Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760662T>A | CA431960391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>A (n.856-6372T>A) c.868-6372T>A (n.868-6372T>A) c.862-6372T>A (n.862-6372T>A) c.375T>A (p.Ser125=) c.61-6372T>A (n.61-6372T>A) c.442-6372T>A (n.442-6372T>A) | |
2 | g.233760662T>C | CA431960390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>C (n.856-6372T>C) c.868-6372T>C (n.868-6372T>C) c.862-6372T>C (n.862-6372T>C) c.375T>C (p.Ser125=) c.61-6372T>C (n.61-6372T>C) c.442-6372T>C (n.442-6372T>C) | |
2 | g.233760662T>G | CA431960392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>G (n.856-6372T>G) c.868-6372T>G (n.868-6372T>G) c.862-6372T>G (n.862-6372T>G) c.375T>G (p.Ser125=) c.61-6372T>G (n.61-6372T>G) c.442-6372T>G (n.442-6372T>G) | |
2 | g.233760663G>A | CA351066537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>A (n.856-6371G>A) c.868-6371G>A (n.868-6371G>A) c.862-6371G>A (n.862-6371G>A) c.376G>A (p.Gly126Ser) c.61-6371G>A (n.61-6371G>A) c.442-6371G>A (n.442-6371G>A) | gnomAD v4 |
2 | g.233760663G>C | CA351066538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>C (n.856-6371G>C) c.868-6371G>C (n.868-6371G>C) c.862-6371G>C (n.862-6371G>C) c.376G>C (p.Gly126Arg) c.61-6371G>C (n.61-6371G>C) c.442-6371G>C (n.442-6371G>C) | |
2 | g.233760663G>T | CA351066539 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>T (n.856-6371G>T) c.868-6371G>T (n.868-6371G>T) c.862-6371G>T (n.862-6371G>T) c.376G>T (p.Gly126Cys) c.61-6371G>T (n.61-6371G>T) c.442-6371G>T (n.442-6371G>T) | |
2 | g.233760664G>A | CA351066540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>A (n.856-6370G>A) c.868-6370G>A (n.868-6370G>A) c.862-6370G>A (n.862-6370G>A) c.377G>A (p.Gly126Asp) c.61-6370G>A (n.61-6370G>A) c.442-6370G>A (n.442-6370G>A) | |
2 | g.233760664G>C | CA351066541 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>C (n.856-6370G>C) c.868-6370G>C (n.868-6370G>C) c.862-6370G>C (n.862-6370G>C) c.377G>C (p.Gly126Ala) c.61-6370G>C (n.61-6370G>C) c.442-6370G>C (n.442-6370G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760664G= | CA1335889313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G= (n.856-6370G=) c.868-6370G= (n.868-6370G=) c.862-6370G= (n.862-6370G=) c.377G= (p.Gly126=) c.61-6370G= (n.61-6370G=) c.442-6370G= (n.442-6370G=) | |
2 | g.233760664G>T | CA351066542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>T (n.856-6370G>T) c.868-6370G>T (n.868-6370G>T) c.862-6370G>T (n.862-6370G>T) c.377G>T (p.Gly126Val) c.61-6370G>T (n.61-6370G>T) c.442-6370G>T (n.442-6370G>T) | gnomAD v4 |
2 | g.233760665C>A | CA431960394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>A (n.856-6369C>A) c.868-6369C>A (n.868-6369C>A) c.862-6369C>A (n.862-6369C>A) c.378C>A (p.Gly126=) c.61-6369C>A (n.61-6369C>A) c.442-6369C>A (n.442-6369C>A) | |
2 | g.233760665C= | CA1335889315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C= (n.856-6369C=) c.868-6369C= (n.868-6369C=) c.862-6369C= (n.862-6369C=) c.378C= (p.Gly126=) c.61-6369C= (n.61-6369C=) c.442-6369C= (n.442-6369C=) | |
2 | g.233760665C>G | CA431960393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>G (n.856-6369C>G) c.868-6369C>G (n.868-6369C>G) c.862-6369C>G (n.862-6369C>G) c.378C>G (p.Gly126=) c.61-6369C>G (n.61-6369C>G) c.442-6369C>G (n.442-6369C>G) | |
