1 |
ELANE |
NM_001972.4(ELANE):c.214G>A (p.Val72Met) |
SNV |
Pathogenic |
16744 |
rs387906553 |
19:853022-853022 |
19:853022-853022 |
2 |
ELANE |
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) |
SNV |
Pathogenic |
16746 |
rs28931611 |
19:853019-853019 |
19:853019-853019 |
3 |
ELANE |
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) |
SNV |
Pathogenic |
16748 |
rs137854451 |
19:856000-856000 |
19:856000-856000 |
4 |
ELANE |
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) |
SNV |
Pathogenic |
208494 |
rs797045009 |
19:855758-855758 |
19:855758-855758 |
5 |
TCIRG1 |
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) |
SNV |
Pathogenic |
127173 |
rs587779413 |
11:67817691-67817691 |
11:68050224-68050224 |
6 |
GFI1 |
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) |
SNV |
Pathogenic |
8739 |
rs28936381 |
1:92941710-92941710 |
1:92476153-92476153 |
7 |
ELANE |
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) |
SNV |
Pathogenic |
16743 |
rs137854448 |
19:855613-855613 |
19:855613-855613 |
8 |
ELANE |
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) |
SNV |
Pathogenic |
535843 |
rs57246956 |
19:855649-855649 |
19:855649-855649 |
9 |
ELANE |
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) |
SNV |
Pathogenic |
16740 |
rs137854447 |
19:852990-852990 |
19:852990-852990 |
10 |
ELANE |
NM_001972.4(ELANE):c.597+1G>A |
SNV |
Pathogenic |
242287 |
rs1555710005 |
19:855795-855795 |
19:855795-855795 |
11 |
ELANE |
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) |
SNV |
Pathogenic |
16745 |
rs137854450 |
19:855574-855574 |
19:855574-855574 |
12 |
ELANE |
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) |
SNV |
Pathogenic |
16738 |
rs137854445 |
19:856019-856019 |
19:856019-856019 |
13 |
ELANE |
NM_001972.4(ELANE):c.301G>A (p.Val101Met) |
SNV |
Pathogenic |
844491 |
|
19:853338-853338 |
19:853338-853338 |
14 |
ELANE |
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) |
SNV |
Pathogenic |
939547 |
|
19:855967-855967 |
19:855967-855967 |
15 |
ELANE |
NM_001972.4(ELANE):c.597+1G>A |
SNV |
Pathogenic |
242287 |
rs1555710005 |
19:855795-855795 |
19:855795-855795 |
16 |
ELANE |
NM_001972.4(ELANE):c.292G>T (p.Val98Leu) |
SNV |
Pathogenic |
16747 |
rs267606781 |
19:853329-853329 |
19:853329-853329 |
17 |
ELANE |
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) |
SNV |
Pathogenic/Likely pathogenic |
16743 |
rs137854448 |
19:855613-855613 |
19:855613-855613 |
18 |
ELANE |
NM_001972.4(ELANE):c.597+5G>A |
SNV |
Likely pathogenic |
245598 |
rs879253882 |
19:855799-855799 |
19:855799-855799 |
19 |
ELANE |
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) |
SNV |
Likely pathogenic |
836562 |
|
19:853290-853290 |
19:853290-853290 |
20 |
ELANE |
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) |
SNV |
Likely pathogenic |
952580 |
|
19:852944-852944 |
19:852944-852944 |
21 |
ELANE |
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) |
SNV |
Likely pathogenic |
842953 |
|
19:853345-853345 |
19:853345-853345 |
22 |
ELANE |
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) |
SNV |
Conflicting interpretations of pathogenicity |
696438 |
rs193141883 |
19:855721-855721 |
19:855721-855721 |
23 |
ELANE |
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) |
SNV |
Conflicting interpretations of pathogenicity |
16745 |
rs137854450 |
19:855574-855574 |
19:855574-855574 |
24 |
GFI1 |
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) |
SNV |
Conflicting interpretations of pathogenicity |
801501 |
rs777241871 |
1:92941605-92941605 |
1:92476048-92476048 |
25 |
GFI1 |
NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) |
SNV |
Uncertain significance |
943387 |
|
1:92946375-92946375 |
1:92480818-92480818 |
26 |
GFI1 |
NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) |
