not reported

DesignationISBT nameClusterPhenotypeMechanismAlterationsFirst mentionDefinitive publication
D186TDIVa clusterSingle missense mutation186G>T (L62F)
2012
D674Eurasian D clusterSingle missense mutation674C>T (S225F)
20022002
DAR2.1RHD*09.02.01
RHD*DAR2.01
weak D type 4 clusterPartial DMultiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
697G>C (E233Q)
744C>T
957 G>A
DBARHD*56
RHD*DBA
Eurasian D clusterweakened D expressionSingle missense mutation680T>C (L227P)
20032004
DBO-2Eurasian D clusterweakened D expressionSilent mutation357T>C
2006
DBO-3Eurasian D clusterSingle missense mutation968C>A (P323H)
2006
DDERHD*27
RHD*DDE
Eurasian D clusterPartial DSingle missense mutation120T>A (D40E)
2007
DDNRHD*43
RHD*DDN
Eurasian D clusterPartial DSingle missense mutation490G>A (D164N)
2008
DEL RHD(A280T)RHD*01EL.24
RHD*DEL24
Eurasian D clusterDELSingle missense mutation838G>A (A280T)
20142014
DFR-5RHD*17.05
RHD*DFR5
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(3-4)
2007
DHQRHD*44
RHD*DHQ
Eurasian D clusterPartial DSingle missense mutation513C>A (H171Q)
2004
DHRRHD*22
RHD*DHR
Eurasian D clusterPartial DSingle missense mutation686G>A (R229K)
19971997
DIII type 4.2RHD*03.04.02
RHD*DII.04.02
Eurasian D clusterhybrid allele186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
DIII type 8RHD*03.08
RHD*DIII.08
DIVa clusterPartial D
D category
Multiple missense mutations410C>T (A137V)
455A>C (N152T)
2010
DIII type 9RHD*03.09
RHD*DIII.09
DIVa clusterPartial DMultiple missense mutations186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
667T>G (F223V)
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-DDIVa clusterhybrid allele1006G>T (G336C)
410C>T (A137V)
455A>C (N152T)
48G>C (W16C)
Hybrid RHCE(2)
Hybrid RHCE[245V](4-7)
2017
DIIIa150CDIVa clusterMultiple missense mutations150T>C
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
2012
DKGEurasian D clusterDEL
Partial D
large deletion25321477_25322488del
20172017
DLORHD*36
RHD*DLO
Eurasian D clusterweakened D expression
Partial D
Single missense mutation851C>T (S284L)
20032004
DNSRHD*48
RHD*DNS
Eurasian D clusterPartial DSingle missense mutation485A>G (N162S)
2006
DOL-2RHD*12.02
RHD*DOL2
weak D type 4 clusterPartial DMultiple missense mutations1132C>G (L378V)
509T>C (M170T)
667T>G (F223V)
20052009
DOL-3RHD*12.03
RHD*DOL3
weak D type 4 clusterPartial DMultiple missense mutations410C>T (A137V)
509T>C (M170T)
667T>G (F223V)
2005
DOL-4RHD*12.04
RHD*DOL4
DIVa clusterPartial Dhybrid allele410C>T (A137V)
455A>C (N152T)
509T>C (M170T)
667T>G (F223V)
DTORHD*30
RHD*DTO
weak D type 4 clusterweakened D expression
Partial D
Multiple missense mutations667T>G (F223V)
674C>T (S225F)
20052005
DUC-1Eurasian D clusterD positive (apparently normal)Silent mutation636C>T
20052005
DUC-2RHD*37
RHD*DUC2
Eurasian D clusterD positive (apparently normal)Single missense mutation733G>C (V245L)
20052005
DV type 10RHD*05.10
RHD*DV.10
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(5-6)
DVI type 3.2RHD*06.03.02
RHD*DVI.03.02
Eurasian D clusterPartial Dhybrid allele1195G>A (A399T)
Hybrid RHCE(3-6)
DVL-1RHD*31
RHD*DVL1
Eurasian D clusterPartial DIn frame deletion684delGAG (229delR)
20042006
DVL-2RHD*32
RHD*DVL2
Eurasian D clusterPartial D
weakened D expression
In frame deletion705delGAA (235delK)
20062006
RHCE(5:697-5:744)-RHDEurasian D clusterPartial D
weakened D expression
hybrid alleleHybrid RHCE(5:697-5:744)
20182018
RHCE-D(3[361del11]-10)Eurasian D clusterD negativeComplex changes361delTTGTCGGTGCT
Hybrid RHCE(1-2)
RHD delEx3 type 1Eurasian D clusterlarge deletion335+649del10625
2017
RHD(-115A>C)Eurasian D clusterweakened D expressionPromoter mutation-115A>C
RHD(1026C>T)Eurasian D clusterD negativeSilent mutation1026C>T (I342I)
20152015
RHD(1026insAC)Eurasian D clusterShort insertion1026insAC
2014
RHD(1056C>G)Eurasian D clusterweakened D expressionSplice site mutation1056C>G (V352V)
2017
RHD(1067insA)Eurasian D clusterShort insertion1067insA
2017
RHD(1080del10)RHD*01N.36Eurasian D clusterD negativeShort deletion1080del10
2010
RHD(1166delA)Eurasian D clusterShort deletion1166delA
2013
RHD(1174delA)RHD*01N.66Eurasian D clusterShort deletion1174delA
RHD(1209delT)Eurasian D clusterShort deletion1209delT
2014
RHD(1228-2del21)RHD*01N.44Eurasian D clusterD negativeShort deletionIVS9-2del21
2014
