12-96337130-G-A
|
c.-47G>A |
5_prime_UTR_premature_start_codon_gain |
AMDHD1 |
1 |
38396 |
2.60444E-5 |
19198 |
0 |
1.67937E-5 |
12-96337183-A-G
|
p.Ser3Gly |
missense |
AMDHD1 |
24634 |
40472 |
0.608668 |
20236 |
7656 |
0.634619 |
12-96337202-T-C
|
p.Leu9Pro |
missense |
AMDHD1 |
1 |
41320 |
2.42014E-5 |
20660 |
0 |
2.231E-4 |
12-96337214-A-G
|
p.Gln13Arg |
missense |
AMDHD1 |
2 |
40946 |
4.88448E-5 |
20473 |
0 |
2.89318E-5 |
12-96337222-G-A
|
p.Val16Met |
missense |
AMDHD1 |
6 |
40790 |
1.47095E-4 |
20395 |
0 |
6.37146E-5 |
12-96337225-C-T
|
p.Leu17Leu |
synonymous |
AMDHD1 |
8438 |
40340 |
0.209172 |
20170 |
1025 |
0.297601 |
12-96337226-T-A
|
p.Leu17Gln |
missense |
AMDHD1 |
1 |
40610 |
2.46245E-5 |
20305 |
0 |
NA |
12-96337235-C-A
|
p.Ala20Asp |
missense |
AMDHD1 |
1 |
40386 |
2.47611E-5 |
20193 |
0 |
9.74944E-6 |
12-96337239-C-T
|
p.Arg21Arg |
synonymous |
AMDHD1 |
2 |
40284 |
4.96475E-5 |
20142 |
0 |
9.77326E-5 |
12-96337246-C-A
|
p.Arg24Ser |
missense |
AMDHD1 |
1 |
40130 |
2.4919E-5 |
20065 |
0 |
NA |
12-96337246-C-G
|
p.Arg24Gly |
missense |
AMDHD1 |
1 |
40130 |
2.4919E-5 |
20065 |
0 |
9.72517E-6 |
12-96337247-G-A
|
p.Arg24His |
missense |
AMDHD1 |
1 |
40148 |
2.49078E-5 |
20074 |
0 |
9.56389E-5 |
12-96337250-TCCTGGCGCGGGATGCGCTGCGCAG-T
|
p.Arg28_Ala35del |
conservative_inframe_deletion |
AMDHD1 |
1 |
40200 |
2.48756E-5 |
20100 |
0 |
NA |
12-96337252-C-T
|
p.Leu26Leu |
synonymous |
AMDHD1 |
1 |
40232 |
2.48558E-5 |
20116 |
0 |
1.93581E-5 |
12-96337272-C-A
|
p.Arg32Arg |
synonymous |
AMDHD1 |
1 |
39860 |
2.50878E-5 |
19930 |
0 |
2.0444E-5 |
12-96337279-G-T
|
p.Ala35Ser |
missense |
AMDHD1 |
13 |
39822 |
3.26453E-4 |
19911 |
0 |
4.68055E-4 |
12-96337280-CGGTGCTGGAAGGCGCCAGCCTGGT-C
|
p.Met1fs |
frameshift |
AMDHD1 |
1 |
39756 |
2.51534E-5 |
19878 |
0 |
NA |
12-96337288-G-A
|
p.Glu38Lys |
missense |
AMDHD1 |
2 |
39782 |
5.0274E-5 |
19891 |
0 |
NA |
12-96346492-C-T
|
c.138-3C>T |
splice_region |
AMDHD1 |
5 |
79484 |
6.29057E-5 |
39742 |
0 |
1.23635E-5 |
12-96346494-G-C
|
c.138-1G>C |
splice_acceptor |
AMDHD1 |
1 |
79598 |
1.25631E-5 |
39799 |
0 |
NA |
12-96346496-G-A
|
p.Asp47Asn |
missense+splice_region |
AMDHD1 |
1 |
79658 |
1.25537E-5 |
39829 |
0 |
NA |
12-96346517-G-C
|
p.Gly54Arg |
missense |
AMDHD1 |
1 |
80078 |
1.24878E-5 |
40039 |
0 |
1.59286E-4 |
12-96346543-G-T
|
p.Gln62His |
missense |
AMDHD1 |
5 |
80208 |
6.23379E-5 |
40104 |
0 |
3.18695E-4 |
12-96346551-G-A
|
p.Gly65Glu |
missense |
AMDHD1 |
4 |
80228 |
