| Position | Substitution | Effect | Templated | Alleles |
| exon 5 |
|---|
| 25301520 | 635 | 635G>A | G212D | | weak D type 112 |
| 25301520 | 635 | 635G>T | G212V | | RHD(G212V) |
| 25301521 | 636 | 636C>A | p.Gly212Gly | | |
| 25301521 | 636 | 636C>T | | | DUC-1 |
| 25301522 | 637 | 637G>A | p.Ala213Thr | | |
| 25301522 | 637 | 637G>T | p.Ala213Ser | | |
| 25301525 | 640 | 640C>T | L214F | | RHD(I60V,S103P,F161S,L214F)
RHD(L214F)-CE(7)-D
weak D type 57 |
| 25301528 | 643 | 643T>C | F215L | | RHD(Q41X) |
| 25301531 | 646 | 646T>C | L216L | | RHD(Q41X) |
| 25301533 | 648 | 648G>C | L216F | | weak D type 154 |
| 25301534 | 649 | 649T>C | p.Trp217Arg | | |
| 25301535 | 650 | 650G>C | p.Trp217Ser | | |
| 25301537 | 652 | 652AT>G | | | RHD(652delA 653T>G) |
| 25301539 | 654 | 654G>C | M218I | | RHD psi
RHD(M218I, F223V, S225F)
RHD(M218I, F223V, S225F,Y269X)
RHDpsi-OT1 |
| 25301543 | 658 | 658T>C | W220R | | weak D type 16 |
| 25301544 | 659 | 659G>A | p.Trp220Ter | | |
| 25301544 | 659 | 659del G | p.Trp220CysfsTer9 | | |
| 25301545 | 660 | 660del G | | | RHD(660delG) |
| 25301546 | 661 | 661C>A | P221T | | weak D type 62 |
| 25301546 | 661 | 661C>T | P221S | | weak D type 27 |
| 25301547 | 662 | 662C>G | P221R | | RHD(P221R) |
| 25301552 | 667 | 667T>G | F223V | X | Ccdes-1
Ccdes-2
D-SPM
DAR1 (weak D type 4.2.0)
DAR(CE2:V50V-S68N)
DAR(T203A)
DAR-E
DAR2.1
DAU-5
DBS-0
DBS-1
DBS-2
DBT-1
DBT-2
DBU
DCS-1
DFV
DFV.1
DIII type 5
DIII type 6
DIII type 7
DIII type 9
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DIIIa150C
DIV-DOL
DLX
DOL-1
DOL-2
DOL-3
DOL-4
DTO
DV type 1
DV type 10
DV type 2
DV type 6
DV type 7
DV type 8
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHD psi
RHD(A137V,N152T)-CE(4-6)-D(7-10)
DAU-5.1
RHD(F223V,G278V)
RHD(F223V,K267M)
RHD(I60L,N152T,T201R,F223V,G263R)
weak D type 4.4
RHD(L110P)-CE(3-9)-D
DIVa-like
RHD(M218I, F223V, S225F)
RHD(M218I, F223V, S225F,Y269X)
RHD(N152T,T201R,F223V)
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD(T201R,F223V,G307R)
weak D type 4.5
RHD(T201R,F223V,K264N,A273A)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(3)--weak D type 4.0
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-cE(5-6)-D
RHDpsi-OT1
weak D type 29
RHD(I60L,S68N,K198N,F223V,G314V,I342T)
weak D type 4.0
weak D type 4.0.1
weak D type 4.1
weak D type 4.2.1 (DAR1.1)
weak D type 4.2.2 (DAR1.2)
weak D type 4.2.3 (DAR1.3)
weak D type 4.3 |
| 25301553 | 668 | 668T>C | F223S | | weak D type 141 |
| 25301554 | 669 | 669del C | p.Phe223LeufsTer6 | | |
| 25301555 | 670 | 670A>G | N224D | | weak D type 148 |
| 25301556 | 671 | 671A>C | p.Asn224Thr | | |
| 25301556 | 671 | 671A>G | N224S | | weak D type 125 |
| 25301557 | 672 | 672C>T | p.Asn224Asn | | |
| 25301559 | 674 | 674C>T | S225F | | D674
DTO
RHD psi
RHD(M218I, F223V, S225F)
RHD(M218I, F223V, S225F,Y269X)
RHDpsi-OT1 |
| 25301560 | 675 | 675T>C | p.Ser225Ser | | |
| 25301561 | 676 | 676G>C | A226P | X | DBS-0
DBS-1
DBS-2
DBU
DCS-1
DCS-2
DVI type 1
RHD-RHcE[226P](5:676-5:733)-RHD
RHD-cE(5-6)-D |
| 25301562 | 677 | 677C>A | A226D | | DCC |
| 25301565 | 680 | 680T>C | L227P | | DBA |
| 25301568 | 683 | 683T>A | L228Q | | RHD(L228Q) |
| 25301568 | 683 | 683del 16 | | | RHD(683del16) |
| 25301569 | 684 | 684del GAG | 229delR | | DVL-1 |
| 25301570 | 685 | 685del AGA | p.Arg229del | | |
