CDe

DesignationISBT nameClusterPhenotypeMechanismAlterationsFirst mentionDefinitive publication
DBS-0RHD*05.03
RHD*DV.3
Eurasian D clusterPartial Dhybrid alleleHybrid RHcE[226P](5:667-5:712)
19961996
DBT-1RHD*14.01
RHD*DBT1
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(5-7)
19961996
DBT-2RHD*14.02
RHD*DBT2
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(5-9)
19991999
DCCRHD*42
RHD*DCC
Eurasian D clusterPartial DSingle missense mutation677C>A (A226D)
20072012
DEL RHD(X418K)RHD*01EL.25
RHD*DEL25
Eurasian D clusterDELLoss of stop codon1252T>A (X418K)
20152015
DFLRHD*28
RHD*DFL
Eurasian D clusterPartial DSingle missense mutation494A>G (Y165C)
20052007
DFR-2RHD*17.02
RHD*DFR2
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(4)
19971997
DFR-3RHD*17.03
RHD*DFR3
Eurasian D clusterPartial DComplex changes539G>C (G180A)
Hybrid RHCE(4:505-4:514)
20072007
DFR-4RHD*17.04
RHD*DFR4
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(4:505-4:509)
20092012
DFWRHD*18
RHD*DFW
Eurasian D clusterPartial DSingle missense mutation497A>C (H166P)
19982009
DHKRHD*05.05
RHD*DV.5
Eurasian D clusterPartial DSingle missense mutation697G>A (E233K)
19981999
DHORHD*20
RHD*DHO
Eurasian D clusterPartial D
weakened D expression
Single missense mutation704A>C (K235T)
20012001
DIIRHD*02
RHD*DII
Eurasian D clusterPartial D
D category
Single missense mutation1061C>A (A354D)
19971997
DIII type 4RHD*03.04
RHD*DIII.4
DIVa clusterPartial D
D category
hybrid allele186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
20002000
DIIIcRHD*03.03
RHD*DIIIc
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(3)
19961996
DIT-1Eurasian D clusterweakened D expressionSingle missense mutation863T>C (I288T)
2005
DIT-2Eurasian D clusterweakened D expressionSingle missense mutation862A>T (I288F)
2011
DIV type 3RHD*04.03
RHD* DIV.3
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(6-9)
19991999
DIV type 4RHD*04.04
RHD*DIV.4
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(7:1048-7:1061)
1998
DIVb type 2RHD*04.06
RHD* DIVb
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(7:1048-9)
19951995
DMHRHD*23
RHD*DMH
Eurasian D clusterPartial DMissense (splice site affected)161T>C (L54P)
1999
DMIRHD*47
RHD*DMI
Eurasian D clusterPartial DSingle missense mutation510G>A (M170I)
20082009
DMI-1.1RHD*47.01
RHD*DMI-1.1
Eurasian D clusterPartial DSingle missense mutation510G>T (M170I)
2010
DNBRHD*25
RHD*DNB
Eurasian D clusterPartial DSingle missense mutation1063G>A (G355S)
20022002
DNTEurasian D clusterPartial DSingle missense mutation455A>C (N152T)
20092013
DUC-3RHD*01.01Eurasian D clusterD positive (apparently normal)Single missense mutation48G>C (W16C)
2010
DV type 1RHD*05.01
RHD*DV.1
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(5:667-5:697)
19951995
DV type 2RHD*05.02
RHD*DV.2
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(5)
19951995
DV type 4RHD*05.04
RHD*DV.4
Eurasian D clusterPartial D
D category
Single missense mutation697G>C (E233Q)
19981999
DV type 6RHD*05.06
RHD*DV.6
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(5:667-5:712)
19981999
DV type 7RHD*05.07
RHD*DV.7
Eurasian D clusterD category
Partial D
hybrid alleleHybrid RHCE(5:667-5:787)
20012001
DV type 8RHD*05.08
RHD*DV.8
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(5:667-5:744)
19981999
DV type 9RHD*05.09
RHD*DV.9
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(5:697-5:712)
