Designation | ISBT name | Haplotype | Phenotype | Mechanism | Alterations | First mention | Definitive publication |
D674 | not reported | Single missense mutation | 674C>T (S225F) | 2002 | 2002 | ||
DBA | RHD*56 RHD*DBA | not reported | weakened D expression | Single missense mutation | 680T>C (L227P) | 2003 | 2004 |
DBO-2 | not reported | weakened D expression | Silent mutation | 357T>C | 2006 | ||
DBO-3 | not reported | Single missense mutation | 968C>A (P323H) | 2006 | |||
DBS-0 | RHD*05.03 RHD*DV.3 | CDe | Partial D | hybrid allele | Hybrid RHcE[226P](5:667-5:712) | 1996 | 1996 |
DBS-1 | RHD*13.01 RHD*DBS1 | cDE | Partial D | hybrid allele | Hybrid RHcE[226P](5:667-5:800) | 2001 | 2001 |
DBS-2 | RHD*13.02 RHD*DBS2 RHD*16.03 | cDE | Partial D | hybrid allele | Hybrid RHcE[226P](5:667-5:697) | 2009 | 2012 |
DBT-1 | RHD*14.01 RHD*DBT1 | CDe | Partial D | hybrid allele | Hybrid RHCE(5-7) | 1996 | 1996 |
DBT-2 | RHD*14.02 RHD*DBT2 | CDe | Partial D | hybrid allele | Hybrid RHCE(5-9) | 1999 | 1999 |
DBU | RHD*41 RHD*DBU RHD*01EL.23 | cDE | DEL Partial D | hybrid allele | Hybrid RHcE[226P](5-7) | 2008 | 2009 |
DCC | RHD*42 RHD*DCC | CDe | Partial D | Single missense mutation | 677C>A (A226D) | 2007 | 2012 |
DCS-1 | RHD*16.01 RHD*DCS1 | cDE | Partial D | hybrid allele | 667T>G (F223V) 676G>C (A226P) | 1999 | 2008 |
DCS-2 | RHD*16.02 RHD*DCS2 | cDE | Partial D | Single missense mutation | 676G>C (A226P) | 2008 | 2008 |
DDE | RHD*27 RHD*DDE | not reported | Partial D | Single missense mutation | 120T>A (D40E) | 2007 | |
DDN | RHD*43 RHD*DDN | not reported | Partial D | Single missense mutation | 490G>A (D164N) | 2008 | |
DEL RHD(A280T) | RHD*01EL.24 RHD*DEL24 | not reported | DEL | Single missense mutation | 838G>A (A280T) | 2014 | 2014 |
DEL RHD(X418K) | RHD*01EL.25 RHD*DEL25 | CDe | DEL | Loss of stop codon | 1252T>A (X418K) | 2015 | 2015 |
DFL | RHD*28 RHD*DFL | CDe | Partial D | Single missense mutation | 494A>G (Y165C) | 2005 | 2007 |
DFR-1 | RHD*17.01 RHD*DFR1 | multiple | Partial D | hybrid allele | Hybrid RHCE(4:505-4:514) | 1995 | 1995 |
DFR-2 | RHD*17.02 RHD*DFR2 | CDe | Partial D | hybrid allele | Hybrid RHCE(4) | 1997 | 1997 |
DFR-3 | RHD*17.03 RHD*DFR3 | CDe | Partial D | Complex changes | 539G>C (G180A) Hybrid RHCE(4:505-4:514) | 2007 | 2007 |
DFR-4 | RHD*17.04 RHD*DFR4 | CDe | Partial D | hybrid allele | Hybrid RHCE(4:505-4:509) | 2009 | 2012 |
DFR-5 | RHD*17.05 RHD*DFR5 | not reported | Partial D | hybrid allele | Hybrid RHCE(3-4) | 2007 | |
DFW | RHD*18 RHD*DFW | CDe | Partial D | Single missense mutation | 497A>C (H166P) | 1998 | 2009 |
DHAR | cde | Partial D | hybrid allele | Hybrid RHCE(1-4) Hybrid RHCE(6-10) | 1996 | 1996 | |
DHK | RHD*05.05 RHD*DV.5 | CDe | Partial D | Single missense mutation | 697G>A (E233K) | 1998 | 1999 |
DHMi | RHD*19 RHD*DHMi | cDE | Partial D | Single missense mutation | 848C>T (T283I) | 1996 | |
DHMii | cDE | Partial D | hybrid allele | 1996 | |||
DHO | RHD*20 RHD*DHO | CDe | Partial D weakened D expression | Single missense mutation | 704A>C (K235T) | 2001 | 2001 |
DHQ | RHD*44 RHD*DHQ | not reported | Partial D | Single missense mutation | 513C>A (H171Q) | 2004 | |
DHR | RHD*22 RHD*DHR | not reported | Partial D | Single missense mutation | 686G>A (R229K) | 1997 | 1997 |
DII | RHD*02 RHD*DII | CDe | Partial D D category | Single missense mutation | 1061C>A (A354D) | 1997 | 1997 |
DIII type 4.2 | RHD*03.04.02 RHD*DII.04.02 | not reported | hybrid allele | 186G>T (L62F) 307T>C (S103P) 410C>T (A137V) 455A>C (N152T) | |||
DIIIc | RHD*03.03 RHD*DIIIc | CDe | Partial D D category | hybrid allele | Hybrid RHCE(3) | 1996 | 1996 |
DIM | RHD*34 RHD*DIM | cDE | Partial D weakened D expression | Single missense mutation | 854G>A (C285Y) | 2000 | 2000 |
DIT-1 | CDe | weakened D expression | Single missense mutation | 863T>C (I288T) | 2005 | ||
DIT-2 | CDe | weakened D expression | Single missense mutation | 862A>T (I288F) | 2011 | ||
DIV type 3 | RHD*04.03 RHD* DIV.3 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(6-9) | 1999 | 1999 |
DIV type 4 | RHD*04.04 RHD*DIV.4 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(7:1048-7:1061) | 1998 | |
DIV type 5 | RHD*04.05 RHD*DIV.5 | cDE | Partial D D category | hybrid allele | Hybrid RHCE(7-9) | 2000 | 2000 |
DIVb type 2 | RHD*04.06 RHD* DIVb | CDe | Partial D | hybrid allele | Hybrid RHCE(7:1048-9) | 1995 | 1995 |
DKG | not reported | DEL Partial D | large deletion | 25321477_25322488del | 2017 | 2017 | |
DKK | RHD*45 RHD*DKK | cDE | Partial D | hybrid allele | Hybrid RHCE(2-3) | 2000 | 2001 |
DLO | RHD*36 RHD*DLO | not reported | weakened D expression Partial D | Single missense mutation | 851C>T (S284L) | 2003 | 2004 |
DLX | RHD*46 RHD*DLX | cDE | Partial D | Complex changes | 667T>G (F223V) Hybrid RHCE(5:712-6) | 2012 | 2012 |
DMA | RHD*35 RHD*DMA | cDe | Single missense mutation | 621G>C (L207F) | 2003 | 2003 | |
DMH | RHD*23 RHD*DMH | cDe | Partial D | Missense (splice site affected) | 161T>C (L54P) | 1999 | |
DMI | RHD*47 RHD*DMI | CDe | Partial D | Single missense mutation | 510G>A (M170I) | 2008 | 2009 |
DMI-1.1 | RHD*47.01 RHD*DMI-1.1 | CDe | Partial D | Single missense mutation | 510G>T (M170I) | 2010 | |
DNAK | RHD*24 RHD*DNAK | cDE | Partial D | Single missense mutation | 1070G>A (G357D) | 2005 | |
DNB | RHD*25 RHD*DNB | CDe | Partial D | Single missense mutation | 1063G>A (G355S) | 2002 | 2002 |
DNS | RHD*48 RHD*DNS | not reported | Partial D | Single missense mutation | 485A>G (N162S) | 2006 | |
DNT | CDe | Partial D | Single missense mutation | 455A>C (N152T) | 2009 | 2013 | |
DNU | RHD*26 RHD*DNU | cDE | Partial D | Single missense mutation | 1057G>A (G353R) | 1997 | 1997 |
DUC-1 | not reported | D positive (apparently normal) | Silent mutation | 636C>T | 2005 | 2005 | |
DUC-2 | RHD*37 RHD*DUC2 | not reported | D positive (apparently normal) | Single missense mutation | 733G>C (V245L) | 2005 | 2005 |
DUC-3 | RHD*01.01 | CDe | D positive (apparently normal) | Single missense mutation | 48G>C (W16C) | 2010 | |
DV type 1 | RHD*05.01 RHD*DV.1 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(5:667-5:697) | 1995 | 1995 |
DV type 10 | RHD*05.10 RHD*DV.10 | not reported | Partial D | hybrid allele | Hybrid RHCE(5-6) | ||
DV type 2 | RHD*05.02 RHD*DV.2 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(5) | 1995 | 1995 |
DV type 4 | RHD*05.04 RHD*DV.4 | CDe | Partial D D category | Single missense mutation | 697G>C (E233Q) | 1998 | 1999 |
DV type 6 | RHD*05.06 RHD*DV.6 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(5:667-5:712) | 1998 | 1999 |
DV type 7 | RHD*05.07 RHD*DV.7 | CDe | D category Partial D | hybrid allele | Hybrid RHCE(5:667-5:787) | 2001 | 2001 |
DV type 8 | RHD*05.08 RHD*DV.8 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(5:667-5:744) | 1998 | 1999 |
DV type 9 | RHD*05.09 RHD*DV.9 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(5:697-5:712) | 1999 | 2000 |
DVI type 1 | RHD*06.01 RHD*DVI.1 | cDE | D category Partial D | hybrid allele | Hybrid RHcE[226P](4-5) | 1997 | 1997 |
DVI type 2 | RHD*06.02 RHD*DVI.2 | CDe | Partial D D category BARC positive | hybrid allele | Hybrid RHCE(4-6) | 1994 | 1994 |
DVI type 3 | RHD*06.03 RHD*DVI.3 | CDe | Partial D D category BARC positive | hybrid allele | Hybrid RHCE(3-6) | 1998 | 1998 |
DVI type 3.2 | RHD*06.03.02 RHD*DVI.03.02 | not reported | Partial D | hybrid allele | 1195G>A (A399T) Hybrid RHCE(3-6) | ||
DVI type 4 | RHD*06.04 RHD*DVI.4 | CDe | Partial D D category | hybrid allele | Hybrid RHCE(3-5) | 2000 | 2006 |
