1 |
NMNAT1 |
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) |
SNV |
Pathogenic
|
37132 |
rs387907290 |
GRCh37: 1:10042757-10042757 GRCh38: 1:9982699-9982699 |
2 |
NMNAT1 |
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) |
SNV |
Pathogenic
|
37135 |
rs387907291 |
GRCh37: 1:10042736-10042736 GRCh38: 1:9982678-9982678 |
3 |
NMNAT1 |
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) |
SNV |
Pathogenic
|
37136 |
rs387907292 |
GRCh37: 1:10042370-10042370 GRCh38: 1:9982312-9982312 |
4 |
NMNAT1 |
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) |
SNV |
Pathogenic
|
265453 |
rs371526758 |
GRCh37: 1:10042426-10042426 GRCh38: 1:9982368-9982368 |
5 |
NMNAT1 |
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) |
SNV |
Pathogenic
|
37138 |
rs368062092 |
GRCh37: 1:10042629-10042629 GRCh38: 1:9982571-9982571 |
6 |
NMNAT1 |
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) |
SNV |
Pathogenic
|
37139 |
rs387907293 |
GRCh37: 1:10042376-10042376 GRCh38: 1:9982318-9982318 |
7 |
NMNAT1 |
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) |
SNV |
Pathogenic
|
37140 |
rs387907294 |
GRCh37: 1:10032156-10032156 GRCh38: 1:9972098-9972098 |
8 |
NMNAT1 |
NC_000001.11:g.(?_9981011)_(9982721_?)del |
DEL |
Pathogenic
|
464669 |
|
GRCh37: 1:10041069-10042779 GRCh38: 1:9981011-9982721 |
9 |
NMNAT1 |
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) |
SNV |
Pathogenic
|
464670 |
rs778606847 |
GRCh37: 1:10042635-10042635 GRCh38: 1:9982577-9982577 |
10 |
NMNAT1 |
NM_022787.4(NMNAT1):c.-69C>T |
SNV |
Pathogenic
|
978238 |
rs1175912276 |
GRCh37: 1:10003561-10003561 GRCh38: 1:9943503-9943503 |
11 |
NMNAT1 |
NC_000001.11:g.(?_9972074)_(9972188_?)del |
DEL |
Pathogenic
|
978250 |
|
GRCh37: GRCh38: 1:9972074-9972188 |
12 |
NMNAT1 |
NC_000001.11:g.(?_9972074)_(9975775_?)del |
DEL |
Pathogenic
|
978251 |
|
GRCh37: GRCh38: 1:9972074-9975775 |
13 |
NMNAT1 |
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
978252 |
rs756649389 |
GRCh37: 1:10032132-10032132 GRCh38: 1:9972074-9972074 |
14 |
NMNAT1 |
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter) |
SNV |
Pathogenic
|
978260 |
rs1345605596 |
GRCh37: 1:10042562-10042562 GRCh38: 1:9982504-9982504 |
15 |
NMNAT1 |
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) |
SNV |
Pathogenic
|
1062684 |
|
GRCh37: 1:10042419-10042419 GRCh38: 1:9982361-9982361 |
16 |
NMNAT1 |
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) |
SNV |
Pathogenic
|
438390 |
rs1271498710 |
GRCh37: 1:10035805-10035805 GRCh38: 1:9975747-9975747 |
17 |
NMNAT1 |
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) |
SNV |
Pathogenic
|
1062688 |
|
GRCh37: 1:10035779-10035779 GRCh38: 1:9975721-9975721 |
18 |
NMNAT1 |
NC_000001.10:g.(?_10027411)_(10042759_?)del |
DEL |
Pathogenic
|
1071528 |
|
GRCh37: 1:10027411-10042759 GRCh38: |
19 |
NMNAT1 |
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter) |
SNV |
Pathogenic
|
978255 |
rs1641936336 |
GRCh37: 1:10041108-10041108 GRCh38: 1:9981050-9981050 |
20 |
NMNAT1 |
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter) |
SNV |
Pathogenic
|
978256 |
rs1641937559 |
GRCh37: 1:10041165-10041165 GRCh38: 1:9981107-9981107 |
21 |
NMNAT1 |
NM_022787.4(NMNAT1):c.439+1G>C |
SNV |
Pathogenic
|
978258 |
rs1641939338 |
GRCh37: 1:10041229-10041229 GRCh38: 1:9981171-9981171 |
22 |
NMNAT1 |
NC_000001.10:g.(?_10035630)_(10041248_?)del |
DEL |
Pathogenic
|
1426207 |
|
GRCh37: 1:10035630-10041248 GRCh38: |
23 |
NMNAT1 |
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) |
SNV |
Pathogenic
|
1459432 |
|
GRCh37: 1:10035789-10035789 GRCh38: 1:9975731-9975731 |
24 |
NMNAT1 |
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) |
DEL |
Pathogenic
|
1437729 |
|
GRCh37: 1:10042385-10042385 GRCh38: 1:9982327-9982327 |
25 |
NMNAT1 |
NM_022787.4(NMNAT1):c.116-2A>G |
SNV |
Pathogenic
|
1435359 |
|
GRCh37: 1:10035648-10035648 GRCh38: 1:9975590-9975590 |
26 |
NMNAT1 |
NC_000001.10:g.(?_10041069)_(10041248_?)del |
DEL |
Pathogenic
|
1451670 |
|
GRCh37: 1:10041069-10041248 GRCh38: |
