RHD: Alleles by year of first description (incl. abstracts, GenBank ...)

AllelePhenotypeMechanism
1991
RHD deletionD negativelarge deletion
1992
1993
1994
DVI type 1 (deletion type) (obsolete)D category
Partial D
large deletion
DVI type 2Partial D
D category
BARC positive
hybrid allele
1995
DFR-1Partial Dhybrid allele
DIIIb (Caucasian) (obsolete)weakened D expression
Partial D
hybrid allele
DIV type 1.1 (obsolete)Partial D
D category
Multiple missense mutations
DIVb type 2Partial Dhybrid allele
DV type 1Partial D
D category
hybrid allele
DV type 2Partial D
D category
hybrid allele
DVIIPartial D
D category
Single missense mutation
1996
DBS-0Partial Dhybrid allele
DBT-1Partial Dhybrid allele
DHARPartial Dhybrid allele
DHMiPartial DSingle missense mutation
DHMiiPartial Dhybrid allele
DIIIcPartial D
D category
hybrid allele
RHD(S103P)Partial DSingle missense mutation
RHD-RHCe(2-9)-RHDD negativehybrid allele
RHD-RHCE(4-7)-RHDD negative
DEL
hybrid allele
1997
DFR-2Partial Dhybrid allele
DHRPartial DSingle missense mutation
DIIPartial D
D category
Single missense mutation
DNUPartial DSingle missense mutation
DVI type 1D category
Partial D
hybrid allele
RHD(G314V)D negativeMissense (splice site affected)
RHD(N152T,T201R,F223V) (obsolete)Partial DMultiple missense mutations
RHD(Q41X)D negativeNonsense mutation
RHD-RHCE(8-9)-RHDD negativehybrid allele
1998
DAR1 (weak D type 4.2.0)Partial D
weak D type
weakened D expression
Multiple missense mutations
DFWPartial DSingle missense mutation
DHKPartial DSingle missense mutation
DIV type 4Partial D
D category
hybrid allele
DV type 4Partial D
D category
Single missense mutation
DV type 6Partial D
D category
hybrid allele
DV type 8Partial D
D category
hybrid allele
DVI type 3Partial D
D category
BARC positive
hybrid allele
RHD(489delAGAC)D negativeShort deletion
RHD(del Ex9) (obsolete)DELlarge deletion
1999
DBT-2Partial Dhybrid allele
DCS-1Partial Dhybrid allele
DIV type 3Partial D
D category
hybrid allele
DMHPartial DMissense (splice site affected)
DOL-1Partial DMultiple missense mutations
DV type 9Partial D
D category
hybrid allele
RHD(I60L,N152T,T201R,F223V,G263R) (obsolete)Partial DMultiple missense mutations
weak D type 1weak D type
weakened D expression
Single missense mutation
weak D type 10weak D type
weakened D expression
Single missense mutation
weak D type 11weak D type
weakened D expression
Partial D
Single missense mutation
weak D type 12weak D type
weakened D expression
Single missense mutation
weak D type 13weak D type
weakened D expression
Single missense mutation
weak D type 14weak D type
weakened D expression
Multiple missense mutations
weak D type 15weak D type
weakened D expression
Partial D
Single missense mutation
weak D type 16weak D type
weakened D expression
Single missense mutation
weak D type 2weak D type
weakened D expression
Missense (splice site affected)
weak D type 3weak D type
weakened D expression
Single missense mutation
weak D type 4.0weak D type
weakened D expression
Partial D
Multiple missense mutations
weak D type 5weak D type
weakened D expression
Single missense mutation
weak D type 6weak D type
weakened D expression
Single missense mutation
weak D type 7weak D type
weakened D expression
Single missense mutation
weak D type 8weak D type
weakened D expression
Single missense mutation
weak D type 9weak D type
weakened D expression
Single missense mutation
2000
DIII type 4Partial D
D category
hybrid allele
DIMPartial D
weakened D expression
Single missense mutation
DIV type 5Partial D
D category
hybrid allele
DKKPartial Dhybrid allele
DVI type 4Partial D
D category
hybrid allele
RHD psiD negativeComplex changes
weak D type 17weak D type
weakened D expression
Single missense mutation