RHD(124delAA)RHD*01N.65Eurasian D clusterShort deletion124delAA
RHD(142delM)RHD*01N.74
RHD*424_426delATG
Eurasian D clusterD negativeIn frame deletion424delATG (142delM)
RHD(147A>G)Eurasian D clusterSilent mutation147A>G (Q49Q)
20112012
DAU-0.2RHD*10.00.02
RHD*DAU0.02
Eurasian D clusterComplex changes1136C>T (T379M)
150T>C
RHD(165C>T)Eurasian D clusterD positive (apparently normal)
weakened D expression
Silent mutation165C>T
RHD(208delinsTG)Eurasian D clusterD negativeShort insertion208delinsTG
2017
RHD(255G>A, 1227G>A,)Eurasian D clusterSingle missense mutation1227G>A
255G>A (A85A)
2017
RHD(26dupL)Eurasian D clusterweakened D expressionIn frame insertion75dupTCT (26insL)
20112011
RHD(27del13)Eurasian D clusterShort deletion27del13
2012
RHD(297del23)RHD*01N.37Eurasian D clusterD negativeShort deletion297del23
2013
RHD(29del14)Eurasian D clusterweakened D expressionShort deletion29dellGGCGCTGCCTGCCC
20122012
RHD(330delGT)RHD*01N.35Eurasian D clusterD negativeShort deletion330delGT
20072007
RHD(356de11)Eurasian D clusterShort deletion356del11
2012
RHD(384T>C)Eurasian D clusterSilent mutation384T>C
RHD(396insGG)Eurasian D clusterShort insertion396insGG
2016
RHD(510insG)Eurasian D clusterShort insertion510insG
2015
RHD(53dekT)Eurasian D clusterSingle missense mutation53dekT
2016
RHD(581insG)RHD*01N.75
RHD*581_582insG
Eurasian D clusterShort insertion581insG
RHD(60L,S230I)RHD*60Eurasian D clusterSingle missense mutation178A>C (I60L)
689G>T (S230I)
RHD(652delA 653T>G)RHD*01N.17Eurasian D clusterD negativeSubstitution with frameshift652delA 653T>G
2006
RHD(683del16)Eurasian D clusterShort deletion683del16
2013
RHD(697delG)RHD*01N.82
RHD*697delG
Eurasian D clusterD negativeShort deletion697delG
RHD(702delG)RHD*01N.83
RHD*702delG
Eurasian D clusterD negativeShort deletion702delG
2017
RHD(79delCTC)Eurasian D clusterIn frame deletion79delCTC
2016
RHD(822delG)RHD*01N.48Eurasian D clusterD negativeShort deletion822delG
2014
RHD(843G>T)Eurasian D clusterSilent mutation843G>T
2017
RHD(915delC)RHD*01N.49Eurasian D clusterD negativeShort deletion915delC
20142014
RHD(9393A>C)Eurasian D clusterSplice site mutationIVS6+3A>C
2017
RHD(939G>C)Eurasian D clusterSplice site mutation939G>C
2017
RHD(950delA)RHD*01N.51Eurasian D clusterD negativeShort deletion950delA
2012
RHD(993delC)RHD*01EL.28
RHD*DEL28
Eurasian D clusterShort deletion993delC
2014
weak D type 116RHD* 01W.116
RHD*weak D type 116
Eurasian D clusterweakened D expression
weak D type
Single missense mutation346G>C (A116P)
20152015
weak D type 117RHD* 01W.117
RHD*weak D type 117
Eurasian D clusterweakened D expression
weak D type
Single missense mutation346G>A (A116T)
2015
weak D type 118RHD* 01W.118
RHD*weak D type 118
Eurasian D clusterweakened D expression
weak D type
Single missense mutation347C>T (A116V)
2010
RHD(A137V,N152T)-CE(4-6)-D(7-10)DIVa clusterhybrid allele410C>T (A137V)
455A>C (N152T)
Hybrid RHCE(4-6)
2016
RHD(A176T)Eurasian D clusterSingle missense mutation526G>A (A176T)
20152015
RHD(A209V)Eurasian D clusterD positive (no further data)Single missense mutation626C>T (A209V)
20112012
RHD(A237D)Eurasian D clusterSingle missense mutation710C>A (A237D)
2010
weak D type 155Eurasian D clusterweakened D expression
weak D type
Single missense mutation710C>T (A237V)
20162018
weak D type 121RHD* 01W.121
RHD*weak D type 121
Eurasian D clusterweakened D expression
weak D type
Single missense mutation176C>A (A59D)
2015
weak D type 151Eurasian D clusterweak D typeSingle missense mutation175G>A (A59T)
20182018
RHD(D164E)RHD*61Eurasian D clusterPartial DSingle missense mutation492C>A (D164E)
RHD(D350H)Eurasian D clusterSingle missense mutation1048G>C (D350H)
2013
RHD(D35E,A399T)Eurasian D clusterweakened D expressionMultiple missense mutations105C>G (D35E)
1195G>A (A399T)
20162016
weak D type 128RHD* 01W.128
RHD*weak D type 128
Eurasian D clusterweakened D expression
weak D type
Single missense mutation1207G>T (D403Y)
2015
RHD(D40G)Eurasian D clusterSingle missense mutation119A>G (D40G)
2016
RHD(D53Y)RHD* 01W.104
RHD*weak D type 104
Eurasian D clusterweakened D expressionSingle missense mutation157G>T (D53Y)
2015
RHD(D95G)Eurasian D clusterweakened D expressionSingle missense mutation284A>G (D95G)
20072007
weak D type 146Eurasian D clusterweakened D expression
weak D type
Single missense mutation438G>C (E146D)
