Position | Substitution | Effect | Templated | Alleles | |
exon 8 | |||||
---|---|---|---|---|---|
25317006 | 1080 | 1080del CTTCCAGGTC | RHD(1080del10) RHD(520G>A,1080_1989del) | ||
25317010 | 1084 | 1084C>T | Q362X | RHD(Q362X) | |
25317028 | 1102 | 1102G>A | G368R | RHD(G368R) | |
25317028 | 1102 | 1102G>T | G368W | RHD(G368W,D404E) | |
25317031 | 1105 | 1105G>A | Glu369Lys | RHD(E369K) | |
25317033 | 1107 | 1107A>C | E369D | weak D type 99 | |
25317036 | 1110 | 1110C>T | L370L | RHD(L370L) | |
25317047 | 1121 | 1121T>A | I374N | weak D type 32 | |
25317048 | 1122 | 1122C>T | I374I | DAU-5.1 | |
25317058 | 1132 | 1132C>G | L378V | DOL-2 | |
25317059 | 1133 | 1133T>C | Leu378Pro | RHD(L378P) | |
25317059 | 1133 | 1133del T | p.Leu378ProfsTer6 | ||
25317062 | 1136 | 1136T>C | p.Met379Thr | ||
25317062 | 1136 | 1136C>T | T379M | DAU-13 DAU-0 DAU-0.1 DAU-1 DAU-2 DAU-3 DAU-4 DAU-5 DAU-6 DAU-7 DAU-0.2 DAU-11 DAU-9 DAU-5.1 RHD(G263L,T379M) RHD(IVS4+1G>T,1136C>T) DAU-12 RHD(M1_S2insV,T379M) RHD(M1V,T379M) DAU-8 RHD(S254L,T379M) DAU-14 DAU-10 | |
25317067 | 1141 | 1141G>C | G381R | RHD(G381R) | |
25317071 | 1145 | 1145T>C | L382P | weak D type 92 weak D type 10.1 | |
25317074 | 1148 | 1148T>C | L383P | weak D type 59 | |
25317078 | 1152 | 1152A>C | T384T | weak D type 28 |