2 | g.233760665C>T | CA2179817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>T (n.856-6369C>T) c.868-6369C>T (n.868-6369C>T) c.862-6369C>T (n.862-6369C>T) c.378C>T (p.Gly126=) c.61-6369C>T (n.61-6369C>T) c.442-6369C>T (n.442-6369C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760666T>A | CA351066545 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>A (n.856-6368T>A) c.868-6368T>A (n.868-6368T>A) c.862-6368T>A (n.862-6368T>A) c.379T>A (p.Cys127Ser) c.61-6368T>A (n.61-6368T>A) c.442-6368T>A (n.442-6368T>A) | |
2 | g.233760666T>C | CA351066543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>C (n.856-6368T>C) c.868-6368T>C (n.868-6368T>C) c.862-6368T>C (n.862-6368T>C) c.379T>C (p.Cys127Arg) c.61-6368T>C (n.61-6368T>C) c.442-6368T>C (n.442-6368T>C) | |
2 | g.233760666T>G | CA351066544 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>G (n.856-6368T>G) c.868-6368T>G (n.868-6368T>G) c.862-6368T>G (n.862-6368T>G) c.379T>G (p.Cys127Gly) c.61-6368T>G (n.61-6368T>G) c.442-6368T>G (n.442-6368T>G) | |
2 | g.233760667G>A | CA351066546 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>A (n.856-6367G>A) c.868-6367G>A (n.868-6367G>A) c.862-6367G>A (n.862-6367G>A) c.380G>A (p.Cys127Tyr) c.61-6367G>A (n.61-6367G>A) c.442-6367G>A (n.442-6367G>A) | |
2 | g.233760667G>C | CA67589862 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>C (n.856-6367G>C) c.868-6367G>C (n.868-6367G>C) c.862-6367G>C (n.862-6367G>C) c.380G>C (p.Cys127Ser) c.61-6367G>C (n.61-6367G>C) c.442-6367G>C (n.442-6367G>C) | dbSNP |
2 | g.233760667G= | CA1335889317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G= (n.856-6367G=) c.868-6367G= (n.868-6367G=) c.862-6367G= (n.862-6367G=) c.380G= (p.Cys127=) c.61-6367G= (n.61-6367G=) c.442-6367G= (n.442-6367G=) | |
2 | g.233760667G>T | CA351066547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>T (n.856-6367G>T) c.868-6367G>T (n.868-6367G>T) c.862-6367G>T (n.862-6367G>T) c.380G>T (p.Cys127Phe) c.61-6367G>T (n.61-6367G>T) c.442-6367G>T (n.442-6367G>T) | |
2 | g.233760667_233760668insGG | CA2499215796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367_856-6366insGG (n.856-6367_856-6366insGG) c.868-6367_868-6366insGG (n.868-6367_868-6366insGG) c.862-6367_862-6366insGG (n.862-6367_862-6366insGG) c.380_381insGG (p.Cys127TrpfsTer24) c.61-6367_61-6366insGG (n.61-6367_61-6366insGG) c.442-6367_442-6366insGG (n.442-6367_442-6366insGG) | ClinVar dbSNP |
2 | g.233760668T>A | CA351066548 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>A (n.856-6366T>A) c.868-6366T>A (n.868-6366T>A) c.862-6366T>A (n.862-6366T>A) c.381T>A (p.Cys127Ter) c.61-6366T>A (n.61-6366T>A) c.442-6366T>A (n.442-6366T>A) | |
2 | g.233760668T>C | CA431960395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>C (n.856-6366T>C) c.868-6366T>C (n.868-6366T>C) c.862-6366T>C (n.862-6366T>C) c.381T>C (p.Cys127=) c.61-6366T>C (n.61-6366T>C) c.442-6366T>C (n.442-6366T>C) | gnomAD v4 |
2 | g.233760668T>G | CA351066549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>G (n.856-6366T>G) c.868-6366T>G (n.868-6366T>G) c.862-6366T>G (n.862-6366T>G) c.381T>G (p.Cys127Trp) c.61-6366T>G (n.61-6366T>G) c.442-6366T>G (n.442-6366T>G) | |
