Allele | Phenotype | Mechanism |
1991 | ||
---|---|---|
RHD deletion | D negative | large deletion |
1992 | ||
1993 | ||
1994 | ||
DVI type 1 (deletion type) (obsolete) | D category Partial D | large deletion |
DVI type 2 | Partial D D category BARC positive | hybrid allele |
1995 | ||
DFR-1 | Partial D | hybrid allele |
DIIIb (Caucasian) (obsolete) | weakened D expression Partial D | hybrid allele |
DIV type 1.1 (obsolete) | Partial D D category | Multiple missense mutations |
DIVb type 2 | Partial D | hybrid allele |
DV type 1 | Partial D D category | hybrid allele |
DV type 2 | Partial D D category | hybrid allele |
DVII | Partial D D category | Single missense mutation |
1996 | ||
DBS-0 | Partial D | hybrid allele |
DBT-1 | Partial D | hybrid allele |
DHAR | Partial D | hybrid allele |
DHMi | Partial D | Single missense mutation |
DHMii | Partial D | hybrid allele |
DIIIc | Partial D D category | hybrid allele |
RHD(S103P) | Partial D | Single missense mutation |
RHD-RHCe(2-9)-RHD | D negative | hybrid allele |
RHD-RHCE(4-7)-RHD | D negative DEL | hybrid allele |
1997 | ||
DFR-2 | Partial D | hybrid allele |
DHR | Partial D | Single missense mutation |
DII | Partial D D category | Single missense mutation |
DNU | Partial D | Single missense mutation |
DVI type 1 | D category Partial D | hybrid allele |
RHD(G314V) | D negative | Missense (splice site affected) |
RHD(N152T,T201R,F223V) (obsolete) | Partial D | Multiple missense mutations |
RHD(Q41X) | D negative | Nonsense mutation |
RHD-RHCE(8-9)-RHD | D negative | hybrid allele |
1998 | ||
DAR1 (weak D type 4.2.0) | Partial D weak D type weakened D expression | Multiple missense mutations |
DFW | Partial D | Single missense mutation |
DHK | Partial D | Single missense mutation |
DIV type 4 | Partial D D category | hybrid allele |
DV type 4 | Partial D D category | Single missense mutation |
DV type 6 | Partial D D category | hybrid allele |
DV type 8 | Partial D D category | hybrid allele |
DVI type 3 | Partial D D category BARC positive | hybrid allele |
RHD(489delAGAC) | D negative | Short deletion |
RHD(del Ex9) (obsolete) | DEL | large deletion |
1999 | ||
DBT-2 | Partial D | hybrid allele |
DCS-1 | Partial D | hybrid allele |
DIV type 3 | Partial D D category | hybrid allele |
DMH | Partial D | Missense (splice site affected) |
DOL-1 | Partial D | Multiple missense mutations |
DV type 9 | Partial D D category | hybrid allele |
RHD(I60L,N152T,T201R,F223V,G263R) (obsolete) | Partial D | Multiple missense mutations |
weak D type 1 | weak D type weakened D expression | Single missense mutation |
weak D type 10 | weak D type weakened D expression | Single missense mutation |
weak D type 11 | weak D type weakened D expression Partial D | Single missense mutation |
weak D type 12 | weak D type weakened D expression | Single missense mutation |
weak D type 13 | weak D type weakened D expression | Single missense mutation |
weak D type 14 | weak D type weakened D expression | Multiple missense mutations |
weak D type 15 | weak D type weakened D expression Partial D | Single missense mutation |
weak D type 16 | weak D type weakened D expression | Single missense mutation |
weak D type 2 | weak D type weakened D expression | Missense (splice site affected) |
weak D type 3 | weak D type weakened D expression | Single missense mutation |
weak D type 4.0 | weak D type weakened D expression Partial D | Multiple missense mutations |
weak D type 5 | weak D type weakened D expression | Single missense mutation |
weak D type 6 | weak D type weakened D expression | Single missense mutation |
weak D type 7 | weak D type weakened D expression | Single missense mutation |
weak D type 8 | weak D type weakened D expression | Single missense mutation |
weak D type 9 | weak D type weakened D expression | Single missense mutation |
2000 | ||
DIII type 4 | Partial D D category | hybrid allele |
DIM | Partial D weakened D expression | Single missense mutation |
DIV type 5 | Partial D D category | hybrid allele |
DKK | Partial D | hybrid allele |
DVI type 4 | Partial D D category | hybrid allele |
RHD psi | D negative | Complex changes |
weak D type 17 | weak D type weakened D expression | Single missense mutation |
