Eurasian D cluster

DesignationISBT nameHaplotypePhenotypeMechanismAlterationsFirst mentionDefinitive publication
D674not reportedSingle missense mutation674C>T (S225F)
20022002
DBARHD*56
RHD*DBA
not reportedweakened D expressionSingle missense mutation680T>C (L227P)
20032004
DBO-2not reportedweakened D expressionSilent mutation357T>C
2006
DBO-3not reportedSingle missense mutation968C>A (P323H)
2006
DBS-0RHD*05.03
RHD*DV.3
CDePartial Dhybrid alleleHybrid RHcE[226P](5:667-5:712)
19961996
DBS-1RHD*13.01
RHD*DBS1
cDEPartial Dhybrid alleleHybrid RHcE[226P](5:667-5:800)
20012001
DBS-2RHD*13.02
RHD*DBS2
cDEPartial Dhybrid alleleHybrid RHcE[226P](5:667-5:697)
20092012
DBT-1RHD*14.01
RHD*DBT1
CDePartial Dhybrid alleleHybrid RHCE(5-7)
19961996
DBT-2RHD*14.02
RHD*DBT2
CDePartial Dhybrid alleleHybrid RHCE(5-9)
19991999
DBURHD*41
RHD*DBU
RHD*01EL.23
cDEDEL
Partial D
hybrid alleleHybrid RHcE[226P](5-7)
20082009
DCCRHD*42
RHD*DCC
CDePartial DSingle missense mutation677C>A (A226D)
20072012
DCS-1RHD*16.01
RHD*DCS1
cDEPartial Dhybrid allele667T>G (F223V)
676G>C (A226P)
19992008
DCS-2RHD*16.02
RHD*DCS2
cDEPartial DSingle missense mutation676G>C (A226P)
20082008
DDERHD*27
RHD*DDE
not reportedPartial DSingle missense mutation120T>A (D40E)
2007
DDNRHD*43
RHD*DDN
not reportedPartial DSingle missense mutation490G>A (D164N)
2008
DEL RHD(A280T)RHD*01EL.24
RHD*DEL24
not reportedDELSingle missense mutation838G>A (A280T)
2014
DEL RHD(X418K)RHD*01EL.25
RHD*DEL25
CDeDELLoss of stop codon1252T>A (X418K)
20152015
DFLRHD*28
RHD*DFL
CDePartial DSingle missense mutation494A>G (Y165C)
20052007
DFR-1RHD*17.01
RHD*DFR1
multiplePartial Dhybrid alleleHybrid RHCE(4:505-4:514)
19951995
DFR-2RHD*17.02
RHD*DFR2
CDePartial Dhybrid alleleHybrid RHCE(4)
19971997
DFR-3RHD*17.03
RHD*DFR3
CDePartial DComplex changes539G>C (G180A)
Hybrid RHCE(4:505-4:514)
20072007
DFR-4RHD*17.04
RHD*DFR4
CDePartial Dhybrid alleleHybrid RHCE(4:505-4:509)
20092012
DFR-5RHD*17.05
RHD*DFR5
not reportedPartial Dhybrid alleleHybrid RHCE(3-4)
2007
DFWRHD*18
RHD*DFW
CDePartial DSingle missense mutation497A>C (H166P)
19982009
DHARcdePartial Dhybrid alleleHybrid RHCE(1-4)
Hybrid RHCE(6-10)
19961996
DHKRHD*05.05
RHD*DV.5
CDePartial DSingle missense mutation697G>A (E233K)
19981999
DHMiRHD*19
RHD*DHMi
cDEPartial DSingle missense mutation848C>T (T283I)
1996
DHMiicDEPartial Dhybrid allele1996
DHORHD*20
RHD*DHO
CDePartial D
weakened D expression
Single missense mutation704A>C (K235T)
20012001
DHQRHD*44
RHD*DHQ
not reportedPartial DSingle missense mutation513C>A (H171Q)
2004
DHRRHD*22
RHD*DHR
not reportedPartial DSingle missense mutation686G>A (R229K)
19971997
DIIRHD*02
RHD*DII
CDePartial D
D category
Single missense mutation1061C>A (A354D)
19971997
DIII type 4.2RHD*03.04.02
RHD*DII.04.02
not reportedhybrid allele186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
DIIIcRHD*03.03
RHD*DIIIc
CDePartial D
D category
hybrid alleleHybrid RHCE(3)
19961996
DIMRHD*34
RHD*DIM
cDEPartial D
weakened D expression
Single missense mutation854G>A (C285Y)
20002000
DIT-1CDeweakened D expressionSingle missense mutation863T>C (I288T)
2005
DIT-2CDeweakened D expressionSingle missense mutation862A>T (I288F)
2011
DIV type 3RHD*04.03
RHD* DIV.3
CDePartial D
D category
hybrid alleleHybrid RHCE(6-9)
19991999
DIV type 4RHD*04.04
RHD*DIV.4
CDePartial D
D category
hybrid alleleHybrid RHCE(7:1048-7:1061)
1998
DIV type 5RHD*04.05
RHD*DIV.5
cDEPartial D
D category
hybrid alleleHybrid RHCE(7-9)
20002000
DIVb type 2RHD*04.06
RHD* DIVb
CDePartial Dhybrid alleleHybrid RHCE(7:1048-9)
19951995
DKKRHD*45
RHD*DKK
cDEPartial Dhybrid alleleHybrid RHCE(2-3)
20002001
DLORHD*36
RHD*DLO
not reportedweakened D expression
Partial D
Single missense mutation851C>T (S284L)
20032004
DLXRHD*46
RHD*DLX
cDEPartial DComplex changes667T>G (F223V)
Hybrid RHCE(5:712-6)
20122012
DMARHD*35
RHD*DMA
cDeSingle missense mutation621G>C (L207F)
20032003
DMHRHD*23
RHD*DMH
CDePartial DMissense (splice site affected)161T>C (L54P)
1999
DMIRHD*47
RHD*DMI
CDePartial DSingle missense mutation510G>A (M170I)
20082009
DMI-1.1RHD*47.01
RHD*DMI-1.1
CDePartial DSingle missense mutation510G>T (M170I)
2010
DNAKRHD*24
RHD*DNAK
cDEPartial DSingle missense mutation1070G>A (G357D)
2005
DNBRHD*25
RHD*DNB
CDePartial DSingle missense mutation1063G>A (G355S)
20022002
DNSRHD*48
RHD*DNS
not reportedPartial DSingle missense mutation485A>G (N162S)
2006
DNTCDePartial DSingle missense mutation455A>C (N152T)
20092013
DNURHD*26
RHD*DNU
cDEPartial DSingle missense mutation1057G>A (G353R)
19971997
DUC-1not reportedD positive (apparently normal)Silent mutation636C>T
20052005
DUC-2RHD*37
RHD*DUC2
not reportedD positive (apparently normal)Single missense mutation733G>C (V245L)
20052005
DUC-3RHD*01.01CDeD positive (apparently normal)Single missense mutation48G>C (W16C)
2010
DV type 1RHD*05.01
RHD*DV.1
CDePartial D
D category
hybrid alleleHybrid RHCE(5:667-5:697)
19951995
DV type 10RHD*05.10
RHD*DV.10
not reportedPartial Dhybrid alleleHybrid RHce(5-6)
DV type 2RHD*05.02
RHD*DV.2
CDePartial D
D category
hybrid alleleHybrid RHCE(5)
19951995
DV type 4RHD*05.04
RHD*DV.4
CDePartial D
D category
Single missense mutation697G>C (E233Q)
19981999
DV type 6RHD*05.06
RHD*DV.6
CDePartial D
D category
hybrid alleleHybrid RHCE(5:667-5:712)
19981999
DV type 7RHD*05.07
RHD*DV.7
CDeD category
Partial D
hybrid alleleHybrid RHCE(5:667-5:787)
20012001
DV type 8RHD*05.08
RHD*DV.8
CDePartial D
D category
hybrid alleleHybrid RHCE(5:667-5:744)
19981999
DV type 9RHD*05.09
RHD*DV.9
CDePartial D
D category
hybrid alleleHybrid RHCE(5:697-5:712)
19992000
