| Link to variant | Link to patients | Location | DNA nomenclature | RNA nomenclature | Protein nomenclature | Predicted severity | Phenotype with null allele | CRIM status | Number of patients | |
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| Variant info | Patients:1 | GAA and part of CCDC40 | Ch37/hg19:g.78,056,048_ 78,094,854delins14bp | r.(-212_*551del) | p.(0) | Very severe | Classic infantile | Negative | 1 | |
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| Variant info | Patients:1 | CCDC40 and GAA exon 1 | Ch37/hg19 chr17:78,059,821_ 78,076,592del | r.0 | p.? | very severe | Classic infantile | Unknown | 1 | |
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| Variant info | Patients:0 | exon 1A, 5' UTR | c.-338C>G | r.(-338c>g) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | exon 1A, 5' UTR | c.-260G>C | r.(-260g>c) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | exon 1A, 5' UTR | c.-178G>A | r.(-178g>a) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:3 | intron 1A | c.-113+2T>C | r.spl | p.? | Very severe | Unknown (disease-associated) | Unknown | 3 | |
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| Variant info | Patients:0 | exon 1B, 5' UTR | c.-82G>C | r.(-82g>c) | p.? | Unknown | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | exon 1B, 5' UTR | c.-75C>G | r.(-75c>g) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+219G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+316C>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+317C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+671A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+757G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+903A>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+1104A>G | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+1172G>A | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+1190G>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-33+1309T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-32-1298G>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-32-1124C>T | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | intron 1B | c.-32-884T>C | r.(=) | p.? | Non-pathogenic | Unknown | Positive | 0 | |
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| Variant info | Patients:0 | |||||||||