1 |
LOC106099064, HBG1 |
NM_000559.3(HBG1):c.-29G>A |
SNV |
Pathogenic
|
1048099 |
rs368698783 |
GRCh37: 11:5271063-5271063 GRCh38: 11:5249833-5249833 |
2 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.316-106C>G |
SNV |
Pathogenic
|
15457 |
rs34690599 |
GRCh37: 11:5247062-5247062 GRCh38: 11:5225832-5225832 |
3 |
LOC106099062, LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.315+1G>A |
SNV |
Pathogenic
|
15438 |
rs33945777 |
GRCh37: 11:5247806-5247806 GRCh38: 11:5226576-5226576 |
4 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) |
SNV |
Pathogenic
|
15402 |
rs11549407 |
GRCh37: 11:5248004-5248004 GRCh38: 11:5226774-5226774 |
5 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.93-21G>A |
SNV |
Pathogenic
Pathogenic
|
15454 |
rs35004220 |
GRCh37: 11:5248050-5248050 GRCh38: 11:5226820-5226820 |
6 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.92+6T>C |
SNV |
Pathogenic
Uncertain Significance
|
15450 |
rs35724775 |
GRCh37: 11:5248154-5248154 GRCh38: 11:5226924-5226924 |
7 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.92+5G>C |
SNV |
Pathogenic
|
15447 |
rs33915217 |
GRCh37: 11:5248155-5248155 GRCh38: 11:5226925-5226925 |
8 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.92+1G>A |
SNV |
Pathogenic
Pathogenic
|
15436 |
rs33971440 |
GRCh37: 11:5248159-5248159 GRCh38: 11:5226929-5226929 |
9 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) |
SNV |
Pathogenic
|
15401 |
rs33986703 |
GRCh37: 11:5248200-5248200 GRCh38: 11:5226970-5226970 |
10 |
HBB, LOC106099062, LOC107133510 |
NM_000518.5(HBB):c.-79A>G |
SNV |
Pathogenic
|
15469 |
rs34598529 |
GRCh37: 11:5248330-5248330 GRCh38: 11:5227100-5227100 |
11 |
HBB, LOC106099062, LOC107133510 |
NM_000518.4(HBB):c.-137C>A |
SNV |
Pathogenic
|
36285 |
rs33941377 |
GRCh37: 11:5248388-5248388 GRCh38: 11:5227158-5227158 |
12 |
HBB |
HBB, 106-KB DEL |
INSERT |
Pathogenic
Pathogenic
|
29751 |
|
GRCh37: GRCh38: |
13 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.126_129del (p.Phe42fs) |
DEL |
Pathogenic
|
15417 |
rs80356821 |
GRCh37: 11:5247993-5247996 GRCh38: 11:5226763-5226766 |
14 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.20A>T (p.Glu7Val) |
SNV |
Pathogenic
Pathogenic
Likely Benign
|
15333 |
rs334 |
GRCh37: 11:5248232-5248232 GRCh38: 11:5227002-5227002 |
15 |
LOC106099062, HBB, LOC107133510 |
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) |
SNV |
Pathogenic
|
15126 |
rs33930165 |
GRCh37: 11:5248233-5248233 GRCh38: 11:5227003-5227003 |
16 |
LOC110006319, HBB, LOC107133510 |
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) |
SNV |
Pathogenic
|
15292 |
rs33946267 |
GRCh37: 11:5246908-5246908 GRCh38: 11:5225678-5225678 |
17 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) |
SNV |
Pathogenic
|
15161 |
rs33950507 |