DVII | RHD*07.01 RHD*DVII.1 | CDe | Partial D D category | Single missense mutation | 329T>C (L110P) | 1995 | 1995 |
DVII type 2 | RHD*07.02 RHD*DVII.2 | CDe | Partial D | Multiple missense mutations | 307T>C (S103P) 329T>C (L110P) | 2001 | 2001 |
DVL-1 | RHD*31 RHD*DVL1 | not reported | Partial D | In frame deletion | 684delGAG (229delR) | 2004 | 2006 |
DVL-2 | RHD*32 RHD*DVL2 | not reported | Partial D weakened D expression | In frame deletion | 705delGAA (235delK) | 2006 | 2006 |
DWI | RHD*33 RHD*DWI | CDe | Partial D | Single missense mutation | 1073T>C (M358T) | 2004 | 2004 |
DWN | RHD*49 RHD*DWN | cDe | Partial D | hybrid allele | Hybrid RHCE(7:1053-7:1061) | 2013 | 2013 |
DYU | RHD*29 RHD*DYU | cDe | Partial D | Single missense mutation | 700A>T (R234W) | 2003 | 2005 |
RHCE(1-3)-RHD(4-10) | RHD*01N.43 | cDE | D negative | hybrid allele | Hybrid RHCE(1-3) | 2004 | 2009 |
RHCE(1-9)-RHD | RHD*01N.02 | cDE | D negative | hybrid allele | Hybrid RHCE(1-9) | 2001 | 2001 |
RHCE(5:697-5:744)-RHD | not reported | Partial D weakened D expression | hybrid allele | Hybrid RHCE(5:697-5:744) | 2018 | 2018 | |
RHCE-D(3[361del11]-10) | not reported | D negative | Complex changes | 361delTTGTCGGTGCT Hybrid RHCE(1-2) | |||
RHD delEx3 type 1 | not reported | large deletion | 335+649del10625 | 2017 | |||
RHD(-10C>T) | CDe | weakened D expression | untranslated region | -10C>T | 2012 | ||
RHD(-115A>C) | not reported | weakened D expression | Promoter mutation | -115A>C | |||
RHD(1026C>T) | not reported | D negative | Silent mutation | 1026C>T (I342I) | 2015 | 2015 | |
RHD(1026insAC) | not reported | Short insertion | 1026insAC | 2014 | |||
RHD(1056C>G) | not reported | weakened D expression | Splice site mutation | 1056C>G (V352V) | 2017 | ||
RHD(1065C>T) | CDe | weakened D expression | Silent mutation | 1065C>T | 2014 | 2014 | |
RHD(1067insA) | not reported | Short insertion | 1067insA | 2017 | |||
RHD(1080del10) | RHD*01N.36 | not reported | D negative | Short deletion | 1080del10 | 2010 | |
RHD(1166delA) | not reported | Short deletion | 1166delA | 2013 | |||
RHD(1174delA) | RHD*01N.66 | not reported | Short deletion | 1174delA | |||
RHD(1209delT) | not reported | Short deletion | 1209delT | 2014 | |||
RHD(1227G>A) | RHD*01EL.01 RHD*DEL1 | CDe | DEL | Splice site mutation | 1227G>A | 2001 | 2001 |
RHD(1228-2del21) | RHD*01N.44 | not reported | D negative | Short deletion | IVS9-2del21 | 2014 | |
RHD(1248insG) | RHD*01EL.26 RHD*DEL26 | CDe | DEL | Short insertion | 1248insG | 2014 | 2014 |
RHD(124delAA) | RHD*01N.65 | not reported | Short deletion | 124delAA | |||
RHD(1269G>C) | CDe | weakened D expression | untranslated region | 1269G>C | 2011 | 2012 | |
RHD(1347A>G) | cDe | untranslated region | 1347A>G | 2003 | 2003 | ||
RHD(142delM) | RHD*01N.74 RHD*424_426delATG | not reported | D negative | In frame deletion | 424delATG (142delM) | ||
RHD(147A>G) | not reported | Silent mutation | 147A>G (Q49Q) | 2011 | 2012 | ||
RHD(147del A) | RHD*01EL.04 RHD*DEL4 | CDe | DEL | Short deletion | 147del A IVS1+6del A | 2004 | 2009 |
RHD(IVS1+1G>T) | RHD*01EL.31 RHD*DEL31 | cDE | DEL | Splice site mutation | IVS1+1G>T | 2014 | 2014 |
DAU-0.2 | RHD*10.00.02 RHD*DAU0.02 | not reported | Complex changes | 1136C>T (T379M) 150T>C | |||
RHD(165C>T) | not reported | D positive (apparently normal) weakened D expression | Silent mutation | 165C>T | |||
RHD(208delinsTG) | not reported | D negative | Short insertion | 208delinsTG | 2017 | ||
RHD(216dupCA,1195G>A) | RHD*01N.45 | CDe | D negative | Complex changes | 1195G>A (A399T) 216dupCA | 2012 | |
RHD(255G>A, 1227G>A,) | not reported | Single missense mutation | 1227G>A 255G>A (A85A) | 2017 | |||
RHD(26dupL) | not reported | weakened D expression | In frame insertion | 75dupTCT (26insL) | 2011 | 2011 | |
RHD(27del13) | not reported | Short deletion | 27del13 | 2012 | |||
RHD(297del23) | RHD*01N.37 | not reported | D negative | Short deletion | 297del23 | 2013 | |
RHD(29del14) | not reported | weakened D expression | Short deletion | 29dellGGCGCTGCCTGCCC | 2012 | 2012 | |
RHD(325delA) | RHD*01N.11 | CDe | D negative | Short deletion | 325del A | 2007 | 2007 |
weak D type 150 | CDe | weakened D expression weak D type | large duplication | 327_487-4164dup | 2018 | 2018 | |
RHD(330delGT) | RHD*01N.35 | not reported | D negative | Short deletion | 330delGT | 2007 | 2007 |
RHD(343del C) | RHD*01N.23 | CDe | D negative | Short deletion | 343del C | 2004 | 2009 |
RHD(356de11) | not reported | Short deletion | 356del11 | 2012 | |||
RHD(361del11) | RHD*01N.41 | CDe | D negative | Short deletion | 361delTTGTCGGTGCT | 2014 | 2014 |
RHD(384T>C) | not reported | Silent mutation | 384T>C | ||||
RHD(396insGG) | not reported | Short insertion | 396insGG | 2016 | |||
RHD(449del T) | RHD*01N.12 | CDe | D negative | Short deletion | 449del T | 2004 | |
RHD(489delAGAC) | RHD*01N.13 | CDe | D negative | Short deletion | 487del ACAG | 1998 | 1998 |
RHD(510insG) | not reported | Short insertion | 510insG | 2015 | |||
RHD(519C>T) | CDe | weakened D expression | Silent mutation | 519C>T | 2013 | ||
RHD(520G>A,1080_1989del) | CDe | D negative | Complex changes | 1080del10 520G>A (V174M) | 2014 | 2014 | |
RHD(53dekT) | not reported | Single missense mutation | 53dekT | 2016 | |||
RHD(545delCTGT) | RHD*01N.46 | cDe | D negative | Short deletion | 545delCTGT | 2012 | 2012 |
RHD(576C>T) | CDe | weakened D expression | Silent mutation | 576C>T | 2011 | ||
RHD(581insG) | RHD*01N.75 RHD*581_582insG | not reported | Short insertion | 581insG | |||
RHD(60L,S230I) | RHD*60 | not reported | Single missense mutation | 178A>C (I60L) 689G>T (S230I) | |||
RHD(615delCA) | RHD*01N.34 | CDe | D negative | Short deletion | 615delCA | 2009 | 2012 |
RHD(652delA 653T>G) | RHD*01N.17 | not reported | D negative | Substitution with frameshift | 652delA 653T>G | 2006 | |
RHD(660delG) | RHD*01N.29 RHD*660delG RHD*01N.78 | CDe | D negative | Short deletion | 660delG | 2008 | 2009 |
RHD(683del16) | not reported | Short deletion | 683del16 | 2013 | |||
RHD(697delG) | RHD*01N.82 RHD*697delG | not reported | D negative | Short deletion | 697delG | ||
RHD(702delG) | RHD*01N.83 RHD*702delG | not reported | D negative | Short deletion | 702delG | 2017 | |
RHD(711del C) | RHD*01N.16 | cDE | D negative | Short deletion | 711del C | 2002 | 2002 |
RHD(712delG) | RHD*01N.33 | CDe | D negative | Short deletion | 712delG | 2008 | 2009 |
RHD(745del13) | RHD*01N.47 | CDe | D negative | Short deletion | 745delGTGGTGACAGCCA 758TC>AG | 2008 | |
RHD(786del A) | RHD*01EL.13 RHD*DEL13 | CDe | D negative | Short deletion | 786del A | 2004 | 2009 |
RHD(78delC) | RHD*01N.32 | CDe | D negative | Short deletion | 78delC | 2009 | 2010 |
RHD(79delCTC) | not reported | In frame deletion | 79delCTC | 2016 | |||
RHD(822delG) | RHD*01N.48 | not reported | D negative | Short deletion | 822delG | 2014 | |
RHD(843G>T) | not reported | Silent mutation | 843G>T | 2017 | |||
RHD(909ins TGGCT, IVS6+2del TAAG) | RHD*01N.27 | CDe | D negative | Complex changes | 909ins TGGCT IVS6+2del TAAG | 2002 | 2002 |
RHD(915delC) | RHD*01N.49 | not reported | D negative | Short deletion | 915delC | 2014 | 2014 |
RHD(9393A>C) | not reported | Splice site mutation | IVS6+3A>C | 2017 | |||
RHD(939G>C) | not reported | Splice site mutation | 939G>C | 2017 | |||
RHD(93insT) | RHD*01EL.18 RHD*DEL18 RHD*01N.50 | CDe | DEL D negative | Short insertion | 93insT | 2008 | 2008 |
RHD(950delA) | RHD*01N.51 | not reported | D negative | Short deletion | 950delA | 2012 | |
