1 |
ATR
|
NM_001184.3(ATR): c.2022A> G (p.Gly674=)
|
single nucleotide variant |
Pathogenic |
rs587776690
|
GRCh37 |
Chromosome 3, 142275281: 142275281 |
2 |
ATR
|
NM_001184.3(ATR): c.2022A> G (p.Gly674=)
|
single nucleotide variant |
Pathogenic |
rs587776690
|
GRCh38 |
Chromosome 3, 142556439: 142556439 |
3 |
ATR
|
NM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)
|
single nucleotide variant |
Pathogenic |
rs387907327
|
GRCh37 |
Chromosome 3, 142215958: 142215958 |
4 |
ATR
|
NM_001184.3(ATR): c.5635G> T (p.Asp1879Tyr)
|
single nucleotide variant |
Pathogenic |
rs387907327
|
GRCh38 |
Chromosome 3, 142497116: 142497116 |
5 |
ATR
|
NM_001184.3(ATR): c.3477G> T (p.Met1159Ile)
|
single nucleotide variant |
Pathogenic |
rs587777851
|
GRCh38 |
Chromosome 3, 142541008: 142541008 |
6 |
ATR
|
NM_001184.3(ATR): c.3477G> T (p.Met1159Ile)
|
single nucleotide variant |
Pathogenic |
rs587777851
|
GRCh37 |
Chromosome 3, 142259850: 142259850 |
7 |
ATR
|
NM_001184.3(ATR): c.6897+464C> G
|
single nucleotide variant |
Pathogenic |
rs587777852
|
GRCh38 |
Chromosome 3, 142465860: 142465860 |
8 |
ATR
|
NM_001184.3(ATR): c.6897+464C> G
|
single nucleotide variant |
Pathogenic |
rs587777852
|
GRCh37 |
Chromosome 3, 142184702: 142184702 |
9 |
ATR
|
NM_001184.3(ATR): c.1350-3T> C
|
single nucleotide variant |
Uncertain significance |
rs587783323
|
GRCh37 |
Chromosome 3, 142279299: 142279299 |
10 |
ATR
|
NM_001184.3(ATR): c.1350-3T> C
|
single nucleotide variant |
Uncertain significance |
rs587783323
|
GRCh38 |
Chromosome 3, 142560457: 142560457 |
11 |
ATR
|
NM_001184.3(ATR): c.2290A> G (p.Lys764Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs77208665
|
GRCh37 |
Chromosome 3, 142274770: 142274770 |
12 |
ATR
|
NM_001184.3(ATR): c.2290A> G (p.Lys764Glu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs77208665
|
GRCh38 |
Chromosome 3, 142555928: 142555928 |
13 |
ATR
|
NM_001184.3(ATR): c.2688G> A (p.Leu896=)
|
single nucleotide variant |
Uncertain significance |
rs117926957
|
GRCh37 |
Chromosome 3, 142272186: 142272186 |
14 |
ATR
|
NM_001184.3(ATR): c.2688G> A (p.Leu896=)
|
single nucleotide variant |
Uncertain significance |
rs117926957
|
GRCh38 |
Chromosome 3, 142553344: 142553344 |
15 |
ATR
|
NM_001184.3(ATR): c.3424A> G (p.Ser1142Gly)
|
single nucleotide variant |
Uncertain significance |
rs149008479
|
GRCh37 |
Chromosome 3, 142261533: 142261533 |
16 |
ATR
|
NM_001184.3(ATR): c.3424A> G (p.Ser1142Gly)
|
single nucleotide variant |
Uncertain significance |
rs149008479
|
GRCh38 |
Chromosome 3, 142542691: 142542691 |
17 |
ATR
|
NM_001184.3(ATR): c.3799G> A (p.Val1267Ile)
|
single nucleotide variant |
Uncertain significance |
rs377689383
|
GRCh37 |
Chromosome 3, 142254970: 142254970 |
18 |
ATR
|
NM_001184.3(ATR): c.3799G> A (p.Val1267Ile)
|
single nucleotide variant |
Uncertain significance |
rs377689383
|
GRCh38 |
Chromosome 3, 142536128: 142536128 |
19 |
ATR
|
NM_001184.3(ATR): c.4306A> G (p.Asn1436Asp)
|
single nucleotide variant |
Uncertain significance |
rs587783328
|
GRCh37 |
Chromosome 3, 142238587: 142238587 |
20 |
ATR
|
NM_001184.3(ATR): c.4306A> G (p.Asn1436Asp)
|
single nucleotide variant |
Uncertain significance |
rs587783328
|
GRCh38 |
Chromosome 3, 142519745: 142519745 |
21 |
ATR
|
NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp)
|
single nucleotide variant |
