Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760616T>A | CA351066434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>A (n.856-6418T>A) c.868-6418T>A (n.868-6418T>A) c.862-6418T>A (n.862-6418T>A) c.329T>A (p.Ile110Asn) c.61-6418T>A (n.61-6418T>A) c.442-6418T>A (n.442-6418T>A) | |
2 | g.233760616T>C | CA351066435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>C (n.856-6418T>C) c.868-6418T>C (n.868-6418T>C) c.862-6418T>C (n.862-6418T>C) c.329T>C (p.Ile110Thr) c.61-6418T>C (n.61-6418T>C) c.442-6418T>C (n.442-6418T>C) | |
2 | g.233760616T>G | CA351066436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>G (n.856-6418T>G) c.868-6418T>G (n.868-6418T>G) c.862-6418T>G (n.862-6418T>G) c.329T>G (p.Ile110Ser) c.61-6418T>G (n.61-6418T>G) c.442-6418T>G (n.442-6418T>G) | |
2 | g.233760617C>A | CA431960322 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>A (n.856-6417C>A) c.868-6417C>A (n.868-6417C>A) c.862-6417C>A (n.862-6417C>A) c.330C>A (p.Ile110=) c.61-6417C>A (n.61-6417C>A) c.442-6417C>A (n.442-6417C>A) | |
2 | g.233760617C>G | CA351066437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>G (n.856-6417C>G) c.868-6417C>G (n.868-6417C>G) c.862-6417C>G (n.862-6417C>G) c.330C>G (p.Ile110Met) c.61-6417C>G (n.61-6417C>G) c.442-6417C>G (n.442-6417C>G) | |
2 | g.233760617C>T | CA431960323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>T (n.856-6417C>T) c.868-6417C>T (n.868-6417C>T) c.862-6417C>T (n.862-6417C>T) c.330C>T (p.Ile110=) c.61-6417C>T (n.61-6417C>T) c.442-6417C>T (n.442-6417C>T) | COSMIC COSMIC |
2 | g.233760618A= | CA1335889259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A= (n.856-6416A=) c.868-6416A= (n.868-6416A=) c.862-6416A= (n.862-6416A=) c.331A= (p.Lys111=) c.61-6416A= (n.61-6416A=) c.442-6416A= (n.442-6416A=) | |
2 | g.233760618A>C | CA67589794 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>C (n.856-6416A>C) c.868-6416A>C (n.868-6416A>C) c.862-6416A>C (n.862-6416A>C) c.331A>C (p.Lys111Gln) c.61-6416A>C (n.61-6416A>C) c.442-6416A>C (n.442-6416A>C) | dbSNP gnomAD v4 |
2 | g.233760618A>G | CA351066438 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>G (n.856-6416A>G) c.868-6416A>G (n.868-6416A>G) c.862-6416A>G (n.862-6416A>G) c.331A>G (p.Lys111Glu) c.61-6416A>G (n.61-6416A>G) c.442-6416A>G (n.442-6416A>G) | |
2 | g.233760618A>T | CA351066439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>T (n.856-6416A>T) c.868-6416A>T (n.868-6416A>T) c.862-6416A>T (n.862-6416A>T) c.331A>T (p.Lys111Ter) c.61-6416A>T (n.61-6416A>T) c.442-6416A>T (n.442-6416A>T) | |
2 | g.233760619A>C | CA351066440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>C (n.856-6415A>C) c.868-6415A>C (n.868-6415A>C) c.862-6415A>C (n.862-6415A>C) c.332A>C (p.Lys111Thr) c.61-6415A>C (n.61-6415A>C) c.442-6415A>C (n.442-6415A>C) | |
2 | g.233760619A>G | CA351066441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>G (n.856-6415A>G) c.868-6415A>G (n.868-6415A>G) c.862-6415A>G (n.862-6415A>G) c.332A>G (p.Lys111Arg) c.61-6415A>G (n.61-6415A>G) c.442-6415A>G (n.442-6415A>G) | gnomAD v4 |