DVI type 1RHD*06.01
RHD*DVI.1
cDED category
Partial D
hybrid alleleHybrid RHcE[226P](4-5)
19971997
DVI type 2RHD*06.02
RHD*DVI.2
CDePartial D
D category
BARC positive
hybrid alleleHybrid RHCE(4-6)
19941994
DVI type 3RHD*06.03
RHD*DVI.3
CDePartial D
D category
BARC positive
hybrid alleleHybrid RHCE(3-6)
19981998
DVI type 3.2RHD*06.03.02
RHD*DVI.03.02
not reportedPartial Dhybrid allele1195G>A (A399T)
Hybrid RHCE(3-6)
DVI type 4RHD*06.04
RHD*DVI.4
CDePartial D
D category
hybrid alleleHybrid RHCE(3-5)
20002006
DVIIRHD*07.01
RHD*DVII.1
CDePartial D
D category
Single missense mutation329T>C (L110P)
19951995
DVII type 2RHD*07.02
RHD*DVII.2
CDePartial DMultiple missense mutations307T>C (S103P)
329T>C (L110P)
20012001
DVL-1RHD*31
RHD*DVL1
not reportedPartial DIn frame deletion684delGAG (229delR)
20042006
DVL-2RHD*32
RHD*DVL2
not reportedPartial D
weakened D expression
In frame deletion705delGAA (235delK)
20062006
DWIRHD*33
RHD*DWI
CDePartial DSingle missense mutation1073T>C (M358T)
20042004
DWNRHD*49
RHD*DWN
cDePartial Dhybrid alleleHybrid RHCE(7:1053-7:1061)
20132013
DYURHD*29
RHD*DYU
cDePartial DSingle missense mutation700A>T (R234W)
20032005
RHCE(1-3)-RHD(4-10)RHD*01N.43cDED negativehybrid alleleHybrid RHCE(1-3)
20042009
RHCE(1-9)-RHDRHD*01N.02cDED negativehybrid alleleHybrid RHCE(1-9)
20012001
RHD(-10C>T)CDeweakened D expressionuntranslated region-10C>T
2012
RHD(1026insAC)not reportedShort insertion1026insAC
2014
RHD(1065C>T)CDeweakened D expressionSilent mutation1065C>T
20142014
RHD(1080del10)RHD*01N.36not reportedD negativeShort deletion1080del10
2010
RHD(1166delA)not reportedShort deletion1166delA
2013
RHD(1174delA)RHD*01N.66not reportedShort deletion1174delA
RHD(1209delT)not reportedShort deletion1209delT
2014
RHD(1227G>A)RHD*01EL.01
RHD*DEL1
CDeDELSplice site mutation1227G>A
20012001
RHD(1228-2del21)RHD*01N.44not reportedD negativeShort deletionIVS9-2del21
2014
RHD(1248insG)RHD*01EL.26
RHD*DEL26
CDeDELShort insertion1248insG
20142014
RHD(124delAA)RHD*01N.65not reportedShort deletion124delAA
RHD(1269G>C)CDeweakened D expressionuntranslated region1269G>C
20112012
RHD(1347A>G)cDeuntranslated region1347A>G
20032003
RHD(142delM)RHD*01N.74not reportedD negativeIn frame deletion424delATG (142delM)
RHD(147A>G)not reportedSilent mutation147A>G (Q49Q)
20112012
RHD(147del A)RHD*01EL.04
RHD*DEL4
CDeDELShort deletion147del A
IVS1+6del A
20042009
RHD(IVS1+1G>T)RHD*01EL.31
RHD*DEL31
cDEDELSplice site mutationIVS1+1G>T
20142014
DAU-0.2RHD*10.00.02
RHD*DAU0.02
not reportedComplex changes1136C>T (T379M)
150T>C
RHD(165C>T)not reportedD positive (apparently normal)
weakened D expression
Silent mutation165C>T
RHD(216dupCA,1195G>A)RHD*01N.45CDeD negativeComplex changes1195G>A (A399T)
216dupCA
2012
RHD(26dupL)not reportedweakened D expressionIn frame insertion75dupTCT (26insL)
20112011
RHD(27del13)not reportedShort deletion27del13
2012
RHD(297del23)RHD*01N.37not reportedD negativeShort deletion297del23
2013
RHD(29del14)not reportedweakened D expressionShort deletion29dellGGCGCTGCCTGCCC
20122012
RHD(325delA)RHD*01N.11CDeD negativeShort deletion325del A
20072007
RHD(330delGT)RHD*01N.35not reportedD negativeShort deletion330delGT
20072007
RHD(343del C)RHD*01N.23CDeD negativeShort deletion343del C
20042009
RHD(356de11)not reportedShort deletion356del11
2012
RHD(361del11)RHD*01N.41CDeD negativeShort deletion361delTTGTCGGTGCT
20122012
RHD(384T>C)not reportedSilent mutation384T>C
RHD(396insGG)not reportedShort insertion396insGG
2016
RHD(449del T)RHD*01N.12CDeD negativeShort deletion449del T
2004
RHD(489delAGAC)RHD*01N.13CDeD negativeShort deletion487del ACAG
19981998
RHD(510insG)not reportedShort insertion510insG
2015
RHD(519C>T)CDeweakened D expressionSilent mutation519C>T
2013
RHD(545delCTGT)RHD*01N.46cDeD negativeShort deletion545delCTGT
20122012
RHD(576C>T)CDeweakened D expressionSilent mutation576C>T
2011
RHD(581insG)RHD*01N.75not reportedShort insertion581insG
RHD(60L,S230I)RHD*60not reportedSingle missense mutation178A>C (I60L)
689G>T (S230I)
RHD(615delCA)RHD*01N.34CDeD negativeShort deletion615delCA
20092012
RHD(652delA 653T>G)RHD*01N.17not reportedD negativeSubstitution with frameshift652delA 653T>G
2006
RHD(660delG)RHD*01N.29
RHD*01N.78
CDeD negativeShort deletion660delG
20082009
RHD(683del16)not reportedShort deletion683del16
2013
RHD(711del C)RHD*01N.16CDeD negativeShort deletion711del C
20022002
RHD(712delG)RHD*01N.33CDeD negativeShort deletion712delG
20082009
RHD(745del13)RHD*01N.47CDeD negativeShort deletion745delGTGGTGACAGCCA
758TC>AG
2008
RHD(786del A)RHD*01EL.13
RHD*DEL13
CDeD negativeShort deletion786del A
20042009
RHD(78delC)RHD*01N.32CDeD negativeShort deletion78delC
20092010
RHD(822delG)RHD*01N.48not reportedD negativeShort deletion822delG
2014
RHD(909ins TGGCT, IVS6+2del TAAG)RHD*01N.27CDeD negativeComplex changes909ins TGGCT
IVS6+2del TAAG
20022002
RHD(915delC)RHD*01N.49not reportedD negativeShort deletion915delC
20142014
RHD(93delC)RHD*01N.31not reportedShort deletion93delC
RHD(93insT)RHD*01EL.18
RHD*DEL18
RHD*01N.50
CDeDEL
D negative
Short insertion93insT
20082008
RHD(950delA)RHD*01N.51not reportedD negativeShort deletion950delA
2012
RHD(970delCAC,976delTCCATCATGGGCTACA)RHD*01N.28CDeD negativeShort deletion970delCAC
976delTCCATCATGGGCTACA
20082009
RHD(993delC)RHD*01EL.28
RHD*DEL28
not reportedDELShort deletion993delC
2014
weak D type 116RHD* 01W.116
RHD*weak D type 116
not reportedweakened D expression
weak D type
Single missense mutation346G>C (A116P)
20152015
weak D type 117RHD* 01W.117
RHD*weak D type 117
not reportedweakened D expression
weak D type
