18-14748299-G-T
|
c.-120G>T |
5_prime_UTR_premature_start_codon_gain |
ANKRD30B |
16 |
54806 |
2.91939E-4 |
27403 |
0 |
0.00127869 |
18-14748366-C-T
|
c.-53C>T |
5_prime_UTR_premature_start_codon_gain |
ANKRD30B |
1 |
75672 |
1.32149E-5 |
37836 |
0 |
3.2076E-5 |
18-14748400-C-G
|
c.-19C>G |
5_prime_UTR_premature_start_codon_gain |
ANKRD30B |
2 |
78484 |
2.54829E-5 |
39242 |
0 |
NA |
18-14748411-C-T
|
c.-8C>T |
5_prime_UTR_premature_start_codon_gain |
ANKRD30B |
2 |
78906 |
2.53466E-5 |
39453 |
0 |
NA |
18-14748423-A-C
|
p.Lys2Thr |
missense |
ANKRD30B |
1 |
79274 |
1.26145E-5 |
39637 |
0 |
1.73313E-5 |
18-14748426-G-A
|
p.Arg3Lys |
missense |
ANKRD30B |
1 |
79320 |
1.26072E-5 |
39660 |
0 |
3.19163E-5 |
18-14748427-G-T
|
p.Arg3Ser |
missense |
ANKRD30B |
63 |
79318 |
7.94271E-4 |
39659 |
1 |
0.00300976 |
18-14748435-C-A
|
p.Ala6Asp |
missense |
ANKRD30B |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
NA |
18-14748438-C-T
|
p.Ala7Val |
missense |
ANKRD30B |
1 |
79474 |
1.25827E-5 |
39737 |
0 |
3.19142E-5 |
18-14748439-C-A
|
p.Ala7Ala |
synonymous |
ANKRD30B |
2 |
79510 |
2.51541E-5 |
39755 |
0 |
1.58519E-5 |
18-14748455-C-A
|
p.Arg13Arg |
synonymous |
ANKRD30B |
1 |
79542 |
1.2572E-5 |
39771 |
0 |
NA |
18-14748458-G-A
|
p.Gly14Ser |
missense |
ANKRD30B |
1 |
79604 |
1.25622E-5 |
39802 |
0 |
2.74556E-5 |
18-14748463-G-T
|
p.Pro15Pro |
synonymous |
ANKRD30B |
45 |
79580 |
5.65469E-4 |
39790 |
0 |
0.00120482 |
18-14748467-C-A
|
p.Pro17Thr |
missense |
ANKRD30B |
1 |
79568 |
1.25679E-5 |
39784 |
0 |
NA |
18-14748469-C-T
|
p.Pro17Pro |
synonymous |
ANKRD30B |
2 |
79678 |
2.5101E-5 |
39839 |
0 |
NA |
18-14748473-A-C
|
p.Asn19His |
missense |
ANKRD30B |
1 |
79640 |
1.25565E-5 |
39820 |
0 |
NA |
18-14748474-A-G
|
p.Asn19Ser |
missense |
ANKRD30B |
34 |
79716 |
4.26514E-4 |
39858 |
0 |
4.77612E-4 |
18-14748476-C-A
|
p.Pro20Thr |
missense |
ANKRD30B |
2 |
79772 |
2.50715E-5 |
39886 |
0 |
6.53142E-6 |
18-14748512-G-C
|
p.Gly32Arg |
missense |
ANKRD30B |
1 |
79946 |
1.25084E-5 |
39973 |
0 |
3.18715E-5 |
18-14748512-G-A
|
p.Gly32Arg |
missense |
ANKRD30B |
2 |
79946 |
2.50169E-5 |
39973 |
0 |
NA |
18-14748525-TC-T
|
p.Phe36fs |
frameshift |
ANKRD30B |
16 |
79974 |
2.00065E-4 |
39987 |
0 |
5.17063E-4 |
18-14748530-G-A
|
p.Asp38Asn |
missense |
ANKRD30B |
4 |
80034 |
4.99788E-5 |
40017 |
0 |
9.42418E-5 |
18-14748536-G-A
|
p.Gly40Arg |
missense |
ANKRD30B |
2 |
80066 |
2.49794E-5 |
40033 |
0 |
NA |
18-14748538-G-A
|
p.Gly40Gly |
synonymous |
ANKRD30B |
1 |
80052 |
1.24919E-5 |
40026 |
0 |
NA |
18-14748541-G-A
|
p.Lys41Lys |
synonymous |
ANKRD30B |
1 |
80086 |
1.24866E-5 |
40043 |
0 |
NA |
18-14748548-A-G
|
p.Thr44Ala |
missense |
ANKRD30B |
1 |
80108 |
1.24831E-5 |
40054 |
0 |
NA |
18-14748560-C-A
|
p.Arg48Arg |
synonymous |
ANKRD30B |
1 |
80108 |
1.24831E-5 |
40054 |
0 |
0.00203252 |
18-14748560-C-T
|
p.Arg48Trp |
missense |
ANKRD30B |
3 |
80106 |
3.74504E-5 |
40053 |
0 |
4.43695E-5 |
18-14748569-G-A
|
p.Val51Ile |
missense |
ANKRD30B |
2 |
80146 |
2.49545E-5 |
40073 |
0 |
NA |
18-14748571-C-G
|
p.Val51Val |
synonymous |
ANKRD30B |
1 |
80148 |
1.24769E-5 |
40074 |
0 |
9.56328E-5 |
18-14748574-G-A
|
p.Gln52Gln |
synonymous |
ANKRD30B |
1 |
80144 |
1.24775E-5 |
40072 |
0 |
NA |
18-14748578-C-A
|
p.Leu54Met |
missense |
ANKRD30B |
10 |
80124 |
1.24807E-4 |
40062 |
0 |
4.14514E-4 |
18-14748607-C-G
|
p.Pro63Pro |
synonymous |
ANKRD30B |
2 |
80050 |
2.49844E-5 |
40025 |
0 |
NA |
18-14748613-C-G
|
p.Asn65Lys |
missense |
ANKRD30B |
1 |
79984 |
1.25025E-5 |
39992 |
0 |
NA |
18-14748615-T-A
|
p.Leu66Gln |
missense |
ANKRD30B |
1 |
79998 |
1.25003E-5 |
39999 |
0 |
4.49357E-5 |
18-14748627-A-G
|
p.Asp70Gly |
missense |
ANKRD30B |
1 |
79888 |
1.25175E-5 |
39944 |
0 |
NA |
18-14748630-TGAA-T
|
p.Lys73del |
disruptive_inframe_deletion |
ANKRD30B |
4 |
79864 |
5.00851E-5 |
39932 |
0 |
1.17632E-5 |
18-14748630-T-C
|
p.Met71Thr |
missense |
ANKRD30B |
1 |
79866 |
1.2521E-5 |
39933 |
0 |
4.80631E-5 |
18-14748632-A-C
|
p.Lys72Gln |
missense |
ANKRD30B |
2 |
79866 |
2.50419E-5 |
39933 |
0 |
5.94806E-6 |
18-14748632-A-G
|
p.Lys72Glu |
missense |
ANKRD30B |
1 |
79866 |
1.2521E-5 |
39933 |
0 |
NA |
18-14748635-A-G
|
p.Lys73Glu |
missense |
ANKRD30B |
1 |
79820 |
1.25282E-5 |
39910 |
0 |
3.18837E-5 |
18-14752560-C-T
|
c.222-5C>T |
splice_region |
ANKRD30B |
8 |
80166 |
9.97929E-5 |
40083 |
0 |
6.37146E-5 |
18-14752561-G-A
|
c.222-4G>A |
splice_region |
ANKRD30B |
5 |
80158 |
6.23768E-5 |
40079 |
0 |
6.32631E-5 |
18-14752561-G-C
|
c.222-4G>C |
splice_region |
ANKRD30B |
2 |
80158 |
2.49507E-5 |
40079 |
0 |
NA |
18-14752575-C-T
|
p.His78Tyr |
missense |
ANKRD30B |
6 |
80212 |
7.48018E-5 |
40106 |
0 |
1.31114E-4 |
18-14752591-A-C
|
p.Asn83Thr |
missense |
ANKRD30B |
1 |
80252 |
1.24607E-5 |
40126 |
0 |
NA |
18-14752601-A-G
|
p.Ala86Ala |
synonymous |
ANKRD30B |
511 |
80234 |
0.00636887 |
40117 |
1 |
0.00631228 |
18-14752613-A-C
|
p.Thr90Thr |
synonymous |
ANKRD30B |
3 |
80242 |
3.73869E-5 |
40121 |
0 |
2.03264E-5 |
18-14752621-T-C
|
p.Val93Ala |
missense |
ANKRD30B |
1 |
80226 |
1.24648E-5 |
40113 |
0 |
4.06405E-6 |
18-14752625-C-T
|
p.Asp94Asp |
synonymous |
ANKRD30B |
2 |
80212 |
2.49339E-5 |
40106 |
0 |
3.23025E-5 |
18-14752625-CAGAA-C
|
p.Arg95fs |
frameshift |
ANKRD30B |
2 |
80212 |
2.49339E-5 |
40106 |
0 |
NA |
18-14752632-T-G
|
p.Cys97Gly |
missense |
ANKRD30B |
3 |
80168 |
3.74214E-5 |
40084 |
0 |
0.00106496 |
18-14752641-A-G
|
p.Asn100Asp |
missense |
ANKRD30B |
1 |
80142 |
1.24779E-5 |
40071 |
0 |
1.14529E-5 |
18-14752655-C-T
|
p.Gly104Gly |
synonymous |
ANKRD30B |
34 |
80044 |
4.24766E-4 |
40022 |
0 |
6.25E-4 |
18-14752656-G-A
|
p.Glu105Lys |
missense |
ANKRD30B |
1 |
80060 |
1.24906E-5 |
40030 |
0 |
1.26218E-5 |
18-14752659-G-A
|
p.Gly106Arg |
missense |
ANKRD30B |
1 |
80074 |
1.24884E-5 |
40037 |
0 |
2.55846E-5 |
18-14752668-C-T
|
p.Pro109Ser |
missense |
ANKRD30B |
4 |
80078 |
4.99513E-5 |
40039 |
0 |
4.3086E-6 |
18-14752831-C-A
|
c.337-7C>A |
splice_region |
ANKRD30B |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
NA |
18-14752832-T-C
|
c.337-6T>C |
splice_region |
ANKRD30B |
1 |
80932 |
1.23561E-5 |
40466 |
0 |
4.1908E-6 |
18-14752837-G-A
|
c.337-1G>A |
splice_acceptor |
ANKRD30B |
2 |
80948 |
2.47072E-5 |
40474 |
1 |
NA |
18-14752841-C-G
|
p.Leu114Val |
missense |
ANKRD30B |
3 |
80956 |
3.70572E-5 |
40478 |
0 |
NA |
18-14752849-C-T
|
p.Cys116Cys |
synonymous |
ANKRD30B |
56 |
80974 |
6.9158E-4 |
40487 |
1 |
0.00605449 |
18-14752850-G-A
|
p.Glu117Lys |
missense |
ANKRD30B |
2 |
80976 |
2.46987E-5 |
40488 |
0 |
1.65507E-5 |
18-14752863-G-A
|
p.Cys121Tyr |
missense |
ANKRD30B |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
1.64628E-5 |
18-14752863-G-C
|
p.Cys121Ser |
missense |
ANKRD30B |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
NA |
18-14752882-T-A
|
p.Asp127Glu |
missense |
ANKRD30B |
2 |
80976 |
2.46987E-5 |
40488 |
0 |
1.01418E-4 |
18-14752883-G-T
|
p.Ala128Ser |
missense |
ANKRD30B |
1 |
80980 |
1.23487E-5 |
40490 |
0 |
NA |
18-14752909-T-C
|
p.Asp136Asp |
synonymous |
ANKRD30B |
2 |
80960 |
2.47036E-5 |
40480 |
0 |
1.14784E-5 |
18-14752910-G-A
|
p.Val137Met |
missense |
ANKRD30B |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
2.30091E-5 |
18-14752915-T-C
|
p.Tyr138Tyr |
synonymous |
ANKRD30B |
1 |
80956 |
1.23524E-5 |
40478 |
0 |
NA |
18-14752917-G-A
|
p.Gly139Asp |
missense |
ANKRD30B |
2 |
80960 |
2.47036E-5 |
40480 |
0 |
NA |
18-14752923-C-T
|
p.Thr141Met |
missense |
ANKRD30B |
2 |
80946 |
2.47078E-5 |
40473 |
0 |
7.28551E-5 |
18-14752923-C-G
|
p.Thr141Arg |
missense |
ANKRD30B |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
6.25E-4 |
18-14752936-T-C
|
p.Tyr145Tyr |
synonymous |
ANKRD30B |
3 |
80930 |
3.70691E-5 |
40465 |
0 |
2.33487E-5 |
18-14752939-C-T
|