2 | g.233760619A>T | CA351066442 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>T (n.856-6415A>T) c.868-6415A>T (n.868-6415A>T) c.862-6415A>T (n.862-6415A>T) c.332A>T (p.Lys111Ile) c.61-6415A>T (n.61-6415A>T) c.442-6415A>T (n.442-6415A>T) | |
2 | g.233760620A>C | CA351066443 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>C (n.856-6414A>C) c.868-6414A>C (n.868-6414A>C) c.862-6414A>C (n.862-6414A>C) c.333A>C (p.Lys111Asn) c.61-6414A>C (n.61-6414A>C) c.442-6414A>C (n.442-6414A>C) | |
2 | g.233760620A>G | CA431960328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>G (n.856-6414A>G) c.868-6414A>G (n.868-6414A>G) c.862-6414A>G (n.862-6414A>G) c.333A>G (p.Lys111=) c.61-6414A>G (n.61-6414A>G) c.442-6414A>G (n.442-6414A>G) | |
2 | g.233760620A>T | CA351066444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>T (n.856-6414A>T) c.868-6414A>T (n.868-6414A>T) c.862-6414A>T (n.862-6414A>T) c.333A>T (p.Lys111Asn) c.61-6414A>T (n.61-6414A>T) c.442-6414A>T (n.442-6414A>T) | |
2 | g.233760621A>C | CA351066445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>C (n.856-6413A>C) c.868-6413A>C (n.868-6413A>C) c.862-6413A>C (n.862-6413A>C) c.334A>C (p.Thr112Pro) c.61-6413A>C (n.61-6413A>C) c.442-6413A>C (n.442-6413A>C) | |
2 | g.233760621A>G | CA351066447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>G (n.856-6413A>G) c.868-6413A>G (n.868-6413A>G) c.862-6413A>G (n.862-6413A>G) c.334A>G (p.Thr112Ala) c.61-6413A>G (n.61-6413A>G) c.442-6413A>G (n.442-6413A>G) | gnomAD v4 |
2 | g.233760621A>T | CA351066446 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>T (n.856-6413A>T) c.868-6413A>T (n.868-6413A>T) c.862-6413A>T (n.862-6413A>T) c.334A>T (p.Thr112Ser) c.61-6413A>T (n.61-6413A>T) c.442-6413A>T (n.442-6413A>T) | |
2 | g.233760622C>A | CA351066448 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>A (n.856-6412C>A) c.868-6412C>A (n.868-6412C>A) c.862-6412C>A (n.862-6412C>A) c.335C>A (p.Thr112Lys) c.61-6412C>A (n.61-6412C>A) c.442-6412C>A (n.442-6412C>A) | |
2 | g.233760622C= | CA1335889262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C= (n.856-6412C=) c.868-6412C= (n.868-6412C=) c.862-6412C= (n.862-6412C=) c.335C= (p.Thr112=) c.61-6412C= (n.61-6412C=) c.442-6412C= (n.442-6412C=) | |
2 | g.233760622C>G | CA2179807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>G (n.856-6412C>G) c.868-6412C>G (n.868-6412C>G) c.862-6412C>G (n.862-6412C>G) c.335C>G (p.Thr112Arg) c.61-6412C>G (n.61-6412C>G) c.442-6412C>G (n.442-6412C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760622C>T | CA351066449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>T (n.856-6412C>T) c.868-6412C>T (n.868-6412C>T) c.862-6412C>T (n.862-6412C>T) c.335C>T (p.Thr112Ile) c.61-6412C>T (n.61-6412C>T) c.442-6412C>T (n.442-6412C>T) | |
2 | g.233760623A= | CA1335889264 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A= (n.856-6411A=) c.868-6411A= (n.868-6411A=) c.862-6411A= (n.862-6411A=) c.336A= (p.Thr112=) c.61-6411A= (n.61-6411A=) c.442-6411A= (n.442-6411A=) | |
2 | g.233760623A>C | CA431960335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>C (n.856-6411A>C) c.868-6411A>C (n.868-6411A>C) c.862-6411A>C (n.862-6411A>C) c.336A>C (p.Thr112=) c.61-6411A>C (n.61-6411A>C) c.442-6411A>C (n.442-6411A>C) | |
