cDe

DesignationISBT nameClusterPhenotypeMechanismAlterationsFirst mentionDefinitive publication
D-SPMRHD*40
RHD*D-SPM
DIVa clusterPartial DMultiple missense mutations186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
509T>C (M170T)
667T>G (F223V)
2012
DAR1 (weak D type 4.2.0)RHD*09.01.00
RHD*DAR1.00
weak D type 4 clusterPartial D
weak D type
weakened D expression
Multiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
19981999
DAR(CE2:V50V-S68N)RHD*09.06
RHD*DAR6
RHD*DAR(SE2:v50V-S68N)
weak D type 4 clusterPartial DComplex changes1025T>C (I342T)
150T>C
178A>C (I60L)
201G>A
203G>A (S68N)
602C>G (T201R)
667T>G (F223V)
957 G>A
2013
DAR(T203A)RHD*09.01
RHD*DAR
weak D type 4 clusterPartial DMultiple missense mutations1025T>C (I342T)
602C>G (T201R)
607A>G (T203A)
667T>G (F223V)
744C>T
957 G>A
20122012
DAR-ERHD*09.02
RHD*DAR2
weak D type 4 clusterPartial D
weakened D expression
Multiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
697G>C (E233Q)
957 G>A
20062006
DAU-13RHD*10.13
RHD*DAU13
DAU clusterMultiple missense mutations1136C>T (T379M)
48G>C (W16C)
2013
DAU-0RHD*10.00
RHD*DAU0
DAU clusterD positive (apparently normal)
Partial D
Single missense mutation1136C>T (T379M)
20022002
DAU-0.1RHD*10.00.01
RHD*DAU0.01
DAU clusterMultiple missense mutations1136C>T (T379M)
579G>A
20032003
DAU-1RHD*10.01
RHD*DAU1
DAU clusterPartial DMultiple missense mutations1136C>T (T379M)
689G>T (S230I)
20022002
DAU-2RHD*10.02
RHD*DAU2
DAU clusterPartial D
weakened D expression
Multiple missense mutations1136C>T (T379M)
209G>A (R70Q)
998G>A (S333N)
20022002
DAU-3RHD*10.03
RHD*DAU3
DAU clusterPartial DMultiple missense mutations1136C>T (T379M)
835G>A (V279M)
20022002
DAU-4RHD*10.04
RHD*DAU4
DAU clusterPartial D
weakened D expression
Multiple missense mutations1136C>T (T379M)
697G>A (E233K)
20022002
DAU-5RHD*10.05
RHD*DAU5
DAU clusterPartial DMultiple missense mutations1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20052005
DAU-6RHD*10.06
RHD*DAU6
DAU clusterPartial DMultiple missense mutations1136C>T (T379M)
998G>A (S333N)
20052005
DAU-7RHD*10.07
RHD*DAU7
DAU clusterPartial DSingle missense mutation1136C>T (T379M)
835G>A (V279M)
998G>A (S333N)
20092009
DFV.1weak D type 4 clusterweakened D expressionSingle missense mutation667T>G (F223V)
819G>A
20132014
DIII type 5RHD*03.01
RHD*DIIIa
DIVa clusterPartial D
D category
Multiple missense mutations186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
DIII type 6RHD*03.06
RHD*DIII.6
DIVa clusterPartial D
D category
Multiple missense mutations410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
20052006
DIII type 7RHD*03.07
RHD*DIII.07
DIVa clusterPartial D
D category
Complex changes410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
Hybrid RHCE(2)
20052006
DIV(S103P)DIVa clusterMultiple missense mutations186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
2013
DIV type 1.0RHD*04.01
RHD*DIVa.