2 | g.233760669T>A | CA351066550 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>A (n.856-6365T>A) c.868-6365T>A (n.868-6365T>A) c.862-6365T>A (n.862-6365T>A) c.382T>A (p.Ser128Thr) c.61-6365T>A (n.61-6365T>A) c.442-6365T>A (n.442-6365T>A) | |
2 | g.233760669T>C | CA351066551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>C (n.856-6365T>C) c.868-6365T>C (n.868-6365T>C) c.862-6365T>C (n.862-6365T>C) c.382T>C (p.Ser128Pro) c.61-6365T>C (n.61-6365T>C) c.442-6365T>C (n.442-6365T>C) | |
2 | g.233760669T>G | CA351066552 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>G (n.856-6365T>G) c.868-6365T>G (n.868-6365T>G) c.862-6365T>G (n.862-6365T>G) c.382T>G (p.Ser128Ala) c.61-6365T>G (n.61-6365T>G) c.442-6365T>G (n.442-6365T>G) | |
2 | g.233760670C>A | CA351066553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>A (n.856-6364C>A) c.868-6364C>A (n.868-6364C>A) c.862-6364C>A (n.862-6364C>A) c.383C>A (p.Ser128Tyr) c.61-6364C>A (n.61-6364C>A) c.442-6364C>A (n.442-6364C>A) | |
2 | g.233760670C>G | CA351066554 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>G (n.856-6364C>G) c.868-6364C>G (n.868-6364C>G) c.862-6364C>G (n.862-6364C>G) c.383C>G (p.Ser128Cys) c.61-6364C>G (n.61-6364C>G) c.442-6364C>G (n.442-6364C>G) | |
2 | g.233760670C>T | CA351066555 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>T (n.856-6364C>T) c.868-6364C>T (n.868-6364C>T) c.862-6364C>T (n.862-6364C>T) c.383C>T (p.Ser128Phe) c.61-6364C>T (n.61-6364C>T) c.442-6364C>T (n.442-6364C>T) | gnomAD v4 |
2 | g.233760671C>A | CA431960396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>A (n.856-6363C>A) c.868-6363C>A (n.868-6363C>A) c.862-6363C>A (n.862-6363C>A) c.384C>A (p.Ser128=) c.61-6363C>A (n.61-6363C>A) c.442-6363C>A (n.442-6363C>A) | |
2 | g.233760671C>G | CA431960398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>G (n.856-6363C>G) c.868-6363C>G (n.868-6363C>G) c.862-6363C>G (n.862-6363C>G) c.384C>G (p.Ser128=) c.61-6363C>G (n.61-6363C>G) c.442-6363C>G (n.442-6363C>G) | |
2 | g.233760671C>T | CA431960397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>T (n.856-6363C>T) c.868-6363C>T (n.868-6363C>T) c.862-6363C>T (n.862-6363C>T) c.384C>T (p.Ser128=) c.61-6363C>T (n.61-6363C>T) c.442-6363C>T (n.442-6363C>T) | gnomAD v4 |
2 | g.233760672C>A | CA351066558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>A (n.856-6362C>A) c.868-6362C>A (n.868-6362C>A) c.862-6362C>A (n.862-6362C>A) c.385C>A (p.His129Asn) c.61-6362C>A (n.61-6362C>A) c.442-6362C>A (n.442-6362C>A) | |
2 | g.233760672C= | CA1335889320 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C= (n.856-6362C=) c.868-6362C= (n.868-6362C=) c.862-6362C= (n.862-6362C=) c.385C= (p.His129=) c.61-6362C= (n.61-6362C=) c.442-6362C= (n.442-6362C=) | |
2 | g.233760672C>G | CA351066557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>G (n.856-6362C>G) c.868-6362C>G (n.868-6362C>G) c.862-6362C>G (n.862-6362C>G) c.385C>G (p.His129Asp) c.61-6362C>G (n.61-6362C>G) c.442-6362C>G (n.442-6362C>G) | |
2 | g.233760672C>T | CA351066556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>T (n.856-6362C>T) c.868-6362C>T (n.868-6362C>T) c.862-6362C>T (n.862-6362C>T) c.385C>T (p.His129Tyr) c.61-6362C>T (n.61-6362C>T) c.442-6362C>T (n.442-6362C>T) | dbSNP |
