SLC22A5 Database

• Reference sequences were NC_000005.8 and NM_003060.2. cDNA number 1 is the "A" of the start codon.
• Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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• "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
• Transport Activity - Assayed in patient cultured fibroblasts (% of normal).
• Expression - Assayed in chinese hamster ovary cells (CHO) expressing mutant OCTN2 (% of wild type).

331 variants found

Genomic Position	Location	Mutation Type	Nucleotide Change	Protein Change	Transport Activity	Expression	Classification	References	Comments
		Missense		p.G152D			VUS	Calderon et.al unpublished
	Exon 3	Missense	c.631T>C	p.Y211H			VUS	Calderon et.al unpublished
131733357	5'UTR		c.-207G>C				Benign	Peltekova (2004)
131733379	5'UTR		c.-185A>C		33		Uncertain	Calderon et.al unpublished
131733415	5'UTR		c.-149G>A		33		Uncertain	Calderon et.al unpublished
131733473	5'UTR	Deletion	c.-91_22del				Pathogenic	Nezu (1999)
131733486	5'UTR		c.-78C>T		33		Benign	Koizumi (1999)
131733487	5'UTR		c.-77G>A		33		Benign	Koizumi (1999)
131733526	5'UTR		c.-38A>C				Benign	Calderon et.al unpublished
131733566	Exon 1	Missense	c.3G>T	p.M1I	<5		Likely Pathogenic	Dobrowolski (2005)
131733567	Exon 1	Insertion	c.4_5insC	p.R2PfsX136			Pathogenic	Nezu (1999)
131733575	Exon 1	Nonsense	c.12C>G	p.Y4X	<1		Pathogenic	Wang (2001)
131733596	Exon 1-8	Deletion	c.33_1427del	p.G12_L477del	2		Pathogenic	Lamhonwah (1998)
131733597	Exon 1	Missense	c.34G>A	p.G12S	36			Calderon et.al unpublished
131733597	Exon 1	Missense	c.34G>A	p.G12S			VUS	Calderon et.al unpublished
131733597	Exon 1	Missense	c.34G>A	p.G12S			VUS	Calderon et.al unpublished
131733597	Exon 1	Missense	c.34G>A	p.G12S			VUS	Li (2010)
131733597	Exon 1	Missense	c.34G>A	p.G12S			VUS	Calderon et.al unpublished
131733597	Exon 1	Missense	c.34G>A	p.G12S			VUS	Calderon et.al unpublished
131733606	Exon 1	Missense	c.43G>T	p.G15W				Calderon et.al unpublished
131733606	Exon 1	Missense	c.43G>T	p.G15W	3		Pathogenic	Calderon et.al unpublished
131733606	Exon 1	Missense	c.43G>T	p.G15W			Pathogenic	El-Hattab (2010)
131733606	Exon 1	Missense	c.43G>T	p.G15W			Pathogenic	Calderon et.al unpublished
131733606	Exon 1	Missense	c.43G>T	p.G15W			Pathogenic	Calderon et.al unpublished
131733606	Exon 1	Deletion	c.43delG	p.G15Gfs*28			Pathogenic	Carducci (unpublished)
131733614	Exon 1	Missense	c.51C>G	p.F17L	14	18	Pathogenic	Calderon et.al unpublished
131733614	Exon 1	Missense	c.51C>G	p.F17L			Pathogenic	Calderon et.al unpublished
131733619	Exon 1	Missense	c.56G>C	p.R19P	<5	4	Pathogenic	Wang (2001)
131733619	Exon 1	Missense	c.56G>C	p.R19P			Pathogenic	Calderon et.al unpublished
131733619	Exon 1	Missense	c.56G>C	p.R19P			Pathogenic	Calderon et.al unpublished
131733622	Exon 1	Missense	c.59T>A	p.L20H			VUS	Calderon et.al unpublished
