1 |
CFI |
NM_000204.4(CFI):c.310G>A (p.Gly104Arg) |
SNV |
Likely pathogenic |
522480 |
rs200419722 |
4:110687728-110687728 |
4:109766572-109766572 |
2 |
CFI |
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) |
SNV |
Likely pathogenic |
631934 |
rs368615806 |
4:110682772-110682772 |
4:109761616-109761616 |
3 |
CFI |
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys) |
SNV |
Likely pathogenic |
635432 |
|
4:110667642-110667642 |
4:109746486-109746486 |
4 |
CFI |
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) |
SNV |
Likely pathogenic |
829988 |
|
4:110670404-110670404 |
4:109749248-109749248 |
5 |
CFI |
NM_000204.4(CFI):c.1420C>T (p.Arg474Ter) |
SNV |
risk factor |
12121 |
rs121964913 |
4:110667387-110667387 |
4:109746231-109746231 |
6 |
CFI |
NM_000204.4(CFI):c.1571A>T (p.Asp524Val) |
SNV |
risk factor |
12122 |
rs121964914 |
4:110662230-110662230 |
4:109741074-109741074 |
7 |
CFI |
NM_000204.4(CFI):c.1637G>A (p.Trp546Ter) |
SNV |
risk factor |
12123 |
rs121964915 |
4:110662164-110662164 |
4:109741008-109741008 |
8 |
CFI |
NM_000204.4(CFI):c.949C>T (p.Arg317Trp) |
SNV |
risk factor |
12125 |
rs121964917 |
4:110670750-110670750 |
4:109749594-109749594 |
9 |
CFI |
NM_000204.4(CFI):c.1555G>A (p.Asp519Asn) |
SNV |
risk factor |
12126 |
rs121964918 |
4:110662246-110662246 |
4:109741090-109741090 |
10 |
CFI |
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) |
SNV |
Uncertain significance |
66014 |
rs141853578 |
4:110685820-110685820 |
4:109764664-109764664 |
11 |
CFI |
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) |
SNV |
Uncertain significance |
903199 |
|
4:110685751-110685751 |
4:109764595-109764595 |
12 |
CFI |
NM_000204.5(CFI):c.373G>C (p.Gly125Arg) |
SNV |
Uncertain significance |
903200 |
|
4:110685802-110685802 |
4:109764646-109764646 |
13 |
CFI |
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) |
SNV |
Uncertain significance |
899590 |
|
4:110687890-110687890 |
4:109766734-109766734 |
14 |
CFI |
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) |
SNV |
Uncertain significance |
899591 |
|
4:110687947-110687947 |
4:109766791-109766791 |
15 |
CFI |
NM_000204.5(CFI):c.60C>T (p.Val20=) |
SNV |
Uncertain significance |
899592 |
|
4:110687978-110687978 |
4:109766822-109766822 |
16 |
CFI |
NM_000204.5(CFI):c.1A>G (p.Met1Val) |
SNV |
Uncertain significance |
899595 |
|
4:110723127-110723127 |
4:109801971-109801971 |
17 |
CFI |
NC_000004.12:g.109802142C>T |
SNV |
Uncertain significance |
900731 |
|
4:110723298-110723298 |
4:109802142-109802142 |
18 |
CFI |
NM_000204.5(CFI):c.57+9T>C |
SNV |
Uncertain significance |
899593 |
|
4:110723062-110723062 |
4:109801906-109801906 |
19 |
CFI |
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) |
SNV |
Uncertain significance |
829894 |
|
4:110681459-110681459 |
4:109760303-109760303 |
20 |
CFI |
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) |
SNV |
Uncertain significance |
829862 |
|
4:110687854-110687854 |
4:109766698-109766698 |
21 |
CFI |
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) |
SNV |
Uncertain significance |
900656 |
|
4:110670749-110670749 |
4:109749593-109749593 |
22 |
CFI |
NM_000204.5(CFI):c.781G>A (p.Gly261Ser) |
SNV |
Uncertain significance |
902336 |
|
4:110681528-110681528 |
4:109760372-109760372 |
23 |
CFI |
NM_000204.4(CFI):c.209A>C (p.Asn70Thr) |
SNV |
Uncertain significance |
635452 |
|
4:110687829-110687829 |
4:109766673-109766673 |
24 |
CFI |
NM_000204.4(CFI):c.205A>G (p.Lys69Glu) |
SNV |
Uncertain significance |
599091 |
rs771325547 |
4:110687833-110687833 |
4:109766677-109766677 |
25 |
CFI |
NM_000204.4(CFI):c.1532C>T (p.Ala511Val) |
SNV |
Uncertain significance |
625917 |
rs760801046 |
4:110663649-110663649 |
4:109742493-109742493 |
26 |
CFI |