weak D type 18weak D type
weakened D expression
Single missense mutation
weak D type 20weak D typeSingle missense mutation
weak D type 22weak D type
weakened D expression
Single missense mutation
weak D type 4.1weak D type
weakened D expression
Multiple missense mutations
weak D type 4.2.1 (DAR1.1)Partial D
weak D type
weakened D expression
Multiple missense mutations
weak D type 4.2.2 (DAR1.2)Partial D
weak D type
weakened D expression
Multiple missense mutations
2001
DBS-1Partial Dhybrid allele
DHOPartial D
weakened D expression
Single missense mutation
DV type 7D category
Partial D
hybrid allele
DVII type 2Partial DMultiple missense mutations
RHCE(1-9)-RHDD negativehybrid allele
RHD(1227G>A)DELSplice site mutation
RHD(G212V)D negativeMissense (splice site affected)
RHD(IVS1+1G>A)DELSplice site mutation
RHD(IVS3+1G>A)DEL
D negative
Splice site mutation
RHD(IVS8+1G>A)D negativeSplice site mutation
RHD(M295I)DEL
Partial D
Single missense mutation
RHD(W16X)D negativeNonsense mutation
RHD(Y330X)D negativeNonsense mutation
RHD-RHCe(2-7)-RHDD negativehybrid allele
weak D type 21weak D type
Partial D
weakened D expression
Single missense mutation
weak D type 23weak D type
weakened D expression
Single missense mutation
2002
D674Single missense mutation
DAU-0D positive (apparently normal)
Partial D
Single missense mutation
DAU-1Partial DMultiple missense mutations
DAU-2Partial D
weakened D expression
Multiple missense mutations
DAU-3Partial DMultiple missense mutations
DAU-4Partial D
weakened D expression
Multiple missense mutations
DFVPartial DSingle missense mutation
DNBPartial DSingle missense mutation
RHCE(1)-D(6)-CE(7-10)D negativelarge deletion
RHD(711del C)D negativeShort deletion
RHD(909ins TGGCT, IVS6+2del TAAG)D negativeComplex changes
RHD(IVS7+152C>A,1227G>A)DELSplice site mutation
RHD(W90X)D negativeNonsense mutation
weak D type 27weak D type
weakened D expression
Single missense mutation
weak D type 28weak D type
weakened D expression
Splice site mutation
2003
RHD(1347A>G)untranslated region
DAU-0.1Multiple missense mutations
DBAweakened D expressionSingle missense mutation
DLOweakened D expression
Partial D
Single missense mutation
DMASingle missense mutation
DYUPartial DSingle missense mutation
RHD(Q49R)weakened D expressionSingle missense mutation
weak D type 24weak D type
weakened D expression
Single missense mutation
weak D type 29weak D type
weakened D expression
Multiple missense mutations
weak D type 30weak D type
weakened D expression
Multiple missense mutations
weak D type 33weak D type
weakened D expression
Single missense mutation
weak D type 34weak D type
weakened D expression
Single missense mutation
weak D type 35weak D type
weakened D expression
Single missense mutation
weak D type 37weak D type
weakened D expression
Single missense mutation
weak D type 38weak D type
weakened D expression
Single missense mutation
weak D type 39weak D type
weakened D expression
Single missense mutation
weak D type 40weak D type
weakened D expression
Single missense mutation
2004
Ccdes-1D negativeComplex changes
DHQPartial DSingle missense mutation
DVL-1Partial DIn frame deletion
DWIPartial DSingle missense mutation
RHCE(1-3)-RHD(4-10)D negativehybrid allele
RHD(147del A)DELShort deletion
RHD(343del C)D negativeShort deletion
RHD(449del T)D negativeShort deletion
RHD(786del A)D negativeShort deletion
RHD(L153P)DELSingle missense mutation
RHD(Y269X)D negativeNonsense mutation
RHD(Y401X)D negativeNonsense mutation
RHD-RHCE(2-10)D negativehybrid allele
weak D type 1.1weak D type
weakened D expression
Multiple missense mutations
weak D type 26weak D type
weakened D expression
Single missense mutation
weak D type 31weak D type