p.Ala146Ala |
synonymous |
ANKRD30B |
6 |
80938 |
7.41308E-5 |
40469 |
0 |
1.17625E-5 |
18-14752939-C-A
|
p.Ala146Ala |
synonymous |
ANKRD30B |
1 |
80938 |
1.23551E-5 |
40469 |
0 |
4.32175E-6 |
18-14752940-G-A
|
p.Val147Ile |
missense |
ANKRD30B |
2 |
80932 |
2.47121E-5 |
40466 |
0 |
4.70621E-5 |
18-14752949-G-A
|
p.Glu150Lys |
missense |
ANKRD30B |
2 |
80926 |
2.47139E-5 |
40463 |
0 |
NA |
18-14752957-G-A
|
p.Leu152Leu |
synonymous |
ANKRD30B |
38701 |
80650 |
0.479864 |
40325 |
9348 |
0.52975 |
18-14752961-A-G
|
p.Met154Val |
missense |
ANKRD30B |
5 |
80910 |
6.17971E-5 |
40455 |
0 |
2.56246E-4 |
18-14752962-T-C
|
p.Met154Thr |
missense |
ANKRD30B |
1 |
80902 |
1.23606E-5 |
40451 |
0 |
NA |
18-14752967-G-A
|
p.Ala156Thr |
missense |
ANKRD30B |
1 |
80890 |
1.23625E-5 |
40445 |
0 |
NA |
18-14752976-C-T
|
p.Leu159Leu |
synonymous |
ANKRD30B |
18 |
80898 |
2.22502E-4 |
40449 |
0 |
2.86642E-4 |
18-14752986-G-A
|
p.Gly162Asp |
missense |
ANKRD30B |
18 |
80876 |
2.22563E-4 |
40438 |
0 |
2.5481E-4 |
18-14752990-A-G
|
p.Ala163Ala |
synonymous |
ANKRD30B |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
3.18451E-5 |
18-14752993-C-T
|
p.Val164Val |
synonymous |
ANKRD30B |
1 |
80810 |
1.23747E-5 |
40405 |
0 |
NA |
18-14752996-C-T
|
p.Ile165Ile |
synonymous |
ANKRD30B |
47 |
80772 |
5.81885E-4 |
40386 |
0 |
8.92459E-4 |
18-14752997-G-A
|
p.Glu166Lys |
missense |
ANKRD30B |
3 |
80762 |
3.71462E-5 |
40381 |
0 |
4.46495E-5 |
18-14753008-C-G
|
p.Asn169Lys |
missense |
ANKRD30B |
1 |
80648 |
1.23996E-5 |
40324 |
0 |
1.61582E-5 |
18-14753010-AG-A
|
p.Val167fs |
frameshift |
ANKRD30B |
1 |
80614 |
1.24048E-5 |
40307 |
0 |
5.06073E-4 |
18-14754893-T-A
|
c.511-5T>A |
splice_region |
ANKRD30B |
3 |
79030 |
3.79603E-5 |
39515 |
0 |
3.18471E-5 |
18-14754898-G-C
|
p.Ala171Pro |
missense+splice_region |
ANKRD30B |
1 |
79352 |
1.26021E-5 |
39676 |
0 |
NA |
18-14754898-G-A
|
p.Ala171Thr |
missense+splice_region |
ANKRD30B |
1 |
79352 |
1.26021E-5 |
39676 |
0 |
NA |
18-14754944-A-C
|
p.Gln186Pro |
missense |
ANKRD30B |
5 |
80260 |
6.22975E-5 |
40130 |
0 |
0.00101626 |
18-14754947-CTG-C
|
p.Val188fs |
frameshift |
ANKRD30B |
2 |
80258 |
2.49196E-5 |
40129 |
0 |
7.33891E-5 |
18-14754949-G-C
|
p.Val188Leu |
missense |
ANKRD30B |
2 |
80240 |
2.49252E-5 |
40120 |
0 |
NA |
18-14754949-G-GTGGAA
|
p.Phe190fs |
frameshift |
ANKRD30B |
1 |
80240 |
1.24626E-5 |
40120 |
0 |
NA |
18-14754955-T-A
|
p.Phe190Ile |
missense |
ANKRD30B |
2 |
80236 |
2.49265E-5 |
40118 |
0 |
5.81727E-6 |
18-14754964-A-G
|
p.Thr193Ala |
missense |
ANKRD30B |
39 |
80114 |
4.86806E-4 |
40057 |
0 |
5.86717E-4 |
18-14754968-A-AAAATGC
|
p.Asn199_Ala200insAlaAsn |
disruptive_inframe_insertion |
ANKRD30B |
18 |
80098 |
2.24725E-4 |
40049 |
0 |
4.13934E-4 |
18-14754979-G-GCAAATT
|
p.Asn199_Ala200insSerAsn |
disruptive_inframe_insertion |
ANKRD30B |
1 |
79864 |
1.25213E-5 |
39932 |
0 |
1.31091E-5 |
18-14754984-C-T
|
p.Asn199Asn |
synonymous |
ANKRD30B |
26 |
79712 |
3.26174E-4 |
39856 |
0 |
0.00204499 |
18-14754985-G-A
|
p.Ala200Thr |
missense |
ANKRD30B |
1 |
79722 |
1.25436E-5 |
39861 |
0 |
4.36338E-5 |
18-14754997-T-A
|
p.Ser204Thr |
missense |
ANKRD30B |
3 |
79250 |
3.78549E-5 |
39625 |
0 |
3.18898E-5 |
18-14755005-G-C
|
c.617+1G>C |
splice_donor |
ANKRD30B |
1 |
78410 |
1.27535E-5 |
39205 |
0 |
NA |
18-14755008-T-C
|
c.617+4T>C |
splice_region |
ANKRD30B |
1 |
77794 |
1.28545E-5 |
38897 |
0 |
NA |
18-14755011-T-C
|
c.617+7T>C |
splice_region |
ANKRD30B |
1 |
77674 |
1.28743E-5 |
38837 |
0 |
6.27353E-4 |
18-14757817-A-G
|
p.Thr207Thr |
synonymous |
ANKRD30B |
1 |
80868 |
1.23658E-5 |
40434 |
0 |
1.21634E-5 |
18-14757825-T-C
|
p.Met210Thr |
missense |
ANKRD30B |
3 |
80880 |
3.7092E-5 |
40440 |
0 |
4.02826E-6 |
18-14757828-T-C
|
p.Leu211Pro |
missense |
ANKRD30B |
2 |
80890 |
2.47249E-5 |
40445 |
0 |
1.70683E-5 |
18-14757855-T-C
|
p.Ile220Thr |
missense |
ANKRD30B |
1 |
80906 |
1.236E-5 |
40453 |
0 |
NA |
18-14757860-G-A
|
p.Gly222Ser |
missense |
ANKRD30B |
1 |
80894 |
1.23619E-5 |
40447 |
0 |
6.25E-4 |
18-14757860-G-T
|
p.Gly222Cys |
missense |
ANKRD30B |
1 |
80894 |
1.23619E-5 |
40447 |
0 |
NA |
18-14757874-G-A
|
p.Gln226Gln |
synonymous |
ANKRD30B |
1 |
80902 |
1.23606E-5 |
40451 |
0 |
3.1839E-5 |
18-14757880-T-C
|
p.Asn228Asn |
synonymous |
ANKRD30B |
1 |
80916 |
1.23585E-5 |
40458 |
0 |
3.22188E-5 |
18-14757887-G-A
|
p.Val231Ile |
missense |
ANKRD30B |
10 |
80900 |
1.23609E-4 |
40450 |
0 |
1.41861E-4 |
18-14757896-G-T
|
p.Glu234* |
stop_gained |
ANKRD30B |
1 |
80908 |
1.23597E-5 |
40454 |
0 |
NA |
18-14757901-C-T
|
p.Asp235Asp |
synonymous |
ANKRD30B |
1 |
80906 |
1.236E-5 |
40453 |
0 |
1.11401E-5 |
18-14757917-G-C
|
p.Ala241Pro |
missense |
ANKRD30B |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
1.27466E-5 |
18-14757923-C-T
|
p.Arg243Cys |
missense |
ANKRD30B |
1 |
80882 |
1.23637E-5 |
40441 |
0 |
6.76993E-5 |
18-14757935-G-T
|
p.Ala247Ser |
missense |
ANKRD30B |
4 |
80864 |
4.94658E-5 |
40432 |
0 |
1.09759E-4 |
18-14757956-G-T
|
c.755+5G>T |
splice_region |
ANKRD30B |
1 |
80772 |
1.23805E-5 |
40386 |
0 |
NA |
18-14760549-A-G
|
c.756-4A>G |
splice_region |
ANKRD30B |
1 |
76216 |
1.31206E-5 |
38108 |
0 |
NA |
18-14760552-G-A
|
c.756-1G>A |
splice_acceptor |
ANKRD30B |
1 |
76316 |
1.31034E-5 |
38158 |
0 |
3.1904E-5 |
18-14760561-A-G
|
p.Gln255Arg |
missense |
ANKRD30B |
2 |
76584 |
2.61151E-5 |
38292 |
0 |
7.10227E-6 |
18-14760575-C-G
|
p.His260Asp |
missense |
ANKRD30B |
2 |
76816 |
2.60362E-5 |
38408 |
0 |
NA |
18-14760577-T-C
|
p.His260His |
synonymous |
ANKRD30B |
3 |
76888 |
3.90178E-5 |
38444 |
0 |
1.37103E-5 |
18-14760582-G-A
|
p.Arg262Gln |
missense |
ANKRD30B |
2 |
76882 |
2.60139E-5 |
38441 |
0 |
6.38407E-5 |
18-14760583-A-G
|
p.Arg262Arg |
synonymous |
ANKRD30B |
1 |
76958 |
1.29941E-5 |
38479 |
0 |
3.18695E-5 |
18-14760607-T-C
|
p.Asn270Asn |
synonymous |
ANKRD30B |
1 |
76808 |
1.30195E-5 |
38404 |
0 |
6.65097E-6 |
18-14760614-C-T
|
p.Pro273Ser |
missense |
ANKRD30B |
6 |
76880 |
7.80437E-5 |
38440 |
0 |
6.106E-5 |
18-14760618-G-A
|
c.820+1G>A |
splice_donor |
ANKRD30B |
1 |
76788 |
1.30229E-5 |
38394 |
0 |
NA |
18-14760625-T-G
|
c.820+8T>G |
splice_region |
ANKRD30B |
1 |
76672 |
1.30426E-5 |
38336 |
0 |
NA |
18-14763690-A-G
|
p.Thr276Ala |
missense |
ANKRD30B |
2 |
80954 |
2.47054E-5 |
40477 |
0 |
NA |
18-14763707-T-C
|
p.Pro281Pro |
synonymous |
ANKRD30B |
2 |
81016 |
2.46865E-5 |
40508 |
0 |
8.726E-6 |
18-14763711-G-A
|
p.Glu283Lys |
missense |
ANKRD30B |
9 |
81026 |
1.11075E-4 |
40513 |
0 |
6.36862E-5 |
18-14763726-G-A
|
p.Ala288Thr |
missense |
ANKRD30B |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
3.18471E-5 |
18-14763727-C-T
|
p.Ala288Val |
missense |
ANKRD30B |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
1.60728E-5 |
18-14763728-G-A
|
p.Ala288Ala |
synonymous |
ANKRD30B |
5 |
81068 |
6.16766E-5 |
40534 |
0 |
3.41787E-5 |
18-14763729-G-T
|
p.Glu289* |
stop_gained |
ANKRD30B |
3 |
81070 |
3.70051E-5 |
40535 |
0 |
NA |
18-14763738-C-T
|
p.Pro292Ser |
missense |
ANKRD30B |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
8.51629E-6 |
18-14763745-C-T
|
p.Thr294Met |
missense |
ANKRD30B |
243 |
81080 |
0.00299704 |
40540 |
0 |
0.00286945 |
18-14763746-G-A
|
p.Thr294Thr |
synonymous |
ANKRD30B |
4 |
81090 |
4.93279E-5 |
40545 |
0 |
3.40414E-5 |
18-14763749-T-G
|
p.Ala295Ala |
synonymous |
ANKRD30B |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
1.70103E-5 |
18-14763752-A-C
|
p.Glu296Asp |
missense |
ANKRD30B |
2 |
81092 |
2.46633E-5 |
40546 |
0 |
3.40084E-5 |
18-14763767-A-G
|
p.Lys301Lys |
synonymous |
ANKRD30B |
5 |
81098 |
6.16538E-5 |
40549 |
0 |
1.27413E-4 |
18-14763774-G-A
|
p.Asp304Asn |
missense |
ANKRD30B |
8 |
81100 |
9.86436E-5 |
40550 |
0 |
1.27405E-4 |
18-14763776-C-T
|
p.Asp304Asp |