Single missense mutation346G>A (A116T)
2015
weak D type 118RHD* 01W.118
RHD*weak D type 118
not reportedweakened D expression
weak D type
Single missense mutation347C>T (A116V)
2010
RHD(A137E)RHD*01EL.07
RHD*DEL7
CDeDELSingle missense mutation410C>A (A137E)
20062009
RHD(A209V)not reportedD positive (no further data)Single missense mutation626C>T (A209V)
20112012
RHD(A237D)not reportedSingle missense mutation710C>A (A237D)
2010
weak D type 89RHD* 01W.89
RHD*weak D type 89
CDeweak D type
weakened D expression
Multiple missense mutations67G>C (A23P)
20142014
RHD(A23S)CDeweakened D expressionSingle missense mutation67G>T (A23S)
2016
weak D type 95RHD* 01W.95
RHD*weak D type 95
cDEweak D type
weakened D expression
Single missense mutation730G>C (A244P)
20132013
weak D type 96RHD* 01W.96
RHD*weak D type 96
cDeweak D type
weakened D expression
Single missense mutation731C>T (A244V)
20132013
weak D type 120RHD* 01W.120
RHD*weak D type 120
CDeweakened D expression
weak D type
Single missense mutation818C>A (A273E)
2010
weak D type 119RHD* 01W.119
RHD*weak D type 119
CDeweakened D expression
weak D type
Single missense mutation818C>T (A273V)
2010
RHD(A354T)RHD*50CDePartial DSingle missense mutation1060G>A (A354T)
20142014
weak D type 82RHD* 01W.82
RHD*weak D type 82
CDeweak D type
weakened D expression
Single missense mutation1184C>T (A395V)
2012
RHD(A58V)CDeweakened D expressionSingle missense mutation173C>T (A58V)
2015
weak D type 121RHD* 01W.121
RHD*weak D type 121
not reportedweakened D expression
weak D type
Single missense mutation176C>A (A59D)
2015
weak D type 131RHD* 01W.131
RHD*weak D type 131
CDeweakened D expression
weak D type
Single missense mutation254C>G (A85G)
20122012
RHD(D164E)RHD*61not reportedPartial DSingle missense mutation492C>A (D164E)
RHD(D350H)not reportedSingle missense mutation1048G>C (D350H)
2013
RHD(D35E,A399T)not reportedweakened D expressionMultiple missense mutations105C>G (D35E)
1195G>A (A399T)
20162016
weak D type 129RHD* 01W.129
RHD*weak D type 129
CDeweakened D expression
weak D type
Single missense mutation1208A>T (D403V)
20122012
weak D type 128RHD* 01W.128
RHD*weak D type 128
not reportedweakened D expression
weak D type
Single missense mutation1207G>T (D403Y)
2015
RHD(D404H)RHD*01EL.29
RHD*DEL29
cDEDELSingle missense mutation1210G>C (D404H)
2012
RHD(D40G)not reportedSingle missense mutation119A>G (D40G)
2016
RHD(D53Y)RHD* 01W.104
RHD*weak D type 104
not reportedweakened D expressionSingle missense mutation157G>T (D53Y)
2015
RHD(D95G)not reportedweakened D expressionSingle missense mutation284A>G (D95G)
20072007
RHD(E146D)not reportedweakened D expressionSingle missense mutation438G>C (E146D)
2011
RHD(E146K)not reportedweakened D expressionSingle missense mutation436G>A (E146K)
2012
RHD(E193D)CDeweakened D expressionSingle missense mutation579G>C (E193D)
2016
weak D type 101RHD* 01W.101
RHD*weak D type 101
not reportedweakened D expression
weak D type
Single missense mutation62A>C (E21A)
2015
RHD(E340G)not reportedSingle missense mutation1019A>G (E340G)
2013
weak D type 99RHD* 01W.99
RHD*weak D type 99
CDeweak D type
weakened D expression
Single missense mutation1107A>C (E369D)
20132013
RHD(F161C)CDeweakened D expressionSingle missense mutation482T>G (F161C)
2015
RHD(F179L)CDeD positive (no further data)Single missense mutation537T>G (F179L)
2012
RHD(F179S)not reportedSingle missense mutation536T>C (F179S)
2012
RHD(F223S)RHD*52cDePartial D
weakened D expression
Single missense mutation668T>C (F223S)
20152016
weak D type 103RHD* 01W.103
RHD*weak D type 103
not reportedweakened D expression
weak D type
Single missense mutation91T>A (F31I)
2015
RHD(F31L)CDeDELSingle missense mutation93T>A (F31L)
20142014
RHD(F410S)not reportedweakened D expressionSingle missense mutation1229T>C (F410S)
20162016
weak D type 78RHD* 01W.78
RHD*weak D type 78
CDeweakened D expression
weak D type
Missense (splice site affected)1228T>G (F410V)
20092011
weak D type 133RHD* 01W.133
RHD*weak D type 133
CDeweakened D expression
weak D type
Single missense mutation395G>A (G132E)
20122012
weak D type 132RHD* 01W.132
RHD*weak D type 132
CDeweakened D expression
weak D type
Single missense mutation394G>A (G132R)
20102012
weak D type 132.0.1not reportedweak D typeSingle missense mutation394G>C (G132R)
2016
RHD(G180R)not reportedD positive (no further data)Single missense mutation538G>A (G180R)
20112012
weak D type 112RHD* 01W.112
RHD*weak D type 112
not reportedweakened D expression
weak D type
Single missense mutation635G>A (G212D)
20152015
RHD(G212R)RHD*01EL.16
RHD*DEL16
cDeDELMissense (splice site affected)634G>C (G212R)
20082009
weak D type 111RHD* 01W.111
RHD*weak D type 111
not reportedweakened D expression
weak D type
Single missense mutation634G>A (G212S)
2015
RHD(G212V)RHD*01N.15CDeD negativeMissense (splice site affected)635G>T (G212V)
20012001
RHD(G255R)not reportedSingle missense mutation763G>A (G255R)
2012
weak D type 100RHD* 01W.100
RHD*weak D type 100
CDeweak D type
weakened D expression
Missense (splice site affected)787G>A (G263R)
2010
RHD(G307R)not reportedSingle missense mutation919G>C (G307R)
2016
RHD(G308X)RHD*01EL.15
RHD*DEL15
RHD*01N.52
CDeD negativeNonsense mutation922G>T (G308X)
2010
RHD(G314V)RHD*01N.20CDeD negativeMissense (splice site affected)941G>T (G314V)
19971997
RHD(G336D)RHD*01N.80not reportedD negativeSingle missense mutation1007G>A (G336D)
2011
RHD(G353V)not reportedSingle missense mutation1058G>T (G353V)
2012
RHD(G353W,A354N)not reportedD positive (no further data)hybrid alleleHybrid RHCE(7:1053-7:1061)
20122012