Uncertain significance |
rs148064542
|
GRCh37 |
Chromosome 3, 142238542: 142238542 |
22 |
ATR
|
NM_001184.3(ATR): c.4351C> T (p.Arg1451Trp)
|
single nucleotide variant |
Uncertain significance |
rs148064542
|
GRCh38 |
Chromosome 3, 142519700: 142519700 |
23 |
ATR
|
NM_001184.3(ATR): c.4641+15C> T
|
single nucleotide variant |
Uncertain significance |
rs200619976
|
GRCh37 |
Chromosome 3, 142232328: 142232328 |
24 |
ATR
|
NM_001184.3(ATR): c.4641+15C> T
|
single nucleotide variant |
Uncertain significance |
rs200619976
|
GRCh38 |
Chromosome 3, 142513486: 142513486 |
25 |
ATR
|
NM_001184.3(ATR): c.5732A> G (p.Asn1911Ser)
|
single nucleotide variant |
Uncertain significance |
rs587783334
|
GRCh37 |
Chromosome 3, 142215861: 142215861 |
26 |
ATR
|
NM_001184.3(ATR): c.5732A> G (p.Asn1911Ser)
|
single nucleotide variant |
Uncertain significance |
rs587783334
|
GRCh38 |
Chromosome 3, 142497019: 142497019 |
27 |
ATR
|
NM_001184.3(ATR): c.5739-14G> T
|
single nucleotide variant |
Uncertain significance |
rs587783335
|
GRCh37 |
Chromosome 3, 142215376: 142215376 |
28 |
ATR
|
NM_001184.3(ATR): c.5739-14G> T
|
single nucleotide variant |
Uncertain significance |
rs587783335
|
GRCh38 |
Chromosome 3, 142496534: 142496534 |
29 |
ATR
|
NM_001184.3(ATR): c.6961T> C (p.Phe2321Leu)
|
single nucleotide variant |
Uncertain significance |
rs587783338
|
GRCh37 |
Chromosome 3, 142184019: 142184019 |
30 |
ATR
|
NM_001184.3(ATR): c.6961T> C (p.Phe2321Leu)
|
single nucleotide variant |
Uncertain significance |
rs587783338
|
GRCh38 |
Chromosome 3, 142465177: 142465177 |
31 |
ATR
|
NM_001184.3(ATR): c.7041+4G> C
|
single nucleotide variant |
Uncertain significance |
rs113544835
|
GRCh37 |
Chromosome 3, 142183935: 142183935 |
32 |
ATR
|
NM_001184.3(ATR): c.7041+4G> C
|
single nucleotide variant |
Uncertain significance |
rs113544835
|
GRCh38 |
Chromosome 3, 142465093: 142465093 |
33 |
ATR
|
NM_001184.3(ATR): c.7725G> A (p.Ala2575=)
|
single nucleotide variant |
Uncertain significance |
rs587783340
|
GRCh37 |
Chromosome 3, 142172006: 142172006 |
34 |
ATR
|
NM_001184.3(ATR): c.7725G> A (p.Ala2575=)
|
single nucleotide variant |
Uncertain significance |
rs587783340
|
GRCh38 |
Chromosome 3, 142453164: 142453164 |
35 |
ATR
|
NM_001184.3(ATR): c.4641+1G> T
|
single nucleotide variant |
Pathogenic |
rs797045403
|
GRCh37 |
Chromosome 3, 142232342: 142232342 |
36 |
ATR
|
NM_001184.3(ATR): c.4641+1G> T
|
single nucleotide variant |
Pathogenic |
rs797045403
|
GRCh38 |
Chromosome 3, 142513500: 142513500 |
37 |
ATR
|
NM_001184.3(ATR): c.5196+1G> A
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 3, 142505138: 142505138 |
38 |
ATR
|
NM_001184.3(ATR): c.5196+1G> A
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 3, 142223980: 142223980 |
39 |
ATR
|
NM_001184.3(ATR): c.4995G> T (p.Lys1665Asn)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 3, 142507967: 142507967 |
40 |
ATR
|
NM_001184.3(ATR): c.4995G> T (p.Lys1665Asn)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 3, 142226809: 142226809 |
41 |
ATR
|
NM_001184.3(ATR): c.151+4A> G
|
single nucleotide variant |
Likely pathogenic |
rs1481733213
|
GRCh38 |
Chromosome 3, 142568059: 142568059 |
42 |
ATR
|
NM_001184.3(ATR): c.151+4A> G
|
single nucleotide variant |
Likely pathogenic |
rs1481733213
|
GRCh37 |
Chromosome 3, 142286901: 142286901 |