1 |
ATL1 |
NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys) |
SNV |
Pathogenic
|
30579 |
rs1555365597 |
GRCh37: 14:51089912-51089912 GRCh38: 14:50623194-50623194 |
2 |
ATL1 |
NM_015915.5(ATL1):c.976del (p.Val326fs) |
DEL |
Pathogenic
|
637513 |
rs1595619553 |
GRCh37: 14:51087429-51087429 GRCh38: 14:50620711-50620711 |
3 |
ATL1 |
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) |
SNV |
Pathogenic
|
4346 |
rs119476046 |
GRCh37: 14:51080061-51080061 GRCh38: 14:50613343-50613343 |
4 |
ATL1 |
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) |
SNV |
Pathogenic
|
30580 |
rs200314808 |
GRCh37: 14:51054710-51054710 GRCh38: 14:50587992-50587992 |
5 |
ATL1 |
NM_015915.5(ATL1):c.1111dup (p.Met371fs) |
DUP |
Likely Pathogenic
|
638382 |
rs1566733927 |
GRCh37: 14:51089951-51089952 GRCh38: 14:50623233-50623234 |
6 |
ATL1 |
NM_015915.5(ATL1):c.169C>T (p.Leu57Phe) |
SNV |
Uncertain Significance
|
930242 |
rs2039118655 |
GRCh37: 14:51054683-51054683 GRCh38: 14:50587965-50587965 |
7 |
ATL1 |
NM_015915.5(ATL1):c.833C>T (p.Thr278Ile) |
SNV |
Uncertain Significance
|
931613 |
rs2039395853 |
GRCh37: 14:51081200-51081200 GRCh38: 14:50614482-50614482 |
8 |
ATL1 |
NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) |
SNV |
Uncertain Significance
|
976249 |
rs2039590258 |
GRCh37: 14:51099014-51099014 GRCh38: 14:50632296-50632296 |
9 |
ATL1 |
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) |
SNV |
Uncertain Significance
|
444328 |
rs768367744 |
GRCh37: 14:51080034-51080034 GRCh38: 14:50613316-50613316 |
10 |
ATL1 |
NM_015915.5(ATL1):c.922G>A (p.Glu308Lys) |
SNV |
Uncertain Significance
|
425042 |
rs773401705 |
GRCh37: 14:51087376-51087376 GRCh38: 14:50620658-50620658 |
11 |
ATL1 |
NM_015915.5(ATL1):c.84A>G (p.Pro28=) |
SNV |
Benign
Benign
|
21534 |
rs35014209 |
GRCh37: 14:51054598-51054598 GRCh38: 14:50587880-50587880 |
12 |
ATL1 |
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) |
SNV |
Benign
|
241074 |
rs148548325 |
GRCh37: 14:51094859-51094859 GRCh38: 14:50628141-50628141 |
13 |
ATL1, MAP4K5 |
NM_015915.5(ATL1):c.30T>C (p.Ser10=) |
SNV |
Benign
|
471249 |
rs146613929 |
GRCh37: 14:51027013-51027013 GRCh38: 14:50560295-50560295 |
14 |
ATL1 |
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) |
SNV |
Benign
|
538585 |
rs145204580 |
GRCh37: 14:51057682-51057682 GRCh38: 14:50590964-50590964 |
15 |
ATL1 |
NM_015915.5(ATL1):c.991-3dup |
DUP |
Benign
|
422120 |
rs753642042 |
GRCh37: 14:51088549-51088550 GRCh38: 14:50621831-50621832 |
16 |
ATL1 |
NM_015915.5(ATL1):c.991-6T>G |
SNV |
Benign
|
313303 |
rs192428744 |
GRCh37: 14:51088555-51088555 GRCh38: 14:50621837-50621837 |
17 |
ATL1 |
