Position | Substitution | Effect | Templated | Alleles |
exon 9 |
---|
25321889 | 1154 | 1154G>A | G385D | | RHD(G385D) |
25321889 | 1154 | 1154G>C | G385A | | weak D type 2.2 weak D type 2 weak D type 2.1 |
25321889 | 1154 | 1154G>T | G385V | | RHD(G385V) |
25321892 | 1157 | 1157T>A | L386X | | RHD(L386X) |
25321893 | 1158 | 1158G>T | p.Leu386Phe | | |
25321899 | 1164 | 1164A>T | p.Leu388Leu | | |
25321900 | 1165 | 1165A>G | p.Asn389Asp | | |
25321901 | 1166 | 1166A>G | p.Asn389Ser | | |
25321901 | 1166 | 1166del A | | | RHD(1166delA) |
25321903 | 1168 | 1168C>G | L390V | | weak D type 134 |
25321904 | 1169 | 1169T>C | L390P | | weak D type 139 |
25321905 | 1170 | 1170T>C | | X | DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 |
25321905 | 1170 | 1170T>C | L390L | | RHD(L390L) weak D type 41.0.1 |
25321909 | 1174 | 1174del A | | | RHD(1174delA) |
25321910 | 1175 | 1175T>A | p.Ile392Lys | | |
25321910 | 1175 | 1175T>C | I392T | | RHD(I392T) |
25321912 | 1177 | 1177T>C | W393R | | weak D type 10.1 weak D type 10.2 weak D type 10 |
25321914 | 1179 | 1179G>A | W393X | | RHD(W393X) |
25321916 | 1181 | 1181A>C | Lys394Thr | | RHD(K394T) |
25321919 | 1184 | 1184C>T | A395V | | weak D type 82 |
25321921 | 1186 | 1186C>T | p.Pro396Ser | | |
25321922 | 1187 | 1187C>G | P396R | | weak D type 91 |
25321923 | 1188 | 1188T>G | p.Pro396Pro | | |
25321924 | 1189 | 1189C>A | p.His397Asn | | |
25321925 | 1190 | 1190A>G | H397R | | weak D type 156 |
25321928 | 1193 | 1193A>T | E398V | X | DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D weak D type 41.0.1 RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 41 |
25321929 | 1194 | 1194G>C | E398D | | weak D type 75 |
25321930 | 1195 | 1195G>A | A399T | | DVI type 3.2 RHD(216dupCA,1195G>A) RHD(D35E,A399T) RHD(G263R,A399T) RHD(R114Q,A399T) weak D type 45.2 RHD(V147M,A399T) weak D type 45 weak D type 45.1 |
25321933 | 1198 | 1198A>C | p.Lys400Gln | | |
25321934 | 1199 | 1199A>C | K400T | | weak D type 10.2 weak D type 81 |
25321934 | 1199 | 1199A>T | K400I | | weak D type 126 |
25321935 | 1200 | 1200A>T | K400N | | weak D type 127 |
25321938 | 1203 | 1203T>A | Y401X | | RHD(Y401X) |
25321942 | 1207 | 1207G>T | D403Y | | weak D type 128 |
25321943 | 1208 | 1208A>T | D403V | | weak D type 129 |
25321944 | 1209 | 1209del T | | | RHD(1209delT) |
25321945 | 1210 | 1210G>C | D404H | | RHD(D404H) |
25321947 | 1212 | 1212C>A | D404E | | RHD(G368W,D404E) weak D type 72 |
25321948 | 1213 | 1213C>G | Q405E | | weak D type 68 |
25321948 | 1213 | 1213C>T | Q405X | | RHD(Q405X) |
25321950 | 1215 | 1215A>C | Q405H | | weak D type 76 |
25321950 | 1215 | 1215A>G | p.Gln405Gln | | |
25321954 | 1219 | 1219del TTCTGG | 407delFW | | weak D type 60 |
25321956 | 1221 | 1221C>A | F407L | | weak D type 46 |
25321957 | 1222 | 1222T>C | W408R | | RHD(W408R) |
25321959 | 1224 | 1224G>C | W408C | | weak D type 22 |
25321961 | 1226 | 1226A>T | K409M | | weak D type 42 |
25321962 | 1227 | 1227G>A | | | RHD(1227G>A) RHD(255G>A, 1227G>A,) RHD(IVS7+152C>A,1227G>A) |