131733627	Exon 1	Deletion	c.67_69delTTC	p.F23del	2		Pathogenic	Lamhonwah (2002)
131733630	Exon 1	Deletion	c.67_69delTTC	p.L23del				Calderon et.al unpublished
131733632	Exon 1	Silent	c.69C>T	p.F23F			Benign	Toh DS et.al 2010
131733646	Exon 1	Missense	c.83G>T	p.S28I	<12		Likely Pathogenic	Rahbeeni (2002)
131733658	Exon 1	Missense	c.95A>G	p.N32S			Pathogenic	Calderon et.al unpublished
131733658	Exon 1	Missense	c.95A>G	p.N32S	21	0.4	Pathogenic	Lamhonwah (2002)
131733658	Exon 1	Missense	c.95A>G	p.N32S			Pathogenic	Calderon et.al unpublished
131733658	Exon 1	Missense	c.95A>G	p.N32S			Pathogenic	Calderon et.al unpublished
131733658	Exon 1	Missense	c.34G>A	p.G12S			VUS	Calderon et.al unpublished
131733694	Exon 1	Missense	c.131C>T	p.A44V				Calderon et.al unpublished
131733694	Exon 1	Missense	c.131C>T	p.A44V			VUS	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>T	p.P46S				Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>T	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>T	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>T	p.P46S	<5	<5	Pathogenic	Schimmenti (2007)
131733699	Exon 1	Missense	c.136C>G	p.P46S	6		Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733699	Exon 1	Missense	c.136C>G	p.P46S			Pathogenic	Calderon et.al unpublished
131733700	Exon 1	Missense	c.137C>T	p.P46L	7		Likely Pathogenic	Calderon et.al unpublished
131733711	Exon 1	Deletion	c.148delT	p.C50AfsX9			Pathogenic	Carducci (unpublished)
131733759	Exon 1	Missense	c.196A>C	p.T66P			VUS	Li (2010)
131733759	Exon 1	Missense	c.196A>C	p.T66P			VUS	Calderon et.al unpublished
131733770	Exon 1	Silent	c.207G>C	p.L69L			Benign	Gazouli (2005)
131733787	Exon 1	Missense	c.224G>C	p.R75P			VUS	Li (2010)
131733795	Exon 1	Deletion	c.232delC	p.H79TfsX51	<1		Pathogenic	Amat di San Filippo (2006)
131733809	Exon 1	Silent	c.246C>T	p.R82R			Benign	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L				Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L				Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L				Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L				Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L	0	<1	Pathogenic	Makhseed (2004)
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733811	Exon 1	Missense	c.248G>T	p.R83L			Pathogenic	Calderon et.al unpublished
131733817	Exon 1	Insertion	c.254_264dupGGCTCGCCACC	p.I89GfsX45	<5		Pathogenic	Wang (2001)
131733817	Exon 1	Insertion	c.254_264dupGGCTCGCCACC	p.I89GfsX45			Pathogenic	Calderon et.al unpublished
131733817	Exon 1	Insertion	c.254_264dupGGCTCGCCACC	p.I89GfsX45			Pathogenic	Li (2010)
131733817	Exon 1	Insertion	c.265_266insGGCTCGCCACC	p.I89GfsX45			Pathogenic	Calderon et.al unpublished
131733835	Exon 1	Missense	c.272A>G	p.N91S				Calderon et.al unpublished
131733835	Exon 1	Missense	c.272A>G	p.N91S			Uncertain	Calderon et.al unpublished