weakened D expression
Single missense mutation
weak D type 36weak D type
weakened D expression
Single missense mutation
weak D type 4.3weak D type
DEL
weakened D expression
Partial D
Multiple missense mutations
weak D type 41weak D type
weakened D expression
Single missense mutation
weak D type 44weak D type
weakened D expression
Single missense mutation
weak D type 45weak D type
weakened D expression
Partial D
Single missense mutation
weak D type 46weak D type
weakened D expression
Single missense mutation
2005
DAU-5Partial DMultiple missense mutations
DAU-6Partial DMultiple missense mutations
DFLPartial DSingle missense mutation
DIII type 6Partial D
D category
Multiple missense mutations
DIII type 7Partial D
D category
Complex changes
DIT-1weakened D expressionSingle missense mutation
DNAKPartial DSingle missense mutation
DOL-2Partial DMultiple missense mutations
DOL-3Partial DMultiple missense mutations
DTOweakened D expression
Partial D
Multiple missense mutations
DUC-1D positive (apparently normal)Silent mutation
DUC-2D positive (apparently normal)Single missense mutation
RHD(G96S)weakened D expressionSingle missense mutation
RHD(IVS2-1G>A)D negativeSplice site mutation
RHD(IVS5-38del tctc)DELIntron polymorphism
RHD(S68T)-RHCe(3-9)-RHDD negativehybrid allele
RHD(W185X)D negativeNonsense mutation
RHD(W408R)DELSingle missense mutation
RHD(X418L)DELLoss of stop codon
RHD(Y311X)[933A]D negativeNonsense mutation
RHD-RHCE(4-8)-RHDD negativehybrid allele
weak D type 25weak D type
weakened D expression
Single missense mutation
weak D type 32weak D type
weakened D expression
Single missense mutation
weak D type 42weak D type
weakened D expression
Partial D
Missense (splice site affected)
weak D type 47weak D type
weakened D expression
Single missense mutation
weak D type 48weak D type
weakened D expression
Single missense mutation
weak D type 51weak D type
weakened D expression
hybrid allele
weak D type 52weak D type
weakened D expression
Single missense mutation
weak D type 53weak D type
weakened D expression
Single missense mutation
2006
DAR-EPartial D
weakened D expression
Multiple missense mutations
DBO-2weakened D expressionSilent mutation
DBO-3Single missense mutation
DNSPartial DSingle missense mutation
DVL-2Partial D
weakened D expression
In frame deletion
RHD(652delA 653T>G)D negativeSubstitution with frameshift
RHD(A137E)DELSingle missense mutation
RHD(L18P)DELSingle missense mutation
RHD(L84P)DELSingle missense mutation
RHD(M1I)DELLoss of start codon
weak D type 19weak D type
weakened D expression
Single missense mutation
weak D type 43weak D type
weakened D expression
Single missense mutation
weak D type 49weak D type
weakened D expression
Single missense mutation
weak D type 50weak D type
weakened D expression
Single missense mutation
weak D type 61weak D type
weakened D expression
DEL
Single missense mutation
weak D type 62weak D type
weakened D expression
Single missense mutation
weak D type 68weak D type
weakened D expression
Multiple missense mutations
2007
DCCPartial DSingle missense mutation
DDEPartial DSingle missense mutation
DFR-3Partial DComplex changes
DFR-5Partial Dhybrid allele
RHD(325delA)D negativeShort deletion
RHD(330delGT)D negativeShort deletion
RHD(D95G)weakened D expressionSingle missense mutation
RHD(del Ex8)DELlarge deletion
RHD(IVS2+1G>A)D negativeSplice site mutation
RHD(IVS3+5G>A)weakened D expressionSplice site mutation
RHD(IVS8-8T>A)weakened D expressionSplice site mutation
weak D type 55weak D type
weakened D expression
Single missense mutation
weak D type 56weak D type
weakened D expression
Single missense mutation
weak D type 57weak D type
weakened D expression
Partial D
Single missense mutation
weak D type 58weak D type
