1 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.149T>G (p.Phe50Cys) |
SNV |
Pathogenic
|
143045 |
rs587777590 |
GRCh37: 6:44280912-44280912 GRCh38: 6:44313175-44313175 |
2 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) |
SNV |
Pathogenic
|
143046 |
rs587777591 |
GRCh37: 6:44272809-44272809 GRCh38: 6:44305072-44305072 |
3 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) |
SNV |
Pathogenic
|
143047 |
rs543267101 |
GRCh37: 6:44268349-44268349 GRCh38: 6:44300612-44300612 |
4 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) |
SNV |
Pathogenic
|
143048 |
rs587777592 |
GRCh37: 6:44274104-44274104 GRCh38: 6:44306367-44306367 |
5 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter) |
SNV |
Pathogenic
|
982774 |
rs749701451 |
GRCh37: 6:44272054-44272054 GRCh38: 6:44304317-44304317 |
6 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) |
SNV |
Pathogenic
|
213963 |
rs200105202 |
GRCh37: 6:44278885-44278885 GRCh38: 6:44311148-44311148 |
7 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.87_88dup (p.Leu30fs) |
DUP |
Pathogenic
|
1699307 |
|
GRCh37: 6:44280972-44280973 GRCh38: 6:44313235-44313236 |
8 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1695C>G (p.Tyr565Ter) |
SNV |
Likely Pathogenic
|
1707535 |
|
GRCh37: 6:44272439-44272439 GRCh38: 6:44304702-44304702 |
9 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.781del (p.Gln261fs) |
DEL |
Likely Pathogenic
|
545896 |
rs1554148927 |
GRCh37: 6:44278149-44278149 GRCh38: 6:44310412-44310412 |
10 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.446G>A (p.Cys149Tyr) |
SNV |
Likely Pathogenic
|
1027410 |
|
GRCh37: 6:44279262-44279262 GRCh38: 6:44311525-44311525 |
11 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.385A>C (p.Thr129Pro) |
SNV |
Likely Pathogenic
|
1027411 |
|
GRCh37: 6:44279859-44279859 GRCh38: 6:44312122-44312122 |
12 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr) |
SNV |
Uncertain Significance
|
1708963 |
|
GRCh37: 6:44275119-44275119 GRCh38: 6:44307382-44307382 |
13 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr) |
SNV |
Uncertain Significance
|
1699302 |
|
GRCh37: 6:44272447-44272447 GRCh38: 6:44304710-44304710 |
14 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2598+117G>C |
SNV |
Benign
|
1185349 |
|
GRCh37: 6:44269680-44269680 GRCh38: 6:44301943-44301943 |
15 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2255+35C>A |
SNV |
Benign
|
1185350 |
|
GRCh37: 6:44270768-44270768 GRCh38: 6:44303031-44303031 |
16 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1041-29A>G |
SNV |
Benign
|
1185351 |
|
GRCh37: 6:44274797-44274797 GRCh38: 6:44307060-44307060 |
17 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA |
INSERT |
Benign
|
1185550 |
|
GRCh37: 6:44268806-44268807 GRCh38: 6:44301069-44301070 |
18 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2683-20A>G |
SNV |
Benign
|
1168141 |
|
GRCh37: 6:44269023-44269023 GRCh38: 6:44301286-44301286 |
19 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) |
SNV |
Benign
|
357059 |
rs498512 |
GRCh37: 6:44269193-44269193 GRCh38: 6:44301456-44301456 |
20 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) |
SNV |
Benign
|
1164206 |
|
GRCh37: 6:44275011-44275011 GRCh38: 6:44307274-44307274 |
21 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.243+6G>A |
SNV |
Benign
|
357082 |
rs167772 |
GRCh37: 6:44280812-44280812 GRCh38: 6:44313075-44313075 |
22 |
POLR1C, AARS2 |
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) |
SNV |
Benign
|
357055 |
rs325008 |
GRCh37: 6:44268371-44268371 GRCh38: 6:44300634-44300634 |