Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760597T>A | CA351066396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6437T>A (n.856-6437T>A) c.868-6437T>A (n.868-6437T>A) c.862-6437T>A (n.862-6437T>A) c.310T>A (p.Ser104Thr) c.61-6437T>A (n.61-6437T>A) c.442-6437T>A (n.442-6437T>A) | dbSNP |
2 | g.233760597T>C | CA351066395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6437T>C (n.856-6437T>C) c.868-6437T>C (n.868-6437T>C) c.862-6437T>C (n.862-6437T>C) c.310T>C (p.Ser104Pro) c.61-6437T>C (n.61-6437T>C) c.442-6437T>C (n.442-6437T>C) | |
2 | g.233760597T>G | CA2179805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6437T>G (n.856-6437T>G) c.868-6437T>G (n.868-6437T>G) c.862-6437T>G (n.862-6437T>G) c.310T>G (p.Ser104Ala) c.61-6437T>G (n.61-6437T>G) c.442-6437T>G (n.442-6437T>G) | dbSNP ExAC gnomAD v2 |
2 | g.233760597T= | CA1335889247 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6437T= (n.856-6437T=) c.868-6437T= (n.868-6437T=) c.862-6437T= (n.862-6437T=) c.310T= (p.Ser104=) c.61-6437T= (n.61-6437T=) c.442-6437T= (n.442-6437T=) | |
2 | g.233760598C>A | CA351066397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6436C>A (n.856-6436C>A) c.868-6436C>A (n.868-6436C>A) c.862-6436C>A (n.862-6436C>A) c.311C>A (p.Ser104Tyr) c.61-6436C>A (n.61-6436C>A) c.442-6436C>A (n.442-6436C>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.233760598C= | CA1335889249 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6436C= (n.856-6436C=) c.868-6436C= (n.868-6436C=) c.862-6436C= (n.862-6436C=) c.311C= (p.Ser104=) c.61-6436C= (n.61-6436C=) c.442-6436C= (n.442-6436C=) | |
2 | g.233760598C>G | CA351066398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6436C>G (n.856-6436C>G) c.868-6436C>G (n.868-6436C>G) c.862-6436C>G (n.862-6436C>G) c.311C>G (p.Ser104Cys) c.61-6436C>G (n.61-6436C>G) c.442-6436C>G (n.442-6436C>G) | dbSNP |
2 | g.233760598C>T | CA351066399 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6436C>T (n.856-6436C>T) c.868-6436C>T (n.868-6436C>T) c.862-6436C>T (n.862-6436C>T) c.311C>T (p.Ser104Phe) c.61-6436C>T (n.61-6436C>T) c.442-6436C>T (n.442-6436C>T) | |
2 | g.233760599T>A | CA431960296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6435T>A (n.856-6435T>A) c.868-6435T>A (n.868-6435T>A) c.862-6435T>A (n.862-6435T>A) c.312T>A (p.Ser104=) c.61-6435T>A (n.61-6435T>A) c.442-6435T>A (n.442-6435T>A) | |
2 | g.233760599T>C | CA431960297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6435T>C (n.856-6435T>C) c.868-6435T>C (n.868-6435T>C) c.862-6435T>C (n.862-6435T>C) c.312T>C (p.Ser104=) c.61-6435T>C (n.61-6435T>C) c.442-6435T>C (n.442-6435T>C) | |
2 | g.233760599T>G | CA431960298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6435T>G (n.856-6435T>G) c.868-6435T>G (n.868-6435T>G) c.862-6435T>G (n.862-6435T>G) c.312T>G (p.Ser104=) c.61-6435T>G (n.61-6435T>G) c.442-6435T>G (n.442-6435T>G) | |
2 | g.233760600T>A | CA351066400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6434T>A (n.856-6434T>A) c.868-6434T>A (n.868-6434T>A) c.862-6434T>A (n.862-6434T>A) c.313T>A (p.Phe105Ile) c.61-6434T>A (n.61-6434T>A) c.442-6434T>A (n.442-6434T>A) | dbSNP |