RHD(970delCAC,976delTCCATCATGGGCTACA) | RHD*01N.28 | CDe | D negative | Short deletion | 970delCAC 976delTCCATCATGGGCTACA | 2008 | 2009 |
RHD(993delC) | RHD*01EL.28 RHD*DEL28 | not reported | Short deletion | 993delC | 2014 | ||
weak D type 116 | RHD* 01W.116 RHD*weak D type 116 | not reported | weakened D expression weak D type | Single missense mutation | 346G>C (A116P) | 2015 | 2015 |
weak D type 117 | RHD* 01W.117 RHD*weak D type 117 | not reported | weakened D expression weak D type | Single missense mutation | 346G>A (A116T) | 2015 | |
weak D type 118 | RHD* 01W.118 RHD*weak D type 118 | not reported | weakened D expression weak D type | Single missense mutation | 347C>T (A116V) | 2010 | |
RHD(A137E) | RHD*01EL.07 RHD*DEL7 | CDe | DEL | Single missense mutation | 410C>A (A137E) | 2006 | 2009 |
RHD(A176T) | not reported | Single missense mutation | 526G>A (A176T) | 2015 | 2015 | ||
RHD(A209V) | not reported | D positive (no further data) | Single missense mutation | 626C>T (A209V) | 2011 | 2012 | |
RHD(A237D) | not reported | Single missense mutation | 710C>A (A237D) | 2010 | |||
weak D type 155 | not reported | weakened D expression weak D type | Single missense mutation | 710C>T (A237V) | 2016 | 2018 | |
weak D type 89 | RHD* 01W.89 RHD*weak D type 89 | CDe | weak D type weakened D expression | Multiple missense mutations | 67G>C (A23P) | 2014 | 2014 |
weak D type 142 | RHD* 01W.142 RHD*weak D type 142 | CDe | weakened D expression weak D type | Single missense mutation | 67G>T (A23S) | 2016 | |
weak D type 95 | RHD* 01W.95 RHD*weak D type 95 | cDE | weak D type weakened D expression | Single missense mutation | 730G>C (A244P) | 2013 | 2013 |
weak D type 96 | RHD* 01W.96 RHD*weak D type 96 | cDe | weak D type weakened D expression | Single missense mutation | 731C>T (A244V) | 2013 | 2013 |
weak D type 120 | RHD* 01W.120 RHD*weak D type 120 | CDe | weakened D expression weak D type | Single missense mutation | 818C>A (A273E) | 2010 | |
weak D type 119 | RHD* 01W.119 RHD*weak D type 119 | CDe | weakened D expression weak D type | Single missense mutation | 818C>T (A273V) | 2010 | |
RHD(A354T) | RHD*50 | CDe | Partial D | Single missense mutation | 1060G>A (A354T) | 2014 | 2014 |
weak D type 82 | RHD* 01W.82 RHD*weak D type 82 | CDe | weak D type weakened D expression | Single missense mutation | 1184C>T (A395V) | 2012 | |
weak D type 143 | RHD* 01W.143 RHD*weak D type 143 | CDe | weakened D expression weak D type | Single missense mutation | 173C>T (A58V) | 2015 | |
weak D type 121 | RHD* 01W.121 RHD*weak D type 121 | not reported | weakened D expression weak D type | Single missense mutation | 176C>A (A59D) | 2015 | |
weak D type 151 | not reported | weak D type | Single missense mutation | 175G>A (A59T) | 2018 | 2018 | |
weak D type 131 | RHD* 01W.131 RHD*weak D type 131 | CDe | weakened D expression weak D type | Single missense mutation | 254C>G (A85G) | 2012 | 2012 |
RHD(D164E) | RHD*61 | not reported | Partial D | Single missense mutation | 492C>A (D164E) | ||
RHD(D350H) | not reported | Single missense mutation | 1048G>C (D350H) | 2013 | |||
RHD(D35E,A399T) | not reported | weakened D expression | Multiple missense mutations | 105C>G (D35E) 1195G>A (A399T) | 2016 | 2016 | |
weak D type 129 | RHD* 01W.129 RHD*weak D type 129 | CDe | weakened D expression weak D type | Single missense mutation | 1208A>T (D403V) | 2012 | 2012 |
weak D type 128 | RHD* 01W.128 RHD*weak D type 128 | not reported | weakened D expression weak D type | Single missense mutation | 1207G>T (D403Y) | 2015 | |
RHD(D404H) | RHD*01EL.29 RHD*DEL29 | cDE | DEL | Single missense mutation | 1210G>C (D404H) | 2012 | |
RHD(D40G) | not reported | Single missense mutation | 119A>G (D40G) | 2016 | |||
RHD(D53Y) | RHD* 01W.104 RHD*weak D type 104 | not reported | weakened D expression | Single missense mutation | 157G>T (D53Y) | 2015 | |
RHD(D95G) | not reported | weakened D expression | Single missense mutation | 284A>G (D95G) | 2007 | 2007 | |
weak D type 146 | not reported | weakened D expression weak D type | Single missense mutation | 438G>C (E146D) | 2011 | 2014 | |
weak D type 147 | not reported | weakened D expression weak D type | Single missense mutation | 436G>A (E146K) | 2012 | 2014 | |
weak D type 144 | RHD* 01W.144 RHD*weak D type 144 | CDe | weakened D expression weak D type | Single missense mutation | 579G>C (E193D) | 2016 | |
weak D type 101 | RHD* 01W.101 RHD*weak D type 101 | not reported | weakened D expression weak D type | Single missense mutation | 62A>C (E21A) | 2015 | |
RHD(E340G) | not reported | Single missense mutation | 1019A>G (E340G) | 2013 | |||
weak D type 99 | RHD* 01W.99 RHD*weak D type 99 | CDe | weak D type weakened D expression | Single missense mutation | 1107A>C (E369D) | 2013 | 2013 |
RHD(E369K) | not reported | Single missense mutation | c.1105G>A (Glu369Lys) | 2019 | |||
RHD(F161C) | CDe | weakened D expression | Single missense mutation | 482T>G (F161C) | 2015 | ||
RHD(F175L) | RHD*59 | not reported | Partial D | Single missense mutation | 525C>A (F175L) | 2012 | 2012 |
RHD(F179L) | CDe | D positive (no further data) | Single missense mutation | 537T>G (F179L) | 2012 | ||
RHD(F179S) | not reported | Single missense mutation | 536T>C (F179S) | 2012 | |||
weak D type 141 | RHD*52 RHD* 01W.141 | cDe | Partial D weakened D expression weak D type | Single missense mutation | 668T>C (F223S) | 2015 | 2016 |
weak D type 103 | RHD* 01W.103 RHD*weak D type 103 | not reported | weakened D expression weak D type | Single missense mutation | 91T>A (F31I) | 2015 | |
RHD(F31L) | CDe | DEL | Single missense mutation | 93T>A (F31L) | 2014 | 2014 | |
weak D type 140 | RHD* 01W.140 RHD*weak D type 140 | not reported | weakened D expression weak D type | Single missense mutation | 1229T>C (F410S) | 2016 | 2016 |
weak D type 78 | RHD* 01W.78 RHD*weak D type 78 | CDe | weakened D expression weak D type | Missense (splice site affected) | 1228T>G (F410V) | 2009 | 2011 |
weak D type 133 | RHD* 01W.133 RHD*weak D type 133 | CDe | weakened D expression weak D type | Single missense mutation | 395G>A (G132E) | 2012 | 2012 |
weak D type 132 | RHD* 01W.132 RHD*weak D type 132 | CDe | weakened D expression weak D type | Single missense mutation | 394G>A (G132R) | 2010 | 2012 |
weak D type 132.0.1 | not reported | weak D type | Single missense mutation | 394G>C (G132R) | 2016 | ||
RHD(G151D) | not reported | Single missense mutation | 452G>A (G151D) | 2017 | 2017 | ||
RHD(G180R) | not reported | D positive (no further data) | Single missense mutation | 538G>A (G180R) | 2011 | 2012 | |
weak D type 112 | RHD* 01W.112 RHD*weak D type 112 | not reported | weakened D expression weak D type | Single missense mutation | 635G>A (G212D) | 2015 | 2015 |
RHD(G212R) | RHD*01EL.16 RHD*DEL16 | cDe | DEL | Missense (splice site affected) | 634G>C (G212R) | 2008 | 2009 |
weak D type 111 | RHD* 01W.111 RHD*weak D type 111 | not reported | weakened D expression weak D type | Single missense mutation | 634G>A (G212S) | 2015 | |
RHD(G212V) | RHD*01N.15 | CDe | D negative | Missense (splice site affected) | 635G>T (G212V) | 2001 | 2001 |
RHD(G255R) | not reported | Single missense mutation | 763G>A (G255R) | 2012 | 2012 | ||
weak D type 100 | RHD* 01W.100 RHD*weak D type 100 | CDe | weak D type weakened D expression | Missense (splice site affected) | 787G>A (G263R) | 2010 | |
RHD(G263R,A399T) | not reported | Multiple missense mutations | 1195G>A (A399T) 787G>A (G263R) | 2016 | |||
RHD(G307R) | not reported | Single missense mutation | 919G>C (G307R) | 2016 | |||
RHD(G308R) | not reported | Single missense mutation | 922G>A (G308R) | 2017 | |||
