1 |
CRPPA |
NC_000007.13:g.(?_16341026)_(16348272_?)del |
deletion |
Pathogenic |
473151 |
|
7:16341026-16348272 |
|
2 |
CRPPA |
NC_000007.14:g.(?_16406061)_(16406337_?)del |
deletion |
Pathogenic |
473152 |
|
|
7:16406061-16406337 |
3 |
CRPPA |
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) |
deletion |
Pathogenic |
473159 |
rs1554305719 |
7:16317801-16317813 |
7:16278176-16278188 |
4 |
CRPPA |
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) |
SNV |
Pathogenic |
561034 |
rs186882839 |
7:16131322-16131322 |
7:16091697-16091697 |
5 |
CRPPA |
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) |
SNV |
Pathogenic |
561033 |
rs1202301143 |
7:16131361-16131361 |
7:16091736-16091736 |
6 |
CRPPA |
NC_000007.14:g.(?_16091675)_(16216217_?)del |
deletion |
Pathogenic |
583718 |
|
7:16131300-16255842 |
7:16091675-16216217 |
7 |
CRPPA |
NC_000007.14:g.(?_16308523)_(16689906_?)del |
deletion |
Pathogenic |
583954 |
|
7:16348148-16729531 |
7:16308523-16689906 |
8 |
CRPPA |
NC_000007.14:g.(?_16216046)_(16376261_?)del |
deletion |
Pathogenic |
583458 |
|
7:16255671-16415886 |
7:16216046-16376261 |
9 |
CRPPA |
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) |
SNV |
Pathogenic |
656769 |
|
7:16348164-16348164 |
7:16308539-16308539 |
10 |
CRPPA |
NC_000007.14:g.(?_16308513)_(16376251_?)del |
deletion |
Pathogenic |
663410 |
|
7:16348138-16415876 |
7:16308513-16376251 |
11 |
CRPPA |
NC_000007.14:g.(?_16301411)_(16308637_?)del |
deletion |
Pathogenic |
656841 |
|
7:16341036-16348262 |
7:16301411-16308637 |
12 |
CRPPA |
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) |
SNV |
Pathogenic |
31565 |
rs387907160 |
7:16415754-16415754 |
7:16376129-16376129 |
13 |
CRPPA |
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) |
SNV |
Pathogenic |
31566 |
rs387907161 |
7:16341049-16341049 |
7:16301424-16301424 |
14 |
CRPPA |
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) |
SNV |
Pathogenic |
31567 |
rs387907162 |
7:16445856-16445856 |
7:16406231-16406231 |
15 |
CRPPA |
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) |
SNV |
Pathogenic |
31568 |
rs368593151 |
7:16341079-16341079 |
7:16301454-16301454 |
16 |
CRPPA |
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) |
SNV |
Pathogenic |
39609 |
rs397515408 |
7:16415763-16415763 |
7:16376138-16376138 |
17 |
CRPPA |
NM_001101426.3(CRPPA):c.535-?_933+?del |
deletion |
Pathogenic |
39610 |
|
7:16317753-16415867 |
7:16278129-16376241 |
18 |
CRPPA |
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) |
SNV |
Pathogenic |
39611 |
rs397514547 |
7:16445754-16445754 |
7:16406129-16406129 |
19 |
CRPPA |
NM_001101426.4(CRPPA):c.1120-1G>T |
SNV |
Pathogenic |
31561 |
rs397515396 |
7:16255823-16255823 |
7:16216198-16216198 |
20 |
CRPPA |
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del |
deletion |
Pathogenic |
31562 |
|
7:16401191-16431594 |
7:16361566-16391969 |
21 |
CRPPA |
NM_001101426.4(CRPPA):c.789+2T>G |
SNV |
Pathogenic |
31563 |
rs397515397 |
7:16348146-16348146 |
7:16308521-16308521 |
22 |
CRPPA |
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) |
SNV |
Pathogenic |
39613 |
rs397514548 |
7:16460692-16460692 |
7:16421067-16421067 |
23 |
CRPPA |
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) |
duplication |
Pathogenic |
279985 |
rs886041302 |
7:16460894-16460895 |
7:16421269-16421270 |
24 |
CRPPA |
NM_001101426.4(CRPPA):c.258-1G>C |
SNV |
Pathogenic/Likely pathogenic |
287941 |
rs767978961 |
7:16445963-16445963 |
7:16406338-16406338 |
25 |
CRPPA |
NC_000007.14:g.(?_16258380)_(16259022_?)del |
deletion |
Likely pathogenic |
661726 |
|
7:16298005-16298647 |
7:16258380-16259022 |
26 |
CRPPA |
NC_000007.14:g.(?_16376072)_(16376261_?)del |
deletion |
Likely pathogenic |
583821 |
|
7:16415697-16415886 |
7:16376072-16376261 |
27 |
CRPPA |
NM_001101426.4(CRPPA):c.835+2T>C |
SNV |
Likely pathogenic |
582317 |
rs773325665 |
7:16341044-16341044 |
7:16301419-16301419 |
28 |
CRPPA |
NC_000007.14:g.(?_16258370)_(16259032_?)del |
deletion |
Likely pathogenic |
540374 |
|
7:16297995-16298657 |