| 25301571 | 686 | 686G>A | R229K | | DHR |
| 25301574 | 689 | 689G>A | S230N | | RHD(S230N) |
| 25301574 | 689 | 689G>T | S230I | | DAU-1
RHD(60L,S230I)
RHD(S230I) |
| 25301576 | 691 | 691CC>TT | P231L | | RHD(P231L) |
| 25301581 | 696 | 696C>A | p.Ile232Ile | | |
| 25301581 | 696 | 696C>T | p.Ile232Ile | | |
| 25301582 | 697 | 697G>A | E233K | | DAU-4
DHK |
| 25301582 | 697 | 697G>C | E233Q | X | Ccdes-1
Ccdes-2
DAR-E
DAR2.1
DAU-5
DBS-0
DBS-1
DBS-2
DBT-1
DBT-2
DBU
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DV type 1
DV type 10
DV type 2
DV type 4
DV type 6
DV type 7
DV type 8
DV type 9
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHCE(5:697-5:744)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
DAU-5.1
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-RHcE[226P](5:676-5:733)-RHD
RHD-cE(5-6)-D |
| 25301582 | 697 | 697del G | E233Kfs*13 | | RHD(697delG) |
| 25301585 | 700 | 700A>T | R234W | | DYU |
| 25301587 | 702 | 702del G | | | RHD(702delG) |
| 25301589 | 704 | 704A>C | K235T | | DHO |
| 25301589 | 704 | 704A>G | p.Lys235Arg | | |
| 25301590 | 705 | 705G>T | K235N | | RHD(K235N) |
| 25301590 | 705 | 705del GAA | 235delK | | DVL-2 |
| 25301592 | 707 | 707A>G | p.Asn236Ser | | |
| 25301595 | 710 | 710C>A | A237D | | RHD(A237D) |
| 25301595 | 710 | 710C>T | A237V | | weak D type 155 |
| 25301595 | 710 | 710del C | p.Val238CysfsTer8 | | |
| 25301596 | 711 | 711C>T | p.Ala237Ala | | |
| 25301596 | 711 | 711del C | | | RHD(711del C) |
| 25301597 | 712 | 712G>A | V238M | X | Ccdes-1
Ccdes-2
DBS-0
DBS-1
DBT-1
DBT-2
DBU
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DLX
DV type 10
DV type 2
DV type 6
DV type 7
DV type 8
DV type 9
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHCE(5:697-5:744)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
weak D type 1.2
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-RHcE[226P](5:676-5:733)-RHD
RHD-cE(5-6)-D |
| 25301597 | 712 | 712G>C | V238L | | RHD(V238L,V270G) |
| 25301597 | 712 | 712del G | | | RHD(712delG) |
| 25301602 | 717 | 717C>A | p.Phe239Leu | | |
| 25301602 | 717 | 717C>T | p.Phe239Phe | | |
| 25301603 | 718 | 718A>C | N240H | | RHD(N240H) |
| 25301605 | 720 | 720C>T | p.Asn240Asn | | |
| 25301606 | 721 | 721A>C | T241P | | RHD(T241P) |
| 25301607 | 722 | 722C>T | T241I | | weak D type 67 |
| 25301608 | 723 | 723C>G | p.Thr241Thr | | |
| 25301612 | 727 | 727T>A | Y243N | | weak D type 50 |
| 25301613 | 728 | 728A>G | Y243C | | weak D type 44 |
| 25301614 | 729 | 729T>A | Y243X | | RHD(Y243X) |
| 25301615 | 730 | 730G>C | A244P | | weak D type 95 |
| 25301616 | 731 | 731C>T | A244V | | weak D type 96 |
| 25301618 | 733 | 733G>C | V245L | X | DBS-1
DBT-1
DBT-2
DBU
DLX
DUC-2
DV type 10
DV type 2
DV type 7
DV type 8
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHCE(5:697-5:744)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD(V245L,G263R,K267M)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE(5:733-5:787)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-RHcE[226P](5:676-5:733)-RHD
RHD-cE(5-6)-D |
| 25301619 | 734 | 734T>G | p.Val245Gly | | |
| 25301621 | 736 | 736G>A | p.Ala246Thr | | |
| 25301622 | 737 | 737C>T | p.Ala246Val | | |
| 25301623 | 738 | 738A>G | p.Ala246Ala | | |
| 25301624 | 739 | 739G>C | V247L | | RHD(V247L)
DAU-10 |
