Table 4

Summary of known ALK-1 mutations

	Location	Type	Nucleotide change	Consequence	References
Mutations as described in original article* are in parentheses.
D, deletion; Ex, exon; I, insertion; InDel, insertion/deletion; Int, intron; M, missense; N, nonsense; Sp, Splice site.
1	Ex 2	D	c.37delC	p.L13fs	46, 61
2	Int 2	Sp	c.61+10G→A	unknown	30
3	Ex 3	D	c.83delG	p.R28fs	27
4	Ex 3	D	c.86delG	p.G29fs	60, 62
5	Ex 3	I	c.139_140insG	p.G48fs	63
6	Ex 3	M	c.142G→A	p.G48R	30
7	Ex 3	M	c.143G→A	p.G48E	39
8	Ex 3	M	c.143G→A, 145delG, 146_147insT	p.G48E,A49P	64
9	Ex 3	I	c.144_145insG	p.A49fs	63, 65
10	Ex 3	D	c.145delG	p.A49fs	65
11	Ex 3	M	c.150G→T	p.W50C	55, 62–64
12	Ex 3	N	c.150G→A	p.W50X	27
13	Ex 3	M	c.152G→A	p.C51Y	63, 65
14	Ex 3	N	c.172G→T	p.E58X	65
15	Ex 3	D	c.190delC	p.Q64fs	27
16	Ex 3	M	c.199C→T	p.R67W	31, 65
17	Ex 3	M	c.200G→A	p.R67Q	55
18	Ex 3	D	c.203delG	p.G68fs	27
19	Ex 3	M	c.231C→G	p.C77W	63
20	Ex 3	I	c.237_238insG	p.R80fs	60
21	Ex 3	I	c.243_244dupC	p.T82fs	30
22	Ex 3	M	c.286A→G	p.N96D	63
23	Ex 3	D	c.289_294delCACAAC	p.H97_N98del	65
24	Ex 3	D	c.301_307delCTGGTGC	p.L101fs	30
25	Ex 4	N	c.352C→T	p.Q118X	27
26	Ex 4	I	c.372_373insCC	p.P125fs	27
27	Ex 4	M	c.383C→A	p.A128D	31
28	Ex 4	D	c.400delG	p.A134fs	63
29	Ex 4	D	c.406_409delGGTG	p.G136fs	63
30	Ex 4	N	c.423G→A	p.W141X	55, 60
31	Ex 4	N	c.430C→T	p.R144X	30, 37, 60
32	Ex 4	N	c.439C→T	p.Q147X	27
33	Ex 4	N	c.475G→T	p.E159X	55
34	Ex 4	D	c.510delC	p.G170fs	30
35	Ex 5	M	c.536A→C	p.D179A	46
36	Ex 5	I	c.625_626insTG	Splice defect, p.G209fs	27
37	Int5	Sp	c.626–6del14bp	Unknown	27
38	Ex 6	M	c.632G→A	p.G211D	16, 46
39	Ex 6	M	c.643G→A	p.E215K	30
40	Ex 6	D	c.664_668delCACGG	p.H222X	30
41	Ex 6	M	c.667G→C	p.G223R	30
42	Ex 6	D	c.682delG	p.V228fs	30
43	Ex 6	M	c.686A→G	p.K229R	30
44	Ex 6	D	c.694_696delCTC	p.S232del	30, 54, 55, 64
45	Ex 6	D	c.704delA	p.D235fs	30
46	Ex 6	D	c.759_761delCGA	p.D254del	61
47	Int 6	Sp	c.773–2A→G	splice defect	30
48	Ex 7	D	c.810_822delCACGCAGCTGTGG	p.S271fs	65
49	Ex 7	M	c.818T→C	p.L273P	31
50	Ex 7	M	c.827T→C	p.I276T	31
51	Ex 7	I	c.838_846dupCACGAGCAC (c.1120_1129dupCACGAGCAC)*	p.H280_H282dupHEH (Y379_380dupHEH)*	39*
52	Ex 7	M	c.851C→T	p.S284F	31
53	Ex 7	M	c.853C→T	p.L285F	30
54	Ex 7	N	c.858C→A	p.Y286X	27, 65
55	Ex 7	I	c.864_865insT	p.L289fs	55
56	Ex 7	M	c.913T→C	p.S305P	31
57	Ex 7	M	c.916G→C	p.A306P	30
58	Ex 7	N	c.924C→A	p.C308X	55
59	Ex 7	M	c.925G→A	p.G309S	27
60	Ex 7	M	c.940C→T	p.H314Y	30
61	Ex 7	N	c.961C→T	p.Q321X	27