weak D type 18 | weak D type weakened D expression | Single missense mutation |
weak D type 20 | weak D type | Single missense mutation |
weak D type 22 | weak D type weakened D expression | Single missense mutation |
weak D type 4.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 4.2.1 (DAR1.1) | Partial D weak D type weakened D expression | Multiple missense mutations |
weak D type 4.2.2 (DAR1.2) | Partial D weak D type weakened D expression | Multiple missense mutations |
2001 | ||
DBS-1 | Partial D | hybrid allele |
DHO | Partial D weakened D expression | Single missense mutation |
DV type 7 | D category Partial D | hybrid allele |
DVII type 2 | Partial D | Multiple missense mutations |
RHCE(1-9)-RHD | D negative | hybrid allele |
RHD(1227G>A) | DEL | Splice site mutation |
RHD(G212V) | D negative | Missense (splice site affected) |
RHD(IVS1+1G>A) | DEL | Splice site mutation |
RHD(IVS3+1G>A) | DEL D negative | Splice site mutation |
RHD(IVS8+1G>A) | D negative | Splice site mutation |
RHD(M295I) | DEL Partial D | Single missense mutation |
RHD(W16X) | D negative | Nonsense mutation |
RHD(Y330X) | D negative | Nonsense mutation |
RHD-RHCe(2-7)-RHD | D negative | hybrid allele |
weak D type 21 | weak D type Partial D weakened D expression | Single missense mutation |
weak D type 23 | weak D type weakened D expression | Single missense mutation |
2002 | ||
D674 | Single missense mutation | |
DAU-0 | D positive (apparently normal) Partial D | Single missense mutation |
DAU-1 | Partial D | Multiple missense mutations |
DAU-2 | Partial D weakened D expression | Multiple missense mutations |
DAU-3 | Partial D | Multiple missense mutations |
DAU-4 | Partial D weakened D expression | Multiple missense mutations |
DFV | Partial D | Single missense mutation |
DNB | Partial D | Single missense mutation |
RHCE(1)-D(6)-CE(7-10) | D negative | large deletion |
RHD(711del C) | D negative | Short deletion |
RHD(909ins TGGCT, IVS6+2del TAAG) | D negative | Complex changes |
RHD(IVS7+152C>A,1227G>A) | DEL | Splice site mutation |
RHD(W90X) | D negative | Nonsense mutation |
weak D type 27 | weak D type weakened D expression | Single missense mutation |
weak D type 28 | weak D type weakened D expression | Splice site mutation |
2003 | ||
RHD(1347A>G) | untranslated region | |
DAU-0.1 | Multiple missense mutations | |
DBA | weakened D expression | Single missense mutation |
DLO | weakened D expression Partial D | Single missense mutation |
DMA | Single missense mutation | |
DYU | Partial D | Single missense mutation |
RHD(Q49R) | weakened D expression | Single missense mutation |
weak D type 24 | weak D type weakened D expression | Single missense mutation |
weak D type 29 | weak D type weakened D expression | Multiple missense mutations |
weak D type 30 | weak D type weakened D expression | Multiple missense mutations |
weak D type 33 | weak D type weakened D expression | Single missense mutation |
weak D type 34 | weak D type weakened D expression | Single missense mutation |
weak D type 35 | weak D type weakened D expression | Single missense mutation |
weak D type 37 | weak D type weakened D expression | Single missense mutation |
weak D type 38 | weak D type weakened D expression | Single missense mutation |
weak D type 39 | weak D type weakened D expression | Single missense mutation |
weak D type 40 | weak D type weakened D expression | Single missense mutation |
2004 | ||
Ccdes-1 | D negative | Complex changes |
DHQ | Partial D | Single missense mutation |
DVL-1 | Partial D | In frame deletion |
DWI | Partial D | Single missense mutation |
RHCE(1-3)-RHD(4-10) | D negative | hybrid allele |
RHD(147del A) | DEL | Short deletion |
RHD(343del C) | D negative | Short deletion |
RHD(449del T) | D negative | Short deletion |
RHD(786del A) | D negative | Short deletion |
RHD(L153P) | DEL | Single missense mutation |
RHD(Y269X) | D negative | Nonsense mutation |
RHD(Y401X) | D negative | Nonsense mutation |
RHD-RHCE(2-10) | D negative | hybrid allele |
weak D type 1.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 26 | weak D type weakened D expression | Single missense mutation |
weak D type 31 | weak D type weakened D expression | Single missense mutation |
