1 |
SEPSECS |
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) |
SNV |
Pathogenic
|
18401 |
rs267607035 |
GRCh37: 4:25153671-25153671 GRCh38: 4:25152049-25152049 |
2 |
TBC1D23 |
NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs) |
MICROSAT |
Pathogenic
|
397553 |
|
GRCh37: 3:100029306-100029307 GRCh38: 3:100310462-100310463 |
3 |
TBC1D23 |
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) |
INDEL |
Pathogenic
|
397554 |
rs1553730885 |
GRCh37: 3:100029359-100029359 GRCh38: 3:100310515-100310515 |
4 |
TBC1D23 |
NM_001199198.3(TBC1D23):c.1687+2T>G |
SNV |
Pathogenic
|
397555 |
|
GRCh37: 3:100035033-100035033 GRCh38: 3:100316189-100316189 |
5 |
RARS2 |
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) |
SNV |
Pathogenic
|
632596 |
rs1258569046 |
GRCh37: 6:88239290-88239290 GRCh38: 6:87529572-87529572 |
6 |
RARS2 |
NM_020320.5(RARS2):c.3G>A (p.Met1Ile) |
SNV |
Pathogenic
|
1070705 |
|
GRCh37: 6:88299673-88299673 GRCh38: 6:87589955-87589955 |
7 |
VPS53 |
NM_001128159.3(VPS53):c.1556+5G>A |
SNV |
Pathogenic
|
139445 |
rs587777466 |
GRCh37: 17:465738-465738 GRCh38: 17:562498-562498 |
8 |
TSEN54 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
SNV |
Pathogenic
|
2120 |
rs113994152 |
GRCh37: 17:73518081-73518081 GRCh38: 17:75522000-75522000 |
9 |
MINPP1 |
NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs) |
MICROSAT |
Pathogenic
|
1300179 |
|
GRCh37: 10:89280884-89280885 GRCh38: 10:87521127-87521128 |
10 |
RARS2 |
NM_020320.5(RARS2):c.472_474del (p.Lys158del) |
DEL |
Likely Pathogenic
|
215072 |
rs757743894 |
GRCh37: 6:88255395-88255397 GRCh38: 6:87545677-87545679 |
11 |
RARS2 |
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) |
SNV |
Likely Pathogenic
|
618855 |
rs759331139 |
GRCh37: 6:88228357-88228357 GRCh38: 6:87518639-87518639 |
12 |
EXOSC3 |
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) |
SNV |
Likely Pathogenic
|
129024 |
rs374550999 |
GRCh37: 9:37784804-37784804 GRCh38: 9:37784807-37784807 |
13 |
EXOSC3 |
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter) |
SNV |
Likely Pathogenic
|
1723242 |
|
GRCh37: 9:37782053-37782053 GRCh38: 9:37782056-37782056 |
14 |
VPS53 |
NM_001128159.3(VPS53):c.1787+1G>A |
SNV |
Likely Pathogenic
|
1723295 |
|
GRCh37: 17:456619-456619 GRCh38: 17:553379-553379 |
15 |
AMPD2 |
NM_001368809.2(AMPD2):c.646del (p.Leu216fs) |
DEL |
Likely Pathogenic
|
1723362 |
|
GRCh37: 1:110169461-110169461 GRCh38: 1:109626839-109626839 |
16 |
TSEN2 |
NM_025265.4(TSEN2):c.1099+1G>A |
SNV |
Likely Pathogenic
|
1428757 |
|
GRCh37: 3:12560697-12560697 GRCh38: 3:12519198-12519198 |
17 |
VPS53 |
NM_001128159.3(VPS53):c.594del (p.Gln199fs) |
DEL |
Likely Pathogenic
|
1722367 |
|
GRCh37: 17:556545-556545 GRCh38: 17:653305-653305 |
18 |
RARS2 |
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) |
SNV |
Likely Pathogenic
|
215064 |
rs34647222 |
GRCh37: 6:88231191-88231191 GRCh38: 6:87521473-87521473 |
19 |
RARS2 |
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) |
SNV |
Likely Pathogenic
|
872611 |
rs199862050 |
GRCh37: 6:88299674-88299674 GRCh38: 6:87589956-87589956 |
20 |
PPIL1 |
NM_016059.5(PPIL1):c.280+1G>A |
SNV |
Likely Pathogenic
|
1065403 |
|
GRCh37: 6:36824361-36824361 GRCh38: 6:36856585-36856585 |
21 |
RARS2 |
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) |
SNV |
Likely Pathogenic
|
402195 |
rs775295739 |
GRCh37: 6:88228436-88228436 GRCh38: 6:87518718-87518718 |
22 |
RARS2 |
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) |
SNV |
Likely Pathogenic
|
215055 |
rs772887102 |
GRCh37: 6:88258341-88258341 GRCh38: 6:87548623-87548623 |
23 |
TSEN2 |
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) |
SNV |
Likely Pathogenic
|
2125 |
rs113994149 |
GRCh37: 3:12558126-12558126 GRCh38: 3:12516627-12516627 |
24 |
VPS53 |
NM_001128159.3(VPS53):c.1312_1313+2del |
DEL |
Likely Pathogenic
|
554119 |
rs768997239 |
GRCh37: 17:489508-489511 GRCh38: 17:586268-586271 |
25 |
TSEN2 |
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) |
SNV |
Likely Pathogenic
|
1334773 |
|
GRCh37: 3:12574176-12574176 GRCh38: 3:12532677-12532677 |
26 |
