17-4069569-G-A
|
c.*1504C>T |
splice_region |
ANKFY1 |
1 |
36434 |
2.74469E-5 |
18217 |
0 |
NA |
17-4071073-C-A
|
p.Ter1170Tyrext*? |
stop_lost |
ANKFY1 |
2 |
80794 |
2.47543E-5 |
40397 |
0 |
NA |
17-4071074-T-C
|
p.Ter1170Trpext*? |
stop_lost |
ANKFY1 |
2 |
80818 |
2.4747E-5 |
40409 |
0 |
3.18593E-5 |
17-4071082-C-A
|
p.Gly1167Gly |
synonymous |
ANKFY1 |
2 |
80856 |
2.47353E-5 |
40428 |
0 |
1.84589E-4 |
17-4071101-TCAAAA-T
|
p.Cys1159fs |
frameshift |
ANKFY1 |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
NA |
17-4071121-C-T
|
p.Arg1154Arg |
synonymous |
ANKFY1 |
4 |
81008 |
4.93778E-5 |
40504 |
0 |
6.37064E-5 |
17-4071123-G-T
|
p.Arg1154Arg |
synonymous |
ANKFY1 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
2.80653E-5 |
17-4071137-A-T
|
p.Leu1149Gln |
missense |
ANKFY1 |
1 |
80982 |
1.23484E-5 |
40491 |
0 |
NA |
17-4071138-G-A
|
p.Leu1149Leu |
synonymous |
ANKFY1 |
7 |
80986 |
8.64347E-5 |
40493 |
0 |
0.00375 |
17-4071150-T-C
|
p.Ile1145Val |
missense |
ANKFY1 |
2 |
80990 |
2.46944E-5 |
40495 |
0 |
2.0042E-5 |
17-4071153-T-A
|
p.Ile1144Phe |
missense |
ANKFY1 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
NA |
17-4071154-A-G
|
p.Pro1143Pro |
synonymous |
ANKFY1 |
2 |
80996 |
2.46926E-5 |
40498 |
0 |
NA |
17-4071157-A-G
|
p.Ile1142Ile |
synonymous |
ANKFY1 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
NA |
17-4071169-C-T
|
p.Ser1138Ser |
synonymous |
ANKFY1 |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
6.25E-4 |
17-4071188-A-C
|
p.Leu1132Arg |
missense |
ANKFY1 |
4 |
80938 |
4.94205E-5 |
40469 |
0 |
NA |
17-4071196-G-A
|
p.Cys1129Cys |
synonymous |
ANKFY1 |
2 |
80894 |
2.47237E-5 |
40447 |
0 |
8.32335E-6 |
17-4071444-TG-T
|
c.*423delC |
splice_region |
ANKFY1 |
1 |
23764 |
4.20805E-5 |
11882 |
0 |
NA |
17-4071445-G-T
|
c.*423C>A |
splice_region |
ANKFY1 |
3 |
22170 |
1.35318E-4 |
11085 |
0 |
0.0180295 |
17-4071485-G-A
|
c.*383C>T |
splice_region |
ANKFY1 |
2 |
5906 |
3.38639E-4 |
2953 |
0 |
6.54065E-5 |
17-4072484-G-A
|
c.3377+8C>T |
splice_region |
ANKFY1 |
1 |
68180 |
1.46671E-5 |
34090 |
0 |
NA |
17-4072485-G-A
|
c.3377+7C>T |
splice_region |
ANKFY1 |
1 |
68364 |
1.46276E-5 |
34182 |
0 |
6.48963E-6 |
17-4072518-G-A
|
p.Phe1117Phe |
synonymous |
ANKFY1 |
2 |
71934 |
2.78033E-5 |
35967 |
0 |
3.18451E-5 |
17-4072527-A-G
|
p.Thr1114Thr |
synonymous |
ANKFY1 |
1 |
72484 |
1.37961E-5 |
36242 |
0 |
6.3782E-6 |
17-4072551-G-A
|
p.Asp1106Asp |
synonymous |
ANKFY1 |
1 |
72454 |
1.38019E-5 |
36227 |
0 |
3.18613E-5 |
17-4072571-T-G
|
p.Lys1100Gln |
missense |
ANKFY1 |
23 |
72040 |
3.19267E-4 |
36020 |
0 |
7.32764E-4 |
17-4072574-A-G
|
p.Ser1099Pro |
missense |
ANKFY1 |
28 |
71724 |
3.90385E-4 |
35862 |
0 |
0.00187735 |
17-4072579-A-G
|
p.Met1097Thr |
missense |
ANKFY1 |
4 |
71390 |
5.60303E-5 |
35695 |
0 |
6.25782E-4 |
17-4072589-C-A
|
c.3287-7G>T |
splice_region |
ANKFY1 |
1 |
70416 |
1.42013E-5 |
35208 |
0 |
NA |
17-4074001-C-A
|
c.3286+8G>T |
splice_region |
ANKFY1 |
4 |
80294 |
4.98169E-5 |
40147 |
0 |
6.20226E-5 |
17-4074002-C-T
|
c.3286+7G>A |
splice_region |
ANKFY1 |
1 |
80318 |
1.24505E-5 |
40159 |
0 |
NA |
17-4074010-C-T
|
p.Leu1095Leu |
splice_region+synonymous |
ANKFY1 |
1 |
80444 |
1.2431E-5 |
40222 |
0 |
4.10458E-6 |
17-4074018-G-A
|
p.Arg1093* |
stop_gained |
ANKFY1 |
1 |
80506 |
1.24214E-5 |
40253 |
0 |
NA |
17-4074024-G-A
|
p.Leu1091Leu |
synonymous |
ANKFY1 |
2 |
80620 |
2.48077E-5 |
40310 |
0 |
NA |
17-4074048-A-G
|
p.Tyr1083His |
missense |
ANKFY1 |
7 |
80736 |
8.67023E-5 |
40368 |
0 |
5.61622E-5 |
17-4074058-G-A
|
p.Asn1079Asn |
synonymous |
ANKFY1 |
1 |
80840 |
1.23701E-5 |
40420 |
0 |
NA |
17-4074063-C-T
|
p.Val1078Ile |
missense |
ANKFY1 |
3 |
80850 |
3.71058E-5 |
40425 |
0 |
NA |
17-4074067-C-T
|
p.Gln1076Gln |
synonymous |
ANKFY1 |
1 |
80868 |
1.23658E-5 |
40434 |
0 |
NA |
17-4074085-G-A
|
p.Leu1070Leu |
synonymous |
ANKFY1 |
11 |
80908 |
1.35957E-4 |
40454 |
0 |
0.00100705 |
17-4074088-G-A
|
p.Arg1069Arg |
synonymous |
ANKFY1 |
5 |
80890 |
6.18123E-5 |
40445 |
0 |
5.03525E-4 |
17-4074089-C-T
|
p.Arg1069His |
missense |
ANKFY1 |
14 |
80878 |
1.731E-4 |
40439 |
0 |
1.36337E-4 |
17-4074090-G-A
|
p.Arg1069Cys |
missense |
ANKFY1 |
3 |
80876 |
3.70938E-5 |
40438 |
0 |
NA |
17-4074097-C-T
|
p.Ser1066Ser |
synonymous |
ANKFY1 |
3 |
80892 |
3.70865E-5 |
40446 |
0 |
4.97315E-5 |
17-4074098-G-A
|
p.Ser1066Leu |
missense |
ANKFY1 |
1 |
80894 |
1.23619E-5 |
40447 |
0 |
1.20248E-5 |
17-4074101-C-T
|
p.Arg1065Gln |
missense |
ANKFY1 |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
2.4869E-5 |
17-4074102-G-A
|
p.Arg1065Trp |
missense |
ANKFY1 |
1 |
80890 |
1.23625E-5 |
40445 |
0 |
NA |
17-4074106-G-A
|
p.Ile1063Ile |
synonymous |
ANKFY1 |
4 |
80890 |
4.94499E-5 |
40445 |
0 |
3.31576E-5 |
17-4074108-T-C
|
p.Ile1063Val |
missense |
ANKFY1 |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
4.00837E-6 |
17-4074111-C-T
|
p.Ala1062Thr |
missense |
ANKFY1 |
2 |
80868 |
2.47317E-5 |
40434 |
0 |
3.18634E-5 |
17-4074112-G-A
|
p.Arg1061Arg |
synonymous |
ANKFY1 |
164 |
80860 |
0.0020282 |
40430 |
2 |
0.00554387 |
17-4074113-C-T
|
p.Arg1061His |
missense |
ANKFY1 |
1 |
80852 |
1.23683E-5 |
40426 |
0 |
5.80325E-5 |
17-4074124-G-A
|
p.Ala1057Ala |
synonymous |
ANKFY1 |
40 |
80830 |
4.94866E-4 |
40415 |
0 |
0.00114694 |
17-4074127-G-A
|
p.Asn1056Asn |
synonymous |
ANKFY1 |
3 |
80840 |
3.71103E-5 |
40420 |
0 |
1.60336E-5 |
17-4074138-T-C
|
p.Met1053Val |
missense |
ANKFY1 |
2 |
80806 |
2.47506E-5 |
40403 |
0 |
9.55597E-5 |
17-4075852-C-T
|
p.Thr1046Thr |
splice_region+synonymous |
ANKFY1 |
5 |
80696 |
6.19609E-5 |
40348 |
0 |
3.21445E-5 |
17-4075855-G-A
|
p.Ser1045Ser |
synonymous |
ANKFY1 |
1 |
80736 |
1.2386E-5 |
40368 |
0 |
NA |
17-4075861-G-A
|
p.Asp1043Asp |
synonymous |
ANKFY1 |
12 |
80796 |
1.48522E-4 |
40398 |
0 |
1.16388E-4 |
17-4075869-C-T
|
p.Asp1041Asn |
missense |
ANKFY1 |
1 |
80868 |
1.23658E-5 |
40434 |
0 |
NA |
17-4075871-G-A
|
p.Pro1040Leu |
missense |
ANKFY1 |
2 |
80870 |
2.4731E-5 |
40435 |
0 |
5.06586E-4 |
17-4075875-T-C
|
p.Lys1039Glu |
missense |
ANKFY1 |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
NA |
17-4075951-C-G
|
p.Leu1013Phe |
missense |
ANKFY1 |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
NA |
17-4075957-G-A
|
p.His1011His |
synonymous |
ANKFY1 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
17-4075966-T-G
|
p.Ser1008Ser |
synonymous |
ANKFY1 |
6 |
81022 |