weak D type 36 | weak D type weakened D expression | Single missense mutation |
weak D type 4.3 | weak D type DEL weakened D expression Partial D | Multiple missense mutations |
weak D type 41 | weak D type weakened D expression | Single missense mutation |
weak D type 44 | weak D type weakened D expression | Single missense mutation |
weak D type 45 | weak D type weakened D expression Partial D | Single missense mutation |
weak D type 46 | weak D type weakened D expression | Single missense mutation |
2005 | ||
DAU-5 | Partial D | Multiple missense mutations |
DAU-6 | Partial D | Multiple missense mutations |
DFL | Partial D | Single missense mutation |
DIII type 6 | Partial D D category | Multiple missense mutations |
DIII type 7 | Partial D D category | Complex changes |
DIT-1 | weakened D expression | Single missense mutation |
DNAK | Partial D | Single missense mutation |
DOL-2 | Partial D | Multiple missense mutations |
DOL-3 | Partial D | Multiple missense mutations |
DTO | weakened D expression Partial D | Multiple missense mutations |
DUC-1 | D positive (apparently normal) | Silent mutation |
DUC-2 | D positive (apparently normal) | Single missense mutation |
RHD(G96S) | weakened D expression | Single missense mutation |
RHD(IVS2-1G>A) | D negative | Splice site mutation |
RHD(IVS5-38del tctc) | DEL | Intron polymorphism |
RHD(S68T)-RHCe(3-9)-RHD | D negative | hybrid allele |
RHD(W185X) | D negative | Nonsense mutation |
RHD(W408R) | DEL | Single missense mutation |
RHD(X418L) | DEL | Loss of stop codon |
RHD(Y311X)[933A] | D negative | Nonsense mutation |
RHD-RHCE(4-8)-RHD | D negative | hybrid allele |
weak D type 25 | weak D type weakened D expression | Single missense mutation |
weak D type 32 | weak D type weakened D expression | Single missense mutation |
weak D type 42 | weak D type weakened D expression Partial D | Missense (splice site affected) |
weak D type 47 | weak D type weakened D expression | Single missense mutation |
weak D type 48 | weak D type weakened D expression | Single missense mutation |
weak D type 51 | weak D type weakened D expression | hybrid allele |
weak D type 52 | weak D type weakened D expression | Single missense mutation |
weak D type 53 | weak D type weakened D expression | Single missense mutation |
2006 | ||
DAR-E | Partial D weakened D expression | Multiple missense mutations |
DBO-2 | weakened D expression | Silent mutation |
DBO-3 | Single missense mutation | |
DNS | Partial D | Single missense mutation |
DVL-2 | Partial D weakened D expression | In frame deletion |
RHD(652delA 653T>G) | D negative | Substitution with frameshift |
RHD(A137E) | DEL | Single missense mutation |
RHD(L18P) | DEL | Single missense mutation |
RHD(L84P) | DEL | Single missense mutation |
RHD(M1I) | DEL | Loss of start codon |
weak D type 19 | weak D type weakened D expression | Single missense mutation |
weak D type 43 | weak D type weakened D expression | Single missense mutation |
weak D type 49 | weak D type weakened D expression | Single missense mutation |
weak D type 50 | weak D type weakened D expression | Single missense mutation |
weak D type 61 | weak D type weakened D expression DEL | Single missense mutation |
weak D type 62 | weak D type weakened D expression | Single missense mutation |
weak D type 68 | weak D type weakened D expression | Multiple missense mutations |
2007 | ||
DCC | Partial D | Single missense mutation |
DDE | Partial D | Single missense mutation |
DFR-3 | Partial D | Complex changes |
DFR-5 | Partial D | hybrid allele |
RHD(325delA) | D negative | Short deletion |
RHD(330delGT) | D negative | Short deletion |
RHD(D95G) | weakened D expression | Single missense mutation |
RHD(del Ex8) | DEL | large deletion |
RHD(IVS2+1G>A) | D negative | Splice site mutation |
RHD(IVS3+5G>A) | weakened D expression | Splice site mutation |
RHD(IVS8-8T>A) | weakened D expression | Splice site mutation |
weak D type 55 | weak D type weakened D expression | Single missense mutation |
weak D type 56 | weak D type weakened D expression | Single missense mutation |
weak D type 57 | weak D type weakened D expression Partial D | Single missense mutation |
weak D type 58 | weak D type weakened D expression | Single missense mutation |
