Disease | Report No. | cDNA Variant | cDNA Variant Types | Protein Variant Types of K16 | Domain |
FNEPPKa | 1 | c.25delA | Deletion | p.Thr9ProfsX6 | Head |
PC-1 | 1 | c.43A > T | Substitution | p.Lys15X | Head |
EPPKb | 1 | c.309_320del | Deletion | p.Gly104_Ala107del | Head |
PC-1 | 1 | c.362T > C | Substitution | p.Met121Thr | 1A |
PC-1 | 1 | c.362T > A | Substitution | p.Met121Lys | 1A |
PC-1 | 1 | c.365A > C | Substitution | p.Gln122Pro | 1A |
PC-1 | 1 | c.371T > G | Substitution | p.Leu124Arg | 1A |
PC-1 | 2 | c.371T > C | Substitution | p.Leu124Pro | 1A |
PC-1 | 2 | c.371T > A | Substitution | p.Leu124His | 1A |
PC-1 | 1 | c.371_373delc | Deletion | p.Leu124_Asn125del | 1A |
PC-1 | 1 | c.373A > G | Substitution | p.Asn125Asp | 1A |
PC-1 | 1 | c.373_374del | Indel | p.Asn125Gly | 1A |
PC-1/FNEPPK | 12 | c.374A > G | Substitution | p.Asn125Ser | 1A |
PC-1/FNEPPK | 7 | c.379C > T | Substitution | p.Arg127Cys | 1A |
PC-1 | 4 | c.380G > C | Substitution | p.Arg127Pro | 1A |
PC-1 | 2 | c.383T > A | Substitution | p.Leu128Gln | 1A |
PC-1 | 4 | c.389_391del | Deletion | p.Ser130del | 1A |
PC-1 | 12 | c.395T > C | Substitution | p.Leu132Pro | 1A |
PC-1 | 1 | c.1062A > T | Substitution | p.Lys354Asn | 2B |
FNEPPK | 1 | c.1244-1266del | Deletion | p.Ala415_Glu422del | 2B |