7.4054E-5 |
40511 |
0 |
1.91071E-4 |
17-4075974-C-T
|
p.Gly1006Ser |
missense+splice_region |
ANKFY1 |
21 |
80972 |
2.59349E-4 |
40486 |
0 |
6.639E-5 |
17-4076641-G-A
|
c.3014+8C>T |
splice_region |
ANKFY1 |
5 |
80434 |
6.21628E-5 |
40217 |
0 |
4.15614E-5 |
17-4076642-C-G
|
c.3014+7G>C |
splice_region |
ANKFY1 |
1 |
80468 |
1.24273E-5 |
40234 |
0 |
NA |
17-4076642-C-T
|
c.3014+7G>A |
splice_region |
ANKFY1 |
1 |
80468 |
1.24273E-5 |
40234 |
0 |
0.00125 |
17-4076643-G-A
|
c.3014+6C>T |
splice_region |
ANKFY1 |
2 |
80492 |
2.48472E-5 |
40246 |
0 |
1.66163E-5 |
17-4076646-C-T
|
c.3014+3G>A |
splice_region |
ANKFY1 |
1 |
80582 |
1.24097E-5 |
40291 |
0 |
8.30261E-6 |
17-4076661-G-C
|
p.Ala1001Gly |
missense |
ANKFY1 |
1 |
80774 |
1.23802E-5 |
40387 |
0 |
8.29022E-6 |
17-4076666-G-C
|
p.Ala999Ala |
synonymous |
ANKFY1 |
2 |
80790 |
2.47555E-5 |
40395 |
0 |
1.59317E-4 |
17-4076667-G-C
|
p.Ala999Gly |
missense |
ANKFY1 |
2 |
80798 |
2.47531E-5 |
40399 |
0 |
NA |
17-4076669-G-A
|
p.Asp998Asp |
synonymous |
ANKFY1 |
1265 |
80798 |
0.0156563 |
40399 |
60 |
0.0300115 |
17-4076672-C-T
|
p.Val997Val |
synonymous |
ANKFY1 |
1 |
80844 |
1.23695E-5 |
40422 |
0 |
8.28555E-6 |
17-4076684-T-C
|
p.Thr993Thr |
synonymous |
ANKFY1 |
2 |
80892 |
2.47243E-5 |
40446 |
0 |
3.18593E-5 |
17-4076690-G-A
|
p.Leu991Leu |
synonymous |
ANKFY1 |
4 |
80934 |
4.9423E-5 |
40467 |
0 |
3.1841E-5 |
17-4076712-C-T
|
p.Arg984Gln |
missense |
ANKFY1 |
7 |
80938 |
8.6486E-5 |
40469 |
0 |
3.18573E-5 |
17-4076713-G-A
|
p.Arg984Trp |
missense |
ANKFY1 |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
3.18573E-5 |
17-4076715-C-T
|
p.Gly983Asp |
missense |
ANKFY1 |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
NA |
17-4076716-C-T
|
p.Gly983Ser |
missense |
ANKFY1 |
4 |
80914 |
4.94352E-5 |
40457 |
0 |
6.37892E-4 |
17-4076717-G-A
|
p.His982His |
synonymous |
ANKFY1 |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
1.20212E-5 |
17-4077206-T-C
|
p.Asn974Ser |
missense+splice_region |
ANKFY1 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
3.18512E-5 |
17-4077209-T-C
|
p.Asn973Ser |
missense |
ANKFY1 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
4.02298E-6 |
17-4077225-C-T
|
p.Val968Met |
missense |
ANKFY1 |
3 |
81068 |
3.7006E-5 |
40534 |
0 |
9.55353E-5 |
17-4077240-C-T
|
p.Val963Met |
missense |
ANKFY1 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
9.55231E-5 |
17-4077268-G-A
|
p.Thr953Thr |
synonymous |
ANKFY1 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
4.00712E-6 |
17-4077269-G-C
|
p.Thr953Ser |
missense |
ANKFY1 |
2 |
81076 |
2.46682E-5 |
40538 |
0 |
3.31274E-5 |
17-4077279-C-A
|
p.Asp950Tyr |
missense |
ANKFY1 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
8.28185E-6 |
17-4077291-C-T
|
p.Ala946Thr |
missense |
ANKFY1 |
6 |
81072 |
7.40083E-5 |
40536 |
0 |
3.31285E-5 |
17-4077305-G-T
|
p.Thr941Asn |
missense |
ANKFY1 |
4 |
81062 |
4.93449E-5 |
40531 |
0 |
3.1835E-5 |
17-4077311-C-T
|
p.Arg939His |
missense |
ANKFY1 |
3 |
81056 |
3.70115E-5 |
40528 |
0 |
1.60313E-5 |
17-4077328-G-A
|
p.Asn933Asn |
synonymous |
ANKFY1 |
7 |
81056 |
8.63601E-5 |
40528 |
0 |
3.31846E-5 |
17-4077331-C-T
|
p.Val932Val |
synonymous |
ANKFY1 |
1 |
81056 |
1.23371E-5 |
40528 |
0 |
1.20286E-5 |
17-4077339-C-A
|
p.Ala930Ser |
missense |
ANKFY1 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
4.01072E-6 |
17-4077341-C-T
|
p.Gly929Glu |
missense |
ANKFY1 |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
9.55292E-5 |
17-4077352-CTGTTG-C
|
c.2776-6_2776-2delCAACA |
splice_acceptor |
ANKFY1 |
2 |
80988 |
2.4695E-5 |
40494 |
0 |
NA |
17-4077355-T-C
|
c.2776-4A>G |
splice_region |
ANKFY1 |
1 |
80956 |
1.23524E-5 |
40478 |
0 |
NA |
17-4080449-G-A
|
p.Ala916Val |
missense |
ANKFY1 |
1 |
80664 |
1.23971E-5 |
40332 |
0 |
3.1837E-5 |
17-4080472-G-C
|
p.Thr908Thr |
synonymous |
ANKFY1 |
1 |
80924 |
1.23573E-5 |
40462 |
0 |
5.82092E-5 |
17-4080479-T-C
|
p.Lys906Arg |
missense |
ANKFY1 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
8.30289E-6 |
17-4080514-G-A
|
p.His894His |
synonymous |
ANKFY1 |
17 |
80976 |
2.09939E-4 |
40488 |
0 |
1.58476E-4 |
17-4080514-G-C
|
p.His894Gln |
missense |
ANKFY1 |
1 |
80976 |
1.23493E-5 |
40488 |
0 |
NA |
17-4080553-G-C
|
p.Asn881Lys |
missense |
ANKFY1 |
1 |
80898 |
1.23612E-5 |
40449 |
0 |
NA |
17-4080600-A-C
|
c.2599-3T>G |
splice_region |
ANKFY1 |
1 |
80620 |
1.24039E-5 |
40310 |
0 |
NA |
17-4082157-C-G
|
p.Glu865Gln |
missense |
ANKFY1 |
2 |
81018 |
2.46859E-5 |
40509 |
0 |
NA |
17-4082158-A-T
|
p.Ala864Ala |
synonymous |
ANKFY1 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
NA |
17-4082162-G-C
|
p.Ala863Gly |
missense |
ANKFY1 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
4.00734E-6 |
17-4082166-C-T
|
p.Gly862Arg |
missense |
ANKFY1 |
5 |
81046 |
6.16934E-5 |
40523 |
0 |
5.03525E-4 |
17-4082167-G-A
|
p.Ser861Ser |
synonymous |
ANKFY1 |
7 |
81044 |
8.63728E-5 |
40522 |
0 |
3.18492E-5 |
17-4082179-G-A
|
p.Leu857Leu |
synonymous |
ANKFY1 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
NA |
17-4082190-C-T
|
p.Glu854Lys |
missense |
ANKFY1 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
8.2824E-6 |
17-4082190-C-A
|
p.Glu854* |
stop_gained |
ANKFY1 |
2 |
81078 |
2.46676E-5 |
40539 |
0 |
NA |
17-4082191-G-A
|
p.Ala853Ala |
synonymous |
ANKFY1 |
5 |
81086 |
6.16629E-5 |
40543 |
0 |
9.5584E-5 |
17-4082197-CTTG-C
|
p.Asn850del |
disruptive_inframe_deletion |
ANKFY1 |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
3.18451E-5 |
17-4082204-T-C
|
p.Asn849Ser |
missense |
ANKFY1 |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
1.20201E-5 |
17-4082230-C-T
|
p.Pro840Pro |
synonymous |
ANKFY1 |
3 |
81082 |
3.69996E-5 |
40541 |
0 |
9.55657E-5 |
17-4082252-C-T
|
p.Arg833Gln |
missense |
ANKFY1 |
3 |
81078 |
3.70014E-5 |
40539 |
0 |
3.18532E-5 |
17-4082270-T-G
|
p.Asp827Ala |
missense |
ANKFY1 |
2 |
81060 |
2.46731E-5 |
40530 |
0 |
9.55779E-5 |
17-4082271-C-T
|
p.Asp827Asn |
missense |
ANKFY1 |
4 |
81062 |
4.93449E-5 |
40531 |
0 |
3.18492E-5 |
17-4082275-G-A
|
p.His825His |
synonymous |
ANKFY1 |
1 |
81058 |
1.23368E-5 |
40529 |
0 |
NA |
17-4082290-C-G
|
p.Gln820His |
missense |
ANKFY1 |
1 |
81052 |
1.23378E-5 |
40526 |
0 |
NA |
17-4082298-T-C
|
p.Ile818Val |
missense |
ANKFY1 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
1.20198E-5 |
17-4082305-G-A
|
p.His815His |
synonymous |