synonymous |
ANKRD30B |
16 |
81098 |
1.97292E-4 |
40549 |
1 |
0.00125 |
18-14763786-C-T
|
p.Arg308Cys |
missense |
ANKRD30B |
4 |
81096 |
4.93243E-5 |
40548 |
0 |
6.25E-4 |
18-14763786-C-A
|
p.Arg308Ser |
missense |
ANKRD30B |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
3.18532E-5 |
18-14763787-G-A
|
p.Arg308His |
missense |
ANKRD30B |
2 |
81096 |
2.46621E-5 |
40548 |
0 |
8.64394E-6 |
18-14763792-G-C
|
p.Val310Leu |
missense |
ANKRD30B |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
18-14763801-A-G
|
p.Thr313Ala |
missense |
ANKRD30B |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
18-14763802-C-T
|
p.Thr313Met |
missense |
ANKRD30B |
5 |
81098 |
6.16538E-5 |
40549 |
0 |
8.79183E-5 |
18-14763803-G-A
|
p.Thr313Thr |
synonymous |
ANKRD30B |
8 |
81092 |
9.86534E-5 |
40546 |
0 |
9.56084E-5 |
18-14763805-C-T
|
p.Ser314Phe |
missense |
ANKRD30B |
2 |
81092 |
2.46633E-5 |
40546 |
0 |
1.05746E-4 |
18-14763821-T-C
|
p.Cys319Cys |
synonymous |
ANKRD30B |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
NA |
18-14763829-A-G
|
p.Lys322Arg |
missense |
ANKRD30B |
2 |
81086 |
2.46652E-5 |
40543 |
0 |
NA |
18-14763837-T-G
|
p.Ser325Ala |
missense |
ANKRD30B |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
NA |
18-14763844-A-C
|
p.Lys327Thr |
missense |
ANKRD30B |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
18-14763845-G-T
|
p.Lys327Asn |
missense |
ANKRD30B |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
8.11583E-6 |
18-14763847-T-C
|
p.Phe328Ser |
missense |
ANKRD30B |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
4.05439E-6 |
18-14763879-AT-A
|
p.Leu340fs |
frameshift |
ANKRD30B |
1 |
81058 |
1.23368E-5 |
40529 |
0 |
NA |
18-14763901-C-T
|
p.Thr346Ile |
missense |
ANKRD30B |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
3.09164E-5 |
18-14763911-A-C
|
p.Lys349Asn |
missense |
ANKRD30B |
4 |
80994 |
4.93864E-5 |
40497 |
0 |
3.18451E-5 |
18-14763913-T-A
|
p.Phe350Tyr |
missense |
ANKRD30B |
11 |
80978 |
1.35839E-4 |
40489 |
0 |
1.36952E-4 |
18-14763919-G-A
|
p.Trp352* |
stop_gained |
ANKRD30B |
6 |
80956 |
7.41143E-5 |
40478 |
0 |
1.59816E-4 |
18-14763921-C-CAAAAGA
|
p.Pro353delinsGlnLysThr |
disruptive_inframe_insertion |
ANKRD30B |
2 |
80954 |
2.47054E-5 |
40477 |
0 |
5.38677E-5 |
18-14763922-C-A
|
p.Pro353Gln |
missense |
ANKRD30B |
2 |
80960 |
2.47036E-5 |
40480 |
0 |
5.39875E-5 |
18-14763949-C-T
|
p.Thr362Ile |
missense |
ANKRD30B |
2 |
80872 |
2.47304E-5 |
40436 |
0 |
4.18708E-6 |
18-14763956-G-T
|
p.Glu364Asp |
missense |
ANKRD30B |
3 |
80852 |
3.71048E-5 |
40426 |
0 |
8.45273E-6 |
18-14763956-G-A
|
p.Glu364Glu |
synonymous |
ANKRD30B |
1 |
80852 |
1.23683E-5 |
40426 |
0 |
1.21729E-5 |
18-14763966-A-G
|
p.Thr368Ala |
missense |
ANKRD30B |
2 |
80798 |
2.47531E-5 |
40399 |
0 |
5.08375E-5 |
18-14763980-T-C
|
p.Thr372Thr |
synonymous |
ANKRD30B |
1 |
80716 |
1.23891E-5 |
40358 |
0 |
NA |
18-14763986-C-T
|
p.Cys374Cys |
synonymous |
ANKRD30B |
2 |
80676 |
2.47905E-5 |
40338 |
0 |
1.13068E-4 |
18-14763987-G-A
|
p.Val375Met |
missense |
ANKRD30B |
595 |
80670 |
0.00737573 |
40335 |
14 |
0.0164919 |
18-14763990-G-A
|
p.Ala376Thr |
missense |
ANKRD30B |
1 |
80692 |
1.23928E-5 |
40346 |
0 |
4.46213E-6 |
18-14763992-A-G
|
p.Ala376Ala |
synonymous |
ANKRD30B |
13 |
80694 |
1.61102E-4 |
40347 |
2 |
0.00129485 |
18-14763996-G-T
|
p.Val378Leu |
missense |
ANKRD30B |
2 |
80662 |
2.47948E-5 |
40331 |
0 |
1.4937E-5 |
18-14764000-C-A
|
p.Thr379Lys |
missense |
ANKRD30B |
4 |
80658 |
4.95921E-5 |
40329 |
0 |
3.08632E-5 |
18-14764000-C-T
|
p.Thr379Ile |
missense |
ANKRD30B |
1 |
80658 |
1.2398E-5 |
40329 |
0 |
4.62949E-5 |
18-14764008-A-G
|
p.Lys382Glu |
missense |
ANKRD30B |
4 |
80640 |
4.96032E-5 |
40320 |
0 |
NA |
18-14764029-G-A
|
p.Gly389Arg |
missense |
ANKRD30B |
1 |
80598 |
1.24073E-5 |
40299 |
0 |
5.10777E-6 |
18-14764033-C-T
|
p.Thr390Ile |
missense |
ANKRD30B |
1 |
80616 |
1.24045E-5 |
40308 |
0 |
1.89208E-5 |
18-14764041-A-G
|
p.Met393Val |
missense |
ANKRD30B |
1 |
80564 |
1.24125E-5 |
40282 |
0 |
NA |
18-14764059-A-G
|
p.Lys399Glu |
missense |
ANKRD30B |
1 |
80538 |
1.24165E-5 |
40269 |
0 |
1.27356E-4 |
18-14764065-A-G
|
p.Thr401Ala |
missense |
ANKRD30B |
1 |
80508 |
1.24211E-5 |
40254 |
0 |
NA |
18-14764067-A-G
|
p.Thr401Thr |
synonymous |
ANKRD30B |
1 |
80510 |
1.24208E-5 |
40255 |
0 |
NA |
18-14764073-A-G
|
p.Thr403Thr |
synonymous |
ANKRD30B |
19 |
80454 |
2.3616E-4 |
40227 |
0 |
1.30965E-4 |
18-14764077-G-A
|
p.Ala405Thr |
missense |
ANKRD30B |
3 |
80440 |
3.72949E-5 |
40220 |
0 |
NA |
18-14764078-C-G
|
p.Ala405Gly |
missense |
ANKRD30B |
2 |
80426 |
2.48676E-5 |
40213 |
0 |
1.34427E-5 |
18-14764082-T-C
|
p.Ser406Ser |
synonymous |
ANKRD30B |
2 |
80342 |
2.48936E-5 |
40171 |
0 |
7.08687E-6 |
18-14764087-A-G
|
p.Asn408Ser |
missense+splice_region |
ANKRD30B |
26 |
80288 |
3.23834E-4 |
40144 |
0 |
5.41401E-4 |
18-14764087-A-ATGGTAAGATGCTTGAG
|
p.Met393fs |
frameshift |
ANKRD30B |
2 |
80288 |
2.49103E-5 |
40144 |
0 |
NA |
18-14764089-G-A
|
p.Val409Met |
missense+splice_region |
ANKRD30B |
1 |
80234 |
1.24635E-5 |
40117 |
0 |
NA |
18-14764092-A-G
|
c.1225+3A>G |
splice_region |
ANKRD30B |
6 |
80174 |
7.48372E-5 |
40087 |
0 |
6.3674E-5 |
18-14769338-A-C
|
c.1226-4A>C |
splice_region |
ANKRD30B |
1 |
77870 |
1.28419E-5 |
38935 |
0 |
6.39918E-5 |
18-14769348-T-A
|
p.Val411Glu |
missense |
ANKRD30B |
9 |
78122 |
1.15204E-4 |
39061 |
0 |
9.55049E-5 |
18-14769363-C-T
|
p.Pro416Leu |
missense |
ANKRD30B |
1 |
78222 |
1.27841E-5 |
39111 |
0 |
1.4828E-4 |
18-14769379-CTT-C
|
c.1256+8_1256+9delTT |
splice_region |
ANKRD30B |
1 |
78190 |
1.27894E-5 |
39095 |
0 |
3.18613E-5 |
18-14772164-C-T
|
p.Gly422Gly |
synonymous |
ANKRD30B |
3 |
77728 |
3.85961E-5 |
38864 |
0 |
3.1904E-5 |
18-14772169-G-A
|
p.Arg424Gln |
missense |
ANKRD30B |
2 |
77616 |
2.57679E-5 |
38808 |
0 |
4.51182E-5 |
18-14772170-G-A
|
p.Arg424Arg |
synonymous |
ANKRD30B |
4 |
77682 |
5.1492E-5 |
38841 |
0 |
1.38251E-5 |
18-14772172-C-G
|
p.Thr425Ser |
missense |
ANKRD30B |
1 |
77632 |
1.28813E-5 |
38816 |
0 |
NA |
18-14772175-T-C
|
p.Ile426Thr |
missense |
ANKRD30B |
181 |
77744 |
0.00232815 |
38872 |
1 |
0.0028353 |
18-14772176-T-C
|
p.Ile426Ile |
synonymous |
ANKRD30B |
44 |
77776 |
5.65727E-4 |
38888 |
1 |
0.00251256 |
18-14772189-T-C
|
p.Cys431Arg |
missense |
ANKRD30B |
1 |
77876 |
1.28409E-5 |
38938 |
0 |
3.18654E-5 |
18-14772191-T-C
|
p.Cys431Cys |
synonymous |
ANKRD30B |
2 |
77928 |
2.56647E-5 |
38964 |
0 |
NA |
18-14772209-C-G
|
p.Asp437Glu |
missense |
ANKRD30B |
8 |
77784 |
1.02849E-4 |
38892 |
0 |
6.91974E-6 |
18-14772214-A-G
|
p.Asn439Ser |
missense |
ANKRD30B |
1 |
77652 |
1.2878E-5 |
38826 |
0 |
NA |
18-14772221-T-C
|
p.Ala441Ala |
synonymous |
ANKRD30B |
1 |
77502 |
1.29029E-5 |
38751 |
0 |
NA |
18-14772229-TAA-T
|
c.1329+3_1329+4delAA |
splice_region |
ANKRD30B |
1 |
77352 |
1.29279E-5 |
38676 |
0 |
NA |
18-14772234-T-C
|
c.1329+7T>C |
splice_region |
ANKRD30B |
1 |
77236 |
1.29473E-5 |
38618 |
0 |
3.18654E-5 |
18-14777984-A-G
|
p.Ile444Val |
missense+splice_region |
ANKRD30B |
1 |
79458 |
1.25853E-5 |
39729 |
0 |
6.67619E-6 |
18-14777986-T-C
|
p.Ile444Ile |
splice_region+synonymous |
ANKRD30B |
1 |
79464 |
1.25843E-5 |
39732 |
0 |
NA |
18-14777997-G-A
|
p.Ser448Asn |
missense |
ANKRD30B |
1 |
79602 |
1.25625E-5 |
39801 |
0 |
NA |
18-14777997-G-T
|
p.Ser448Ile |
missense |
ANKRD30B |
2 |
79602 |
2.5125E-5 |
39801 |
0 |
1.29249E-5 |
18-14778002-G-A
|
p.Ala450Thr |
missense |
ANKRD30B |
2 |
79644 |
2.51117E-5 |
39822 |
0 |
1.93199E-5 |
18-14778014-A-T
|
p.Thr454Ser |
missense |
ANKRD30B |
1 |
79704 |
1.25464E-5 |
39852 |
0 |
NA |
18-14778015-C-T
|
p.Thr454Met |
missense |
ANKRD30B |
6 |
79670 |
7.53107E-5 |
39835 |
0 |
6.25E-4 |
18-14778016-G-GTGTT
|
p.Pro457fs |
frameshift |
