1 |
ITPA
|
NM_033453.4(ITPA): c.304C> T (p.Gln102Ter)
|
single nucleotide variant |
Pathogenic |
rs1227149616
|
20:3199171-3199171 |
20:3218525-3218525 |
2 |
ITPA
|
NC_000020.10: g.(?_3190178)_(3190283_?)del
|
deletion |
Pathogenic |
|
20:3190178-3190283 |
20:3209532-3209637 |
3 |
ITPA
|
NM_033453.4(ITPA): c.270del (p.Trp90fs)
|
deletion |
Pathogenic |
rs1381781375
|
20:3195933-3195933 |
20:3215287-3215287 |
4 |
ITPA
|
NM_033453.4(ITPA): c.70dup (p.Val24fs)
|
duplication |
Pathogenic |
|
20:3193818-3193818 |
20:3213172-3213172 |
5 |
ITPA
|
NM_033453.4(ITPA): c.124+1G> A
|
single nucleotide variant |
Likely pathogenic |
|
20:3193873-3193873 |
20:3213227-3213227 |
6 |
ITPA
|
NM_033453.4(ITPA): c.124+21A> C
|
single nucleotide variant |
drug response |
rs7270101
|
20:3193893-3193893 |
20:3213247-3213247 |
7 |
ITPA
|
NM_033453.4(ITPA): c.94C> A (p.Pro32Thr)
|
single nucleotide variant |
drug response |
rs1127354
|
20:3193842-3193842 |
20:3213196-3213196 |
8 |
ITPA
|
NM_033453.4(ITPA): c.452G> A (p.Trp151Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200086262
|
20:3202527-3202527 |
20:3221881-3221881 |
9 |
ITPA
|
NM_033453.4(ITPA): c.128C> T (p.Pro43Leu)
|
single nucleotide variant |
Uncertain significance |
|
20:3193968-3193968 |
20:3213322-3213322 |
10 |
ITPA
|
NM_033453.4(ITPA): c.403C> T (p.Arg135Trp)
|
single nucleotide variant |
Uncertain significance |
|
20:3199270-3199270 |
20:3218624-3218624 |
11 |
ITPA
|
NM_033453.4(ITPA): c.170G> A (p.Cys57Tyr)
|
single nucleotide variant |
Uncertain significance |
|
20:3194010-3194010 |
20:3213364-3213364 |
12 |
ITPA
|
NM_033453.4(ITPA): c.184C> T (p.Arg62Cys)
|
single nucleotide variant |
Uncertain significance |
|
20:3194024-3194024 |
20:3213378-3213378 |
13 |
ITPA
|
NM_033453.4(ITPA): c.383C> T (p.Pro128Leu)
|
single nucleotide variant |
Uncertain significance |
rs780479868
|
20:3199250-3199250 |
20:3218604-3218604 |
14 |
ITPA
|
NM_033453.4(ITPA): c.411+6T> C
|
single nucleotide variant |
Uncertain significance |
|
20:3199284-3199284 |
20:3218638-3218638 |
15 |
ITPA
|
NM_033453.4(ITPA): c.316G> A (p.Gly106Arg)
|
single nucleotide variant |
Uncertain significance |
rs202194282
|
20:3199183-3199183 |
20:3218537-3218537 |
16 |
ITPA
|
NM_033453.4(ITPA): c.397A> G (p.Arg133Gly)
|
single nucleotide variant |
Uncertain significance |
|
20:3199264-3199264 |
20:3218618-3218618 |
17 |
ITPA
|
NM_033453.4(ITPA): c.508G> A (p.Ala170Thr)
|
single nucleotide variant |
Uncertain significance |
|
20:3204031-3204031 |
20:3223385-3223385 |
18 |
ITPA
|
NM_033453.4(ITPA): c.57_58delinsAA (p.Leu20Met)
|
indel |
Uncertain significance |
|
20:3190254-3190255 |
20:3209608-3209609 |
19 |
ITPA
|
NM_033453.4(ITPA): c.259T> G (p.Tyr87Asp)
|
single nucleotide variant |
Uncertain significance |
|
20:3194700-3194700 |
20:3214054-3214054 |
20 |
ITPA
|
NM_033453.4(ITPA): c.294A> C (p.Glu98Asp)
|
single nucleotide variant |
Uncertain significance |
|
20:3195957-3195957 |
20:3215311-3215311 |
21 |
ITPA
|
NM_033453.4(ITPA): c.509C> T (p.Ala170Val)
|
single nucleotide variant |
Uncertain significance |
|
20:3204032-3204032 |
20:3223386-3223386 |
22 |
ITPA
|
NM_033453.4(ITPA): c.523G> C (p.Val175Leu)
|
single nucleotide variant |
Uncertain significance |
|
20:3204046-3204046 |
20:3223400-3223400 |
23 |
ITPA
|
NC_000020.10: g.(?_3190178)_(3604448_?)dup
|
duplication |
Uncertain significance |
|
20:3190178-3604448 |
:0-0 |
24 |
ITPA
|
NM_033453.4(ITPA): c.411+5G> A
|
single nucleotide variant |
Uncertain significance |
|
20:3199283-3199283 |
20:3218637-3218637 |
25 |
ITPA
|
NM_033453.4(ITPA): c.411+5G> C
|
single nucleotide variant |
Uncertain significance |
|
20:3199283-3199283 |
20:3218637-3218637 |
26 |
ITPA
|
NM_033453.4(ITPA): c.363C> A (p.Ser121Arg)
|
single nucleotide variant |
Uncertain significance |
rs765934653
|
20:3199230-3199230 |
