From: Expanding ACMG variant classification guidelines into a general framework
Variant | gpAF in gnomADa | hspAF in gnomADa | |
---|---|---|---|
Nucleotide change | Amino acid change | ||
Triplication CNV | Absent | ||
Duplication CNV | Absent | ||
Double “gain-of-function” CNV | Absent | ||
c.47C > T | p.Ala16Val | Absent [78] | |
c.49C > A | p.Pro17Thr | Absent | |
c.56A > C | p.Asp19Ala | Absent | |
c.62A > C | p.Asp21Ala | Absent | |
c.65A > G | p.Asp22Gly | Absent | |
c.68A > G | p.Lys23Arg | Absent | |
c.63_71dup | p.Lys23_Ile24insIleAspLys | Absent | |
c.86A > T | p.Asn29Ile | Absent | |
PRSS1-PRSS2 hybrid (gene conversion) | p.Asn29Ile + p.Asn54Ser | Absent | |
c.86A > C | p.Asn29Thr | Absent | |
PRSS1-PRSS2 hybrid (gene conversion) | p.Asn29Ile + p.Asn54Ser | Absent | |
c.116 T > C | p.Val39Ala | Absent | |
c.276G > T | p.Lys92Asn | 0.000007953 | 0.00006152 (African/African American) |
c.364C > T | p.Arg122Cys | 0.00001988 | 0.00003517 (non-Finnish European) |
c.365G > A | p.Arg122His | 0.00001194 | 0.00002639 (non-Finnish European) |
c.365_366GC > AT | p.Arg122His | Absent |