4.98579E-5 |
40114 |
0 |
NA |
12-96346552-A-G
|
p.Gly65Gly |
synonymous |
AMDHD1 |
1 |
80226 |
1.24648E-5 |
40113 |
0 |
8.28734E-6 |
12-96346560-T-C
|
p.Phe68Ser |
missense |
AMDHD1 |
2 |
80194 |
2.49395E-5 |
40097 |
0 |
NA |
12-96346568-A-G
|
p.Ile71Val |
missense |
AMDHD1 |
1 |
80106 |
1.24835E-5 |
40053 |
0 |
8.2861E-6 |
12-96346574-G-A
|
p.Asp73Asn |
missense |
AMDHD1 |
2 |
80102 |
2.49682E-5 |
40051 |
0 |
0.0020141 |
12-96346577-T-C
|
p.Cys74Arg |
missense |
AMDHD1 |
4 |
80052 |
4.99675E-5 |
40026 |
0 |
0.00100705 |
12-96346591-T-C
|
p.Cys78Cys |
synonymous |
AMDHD1 |
1 |
79826 |
1.25272E-5 |
39913 |
0 |
NA |
12-96346594-T-C
|
p.Ile79Ile |
synonymous |
AMDHD1 |
16704 |
79162 |
0.21101 |
39581 |
1955 |
0.244512 |
12-96346604-A-G
|
c.244+3A>G |
splice_region |
AMDHD1 |
1 |
79424 |
1.25907E-5 |
39712 |
0 |
NA |
12-96348689-G-T
|
p.Gly82Val |
missense+splice_region |
AMDHD1 |
1 |
80450 |
1.24301E-5 |
40225 |
0 |
NA |
12-96348696-G-A
|
p.Val84Val |
synonymous |
AMDHD1 |
5 |
80488 |
6.21211E-5 |
40244 |
0 |
3.9782E-6 |
12-96348703-C-A
|
p.His87Asn |
missense |
AMDHD1 |
1 |
80538 |
1.24165E-5 |
40269 |
0 |
NA |
12-96348711-T-G
|
p.His89Gln |
missense |
AMDHD1 |
1 |
80558 |
1.24134E-5 |
40279 |
0 |
NA |
12-96348725-G-A
|
p.Gly94Asp |
missense |
AMDHD1 |
1 |
80566 |
1.24122E-5 |
40283 |
0 |
3.1835E-5 |
12-96348736-C-A
|
p.His98Asn |
missense |
AMDHD1 |
1 |
80566 |
1.24122E-5 |
40283 |
0 |
NA |
12-96348738-C-T
|
c.-10C>T |
5_prime_UTR_premature_start_codon_gain |
AMDHD1 |
1 |
80538 |
1.24165E-5 |
40269 |
0 |
1.98867E-5 |
12-96348739-G-A
|
p.Glu99Lys |
missense |
AMDHD1 |
1 |
80546 |
1.24153E-5 |
40273 |
0 |
1.64864E-5 |
12-96348757-A-G
|
c.309+4A>G |
splice_region |
AMDHD1 |
2 |
80456 |
2.48583E-5 |
40228 |
0 |
NA |
12-96348757-AC-CT
|
c.309+4_309+5delACinsCT |
splice_region |
AMDHD1 |
2 |
80456 |
2.48583E-5 |
40228 |
0 |
NA |
12-96350463-T-C
|
p.Val41Ala |
missense+splice_region |
AMDHD1 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
NA |
12-96350463-TTG-T
|
p.Leu104fs |
frameshift |
AMDHD1 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
NA |
12-96350465-G-C
|
p.Leu104Phe |
missense+splice_region |
AMDHD1 |
3 |
80704 |
3.71729E-5 |
40352 |
0 |
3.98473E-6 |
12-96350473-C-G
|
p.Ala6Gly |
missense+splice_region |
AMDHD1 |
6 |
80704 |
7.43458E-5 |
40352 |
0 |
3.1841E-5 |
12-96350479-A-T
|
p.Tyr109Phe |
missense |
AMDHD1 |
1 |
80714 |
1.23894E-5 |
40357 |
0 |
NA |
12-96350493-C-G
|
p.Gln114Glu |
missense |
AMDHD1 |
6 |
