1 |
IMPDH1 |
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) |
SNV |
Pathogenic
|
14838 |
rs121912554 |
GRCh37: 7:128040174-128040174 GRCh38: 7:128400120-128400120 |
2 |
IMPDH1 |
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) |
SNV |
Likely Pathogenic
|
374177 |
rs1057518949 |
GRCh37: 7:128038614-128038614 GRCh38: 7:128398560-128398560 |
3 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) |
SNV |
Uncertain Significance
|
194611 |
rs150628823 |
GRCh37: 7:128034396-128034396 GRCh38: 7:128394342-128394342 |
4 |
IMPDH1 |
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) |
SNV |
Uncertain Significance
|
813046 |
rs946898300 |
GRCh37: 7:128049885-128049885 GRCh38: 7:128409831-128409831 |
5 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) |
SNV |
Uncertain Significance
|
450043 |
rs370988040 |
GRCh37: 7:128038512-128038512 GRCh38: 7:128398458-128398458 |
6 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) |
SNV |
Uncertain Significance
|
560464 |
rs564132747 |
GRCh37: 7:128035060-128035060 GRCh38: 7:128395006-128395006 |
7 |
IMPDH1 |
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) |
SNV |
Uncertain Significance
|
14837 |
rs121912553 |
GRCh37: 7:128040882-128040882 GRCh38: 7:128400828-128400828 |
8 |
IMPDH1 |
NM_000883.4(IMPDH1):c.146+9C>T |
SNV |
Uncertain Significance
|
358880 |
rs749118285 |
GRCh37: 7:128049801-128049801 GRCh38: 7:128409747-128409747 |
9 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*259G>A |
SNV |
Uncertain Significance
|
358863 |
rs535964010 |
GRCh37: 7:128032802-128032802 GRCh38: 7:128392748-128392748 |
10 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*231C>G |
SNV |
Uncertain Significance
|
358866 |
rs1042267 |
GRCh37: 7:128032830-128032830 GRCh38: 7:128392776-128392776 |
11 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) |
SNV |
Uncertain Significance
|
358874 |
rs780213373 |
GRCh37: 7:128035240-128035240 GRCh38: 7:128395186-128395186 |
12 |
IMPDH1 |
NM_000883.4(IMPDH1):c.-59G>A |
SNV |
Uncertain Significance
|
358881 |
rs886061985 |
GRCh37: 7:128050014-128050014 GRCh38: 7:128409960-128409960 |
13 |
IMPDH1 |
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) |
SNV |
Uncertain Significance
|
358878 |
rs144659635 |
GRCh37: 7:128040404-128040404 GRCh38: 7:128400350-128400350 |
14 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) |
SNV |
Uncertain Significance
|
358872 |
rs147882304 |
GRCh37: 7:128034551-128034551 GRCh38: 7:128394497-128394497 |
15 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) |
SNV |
Uncertain Significance
|
358875 |
rs199623010 |
GRCh37: 7:128035252-128035252 GRCh38: 7:128395198-128395198 |
16 |
IMPDH1 |
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) |
SNV |
Uncertain Significance
|
358877 |
rs72624957 |
GRCh37: 7:128038654-128038654 GRCh38: 7:128398600-128398600 |
17 |
IMPDH1 |
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) |
SNV |
Uncertain Significance
|
197169 |
rs547740249 |
GRCh37: 7:128045838-128045838 GRCh38: 7:128405784-128405784 |
18 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) |
SNV |
Uncertain Significance
Likely Benign
|
193819 |
rs72624961 |
GRCh37: 7:128037043-128037043 GRCh38: 7:128396989-128396989 |
19 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) |
SNV |
Uncertain Significance
|
909033 |
rs756992593 |
GRCh37: 7:128034615-128034615 GRCh38: 7:128394561-128394561 |
20 |
IMPDH1 |
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) |
SNV |
Uncertain Significance
|
772300 |
rs150531977 |
GRCh37: 7:128038612-128038612 GRCh38: 7:128398558-128398558 |
21 |
IMPDH1 |
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) |
SNV |
Uncertain Significance
|
855604 |
rs145014241 |
GRCh37: 7:128040182-128040182 GRCh38: 7:128400128-128400128 |
22 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) |
SNV |
Uncertain Significance
|
910797 |
rs763999626 |
GRCh37: 7:128035310-128035310 GRCh38: 7:128395256-128395256 |
23 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) |
SNV |
Uncertain Significance
|
910798 |
rs375914533 |
GRCh37: 7:128036689-128036689 GRCh38: 7:128396635-128396635 |
24 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) |
SNV |
Uncertain Significance
|
707014 |
rs61751223 |
GRCh37: 7:128037009-128037009 GRCh38: 7:128396955-128396955 |
25 |
IMPDH1 |
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) |
SNV |
Uncertain Significance
|
910850 |
rs1042250 |
GRCh37: 7:128040889-128040889 GRCh38: 7:128400835-128400835 |
