Gene | Position (hg18) | Nucleotide Alterationa | Predicted Effect on Protein | dbSNP/1000 Genomes | Sanger Sequencing | Het./ Homo.b | Interpretation |
---|---|---|---|---|---|---|---|
ANOP1 | Â | Â | Â | Â | Â | Â | Â |
FOXE3 | chr1:47655084 | c.510C > T | p.Ala170Ala | rs34082359 | Yes; verified | Het. | SNP |
FOXE3 | chr1:47655175 | c.601 G > A | p.Val201Met | - | Yes; verified10 | Het. | SNP |
FOXE3 | chr1:47655192 | c.618C > G | p.Ala206Ala | - | Yes; verified10 | Homo. | SNP |
SIX3 | chr2:45022837 | c.90 G > T | p.Ala30Ala | rs78018362 | Not done | Het. | SNP |
SIX3 | chr2:45025346 | c.942A > G | p.Ala314Ala | rs62840660 | Not done | Het. | SNP |
SOX2 | chr3:182913381 | c.539A > D c | Predicted FS d | - | Yes; c.542delC verified | Het. | Mutation |
GDF6 | chr8:97242073 | c.24C > G | p.Leu8Leu | - | Yes, verified | Het. | Unknown |
PAX2 | chr10:102558862 | c.867C > T | p.Asn289Asn | rs1800897 | Not done | Het. | SNP |
PAX2 | chr10:102558973 | c.978A > C | p.Pro326Pro | rs1800898 | Not done | Het. | SNP |
BMP4 | chr14:53487272 | c.455T > C | p.Val152Ala | rs17563 | Not done | Het. | SNP |
OTX2 | chr14:56338763 | c.313C > T | p.Glu105X | - | Yes; verified 8 | Het. | Mutation |
VSX2 | chr14:73781636 | c.471C > T | p.Ser157Ser | rs35435463 | Not done | Het. | SNP |
CRYBA4 | chr22:25351457 | c.171C > T | p.Phe57Phe | rs5761637 | Not done | Het. | SNP |
ANOP2 | Â | Â | Â | Â | Â | Â | Â |
FOXE3 | chr1:47655084 | c.510C > T | p.Ala170Ala | rs34082359 | Yes; verified | Het. | SNP |
FOXE3 | chr1:47655294 | c.720C > A | p.Cys240X | - | YES; verified 10 | Homo. | Mutation |
SIX3 | chr2:45023323 | c.576C > T | p.Arg192Arg | rs182881 | Not done | Het. | SNP |
PAX2 | chr10:102558862 | c.867C > T | p.Asn289Asn | rs1800897 | Not done | Het. | SNP |
PAX2 | chr10:102558973 | c.978A > C | p.Pro326Pro | rs1800898 | Not done | Het. | SNP |
PAX6 | chr11:31768060 | c.1268A > T | p.X423Leu extX*15 | - | YES; not verified 24 | Het. | Mutation |
BMP4 | chr14:53487272 | c.455T > C | p.Val152Ala | rs17563 | Not done | Het. | SNP |
VSX2 | chr14:73781636 | c.471C > T | p.Ser157Ser | rs35435463 | Not done | Het. | SNP |
VSX2 | chr14:73797160 | c.871 G > A | p.Asp291Asn | rs75395981 | YES; verified | Het. | SNP |
CRYBA4 | chr22:25349282 | c.124 G > A | p.Glu42Lys | - | YES; verified | Het. | Unknown |
CRYBA4 | chr22:25351457 | c.171T > C | p.Phe57Phe | rs5761637 | Not done | Het. | SNP |