Table 4

Amino acid substitutions

Exon	cDNA nucleotide	gDNA nucleotide	Variant	cDNA alteration	Pathogenic/polymorphism probability*	Mouse AA	Rat AA	Other AA	Amino acid group substitution		Normal control frequency		Reference†
Exon	cDNA nucleotide	gDNA nucleotide	Variant	cDNA alteration	Pathogenic/polymorphism probability*	Mouse AA	Rat AA	Other AA	From	To	Normal control frequency		Reference†
Miller²²; †numbers indicate the following: ¹current study, ²Bergmann et al,²⁰³Bergmann et al,¹³⁴Furu et al,¹⁵⁵Onuchic et al,⁵⁶Rossetti et al,¹⁴⁷Ward et al*.⁶
Pathogenic variants
3	107	4371	p.T36M	c.107 C→T	Equal	T35	T	T (G gallus)	Polar	Non-polar	0/200		1, 2, 3, 4, 5, 6, 7
6	410	11258	p.P137R	c.410 C→G	Pathogenic, higher	P135	P	P (G gallus)	Non-polar	Basic	0/200	Novel	1
9	664	16563	p.I222V	c.664 A→G	Equal	I220	I		Non-polar	Non-polar	0/100		1, 6
12	783	21499	p.I261M	c.783 A→G	Equal probability	I259	I		Non-polar	Non-polar	0/200	Novel	1
12	806	21522	p.G269V	c.806 G→T	Pathogenic, higher	G267	G		Non-polar	Non-polar	0/200	Novel	1
15	1180	27591	p.A394T	c.1180 G→A	Equal	A392	A		Non-polar	Polar	0/200	Novel	1
16	1342	29079	p.G448R	c.1342 G→C	Pathogenic, higher	G446	G		Non-polar	Basic	0/200	Novel	1
16	1409	29146	p.G470D	c.1409 G→A	Equal	G468	A		Non-polar	Acidic	0/200	Novel	1
20	1880	33450	p.M627K	c.1880 T→A	Pathogenic, higher	M625	M		Non-polar	Basic	0/200	Novel	1
30	3407	59263	p.Y1136C	c.3407 A→G	Pathogenic, higher	Y1134	F		Polar	Non-polar	1/200		1, 2
32	4751	62513	p.S1584I	c.4751 G→T	Pathogenic, higher	S1580			Polar	Non-polar	0/200		1, 4
32	5236	62998	p.G1746S	c.5236 G→A	Equal	G1742	G		Non-polar	Basic	0/200	Novel	1
34	5387	69949	p.L1796S	c.5387 T→C	Pathogenic, higher	L1792	L		Non-polar	Polar	0/200	Novel	1
36	5825	127660	p.D1942G	c.5825 A→G	Pathogenic, higher	D1938	D		Acidic	Non-polar	0/200		1, 4, 6
37	5912	153294	p.G1971D	c.5912 G→A	Equal	G1967	G		Non-polar	Acidic	0/200		1, 4
54	8315	296252	p.L2772P	c.8315 T→C	Pathogenic, higher	L2766	L		Non-polar	Non-polar	0/200		1, 4
55	8518	311769	p.R2840C	c.8518 C→T	Pathogenic, higher	Y2834	R		Basic	Non-polar	0/200	Novel	1
56	8588	314857	p.Y2863C	c.8588 A→G	Pathogenic, higher	Y2857	Y		Polar	Non-polar	0/200		1, 4
58	8870	334332	p.I2957T	c.8870 T→C	Pathogenic, higher	I2951	I		Non-polar	Polar	0/200		1, 3, 4, 5, 6, 7
59	9107	339104	p.V3036G	c.9107 T→G	Pathogenic, higher	V3030	V		Non-polar	Non-polar	0/200		1, 4
59	9311	339308	p.F3104C	c.9311 T→G	Pathogenic, higher	F3098	F		Non-polar	Non-polar	0/200	Novel	1
59	9719	339716	p.R3240L	c.9719 G→T	Pathogenic, higher	R3233	R		Basic	Non-polar	0/200	Novel	1
59	9725	339722	p.G3242V	c.9725 G→T	Pathogenic, higher	G3235	G		Non-polar	Non-polar	0/200	Novel	1
60	9866	340760	p.S3289I	c.9866 G→T	Pathogenic, higher	S3282	S		Polar	Non-polar	0/200		1, 2
61	10036	343108	p.C3346R	c.10036 T→C	Equal	C3339	C		Non-polar	Basic	0/200		1, 6
65	10444	427931	p.R3482C	c.10444 C→T	Pathogenic, higher	R3475	R		Basic	Non-polar	0/100		1, 3
65	10805	428292	p.P3602L	c.10805 C→T	Pathogenic, higher	P3595			Non-polar	Non-polar	0/200	Novel	1
69	11611	454994	p.W3871R	c.11611 T→C	Pathogenic, higher	W3864		W (M fascicularis)	Non-polar	Basic	0/200	Novel	1