weakened D expression
Single missense mutation
weak D type 59weak D type
weakened D expression
Single missense mutation
weak D type 60weak D type
weakened D expression
In frame deletion
weak D type 63weak D type
weakened D expression
Single missense mutation
weak D type 64weak D type
weakened D expression
Single missense mutation
weak D type 66weak D type
weakened D expression
Single missense mutation
weak D type 72weak D type
weakened D expression
Single missense mutation
weak RHD(960G>A)weakened D expressionSilent mutation
2008
DBUDEL
Partial D
hybrid allele
DCS-2Partial DSingle missense mutation
DDNPartial DSingle missense mutation
DMIPartial DSingle missense mutation
RHD(660delG)D negativeShort deletion
RHD(712delG)D negativeShort deletion
RHD(745del13)D negativeShort deletion
RHD(93insT)DEL
D negative
Short insertion
RHD(970delCAC,976delTCCATCATGGGCTACA)D negativeShort deletion
RHD(G212R)DELMissense (splice site affected)
RHD(IVS3+2T>A)D negativeSplice site mutation
RHD(M1V,T379M)Complex changes
RHD(M1_S2insV,T379M)Complex changes
RHD(R318X)D negativeNonsense mutation
RHD(V56M,W90X)D negative
D negative
Nonsense mutation
weak D type 4.2.3 (DAR1.3)weak D type
Partial D
weakened D expression
Multiple missense mutations
weak D type 65weak D type
weakened D expression
Single missense mutation
weak D type 67weak D type
weakened D expression
Single missense mutation
weak D type 69weak D type
weakened D expression
Single missense mutation
weak D type 70weak D type
weakened D expression
Single missense mutation
weak RHD(IVS3+3G>C)weakened D expressionSplice site mutation
weak RHD(IVS6-14delTAA)weakened D expressionIntron polymorphism
2009
Ccdes-2D negativehybrid allele
DAU-7Partial DSingle missense mutation
DBS-2Partial Dhybrid allele
DFR-4Partial Dhybrid allele
DNTPartial DSingle missense mutation
RHD(615delCA)D negativeShort deletion
RHD(78delC)D negativeShort deletion
RHD(L370L)weakened D expressionSilent mutation
RHD(L81P)weakened D expression
Partial D
Single missense mutation
RHD(M218I, F223V, S225F,Y269X)D negativeComplex changes
RHD(S112G)weakened D expressionMissense (splice site affected)
RHD-RHCE(10)DELhybrid allele
RHD-RHCE(4-9)-RHDDELhybrid allele
weak D type 2.1weak D type
weakened D expression
Multiple missense mutations
weak D type 71weak D type
weakened D expression
Single missense mutation
weak D type 73weak D type
weakened D expression
Single missense mutation
weak D type 74weak D type
weakened D expression
Single missense mutation
weak D type 78weakened D expression
weak D type
Missense (splice site affected)
weak RHD(IVS4+5G>A)weakened D expressionSplice site mutation
2010
DIII type 8Partial D
D category
Multiple missense mutations
DMI-1.1Partial DSingle missense mutation
DUC-3D positive (apparently normal)Single missense mutation
RHD(1080del10)D negativeShort deletion
RHD(A237D)Single missense mutation
RHD(G308X)D negativeNonsense mutation
RHD(I60L,S68N,K198N,F223V,G314V,I342T)weak D type
weakened D expression
Multiple missense mutations
RHD(IVS4+5G>T)weakened D expressionSplice site mutation
RHD(IVS4-2A>G)weakened D expressionSplice site mutation
RHD(L38X)DELNonsense mutation
RHD(L390L)weakened D expressionSilent mutation
weak D type 100weak D type
weakened D expression
Missense (splice site affected)
weak D type 118weakened D expression
weak D type
Single missense mutation
weak D type 119weakened D expression
weak D type
Single missense mutation
weak D type 120weakened D expression
weak D type
Single missense mutation
weak D type 132weakened D expression
weak D type
Single missense mutation
weak D type 45.1weak D type
weakened D expression
Multiple missense mutations
weak D type 75weak D type
weakened D expression
