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Table 11 (Abstract P5). Shared identical variants classified as likely pathogenic

From: Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part one

Gene

Variant

Coordinate

Transcript

Consequence

dbSNP ID

CTBP2

T > T/A

126727602

  

rs76555439

HYDIN

GA > GA/G

70896015

NM_032821.2

frameshift_variant, feature_truncation

rs77276171

ZNF717

A > A/T

75786827

NM_001128223.1

stop_gained

rs79635065

ZNF717

C > C/A

75786916

NM_001128223.1

stop_gained

rs78906544

ZNF717

G > G/T

75787127

NM_001128223.1

stop_gained

rs74740396, rs148624740

ZNF717

T > T/TA

75787352

NM_001128223.1

frameshift_variant, feature_elongation

 

ZNF717

GAA > GAA/G

75787645

NM_001128223.1

frameshift_variant, feature_truncation

rs67117547, rs141065192

ZNF717

G > G/C

75788028

NM_001128223.1

stop_gained

rs77971486, rs150689808