20112014
weak D type 147Eurasian D clusterweakened D expression
weak D type
Single missense mutation436G>A (E146K)
20122014
weak D type 101RHD* 01W.101
RHD*weak D type 101
Eurasian D clusterweakened D expression
weak D type
Single missense mutation62A>C (E21A)
2015
RHD(E340G)Eurasian D clusterSingle missense mutation1019A>G (E340G)
2013
RHD(E369K)Eurasian D clusterSingle missense mutationc.1105G>A (Glu369Lys)
2019
RHD(F175L)RHD*59Eurasian D clusterPartial DSingle missense mutation525C>A (F175L)
20122012
DAU-9RHD*10.09
RHD*DAU9
DAU clusterD positive (no further data)Multiple missense mutations1136C>T (T379M)
535T>C (F179L)
20122012
RHD(F179S)Eurasian D clusterSingle missense mutation536T>C (F179S)
2012
RHD(F223V,G278V)weak D type 4 clusterD positive (no further data)Multiple missense mutations667T>G (F223V)
833G>T (G278V)
20122012
RHD(F223V,K267M)weak D type 4 clusterMultiple missense mutations667T>G (F223V)
800A>T (K267M)
2017
weak D type 103RHD* 01W.103
RHD*weak D type 103
Eurasian D clusterweakened D expression
weak D type
Single missense mutation91T>A (F31I)
2015
weak D type 140RHD* 01W.140
RHD*weak D type 140
Eurasian D clusterweakened D expression
weak D type
Single missense mutation1229T>C (F410S)
20162016
weak D type 132.0.1Eurasian D clusterweak D typeSingle missense mutation394G>C (G132R)
2016
RHD(G151D)Eurasian D clusterSingle missense mutation452G>A (G151D)
20172017
RHD(G180R)Eurasian D clusterD positive (no further data)Single missense mutation538G>A (G180R)
20112012
weak D type 112RHD* 01W.112
RHD*weak D type 112
Eurasian D clusterweakened D expression
weak D type
Single missense mutation635G>A (G212D)
20152015
weak D type 111RHD* 01W.111
RHD*weak D type 111
Eurasian D clusterweakened D expression
weak D type
Single missense mutation634G>A (G212S)
2015
RHD(G255R)Eurasian D clusterSingle missense mutation763G>A (G255R)
20122012
RHD(G263L,T379M)DAU clusterMultiple missense mutations1136C>T (T379M)
787GG>TT (G263L)
2017
RHD(G263R,A399T)Eurasian D clusterMultiple missense mutations1195G>A (A399T)
787G>A (G263R)
2016
RHD(G307R)Eurasian D clusterSingle missense mutation919G>C (G307R)
2016
RHD(G308R)Eurasian D clusterSingle missense mutation922G>A (G308R)
2017
RHD(G336D)RHD*01N.80
RHD*1007A
Eurasian D clusterD negativeSingle missense mutation1007G>A (G336D)
2011
RHD(G353V)Eurasian D clusterSingle missense mutation1058G>T (G353V)
20122012
RHD(G353W,A354N)Eurasian D clusterD positive (no further data)hybrid alleleHybrid RHCE(7:1053-7:1061)
20122012
RHD(G368R)Eurasian D clusterSingle missense mutation1102G>A (G368R)
2014
RHD(G368W,D404E)Eurasian D clusterMultiple missense mutations1102G>T (G368W)
1212C>A (D404E)
2015
RHD(G381R)Eurasian D clusterSingle missense mutation1141G>C (G381R)
2017
RHD(G385D)RHD*01N.53Eurasian D clusterD negativeMissense (splice site affected)1154G>A (G385D)
20142014
RHD(G385V)Eurasian D clusterSingle missense mutation1154G>T (G385V)
2016
weak D type 152Eurasian D clusterweak D type
weakened D expression
Single missense mutation187G>T (G63C)
20182018
RHD(G96D)RHD* 01W.108
RHD*weak D type 108
Eurasian D clusterweakened D expressionSingle missense mutation287G>A (G96D)
20152015
RHD(G96R)Eurasian D clusterSingle missense mutation286G>C (G96R)
2016
RHD(H166D)Eurasian D clusterSingle missense mutation496C>G (H166D)
2016
weak D type 137RHD* 01W.137
RHD*weak D type 137
Eurasian D cluster
weak D type
Single missense mutation780C>A (H260Q)
2016
weak D type 149Eurasian D clusterweakened D expressionSingle missense mutation779A>G (H260R)
20132014
weak D type 156Eurasian D clusterD positive (no further data)Single missense mutation1190A>G (H397R)
20112012
RHD(H72P,S73C)Eurasian D clusterMultiple missense mutations215AC>CA (72H>P)
217A>T (S73C)
2016
RHD(I341N)Eurasian D clusterweakened D expressionSingle missense mutation1022T>A (I341N)
2016
RHD(I392T)Eurasian D clusterD positive (no further data)Single missense mutation1175T>C (I392T)
20112012
RHD(I60L)Eurasian D clusterSingle missense mutation178A>C (I60L)
2016
RHD(I60V,S103P,F161S,L214F)Eurasian D clusterMultiple missense mutations178A>G (I60V)
307T>C (S103P)
482T>C (F161S)
640C>T (L214F)
966T>C
2012
RHD(IVS1+1G>A)RHD*01EL.05
RHD*DEL5
Eurasian D clusterDELSplice site mutationIVS1+1G>A
2001
RHD(IVS1+5G>C)RHD*01EL.21
RHD*DEL21
