Table 2 Genetic variants identified in the study population
From: New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study
PTPN11 | |
- NM_002834.5(PTPN11):c.417G > C (p.Glu139Asp) | |
- NM_002834.5(PTPN11):c.1510A > G (p.Met504Val) | |
- NM_002834.5(PTPN11):c.172A > G (p.Asn58Asp) | |
- NM_002834.5(PTPN11):c.1391G > C (p.Gly464Ala) | |
- NM_002834.5(PTPN11):c.214G > T (p.Ala72Ser) | |
- NM_002834.5(PTPN11):c.214G > T (p.Ala72Ser) | |
- NM_002834.5(PTPN11):c.922A > G (p.Asn308Asp) | |
- NM_002834.5(PTPN11):c.1403C > T (p.Thr468Met) | |
- NM_002834.5(PTPN11):c.1471C > T (p.Pro491Ser) | |
- NM_002834.5(PTPN11):c.205G > C (p.Glu69Gln) | |
- NM_002834.5(PTPN11):c.836A > G (p.Tyr279Cys) | |
- NM_002834.5(PTPN11):c.417G > C (p.Glu139Asp) | |
- NM_002834.5(PTPN11):c.218C > T (p.Thr73Ile) | |
SOS | |
- NM_005633.4(SOS1):c.1132A > G (p.Thr378Ala) | |
RAF1 | |
- NM_002880.4(RAF1):c.770C > T (p.Ser257Leu) | |
SHOC2 | |
- NM_007373.4(SHOC2):c.4A > G (p.Ser2Gly) | |
KRAS | |
- NM_004985.5(KRAS):c.40G > A (p.Val14Ile) | |
- NM_004985.5(KRAS):c.101C > T (p.Pro34Leu) |