SNV |
Uncertain significance |
946598 |
|
1:92944159-92944159 |
1:92478602-92478602 |
27 |
GFI1 |
NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) |
SNV |
Uncertain significance |
947502 |
|
1:92946033-92946033 |
1:92480476-92480476 |
28 |
GFI1 |
NM_005263.5(GFI1):c.797C>T (p.Thr266Met) |
SNV |
Uncertain significance |
949003 |
|
1:92946032-92946032 |
1:92480475-92480475 |
29 |
GFI1 |
NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) |
SNV |
Uncertain significance |
949284 |
|
1:92946450-92946450 |
1:92480893-92480893 |
30 |
GFI1 |
NM_005263.5(GFI1):c.391G>A (p.Asp131Asn) |
SNV |
Uncertain significance |
951085 |
|
1:92946553-92946553 |
1:92480996-92480996 |
31 |
GFI1 |
NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser) |
SNV |
Uncertain significance |
954544 |
|
1:92941735-92941735 |
1:92476178-92476178 |
32 |
GFI1 |
NM_005263.5(GFI1):c.1245G>T (p.Arg415=) |
SNV |
Uncertain significance |
965429 |
|
1:92941610-92941610 |
1:92476053-92476053 |
33 |
GFI1 |
NM_005263.5(GFI1):c.923A>T (p.Gln308Leu) |
SNV |
Uncertain significance |
967970 |
|
1:92945906-92945906 |
1:92480349-92480349 |
34 |
GFI1 |
NM_005263.5(GFI1):c.477G>A (p.Pro159=) |
SNV |
Uncertain significance |
581490 |
rs1249429892 |
1:92946467-92946467 |
1:92480910-92480910 |
35 |
GFI1 |
NM_005263.5(GFI1):c.603C>T (p.Gly201=) |
SNV |
Uncertain significance |
643429 |
rs1230474672 |
1:92946341-92946341 |
1:92480784-92480784 |
36 |
GFI1 |
NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) |
SNV |
Uncertain significance |
643828 |
rs779127899 |
1:92946262-92946262 |
1:92480705-92480705 |
37 |
GFI1 |
NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) |
SNV |
Uncertain significance |
644864 |
rs1367385969 |
1:92946504-92946504 |
1:92480947-92480947 |
38 |
GFI1 |
NM_005263.5(GFI1):c.854C>T (p.Ala285Val) |
SNV |
Uncertain significance |
644949 |
rs767464450 |
1:92945975-92945975 |
1:92480418-92480418 |
39 |
GFI1 |
NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) |
SNV |
Uncertain significance |
566000 |
rs376042061 |
1:92944297-92944297 |
1:92478740-92478740 |
40 |
GFI1 |
NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) |
SNV |
Uncertain significance |
834993 |
|
1:92948528-92948528 |
1:92482971-92482971 |
41 |
GFI1 |
NM_005263.5(GFI1):c.534G>T (p.Gly178=) |
SNV |
Uncertain significance |
840261 |
|
1:92946410-92946410 |
1:92480853-92480853 |
42 |
GFI1 |
NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) |
SNV |
Uncertain significance |
840484 |
|
1:92946373-92946373 |
1:92480816-92480816 |
43 |
GFI1 |
NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) |
SNV |
Uncertain significance |
864714 |
|
1:92948971-92948971 |
1:92483414-92483414 |
44 |
ELANE |
NM_001972.4(ELANE):c.367C>G (p.Leu123Val) |
SNV |
Uncertain significance |
977499 |
|
19:855564-855564 |
19:855564-855564 |
45 |
ELANE |
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg) |
SNV |
Uncertain significance |
981519 |
|
19:853359-853359 |
19:853359-853359 |
46 |
GFI1 |
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) |
SNV |
Uncertain significance |
435318 |
rs533176227 |
1:92946513-92946513 |
1:92480956-92480956 |
47 |
ELANE |
NM_001972.4(ELANE):c.119C>T (p.Ala40Val) |
SNV |
Uncertain significance |
467828 |
rs1555709342 |
19:852927-852927 |
19:852927-852927 |
48 |
ELANE |
NM_001972.4(ELANE):c.378G>A (p.Ser126=) |
SNV |
Uncertain significance |
535839 |
rs202204133 |
19:855575-855575 |
19:855575-855575 |
49 |
ELANE |
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) |
SNV |
Uncertain significance |
535840 |
rs1555709360 |
19:852980-852980 |
19:852980-852980 |
50 |
ELANE |
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) |
SNV |
Uncertain significance |
535841 |
rs756726256 |
19:852366-852366 |
19:852366-852366 |