GRCh37: 11:5248173-5248173 GRCh38: 11:5226943-5226943 |
18 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.17_18del (p.Pro6fs) |
DEL |
Pathogenic
|
15422 |
rs34889882 |
GRCh37: 11:5248234-5248235 GRCh38: 11:5227004-5227005 |
19 |
HBG2, LOC106099065 |
NM_000184.2(HBG2):c.-167C>T |
SNV |
Pathogenic
|
14990 |
rs34809449 |
GRCh37: 11:5276125-5276125 GRCh38: 11:5254895-5254895 |
20 |
HBG2, LOC106099065 |
NM_000184.2(HBG2):c.-167C>A |
SNV |
Pathogenic
|
15001 |
rs34809449 |
GRCh37: 11:5276125-5276125 GRCh38: 11:5254895-5254895 |
21 |
HBG1, LOC106099064 |
NM_000559.2(HBG1):c.-170G>A |
SNV |
Pathogenic
|
15030 |
rs35378915 |
GRCh37: 11:5271204-5271204 GRCh38: 11:5249974-5249974 |
22 |
HBG1, LOC106099064 |
NM_000559.2(HBG1):c.-53-198T>C |
SNV |
Pathogenic
|
15031 |
rs35710727 |
GRCh37: 11:5271285-5271285 GRCh38: 11:5250055-5250055 |
23 |
HBG1, LOC106099064 |
NM_000559.2(HBG1):c.-53-196C>T |
SNV |
Pathogenic
|
15033 |
rs35983258 |
GRCh37: 11:5271283-5271283 GRCh38: 11:5250053-5250053 |
24 |
HBG1, LOC106099064 |
NM_000559.2(HBG1):c.-53-195C>G |
SNV |
Pathogenic
|
15034 |
rs35321913 |
GRCh37: 11:5271282-5271282 GRCh38: 11:5250052-5250052 |
25 |
HBG1, LOC106099064 |
NM_000559.2(HBG1):c.-167C>T |
SNV |
Pathogenic
|
15035 |
rs281860601 |
GRCh37: 11:5271201-5271201 GRCh38: 11:5249971-5249971 |
26 |
HBG1, LOC106099064 |
NG_000007.3:g.47601C>T |
SNV |
Pathogenic
|
15040 |
|
GRCh37: 11:5271245-5271245 GRCh38: 11:5250015-5250015 |
27 |
HBG2 |
NG_000007.3:g.42268T>G |
SNV |
Pathogenic
|
29754 |
|
GRCh37: 11:5276578-5276578 GRCh38: 11:5255348-5255348 |
28 |
HBG2, LOC106099065 |
NM_000184.2(HBG2):c.-255C>G |
SNV |
Pathogenic
|
14982 |
rs35617911 |
GRCh37: 11:5276213-5276213 GRCh38: 11:5254983-5254983 |
29 |
HBG2, LOC106099065 |
NM_000184.2(HBG2):c.-228T>C |
SNV |
Pathogenic
|
14983 |
rs63750654 |
GRCh37: 11:5276186-5276186 GRCh38: 11:5254956-5254956 |
30 |
LOC106099062, HBB, LOC107133510 |
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) |
SNV |
Likely Pathogenic
Uncertain Significance
Not Provided
|
15138 |
rs33947415 |
GRCh37: 11:5247914-5247914 GRCh38: 11:5226684-5226684 |
31 |
HBB, LOC106099062, LOC107133510 |
NM_000518.5(HBB):c.-138C>A |
SNV |
Likely Pathogenic
|
393701 |
rs33944208 |
GRCh37: 11:5248389-5248389 GRCh38: 11:5227159-5227159 |
32 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.*59A>G |
SNV |
Uncertain Significance
|
878836 |
rs1345009528 |
GRCh37: 11:5246769-5246769 GRCh38: 11:5225539-5225539 |
33 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.*18C>A |
SNV |
Uncertain Significance
|
879417 |
rs1348310843 |
GRCh37: 11:5246810-5246810 GRCh38: 11:5225580-5225580 |
34 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.85C>T (p.Leu29=) |
SNV |
Uncertain Significance
|
879840 |
rs33958088 |
GRCh37: 11:5248167-5248167 GRCh38: 11:5226937-5226937 |