19992000
DVI type 2RHD*06.02
RHD*DVI.2
Eurasian D clusterPartial D
D category
BARC positive
hybrid alleleHybrid RHCE(4-6)
19941994
DVI type 3RHD*06.03
RHD*DVI.3
Eurasian D clusterPartial D
D category
BARC positive
hybrid alleleHybrid RHCE(3-6)
19981998
DVI type 4RHD*06.04
RHD*DVI.4
Eurasian D clusterPartial D
D category
hybrid alleleHybrid RHCE(3-5)
20002006
DVIIRHD*07.01
RHD*DVII.1
Eurasian D clusterPartial D
D category
Single missense mutation329T>C (L110P)
19951995
DVII type 2RHD*07.02
RHD*DVII.2
Eurasian D clusterPartial DMultiple missense mutations307T>C (S103P)
329T>C (L110P)
20012001
DWIRHD*33
RHD*DWI
Eurasian D clusterPartial DSingle missense mutation1073T>C (M358T)
20042004
RHD(-10C>T)Eurasian D clusterweakened D expressionuntranslated region-10C>T
2012
RHD(1065C>T)Eurasian D clusterweakened D expressionSilent mutation1065C>T
20142014
RHD(1227G>A)RHD*01EL.01
RHD*DEL1
Eurasian D clusterDELSplice site mutation1227G>A
20012001
RHD(1248insG)RHD*01EL.26
RHD*DEL26
Eurasian D clusterDELShort insertion1248insG
20142014
RHD(1269G>C)Eurasian D clusterweakened D expressionuntranslated region1269G>C
20112012
RHD(147del A)RHD*01EL.04
RHD*DEL4
Eurasian D clusterDELShort deletion147del A
IVS1+6del A
20042009
RHD(216dupCA,1195G>A)Eurasian D clusterD negativeComplex changes1195G>A (A399T)
216dupCA
2012
RHD(325delA)RHD*01N.11Eurasian D clusterD negativeShort deletion325del A
20072007
RHD(343del C)RHD*01N.23Eurasian D clusterD negativeShort deletion343del C
20042009
RHD(361del11)Eurasian D clusterD negativeShort deletion361delTTGTCGGTGCT
20122012
RHD(449del T)RHD*01N.12Eurasian D clusterD negativeShort deletion449del T
2004
RHD(489delAGAC)RHD*01N.13Eurasian D clusterD negativeShort deletion487del ACAG
19981998
RHD(519C>T)Eurasian D clusterweakened D expressionSilent mutation519C>T
2013
RHD(576C>T)Eurasian D clusterweakened D expressionSilent mutation576C>T
2011
RHD(615delCA)Eurasian D clusterD negativeShort deletion615delCA
20092012
RHD(660delG)Eurasian D clusterD negativeShort deletion660delG
20082009
RHD(711del C)RHD*01N.16Eurasian D clusterD negativeShort deletion711del C
20022002
RHD(712delG)Eurasian D clusterD negativeShort deletion712delG
20082009
RHD(745del13)Eurasian D clusterD negativeShort deletion745delGTGGTGACAGCCA
758TC>AG
2008
RHD(786del A)RHD*01EL.13
RHD*DEL13
Eurasian D clusterD negativeShort deletion786del A
20042009
RHD(78delC)Eurasian D clusterD negativeShort deletion78delC
20092010
RHD(909ins TGGCT, IVS6+2del TAAG)RHD*01N.27Eurasian D clusterD negativeComplex changes909ins TGGCT
IVS6+2del TAAG
20022002
RHD(93insT)RHD*01EL.18
RHD*DEL18
Eurasian D clusterDEL
D negative
Short insertion93insT
20082008
RHD(970delCAC,976delTCCATCATGGGCTACA)RHD*01N.28Eurasian D clusterD negativeShort deletion970delCAC
976delTCCATCATGGGCTACA
20082009
RHD(A137E)RHD*01EL.07
RHD*DEL7
Eurasian D clusterDELSingle missense mutation410C>A (A137E)
20062009
weak D type 89RHD* 01W.89
RHD*weak D type 89
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations67G>C (A23P)
20142014
RHD(A23S)Eurasian D clusterweakened D expressionSingle missense mutation67G>T (A23S)
2016
weak D type 120RHD* 01W.120
RHD*weak D type 120
Eurasian D clusterweakened D expression
weak D type
Single missense mutation818C>A (A273E)
2010
weak D type 119RHD* 01W.119
RHD*weak D type 119
Eurasian D clusterweakened D expression
weak D type
Single missense mutation818C>T (A273V)