ANKRD30B |
3 |
79684 |
3.76487E-5 |
39842 |
0 |
NA |
18-14778016-G-A
|
p.Thr454Thr |
synonymous |
ANKRD30B |
2 |
79682 |
2.50998E-5 |
39841 |
0 |
3.20607E-5 |
18-14778034-A-T
|
p.Thr460Thr |
synonymous |
ANKRD30B |
1 |
79716 |
1.25445E-5 |
39858 |
0 |
NA |
18-14778034-A-G
|
p.Thr460Thr |
synonymous |
ANKRD30B |
1 |
79716 |
1.25445E-5 |
39858 |
0 |
NA |
18-14778037-T-A
|
p.Tyr461* |
stop_gained |
ANKRD30B |
1 |
79690 |
1.25486E-5 |
39845 |
0 |
NA |
18-14778068-A-G
|
p.Ile472Val |
missense |
ANKRD30B |
3 |
79356 |
3.78043E-5 |
39678 |
0 |
NA |
18-14778080-A-T
|
c.1420+6A>T |
splice_region |
ANKRD30B |
13 |
79030 |
1.64495E-4 |
39515 |
0 |
1.91046E-4 |
18-14779951-A-AT
|
c.1421-8_1421-7insT |
splice_region |
ANKRD30B |
1 |
79570 |
1.25676E-5 |
39785 |
0 |
NA |
18-14779958-G-A
|
c.1421-1G>A |
splice_acceptor |
ANKRD30B |
1 |
79662 |
1.2553E-5 |
39831 |
0 |
1.70745E-5 |
18-14779969-C-G
|
p.Phe477Leu |
missense |
ANKRD30B |
40361 |
79252 |
0.509274 |
39626 |
10339 |
0.468334 |
18-14779975-A-G
|
p.Ser479Ser |
synonymous |
ANKRD30B |
2 |
79918 |
2.50257E-5 |
39959 |
0 |
8.36106E-6 |
18-14779983-A-T
|
p.Lys482Ile |
missense |
ANKRD30B |
1 |
79948 |
1.25081E-5 |
39974 |
0 |
NA |
18-14779985-C-T
|
p.Arg483* |
stop_gained |
ANKRD30B |
1 |
79906 |
1.25147E-5 |
39953 |
0 |
6.69624E-5 |
18-14779986-G-A
|
p.Arg483Gln |
missense |
ANKRD30B |
1 |
79896 |
1.25163E-5 |
39948 |
0 |
0.314833 |
18-14779989-A-G
|
p.Glu484Gly |
missense |
ANKRD30B |
1 |
79954 |
1.25072E-5 |
39977 |
0 |
4.05124E-6 |
18-14779995-A-T
|
p.Asp486Val |
missense |
ANKRD30B |
2 |
79912 |
2.50275E-5 |
39956 |
0 |
NA |
18-14780003-T-C
|
p.Tyr489His |
missense |
ANKRD30B |
6 |
79890 |
7.51033E-5 |
39945 |
0 |
7.55769E-5 |
18-14780007-C-T
|
p.Ser490Phe |
missense |
ANKRD30B |
4 |
79892 |
5.00676E-5 |
39946 |
0 |
7.06262E-4 |
18-14782527-G-A
|
p.Ser495Asn |
missense+splice_region |
ANKRD30B |
1 |
78874 |
1.26784E-5 |
39437 |
0 |
NA |
18-14782531-CTT-C
|
p.Phe497fs |
frameshift |
ANKRD30B |
1 |
79152 |
1.26339E-5 |
39576 |
0 |
NA |
18-14782537-G-C
|
p.Glu498Asp |
missense |
ANKRD30B |
1 |
79258 |
1.2617E-5 |
39629 |
0 |
NA |
18-14782539-G-A
|
p.Ser499Asn |
missense |
ANKRD30B |
6 |
79306 |
7.56563E-5 |
39653 |
0 |
3.84497E-5 |
18-14782550-A-G
|
p.Thr503Ala |
missense |
ANKRD30B |
2 |
79444 |
2.5175E-5 |
39722 |
0 |
1.30022E-5 |
18-14782574-A-G
|
p.Met511Val |
missense |
ANKRD30B |
1 |
79186 |
1.26285E-5 |
39593 |
0 |
NA |
18-14782594-GATAA-G
|
p.Asn519fs |
frameshift |
ANKRD30B |
6 |
79034 |
7.59167E-5 |
39517 |
0 |
5.25045E-5 |
18-14782599-A-G
|
p.Asn519Ser |
missense |
ANKRD30B |
4 |
78962 |
5.06573E-5 |
39481 |
0 |
NA |
18-14782607-G-C
|
p.Val522Leu |
missense |
ANKRD30B |
3 |
78750 |
3.80952E-5 |
39375 |
0 |
NA |
18-14782607-G-T
|
p.Val522Leu |
missense |
ANKRD30B |
4 |
78750 |
5.07936E-5 |
39375 |
0 |
1.01438E-5 |
18-14784341-C-T
|
p.Pro526Leu |
missense |
ANKRD30B |
1 |
80498 |
1.24227E-5 |
40249 |
0 |
8.58974E-6 |
18-14784342-T-C
|
p.Pro526Pro |
synonymous |
ANKRD30B |
2 |
80496 |
2.4846E-5 |
40248 |
0 |
3.18552E-5 |
18-14784348-G-T
|
p.Lys528Asn |
missense |
ANKRD30B |
2 |
80476 |
2.48521E-5 |
40238 |
0 |
9.55597E-5 |
18-14784349-C-T
|
p.Pro529Ser |
missense |
ANKRD30B |
1 |
80466 |
1.24276E-5 |
40233 |
0 |
6.25E-4 |
18-14784360-C-T
|
p.Phe532Phe |
synonymous |
ANKRD30B |
47 |
80446 |
5.84243E-4 |
40223 |
0 |
6.03102E-4 |
18-14784363-G-A
|
p.Lys533Lys |
splice_region+synonymous |
ANKRD30B |
1 |
80414 |
1.24356E-5 |
40207 |
0 |
NA |
18-14784364-GTATT-G
|
c.1599+2_1599+5delTATT |
splice_donor |
ANKRD30B |
1 |
80404 |
1.24372E-5 |
40202 |
0 |
NA |
18-14784467-C-T
|
p.Ala535Ala |
synonymous |
ANKRD30B |
36 |
79454 |
4.53092E-4 |
39727 |
0 |
4.17728E-4 |
18-14784468-G-A
|
p.Val536Ile |
missense |
ANKRD30B |
39 |
79442 |
4.90924E-4 |
39721 |
0 |
0.00149428 |
18-14784478-A-G
|
p.Gln539Arg |
missense |
ANKRD30B |
2 |
79426 |
2.51807E-5 |
39713 |
0 |
NA |
18-14784481-A-C
|
p.Lys540Thr |
missense |
ANKRD30B |
2 |
79428 |
2.518E-5 |
39714 |
0 |
4.01648E-6 |
18-14784482-G-T
|
p.Lys540Asn |
missense |
ANKRD30B |
2 |
79428 |
2.518E-5 |
39714 |
0 |
9.99334E-5 |
18-14784502-T-C
|
p.Phe547Ser |
missense |
ANKRD30B |
1 |
79392 |
1.25957E-5 |
39696 |
0 |
NA |
18-14784515-T-C
|
p.Asn551Asn |
synonymous |
ANKRD30B |
3 |
79370 |
3.77977E-5 |
39685 |
0 |
3.33706E-5 |
18-14784522-A-G
|
p.Thr554Ala |
missense |
ANKRD30B |
1 |
79354 |
1.26018E-5 |
39677 |
0 |
NA |
18-14784524-A-G
|
p.Thr554Thr |
synonymous |
ANKRD30B |
1 |
79340 |
1.2604E-5 |
39670 |
0 |
4.02075E-6 |
18-14784527-G-A
|
p.Leu555Leu |
synonymous |
ANKRD30B |
2 |
79342 |
2.52073E-5 |
39671 |
0 |
NA |
18-14784531-G-A
|
p.Ala557Thr |
missense |
ANKRD30B |
2 |
79320 |
2.52143E-5 |
39660 |
0 |
3.18613E-5 |
18-14784532-C-A
|
p.Ala557Glu |
missense+splice_region |
ANKRD30B |
1 |
79318 |
1.26075E-5 |
39659 |
0 |
NA |
18-14787045-G-A
|
p.Met560Ile |
missense |
ANKRD30B |
1 |
79962 |
1.25059E-5 |
39981 |
0 |
6.25E-4 |
18-14787050-C-G
|
p.Pro562Arg |
missense |
ANKRD30B |
1 |
79990 |
1.25016E-5 |
39995 |
0 |
NA |
18-14787060-C-T
|
p.Ser565Ser |
synonymous |
ANKRD30B |
4 |
79980 |
5.00125E-5 |
39990 |
0 |
3.18735E-5 |
18-14787070-G-T
|
p.Asp569Tyr |
missense |
ANKRD30B |
1 |
79978 |
1.25034E-5 |
39989 |
0 |
8.47788E-6 |
18-14787072-C-T
|
p.Asp569Asp |
synonymous |
ANKRD30B |
7 |
79926 |
8.7581E-5 |
39963 |
0 |
6.25E-4 |
18-14787073-G-A
|
p.Asp570Asn |
missense |
ANKRD30B |
5 |
79958 |
6.25328E-5 |
39979 |
0 |
6.04137E-5 |
18-14787075-T-C
|
p.Asp570Asp |
synonymous |
ANKRD30B |
1 |
79996 |
1.25006E-5 |
39998 |
0 |
3.1839E-5 |
18-14787099-G-A
|
p.Glu578Glu |
splice_region+synonymous |
ANKRD30B |
1 |
79956 |
1.25069E-5 |
39978 |
0 |
4.04433E-6 |
18-14787101-T-A
|
c.1734+2T>A |
splice_donor |
ANKRD30B |
2 |
79976 |
2.50075E-5 |
39988 |
0 |
1.72384E-5 |
18-14787102-A-C
|
c.1734+3A>C |
splice_region |
ANKRD30B |
4 |
79932 |
5.00425E-5 |
39966 |
0 |
8.14047E-6 |
18-14791397-C-T
|
c.1735-3C>T |
splice_region |
ANKRD30B |
1 |
79498 |
1.25789E-5 |
39749 |
0 |
3.18654E-5 |
18-14791411-G-C
|
p.Glu582Asp |
missense |
ANKRD30B |
1 |
79886 |
1.25178E-5 |
39943 |
0 |
9.55718E-5 |
18-14791413-C-T
|
p.Thr583Met |
missense |
ANKRD30B |
13 |
79880 |
1.62744E-4 |
39940 |
0 |
5.10204E-4 |
18-14791414-G-A
|
p.Thr583Thr |
synonymous |
ANKRD30B |
2 |
79954 |
2.50144E-5 |
39977 |
0 |
8.37325E-6 |
18-14791415-G-A
|
p.Val584Ile |
missense |
ANKRD30B |
1 |
80000 |
1.25E-5 |
40000 |
0 |
NA |
18-14791425-A-C
|
p.Lys587Thr |
missense |
ANKRD30B |
1 |
80164 |
1.24744E-5 |
40082 |
0 |
8.1316E-6 |
18-14791430-G-A
|
p.Val589Met |
missense |
ANKRD30B |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
4.04944E-6 |
18-14791431-T-C
|
p.Val589Ala |
missense |
ANKRD30B |
1 |
80222 |
1.24654E-5 |
40111 |
0 |
NA |
18-14791432-G-A
|
p.Val589Val |
synonymous |
ANKRD30B |
1 |
80226 |
1.24648E-5 |
40113 |
0 |
8.35869E-6 |
18-14791446-C-T
|
p.Ala594Val |
missense |
ANKRD30B |
9 |
80344 |
1.12018E-4 |
40172 |
0 |
6.87408E-5 |
18-14791446-C-G
|
p.Ala594Gly |
missense |
ANKRD30B |
1 |
80344 |
1.24465E-5 |
40172 |
0 |
NA |
18-14791450-A-T
|
p.Thr595Thr |
synonymous |
ANKRD30B |
1 |
80364 |
1.24434E-5 |
40182 |
0 |
NA |
18-14791451-C-T
|
p.His596Tyr |
missense |
ANKRD30B |
3 |
80376 |
3.73246E-5 |
40188 |
0 |
NA |
18-14791452-A-G
|
p.His596Arg |
missense |
ANKRD30B |
1 |
80364 |
1.24434E-5 |
40182 |
0 |
4.04632E-6 |
18-14791453-T-G
|
p.His596Gln |
missense |
ANKRD30B |
2 |
80346 |
2.48923E-5 |
40173 |
0 |
3.18552E-5 |
18-14791456-A-G
|
p.Gln597Gln |
synonymous |
ANKRD30B |
2 |
80362 |
2.48874E-5 |
40181 |
0 |
3.18431E-5 |
18-14791460-G-T
|
p.Glu599* |
stop_gained |
ANKRD30B |
4 |
80354 |
4.97797E-5 |
40177 |
0 |
3.10496E-4 |
18-14791465-C-A
|
p.Phe600Leu |
missense |
ANKRD30B |
46 |
80324 |
5.72681E-4 |
40162 |
0 |
3.28643E-4 |
18-14791465-C-T
|
p.Phe600Phe |