ANKFY1 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
5.03525E-4 |
17-4082314-G-A
|
p.Ser812Ser |
synonymous |
ANKFY1 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
1.60276E-5 |
17-4082317-G-A
|
p.Ile811Ile |
synonymous |
ANKFY1 |
2 |
80990 |
2.46944E-5 |
40495 |
0 |
5.03525E-4 |
17-4082325-C-T
|
p.Val809Met |
missense |
ANKFY1 |
1 |
80970 |
1.23503E-5 |
40485 |
0 |
9.55779E-5 |
17-4082326-G-A
|
p.His808His |
synonymous |
ANKFY1 |
1 |
80968 |
1.23506E-5 |
40484 |
0 |
6.36862E-5 |
17-4082335-G-C
|
p.Thr805Thr |
synonymous |
ANKFY1 |
3 |
80924 |
3.70718E-5 |
40462 |
0 |
8.29958E-6 |
17-4082344-T-C
|
p.Glu802Glu |
synonymous |
ANKFY1 |
2 |
80870 |
2.4731E-5 |
40435 |
0 |
NA |
17-4083008-C-T
|
c.2397+8G>A |
splice_region |
ANKFY1 |
111 |
81060 |
0.00136936 |
40530 |
1 |
0.00254874 |
17-4083017-T-C
|
p.Gln799Arg |
missense+splice_region |
ANKFY1 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
8.02401E-6 |
17-4083018-G-C
|
p.Gln799Glu |
missense+splice_region |
ANKFY1 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
4.0113E-6 |
17-4083019-T-C
|
p.Ala798Ala |
synonymous |
ANKFY1 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
17-4083021-C-T
|
p.Ala798Thr |
missense |
ANKFY1 |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
1.60462E-5 |
17-4083022-G-A
|
p.Asn797Asn |
synonymous |
ANKFY1 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
3.18573E-5 |
17-4083027-C-T
|
p.Val796Met |
missense |
ANKFY1 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
1.60386E-5 |
17-4083028-G-A
|
p.Asn795Asn |
synonymous |
ANKFY1 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
4.41002E-5 |
17-4083048-G-A
|
p.Leu789Phe |
missense |
ANKFY1 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
NA |
17-4083051-A-G
|
p.Cys788Arg |
missense |
ANKFY1 |
1 |
81076 |
1.23341E-5 |
40538 |
0 |
1.65653E-5 |
17-4083077-G-A
|
p.Ser779Phe |
missense |
ANKFY1 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
NA |
17-4083079-G-A
|
p.Ala778Ala |
synonymous |
ANKFY1 |
4 |
81078 |
4.93352E-5 |
40539 |
0 |
3.3123E-5 |
17-4083098-G-T
|
p.Thr772Asn |
missense |
ANKFY1 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
1.6561E-5 |
17-4083113-G-T
|
p.Ala767Asp |
missense |
ANKFY1 |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
NA |
17-4083125-CCTT-C
|
p.Glu762del |
disruptive_inframe_deletion |
ANKFY1 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
2.48418E-5 |
17-4083127-T-C
|
p.Glu762Glu |
synonymous |
ANKFY1 |
39 |
81058 |
4.81137E-4 |
40529 |
0 |
4.47161E-4 |
17-4083130-T-C
|
p.Gly761Gly |
synonymous |
ANKFY1 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
17-4083134-T-C
|
p.Asn760Ser |
missense |
ANKFY1 |
5 |
81062 |
6.16812E-5 |
40531 |
0 |
1.32224E-4 |
17-4083141-C-T
|
p.Gly758Ser |
missense |
ANKFY1 |
1 |
81058 |
1.23368E-5 |
40529 |
0 |
NA |
17-4083146-T-C
|
p.Gln756Arg |
missense |
ANKFY1 |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
NA |
17-4083163-G-A
|
p.Asp750Asp |
synonymous |
ANKFY1 |
42 |
81038 |
5.18275E-4 |
40519 |
0 |
3.31301E-4 |
17-4083180-G-C
|
c.2241-8C>G |
splice_region |
ANKFY1 |
1 |
81010 |
1.23442E-5 |
40505 |
0 |
NA |
17-4084322-T-G
|
n.464A>C |
splice_region |
ANKFY1 |
1 |
45042 |
2.22015E-5 |
22521 |
0 |
NA |
17-4084544-C-G
|
c.2240+5G>C |
splice_region |
ANKFY1 |
1 |
80886 |
1.23631E-5 |
40443 |
0 |
8.32875E-6 |
17-4084552-C-T
|
p.Arg746His |
missense |
ANKFY1 |
2 |
80934 |
2.47115E-5 |
40467 |
0 |
0.00125 |
17-4084568-C-T
|
p.Ala741Thr |
missense |
ANKFY1 |
3 |
80984 |
3.70444E-5 |
40492 |
0 |
NA |
17-4084578-G-A
|
p.Asn737Asn |
synonymous |
ANKFY1 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
4.97901E-5 |
17-4084579-T-C
|
p.Asn737Ser |
missense |
ANKFY1 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
8.29738E-6 |
17-4084602-C-T
|
p.Leu729Leu |
synonymous |
ANKFY1 |
1 |
81020 |
1.23426E-5 |
40510 |
0 |
NA |
17-4084606-A-T
|
p.Leu728His |
missense |
ANKFY1 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
NA |
17-4084608-C-T
|
p.Thr727Thr |
synonymous |
ANKFY1 |
164 |
81012 |
0.00202439 |
40506 |
3 |
0.0065036 |
17-4084609-G-A
|
p.Thr727Met |
missense |
ANKFY1 |
6 |
81016 |
7.40594E-5 |
40508 |
0 |
5.03525E-4 |
17-4084622-C-T
|
p.Gly723Arg |
missense |
ANKFY1 |
10 |
81002 |
1.23454E-4 |
40501 |
0 |
6.36902E-5 |
17-4084630-C-G
|
p.Gly720Ala |
missense |
ANKFY1 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
NA |
17-4084632-C-T
|
p.Pro719Pro |
synonymous |
ANKFY1 |
1 |
80984 |
1.23481E-5 |
40492 |
0 |
1.20217E-5 |
17-4084633-G-A
|
p.Pro719Leu |
missense |
ANKFY1 |
4 |
80984 |
4.93925E-5 |
40492 |
0 |
0.00151057 |
17-4084644-T-G
|
p.Thr715Thr |
synonymous |
ANKFY1 |
11 |
80966 |
1.3586E-4 |
40483 |
0 |
1.59195E-4 |
17-4084654-C-G
|
p.Cys712Ser |
missense |
ANKFY1 |
2 |
80944 |
2.47084E-5 |
40472 |
0 |
NA |
17-4084660-T-C
|
p.His710Arg |
missense |
ANKFY1 |
2 |
80894 |
2.47237E-5 |
40447 |
0 |
1.60323E-5 |
17-4084673-GAA-G
|
c.2122-8_2122-7delTT |
splice_region |
ANKFY1 |
1 |
80746 |
1.23845E-5 |
40373 |
0 |
NA |
17-4085473-C-G
|
c.2121+3G>C |
splice_region |
ANKFY1 |
6 |
78400 |
7.65306E-5 |
39200 |
1 |
NA |
17-4085499-G-T
|
p.Leu700Met |
missense |
ANKFY1 |
5 |
79786 |
6.26676E-5 |
39893 |
0 |
3.4623E-5 |
17-4085505-T-G
|
p.Asn698His |
missense |
ANKFY1 |
2 |
79956 |
2.50138E-5 |
39978 |
0 |
8.60274E-6 |
17-4085506-T-C
|
p.Ala697Ala |
synonymous |
ANKFY1 |
1 |
79952 |
1.25075E-5 |
39976 |
0 |
NA |
17-4085511-A-G
|
p.Leu696Leu |
synonymous |
ANKFY1 |
1 |
80174 |
1.24729E-5 |
40087 |
0 |
NA |
17-4085524-C-T
|
p.Pro691Pro |
synonymous |
ANKFY1 |
1 |
80310 |
1.24517E-5 |
40155 |
0 |
9.55353E-5 |
17-4085525-G-A
|
p.Pro691Leu |
missense |
ANKFY1 |
2 |
80338 |
2.48948E-5 |
40169 |
0 |
1.50847E-4 |
17-4085527-G-A
|
p.Pro690Pro |
synonymous |
ANKFY1 |
1 |
80342 |
1.24468E-5 |
40171 |
0 |
2.50916E-5 |
17-4085528-G-A
|
p.Pro690Leu |
missense |
ANKFY1 |
6 |
80370 |
7.46547E-5 |
40185 |
0 |
0.00151057 |
17-4085553-A-C
|
p.Ser682Ala |
missense |
ANKFY1 |
4 |
80682 |
4.95774E-5 |
40341 |
0 |
3.1841E-5 |
17-4085555-A-G
|
p.Met681Thr |
missense |
ANKFY1 |
1 |
80688 |
1.23934E-5 |
40344 |
0 |
NA |
17-4085557-G-A
|
p.Asp680Asp |
synonymous |
ANKFY1 |
1 |
80696 |
1.23922E-5 |
40348 |
0 |
NA |
17-4085567-C-T
|
p.Arg677Gln |
missense |
ANKFY1 |
38 |
80734 |
4.70681E-4 |
40367 |
0 |
5.03525E-4 |
17-4085593-T-C
|
p.Pro668Pro |
synonymous |
ANKFY1 |
2 |
80628 |
2.48053E-5 |
40314 |
0 |
2.49302E-5 |
17-4085607-T-G