2010
RHD(A354T)RHD*50Eurasian D clusterPartial DSingle missense mutation1060G>A (A354T)
20142014
weak D type 82RHD* 01W.82
RHD*weak D type 82
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1184C>T (A395V)
2012
RHD(A58V)Eurasian D clusterweakened D expressionSingle missense mutation173C>T (A58V)
2015
weak D type 131RHD* 01W.131
RHD*weak D type 131
Eurasian D clusterweakened D expression
weak D type
Single missense mutation254C>G (A85G)
20122012
weak D type 129RHD* 01W.129
RHD*weak D type 129
Eurasian D clusterweakened D expression
weak D type
Single missense mutation1208A>T (D403V)
20122012
RHD(E193D)Eurasian D clusterweakened D expressionSingle missense mutation579G>C (E193D)
2016
weak D type 99RHD* 01W.99
RHD*weak D type 99
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1107A>C (E369D)
20132013
RHD(F161C)Eurasian D clusterweakened D expressionSingle missense mutation482T>G (F161C)
2015
RHD(F179L)Eurasian D clusterD positive (no further data)Single missense mutation537T>G (F179L)
2012
RHD(F31L)Eurasian D clusterDELSingle missense mutation93T>A (F31L)
20142014
weak D type 78RHD* 01W.78
RHD*weak D type 78
Eurasian D clusterweakened D expression
weak D type
Missense (splice site affected)1228T>G (F410V)
20092011
weak D type 133RHD* 01W.133
RHD*weak D type 133
Eurasian D clusterweakened D expression
weak D type
Single missense mutation395G>A (G132E)
20122012
weak D type 132RHD* 01W.132
RHD*weak D type 132
Eurasian D clusterweakened D expression
weak D type
Single missense mutation394G>A (G132R)
20102012
RHD(G212V)RHD*01N.15Eurasian D clusterD negativeMissense (splice site affected)635G>T (G212V)
20012001
weak D type 100RHD* 01W.100
RHD*weak D type 100
Eurasian D clusterweak D type
weakened D expression
Missense (splice site affected)787G>A (G263R)
2010
RHD(G308X)RHD*01EL.15
RHD*DEL15
Eurasian D clusterD negativeNonsense mutation922G>T (G308X)
2010
RHD(G314V)RHD*01N.20Eurasian D clusterD negativeMissense (splice site affected)941G>T (G314V)
19971997
RHD(G96S)Eurasian D clusterweakened D expressionSingle missense mutation286G>A (G96S)
2005
RHD(H171D)Eurasian D clusterD positive (no further data)Single missense mutation511C>G (H171D)
2012
RHD(IVS1-29G>C)RHD*01EL.32
RHD*DEL32
Eurasian D clusterDELIntron polymorphismIVS1-29G>C
2012
RHD(IVS2-1G>A)RHD*01N.25Eurasian D clusterD negativeSplice site mutationIVS2-1G>A
20052005
RHD(IVS3+1G>A)RHD*01EL.08
RHD*DEL8
Eurasian D clusterDEL
D negative
Splice site mutationIVS3+1G>A
20012001
RHD(IVS6+1G>A)Eurasian D clusterD negativeSplice site mutationIVS6+1G>A
20142014
RHD(IVS7+152C>A,1227G>A)RHD*01EL.36
RHD*DEL36
Eurasian D clusterDELSplice site mutation1227G>A
IVS7+152C>A
20022002
RHD(IVS8+1G>A)RHD*01N.26Eurasian D clusterD negativeSplice site mutationIVS8+1G>A
20012001
RHD(IVS9-1G>A)Eurasian D clusterSplice site mutationIVS9-1G>A
20142014
weak D type 97RHD* 01W.97
RHD*weak D type 97
Eurasian D clusterweak D type
weakened D expression
Single missense mutation542T>C (L181P)
20132013
RHD(L337R)RHD*01EL.38
RHD*DEL38
Eurasian D clusterD negative
DEL
Single missense mutation1010T>G (L337R)
20142014
RHD(L370L)Eurasian D clusterweakened D expressionSilent mutation1110C>T (L370L)
2009
RHD(L93R)RHD*01EL.40
RHD*DEL40
Eurasian D clusterDELSingle missense mutation278T>G (L93R)
20142014
RHD(M295I)RHD*11
RHD*weak partial 11
Eurasian D clusterDEL
Partial D
Single missense mutation885G>T (M295I)