Single missense mutation
weak D type 76weak D type
weakened D expression
Single missense mutation
weak D type 77weakened D expression
weak D type
Single missense mutation
weak D type 85weak D type
weakened D expression
Single missense mutation
2011
RHD(147A>G)Silent mutation
DIT-2weakened D expressionSingle missense mutation
RHD(1269G>C)weakened D expressionuntranslated region
RHD(26dupL)weakened D expressionIn frame insertion
RHD(576C>T)weakened D expressionSilent mutation
RHD(A209V)D positive (no further data)Single missense mutation
RHD(G180R)D positive (no further data)Single missense mutation
RHD(G336D)D negativeSingle missense mutation
RHD(I392T)D positive (no further data)Single missense mutation
RHD(IVS2-2A>G)DELSplice site mutation
RHD(IVS7-2A>C)Splice site mutation
RHD(L299P)Single missense mutation
RHD(Q200X)D negativeNonsense mutation
RHD(R71S)D positive (no further data)Single missense mutation
RHD(Y34C)weakened D expressionSingle missense mutation
weak D type 122weakened D expression
weak D type
Single missense mutation
weak D type 130weakened D expression
weak D type
Single missense mutation
weak D type 146weakened D expression
weak D type
Single missense mutation
weak D type 153weak D type
weakened D expression
Single missense mutation
weak D type 156D positive (no further data)Single missense mutation
2012
D186TSingle missense mutation
DIIIa150CMultiple missense mutations
RHD(27del13)Short deletion
RHD(29del14)weakened D expressionShort deletion
D-SPMPartial DMultiple missense mutations
DAR(T203A)Partial DMultiple missense mutations
DAU-10D positive (no further data)Multiple missense mutations
DAU-11weakened D expressionMultiple missense mutations
DAU-12Multiple missense mutations
DAU-8D positive (no further data)Multiple missense mutations
DAU-9D positive (no further data)Multiple missense mutations
DIV type 1.0Partial D
D category
Multiple missense mutations
DLXPartial DComplex changes
RHD(-10C>T)weakened D expressionuntranslated region
RHD(216dupCA,1195G>A)D negativeComplex changes
RHD(356de11)Short deletion
RHD(545delCTGT)D negativeShort deletion
RHD(950delA)D negativeShort deletion
RHD(D404H)DELSingle missense mutation
RHD(F175L)Partial DSingle missense mutation
RHD(F179L)D positive (no further data)Single missense mutation
RHD(F179S)Single missense mutation
RHD(F223V,G278V)D positive (no further data)Multiple missense mutations
RHD(G255R)Single missense mutation
RHD(G353V)Single missense mutation
RHD(G353W,A354N)D positive (no further data)hybrid allele
RHD(H171D)D positive (no further data)Single missense mutation
RHD(I60V,S103P,F161S,L214F)Multiple missense mutations
RHD(IVS1-29G>C)DELIntron polymorphism
RHD(IVS4+1G>A)Splice site mutation
RHD(IVS4+2T>A)Splice site mutation
RHD(IVS5+1G>A)D negativeSplice site mutation
RHD(IVS5+2T>A)Splice site mutation
RHD(IVS5-41delCTCT)Intron polymorphism
RHD(IVS6-4A>C)weakened D expressionSplice site mutation
RHD(IVS7+2T>C)D negativeSplice site mutation
RHD(IVS8+6T>C)weakened D expressionSplice site mutation
RHD(IVS8-31C>T)DELIntron polymorphism
RHD(L228Q)Single missense mutation
RHD(P291R)DELSingle missense mutation
RHD(P313P)Splice site mutation
RHD(S112I)Single missense mutation
RHD(S112T)DELMissense (splice site affected)
RHD(S256X)D negativeNonsense mutation
RHD(T148R)D negativeSingle missense mutation
RHD(T201R,F223V,G307R)D positive (no further data)Multiple missense mutations
RHD(V174M,V306I)Multiple missense mutations
RHD(V238L,V270G)D positive (no further data)Multiple missense mutations
RHD(V352I)Single missense mutation
RHD(W16R)DELSingle missense mutation
RHD(Y343X)D negativeNonsense mutation
RHD-RHCE(2)-RHD(F355S)Complex changes
RHD-RHCE(7)-RHDPartial D
D category
hybrid allele
