Table 1.

Mutations identified that altered amino acid sequences

SymbolReferenceAlleleCoding/amino acid changeGroupMutation typeConserved region in human genome†Predicted functional effect‡
Csmd1 C T NM_053171:c.5755G>A,p.Ala1919Thr Young Missense No N/A 
Lmln C T NM_172823:c.1597C>T,p.Gln533* Young Nonsense Yes Damaging 
Mrgpra6 G A NM_001308537:c.799C>T,p.Arg267Trp Young Missense No N/A 
Sidt2 G C NM_172257:c.[1062C>G],p.[Tyr354*] Young Nonsense Yes Stop gain 
Slc5a9 C T NM_145551:c.298G>A,p.Gly100Ser Young Missense Yes Damaging 
Ahnak C T NM_009643:c.[3092C>T],p.Pro1031Leu Old Missense Yes Damaging 
Bcl11b§ G§ A§ NM_021399:c.610C>T,p.Gln204*§ Old Nonsense§ Yes Damaging 
Carm1 A G NM_021531:c.[1441A>G],p.[Thr481Ala] Old Missense Yes Benign 
Cdr1 G A NM_001166658:c.892C>T,p.Arg298Trp Old Missense No N/A 
Hist1h2ac§ G§ A§ NM_178189:c.97C>T,p.Arg33Trp§ Old Missense§ Yes Damaging 
Grin3a A — NM_001033351:c.[1797delT],p.[Ile599fs] Old Deletion Yes Frameshift 
Itpkb A G NM_001081175:c.2521A>G,p.Lys841Glu Old Missense Yes Benign 
Notch3§ C§ T§ NM_008716:c.668G>A,p.Cys223Tyr§ Old Missense§ Yes Damaging 
Npy2r§ G§ A§ NM_008731:c.244C>T,p.Arg82Cys§ Old Missense§ Yes Damaging 
Olfr1111 G T NM_146593:c.20C>A,p.Thr7Asn Old Missense Yes Probably damaging 
Pde6a G A NM_146086:c.161G>A,p.Ser54Asn Old Missense Yes Benign 
Prb1 G T NM_053251:c.702C>A,p.Asp234Glu Old Missense No N/A 
Ptprr§ C§ T§ NM_011217:c.1135C>T,p.Arg379Trp§ Old Missense§ Yes Damaging 
Rapgef1 G A NM_001039086:c.2164G>A,p.Glu722Lys Old Missense No N/A 
Rnf6 C T NM_028774:c.1003G>A,p.Val335Ile Old Missense No N/A 
Scn2a A C NM_001099298:c.5480A>C,p.Asp1827Ala Old Missense Yes Benign 
Tada1 T G NM_030245:c.803T>G,p.Leu268Arg Old Missense Yes Benign 
Tjp1 A G NM_009386:c.4991T>C,p.Ile1664Thr Old Missense Yes Benign 
Top2b§ G§ —§ NM_009409:c.1487delG,p.Gly497fs§ Old Deletion§ Yes Frameshift 
Vmn2r49 G A NM_001105156:c.647C>T,p.Pro216Leu Old Missense No N/A 
Zcwpw1 G A NM_001005426:c.34G>A,p.Glu12Lys Old Missense No N/A 
Zfp735 G T NM_001126489:c.510G>T,p.Lys170Asn Old Missense No N/A 
SymbolReferenceAlleleCoding/amino acid changeGroupMutation typeConserved region in human genome†Predicted functional effect‡
Csmd1 C T NM_053171:c.5755G>A,p.Ala1919Thr Young Missense No N/A 
Lmln C T NM_172823:c.1597C>T,p.Gln533* Young Nonsense Yes Damaging 
Mrgpra6 G A NM_001308537:c.799C>T,p.Arg267Trp Young Missense No N/A 
Sidt2 G C NM_172257:c.[1062C>G],p.[Tyr354*] Young Nonsense Yes Stop gain 
Slc5a9 C T NM_145551:c.298G>A,p.Gly100Ser Young Missense Yes Damaging 
Ahnak C T NM_009643:c.[3092C>T],p.Pro1031Leu Old Missense Yes Damaging 
Bcl11b§ G§ A§ NM_021399:c.610C>T,p.Gln204*§ Old Nonsense§ Yes Damaging 
Carm1 A G NM_021531:c.[1441A>G],p.[Thr481Ala] Old Missense Yes Benign 
Cdr1 G A NM_001166658:c.892C>T,p.Arg298Trp Old Missense No N/A 
Hist1h2ac§ G§ A§ NM_178189:c.97C>T,p.Arg33Trp§ Old Missense§ Yes Damaging 
Grin3a A — NM_001033351:c.[1797delT],p.[Ile599fs] Old Deletion Yes Frameshift 
Itpkb A G NM_001081175:c.2521A>G,p.Lys841Glu Old Missense Yes Benign 
Notch3§ C§ T§ NM_008716:c.668G>A,p.Cys223Tyr§ Old Missense§ Yes Damaging 
Npy2r§ G§ A§ NM_008731:c.244C>T,p.Arg82Cys§ Old Missense§ Yes Damaging 
Olfr1111 G T NM_146593:c.20C>A,p.Thr7Asn Old Missense Yes Probably damaging 
Pde6a G A NM_146086:c.161G>A,p.Ser54Asn Old Missense Yes Benign 
Prb1 G T NM_053251:c.702C>A,p.Asp234Glu Old Missense No N/A 
Ptprr§ C§ T§ NM_011217:c.1135C>T,p.Arg379Trp§ Old Missense§ Yes Damaging 
Rapgef1 G A NM_001039086:c.2164G>A,p.Glu722Lys Old Missense No N/A 
Rnf6 C T NM_028774:c.1003G>A,p.Val335Ile Old Missense No N/A 
Scn2a A C NM_001099298:c.5480A>C,p.Asp1827Ala Old Missense Yes Benign 
Tada1 T G NM_030245:c.803T>G,p.Leu268Arg Old Missense Yes Benign 
Tjp1 A G NM_009386:c.4991T>C,p.Ile1664Thr Old Missense Yes Benign 
Top2b§ G§ —§ NM_009409:c.1487delG,p.Gly497fs§ Old Deletion§ Yes Frameshift 
Vmn2r49 G A NM_001105156:c.647C>T,p.Pro216Leu Old Missense No N/A 
Zcwpw1 G A NM_001005426:c.34G>A,p.Glu12Lys Old Missense No N/A 
Zfp735 G T NM_001126489:c.510G>T,p.Lys170Asn Old Missense No N/A 

Gene identifier, nucleotide change, amino acid change, age group, type of mutation, conservation in human sequence, and predicted functional consequences in the protein function are indicated.

—, base pair deletion; N/A, not applicable.

†

Homologous region was identified in human protein.

‡

Predicted based on Polyphen-2 tool.

§

Mutated genes with predicted damaging consequences.

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