1 |
POLR1C |
NM_203290.4(POLR1C):c.69+1G>A |
SNV |
Pathogenic
|
635139 |
rs1582177745 |
GRCh37: 6:43484917-43484917 GRCh38: 6:43517179-43517179 |
2 |
POLR1C |
NM_203290.4(POLR1C):c.70-1G>A |
SNV |
Pathogenic
|
280457 |
rs886041661 |
GRCh37: 6:43485043-43485043 GRCh38: 6:43517305-43517305 |
3 |
POLR1C |
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) |
SNV |
Pathogenic
|
211929 |
rs144054843 |
GRCh37: 6:43485053-43485053 GRCh38: 6:43517315-43517315 |
4 |
POLR1C |
NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe) |
SNV |
Pathogenic
|
635141 |
rs770637715 |
GRCh37: 6:43487507-43487507 GRCh38: 6:43519769-43519769 |
5 |
POLR1C |
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) |
SNV |
Pathogenic
|
635142 |
rs1015942660 |
GRCh37: 6:43487516-43487516 GRCh38: 6:43519778-43519778 |
6 |
POLR1C |
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) |
SNV |
Pathogenic
|
635143 |
rs1255115751 |
GRCh37: 6:43487519-43487519 GRCh38: 6:43519781-43519781 |
7 |
POLR1C |
NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro) |
SNV |
Pathogenic
|
635144 |
rs1582181247 |
GRCh37: 6:43487543-43487543 GRCh38: 6:43519805-43519805 |
8 |
POLR1C |
NM_203290.4(POLR1C):c.502G>A (p.Val168Met) |
SNV |
Pathogenic
|
635147 |
rs773388338 |
GRCh37: 6:43487923-43487923 GRCh38: 6:43520185-43520185 |
9 |
POLR1C |
NM_203290.4(POLR1C):c.616del (p.Gln206fs) |
DEL |
Pathogenic
Pathogenic
|
635148 |
rs1156407486 |
GRCh37: 6:43488125-43488125 GRCh38: 6:43520387-43520387 |
10 |
POLR1C |
NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter) |
SNV |
Pathogenic
|
280857 |
rs763593155 |
GRCh37: 6:43488406-43488406 GRCh38: 6:43520668-43520668 |
11 |
POLR1C |
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) |
SNV |
Pathogenic
|
30815 |
rs141156009 |
GRCh37: 6:43488699-43488699 GRCh38: 6:43520961-43520961 |
12 |
POLR1C |
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) |
DEL |
Pathogenic
|
635151 |
rs767639108 |
GRCh37: 6:43488778-43488782 GRCh38: 6:43521040-43521044 |
13 |
POLR1C |
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) |
SNV |
Pathogenic
|
635152 |
rs181576159 |
GRCh37: 6:43488935-43488935 GRCh38: 6:43521197-43521197 |
14 |
POLR1C |
NM_203290.4(POLR1C):c.733G>A (p.Val245Met) |
SNV |
Pathogenic
|
635149 |
rs772343871 |
GRCh37: 6:43488440-43488440 GRCh38: 6:43520702-43520702 |
15 |
POLR1C |
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) |
SNV |
Pathogenic
|
204587 |
rs371802902 |
GRCh37: 6:43487150-43487150 GRCh38: 6:43519412-43519412 |
16 |
POLR1C |
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) |
SNV |
Pathogenic
|
204588 |
rs796052124 |
GRCh37: 6:43485069-43485069 GRCh38: 6:43517331-43517331 |
17 |
POLR1C |
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) |
SNV |
Pathogenic
|
204589 |
rs796052125 |
GRCh37: 6:43487857-43487857 GRCh38: 6:43520119-43520119 |
18 |
POLR1C |
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) |
MICROSAT |
Pathogenic
|
204590 |
rs875989826 |
GRCh37: 6:43488744-43488746 GRCh38: 6:43521006-43521008 |
19 |
POLR1C |
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) |
SNV |
Pathogenic
|