2 | g.233760600T>C | CA351066401 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6434T>C (n.856-6434T>C) c.868-6434T>C (n.868-6434T>C) c.862-6434T>C (n.862-6434T>C) c.313T>C (p.Phe105Leu) c.61-6434T>C (n.61-6434T>C) c.442-6434T>C (n.442-6434T>C) | |
2 | g.233760600T>G | CA351066402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6434T>G (n.856-6434T>G) c.868-6434T>G (n.868-6434T>G) c.862-6434T>G (n.862-6434T>G) c.313T>G (p.Phe105Val) c.61-6434T>G (n.61-6434T>G) c.442-6434T>G (n.442-6434T>G) | |
2 | g.233760601T>A | CA351066403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>A (n.856-6433T>A) c.868-6433T>A (n.868-6433T>A) c.862-6433T>A (n.862-6433T>A) c.314T>A (p.Phe105Tyr) c.61-6433T>A (n.61-6433T>A) c.442-6433T>A (n.442-6433T>A) | |
2 | g.233760601T>C | CA351066405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>C (n.856-6433T>C) c.868-6433T>C (n.868-6433T>C) c.862-6433T>C (n.862-6433T>C) c.314T>C (p.Phe105Ser) c.61-6433T>C (n.61-6433T>C) c.442-6433T>C (n.442-6433T>C) | |
2 | g.233760601T>G | CA351066404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>G (n.856-6433T>G) c.868-6433T>G (n.868-6433T>G) c.862-6433T>G (n.862-6433T>G) c.314T>G (p.Phe105Cys) c.61-6433T>G (n.61-6433T>G) c.442-6433T>G (n.442-6433T>G) | |
2 | g.233760602C>A | CA351066406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>A (n.856-6432C>A) c.868-6432C>A (n.868-6432C>A) c.862-6432C>A (n.862-6432C>A) c.315C>A (p.Phe105Leu) c.61-6432C>A (n.61-6432C>A) c.442-6432C>A (n.442-6432C>A) | dbSNP |
2 | g.233760602C>G | CA351066407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>G (n.856-6432C>G) c.868-6432C>G (n.868-6432C>G) c.862-6432C>G (n.862-6432C>G) c.315C>G (p.Phe105Leu) c.61-6432C>G (n.61-6432C>G) c.442-6432C>G (n.442-6432C>G) | dbSNP |
2 | g.233760602C>T | CA431960299 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>T (n.856-6432C>T) c.868-6432C>T (n.868-6432C>T) c.862-6432C>T (n.862-6432C>T) c.315C>T (p.Phe105=) c.61-6432C>T (n.61-6432C>T) c.442-6432C>T (n.442-6432C>T) | |
2 | g.233760603C>A | CA351066408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>A (n.856-6431C>A) c.868-6431C>A (n.868-6431C>A) c.862-6431C>A (n.862-6431C>A) c.316C>A (p.Leu106Met) c.61-6431C>A (n.61-6431C>A) c.442-6431C>A (n.442-6431C>A) | |
2 | g.233760603C>G | CA351066409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>G (n.856-6431C>G) c.868-6431C>G (n.868-6431C>G) c.862-6431C>G (n.862-6431C>G) c.316C>G (p.Leu106Val) c.61-6431C>G (n.61-6431C>G) c.442-6431C>G (n.442-6431C>G) | |
2 | g.233760603C>T | CA431960302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>T (n.856-6431C>T) c.868-6431C>T (n.868-6431C>T) c.862-6431C>T (n.862-6431C>T) c.316C>T (p.Leu106=) c.61-6431C>T (n.61-6431C>T) c.442-6431C>T (n.442-6431C>T) | gnomAD v4 |
2 | g.233760604T>A | CA351066410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>A (n.856-6430T>A) c.868-6430T>A (n.868-6430T>A) c.862-6430T>A (n.862-6430T>A) c.317T>A (p.Leu106Gln) c.61-6430T>A (n.61-6430T>A) c.442-6430T>A (n.442-6430T>A) | dbSNP |
2 | g.233760604T>C | CA351066411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>C (n.856-6430T>C) c.868-6430T>C (n.868-6430T>C) c.862-6430T>C (n.862-6430T>C) c.317T>C (p.Leu106Pro) c.61-6430T>C (n.61-6430T>C) c.442-6430T>C (n.442-6430T>C) | |