131733841	Exon 1	Missense	c.278C>G	p.S93W			Pathogenic	Calderon et.al unpublished
131733846	Exon 1	Missense	c.283C>G	p. L95V	<2		Pathogenic	Calderon et.al unpublished
131733848	Exon 1	Silent	c.285C>T	p.L95L			Benign	Tang (2002)
131733850	Exon 1	Missense	c.287G>C	p.G96A			VUS	Calderon et.al unpublished
131733850	Exon 1	Missense	c.287G>C	p.G96A			VUS	Li (2010)
131733854	Exon 1	Silent	c.291C>T	p.L97L			Benign	Tang (1999)
131733888	Exon 1	Missense	c.325G>C	p.E109Q			VUS	Toh DS et.al 2010
131733901	Exon 1	Missense	c.338G>A	p.C113Y			VUS	Han L et.al 2014
131733907	Exon 1	Missense	c.344A>G	p.D115G	<2		Pathogenic	Calderon et.al unpublished
131733913	Exon 1	Nonsense	c.350G>A	p.W117X			Pathogenic	Li (2010)
131733927	Exon 1	Missense	c.364G>T	p.D122Y				Calderon et.al unpublished
131733927	Exon 1	Missense	c.364G>T	p.D122Y	53		VUS	Calderon et.al unpublished
131733927	Exon 1	Missense	c.364G>T	p.D122Y			VUS	Calderon et.al unpublished
131733927	Exon 1	Missense	c.364G>T	p.D122Y			VUS	Li (2010)
131733931	Exon 1	Missense	c.368T>G	p.V123G			VUS	Li (2010)
131733931	Exon 1	Missense	c.368T>G	p.V123G			VUS	Li (2010)
131733956	Exon 1	Missense	c.393G>C	p.E131D	17		VUS	Calderon et.al unpublished
131733973	Intron 1		c.393+17G>A				Benign	Calderon et.al unpublished
131733973	Intron 1		c.393+17G>A		50		Benign	Calderon et.al unpublished
131741953	IVS 1		c.394-16T>A				Benign	Carducci (unpublished)
131741971	Exon 2	Nonsense	c.396G>A	p.W132X	<5		Pathogenic	Tang (1999)
131741989	Exon 2	Silent	c.414C>T	p.D138D	45		Benign	Calderon et.al unpublished
131741990	Exon 2	Missense	c.415G>A	p.D139N			VUS	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S	5	45	Pathogenic	Amat di San Filippo (2006)
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S	<21		Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131741999	Exon 2	Missense	c.424G>T	p.A142S			Pathogenic	Calderon et.al unpublished
131742000	Exon 2	Missense	c.425C>T	p.A142V				Calderon et.al unpublished
131742003	Exon 2	Missense	c.428C>T	p.P143L			Likely Pathogenic	Lee NC et al. 2010
131742005	Exon 2	Missense	c.430C>T	p.L144F				Calderon et.al unpublished
131742005	Exon 2	Missense	c.430C>T	p.L144F			Benign	Calderon et.al unpublished
131742005	Exon 2	Missense	c.430C>T	p.L144F			Benign	Calderon et.al unpublished
131742005	Exon 2	Missense	c.430C>T	p.L144F			Benign	Calderon et.al unpublished
131742008	Exon 2	Insertion	c.433dupA	p.T145NfsX50			Pathogenic	Han L et.al 2014
131742015	Exon 2	Insertion	c.440_442dup	p.Ser147dup			Unknown	Carducci (unpublished)
131742026	Exon 2	Missense	c.451G>A	p.V151M	6		Likely Pathogenic	Calderon et.al unpublished
131742028	Exon 2	Silent	c.453G>A	p.V151V			Benign	Calderon et.al unpublished
131742028	Exon 2	Silent	c.453G>A	p.V151V	6		Benign	Calderon et.al unpublished
131742028	Exon 2	Silent	c.453G>A	p.V151V			Benign	Lemes et. Al unpublished
131742028	Exon 2	Silent	c.453G>A	p.V151V			Benign	Calderon et.al unpublished