|
p.Arg664Arg |
synonymous |
ANKFY1 |
3 |
80574 |
3.72329E-5 |
40287 |
0 |
NA |
17-4085632-C-A
|
p.Gly655Gly |
synonymous |
ANKFY1 |
4 |
80168 |
4.98952E-5 |
40084 |
0 |
2.94486E-5 |
17-4085638-C-A
|
p.Gln653His |
missense |
ANKFY1 |
14 |
80098 |
1.74786E-4 |
40049 |
0 |
2.22887E-4 |
17-4086689-C-T
|
c.1952+4G>A |
splice_region |
ANKFY1 |
9 |
80990 |
1.11125E-4 |
40495 |
0 |
6.36821E-5 |
17-4086730-G-C
|
p.Leu639Val |
missense |
ANKFY1 |
1 |
80942 |
1.23545E-5 |
40471 |
0 |
NA |
17-4086731-T-C
|
p.Ala638Ala |
synonymous |
ANKFY1 |
2 |
80938 |
2.47103E-5 |
40469 |
0 |
NA |
17-4086733-C-T
|
p.Ala638Thr |
missense |
ANKFY1 |
1 |
80926 |
1.2357E-5 |
40463 |
0 |
5.21184E-5 |
17-4086734-G-A
|
p.Ser637Ser |
synonymous |
ANKFY1 |
1 |
80914 |
1.23588E-5 |
40457 |
0 |
3.18552E-5 |
17-4086763-T-C
|
p.Met628Val |
missense |
ANKFY1 |
1 |
80870 |
1.23655E-5 |
40435 |
0 |
5.03525E-4 |
17-4086774-G-A
|
p.Thr624Met |
missense |
ANKFY1 |
3 |
80776 |
3.71397E-5 |
40388 |
0 |
2.48653E-5 |
17-4086784-C-T
|
p.Asp621Asn |
missense |
ANKFY1 |
1 |
80706 |
1.23907E-5 |
40353 |
0 |
5.03525E-4 |
17-4086785-C-T
|
p.Ser620Ser |
synonymous |
ANKFY1 |
13 |
80704 |
1.61082E-4 |
40352 |
0 |
4.14449E-5 |
17-4086786-G-A
|
p.Ser620Leu |
missense |
ANKFY1 |
1 |
80668 |
1.23965E-5 |
40334 |
0 |
8.01693E-6 |
17-4086789-A-G
|
p.Met619Thr |
missense |
ANKFY1 |
1 |
80678 |
1.2395E-5 |
40339 |
0 |
8.28885E-6 |
17-4086790-T-C
|
p.Met619Val |
missense |
ANKFY1 |
3 |
80668 |
3.71895E-5 |
40334 |
0 |
4.00808E-6 |
17-4086796-CATT-C
|
p.Asn616del |
conservative_inframe_deletion |
ANKFY1 |
1 |
80646 |
1.23999E-5 |
40323 |
0 |
8.29132E-6 |
17-4086798-T-A
|
p.Asn616Ile |
missense |
ANKFY1 |
1 |
80624 |
1.24033E-5 |
40312 |
0 |
NA |
17-4086805-C-T
|
p.Ala614Thr |
missense |
ANKFY1 |
4 |
80506 |
4.96857E-5 |
40253 |
0 |
0.0020141 |
17-4086809-T-G
|
p.Gly612Gly |
synonymous |
ANKFY1 |
2 |
80408 |
2.48731E-5 |
40204 |
0 |
NA |
17-4086827-G-C
|
p.Ala606Ala |
synonymous |
ANKFY1 |
1 |
80162 |
1.24747E-5 |
40081 |
0 |
NA |
17-4086829-C-T
|
p.Ala606Thr |
missense |
ANKFY1 |
3 |
80108 |
3.74494E-5 |
40054 |
0 |
8.02929E-6 |
17-4086833-G-A
|
p.Ile604Ile |
synonymous |
ANKFY1 |
2 |
80028 |
2.49913E-5 |
40014 |
0 |
3.32353E-5 |
17-4086836-C-T
|
p.Thr603Thr |
synonymous |
ANKFY1 |
80 |
79948 |
0.00100065 |
39974 |
2 |
0.00564617 |
17-4086838-T-C
|
p.Thr603Ala |
missense |
ANKFY1 |
1 |
79856 |
1.25225E-5 |
39928 |
0 |
1.41306E-4 |
17-4086843-A-G
|
p.Met601Thr |
missense |
ANKFY1 |
1 |
79792 |
1.25326E-5 |
39896 |
0 |
1.20618E-5 |
17-4086846-C-CCAGTCCATAATGCCAGGCCCAGCACAGT
|
c.1799-1_1799insACTGTGCTGGGCCTGGCATTATGGACTG |
splice_acceptor |
ANKFY1 |
1 |
79690 |
1.25486E-5 |
39845 |
0 |
NA |
17-4087101-C-A
|
c.1798+6G>T |
splice_region |
ANKFY1 |
1 |
80882 |
1.23637E-5 |
40441 |
0 |
NA |
17-4087102-C-T
|
c.1798+5G>A |
splice_region |
ANKFY1 |
1 |
80886 |
1.23631E-5 |
40443 |
0 |
8.28981E-6 |
17-4087113-A-G
|
p.Trp598Arg |
missense |
ANKFY1 |
2 |
80920 |
2.47158E-5 |
40460 |
0 |
5.41401E-4 |
17-4087116-A-G
|
p.Leu597Leu |
synonymous |
ANKFY1 |
4 |
80914 |
4.94352E-5 |
40457 |
0 |
8.28363E-6 |
17-4087130-A-G
|
p.Val592Ala |
missense |
ANKFY1 |
2 |
80940 |
2.47097E-5 |
40470 |
0 |
5.79739E-5 |
17-4087135-C-G
|
p.Gln590His |
missense |
ANKFY1 |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
1.202E-5 |
17-4087142-C-T
|
p.Arg588Gln |
missense |
ANKFY1 |
2 |
80978 |
2.46981E-5 |
40489 |
0 |
3.18431E-5 |
17-4087144-G-A
|
p.Ser587Ser |
synonymous |
ANKFY1 |
4 |
80984 |
4.93925E-5 |
40492 |
0 |
8.0134E-6 |
17-4087164-C-T
|
p.Asp581Asn |
missense |
ANKFY1 |
1 |
80952 |
1.2353E-5 |
40476 |
0 |
NA |
17-4087166-G-A
|
p.Pro580Leu |
missense |
ANKFY1 |
1 |
80938 |
1.23551E-5 |
40469 |
0 |
2.00335E-5 |
17-4087187-G-A
|
p.Thr573Ile |
missense |
ANKFY1 |
4 |
80868 |
4.94633E-5 |
40434 |
0 |
5.79643E-5 |
17-4087193-T-C
|
p.His571Arg |
missense |
ANKFY1 |
6 |
80808 |
7.42501E-5 |
40404 |
0 |
6.36902E-5 |
17-4087197-G-A
|
p.Leu570Phe |
missense |
ANKFY1 |
1 |
80784 |
1.23787E-5 |
40392 |
0 |
NA |
17-4087202-T-C
|
p.Asn568Ser |
missense |
ANKFY1 |
4 |
80708 |
4.95614E-5 |
40354 |
0 |
6.37064E-5 |
17-4087207-T-TTTCTGCTCCAGGATGACAGACACC
|
c.1700-3_1700-2insGGTGTCTGTCATCCTGGAGCAGAA |
splice_region |
ANKFY1 |
1 |
80626 |
1.24029E-5 |
40313 |
0 |
NA |
17-4087207-T-TTTCTGCTCCAGGATGACAGAC
|
c.1700-3_1700-2insGTCTGTCATCCTGGAGCAGAA |
splice_region |
ANKFY1 |
2 |
80626 |
2.48059E-5 |
40313 |
1 |
NA |
17-4088107-A-G
|
c.1699+6T>C |
splice_region |
ANKFY1 |
1 |
80904 |
1.23603E-5 |
40452 |
0 |
3.31796E-5 |
17-4088129-G-A
|
p.Val561Val |
synonymous |
ANKFY1 |
2 |
80992 |
2.46938E-5 |
40496 |
0 |
NA |
17-4088130-A-G
|
p.Val561Ala |
missense |
ANKFY1 |
1 |
80984 |
1.23481E-5 |
40492 |
0 |
4.01765E-6 |
17-4088144-C-T
|
p.Pro556Pro |
synonymous |
ANKFY1 |
2 |
81030 |
2.46822E-5 |
40515 |
0 |
6.37024E-5 |
17-4088145-G-A
|
p.Pro556Leu |
missense |
ANKFY1 |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
NA |
17-4088147-A-C
|
p.His555Gln |
missense |
ANKFY1 |
44 |
81036 |
5.42969E-4 |
40518 |
0 |
6.69003E-4 |
17-4088154-T-C
|
p.Tyr553Cys |
missense |
ANKFY1 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
1.65678E-5 |
17-4088158-C-T
|
p.Ala552Thr |
missense |
ANKFY1 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
6.36943E-5 |
17-4088159-G-A
|
n.430C>T |
splice_region |
ANKFY1 |
2 |
81036 |
2.46804E-5 |
40518 |
0 |
2.48505E-5 |
17-4088162-C-T
|
p.Ala550Ala |
synonymous |
ANKFY1 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
1.65664E-5 |
17-4088191-C-T
|
p.Val541Ile |
missense |
ANKFY1 |
2 |
81032 |
2.46816E-5 |
40516 |
0 |
4.00946E-6 |
17-4088194-T-C
|
p.Ser540Gly |
missense |
ANKFY1 |
5 |
81028 |
6.17071E-5 |
40514 |
0 |
5.03525E-4 |
17-4088208-G-C
|
p.Thr535Ser |
missense |
ANKFY1 |
6 |
81006 |
7.40686E-5 |
40503 |
0 |
6.25E-4 |
17-4088210-C-G
|
p.Leu534Leu |
synonymous |
ANKFY1 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
NA |
17-4088216-T-C
|
p.Ala532Ala |
synonymous |
ANKFY1 |
1 |
80984 |
1.23481E-5 |
40492 |
0 |
NA |
17-4088218-C-T
|
p.Ala532Thr |
missense |
ANKFY1 |
2 |
80974 |
2.46993E-5 |
40487 |
0 |
2.00489E-5 |
17-4088227-T-C
|
p.Lys529Glu |
missense |
ANKFY1 |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
NA |
17-4088242-C-T
|
p.Ala524Thr |
missense |
ANKFY1 |
4 |
80944 |
4.94169E-5 |
40472 |
0 |
4.14134E-5 |
17-4088249-C-T
|
p.Thr521Thr |
synonymous |
ANKFY1 |
5 |
80938 |
6.17757E-5 |
40469 |