Eurasian D clusterDELSplice site mutationIVS1+5G>C
2013
RHD(IVS2+1G>A)RHD*01N.24Eurasian D clusterD negativeSplice site mutationIVS2+1G>A
20072007
RHD(IVS2-2A>G)RHD*01EL.33
RHD*DEL33
Eurasian D clusterDELSplice site mutationIVS2-2A>G
20112011
RHD(IVS2-2delA)RHD*53
RHD*01EL.22
Eurasian D clusterDEL
Partial D
Short deletionIVS2-2delA
2013
RHD(IVS3+5G>A)Eurasian D clusterweakened D expressionSplice site mutationIVS3+5G>A
20072007
RHD(IVS4+1G>A)Eurasian D clusterSplice site mutationIVS4+1G>A
2012
RHD(IVS4+1G>T,1136C>T)RHD*01N.69DAU clusterD negativeSplice site mutation1136C>T (T379M)
IVS4+1G>T
RHD(IVS4+2T>A)Eurasian D clusterSplice site mutationIVS4+2T>A
2012
RHD(IVS4-2A>G)RHD*01EL.19
RHD*DEL19
Eurasian D clusterweakened D expressionSplice site mutationIVS4-2A>G
20102011
RHD(IVS5+1G>A)RHD*01N.54Eurasian D clusterD negativeSplice site mutationIVS5+1G>A
2012
RHD(IVS5+2T>A)Eurasian D clusterSplice site mutation2012
RHD(IVS5-38del tctc)RHD*01N.58Eurasian D clusterDELIntron polymorphismIVS5-38del tctc
20052005
RHD(IVS5-41delCTCT)Eurasian D clusterIntron polymorphism2012
RHD(IVS6+2T>A)RHD*01N.38Eurasian D clusterD negativeSplice site mutationIVS6+2T>A
2013
RHD(IVS6-4A>C)Eurasian D clusterweakened D expressionSplice site mutationIVS6-4A>C
2012
RHD(IVS7+1G>A)Eurasian D clusterSplice site mutationIVS7+1G>A
2016
RHD(IVS7+1G>T)RHD*01N.70Eurasian D clusterD negativeSplice site mutationIVS7+1G>T
RHD(IVS7+2T>C)RHD*01N.56Eurasian D clusterD negativeSplice site mutationIVS7+2T>C
2012
RHD(IVS7-1G>A)RHD*01N.71Eurasian D clusterSplice site mutationIVS7-1G>A
RHD(IVS7-2A>C)RHD*01N.81
RHD*1074-2C
Eurasian D clusterSplice site mutationIVS7-2A>C
2011
RHD(IVS8-31C>T)RHD*01EL.37
RHD*DEL37
Eurasian D clusterDELIntron polymorphismIVS8-31C>T
2012
RHD(IVS8-8T>A)RHD*01EL.20
RHD*DEL20
Eurasian D clusterweakened D expressionSplice site mutationIVS8-8T>A
20072007
RHD(IVS9+5G>C)Eurasian D clusterweakened D expressionSplice site mutationc.1227+5G>C
2019
RHD(K133N)Eurasian D clusterweakened D expressionSingle missense mutation399G>C (K133N)
2014
RHD(K189N,S257F)Eurasian D clusterMultiple missense mutations567G>T (K189N)
770C>T (S257F)
2016
weak D type 124RHD* 01W.124
RHD*weak D type 124
Eurasian D clusterweakened D expression
weak D type
Single missense mutation594A>T (K198N)
2015
weak D type 4.4weak D type 4 clusterweak D typeMultiple missense mutations594A>T (K198N)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
RHD(K235N)Eurasian D clusterSingle missense mutation705G>T (K235N)
2017
RHD(K267M)Eurasian D clusterSingle missense mutation800A>T (K267M)
2016
RHD(K394T)Eurasian D clusterweakened D expressionSingle missense mutationc.1181A>C (Lys394Thr)
2019
weak D type 126RHD* 01W.126
RHD*weak D type 126
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1199A>T (K400I)
2015
weak D type 127RHD* 01W.127
RHD*weak D type 127
Eurasian D clusterweakened D expression
weak D type
Single missense mutation1200A>T (K400N)
20122012
RHD(L18P)RHD*01EL.03
RHD*DEL3
Eurasian D clusterDELSingle missense mutation53T>C (L18P)
20062006
RHD(L20P)Eurasian D clusterSingle missense mutation59T>C (L20P)
2017
RHD(L214F)-CE(7)-DEurasian D clusterweakened D expression
Partial D
Single missense mutation640C>T (L214F)
Hybrid RHCE(7)
20182018
weak D type 154Eurasian D clusterweakened D expression
weak D type
Single missense mutation648G>C (L216F)
2012
RHD(L228Q)Eurasian D clusterSingle missense mutation683T>A (L228Q)
20122012
RHD(L258S)Eurasian D clusterSingle missense mutation773T>C (L258S)
2017
RHD(L297P)Eurasian D clusterSingle missense mutation890T>C (L297P)
2016
RHD(L299P)RHD*01N.79
RHD*896C
Eurasian D clusterSingle missense mutation896T>C (L299P)
2011
RHD(L378P)Eurasian D clusterSingle missense mutationc.1133T>C (Leu378Pro)
2019
weak D type 92RHD* 01W.92
RHD*weak D type 92
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1145T>C (L382P)
20142014
weak D type 10.1RHD*01W.10.1
RHD*weak D type 10.1
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1145T>C (L382P)
1177T>C (W393R)
2016
RHD(L386X)Eurasian D clusterD negativeSingle missense mutation1157T>A (L386X)
IVS5-41delCTCT
20142014
RHD(L38X)RHD*01EL.39
RHD*DEL39
Eurasian D clusterDELNonsense mutation113T>A (L38X)
2010
RHD(L390L)Eurasian D clusterweakened D expressionSilent mutation1170T>C (L390L)
20102011
weak D type 41.0.1RHD*01w.41.0.1
RHD*weak D type 41.01.
