Table S1: Type of mutations

Mutation type / Detection# / Fragment / Number of samples with the mutation
HETEROZYGOUS
SNPs / c.[200+1G>A]+[=] / A / 1
c.[37C>T]+[=] / A / 1
c.[65C>A]+[=] / B / 1
c.[128G>A]+[=] / B / 1
c.[199A>T]+[=] / E / 1
c.[239G>T]+[=] / F / 1
c.[276C>T]+[=] / F / 1
c.[308A>G]+[=] / C / 1
c.[398G>A]+[=] / D / 1
c.[433C>T]+[=] / D / 1
c.[406C>T]+[=] / D / 1
c.[473C>A]+[=] / D / 1
c.[476A>G]+[=] / D / 1
c.[481G>A]+[=] / G / 1
c.[520G>A]+[=] / G / 2
c.[553G>T]+[=] / G / 1
c.[553G>A]+[=] / G / 1
c.[581C>T]+[=] / G / 1
c.[605T>C]+[=] / G / 1
c.[761-8C>T]+[=] / H / 1
c.[652G>A]+[=] / H / 1
c.[664G>A]+[=] / H / 1
c.[685C>T]+[=] / H / 1
c.[689C>T]+[=] / H / 1
c.[740A>C]+[=] / H / 1
c.[747G>A]+[=] / I / 1
c.[891-11T>G]+[=] / J / 1
c.[891-2A>C]+[=] / M / 1
c.[779C>T]+[=] / J/M / 3
c.[842C>A]+[=] / J / 1
c.[848T>C]+[=] / J / 1
c.[856A>G]+[=] / J / 1
c.[864C>T]+[=] / J / 1
c.[865G>A]+[=] / M / 1
c.[869G>A]+[=] / J / 1
c.[881G>A]+[=] / N/P / 2
c.[897G>T]+[=] / N / 1
c.[910G>A]+[=] / P / 1
c.[950T>C]+[=] / N / 1
c.[957G>A]+[=] / N / 1
c.[1054A>G]+[=] / P / 1
c.[1066A>G]+[=] / N / 1
c.[1076C>T]+[+] / P / 1
c.[1215+1G>T]+[=]* / N / 1
c.[1215+2T>C]+[=] / N / 1
c.[1096C>T]+[=] / K / 1
c.[1097G>A]+[=] / K / 3
c.[1103A>C]+[=] / K / 1
c.[1153C>T]+[=] / K / 1
c.[1180G>A]+[=] / K / 1
c.[1320+1G>A]+[=] / K / 1
c.[1321-15A>G]+[=] / L / 1
c.[1196T>A]+[=] / L / 1
c.[1198G>A]+[=] / L / 1
c.[1213G>C]+[=] / L / 1
c.[1214A>C]+[=] / L / 1
c.[1226C>T]+[=] / L / 1
c.[1269G>A]+[=] / L / 1
c.[1273G>A]+[=] / O / 1
c.[1316G>A]+[=] / O / 2
c.[1322G>A]+[=] / O / 1
c.[1349G>A]+[=] / Q/X / 2
c.[1358G>A]+[=] / Q/X / 1
c.[1360G>C]+[=] / Q / 1
c.[1367G>A]+[=] / Q/X / 3
c.[1376G>A]+[=] / X / 1
c.[1388G>A]+[=] / Q / 1
c.[1393G>A]+[=] / Q / 1
c.[1405C>T]+[=] / X / 2
c.[1406G>A]+[=] / Q / 1
c.[1505T>C]+[=] / R / 1
c.[1598G>A]+[=] / U / 1
c.[1600G>A]+[=] / U / 1
c.[1616C>A]+[=] / V / 1
c.[1673T>C]+[=] / V / 1
c.[1817-6G>A]+[=] / Z / 3
c.[1714G>A]+[=] / Z / 1
c.[1748C>T]+[=] / Z / 1
c.[1748C>G]+[=] / Z / 1
c.[1751A>G]+[=] / Z / 1
c.[1824C>T]+[=] / S / 1
c.[1837C>T]+[=] / T / 2
c.[1923G>C]+[=] / T / 2
c.[1843C>T]+[=] / T / 1
Small ins/del / c.[102delC]+[=] / B / 1
c.[249_50del]+[=] / F / 1
c.[296_97del]+[=] / C / 1
c.[343delG]+[=] / D / 1
c.[380_82del]+[=] / D / 1
c.[539insC]+[=] / G / 1
c.[644_47del]+[=] / H / 2
c.[778ins2bp]+[=] / J / 1
c.[830_32del]+[=] / M / 2
c.[888-89del]+[=] / N / 1
c.[889_91del]+[=] / P / 1
c.[1062_64del]+[=] / N / 1
c.[1077_1077+1delinsCAG]+[=] / P / 1
c.[1141_43del]+[=] / K / 1
c.[1282delA]+[=] / O / 1
c.[1808insT]+[=] / S / 1
c.[1892insT]+[=] / T / 1
Large ins/del / c.[419_59del]+[=] / D / 1
c.[428_67del]+[=] / D / 1
c.[881_87del]+[=] / N / 1
c.[1245_67del]+[=] / L / 1
COMPOUND HETEROZYGOUS
c.[187delA]+[192A>G] / E / 1
c.[694G>A]+[722A>G] / I / 1
c.[779C>T]+[830_32del] / J / 1
c.[848T>C]+[891-2A>C] / J / 1
c.[1117A>T]+[1153C>T] / K / 1
c.[1360G>A]+[1375C>T] / X / 1
HOMOZYGOUS
SNPs / c.[65C>A]+[65C>A] / B / 1
c.[327_28GT>CC]+[327_28GT>CC] / C / 1
c.[643C>T]+[643C>T] / H / 1
c.[745T>C]+[745T>C] / H / 1
c.[761G>A]+[761G>A] / J / 1
c.[1022G>A]+[1022G>A] / P / 1
c.[1325T>C]+[1325T>C] / O / 1
c.[1405C>T]+[1405C>T] / Q / 1
c.[1406G>A]+[1406G>A] / Q / 1
c.[1817-6G>A]+[1817-6G>A] / Z / 1
c.[1700G>A]+[1700G>A] / Z / 1
Small ins/del / c.[616-21_22del]+[616-21_22del] / G / 1
c.[708_709del]+[708_709del] / I / 1
c.[710_11del]+[710_11del] / I / 1
c.[799_802del]+[799_802del] / J / 1
c.[857delG]+[857delG] / J / 1
c.[1497_99del]+[1497_99del] / R / 1
Large ins/del / c.[1630_46del]+[1630_46del] / V / 1

All variants are described according to the HGVS nomenclature system (http://www.hgvs.org/mutnomen/) using the cDNA reference sequence of ACADVL (NM_000018.2) with the initiating ATG codon numbered as bp 1-3.

#Variations, which in homozygous form were detected before mixing with wild-type are written in normal letters/numbers. Variations, which in homozygous form required mixing with wild-type for correct detection are listed in bold and the variation, which was not detected is written in italic.

* The sample containing the heterozygous c.[1215+1G>T]+[=] ACADVL variation was detected by HRM analysis after mixing with wild-type sample. However, HRM analysis of a new PCR product, amplified from the same DNA sample, correctly identified the heterozygous sample as mutant before mixing with wild-type sample.