RHD(G368R)not reportedSingle missense mutation1102G>A (G368R)
2014
RHD(G368W,D404E)not reportedMultiple missense mutations1102G>T (G368W)
1212C>A (D404E)
2015
RHD(G385D)RHD*01N.53not reportedD negativeMissense (splice site affected)1154G>A (G385D)
20142014
RHD(G96D)RHD* 01W.108
RHD*weak D type 108
not reportedweakened D expressionSingle missense mutation287G>A (G96D)
20152015
RHD(G96S)CDeweakened D expressionSingle missense mutation286G>A (G96S)
2005
RHD(H166D)not reportedSingle missense mutation496C>G (H166D)
2016
RHD(H171D)CDeD positive (no further data)Single missense mutation511C>G (H171D)
2012
weak D type 137not reported
weak D type
Single missense mutation780C>A (H260Q)
2016
RHD(H260R)not reportedweakened D expressionSingle missense mutation779A>G (H260R)
2013
RHD(H397R)not reportedD positive (no further data)Single missense mutation1190A>G (H397R)
20112012
weak D type 102RHD* 01W.102
RHD*weak D type 102
multipleweakened D expression
weak D type
Single missense mutation73A>T (I25F)
2016
RHD(I341N)not reportedweakened D expressionSingle missense mutation1022T>A (I341N)
2016
RHD(I392T)not reportedD positive (no further data)Single missense mutation1175T>C (I392T)
20112012
RHD(I60V,S103P,F161S,L214F)not reportedMultiple 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
not reportedDELSplice site mutationIVS1+1G>A
2001
RHD(IVS1+5G>C)RHD*01EL.21
RHD*DEL21
not reportedDELSplice site mutationIVS1+5G>C
2013
RHD(IVS1-29G>C)RHD*01EL.32
RHD*DEL32
CDeDELIntron polymorphismIVS1-29G>C
2012
RHD(IVS2+1G>A)RHD*01N.24not reportedD negativeSplice site mutationIVS2+1G>A
20072007
RHD(IVS2-1G>A)RHD*01N.25CDeD negativeSplice site mutationIVS2-1G>A
20052005
RHD(IVS2-2A>G)RHD*01EL.33
RHD*DEL33
not reportedDELSplice site mutationIVS2-2A>G
20112011
RHD(IVS2-2delA)RHD*53
RHD*01EL.22
not reportedDEL
Partial D
Short deletionIVS2-2delA
2013
RHD(IVS3+1G>A)RHD*01EL.08
RHD*DEL8
CDeDEL
D negative
Splice site mutationIVS3+1G>A
20012001
RHD(IVS3+2T>A)RHD*01EL.09
RHD*DEL9
cDED negativeSplice site mutationIVS3+2T>A
20082009
RHD(IVS3+5G>A)not reportedweakened D expressionSplice site mutationIVS3+5G>A
20072007
RHD(IVS4+1G>A)not reportedSplice site mutationIVS4+1G>A
2012
RHD(IVS4+2T>A)not reportedSplice site mutationIVS4+2T>A
2012
RHD(IVS4+5G>T)RHD*01EL.14
RHD*DEL14
not reportedweakened D expressionSplice site mutationIVS4+5G>T
2010
RHD(IVS4-2A>C)RHD*54cDEPartial DSplice site mutationIVS4-2A>C
20142014
RHD(IVS4-2A>G)RHD*01EL.19
RHD*DEL19
not reportedweakened D expressionSplice site mutationIVS4-2A>G
20102011
RHD(IVS5+1G>A)RHD*01N.54not reportedD negativeSplice site mutationIVS5+1G>A
2012
RHD(IVS5+2T>A)not reportedSplice site mutation2012
RHD(IVS5-38del tctc)RHD*01N.58not reportedDELIntron polymorphismIVS5-38del tctc
20052005
RHD(IVS5-41delCTCT)not reportedIntron polymorphism2012
RHD(IVS6+1G>A)RHD*01N.55CDeD negativeSplice site mutationIVS6+1G>A
20142014
RHD(IVS6+2T>A)RHD*01N.38not reportedD negativeSplice site mutationIVS6+2T>A
2013
RHD(IVS6-4A>C)not reportedweakened D expressionSplice site mutationIVS6-4A>C
2012
RHD(IVS7+152C>A,1227G>A)RHD*01EL.36
RHD*DEL36
CDeDELSplice site mutation1227G>A
IVS7+152C>A
20022002
RHD(IVS7+1G>T)RHD*01N.70not reportedD negativeSplice site mutationIVS7+1G>T
RHD(IVS7+2T>C)RHD*01N.56not reportedD negativeSplice site mutationIVS7+2T>C
2012
RHD(IVS7-1G>A)RHD*01N.71not reportedSplice site mutationIVS7-1G>A
RHD(IVS7-2A>C)RHD*01N.81not reportedSplice site mutationIVS7-2A>C
2011
RHD(IVS8+1G>A)RHD*01N.26CDeD negativeSplice site mutationIVS8+1G>A
20012001
RHD(IVS8+6T>C)cDEweakened D expressionSplice site mutation2012
RHD(IVS8-31C>T)RHD*01EL.37
RHD*DEL37
not reportedDELIntron polymorphismIVS8-31C>T
2012
RHD(IVS8-8T>A)RHD*01EL.20
RHD*DEL20
not reportedweakened D expressionSplice site mutationIVS8-8T>A
20072007
RHD(IVS9-1G>A)RHD*01N.77CDeSplice site mutationIVS9-1G>A
20142014
RHD(K133N)not reportedweakened D expressionSingle missense mutation399G>C (K133N)
2014
weak D type 124RHD* 01W.124
RHD*weak D type 124
not reportedweakened D expression
weak D type
Single missense mutation594A>T (K198N)
2015
weak D type 126RHD* 01W.126
RHD*weak D type 126
not reportedweak D type
weakened D expression
Single missense mutation1199A>T (K400I)
2015
weak D type 127RHD* 01W.127
RHD*weak D type 127
not reportedweakened D expression
weak D type
Single missense mutation1200A>T (K400N)
2012
RHD(L153P)RHD*01EL.12
RHD*DEL12
cDEDELSingle missense mutation458T>C (L153P)
20042009
weak D type 97RHD* 01W.97
RHD*weak D type 97
CDeweak D type
weakened D expression
Single missense mutation542T>C (L181P)
20132013
RHD(L18P)RHD*01EL.03
RHD*DEL3
not reportedDELSingle missense mutation53T>C (L18P)
20062006
RHD(L216F)not reportedSingle missense mutation648G>C (L216F)
2012
RHD(L228Q)not reportedSingle missense mutation683T>A (L228Q)
2012
RHD(L299P)RHD*01N.79not reportedSingle missense mutation896T>C (L299P)
2011
RHD(L337R)RHD*01EL.38
RHD*DEL38
RHD*01N.57
CDeD negative
DEL
Single missense mutation1010T>G (L337R)
20142014
RHD(L370L)CDeweakened D expressionSilent mutation1110C>T (L370L)
2009
weak D type 92RHD* 01W.92
RHD*weak D type 92
not reportedweak 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
not reportedweak D type
weakened D expression
Multiple missense mutations1145T>C (L382P)
1177T>C (W393R)
2016
RHD(L386X)not reportedD negativeSingle missense mutation1157T>A (L386X)
IVS5-41delCTCT
20142014
RHD(L38X)RHD*01EL.39
RHD*DEL39
not reportedDELNonsense mutation113T>A (L38X)
2010
RHD(L390L)not reportedweakened D expressionSilent mutation1170T>C (L390L)
20102011
weak D type 41.0.1RHD*01w.41.0.1
RHD*weak D type 41.01.
