List of variants studied for Noonan syndrome by DASA

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	rs397507548
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	rs397507505
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	rs397507530
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)	rs397516828
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	rs397517042
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	rs397517180
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	rs104894359

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