131742033	Exon 2	Deletion	c.458_459delTG	p.V153AfsX41	<5		Pathogenic	Dobrowolski (2005)
131742033	Exon 2	Deletion	c.458_459delTG	p.V153AfsX41			Pathogenic	Calderon et.al unpublished
131742073	Intron 2	Splice Site	c.497+1G>T				Likely Pathogenic	Han L et.al 2014
131742076	IVS 2	Splice Site?	c.497+4A>C				Suspected Benign	Calderon et.al unpublished
131742077	Intron 2	Splice Site?	c.393+5G>A				Pathogenic	Han L et.al 2014
131747244	Exon 3-8	Large Deletion					Pathogenic	Calderon et.al unpublished
131747745	Exon 3	Missense	c.505C>T	p.R169W	<5	<1	Pathogenic	Wang (2000)
131747746	Exon 3	Missense	c.506G>A	p.R169Q	<5		Likely Pathogenic	Burwinkel (1999)
131747761	Exon 3	Deletion	c.517delC	p.L173CfsX			Pathogenic	Han L et.al 2014
131747767	Exon 3	Missense	c.523G>A	p.V175M			Likely Benign	Toh DS et al. 2011
131747773	Exon 3	Missense	c.529A>G	p.M177V			Uncertain	Calderon et.al unpublished
131747773	Exon 3	Missense	c.529A>G	p.M177V			VUS	Li (2010)
131747773	Exon 3	Missense	c.529A>G	p.M177V			VUS	Calderon et.al unpublished
131747775	Exon 3	Missense	c.535A>T	p.M179L		92	Benign	Koizumi (1999)
131747797	Exon 3	Missense	c.553G>T	p.L191N			VUS	Toh DS et.al 2010
131747797	Exon 3	Missense	c.557T>C	p.L186P			VUS	Calderon et.al unpublished
131747800	Exon 3	Silent	c.556C>T	p.L186L			Benign	Toh DS et.al 2010
131747801	Exon 3	Missense	c.557T>C	p.L186P			VUS	Li (2010)
131747817	Exon 3	Frame-shift nonsense	c.573delG	p.N192IfsX12			pathogenic	Li (2010)
131747849	Exon 3	Missense	c.605T>C	p.L202P				Calderon et.al unpublished
131747849	Exon 3	Missense	c.605T>C	p.L202P			Uncertain	Calderon et.al unpublished
131747849	Exon 3	Missense	c.605T>C	p.L202P			VUS	Calderon et.al unpublished
131747869	Exon 3	Missense	c.629A>G	p.N210S			Pathogenic	Calderon et.al unpublished
131747869	Exon 3	Missense	c.629A>G	p.N210S	24		Pathogenic	Calderon et.al unpublished
131747872	Exon 3	Missense	c.632A>G	p.Y211C	<10		Likely Pathogenic	Vaz (1999)
131747872	Exon 3	Missense	c.632A>G	p.Y211C			Likely Pathogenic	Calderon et.al unpublished
131747881	Exon 3	Missense	c.641C>T	p.A214V			Likely Benign	Toh DS et al. 2010
131747881	Exon 3	Missense	c.641C>T	p.A214V			Likely Benign	Calderon et.al unpublished
131747881	Exon 3	Missense	c.641C>T	p.A214V			Likely Benign	Calderon et.al unpublished
131747885	Exon 3	Missense	c.641 C>T	p.A214V				Calderon et.al unpublished
131747885	Exon 3	Missense	c.641C>T	p.A214V			Suspected Pathogenic	Calderon et.al unpublished
131747890	Exon 3	Missense	c.646G>C	p.V216L			Uncertain	Calderon et.al unpublished
131747890	Exon 3	Missense	c.646G>C	p.V216L			Uncertain	Calderon et.al unpublished
131747892	Exon 3	Insertion	c.652_653ins TATGGCCATCAGGTTGGAG	p.G218VfsX68	2		Pathogenic	Lamhonwah & Tein (1998)
131747893	Intron 3	Splice Site	c.652+1G>A		2		Pathogenic	Lamhonwah (2002)
131747897	Intron 3		c.652+6A>G				Polymorphism	Calderon et.al unpublished
