Table 1.

Pathogenic and likely pathogenic variants.

Sl. No.	rs ID	Protein Consequence	Transcript Consequence
1	rs17580	p.Glu288Val	c.863A>T
2		p.Glu366Lys	c.1096G>A
3	rs28931570	p.Arg63Cys	c.187C>T
4	rs1425620023	p.Thr346SerfsTer7	c.1036_1037insGT
5	rs1175196821	p.Glu347GlyfsTer12	c.1040_1041del
6	rs112661131		c.646+2T>C
7	rs775982338	p.Phe76del	c.227_229del
8	rs750779440		c.917+1G>A
9		p.Asn402IlefsTer12	c.1205del
10		p.Glu400AspfsTer44	c.1199_1200insC
11	rs746155701	p.Thr320Ala	c.958A>G
12	rs11558261	p.Gly139Ser	c.415G>A
13	rs1240316149	p.Ala379ProfsTer19	c.1135del
14		p.Asn289LysfsTer2	c.866dup
15	rs756773408	p.Gly216Cys	c.646G>T
16		p.Glu175LysfsTer35	c.522del
17			c.-23-1G>C
18			c.-23-2A>G
19	rs764325655	p.Glu387ArgfsTer14	c.1158dup
20	rs921982028	p.Thr204SerfsTer11	c.611_612del
21	rs751235320		c.646+1G>T
22	rs267606950	p.Tyr184Ter	c.552del
23	rs776846218	p.Glu387ArgfsTer11	c.1158del
24	rs751343534	p.Ala371TrpfsTer28	c.1111_1115del
25	rs754737768	p.Ala371AsnfsTer31	c.1110_1111insAACA
26			c.1065+2T>G
27	rs199422211	p.Lys241Ter	c.721A>T
28		p.Gly216AlafsTer22	c.647del
29		p.Tyr184Ter	c.552C>G
30		p.Pro393Leu	c.1178C>T
31	rs28931569	p.Leu65Pro	c.194T>C
32	rs1445192595	p.Trp218Ter	c.654G>A