2 | g.233760604T>G | CA351066412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>G (n.856-6430T>G) c.868-6430T>G (n.868-6430T>G) c.862-6430T>G (n.862-6430T>G) c.317T>G (p.Leu106Arg) c.61-6430T>G (n.61-6430T>G) c.442-6430T>G (n.442-6430T>G) | |
2 | g.233760605G>A | CA431960304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>A (n.856-6429G>A) c.868-6429G>A (n.868-6429G>A) c.862-6429G>A (n.862-6429G>A) c.318G>A (p.Leu106=) c.61-6429G>A (n.61-6429G>A) c.442-6429G>A (n.442-6429G>A) | dbSNP |
2 | g.233760605G>C | CA431960305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>C (n.856-6429G>C) c.868-6429G>C (n.868-6429G>C) c.862-6429G>C (n.862-6429G>C) c.318G>C (p.Leu106=) c.61-6429G>C (n.61-6429G>C) c.442-6429G>C (n.442-6429G>C) | |
2 | g.233760605G>T | CA431960306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>T (n.856-6429G>T) c.868-6429G>T (n.868-6429G>T) c.862-6429G>T (n.862-6429G>T) c.318G>T (p.Leu106=) c.61-6429G>T (n.61-6429G>T) c.442-6429G>T (n.442-6429G>T) | |
2 | g.233760606C>A | CA351066413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>A (n.856-6428C>A) c.868-6428C>A (n.868-6428C>A) c.862-6428C>A (n.862-6428C>A) c.319C>A (p.Gln107Lys) c.61-6428C>A (n.61-6428C>A) c.442-6428C>A (n.442-6428C>A) | dbSNP |
2 | g.233760606C>G | CA351066414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>G (n.856-6428C>G) c.868-6428C>G (n.868-6428C>G) c.862-6428C>G (n.862-6428C>G) c.319C>G (p.Gln107Glu) c.61-6428C>G (n.61-6428C>G) c.442-6428C>G (n.442-6428C>G) | dbSNP |
2 | g.233760606C>T | CA351066415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>T (n.856-6428C>T) c.868-6428C>T (n.868-6428C>T) c.862-6428C>T (n.862-6428C>T) c.319C>T (p.Gln107Ter) c.61-6428C>T (n.61-6428C>T) c.442-6428C>T (n.442-6428C>T) | dbSNP |
2 | g.233760607A>C | CA351066416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>C (n.856-6427A>C) c.868-6427A>C (n.868-6427A>C) c.862-6427A>C (n.862-6427A>C) c.320A>C (p.Gln107Pro) c.61-6427A>C (n.61-6427A>C) c.442-6427A>C (n.442-6427A>C) | |
2 | g.233760607A>G | CA351066418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>G (n.856-6427A>G) c.868-6427A>G (n.868-6427A>G) c.862-6427A>G (n.862-6427A>G) c.320A>G (p.Gln107Arg) c.61-6427A>G (n.61-6427A>G) c.442-6427A>G (n.442-6427A>G) | |
2 | g.233760607A>T | CA351066417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>T (n.856-6427A>T) c.868-6427A>T (n.868-6427A>T) c.862-6427A>T (n.862-6427A>T) c.320A>T (p.Gln107Leu) c.61-6427A>T (n.61-6427A>T) c.442-6427A>T (n.442-6427A>T) | |
2 | g.233760608G>A | CA431960308 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>A (n.856-6426G>A) c.868-6426G>A (n.868-6426G>A) c.862-6426G>A (n.862-6426G>A) c.321G>A (p.Gln107=) c.61-6426G>A (n.61-6426G>A) c.442-6426G>A (n.442-6426G>A) | dbSNP |
2 | g.233760608G>C | CA351066419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>C (n.856-6426G>C) c.868-6426G>C (n.868-6426G>C) c.862-6426G>C (n.862-6426G>C) c.321G>C (p.Gln107His) c.61-6426G>C (n.61-6426G>C) c.442-6426G>C (n.442-6426G>C) | |