PPIL1 |
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) |
SNV |
Likely Pathogenic
|
929944 |
rs1774516234 |
GRCh37: 6:36839572-36839572 GRCh38: 6:36871796-36871796 |
27 |
PPIL1 |
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) |
SNV |
Likely Pathogenic
|
930026 |
rs553128312 |
GRCh37: 6:36823711-36823711 GRCh38: 6:36855935-36855935 |
28 |
PPIL1 |
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) |
SNV |
Likely Pathogenic
|
1065399 |
|
GRCh37: 6:36823795-36823795 GRCh38: 6:36856019-36856019 |
29 |
PPIL1 |
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) |
SNV |
Likely Pathogenic
|
1065400 |
|
GRCh37: 6:36823771-36823771 GRCh38: 6:36855995-36855995 |
30 |
VPS53 |
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter) |
SNV |
Likely Pathogenic
|
1696170 |
|
GRCh37: 17:530519-530519 GRCh38: 17:627279-627279 |
31 |
TSEN54 |
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) |
DEL |
Likely Pathogenic
|
160129 |
rs587784476 |
GRCh37: 17:73519765-73519765 GRCh38: 17:75523684-75523684 |
32 |
VPS53 |
NC_000017.10:g.(?_411907)_(618097_?)del |
DEL |
Likely Pathogenic
|
1698617 |
|
GRCh37: 17:411907-618097 GRCh38: |
33 |
EXOSC3 |
NM_016042.4(EXOSC3):c.624_626+1del |
DEL |
Likely Pathogenic
|
1329042 |
|
GRCh37: 9:37781982-37781985 GRCh38: 9:37781985-37781988 |
34 |
TSEN54 |
NM_207346.3(TSEN54):c.1535del (p.Phe512fs) |
DEL |
Likely Pathogenic
|
1329073 |
|
GRCh37: 17:73520446-73520446 GRCh38: 17:75524365-75524365 |
35 |
VRK1 |
NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del |
DEL |
Likely Pathogenic
|
1339714 |
|
GRCh37: 14:97313682-97326893 GRCh38: |
36 |
RARS2 |
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs) |
DEL |
Likely Pathogenic
|
1343696 |
|
GRCh37: 6:88224694-88224697 GRCh38: 6:87514976-87514979 |
37 |
HEATR5B |
NM_019024.3(HEATR5B):c.5051-1G>A |
SNV |
Likely Pathogenic
|
992892 |
rs1667163007 |
GRCh37: 2:37229716-37229716 GRCh38: 2:37002573-37002573 |
38 |
HEATR5B |
NM_019024.3(HEATR5B):c.5050+4A>G |
SNV |
Likely Pathogenic
|
992893 |
rs1667224478 |
GRCh37: 2:37230681-37230681 GRCh38: 2:37003538-37003538 |
39 |
CDC40 |
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) |
SNV |
Likely Pathogenic
|
1065404 |
|
GRCh37: 6:110550122-110550122 GRCh38: 6:110228919-110228919 |
40 |
PPIL1 |
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) |
SNV |
Likely Pathogenic
|
1344820 |
|
GRCh37: 6:36824409-36824409 GRCh38: 6:36856633-36856633 |
41 |
PPIL1 |
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) |
SNV |
Likely Pathogenic
|
1344821 |
|
GRCh37: 6:36823698-36823698 GRCh38: 6:36855922-36855922 |
42 |
PPIL1 |
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) |
DUP |
Likely Pathogenic
|
1344822 |
|
GRCh37: 6:36823771-36823772 GRCh38: 6:36855995-36855996 |
43 |
PPIL1 |
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) |
SNV |
Likely Pathogenic
|
1344823 |
|
GRCh37: 6:36823765-36823765 GRCh38: 6:36855989-36855989 |
44 |
PPIL1 |
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) |
SNV |
Likely Pathogenic
|
1344824 |
|
GRCh37: 6:36824397-36824397 GRCh38: 6:36856621-36856621 |
45 |
TSEN54 |
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) |
SNV |
Uncertain Significance
|
160124 |
rs200434678 |
GRCh37: 17:73518276-73518276 GRCh38: 17:75522195-75522195 |
46 |
TSEN2 |
NM_025265.4(TSEN2):c.-382A>C |
SNV |
Uncertain Significance
|
343052 |
rs886057904 |
GRCh37: 3:12526015-12526015 GRCh38: 3:12484516-12484516 |
47 |
TSEN2 |
NM_025265.4(TSEN2):c.-293A>G |
SNV |
Uncertain Significance
|
901985 |
rs1486288895 |
GRCh37: 3:12526104-12526104 GRCh38: 3:12484605-12484605 |
48 |
TSEN2 |
NM_025265.4(TSEN2):c.-224G>C |
SNV |
Uncertain Significance
|
901986 |
rs1175377888 |
GRCh37: 3:12526173-12526173 GRCh38: 3:12484674-12484674 |
49 |
TSEN2 |
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) |
SNV |
Uncertain Significance
|
902059 |
rs760813133 |
GRCh37: 3:12545152-12545152 GRCh38: 3:12503653-12503653 |
50 |
TSEN2 |
NM_025265.4(TSEN2):c.*430G>A |
SNV |
Uncertain Significance
|
902115 |
rs145164317 |
GRCh37: 3:12574650-12574650 GRCh38: 3:12533151-12533151 |