131747969	Intron 3		c.652+77A>G				Uncertain	Calderon et.al unpublished
131748917	Intron 3	Splice Site	c.653-2A>C		8		Pathogenic	Calderon et.al unpublished
131748919	Exon 4	Deletion	c.653_824del	p.T219SfsX20	2		Pathogenic	Lamhonwah & Tein (1998)
131748944	Exon 4	Missense	c.674C>T	p.S225L			Uncertain	Calderon et.al unpublished
131748944	Exon 4	Missense	c.674C>T	p.S225L			VUS	Calderon et.al unpublished
131748949	Exon 4	Missense	c.679C>T	p.R227C				Calderon et.al unpublished
131748949	Exon 4	Missense	c.679G>A	p.R227C			Uncertain	Calderon et.al unpublished
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Li (2010)
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Li (2010)
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Li (2010)
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Calderon et.al unpublished
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Calderon et.al unpublished
131748950	Exon 4	Missense	c.680G>A	p.R227H			Pathogenic	Calderon et.al unpublished
131748958	Exon 4	Missense	c.688T>C	p.F230L			VUS	Li (2010)
131748962	Exon 4	Missense	c.692C>T	p.S231F			VUS	Calderon et.al unpublished
131748962	Exon 4	Missense	c.692C>T	p.S231F			VUS	Calderon et.al unpublished
131748965	Exon 4	Missense	c.695c>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M	5	2	Pathogenic	Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748965	Exon 4	Missense	c.695C>T	p.T232M				Calderon et.al unpublished
131748970	Exon 4	Missense	c.700G>C	p.G234R			Pathogenic	Han L et.al 2014
131748988	Exon 4	Missense	c.718G>A	p.A240T			VUS	Li (2010)
131748991	Exon 4	Missense	c.725G>T	p.G242V	<5	<1	Pathogenic	Wang (2000)
131749015	Exon 4	Deletion	c.745_748delTTTG	p.F249LfsX14			Pathogenic	Han L et.al 2014
131749026	Exon 4	Nonsense	c.760C>T	p.R254X	<1		Pathogenic	Tang (2002)
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS	Calderon et.al unpublished
131749027	Exon 4	Missense	c.761G>A	p.R254Q			VUS
131749034	Exon 4	Nonsense	c.768G>A	p.W256X	0		Pathogenic	Amat di San Filippo (2006)
131749035	Exon 4	Missense	c.769C>T	p.R257W	<50	0	Pathogenic	Li (2011)
131749039	Exon 4	Missense	c.769C>T	p.R257W				Calderon et.al unpublished
131749039	Exon 4	Missense	c.769C>T	p.R257W			Pathogenic	Li (2010)
131749040	Exon 4	Missense	c.769C>T	p.R257W	9		Pathogenic	Calderon et.al unpublished
131749040	Exon 4	Missense	c.769C>T	p.R257W			Pathogenic	Calderon et.al unpublished
131749061	Exon 4	Missense	c.791C>G	p.T264R			VUS	Li (2010)
131749067	Exon 4	Missense	c.797C>T	p.P266L			VUS	Han L et.al 2014
131749072	Exon 4	Deletion	c.806delT	p.L269HfsX27	2		Pathogenic	Cederbaum (2002)
131749073	Exon 4	Silent	c.807G>A	p.L269L			Benign	Tang (2002)
131749078	Exon 4	Missense	c.808T>C	p.C270R				Calderon et.al unpublished
131749104	Intron 4		c.824+13C>T				Polymorphism	Tang (2002)
131749132	Intron 4		c.824+38G>T				Suspected Benign	Calderon et.al unpublished