20:3218584-3218584 |
27 |
ITPA
|
NM_033453.4(ITPA): c.101C> A (p.Thr34Asn)
|
single nucleotide variant |
Uncertain significance |
rs773947334
|
20:3193849-3193849 |
20:3213203-3213203 |
28 |
ITPA
|
NM_033453.4(ITPA): c.520G> A (p.Ala174Thr)
|
single nucleotide variant |
Uncertain significance |
rs747784107
|
20:3204043-3204043 |
20:3223397-3223397 |
29 |
ITPA
|
NM_033453.4(ITPA): c.415C> T (p.Arg139Trp)
|
single nucleotide variant |
Uncertain significance |
rs1329748108
|
20:3202490-3202490 |
20:3221844-3221844 |
30 |
ITPA
|
NM_033453.4(ITPA): c.66+5C> T
|
single nucleotide variant |
Uncertain significance |
rs367746086
|
20:3190268-3190268 |
20:3209622-3209622 |
31 |
ITPA
|
NM_033453.4(ITPA): c.117A> C (p.Lys39Asn)
|
single nucleotide variant |
Uncertain significance |
rs538432614
|
20:3193865-3193865 |
20:3213219-3213219 |
32 |
ITPA
|
NM_033453.4(ITPA): c.165G> C (p.Gln55His)
|
single nucleotide variant |
Uncertain significance |
rs1555773628
|
20:3194005-3194005 |
20:3213359-3213359 |
33 |
ITPA
|
NM_033453.4(ITPA): c.306G> C (p.Gln102His)
|
single nucleotide variant |
Uncertain significance |
rs939527021
|
20:3199173-3199173 |
20:3218527-3218527 |
34 |
ITPA
|
NM_033453.4(ITPA): c.388C> T (p.Arg130Cys)
|
single nucleotide variant |
Uncertain significance |
rs578227905
|
20:3199255-3199255 |
20:3218609-3218609 |
35 |
ITPA
|
NM_033453.4(ITPA): c.190G> T (p.Val64Leu)
|
single nucleotide variant |
Uncertain significance |
rs760868571
|
20:3194631-3194631 |
20:3213985-3213985 |
36 |
ITPA
|
NM_033453.4(ITPA): c.316G> C (p.Gly106Arg)
|
single nucleotide variant |
Uncertain significance |
rs202194282
|
20:3199183-3199183 |
20:3218537-3218537 |
37 |
ITPA
|
NM_033453.4(ITPA): c.488C> T (p.Thr163Met)
|
single nucleotide variant |
Uncertain significance |
rs758706191
|
20:3202563-3202563 |
20:3221917-3221917 |
38 |
ITPA
|
NM_033453.4(ITPA): c.521C> T (p.Ala174Val)
|
single nucleotide variant |
Uncertain significance |
rs148875609
|
20:3204044-3204044 |
20:3223398-3223398 |
39 |
ITPA
|
NM_033453.4(ITPA): c.567T> C (p.Phe189=)
|
single nucleotide variant |
Likely benign |
rs183325660
|
20:3204090-3204090 |
20:3223444-3223444 |
40 |
ITPA
|
NM_033453.4(ITPA): c.124C> T (p.Leu42=)
|
single nucleotide variant |
Likely benign |
rs142574480
|
20:3193872-3193872 |
20:3213226-3213226 |
41 |
ITPA
|
NM_033453.4(ITPA): c.96A> G (p.Pro32=)
|
single nucleotide variant |
Likely benign |
rs144682597
|
20:3193844-3193844 |
20:3213198-3213198 |
42 |
ITPA
|
NM_033453.4(ITPA): c.129G> T (p.Pro43=)
|
single nucleotide variant |
Likely benign |
rs146112146
|
20:3193969-3193969 |
20:3213323-3213323 |
43 |
ITPA
|
NM_033453.4(ITPA): c.366C> T (p.Thr122=)
|
single nucleotide variant |
Likely benign |
rs1358256041
|
20:3199233-3199233 |
20:3218587-3218587 |
44 |
ITPA
|
NM_033453.4(ITPA): c.126G> A (p.Leu42=)
|
single nucleotide variant |
Likely benign |
rs1555773611
|
20:3193966-3193966 |
20:3213320-3213320 |
45 |
ITPA
|
NM_033453.3(ITPA): c.67-12_67-8delCTCTT
|
deletion |
Likely benign |
rs771313305
|
20:3193803-3193807 |
20:3213157-3213161 |
46 |
ITPA
|
NM_033453.4(ITPA): c.159C> T (p.Ser53=)
|
single nucleotide variant |
Likely benign |
rs939381685
|
20:3193999-3193999 |
20:3213353-3213353 |
47 |
ITPA
|
NM_033453.4(ITPA): c.510G> A (p.Ala170=)
|
single nucleotide variant |
Likely benign |
rs374703513
|
20:3204033-3204033 |
20:3223387-3223387 |
48 |
ITPA
|
NM_033453.4(ITPA): c.278A> G (p.Glu93Gly)
|
single nucleotide variant |
Benign/Likely benign |
rs34982958
|
20:3195941-3195941 |
20:3215295-3215295 |
49 |
ITPA
|
NM_033453.4(ITPA): c.233A> G (p.Asn78Ser)
|
single nucleotide variant |
Benign |
rs150904363
|
20:3194674-3194674 |
20:3214028-3214028 |
50 |
ITPA
|
NM_033453.4(ITPA): c.291T> G (p.Pro97=)
|
single nucleotide variant |
Benign |
rs145329644
|
20:3195954-3195954 |
20:3215308-3215308 |