20012001
weak D type 94RHD* 01W.94
RHD*weak D type 94
RHD*01EL.46
Eurasian D clusterweak D type
weakened D expression
Single missense mutation884T>C (M295T)
20122013
weak D type 115RHD* 01W.115
RHD*weak D type 115
Eurasian D clusterweakened D expression
weak D type
Single missense mutation983T>A (M328K)
20152015
weak D type 90RHD* 01W.90
RHD*weak D type 90
Eurasian D clusterweak D type
weakened D expression
Single missense mutation993C>G (N331K)
20142014
RHD(P291R)RHD*01EL.41
RHD*DEL41
Eurasian D clusterDELSingle missense mutation872C>G (P291R)
2012
RHD(P313T)Eurasian D clusterweakened D expressionSingle missense mutation937C>A (P313T)
2015
weak D type 91RHD* 01W.91
RHD*weak D type 91
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1187C>G (P396R)
20142014
RHD(Q41X)RHD*01N.09Eurasian D clusterD negativeNonsense mutation121C>T (Q41X)
643T>C (F215L)
646T>C
988T>C (Y330H)
19971997
RHD(R318X)Eurasian D clusterD negativeNonsense mutation952C>T (R318X)
20082009
weak D type 85RHD* 01W.85
RHD*weak D type 85
Eurasian D clusterweak D type
weakened D expression
Single missense mutation209G>A (R70Q)
2010
weak D type 45.2RHD*01w.45.2
RHDÜweak D type 45.2
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations1195G>A (A399T)
208C>T (R70W)
818C>T (A273V)
20132013
RHD(S254X)Eurasian D clusterD negativeNonsense mutation761C>G (S254X)
20152015
RHD(S256X)Eurasian D clusterD negativeNonsense mutation767C>G (S256X)
20122013
weak D type 3.1RHD*01W.3.1
RHD*weak D type 3.1
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations178A>C (I60L)
8C>G (S3C)
20142014
RHD(S68T)-RHCe(3-9)-RHDRHD*01N.04Eurasian D clusterD negativehybrid allele203G>C (S68T)
Hybrid RHCE(3-9)
20052005
weak D type 130RHD* 01W.130
RHD*weak D type 130
Eurasian D clusterweakened D expression
weak D type
Single missense mutation163A>C (T55P)
20112012
weak D type 1.2RHD*01w.1.2
RHD*weak D type 1.2
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations712G>A (V238M)
809T>G (V270G)
20142014
RHD(V56M,W90X)Eurasian D clusterD negative
D negative
Nonsense mutation166G>A (V56M)
270G>A (W90X)
20082009
RHD(W16X)RHD*01N.08Eurasian D clusterD negativeNonsense mutation48G>A (W16X)
20012001
RHD(W185X)RHD*01N.14Eurasian D clusterD negativeNonsense mutation554G>A (W185X)
20052005
RHD(W408R)RHD*01EL.10
RHD*DEL10
Eurasian D clusterDELSingle missense mutation1222T>C (W408R)
20052005
RHD(W90X)RHD*01N.10Eurasian D clusterD negativeNonsense mutation270G>A (W90X)
20022002
RHD(X418L)RHD*01EL.11
RHD*DEL11
Eurasian D clusterDELLoss of stop codonX418L (1252ins T)
20052005
RHD(Y269X)RHD*01N.18Eurasian D clusterD negativeNonsense mutation807T>G (Y269X)
20042009
RHD(Y311X)RHD*01N.19Eurasian D clusterD negativeNonsense mutation933C>A (Y311X)
20052005
RHD(Y330X)RHD*01N.21Eurasian D clusterD negativeNonsense mutation990C>G (Y330X)
20012001
RHD-RHCE(10)Eurasian D clusterDELhybrid allelehybrid RHCE(10)
20092009
RHD-RHCE(4-8)-RHDRHD*01N.07Eurasian D clusterD negativehybrid alleleHybrid RHCE(4-7)
20052005
RHD-RHCE(4-9)-RHDRHD*01EL.44
RHD*DEL44
Eurasian D clusterDELhybrid alleleHybrid RHCE(4-9)
20092009
RHD-RHCE(8-9)-RHDEurasian D clusterD negativehybrid alleleHybrid RHCE(8-9)
19971997
RHD-RHCe(2-7)-RHDRHD*01N.05Eurasian D clusterD negativehybrid alleleHybrid RHCE(3-7)
20012001
RHD-RHCe(2-9)-RHDRHD*01N.03Eurasian D clusterD negativehybrid alleleHybrid RHCE(3-9)
19961996
weak D type 1RHD*01W.1