131750616	Exon 5	Nonsense	c.825G>A	p.W275X	5		Pathogenic	Dobrowolski (2005)
131750629	Exon 5	Missense	c.839C>T	p.S280F	<1	<1	Pathogenic	Amat di San Filippo (2006)
131750629	Exon 5	Missense	c.839C>T	p.S280F			Pathogenic
131750629	Exon 5	Deletion	c.839delC	p.R282NfsX14	1		Pathogenic	Lamhonwah (2002)
131750631	Exon 5	Missense	c.841C>T	p.P281S			Uncertain	Calderon et.al unpublished
131750634	Exon 5	Missense	c.839C>T	p.S280F				Calderon et.al unpublished
131750634	Exon 5	Missense	c.839C>T	p.S280F				Calderon et.al unpublished
131750635	Exon 5	Nonsense	c.844C>T	p.R282X	<1		Pathogenic	Wang (1999)
131750635	Exon 5	Nonsense	c.844C>T	p.R282X			Pathogenic	Calderon et.al unpublished
131750636	Exon 5	Missense	c.845G>A	p.R282Q	<10	11	Pathogenic	Amat di San Filippo (2006)
131750638	Exon 5	Missense	c.847T>C	p.W283R		<1	Pathogenic	Mayatepek (2000)
131750638	Exon 5	Missense	c.847T>A	p.W283R	<10	<5	Pathogenic	Amat di San Filippo (2006)
131750640	Exon 5	Missense	c.849G>T	p.W283C		2	Pathogenic	Koizumi (1999)
131750646	Exon 5	Missense	c.856T>C	p.S286P			VUS	Calderon et.al unpublished
131750655	Exon 5	Nonsense	c.865C>T	p.R289X	<5		Pathogenic
131750656	Exon 5	Nonsense	c.865C>T	p.R289X	<5		Pathogenic	Dobrowolski (2005)
131750693	Exon 5	Missense	c.902C>A	p.A301D	<5	4	Pathogenic	Wang (2000)
131750694	Exon 5	Missense	c.904A>G	p.K302E			VUS	Toh DS et.al 2010
131750694	Exon 5	Missense	c.904A>G	p.K302E			VUS	Calderon et.al unpublished
131750724	Exon 5	Missense	c.934A>G	p.I312V			Benign	Li (2010)
131750724	Exon 5	Missense	c.934A>G	p.I312V			VUS	Li (2010)
131752514	Exon 6	Nonsense	c.955C>T	p.Q319X			pathogenic	Li (2010)
131752568	Exon 6	Deletion	c.1009delA	p.T337RfsX12	16-20		Pathogenic	Lamhonwah (2002)
131752602	Exon 6	Missense	c.1043T>C	p.I348T			Pathogenic	Calderon et.al unpublished
131752611	Exon 6	Missense	c.1051T>C	p.W351R	<5	<1	Pathogenic	Wang (2000)
131754255	Intron 6		c.952-25T>C				Benign	Calderon et.al unpublished
131754277	Intron 6	Splice Site	c.1053-3C>T				Likely Pathogenic	Calderon et.al unpublished
131754278	Intron 6	Splice-Site	c.1053-3C>T				Uncertain	Calderon et.al unpublished
131754278	Intron 6	Splice Site	c.1053-2A>C				Pathogenic	Calderon et.al unpublished
131754278	Intron 6	Splice Site	c.1053-2A>C				Pathogenic	Calderon et.al unpublished
131754291	Exon 7	Missense	c.1064C>T	p.S355L			VUS	Li (2010)
131754299	Exon 7	Missense	c.1072T>A	p.Y358N			VUS	Li (2010)
131754299	Exon 7	Missense	c.1072T>A	p.Y358N			VUS	Calderon et.al unpublished
131754299	Exon 7	Missense	c.1072T>A	p.Y358N			VUS	Calderon et.al unpublished
131754305	Exon 7	Duplication	c.1078_1083dupGGGCTT	p.G360_L361dup			Pathogenic	Calderon et.al unpublished
131754315	Exon 7	Missense	c.1088T>C	p.L363P			VUS	Akpinar (2010)
131754357	Exon 7	Silent	c.1125C>T	p.N375N			Benign	Toh DS et.al 2010
131754389	Exon 7	Nonsense	c.1161T>G	p.Y387X			Pathogenic	Tang (2002)
