1 |
DIAPH1 |
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter) |
SNV |
Pathogenic |
522646 |
rs369494682 |
5:140961936-140961936 |
5:141582369-141582369 |
2 |
DIAPH1 |
GRCh37/hg19 5q31.3(chr5:140953993-140992629) |
copy number loss |
Pathogenic |
625826 |
|
5:140953993-140992629 |
|
3 |
DIAPH1 |
NC_000005.10:g.(?_141516831)_(141618934_?)del |
deletion |
Pathogenic |
831117 |
|
5:140896398-140998501 |
|
4 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) |
SNV |
Pathogenic |
839955 |
|
5:140954626-140954626 |
5:141575059-141575059 |
5 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2769del (p.Phe923fs) |
deletion |
Pathogenic |
217753 |
rs863225242 |
5:140908748-140908748 |
5:141529181-141529181 |
6 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter) |
SNV |
Pathogenic |
217754 |
rs863225243 |
5:140908023-140908023 |
5:141528456-141528456 |
7 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) |
SNV |
Pathogenic/Likely pathogenic |
183344 |
rs730882242 |
5:140953085-140953085 |
5:141573518-141573518 |
8 |
DIAPH1 |
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) |
duplication |
Likely pathogenic |
800526 |
|
5:140998404-140998405 |
5:141618837-141618838 |
9 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1821_1823TCC[9] (p.Pro619_Pro620del) |
short repeat |
Conflicting interpretations of pathogenicity |
351294 |
rs3075570 |
5:140953564-140953569 |
5:141573997-141574002 |
10 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) |
SNV |
Conflicting interpretations of pathogenicity |
351296 |
rs193036129 |
5:140955835-140955835 |
5:141576268-141576268 |
11 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) |
SNV |
Conflicting interpretations of pathogenicity |
227300 |
rs189809247 |
5:140953648-140953648 |
5:141574081-141574081 |
12 |
DIAPH1 |
NM_005219.5(DIAPH1):c.685-5A>G |
SNV |
Conflicting interpretations of pathogenicity |
228578 |
rs367786290 |
5:140960455-140960455 |
5:141580888-141580888 |
13 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) |
SNV |
Conflicting interpretations of pathogenicity |
194639 |
rs182139018 |
5:140953681-140953681 |
5:141574114-141574114 |
14 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1821_1823TCC[8] (p.Pro618_Pro620del) |
short repeat |
Conflicting interpretations of pathogenicity |
593399 |
rs3075570 |
5:140953564-140953572 |
5:141573997-141574005 |
15 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) |
SNV |
Conflicting interpretations of pathogenicity |
582965 |
rs779376542 |
5:140908745-140908745 |
5:141529178-141529178 |
16 |
DIAPH1 |
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) |
SNV |
Conflicting interpretations of pathogenicity |
45216 |
rs201149420 |
5:140960448-140960448 |
5:141580881-141580881 |
17 |
DIAPH1 |
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) |
SNV |
Conflicting interpretations of pathogenicity |
542372 |
rs202061556 |
5:140962814-140962814 |
5:141583247-141583247 |
18 |
DIAPH1 |
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) |
SNV |
Conflicting interpretations of pathogenicity |
542369 |
rs369453319 |
5:140958157-140958157 |
5:141578590-141578590 |
19 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) |
SNV |
Conflicting interpretations of pathogenicity |
542364 |
rs199749212 |
5:140953193-140953193 |
5:141573626-141573626 |
20 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) |
SNV |
Conflicting interpretations of pathogenicity |
450432 |
rs200606811 |
5:140953259-140953259 |
5:141573692-141573692 |
21 |
DIAPH1 |
NM_005219.4(DIAPH1):c.3439-3del |
deletion |
Conflicting interpretations of pathogenicity |
475707 |
rs1335130331 |
5:140905743-140905743 |
5:141526176-141526176 |
22 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) |
SNV |
Uncertain significance |
475705 |
rs1554201371 |
5:140908284-140908284 |
5:141528717-141528717 |
23 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) |
SNV |
Uncertain significance |
475700 |
rs751847293 |
5:140953408-140953408 |
5:141573841-141573841 |
24 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) |
SNV |
Uncertain significance |
475701 |
rs199830182 |
5:140953318-140953318 |
5:141573751-141573751 |
25 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) |