80690 |
7.43587E-5 |
40345 |
0 |
9.55475E-5 |
12-96350501-A-T
|
p.Arg54Trp |
missense |
AMDHD1 |
7 |
80666 |
8.67776E-5 |
40333 |
0 |
4.12882E-5 |
12-96350504-A-G
|
p.Arg55Gly |
missense |
AMDHD1 |
2 |
80664 |
2.47942E-5 |
40332 |
0 |
3.97912E-6 |
12-96350527-G-A
|
p.Arg125His |
missense |
AMDHD1 |
1 |
80542 |
1.24159E-5 |
40271 |
0 |
3.30333E-5 |
12-96350533-G-A
|
p.Arg127His |
missense |
AMDHD1 |
1 |
80576 |
1.24106E-5 |
40288 |
0 |
1.19404E-5 |
12-96350538-G-A
|
p.Ala129Thr |
missense |
AMDHD1 |
5 |
80772 |
6.19026E-5 |
40386 |
0 |
2.78425E-5 |
12-96350557-T-C
|
p.Phe135Ser |
missense |
AMDHD1 |
1 |
80762 |
1.23821E-5 |
40381 |
0 |
2.5575E-4 |
12-96350565-T-C
|
p.Leu75Pro |
missense |
AMDHD1 |
3 |
80798 |
3.71296E-5 |
40399 |
0 |
2.47517E-5 |
12-96350571-C-G
|
p.Gln140Glu |
missense |
AMDHD1 |
4 |
80784 |
4.95148E-5 |
40392 |
0 |
2.54664E-4 |
12-96350576-G-A
|
p.Ala79Thr |
missense |
AMDHD1 |
2 |
80804 |
2.47513E-5 |
40402 |
0 |
NA |
12-96350586-A-G
|
p.Met145Val |
missense |
AMDHD1 |
19 |
80822 |
2.35085E-4 |
40411 |
0 |
1.56735E-4 |
12-96350590-T-A
|
p.Met146Lys |
missense |
AMDHD1 |
1 |
80820 |
1.23732E-5 |
40410 |
0 |
2.38652E-5 |
12-96350605-C-T
|
p.Thr151Met |
missense |
AMDHD1 |
3 |
80800 |
3.71287E-5 |
40400 |
0 |
6.3674E-5 |
12-96350605-C-A
|
p.Thr151Lys |
missense |
AMDHD1 |
1 |
80800 |
1.23762E-5 |
40400 |
0 |
8.24865E-6 |
12-96350612-G-A
|
p.Gly91Arg |
missense |
AMDHD1 |
94 |
80834 |
0.00116288 |
40417 |
0 |
0.00114946 |
12-96350615-G-C
|
p.Glu154Asp |
missense |
AMDHD1 |
3 |
80836 |
3.71122E-5 |
40418 |
0 |
6.36659E-5 |
12-96350626-G-T
|
p.Gly158Val |
missense |
AMDHD1 |
3 |
80842 |
3.71094E-5 |
40421 |
0 |
7.95418E-6 |
12-96350637-G-C
|
p.Asp162His |
missense |
AMDHD1 |
2 |
80784 |
2.47574E-5 |
40392 |
0 |
8.25151E-6 |
12-96350647-C-A
|
p.Thr165Asn |
missense |
AMDHD1 |
1 |
80794 |
1.23772E-5 |
40397 |
0 |
0.00100705 |
12-96350648-C-T
|
p.Arg103* |
stop_gained |
AMDHD1 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
6.36943E-5 |
12-96350654-C-T
|
p.Gln105* |
stop_gained |
AMDHD1 |
3 |
80798 |
3.71296E-5 |
40399 |
0 |
NA |
12-96350654-C-G
|
p.Gln105Glu |
missense |
AMDHD1 |
2 |
80798 |
2.47531E-5 |
40399 |
0 |
3.58009E-5 |
12-96350666-C-T
|
p.Arg109Cys |
missense |
AMDHD1 |
15 |
80714 |
1.85841E-4 |
40357 |
0 |
1.07379E-4 |
12-96350675-G-A
|
p.Glu174Glu |
synonymous |
AMDHD1 |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
NA |
12-96350679-G-A
|
p.Ala176Thr |
missense |
AMDHD1 |
1 |
80610 |
1.24054E-5 |
