Table 3 Clinical characteristics of patients carrying potential contributory variants
Sample ID | Variant(s) | Diagnosed age, yr | Sex | Position | Clinical typeb | Hypertension |
|---|---|---|---|---|---|---|
IVAD61 | NM_000090.3(COL3A1):c.1258G>A(p.Gly420Ser) | 54 | Female | Vertebral artery | I | No |
IVAD49 | NM_000090.3(COL3A1):c.1815+5G>A NM_000090.3(COL3A1):c.3133G>A(p.Ala1045Thr) | 30 | Female | Vertebral artery | IV | No |
IVAD51 | NM_000138.4(FBN1):c.3455C>T(p.Ala1152Val) | 47 | Male | Vertebral artery | I | No |
IVAD73 | NM_002473.4(MYH9):c.487C>T(p.Gln163Ter) | 58 | Male | Vertebral artery | III | No |
IVAD53 | NM_005583.4(LYL1):c.748C>T(p.Gln250Ter) | 51 | Female | Vertebral artery | I | No |
IVAD5a | NM_022553.4(VPS52):c.1492C>T(p.Arg498Cys) | 5 | Female | Vertebral artery | IV | No |
IVAD23a | NM_212503.2(CDK18):c.426G>C(p.Lys142Asn) | 8 | Female | Basilar artery | IV | No |
IVAD26 | NM_017617.3(NOTCH1):c.3988C>T(p.Arg1330Cys) NM_017617.3(NOTCH1):c.3076G>A(p.Asp1026Asn) | 60 | Male | Vertebral artery | I | No |
IVAD47 | NM_001456.3(FLNA):c.473A>G(p.Glu158Gly) | 39 | Male | Vertebral artery | I | No |
IVAD54 | NM_017617.3(NOTCH1)c.4334T>C | 37 | Male | Vertebral artery | I | Yes |
IVAD62 | NM_000393.3(COL5A2):c.4496T>C(p.Val1499Ala) | 48 | Male | Vertebral artery | III | Yes |
IVAD72 | NM_000138.4(FBN1):c.571A>G(p.Ser191Gly) | 47 | Male | Vertebral artery | IV | Yes |
IVAD74 | NM_145859.1(PDCD10):c.34G>C(p.Ala12Pro) | 43 | Male | Vertebral artery | I | Yes |
IVAD80 | NM_000393.3(COL5A2):c.2230-6T>C | 22 | Male | Vertebral /basilar artery | I | No |
IVAD82a | NM_019105.6(TNXB):c.7826-4C>T NM_019105.6(TNXB):c.7802C>T(p.Pro2601Leu) | 8 | Male | Vertebral artery | III | No |