0 |
3.18492E-5 |
17-4088250-G-A
|
p.Thr521Met |
missense |
ANKFY1 |
6 |
80930 |
7.41381E-5 |
40465 |
0 |
1.49091E-4 |
17-4088260-T-C
|
p.Asn518Asp |
missense |
ANKFY1 |
2 |
80920 |
2.47158E-5 |
40460 |
0 |
4.00962E-6 |
17-4088263-G-C
|
p.Pro517Ala |
missense |
ANKFY1 |
1 |
80900 |
1.23609E-5 |
40450 |
0 |
NA |
17-4088270-G-A
|
p.Gly514Gly |
synonymous |
ANKFY1 |
1 |
80880 |
1.2364E-5 |
40440 |
0 |
5.03525E-4 |
17-4088282-G-A
|
p.Leu510Leu |
synonymous |
ANKFY1 |
1 |
80840 |
1.23701E-5 |
40420 |
0 |
8.28391E-6 |
17-4088285-C-G
|
p.Glu509Asp |
missense |
ANKFY1 |
3 |
80850 |
3.71058E-5 |
40425 |
0 |
NA |
17-4088291-C-T
|
p.Thr507Thr |
synonymous |
ANKFY1 |
67330 |
78830 |
0.854116 |
39415 |
29356 |
0.870625 |
17-4088310-T-C
|
p.His501Arg |
missense |
ANKFY1 |
2 |
80758 |
2.47653E-5 |
40379 |
0 |
4.01655E-6 |
17-4088312-C-T
|
p.Arg500Arg |
synonymous |
ANKFY1 |
3 |
80744 |
3.71545E-5 |
40372 |
0 |
3.18431E-5 |
17-4088313-C-T
|
p.Arg500Gln |
missense |
ANKFY1 |
4 |
80736 |
4.95442E-5 |
40368 |
0 |
3.61704E-5 |
17-4088314-G-A
|
p.Arg500Trp |
missense |
ANKFY1 |
1 |
80716 |
1.23891E-5 |
40358 |
0 |
NA |
17-4088318-C-T
|
c.-151G>A |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
5 |
80672 |
6.19794E-5 |
40336 |
0 |
1.27372E-4 |
17-4088346-A-G
|
c.1471-5T>C |
splice_region |
ANKFY1 |
1 |
80130 |
1.24797E-5 |
40065 |
0 |
NA |
17-4090183-C-A
|
c.-175+6G>T |
splice_region |
ANKFY1 |
2 |
22140 |
9.03342E-5 |
11070 |
0 |
1.59175E-4 |
17-4090308-T-C
|
c.-294A>G |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
105 |
22216 |
0.00472632 |
11108 |
0 |
0.00379222 |
17-4090348-C-T
|
c.-334G>A |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
39 |
22362 |
0.00174403 |
11181 |
0 |
0.00328151 |
17-4090362-G-A
|
c.-348C>T |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
1 |
22174 |
4.50979E-5 |
11087 |
0 |
9.56389E-5 |
17-4090391-G-A
|
c.-377C>T |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
7 |
21092 |
3.31879E-4 |
10546 |
0 |
1.59591E-4 |
17-4092667-TCA-T
|
c.1470+8_1470+9delTG |
splice_region |
ANKFY1 |
1 |
79574 |
1.25669E-5 |
39787 |
0 |
5.32464E-6 |
17-4092688-T-C
|
p.Arg487Gly |
missense |
ANKFY1 |
1 |
79698 |
1.25474E-5 |
39849 |
0 |
NA |
17-4092697-C-CA
|
p.Val484fs |
frameshift |
ANKFY1 |
1 |
79718 |
1.25442E-5 |
39859 |
0 |
NA |
17-4092700-G-A
|
p.His483Tyr |
missense |
ANKFY1 |
2 |
79736 |
2.50828E-5 |
39868 |
0 |
9.48479E-6 |
17-4092703-C-T
|
p.Ala482Thr |
missense |
ANKFY1 |
2 |
79734 |
2.50834E-5 |
39867 |
0 |
NA |
17-4092704-A-G
|
p.Gly481Gly |
synonymous |
ANKFY1 |
2 |
79700 |
2.50941E-5 |
39850 |
0 |
3.1841E-5 |
17-4092707-G-A
|
p.Asn480Asn |
synonymous |
ANKFY1 |
3 |
79754 |
3.76157E-5 |
39877 |
0 |
NA |
17-4092708-T-C
|
p.Asn480Ser |
missense |
ANKFY1 |
9 |
79748 |
1.12855E-4 |
39874 |
0 |
4.2964E-4 |
17-4092710-G-T
|
p.Thr479Thr |
synonymous |
ANKFY1 |
2 |
79772 |
2.50715E-5 |
39886 |
0 |
4.62989E-6 |
17-4092741-C-T
|
p.Gly469Glu |
missense |
ANKFY1 |
1 |
79698 |
1.25474E-5 |
39849 |
0 |
2.48509E-5 |
17-4092744-G-A
|
p.Ala468Val |
missense |
ANKFY1 |
1 |
79678 |
1.25505E-5 |
39839 |
0 |
NA |
17-4092748-C-G
|
p.Gly467Arg |
missense |
ANKFY1 |
3 |
79692 |
3.76449E-5 |
39846 |
0 |
9.57992E-6 |
17-4092756-C-T
|
p.Arg464Gln |
missense |
ANKFY1 |
2 |
79588 |
2.51294E-5 |
39794 |
0 |
6.3678E-5 |
17-4092757-G-A
|
p.Arg464Trp |
missense |
ANKFY1 |
2 |
79552 |
2.51408E-5 |
39776 |
0 |
2.6266E-5 |
17-4092772-T-C
|
p.Asn459Asp |
missense+splice_region |
ANKFY1 |
1 |
79272 |
1.26148E-5 |
39636 |
0 |
NA |
17-4097774-TGGTCAAG-T
|
c.*400_*406delCTTGACC |
splice_region |
ANKFY1 |
11 |
2544 |
0.0043239 |
1272 |
0 |
0.00113676 |
17-4098194-T-C
|
p.Lys484Arg |
missense |
ANKFY1 |
1 |
79962 |
1.25059E-5 |
39981 |
0 |
NA |
17-4098205-G-C
|
p.Cys480Trp |
missense |
ANKFY1 |
3 |
80240 |
3.73878E-5 |
40120 |
0 |
NA |
17-4098205-G-A
|
p.Cys480Cys |
synonymous |
ANKFY1 |
1 |
80240 |
1.24626E-5 |
40120 |
0 |
NA |
17-4098212-C-G
|
p.Cys478Ser |
missense |
ANKFY1 |
1 |
80460 |
1.24285E-5 |
40230 |
0 |
NA |
17-4098228-G-A
|
p.Arg473Cys |
missense |
ANKFY1 |
1 |
80642 |
1.24005E-5 |
40321 |
0 |
0.00100806 |
17-4098244-G-A
|
p.Asp467Asp |
synonymous |
ANKFY1 |
2 |
80804 |
2.47513E-5 |
40402 |
0 |
6.25E-4 |
17-4098246-C-T
|
p.Asp467Asn |
missense |
ANKFY1 |
4 |
80816 |
4.94951E-5 |
40408 |
0 |
8.14214E-5 |
17-4098247-G-A
|
p.Gly466Gly |
synonymous |
ANKFY1 |
7 |
80828 |
8.66036E-5 |
40414 |
0 |
1.59185E-4 |
17-4098254-C-T
|
p.Arg464Gln |
missense |
ANKFY1 |
8 |
80850 |
9.89487E-5 |
40425 |
0 |
7.7228E-5 |
17-4098259-G-T
|
p.Ala462Ala |
synonymous |
ANKFY1 |
1 |
80884 |
1.23634E-5 |
40442 |
0 |
NA |
17-4098263-C-G
|
p.Arg461Pro |
missense |
ANKFY1 |
2 |
80902 |
2.47213E-5 |
40451 |
0 |
1.27332E-4 |
17-4098263-C-A
|
p.Arg461Leu |
missense |
ANKFY1 |
1 |
80902 |
1.23606E-5 |
40451 |
0 |
4.01162E-6 |
17-4098264-G-A
|
p.Arg461Cys |
missense |
ANKFY1 |
7 |
80904 |
8.65223E-5 |
40452 |
0 |
1.59185E-4 |
17-4098277-C-A
|
p.Ala456Ala |
synonymous |
ANKFY1 |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
NA |
17-4098277-C-T
|
p.Ala456Ala |
synonymous |
ANKFY1 |
2 |
80958 |
2.47042E-5 |
40479 |
0 |
3.1841E-5 |
17-4098278-G-A
|
p.Ala456Val |
missense |
ANKFY1 |
2 |
80962 |
2.47029E-5 |
40481 |
0 |
3.1839E-5 |
17-4098279-C-T
|
p.Ala456Thr |
missense |
ANKFY1 |
1 |
80960 |
1.23518E-5 |
40480 |
0 |
NA |
17-4098280-C-T
|
p.Thr455Thr |
synonymous |
ANKFY1 |
2 |
80968 |
2.47011E-5 |
40484 |
0 |
9.99334E-5 |
17-4098281-G-A
|
p.Thr455Met |
missense |
ANKFY1 |
5 |
80976 |
6.17467E-5 |
40488 |
0 |
3.60791E-5 |
17-4098282-T-C
|
p.Thr455Ala |
missense |
ANKFY1 |
4 |
80982 |
4.93937E-5 |
40491 |
0 |
3.20685E-5 |
17-4098307-G-A
|
p.Arg446Arg |
synonymous |
ANKFY1 |
2 |
81016 |
2.46865E-5 |
40508 |
0 |
6.36902E-5 |
17-4098308-C-T
|
p.Arg446His |
missense |
ANKFY1 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
9.55231E-5 |
17-4098309-G-A
|
p.Arg446Cys |
missense |
ANKFY1 |
3 |
81018 |
3.70288E-5 |
40509 |
0 |
1.27356E-4 |
17-4098325-T-G
|
p.Ala440Ala |
synonymous |
ANKFY1 |
9 |
81056 |
1.11034E-4 |
40528 |
0 |
1.6589E-5 |
17-4098340-A-T
|
p.Asp435Glu |
missense |
ANKFY1 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
17-4098347-G-A
|
p.Ser433Leu |
missense |
ANKFY1 |
2 |
81062 |
2.46725E-5 |
40531 |
0 |
1.2021E-5 |
17-4098348-A-C
|
p.Ser433Ala |
missense |
ANKFY1 |
5 |
81062 |
6.16812E-5 |
40531 |
0 |
8.2894E-6 |
17-4098363-C-T
|
p.Val428Met |
missense |
ANKFY1 |