NM_015915.5(ATL1):c.705C>T (p.Phe235=) |
SNV |
Benign
|
313300 |
rs35044504 |
GRCh37: 14:51080051-51080051 GRCh38: 14:50613333-50613333 |
18 |
ATL1 |
NM_015915.5(ATL1):c.693T>C (p.Gly231=) |
SNV |
Benign
|
313299 |
rs139720661 |
GRCh37: 14:51080039-51080039 GRCh38: 14:50613321-50613321 |
19 |
ATL1 |
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) |
SNV |
Benign
|
313298 |
rs146975855 |
GRCh37: 14:51080015-51080015 GRCh38: 14:50613297-50613297 |
20 |
ATL1 |
NM_015915.5(ATL1):c.621G>A (p.Lys207=) |
SNV |
Benign
|
21533 |
rs35629585 |
GRCh37: 14:51062341-51062341 GRCh38: 14:50595623-50595623 |
21 |
ATL1 |
NM_015915.5(ATL1):c.630+105G>A |
SNV |
Benign
|
670499 |
rs10131107 |
GRCh37: 14:51062455-51062455 GRCh38: 14:50595737-50595737 |
22 |
ATL1 |
NM_015915.5(ATL1):c.1119+136_1119+137insAT |
INSERT |
Benign
|
678071 |
rs10626021 |
GRCh37: 14:51090102-51090103 GRCh38: 14:50623384-50623385 |
23 |
ATL1 |
NM_015915.5(ATL1):c.351G>A (p.Glu117=) |
SNV |
Benign
|
21530 |
rs1060197 |
GRCh37: 14:51057727-51057727 GRCh38: 14:50591009-50591009 |
24 |
ATL1 |
NM_015915.5(ATL1):c.408T>C (p.Asp136=) |
SNV |
Benign
|
313293 |
rs76375909 |
GRCh37: 14:51057784-51057784 GRCh38: 14:50591066-50591066 |
25 |
ATL1 |
NM_015915.5(ATL1):c.417+3A>G |
SNV |
Benign
|
313294 |
rs200310890 |
GRCh37: 14:51057796-51057796 GRCh38: 14:50591078-50591078 |
26 |
ATL1 |
NM_015915.5(ATL1):c.570C>G (p.Leu190=) |
SNV |
Benign
|
538584 |
rs202173614 |
GRCh37: 14:51060611-51060611 GRCh38: 14:50593893-50593893 |
27 |
ATL1 |
NM_015915.5(ATL1):c.*305T>C |
SNV |
Benign
|
313310 |
rs2291674 |
GRCh37: 14:51099362-51099362 GRCh38: 14:50632644-50632644 |
28 |
ATL1 |
NM_015915.5(ATL1):c.1552-24_1552-20del |
DEL |
Benign
|
1278312 |
|
GRCh37: 14:51096685-51096689 GRCh38: 14:50629967-50629971 |
29 |
ATL1 |
NM_015915.5(ATL1):c.1552-68_1552-67insATA |
INSERT |
Benign
|
1293178 |
|
GRCh37: 14:51096644-51096645 GRCh38: 14:50629926-50629927 |
30 |
ATL1 |
NM_015915.5(ATL1):c.630+7G>A |
SNV |
Benign
Benign
|
136428 |
rs3759588 |
GRCh37: 14:51062357-51062357 GRCh38: 14:50595639-50595639 |
31 |
ATL1 |
NM_015915.5(ATL1):c.418-19G>T |
SNV |
Benign
|
1174932 |
|
GRCh37: 14:51058234-51058234 GRCh38: 14:50591516-50591516 |
32 |
ATL1 |
NM_015915.5(ATL1):c.35-14G>A |
SNV |
Benign
|
516491 |
rs115722924 |
GRCh37: 14:51054535-51054535 GRCh38: 14:50587817-50587817 |
33 |
ATL1 |
NM_015915.5(ATL1):c.1635A>G (p.Pro545=) |
SNV |
Benign
|
883385 |
rs191729308 |
GRCh37: 14:51099015-51099015 GRCh38: 14:50632297-50632297 |
34 |
ATL1 |
NM_015915.5(ATL1):c.921C>T (p.Pro307=) |
SNV |
Benign
|
994783 |
rs535790981 |
GRCh37: 14:51087375-51087375 GRCh38: 14:50620657-50620657 |