RHD(G308X) | RHD*01EL.15 RHD*DEL15 RHD*01N.52 | CDe | D negative | Nonsense mutation | 922G>T (G308X) | 2010 | |
RHD(G314V) | RHD*01N.20 | CDe | D negative | Missense (splice site affected) | 941G>T (G314V) | 1997 | 1997 |
RHD(G336D) | RHD*01N.80 RHD*1007A | not reported | D negative | Single missense mutation | 1007G>A (G336D) | 2011 | |
RHD(G353V) | not reported | Single missense mutation | 1058G>T (G353V) | 2012 | 2012 | ||
RHD(G353W,A354N) | not reported | D positive (no further data) | hybrid allele | Hybrid RHCE(7:1053-7:1061) | 2012 | 2012 | |
RHD(G368R) | not reported | Single missense mutation | 1102G>A (G368R) | 2014 | |||
RHD(G368W,D404E) | not reported | Multiple missense mutations | 1102G>T (G368W) 1212C>A (D404E) | 2015 | |||
RHD(G381R) | not reported | Single missense mutation | 1141G>C (G381R) | 2017 | |||
RHD(G385D) | RHD*01N.53 | not reported | D negative | Missense (splice site affected) | 1154G>A (G385D) | 2014 | 2014 |
RHD(G385V) | not reported | Single missense mutation | 1154G>T (G385V) | 2016 | |||
weak D type 152 | not reported | weak D type weakened D expression | Single missense mutation | 187G>T (G63C) | 2018 | 2018 | |
RHD(G96D) | RHD* 01W.108 RHD*weak D type 108 | not reported | weakened D expression | Single missense mutation | 287G>A (G96D) | 2015 | 2015 |
RHD(G96R) | not reported | Single missense mutation | 286G>C (G96R) | 2016 | |||
RHD(G96S) | CDe | weakened D expression | Single missense mutation | 286G>A (G96S) | 2005 | ||
RHD(H166D) | not reported | Single missense mutation | 496C>G (H166D) | 2016 | |||
RHD(H171D) | CDe | D positive (no further data) | Single missense mutation | 511C>G (H171D) | 2012 | ||
weak D type 137 | RHD* 01W.137 RHD*weak D type 137 | not reported | weak D type | Single missense mutation | 780C>A (H260Q) | 2016 | |
weak D type 149 | not reported | weakened D expression | Single missense mutation | 779A>G (H260R) | 2013 | 2014 | |
weak D type 156 | not reported | D positive (no further data) | Single missense mutation | 1190A>G (H397R) | 2011 | 2012 | |
RHD(H72P,S73C) | not reported | Multiple missense mutations | 215AC>CA (72H>P) 217A>T (S73C) | 2016 | |||
weak D type 102 | RHD* 01W.102 RHD*weak D type 102 | multiple | weakened D expression weak D type | Single missense mutation | 73A>T (I25F) | 2016 | |
RHD(I341N) | not reported | weakened D expression | Single missense mutation | 1022T>A (I341N) | 2016 | ||
RHD(I392T) | not reported | D positive (no further data) | Single missense mutation | 1175T>C (I392T) | 2011 | 2012 | |
RHD(I60L) | not reported | Single missense mutation | 178A>C (I60L) | 2016 | |||
RHD(I60V,S103P,F161S,L214F) | not reported | Multiple missense mutations | 178A>G (I60V) 307T>C (S103P) 482T>C (F161S) 640C>T (L214F) 966T>C | 2012 | |||
RHD(IVS1+1G>A) | RHD*01EL.05 RHD*DEL5 | not reported | DEL | Splice site mutation | IVS1+1G>A | 2001 | |
RHD(IVS1+5G>C) | RHD*01EL.21 RHD*DEL21 | not reported | DEL | Splice site mutation | IVS1+5G>C | 2013 | |
RHD(IVS1-29G>C) | RHD*01EL.32 RHD*DEL32 | CDe | DEL | Intron polymorphism | IVS1-29G>C | 2012 | |
RHD(IVS2+1G>A) | RHD*01N.24 | not reported | D negative | Splice site mutation | IVS2+1G>A | 2007 | 2007 |
RHD(IVS2-1G>A) | RHD*01N.25 | CDe | D negative | Splice site mutation | IVS2-1G>A | 2005 | 2005 |
RHD(IVS2-2A>G) | RHD*01EL.33 RHD*DEL33 | not reported | DEL | Splice site mutation | IVS2-2A>G | 2011 | 2011 |
RHD(IVS2-2delA) | RHD*53 RHD*01EL.22 | not reported | DEL Partial D | Short deletion | IVS2-2delA | 2013 | |
RHD(IVS3+1G>A) | RHD*01EL.08 RHD*DEL8 | CDe | DEL D negative | Splice site mutation | IVS3+1G>A | 2001 | 2001 |
RHD(IVS3+2T>A) | RHD*01EL.09 RHD*DEL9 | cDE | D negative | Splice site mutation | IVS3+2T>A | 2008 | 2009 |
RHD(IVS3+5G>A) | not reported | weakened D expression | Splice site mutation | IVS3+5G>A | 2007 | 2007 | |
RHD(IVS4+1G>A) | not reported | Splice site mutation | IVS4+1G>A | 2012 | |||
RHD(IVS4+2T>A) | not reported | Splice site mutation | IVS4+2T>A | 2012 | |||
RHD(IVS4+5G>T) | RHD*01EL.14 RHD*DEL14 | CDe | weakened D expression | Splice site mutation | IVS4+5G>T | 2010 | 2013 |
RHD(IVS4-2A>C) | RHD*54 | cDE | Partial D | Splice site mutation | IVS4-2A>C | 2014 | 2014 |
RHD(IVS4-2A>G) | RHD*01EL.19 RHD*DEL19 | not reported | weakened D expression | Splice site mutation | IVS4-2A>G | 2010 | 2011 |
RHD(IVS5+1G>A) | RHD*01N.54 | not reported | D negative | Splice site mutation | IVS5+1G>A | 2012 | |
RHD(IVS5+2T>A) | not reported | Splice site mutation | 2012 | ||||
RHD(IVS5-38del tctc) | RHD*01N.58 | not reported | DEL | Intron polymorphism | IVS5-38del tctc | 2005 | 2005 |
RHD(IVS5-41delCTCT) | not reported | Intron polymorphism | 2012 | ||||
RHD(IVS6+1G>A) | RHD*01N.55 | CDe | D negative | Splice site mutation | IVS6+1G>A | 2014 | 2014 |
RHD(IVS6+2T>A) | RHD*01N.38 | not reported | D negative | Splice site mutation | IVS6+2T>A | 2013 | |
RHD(IVS6-4A>C) | not reported | weakened D expression | Splice site mutation | IVS6-4A>C | 2012 | ||
RHD(IVS7+152C>A,1227G>A) | RHD*01EL.36 RHD*DEL36 | CDe | DEL | Splice site mutation | 1227G>A IVS7+152C>A | 2002 | 2002 |
RHD(IVS7+1G>A) | not reported | Splice site mutation | IVS7+1G>A | 2016 | |||
RHD(IVS7+1G>T) | RHD*01N.70 | not reported | D negative | Splice site mutation | IVS7+1G>T | ||
RHD(IVS7+2T>C) | RHD*01N.56 | not reported | D negative | Splice site mutation | IVS7+2T>C | 2012 | |
RHD(IVS7-1G>A) | RHD*01N.71 | not reported | Splice site mutation | IVS7-1G>A | |||
RHD(IVS7-2A>C) | RHD*01N.81 RHD*1074-2C | not reported | Splice site mutation | IVS7-2A>C | 2011 | ||
RHD(IVS8+1G>A) | RHD*01N.26 | CDe | D negative | Splice site mutation | IVS8+1G>A | 2001 | 2001 |
RHD(IVS8+6T>C) | cDE | weakened D expression | Splice site mutation | IVS8+6T>C | 2012 | ||
RHD(IVS8-31C>T) | RHD*01EL.37 RHD*DEL37 | not reported | DEL | Intron polymorphism | IVS8-31C>T | 2012 | |
RHD(IVS8-8T>A) | RHD*01EL.20 RHD*DEL20 | not reported | weakened D expression | Splice site mutation | IVS8-8T>A | 2007 | 2007 |
RHD(IVS9+5G>C) | not reported | weakened D expression | Splice site mutation | c.1227+5G>C | 2019 | ||
RHD(IVS9-1G>A) | RHD*01N.77 RHD*1228-1A | CDe | Splice site mutation | IVS9-1G>A | 2014 | 2014 | |
RHD(K133N) | not reported | weakened D expression | Single missense mutation | 399G>C (K133N) | 2014 | ||
RHD(K189N,S257F) | not reported | Multiple missense mutations | 567G>T (K189N) 770C>T (S257F) | 2016 | |||
weak D type 124 | RHD* 01W.124 RHD*weak D type 124 | not reported | weakened D expression weak D type | Single missense mutation | 594A>T (K198N) | 2015 | |
RHD(K235N) | not reported | Single missense mutation | 705G>T (K235N) | 2017 | |||
RHD(K267M) | not reported | Single missense mutation | 800A>T (K267M) | 2016 | |||
RHD(K394T) | not reported | weakened D expression | Single missense mutation | c.1181A>C (Lys394Thr) | 2019 | ||
weak D type 126 | RHD* 01W.126 RHD*weak D type 126 | not reported | weak D type weakened D expression | Single missense mutation | 1199A>T (K400I) | 2015 | |
weak D type 127 | RHD* 01W.127 RHD*weak D type 127 | not reported | weakened D expression weak D type | Single missense mutation | 1200A>T (K400N) | 2012 | 2012 |
RHD(L110P)-CE(3-9)-D | CDe | Complex changes | 329T>C (L110P) Hybrid RHCE(3-9) | 2014 | 2014 | ||
RHD(L153P) | RHD*01EL.12 RHD*DEL12 | cDE | DEL | Single missense mutation | 458T>C (L153P) | 2004 | 2009 |
weak D type 97 | RHD* 01W.97 RHD*weak D type 97 | CDe | weak D type weakened D expression | Single missense mutation | 542T>C (L181P) | 2013 | 2013 |