7:16258370-16259032 |
29 |
CRPPA |
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) |
SNV |
Conflicting interpretations of pathogenicity |
497232 |
rs1466053365 |
7:16317772-16317772 |
7:16278147-16278147 |
30 |
CRPPA |
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) |
SNV |
Conflicting interpretations of pathogenicity |
514247 |
rs371300262 |
7:16317811-16317811 |
7:16278186-16278186 |
31 |
CRPPA |
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) |
SNV |
Conflicting interpretations of pathogenicity |
513049 |
rs532057629 |
7:16415756-16415756 |
7:16376131-16376131 |
32 |
CRPPA |
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) |
SNV |
Conflicting interpretations of pathogenicity |
596238 |
rs763209907 |
7:16460705-16460705 |
7:16421080-16421080 |
33 |
CRPPA |
NM_001101426.4(CRPPA):c.1120-10T>C |
SNV |
Conflicting interpretations of pathogenicity |
774187 |
|
7:16255832-16255832 |
7:16216207-16216207 |
34 |
CRPPA |
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) |
deletion |
Conflicting interpretations of pathogenicity |
31564 |
rs397515398 |
7:16445941-16445943 |
7:16406316-16406318 |
35 |
CRPPA |
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) |
SNV |
Conflicting interpretations of pathogenicity |
288180 |
rs761842188 |
7:16460825-16460825 |
7:16421200-16421200 |
36 |
CRPPA |
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) |
SNV |
Conflicting interpretations of pathogenicity |
288817 |
rs183141256 |
7:16445860-16445860 |
7:16406235-16406235 |
37 |
CRPPA |
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) |
SNV |
Conflicting interpretations of pathogenicity |
289346 |
rs373134516 |
7:16255696-16255696 |
7:16216071-16216071 |
38 |
CRPPA |
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) |
SNV |
Conflicting interpretations of pathogenicity |
289677 |
rs773739293 |
7:16415850-16415850 |
7:16376225-16376225 |
39 |
CRPPA |
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) |
SNV |
Conflicting interpretations of pathogenicity |
281957 |
rs376909665 |
7:16298572-16298572 |
7:16258947-16258947 |
40 |
CRPPA |
NM_001101426.4(CRPPA):c.531C>T (p.His177=) |
SNV |
Conflicting interpretations of pathogenicity |
282178 |
rs376195897 |
7:16445689-16445689 |
7:16406064-16406064 |
41 |
CRPPA |
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) |
SNV |
Conflicting interpretations of pathogenicity |
193158 |
rs558064127 |
7:16460869-16460869 |
7:16421244-16421244 |
42 |
CRPPA |
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) |
SNV |
Conflicting interpretations of pathogenicity |
198765 |
rs181099904 |
7:16298075-16298075 |
7:16258450-16258450 |
43 |
CRPPA |
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) |
SNV |
Conflicting interpretations of pathogenicity |
198766 |
rs185594460 |
7:16298080-16298080 |
7:16258455-16258455 |
44 |
CRPPA |
NM_001101426.4(CRPPA):c.934-5A>G |
SNV |
Conflicting interpretations of pathogenicity |
286202 |
rs886043337 |
7:16298642-16298642 |
7:16259017-16259017 |
45 |
CRPPA |
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) |
SNV |
Conflicting interpretations of pathogenicity |
290676 |
rs201334104 |
7:16341053-16341053 |
7:16301428-16301428 |
46 |
CRPPA |
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) |
SNV |
Conflicting interpretations of pathogenicity |
359591 |
rs183141256 |
7:16445860-16445860 |
7:16406235-16406235 |
47 |
CRPPA |
NM_001101426.4(CRPPA):c.933+3A>G |
SNV |
Conflicting interpretations of pathogenicity |
387587 |
rs377582530 |
7:16317751-16317751 |
7:16278126-16278126 |
48 |
CRPPA |
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) |
SNV |
Uncertain significance |
373694 |
rs373890080 |
7:16317792-16317792 |
7:16278167-16278167 |
49 |
CRPPA |
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) |
SNV |
Uncertain significance |
291224 |
rs886044693 |
7:16298580-16298580 |
7:16258955-16258955 |
50 |
CRPPA |
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) |
SNV |
Uncertain significance |
359589 |
rs374054216 |
7:16415775-16415775 |
7:16376150-16376150 |