Multiple missense mutations

DesignationISBT nameHaplotypePhenotypeClusterAlterationsFirst mentionDefinitive publication
D-SPMRHD*40
RHD*D-SPM
cDePartial DDIVa cluster186G>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
cDePartial D
weak D type
weakened D expression
weak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
19981999
DAR(T203A)RHD*09.01
RHD*DAR
cDePartial Dweak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
607A>G (T203A)
667T>G (F223V)
744C>T
957 G>A
20122012
DAR-ERHD*09.02
RHD*DAR2
cDePartial D
weakened D expression
weak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
697G>C (E233Q)
957 G>A
20062006
DAR2.1RHD*09.02.01
RHD*DAR2.01
not reportedPartial Dweak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
697G>C (E233Q)
744C>T
957 G>A
DAU-13RHD*10.13
RHD*DAU13
cDeDAU cluster1136C>T (T379M)
48G>C (W16C)
2013
DAU-0.1RHD*10.00.01
RHD*DAU0.01
cDeDAU cluster1136C>T (T379M)
579G>A
20032003
DAU-1RHD*10.01
RHD*DAU1
cDePartial DDAU cluster1136C>T (T379M)
689G>T (S230I)
20022002
DAU-2RHD*10.02
RHD*DAU2
cDePartial D
weakened D expression
DAU cluster1136C>T (T379M)
209G>A (R70Q)
998G>A (S333N)
20022002
DAU-3RHD*10.03
RHD*DAU3
cDePartial DDAU cluster1136C>T (T379M)
835G>A (V279M)
20022002
DAU-4RHD*10.04
RHD*DAU4
cDePartial D
weakened D expression
DAU cluster1136C>T (T379M)
697G>A (E233K)
20022002
DAU-5RHD*10.05
RHD*DAU5
cDePartial DDAU cluster1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20052005
DAU-6RHD*10.06
RHD*DAU6
cDePartial DDAU cluster1136C>T (T379M)
998G>A (S333N)
20052005
DIII type 5RHD*03.01
RHD*DIIIa
cDePartial D
D category
DIVa cluster186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
DIII type 6RHD*03.06
RHD*DIII.6
cDePartial D
D category
DIVa cluster410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
20052006
DIII type 8RHD*03.08
RHD*DIII.08
not reportedPartial D
D category
DIVa cluster410C>T (A137V)
455A>C (N152T)
2010
DIIIa150Cnot reportedDIVa cluster150T>C
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
819G>A
2012
DIV(S103P)cDeDIVa cluster186G>T (L62F)
307T>C (S103P)
410C>T (A137V)
455A>C (N152T)
2013
DIV type 1.1 (obsolete)cDePartial D
D category
DIVa cluster1048G>C (D350H)
186G>T (L62F)
455A>C (N152T)
19951995
DIV type 1.0RHD*04.01
RHD*DIVa.
cDePartial D
D category
DIVa cluster1048G>C (D350H)
186G>T (L62F)
410C>T (A137V)
455A>C (N152T)
2012
DOL-1RHD*12.01
RHD*DOL1
cDePartial Dweak D type 4 cluster509T>C (M170T)
667T>G (F223V)
19992009
DOL-2RHD*12.02
RHD*DOL2
not reportedPartial Dweak D type 4 cluster1132C>G (L378V)
509T>C (M170T)
667T>G (F223V)
20052009
DOL-3RHD*12.03
RHD*DOL3
not reportedPartial Dweak D type 4 cluster410C>T (A137V)
509T>C (M170T)
667T>G (F223V)
2005
DTORHD*30
RHD*DTO
not reportedweakened D expression
Partial D
weak D type 4 cluster667T>G (F223V)
674C>T (S225F)
20052005
DVII type 2RHD*07.02
RHD*DVII.2
CDePartial DEurasian D cluster307T>C (S103P)
329T>C (L110P)
20012001
RHD(201A,203A,1136T)not reportedDAU cluster1136C>T (T379M)
201G>A
203G>A (S68N)
2014
weak D type 89RHD* 01W.89
RHD*weak D type 89
CDeweak D type
weakened D expression
Eurasian D cluster67G>C (A23P)
20142014
DAU-11RHD*10.11
RHD*DAU11
cDeweakened D expressionDAU cluster1136C>T (T379M)
254C>T (A85V)
835G>A (V279M)
20122016
RHD(D35E,A399T)not reportedweakened D expressionEurasian D cluster105C>G (D35E)
1195G>A (A399T)
20162016
DAU-9RHD*10.09
RHD*DAU9
not reportedD positive (no further data)DAU cluster1136C>T (T379M)
535T>C (F179L)
20122012
DAU-5.1RHD*10.05.01
RHD*DAU5.01
cDeweakened D expressionDAU cluster1122C>T (I374I)
1136C>T (T379M)
667T>G (F223V)
697G>C (E233Q)
20142016
RHD(F223V,G278V)not reportedD positive (no further data)weak D type 4 cluster667T>G (F223V)
833G>T (G278V)
20122012
RHD(G368W,D404E)not reportedEurasian D cluster1102G>T (G368W)
1212C>A (D404E)
2015
RHD(I60L,N152T,T201R,F223V,G263R) (obsolete)cDePartial DDIVa cluster1170T>C
178A>C (I60L)
455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
744C>T
787G>A (G263R)
1999
RHD(I60V,S103P,F161S,L214F)not reportedEurasian D cluster178A>G (I60V)
307T>C (S103P)
482T>C (F161S)
640C>T (L214F)
966T>C
2012
weak D type 4.4not reportedweak D typeweak D type 4 cluster594A>T (K198N)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
DAU-12RHD*10.12
RHD*DAU12