2 | g.233760673A= | CA1335889322 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A= (n.856-6361A=) c.868-6361A= (n.868-6361A=) c.862-6361A= (n.862-6361A=) c.386A= (p.His129=) c.61-6361A= (n.61-6361A=) c.442-6361A= (n.442-6361A=) | |
2 | g.233760673A>C | CA351066559 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>C (n.856-6361A>C) c.868-6361A>C (n.868-6361A>C) c.862-6361A>C (n.862-6361A>C) c.386A>C (p.His129Pro) c.61-6361A>C (n.61-6361A>C) c.442-6361A>C (n.442-6361A>C) | |
2 | g.233760673A>G | CA351066560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>G (n.856-6361A>G) c.868-6361A>G (n.868-6361A>G) c.862-6361A>G (n.862-6361A>G) c.386A>G (p.His129Arg) c.61-6361A>G (n.61-6361A>G) c.442-6361A>G (n.442-6361A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.233760673A>T | CA351066561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>T (n.856-6361A>T) c.868-6361A>T (n.868-6361A>T) c.862-6361A>T (n.862-6361A>T) c.386A>T (p.His129Leu) c.61-6361A>T (n.61-6361A>T) c.442-6361A>T (n.442-6361A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760674C>A | CA351066562 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>A (n.856-6360C>A) c.868-6360C>A (n.868-6360C>A) c.862-6360C>A (n.862-6360C>A) c.387C>A (p.His129Gln) c.61-6360C>A (n.61-6360C>A) c.442-6360C>A (n.442-6360C>A) | |
2 | g.233760674C= | CA1335889325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C= (n.856-6360C=) c.868-6360C= (n.868-6360C=) c.862-6360C= (n.862-6360C=) c.387C= (p.His129=) c.61-6360C= (n.61-6360C=) c.442-6360C= (n.442-6360C=) | |
2 | g.233760674C>G | CA351066563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>G (n.856-6360C>G) c.868-6360C>G (n.868-6360C>G) c.862-6360C>G (n.862-6360C>G) c.387C>G (p.His129Gln) c.61-6360C>G (n.61-6360C>G) c.442-6360C>G (n.442-6360C>G) | ClinVar dbSNP |
2 | g.233760674C>T | CA431960399 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>T (n.856-6360C>T) c.868-6360C>T (n.868-6360C>T) c.862-6360C>T (n.862-6360C>T) c.387C>T (p.His129=) c.61-6360C>T (n.61-6360C>T) c.442-6360C>T (n.442-6360C>T) | |
2 | g.233760675T>A | CA351066564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>A (n.856-6359T>A) c.868-6359T>A (n.868-6359T>A) c.862-6359T>A (n.862-6359T>A) c.388T>A (p.Leu130Ile) c.61-6359T>A (n.61-6359T>A) c.442-6359T>A (n.442-6359T>A) | |
2 | g.233760675T>C | CA431960400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>C (n.856-6359T>C) c.868-6359T>C (n.868-6359T>C) c.862-6359T>C (n.862-6359T>C) c.388T>C (p.Leu130=) c.61-6359T>C (n.61-6359T>C) c.442-6359T>C (n.442-6359T>C) | |
2 | g.233760675T>G | CA351066565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>G (n.856-6359T>G) c.868-6359T>G (n.868-6359T>G) c.862-6359T>G (n.862-6359T>G) c.388T>G (p.Leu130Val) c.61-6359T>G (n.61-6359T>G) c.442-6359T>G (n.442-6359T>G) | |
2 | g.233760676dup | CA2499215797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6358dup (n.856-6358dup) c.868-6358dup (n.868-6358dup) c.862-6358dup (n.862-6358dup) c.389dup (p.Leu130PhefsTer17) c.61-6358dup (n.61-6358dup) c.442-6358dup (n.442-6358dup) | ClinVar dbSNP |