2 | g.233760623A>G | CA2179808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>G (n.856-6411A>G) c.868-6411A>G (n.868-6411A>G) c.862-6411A>G (n.862-6411A>G) c.336A>G (p.Thr112=) c.61-6411A>G (n.61-6411A>G) c.442-6411A>G (n.442-6411A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760623A>T | CA431960334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>T (n.856-6411A>T) c.868-6411A>T (n.868-6411A>T) c.862-6411A>T (n.862-6411A>T) c.336A>T (p.Thr112=) c.61-6411A>T (n.61-6411A>T) c.442-6411A>T (n.442-6411A>T) | |
2 | g.233760624T>A | CA351066450 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>A (n.856-6410T>A) c.868-6410T>A (n.868-6410T>A) c.862-6410T>A (n.862-6410T>A) c.337T>A (p.Tyr113Asn) c.61-6410T>A (n.61-6410T>A) c.442-6410T>A (n.442-6410T>A) | |
2 | g.233760624T>C | CA351066451 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>C (n.856-6410T>C) c.868-6410T>C (n.868-6410T>C) c.862-6410T>C (n.862-6410T>C) c.337T>C (p.Tyr113His) c.61-6410T>C (n.61-6410T>C) c.442-6410T>C (n.442-6410T>C) | |
2 | g.233760624T>G | CA351066452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>G (n.856-6410T>G) c.868-6410T>G (n.868-6410T>G) c.862-6410T>G (n.862-6410T>G) c.337T>G (p.Tyr113Asp) c.61-6410T>G (n.61-6410T>G) c.442-6410T>G (n.442-6410T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760624T= | CA1335889266 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T= (n.856-6410T=) c.868-6410T= (n.868-6410T=) c.862-6410T= (n.862-6410T=) c.337T= (p.Tyr113=) c.61-6410T= (n.61-6410T=) c.442-6410T= (n.442-6410T=) | |
2 | g.233760625A>C | CA351066453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>C (n.856-6409A>C) c.868-6409A>C (n.868-6409A>C) c.862-6409A>C (n.862-6409A>C) c.338A>C (p.Tyr113Ser) c.61-6409A>C (n.61-6409A>C) c.442-6409A>C (n.442-6409A>C) | |
2 | g.233760625A>G | CA351066454 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>G (n.856-6409A>G) c.868-6409A>G (n.868-6409A>G) c.862-6409A>G (n.862-6409A>G) c.338A>G (p.Tyr113Cys) c.61-6409A>G (n.61-6409A>G) c.442-6409A>G (n.442-6409A>G) | |
2 | g.233760625A>T | CA351066455 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>T (n.856-6409A>T) c.868-6409A>T (n.868-6409A>T) c.862-6409A>T (n.862-6409A>T) c.338A>T (p.Tyr113Phe) c.61-6409A>T (n.61-6409A>T) c.442-6409A>T (n.442-6409A>T) | |
2 | g.233760626C>A | CA351066456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>A (n.856-6408C>A) c.868-6408C>A (n.868-6408C>A) c.862-6408C>A (n.862-6408C>A) c.339C>A (p.Tyr113Ter) c.61-6408C>A (n.61-6408C>A) c.442-6408C>A (n.442-6408C>A) | dbSNP |
2 | g.233760626C= | CA1335889268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C= (n.856-6408C=) c.868-6408C= (n.868-6408C=) c.862-6408C= (n.862-6408C=) c.339C= (p.Tyr113=) c.61-6408C= (n.61-6408C=) c.442-6408C= (n.442-6408C=) | |
2 | g.233760626C>G | CA351066457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>G (n.856-6408C>G) c.868-6408C>G (n.868-6408C>G) c.862-6408C>G (n.862-6408C>G) c.339C>G (p.Tyr113Ter) c.61-6408C>G (n.61-6408C>G) c.442-6408C>G (n.442-6408C>G) | |