131754409	Exon 7	Deletion	c.1181_1183delTGC	p.L394del	7		Pathogenic	Calderon et.al unpublished
131754413	Exon 7	Deletion	c.1181_1183del TGC	p.L394del				Calderon et.al unpublished
131754413	Exon 7	Deletion	c.1181_1183del TGC	p.L394del				Calderon et.al unpublished
131754413	Exon 7	Deletion	c.1181_1183del TGC	p.L394del				Calderon et.al unpublished
131754413	Exon 7	Deletion	c.1181_1183del TGC	p.L394del			Suspected Pathogenic	Calderon et.al unpublished
131754421	Exon 7	Missense	c.1193C>T	p.P398L	<1	<1	Pathogenic	Amat di San Filippo (2006)
131754421	Exon 8	Missense	c.1193C>T	p.P398L			Pathogenic	Calderon et.al unpublished
131754421	Exon 8	Missense	c.1193C>T	p.P398L			Pathogenic	Calderon et.al unpublished
131754421	Exon 8	Missense	c.1193C>T	p.P398L			Pathogenic	Calderon et.al unpublished
131754421	Exon 8	Missense	c.1193C>T	p.P398L			Pathogenic	Calderon et.al unpublished
131754422	Exon 7	Missense	c.1195C>T	p.R399W			Pathogenic	El-Hattab (2010)
131754423	Exon 7	Missense	c.1195C>T	p.R399W	36	7	Pathogenic	Calderon et.al unpublished
131754423	Exon 7	Missense	c.1195C>T	p.R399W			Pathogenic	Calderon et.al unpublished
131754424	Exon 7	Missense	c.1196G>A	p.R399Q	<1	<5	Pathogenic	Wang (2001)
131754427	Exon 7	Missense	c.1195C>T	p.R399W				Calderon et.al unpublished
131754427	Exon 7	Missense	c.1195C>T	p.R399W	36		Pathogenic	Calderon et.al unpublished
131754427	Exon 7	Missense	c.1195C>T	p.R399W				Calderon et.al unpublished
131754430	Exon 7	Insertion	c.1202_1203insA	p.Y401X	<5		Pathogenic	Wang (1999)
131754430	Exon 7	Insertion	c.1202dupA	p.Y401X	18		Pathogenic	Calderon et.al unpublished
131754477	Exon 7	Insertion	c.1250het_dupT	p.M417IfsX106			Pathogenic	Calderon et.al unpublished
131754497	Intron 7	Deletion	c.1267+3_+24del22				pathogenic	Li (2010)
131754498	Intron 7	Deletion	c.1267del+3_+23		5		Pathogenic	Dobrowolski (2005)
131755990	Intron 7		c.1268-34A>G				Benign	Calderon et.al unpublished
131755990	Intron 7		c.1268-34A>G				Benign	Calderon et.al unpublished
131756058	Exon 8	Deletion	c.1302delG	p.G434AfsX24	<5		Pathogenic	Wang (1999)
131756059	Exon 8	Deletion	c.1304_1313del10	p.G435EfsX20			pathogenic	Li (2010)
131756075	Exon 8	Missense	c.1319C>T	p.T440M	<1	<1	Pathogenic	Lamhonwah (2002)
131756082	Exon 8	Missense	c.1327T>G	p.F443V			VUS	Li (2010)
131756092	Exon 8	Missense	c.1336G>T	p.V446F		<1	Pathogenic	Mayatepek (2000)
131756096	Exon 8	Missense	c.1340A>G	p.Y447C	<15	0	Pathogenic	Rahbeeni (2002)
131756098	Exon 8	Missense	c.1342G>T	p.V448L	<1		VUS	Calderon et.al unpublished
131756100	Exon 8	Missense	c.1345T>G	p.Y449D	50	11	Pathogenic	Amat di San Filippo (2004)
131756101	Exon 8	Missense	c.1345T>G	p.Y449D	50	12	Pathogenic	Amat di San Filippo (2004)
131756105	Exon 8	Missense	c.1345T>G	p.Y449D				Calderon et.al unpublished
131756110	Exon 8	Missense	c.1354G>A	p.E452K	<5	<5	Pathogenic	Wang (2000)
