COL4A3 | |||
c.127G > C | p.G43R | heterozygous | benign |
c.422 T > C | p.L141P | homozygous | benign |
c.485A > G | p.E162G | homozygous | benign |
c.805G > A | p.E269K | heterozygous | benign/likely benign |
c.1721C > T | p.P574L | heterozygous | benign |
COL4A4 | |||
c.839 T > G | p.M280R | heterozygous | unreported |
c.1444C > T | p.P482S | heterozygous | benign |
c.2656C > A | p.L886I | heterozygous | synonymous |
c.3011C > T | p.P1004L | heterozygous | benign |
c.3979G > A | p.V1327 M | homozygous | benign |
c.4207 T > C | p.S1403P | homozygous | benign |