cDeDAU cluster1136C>T (T379M)
542T>C (L181P)
2012
weak D type 10.1RHD*01W.10.1
RHD*weak D type 10.1
not reportedweak D type
weakened D expression
Eurasian D cluster1145T>C (L382P)
1177T>C (W393R)
2016
RHD(M218I, F223V, S225F) (obsolete)CDeweakened D expressionweak D type 4 cluster609G>A
654G>C (M218I)
667T>G (F223V)
674C>T (S225F)
IVS3-19 dupl 37
2013
RHD(N152T,T201R,F223V) (obsolete)cDePartial DDIVa cluster455A>C (N152T)
602C>G (T201R)
667T>G (F223V)
19971997
RHD(N152T,V270G)RHD*62not reportedEurasian D cluster455A>C (N152T)
809T>G (V270G)
2014
DAU-8RHD*10.08
RHD*DAU8
not reportedD positive (no further data)DAU cluster1136C>T (T379M)
340C>T (R114W)
579G>A
20122012
weak D type 45.2RHD*01w.45.2
RHDÜweak D type 45.2
CDeweak D type
weakened D expression
Eurasian D cluster1195G>A (A399T)
208C>T (R70W)
818C>T (A273V)
20132013
weak D type 3.1RHD*01W.3.1
RHD*weak D type 3.1
CDeweak D type
weakened D expression
Eurasian D cluster178A>C (I60L)
8C>G (S3C)
20142014
DAU-14RHD*10.14
RHD*DAU14
cDeD positive (no further data)DAU cluster1136C>T (T379M)
201G>A
203G>A (S68N)
20142014
RHD(T201R,F223V,G307R)not reportedD positive (no further data)weak D type 4 cluster602C>G (T201R)
667T>G (F223V)
819G>A
919G>A (G307R)
20122012
weak D type 4.5not reportedweak D typeweak D type 4 cluster1063G>A (G355S)
602C>G (T201R)
667T>G (F223V)
819G>A
2016
RHD(V174M,V306I)cDeEurasian D cluster520G>A (V174M)
916G>A (V306I)
2012
RHD(V238L,V270G)not reportedD positive (no further data)Eurasian D cluster712G>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
Eurasian D cluster712G>A (V238M)
809T>G (V270G)
20142014
DAU-10RHD*10.10
RHD*DAU10
not reportedD positive (no further data)DAU cluster1136C>T (T379M)
579G>A
739G>C (V247L)
20122012
weak D type 2.2RHD*01W.2.2
RHD*weak D type 2.2
cDEweak D type
weakened D expression
Eurasian D cluster1154G>C (G385A)
916G>A (V306I)
932A>G (Y311C)
20142014
weak D type 10.2RHD*01W.10.2
RHD*weak D type 10.2
not reportedweakened D expression
weak D type
Eurasian D cluster1177T>C (W393R)
1199A>C (K400T)
20152016
weak D type 1.1RHD*01W.1.1
RHD*weak D type 1.1
CDeweak D type
weakened D expression
Eurasian D cluster52C>G (L18V)
809T>G (V270G)
20042005
weak D type 14RHD*01W.14
RHD*weak D type 14
cDEweak D type
weakened D expression
Eurasian D cluster544T>A (S182T)
594A>T (K198N)
602C>G (T201R)
19991999
weak D type 2.1RHD*01W.2.1
RHD*weak D type 2.1
cDEweak D type
weakened D expression
Eurasian D cluster1154G>C (G385A)
301T>A (F101I)
2009
weak D type 29RHD*01W.29
RHD*weak D type 29
cDeweak D type
weakened D expression
weak D type 4 cluster1025T>C (I342T)
178A>C (I60L)
201G>A
203G>A (S68N)
594A>T (K198N)
667T>G (F223V)
744C>T
957 G>A
20032003
RHD(I60L,S68N,K198N,F223V,G314V,I342T)not reportedweak D type
weakened D expression
weak D type 4 cluster1025T>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
not reportedweak D type
weakened D expression
Eurasian D cluster1018GA>AT (E340M)
2003
weak D type 4.0RHD*09.03.01
RHD*DAR3
cDeweak D type
weakened D expression
Partial D
weak D type 4 cluster602C>G (T201R)
667T>G (F223V)
819G>A
19991999
weak D type 4.0.1RHD*09.03
RHD*DAR3
cDeweak D type
weakened D expression
Partial D
weak D type 4 cluster602C>G (T201R)
667T>G (F223V)
weak D type 4.1RHD*09.04
RHD*DAR4
cDeweak D type
weakened D expression
weak D type 4 cluster48G>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
cDePartial D
weak D type
weakened D expression
weak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
957 G>A
20002000
weak D type 4.2.2 (DAR1.2)RHD*09.01.02
cDePartial D
weak D type
weakened D expression
weak D type 4 cluster1025T>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
cDeweak D type
Partial D
weakened D expression
weak D type 4 cluster1025T>C (I342T)
602C>G (T201R)
667T>G (F223V)
744C>T
2008
weak D type 4.3RHD*09. 05
RHD*weak 4.3
cDeweak D type
DEL
weakened D expression
Partial D
weak D type 4 cluster602C>G (T201R)
667T>G (F223V)
819G>A
872C>G (P291R)
2004
weak D type 45.1RHD*01w.45.1
RHDÜweak D type 45.1
not reportedweak D type
weakened D expression
Eurasian D cluster1195G>A (A399T)
818C>T (A273V)
2010
weak D type 68RHD*01W.68
RHD*weak D type 68
not reportedweak D type
weakened D expression
Eurasian D cluster1213C>G (Q405E)
165C>T
2006