not reportedweak D type
weakened D expression
Complex changes1170T>C (L390L)
1193A>T (E398V)
2016
weak D type 139not reported
weak D type
Single missense mutation1169T>C (L390P)
2016
weak D type 134RHD* 01W.134
RHD*weak D type 134
not reportedweak D typeSingle missense mutation1168C>G (L390V)
2012
weak D type 83RHD* 01W.83
RHD*weak D type 83
cDEweakened D expressionSingle missense mutation1238T>G (L413W)
2012
DIVa-likeRHD*04.01.02not reportedhybrid allele1048G>C (D350H)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
667T>G (F223V)
RHD(L81P)RHD*55not reportedweakened D expression
Partial D
Single missense mutation242T>C (L81P)
2009
RHD(L84P)RHD*01EL.06
RHD*DEL6
not reportedDELSingle missense mutation251T>C (L84P)
20062006
RHD(L93R)RHD*01EL.40
RHD*DEL40
CDeDELSingle missense mutation278T>G (L93R)
20142014
RHD(M1I)RHD*01EL.02
RHD*DEL2
not reportedDELLoss of start codon3G>A (M1I)
20062006
RHD(M1T)cDELoss of start codon2T>C (M1T)
20152015
RHD(M295I)RHD*11
RHD*weak partial 11
CDeDEL
Partial D
Single missense mutation885G>T (M295I)
20012001
weak D type 94RHD* 01W.94
RHD*weak D type 94
RHD*01EL.46
CDeweak D type
weakened D expression
Single missense mutation884T>C (M295T)
20122013
weak D type 115RHD* 01W.115
RHD*weak D type 115
CDeweakened D expression
weak D type
Single missense mutation983T>A (M328K)
20152015
RHD(N135D)not reportedSingle missense mutation403A>G (N135D)
2014
RHD(N152T,V270G)RHD*62not reportedMultiple missense mutations455A>C (N152T)
809T>G (V270G)
2014
RHD(N224D)not reportedweakened D expressionSingle missense mutation670A>G (N224D)
2013
weak D type 125RHD* 01W.125
RHD*weak D type 125
not reportedweakened D expression
weak D type
Single missense mutation671A>G (N224S)
2015
RHD(N240H)not reportedSingle missense mutation718A>C (N240H)
2014
weak D type 90RHD* 01W.90
RHD*weak D type 90
CDeweak D type
weakened D expression
Single missense mutation993C>G (N331K)
20142014
weak D type 136not reportedweak D typeSingle missense mutation41C>T (P14L)
2016
RHD(P221R)not reportedSingle missense mutation662C>G (P221R)
2016
RHD(P231L)not reportedSingle missense mutation691CC>TT (P231L)
2016
RHD(P291R)RHD*01EL.41
RHD*DEL41
CDeDELSingle missense mutation872C>G (P291R)
2012
weak D type 138not reportedweak D typeSingle missense mutation871C>T (P291S)
2016
RHD(P313P)not reportedSplice site mutation939G>A
2012
RHD(P313T)CDeweakened D expressionSingle missense mutation937C>A (P313T)
2015
weak D type 114RHD* 01W.114
RHD*weak D type 114
not reportedweakened D expression
weak D type
Single missense mutation968C>T (P323L)
20152015
weak D type 91RHD* 01W.91
RHD*weak D type 91
CDeweak D type
weakened D expression
Single missense mutation1187C>G (P396R)
20142014
weak D type 110RHD* 01W.110
RHD*weak D type 110
not reportedweakened D expression
weak D type
Single missense mutation413A>G (Q138R)
20152015
RHD(Q200X)RHD*01N.59not reportedD negativeNonsense mutation598C>T (Q200X)
2011
RHD(Q362X)RHD*01N.64not reportedD negativeNonsense mutation1084C>T (Q362X)
RHD(Q405X)RHD*01N.60not reportedD negativeNonsense mutation1213C>T (Q405X)
2015
RHD(Q41X)RHD*01N.09CDeD negativeNonsense mutation121C>T (Q41X)
643T>C (F215L)
646T>C
988T>C (Y330H)
19971997
RHD(Q49R)not reportedweakened D expressionSingle missense mutation146A>G (Q49R)
2003
RHD(Q89R)not reportedSingle missense mutation266A>G (Q89R)
2014
RHD(R10L)not reportedSingle missense mutation29G>T (R10L)
2015
RHD(R318X)RHD*01N.61CDeD negativeNonsense mutation952C>T (R318X)
20082009
weak D type 85RHD* 01W.85
RHD*weak D type 85
CDeweak D type
weakened D expression
Single missense mutation209G>A (R70Q)
2010
weak D type 122RHD* 01W.122
RHD*weak D type 122
not reportedweakened D expression
weak D type
Single missense mutation208C>T (R70W)
2011
weak D type 45.2RHD*01w.45.2
RHDÜweak D type 45.2
CDeweak D type
weakened D expression
Multiple missense mutations1195G>A (A399T)
208C>T (R70W)
818C>T (A273V)
20132013
RHD(R71S)not reportedD positive (no further data)Single missense mutation213A>T (R71S)
20112012
RHD(S103P)RHD*39cDEPartial DSingle missense mutation307T>C (S103P)
19961996
RHD(S112G)not reportedweakened D expressionMissense (splice site affected)334A>G (S112G)
2009
RHD(S112I)RHD*01N.68not reportedSingle missense mutation335G>T (S112I)
2012
RHD(S112T)RHD*01EL.42
RHD*DEL42
not reportedDELMissense (splice site affected)335G>C (S112T)
IVS1-29G>C
2012
RHD(S122W)not reportedD positive (no further data)Single missense mutation365C>G (S122W)
20112012
weak D type 109RHD* 01W.109
RHD*weak D type 109
not reportedweakened D expression
weak D type
Single missense mutation376T>C (S126P)
2015
RHD(S254X)RHD*01N.62CDeD negativeNonsense mutation761C>G (S254X)
20152015
weak D type 77RHD* 01W.77
RHD*weak D type 77
not reportedweakened D expression
weak D type
Single missense mutation766T>C (S256P)
20102011
RHD(S256X)RHD*01N.39CDeD negativeNonsense mutation767C>G (S256X)
20122013
weak D type 3.1RHD*01W.3.1
RHD*weak D type 3.1
CDeweak D type
weakened D expression
Multiple missense mutations178A>C (I60L)
8C>G (S3C)
20142014
weak D type 105RHD* 01W.105
RHD*weak D type 105
not reportedweak D type
weakened D expression
Single missense mutation200C>G (S67W)
20152015
RHD(S68T)-RHCe(3-9)-RHDRHD*01N.04CDeD negativehybrid allele203G>C (S68T)
Hybrid RHCE(3-9)
20052005
weak D type 107RHD* 01W.107
RHD*weak D type 107
not reportedweakened D expression
weak D type