62	Ex 7	D	c.972delA	p.P324fs	30
63	Ex 7	M	c.986G→A	p.R329H	60
64	Ex 7	M	c.988G→T	p.D330Y	27, 65
65	Ex 7	M	c.988G→A	p.D330N	27
66	Ex 7	M	c.998G→T	p.S333I	55, 62, 64
67	Ex 7	InDel	c.1000_1005delCGCAATinsG	p.R334fs	16
68	Ex 7	M	c.1010T→C	p.L337P	30
69	Ex 7	M	c.1023C→G	p.N341K	16
70	Ex 7	M	c.1031G→A	p.C344Y	46, 64
71	Ex 7	M	c.1031G→T	p.C344F	64, 65
72	Ex 7	M	c.1039G→C	p.A347P	30
73	Ex 7	D	c.1042delG	p.D348fs	27
74	Ex 7	Sp (M)	c.1048G→C	Splice defect, p.G350fs (p.G350R)	27
75	Ex 8	M	c.1054G→C	p.A352P	65
76	Ex 8	D	c.1061_1068del8bp	p.M354fs	27
77	Ex 8	I	c.1062_1080dupGCACTCACAGGGCAGCGAT	p.Y361fs	65
78	Ex 8	N	c.1069C→T	p.Q357X	31
79	Ex 8	D	c.1071delG	p.Q357fs	27
80	Ex 8	D	c.1107_1108delAG	p.R369fs	27
81	Ex 8	I	c.1112_1113insG	p.G371fs	30, 62, 64
82	Ex 8	M	c.1120C→T (c.1402C→T)*	p.R374W	27, 31, 39*, 43
				(p.R354W)*	46, 55, 60, 66, 67
83	Ex 8	D	c.1120_1137del18bp	p.R374_E379del	27
84	Ex 8	M	c.1121G→A	p.R374Q	27, 30, 56, 62
85	Ex 8	M	c.1123T→C	p.Y375H	60, 62
86	Ex 8	I	c.1125_1126insGTAC	p.M376fs	30
87	Ex 8	M	c.1126A→G	p.M376V	30
88	Ex 8	M	c.1127T→G	p.M376R	54, 55
89	Ex 8	M	c.1133C→T	p.P378L	65
90	Ex 8	M	c.1133C→A	p.P378H	31
91	Ex 8	M	c.1135G→A	p.E379K (p.N379L)*	30, 39*
92	Ex 8	M	c.1139T→G	p.V380G	27
93	Ex 8	M	c.1157G→A	p.R386H	31
94	Ex 8	N	c.1171G→T	p.E391X	60
95	Ex 8	M	c.1189G→A	p.D397N	27
96	Ex 8	M	c.1190A→G	p.D397G	30
97	Ex 8	M	c.1193T→A (c.1475T→A)*	p.I398N	39*, 67
98	Ex 8	M	c.1196G→C	p.W399S	46
99	Ex 8	M	c.1199C→A	p.A400D	65
100	Ex 8	M	c.1204G→A	p.G402S	16
101	Ex 8	M	c.1218G→C	p.W406C	27
102	Ex 8	M	c.1221G→T	p.E407D	62, 64
103	Ex 8	M	c.1231C→T	p.R411W	27, 30, 31, 60–62, 68
104	Ex 8	M	c.1232G→A	p.R411Q (p.R411N)*	30, 39*, 46, 54, 55, 60, 62, 69
105	Ex 8	M	c.1232G→C	p.R411P	30
106	Ex 9	M	c.1270C→A	p.P424T	55
107	Ex 9	M	c.1270C→T	p.P424S	31
108	Ex 9	M	c.1271C→T	p.P424L	27
109	Ex 9	M	c.1275C→G	p.F425L	30
110	Ex 9	M	c.1297C→T	p.P433S	27
111	Ex 9	D	c.1299delC	p.P433fs	55, 62
112	Ex 9	M	c.1313T→C	p.M438T	27
113	Ex 9	M	c.1321G→A	p.V441M	31
114	Ex 9	M	c.1355C→T	p.P452L	31
115	Ex 10	N	c.1385C→G	p.S462X	66
116	Ex 10	N	c.1408G→T	p.E470X	27
117	Ex 10	I	c.1428_1429dupC	p.S477fs	30
118	Ex 10	N	c.1435C→T	p.R479X	27, 30, 31, 66
119	Ex 10	M	c.1436G→T	p.R479L	30
120	Ex 10	M	c.1450C→T	p.R484W	27, 30, 61
121	Ex 10	I	c.1450C→T, 1450_1451insG	p.R484Wfs	66
122	Ex 10	M	c.1460A→C	p.K487T	46
123	Ex 10	N	c.1468C→T	p.Q490X	61

Non-disease associated variants
	Ex 10	M	c.1445C→T	p.A482V	27, 30, 70