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. 2020 Mar 13;29(12):2004–2021. doi: 10.1093/hmg/ddaa045

Table 1.

Genotypes

Gene Allele Exon Type Target (5′ → 3′) Genotype DNA change aa preserved/ total aa DNA change description
tmc1 cwr4 7 Small deletion TGGGCTGGTCATGGTTCCAG tmc1cwr4 8-bp deleted 385/990 −8 bp at c.1155–1162 (−CATGGTTC)
cwr5 5 Small deletion Left: TTGTGGAGAAATATGAAG; Right: CAAAGGCAGGAAACTTTA tmc1cwr5 1-bp deleted 308/990 −1 bp at c.926 (−T)
tmc2a cwr3 9 Small deletion AGGTCCCAATGCCCACCATG tmc2acwr3 1-bp deleted/1-bp deleted 349/916 −1 bp at c.1050 (−C); −1 bp at c.1052 (−T)
cwr6 Indel tmc2acwr6 2-bp inserted/3-bp deleted 350/916 −3/+2 bp at c.1053–1055 (−GGT/+TG)
tmc2b cwr1 3 Small deletion Left: TAGCAACACTTAGGAACA; Right: GGAGACTCAAGTGCTTGA tmc2bcwr1 7-bp deleted 145/892 −7 bp at c.438–444 (−GCGCATG)
cwr2 7 Small deletion GGCCGAATCCTGCTCCTCTC tmc2bcwr2 5-bp deleted 266/892 −5 bp at c.799–703 (−GAGGA)
cwr8 6 Small deletion GGACTAAACCTTGTTCTCTT tmc2bcwr8 5-bp deleted 236/892 −5 bp at c.710–714 (−TCTTC)