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. 2017 Aug 22;207(2):609–623. doi: 10.1534/genetics.117.300187

Table 3. Linked variants.

Mutant Allele #Nonsyn Genome # Linked Chr Location; bp Change Gene AA Change LOD Score
Stature
 dmh14 29 3 3:23104458 G/A X col1a1a G1144E 5.41
 dmh13 26 2 3:23104092 G/A col1a1a G1093R 3.61
 dmh29 303 17 12:3070126 C/T col1a1b G1123D 7.22
 dmh15 17/12 1/2 19:41411721 G/A col1a2 G882D 12
 dmh27 27 3 8:21181959 G/T col2a1a G1174X 3.91
 dmh28 22 6 8:21181691 G/A X col2a1aa G1141D 4.8
 dmh21b 66 8 8:21303580 G/A X itpr3 G2135D 8.4
 dmh30b 10 5 8:21303580 G/A itpr3 G2135D 1.5
 dmh16 17 4 12:13080359 T/G X cmn M10R 5.11
 dmh31 9 5 5:31610564 G/A X myhz2 M543I 5.97
 dmh4 10 3 24:39229412 T/A X CU929145.1 I156L 3.61
Fin
 dmh35 41 12 20:40820378 C/T X cx43 G138D 3.01
 dmh20 38 12 20:28348113 C/A X dll4 H190N 8.4
 dmh32 28 3 20:28350489 T/A X dll4 C263X 7.22
 dmh33 16 5 20:28352804 C/A X dll4 Y449X 6.02
 dmh34 32 17 20:28350403 A/T X dll4 R235X 1.5
Dermal skeleton
 dmh3c 9:56069237 G/T edar D409Y 14.8
 dmh19 23 1 8:17607022 A/G X prkcz S113P 5.7
 dmh18 49 N/A
 dmh22 66 N/A
Pigment
 dmh8 23 3 1:46725420 G/T X cx41.8 N63K 4.82
 dmh7 35 5 1:46725024 T/A X cx41.8 R195S 4.52
 dmh9 25 6 15:40379722 G/A kcnj13 T128M 3.01
 dmh1d 102 6 15:40373740 A/T kcnj13 Y325X N/D
 dmh11 12 N/A
a

Mutation in col2a1a was filtered out as a candidate due to a low Phred-scaled quality score of 5.46 of the alternative allele.

b

Mutants are most likely clonal; N/A, for these mutants, no linkage was found at time of publication; N/D, not determined; X, linkage to predicted chromosomes was confirmed.

c

Identified by candidate gene approach.

d

Identified by whole exome sequencing of a homozygous mutant pool.