Pathogenic variants – splicing
14	977	24912	p.G326V	c.977 G→T	Pathogenic, higher	G324	G		Non-polar	Non-polar	0/120		1, 4
22	2279	37415	p.R760H	c.2279 G→A	Equal	C758	C		Basic	Basic	0/200		1, 5
29	3364	54542	p.G1122S	c.3364 G→A	Polymorphism, higher	G1120	G		Non-polar	Polar	0/200		1, 5
54	8425	296362	p.G2809R	c.8425 G→A	Pathogenic, higher	G2803	G		Non-polar	Basic	0/200	Novel	1
60	9998	340892	p.R3333T	c.9998 G→C	Polymorphism, higher	S3326	G		Basic	Polar	0/200	Novel	1
65	10926	428413	p.M3642I	c.10926 G→A	Equal	A3635			Non-polar	Non-polar	0/200	Novel	1

Unclassified variants
22	2269	37405	p.I757L	c.2269 A→C	Polymorphism, higher	P755	I		Non-polar	Non-polar	0/200		1, 6
30	3367	59223	p.G1123S	c.3367 G→A	Polymorphism, higher	G1121	K		Non-polar	Polar	0/200		1, 3, 4
32	4038	61801	p.V1347M	c.4038 G→A	Pathogenic, higher	M1343			Non-polar	Non-polar	1/200	Novel	1
32	4139	61901	p.V1380A	c.4139 T→C	Equal	V1376			Non-polar	Non-polar	1/200	Novel	1
32	4870	62632	p.R1624W	c.4870 C→T	Pathogenic, higher	Q1620			Basic	Non-polar	0/200		1, 5
32	5160	62922	p.D1720E	c.5160 C→A	Polymorphism, higher	D1716			Acidic	Acidic	0/200	Novel	1
34	5410	69972	p.R1804C	c.5410 C→T	Pathogenic, higher	H1800	H		Basic	Polar	0/200	Novel	1
40	6436	175760	p.T2146S	c.6436 A→T	Polymorphism, higher	T2141	T		Polar	Polar	0/200	Novel	1
43	6854	183616	p.G2285E	c.6854 G→A	Equal	G2280			Polar	Acidic	1/200	Novel	1
44	6992	184012	p.I2331K	c.6992 T→A	Pathogenic, higher	M2326			Non-polar	Basic	0/200		1, 7
53	8206	256656	p.W2736G	c.8206 T→G	Polymorphism, higher	W2730	W		Non-polar	Non-polar	0/200	Novel	1
55	8521	311772	p.M2841V	c.8521 A→G	Equal	F2835	F		Non-polar	Non-polar	0/200	Novel	1
55	8546	311797	p.G2849A	c.8546 G→C	Polymorphism, higher	G2843	G		Non-polar	Non-polar	0/200	Novel	1
56	8581	314850	p.S2861G	c.8581 A→G	Polymorphism, higher	S2855	S		Polar	Non-polar	0/200		1, 4
57	8737	332769	p.V2913M	c.8737 G→A	Equal	V2907	V		Non-polar	Non-polar	1/200	Novel	1
57	8788	332820	p.R2930W	c.8788 C→T	Pathogenic, higher	R2924	R		Basic	Non-polar	1/200	Novel	1
59	9215	339212	p.A3072V	c.9215 C→T	Equal	A3066	A		Non-polar	Non-polar	1/200		1, 2
59	9788	339785	p.V3263A	c.9788 T→C	Equal	V3256	V		Non-polar	Non-polar	0/200	Novel	1
65	10666	428153	p.R3556C	c.10666 C→T	Pathogenic, higher	H3549			Basic	Non-polar	1/200	Novel	1
65	10319	427806	p.V3440D	c.10319 T→A	Pathogenic, higher	T3433	L		Non-polar	Acidic	0/200		1, 4
70	11737	460568	p.R3913C	c.11737 C→T	Pathogenic, higher	P3906		C (M  >fascicularis)	Basic	Non-polar	0/200	Novel	1
16	1255	28992	p.V419S	c.1255_1256del GTinsTC	Not covered by Miller	V417	V		Non-polar	Polar	1/200	Novel	1
53	8246	256696	p.W2749S	c.8246_8247delGG insCC	Polymorphism, higher	W2743	W		Non-polar	Non-polar	0/200	Novel	1