synonymous |
ANKRD30B |
7 |
80326 |
8.71449E-5 |
40163 |
0 |
6.49171E-5 |
18-14791466-G-A
|
p.Asp601Asn |
missense |
ANKRD30B |
3 |
80322 |
3.73497E-5 |
40161 |
0 |
5.06073E-4 |
18-14791466-G-C
|
p.Asp601His |
missense |
ANKRD30B |
1 |
80322 |
1.24499E-5 |
40161 |
0 |
4.06729E-6 |
18-14791468-T-C
|
p.Asp601Asp |
synonymous |
ANKRD30B |
2 |
80294 |
2.49085E-5 |
40147 |
0 |
2.52751E-5 |
18-14791470-C-A
|
p.Thr602Asn |
missense |
ANKRD30B |
1 |
80318 |
1.24505E-5 |
40159 |
0 |
3.18959E-5 |
18-14791475-A-C
|
p.Ser604Arg |
missense |
ANKRD30B |
3 |
80312 |
3.73543E-5 |
40156 |
0 |
3.18593E-5 |
18-14791477-T-C
|
p.Ser604Ser |
synonymous |
ANKRD30B |
1 |
80290 |
1.24549E-5 |
40145 |
0 |
1.23101E-5 |
18-14791484-T-C
|
p.Leu607Leu |
synonymous |
ANKRD30B |
3 |
80190 |
3.74111E-5 |
40095 |
0 |
NA |
18-14791491-G-C
|
c.1825+1G>C |
splice_donor |
ANKRD30B |
1 |
80088 |
1.24863E-5 |
40044 |
0 |
NA |
18-14791493-A-T
|
c.1825+3A>T |
splice_region |
ANKRD30B |
2 |
80030 |
2.49906E-5 |
40015 |
0 |
NA |
18-14791495-G-C
|
c.1825+5G>C |
splice_region |
ANKRD30B |
1 |
79970 |
1.25047E-5 |
39985 |
0 |
6.14887E-5 |
18-14791498-C-A
|
c.1825+8C>A |
splice_region |
ANKRD30B |
1 |
79864 |
1.25213E-5 |
39932 |
0 |
8.85692E-6 |
18-14796212-A-T
|
c.1826-8A>T |
splice_region |
ANKRD30B |
39 |
79126 |
4.92885E-4 |
39563 |
0 |
6.3743E-4 |
18-14796213-C-T
|
c.1826-7C>T |
splice_region |
ANKRD30B |
1 |
79136 |
1.26365E-5 |
39568 |
0 |
1.66744E-5 |
18-14796214-G-T
|
c.1826-6G>T |
splice_region |
ANKRD30B |
40004 |
75878 |
0.527215 |
37939 |
10546 |
0.579558 |
18-14796214-G-A
|
c.1826-6G>A |
splice_region |
ANKRD30B |
9 |
79142 |
1.1372E-4 |
39571 |
0 |
9.58528E-5 |
18-14796219-G-A
|
c.1826-1G>A |
splice_acceptor |
ANKRD30B |
1 |
79162 |
1.26323E-5 |
39581 |
0 |
NA |
18-14796222-T-A
|
p.Ser610Thr |
missense+splice_region |
ANKRD30B |
50 |
79184 |
6.31441E-4 |
39592 |
0 |
9.87702E-4 |
18-14796225-C-T
|
p.Pro611Ser |
missense |
ANKRD30B |
1 |
79198 |
1.26266E-5 |
39599 |
0 |
NA |
18-14796229-T-A
|
p.Val612Asp |
missense |
ANKRD30B |
4 |
79200 |
5.05051E-5 |
39600 |
0 |
4.02544E-5 |
18-14796235-A-C
|
p.Asp614Ala |
missense |
ANKRD30B |
1 |
79220 |
1.26231E-5 |
39610 |
0 |
NA |
18-14796236-T-C
|
p.Asp614Asp |
synonymous |
ANKRD30B |
183 |
79216 |
0.00231014 |
39608 |
0 |
0.00429975 |
18-14796238-G-T
|
p.Gly615Val |
missense |
ANKRD30B |
2 |
79208 |
2.525E-5 |
39604 |
0 |
4.02405E-6 |
18-14796255-AC-A
|
c.1854+8delC |
splice_region |
ANKRD30B |
3 |
79270 |
3.78453E-5 |
39635 |
0 |
3.18735E-5 |
18-14796256-C-A
|
c.1854+8C>A |
splice_region |
ANKRD30B |
1 |
79270 |
1.26151E-5 |
39635 |
0 |
NA |
18-14796334-C-A
|
c.1855-8C>A |
splice_region |
ANKRD30B |
442 |
79238 |
0.00557813 |
39619 |
8 |
0.0116294 |
18-14796335-C-T
|
c.1855-7C>T |
splice_region |
ANKRD30B |
1 |
79248 |
1.26186E-5 |
39624 |
0 |
4.54244E-6 |
18-14796347-C-T
|
p.Thr620Thr |
synonymous |
ANKRD30B |
15 |
79142 |
1.89533E-4 |
39571 |
0 |
6.45995E-4 |
18-14796352-G-T
|
p.Gly622Val |
missense |
ANKRD30B |
2 |
79052 |
2.52998E-5 |
39526 |
0 |
2.2008E-5 |
18-14796360-G-A
|
p.Val625Ile |
missense |
ANKRD30B |
1 |
78928 |
1.26698E-5 |
39464 |
0 |
5.07769E-5 |
18-14796360-G-T
|
p.Val625Phe |
missense |
ANKRD30B |
2 |
78928 |
2.53396E-5 |
39464 |
0 |
NA |
18-14796363-T-C
|
p.Ser626Pro |
missense |
ANKRD30B |
1 |
78878 |
1.26778E-5 |
39439 |
0 |
NA |
18-14796374-T-C
|
p.Ter620Glnext*? |
stop_lost |
ANKRD30B |
2 |
78674 |
2.54214E-5 |
39337 |
0 |
5.79354E-6 |
18-14796383-AG-A
|
p.Glu633fs |
frameshift |
ANKRD30B |
1 |
78594 |
1.27236E-5 |
39297 |
0 |
1.05315E-4 |
18-14796385-A-T
|
p.Glu633Val |
missense |
ANKRD30B |
1 |
78560 |
1.27291E-5 |
39280 |
0 |
1.06353E-4 |
18-14796401-A-G
|
p.Glu638Glu |
synonymous |
ANKRD30B |
1 |
78420 |
1.27518E-5 |
39210 |
0 |
NA |
18-14796403-C-T
|
p.Thr639Ile |
missense |
ANKRD30B |
1 |
78408 |
1.27538E-5 |
39204 |
0 |
NA |
18-14796404-A-T
|
p.Thr639Thr |
synonymous |
ANKRD30B |
74 |
78398 |
9.43902E-4 |
39199 |
0 |
0.00120965 |
18-14796405-T-C
|
p.Phe640Leu |
missense |
ANKRD30B |
7 |
78392 |
8.92948E-5 |
39196 |
0 |
0.00126263 |
18-14796416-T-C
|
c.1927+2T>C |
splice_donor |
ANKRD30B |
1 |
78242 |
1.27809E-5 |
39121 |
0 |
NA |
18-14796418-A-C
|
c.1927+4A>C |
splice_region |
ANKRD30B |
118 |
78210 |
0.00150876 |
39105 |
1 |
0.00194488 |
18-14797660-A-G
|
p.Glu643Gly |
missense+splice_region |
ANKRD30B |
1 |
79168 |
1.26314E-5 |
39584 |
0 |
NA |
18-14797665-C-T
|
p.Pro645Ser |
missense |
ANKRD30B |
2 |
79200 |
2.52525E-5 |
39600 |
0 |
NA |
18-14797673-A-T
|
p.Lys647Asn |
missense |
ANKRD30B |
4 |
79232 |
5.04847E-5 |
39616 |
0 |
5.63961E-5 |
18-14797680-C-G
|
p.Leu650Val |
missense |
ANKRD30B |
5 |
79252 |
6.30899E-5 |
39626 |
0 |
1.72625E-5 |
18-14797688-G-A
|
p.Lys652Lys |
splice_region+synonymous |
ANKRD30B |
1 |
79260 |
1.26167E-5 |
39630 |
0 |
NA |
18-14797689-G-A
|
c.1956+1G>A |
splice_donor |
ANKRD30B |
2 |
79258 |
2.5234E-5 |
39629 |
0 |
1.74599E-5 |
18-14797692-A-G
|
c.1956+4A>G |
splice_region |
ANKRD30B |
1 |
79290 |
1.26119E-5 |
39645 |
0 |
NA |
18-14797773-C-A
|
c.1957-8C>A |
splice_region |
ANKRD30B |
1 |
79250 |
1.26183E-5 |
39625 |
0 |
5.5433E-6 |
18-14797776-T-C
|
c.1957-5T>C |
splice_region |
ANKRD30B |
1 |
79228 |
1.26218E-5 |
39614 |
0 |
4.19088E-4 |
18-14797786-C-A
|
p.Thr654Thr |
synonymous |
ANKRD30B |
1 |
79076 |
1.26461E-5 |
39538 |
0 |
NA |
18-14797786-C-T
|
p.Thr654Thr |
synonymous |
ANKRD30B |
1 |
79078 |
1.26457E-5 |
39539 |
0 |
NA |
18-14797788-G-T
|
p.Cys655Phe |
missense |
ANKRD30B |
1 |
79018 |
1.26553E-5 |
39509 |
0 |
NA |
18-14797788-G-A
|
p.Cys655Tyr |
missense |
ANKRD30B |
4 |
79012 |
5.06252E-5 |
39506 |
0 |
2.36658E-5 |
18-14797791-G-T
|
p.Gly656Val |
missense |
ANKRD30B |
12 |
78974 |
1.51949E-4 |
39487 |
0 |
2.82805E-4 |
18-14797794-G-A
|
p.Arg657Lys |
missense |
ANKRD30B |
2 |
78922 |
2.53415E-5 |
39461 |
0 |
NA |
18-14797795-G-A
|
p.Arg657Arg |
synonymous |
ANKRD30B |
1 |
78918 |
1.26714E-5 |
39459 |
0 |
1.33341E-4 |
18-14797807-T-C
|
p.Leu661Leu |
synonymous |
ANKRD30B |
4 |
78784 |
5.07717E-5 |
39392 |
0 |
1.27405E-4 |
18-14797814-A-G
|
p.Lys664Glu |
missense |
ANKRD30B |
1 |
78684 |
1.27091E-5 |
39342 |
0 |
4.16146E-5 |
18-14797818-C-A
|
p.Ala665Asp |
missense |
ANKRD30B |
1 |
78646 |
1.27152E-5 |
39323 |
0 |
NA |
18-14797819-C-G
|
p.Ala665Ala |
synonymous |
ANKRD30B |
1 |
78638 |
1.27165E-5 |
39319 |
0 |
3.18573E-5 |
18-14797823-G-T
|
p.Glu667* |
stop_gained |
ANKRD30B |
8 |
78600 |
1.01781E-4 |
39300 |
0 |
0.0010211 |
18-14797837-A-C
|
p.Arg671Ser |
missense |
ANKRD30B |
7 |
78470 |
8.92061E-5 |
39235 |
0 |
6.3674E-5 |
18-14797842-C-A
|
p.Thr673Lys |
missense |
ANKRD30B |
1 |
78426 |
1.27509E-5 |
39213 |
0 |
NA |
18-14797843-A-G
|
p.Thr673Thr |
synonymous |
ANKRD30B |
1 |
78408 |
1.27538E-5 |
39204 |
0 |
6.40558E-6 |
18-14797854-G-T
|
c.2029+1G>T |
splice_donor |
ANKRD30B |
1 |
78268 |
1.27766E-5 |
39134 |
0 |
1.97057E-5 |
18-14797857-C-A
|
c.2029+4C>A |
splice_region |
ANKRD30B |
35 |
78192 |
4.47616E-4 |
39096 |
1 |
4.45973E-4 |
18-14797857-C-T
|
c.2029+4C>T |
splice_region |
ANKRD30B |
13 |
78196 |
1.66249E-4 |
39098 |
0 |
7.4184E-4 |
18-14799113-T-A
|
p.Asn681Lys |
missense |
ANKRD30B |
20 |
78204 |
2.55741E-4 |
39102 |
0 |
4.00748E-4 |
18-14799115-A-G
|
p.Asp682Gly |
missense |
ANKRD30B |
2 |
78338 |
2.55304E-5 |
39169 |
0 |
8.05075E-6 |
18-14799120-C-T
|
p.Leu684Phe |
missense |
ANKRD30B |
2 |
78356 |
2.55245E-5 |
39178 |
0 |
3.18674E-5 |
18-14799204-GTTTCCAAACCCATTTAGCCTACC-G
|
p.Pro687_Cys689del |
splice_acceptor |
ANKRD30B |
1 |
78322 |
1.27678E-5 |
39161 |
0 |
3.18979E-5 |
18-14799216-A-C
|
c.2059-6A>C |
splice_region |
ANKRD30B |
1 |
78322 |
1.27678E-5 |
39161 |
0 |
3.18634E-5 |
18-14799218-T-G
|
c.2059-4T>G |
splice_region |
ANKRD30B |
3 |
78322 |
3.83034E-5 |
39161 |
0 |
3.98565E-5 |
