Table 2

Rare variants in GPR174 indentified in 2608 cases and 2328 controls from resequencing

LocationNucleotideAmino acidNumber of variant carriers
Female casesMale casesFemale controlsMale controls
5'UTRC-20T/7†110
5'UTRT-17C/1000
ExonC8TAla3Val1000
ExonG26AArg9Lys1000
ExonC57TTyr19Tyr1000
ExonC121TLeu41Leu1000
ExonG160AAla54Thr1000
ExonG374AArg125His0100
ExonC444TAla148Ala5†210
ExonT474ASer158Arg0010
ExonA574TIle192Phe1000
ExonG591APro197Pro1100
ExonG778AGlu260Lys0010
ExonC797TAla266Val0010
ExonG924TLeu308Phe0100
ExonA929GAsp310Gly1000
ExonA975GAla325Ala1020
ExonA1001G*333*1†000
3'UTRC1082A/1000
3'UTRG1132A/1000
3'UTRT1184C/0010
3'UTRC1194T/0110
  • Female cases, n=1830; male cases, n=778; female controls, n=1272; male controls, n=1056.

  • *Represents a stop codon.

  • †The number includes one female carrying a homozygous rare variant.

  • UTR, untranslated region.