204591 |
rs796052126 |
GRCh37: 6:43485051-43485051 GRCh38: 6:43517313-43517313 |
20 |
POLR1C |
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) |
SNV |
Pathogenic
|
204592 |
rs796052127 |
GRCh37: 6:43487520-43487520 GRCh38: 6:43519782-43519782 |
21 |
POLR1C |
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) |
SNV |
Pathogenic
|
635140 |
rs1305006253 |
GRCh37: 6:43487475-43487475 GRCh38: 6:43519737-43519737 |
22 |
POLR1C |
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) |
SNV |
Pathogenic
|
635145 |
rs201320592 |
GRCh37: 6:43487816-43487816 GRCh38: 6:43520078-43520078 |
23 |
POLR1C |
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs) |
DEL |
Pathogenic
|
635146 |
rs770857344 |
GRCh37: 6:43487881-43487882 GRCh38: 6:43520143-43520144 |
24 |
POLR1C |
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) |
SNV |
Pathogenic
|
285658 |
rs373046018 |
GRCh37: 6:43488082-43488082 GRCh38: 6:43520344-43520344 |
25 |
POLR1C |
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) |
SNV |
Pathogenic
|
635150 |
rs751006626 |
GRCh37: 6:43488492-43488492 GRCh38: 6:43520754-43520754 |
26 |
POLR1C |
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys) |
SNV |
Pathogenic
|
635153 |
rs1582184344 |
GRCh37: 6:43488967-43488967 GRCh38: 6:43521229-43521229 |
27 |
POLR1C |
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) |
SNV |
Pathogenic
|
30811 |
rs191582628 |
GRCh37: 6:43488700-43488700 GRCh38: 6:43520962-43520962 |
28 |
POLR1C |
NM_203290.4(POLR1C):c.614del (p.Gly205fs) |
DEL |
Pathogenic
|
375403 |
rs1057519456 |
GRCh37: 6:43488123-43488123 GRCh38: 6:43520385-43520385 |
29 |
POLR1C |
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) |
DEL |
Pathogenic
|
225445 |
rs780663139 |
GRCh37: 6:43488034-43488034 GRCh38: 6:43520296-43520296 |
30 |
POLR1C |
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) |
SNV |
Pathogenic/Likely Pathogenic
Uncertain Significance
|
375402 |
rs1057519455 |
GRCh37: 6:43485062-43485062 GRCh38: 6:43517324-43517324 |
31 |
POLR1C |
NM_203290.4(POLR1C):c.208dup (p.Ala70fs) |
DUP |
Likely Pathogenic
|
1676483 |
|
GRCh37: GRCh38: |
32 |
POLR1C |
NM_203290.4(POLR1C):c.908G>A (p.Arg303Gln) |
SNV |
Likely Pathogenic
|
1308109 |
|
GRCh37: 6:43488772-43488772 GRCh38: 6:43521034-43521034 |
33 |
POLR1C |
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) |
SNV |
Likely Pathogenic
|
548465 |
rs1554131502 |
GRCh37: 6:43487558-43487558 GRCh38: 6:43519820-43519820 |
34 |
POLR1C |
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
356872 |
rs141471029 |
GRCh37: 6:43487122-43487122 GRCh38: 6:43519384-43519384 |
35 |
POLR1C |
NM_203290.4(POLR1C):c.32G>A (p.Arg11Gln) |
SNV |
Uncertain Significance
|
1344573 |
|
GRCh37: 6:43484879-43484879 GRCh38: 6:43517141-43517141 |
36 |
POLR1C |
NM_203290.4(POLR1C):c.110A>G (p.Asp37Gly) |
SNV |
Uncertain Significance
|
522737 |
rs1004141332 |
GRCh37: 6:43485084-43485084 GRCh38: 6:43517346-43517346 |
37 |
POLR1C |
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) |
SNV |
Uncertain Significance
|
724886 |
rs148385032 |
GRCh37: 6:43487842-43487842 GRCh38: 6:43520104-43520104 |