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1170T>C (L390L)
1193A>T (E398V)
2016
weak D type 139RHD* 01W.139
RHD*weak D type 139
Eurasian D cluster
weak D type
Single missense mutation1169T>C (L390P)
2016
weak D type 134RHD* 01W.134
RHD*weak D type 134
Eurasian D clusterweak D typeSingle missense mutation1168C>G (L390V)
20122012
DIVa-likeRHD*04.01.02Eurasian D clusterhybrid allele1048G>C (D350H)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
667T>G (F223V)
RHD(L81P)RHD*55Eurasian D clusterweakened D expression
Partial D
Single missense mutation242T>C (L81P)
2009
RHD(L84P)RHD*01EL.06
RHD*DEL6
Eurasian D clusterDELSingle missense mutation251T>C (L84P)
20062006
RHD(M118K,V174M)Eurasian D clusterPartial DMultiple missense mutations353T>A (M118K)
520G>A (V174M)
20172017
RHD(M155V)Eurasian D clusterSingle missense mutation463A>G (M155V)
2017
RHD(M1I)RHD*01EL.02
RHD*DEL2
Eurasian D clusterDELLoss of start codon3G>A (M1I)
20062006
RHD(M1_S2insV,T379M)DAU clusterComplex changes1136C>T (T379M)
3_4insGTG (M1_S2insV)
2008
RHD(M1V,T379M)RHD*10.15
RHD*DAU15
DAU clusterComplex changes1136C>T (T379M)
1A>G (M1?)
2008
RHD(M218I, F223V, S225F,Y269X)weak D type 4 clusterD negativeComplex changes609G>A
654G>C (M218I)
667T>G (F223V)
674C>T (S225F)
807T>G (Y269X)
2009
RHD(N135D)Eurasian D clusterSingle missense mutation403A>G (N135D)
2014
RHD(N152T,V270G)RHD*62Eurasian D clusterMultiple missense mutations455A>C (N152T)
809T>G (V270G)
2014
weak D type 148Eurasian D clusterweakened D expression
weak D type
Single missense mutation670A>G (N224D)
20132014
weak D type 125RHD* 01W.125
RHD*weak D type 125
Eurasian D clusterweakened D expression
weak D type
Single missense mutation671A>G (N224S)
2015
RHD(N240H)Eurasian D clusterSingle missense mutation718A>C (N240H)
2014
weak D type 136RHD* 01W.136
RHD*weak D type 136
Eurasian D clusterweak D typeSingle missense mutation41C>T (P14L)
2016
RHD(P221R)Eurasian D clusterSingle missense mutation662C>G (P221R)
2016
RHD(P231L)Eurasian D clusterSingle missense mutation691CC>TT (P231L)
2016
RHD(P261A)Eurasian D clusterweakened D expressionSingle missense mutation781C>G (P261A)
2017
weak D type 138RHD* 01W.138
RHD*weak D type 138
Eurasian D clusterweak D typeSingle missense mutation871C>T (P291S)
2016
RHD(P313P)Eurasian D clusterSplice site mutation939G>A
20122012
weak D type 114RHD* 01W.114
RHD*weak D type 114
Eurasian D clusterweakened D expression
weak D type
Single missense mutation968C>T (P323L)
20152015
weak D type 110RHD* 01W.110
RHD*weak D type 110
Eurasian D clusterweakened D expression
weak D type
Single missense mutation413A>G (Q138R)
20152015
RHD(Q200X)RHD*01N.59Eurasian D clusterD negativeNonsense mutation598C>T (Q200X)
2011
RHD(Q362X)RHD*01N.64Eurasian D clusterD negativeNonsense mutation1084C>T (Q362X)
RHD(Q405X)RHD*01N.60Eurasian D clusterD negativeNonsense mutation1213C>T (Q405X)
2015
RHD(Q49R)Eurasian D clusterweakened D expressionSingle missense mutation146A>G (Q49R)
2003
RHD(Q89R)Eurasian D clusterSingle missense mutation266A>G (Q89R)
2014
RHD(R10L)Eurasian D clusterSingle missense mutation29G>T (R10L)
2015
RHD(R114Q,A399T)Eurasian D clusterSingle missense mutation1195G>A (A399T)
341G>A (R114Q)
2017
DAU-8RHD*10.08
RHD*DAU8
DAU clusterD positive (no further data)Multiple missense mutations1136C>T (T379M)
340C>T (R114W)
579G>A
20122012
weak D type 122RHD* 01W.122
RHD*weak D type 122
Eurasian D clusterweakened D expression
weak D type
Single missense mutation208C>T (R70W)
2011
RHD(R71S)Eurasian D clusterD positive (no further data)Single missense mutation213A>T (R71S)
20112012
RHD(S112G)Eurasian D clusterweakened D expressionMissense (splice site affected)334A>G (S112G)
2009
RHD(S112I)RHD*01N.68Eurasian D clusterSingle missense mutation335G>T (S112I)
2012
RHD(S112T)RHD*01EL.42
RHD*DEL42
Eurasian D clusterDELMissense (splice site affected)335G>C (S112T)
IVS1-29G>C
2012