Single missense mutation223A>T (S75C)
2015
RHD(T148R)RHD*01N.73not reportedD negativeSingle missense mutation443C>G (T148R)
2012
RHD(T241P)RHD*01EL.45
RHD*DEL45
not reportedSingle missense mutation721A>C (T241P)
weak D type 98RHD* 01W.98
RHD*weak D type 98
cDEweak D type
weakened D expression
Single missense mutation751A>C (T251P)
20132013
RHD(T32N)not reportedweakened D expressionSingle missense mutation95C>A (T32N)
2013
weak D type 130RHD* 01W.130
RHD*weak D type 130
CDeweakened D expression
weak D type
Single missense mutation163A>C (T55P)
20112012
weak D type 123RHD* 01W.123
RHD*weak D type 123
not reportedweakened D expression
weakened D expression
Single missense mutation379G>T (V127L)
2015
RHD(V174M,V306I)cDeMultiple missense mutations520G>A (V174M)
916G>A (V306I)
2012
RHD(V238L,V270G)not reportedD positive (no further data)Multiple missense mutations712G>C (V238L)
809T>G (V270G)
20122012
weak D type 1.2RHD*01w.1.2
RHD*weak D type 1.2
CDeweak D type
weakened D expression
Multiple missense mutations712G>A (V238M)
809T>G (V270G)
20142014
RHD(V281L)not reportedSingle missense mutation841G>C (V281L)
2016
weak D type 2.2RHD*01W.2.2
RHD*weak D type 2.2
cDEweak D type
weakened D expression
Multiple missense mutations1154G>C (G385A)
916G>A (V306I)
932A>G (Y311C)
20142014
RHD(V352I)not reportedSingle missense mutation1054G>A (V352I)
2012
RHD(V50D)not reportedSingle missense mutation149T>A (V50D)
2016
RHD(V56M,W90X)CDeD negative
D negative
Nonsense mutation166G>A (V56M)
270G>A (W90X)
20082009
RHD(W16R)RHD*01EL.43
RHD*DEL43
cDEDELSingle missense mutation46T>C (W16R)
2012
RHD(W16X)RHD*01N.08CDeD negativeNonsense mutation48G>A (W16X)
20012001
RHD(W185X)RHD*01N.14CDeD negativeNonsense mutation554G>A (W185X)
20052005
weak D type 113RHD* 01W.113
RHD*weak D type 113
not reportedweak 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
not reportedweakened D expression
weak D type
Multiple missense mutations1177T>C (W393R)
1199A>C (K400T)
20152016
RHD(W393X)RHD*01N.76not reportedNonsense mutation1179G>A (W393X)
20142014
RHD(W408R)RHD*01EL.10
RHD*DEL10
CDeDELSingle missense mutation1222T>C (W408R)
20052005
weak D type 106RHD* 01W.106
RHD*weak D type 106
cDEweak D type
weakened D expression
Single missense mutation220T>G (W74G)
20152015
RHD(W90X)RHD*01N.10CDeD negativeNonsense mutation270G>A (W90X)
20022002
RHD(X418L)RHD*01EL.11
RHD*DEL11
CDeDELLoss of stop codonX418L (1252ins T)
20052005
RHD(X418S)not reportedLoss of stop codon1253A>C (X418S)
2014
RHD(Y269X)RHD*01N.18CDeD negativeNonsense mutation807T>G (Y269X)
20042009
RHD(Y311X)[933A]RHD*01N.19CDeD negativeNonsense mutation933C>A (Y311X)
20052005
RHD(Y311X)[761G]RHD*01N.63not reportedD negativeNonsense mutation933C>G (Y311X)
RHD(Y330X)RHD*01N.21CDeD negativeNonsense mutation990C>G (Y330X)
20012001
RHD(Y343X)RHD*01N.40cDED negativeNonsense mutation1029C>A (Y343X)
20122013
RHD(Y34C)not reportedweakened D expressionSingle missense mutation101A>G (Y34C)
2011
RHD(Y401X)RHD*01N.22
RHD*DEL17
RHD*01EL.17
cDED negativeNonsense mutation1203T>A (Y401X)
20042005
RHD(Y48C)not reportedweakened D expressionSingle missense mutation143A>G (Y48C)
20162016
RHD(del Ex8)RHD*01EL.30
RHD*DEL30
not reportedDELlarge deletiondel Ex8
20072007
RHD(del44L)RHD*51not reportedPartial DIn frame deletion130delCTC
2013
RHD(delEx1)RHD*01N.67not reportedD negativelarge deletiondelEx1
RHD(delEx10)not reportedlarge deletiondelEx10
20122012
RHD*745_757delRHD*01N.30not reportedD negativeShort deletion745delGTGGTGACAGCCA
RHD-RHCE(10)CDeDELhybrid allelehybrid RHCE(10)
20092009
RHD-RHCE(4-7)-RHDRHD*01N.07cDED negativehybrid alleleHybrid RHCE(4-7)
19961996
RHD-RHCE(4-7)-RHD1RHD*01N.07cDED negativehybrid alleleHybrid RHCE(4-7)
RHD-RHCE(4-7)-RHD2RHD*01N.07cDED negativehybrid alleleHybrid RHCE(4-7)
RHD-RHCE(4-8)-RHDRHD*01N.07CDeD negativehybrid alleleHybrid RHCE(4-7)
20052005
RHD-RHCE(4-9)-RHDRHD*01EL.44
RHD*DEL44
CDeDELhybrid alleleHybrid RHCE(4-9)
20092009
RHD-RHCE(7)-RHDRHD*58cDEPartial D
D category
hybrid alleleHybrid RHCE(7)
2012
RHD-RHCE(8-9)-RHDCDeD negativehybrid alleleHybrid RHCE(8-9)
19971997
RHD-RHCe(2-7)-RHDRHD*01N.05CDeD negativehybrid alleleHybrid RHCE(3-7)
20012001
RHD-RHCe(2-9)-RHDRHD*01N.03CDeD negativehybrid alleleHybrid RHCE(3-9)
19961996
RHD-cE(5-6)-Dnot reportedhybrid alleleHybrid RHcE[226P](5-6)
2015
standard RHDRHD*01multipleD positive (apparently normal)standard sequence
weak D type 1RHD*01W.1
RHD*weak D type 1
CDeweak D type
weakened D expression
Single missense mutation809T>G (V270G)
19991999
weak D type 1.1RHD*01W.1.1
RHD*weak D type 1.1
CDeweak D type
weakened D expression
Multiple missense mutations52C>G (L18V)
809T>G (V270G)
20042005
weak D type 10RHD*01W.10
RHD*weak D type 10
cDEweak D type
weakened D expression
Single missense mutation1177T>C (W393R)
19991999
weak D type 11RHD*11
RHD*weak partial 11
cDeweak D type
weakened D expression
Partial D
Single missense mutation885G>T (M295I)
19991999
weak D type 12RHD*01W.12
RHD*weak D type 12
CDeweak D type
weakened D expression
Single missense mutation830G>A (G277E)
19991999
weak D type 13RHD*01W.13
RHD*weak D type 13
CDeweak D type
weakened D expression
Single missense mutation826G>C (A276P)
19991999
weak D type 14RHD*01W.14
RHD*weak D type 14
cDEweak D type
weakened D expression
Multiple missense mutations544T>A (S182T)
594A>T (K198N)
602C>G (T201R)
19991999
weak D type 15RHD*15