NM_000204.4(CFI):c.454G>A (p.Val152Met) |
SNV |
Uncertain significance |
420176 |
rs367677199 |
4:110685721-110685721 |
4:109764565-109764565 |
27 |
CFI |
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) |
SNV |
Uncertain significance |
438686 |
rs200973120 |
4:110662092-110662092 |
4:109740936-109740936 |
28 |
CFI |
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) |
SNV |
Uncertain significance |
829951 |
|
4:110667452-110667452 |
4:109746296-109746296 |
29 |
CFI |
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) |
SNV |
Uncertain significance |
829989 |
|
4:110667647-110667647 |
4:109746491-109746491 |
30 |
CFI |
NM_000204.4(CFI):c.1044+9G>A |
SNV |
Uncertain significance |
347161 |
rs568070697 |
4:110670646-110670646 |
4:109749490-109749490 |
31 |
CFI |
NM_000204.4(CFI):c.-98T>C |
SNV |
Uncertain significance |
347178 |
rs886058984 |
4:110723225-110723225 |
4:109802069-109802069 |
32 |
CFI |
NM_000204.4(CFI):c.1429G>C (p.Asp477His) |
SNV |
Uncertain significance |
347153 |
rs754972981 |
4:110667378-110667378 |
4:109746222-109746222 |
33 |
CFI |
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) |
SNV |
Uncertain significance |
347155 |
rs886058983 |
4:110667426-110667426 |
4:109746270-109746270 |
34 |
CFI |
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) |
SNV |
Uncertain significance |
347149 |
rs886058982 |
4:110663665-110663665 |
4:109742509-109742509 |
35 |
CFI |
NM_000204.4(CFI):c.1429+5A>G |
SNV |
Uncertain significance |
347152 |
rs771786368 |
4:110667373-110667373 |
4:109746217-109746217 |
36 |
CFI |
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) |
SNV |
Uncertain significance |
347160 |
rs763931500 |
4:110670410-110670410 |
4:109749254-109749254 |
37 |
CFI |
NM_000204.4(CFI):c.905-3T>C |
SNV |
Uncertain significance |
347164 |
rs377535161 |
4:110673662-110673662 |
4:109752506-109752506 |
38 |
CFI |
NM_000204.4(CFI):c.540A>G (p.Glu180=) |
SNV |
Likely benign |
347169 |
rs759777516 |
4:110682791-110682791 |
4:109761635-109761635 |
39 |
CFI |
NM_000204.4(CFI):c.916A>G (p.Ile306Val) |
SNV |
Likely benign |
347163 |
rs113273712 |
4:110673648-110673648 |
4:109752492-109752492 |
40 |
CFI |
NM_000204.4(CFI):c.129C>T (p.Cys43=) |
SNV |
Likely benign |
347176 |
rs146462954 |
4:110687909-110687909 |
4:109766753-109766753 |
41 |
CFI |
NM_000204.4(CFI):c.309C>T (p.Asn103=) |
SNV |
Likely benign |
347175 |
rs761425840 |
4:110687729-110687729 |
4:109766573-109766573 |
42 |
CFI |
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) |
SNV |
Likely benign |
347146 |
rs113460688 |
4:110662144-110662144 |
4:109740988-109740988 |
43 |
CFI |
NM_000204.5(CFI):c.57+4A>G |
SNV |
Likely benign |
899594 |
|
4:110723067-110723067 |
4:109801911-109801911 |
44 |
CFI |
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) |
SNV |
Likely benign |
65580 |
rs112534524 |
4:110681527-110681527 |
4:109760371-109760371 |
45 |
CFI |
NM_000204.5(CFI):c.1534+5G>T |
SNV |
Benign/Likely benign |
252469 |
rs114013791 |
4:110663642-110663642 |
4:109742486-109742486 |
46 |
CFI |
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) |
SNV |
Benign/Likely benign |
347147 |
rs7437875 |
4:110662159-110662159 |
4:109741003-109741003 |
47 |
CFI |
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) |
SNV |
Benign/Likely benign |
347157 |
rs61733901 |
4:110667561-110667561 |
4:109746405-109746405 |
48 |
CFI |
NM_000204.4(CFI):c.*144T>C |
SNV |
Benign |
347142 |
rs77449037 |
4:110661905-110661905 |
4:109740749-109740749 |
49 |
CFI |
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) |
SNV |
Benign |
347156 |
rs41278047 |
4:110667485-110667485 |
4:109746329-109746329 |
50 |
CFI |
NM_000204.4(CFI):c.1206C>T (p.Pro402=) |
SNV |
Benign |
347159 |
rs115780371 |
4:110667601-110667601 |
4:109746445-109746445 |