weak D type 59 | weak D type weakened D expression | Single missense mutation |
weak D type 60 | weak D type weakened D expression | In frame deletion |
weak D type 63 | weak D type weakened D expression | Single missense mutation |
weak D type 64 | weak D type weakened D expression | Single missense mutation |
weak D type 66 | weak D type weakened D expression | Single missense mutation |
weak D type 72 | weak D type weakened D expression | Single missense mutation |
weak RHD(960G>A) | weakened D expression | Silent mutation |
2008 | ||
DBU | DEL Partial D | hybrid allele |
DCS-2 | Partial D | Single missense mutation |
DDN | Partial D | Single missense mutation |
DMI | Partial D | Single missense mutation |
RHD(660delG) | D negative | Short deletion |
RHD(712delG) | D negative | Short deletion |
RHD(745del13) | D negative | Short deletion |
RHD(93insT) | DEL D negative | Short insertion |
RHD(970delCAC,976delTCCATCATGGGCTACA) | D negative | Short deletion |
RHD(G212R) | DEL | Missense (splice site affected) |
RHD(IVS3+2T>A) | D negative | Splice site mutation |
RHD(M1V,T379M) | Complex changes | |
RHD(M1_S2insV,T379M) | Complex changes | |
RHD(R318X) | D negative | Nonsense mutation |
RHD(V56M,W90X) | D negative D negative | Nonsense mutation |
weak D type 4.2.3 (DAR1.3) | weak D type Partial D weakened D expression | Multiple missense mutations |
weak D type 65 | weak D type weakened D expression | Single missense mutation |
weak D type 67 | weak D type weakened D expression | Single missense mutation |
weak D type 69 | weak D type weakened D expression | Single missense mutation |
weak D type 70 | weak D type weakened D expression | Single missense mutation |
weak RHD(IVS3+3G>C) | weakened D expression | Splice site mutation |
weak RHD(IVS6-14delTAA) | weakened D expression | Intron polymorphism |
2009 | ||
Ccdes-2 | D negative | hybrid allele |
DAU-7 | Partial D | Single missense mutation |
DBS-2 | Partial D | hybrid allele |
DFR-4 | Partial D | hybrid allele |
DNT | Partial D | Single missense mutation |
RHD(615delCA) | D negative | Short deletion |
RHD(78delC) | D negative | Short deletion |
RHD(L370L) | weakened D expression | Silent mutation |
RHD(L81P) | weakened D expression Partial D | Single missense mutation |
RHD(M218I, F223V, S225F,Y269X) | D negative | Complex changes |
RHD(S112G) | weakened D expression | Missense (splice site affected) |
RHD-RHCE(10) | DEL | hybrid allele |
RHD-RHCE(4-9)-RHD | DEL | hybrid allele |
weak D type 2.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 71 | weak D type weakened D expression | Single missense mutation |
weak D type 73 | weak D type weakened D expression | Single missense mutation |
weak D type 74 | weak D type weakened D expression | Single missense mutation |
weak D type 78 | weakened D expression weak D type | Missense (splice site affected) |
weak RHD(IVS4+5G>A) | weakened D expression | Splice site mutation |
2010 | ||
DIII type 8 | Partial D D category | Multiple missense mutations |
DMI-1.1 | Partial D | Single missense mutation |
DUC-3 | D positive (apparently normal) | Single missense mutation |
RHD(1080del10) | D negative | Short deletion |
RHD(A237D) | Single missense mutation | |
RHD(G308X) | D negative | Nonsense mutation |
RHD(I60L,S68N,K198N,F223V,G314V,I342T) | weak D type weakened D expression | Multiple missense mutations |
RHD(IVS4+5G>T) | weakened D expression | Splice site mutation |
RHD(IVS4-2A>G) | weakened D expression | Splice site mutation |
RHD(L38X) | DEL | Nonsense mutation |
RHD(L390L) | weakened D expression | Silent mutation |
weak D type 100 | weak D type weakened D expression | Missense (splice site affected) |
weak D type 118 | weakened D expression weak D type | Single missense mutation |
weak D type 119 | weakened D expression weak D type | Single missense mutation |
weak D type 120 | weakened D expression weak D type | Single missense mutation |
weak D type 132 | weakened D expression weak D type | Single missense mutation |
weak D type 45.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 75 | weak D type weakened D expression | Single missense mutation |
weak D type 76 | weak D type weakened D expression | Single missense mutation |