3 |
81054 |
3.70124E-5 |
40527 |
0 |
6.37105E-5 |
17-4098364-G-A
|
p.Pro427Pro |
synonymous |
ANKFY1 |
6 |
81056 |
7.40229E-5 |
40528 |
0 |
1.59276E-4 |
17-4098375-C-T
|
p.Glu424Lys |
missense |
ANKFY1 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
NA |
17-4098382-G-T
|
p.Asn421Lys |
missense |
ANKFY1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
17-4098390-A-G
|
p.Ser419Pro |
missense |
ANKFY1 |
1 |
81038 |
1.23399E-5 |
40519 |
0 |
4.00689E-6 |
17-4098392-T-G
|
p.Gln418Pro |
missense |
ANKFY1 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
NA |
17-4098396-C-A
|
p.Asp417Tyr |
missense |
ANKFY1 |
2 |
81036 |
2.46804E-5 |
40518 |
0 |
8.28789E-6 |
17-4098405-C-T
|
p.Val414Met |
missense |
ANKFY1 |
7 |
81014 |
8.64048E-5 |
40507 |
0 |
6.37064E-5 |
17-4098419-A-G
|
p.Val409Ala |
missense |
ANKFY1 |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
3.18512E-5 |
17-4098448-G-A
|
p.His399His |
synonymous |
ANKFY1 |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
1.24995E-4 |
17-4098466-A-G
|
p.Asp393Asp |
synonymous |
ANKFY1 |
1 |
80870 |
1.23655E-5 |
40435 |
0 |
8.56355E-6 |
17-4098466-A-C
|
p.Asp393Glu |
missense |
ANKFY1 |
2 |
80870 |
2.4731E-5 |
40435 |
0 |
1.71271E-5 |
17-4098694-G-A
|
c.1172+4C>T |
splice_region |
ANKFY1 |
16 |
81056 |
1.97394E-4 |
40528 |
0 |
7.01173E-4 |
17-4098709-C-T
|
p.Leu387Leu |
synonymous |
ANKFY1 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
3.18512E-5 |
17-4098712-C-T
|
p.Leu386Leu |
synonymous |
ANKFY1 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
NA |
17-4098727-A-G
|
p.Tyr381Tyr |
synonymous |
ANKFY1 |
8 |
81072 |
9.86777E-5 |
40536 |
0 |
1.91156E-4 |
17-4098738-C-T
|
p.Gly378Arg |
missense |
ANKFY1 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
3.18695E-5 |
17-4098745-G-A
|
p.Ile375Ile |
synonymous |
ANKFY1 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
3.18613E-5 |
17-4098747-T-C
|
p.Ile375Val |
missense |
ANKFY1 |
314 |
81028 |
0.0038752 |
40514 |
1 |
0.00414356 |
17-4098747-T-G
|
p.Ile375Leu |
missense |
ANKFY1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
3.18735E-5 |
17-4098748-G-A
|
p.Ser374Ser |
synonymous |
ANKFY1 |
43 |
81032 |
5.30655E-4 |
40516 |
0 |
0.00128624 |
17-4098754-A-G
|
p.His372His |
synonymous |
ANKFY1 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
3.60643E-5 |
17-4098765-T-TCCTCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCAG
|
p.Thr369fs |
frameshift |
ANKFY1 |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
NA |
17-4098768-T-TCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCA
|
c.1104-3_1104-2insTGGTGCCAACCCCAACATGCAGGACAGCAAGGGG |
splice_region |
ANKFY1 |
1 |
80988 |
1.23475E-5 |
40494 |
0 |
NA |
17-4098771-G-A
|
c.1104-5C>T |
splice_region |
ANKFY1 |
13 |
80930 |
1.60633E-4 |
40465 |
0 |
2.86935E-4 |
17-4100669-T-A
|
p.Arg368Trp |
missense+splice_region |
ANKFY1 |
2 |
80584 |
2.48188E-5 |
40292 |
0 |
8.28775E-6 |
17-4100693-G-A
|
p.Pro360Ser |
missense |
ANKFY1 |
1 |
80954 |
1.23527E-5 |
40477 |
0 |
NA |
17-4100717-C-T
|
p.Ala352Thr |
missense |
ANKFY1 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
4.00692E-6 |
17-4100730-C-T
|
p.Ala347Ala |
synonymous |
ANKFY1 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
1.20209E-5 |
17-4100731-G-A
|
p.Ala347Val |
missense |
ANKFY1 |
2 |
81024 |
2.4684E-5 |
40512 |
0 |
4.00708E-6 |
17-4100743-A-T
|
p.Met343Lys |
missense |
ANKFY1 |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
8.01359E-6 |
17-4100743-A-G
|
p.Met343Thr |
missense |
ANKFY1 |
2 |
81046 |
2.46773E-5 |
40523 |
0 |
1.20204E-5 |
17-4100749-T-C
|
p.Asp341Gly |
missense |
ANKFY1 |
2 |
81054 |
2.46749E-5 |
40527 |
0 |
8.01372E-6 |
17-4100771-T-G
|
p.Ser334Arg |
missense |
ANKFY1 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
NA |
17-4100775-C-T
|
p.Leu332Leu |
synonymous |
ANKFY1 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
17-4100795-G-C
|
p.Pro326Ala |
missense |
ANKFY1 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
17-4100801-C-T
|
p.Glu324Lys |
missense |
ANKFY1 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
1.60278E-5 |
17-4100818-G-A
|
p.Ala318Val |
missense |
ANKFY1 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
NA |
17-4100823-G-A
|
p.Asn316Asn |
synonymous |
ANKFY1 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
1.66055E-5 |
17-4100824-T-C
|
p.Asn316Ser |
missense |
ANKFY1 |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
3.32071E-5 |
17-4100824-T-A
|
p.Asn316Ile |
missense |
ANKFY1 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
NA |
17-4100826-G-C
|
p.Val315Val |
synonymous |
ANKFY1 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
17-4100846-T-C
|
p.Ile309Val |
missense |
ANKFY1 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
17-4100858-C-G
|
p.Ala305Pro |
missense |
ANKFY1 |
3 |
81016 |
3.70297E-5 |
40508 |
0 |
6.36943E-5 |
17-4100869-T-C
|
p.Asp301Gly |
missense |
ANKFY1 |
1 |
80990 |
1.23472E-5 |
40495 |
0 |
NA |
17-4100869-TCTC-T
|
p.Gly300del |
disruptive_inframe_deletion |
ANKFY1 |
1 |
80990 |
1.23472E-5 |
40495 |
0 |
4.01771E-6 |
17-4100871-T-G
|
p.Gly300Gly |
splice_region+synonymous |
ANKFY1 |
3 |
80974 |
3.70489E-5 |
40487 |
0 |
NA |
17-4100871-T-C
|
p.Gly300Gly |
splice_region+synonymous |
ANKFY1 |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
NA |
17-4109638-C-A
|
p.Leu292Phe |
missense |
ANKFY1 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
NA |
17-4109656-G-A
|
p.Asp286Asp |
synonymous |
ANKFY1 |
2 |
81094 |
2.46627E-5 |
40547 |
0 |
NA |
17-4109659-C-T
|
p.Val285Val |
synonymous |
ANKFY1 |
4 |
81096 |
4.93243E-5 |
40548 |
0 |
9.5511E-5 |
17-4109665-G-A
|
p.Asp283Asp |
synonymous |
ANKFY1 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
17-4109686-A-G
|
p.Val276Val |
synonymous |
ANKFY1 |
11 |
81096 |
1.35642E-4 |
40548 |
0 |
0.00100705 |
17-4109694-T-C
|
p.Thr274Ala |
missense |
ANKFY1 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
17-4109714-C-T
|
p.Arg267Gln |
missense |
ANKFY1 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
1.65637E-5 |
17-4109718-G-T
|
p.Arg266Arg |
synonymous |
ANKFY1 |
44 |
81092 |
5.42594E-4 |
40546 |
0 |
5.03525E-4 |
17-4109722-G-A
|
p.Leu264Leu |
synonymous |
ANKFY1 |
4608 |
81038 |
0.0568622 |
40519 |
417 |
0.0943474 |
17-4109724-G-A
|
p.Leu264Phe |
missense |
ANKFY1 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
17-4109728-T-G
|