RHDex10del type 1weakened D expression
DEL
large deletion
RHDpsi-OT1Complex changes
weak D type 127weakened D expression
weak D type
Single missense mutation
weak D type 129weakened D expression
weak D type
Single missense mutation
weak D type 131weakened D expression
weak D type
Single missense mutation
weak D type 133weakened D expression
weak D type
Single missense mutation
weak D type 134weak D typeSingle missense mutation
weak D type 147weakened D expression
weak D type
Single missense mutation
weak D type 154weakened D expression
weak D type
Single missense mutation
weak D type 79weak D type
weakened D expression
Single missense mutation
weak D type 80weak D type
weakened D expression
Single missense mutation
weak D type 81weak D type
weakened D expression
Single missense mutation
weak D type 82weak D type
weakened D expression
Single missense mutation
weak D type 83weakened D expressionSingle missense mutation
weak D type 94weak D type
weakened D expression
Single missense mutation
2013
DAR(CE2:V50V-S68N)Partial DComplex changes
DAU-13Multiple missense mutations
DFV.1weakened D expressionSingle missense mutation
DIV(S103P)Multiple missense mutations
DIV-DOLMultiple missense mutations
DWNPartial Dhybrid allele
RHD(1166delA)Short deletion
RHD(297del23)D negativeShort deletion
RHD(519C>T)weakened D expressionSilent mutation
RHD(683del16)Short deletion
RHD(D350H)Single missense mutation
RHD(del44L)Partial DIn frame deletion
RHD(E340G)Single missense mutation
RHD(IVS1+5G>C)DELSplice site mutation
RHD(IVS2-2delA)DEL
Partial D
Short deletion
RHD(IVS6+2T>A)D negativeSplice site mutation
RHD(M218I, F223V, S225F) (obsolete)weakened D expressionMultiple missense mutations
RHD(T32N)weakened D expressionSingle missense mutation
weak D type 148weakened D expression
weak D type
Single missense mutation
weak D type 149weakened D expressionSingle missense mutation
weak D type 45.2weak D type
weakened D expression
Multiple missense mutations
weak D type 84weak D type
weakened D expression
Single missense mutation
weak D type 95weak D type
weakened D expression
Single missense mutation
weak D type 96weak D type
weakened D expression
Single missense mutation
weak D type 97weak D type
weakened D expression
Single missense mutation
weak D type 98weak D type
weakened D expression
Single missense mutation
weak D type 99weak D type
weakened D expression
Single missense mutation
2014
DAU-14D positive (no further data)Multiple missense mutations
DAU-5.1weakened D expressionMultiple missense mutations
DEL RHD(A280T)DELSingle missense mutation
RHD(1026insAC)Short insertion
RHD(1065C>T)weakened D expressionSilent mutation
RHD(1209delT)Short deletion
RHD(1228-2del21)D negativeShort deletion
RHD(1248insG)DELShort insertion
RHD(361del11)D negativeShort deletion
RHD(520G>A,1080_1989del)D negativeComplex changes
RHD(822delG)D negativeShort deletion
RHD(915delC)D negativeShort deletion
RHD(993delC)Short deletion
RHD(A354T)Partial DSingle missense mutation
RHD(F31L)DELSingle missense mutation
RHD(G368R)Single missense mutation
RHD(G385D)D negativeMissense (splice site affected)
RHD(IVS1+1G>T)DELSplice site mutation
RHD(IVS4-2A>C)Partial DSplice site mutation
RHD(IVS6+1G>A)D negativeSplice site mutation
RHD(IVS9-1G>A)Splice site mutation
RHD(K133N)weakened D expressionSingle missense mutation
RHD(L110P)-CE(3-9)-DComplex changes
RHD(L337R)D negative
DEL
Single missense mutation
RHD(L386X)D negativeSingle missense mutation
RHD(L93R)DELSingle missense mutation
RHD(N135D)Single missense mutation
RHD(N152T,V270G)Multiple missense mutations
RHD(N240H)Single missense mutation
RHD(Q89R)Single missense mutation
RHD(W393X)Nonsense mutation
RHD(X418S)Loss of stop codon