Polymorphisms
19	1736	31885	p.T579M	c.1736 C→T	Equal	T577	T		Polar	Non-polar	3/200		1, 2
22	2278	37414	p.R760C	c.2278 C→T	Pathogenic, higher	C758	C		Basic	Non-polar	70/200		1, 4, 6, 7
24	2489	41465	p.N830S	c.2489 A→G	Polymorphism,   >higher	N829	N		Polar	Polar	10/128		1, 6
32	3785	61547	p.A1262V	c.3785 C→T	Equal	V1259	S		Non-polar	Non-polar	9/238		1, 6, 7
32	5125	62887	p.L1709F	c.5125 C→T	Equal	L1705	L		Non-polar	Non-polar	2/200		1, 4, 6
35	5608	77120	p.V1870L	c.5608 G→T	Equal	V1870	E		Non-polar	Non-polar	9/200		1, 4, 6
35	5725	77237	p.R1909W	c.5725 C→T	Pathogenic, higher	Q1905			Basic	Non-polar	5/200	Novel	1
49	7675	219692	p.V2559L	c.7675 G→C	Equal	T2553	I		Non-polar	Basic	1/200	Novel	1
51	7921	239652	p.T2641A	c.7921 A→G	Equal	T2635	T		Polar	Non-polar	2/200		1, 4
54	8308	296245	p.T2770A	c.8308 A→G	Equal	T2764	T		Polar	Non-polar	2/200	Novel	1
54	8345	296282	p.G2782A	c.8345 G→C	Polymorphism, higher	C2776	C		Non-polar	Non-polar	2/200	Novel	1
56	8606	314875	p.T2869K	c.8606 C→A	Polymorphism, higher	V2863	V		Polar	Basic	1/200		1, 4, 6
59	9415	339412	p.D3139Y	c.9415 G→T	Pathogenic, higher	N3132	N		Acidic	Polar	1/200		1, 4, 5, 6
59	9577	339574	p.V3193I	c.9577 G→A	Polymorphism, higher	V3186	G		Non-polar	Non-polar	3/200	Novel	1
65	10515	428002	p.S3505R	c.10515 C→A	Pathogenic, higher	S3498	R		Non-polar	Basic	5/128		1, 6, 7
69	11525	454908	p.R3842L	c.11525 G→T	Pathogenic, higher	R3835	E	R (M fascicularis)	Basic	Non-polar	3/200		1, 2
70	11696	460527	p.Q3899R	c.11696 A→G	Pathogenic, higher	Q3892		Q (M fascicularis)	Polar	Basic	87/200		1, 4, 6, 7
70	11714	460545	p.I3905N	c.11714 T→A	Pathogenic, higher	K3898		N (M fascicularis)	Non-polar	Polar	11/200		1, 4, 6
71	12143	468450	p.Q4048R	c.12143 A→G	Pathogenic, higher	S4036		Q (M fascicularis)	Polar	Basic	42/128		1, 4, 7