40305 |
0 |
3.9807E-6 |
12-96350683-G-A
|
p.Arg177Gln |
missense |
AMDHD1 |
1 |
80584 |
1.24094E-5 |
40292 |
0 |
NA |
12-96350688-G-A
|
p.Glu179Lys |
missense |
AMDHD1 |
1 |
80504 |
1.24217E-5 |
40252 |
0 |
1.19386E-5 |
12-96350690-G-A
|
p.Glu179Glu |
synonymous |
AMDHD1 |
2 |
80436 |
2.48645E-5 |
40218 |
0 |
0.00187735 |
12-96350691-C-T
|
p.Leu180Leu |
synonymous |
AMDHD1 |
1 |
80458 |
1.24288E-5 |
40229 |
0 |
3.1837E-5 |
12-96350695-A-G
|
p.Asp181Gly |
missense |
AMDHD1 |
1 |
80462 |
1.24282E-5 |
40231 |
0 |
3.1839E-5 |
12-96350696-C-G
|
p.Asp181Glu |
missense |
AMDHD1 |
6 |
80454 |
7.45768E-5 |
40227 |
0 |
6.25782E-4 |
12-96350699-C-A
|
p.Ile182Ile |
synonymous |
AMDHD1 |
1 |
80390 |
1.24394E-5 |
40195 |
0 |
8.28665E-6 |
12-96350700-G-A
|
p.Gly183Ser |
missense |
AMDHD1 |
1 |
80348 |
1.24459E-5 |
40174 |
0 |
2.48587E-5 |
12-96350708-G-A
|
p.Ser185Ser |
synonymous |
AMDHD1 |
1 |
80162 |
1.24747E-5 |
40081 |
0 |
1.65986E-5 |
12-96350715-T-C
|
p.Tyr188His |
missense |
AMDHD1 |
2 |
80050 |
2.49844E-5 |
40025 |
0 |
8.31089E-6 |
12-96350727-CAT-C
|
p.His192fs |
frameshift |
AMDHD1 |
1 |
79716 |
1.25445E-5 |
39858 |
0 |
NA |
12-96350739-A-C
|
p.Lys196Gln |
missense+splice_region |
AMDHD1 |
2 |
79300 |
2.52207E-5 |
39650 |
0 |
NA |
12-96354175-G-C
|
c.588-1G>C |
splice_acceptor |
AMDHD1 |
2 |
80814 |
2.47482E-5 |
40407 |
0 |
3.18431E-5 |
12-96354213-A-G
|
p.Asn209Asp |
missense |
AMDHD1 |
2 |
80998 |
2.4692E-5 |
40499 |
0 |
NA |
12-96354232-T-G
|
p.Leu215Arg |
missense |
AMDHD1 |
2 |
81022 |
2.46847E-5 |
40511 |
0 |
2.47443E-5 |
12-96354236-G-T
|
p.Lys216Asn |
missense |
AMDHD1 |
422 |
81028 |
0.00520808 |
40514 |
5 |
0.010538 |
12-96354247-G-A
|
p.Arg220Lys |
missense |
AMDHD1 |
2 |
81036 |
2.46804E-5 |
40518 |
0 |
8.2428E-6 |
12-96354251-TG-T
|
p.Glu223fs |
frameshift |
AMDHD1 |
5 |
81042 |
6.16964E-5 |
40521 |
0 |
3.18134E-5 |
12-96354256-A-G
|
p.Glu223Gly |
missense |
AMDHD1 |
5 |
81044 |
6.16949E-5 |
40522 |
0 |
9.54365E-5 |
12-96354263-C-T
|
p.His225His |
synonymous |
AMDHD1 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
3.97659E-6 |
12-96354264-G-A
|
p.Val226Met |
missense |
AMDHD1 |
17 |
81040 |
2.09773E-4 |
40520 |
0 |
5.03525E-4 |
12-96354269-C-A
|
p.Asp227Glu |
missense |
AMDHD1 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
5.1694E-5 |
12-96354274-T-C
|
p.Ile229Thr |
missense |
AMDHD1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
2.47158E-5 |
12-96354278-C-T
|
p.Asp230Asp |
synonymous |