RHD*weak D type 1
Eurasian D clusterweak 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
Eurasian D clusterweak D type
weakened D expression
Multiple missense mutations52C>G (L18V)
809T>G (V270G)
20042005
weak D type 12RHD*01W.12
RHD*weak D type 12
Eurasian D clusterweak D type
weakened D expression
Single missense mutation830G>A (G277E)
19991999
weak D type 13RHD*01W.13
RHD*weak D type 13
Eurasian D clusterweak D type
weakened D expression
Single missense mutation826G>C (A276P)
19991999
weak D type 21RHD*21
RHD*weak partial D 21
Eurasian D clusterweak D type
Partial D
weakened D expression
Single missense mutation938C>T (P313L)
20012001
weak D type 22RHD*01W.22
RHD*weak D type 22
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1224G>C (W408C)
2000
weak D type 26RHD*01W.26
RHD*weak D type 26
Eurasian D clusterweak D type
weakened D expression
Single missense mutation26T>A (V9D)
20042005
weak D type 3RHD*01W.3
RHD*weak D type 3
Eurasian D clusterweak D type
weakened D expression
Single missense mutation8C>G (S3C)
19991999
weak D type 31RHD*01W.31
RHD*weak D type 31
Eurasian D clusterweak D type
weakened D expression
Single missense mutation17C>T (P6L)
20042005
weak D type 32RHD*01W.32
RHD*weak D type 32
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1121T>A (I374N)
20052005
weak D type 33RHD*01W.33
RHD*weak D type 33
Eurasian D clusterweak D type
weakened D expression
Single missense mutation520G>A (V174M)
20032003
weak D type 39RHD*01W.39
RHD*weak D type 39
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1015G>A (G339R)
2003
weak D type 43RHD*01W.43
RHD*weak D type 43
Eurasian D clusterweak D type
weakened D expression
Single missense mutation605C>T (A202V)
20062006
weak D type 49RHD*01W.49
RHD*weak D type 49
Eurasian D clusterweak D type
weakened D expression
Single missense mutation770C>T (S257F)
20062007
weak D type 53RHD*01W.53
RHD*weak D type 53
Eurasian D clusterweak D type
weakened D expression
Single missense mutation740T>G (V247G)
2005
weak D type 58RHD*01W.58
RHD*weak D type 58
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1006G>C (G336R)
20072007
weak D type 6RHD*01W.6
RHD*weak D type 6
Eurasian D clusterweak D type
weakened D expression
Single missense mutation29G>A (R10Q)
19991999
weak D type 61RHD*01W.61
RHD*weak D type 61
Eurasian D clusterweak D type
weakened D expression
DEL
Single missense mutation28C>T (R10W)
20062006
weak D type 66RHD*01W.66
RHD*weak D type 66
Eurasian D clusterweak D type
weakened D expression
Single missense mutation916G>A (V306I)
2007
weak D type 7RHD*01W.7
RHD*weak D type 7
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1016G>A (G339E)
19991999
weak D type 70RHD*01W.70
RHD*weak D type 70
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1012C>G (L338V)
2008
weak D type 8RHD*01W.8
RHD*weak D type 8
Eurasian D clusterweak D type
weakened D expression
Single missense mutation919G>A (G307R)
19991999
weak D type 81RHD* 01W.81
RHD*weak D type 81
Eurasian D clusterweak D type
weakened D expression
Single missense mutation1199A>C (K400T)
2012
weak D type 84RHD* 01W.84
RHD*weak D type 84
Eurasian D clusterweak D type
weakened D expression
Single missense mutation227G>A (S76N)
2013
weak RHD(6345G>A)Eurasian D clusterweakened D expressionSplice site mutationIVS4+5G>A
2009
weak RHD(960G>A)Eurasian D clusterweakened D expressionSilent mutation960G>A
20072015