SNV |
Uncertain significance |
475696 |
rs367981585 |
5:140957053-140957053 |
5:141577486-141577486 |
26 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) |
SNV |
Uncertain significance |
475706 |
rs756003432 |
5:140905944-140905944 |
5:141526377-141526377 |
27 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) |
SNV |
Uncertain significance |
444663 |
rs781577050 |
5:140905989-140905989 |
5:141526422-141526422 |
28 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) |
SNV |
Uncertain significance |
475709 |
rs764739820 |
5:140896536-140896536 |
5:141516969-141516969 |
29 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) |
SNV |
Uncertain significance |
542358 |
rs201719002 |
5:140953669-140953669 |
5:141574102-141574102 |
30 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1821_1823TCC[14] (p.Pro618_Pro620dup) |
short repeat |
Uncertain significance |
542361 |
rs3075570 |
5:140953563-140953564 |
5:141573996-141573997 |
31 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) |
SNV |
Uncertain significance |
542357 |
rs1167599945 |
5:140896426-140896426 |
5:141516859-141516859 |
32 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) |
SNV |
Uncertain significance |
542360 |
rs371664456 |
5:140896428-140896428 |
5:141516861-141516861 |
33 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) |
SNV |
Uncertain significance |
504567 |
rs373275414 |
5:140908117-140908117 |
5:141528550-141528550 |
34 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3574+6G>C |
SNV |
Uncertain significance |
517343 |
rs538555634 |
5:140905599-140905599 |
5:141526032-141526032 |
35 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) |
SNV |
Uncertain significance |
542362 |
rs1554199642 |
5:140896510-140896510 |
5:141516943-141516943 |
36 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) |
SNV |
Uncertain significance |
542356 |
rs1554200929 |
5:140905896-140905896 |
5:141526329-141526329 |
37 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) |
SNV |
Uncertain significance |
542359 |
rs1303934222 |
5:140908071-140908071 |
5:141528504-141528504 |
38 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) |
SNV |
Uncertain significance |
542363 |
rs1554201531 |
5:140909244-140909244 |
5:141529677-141529677 |
39 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) |
SNV |
Uncertain significance |
548628 |
rs201433617 |
5:140953310-140953310 |
5:141573743-141573743 |
40 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) |
SNV |
Uncertain significance |
572032 |
rs532205362 |
5:140953063-140953063 |
5:141573496-141573496 |
41 |
DIAPH1 |
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) |
SNV |
Uncertain significance |
575565 |
rs184081055 |
5:140966692-140966692 |
5:141587125-141587125 |
42 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) |
SNV |
Uncertain significance |
575625 |
rs1003389476 |
5:140907256-140907256 |
5:141527689-141527689 |
43 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) |
SNV |
Uncertain significance |
573683 |
rs200688040 |
5:140908487-140908487 |
5:141528920-141528920 |
44 |
DIAPH1 |
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) |
SNV |
Uncertain significance |
574584 |
rs200251893 |
5:140909178-140909178 |
5:141529611-141529611 |
45 |
DIAPH1 |
NM_005219.5(DIAPH1):c.1280+3A>G |
SNV |
Uncertain significance |
583322 |
rs747583916 |
5:140957039-140957039 |
5:141577472-141577472 |
46 |
DIAPH1 |
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) |
SNV |
Uncertain significance |
568520 |
rs766359994 |
5:140960411-140960411 |
5:141580844-141580844 |
47 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) |
SNV |
Uncertain significance |
578439 |
rs747116749 |
5:140905693-140905693 |
5:141526126-141526126 |
48 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) |
SNV |
Uncertain significance |
578663 |
rs200394036 |
5:140907238-140907238 |
5:141527671-141527671 |
49 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) |
SNV |
Uncertain significance |
655958 |
|
5:140896470-140896470 |
5:141516903-141516903 |
50 |
DIAPH1 |
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) |
SNV |
Uncertain significance |
655416 |
|
5:140905980-140905980 |
5:141526413-141526413 |