AMDHD1 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
3.18471E-5 |
12-96354279-G-A
|
p.Val231Ile |
missense |
AMDHD1 |
4 |
81038 |
4.93596E-5 |
40519 |
0 |
1.91083E-4 |
12-96354287-T-C
|
p.Cys233Cys |
synonymous |
AMDHD1 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
6.36943E-5 |
12-96354294-G-T
|
p.Gly236Cys |
missense |
AMDHD1 |
1 |
81050 |
1.23381E-5 |
40525 |
0 |
7.9526E-6 |
12-96354298-T-C
|
p.Val237Ala |
missense |
AMDHD1 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
12-96354309-G-A
|
p.Asp241Asn |
missense |
AMDHD1 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
1.64734E-5 |
12-96354317-C-A
|
p.Thr243Thr |
synonymous |
AMDHD1 |
133 |
81038 |
0.00164121 |
40519 |
1 |
0.00302115 |
12-96354322-G-A
|
p.Arg245Lys |
missense |
AMDHD1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
12-96354333-C-T
|
p.Arg249Cys |
missense |
AMDHD1 |
22 |
81040 |
2.71471E-4 |
40520 |
0 |
0.00167202 |
12-96354334-G-A
|
p.Arg249His |
missense |
AMDHD1 |
18 |
81040 |
2.22113E-4 |
40520 |
0 |
5.03525E-4 |
12-96354336-G-A
|
p.Gly250Arg |
missense |
AMDHD1 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
NA |
12-96354349-G-C
|
p.Gly254Ala |
missense |
AMDHD1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
12-96354350-G-A
|
p.Gly254Gly |
synonymous |
AMDHD1 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
12-96354386-G-A
|
p.Pro266Pro |
synonymous |
AMDHD1 |
11 |
80986 |
1.35826E-4 |
40493 |
0 |
9.89821E-5 |
12-96354386-G-T
|
p.Pro266Pro |
synonymous |
AMDHD1 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
3.97864E-6 |
12-96354393-G-T
|
p.Ala269Ser |
missense |
AMDHD1 |
2 |
80972 |
2.46999E-5 |
40486 |
0 |
NA |
12-96354394-C-T
|
p.Ala269Val |
missense |
AMDHD1 |
1 |
80968 |
1.23506E-5 |
40484 |
0 |
NA |
12-96354399-G-C
|
p.Glu271Gln |
missense+splice_region |
AMDHD1 |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
NA |
12-96354401-G-A
|
p.Glu271Glu |
splice_region+synonymous |
AMDHD1 |
74 |
80950 |
9.14145E-4 |
40475 |
0 |
0.0010195 |
12-96354403-T-C
|
c.813+2T>C |
splice_donor |
AMDHD1 |
2 |
80950 |
2.47066E-5 |
40475 |
0 |
4.00766E-6 |
12-96354405-T-A
|
c.813+4T>A |
splice_region |
AMDHD1 |
2 |
80932 |
2.47121E-5 |
40466 |
0 |
8.01822E-6 |
12-96356130-T-C
|
c.814-3T>C |
splice_region |
AMDHD1 |
1 |
80480 |
1.24254E-5 |
40240 |
0 |
2.48764E-5 |
12-96356137-G-A
|
p.Gly273Glu |
missense |
AMDHD1 |
6 |
80514 |
7.45212E-5 |
40257 |
0 |
1.19904E-5 |
12-96356149-G-A
|
p.Gly277Glu |
missense |
