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 |
51 |
CRPPA |
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) |
SNV |
Uncertain significance |
287450 |
rs886043637 |
7:16460748-16460748 |
7:16421123-16421123 |
52 |
CRPPA |
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) |
SNV |
Uncertain significance |
285066 |
rs199691459 |
7:16445900-16445900 |
7:16406275-16406275 |
53 |
CRPPA |
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) |
SNV |
Uncertain significance |
282161 |
rs202108204 |
7:16445688-16445688 |
7:16406063-16406063 |
54 |
CRPPA |
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) |
SNV |
Uncertain significance |
289678 |
rs200334999 |
7:16341073-16341073 |
7:16301448-16301448 |
55 |
CRPPA |
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) |
SNV |
Uncertain significance |
290098 |
rs547473863 |
7:16317806-16317806 |
7:16278181-16278181 |
56 |
CRPPA |
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) |
SNV |
Uncertain significance |
288847 |
rs370397489 |
7:16317773-16317773 |
7:16278148-16278148 |
57 |
CRPPA |
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) |
SNV |
Uncertain significance |
39612 |
rs397515409 |
7:16348224-16348224 |
7:16308599-16308599 |
58 |
CRPPA |
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) |
SNV |
Uncertain significance |
853106 |
|
7:16131326-16131326 |
7:16091701-16091701 |
59 |
CRPPA |
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) |
SNV |
Uncertain significance |
849536 |
|
7:16415727-16415727 |
7:16376102-16376102 |
60 |
CRPPA |
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) |
SNV |
Uncertain significance |
858499 |
|
7:16415755-16415755 |
7:16376130-16376130 |
61 |
CRPPA |
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) |
SNV |
Uncertain significance |
850699 |
|
7:16415836-16415836 |
7:16376211-16376211 |
62 |
CRPPA |
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) |
SNV |
Uncertain significance |
837598 |
|
7:16415851-16415851 |
7:16376226-16376226 |
63 |
CRPPA |
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) |
SNV |
Uncertain significance |
844458 |
|
7:16445905-16445905 |
7:16406280-16406280 |
64 |
CRPPA |
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) |
SNV |
Uncertain significance |
849325 |
|
7:16445958-16445958 |
7:16406333-16406333 |
65 |
CRPPA |
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) |
SNV |
Uncertain significance |
840458 |
|
7:16460824-16460824 |
7:16421199-16421199 |
66 |
CRPPA |
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) |
SNV |
Uncertain significance |
844470 |
|
7:16460890-16460890 |
7:16421265-16421265 |
67 |
CRPPA |
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) |
indel |
Uncertain significance |
664701 |
|
7:16317812-16317813 |
7:16278187-16278188 |
68 |
CRPPA |
NC_000007.14:g.(?_16091685)_(16091809_?)del |
deletion |
Uncertain significance |
662846 |
|
7:16131310-16131434 |
7:16091685-16091809 |
69 |
CRPPA |
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) |
SNV |
Uncertain significance |
447580 |
rs762370550 |
7:16445943-16445943 |
7:16406318-16406318 |
70 |
CRPPA |
NM_001101426.4(CRPPA):c.836-5T>G |
SNV |
Uncertain significance |
640873 |
|
7:16317856-16317856 |
7:16278231-16278231 |
71 |
CRPPA |
NM_001101426.4(CRPPA):c.933+5G>C |
SNV |
Uncertain significance |
520427 |
rs1554305652 |
7:16317749-16317749 |
7:16278124-16278124 |
72 |
CRPPA |
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) |
SNV |
Uncertain significance |
497567 |
rs1008210645 |
7:16415765-16415765 |
7:16376140-16376140 |
73 |
CRPPA |
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) |
SNV |
Uncertain significance |
497569 |
rs1292380177 |
7:16460727-16460727 |
7:16421102-16421102 |
74 |
CRPPA |
NC_000007.14:g.(?_16216046)_(16216217_?)del |
deletion |
Uncertain significance |
540375 |
|
7:16255671-16255842 |
7:16216046-16216217 |
75 |
CRPPA |
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) |
SNV |
Uncertain significance |
540370 |
rs202126749 |
7:16298586-16298586 |
7:16258961-16258961 |
76 |
CRPPA |
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) |
SNV |
Uncertain significance |
473158 |
rs754348253 |
7:16341065-16341065 |
7:16301440-16301440 |
77 |
CRPPA |
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) |