2 | g.233760626C>T | CA431960338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>T (n.856-6408C>T) c.868-6408C>T (n.868-6408C>T) c.862-6408C>T (n.862-6408C>T) c.339C>T (p.Tyr113=) c.61-6408C>T (n.61-6408C>T) c.442-6408C>T (n.442-6408C>T) | |
2 | g.233760627A>C | CA351066460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>C (n.856-6407A>C) c.868-6407A>C (n.868-6407A>C) c.862-6407A>C (n.862-6407A>C) c.340A>C (p.Lys114Gln) c.61-6407A>C (n.61-6407A>C) c.442-6407A>C (n.442-6407A>C) | |
2 | g.233760627A>G | CA351066458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>G (n.856-6407A>G) c.868-6407A>G (n.868-6407A>G) c.862-6407A>G (n.862-6407A>G) c.340A>G (p.Lys114Glu) c.61-6407A>G (n.61-6407A>G) c.442-6407A>G (n.442-6407A>G) | |
2 | g.233760627A>T | CA351066459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>T (n.856-6407A>T) c.868-6407A>T (n.868-6407A>T) c.862-6407A>T (n.862-6407A>T) c.340A>T (p.Lys114Ter) c.61-6407A>T (n.61-6407A>T) c.442-6407A>T (n.442-6407A>T) | |
2 | g.233760628A>C | CA351066461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>C (n.856-6406A>C) c.868-6406A>C (n.868-6406A>C) c.862-6406A>C (n.862-6406A>C) c.341A>C (p.Lys114Thr) c.61-6406A>C (n.61-6406A>C) c.442-6406A>C (n.442-6406A>C) | |
2 | g.233760628A>G | CA351066462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>G (n.856-6406A>G) c.868-6406A>G (n.868-6406A>G) c.862-6406A>G (n.862-6406A>G) c.341A>G (p.Lys114Arg) c.61-6406A>G (n.61-6406A>G) c.442-6406A>G (n.442-6406A>G) | |
2 | g.233760628A>T | CA351066463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>T (n.856-6406A>T) c.868-6406A>T (n.868-6406A>T) c.862-6406A>T (n.862-6406A>T) c.341A>T (p.Lys114Met) c.61-6406A>T (n.61-6406A>T) c.442-6406A>T (n.442-6406A>T) | COSMIC COSMIC |
2 | g.233760629G>A | CA431960339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>A (n.856-6405G>A) c.868-6405G>A (n.868-6405G>A) c.862-6405G>A (n.862-6405G>A) c.342G>A (p.Lys114=) c.61-6405G>A (n.61-6405G>A) c.442-6405G>A (n.442-6405G>A) | gnomAD v4 |
2 | g.233760629G>C | CA351066464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>C (n.856-6405G>C) c.868-6405G>C (n.868-6405G>C) c.862-6405G>C (n.862-6405G>C) c.342G>C (p.Lys114Asn) c.61-6405G>C (n.61-6405G>C) c.442-6405G>C (n.442-6405G>C) | gnomAD v4 |
2 | g.233760629G= | CA1335889269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G= (n.856-6405G=) c.868-6405G= (n.868-6405G=) c.862-6405G= (n.862-6405G=) c.342G= (p.Lys114=) c.61-6405G= (n.61-6405G=) c.442-6405G= (n.442-6405G=) | |
2 | g.233760629G>T | CA351066465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>T (n.856-6405G>T) c.868-6405G>T (n.868-6405G>T) c.862-6405G>T (n.862-6405G>T) c.342G>T (p.Lys114Asn) c.61-6405G>T (n.61-6405G>T) c.442-6405G>T (n.442-6405G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760630A= | CA1335889271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A= (n.856-6404A=) c.868-6404A= (n.868-6404A=) c.862-6404A= (n.862-6404A=) c.343A= (p.Lys115=) c.61-6404A= (n.61-6404A=) c.442-6404A= (n.442-6404A=) | |
2 | g.233760630A>C | CA351066466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A>C (n.856-6404A>C) c.868-6404A>C (n.868-6404A>C) c.862-6404A>C (n.862-6404A>C) c.343A>C (p.Lys115Gln) c.61-6404A>C (n.61-6404A>C) c.442-6404A>C (n.442-6404A>C) |