Table 2.
MYO15A variants of unknown significance
| Exon/ intron | Location on chromosome 17 (GRCh37/hg19) | Nucleotide change (NM_016239.3) | Protein change (NP_057323.3) | References |
|---|---|---|---|---|
| 2 | 18022628C>T | c.514C>T | p.(Leu172Phe) | Miyagawa et al., 2013 |
| 2 | 18022668G>A | c.554G>A | p.(Gly185Asp) | Miyagawa et al., 2013 |
| 2 | 18022727T>C | c.613T>C | p.(Phe205Leu) | Miyagawa et al., 2013 |
| 2 | 18022785A>G | c.671A>G | p.(Tyr224Cys) | Miyagawa et al., 2013 |
| 2 | 18022856C>G | c.742C>G | p.(Arg248Gly) | this study |
| 2 | 18023337C>T | c.1223C>T | p.(Ala408Val) | Brownstein et al., 2014 |
| 2 | 18023501A>G | c.1387A>G | p.(Met463Val) | Fattahi et al., 2012 |
| 2 | 18023568T>C | c.1454T>C | p.(Val485Ala) | Sloan-Heggen et al., 2015 |
| 2 | 18023748C>T | c.1634C>T | p.(Ala545Val) | Sloan-Heggen et al., 2016 |
| 2 | 18025140C>A | c.3026C>A | p.(Pro1009His) | Yang et al., 2013 |
| 11 | 18035776G>A | c.4216G>A | p.(Glu1406Lys) | Miyagawa et al., 2013 |
| 16 | 18040946G>A | c.4828G>A | p.(Glu1610Lys) | Miyagawa et al., 2013 |
| 17 | 18041441C>G | c.4888C>G | p.(Arg1630Gly) | Miyagawa et al., 2013 |
| 17 | 18041505C>T | c.4952C>T | p.(Ser1651Leu) | Sloan-Heggen et al., 2015 |
| 19 | 18043829A>G | c.5212-2A>G | splice site | Atik et al., 2015 |
| 20 | 18043955T>C | c.5336T>C | p.(Leu1779Pro) | Ammar-Khodja et al., 2015 |
| 26 | 18046936G>A | c.5964+3G>A | splice site | Gao et al., 2013 |
| 29 | 18047850C>T | c.6217C>T | p.(Pro2073Ser) | Shearer et al., 2009 |
| 31 | 18051447C>T | c.6614C>T | p.(Thr2205Ile) | Liburd et al., 2001 |
| 32 | 18051821T>C | c.6703T>C | p.(Ser2235Pro) | Miyagawa et al., 2015 |
| 33 | 18052106G>A | c.6796G>A | p.(Val2266Met) | Nal et al., 2007 |
| 33 | 18052203G>A | c.6893G>A | p.(Arg2298Gln) | Sloan-Heggen et al., 2015 |
| 33 | 18052275C>G | c.6956+9C>G | splice site | Yang et al., 2013 |
| 37 | 18054082G>A | c.7395+3G>A | splice site | Riahi et al., 2014 |
| 39 | 18054500C>G | c.7550C>G | p.(Thr2517Ser) | Sloan-Heggen et al., 2016 |
| 40 | 18054733G>A | c.7679G>A | p.(Arg2560Gln) | Sloan-Heggen et al., 2016 |
| 42 | 18055426G>T | c.7894G>T | p.(Val2632Leu) | Bademci et al., 2015 |
| 45 | 18058072A>G | c.8224+3A>G | splice site | this study |
| 47 | 18058737G>A | c.8450G>A | p.(Arg2817His) | Gu et al., 2015 |
| 51 | 18061059G>A | c.8812G>A | p.(Gly2938Arg) | Sloan-Heggen et al., 2016 |
| 57 | 18064722C>T | c.9478C>T | p.(Leu3160Phe) | Nal et al., 2007; Miyagawa et al., 2013; Miyagawa et al., 2015 |
| 59 | 18066565G>A | c.9620G>A | p.(Arg3207His) | Bademci et al., 2015 |
| 60 | 18067146A>T | c.9781A>T | p.(Asn3261Tyr) | Miyagawa et al., 2013 |
| 61 | 18069795A>G | c.9908A>G | p.(Lys3303Arg) | Sloan-Heggen et al., 2016 |
| 63 | 18075050C>T | c.10181C>T | p.(Ala3394Val) | Sloan-Heggen et al., 2016 |
| 64 | 18075517C>G | c.10263C>G | p.(Ile3421Met) | Miyagawa et al., 2015 |
| 65 | 18077138G>A | c.10394G>A | p.(Arg3465Gln) | Sloan-Heggen et al., 2016 |
See Supp. Table S1 for more details.