2 | g.233760608G>T | CA351066420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>T (n.856-6426G>T) c.868-6426G>T (n.868-6426G>T) c.862-6426G>T (n.862-6426G>T) c.321G>T (p.Gln107His) c.61-6426G>T (n.61-6426G>T) c.442-6426G>T (n.442-6426G>T) | |
2 | g.233760609C>A | CA351066421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>A (n.856-6425C>A) c.868-6425C>A (n.868-6425C>A) c.862-6425C>A (n.862-6425C>A) c.322C>A (p.Arg108Ser) c.61-6425C>A (n.61-6425C>A) c.442-6425C>A (n.442-6425C>A) | |
2 | g.233760609C= | CA1335889251 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C= (n.856-6425C=) c.868-6425C= (n.868-6425C=) c.862-6425C= (n.862-6425C=) c.322C= (p.Arg108=) c.61-6425C= (n.61-6425C=) c.442-6425C= (n.442-6425C=) | |
2 | g.233760609C>G | CA351066422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>G (n.856-6425C>G) c.868-6425C>G (n.868-6425C>G) c.862-6425C>G (n.862-6425C>G) c.322C>G (p.Arg108Gly) c.61-6425C>G (n.61-6425C>G) c.442-6425C>G (n.442-6425C>G) | |
2 | g.233760609C>T | CA173874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>T (n.856-6425C>T) c.868-6425C>T (n.868-6425C>T) c.862-6425C>T (n.862-6425C>T) c.322C>T (p.Arg108Cys) c.61-6425C>T (n.61-6425C>T) c.442-6425C>T (n.442-6425C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760610G>A | CA351066425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>A (n.856-6424G>A) c.868-6424G>A (n.868-6424G>A) c.862-6424G>A (n.862-6424G>A) c.323G>A (p.Arg108His) c.61-6424G>A (n.61-6424G>A) c.442-6424G>A (n.442-6424G>A) | gnomAD v4 COSMIC |
2 | g.233760610G>C | CA351066424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>C (n.856-6424G>C) c.868-6424G>C (n.868-6424G>C) c.862-6424G>C (n.862-6424G>C) c.323G>C (p.Arg108Pro) c.61-6424G>C (n.61-6424G>C) c.442-6424G>C (n.442-6424G>C) | gnomAD v4 |
2 | g.233760610G= | CA1335889254 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G= (n.856-6424G=) c.868-6424G= (n.868-6424G=) c.862-6424G= (n.862-6424G=) c.323G= (p.Arg108=) c.61-6424G= (n.61-6424G=) c.442-6424G= (n.442-6424G=) | |
2 | g.233760610G>T | CA351066423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>T (n.856-6424G>T) c.868-6424G>T (n.868-6424G>T) c.862-6424G>T (n.862-6424G>T) c.323G>T (p.Arg108Leu) c.61-6424G>T (n.61-6424G>T) c.442-6424G>T (n.442-6424G>T) | dbSNP gnomAD v4 |
2 | g.233760611T>A | CA431960313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>A (n.856-6423T>A) c.868-6423T>A (n.868-6423T>A) c.862-6423T>A (n.862-6423T>A) c.324T>A (p.Arg108=) c.61-6423T>A (n.61-6423T>A) c.442-6423T>A (n.442-6423T>A) | |
2 | g.233760611T>C | CA431960314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>C (n.856-6423T>C) c.868-6423T>C (n.868-6423T>C) c.862-6423T>C (n.862-6423T>C) c.324T>C (p.Arg108=) c.61-6423T>C (n.61-6423T>C) c.442-6423T>C (n.442-6423T>C) | |
2 | g.233760611T>G | CA431960312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>G (n.856-6423T>G) c.868-6423T>G (n.868-6423T>G) c.862-6423T>G (n.862-6423T>G) c.324T>G (p.Arg108=) c.61-6423T>G (n.61-6423T>G) c.442-6423T>G (n.442-6423T>G) | |
2 | g.233760612G>A | CA351066426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6422G>A (n.856-6422G>A) c.868-6422G>A (n.868-6422G>A) c.862-6422G>A (n.862-6422G>A) c.325G>A (p.Val109Met) c.61-6422G>A (n.61-6422G>A) c.442-6422G>A (n.442-6422G>A) | COSMIC COSMIC |