1 |
ALK |
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) |
SNV |
Pathogenic |
65670 |
rs281864719 |
2:29443697-29443697 |
2:29220831-29220831 |
2 |
ALK |
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) |
SNV |
Pathogenic |
65671 |
rs281864720 |
2:29436860-29436860 |
2:29213994-29213994 |
3 |
ALK |
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) |
SNV |
Pathogenic |
217858 |
rs863225285 |
2:29432655-29432655 |
2:29209789-29209789 |
4 |
ALK |
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu) |
SNV |
Pathogenic |
217857 |
rs863225284 |
2:29436858-29436858 |
2:29213992-29213992 |
5 |
ALK |
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) |
SNV |
Pathogenic |
217856 |
rs863225283 |
2:29436859-29436859 |
2:29213993-29213993 |
6 |
ALK |
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) |
SNV |
Pathogenic |
217850 |
rs281864719 |
2:29443697-29443697 |
2:29220831-29220831 |
7 |
ALK |
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) |
SNV |
Pathogenic/Likely pathogenic |
217852 |
rs863225281 |
2:29443695-29443695 |
2:29220829-29220829 |
8 |
ALK |
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) |
SNV |
Pathogenic/Likely pathogenic |
217851 |
rs863225281 |
2:29443695-29443695 |
2:29220829-29220829 |
9 |
ALK |
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) |
SNV |
Pathogenic/Likely pathogenic |
217849 |
rs281864719 |
2:29443697-29443697 |
2:29220831-29220831 |
10 |
ALK |
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) |
SNV |
Pathogenic/Likely pathogenic |
217855 |
rs281864720 |
2:29436860-29436860 |
2:29213994-29213994 |
11 |
ALK |
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) |
SNV |
Pathogenic/Likely pathogenic |
21867 |
rs113994092 |
2:29432739-29432739 |
2:29209873-29209873 |
12 |
ALK |
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) |
SNV |
Pathogenic/Likely pathogenic,risk factor |
18083 |
rs113994087 |
2:29432664-29432664 |
2:29209798-29209798 |
13 |
ALK |
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) |
SNV |
Pathogenic/Likely pathogenic,risk factor |
18084 |
rs113994088 |
2:29445450-29445450 |
2:29222584-29222584 |
14 |
ALK |
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) |
SNV |
Pathogenic/Likely pathogenic,risk factor |
18085 |
rs113994089 |
2:29443642-29443642 |
2:29220776-29220776 |
15 |
ALK |
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val) |
SNV |
Likely pathogenic |
217854 |
rs863225282 |
2:29436875-29436875 |
2:29214009-29214009 |
16 |
ALK |
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) |
SNV |
Conflicting interpretations of pathogenicity |
133478 |
rs201768549 |
2:29416767-29416767 |
2:29193901-29193901 |
17 |
ALK |
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) |
SNV |
Conflicting interpretations of pathogenicity |
133464 |
rs61754865 |
2:29455225-29455225 |
2:29232359-29232359 |
18 |
ALK |
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) |
SNV |
Conflicting interpretations of pathogenicity |
239844 |
rs76150405 |
2:29416168-29416168 |
2:29193302-29193302 |
19 |
ALK |
NM_004304.5(ALK):c.4608G>A (p.Glu1536=) |
SNV |
Conflicting interpretations of pathogenicity |
239840 |
rs147241767 |
2:29416345-29416345 |
2:29193479-29193479 |
20 |
ALK |
NM_004304.5(ALK):c.4275G>A (p.Leu1425=) |
SNV |
Conflicting interpretations of pathogenicity |
239835 |
rs749418931 |
2:29416678-29416678 |
2:29193812-29193812 |
21 |
ALK |
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) |
SNV |
Conflicting interpretations of pathogenicity |
18086 |
rs113994091 |
2:29445273-29445273 |
2:29222407-29222407 |
22 |
ALK |
NM_004304.5(ALK):c.3939-5C>T |
SNV |
Conflicting interpretations of pathogenicity |
706470 |
|
2:29420547-29420547 |
2:29197681-29197681 |
23 |
ALK |
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) |
SNV |
Conflicting interpretations of pathogenicity |
239802 |
rs147858673 |
2:29474026-29474026 |
2:29251160-29251160 |
24 |
ALK |
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) |
SNV |
Conflicting interpretations of pathogenicity |
239842 |
rs74774946 |
2:30143057-30143057 |
2:29920191-29920191 |
25 |
ALK |
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) |
SNV |
Conflicting interpretations of pathogenicity |
239819 |
rs576431612 |
2:30143216-30143216 |
2:29920350-29920350 |
26 |
ALK |
