1 |
FKTN |
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) |
SNV |
Pathogenic |
3216 |
rs267606814 |
9:108380248-108380248 |
9:105617967-105617967 |
2 |
FKTN |
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) |
Duplication |
Pathogenic |
3203 |
rs398123555 |
9:108382330-108382331 |
9:105620049-105620050 |
3 |
FKTN |
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) |
SNV |
Pathogenic |
225359 |
rs746763506 |
9:108366733-108366733 |
9:105604452-105604452 |
4 |
FKTN |
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) |
SNV |
Pathogenic |
225359 |
rs746763506 |
9:108366733-108366733 |
9:105604452-105604452 |
5 |
FKRP |
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) |
SNV |
Pathogenic |
430845 |
rs775681117 |
19:47259386-47259386 |
19:46756129-46756129 |
6 |
FKTN |
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) |
SNV |
Pathogenic |
3208 |
rs119463992 |
9:108380249-108380249 |
9:105617968-105617968 |
7 |
FKTN |
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) |
Duplication |
Pathogenic/Likely pathogenic |
93523 |
rs398123557 |
9:108366764-108366765 |
9:105604483-105604484 |
8 |
FKTN |
NM_006731.2(FKTN):c.528dup (p.His177fs) |
Duplication |
Likely pathogenic |
666969 |
rs1588112379 |
9:108366651-108366652 |
9:105604370-105604371 |
9 |
FKTN |
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) |
Deletion |
Likely pathogenic |
557908 |
rs1554761402 |
9:108382299-108382300 |
9:105620018-105620019 |
10 |
FKTN |
NM_006731.2(FKTN):c.1172+1G>A |
SNV |
Likely pathogenic |
558161 |
rs1554761462 |
9:108382343-108382343 |
9:105620062-105620062 |
11 |
FKTN |
NM_006731.2(FKTN):c.1173-2A>G |
SNV |
Likely pathogenic |
558611 |
rs1554766808 |
9:108397330-108397330 |
9:105635049-105635049 |
12 |
FKTN |
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) |
Deletion |
Likely pathogenic |
371297 |
rs1057517160 |
9:108370110-108370113 |
9:105607829-105607832 |
13 |
FKTN |
NM_001079802.2(FKTN):c.770del (p.Ala257fs) |
Deletion |
Likely pathogenic |
371050 |
rs1057516966 |
9:108370222-108370222 |
9:105607941-105607941 |
14 |
FKTN |
NM_001079802.2(FKTN):c.429del (p.Asp144fs) |
Deletion |
Likely pathogenic |
370133 |
rs1057516258 |
9:108366553-108366553 |
9:105604272-105604272 |
15 |
FKTN |
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) |
SNV |
Likely pathogenic |
370768 |
rs773884973 |
9:108358882-108358882 |
9:105596601-105596601 |
16 |
FKTN |
NM_006731.2(FKTN):c.780+1G>A |
SNV |
Likely pathogenic |
370420 |
rs370819786 |
9:108370233-108370233 |
9:105607952-105607952 |
17 |
FKTN |
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) |
Duplication |
Likely pathogenic |
281839 |
rs767865405 |
9:108363587-108363588 |
9:105601306-105601307 |
18 |
FKTN |
NM_006731.2(FKTN):c.370-2A>G |
SNV |
Likely pathogenic |
551769 |
rs1554752805 |
9:108366494-108366494 |
9:105604213-105604213 |
19 |
FKTN |
NM_006731.2(FKTN):c.106-2A>G |
SNV |
Likely pathogenic |
552263 |
rs1554748292 |
9:108358877-108358877 |
9:105596596-105596596 |
20 |
FKTN |
NM_006731.2(FKTN):c.1173-1G>A |
SNV |
Likely pathogenic |
552964 |
rs557699482 |
9:108397331-108397331 |
9:105635050-105635050 |
21 |
FKTN |
NM_006731.2(FKTN):c.1173-1G>C |
SNV |
Likely pathogenic |
553352 |
rs557699482 |
9:108397331-108397331 |
9:105635050-105635050 |
22 |
FKTN |
NM_006731.2(FKTN):c.648-1243G>T |
SNV |
Likely pathogenic |
496331 |
rs1554754182 |
9:108368857-108368857 |
9:105606576-105606576 |
23 |
FKTN |
NM_006731.2(FKTN):c.648-1243G>T |
SNV |
Likely pathogenic |
496331 |
rs1554754182 |
9:108368857-108368857 |
9:105606576-105606576 |
24 |
FKTN |
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) |
Deletion |
Likely pathogenic |
551221 |
rs1180986256 |
9:108337312-108337314 |
9:105575031-105575033 |
25 |
FKTN |
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) |
Deletion |
Likely pathogenic |
555661 |
rs1309132512 |
9:108337355-108337355 |