18-14799221-G-GC
|
p.Thr688fs |
frameshift |
ANKRD30B |
5 |
78332 |
6.38309E-5 |
39166 |
0 |
NA |
18-14799224-T-TTA
|
p.Thr688fs |
frameshift |
ANKRD30B |
5 |
78318 |
6.38423E-5 |
39159 |
0 |
NA |
18-14799230-T-A
|
p.Cys689* |
stop_gained |
ANKRD30B |
1 |
78322 |
1.27678E-5 |
39161 |
0 |
NA |
18-14799231-G-A
|
p.Gly690Arg |
missense |
ANKRD30B |
1 |
78320 |
1.27681E-5 |
39160 |
0 |
NA |
18-14799232-G-T
|
p.Gly690Val |
missense |
ANKRD30B |
2 |
78312 |
2.55389E-5 |
39156 |
0 |
4.83673E-5 |
18-14799233-A-AC
|
p.Arg691fs |
frameshift |
ANKRD30B |
1 |
78322 |
1.27678E-5 |
39161 |
0 |
3.18613E-5 |
18-14799238-A-C
|
p.Lys692Thr |
missense |
ANKRD30B |
1 |
78300 |
1.27714E-5 |
39150 |
0 |
3.18613E-5 |
18-14799240-G-T
|
p.Val693Phe |
missense |
ANKRD30B |
22 |
78284 |
2.81028E-4 |
39142 |
0 |
0.00121181 |
18-14799240-G-C
|
p.Val693Leu |
missense |
ANKRD30B |
1 |
78288 |
1.27734E-5 |
39144 |
0 |
NA |
18-14799244-C-A
|
p.Ser694Tyr |
missense |
ANKRD30B |
1 |
78268 |
1.27766E-5 |
39134 |
0 |
NA |
18-14799247-T-C
|
p.Leu695Pro |
missense |
ANKRD30B |
1 |
78266 |
1.27769E-5 |
39133 |
0 |
5.93296E-5 |
18-14799249-C-T
|
p.Pro696Ser |
missense |
ANKRD30B |
57 |
78252 |
7.28416E-4 |
39126 |
0 |
6.41026E-4 |
18-14799260-T-C
|
p.Ala699Ala |
synonymous |
ANKRD30B |
3 |
78216 |
3.83553E-5 |
39108 |
0 |
3.37633E-5 |
18-14799273-G-A
|
p.Asp704Asn |
missense |
ANKRD30B |
1 |
78104 |
1.28034E-5 |
39052 |
0 |
NA |
18-14799287-C-G
|
p.Phe708Leu |
missense |
ANKRD30B |
5 |
78012 |
6.40927E-5 |
39006 |
0 |
2.05541E-4 |
18-14799287-C-A
|
p.Phe708Leu |
missense |
ANKRD30B |
3 |
78010 |
3.84566E-5 |
39005 |
0 |
3.18959E-5 |
18-14799292-CA-C
|
p.Ala711fs |
frameshift |
ANKRD30B |
1 |
77986 |
1.28228E-5 |
38993 |
0 |
NA |
18-14799299-A-T
|
c.2131+5A>T |
splice_region |
ANKRD30B |
2 |
77874 |
2.56825E-5 |
38937 |
0 |
NA |
18-14799300-T-C
|
c.2131+6T>C |
splice_region |
ANKRD30B |
2 |
77858 |
2.56878E-5 |
38929 |
0 |
5.36431E-5 |
18-14803730-C-T
|
c.2194-3C>T |
splice_region |
ANKRD30B |
2 |
77454 |
2.58218E-5 |
38727 |
0 |
4.37974E-6 |
18-14803745-A-G
|
p.Thr736Ala |
missense |
ANKRD30B |
14 |
77342 |
1.81014E-4 |
38671 |
0 |
0.0379581 |
18-14803745-ACT-A
|
p.Leu738fs |
frameshift |
ANKRD30B |
1 |
77680 |
1.28733E-5 |
38840 |
0 |
1.42098E-5 |
18-14803757-A-T
|
p.Asn740Tyr |
missense |
ANKRD30B |
2 |
77638 |
2.57606E-5 |
38819 |
1 |
NA |
18-14803765-G-A
|
p.Val742Val |
synonymous |
ANKRD30B |
1 |
77550 |
1.28949E-5 |
38775 |
0 |
NA |
18-14803781-A-G
|
p.Thr748Ala |
missense |
ANKRD30B |
1 |
77308 |
1.29353E-5 |
38654 |
0 |
9.86368E-6 |
18-14803798-C-T
|
p.Phe753Phe |
synonymous |
ANKRD30B |
3 |
76984 |
3.89691E-5 |
38492 |
0 |
6.48172E-5 |
18-14808542-T-A
|
c.2285-8T>A |
splice_region |
ANKRD30B |
572 |
77446 |
0.00738579 |
38723 |
36 |
0.017796 |
18-14808554-T-C
|
p.Ser763Ser |
synonymous |
ANKRD30B |
2 |
77760 |
2.57202E-5 |
38880 |
0 |
1.88512E-5 |
18-14808556-C-T
|
p.Pro764Leu |
missense |
ANKRD30B |
18 |
77812 |
2.31327E-4 |
38906 |
0 |
1.06991E-4 |
18-14808557-T-C
|
p.Pro764Pro |
synonymous |
ANKRD30B |
2 |
77846 |
2.56918E-5 |
38923 |
0 |
1.4061E-4 |
18-14808558-G-A
|
p.Asp765Asn |
missense |
ANKRD30B |
13 |
77850 |
1.66988E-4 |
38925 |
1 |
4.85343E-4 |
18-14808559-A-T
|
p.Asp765Val |
missense |
ANKRD30B |
2 |
77850 |
2.56904E-5 |
38925 |
0 |
1.29257E-4 |
18-14808559-A-G
|
p.Asp765Gly |
missense |
ANKRD30B |
1 |
77850 |
1.28452E-5 |
38925 |
0 |
NA |
18-14808560-T-A
|
p.Asp765Glu |
missense |
ANKRD30B |
49 |
77860 |
6.29335E-4 |
38930 |
3 |
0.00109784 |
18-14808567-G-T
|
p.Gly768Cys |
missense |
ANKRD30B |
1 |
77890 |
1.28386E-5 |
38945 |
0 |
NA |
18-14808570-C-T
|
p.Leu769Phe |
missense |
ANKRD30B |
1 |
77954 |
1.28281E-5 |
38977 |
0 |
NA |
18-14808572-T-G
|
p.Leu769Leu |
synonymous |
ANKRD30B |
9 |
77976 |
1.1542E-4 |
38988 |
0 |
5.48812E-4 |
18-14808579-G-A
|
c.2313+1G>A |
splice_donor |
ANKRD30B |
3 |
78046 |
3.84389E-5 |
39023 |
0 |
3.72787E-5 |
18-14808583-T-C
|
c.2313+5T>C |
splice_region |
ANKRD30B |
3 |
78088 |
3.84182E-5 |
39044 |
0 |
3.23018E-5 |
18-14808584-T-C
|
c.2313+6T>C |
splice_region |
ANKRD30B |
7 |
78092 |
8.96379E-5 |
39046 |
0 |
2.8169E-5 |
18-14808666-T-A
|
n.375-5T>A |
splice_region |
ANKRD30B |
1 |
77776 |
1.28574E-5 |
38888 |
0 |
NA |
18-14808670-G-A
|
n.375-1G>A |
splice_acceptor |
ANKRD30B |
1 |
77782 |
1.28564E-5 |
38891 |
0 |
NA |
18-14808741-C-T
|
c.*495C>T |
splice_region |
ANKRD30B |
1 |
76586 |
1.30572E-5 |
38293 |
0 |
NA |
18-14808747-A-C
|
c.*497+4A>C |
splice_region |
ANKRD30B |
486 |
75858 |
0.00640671 |
37929 |
27 |
0.0167021 |
18-14808750-T-A
|
c.*497+7T>A |
splice_region |
ANKRD30B |
1 |
76266 |
1.3112E-5 |
38133 |
0 |
NA |
18-14809978-C-T
|
c.*498-7C>T |
splice_region |
ANKRD30B |
1 |
76680 |
1.30412E-5 |
38340 |
0 |
NA |
18-14810016-A-T
|
c.*526+3A>T |
splice_region |
ANKRD30B |
2 |
76800 |
2.60417E-5 |
38400 |
1 |
1.73271E-5 |
18-14810099-C-A
|
c.*527-8C>A |
splice_region |
ANKRD30B |
1 |
76172 |
1.31282E-5 |
38086 |
0 |
1.25982E-4 |
18-14810106-G-C
|
c.*527-1G>C |
splice_acceptor |
ANKRD30B |
12 |
76056 |
1.57778E-4 |
38028 |
1 |
4.81116E-5 |
18-14810177-C-A
|
c.*597C>A |
splice_region |
ANKRD30B |
4 |
73418 |
5.44826E-5 |
36709 |
0 |
2.77444E-4 |
18-14810178-A-C
|
c.*598A>C |
splice_region |
ANKRD30B |
132 |
73252 |
0.001802 |
36626 |
6 |
0.00131587 |
18-14810185-CTT-C
|
c.*599+7_*599+8delTT |
splice_region |
ANKRD30B |
4 |
72434 |
5.52227E-5 |
36217 |
1 |
1.28684E-4 |
18-14810185-C-T
|
c.*599+6C>T |
splice_region |
ANKRD30B |
6 |
72432 |
8.28363E-5 |
36216 |
0 |
3.04017E-4 |
18-14822596-C-A
|
c.2314-8C>A |
splice_region |
ANKRD30B |
1 |
70142 |
1.42568E-5 |
35071 |
0 |
NA |
18-14822610-T-C
|
p.Cys774Arg |
missense |
ANKRD30B |
3 |
70464 |
4.25749E-5 |
35232 |
0 |
1.29828E-4 |
18-14822616-A-G
|
p.Met776Val |
missense |
ANKRD30B |
6 |
70194 |
8.54774E-5 |
35097 |
0 |
8.75316E-4 |
18-14828274-T-C
|
c.2387-3T>C |
splice_region |
ANKRD30B |
2 |
77398 |
2.58405E-5 |
38699 |
0 |
2.07749E-4 |
18-14828279-G-A
|
p.Asp797Asn |
missense+splice_region |
ANKRD30B |
17 |
77434 |
2.19542E-4 |
38717 |
0 |
2.86533E-4 |
18-14828284-G-C
|
p.Val798Val |
synonymous |
ANKRD30B |
1 |
77480 |
1.29066E-5 |
38740 |
0 |
NA |
18-14828289-C-T
|
p.Ser800Phe |
missense |
ANKRD30B |
1 |
77490 |
1.29049E-5 |
38745 |
0 |
0.00131062 |
18-14828291-G-A
|
p.Val801Ile |
missense |
ANKRD30B |
12 |
77506 |
1.54827E-4 |
38753 |
0 |
3.50229E-4 |
18-14828291-G-T
|
p.Val801Leu |
missense |
ANKRD30B |
1 |
77506 |
1.29022E-5 |
38753 |
0 |
7.1622E-6 |
18-14828314-CTT-C
|
c.2417+8_2417+9delTT |
splice_region |
ANKRD30B |
2 |
77362 |
2.58525E-5 |
38681 |
0 |
1.2738E-4 |
18-14831395-C-T
|
p.Pro811Ser |
missense |
ANKRD30B |
1 |
78230 |
1.27828E-5 |
39115 |
0 |
NA |
18-14831396-C-T
|
p.Pro811Leu |
missense |
ANKRD30B |
5 |
78248 |
6.38994E-5 |
39124 |
0 |
4.90725E-5 |
18-14831398-A-C
|
p.Thr812Pro |
missense |
ANKRD30B |
1 |
78330 |
1.27665E-5 |
39165 |
0 |
NA |
18-14831420-C-T
|
p.Thr819Ile |
missense |
ANKRD30B |
1 |
78644 |
1.27155E-5 |
39322 |
0 |
NA |
18-14831422-A-G
|
p.Lys820Glu |
missense |
ANKRD30B |
56 |
78648 |
7.12033E-4 |
39324 |
0 |
0.00134091 |
18-14831448-T-C
|
p.Thr828Thr |
synonymous |
ANKRD30B |
619 |
78418 |
0.0078936 |
39209 |
8 |
0.0197889 |
18-14831449-A-G
|
p.Thr829Ala |
missense |
ANKRD30B |
3 |
78516 |
3.82088E-5 |
39258 |
0 |
NA |
18-14831450-C-T
|
p.Thr829Ile |
missense |
ANKRD30B |
1 |
78472 |
1.27434E-5 |
39236 |
0 |
NA |
18-14831451-C-T
|
p.Thr829Thr |
synonymous |
ANKRD30B |
251 |
78484 |
0.0031981 |
39242 |
5 |
0.0078524 |
18-14831452-A-G
|
p.Lys830Glu |
missense+splice_region |
ANKRD30B |
1 |
78478 |
1.27424E-5 |
39239 |
0 |
7.02583E-6 |
18-14831461-T-C
|
c.2490+7T>C |
splice_region |
ANKRD30B |
1 |
78264 |
1.27773E-5 |
39132 |
0 |
3.1904E-5 |
18-14837192-GTGTTT-G
|
c.2491-12_2491-8delTGTTT |