27 |
NMNAT1 |
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) |
SNV |
Pathogenic
|
866255 |
rs771336246 |
GRCh37: 1:10035827-10035827 GRCh38: 1:9975769-9975769 |
28 |
NMNAT1 |
NM_022787.4(NMNAT1):c.299+526_*968dup |
DUP |
Pathogenic
|
1050789 |
|
GRCh37: 1:10036306-10036307 GRCh38: 1:9976248-9976249 |
29 |
NMNAT1 |
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) |
SNV |
Pathogenic
|
845745 |
rs375110174 |
GRCh37: 1:10042628-10042628 GRCh38: 1:9982570-9982570 |
30 |
NMNAT1 |
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) |
SNV |
Pathogenic
|
972092 |
rs372066126 |
GRCh37: 1:10035739-10035739 GRCh38: 1:9975681-9975681 |
31 |
NMNAT1 |
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) |
DEL |
Pathogenic
|
1412405 |
|
GRCh37: 1:10041181-10041182 GRCh38: 1:9981123-9981124 |
32 |
NMNAT1 |
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) |
DEL |
Pathogenic
|
1424174 |
|
GRCh37: 1:10042591-10042591 GRCh38: 1:9982533-9982533 |
33 |
NMNAT1 |
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) |
SNV |
Pathogenic
|
982555 |
rs763325435 |
GRCh37: 1:10035730-10035730 GRCh38: 1:9975672-9975672 |
34 |
NMNAT1 |
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) |
SNV |
Pathogenic
|
37133 |
rs142968179 |
GRCh37: 1:10042538-10042538 GRCh38: 1:9982480-9982480 |
35 |
NMNAT1 |
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) |
SNV |
Pathogenic
|
37134 |
rs150726175 |
GRCh37: 1:10042688-10042688 GRCh38: 1:9982630-9982630 |
36 |
NMNAT1 |
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) |
SNV |
Pathogenic
|
190977 |
rs748902766 |
GRCh37: 1:10032184-10032184 GRCh38: 1:9972126-9972126 |
37 |
NMNAT1 |
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) |
DEL |
Pathogenic
|
871050 |
rs1413885352 |
GRCh37: 1:10041151-10041151 GRCh38: 1:9981093-9981093 |
38 |
NMNAT1 |
NM_022787.4(NMNAT1):c.115+1G>A |
SNV |
Likely Pathogenic
|
1486767 |
|
GRCh37: 1:10032247-10032247 GRCh38: 1:9972189-9972189 |
39 |
NMNAT1 |
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) |
SNV |
Likely Pathogenic
|
195375 |
rs138613460 |
GRCh37: 1:10032168-10032168 GRCh38: 1:9972110-9972110 |
40 |
NMNAT1 |
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) |
SNV |
Likely Pathogenic
|
978259 |
rs1641967500 |
GRCh37: 1:10042437-10042437 GRCh38: 1:9982379-9982379 |
41 |
NMNAT1 |
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) |
SNV |
Likely Pathogenic
|
978257 |
rs1570715470 |
GRCh37: 1:10041228-10041228 GRCh38: 1:9981170-9981170 |
42 |
NMNAT1 |
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) |
SNV |
Likely Pathogenic
|
978261 |
rs771954272 |
GRCh37: 1:10042566-10042566 GRCh38: 1:9982508-9982508 |
43 |
NMNAT1 |
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) |
SNV |
Likely Pathogenic
|
978262 |
rs1208495291 |
GRCh37: 1:10042671-10042671 GRCh38: 1:9982613-9982613 |
44 |
NMNAT1 |
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) |
SNV |
Likely Pathogenic
|
978253 |
rs1641791811 |
GRCh37: 1:10035772-10035772 GRCh38: 1:9975714-9975714 |
45 |
NMNAT1 |
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) |
SNV |
Likely Pathogenic
|
978254 |
rs1641792104 |
GRCh37: 1:10035778-10035778 GRCh38: 1:9975720-9975720 |
46 |
NMNAT1 |
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) |
SNV |
Likely Pathogenic
|
978246 |
rs1641971124 |
GRCh37: 1:10042569-10042569 GRCh38: 1:9982511-9982511 |
47 |
NMNAT1 |
NM_022787.4(NMNAT1):c.-72G>A |
SNV |
Likely Pathogenic
|
978247 |
rs1475372376 |
GRCh37: 1:10003558-10003558 GRCh38: 1:9943500-9943500 |
48 |
NMNAT1 |
NM_022787.4(NMNAT1):c.-57+4A>G |
SNV |
Likely Pathogenic
|
978248 |
rs957312118 |
GRCh37: 1:10003577-10003577 GRCh38: 1:9943519-9943519 |
49 |
NMNAT1 |
NM_022787.4(NMNAT1):c.-57G>T |
SNV |
Likely Pathogenic
|
978249 |
rs1640875002 |
GRCh37: 1:10003573-10003573 GRCh38: 1:9943515-9943515 |
50 |
NMNAT1 |
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) |
SNV |
Likely Pathogenic
|
978239 |
rs1641789657 |
GRCh37: 1:10035713-10035713 GRCh38: 1:9975655-9975655 |