T>A) c.868-6619T>A (n.868-6619T>A) c.862-6619T>A (n.862-6619T>A) c.128T>A (p.Met43Lys) c.61-6619T>A (n.61-6619T>A) c.442-6619T>A (n.442-6619T>A) | dbSNP gnomAD v4 |
2 | g.233760415T>C | CA351065773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>C (n.856-6619T>C) c.868-6619T>C (n.868-6619T>C) c.862-6619T>C (n.862-6619T>C) c.128T>C (p.Met43Thr) c.61-6619T>C (n.61-6619T>C) c.442-6619T>C (n.442-6619T>C) | gnomAD v4 |
2 | g.233760415T>G | CA351065775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>G (n.856-6619T>G) c.868-6619T>G (n.868-6619T>G) c.862-6619T>G (n.862-6619T>G) c.128T>G (p.Met43Arg) c.61-6619T>G (n.61-6619T>G) c.442-6619T>G (n.442-6619T>G) | |
2 | g.233760416G>A | CA351065778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>A (n.856-6618G>A) c.868-6618G>A (n.868-6618G>A) c.862-6618G>A (n.862-6618G>A) c.129G>A (p.Met43Ile) c.61-6618G>A (n.61-6618G>A) c.442-6618G>A (n.442-6618G>A) | dbSNP gnomAD v4 |
2 | g.233760416G>C | CA351065781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>C (n.856-6618G>C) c.868-6618G>C (n.868-6618G>C) c.862-6618G>C (n.862-6618G>C) c.129G>C (p.Met43Ile) c.61-6618G>C (n.61-6618G>C) c.442-6618G>C (n.442-6618G>C) | dbSNP |
2 | g.233760416G= | CA1335893880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G= (n.856-6618G=) c.868-6618G= (n.868-6618G=) c.862-6618G= (n.862-6618G=) c.129G= (p.Met43=) c.61-6618G= (n.61-6618G=) c.442-6618G= (n.442-6618G=) | |
2 | g.233760416G>T | CA351065783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>T (n.856-6618G>T) c.868-6618G>T (n.868-6618G>T) c.862-6618G>T (n.862-6618G>T) c.129G>T (p.Met43Ile) c.61-6618G>T (n.61-6618G>T) c.442-6618G>T (n.442-6618G>T) | |
2 | g.233760417C>A | CA351065785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>A (n.856-6617C>A) c.868-6617C>A (n.868-6617C>A) c.862-6617C>A (n.862-6617C>A) c.130C>A (p.Leu44Ile) c.61-6617C>A (n.61-6617C>A) c.442-6617C>A (n.442-6617C>A) | dbSNP |
2 | g.233760417C>G | CA351065787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>G (n.856-6617C>G) c.868-6617C>G (n.868-6617C>G) c.862-6617C>G (n.862-6617C>G) c.130C>G (p.Leu44Val) c.61-6617C>G (n.61-6617C>G) c.442-6617C>G (n.442-6617C>G) | dbSNP |
2 | g.233760417C>T | CA351065791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>T (n.856-6617C>T) c.868-6617C>T (n.868-6617C>T) c.862-6617C>T (n.862-6617C>T) c.130C>T (p.Leu44Phe) c.61-6617C>T (n.61-6617C>T) c.442-6617C>T (n.442-6617C>T) | dbSNP |
2 | g.233760418_233760425del | CA2663717382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616_856-6609del (n.856-6616_856-6609del) c.868-6616_868-6609del (n.868-6616_868-6609del) c.862-6616_862-6609del (n.862-6616_862-6609del) c.131_138del (p.Leu44HisfsTer10) c.61-6616_61-6609del (n.61-6616_61-6609del) c.442-6616_442-6609del (n.442-6616_442-6609del) | gnomAD v4 |
2 | g.233760418T>A | CA351065795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>A (n.856-6616T>A) c.868-6616T>A (n.868-6616T>A) c.862-6616T>A (n.862-6616T>A) c.131T>A (p.Leu44His) c.61-6616T>A (n.61-6616T>A) c.442-6616T>A (n.442-6616T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760418T>C | CA351065797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>C (n.856-6616T>C) c.868-6616T>C (n.868-6616T>C) c.862-6616T>C (n.862-6616T>C) c.131T>C (p.Leu44Pro) c.61-6616T>C (n.61-6616T>C) c.442-6616T>C (n.442-6616T>C) | |
2 | g.233760418T>G | CA351065798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>G (n.856-6616T>G) c.868-6616T>G (n.868-6616T>G) c.862-6616T>G (n.862-6616T>G) c.131T>G (p.Leu44Arg) c.61-6616T>G (n.61-6616T>G) c.442-6616T>G (n.442-6616T>G) | |
2 | g.233760418T= | CA1335893881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T= (n.856-6616T=) c.868-6616T= (n.868-6616T=) c.862-6616T= (n.862-6616T=) c.131T= (p.Leu44=) c.61-6616T= (n.61-6616T=) c.442-6616T= (n.442-6616T=) | |