RHD(L18P) | RHD*01EL.03 RHD*DEL3 | not reported | DEL | Single missense mutation | 53T>C (L18P) | 2006 | 2006 |
RHD(L20P) | not reported | Single missense mutation | 59T>C (L20P) | 2017 | |||
RHD(L214F)-CE(7)-D | not reported | weakened D expression Partial D | Single missense mutation | 640C>T (L214F) Hybrid RHCE(7) | 2018 | 2018 | |
weak D type 154 | not reported | weakened D expression weak D type | Single missense mutation | 648G>C (L216F) | 2012 | ||
RHD(L228Q) | not reported | Single missense mutation | 683T>A (L228Q) | 2012 | 2012 | ||
RHD(L258S) | not reported | Single missense mutation | 773T>C (L258S) | 2017 | |||
RHD(L297P) | not reported | Single missense mutation | 890T>C (L297P) | 2016 | |||
RHD(L299P) | RHD*01N.79 RHD*896C | not reported | Single missense mutation | 896T>C (L299P) | 2011 | ||
RHD(L337R) | RHD*01EL.38 RHD*DEL38 RHD*01N.57 | CDe | D negative DEL | Single missense mutation | 1010T>G (L337R) | 2014 | 2014 |
RHD(L370L) | CDe | weakened D expression | Silent mutation | 1110C>T (L370L) | 2009 | ||
RHD(L378P) | not reported | Single missense mutation | c.1133T>C (Leu378Pro) | 2019 | |||
weak D type 92 | RHD* 01W.92 RHD*weak D type 92 | not reported | weak D type weakened D expression | Single missense mutation | 1145T>C (L382P) | 2014 | 2014 |
weak D type 10.1 | RHD*01W.10.1 RHD*weak D type 10.1 | not reported | weak D type weakened D expression | Multiple missense mutations | 1145T>C (L382P) 1177T>C (W393R) | 2016 | |
RHD(L386X) | not reported | D negative | Single missense mutation | 1157T>A (L386X) IVS5-41delCTCT | 2014 | 2014 | |
RHD(L38X) | RHD*01EL.39 RHD*DEL39 | not reported | DEL | Nonsense mutation | 113T>A (L38X) | 2010 | |
RHD(L390L) | not reported | weakened D expression | Silent mutation | 1170T>C (L390L) | 2010 | 2011 | |
weak D type 41.0.1 | RHD*01w.41.0.1 RHD*weak D type 41.01. | not reported | weak D type weakened D expression | Multiple missense mutations | 1170T>C (L390L) 1193A>T (E398V) | 2016 | |
weak D type 139 | RHD* 01W.139 RHD*weak D type 139 | not reported | weak D type | Single missense mutation | 1169T>C (L390P) | 2016 | |
weak D type 134 | RHD* 01W.134 RHD*weak D type 134 | not reported | weak D type | Single missense mutation | 1168C>G (L390V) | 2012 | 2012 |
weak D type 83 | RHD* 01W.83 RHD*weak D type 83 | cDE | weakened D expression | Single missense mutation | 1238T>G (L413W) | 2012 | |
DIVa-like | RHD*04.01.02 | not reported | hybrid allele | 1048G>C (D350H) 186G>T (L62F) 410C>T (A137V) 455A>C (N152T) 667T>G (F223V) | |||
RHD(L81P) | RHD*55 | not reported | weakened D expression Partial D | Single missense mutation | 242T>C (L81P) | 2009 | |
RHD(L84P) | RHD*01EL.06 RHD*DEL6 | not reported | DEL | Single missense mutation | 251T>C (L84P) | 2006 | 2006 |
RHD(L93R) | RHD*01EL.40 RHD*DEL40 | CDe | DEL | Single missense mutation | 278T>G (L93R) | 2014 | 2014 |
RHD(M118K,V174M) | not reported | Partial D | Multiple missense mutations | 353T>A (M118K) 520G>A (V174M) | 2017 | 2017 | |
RHD(M155V) | not reported | Single missense mutation | 463A>G (M155V) | 2017 | |||
RHD(M1I) | RHD*01EL.02 RHD*DEL2 | not reported | DEL | Loss of start codon | 3G>A (M1I) | 2006 | 2006 |
RHD(M1T) | cDE | Loss of start codon | 2T>C (M1T) | 2015 | 2015 | ||
RHD(M295I) | RHD*11 RHD*weak partial 11 | CDe | DEL Partial D | Single missense mutation | 885G>T (M295I) | 2001 | 2001 |
weak D type 94 | RHD* 01W.94 RHD*weak D type 94 RHD*01EL.46 | CDe | weak D type weakened D expression | Single missense mutation | 884T>C (M295T) | 2012 | 2013 |
weak D type 115 | RHD* 01W.115 RHD*weak D type 115 | CDe | weakened D expression weak D type | Single missense mutation | 983T>A (M328K) | 2015 | 2015 |
RHD(N135D) | not reported | Single missense mutation | 403A>G (N135D) | 2014 | |||
RHD(N152T,V270G) | RHD*62 | not reported | Multiple missense mutations | 455A>C (N152T) 809T>G (V270G) | 2014 | ||
weak D type 148 | not reported | weakened D expression weak D type | Single missense mutation | 670A>G (N224D) | 2013 | 2014 | |
weak D type 125 | RHD* 01W.125 RHD*weak D type 125 | not reported | weakened D expression weak D type | Single missense mutation | 671A>G (N224S) | 2015 | |
RHD(N240H) | not reported | Single missense mutation | 718A>C (N240H) | 2014 | |||
weak D type 90 | RHD* 01W.90 RHD*weak D type 90 | CDe | weak D type weakened D expression | Single missense mutation | 993C>G (N331K) | 2014 | 2014 |
weak D type 136 | RHD* 01W.136 RHD*weak D type 136 | not reported | weak D type | Single missense mutation | 41C>T (P14L) | 2016 | |
RHD(P221R) | not reported | Single missense mutation | 662C>G (P221R) | 2016 | |||
RHD(P231L) | not reported | Single missense mutation | 691CC>TT (P231L) | 2016 | |||
RHD(P261A) | not reported | weakened D expression | Single missense mutation | 781C>G (P261A) | 2017 | ||
RHD(P291R) | RHD*01EL.41 RHD*DEL41 | CDe | DEL | Single missense mutation | 872C>G (P291R) | 2012 | |
weak D type 138 | RHD* 01W.138 RHD*weak D type 138 | not reported | weak D type | Single missense mutation | 871C>T (P291S) | 2016 | |
RHD(P313P) | not reported | Splice site mutation | 939G>A | 2012 | 2012 | ||
RHD(P313T) | CDe | weakened D expression | Single missense mutation | 937C>A (P313T) | 2015 | ||
weak D type 114 | RHD* 01W.114 RHD*weak D type 114 | not reported | weakened D expression weak D type | Single missense mutation | 968C>T (P323L) | 2015 | 2015 |
weak D type 91 | RHD* 01W.91 RHD*weak D type 91 | CDe | weak D type weakened D expression | Single missense mutation | 1187C>G (P396R) | 2014 | 2014 |
weak D type 110 | RHD* 01W.110 RHD*weak D type 110 | not reported | weakened D expression weak D type | Single missense mutation | 413A>G (Q138R) | 2015 | 2015 |
RHD(Q200X) | RHD*01N.59 | not reported | D negative | Nonsense mutation | 598C>T (Q200X) | 2011 | |
RHD(Q362X) | RHD*01N.64 | not reported | D negative | Nonsense mutation | 1084C>T (Q362X) | ||
RHD(Q405X) | RHD*01N.60 | not reported | D negative | Nonsense mutation | 1213C>T (Q405X) | 2015 | |
RHD(Q41X) | RHD*01N.09 | CDe | D negative | Nonsense mutation | 121C>T (Q41X) 643T>C (F215L) 646T>C 988T>C (Y330H) | 1997 | 1997 |
RHD(Q49R) | not reported | weakened D expression | Single missense mutation | 146A>G (Q49R) | 2003 | ||
RHD(Q89R) | not reported | Single missense mutation | 266A>G (Q89R) | 2014 | |||
RHD(R10L) | not reported | Single missense mutation | 29G>T (R10L) | 2015 | |||
RHD(R114Q,A399T) | not reported | Single missense mutation | 1195G>A (A399T) 341G>A (R114Q) | 2017 | |||
RHD(R318X) | RHD*01N.61 | CDe | D negative | Nonsense mutation | 952C>T (R318X) | 2008 | 2009 |
weak D type 85 | RHD* 01W.85 RHD*weak D type 85 | CDe | weak D type weakened D expression | Single missense mutation | 209G>A (R70Q) | 2010 | |
weak D type 122 | RHD* 01W.122 RHD*weak D type 122 | not reported | weakened D expression weak D type | Single missense mutation | 208C>T (R70W) | 2011 | |
weak D type 45.2 | RHD*01w.45.2 RHDÜweak D type 45.2 | CDe | weak D type weakened D expression | Multiple missense mutations | 1195G>A (A399T) 208C>T (R70W) 818C>T (A273V) | 2013 | 2013 |
RHD(R71S) | not reported | D positive (no further data) | Single missense mutation | 213A>T (R71S) | 2011 | 2012 | |
RHD(S103P) | RHD*39 | cDE | Partial D | Single missense mutation | 307T>C (S103P) | 1996 | 1996 |
RHD(S112G) | not reported | weakened D expression | Missense (splice site affected) | 334A>G (S112G) | 2009 | ||
RHD(S112I) | RHD*01N.68 | not reported | Single missense mutation | 335G>T (S112I) | 2012 | ||