AMDHD1 |
1 |
80530 |
1.24177E-5 |
40265 |
0 |
NA |
12-96356152-C-T
|
p.Ala278Val |
missense |
AMDHD1 |
9 |
80494 |
1.1181E-4 |
40247 |
0 |
7.44663E-5 |
12-96356153-G-A
|
p.Ala278Ala |
synonymous |
AMDHD1 |
1 |
80482 |
1.24251E-5 |
40241 |
0 |
1.65453E-5 |
12-96356155-A-G
|
p.Gln279Arg |
missense |
AMDHD1 |
1 |
80540 |
1.24162E-5 |
40270 |
0 |
3.99004E-6 |
12-96356164-G-C
|
p.Ser282Thr |
missense |
AMDHD1 |
1 |
80588 |
1.24088E-5 |
40294 |
0 |
NA |
12-96356168-C-T
|
p.His283His |
synonymous |
AMDHD1 |
1 |
80574 |
1.2411E-5 |
40287 |
0 |
4.78492E-5 |
12-96356178-G-A
|
p.Val287Met |
missense |
AMDHD1 |
1 |
80614 |
1.24048E-5 |
40307 |
0 |
8.26132E-6 |
12-96356191-G-T
|
p.Gly291Val |
missense |
AMDHD1 |
10 |
80608 |
1.24057E-4 |
40304 |
0 |
2.86569E-4 |
12-96356195-C-T
|
p.Ile292Ile |
synonymous |
AMDHD1 |
1 |
80604 |
1.24063E-5 |
40302 |
0 |
3.18471E-5 |
12-96356196-G-A
|
p.Val293Ile |
missense |
AMDHD1 |
3 |
80620 |
3.72116E-5 |
40310 |
0 |
2.47889E-5 |
12-96356203-T-G
|
p.Met295Arg |
missense |
AMDHD1 |
1 |
80618 |
1.24042E-5 |
40309 |
0 |
1.19498E-5 |
12-96356205-G-A
|
p.Ala296Thr |
missense |
AMDHD1 |
45 |
80632 |
5.58091E-4 |
40316 |
0 |
3.54664E-4 |
12-96356210-G-A
|
p.Thr297Thr |
synonymous |
AMDHD1 |
2 |
80628 |
2.48053E-5 |
40314 |
0 |
8.26829E-6 |
12-96356237-C-T
|
p.Pro306Pro |
synonymous |
AMDHD1 |
4 |
80654 |
4.95946E-5 |
40327 |
0 |
8.79247E-5 |
12-96356245-C-G
|
p.Ala309Gly |
missense |
AMDHD1 |
1 |
80662 |
1.23974E-5 |
40331 |
0 |
8.29972E-6 |
12-96356265-C-T
|
c.938+8C>T |
splice_region |
AMDHD1 |
2 |
80520 |
2.48385E-5 |
40260 |
0 |
5.52608E-5 |
12-96359465-C-T
|
p.Leu314Leu |
splice_region+synonymous |
AMDHD1 |
1 |
80512 |
1.24205E-5 |
40256 |
0 |
NA |
12-96359471-CA-C
|
p.Gln316fs |
frameshift |
AMDHD1 |
1 |
80550 |
1.24146E-5 |
40275 |
0 |
NA |
12-96359477-C-G
|
p.Arg318Gly |
missense |
AMDHD1 |
3 |
80558 |
3.72403E-5 |
40279 |
0 |
1.64897E-5 |
12-96359491-G-A
|
p.Met322Ile |
missense |
AMDHD1 |
1 |
80660 |
1.23977E-5 |
40330 |
0 |
NA |
12-96359493-T-G
|
p.Leu323* |
stop_gained |
AMDHD1 |
1 |
80680 |
1.23946E-5 |
40340 |
0 |
NA |
12-96359497-T-C
|
p.Asp324Asp |
synonymous |
AMDHD1 |
1 |
80688 |
1.23934E-5 |
40344 |
0 |
NA |
12-96359501-G-A
|
p.Gly326Arg |
missense |
AMDHD1 |
2 |
80698 |
2.47838E-5 |
40349 |
0 |
6.25E-4 |
12-96359504-G-A
|
p.Val327Ile |
missense |
AMDHD1 |
15 |
80714 |
1.85841E-4 |
40357 |
0 |
1.4354E-4 |
12-96359505-T-G
|
p.Val327Gly |
missense |
AMDHD1 |
2 |
80716 |
2.47782E-5 |
40358 |
0 |