2 | g.233760419T>A | CA431960087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>A (n.856-6615T>A) c.868-6615T>A (n.868-6615T>A) c.862-6615T>A (n.862-6615T>A) c.132T>A (p.Leu44=) c.61-6615T>A (n.61-6615T>A) c.442-6615T>A (n.442-6615T>A) | |
2 | g.233760419T>C | CA431960085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>C (n.856-6615T>C) c.868-6615T>C (n.868-6615T>C) c.862-6615T>C (n.862-6615T>C) c.132T>C (p.Leu44=) c.61-6615T>C (n.61-6615T>C) c.442-6615T>C (n.442-6615T>C) | |
2 | g.233760419T>G | CA431960086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>G (n.856-6615T>G) c.868-6615T>G (n.868-6615T>G) c.862-6615T>G (n.862-6615T>G) c.132T>G (p.Leu44=) c.61-6615T>G (n.61-6615T>G) c.442-6615T>G (n.442-6615T>G) | |
2 | g.233760420G>A | CA351065801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>A (n.856-6614G>A) c.868-6614G>A (n.868-6614G>A) c.862-6614G>A (n.862-6614G>A) c.133G>A (p.Gly45Arg) c.61-6614G>A (n.61-6614G>A) c.442-6614G>A (n.442-6614G>A) | dbSNP |
2 | g.233760420G>C | CA351065807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>C (n.856-6614G>C) c.868-6614G>C (n.868-6614G>C) c.862-6614G>C (n.862-6614G>C) c.133G>C (p.Gly45Arg) c.61-6614G>C (n.61-6614G>C) c.442-6614G>C (n.442-6614G>C) | dbSNP |
2 | g.233760420G= | CA1335893882 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G= (n.856-6614G=) c.868-6614G= (n.868-6614G=) c.862-6614G= (n.862-6614G=) c.133G= (p.Gly45=) c.61-6614G= (n.61-6614G=) c.442-6614G= (n.442-6614G=) | |
2 | g.233760420G>T | CA351065804 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>T (n.856-6614G>T) c.868-6614G>T (n.868-6614G>T) c.862-6614G>T (n.862-6614G>T) c.133G>T (p.Gly45Trp) c.61-6614G>T (n.61-6614G>T) c.442-6614G>T (n.442-6614G>T) | dbSNP |
2 | g.233760421G>A | CA351065808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>A (n.856-6613G>A) c.868-6613G>A (n.868-6613G>A) c.862-6613G>A (n.862-6613G>A) c.134G>A (p.Gly45Glu) c.61-6613G>A (n.61-6613G>A) c.442-6613G>A (n.442-6613G>A) | dbSNP |
2 | g.233760421G>C | CA351065811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>C (n.856-6613G>C) c.868-6613G>C (n.868-6613G>C) c.862-6613G>C (n.862-6613G>C) c.134G>C (p.Gly45Ala) c.61-6613G>C (n.61-6613G>C) c.442-6613G>C (n.442-6613G>C) | |
2 | g.233760421G>T | CA351065814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>T (n.856-6613G>T) c.868-6613G>T (n.868-6613G>T) c.862-6613G>T (n.862-6613G>T) c.134G>T (p.Gly45Val) c.61-6613G>T (n.61-6613G>T) c.442-6613G>T (n.442-6613G>T) | dbSNP |
2 | g.233760422G>A | CA431960088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>A (n.856-6612G>A) c.868-6612G>A (n.868-6612G>A) c.862-6612G>A (n.862-6612G>A) c.135G>A (p.Gly45=) c.61-6612G>A (n.61-6612G>A) c.442-6612G>A (n.442-6612G>A) | dbSNP |
2 | g.233760422G>C | CA431960089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>C (n.856-6612G>C) c.868-6612G>C (n.868-6612G>C) c.862-6612G>C (n.862-6612G>C) c.135G>C (p.Gly45=) c.61-6612G>C (n.61-6612G>C) c.442-6612G>C (n.442-6612G>C) | |
2 | g.233760422G>T | CA431960090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>T (n.856-6612G>T) c.868-6612G>T (n.868-6612G>T) c.862-6612G>T (n.862-6612G>T) c.135G>T (p.Gly45=) c.61-6612G>T (n.61-6612G>T) c.442-6612G>T (n.442-6612G>T) | |
2 | g.233760423G>A | CA351065817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6611G>A (n.856-6611G>A) c.868-6611G>A (n.868-6611G>A) c.862-6611G>A (n.862-6611G>A) c.136G>A (p.Ala46Thr) c.61-6611G>A (n.61-6611G>A) c.442-6611G>A (n.442-6611G>A) | |
2 | g.233760423G>C | CA351065819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6611G>C (n.856-6611G>C) c.868-6611G>C (n.868-6611G>C) c.862-6611G>C (n.862-6611G>C) c.136G>C (p.Ala46Pro) c.61-6611G>C (n.61-6611G>C) c.442-6611G>C (n.442-6611G>C) |