1 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2769del (p.Phe923fs) |
Deletion |
Pathogenic |
217753 |
rs863225242 |
5:140908748-140908748 |
5:141529181-141529181 |
2 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter) |
SNV |
Pathogenic |
217754 |
rs863225243 |
5:140908023-140908023 |
5:141528456-141528456 |
3 |
DIAPH1 |
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter) |
SNV |
Pathogenic |
522646 |
rs369494682 |
5:140961936-140961936 |
5:141582369-141582369 |
4 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) |
SNV |
Pathogenic |
183344 |
rs730882242 |
5:140953085-140953085 |
5:141573518-141573518 |
5 |
DIAPH1 |
GRCh37/hg19 5q31.3(chr5:140953993-140992629) |
copy number loss |
Pathogenic |
625826 |
|
5:140953993-140992629 |
|
6 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) |
SNV |
Pathogenic |
839955 |
|
5:140954626-140954626 |
5:141575059-141575059 |
7 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) |
Deletion |
Pathogenic |
946228 |
|
5:140913942-140913943 |
5:141534375-141534376 |
8 |
DIAPH1 |
NC_000005.10:g.(?_141516831)_(141618934_?)del |
Deletion |
Pathogenic |
831117 |
|
5:140896398-140998501 |
|
9 |
DIAPH1 |
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) |
Duplication |
Likely pathogenic |
800526 |
rs1596421912 |
5:140998404-140998405 |
5:141618837-141618838 |
10 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) |
SNV |
Uncertain significance |
475696 |
rs367981585 |
5:140957053-140957053 |
5:141577486-141577486 |
11 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) |
SNV |
Uncertain significance |
475700 |
rs751847293 |
5:140953408-140953408 |
5:141573841-141573841 |
12 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) |
SNV |
Uncertain significance |
475706 |
rs756003432 |
5:140905944-140905944 |
5:141526377-141526377 |
13 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) |
SNV |
Uncertain significance |
542356 |
rs1554200929 |
5:140905896-140905896 |
5:141526329-141526329 |
14 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) |
SNV |
Uncertain significance |
542357 |
rs1167599945 |
5:140896426-140896426 |
5:141516859-141516859 |
15 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) |
SNV |
Uncertain significance |
450432 |
rs200606811 |
5:140953259-140953259 |
5:141573692-141573692 |
16 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) |
SNV |
Uncertain significance |
542358 |
rs201719002 |
5:140953669-140953669 |
5:141574102-141574102 |
17 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) |
SNV |
Uncertain significance |
542359 |
rs1303934222 |
5:140908071-140908071 |
5:141528504-141528504 |
18 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) |
SNV |
Uncertain significance |
444663 |
rs781577050 |
5:140905989-140905989 |
5:141526422-141526422 |
19 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) |
SNV |
Uncertain significance |
542360 |
rs371664456 |
5:140896428-140896428 |
5:141516861-141516861 |
20 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) |
SNV |
Uncertain significance |
351292 |
rs367669306 |
5:140953453-140953453 |
5:141573886-141573886 |
21 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) |
SNV |
Uncertain significance |
351289 |
rs373520931 |
5:140953255-140953255 |
5:141573688-141573688 |
22 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1821_1823TCC[14] (p.Pro618_Pro620dup) |
Microsatellite |
Uncertain significance |
542361 |
rs3075570 |
5:140953563-140953564 |
5:141573996-141573997 |
23 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) |
SNV |
Uncertain significance |
163074 |
rs200004048 |
5:140956355-140956355 |
5:141576788-141576788 |
24 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) |
SNV |
Uncertain significance |
542362 |
rs1554199642 |
5:140896510-140896510 |
5:141516943-141516943 |
25 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) |
SNV |
Uncertain significance |
542363 |
rs1554201531 |
5:140909244-140909244 |
5:141529677-141529677 |
26 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) |
SNV |
Uncertain significance |
542364 |
rs199749212 |
5:140953193-140953193 |
5:141573626-141573626 |
27 |
DIAPH1 |
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) |
SNV |
Uncertain significance |
569503 |
rs368889655 |
5:140966650-140966650 |
5:141587083-141587083 |
28 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) |
SNV |
Uncertain significance |
572032 |
rs532205362 |
5:140953063-140953063 |
5:141573496-141573496 |
29 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) |
SNV |
Uncertain significance |
178340 |
rs376220834 |
5:140908118-140908118 |
5:141528551-141528551 |
30 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) |
SNV |
Uncertain significance |
573683 |
rs200688040 |
5:140908487-140908487 |
5:141528920-141528920 |
31 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) |
SNV |
Uncertain significance |
574584 |
rs200251893 |
5:140909178-140909178 |
5:141529611-141529611 |
32 |
DIAPH1 |
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) |
SNV |
Uncertain significance |
575565 |
rs184081055 |
5:140966692-140966692 |
5:141587125-141587125 |
33 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) |
SNV |
Uncertain significance |
575625 |
rs1003389476 |
5:140907256-140907256 |
5:141527689-141527689 |
34 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) |
SNV |
Uncertain significance |
577243 |
rs766731479 |
5:140951542-140951542 |
5:141571975-141571975 |
35 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) |
SNV |
Uncertain significance |
578439 |
rs747116749 |
5:140905693-140905693 |
5:141526126-141526126 |
36 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) |
SNV |
Uncertain significance |
578663 |
rs200394036 |
5:140907238-140907238 |
5:141527671-141527671 |
37 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) |
SNV |
Uncertain significance |
581935 |
rs1317819365 |
5:140954536-140954536 |
5:141574969-141574969 |
38 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) |
SNV |
Uncertain significance |
582965 |
rs779376542 |
5:140908745-140908745 |
5:141529178-141529178 |
39 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1280+3A>G |
SNV |
Uncertain significance |
583322 |
rs747583916 |
5:140957039-140957039 |
5:141577472-141577472 |
40 |
DIAPH1 |
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) |
SNV |
Uncertain significance |
639045 |
rs1596422064 |
5:140998438-140998438 |
5:141618871-141618871 |
41 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) |
SNV |
Uncertain significance |
644123 |
rs200927557 |
5:140957804-140957804 |
5:141578237-141578237 |
42 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) |
SNV |
Uncertain significance |
645115 |
rs1596381822 |
5:140955849-140955849 |
5:141576282-141576282 |
43 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) |
SNV |
Uncertain significance |
646075 |
rs1596337513 |
5:140905984-140905984 |
5:141526417-141526417 |
44 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) |
SNV |
Uncertain significance |
647693 |
rs373896015 |
5:140954610-140954610 |
5:141575043-141575043 |
45 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) |
SNV |
Uncertain significance |
163067 |
rs376593325 |
5:140907183-140907183 |
5:141527616-141527616 |
46 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) |
SNV |
Uncertain significance |
647923 |
rs1596376794 |
5:140951601-140951601 |
5:141572034-141572034 |
47 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) |
SNV |
Uncertain significance |
648734 |
rs369527502 |
5:140954604-140954604 |
5:141575037-141575037 |
48 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) |
SNV |
Uncertain significance |
228575 |
rs201433617 |
5:140953310-140953310 |
5:141573743-141573743 |
49 |
DIAPH1 |
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) |
SNV |
Uncertain significance |
651079 |
rs1292590118 |
5:140966675-140966675 |
5:141587108-141587108 |
50 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) |
SNV |
Uncertain significance |
651087 |
rs200973081 |
5:140953664-140953664 |
5:141574097-141574097 |