S3 Table

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TGM6 g.210_211del,. (homozygous) c.4640del. (homozygous) p.Asn288Thr p.Gly113Cys. (homozygous) p.Leu517Trp p.Arg681His. (homozygous) g.3366A>G.
S3 Table

F13a g.210_211del, (homozygous)

TGM1 c.4640del p.Asn288Thr (homozygous)

TGM5 p.Gly113Cys (homozygous)

TGM6 p.Leu517Trp

p.Arg681His (homozygous) p.Arg171Ter p.Tyr441Ter

g.3366A>G (homozygous) p.Ser42Tyr p.Arg142Cys

p.Asp327Gly

p.Gly217Ser g.1303_1307del

p.Lys445Asn (homozygous) p.Trp255Arg p.Leu41Pro

p.Asn60Lys

p.Arg323Gln

p.Gln582Ter

c.640del

c.1722_1724del

g.86C>T

c.1811_1815delinsT CCTTCA

p.Gly501Arg p.Gly562Arg (homozygous) p.Val414Phe (homozygous) p.Arg260His (homozygous) p.Val34Leu (homozygous) p.Arg326Gln p.Val316Phe

p.Arg141His (homozygous) p.Arg142His (homozygous) p.Val378Leu p.Arg395Leu p.Val382Met (homozygous) p.Arg388His g.9008del

p.Arg306Trp

p.Asp101Val p.Leu204Gln p.Tyr276Asn (homozygous) p.Arg126Cys p.Arg315Cys p.Arg315His (homozygous)

p.Tyr283Cys

p.Asp490Gly

c.1286_1287insC (homozygous) g.[5G>A;15C>T] p.Arg703Trp

p.Gly278Arg

p.Arg315Leu (homozygous) p.Val359Met

p.Gly392Asp p.Arg142Pro

p.Arg396His g.1922_1928del

p.Arg661Ter

p.Arg286Gln

g.1331_1332insA

p.Met242Thr

p.Val518Met

c.602_605del

p.Ser160Cys

p.Arg670Ter (homozygous) g.1223_1227del

n.1+12C>A

p.Gly94Asp

p.Asp510His p.Arg111Cys