131756119	Exon 8	Missense	c.1364C>G	p.P455R			VUS	Calderon et.al unpublished
131756119	Exon 8	Missense	c.1364C>G	p.P455R			VUS	Li (2010)
131756119	Exon 8	Missense	c.1364C>G	p.P455R			VUS	Calderon et.al unpublished
131756124	Exon 8	Missense	c.1364C>G	p.P455R				Calderon et.al unpublished
131756132	Exon 8	Deletion	c.1372delG	p.V458X			Pathogenic	Han L et.al 2014
131756148	Exon 8	Indel	c.1392_1409delinsCA	p.V465TfsX29	<1		Pathogenic	Calderon et.al unpublished
131756151	Exon 8	Missense	c.1391G>A	p.G464E			Uncertain	Calderon et.al unpublished
131756156	Exon 8	Missense	c.1400C>G	p.S467C	<8	11 (HEK293)	Pathogenic	Koizumi (1999)
131756159	Exon 8	Missense	c.1403C>G	p.T468R	<6	<1	Pathogenic	Lamhonwah (2002)
131756159	Exon 8	Missense	c.1403C>G	p.T468I			Likely Pathogenic	Calderon et.al unpublished
131756164	Exon 8	Missense	c.1409C>T	p.S470F	7.1		Likely Pathogenic	Lamhonwah (2002)
131756166	Exon 8	Missense	c.1411C>T	p.R471C			VUS	Carducci (unpublished)
131756168	Exon 8	Missense	c.1412G>A	p.R471H	<10	<2	Pathogenic	Spiekerkoetter (2003)
131756189	Exon 8	Missense	c.1433C>T	p.P478L	5	<1	Pathogenic	Tang (1999)
131757257	Exon 8	Missense	c.1441G>T	p.V481F		>60	Slight reduction in transport activity	Urban (2006)
131757257	Exon 8	Missense	c.1441G>A	p.V481I			Suspected Benign	Calderon et.al unpublished
131757267	Intron 8	Splice Site	c.1451-1G>A		<10		Pathogenic	Nezu (1999)
131757278	Exon 9	Missense	c.1462C>T	p.R488C	<4		Pathogenic	Schimmenti (2007)
131757279	Exon 9	Missense	c.1463G>A	p.R488H	5	47	Pathogenic	Amat di San Filippo (2006)
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic	Calderon et.al unpublished
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic	Calderon et.al unpublished
131757279	Exon 9	Missense	c.1463G>A	p.R488H	<21		Pathogenic	Calderon et.al unpublished
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic	Calderon et.al unpublished
131757279	Exon 9	Missense	c.1463G>A	p.R488H			Pathogenic	Calderon et.al unpublished
131757309	Exon 9	Missense	c.1493T>A	p.L498Q			VUS	Carducci (unpublished)
131757336	Exon 9	Missense	c.1520T>C	p.L507S			VUS	Li (2010)
131757336	Exon 9	Missense	c.1520T>C	p.L507S			VUS	Li (2010)
131757372	Exon 9	Deletion	c.1556dupACAC	p.I521HX3	<5		Pathogenic	Schimmenti (2007)
131757395	Exon 9	Missense	c.1579G>C	p.V527L			VUS	Calderon et.al unpublished
131757737	Intron 9	Splice Site	c.1586+1G>T				Pathogenic	Calderon et.al unpublished
131757785	Exon 10	Frameshift	c.1596_1597delCA	p.H532QfsX21			Pathogenic	Calderon et.al unpublished
131757834	Exon 10	Missense	c.1645C>T	p.P549S			Benign	Dobrowolski (2005)
131757834	Exon 10	Missense	c.1645C>T	p.P549S			Benign	Calderon et.al unpublished
131757834	Exon 10	Missense	c.1645C>T	p.P549S			VUS	Li (2010)
131757969	Intron 9		c.1587-38A>C				Benign	Calderon et.al unpublished
131758141	3'UTR		c.1674+47C>T				VUS	Calderon et.al unpublished