Table 2 Numbers and types of genetic variations within three high LOD regions on chromosomes 3, 7, and 17.

From: Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease

Chromosome [position]

Size (Mb)

No. variations

No. exonic variations

No. exonic variations in affected (dominant model)

Synonymous

Non synonymous

In/Del

Stop gain/loss

3 [30, 303, 774–45, 507, 305]

15.2

881

170

7

13

0

0

7 [111, 578, 521–117, 907, 989]

6.3

166

21

0

0

0

0

17 [71, 726, 922–77, 477, 826]

5.8

885

183

11

6

0

0

Total

27.3

1,932

374

18

19

0

0

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