weak D type 153Eurasian D clusterweak D type
weakened D expression
Single missense mutation365C>G (S122W)
20112012
weak D type 109RHD* 01W.109
RHD*weak D type 109
Eurasian D clusterweakened D expression
weak D type
Single missense mutation376T>C (S126P)
2015
RHD(S230I)Eurasian D clusterSingle missense mutation689G>T (S230I)
2016
RHD(S230N)Eurasian D clusterSingle missense mutation689G>A (S230N)
2016
RHD(S254L,T379M)DAU clusterMultiple missense mutations1136C>T (T379M)
761C>T (S254L)
2017
weak D type 77RHD* 01W.77
RHD*weak D type 77
Eurasian D clusterweakened D expression
weak D type
Single missense mutation766T>C (S256P)
20102011
RHD(S266G,V270G)Eurasian D clusterSingle missense mutation796A>G (S266G)
809T>G (V270G)
2016
weak D type 105RHD* 01W.105
RHD*weak D type 105
Eurasian D clusterweak D type
weakened D expression
Single missense mutation200C>G (S67W)
20152015
weak D type 107RHD* 01W.107
RHD*weak D type 107
Eurasian D clusterweakened D expression
weak D type
Single missense mutation223A>T (S75C)
2015
RHD(T148R)RHD*01N.73
RHD*443G
Eurasian D clusterD negativeSingle missense mutation443C>G (T148R)
20122012
RHD(T148R,T195M)Eurasian D clusterMultiple missense mutations443C>G (T148R)
584C>T (T195M)
2017
RHD(T201R)-CE(5)-D(I342T)weak D type 4 clusterweakened D expression
Partial D
Complex changes1025T>C (I342T)
602C>G (T201R)
Hybrid RHCE(5)
20182018
RHD(T201R,F223V,G307R)weak D type 4 clusterD positive (no further data)Multiple missense mutations602C>G (T201R)
667T>G (F223V)
819G>A
919G>A (G307R)
20122012
weak D type 4.5weak D type 4 clusterweak D typeMultiple missense mutations1063G>A (G355S)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
RHD(T201R,F223V,K264N,A273A)weak D type 4 clusterMultiple missense mutations602C>G (T201R)
667T>G (F223V)
792G>T (K264N)
819G>A
2016
RHD(T201R,V270G)Eurasian D clusterMultiple missense mutations602C>G (T201R)
809T>G (V270G)
2017
RHD(T241P)RHD*01EL.45
RHD*DEL45
Eurasian D clusterSingle missense mutation721A>C (T241P)
RHD(T32N)Eurasian D clusterweakened D expressionSingle missense mutation95C>A (T32N)
20132014
weak D type 123RHD* 01W.123
RHD*weak D type 123
Eurasian D clusterweakened D expression
weakened D expression
Single missense mutation379G>T (V127L)
2015
RHD(V147M,A399T)Eurasian D clusterMultiple missense mutations1195G>A (A399T)
1195G>A (V147M)
2016
RHD(V174M,G307R)Eurasian D clusterMultiple missense mutations520G>A (V174M)
919G>A (G307R)
2017
RHD(V238L,V270G)Eurasian D clusterD positive (no further data)Multiple missense mutations712G>C (V238L)
809T>G (V270G)
20122012
RHD(V245L,G263R,K267M)Eurasian D clusterMultiple missense mutations733G>C (V245L)
744C>T
787G>A (G263R)
800A>T (K267M)
2017
RHD(V247L)Eurasian D clusterSingle missense mutation739G>C (V247L)
2017
DAU-10RHD*10.10
RHD*DAU10
DAU clusterD positive (no further data)Multiple missense mutations1136C>T (T379M)
579G>A
739G>C (V247L)
20122012
RHD(V281L)Eurasian D clusterSingle missense mutation841G>C (V281L)
2016
RHD(V306I,Y311C)Eurasian D clusterhybrid allele916G>A (V306I)
932A>G (Y311C)
2016
RHD(V319G)Eurasian D clusterSingle missense mutation956T>G (V319G)
2017
RHD(V352I)Eurasian D clusterSingle missense mutation1054G>A (V352I)
20122012
RHD(V50D)Eurasian D clusterSingle missense mutation149T>A (V50D)
2016
RHD(W185X) [c,555G>A]Eurasian D clusterD negativeNonsense mutation555G>A (W185X)
20152015
weak D type 113RHD* 01W.113
RHD*weak D type 113
Eurasian D clusterweak D type
weakened D expression
Single missense mutation874T>C (W292R)
2015
weak D type 10.2RHD*01W.10.2
RHD*weak D type 10.2
Eurasian D clusterweakened D expression
weak D type
Multiple missense mutations1177T>C (W393R)
1199A>C (K400T)
20152016
RHD(W393X)RHD*01N.76
RHD*1179A
Eurasian D clusterNonsense mutation1179G>A (W393X)
20142014
RHD(X418S)Eurasian D clusterLoss of stop codon1253A>C (X418S)
2014
RHD(Y243X)Eurasian D clusterNonsense mutation729T>A (Y243X)
2017