35 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.384G>C (p.Gln128His) |
SNV |
Uncertain Significance
|
1098525 |
|
GRCh37: 11:5246888-5246888 GRCh38: 11:5225658-5225658 |
36 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.*53C>A |
SNV |
Uncertain Significance
|
305001 |
rs886048393 |
GRCh37: 11:5246775-5246775 GRCh38: 11:5225545-5225545 |
37 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.*56A>T |
SNV |
Uncertain Significance
|
305000 |
rs537944366 |
GRCh37: 11:5246772-5246772 GRCh38: 11:5225542-5225542 |
38 |
HBD |
NM_000519.4(HBD):c.*91G>A |
SNV |
Uncertain Significance
|
305002 |
rs886048394 |
GRCh37: 11:5254103-5254103 GRCh38: 11:5232873-5232873 |
39 |
LOC106099063, HBD |
NM_000519.4(HBD):c.76G>A (p.Gly26Ser) |
SNV |
Uncertain Significance
|
305005 |
rs886048395 |
GRCh37: 11:5255588-5255588 GRCh38: 11:5234358-5234358 |
40 |
HBD |
NM_000519.4(HBD):c.*59C>G |
SNV |
Uncertain Significance
|
305003 |
rs755421119 |
GRCh37: 11:5254135-5254135 GRCh38: 11:5232905-5232905 |
41 |
LOC106099063, HBD |
NM_000519.4(HBD):c.225C>T (p.Gly75=) |
SNV |
Uncertain Significance
|
305004 |
rs113727122 |
GRCh37: 11:5255311-5255311 GRCh38: 11:5234081-5234081 |
42 |
HBD |
NM_000519.4(HBD):c.*96G>T |
SNV |
Uncertain Significance
|
879524 |
rs1042760103 |
GRCh37: 11:5254098-5254098 GRCh38: 11:5232868-5232868 |
43 |
HBD |
NM_000519.4(HBD):c.*65T>C |
SNV |
Uncertain Significance
|
879525 |
rs1847687778 |
GRCh37: 11:5254129-5254129 GRCh38: 11:5232899-5232899 |
44 |
LOC106099063, HBD |
NM_000519.4(HBD):c.97C>T (p.Leu33=) |
SNV |
Uncertain Significance
|
879526 |
rs746437742 |
GRCh37: 11:5255439-5255439 GRCh38: 11:5234209-5234209 |
45 |
LOC106099063, HBD |
NM_000519.4(HBD):c.83C>A (p.Ala28Asp) |
SNV |
Uncertain Significance
|
879527 |
rs751533248 |
GRCh37: 11:5255581-5255581 GRCh38: 11:5234351-5234351 |
46 |
LOC110006319, HBB, LOC107133510 |
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) |
SNV |
Uncertain Significance
|
15152 |
rs33946267 |
GRCh37: 11:5246908-5246908 GRCh38: 11:5225678-5225678 |
47 |
LOC110006319, HBB, LOC107133510 |
NM_000518.5(HBB):c.324C>T (p.Gly108=) |
SNV |
Uncertain Significance
|
36322 |
rs193922562 |
GRCh37: 11:5246948-5246948 GRCh38: 11:5225718-5225718 |
48 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.294C>T (p.His98=) |
SNV |
Uncertain Significance
|
439783 |
rs34515413 |
GRCh37: 11:5247828-5247828 GRCh38: 11:5226598-5226598 |
49 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.274C>T (p.Leu92=) |
SNV |
Uncertain Significance
|
439144 |
rs769583496 |
GRCh37: 11:5247848-5247848 GRCh38: 11:5226618-5226618 |
50 |
LOC106099062, HBB, LOC107133510 |
NM_000518.5(HBB):c.-31C>T |
SNV |
Uncertain Significance
|
36291 |
rs63750628 |
GRCh37: 11:5248282-5248282 GRCh38: 11:5227052-5227052 |