p.Leu262Leu |
synonymous |
ANKFY1 |
6 |
81090 |
7.39919E-5 |
40545 |
0 |
6.36902E-5 |
17-4109737-T-C
|
p.Ala259Ala |
synonymous |
ANKFY1 |
6 |
81092 |
7.399E-5 |
40546 |
0 |
0.003125 |
17-4109742-G-A
|
p.Leu258Leu |
synonymous |
ANKFY1 |
3 |
81096 |
3.69932E-5 |
40548 |
0 |
8.01417E-6 |
17-4109748-C-T
|
p.Gly256Arg |
missense |
ANKFY1 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
5.03525E-4 |
17-4109749-G-A
|
p.Asn255Asn |
synonymous |
ANKFY1 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
1.65689E-5 |
17-4109754-G-A
|
p.His254Tyr |
missense |
ANKFY1 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
17-4109758-C-T
|
p.Ala252Ala |
synonymous |
ANKFY1 |
3 |
81072 |
3.70041E-5 |
40536 |
0 |
8.28528E-6 |
17-4109759-G-A
|
p.Ala252Val |
missense |
ANKFY1 |
2 |
81072 |
2.46694E-5 |
40536 |
0 |
9.55657E-5 |
17-4109761-T-A
|
p.Glu251Asp |
missense |
ANKFY1 |
15 |
81074 |
1.85016E-4 |
40537 |
0 |
8.0179E-5 |
17-4109765-T-C
|
p.Asn250Ser |
missense |
ANKFY1 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
8.28775E-6 |
17-4109776-A-G
|
p.Pro246Pro |
synonymous |
ANKFY1 |
7 |
81058 |
8.63579E-5 |
40529 |
0 |
8.02021E-5 |
17-4109778-G-A
|
p.Pro246Ser |
missense |
ANKFY1 |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
NA |
17-4109784-A-G
|
c.733-3T>C |
splice_region |
ANKFY1 |
9 |
81030 |
1.1107E-4 |
40515 |
0 |
9.12545E-5 |
17-4109787-C-T
|
c.733-6G>A |
splice_region |
ANKFY1 |
2 |
81026 |
2.46834E-5 |
40513 |
0 |
1.20555E-5 |
17-4111244-A-G
|
p.Ile239Thr |
missense |
ANKFY1 |
1 |
80446 |
1.24307E-5 |
40223 |
0 |
NA |
17-4111246-C-A
|
p.Leu238Leu |
synonymous |
ANKFY1 |
1 |
80432 |
1.24329E-5 |
40216 |
0 |
NA |
17-4111252-C-T
|
p.Leu236Leu |
synonymous |
ANKFY1 |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
4.149E-6 |
17-4111263-C-A
|
p.Val233Leu |
missense |
ANKFY1 |
1 |
80768 |
1.23811E-5 |
40384 |
0 |
NA |
17-4111264-G-A
|
p.Asp232Asp |
synonymous |
ANKFY1 |
3 |
80776 |
3.71397E-5 |
40388 |
0 |
1.66681E-5 |
17-4111274-T-A
|
p.Glu229Val |
missense |
ANKFY1 |
1 |
80814 |
1.23741E-5 |
40407 |
0 |
NA |
17-4111298-G-A
|
p.Pro221Leu |
missense |
ANKFY1 |
4 |
80840 |
4.94805E-5 |
40420 |
0 |
8.10991E-6 |
17-4111300-G-A
|
p.Tyr220Tyr |
synonymous |
ANKFY1 |
1 |
80842 |
1.23698E-5 |
40421 |
0 |
4.05321E-6 |
17-4111325-T-C
|
p.Lys212Arg |
missense |
ANKFY1 |
13 |
80800 |
1.60891E-4 |
40400 |
0 |
2.54728E-4 |
17-4111327-G-A
|
p.Tyr211Tyr |
synonymous |
ANKFY1 |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
8.30427E-6 |
17-4111332-A-G
|
p.Leu210Leu |
synonymous |
ANKFY1 |
3 |
80740 |
3.71563E-5 |
40370 |
0 |
3.32364E-5 |
17-4111373-T-C
|
p.Asp196Gly |
missense |
ANKFY1 |
1 |
80442 |
1.24313E-5 |
40221 |
0 |
NA |
17-4113112-C-T
|
c.582+7G>A |
splice_region |
ANKFY1 |
20 |
80998 |
2.4692E-4 |
40499 |
0 |
0.00101455 |
17-4113146-G-A
|
p.Tyr185Tyr |
synonymous |
ANKFY1 |
3 |
81052 |
3.70133E-5 |
40526 |
0 |
1.2738E-4 |
17-4113150-T-C
|
p.Asn184Ser |
missense |
ANKFY1 |
15 |
81052 |
1.85066E-4 |
40526 |
0 |
3.50318E-4 |
17-4113158-T-C
|
p.Thr181Thr |
synonymous |
ANKFY1 |
6 |
81044 |
7.40339E-5 |
40522 |
0 |
NA |
17-4113182-C-T
|
p.Thr173Thr |
synonymous |
ANKFY1 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
8.28363E-6 |
17-4113191-G-A
|
p.Phe170Phe |
synonymous |
ANKFY1 |
2 |
81010 |
2.46883E-5 |
40505 |
0 |
8.28528E-6 |
17-4113196-G-A
|
p.Arg169Cys |
missense |
ANKFY1 |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
2.00428E-5 |
17-4113204-T-C
|
p.Asn166Ser |
missense |
ANKFY1 |
5 |
80986 |
6.17391E-5 |
40493 |
0 |
8.2894E-6 |
17-4113214-T-A
|
p.Asn163Tyr |
missense |
ANKFY1 |
1 |
80940 |
1.23548E-5 |
40470 |
0 |
NA |
17-4113217-C-T
|
p.Val162Met |
missense |
ANKFY1 |
3 |
80928 |
3.707E-5 |
40464 |
0 |
5.03525E-4 |
17-4113220-G-A
|
p.Leu161Leu |
synonymous |
ANKFY1 |
1 |
80922 |
1.23576E-5 |
40461 |
0 |
8.01892E-6 |
17-4113223-A-T
|
p.Ser160Thr |
missense |
ANKFY1 |
1 |
80886 |
1.23631E-5 |
40443 |
0 |
NA |
17-4113226-T-G
|
p.Met159Leu |
missense |
ANKFY1 |
1 |
80882 |
1.23637E-5 |
40441 |
0 |
3.18431E-5 |
17-4120271-G-C
|
c.458+7C>G |
splice_region |
ANKFY1 |
2 |
80924 |
2.47145E-5 |
40462 |
0 |
NA |
17-4120285-T-C
|
p.Arg151Gly |
missense |
ANKFY1 |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
NA |
17-4120305-C-T
|
p.Arg144Gln |
missense |
ANKFY1 |
1 |
80950 |
1.23533E-5 |
40475 |
0 |
8.35506E-6 |
17-4120308-T-C
|
p.Asn143Ser |
missense |
ANKFY1 |
1 |
80952 |
1.2353E-5 |
40476 |
0 |
4.00853E-6 |
17-4120319-C-T
|
p.Met139Ile |
missense |
ANKFY1 |
1 |
80954 |
1.23527E-5 |
40477 |
0 |
NA |
17-4120358-C-T
|
p.Leu126Leu |
synonymous |
ANKFY1 |
1 |
80928 |
1.23567E-5 |
40464 |
0 |
NA |
17-4120360-G-C
|
p.Leu126Val |
missense |
ANKFY1 |
1 |
80912 |
1.23591E-5 |
40456 |
0 |
NA |
17-4120380-C-T
|
p.Arg119His |
missense |
ANKFY1 |
10 |
80850 |
1.23686E-4 |
40425 |
0 |
0.00700726 |
17-4120387-T-C
|
p.Met117Val |
missense |
ANKFY1 |
1 |
80768 |
1.23811E-5 |
40384 |
0 |
3.18451E-5 |
17-4120394-C-T
|
p.Thr114Thr |
synonymous |
ANKFY1 |
4 |
80678 |
4.95798E-5 |
40339 |
0 |
8.29573E-6 |
17-4120395-G-A
|
p.Thr114Met |
missense |
ANKFY1 |
7 |
80632 |
8.68142E-5 |
40316 |
0 |
1.16138E-4 |
17-4120397-C-T
|
p.Val113Val |
synonymous |
ANKFY1 |
1 |
80596 |
1.24076E-5 |
40298 |
0 |
3.20703E-5 |
17-4120406-A-C
|
p.Asn110Lys |
missense |
ANKFY1 |
1 |
80440 |
1.24316E-5 |
40220 |
0 |
3.18471E-5 |
17-4139069-G-A
|
p.Ser107Leu |
missense+splice_region |
ANKFY1 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
NA |
17-4139073-G-C
|
p.Leu106Val |
missense |
ANKFY1 |
1 |
80874 |
1.23649E-5 |
40437 |
0 |
NA |
17-4139079-A-G
|
p.Leu104Leu |
synonymous |
ANKFY1 |
2 |
80896 |
2.47231E-5 |
40448 |
0 |
3.18451E-5 |
17-4139089-G-A
|
p.Ser100Ser |
synonymous |
ANKFY1 |
16 |
80926 |
1.97711E-4 |
40463 |
0 |
7.32204E-4 |
17-4139105-A-G
|
p.Leu95Pro |
missense |
ANKFY1 |
2 |
80958 |
2.47042E-5 |
40479 |
0 |
1.65637E-5 |
17-4139123-C-T
|
p.Arg89His |
missense |
ANKFY1 |
1 |
80960 |
1.23518E-5 |
40480 |
0 |
4.00798E-6 |
17-4139124-G-A
|
p.Arg89Cys |
missense |
ANKFY1 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
4.14113E-5 |
17-4139131-C-G
|
p.Leu86Leu |
synonymous |
ANKFY1 |
3 |
80962 |
3.70544E-5 |
40481 |
0 |
8.28295E-6 |
17-4139151-T-C
|
p.Ser80Gly |
missense |
ANKFY1 |
1 |
80954 |
1.23527E-5 |
40477 |
0 |
2.48542E-5 |
17-4139154-T-C
|
p.Ile79Val |
missense |
ANKFY1 |
7 |
80960 |
8.64625E-5 |
40480 |
0 |
NA |
17-4139160-T-C
|