RHD*weak partial 15
cDEweak D type
weakened D expression
Partial D
Single missense mutation845G>A (G282D)
19991999
weak D type 16RHD*01W.16
RHD*weak D type 16
cDEweak D type
weakened D expression
Single missense mutation658T>C (W220R)
19991999
weak D type 17RHD*01W.17
RHD*weak D type 17
CDEweak D type
weakened D expression
Single missense mutation340C>T (R114W)
20002000
weak D type 18RHD*01W.18
RHD*weak D type 18
not reportedweak D type
weakened D expression
Single missense mutation19C>T (R7W)
2000
weak D type 19RHD*01W.19
RHD*weak D type 19
cDeweak D type
weakened D expression
Single missense mutation611T>C (I204T)
20062006
weak D type 2RHD*01W.2
RHD*weak D type 2
cDEweak D type
weakened D expression
Missense (splice site affected)1154G>C (G385A)
19991999
weak D type 2.1RHD*01W.2.1
RHD*weak D type 2.1
cDEweak D type
weakened D expression
Multiple missense mutations1154G>C (G385A)
301T>A (F101I)
2009
weak D type 20RHD*01W.20
RHD*weak D type 20
cDEweak D typeSingle missense mutation1250T>C (F417S)
20002006
weak D type 21RHD*21
RHD*weak partial D 21
CDeweak D type
Partial D
weakened D expression
Single missense mutation938C>T (P313L)
20012001
weak D type 22RHD*01W.22
RHD*weak D type 22
CDeweak D type
weakened D expression
Single missense mutation1224G>C (W408C)
2000
weak D type 23RHD*01W.23
RHD*weak D type 23
not reportedweak D type
weakened D expression
Single missense mutation634G>T (G212C)
20012001
weak D type 24RHD*01W.24
RHD*weak D type 24
not reportedweak D type
weakened D expression
Single missense mutation1013T>C (L338P)
20032003
weak D type 25RHD*01W.25
RHD*weak D type 25
not reportedweak D type
weakened D expression
Single missense mutation341G>A (R114Q)
2005
weak D type 26RHD*01W.26
RHD*weak D type 26
CDeweak D type
weakened D expression
Single missense mutation26T>A (V9D)
20042005
weak D type 27RHD*01W.27
RHD*weak D type 27
not reportedweak D type
weakened D expression
Single missense mutation661C>T (P221S)
2002
weak D type 28RHD*01W.28
RHD*weak D type 28
not reportedweak D type
weakened D expression
Splice site mutation1152A>C (T384T)
2002
weak D type 3RHD*01W.3
RHD*weak D type 3
CDeweak D type
weakened D expression
Single missense mutation8C>G (S3C)
19991999
weak D type 30RHD*01W.30
RHD*weak D type 30
not reportedweak D type
weakened D expression
Multiple missense mutations1018GA>AT (E340M)
2003
weak D type 31RHD*01W.31
RHD*weak D type 31
CDeweak D type
weakened D expression
Single missense mutation17C>T (P6L)
20042005
weak D type 32RHD*01W.32
RHD*weak D type 32
CDeweak D type
weakened D expression
Single missense mutation1121T>A (I374N)
20052005
weak D type 33RHD*01W.33
RHD*weak D type 33
CDeweak D type
weakened D expression
Single missense mutation520G>A (V174M)
20032003
weak D type 34RHD*01W.34
RHD*weak D type 34
not reportedweak D type
weakened D expression
Single missense mutation809T>A (V270E)
20032003
weak D type 35RHD*01W.35
RHD*weak D type 35
not reportedweak D type
weakened D expression
Single missense mutation260G>A (G87D)
2003
weak D type 36RHD*01W.36
RHD*weak D type 36
not reportedweak D type
weakened D expression
Single missense mutation842T>G (V281G)
2004
weak D type 37RHD*01W.37
RHD*weak D type 37
not reportedweak D type
weakened D expression
Single missense mutation399G>T (K133N)
20032004
weak D type 38RHD*01W.38
RHD*weak D type 38
not reportedweak D type
weakened D expression
Single missense mutation833G>A (G278D)
20032004
weak D type 39RHD*01W.39
RHD*weak D type 39
CDeweak D type
weakened D expression
Single missense mutation1015G>A (G339R)
2003
weak D type 40RHD*01W.40
RHD*weak D type 40
not reportedweak D type
weakened D expression
Single missense mutation602C>G (T201R)
2003
weak D type 41RHD*01W.41
RHD*weak D type 41
not reportedweak D type
weakened D expression
Single missense mutation1193A>T (E398V)
2004
weak D type 42RHD*01W.42
RHD*weak D type 42
not reportedweak D type
weakened D expression
Missense (splice site affected)1226A>T (K409M)
20052005
weak D type 43RHD*01W.43
RHD*weak D type 43
CDeweak D type
weakened D expression
Single missense mutation605C>T (A202V)
20062006
weak D type 44RHD*01W.44
RHD*weak D type 44
not reportedweak D type
weakened D expression
Single missense mutation728A>G (Y243C)
2004
weak D type 45RHD*01W.45
RHD*weak D type 45
not reportedweak D type
weakened D expression
Single missense mutation1195G>A (A399T)
2004
weak D type 45.1RHD*01w.45.1
RHDÜweak D type 45.1
not reportedweak 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
not reportedweak D type
weakened D expression
Single missense mutation1221C>A (F407L)
2004
weak D type 47RHD*01W.47
RHD*weak D type 47
not reportedweak D type
weakened D expression
Single missense mutation340C>G (R114G)
2005
weak D type 48RHD*01W.48
RHD*weak D type 48
cDEweak D type
weakened D expression
Single missense mutation182G>T (G61V)
2005
weak D type 49RHD*01W.49
RHD*weak D type 49
CDeweak D type
weakened D expression
Single missense mutation770C>T (S257F)
20062007
weak D type 5RHD*01W.5
RHD*weak D type 5
cDEweak D type
weakened D expression
Single missense mutation446C>A (A149D)
19991999
weak D type 50RHD*01W.50
RHD*weak D type 50
not reportedweak D type
weakened D expression
Single missense mutation727T>A (Y243N)
2006
weak D type 51RHD*01W.51
RHD*weak D type 51
not reportedweak D type
weakened D expression
hybrid alleleHybrid RHCE(4:594-4:602)