RHD(Y311C)Eurasian D clusterSingle missense mutation932A>G (Y311C)
20142014
RHD(Y311X)[761G]RHD*01N.63Eurasian D clusterD negativeNonsense mutation933C>G (Y311X)
RHD(Y34C)Eurasian D clusterweakened D expressionSingle missense mutation101A>G (Y34C)
20112012
RHD(Y48C)Eurasian D clusterweakened D expressionSingle missense mutation143A>G (Y48C)
20162016
RHD(del Ex8)RHD*01EL.30
RHD*DEL30
Eurasian D clusterDELlarge deletiondel Ex8
20072007
RHD(del44L)RHD*51Eurasian D clusterPartial DIn frame deletion130delCTC
20132014
RHD(delEx1)RHD*01N.67Eurasian D clusterD negativelarge deletiondelEx1
RHDex10del type 1Eurasian D clusterweakened D expression
DEL
large deletiondelEx10
20122012
RHD*5'UTR-115CEurasian D clusteruntranslated regionIVS0-115A>C
2017
RHD*745_757delRHD*01N.30Eurasian D clusterD negativeShort deletion745delGTGGTGACAGCCA
RHD-RHCE(2)-RHD(F355S)Eurasian D clusterComplex changes1063G>A (G355S)
Hybrid RHCE(2)
20122012
RHD-RHCE(2-5)-RHDEurasian D clusterDELhybrid alleleHybrid RHCE(2-5)
RHD-RHCE(3)--weak D type 4.0RHD*01N.72weak D type 4 clusterD negativehybrid allele602C>G (T201R)
667T>G (F223V)
819G>A
Hybrid RHCE(3)
RHD-RHCE(5:733-5:787)-RHDEurasian D clusterSingle missense mutationHybrid RHCE(5:733-5:787)
2016
RHD-RHCE[245V](5)-RHDEurasian D clusterhybrid alleleHybrid RHCE[245V](5)
2017
RHD-RHcE[226P](5:676-5:733)-RHDEurasian D clusterhybrid alleleHybrud RHcE[226P]/5;676-5:733
2016
RHD-cE(5-6)-DEurasian D clusterhybrid alleleHybrid RHcE[226P](5-6)
2015
RHD-ceAG.05(2)-DEurasian D clusterhybrid allele254C>G (A85G)
744C>T
Hybrid RHCE(2)
2017
RHDex10del type 2Eurasian D clusterD negativelarge deletiondel1227-2108_1254+1317
20172017
weak D type 145RHD* 01W.145
RHD*weak D type 145
Eurasian D clusterSingle missense mutation41C>G (P14R)
weak D type 18RHD*01W.18
RHD*weak D type 18
Eurasian D clusterweak D type
weakened D expression
Single missense mutation19C>T (R7W)
2000
weak D type 23RHD*01W.23
RHD*weak D type 23
Eurasian D clusterweak D type
weakened D expression
Single missense mutation634G>T (G212C)
20012001
weak D type 24RHD*01W.24
RHD*weak D type 24
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1013T>C (L338P)
20032003
weak D type 25RHD*01W.25
RHD*weak D type 25
Eurasian D clusterweak D type
weakened D expression
Single missense mutation341G>A (R114Q)
2005
weak D type 27RHD*01W.27
RHD*weak D type 27
Eurasian D clusterweak D type
weakened D expression
Single missense mutation661C>T (P221S)
2002
weak D type 28RHD*01W.28
RHD*weak D type 28
Eurasian D clusterweak D type
weakened D expression
Splice site mutation1152A>C (T384T)
2002
RHD(I60L,S68N,K198N,F223V,G314V,I342T)weak D type 4 clusterweak D type
weakened D expression
Multiple missense mutations1025T>C (I342T)
178A>C (I60L)
201G>A
203G>A (S68N)
594A>T (K198N)
667T>G (F223V)
744C>T
941G>T (G314V)
2010
weak D type 30RHD*01W.30
RHD*weak D type 30
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1018GA>AT (E340M)
2003
weak D type 34RHD*01W.34
RHD*weak D type 34
Eurasian D clusterweak D type
weakened D expression
Single missense mutation809T>A (V270E)
20032003
weak D type 35RHD*01W.35
RHD*weak D type 35
Eurasian D clusterweak D type
weakened D expression
Single missense mutation260G>A (G87D)
2003
weak D type 36RHD*01W.36
RHD*weak D type 36
Eurasian D clusterweak D type
weakened D expression
Single missense mutation842T>G (V281G)
2004
weak D type 37RHD*01W.37
RHD*weak D type 37
Eurasian D clusterweak D type
weakened D expression
Single missense mutation399G>T (K133N)
20032004
weak D type 40RHD*01W.40
RHD*weak D type 40
Eurasian D clusterweak D type
weakened D expression
Single missense mutation602C>G (T201R)
2003
weak D type 41RHD*01W.41
RHD*weak D type 41
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1193A>T (E398V)
2004
weak D type 42RHD*01W.42
RHD*weak D type 42
Eurasian D clusterweak D type
weakened D expression
Partial D
Missense (splice site affected)1226A>T (K409M)
20052005