p.Arg77Gly |
missense |
ANKFY1 |
2 |
80946 |
2.47078E-5 |
40473 |
0 |
8.28803E-6 |
17-4139176-C-T
|
p.Lys71Lys |
synonymous |
ANKFY1 |
8 |
80910 |
9.88753E-5 |
40455 |
0 |
3.07207E-4 |
17-4139185-G-A
|
p.Ser68Ser |
splice_region+synonymous |
ANKFY1 |
25 |
80814 |
3.09352E-4 |
40407 |
0 |
1.90998E-4 |
17-4139188-G-GTACTGCTCCTGCTCGTAGAGGTCTGCCACGATGGCC
|
c.204-4_204-3insGGCCATCGTGGCAGACCTCTACGAGCAGGAGCAGTA |
splice_region |
ANKFY1 |
4 |
80808 |
4.95E-5 |
40404 |
2 |
NA |
17-4145543-TC-AT
|
c.203+7_203+8delGAinsAT |
splice_region |
ANKFY1 |
1 |
79420 |
1.25913E-5 |
39710 |
0 |
NA |
17-4145557-T-C
|
p.Gln66Arg |
missense |
ANKFY1 |
3 |
79960 |
3.75188E-5 |
39980 |
0 |
4.59196E-6 |
17-4145563-T-C
|
p.Gln64Arg |
missense |
ANKFY1 |
2 |
80076 |
2.49763E-5 |
40038 |
0 |
4.49345E-6 |
17-4145568-G-A
|
p.Tyr62Tyr |
synonymous |
ANKFY1 |
3 |
80164 |
3.74233E-5 |
40082 |
0 |
9.55536E-5 |
17-4145577-T-C
|
p.Ala59Ala |
synonymous |
ANKFY1 |
2 |
80306 |
2.49047E-5 |
40153 |
0 |
6.09167E-5 |
17-4145586-G-A
|
p.Ala56Ala |
synonymous |
ANKFY1 |
1 |
80474 |
1.24264E-5 |
40237 |
0 |
NA |
17-4145596-C-T
|
p.Arg53His |
missense |
ANKFY1 |
1 |
80584 |
1.24094E-5 |
40292 |
0 |
3.35154E-5 |
17-4145612-C-T
|
p.Glu48Lys |
missense |
ANKFY1 |
2 |
80746 |
2.4769E-5 |
40373 |
0 |
6.37146E-5 |
17-4145613-G-T
|
p.Ser47Arg |
missense |
ANKFY1 |
1 |
80760 |
1.23824E-5 |
40380 |
0 |
4.31198E-6 |
17-4145624-CCTT-C
|
p.Lys43del |
conservative_inframe_deletion |
ANKFY1 |
1 |
80816 |
1.23738E-5 |
40408 |
0 |
3.18471E-5 |
17-4145627-T-C
|
p.Lys43Glu |
missense |
ANKFY1 |
1 |
80824 |
1.23726E-5 |
40412 |
0 |
NA |
17-4145634-C-T
|
p.Gln40Gln |
synonymous |
ANKFY1 |
2 |
80794 |
2.47543E-5 |
40397 |
0 |
NA |
17-4145637-C-T
|
p.Ala39Ala |
synonymous |
ANKFY1 |
6 |
80772 |
7.42832E-5 |
40386 |
0 |
6.67022E-5 |
17-4145638-G-A
|
p.Ala39Val |
missense |
ANKFY1 |
4 |
80758 |
4.95307E-5 |
40379 |
0 |
3.18512E-5 |
17-4145640-A-C
|
p.Ala38Ala |
synonymous |
ANKFY1 |
2 |
80794 |
2.47543E-5 |
40397 |
0 |
NA |
17-4145642-C-T
|
p.Ala38Thr |
missense |
ANKFY1 |
2 |
80798 |
2.47531E-5 |
40399 |
0 |
NA |
17-4145647-A-G
|
p.Leu36Pro |
missense |
ANKFY1 |
1 |
80794 |
1.23772E-5 |
40397 |
0 |
8.33722E-6 |
17-4145648-G-C
|
p.Leu36Val |
missense |
ANKFY1 |
3 |
80780 |
3.71379E-5 |
40390 |
0 |
NA |
17-4145651-C-T
|
p.Ala35Thr |
missense |
ANKFY1 |
2 |
80738 |
2.47715E-5 |
40369 |
0 |
1.67555E-5 |
17-4145652-G-A
|
p.Cys34Cys |
synonymous |
ANKFY1 |
3 |
80730 |
3.71609E-5 |
40365 |
0 |
6.37024E-5 |
17-4145670-C-T
|
p.Ala28Ala |
synonymous |
ANKFY1 |
7 |
80760 |
8.66766E-5 |
40380 |
0 |
4.17564E-5 |
17-4145671-G-A
|
p.Ala28Val |
missense |
ANKFY1 |
1 |
80736 |
1.2386E-5 |
40368 |
0 |
8.38012E-6 |
17-4145691-G-C
|
p.Val21Val |
synonymous |
ANKFY1 |
1 |
80700 |
1.23916E-5 |
40350 |
0 |
NA |
17-4145704-C-T
|
p.Arg17Gln |
missense |
ANKFY1 |
1 |
80664 |
1.23971E-5 |
40332 |
0 |
NA |
17-4145714-T-G
|
p.Met14Leu |
missense |
ANKFY1 |
1 |
80622 |
1.24036E-5 |
40311 |
0 |
2.57091E-4 |
17-4145721-C-A
|
p.Lys11Asn |
missense |
ANKFY1 |
36 |
80552 |
4.46916E-4 |
40276 |
0 |
3.10543E-4 |
17-4145739-C-A
|
p.Glu5Asp |
missense |
ANKFY1 |
1 |
80356 |
1.24446E-5 |
40178 |
0 |
NA |
17-4145747-C-T
|
c.11-4G>A |
splice_region |
ANKFY1 |
1 |
80224 |
1.24651E-5 |
40112 |
0 |
NA |
17-4166883-G-A
|
c.136+7C>T |
splice_region |
ANKFY1 |
12 |
48186 |
2.49035E-4 |
24093 |
0 |
2.33838E-4 |
17-4166884-GCTT-G
|
c.136+3_136+5delAAG |
splice_region |
ANKFY1 |
38 |
48474 |
7.83925E-4 |
24237 |
0 |
0.0011803 |
17-4166884-G-A
|
c.136+6C>T |
splice_region |
ANKFY1 |
1 |
48478 |
2.06279E-5 |
24239 |
0 |
7.79496E-6 |
17-4166889-C-T
|
c.136+1G>A |
splice_donor |
ANKFY1 |
1 |
49816 |
2.00739E-5 |
24908 |
0 |
7.79083E-6 |
17-4166892-C-T
|
p.Gly45Glu |
missense+splice_region |
ANKFY1 |
1 |
50522 |
1.97934E-5 |
25261 |
0 |
1.55907E-5 |
17-4166898-G-A
|
p.Ala43Val |
missense |
ANKFY1 |
4 |
51558 |
7.75825E-5 |
25779 |
0 |
NA |
17-4166914-G-A
|
p.Arg38Trp |
missense |
ANKFY1 |
2 |
53912 |
3.70975E-5 |
26956 |
0 |
9.30233E-5 |
17-4166926-C-T
|
p.Ala34Thr |
missense |
ANKFY1 |
1 |
55232 |
1.81054E-5 |
27616 |
0 |
NA |
17-4166930-C-A
|
p.Arg32Arg |
synonymous |
ANKFY1 |
9 |
55704 |
1.61568E-4 |
27852 |
0 |
7.01262E-4 |
17-4166932-G-A
|
p.Arg32Trp |
missense |
ANKFY1 |
1 |
55642 |
1.7972E-5 |
27821 |
0 |
1.55872E-5 |
17-4166943-G-C
|
p.Pro28Arg |
missense |
ANKFY1 |
1 |
56322 |
1.77551E-5 |
28161 |
0 |
NA |
17-4166953-G-A
|
p.Arg25Cys |
missense |
ANKFY1 |
1 |
56766 |
1.76162E-5 |
28383 |
0 |
3.19183E-5 |
17-4166972-G-A
|
p.Arg18Arg |
synonymous |
ANKFY1 |
3 |
57106 |
5.25339E-5 |
28553 |
0 |
1.59464E-5 |
17-4166979-C-T
|
p.Arg16Lys |
missense |
ANKFY1 |
1 |
57918 |
1.72658E-5 |
28959 |
0 |
3.31983E-5 |
17-4166984-A-T
|
p.Ala14Ala |
synonymous |
ANKFY1 |
2 |
58386 |
3.42548E-5 |
29193 |
0 |
2.6261E-5 |
17-4166991-C-A
|
p.Ser12Ile |
missense |
ANKFY1 |
98 |
58514 |
0.00167481 |
29257 |
0 |
0.00322478 |
17-4166994-C-T
|
p.Arg11Gln |
missense |
ANKFY1 |
1 |
58752 |
1.70207E-5 |
29376 |
0 |
4.30737E-5 |
17-4167016-G-A
|
p.Pro4Ser |
missense |
ANKFY1 |
1 |
60424 |
1.65497E-5 |
30212 |
0 |
3.19448E-5 |
17-4167017-G-C
|
p.Thr3Thr |
synonymous |
ANKFY1 |
1 |
60580 |
1.65071E-5 |
30290 |
0 |
NA |
17-4167018-G-T
|
p.Thr3Asn |
missense |
ANKFY1 |
1 |
60622 |
1.64957E-5 |
30311 |
0 |
NA |
17-4167060-G-A
|
c.-35C>T |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
1 |
69850 |
1.43164E-5 |
34925 |
0 |
NA |
17-4167107-G-A
|
c.-82C>T |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
6 |
75036 |
7.99616E-5 |
37518 |
0 |
NA |
17-4167126-T-G
|
c.-101A>C |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
4 |
76676 |
5.21676E-5 |
38338 |
0 |
6.38121E-5 |
17-4167219-A-G
|
c.10+8T>C |
splice_region |
ANKFY1 |
1 |
79500 |
1.25786E-5 |
39750 |
0 |
NA |
17-4167219-A-C
|
c.10+8T>G |
splice_region |
ANKFY1 |
5 |
79500 |
6.28931E-5 |
39750 |
0 |
6.25E-4 |
17-4167221-C-T
|
c.10+6G>A |
splice_region |
ANKFY1 |
1 |
79522 |
1.25751E-5 |
39761 |
0 |
4.02385E-6 |
17-4167223-C-T
|
c.10+4G>A |
splice_region |
ANKFY1 |
1 |
79598 |
1.25631E-5 |
39799 |
0 |
4.02298E-6 |
17-4167231-C-T
|
p.Ala2Ala |
synonymous |
ANKFY1 |
1 |
79664 |
1.25527E-5 |
39832 |
0 |
1.00539E-4 |
17-4167236-T-G
|
p.Met1? |
initiator_codon |
ANKFY1 |
1 |
79722 |
1.25436E-5 |
39861 |
0 |
NA |
17-4167246-G-A
|
c.-10C>T |
5_prime_UTR_premature_start_codon_gain |
ANKFY1 |
1 |
79706 |
1.25461E-5 |
39853 |
0 |
8.39997E-6 |