9:105575074-105575074 |
26 |
FKTN |
NM_001079802.2(FKTN):c.1099del (p.Val367fs) |
Deletion |
Likely pathogenic |
556831 |
rs1554761310 |
9:108382269-108382269 |
9:105619988-105619988 |
27 |
FKTN |
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) |
Deletion |
Likely pathogenic |
371091 |
rs750176716 |
9:108382270-108382270 |
9:105619989-105619989 |
28 |
FKTN |
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) |
SNV |
Likely pathogenic |
167069 |
rs537001725 |
9:108366537-108366537 |
9:105604256-105604256 |
29 |
FKTN |
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) |
SNV |
Conflicting interpretations of pathogenicity |
3215 |
rs119464998 |
9:108382282-108382282 |
9:105620001-105620001 |
30 |
FKTN |
NM_001079802.2(FKTN):c.-39G>A |
SNV |
Uncertain significance |
912449 |
|
9:108337275-108337275 |
9:105574994-105574994 |
31 |
FKTN |
NM_006731.2(FKTN):c.911-13A>G |
SNV |
Uncertain significance |
381052 |
rs766103012 |
9:108380227-108380227 |
9:105617946-105617946 |
32 |
FKTN |
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) |
SNV |
Uncertain significance |
36136 |
rs146967918 |
9:108380352-108380352 |
9:105618071-105618071 |
33 |
FKTN |
NM_001079802.2(FKTN):c.*760A>C |
SNV |
Uncertain significance |
912535 |
|
9:108398305-108398305 |
9:105636024-105636024 |
34 |
FKTN |
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) |
SNV |
Uncertain significance |
286471 |
rs146049441 |
9:108366509-108366509 |
9:105604228-105604228 |
35 |
FKTN |
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) |
SNV |
Uncertain significance |
450015 |
rs1187674499 |
9:108366685-108366685 |
9:105604404-105604404 |
36 |
FKTN |
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) |
SNV |
Uncertain significance |
283469 |
rs146272618 |
9:108397387-108397387 |
9:105635106-105635106 |
37 |
FKTN |
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) |
SNV |
Uncertain significance |
499551 |
rs374912618 |
9:108397496-108397496 |
9:105635215-105635215 |
38 |
FKTN |
NM_001079802.2(FKTN):c.*5356C>T |
SNV |
Uncertain significance |
364529 |
rs553575648 |
9:108402901-108402901 |
9:105640620-105640620 |
39 |
FKTN |
NM_001079802.2(FKTN):c.*2640G>C |
SNV |
Uncertain significance |
912629 |
|
9:108400185-108400185 |
9:105637904-105637904 |
40 |
FKTN |
NM_001079802.2(FKTN):c.*2674A>G |
SNV |
Uncertain significance |
912630 |
|
9:108400219-108400219 |
9:105637938-105637938 |
41 |
FKTN |
NM_001079802.2(FKTN):c.*2902C>T |
SNV |
Uncertain significance |
912631 |
|
9:108400447-108400447 |
9:105638166-105638166 |
42 |
FKTN |
NM_001079802.2(FKTN):c.*3985C>T |
SNV |
Uncertain significance |
912668 |
|
9:108401530-108401530 |
9:105639249-105639249 |
43 |
FKTN |
NM_001079802.2(FKTN):c.*4491T>C |
SNV |
Uncertain significance |
912669 |
|
9:108402036-108402036 |
9:105639755-105639755 |
44 |
FKTN |
NM_001079802.2(FKTN):c.*4501A>G |
SNV |
Uncertain significance |
912670 |
|
9:108402046-108402046 |
9:105639765-105639765 |
45 |
FKTN |
NM_006731.2(FKTN):c.207T>C (p.Asn69=) |
SNV |
Uncertain significance |
701478 |
rs752921570 |
9:108363467-108363467 |
9:105601186-105601186 |
46 |
FKTN |
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) |
SNV |
Uncertain significance |
915193 |
|
9:108370157-108370157 |
9:105607876-105607876 |
47 |
FKTN |
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) |
SNV |
Uncertain significance |
390531 |
rs377417974 |
9:108370218-108370218 |
9:105607937-105607937 |
48 |
FKTN |
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) |
SNV |
Uncertain significance |
290479 |
rs558187116 |
9:108377598-108377598 |
9:105615317-105615317 |
49 |
FKTN |
NM_001079802.2(FKTN):c.910+7T>G |
SNV |
Uncertain significance |
912485 |
|
9:108377695-108377695 |
9:105615414-105615414 |
50 |
FKTN |
NM_001079802.2(FKTN):c.*166A>G |
SNV |
Uncertain significance |
915229 |
|
9:108397711-108397711 |
9:105635430-105635430 |