weak D type 44RHD*01W.44
RHD*weak D type 44
Eurasian D clusterweak D type
weakened D expression
Single missense mutation728A>G (Y243C)
2004
weak D type 45RHD*01W.45
RHD*weak D type 45
Eurasian D clusterweak D type
weakened D expression
Partial D
Single missense mutation1195G>A (A399T)
2004
weak D type 45.1RHD*01w.45.1
RHDÜweak D type 45.1
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1195G>A (A399T)
818C>T (A273V)
2010
weak D type 46RHD*01W.46
RHD*weak D type 46
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1221C>A (F407L)
2004
weak D type 47RHD*01W.47
RHD*weak D type 47
Eurasian D clusterweak D type
weakened D expression
Single missense mutation340C>G (R114G)
2005
weak D type 50RHD*01W.50
RHD*weak D type 50
Eurasian D clusterweak D type
weakened D expression
Single missense mutation727T>A (Y243N)
2006
weak D type 51RHD*01W.51
RHD*weak D type 51
Eurasian D clusterweak D type
weakened D expression
hybrid alleleHybrid RHCE(4:594-4:602)
2005
weak D type 52RHD*01W.52
RHD*weak D type 52
Eurasian D clusterweak D type
weakened D expression
Single missense mutation92T>C (F31S)
2005
weak D type 56RHD*01W.56
RHD*weak D type 56
Eurasian D clusterweak D type
weakened D expression
Single missense mutation65C>A (A22E)
20072007
weak D type 57RHD*57
RHD*weak partial 57
Eurasian D clusterweak D type
weakened D expression
Partial D
Single missense mutation640C>T (L214F)
20072007
weak D type 59RHD*01W.59
RHD*weak D type 59
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1148T>C (L383P)
20072007
weak D type 60RHD*01W.60
RHD*weak D type 60
Eurasian D clusterweak D type
weakened D expression
In frame deletion1219delTTCTGG (407delFW)
20072007
weak D type 62RHD*01W.62
RHD*weak D type 62
Eurasian D clusterweak D type
weakened D expression
Single missense mutation661C>A (P221T)
2006
weak D type 63RHD*01W.63
RHD*weak D type 63
Eurasian D clusterweak D type
weakened D expression
Single missense mutation758T>A (I253N)
2007
weak D type 64RHD*01W.64
RHD*weak D type 64
Eurasian D clusterweak D type
weakened D expression
Single missense mutation881C>T (A294V)
2007
weak D type 68RHD*01W.68
RHD*weak D type 68
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1213C>G (Q405E)
165C>T
2006
weak D type 69RHD*01W.69
RHD*weak D type 69
Eurasian D clusterweak D type
weakened D expression
Single missense mutation953G>A (R318Q)
2008
weak D type 71RHD*01W.71
RHD*weak D type 71
Eurasian D clusterweak D type
weakened D expression
Single missense mutation29G>C (R10P)
2009
weak D type 72RHD*01W.72
RHD*weak D type 72
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1212C>A (D404E)
2007
weak D type 73RHD* 01W.73
RHD*weak D type 73
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1241C>T (A414V)
2009
weak D type 74RHD* 01W.74
RHD*weak D type 74
RHD(S68T)
Eurasian D clusterweak D type
weakened D expression
Single missense mutation203G>C (S68T)
2009
weak D type 75RHD* 01W.75
RHD*weak D type 75
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1194G>C (E398D)
2010
weak D type 76RHD* 01W.76
RHD*weak D type 76
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1215A>C (Q405H)
2010
weak D type 79RHD* 01W.79
RHD*weak D type 79
Eurasian D clusterweak D type
weakened D expression
Single missense mutation560T>C (L187P)
2012
weak D type 80RHD* 01W.80
RHD*weak D type 80
Eurasian D clusterweak D type
weakened D expression
Single missense mutation539G>A (G180E)
2012
weak D type 86RHD* 01W.86
RHD*weak D type 86
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1034T>A (V345E)
2014
weak D type 87RHD* 01W.87
RHD*weak D type 87
Eurasian D clusterweak D type
weakened D expression
Single missense mutation374T>A (I125N)
20142015
weak D type 135RHD* 01W.135
RHD*weak D type 135
Eurasian D clusterweak D type
weakened D expression
Single missense mutation884T>A (M295K)
2016
weak RHD(IVS6-14delTAA)Eurasian D clusterweakened D expressionIntron polymorphismIVS6-14delTAA
20082013