NA |
12-96359506-A-G
|
p.Val327Val |
synonymous |
AMDHD1 |
1 |
80712 |
1.23897E-5 |
40356 |
0 |
NA |
12-96359560-A-C
|
c.1032+3A>C |
splice_region |
AMDHD1 |
1 |
80238 |
1.24629E-5 |
40119 |
0 |
NA |
12-96359564-A-AT
|
c.1032+7_1032+8insT |
splice_region |
AMDHD1 |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
NA |
12-96359564-A-C
|
c.1032+7A>C |
splice_region |
AMDHD1 |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
3.18613E-5 |
12-96360123-T-C
|
c.1033-3T>C |
splice_region |
AMDHD1 |
4 |
80822 |
4.94915E-5 |
40411 |
0 |
2.47329E-5 |
12-96360129-A-G
|
p.Met346Val |
missense |
AMDHD1 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
3.1839E-5 |
12-96360132-G-A
|
p.Val347Ile |
missense |
AMDHD1 |
117 |
80862 |
0.00144691 |
40431 |
0 |
0.005 |
12-96360132-G-T
|
p.Val347Phe |
missense |
AMDHD1 |
1 |
80868 |
1.23658E-5 |
40434 |
0 |
NA |
12-96360135-A-G
|
p.Met348Val |
missense |
AMDHD1 |
5 |
80884 |
6.18169E-5 |
40442 |
0 |
6.59294E-5 |
12-96360148-G-A
|
p.Cys352Tyr |
missense |
AMDHD1 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
NA |
12-96360155-C-G
|
p.Asn354Lys |
missense |
AMDHD1 |
102 |
80936 |
0.00126025 |
40468 |
0 |
0.00257962 |
12-96360156-A-C
|
p.Met355Leu |
missense |
AMDHD1 |
2 |
80942 |
2.47091E-5 |
40471 |
0 |
3.18431E-5 |
12-96360163-T-G
|
p.Met357Arg |
missense |
AMDHD1 |
2 |
80944 |
2.47084E-5 |
40472 |
0 |
NA |
12-96360172-C-A
|
p.Pro360His |
missense |
AMDHD1 |
644 |
80912 |
0.00795926 |
40456 |
13 |
0.0146778 |
12-96360185-C-T
|
p.Ala364Ala |
synonymous |
AMDHD1 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
8.23683E-6 |
12-96360186-G-A
|
p.Ala365Thr |
missense |
AMDHD1 |
1 |
80928 |
1.23567E-5 |
40464 |
0 |
6.3674E-5 |
12-96360193-C-T
|
p.Thr367Ile |
missense |
AMDHD1 |
1 |
80942 |
1.23545E-5 |
40471 |
0 |
8.23683E-6 |
12-96360209-T-C
|
p.Tyr372Tyr |
synonymous |
AMDHD1 |
3 |
80952 |
3.7059E-5 |
40476 |
0 |
1.19309E-5 |
12-96360221-GTC-G
|
p.His380fs |
frameshift |
AMDHD1 |
1 |
80980 |
1.23487E-5 |
40490 |
0 |
1.64737E-5 |
12-96360223-C-T
|
p.Ser377Phe |
missense |
AMDHD1 |
1 |
80978 |
1.2349E-5 |
40489 |
0 |
3.97681E-6 |
12-96360233-C-T
|
p.His380His |
synonymous |
AMDHD1 |
2 |
80986 |
2.46956E-5 |
40493 |
0 |
8.23669E-6 |
12-96360239-G-A
|
p.Ser382Ser |
synonymous |
AMDHD1 |
2 |
80988 |
2.4695E-5 |
40494 |
0 |
9.55049E-5 |
12-96360241-T-C
|
p.Leu383Ser |
missense |
AMDHD1 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
NA |
12-96360242-G-A
|
p.Leu383Leu |
synonymous |