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser) |
SNV |
Conflicting interpretations of pathogenicity |
335689 |
rs372612147 |
2:29416578-29416578 |
2:29193712-29193712 |
27 |
ALK |
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) |
SNV |
Conflicting interpretations of pathogenicity |
335691 |
rs74716434 |
2:29430136-29430136 |
2:29207270-29207270 |
28 |
ALK |
NM_004304.5(ALK):c.1550A>G (p.His517Arg) |
SNV |
Conflicting interpretations of pathogenicity |
335707 |
rs367674546 |
2:29541267-29541267 |
2:29318401-29318401 |
29 |
ALK |
NM_004304.5(ALK):c.4344C>T (p.Ser1448=) |
SNV |
Conflicting interpretations of pathogenicity |
335690 |
rs886055929 |
2:29416609-29416609 |
2:29193743-29193743 |
30 |
ALK |
NM_004304.5(ALK):c.3173-11C>T |
SNV |
Conflicting interpretations of pathogenicity |
335696 |
rs79339096 |
2:29446405-29446405 |
2:29223539-29223539 |
31 |
ALK |
NM_004304.5(ALK):c.386G>T (p.Gly129Val) |
SNV |
Conflicting interpretations of pathogenicity |
335714 |
rs760041708 |
2:30143140-30143140 |
2:29920274-29920274 |
32 |
ALK |
NM_004304.5(ALK):c.3939-9C>T |
SNV |
Conflicting interpretations of pathogenicity |
538310 |
rs749848775 |
2:29420551-29420551 |
2:29197685-29197685 |
33 |
ALK |
NM_004304.5(ALK):c.1044C>T (p.Ala348=) |
SNV |
Conflicting interpretations of pathogenicity |
538283 |
rs200293454 |
2:29754891-29754891 |
2:29532025-29532025 |
34 |
ALK |
NM_004304.5(ALK):c.4809T>C (p.His1603=) |
SNV |
Conflicting interpretations of pathogenicity |
701610 |
|
2:29416144-29416144 |
2:29193278-29193278 |
35 |
ALK |
NM_004304.5(ALK):c.3672G>A (p.Leu1224=) |
SNV |
Conflicting interpretations of pathogenicity |
824056 |
|
2:29436921-29436921 |
2:29214055-29214055 |
36 |
ALK |
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) |
SNV |
Conflicting interpretations of pathogenicity |
404336 |
rs373037272 |
2:29416158-29416158 |
2:29193292-29193292 |
37 |
ALK |
NM_004304.5(ALK):c.615C>G (p.Ser205=) |
SNV |
Conflicting interpretations of pathogenicity |
412941 |
rs567498111 |
2:30142911-30142911 |
2:29920045-29920045 |
38 |
ALK |
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter) |
SNV |
Conflicting interpretations of pathogenicity |
404369 |
rs145028315 |
2:29436851-29436851 |
2:29213985-29213985 |
39 |
ALK |
NM_004304.5(ALK):c.4425C>T (p.His1475=) |
SNV |
Conflicting interpretations of pathogenicity |
412904 |
rs139039449 |
2:29416528-29416528 |
2:29193662-29193662 |
40 |
ALK |
NM_004304.5(ALK):c.872G>A (p.Arg291His) |
SNV |
Conflicting interpretations of pathogenicity |
404374 |
rs572340007 |
2:29917796-29917796 |
2:29694930-29694930 |
41 |
ALK |
NM_004304.5(ALK):c.2073C>T (p.Ser691=) |
SNV |
Conflicting interpretations of pathogenicity |
470778 |
rs370435082 |
2:29474102-29474102 |
2:29251236-29251236 |
42 |
ALK |
NM_004304.5(ALK):c.1283-5T>C |
SNV |
Conflicting interpretations of pathogenicity |
470745 |
rs377214413 |
2:29551352-29551352 |
2:29328486-29328486 |
43 |
ALK |
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) |
SNV |
Conflicting interpretations of pathogenicity |
470739 |
rs779282861 |
2:29606697-29606697 |
2:29383831-29383831 |
44 |
ALK |
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) |
SNV |
Conflicting interpretations of pathogenicity |
470824 |
rs370170353 |
2:29446276-29446276 |
2:29223410-29223410 |
45 |
ALK |
NM_004304.5(ALK):c.2304T>C (p.Asp768=) |
SNV |
Conflicting interpretations of pathogenicity |
470787 |
rs758649392 |
2:29462597-29462597 |
2:29239731-29239731 |
46 |
ALK |
NM_004304.5(ALK):c.3645G>A (p.Pro1215=) |
SNV |
Conflicting interpretations of pathogenicity |
485074 |
rs775768862 |
2:29443572-29443572 |
2:29220706-29220706 |
47 |
ALK |
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) |
SNV |
Conflicting interpretations of pathogenicity |
485075 |
rs199987354 |
2:29446229-29446229 |
2:29223363-29223363 |
48 |
ALK |
NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln) |
SNV |
Uncertain significance |
485084 |
rs1215186876 |
2:29419721-29419721 |
2:29196855-29196855 |
49 |
ALK |
NM_004304.5(ALK):c.3641G>A (p.Arg1214His) |
SNV |
Uncertain significance |
485079 |
rs750194005 |
2:29443576-29443576 |
2:29220710-29220710 |
50 |
ALK |
NM_004304.5(ALK):c.286G>A (p.Ala96Thr) |
SNV |
Uncertain significance |
470810 |
rs1057065255 |
2:30143240-30143240 |
2:29920374-29920374 |