weak D type 77 | weakened D expression weak D type | Single missense mutation |
weak D type 85 | weak D type weakened D expression | Single missense mutation |
2011 | ||
RHD(147A>G) | Silent mutation | |
DIT-2 | weakened D expression | Single missense mutation |
RHD(1269G>C) | weakened D expression | untranslated region |
RHD(26dupL) | weakened D expression | In frame insertion |
RHD(576C>T) | weakened D expression | Silent mutation |
RHD(A209V) | D positive (no further data) | Single missense mutation |
RHD(G180R) | D positive (no further data) | Single missense mutation |
RHD(G336D) | D negative | Single missense mutation |
RHD(I392T) | D positive (no further data) | Single missense mutation |
RHD(IVS2-2A>G) | DEL | Splice site mutation |
RHD(IVS7-2A>C) | Splice site mutation | |
RHD(L299P) | Single missense mutation | |
RHD(Q200X) | D negative | Nonsense mutation |
RHD(R71S) | D positive (no further data) | Single missense mutation |
RHD(Y34C) | weakened D expression | Single missense mutation |
weak D type 122 | weakened D expression weak D type | Single missense mutation |
weak D type 130 | weakened D expression weak D type | Single missense mutation |
weak D type 146 | weakened D expression weak D type | Single missense mutation |
weak D type 153 | weak D type weakened D expression | Single missense mutation |
weak D type 156 | D positive (no further data) | Single missense mutation |
2012 | ||
D186T | Single missense mutation | |
DIIIa150C | Multiple missense mutations | |
RHD(27del13) | Short deletion | |
RHD(29del14) | weakened D expression | Short deletion |
D-SPM | Partial D | Multiple missense mutations |
DAR(T203A) | Partial D | Multiple missense mutations |
DAU-10 | D positive (no further data) | Multiple missense mutations |
DAU-11 | weakened D expression | Multiple missense mutations |
DAU-12 | Multiple missense mutations | |
DAU-8 | D positive (no further data) | Multiple missense mutations |
DAU-9 | D positive (no further data) | Multiple missense mutations |
DIV type 1.0 | Partial D D category | Multiple missense mutations |
DLX | Partial D | Complex changes |
RHD(-10C>T) | weakened D expression | untranslated region |
RHD(216dupCA,1195G>A) | D negative | Complex changes |
RHD(356de11) | Short deletion | |
RHD(545delCTGT) | D negative | Short deletion |
RHD(950delA) | D negative | Short deletion |
RHD(D404H) | DEL | Single missense mutation |
RHD(F175L) | Partial D | Single missense mutation |
RHD(F179L) | D positive (no further data) | Single missense mutation |
RHD(F179S) | Single missense mutation | |
RHD(F223V,G278V) | D positive (no further data) | Multiple missense mutations |
RHD(G255R) | Single missense mutation | |
RHD(G353V) | Single missense mutation | |
RHD(G353W,A354N) | D positive (no further data) | hybrid allele |
RHD(H171D) | D positive (no further data) | Single missense mutation |
RHD(I60V,S103P,F161S,L214F) | Multiple missense mutations | |
RHD(IVS1-29G>C) | DEL | Intron polymorphism |
RHD(IVS4+1G>A) | Splice site mutation | |
RHD(IVS4+2T>A) | Splice site mutation | |
RHD(IVS5+1G>A) | D negative | Splice site mutation |
RHD(IVS5+2T>A) | Splice site mutation | |
RHD(IVS5-41delCTCT) | Intron polymorphism | |
RHD(IVS6-4A>C) | weakened D expression | Splice site mutation |
RHD(IVS7+2T>C) | D negative | Splice site mutation |
RHD(IVS8+6T>C) | weakened D expression | Splice site mutation |
RHD(IVS8-31C>T) | DEL | Intron polymorphism |
RHD(L228Q) | Single missense mutation | |
RHD(P291R) | DEL | Single missense mutation |
RHD(P313P) | Splice site mutation | |
RHD(S112I) | Single missense mutation | |
RHD(S112T) | DEL | Missense (splice site affected) |
RHD(S256X) | D negative | Nonsense mutation |
RHD(T148R) | D negative | Single missense mutation |
RHD(T201R,F223V,G307R) | D positive (no further data) | Multiple missense mutations |
RHD(V174M,V306I) | Multiple missense mutations | |
RHD(V238L,V270G) | D positive (no further data) | Multiple missense mutations |
RHD(V352I) | Single missense mutation | |
RHD(W16R) | DEL | Single missense mutation |
RHD(Y343X) | D negative | Nonsense mutation |
RHD-RHCE(2)-RHD(F355S) | Complex changes | |
RHD-RHCE(7)-RHD | Partial D D category | hybrid allele |