RHD(S112T) | RHD*01EL.42 RHD*DEL42 | not reported | DEL | Missense (splice site affected) | 335G>C (S112T) IVS1-29G>C | 2012 | |
weak D type 153 | not reported | weak D type weakened D expression | Single missense mutation | 365C>G (S122W) | 2011 | 2012 | |
weak D type 109 | RHD* 01W.109 RHD*weak D type 109 | not reported | weakened D expression weak D type | Single missense mutation | 376T>C (S126P) | 2015 | |
RHD(S230I) | not reported | Single missense mutation | 689G>T (S230I) | 2016 | |||
RHD(S230N) | not reported | Single missense mutation | 689G>A (S230N) | 2016 | |||
RHD(S254X) | RHD*01N.62 | CDe | D negative | Nonsense mutation | 761C>G (S254X) | 2015 | 2015 |
weak D type 77 | RHD* 01W.77 RHD*weak D type 77 | not reported | weakened D expression weak D type | Single missense mutation | 766T>C (S256P) | 2010 | 2011 |
RHD(S256X) | RHD*01N.39 | CDe | D negative | Nonsense mutation | 767C>G (S256X) | 2012 | 2013 |
RHD(S266G,V270G) | not reported | Single missense mutation | 796A>G (S266G) 809T>G (V270G) | 2016 | |||
weak D type 3.1 | RHD*01W.3.1 RHD*weak D type 3.1 | CDe | weak D type weakened D expression | Multiple missense mutations | 178A>C (I60L) 8C>G (S3C) | 2014 | 2014 |
weak D type 105 | RHD* 01W.105 RHD*weak D type 105 | not reported | weak D type weakened D expression | Single missense mutation | 200C>G (S67W) | 2015 | 2015 |
RHD(S68T)-RHCe(3-9)-RHD | RHD*01N.04 | CDe | D negative | hybrid allele | 203G>C (S68T) Hybrid RHCE(3-9) | 2005 | 2005 |
weak D type 107 | RHD* 01W.107 RHD*weak D type 107 | not reported | weakened D expression weak D type | Single missense mutation | 223A>T (S75C) | 2015 | |
RHD(T148R) | RHD*01N.73 RHD*443G | not reported | D negative | Single missense mutation | 443C>G (T148R) | 2012 | 2012 |
RHD(T148R,T195M) | not reported | Multiple missense mutations | 443C>G (T148R) 584C>T (T195M) | 2017 | |||
RHD(T201R,V270G) | not reported | Multiple missense mutations | 602C>G (T201R) 809T>G (V270G) | 2017 | |||
RHD(T241P) | RHD*01EL.45 RHD*DEL45 | not reported | Single missense mutation | 721A>C (T241P) | |||
weak D type 98 | RHD* 01W.98 RHD*weak D type 98 | cDE | weak D type weakened D expression | Single missense mutation | 751A>C (T251P) | 2013 | 2013 |
RHD(T32N) | not reported | weakened D expression | Single missense mutation | 95C>A (T32N) | 2013 | 2014 | |
weak D type 130 | RHD* 01W.130 RHD*weak D type 130 | CDe | weakened D expression weak D type | Single missense mutation | 163A>C (T55P) | 2011 | 2012 |
weak D type 123 | RHD* 01W.123 RHD*weak D type 123 | not reported | weakened D expression weakened D expression | Single missense mutation | 379G>T (V127L) | 2015 | |
RHD(V147M,A399T) | not reported | Multiple missense mutations | 1195G>A (A399T) 1195G>A (V147M) | 2016 | |||
RHD(V174M,G307R) | not reported | Multiple missense mutations | 520G>A (V174M) 919G>A (G307R) | 2017 | |||
RHD(V174M,V306I) | cDe | Multiple missense mutations | 520G>A (V174M) 916G>A (V306I) | 2012 | |||
RHD(V238L,V270G) | not reported | D positive (no further data) | Multiple missense mutations | 712G>C (V238L) 809T>G (V270G) | 2012 | 2012 | |
weak D type 1.2 | RHD*01w.1.2 RHD*weak D type 1.2 | CDe | weak D type weakened D expression | Multiple missense mutations | 712G>A (V238M) 809T>G (V270G) | 2014 | 2014 |
RHD(V245L,G263R,K267M) | not reported | Multiple missense mutations | 733G>C (V245L) 744C>T 787G>A (G263R) 800A>T (K267M) | 2017 | |||
RHD(V247L) | not reported | Single missense mutation | 739G>C (V247L) | 2017 | |||
RHD(V281L) | not reported | Single missense mutation | 841G>C (V281L) | 2016 | |||
RHD(V306I,Y311C) | not reported | hybrid allele | 916G>A (V306I) 932A>G (Y311C) | 2016 | |||
weak D type 2.2 | RHD*01W.2.2 RHD*weak D type 2.2 | cDE | weak D type weakened D expression | Multiple missense mutations | 1154G>C (G385A) 916G>A (V306I) 932A>G (Y311C) | 2014 | 2014 |
RHD(V319G) | not reported | Single missense mutation | 956T>G (V319G) | 2017 | |||
RHD(V352I) | not reported | Single missense mutation | 1054G>A (V352I) | 2012 | 2012 | ||
RHD(V50D) | not reported | Single missense mutation | 149T>A (V50D) | 2016 | |||
RHD(V56M,W90X) | CDe | D negative D negative | Nonsense mutation | 166G>A (V56M) 270G>A (W90X) | 2008 | 2009 | |
RHD(W16R) | RHD*01EL.43 RHD*DEL43 | cDE | DEL | Single missense mutation | 46T>C (W16R) | 2012 | |
RHD(W16X) | RHD*01N.08 | CDe | D negative | Nonsense mutation | 48G>A (W16X) | 2001 | 2001 |
RHD(W185X) | RHD*01N.14 | CDe | D negative | Nonsense mutation | 554G>A (W185X) | 2005 | 2005 |
RHD(W185X) [c,555G>A] | not reported | D negative | Nonsense mutation | 555G>A (W185X) | 2015 | 2015 | |
weak D type 113 | RHD* 01W.113 RHD*weak D type 113 | not reported | weak D type weakened D expression | Single missense mutation | 874T>C (W292R) | 2015 | |
weak D type 10.2 | RHD*01W.10.2 RHD*weak D type 10.2 | not reported | weakened D expression weak D type | Multiple missense mutations | 1177T>C (W393R) 1199A>C (K400T) | 2015 | 2016 |
RHD(W393X) | RHD*01N.76 RHD*1179A | not reported | Nonsense mutation | 1179G>A (W393X) | 2014 | 2014 | |
RHD(W408R) | RHD*01EL.10 RHD*DEL10 | CDe | DEL | Single missense mutation | 1222T>C (W408R) | 2005 | 2005 |
weak D type 106 | RHD* 01W.106 RHD*weak D type 106 | cDE | weak D type weakened D expression | Single missense mutation | 220T>G (W74G) | 2015 | 2015 |
RHD(W90X) | RHD*01N.10 | CDe | D negative | Nonsense mutation | 270G>A (W90X) | 2002 | 2002 |
RHD(X418L) | RHD*01EL.11 RHD*DEL11 | CDe | DEL | Loss of stop codon | X418L (1252ins T) | 2005 | 2005 |
RHD(X418S) | not reported | Loss of stop codon | 1253A>C (X418S) | 2014 | |||
RHD(Y243X) | not reported | Nonsense mutation | 729T>A (Y243X) | 2017 | |||
RHD(Y269X) | RHD*01N.18 | CDe | D negative | Nonsense mutation | 807T>G (Y269X) | 2004 | 2009 |
RHD(Y311C) | not reported | Single missense mutation | 932A>G (Y311C) | 2014 | 2014 | ||
RHD(Y311X)[933A] | RHD*01N.19 | CDe | D negative | Nonsense mutation | 933C>A (Y311X) | 2005 | 2005 |
RHD(Y311X)[761G] | RHD*01N.63 | not reported | D negative | Nonsense mutation | 933C>G (Y311X) | ||
RHD(Y330X) | RHD*01N.21 | CDe | D negative | Nonsense mutation | 990C>G (Y330X) | 2001 | 2001 |
RHD(Y343X) | RHD*01N.40 | cDE | D negative | Nonsense mutation | 1029C>A (Y343X) | 2012 | 2013 |
RHD(Y34C) | not reported | weakened D expression | Single missense mutation | 101A>G (Y34C) | 2011 | 2012 | |
RHD(Y401X) | RHD*01N.22 RHD*DEL17 RHD*01EL.17 | cDE | D negative | Nonsense mutation | 1203T>A (Y401X) | 2004 | 2005 |
RHD(Y48C) | not reported | weakened D expression | Single missense mutation | 143A>G (Y48C) | 2016 | 2016 | |
RHD(del Ex8) | RHD*01EL.30 RHD*DEL30 | not reported | DEL | large deletion | del Ex8 | 2007 | 2007 |
RHD(del44L) | RHD*51 | not reported | Partial D | In frame deletion | 130delCTC | 2013 | 2014 |
RHD(delEx1) | RHD*01N.67 | not reported | D negative | large deletion | delEx1 | ||
RHDex10del type 1 | not reported | weakened D expression DEL | large deletion | delEx10 | 2012 | 2012 | |
RHD*5'UTR-115C | not reported | untranslated region | IVS0-115A>C | 2017 | |||
RHD*745_757del | RHD*01N.30 | not reported | D negative | Short deletion | 745delGTGGTGACAGCCA | ||
RHD-RHCE(10) | CDe | DEL | hybrid allele | hybrid RHCE(10) | 2009 | 2009 | |
RHD-RHCE(2)-RHD(F355S) | not reported | Complex changes | 1063G>A (G355S) Hybrid RHCE(2) | 2012 | 2012 | ||
RHD-RHCE(2-5)-RHD | not reported | DEL | hybrid allele | Hybrid RHCE(2-5) | |||
RHD-RHCE(4-7)-RHD | RHD*01N.07 | cDE | D negative DEL | hybrid allele | Hybrid RHCE(4-7) | 1996 | 1996 |
RHD-RHCE(4-7)-RHD1 | RHD*01N.07 | cDE | D negative | hybrid allele | Hybrid RHCE(4-7) | ||
