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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
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