Table 2.

The summary of previously reported TPM1 gene mutations.

Author, year	Neucleotide change	Coding effect	Position	Mutation type	References
Walsh, et al, 2017	c.2delT	M1RfsX11	Exon 1	Frameshift	[14]
Lakdawala, et al, 2012	c.23 T > G	M8R	Exon 1	Missense	[15]
Hershberger, et al, 2010	c.45 G > T	K15N	Exon 1	Missense	[16]
Hershberger, et al, 2010	c.67 G > C	E23Q	Exon 1	Missense	[16]
Walsh, et al, 2017	c.91G > A	A31T	Exon 1	Missense	[14]
Walsh, et al, 2017	c.97G > A	E33K	Exon 1	Missense	[14]
Hershberger, et al, 2010	c.107G > T	S36I	Exon 1	Missense	[16]
Walsh, et al, 2017	c.118G > T	Glu40X	Exon 2	Nonsense	[14]
Olson, et al, 2001	c.119G > A	E40K	exon 2	Missense	[17]
Olson, et al, 2001	c.161G > A	E54K	Exon 2	Missense	[17]
Pugh, et al, 2014	c.163G > A	D55N	Exon 2	Missense	[18]
van de Meerakker, et al, 2013	c.250G > A	D84N	Exon 3	Missense	[19]
Hershberger, et al, 2010	c.275T > C	I92T	Exon 3	Missense	[16]
Colpan, et al, 2017	c.333 G > T	Q111H	Exon 3	Missense	[20]
Pugh, et al, 2014	c.337C > G	L113V	Exon 3	Missense	[18]
Pugh, et al, 2014	c.341A > G	E114G	Exon 3	Missense	[18]
Walsh, et al, 2017	c.359C > T	A120V	Exon 3	Missense	[14]
Walsh, et al, 2017	c.368G > C	S123T	Exon 3	Missense	[14]
Pugh, et al, 2014	c.416A > T	E139V	Exon 4	Missense	[18]
Pugh, et al, 2014	c.423G > C	M141I	Exon 4	Missense	[18]
Van Spaendonck-Zwarts, et al, 2013	c.602C > T	T201M	Exon 6	Missense	[21]
Franaszczyk, et al, 2020	c.614A > G	K205R	Exon 6	Missense	[22]
Lakdawala, et al, 2012	c.632C > G	A211G	Exon 6	Missense	[15]
Lakdawala, et al, 2010	c.688G > A	D230N	Exon 7	Missense	[23]
Walsh, et al, 2017	c.695T > G	L232R	Exon 7	Missense	[14]
Hershberger, et al, 2010	c.715G > A	A239T	Exon 8	Missense	[16]
Pugh, et al, 2014	c.725C > T	A242V	Exon 8	Missense	[18]
Walsh, et al, 2017	c.734C > T	S245L	Exon 8	Missense	[14]
Hershberger, et al, 2010	c.830C > T	A277V	Exon 9	Missense	[16]
Wilson, et al, 2015	845C > G	T282S	Exon 9	Missense	[24]