RHD-RHCE(4-7)-RHD2 | RHD*01N.07 | cDE | D negative | hybrid allele | Hybrid RHCE(4-7) | ||
RHD-RHCE(4-8)-RHD | RHD*01N.07 | CDe | D negative | hybrid allele | Hybrid RHCE(4-7) | 2005 | 2005 |
RHD-RHCE(4-9)-RHD | RHD*01EL.44 RHD*DEL44 | CDe | DEL | hybrid allele | Hybrid RHCE(4-9) | 2009 | 2009 |
RHD-RHCE(5:733-5:787)-RHD | not reported | Single missense mutation | Hybrid RHCE(5:733-5:787) | 2016 | |||
RHD-RHCE(7)-RHD | RHD*58 | cDE | Partial D D category | hybrid allele | Hybrid RHCE(7) | 2012 | |
RHD-RHCE(8-9)-RHD | CDe | D negative | hybrid allele | Hybrid RHCE(8-9) | 1997 | 1997 | |
RHD-RHCE[245V](5)-RHD | not reported | hybrid allele | Hybrid RHCE[245V](5) | 2017 | |||
RHD-RHCe(2-7)-RHD | RHD*01N.05 | CDe | D negative | hybrid allele | Hybrid RHCE(3-7) | 2001 | 2001 |
RHD-RHCe(2-9)-RHD | RHD*01N.03 | CDe | D negative | hybrid allele | Hybrid RHCE(3-9) | 1996 | 1996 |
RHD-RHcE[226P](5:676-5:733)-RHD | not reported | hybrid allele | Hybrud RHcE[226P]/5;676-5:733 | 2016 | |||
RHD-cE(5-6)-D | not reported | hybrid allele | Hybrid RHcE[226P](5-6) | 2015 | |||
RHD-ceAG.05(2)-D | not reported | hybrid allele | 254C>G (A85G) 744C>T Hybrid RHCE(2) | 2017 | |||
RHDex10del type 2 | not reported | D negative | large deletion | del1227-2108_1254+1317 | 2017 | 2017 | |
RHDex1del type 1 | cDe | DEL | large deletion | del25257404_25275848 | 2017 | 2017 | |
standard RHD | RHD*01 | multiple | D positive (apparently normal) | standard sequence | |||
weak D type 1 | RHD*01W.1 RHD*weak D type 1 | CDe | weak D type weakened D expression | Single missense mutation | 809T>G (V270G) | 1999 | 1999 |
weak D type 1.1 | RHD*01W.1.1 RHD*weak D type 1.1 | CDe | weak D type weakened D expression | Multiple missense mutations | 52C>G (L18V) 809T>G (V270G) | 2004 | 2005 |
weak D type 10 | RHD*01W.10 RHD*weak D type 10 | cDE | weak D type weakened D expression | Single missense mutation | 1177T>C (W393R) | 1999 | 1999 |
weak D type 11 | RHD*11 RHD*weak partial 11 | cDe | weak D type weakened D expression Partial D | Single missense mutation | 885G>T (M295I) | 1999 | 1999 |
weak D type 12 | RHD*01W.12 RHD*weak D type 12 | CDe | weak D type weakened D expression | Single missense mutation | 830G>A (G277E) | 1999 | 1999 |
weak D type 13 | RHD*01W.13 RHD*weak D type 13 | CDe | weak D type weakened D expression | Single missense mutation | 826G>C (A276P) | 1999 | 1999 |
weak D type 14 | RHD*01W.14 RHD*weak D type 14 | cDE | weak D type weakened D expression | Multiple missense mutations | 544T>A (S182T) 594A>T (K198N) 602C>G (T201R) | 1999 | 1999 |
weak D type 145 | RHD* 01W.145 RHD*weak D type 145 | not reported | Single missense mutation | 41C>G (P14R) | |||
weak D type 15 | RHD*15 RHD*weak partial 15 | cDE | weak D type weakened D expression Partial D | Single missense mutation | 845G>A (G282D) | 1999 | 1999 |
weak D type 16 | RHD*01W.16 RHD*weak D type 16 | cDE | weak D type weakened D expression | Single missense mutation | 658T>C (W220R) | 1999 | 1999 |
weak D type 17 | RHD*01W.17 RHD*weak D type 17 | CDE | weak D type weakened D expression | Single missense mutation | 340C>T (R114W) | 2000 | 2000 |
weak D type 18 | RHD*01W.18 RHD*weak D type 18 | not reported | weak D type weakened D expression | Single missense mutation | 19C>T (R7W) | 2000 | |
weak D type 19 | RHD*01W.19 RHD*weak D type 19 | cDe | weak D type weakened D expression | Single missense mutation | 611T>C (I204T) | 2006 | 2006 |
weak D type 2 | RHD*01W.2 RHD*weak D type 2 | cDE | weak D type weakened D expression | Missense (splice site affected) | 1154G>C (G385A) | 1999 | 1999 |
weak D type 2.1 | RHD*01W.2.1 RHD*weak D type 2.1 | cDE | weak D type weakened D expression | Multiple missense mutations | 1154G>C (G385A) 301T>A (F101I) | 2009 | |
weak D type 20 | RHD*01W.20 RHD*weak D type 20 | cDE | weak D type | Single missense mutation | 1250T>C (F417S) | 2000 | 2006 |
weak D type 21 | RHD*21 RHD*weak partial D 21 | CDe | weak D type Partial D weakened D expression | Single missense mutation | 938C>T (P313L) | 2001 | 2001 |
weak D type 22 | RHD*01W.22 RHD*weak D type 22 | CDe | weak D type weakened D expression | Single missense mutation | 1224G>C (W408C) | 2000 | |
weak D type 23 | RHD*01W.23 RHD*weak D type 23 | not reported | weak D type weakened D expression | Single missense mutation | 634G>T (G212C) | 2001 | 2001 |
weak D type 24 | RHD*01W.24 RHD*weak D type 24 | not reported | weak D type weakened D expression | Single missense mutation | 1013T>C (L338P) | 2003 | 2003 |
weak D type 25 | RHD*01W.25 RHD*weak D type 25 | not reported | weak D type weakened D expression | Single missense mutation | 341G>A (R114Q) | 2005 | |
weak D type 26 | RHD*01W.26 RHD*weak D type 26 | CDe | weak D type weakened D expression | Single missense mutation | 26T>A (V9D) | 2004 | 2005 |
weak D type 27 | RHD*01W.27 RHD*weak D type 27 | not reported | weak D type weakened D expression | Single missense mutation | 661C>T (P221S) | 2002 | |
weak D type 28 | RHD*01W.28 RHD*weak D type 28 | not reported | weak D type weakened D expression | Splice site mutation | 1152A>C (T384T) | 2002 | |
weak D type 3 | RHD*01W.3 RHD*weak D type 3 | CDe | weak D type weakened D expression | Single missense mutation | 8C>G (S3C) | 1999 | 1999 |
weak D type 30 | RHD*01W.30 RHD*weak D type 30 | not reported | weak D type weakened D expression | Multiple missense mutations | 1018GA>AT (E340M) | 2003 | |
weak D type 31 | RHD*01W.31 RHD*weak D type 31 | CDe | weak D type weakened D expression | Single missense mutation | 17C>T (P6L) | 2004 | 2005 |
weak D type 32 | RHD*01W.32 RHD*weak D type 32 | CDe | weak D type weakened D expression | Single missense mutation | 1121T>A (I374N) | 2005 | 2005 |
weak D type 33 | RHD*01W.33 RHD*weak D type 33 | CDe | weak D type weakened D expression | Single missense mutation | 520G>A (V174M) | 2003 | 2003 |
weak D type 34 | RHD*01W.34 RHD*weak D type 34 | not reported | weak D type weakened D expression | Single missense mutation | 809T>A (V270E) | 2003 | 2003 |
weak D type 35 | RHD*01W.35 RHD*weak D type 35 | not reported | weak D type weakened D expression | Single missense mutation | 260G>A (G87D) | 2003 | |
weak D type 36 | RHD*01W.36 RHD*weak D type 36 | not reported | weak D type weakened D expression | Single missense mutation | 842T>G (V281G) | 2004 | |
weak D type 37 | RHD*01W.37 RHD*weak D type 37 | not reported | weak D type weakened D expression | Single missense mutation | 399G>T (K133N) | 2003 | 2004 |
weak D type 38 | RHD*01W.38 RHD*weak D type 38 | CDe | weak D type weakened D expression | Single missense mutation | 833G>A (G278D) | 2003 | 2004 |
weak D type 39 | RHD*01W.39 RHD*weak D type 39 | CDe | weak D type weakened D expression | Single missense mutation | 1015G>A (G339R) | 2003 | |
weak D type 40 | RHD*01W.40 RHD*weak D type 40 | not reported | weak D type weakened D expression | Single missense mutation | 602C>G (T201R) | 2003 | |
weak D type 41 | RHD*01W.41 RHD*weak D type 41 | not reported | weak D type weakened D expression | Single missense mutation | 1193A>T (E398V) | 2004 | |
weak D type 42 | RHD*01W.42 RHD*weak D type 42 | not reported | weak D type weakened D expression Partial D | Missense (splice site affected) | 1226A>T (K409M) | 2005 | 2005 |
weak D type 43 | RHD*01W.43 RHD*weak D type 43 | CDe | weak D type weakened D expression | Single missense mutation | 605C>T (A202V) | 2006 | 2006 |
weak D type 44 | RHD*01W.44 RHD*weak D type 44 | not reported | weak D type weakened D expression | Single missense mutation | 728A>G (Y243C) | 2004 | |
