1 |
GATM |
NM_001482.3(GATM):c.446G>A (p.Trp149Ter) |
SNV |
Pathogenic |
7302 |
rs80338737 |
15:45661562-45661562 |
15:45369364-45369364 |
2 |
GATM |
NM_001482.3(GATM):c.484+1G>T |
SNV |
Pathogenic |
21299 |
rs80338738 |
15:45661523-45661523 |
15:45369325-45369325 |
3 |
GATM |
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) |
SNV |
Pathogenic |
55919 |
rs397514708 |
15:45660438-45660438 |
15:45368240-45368240 |
4 |
GATM |
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser) |
SNV |
Pathogenic |
55921 |
rs397514709 |
15:45660335-45660335 |
15:45368137-45368137 |
5 |
GATM |
NM_001482.3(GATM):c.216G>A (p.Trp72Ter) |
SNV |
Pathogenic |
572733 |
rs1566842679 |
15:45668871-45668871 |
15:45376673-45376673 |
6 |
GATM |
NM_001482.3(GATM):c.959del (p.Pro320fs) |
Deletion |
Pathogenic |
955458 |
|
15:45658263-45658263 |
15:45366065-45366065 |
7 |
GATM |
NM_001482.3(GATM):c.1111dup (p.Met371fs) |
Duplication |
Pathogenic |
55918 |
rs397515542 |
15:45656145-45656146 |
15:45363947-45363948 |
8 |
GATM |
NM_001482.3(GATM):c.407C>T (p.Thr136Met) |
SNV |
Conflicting interpretations of pathogenicity |
205613 |
rs148564534 |
15:45661601-45661601 |
15:45369403-45369403 |
9 |
GATM |
NM_001482.3(GATM):c.1041C>T (p.Asp347=) |
SNV |
Conflicting interpretations of pathogenicity |
137450 |
rs139599307 |
15:45656996-45656996 |
15:45364798-45364798 |
10 |
GATM |
NM_001482.3(GATM):c.511A>T (p.Ile171Phe) |
SNV |
Uncertain significance |
469139 |
rs747203599 |
15:45660432-45660432 |
15:45368234-45368234 |
11 |
GATM |
NM_001321015.2(GATM):c.-319+1757C>T |
SNV |
Uncertain significance |
316216 |
rs745765661 |
15:45670925-45670925 |
15:45378727-45378727 |
12 |
GATM |
NM_001482.3(GATM):c.-72C>T |
SNV |
Uncertain significance |
316213 |
rs886051203 |
15:45670723-45670723 |
15:45378525-45378525 |
13 |
GATM |
NM_001482.3(GATM):c.654G>A (p.Met218Ile) |
SNV |
Uncertain significance |
469141 |
rs1555384217 |
15:45660289-45660289 |
15:45368091-45368091 |
14 |
GATM |
NM_001482.3(GATM):c.581G>A (p.Arg194Gln) |
SNV |
Uncertain significance |
536983 |
rs774017569 |
15:45660362-45660362 |
15:45368164-45368164 |
15 |
GATM |
NM_001482.3(GATM):c.845G>A (p.Arg282His) |
SNV |
Uncertain significance |
225918 |
rs371447931 |
15:45658377-45658377 |
15:45366179-45366179 |
16 |
GATM |
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) |
SNV |
Uncertain significance |
536984 |
rs764877849 |
15:45658672-45658672 |
15:45366474-45366474 |
17 |
GATM |
NM_001482.3(GATM):c.1106G>A (p.Arg369His) |
SNV |
Uncertain significance |
498635 |
rs747557239 |
15:45656151-45656151 |
15:45363953-45363953 |
18 |
GATM |
NM_001321015.2(GATM):c.-318-1805T>C |
SNV |
Uncertain significance |
316214 |
rs886051204 |
15:45670822-45670822 |
15:45378624-45378624 |
19 |
GATM |
NM_001482.3(GATM):c.69+13C>T |
SNV |
Uncertain significance |
137454 |
rs573273215 |
15:45670570-45670570 |
15:45378372-45378372 |
20 |
GATM |
NM_001482.3(GATM):c.*27C>G |
SNV |
Uncertain significance |
316209 |
rs200143728 |
15:45654280-45654280 |
15:45362082-45362082 |
21 |
GATM |
NM_001482.3(GATM):c.222C>T (p.Pro74=) |
SNV |
Uncertain significance |
316212 |
rs774485349 |
15:45668865-45668865 |
15:45376667-45376667 |
22 |
GATM |
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg) |
SNV |
Uncertain significance |
316211 |
rs886051202 |
15:45656098-45656098 |
15:45363900-45363900 |
23 |
GATM |
NM_001482.3(GATM):c.*699A>C |
SNV |
Uncertain significance |
316205 |
rs750817737 |
15:45653608-45653608 |
15:45361410-45361410 |
24 |
GATM |
NM_001482.3(GATM):c.1159+14A>G |
SNV |
Uncertain significance |
316210 |
rs368974196 |
15:45656084-45656084 |
15:45363886-45363886 |
25 |
GATM |
NM_001482.3(GATM):c.*104A>G |
SNV |
Uncertain significance |
316208 |
rs886051201 |
15:45654203-45654203 |
15:45362005-45362005 |
26 |
GATM |
NM_001482.3(GATM):c.724G>A (p.Gly242Arg) |
