List of variants studied for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2

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Total variants: 14

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HGVS	dbSNP
NM_013382.5(POMT2):c.1006+1G>A	rs533916138
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe)	rs267606965
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831
NM_013382.5(POMT2):c.1261del (p.Arg421fs)	rs587777815
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)	rs267606968
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)	rs119463989
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)	rs200198778
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)	rs267606969
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu)	rs398124264
NM_013382.5(POMT2):c.334-3C>A	rs1566658848
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn)	rs267606972
NM_013382.7(POMT2):c.1271A>G (p.His424Arg)	rs1359158673
POMT2, IVS12AS, G-A, -14

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