26 |
IMPDH1 |
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) |
SNV |
Uncertain Significance
|
857776 |
rs150278198 |
GRCh37: 7:128041130-128041130 GRCh38: 7:128401076-128401076 |
27 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) |
SNV |
Uncertain Significance
|
711446 |
rs201803921 |
GRCh37: 7:128034536-128034536 GRCh38: 7:128394482-128394482 |
28 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) |
SNV |
Uncertain Significance
|
729916 |
rs139785999 |
GRCh37: 7:128034542-128034542 GRCh38: 7:128394488-128394488 |
29 |
IMPDH1 |
NM_000883.4(IMPDH1):c.255-10C>T |
SNV |
Uncertain Significance
|
912068 |
rs1478038443 |
GRCh37: 7:128045929-128045929 GRCh38: 7:128405875-128405875 |
30 |
IMPDH1 |
NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) |
SNV |
Uncertain Significance
|
767199 |
rs143796089 |
GRCh37: 7:128049496-128049496 GRCh38: 7:128409442-128409442 |
31 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) |
SNV |
Uncertain Significance
|
636175 |
rs144498273 |
GRCh37: 7:128034606-128034606 GRCh38: 7:128394552-128394552 |
32 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*202C>T |
SNV |
Uncertain Significance
|
358869 |
rs886061982 |
GRCh37: 7:128032859-128032859 GRCh38: 7:128392805-128392805 |
33 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*631C>T |
SNV |
Uncertain Significance
|
358859 |
rs760544024 |
GRCh37: 7:128032430-128032430 GRCh38: 7:128392376-128392376 |
34 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*223C>G |
SNV |
Uncertain Significance
|
358868 |
rs543042380 |
GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784 |
35 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*321G>A |
SNV |
Uncertain Significance
|
358862 |
rs571536404 |
GRCh37: 7:128032740-128032740 GRCh38: 7:128392686-128392686 |
36 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*258C>T |
SNV |
Uncertain Significance
|
358864 |
rs886061981 |
GRCh37: 7:128032803-128032803 GRCh38: 7:128392749-128392749 |
37 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) |
SNV |
Uncertain Significance
|
358871 |
rs886061984 |
GRCh37: 7:128034406-128034406 GRCh38: 7:128394352-128394352 |
38 |
IMPDH1 |
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) |
SNV |
Uncertain Significance
|
358879 |
rs201071873 |
GRCh37: 7:128040436-128040436 GRCh38: 7:128400382-128400382 |
39 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*256T>C |
SNV |
Uncertain Significance
|
358865 |
rs752294619 |
GRCh37: 7:128032805-128032805 GRCh38: 7:128392751-128392751 |
40 |
IMPDH1, LOC107986845 |
NM_000883.4(IMPDH1):c.*722C>T |
SNV |
Uncertain Significance
|
358857 |
rs886061980 |
GRCh37: 7:128032339-128032339 GRCh38: 7:128392285-128392285 |
41 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*105T>A |
SNV |
Uncertain Significance
|
358870 |
rs886061983 |
GRCh37: 7:128032956-128032956 GRCh38: 7:128392902-128392902 |
42 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*321G>T |
SNV |
Uncertain Significance
|
358861 |
rs571536404 |
GRCh37: 7:128032740-128032740 GRCh38: 7:128392686-128392686 |
43 |
IMPDH1 |
NM_000883.4(IMPDH1):c.-13C>T |
SNV |
Uncertain Significance
|
908060 |
rs1373186956 |
GRCh37: 7:128049968-128049968 GRCh38: 7:128409914-128409914 |
44 |
IMPDH1 |
NM_000883.4(IMPDH1):c.-17T>C |
SNV |
Uncertain Significance
|
908061 |
rs1799034671 |
GRCh37: 7:128049972-128049972 GRCh38: 7:128409918-128409918 |
45 |
IMPDH1, LOC107986845 |
NM_000883.4(IMPDH1):c.*694C>A |
SNV |
Uncertain Significance
|
908908 |
rs1179467429 |
GRCh37: 7:128032367-128032367 GRCh38: 7:128392313-128392313 |
46 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*642G>A |
SNV |
Uncertain Significance
|
908909 |
rs574318258 |
GRCh37: 7:128032419-128032419 GRCh38: 7:128392365-128392365 |
47 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*223C>T |
SNV |
Uncertain Significance
|
908976 |
rs543042380 |
GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784 |
48 |
IMPDH1 |
NM_000883.4(IMPDH1):c.*223C>A |
SNV |
Uncertain Significance
|
908977 |
rs543042380 |
GRCh37: 7:128032838-128032838 GRCh38: 7:128392784-128392784 |
49 |
IMPDH1 |
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) |
SNV |
Uncertain Significance
|
909034 |
rs367951647 |
GRCh37: 7:128034631-128034631 GRCh38: 7:128394577-128394577 |
50 |
IMPDH1 |
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) |
SNV |
Uncertain Significance
|
909095 |
rs757423102 |
GRCh37: 7:128040228-128040228 GRCh38: 7:128400174-128400174 |