RHDex10del type 1 | weakened D expression DEL | large deletion |
RHDpsi-OT1 | Complex changes | |
weak D type 127 | weakened D expression weak D type | Single missense mutation |
weak D type 129 | weakened D expression weak D type | Single missense mutation |
weak D type 131 | weakened D expression weak D type | Single missense mutation |
weak D type 133 | weakened D expression weak D type | Single missense mutation |
weak D type 134 | weak D type | Single missense mutation |
weak D type 147 | weakened D expression weak D type | Single missense mutation |
weak D type 154 | weakened D expression weak D type | Single missense mutation |
weak D type 79 | weak D type weakened D expression | Single missense mutation |
weak D type 80 | weak D type weakened D expression | Single missense mutation |
weak D type 81 | weak D type weakened D expression | Single missense mutation |
weak D type 82 | weak D type weakened D expression | Single missense mutation |
weak D type 83 | weakened D expression | Single missense mutation |
weak D type 94 | weak D type weakened D expression | Single missense mutation |
2013 | ||
DAR(CE2:V50V-S68N) | Partial D | Complex changes |
DAU-13 | Multiple missense mutations | |
DFV.1 | weakened D expression | Single missense mutation |
DIV(S103P) | Multiple missense mutations | |
DIV-DOL | Multiple missense mutations | |
DWN | Partial D | hybrid allele |
RHD(1166delA) | Short deletion | |
RHD(297del23) | D negative | Short deletion |
RHD(519C>T) | weakened D expression | Silent mutation |
RHD(683del16) | Short deletion | |
RHD(D350H) | Single missense mutation | |
RHD(del44L) | Partial D | In frame deletion |
RHD(E340G) | Single missense mutation | |
RHD(IVS1+5G>C) | DEL | Splice site mutation |
RHD(IVS2-2delA) | DEL Partial D | Short deletion |
RHD(IVS6+2T>A) | D negative | Splice site mutation |
RHD(M218I, F223V, S225F) (obsolete) | weakened D expression | Multiple missense mutations |
RHD(T32N) | weakened D expression | Single missense mutation |
weak D type 148 | weakened D expression weak D type | Single missense mutation |
weak D type 149 | weakened D expression | Single missense mutation |
weak D type 45.2 | weak D type weakened D expression | Multiple missense mutations |
weak D type 84 | weak D type weakened D expression | Single missense mutation |
weak D type 95 | weak D type weakened D expression | Single missense mutation |
weak D type 96 | weak D type weakened D expression | Single missense mutation |
weak D type 97 | weak D type weakened D expression | Single missense mutation |
weak D type 98 | weak D type weakened D expression | Single missense mutation |
weak D type 99 | weak D type weakened D expression | Single missense mutation |
2014 | ||
DAU-14 | D positive (no further data) | Multiple missense mutations |
DAU-5.1 | weakened D expression | Multiple missense mutations |
DEL RHD(A280T) | DEL | Single missense mutation |
RHD(1026insAC) | Short insertion | |
RHD(1065C>T) | weakened D expression | Silent mutation |
RHD(1209delT) | Short deletion | |
RHD(1228-2del21) | D negative | Short deletion |
RHD(1248insG) | DEL | Short insertion |
RHD(361del11) | D negative | Short deletion |
RHD(520G>A,1080_1989del) | D negative | Complex changes |
RHD(822delG) | D negative | Short deletion |
RHD(915delC) | D negative | Short deletion |
RHD(993delC) | Short deletion | |
RHD(A354T) | Partial D | Single missense mutation |
RHD(F31L) | DEL | Single missense mutation |
RHD(G368R) | Single missense mutation | |
RHD(G385D) | D negative | Missense (splice site affected) |
RHD(IVS1+1G>T) | DEL | Splice site mutation |
RHD(IVS4-2A>C) | Partial D | Splice site mutation |
RHD(IVS6+1G>A) | D negative | Splice site mutation |
RHD(IVS9-1G>A) | Splice site mutation | |
RHD(K133N) | weakened D expression | Single missense mutation |
RHD(L110P)-CE(3-9)-D | Complex changes | |
RHD(L337R) | D negative DEL | Single missense mutation |
RHD(L386X) | D negative | Single missense mutation |
RHD(L93R) | DEL | Single missense mutation |
RHD(N135D) | Single missense mutation | |
RHD(N152T,V270G) | Multiple missense mutations | |
RHD(N240H) | Single missense mutation | |
RHD(Q89R) | Single missense mutation | |
RHD(W393X) | Nonsense mutation | |