RHD(Y311C)Single missense mutation
weak D type 1.2weak D type
weakened D expression
Multiple missense mutations
weak D type 2.2weak D type
weakened D expression
Multiple missense mutations
weak D type 3.1weak D type
weakened D expression
Multiple missense mutations
weak D type 86weak D type
weakened D expression
Single missense mutation
weak D type 87weak D type
weakened D expression
Single missense mutation
weak D type 88weak D type
weakened D expression
Single missense mutation
weak D type 89weak D type
weakened D expression
Multiple missense mutations
weak D type 90weak D type
weakened D expression
Single missense mutation
weak D type 91weak D type
weakened D expression
Single missense mutation
weak D type 92weak D type
weakened D expression
Single missense mutation
2015
DEL RHD(X418K)DELLoss of stop codon
RHD(1026C>T)D negativeSilent mutation
RHD(510insG)Short insertion
RHD(A176T)Single missense mutation
RHD(D53Y)weakened D expressionSingle missense mutation
RHD(F161C)weakened D expressionSingle missense mutation
RHD(G368W,D404E)Multiple missense mutations
RHD(G96D)weakened D expressionSingle missense mutation
RHD(M1T)Loss of start codon
RHD(P313T)weakened D expressionSingle missense mutation
RHD(Q405X)D negativeNonsense mutation
RHD(R10L)Single missense mutation
RHD(S254X)D negativeNonsense mutation
RHD(W185X) [c,555G>A]D negativeNonsense mutation
RHD-cE(5-6)-Dhybrid allele
weak D type 10.2weakened D expression
weak D type
Multiple missense mutations
weak D type 101weakened D expression
weak D type
Single missense mutation
weak D type 103weakened D expression
weak D type
Single missense mutation
weak D type 105weak D type
weakened D expression
Single missense mutation
weak D type 106weak D type
weakened D expression
Single missense mutation
weak D type 107weakened D expression
weak D type
Single missense mutation
weak D type 109weakened D expression
weak D type
Single missense mutation
weak D type 110weakened D expression
weak D type
Single missense mutation
weak D type 111weakened D expression
weak D type
Single missense mutation
weak D type 112weakened D expression
weak D type
Single missense mutation
weak D type 113weak D type
weakened D expression
Single missense mutation
weak D type 114weakened D expression
weak D type
Single missense mutation
weak D type 115weakened D expression
weak D type
Single missense mutation
weak D type 116weakened D expression
weak D type
Single missense mutation
weak D type 117weakened D expression
weak D type
Single missense mutation
weak D type 121weakened D expression
weak D type
Single missense mutation
weak D type 123weakened D expression
weakened D expression
Single missense mutation
weak D type 124weakened D expression
weak D type
Single missense mutation
weak D type 125weakened D expression
weak D type
Single missense mutation
weak D type 126weak D type
weakened D expression
Single missense mutation
weak D type 128weakened D expression
weak D type
Single missense mutation
weak D type 141Partial D
weakened D expression
weak D type
Single missense mutation
weak D type 143weakened D expression
weak D type
Single missense mutation
2016
RHD(396insGG)Short insertion
RHD(53dekT)Single missense mutation
RHD(79delCTC)In frame deletion
RHD(A137V,N152T)-CE(4-6)-D(7-10)hybrid allele
RHD(D35E,A399T)weakened D expressionMultiple missense mutations
RHD(D40G)Single missense mutation
RHD(G263R,A399T)Multiple missense mutations
RHD(G307R)Single missense mutation
RHD(G385V)Single missense mutation
RHD(G96R)Single missense mutation
RHD(H166D)Single missense mutation
RHD(H72P,S73C)Multiple missense mutations
RHD(I341N)weakened D expressionSingle missense mutation
RHD(I60L)Single missense mutation
RHD(IVS7+1G>A)Splice site mutation