| 25301625 | 740 | 740T>G | V247G | | weak D type 53 |
| 25301628 | 743 | 743G>C | p.Ser248Thr | | |
| 25301629 | 744 | 744C>T | | X | Ccdes-1
Ccdes-2
DAR(T203A)
DAR2.1
DBS-1
DBT-1
DBT-2
DBU
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DLX
DV type 10
DV type 2
DV type 7
DV type 8
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHCE(5:697-5:744)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
RHD(I60L,N152T,T201R,F223V,G263R)
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD(V245L,G263R,K267M)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE(5:733-5:787)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-cE(5-6)-D
RHD-ceAG.05(2)-D
weak D type 29
RHD(I60L,S68N,K198N,F223V,G314V,I342T)
weak D type 4.2.2 (DAR1.2)
weak D type 4.2.3 (DAR1.3) |
| 25301630 | 745 | 745G>A | p.Val249Met | | |
| 25301630 | 745 | 745del 13 | | | RHD(745del13)
RHD*745_757del |
| 25301636 | 751 | 751A>C | T251P | | weak D type 98 |
| 25301638 | 753 | 753A>C | p.Thr251Thr | | |
| 25301643 | 758 | 758T>A | I253N | | weak D type 63 |
| 25301643 | 758 | 758TC>AG | | | RHD(745del13) |
| 25301644 | 759 | 759C>G | p.Ile253Met | | |
| 25301646 | 761 | 761C>G | S254X | | RHD(S254X) |
| 25301646 | 761 | 761C>T | S254L | | RHD(S254L,T379M) |
| 25301648 | 763 | 763G>A | G255R | | RHD(G255R) |
| 25301651 | 766 | 766T>C | S256P | | weak D type 77 |
| 25301652 | 767 | 767C>G | S256X | | RHD(S256X) |
| 25301655 | 770 | 770C>T | S257F | | RHD(K189N,S257F)
weak D type 49 |
| 25301656 | 771 | 771C>A | p.Ser257Ser | | |
| 25301658 | 773 | 773T>C | L258S | | RHD(L258S) |
| 25301659 | 774 | 774G>C | p.Leu258Phe | | |
| 25301661 | 776 | 776C>T | p.Ala259Val | | |
| 25301664 | 779 | 779A>G | H260R | | weak D type 149 |
| 25301665 | 780 | 780C>A | H260Q | | weak D type 137 |
| 25301666 | 781 | 781C>G | P261A | | RHD(P261A) |
| 25301668 | 783 | 783C>G | p.Pro261Pro | | |
| 25301670 | 785 | 785del A | | | RHD(786del A) |
| 25301672 | 787 | 787G>A | G263R | X | Ccdes-1
Ccdes-2
DBS-1
DBT-1
DBT-2
DBU
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DLX
DV type 10
DV type 2
DV type 7
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
weak D type 100
RHD(G263R,A399T)
RHD(I60L,N152T,T201R,F223V,G263R)
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD(V245L,G263R,K267M)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE(5:733-5:787)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-cE(5-6)-D |
| 25301672 | 787 | 787GG>TT | G263L | | RHD(G263L,T379M) |
| 25301677 | 792 | 792G>T | K264N | | RHD(T201R,F223V,K264N,A273A) |
| 25301680 | 795 | 795C>A | p.Ile265Ile | | |
| 25301680 | 795 | 795C>G | p.Ile265Met | | |
| 25301681 | 796 | 796A>G | S266G | | RHD(S266G,V270G) |
| 25301685 | 800 | 800A>T | K267M | X | Ccdes-1
Ccdes-2
DBS-1
DBT-1
DBT-2
DBU
DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
DLX
DV type 10
DV type 2
DVI type 1
DVI type 2
DVI type 3
DVI type 3.2
DVI type 4
RHCE(1-9)-RHD
RHD(A137V,N152T)-CE(4-6)-D(7-10)
RHD(F223V,K267M)
RHD(K267M)
RHD(L110P)-CE(3-9)-D
RHD(S68T)-RHCe(3-9)-RHD
RHD(T201R)-CE(5)-D(I342T)
RHD(V245L,G263R,K267M)
RHD-RHCE(2-10)
RHD-RHCE(2-5)-RHD
RHD-RHCE(4-7)-RHD
RHD-RHCE(4-7)-RHD1
RHD-RHCE(4-7)-RHD2
RHD-RHCE(4-8)-RHD
RHD-RHCE(4-9)-RHD
RHD-RHCE[245V](5)-RHD
RHD-RHCe(2-7)-RHD
RHD-RHCe(2-9)-RHD
RHD-RHCe(2-9)-RHD1
RHD-RHCe(2-9)-RHD2
RHD-cE(5-6)-D |