Table 3.
ID | Type | Mutant Allele Type | DNA Variant and Predicted Protein Description | Sex | Age (yr) at First Stone | Stones per Year Since First Stone | eGFR (ml/min per 1.73 m2) |
---|---|---|---|---|---|---|---|
14 | AA | Com het | c.[1400T>C]; [exons 5–9 dup] | M | 2 | 0.32 | 88.5 |
p.[Met467Thr]; [exons 5–9 dup] | |||||||
16 | AA | Com het | c.[1400T>C]; [exons 5–9 dup] | W | 48 | 0.67 | >90 |
p.[Met467Thr]; [exons 5–9 dup] | |||||||
19 | AA | Hom | c.[1400T>C]; [1400T>C] | W | 16 | 0.13 | 62.2 |
p.[Met467Thr]; [Met467Thr] | |||||||
55 F4 | A | Het | c.[exons 5–9dup]; [=] | W | 13 | 0.11 | 65.1 |
30 | BB | Com het | c.[368C>T] ; [671C>T] | M | 42 | 0.88 | >90 |
p.[Thr123Met]; [Ala224Val] | |||||||
32 | BB | Com het | c.[414_415delGC]; [exon 12 del] | M | 17 | 2.62 | 80.9 |
p.[Pro139Leufs*69]; [exon 12 del] | |||||||
37 | BB | Hom | c.[614dupA]; [614dupA] | W | 16 | 0.44 | 49.8 |
p.[Asn206Glufs*3]; [Asn206Glufs*3] | |||||||
38 | BB | Hom | c.[614dupA]; [614dupA] | M | 41 | 0.09 | 18 |
p.[Asn206Glufs*3]; [Asn206Glufs*3] | |||||||
41 F3 | BB | Com het | c.[614dupA]; [exon 12 del] | W | 10 | 1.6 | 27 |
p.[Asn206Glufs*3]; [exon 12 del] | |||||||
43 | BB | Com het | c.[671C>T]; [997C>T] | W | 4 | 4.47 | 50 |
p.[Ala224Val]; [Arg333Trp] | |||||||
46 | BB | Com het | c.[1399+4_1399+7del]; [exon 12del] | M | 17 | 2 | >90 |
50 | BBB | Com het + Hom | c.[544G>A;1060G>A]; [544G>A] | W | 47 | 0.73 | 83.4 |
p.[Ala182Thr;Ala354Thr]; [Ala182Thr] | |||||||
66 | B | Het | c.[671C>T]; [=] | M | 40 | 0.09 | 39.2 |
p.[Ala224Val]; [=] | |||||||
69 | B | Het | c.[671C>T]; [=] | M | 5 | 0.06 | 52.6 |
p.[Ala224Val]; [=] | |||||||
72 | B | Het | c.[exon 12 del]; [=] | M | 24 | ? | ESRD (transplant) |
ID, identification; F4, family 4; F3, family 3; Com het, compound heterozygote (two different mutations detected—one in each allele); Hom, homozygous (both alleles in the same mutation); Het, heterozygote (single mutated allele detected); M, man; W, woman.