RHD(K189N,S257F)Multiple missense mutations
RHD(K267M)Single missense mutation
RHD(L297P)Single missense mutation
RHD(P221R)Single missense mutation
RHD(P231L)Single missense mutation
RHD(S230I)Single missense mutation
RHD(S230N)Single missense mutation
RHD(S266G,V270G)Single missense mutation
RHD(T201R,F223V,K264N,A273A)Multiple missense mutations
RHD(V147M,A399T)Multiple missense mutations
RHD(V281L)Single missense mutation
RHD(V306I,Y311C)hybrid allele
RHD(V50D)Single missense mutation
RHD(Y48C)weakened D expressionSingle missense mutation
RHD-RHCE(5:733-5:787)-RHDSingle missense mutation
RHD-RHcE[226P](5:676-5:733)-RHDhybrid allele
weak D type 10.1weak D type
weakened D expression
Multiple missense mutations
weak D type 102weakened D expression
weak D type
Single missense mutation
weak D type 132.0.1weak D typeSingle missense mutation
weak D type 135weak D type
weakened D expression
Single missense mutation
weak D type 136weak D typeSingle missense mutation
weak D type 137
weak D type
Single missense mutation
weak D type 138weak D typeSingle missense mutation
weak D type 139
weak D type
Single missense mutation
weak D type 140weakened D expression
weak D type
Single missense mutation
weak D type 142weakened D expression
weak D type
Single missense mutation
weak D type 144weakened D expression
weak D type
Single missense mutation
weak D type 155weakened D expression
weak D type
Single missense mutation
weak D type 4.4weak D typeMultiple missense mutations
weak D type 4.5weak D typeMultiple missense mutations
weak D type 41.0.1weak D type
weakened D expression
Multiple missense mutations
weak D type 93weak D type
weakened D expression
Single missense mutation
2017
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-Dhybrid allele
DKGDEL
Partial D
large deletion
RHD delEx3 type 1large deletion
RHD(1056C>G)weakened D expressionSplice site mutation
RHD(1067insA)Short insertion
RHD(208delinsTG)D negativeShort insertion
RHD(255G>A, 1227G>A,)Single missense mutation
RHD(702delG)D negativeShort deletion
RHD(843G>T)Silent mutation
RHD(9393A>C)Splice site mutation
RHD(939G>C)Splice site mutation
RHD(F223V,K267M)Multiple missense mutations
RHD(G151D)Single missense mutation
RHD(G263L,T379M)Multiple missense mutations
RHD(G308R)Single missense mutation
RHD(G381R)Single missense mutation
RHD(K235N)Single missense mutation
RHD(L20P)Single missense mutation
RHD(L258S)Single missense mutation
RHD(M118K,V174M)Partial DMultiple missense mutations
RHD(M155V)Single missense mutation
RHD(P261A)weakened D expressionSingle missense mutation
RHD(R114Q,A399T)Single missense mutation
RHD(S254L,T379M)Multiple missense mutations
RHD(T148R,T195M)Multiple missense mutations
RHD(T201R,V270G)Multiple missense mutations
RHD(V174M,G307R)Multiple missense mutations
RHD(V245L,G263R,K267M)Multiple missense mutations
RHD(V247L)Single missense mutation
RHD(V319G)Single missense mutation
RHD(Y243X)Nonsense mutation
RHD*5'UTR-115Cuntranslated region
RHD-ceAG.05(2)-Dhybrid allele
RHD-RHCE[245V](5)-RHDhybrid allele
RHDex10del type 2D negativelarge deletion
RHDex1del type 1DELlarge deletion
2018
RHCE(5:697-5:744)-RHDPartial D
weakened D expression
hybrid allele
RHD(L214F)-CE(7)-Dweakened D expression
Partial D
Single missense mutation
RHD(T201R)-CE(5)-D(I342T)weakened D expression
Partial D
Complex changes
weak D type 150weakened D expression
weak D type
large duplication
weak D type 151weak D typeSingle missense mutation
weak D type 152weak D type
weakened D expression
Single missense mutation
2019
RHD(E369K)Single missense mutation
RHD(IVS9+5G>C)weakened D expressionSplice site mutation
RHD(K394T)weakened D expressionSingle missense mutation
RHD(L378P)Single missense mutation
2020