SNV |
Uncertain significance |
575063 |
rs1236954285 |
15:45658658-45658658 |
15:45366460-45366460 |
27 |
GATM |
NM_001482.3(GATM):c.37G>A (p.Gly13Ser) |
SNV |
Uncertain significance |
578428 |
rs1566843333 |
15:45670615-45670615 |
15:45378417-45378417 |
28 |
SLC28A2-AS1 |
NC_000015.9:g.(?_45152372)_(45670671_?)dup |
Duplication |
Uncertain significance |
584325 |
|
15:45152372-45670671 |
15:44860174-45378473 |
29 |
GATM |
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) |
SNV |
Uncertain significance |
625953 |
rs768171759 |
15:45654348-45654348 |
15:45362150-45362150 |
30 |
GATM |
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) |
SNV |
Uncertain significance |
205616 |
rs202225656 |
15:45658690-45658690 |
15:45366492-45366492 |
31 |
GATM |
NM_001482.3(GATM):c.591G>T (p.Arg197Ser) |
SNV |
Uncertain significance |
646168 |
rs1167013064 |
15:45660352-45660352 |
15:45368154-45368154 |
32 |
GATM |
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) |
SNV |
Uncertain significance |
205608 |
rs747608698 |
15:45657007-45657007 |
15:45364809-45364809 |
33 |
GATM |
NM_001482.3(GATM):c.395A>G (p.Asn132Ser) |
SNV |
Uncertain significance |
648568 |
rs759658712 |
15:45661613-45661613 |
15:45369415-45369415 |
34 |
GATM |
NM_001482.3(GATM):c.844C>T (p.Arg282Cys) |
SNV |
Uncertain significance |
198134 |
rs766583032 |
15:45658378-45658378 |
15:45366180-45366180 |
35 |
GATM |
NM_001482.3(GATM):c.1085T>C (p.Val362Ala) |
SNV |
Uncertain significance |
651345 |
rs1479969521 |
15:45656172-45656172 |
15:45363974-45363974 |
36 |
GATM |
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) |
SNV |
Uncertain significance |
651610 |
rs748600834 |
15:45660340-45660340 |
15:45368142-45368142 |
37 |
GATM |
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) |
SNV |
Uncertain significance |
225921 |
rs374592247 |
15:45654335-45654335 |
15:45362137-45362137 |
38 |
GATM |
NM_001482.3(GATM):c.1162A>G (p.Ile388Val) |
SNV |
Uncertain significance |
654184 |
rs1170650328 |
15:45654417-45654417 |
15:45362219-45362219 |
39 |
GATM |
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) |
SNV |
Uncertain significance |
225915 |
rs377578020 |
15:45660378-45660378 |
15:45368180-45368180 |
40 |
GATM |
NM_001482.3(GATM):c.7C>G (p.Arg3Gly) |
SNV |
Uncertain significance |
205621 |
rs796052538 |
15:45670645-45670645 |
15:45378447-45378447 |
41 |
GATM |
NM_001482.3(GATM):c.1043-3T>C |
SNV |
Uncertain significance |
587965 |
rs772985563 |
15:45656217-45656217 |
15:45364019-45364019 |
42 |
GATM |
NM_001482.3(GATM):c.245G>A (p.Arg82Lys) |
SNV |
Uncertain significance |
663209 |
rs1595485790 |
15:45668842-45668842 |
15:45376644-45376644 |
43 |
GATM |
NM_001482.3(GATM):c.484+3A>G |
SNV |
Uncertain significance |
665825 |
rs1595483673 |
15:45661521-45661521 |
15:45369323-45369323 |
44 |
GATM |
NC_000015.10:g.(?_45362089)_(45378473_?)dup |
Duplication |
Uncertain significance |
831368 |
|
15:45654287-45670671 |
|
45 |
GATM |
NM_001482.3(GATM):c.644A>G (p.Lys215Arg) |
SNV |
Uncertain significance |
836244 |
|
15:45660299-45660299 |
15:45368101-45368101 |
46 |
GATM |
NM_001482.3(GATM):c.913_918del (p.Asp305_Ala306del) |
Deletion |
Uncertain significance |
837593 |
|
15:45658304-45658309 |
15:45366106-45366111 |
47 |
GATM |
NM_001482.3(GATM):c.217G>A (p.Asp73Asn) |
SNV |
Uncertain significance |
838032 |
|
15:45668870-45668870 |
15:45376672-45376672 |
48 |
GATM |
NM_001482.3(GATM):c.483G>A (p.Thr161=) |
SNV |
Uncertain significance |
839361 |
|
15:45661525-45661525 |
15:45369327-45369327 |
49 |
GATM |
NM_001482.3(GATM):c.350A>G (p.Lys117Arg) |
SNV |
Uncertain significance |
843867 |
|
15:45661658-45661658 |
15:45369460-45369460 |
50 |
GATM |
NM_001482.3(GATM):c.946G>A (p.Val316Met) |
SNV |
Uncertain significance |
844029 |
|
15:45658276-45658276 |
15:45366078-45366078 |