splice_region |
ANKRD30B |
1 |
77742 |
1.28631E-5 |
38871 |
0 |
NA |
18-14837210-G-T
|
p.Glu831* |
stop_gained |
ANKRD30B |
4 |
78292 |
5.10908E-5 |
39146 |
0 |
6.38121E-5 |
18-14837224-G-GACAGGA
|
p.Thr836_Val837insGlyThr |
disruptive_inframe_insertion |
ANKRD30B |
28 |
78554 |
3.56443E-4 |
39277 |
0 |
3.54036E-4 |
18-14837229-T-C
|
p.Val837Ala |
missense |
ANKRD30B |
25 |
78582 |
3.18139E-4 |
39291 |
0 |
3.54072E-4 |
18-14837230-A-G
|
p.Val837Val |
synonymous |
ANKRD30B |
4 |
78610 |
5.08841E-5 |
39305 |
0 |
4.04654E-4 |
18-14837232-C-G
|
p.Thr838Ser |
missense |
ANKRD30B |
1 |
78606 |
1.27217E-5 |
39303 |
0 |
NA |
18-14837241-A-G
|
p.Gln841Arg |
missense |
ANKRD30B |
1 |
78682 |
1.27094E-5 |
39341 |
0 |
6.51483E-6 |
18-14837244-A-C
|
p.Glu842Ala |
missense |
ANKRD30B |
1 |
78692 |
1.27078E-5 |
39346 |
0 |
3.18735E-5 |
18-14837246-C-T
|
p.Arg843Cys |
missense |
ANKRD30B |
605 |
78618 |
0.00769544 |
39309 |
14 |
0.0185055 |
18-14837247-G-A
|
p.Arg843His |
missense |
ANKRD30B |
4 |
78670 |
5.08453E-5 |
39335 |
0 |
2.60726E-5 |
18-14837261-A-G
|
p.Ile848Val |
missense |
ANKRD30B |
1 |
78676 |
1.27104E-5 |
39338 |
0 |
1.30359E-5 |
18-14837263-T-C
|
p.Ile848Ile |
synonymous |
ANKRD30B |
1 |
78660 |
1.27129E-5 |
39330 |
0 |
NA |
18-14837264-G-C
|
p.Glu849Gln |
missense |
ANKRD30B |
1 |
78652 |
1.27142E-5 |
39326 |
0 |
NA |
18-14837267-C-T
|
p.Arg850* |
stop_gained |
ANKRD30B |
3 |
78594 |
3.81709E-5 |
39297 |
0 |
9.57793E-5 |
18-14837273-C-T
|
p.Pro852Ser |
missense |
ANKRD30B |
2 |
78588 |
2.54492E-5 |
39294 |
0 |
NA |
18-14837274-C-T
|
p.Pro852Leu |
missense |
ANKRD30B |
1 |
78590 |
1.27243E-5 |
39295 |
0 |
3.1902E-5 |
18-14837277-A-G
|
p.Gln853Arg |
missense |
ANKRD30B |
45 |
78598 |
5.72534E-4 |
39299 |
0 |
0.00311526 |
18-14837286-C-T
|
p.Thr856Ile |
missense+splice_region |
ANKRD30B |
2 |
78462 |
2.549E-5 |
39231 |
0 |
5.10048E-5 |
18-14837294-G-A
|
n.141+6G>A |
splice_region |
ANKRD30B |
8 |
78224 |
1.0227E-4 |
39112 |
0 |
1.02145E-4 |
18-14837613-G-C
|
n.142-1G>C |
splice_acceptor |
ANKRD30B |
1 |
75464 |
1.32514E-5 |
37732 |
0 |
NA |
18-14837636-A-G
|
p.Leu864Leu |
synonymous |
ANKRD30B |
1 |
76208 |
1.3122E-5 |
38104 |
0 |
5.72148E-5 |
18-14837678-A-G
|
n.203+3A>G |
splice_region |
ANKRD30B |
3 |
76082 |
3.94311E-5 |
38041 |
0 |
1.05285E-4 |
18-14840586-G-A
|
n.204-1G>A |
splice_acceptor |
ANKRD30B |
1 |
72618 |
1.37707E-5 |
36309 |
0 |
NA |
18-14840594-C-A
|
p.Ser880Tyr |
missense |
ANKRD30B |
9 |
74356 |
1.21039E-4 |
37178 |
0 |
6.37674E-5 |
18-14840602-G-C
|
p.Asp883His |
missense |
ANKRD30B |
2 |
75394 |
2.65273E-5 |
37697 |
0 |
1.42245E-5 |
18-14840603-A-G
|
p.Asp883Gly |
missense |
ANKRD30B |
1 |
75480 |
1.32485E-5 |
37740 |
0 |
3.27033E-5 |
18-14840604-T-C
|
p.Asp883Asp |
synonymous |
ANKRD30B |
2 |
75522 |
2.64824E-5 |
37761 |
0 |
3.18593E-5 |
18-14840616-T-G
|
p.Tyr887* |
stop_gained |
ANKRD30B |
5 |
76198 |
6.56185E-5 |
38099 |
0 |
4.68685E-5 |
18-14840617-G-A
|
p.Glu888Lys |
missense |
ANKRD30B |
2 |
76198 |
2.62474E-5 |
38099 |
0 |
NA |
18-14840621-G-A
|
p.Cys889Tyr |
missense |
ANKRD30B |
4 |
76306 |
5.24205E-5 |
38153 |
0 |
3.18715E-5 |
18-14840637-A-G
|
p.Thr894Thr |
synonymous |
ANKRD30B |
2 |
76318 |
2.62061E-5 |
38159 |
0 |
NA |
18-14840651-TAA-T
|
p.Lys900fs |
frameshift |
ANKRD30B |
4 |
76202 |
5.24921E-5 |
38101 |
0 |
6.73328E-6 |
18-14840659-A-G
|
p.Thr902Ala |
missense |
ANKRD30B |
1 |
76140 |
1.31337E-5 |
38070 |
0 |
NA |
18-14840662-A-T
|
p.Asn903Tyr |
missense |
ANKRD30B |
2 |
76096 |
2.62826E-5 |
38048 |
0 |
NA |
18-14840674-G-A
|
p.Glu907Lys |
missense |
ANKRD30B |
8 |
75566 |
1.05868E-4 |
37783 |
0 |
2.54777E-4 |
18-14842910-C-G
|
p.Pro913Ala |
missense |
ANKRD30B |
1 |
77218 |
1.29503E-5 |
38609 |
0 |
NA |
18-14842910-C-T
|
p.Pro913Ser |
missense |
ANKRD30B |
1 |
77218 |
1.29503E-5 |
38609 |
0 |
NA |
18-14843023-C-G
|
p.Pro918Ala |
missense+splice_region |
ANKRD30B |
375 |
75320 |
0.00497876 |
37660 |
1 |
0.00884612 |
18-14843025-T-G
|
p.Pro918Pro |
splice_region+synonymous |
ANKRD30B |
1 |
76370 |
1.30941E-5 |
38185 |
0 |
NA |
18-14843028-C-T
|
p.Ala919Ala |
synonymous |
ANKRD30B |
1 |
76656 |
1.30453E-5 |
38328 |
0 |
NA |
18-14843080-C-A
|
p.Gln937Lys |
missense |
ANKRD30B |
2 |
77948 |
2.56581E-5 |
38974 |
0 |
NA |
18-14848709-A-G
|
n.397-6A>G |
splice_region |
ANKRD30B |
1 |
75734 |
1.32041E-5 |
37867 |
0 |
NA |
18-14848726-C-T
|
p.Leu946Leu |
synonymous |
ANKRD30B |
1 |
77360 |
1.29266E-5 |
38680 |
0 |
NA |
18-14848728-A-G
|
p.Leu946Leu |
synonymous |
ANKRD30B |
1 |
77430 |
1.29149E-5 |
38715 |
0 |
NA |
18-14848737-C-G
|
p.Ile949Met |
missense |
ANKRD30B |
1 |
77956 |
1.28277E-5 |
38978 |
0 |
NA |
18-14848738-T-C
|
p.Leu950Leu |
synonymous |
ANKRD30B |
1 |
78016 |
1.28179E-5 |
39008 |
0 |
4.31667E-5 |
18-14848738-T-A
|
p.Leu950Met |
missense |
ANKRD30B |
1 |
78016 |
1.28179E-5 |
39008 |
0 |
1.295E-4 |
18-14848741-G-A
|
p.Asp951Asn |
missense |
ANKRD30B |
2 |
78178 |
2.55826E-5 |
39089 |
0 |
5.67299E-6 |
18-14848748-T-C
|
p.Leu953Pro |
missense |
ANKRD30B |
917 |
78204 |
0.0117257 |
39102 |
38 |
0.0263057 |
18-14848762-A-G
|
p.Arg958Gly |
missense |
ANKRD30B |
1 |
78516 |
1.27363E-5 |
39258 |
0 |
NA |
18-14848770-G-T
|
p.Arg960Ser |
missense |
ANKRD30B |
1 |
78600 |
1.27226E-5 |
39300 |
0 |
NA |
18-14848774-C-T
|
p.Leu962Phe |
missense |
ANKRD30B |
9 |
78680 |
1.14387E-4 |
39340 |
0 |
3.19407E-4 |
18-14848820-C-T
|
p.Thr977Met |
missense |
ANKRD30B |
30004 |
70268 |
0.426994 |
35134 |
7922 |
0.631846 |
18-14848821-G-A
|
p.Thr977Thr |
synonymous |
ANKRD30B |
21353 |
52838 |
0.404122 |
26419 |
4322 |
0.528739 |
18-14848833-T-TTG
|
p.Leu984fs |
frameshift |
ANKRD30B |
3 |
78210 |
3.83583E-5 |
39105 |
0 |
3.18837E-5 |
18-14848843-C-T
|
p.Gln985* |
stop_gained |
ANKRD30B |
1 |
77930 |
1.2832E-5 |
38965 |
0 |
NA |
18-14848843-CAAA-C
|
p.Lys986del |
disruptive_inframe_deletion |
ANKRD30B |
2 |
77930 |
2.56641E-5 |
38965 |
0 |
6.11247E-4 |
18-14848849-G-A
|
p.Glu987Lys |
missense |
ANKRD30B |
4 |
77810 |
5.14073E-5 |
38905 |
0 |
9.56694E-5 |
18-14848852-C-A
|
p.Leu988Met |
missense |
ANKRD30B |
3 |
77804 |
3.85584E-5 |
38902 |
0 |
6.26566E-4 |
18-14848853-T-G
|
p.Leu988Arg |
missense |
ANKRD30B |
1 |
77816 |
1.28508E-5 |
38908 |
0 |
NA |
18-14848862-C-T
|
p.Ala991Val |
missense |
ANKRD30B |
3 |
77494 |
3.87127E-5 |
38747 |
0 |
0.00125471 |
18-14848883-T-C
|
p.Leu998Ser |
missense |
ANKRD30B |
1 |
76598 |
1.30552E-5 |
38299 |
0 |
NA |
18-14848887-G-A
|
p.Glu999Glu |
synonymous |
ANKRD30B |
1 |
76440 |
1.30822E-5 |
38220 |
0 |
NA |
18-14848892-A-G
|
p.Gln1001Arg |
missense |
ANKRD30B |
1 |
76276 |
1.31103E-5 |
38138 |
0 |
NA |
18-14848898-C-G
|
p.Ala1003Gly |
missense |
ANKRD30B |
1 |
76082 |
1.31437E-5 |
38041 |
0 |
8.8164E-6 |
18-14848905-G-C
|
p.Trp1005Cys |
missense |
ANKRD30B |
1 |
76124 |
1.31365E-5 |
38062 |
0 |
3.14367E-5 |
18-14848918-T-C
|
p.Cys1010Arg |
missense |
ANKRD30B |
1 |
75672 |
1.32149E-5 |
37836 |
0 |
NA |
18-14848919-G-T
|
p.Cys1010Phe |
missense |
ANKRD30B |
1 |
75612 |
1.32254E-5 |
37806 |
0 |
NA |
18-14848935-C-T
|
n.610+7C>T |
splice_region |
ANKRD30B |
31990 |
65130 |
0.491172 |
32565 |
8274 |
0.529212 |
18-14850207-T-C
|
n.611-6T>C |
splice_region |
ANKRD30B |
2 |
76262 |
2.62254E-5 |
38131 |
0 |
3.19754E-5 |
18-14850217-AC-A
|
p.Thr1015fs |
frameshift |
ANKRD30B |
3 |
76694 |
3.91165E-5 |
38347 |
0 |
8.38054E-5 |
18-14850218-C-T
|
p.Thr1015Ile |
missense |
ANKRD30B |
2 |
76682 |
2.60817E-5 |
38341 |
0 |
1.65349E-5 |
18-14850223-A-C
|
p.Asn1017His |
missense |
ANKRD30B |
49 |
76902 |
6.37175E-4 |
38451 |
0 |
0.00130378 |
18-14850226-CAAG-C
|
p.Glu1021del |
disruptive_inframe_deletion |
ANKRD30B |
2 |
77004 |
2.59727E-5 |
38502 |
0 |
3.20349E-5 |
18-14850227-A-G
|
p.Gln1018Arg |
missense |
ANKRD30B |
1 |
77080 |