RHD(X418S) | Loss of stop codon | |
RHD(Y311C) | Single missense mutation | |
weak D type 1.2 | weak D type weakened D expression | Multiple missense mutations |
weak D type 2.2 | weak D type weakened D expression | Multiple missense mutations |
weak D type 3.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 86 | weak D type weakened D expression | Single missense mutation |
weak D type 87 | weak D type weakened D expression | Single missense mutation |
weak D type 88 | weak D type weakened D expression | Single missense mutation |
weak D type 89 | weak D type weakened D expression | Multiple missense mutations |
weak D type 90 | weak D type weakened D expression | Single missense mutation |
weak D type 91 | weak D type weakened D expression | Single missense mutation |
weak D type 92 | weak D type weakened D expression | Single missense mutation |
2015 | ||
DEL RHD(X418K) | DEL | Loss of stop codon |
RHD(1026C>T) | D negative | Silent mutation |
RHD(510insG) | Short insertion | |
RHD(A176T) | Single missense mutation | |
RHD(D53Y) | weakened D expression | Single missense mutation |
RHD(F161C) | weakened D expression | Single missense mutation |
RHD(G368W,D404E) | Multiple missense mutations | |
RHD(G96D) | weakened D expression | Single missense mutation |
RHD(M1T) | Loss of start codon | |
RHD(P313T) | weakened D expression | Single missense mutation |
RHD(Q405X) | D negative | Nonsense mutation |
RHD(R10L) | Single missense mutation | |
RHD(S254X) | D negative | Nonsense mutation |
RHD(W185X) [c,555G>A] | D negative | Nonsense mutation |
RHD-cE(5-6)-D | hybrid allele | |
weak D type 10.2 | weakened D expression weak D type | Multiple missense mutations |
weak D type 101 | weakened D expression weak D type | Single missense mutation |
weak D type 103 | weakened D expression weak D type | Single missense mutation |
weak D type 105 | weak D type weakened D expression | Single missense mutation |
weak D type 106 | weak D type weakened D expression | Single missense mutation |
weak D type 107 | weakened D expression weak D type | Single missense mutation |
weak D type 109 | weakened D expression weak D type | Single missense mutation |
weak D type 110 | weakened D expression weak D type | Single missense mutation |
weak D type 111 | weakened D expression weak D type | Single missense mutation |
weak D type 112 | weakened D expression weak D type | Single missense mutation |
weak D type 113 | weak D type weakened D expression | Single missense mutation |
weak D type 114 | weakened D expression weak D type | Single missense mutation |
weak D type 115 | weakened D expression weak D type | Single missense mutation |
weak D type 116 | weakened D expression weak D type | Single missense mutation |
weak D type 117 | weakened D expression weak D type | Single missense mutation |
weak D type 121 | weakened D expression weak D type | Single missense mutation |
weak D type 123 | weakened D expression weakened D expression | Single missense mutation |
weak D type 124 | weakened D expression weak D type | Single missense mutation |
weak D type 125 | weakened D expression weak D type | Single missense mutation |
weak D type 126 | weak D type weakened D expression | Single missense mutation |
weak D type 128 | weakened D expression weak D type | Single missense mutation |
weak D type 141 | Partial D weakened D expression weak D type | Single missense mutation |
weak D type 143 | weakened D expression weak D type | Single missense mutation |
2016 | ||
RHD(396insGG) | Short insertion | |
RHD(53dekT) | Single missense mutation | |
RHD(79delCTC) | In frame deletion | |
RHD(A137V,N152T)-CE(4-6)-D(7-10) | hybrid allele | |
RHD(D35E,A399T) | weakened D expression | Multiple missense mutations |
RHD(D40G) | Single missense mutation | |
RHD(G263R,A399T) | Multiple missense mutations | |
RHD(G307R) | Single missense mutation | |
RHD(G385V) | Single missense mutation | |
RHD(G96R) | Single missense mutation | |
RHD(H166D) | Single missense mutation | |
RHD(H72P,S73C) | Multiple missense mutations | |
RHD(I341N) | weakened D expression | Single missense mutation |
RHD(I60L) | Single missense mutation | |
RHD(IVS7+1G>A) | Splice site mutation | |
RHD(K189N,S257F) | Multiple missense mutations | |