AMDHD1 |
36 |
80984 |
4.44532E-4 |
40492 |
0 |
4.13907E-4 |
12-96360248-T-C
|
p.Val385Val |
synonymous |
AMDHD1 |
4 |
80978 |
4.93961E-5 |
40489 |
0 |
3.1837E-5 |
12-96360253-A-T
|
p.Lys387Ile |
missense |
AMDHD1 |
4 |
80980 |
4.93949E-5 |
40490 |
0 |
NA |
12-96360268-T-C
|
p.Ile392Thr |
missense |
AMDHD1 |
1 |
80982 |
1.23484E-5 |
40491 |
0 |
NA |
12-96360277-A-G
|
p.Asn395Ser |
missense |
AMDHD1 |
5 |
80986 |
6.17391E-5 |
40493 |
0 |
3.97681E-5 |
12-96360285-C-T
|
p.Arg398* |
stop_gained |
AMDHD1 |
12 |
80984 |
1.48177E-4 |
40492 |
0 |
8.24008E-5 |
12-96360286-G-A
|
p.Arg398Gln |
missense+splice_region |
AMDHD1 |
21 |
80982 |
2.59317E-4 |
40491 |
0 |
5.03525E-4 |
12-96361529-TC-T
|
c.1194-4delC |
splice_region |
AMDHD1 |
6 |
79042 |
7.5909E-5 |
39521 |
0 |
2.73286E-4 |
12-96361529-T-TC
|
c.1194-5_1194-4insC |
splice_region |
AMDHD1 |
1 |
79120 |
1.2639E-5 |
39560 |
0 |
NA |
12-96361530-C-T
|
c.1194-4C>T |
splice_region |
AMDHD1 |
309 |
70762 |
0.00436675 |
35381 |
0 |
0.0406348 |
12-96361530-CTA-TTT
|
c.1194-4_1194-2delCTAinsTTT |
splice_acceptor |
AMDHD1 |
1 |
77514 |
1.29009E-5 |
38757 |
0 |
NA |
12-96361530-C-A
|
c.1194-4C>A |
splice_region |
AMDHD1 |
1 |
77518 |
1.29002E-5 |
38759 |
0 |
NA |
12-96361531-TAGATGGGAGCA-T
|
p.Trp399_His401del |
splice_acceptor |
AMDHD1 |
6 |
78366 |
7.65638E-5 |
39183 |
0 |
0.0022315 |
12-96361532-A-T
|
c.1194-2A>T |
splice_acceptor |
AMDHD1 |
7 |
77982 |
8.97643E-5 |
38991 |
0 |
0.0025974 |
12-96361532-A-G
|
c.1194-2A>G |
splice_acceptor |
AMDHD1 |
7 |
78034 |
8.97045E-5 |
39017 |
0 |
9.80777E-5 |
12-96361535-TGGGAGCA-T
|
p.Trp399fs |
frameshift |
AMDHD1 |
1 |
78754 |
1.26978E-5 |
39377 |
0 |
5.45554E-4 |
12-96361553-C-T
|
p.Gln405* |
stop_gained |
AMDHD1 |
1 |
79480 |
1.25818E-5 |
39740 |
0 |
NA |
12-96361559-G-A
|
p.Gly407Arg |
missense |
AMDHD1 |
3 |
79420 |
3.77739E-5 |
39710 |
0 |
3.47657E-5 |
12-96361562-G-C
|
p.Gly408Arg |
missense |
AMDHD1 |
1 |
79724 |
1.25433E-5 |
39862 |
0 |
NA |
12-96361563-G-A
|
p.Gly408Asp |
missense |
AMDHD1 |
1 |
79702 |
1.25467E-5 |
39851 |
0 |
1.29153E-5 |
12-96361579-T-C
|
p.Ile413Ile |
synonymous |
AMDHD1 |
1 |
79912 |
1.25138E-5 |
39956 |
0 |
3.00156E-5 |
12-96361590-T-C
|
p.Ile417Thr |
missense |
AMDHD1 |
1 |
79786 |
1.25335E-5 |
39893 |
0 |
2.57865E-4 |
12-96361604-C-T
|
p.Leu422Phe |
missense |
AMDHD1 |
1 |
79482 |
1.25815E-5 |
39741 |
0 |
NA |
12-96361618-A-G
|
p.Thr426Thr |
synonymous |
AMDHD1 |
1 |
79538 |
1.25726E-5 |
39769 |
0 |
6.40902E-5 |