1.29735E-5 |
38540 |
0 |
2.99231E-5 |
18-14850230-AAGAAG-A
|
p.Arg1023fs |
frameshift |
ANKRD30B |
1 |
77106 |
1.29692E-5 |
38553 |
0 |
3.19693E-5 |
18-14850234-AGAG-A
|
p.Glu1021del |
conservative_inframe_deletion |
ANKRD30B |
2 |
77454 |
2.58218E-5 |
38727 |
0 |
NA |
18-14850237-G-A
|
p.Glu1021Glu |
synonymous |
ANKRD30B |
585 |
77558 |
0.00754274 |
38779 |
14 |
0.0183598 |
18-14850242-GAAGAA-G
|
p.Arg1024fs |
frameshift |
ANKRD30B |
4 |
77930 |
5.13281E-5 |
38965 |
0 |
6.39591E-5 |
18-14850245-G-T
|
p.Arg1024Ile |
missense |
ANKRD30B |
6 |
78068 |
7.68561E-5 |
39034 |
0 |
1.91877E-4 |
18-14850252-C-T
|
p.Val1026Val |
synonymous |
ANKRD30B |
441 |
78172 |
0.00564141 |
39086 |
8 |
0.0117575 |
18-14850252-C-A
|
p.Val1026Val |
synonymous |
ANKRD30B |
2 |
78198 |
2.55761E-5 |
39099 |
0 |
9.38514E-5 |
18-14850253-G-A
|
p.Asp1027Asn |
missense |
ANKRD30B |
6 |
78226 |
7.67008E-5 |
39113 |
0 |
1.47323E-4 |
18-14850254-A-C
|
p.Asp1027Ala |
missense |
ANKRD30B |
1 |
78322 |
1.27678E-5 |
39161 |
0 |
2.67237E-5 |
18-14850255-T-C
|
p.Asp1027Asp |
synonymous |
ANKRD30B |
1 |
78354 |
1.27626E-5 |
39177 |
0 |
1.33298E-5 |
18-14850255-T-A
|
p.Asp1027Glu |
missense |
ANKRD30B |
1 |
78354 |
1.27626E-5 |
39177 |
0 |
NA |
18-14850256-A-G
|
p.Ile1028Val |
missense |
ANKRD30B |
7 |
78386 |
8.93017E-5 |
39193 |
0 |
0.00251889 |
18-14850257-T-C
|
p.Ile1028Thr |
missense |
ANKRD30B |
1 |
78418 |
1.27522E-5 |
39209 |
0 |
NA |
18-14850265-G-T
|
p.Glu1031* |
stop_gained |
ANKRD30B |
3 |
78598 |
3.81689E-5 |
39299 |
0 |
1.28008E-4 |
18-14850273-TAGACCCGA-T
|
p.Pro1035fs |
frameshift |
ANKRD30B |
1 |
78716 |
1.27039E-5 |
39358 |
0 |
1.32273E-5 |
18-14850279-C-A
|
p.Pro1035Pro |
synonymous |
ANKRD30B |
1 |
78770 |
1.26952E-5 |
39385 |
0 |
NA |
18-14850279-C-T
|
p.Pro1035Pro |
synonymous |
ANKRD30B |
2 |
78770 |
2.53904E-5 |
39385 |
0 |
3.92979E-5 |
18-14850280-G-A
|
p.Glu1036Lys |
missense |
ANKRD30B |
11 |
78784 |
1.39622E-4 |
39392 |
0 |
3.90849E-5 |
18-14850285-G-C
|
p.Glu1037Asp |
missense |
ANKRD30B |
1 |
78802 |
1.269E-5 |
39401 |
0 |
NA |
18-14850300-G-A
|
p.Lys1042Lys |
synonymous |
ANKRD30B |
2 |
78748 |
2.53975E-5 |
39374 |
0 |
NA |
18-14850304-G-T
|
p.Glu1044* |
stop_gained |
ANKRD30B |
1 |
78778 |
1.26939E-5 |
39389 |
0 |
NA |
18-14850311-A-G
|
p.Lys1046Arg |
missense |
ANKRD30B |
1 |
78782 |
1.26933E-5 |
39391 |
0 |
NA |
18-14850329-C-T
|
p.Thr1052Ile |
missense |
ANKRD30B |
1 |
78934 |
1.26688E-5 |
39467 |
0 |
NA |
18-14850329-C-G
|
p.Thr1052Ser |
missense |
ANKRD30B |
2 |
78934 |
2.53376E-5 |
39467 |
0 |
1.79446E-5 |
18-14850339-A-G
|
p.Ile1055Met |
missense |
ANKRD30B |
3 |
78876 |
3.80344E-5 |
39438 |
0 |
6.391E-5 |
18-14850345-T-G
|
p.Asp1057Glu |
missense |
ANKRD30B |
6 |
78754 |
7.61866E-5 |
39377 |
0 |
8.06127E-5 |
18-14850357-A-AAAT
|
p.Lys1061_Ser1062insAsn |
disruptive_inframe_insertion |
ANKRD30B |
1 |
78422 |
1.27515E-5 |
39211 |
0 |
NA |
18-14850364-A-G
|
p.Thr1064Ala |
missense |
ANKRD30B |
1 |
78192 |
1.2789E-5 |
39096 |
0 |
5.76223E-6 |
18-14850375-G-A
|
p.Leu1067Leu |
synonymous |
ANKRD30B |
37070 |
73364 |
0.505289 |
36682 |
9517 |
0.531802 |
18-14851514-C-G
|
p.His1072Asp |
missense |
ANKRD30B |
2 |
78196 |
2.55768E-5 |
39098 |
0 |
NA |
18-14851552-T-C
|
p.Asn1084Asn |
synonymous |
ANKRD30B |
1 |
78772 |
1.26949E-5 |
39386 |
0 |
1.00823E-5 |
18-14851554-G-A
|
p.Cys1085Tyr |
missense |
ANKRD30B |
1 |
78756 |
1.26974E-5 |
39378 |
0 |
6.38174E-4 |
18-14851570-A-G
|
p.Glu1090Glu |
synonymous |
ANKRD30B |
1 |
78880 |
1.26775E-5 |
39440 |
0 |
NA |
18-14851579-GC-G
|
p.Leu1094fs |
frameshift |
ANKRD30B |
2 |
78960 |
2.53293E-5 |
39480 |
0 |
9.57365E-5 |
18-14851581-T-C
|
p.Leu1094Pro |
missense |
ANKRD30B |
2 |
78974 |
2.53248E-5 |
39487 |
0 |
4.72402E-5 |
18-14851582-A-T
|
p.Leu1094Leu |
synonymous |
ANKRD30B |
1 |
78998 |
1.26585E-5 |
39499 |
0 |
9.56694E-5 |
18-14851612-A-C
|
p.Gln1104His |
missense |
ANKRD30B |
1 |
79262 |
1.26164E-5 |
39631 |
0 |
1.70419E-5 |
18-14851623-A-G
|
p.Lys1108Arg |
missense |
ANKRD30B |
1 |
79306 |
1.26094E-5 |
39653 |
0 |
8.50398E-6 |
18-14851625-G-A
|
p.Glu1109Lys |
missense |
ANKRD30B |
2 |
79302 |
2.522E-5 |
39651 |
0 |
4.05154E-6 |
18-14851635-A-T
|
p.Tyr1112Phe |
missense |
ANKRD30B |
20 |
79302 |
2.522E-4 |
39651 |
0 |
0.00217628 |
18-14851652-A-T
|
p.Ile1118Phe |
missense |
ANKRD30B |
1 |
79388 |
1.25964E-5 |
39694 |
0 |
3.18918E-5 |
18-14851674-A-T
|
p.Glu1125Val |
missense |
ANKRD30B |
3 |
79492 |
3.77396E-5 |
39746 |
0 |
2.60516E-4 |
18-14851694-C-T
|
p.Leu1132Leu |
synonymous |
ANKRD30B |
2 |
79410 |
2.51857E-5 |
39705 |
0 |
3.65967E-5 |
18-14851713-C-CA
|
p.Arg1140fs |
frameshift |
ANKRD30B |
1 |
79066 |
1.26477E-5 |
39533 |
0 |
8.43896E-6 |
18-14851719-G-C
|
p.Arg1140Thr |
missense |
ANKRD30B |
1 |
78800 |
1.26904E-5 |
39400 |
0 |
NA |
18-14851753-G-A
|
p.Leu1151Leu |
synonymous |
ANKRD30B |
32 |
73116 |
4.37661E-4 |
36558 |
9 |
7.3955E-4 |
18-14851756-G-A
|
p.Thr1152Thr |
synonymous |
ANKRD30B |
316 |
35176 |
0.0089834 |
17588 |
59 |
0.574871 |
18-14851847-G-A
|
p.Ala1183Thr |
missense |
ANKRD30B |
1 |
73822 |
1.35461E-5 |
36911 |
0 |
2.1692E-4 |
18-14852114-C-G
|
p.Gln1272Glu |
missense |
ANKRD30B |
9 |
78916 |
1.14045E-4 |
39458 |
0 |
0.00501178 |
18-14852229-A-G
|
p.Asn1310Ser |
missense |
ANKRD30B |
1 |
80306 |
1.24524E-5 |
40153 |
0 |
NA |
18-14852241-G-A
|
p.Arg1314Gln |
missense |
ANKRD30B |
1 |
80078 |
1.24878E-5 |
40039 |
0 |
6.55652E-5 |
18-14852247-A-G
|
p.Gln1316Arg |
missense |
ANKRD30B |
1 |
79966 |
1.25053E-5 |
39983 |
0 |
NA |
18-14852271-T-C
|
p.Val1324Ala |
missense |
ANKRD30B |
1 |
79128 |
1.26378E-5 |
39564 |
0 |
6.91506E-6 |
18-14852275-C-A
|
p.Asn1325Lys |
missense |
ANKRD30B |
21 |
78832 |
2.66389E-4 |
39416 |
0 |
5.74529E-4 |
18-14852283-A-T
|
p.Lys1328Met |
missense |
ANKRD30B |
1 |
78250 |
1.27796E-5 |
39125 |
0 |
NA |
18-14852284-G-T
|
p.Lys1328Asn |
missense |
ANKRD30B |
2 |
78146 |
2.55931E-5 |
39073 |
0 |
NA |
18-14852300-C-T
|
p.Gln1334* |
stop_gained |
ANKRD30B |
1 |
77630 |
1.28816E-5 |
38815 |
0 |
6.38244E-5 |
18-14852325-G-A
|
p.Arg1342His |
missense |
ANKRD30B |
18 |
76688 |
2.34717E-4 |
38344 |
0 |
2.69978E-4 |
18-14852332-A-G
|
p.Leu1344Leu |
synonymous |
ANKRD30B |
3 |
76232 |
3.93536E-5 |
38116 |
0 |
NA |
18-14852335-C-A
|
p.Asn1345Lys |
missense |
ANKRD30B |
63703 |
64546 |
0.98694 |
32273 |
31462 |
0.999374 |
18-14852337-A-G
|
p.Glu1346Gly |
missense |
ANKRD30B |
6 |
76132 |
7.88105E-5 |
38066 |
0 |
1.12486E-4 |
18-14852338-G-T
|
p.Glu1346Asp |
missense |
ANKRD30B |
1 |
76182 |
1.31265E-5 |
38091 |
0 |
1.51916E-5 |
18-14852343-AT-A
|
p.Asn1348fs |
frameshift |
ANKRD30B |
1 |
76348 |
1.30979E-5 |
38174 |
0 |
NA |
18-14852345-G-T
|
p.Glu1349* |
stop_gained |
ANKRD30B |
1 |
76448 |
1.30808E-5 |
38224 |
0 |
NA |
18-14852361-A-G
|
p.Tyr1354Cys |
missense |
ANKRD30B |
3 |
77018 |
3.89519E-5 |
38509 |
0 |
NA |
18-14852381-C-A
|
p.Arg1361Ser |
missense |
ANKRD30B |
2 |
77682 |
2.5746E-5 |
38841 |
0 |
0.004436 |
18-14852391-A-G
|
p.Gln1364Arg |
missense |
ANKRD30B |
1 |
77630 |
1.28816E-5 |
38815 |
0 |
NA |
18-14852397-A-G
|
p.Glu1366Gly |
missense |
ANKRD30B |
33 |
77684 |
4.24798E-4 |
38842 |
0 |
0.00108467 |
18-14852401-A-G
|
p.Lys1367Lys |
synonymous |
ANKRD30B |
40 |
77704 |
5.14774E-4 |
38852 |
0 |
0.00149892 |
18-14852425-T-C
|
p.Ser1375Ser |
synonymous |
ANKRD30B |
85 |
77658 |
0.00109454 |
38829 |
0 |
0.00166945 |
18-14852428-C-CA
|
p.Tyr1379fs |
frameshift |
ANKRD30B |
1 |
77746 |
1.28624E-5 |
38873 |
0 |
NA |
18-14852441-T-C
|
p.Tyr1381His |
missense |
ANKRD30B |
1 |
77710 |
1.28684E-5 |
38855 |
0 |
NA |
18-14852449-A-G
|
p.Ser1383Ser |
synonymous |
ANKRD30B |
1 |
77432 |
1.29146E-5 |
38716 |
0 |
9.02723E-6 |
18-14852455-C-T
|
p.Phe1385Phe |
synonymous |
ANKRD30B |
1 |
77224 |
1.29493E-5 |
38612 |
0 |
NA |