RHD(K267M) | Single missense mutation | |
RHD(L297P) | Single missense mutation | |
RHD(P221R) | Single missense mutation | |
RHD(P231L) | Single missense mutation | |
RHD(S230I) | Single missense mutation | |
RHD(S230N) | Single missense mutation | |
RHD(S266G,V270G) | Single missense mutation | |
RHD(T201R,F223V,K264N,A273A) | Multiple missense mutations | |
RHD(V147M,A399T) | Multiple missense mutations | |
RHD(V281L) | Single missense mutation | |
RHD(V306I,Y311C) | hybrid allele | |
RHD(V50D) | Single missense mutation | |
RHD(Y48C) | weakened D expression | Single missense mutation |
RHD-RHCE(5:733-5:787)-RHD | Single missense mutation | |
RHD-RHcE[226P](5:676-5:733)-RHD | hybrid allele | |
weak D type 10.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 102 | weakened D expression weak D type | Single missense mutation |
weak D type 132.0.1 | weak D type | Single missense mutation |
weak D type 135 | weak D type weakened D expression | Single missense mutation |
weak D type 136 | weak D type | Single missense mutation |
weak D type 137 | weak D type | Single missense mutation |
weak D type 138 | weak D type | Single missense mutation |
weak D type 139 | weak D type | Single missense mutation |
weak D type 140 | weakened D expression weak D type | Single missense mutation |
weak D type 142 | weakened D expression weak D type | Single missense mutation |
weak D type 144 | weakened D expression weak D type | Single missense mutation |
weak D type 155 | weakened D expression weak D type | Single missense mutation |
weak D type 4.4 | weak D type | Multiple missense mutations |
weak D type 4.5 | weak D type | Multiple missense mutations |
weak D type 41.0.1 | weak D type weakened D expression | Multiple missense mutations |
weak D type 93 | weak D type weakened D expression | Single missense mutation |
2017 | ||
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D | hybrid allele | |
DKG | DEL Partial D | large deletion |
RHD delEx3 type 1 | large deletion | |
RHD(1056C>G) | weakened D expression | Splice site mutation |
RHD(1067insA) | Short insertion | |
RHD(208delinsTG) | D negative | Short insertion |
RHD(255G>A, 1227G>A,) | Single missense mutation | |
RHD(702delG) | D negative | Short deletion |
RHD(843G>T) | Silent mutation | |
RHD(9393A>C) | Splice site mutation | |
RHD(939G>C) | Splice site mutation | |
RHD(F223V,K267M) | Multiple missense mutations | |
RHD(G151D) | Single missense mutation | |
RHD(G263L,T379M) | Multiple missense mutations | |
RHD(G308R) | Single missense mutation | |
RHD(G381R) | Single missense mutation | |
RHD(K235N) | Single missense mutation | |
RHD(L20P) | Single missense mutation | |
RHD(L258S) | Single missense mutation | |
RHD(M118K,V174M) | Partial D | Multiple missense mutations |
RHD(M155V) | Single missense mutation | |
RHD(P261A) | weakened D expression | Single missense mutation |
RHD(R114Q,A399T) | Single missense mutation | |
RHD(S254L,T379M) | Multiple missense mutations | |
RHD(T148R,T195M) | Multiple missense mutations | |
RHD(T201R,V270G) | Multiple missense mutations | |
RHD(V174M,G307R) | Multiple missense mutations | |
RHD(V245L,G263R,K267M) | Multiple missense mutations | |
RHD(V247L) | Single missense mutation | |
RHD(V319G) | Single missense mutation | |
RHD(Y243X) | Nonsense mutation | |
RHD*5'UTR-115C | untranslated region | |
RHD-ceAG.05(2)-D | hybrid allele | |
RHD-RHCE[245V](5)-RHD | hybrid allele | |
RHDex10del type 2 | D negative | large deletion |
RHDex1del type 1 | DEL | large deletion |
2018 | ||
RHCE(5:697-5:744)-RHD | Partial D weakened D expression | hybrid allele |
RHD(L214F)-CE(7)-D | weakened D expression Partial D | Single missense mutation |
RHD(T201R)-CE(5)-D(I342T) | weakened D expression Partial D | Complex changes |
weak D type 150 | weakened D expression weak D type | large duplication |
weak D type 151 | weak D type | Single missense mutation |
weak D type 152 | weak D type weakened D expression | Single missense mutation |
2019 | ||
RHD(E369K) | Single missense mutation | |
RHD(IVS9+5G>C) | weakened D expression | Splice site mutation |
RHD(K394T) | weakened D expression | Single missense mutation |
RHD(L378P) | Single missense mutation | |
2020 |