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Article title: Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing
Journal: Immmunogenetics
Authors: Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M. Nöthen Heide Fier, Gerhard J. Molderings
Corresponding author: Gerhard J. Molderings, Institute of Human Genetics, University Hospital of Bonn, D-53127 Bonn, Germany,
List of variants in the 25 candidate genes detected in the 1000 Genomes Project but not in the present MCAS cohort. ns – not significant; Fisher’s exact test.
Chromosome # / Gene / rs-Number / Mutation / 1000 Genomes project allele frequency (n=1006) / Statistics1 / NRAS
1 / NLRP3 / rs200154873 / D21H / 0.10% / ns
rs121908147 / V200M / 1.19% / ns
rs201477228 / P298L / 0.10% / ns
rs185564694 / S326P / 0.10% / ns
rs201267625 / K374E / 0.10% / ns
rs145268073 / R490K / 0.10% / ns
rs200089426 / Y635Stop / 0.10% / ns
rs139814109 / T954K / 0.30% / ns
2 / IDH1 / rs142923780 / F32V / 0.20% / ns
rs148542200 / I112V / 0.10% / ns
2 / DNMT3A / rs201097136 / A254T / 0.10% / ns
rs139053291 / G352A / 0.10% / ns
rs149738328 / N501S / 0.10% / ns
rs551213321 / G642Stop / 0.10% / ns
rs74708853 / S775P / 0.10% / ns
2 / SF3B1 / rs190499887 / T7I / 0.10% / ns
rs199519570 / H8T / 0.10% / ns
4 / KIT / rs189660852 / L117I / 0.10% / ns
rs72549294 / N400S / 0.10% / ns
rs569408054 / P518L / 0.10% / ns
rs72550822 / V530I / 0.10% / ns
4 / TET2 / rs551797762 / L1322Q / 0.10% / ns
rs577810844 / H1380Y / 0.10% / ns
5 / IL13
5 / IL4 / rs199819530 / H98D / 0.10% / ns
6 / TNF / rs4645843 / P84L / 0.20% / ns
7 / EZH2 / rs189454324 / H129Y / 0.10% / ns
rs566622851 / I481L / 0.10% / ns
9 / JAK2 / rs552162949 / V567I / 0.10% / ns
rs571063715 / S1115C / 0.10% / ns
11 / CBL / rs200341293 / R420Stop / 0.10% / ns
rs200442365 / A513T / 0.10% / ns
rs144130138 / P536S / 0.10% / ns
rs552590011 / R631G / 0.10% / ns
rs117204536 / M649T / 0.10% / ns
rs553979171 / S675C / 0.10% / ns
rs2227986 / S739F / 0.10% / ns
rs140725852 / V784M / 0.10% / ns
11 / MS4A2
11 / KMT2A / rs201155865 / S96L / 0.10% / ns
rs149404438 / S1325N / 0.10% / ns
rs143317202 / R1630Q / 0.10% / ns
rs141727765 / R2191Q / 0.10% / ns
rs191446381 / H2996R / 0.10% / ns
rs187112243 / K3104E / 0.10% / ns
rs149340870 / A3359V / 0.10% / ns
rs117099452 / I3440V / 0.60% / ns
rs146191865 / L3617P / 0.10% / ns
12 / KRAS
12 / ETV6 / rs184240587 / A329T / 0.10% / ns
15 / IDH2 / rs576407061 / E174K / 0.10% / ns
17 / SRSF2
17 / TP53 / rs28934576 / R273H / 0.10% / ns
rs55819519 / R290H / 0.10% / ns
18 / SETBP1 / rs140717709 / R54H / 0.20% / ns
rs200966921 / R401W / 0.10% / ns
rs576758055 / L452F / 0.10% / ns
rs189891219 / M502T / 0.10% / ns
rs537693683 / R625Q / 0.10% / ns
rs146193261 / R627C / 0.10% / ns
rs540801169 / A630E / 0.10% / ns
rs530739140 / E706G / 0.10% / ns
rs149162154 / H1100R / 0.10% / ns
rs530911838 / G1176D / 0.10% / ns
rs569465675 / M1358T / 0.10% / ns
rs145549368 / A1366T / 0.10% / ns
rs576228571 / N1426K / 0.10% / ns
rs117498128 / E1466D / 0.30% / ns
19 / RASGRP4 / rs561844658 / F428L / 0.10% / ns
rs570499971 / K583Q / 0.10% / ns
rs142842646 / D585N / 0.10% / ns
rs530924409 / D658H / 0.10% / ns
20 / ASXL1 / rs199846284 / Q372K / 0.10% / ns
rs149678774 / H1524Y / 0.10% / ns
rs539520990 / P570L / 0.10% / ns
rs537734228 / G653R / 0.10% / ns
rs41289850 / P779L / 0.20% / ns
rs199571804 / G1154R / 0.10% / ns
rs146141075 / M1249V / 0.50% / ns
rs6057581 / L1325F / 0.30% / ns
rs375493039 / P1340T / 0.10% / ns
rs201989261 / T1372S / 0.10% / ns
rs554525759 / P1446A / 0.10% / ns
21 / U2AF1
21 / RUNX1 / rs202037007 / R306C / 0.10% / ns
rs202068364 / M418R / 0.1% / ns
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