DIVa clusterPartial D
D category
Multiple missense mutations1048G>C (D350H)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
2012
DMARHD*35
RHD*DMA
Eurasian D clusterSingle missense mutation621G>C (L207F)
20032003
DOL-1RHD*12.01
RHD*DOL1
weak D type 4 clusterPartial DMultiple missense mutations509T>C (M170T)
667T>G (F223V)
19992009
DWNRHD*49
RHD*DWN
Eurasian D clusterPartial Dhybrid alleleHybrid RHCE(7:1053-7:1061)
20132013
DYURHD*29
RHD*DYU
Eurasian D clusterPartial DSingle missense mutation700A>T (R234W)
20032005
RHD psiRHD*08N.01
RHD*Pseudogene
weak D type 4 clusterD negativeComplex changes609G>A
654G>C (M218I)
667T>G (F223V)
674C>T (S225F)
807T>G (Y269X)
IVS3-19 dupl 37
20002000
RHD(1347A>G)Eurasian D clusteruntranslated region1347A>G
20032003
RHD(545delCTGT)RHD*01N.46Eurasian D clusterD negativeShort deletion545delCTGT
20122012
weak D type 96RHD* 01W.96
RHD*weak D type 96
Eurasian D clusterweak D type
weakened D expression
Single missense mutation731C>T (A244V)
20132013
DAU-11RHD*10.11
RHD*DAU11
DAU clusterweakened D expressionMultiple missense mutations1136C>T (T379M)
254C>T (A85V)
835G>A (V279M)
20122016
RHD(F223S)RHD*52Eurasian D clusterPartial D
weakened D expression
Single missense mutation668T>C (F223S)
20152016
DAU-5.1RHD*10.05.01
RHD*DAU5.01
DAU clusterweakened D expressionMultiple missense mutations1122C>T (I374I)
1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20142016
RHD(G212R)RHD*01EL.16
RHD*DEL16
Eurasian D clusterDELMissense (splice site affected)634G>C (G212R)
20082009
DAU-12RHD*10.12
RHD*DAU12
DAU clusterMultiple missense mutations1136C>T (T379M)
542T>C (L181P)
2012
DAU-14RHD*10.14
RHD*DAU14
DAU clusterD positive (no further data)Multiple missense mutations1136C>T (T379M)
201G>A
203G>A (S68N)
20142014
RHD(V174M,V306I)Eurasian D clusterMultiple missense mutations520G>A (V174M)
916G>A (V306I)
2012
RHDpsi-OT1weak D type 4 clusterComplex changes609G>A
654G>C (M218I)
667T>G (F223V)
674C>T (S225F)
835G>A (V279M)
IVS3-19 dupl 37
IVS7-214ins ACAG
2012
weak D type 11RHD*11
RHD*weak partial 11
Eurasian D clusterweak D type
weakened D expression
Partial D
Single missense mutation885G>T (M295I)
19991999
weak D type 19RHD*01W.19
RHD*weak D type 19
Eurasian D clusterweak D type
weakened D expression
Single missense mutation611T>C (I204T)
20062006
weak D type 29RHD*01W.29
RHD*weak D type 29
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
957 G>A
20032003
weak D type 4.0RHD*09.03.01
RHD*DAR3
weak D type 4 clusterweak D type
weakened D expression
Partial D
Multiple missense mutations602C>G (T201R)
667T>G (F223V)
819G>A
19991999
weak D type 4.0.1RHD*09.03
RHD*DAR3
weak D type 4 clusterweak D type
weakened D expression
Partial D
Multiple missense mutations602C>G (T201R)
667T>G (F223V)
weak D type 4.1RHD*09.04
RHD*DAR4
weak D type 4 clusterweak D type
weakened D expression
Multiple missense mutations48G>C (W16C)
602C>G (T201R)
667T>G (F223V)
819G>A
20002000
weak D type 4.2.1 (DAR1.1)RHD*09.01.01
RHD*DAR1.01
RHD*weak 4.2
weak D type 4 clusterPartial D
weak D type
weakened D expression
Multiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
957 G>A
20002000
weak D type 4.2.2 (DAR1.2)RHD*09.01.02
weak D type 4 clusterPartial D
weak D type
weakened D expression
Multiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
744C>T
957 G>A
20002000
weak D type 4.2.3 (DAR1.3)RHD*09.01.03
RHD*DAR1.03
weak D type 4 clusterweak D type
Partial D
weakened D expression
Multiple missense mutations1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
744C>T
2008
weak D type 4.3RHD*09. 05
RHD*weak 4.3
weak D type 4 clusterweak D type
DEL
weakened D expression
Partial D
Multiple missense mutations602C>G (T201R)
667T>G (F223V)
819G>A
872C>G (P291R)
2004
weak D type 65RHD*01W.65
RHD*weak D type 65
Eurasian D clusterweak D type
weakened D expression
Single missense mutation68C>A (A23D)
2008