SNV |
Uncertain significance |
473157 |
rs369193825 |
7:16348161-16348161 |
7:16308536-16308536 |
78 |
CRPPA |
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) |
SNV |
Uncertain significance |
473155 |
rs1356080750 |
7:16445864-16445864 |
7:16406239-16406239 |
79 |
CRPPA |
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) |
SNV |
Uncertain significance |
473153 |
rs369832637 |
7:16298561-16298561 |
7:16258936-16258936 |
80 |
CRPPA |
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) |
SNV |
Uncertain significance |
473156 |
rs770257307 |
7:16348244-16348244 |
7:16308619-16308619 |
81 |
CRPPA |
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) |
SNV |
Uncertain significance |
572350 |
rs1036959263 |
7:16460788-16460788 |
7:16421163-16421163 |
82 |
CRPPA |
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) |
SNV |
Uncertain significance |
582562 |
rs566179705 |
7:16415787-16415787 |
7:16376162-16376162 |
83 |
CRPPA |
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) |
SNV |
Uncertain significance |
540372 |
rs1037010291 |
7:16460935-16460935 |
7:16421310-16421310 |
84 |
CRPPA |
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) |
SNV |
Uncertain significance |
540371 |
rs750477422 |
7:16317840-16317840 |
7:16278215-16278215 |
85 |
CRPPA |
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) |
SNV |
Uncertain significance |
574208 |
rs373422736 |
7:16298581-16298581 |
7:16258956-16258956 |
86 |
CRPPA |
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) |
SNV |
Uncertain significance |
579387 |
rs886042489 |
7:16460755-16460755 |
7:16421130-16421130 |
87 |
CRPPA |
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) |
SNV |
Uncertain significance |
594085 |
rs762217429 |
7:16255750-16255750 |
7:16216125-16216125 |
88 |
CRPPA |
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) |
SNV |
Uncertain significance |
653779 |
|
7:16415758-16415758 |
7:16376133-16376133 |
89 |
CRPPA |
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) |
SNV |
Uncertain significance |
666121 |
|
7:16415761-16415761 |
7:16376136-16376136 |
90 |
CRPPA |
NC_000007.14:g.(?_16216056)_(16216207_?)del |
deletion |
Uncertain significance |
662864 |
|
7:16255681-16255832 |
7:16216056-16216207 |
91 |
CRPPA |
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) |
SNV |
Likely benign |
473154 |
rs773884120 |
7:16298554-16298554 |
7:16258929-16258929 |
92 |
CRPPA |
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) |
SNV |
Likely benign |
473160 |
rs1554300356 |
7:16298626-16298626 |
7:16259001-16259001 |
93 |
CRPPA |
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) |
SNV |
Likely benign |
540373 |
rs541412708 |
7:16445812-16445812 |
7:16406187-16406187 |
94 |
CRPPA |
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) |
SNV |
Likely benign |
718824 |
|
7:16460777-16460777 |
7:16421152-16421152 |
95 |
CRPPA |
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) |
SNV |
Benign/Likely benign |
129285 |
rs141625803 |
7:16255722-16255722 |
7:16216097-16216097 |
96 |
CRPPA |
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) |
SNV |
Benign/Likely benign |
129286 |
rs192925278 |
7:16460916-16460916 |
7:16421291-16421291 |
97 |
CRPPA |
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) |
SNV |
Benign/Likely benign |
257463 |
rs187484645 |
7:16460881-16460881 |
7:16421256-16421256 |
98 |
CRPPA |
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) |
SNV |
Benign/Likely benign |
359592 |
rs61744487 |
7:16445874-16445874 |
7:16406249-16406249 |
99 |
CRPPA |
NM_001101426.4(CRPPA):c.534+13T>A |
SNV |
Benign |
226675 |
rs6461252 |
7:16445673-16445673 |
7:16406048-16406048 |
100 |
CRPPA |
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) |
SNV |
Benign |
198454 |
rs114363936 |
7:16298624-16298624 |
7:16258999-16258999 |
101 |
CRPPA |
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) |
SNV |
Benign |
129287 |
rs61734789 |
7:16445813-16445813 |
7:16406188-16406188 |
102 |
CRPPA |
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) |
SNV |
Benign |
129288 |
rs7782939 |
7:16460893-16460893 |
7:16421268-16421268 |
103 |
CRPPA |
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) |
SNV |
Benign |
129289 |
rs61746966 |
7:16348211-16348211 |
7:16308586-16308586 |