Table 3 Linked variants
Mutant Allele#Nonsyn Genome# Linked ChrLocation; bp ChangeGeneAA ChangeLOD Score
 dmh142933:23104458 G/A Xcol1a1aG1144E5.41
 dmh132623:23104092 G/Acol1a1aG1093R3.61
 dmh293031712:3070126 C/Tcol1a1bG1123D7.22
 dmh1517/121/219:41411721 G/Acol1a2G882D12
 dmh272738:21181959 G/Tcol2a1aG1174X3.91
 dmh282268:21181691 G/A Xcol2a1aaG1141D4.8
 dmh21b6688:21303580 G/A Xitpr3G2135D8.4
 dmh30b1058:21303580 G/Aitpr3G2135D1.5
 dmh1617412:13080359 T/G XcmnM10R5.11
 dmh31955:31610564 G/A Xmyhz2M543I5.97
 dmh410324:39229412 T/A XCU929145.1I156L3.61
 dmh35411220:40820378 C/T Xcx43G138D3.01
 dmh20381220:28348113 C/A Xdll4H190N8.4
 dmh3228320:28350489 T/A Xdll4C263X7.22
 dmh3316520:28352804 C/A Xdll4Y449X6.02
 dmh34321720:28350403 A/T Xdll4R235X1.5
Dermal skeleton
 dmh3c9:56069237 G/TedarD409Y14.8
 dmh192318:17607022 A/G XprkczS113P5.7
 dmh82331:46725420 G/T Xcx41.8N63K4.82
 dmh73551:46725024 T/A Xcx41.8R195S4.52
 dmh925615:40379722 G/Akcnj13T128M3.01
 dmh1d102615:40373740 A/Tkcnj13Y325XN/D
  • 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.