2005
weak D type 52RHD*01W.52
RHD*weak D type 52
not reportedweak D type
weakened D expression
Single missense mutation92T>C (F31S)
2005
weak D type 53RHD*01W.53
RHD*weak D type 53
CDeweak D type
weakened D expression
Single missense mutation740T>G (V247G)
2005
weak D type 54RHD*01W.54
RHD*weak D type 54
cDEweak D type
weakened D expression
Single missense mutation365C>T (S122L)
weak D type 55RHD*01W.55
RHD*weak D type 55
cDEweak D type
weakened D expression
Single missense mutation895C>G (L299V)
2007
weak D type 56RHD*01W.56
RHD*weak D type 56
not reportedweak D type
weakened D expression
Single missense mutation65C>A (A22E)
20072007
weak D type 57RHD*57
RHD*weak partial 57
not reportedweak D type
weakened D expression
Partial D
Single missense mutation640C>T (L214F)
20072007
weak D type 58RHD*01W.58
RHD*weak D type 58
CDeweak D type
weakened D expression
Single missense mutation1006G>C (G336R)
20072007
weak D type 59RHD*01W.59
RHD*weak D type 59
not reportedweak D type
weakened D expression
Single missense mutation1148T>C (L383P)
20072007
weak D type 6RHD*01W.6
RHD*weak D type 6
CDeweak D type
weakened D expression
Single missense mutation29G>A (R10Q)
19991999
weak D type 60RHD*01W.60
RHD*weak D type 60
not reportedweak D type
weakened D expression
In frame deletion1219delTTCTGG (407delFW)
20072007
weak D type 61RHD*01W.61
RHD*weak D type 61
CDeweak D type
weakened D expression
DEL
Single missense mutation28C>T (R10W)
20062006
weak D type 62RHD*01W.62
RHD*weak D type 62
not reportedweak D type
weakened D expression
Single missense mutation661C>A (P221T)
2006
weak D type 63RHD*01W.63
RHD*weak D type 63
not reportedweak D type
weakened D expression
Single missense mutation758T>A (I253N)
2007
weak D type 64RHD*01W.64
RHD*weak D type 64
not reportedweak D type
weakened D expression
Single missense mutation881C>T (A294V)
2007
weak D type 65RHD*01W.65
RHD*weak D type 65
cDeweak D type
weakened D expression
Single missense mutation68C>A (A23D)
2008
weak D type 66RHD*01W.66
RHD*weak D type 66
CDeweak D type
weakened D expression
Single missense mutation916G>A (V306I)
2007
weak D type 67RHD*01W.67
RHD*weak D type 67
cDEweak D type
weakened D expression
Single missense mutation722C>T (T241I)
2008
weak D type 68RHD*01W.68
RHD*weak D type 68
not reportedweak D type
weakened D expression
Multiple missense mutations1213C>G (Q405E)
165C>T
2006
weak D type 69RHD*01W.69
RHD*weak D type 69
not reportedweak D type
weakened D expression
Single missense mutation953G>A (R318Q)
2008
weak D type 7RHD*01W.7
RHD*weak D type 7
CDeweak D type
weakened D expression
Single missense mutation1016G>A (G339E)
19991999
weak D type 70RHD*01W.70
RHD*weak D type 70
CDeweak D type
weakened D expression
Single missense mutation1012C>G (L338V)
2008
weak D type 71RHD*01W.71
RHD*weak D type 71
not reportedweak D type
weakened D expression
Single missense mutation29G>C (R10P)
2009
weak D type 72RHD*01W.72
RHD*weak D type 72
not reportedweak D type
weakened D expression
Single missense mutation1212C>A (D404E)
2007
weak D type 73RHD* 01W.73
RHD*weak D type 73
not reportedweak D type
weakened D expression
Single missense mutation1241C>T (A414V)
2009
weak D type 74RHD* 01W.74
RHD*weak D type 74
RHD(S68T)
not reportedweak D type
weakened D expression
Single missense mutation203G>C (S68T)
2009
weak D type 75RHD* 01W.75
RHD*weak D type 75
not reportedweak D type
weakened D expression
Single missense mutation1194G>C (E398D)
2010
weak D type 76RHD* 01W.76
RHD*weak D type 76
not reportedweak D type
weakened D expression
Single missense mutation1215A>C (Q405H)
2010
weak D type 79RHD* 01W.79
RHD*weak D type 79
not reportedweak D type
weakened D expression
Single missense mutation560T>C (L187P)
2012
weak D type 8RHD*01W.8
RHD*weak D type 8
CDeweak D type
weakened D expression
Single missense mutation919G>A (G307R)
19991999
weak D type 80RHD* 01W.80
RHD*weak D type 80
not reportedweak D type
weakened D expression
Single missense mutation539G>A (G180E)
2012
weak D type 81RHD* 01W.81
RHD*weak D type 81
CDeweak D type
weakened D expression
Single missense mutation1199A>C (K400T)
2012
weak D type 84RHD* 01W.84
RHD*weak D type 84
CDeweak D type
weakened D expression
Single missense mutation227G>A (S76N)
2013
weak D type 86RHD* 01W.86
RHD*weak D type 86
not reportedweak D type
weakened D expression
Single missense mutation1034T>A (V345E)
2014
weak D type 87RHD* 01W.87
RHD*weak D type 87
not reportedweak D type
weakened D expression
Single missense mutation374T>A (I125N)
20142015
weak D type 88RHD* 01W.88
RHD*weak D type 88
cDEweak D type
weakened D expression
Single missense mutation182G>C (G61A)
2014
weak D type 9RHD*01W.9
RHD*weak D type 9
cDEweak D type
weakened D expression
Single missense mutation880G>C (A294P)
19991999
weak D type 135RHD* 01W.135
RHD*weak D type 135
not reportedweak D type
weakened D expression
Single missense mutation884T>A (M295K)
2016
weak D type 93RHD* 01W.93
RHD*weak D type 93
cDEweak D type
weakened D expression
Single missense mutation359C>A (A120D)
2016
weak RHD(6345G>A)CDeweakened D expressionSplice site mutationIVS4+5G>A
2009
weak RHD(960G>A)CDeweakened D expressionSilent mutation960G>A
20072015
weak RHD(IVS3+3G>C)not reportedweakened D expressionSplice site mutationIVS3+3G>C
2008
weak RHD(IVS6-14delTAA)not reportedweakened D expressionIntron polymorphismIVS6-14delTAA
2008