weak D type 45 | RHD*01W.45 RHD*weak D type 45 | not reported | weak D type weakened D expression Partial D | Single missense mutation | 1195G>A (A399T) | 2004 | |
weak D type 45.1 | RHD*01w.45.1 RHDÜweak D type 45.1 | not reported | weak D type weakened D expression | Multiple missense mutations | 1195G>A (A399T) 818C>T (A273V) | 2010 | |
weak D type 46 | RHD*01W.46 RHD*weak D type 46 | not reported | weak D type weakened D expression | Single missense mutation | 1221C>A (F407L) | 2004 | |
weak D type 47 | RHD*01W.47 RHD*weak D type 47 | not reported | weak D type weakened D expression | Single missense mutation | 340C>G (R114G) | 2005 | |
weak D type 48 | RHD*01W.48 RHD*weak D type 48 | cDE | weak D type weakened D expression | Single missense mutation | 182G>T (G61V) | 2005 | |
weak D type 49 | RHD*01W.49 RHD*weak D type 49 | CDe | weak D type weakened D expression | Single missense mutation | 770C>T (S257F) | 2006 | 2007 |
weak D type 5 | RHD*01W.5 RHD*weak D type 5 | cDE | weak D type weakened D expression | Single missense mutation | 446C>A (A149D) | 1999 | 1999 |
weak D type 50 | RHD*01W.50 RHD*weak D type 50 | not reported | weak D type weakened D expression | Single missense mutation | 727T>A (Y243N) | 2006 | |
weak D type 51 | RHD*01W.51 RHD*weak D type 51 | not reported | weak D type weakened D expression | hybrid allele | Hybrid RHCE(4:594-4:602) | 2005 | |
weak D type 52 | RHD*01W.52 RHD*weak D type 52 | not reported | weak D type weakened D expression | Single missense mutation | 92T>C (F31S) | 2005 | |
weak D type 53 | RHD*01W.53 RHD*weak D type 53 | CDe | weak D type weakened D expression | Single missense mutation | 740T>G (V247G) | 2005 | |
weak D type 54 | RHD*01W.54 RHD*weak D type 54 | cDE | weak D type weakened D expression | Single missense mutation | 365C>T (S122L) | ||
weak D type 55 | RHD*01W.55 RHD*weak D type 55 | cDE | weak D type weakened D expression | Single missense mutation | 895C>G (L299V) | 2007 | |
weak D type 56 | RHD*01W.56 RHD*weak D type 56 | not reported | weak D type weakened D expression | Single missense mutation | 65C>A (A22E) | 2007 | 2007 |
weak D type 57 | RHD*57 RHD*weak partial 57 | not reported | weak D type weakened D expression Partial D | Single missense mutation | 640C>T (L214F) | 2007 | 2007 |
weak D type 58 | RHD*01W.58 RHD*weak D type 58 | CDe | weak D type weakened D expression | Single missense mutation | 1006G>C (G336R) | 2007 | 2007 |
weak D type 59 | RHD*01W.59 RHD*weak D type 59 | not reported | weak D type weakened D expression | Single missense mutation | 1148T>C (L383P) | 2007 | 2007 |
weak D type 6 | RHD*01W.6 RHD*weak D type 6 | CDe | weak D type weakened D expression | Single missense mutation | 29G>A (R10Q) | 1999 | 1999 |
weak D type 60 | RHD*01W.60 RHD*weak D type 60 | not reported | weak D type weakened D expression | In frame deletion | 1219delTTCTGG (407delFW) | 2007 | 2007 |
weak D type 61 | RHD*01W.61 RHD*weak D type 61 | CDe | weak D type weakened D expression DEL | Single missense mutation | 28C>T (R10W) | 2006 | 2006 |
weak D type 62 | RHD*01W.62 RHD*weak D type 62 | not reported | weak D type weakened D expression | Single missense mutation | 661C>A (P221T) | 2006 | |
weak D type 63 | RHD*01W.63 RHD*weak D type 63 | not reported | weak D type weakened D expression | Single missense mutation | 758T>A (I253N) | 2007 | |
weak D type 64 | RHD*01W.64 RHD*weak D type 64 | not reported | weak D type weakened D expression | Single missense mutation | 881C>T (A294V) | 2007 | |
weak D type 65 | RHD*01W.65 RHD*weak D type 65 | cDe | weak D type weakened D expression | Single missense mutation | 68C>A (A23D) | 2008 | |
weak D type 66 | RHD*01W.66 RHD*weak D type 66 | CDe | weak D type weakened D expression | Single missense mutation | 916G>A (V306I) | 2007 | |
weak D type 67 | RHD*01W.67 RHD*weak D type 67 | cDE | weak D type weakened D expression | Single missense mutation | 722C>T (T241I) | 2008 | |
weak D type 68 | RHD*01W.68 RHD*weak D type 68 | not reported | weak D type weakened D expression | Multiple missense mutations | 1213C>G (Q405E) 165C>T | 2006 | |
weak D type 69 | RHD*01W.69 RHD*weak D type 69 | not reported | weak D type weakened D expression | Single missense mutation | 953G>A (R318Q) | 2008 | |
weak D type 7 | RHD*01W.7 RHD*weak D type 7 | CDe | weak D type weakened D expression | Single missense mutation | 1016G>A (G339E) | 1999 | 1999 |
weak D type 70 | RHD*01W.70 RHD*weak D type 70 | CDe | weak D type weakened D expression | Single missense mutation | 1012C>G (L338V) | 2008 | |
weak D type 71 | RHD*01W.71 RHD*weak D type 71 | not reported | weak D type weakened D expression | Single missense mutation | 29G>C (R10P) | 2009 | |
weak D type 72 | RHD*01W.72 RHD*weak D type 72 | not reported | weak D type weakened D expression | Single missense mutation | 1212C>A (D404E) | 2007 | |
weak D type 73 | RHD* 01W.73 RHD*weak D type 73 | not reported | weak D type weakened D expression | Single missense mutation | 1241C>T (A414V) | 2009 | |
weak D type 74 | RHD* 01W.74 RHD*weak D type 74 RHD(S68T) | not reported | weak D type weakened D expression | Single missense mutation | 203G>C (S68T) | 2009 | |
weak D type 75 | RHD* 01W.75 RHD*weak D type 75 | not reported | weak D type weakened D expression | Single missense mutation | 1194G>C (E398D) | 2010 | |
weak D type 76 | RHD* 01W.76 RHD*weak D type 76 | not reported | weak D type weakened D expression | Single missense mutation | 1215A>C (Q405H) | 2010 | |
weak D type 79 | RHD* 01W.79 RHD*weak D type 79 | not reported | weak D type weakened D expression | Single missense mutation | 560T>C (L187P) | 2012 | |
weak D type 8 | RHD*01W.8 RHD*weak D type 8 | CDe | weak D type weakened D expression | Single missense mutation | 919G>A (G307R) | 1999 | 1999 |
weak D type 80 | RHD* 01W.80 RHD*weak D type 80 | not reported | weak D type weakened D expression | Single missense mutation | 539G>A (G180E) | 2012 | |
weak D type 81 | RHD* 01W.81 RHD*weak D type 81 | CDe | weak D type weakened D expression | Single missense mutation | 1199A>C (K400T) | 2012 | |
weak D type 84 | RHD* 01W.84 RHD*weak D type 84 | CDe | weak D type weakened D expression | Single missense mutation | 227G>A (S76N) | 2013 | |
weak D type 86 | RHD* 01W.86 RHD*weak D type 86 | not reported | weak D type weakened D expression | Single missense mutation | 1034T>A (V345E) | 2014 | |
weak D type 87 | RHD* 01W.87 RHD*weak D type 87 | not reported | weak D type weakened D expression | Single missense mutation | 374T>A (I125N) | 2014 | 2015 |
weak D type 88 | RHD* 01W.88 RHD*weak D type 88 | cDE | weak D type weakened D expression | Single missense mutation | 182G>C (G61A) | 2014 | |
weak D type 9 | RHD*01W.9 RHD*weak D type 9 | cDE | weak D type weakened D expression | Single missense mutation | 880G>C (A294P) | 1999 | 1999 |
weak D type 135 | RHD* 01W.135 RHD*weak D type 135 | not reported | weak D type weakened D expression | Single missense mutation | 884T>A (M295K) | 2016 | |
weak D type 93 | RHD* 01W.93 RHD*weak D type 93 | cDE | weak D type weakened D expression | Single missense mutation | 359C>A (A120D) | 2016 | |
weak RHD(IVS4+5G>A) | CDe | weakened D expression | Splice site mutation | IVS4+5G>A | 2009 | 2013 | |
weak RHD(960G>A) | CDe | weakened D expression | Silent mutation | 960G>A | 2007 | 2015 | |
weak RHD(IVS3+3G>C) | cDE | weakened D expression | Splice site mutation | IVS3+3G>C | 2008 | 2013 | |
weak RHD(IVS6-14delTAA) | not reported | weakened D expression | Intron polymorphism | IVS6-14delTAA | 2008 | 2013 |