16-20471442-T-C
|
c.-590T>C |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
77 |
79400 |
9.69773E-4 |
39700 |
0 |
0.00213498 |
16-20471448-G-A
|
p.Leu4Leu |
synonymous |
ACSM2A |
7 |
79404 |
8.81568E-5 |
39702 |
0 |
1.59357E-4 |
16-20471449-C-T
|
p.Arg5* |
stop_gained |
ACSM2A |
5 |
79406 |
6.29675E-5 |
39703 |
0 |
1.85282E-4 |
16-20471450-G-A
|
p.Arg5Gln |
missense |
ACSM2A |
8121 |
75852 |
0.107064 |
37926 |
496 |
0.156464 |
16-20471455-G-A
|
p.Val7Ile |
missense |
ACSM2A |
18 |
79392 |
2.26723E-4 |
39696 |
0 |
3.18654E-4 |
16-20471455-G-T
|
p.Val7Phe |
missense |
ACSM2A |
1 |
79398 |
1.25948E-5 |
39699 |
0 |
NA |
16-20471457-T-C
|
p.Val7Val |
synonymous |
ACSM2A |
22 |
79382 |
2.77141E-4 |
39691 |
1 |
4.14329E-4 |
16-20471461-G-A
|
p.Gly9Arg |
missense |
ACSM2A |
1 |
79370 |
1.25992E-5 |
39685 |
0 |
6.69266E-5 |
16-20471480-G-T
|
p.Gly15Val |
missense |
ACSM2A |
1 |
79216 |
1.26237E-5 |
39608 |
0 |
NA |
16-20471483-C-G
|
p.Thr16Ser |
missense |
ACSM2A |
2 |
79176 |
2.52602E-5 |
39588 |
0 |
8.36568E-6 |
16-20471487-G-C
|
p.Gln17His |
missense |
ACSM2A |
567 |
79006 |
0.00717667 |
39503 |
18 |
0.0161301 |
16-20471493-C-T
|
p.Ser19Ser |
synonymous |
ACSM2A |
3 |
79076 |
3.79382E-5 |
39538 |
0 |
4.01445E-6 |
16-20471498-G-A
|
p.Arg21His |
missense |
ACSM2A |
2 |
78904 |
2.53473E-5 |
39452 |
0 |
5.04058E-5 |
16-20471506-T-C
|
p.Tyr24His |
missense |
ACSM2A |
19 |
78682 |
2.41478E-4 |
39341 |
0 |
8.41354E-4 |
16-20471508-C-G
|
p.Tyr24* |
stop_gained |
ACSM2A |
12 |
78628 |
1.52617E-4 |
39314 |
0 |
2.27242E-4 |
16-20471524-C-T
|
c.-508C>T |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
78074 |
1.28084E-5 |
39037 |
0 |
8.45351E-6 |
16-20471543-GCCAC-G
|
p.His37fs |
frameshift |
ACSM2A |
1 |
78354 |
1.27626E-5 |
39177 |
0 |
NA |
16-20471543-GCCA-G
|
p.His37del |
disruptive_inframe_deletion |
ACSM2A |
5 |
78352 |
6.38146E-5 |
39176 |
0 |
3.18654E-5 |
16-20471545-C-T
|
p.His37Tyr |
missense |
ACSM2A |
1 |
78454 |
1.27463E-5 |
39227 |
0 |
8.0601E-6 |
16-20471556-G-T
|
p.Val40Val |
synonymous |
ACSM2A |
18 |
78900 |
2.28137E-4 |
39450 |
0 |
0.00243902 |
16-20471558-C-A
|
p.Pro41Gln |
missense |
ACSM2A |
1 |
79014 |
1.2656E-5 |
39507 |
0 |
4.41129E-5 |
16-20471559-G-A
|
p.Pro41Pro |
synonymous |
ACSM2A |
2 |
79050 |
2.53004E-5 |
39525 |
0 |
3.18573E-5 |
16-20471559-G-C
|
p.Pro41Pro |
synonymous |
ACSM2A |
2 |
79048 |
2.53011E-5 |
39524 |
0 |
2.40527E-5 |
16-20471568-T-C
|
p.Phe44Phe |
synonymous |
ACSM2A |
90 |
79140 |
0.00113723 |
39570 |
2 |
0.00910194 |
16-20471591-A-G
|
p.Asp52Gly |
missense |
ACSM2A |
2 |
79342 |
2.52073E-5 |
39671 |
0 |
8.33931E-6 |
16-20471595-C-T
|
c.-437C>T |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
79348 |
1.26027E-5 |
39674 |
0 |
6.78134E-5 |
16-20471605-A-G
|
p.Met57Val |
missense |
ACSM2A |
5 |
79352 |
6.30104E-5 |
39676 |
0 |
5.96659E-4 |
16-20476833-C-G
|
c.178-6C>G |
splice_region |
ACSM2A |
1 |
79416 |
1.25919E-5 |
39708 |
0 |
1.19665E-5 |
16-20476836-C-T
|
c.178-3C>T |
splice_region |
ACSM2A |
9 |
79422 |
1.13319E-4 |
39711 |
0 |
0.00438596 |
16-20476840-C-T
|
p.Ala60Val |
missense+splice_region |
ACSM2A |
47 |
79432 |
5.91701E-4 |
39716 |
0 |
3.18492E-4 |
16-20476848-C-A
|
p.Arg63Arg |
synonymous |
ACSM2A |
7 |
79428 |
8.81301E-5 |
39714 |
0 |
1.59286E-4 |
16-20476848-C-T
|
p.Arg63* |
stop_gained |
ACSM2A |
1 |
79430 |
1.25897E-5 |
39715 |
0 |
5.82072E-4 |
16-20476850-A-T
|
p.Arg63Arg |
synonymous |
ACSM2A |
1 |
79444 |
1.25875E-5 |
39722 |
0 |
NA |
16-20476851-C-T
|
p.Leu64Phe |
missense |
ACSM2A |
3 |
79448 |
3.77605E-5 |
39724 |
0 |
0.00173812 |
16-20476852-T-C
|
p.Leu64Pro |
missense |
ACSM2A |
24680 |
75884 |
0.325233 |
37942 |
4342 |
0.393819 |
16-20476862-A-C
|
p.Pro67Pro |
synonymous |
ACSM2A |
2 |
79492 |
2.51598E-5 |
39746 |
0 |
NA |
16-20476889-G-A
|
p.Gly76Gly |
synonymous |
ACSM2A |
38 |
79458 |
4.7824E-4 |
39729 |
0 |
8.60092E-4 |
16-20476893-G-A
|
p.Glu78Lys |
missense |
ACSM2A |
1560 |
79290 |
0.0196746 |
39645 |
14 |
0.0325 |
16-20476900-T-G
|
p.Met1? |
start_lost |
ACSM2A |
1 |
79458 |
1.25853E-5 |
39729 |
0 |
NA |
16-20476905-A-C
|
p.Asn82His |
missense |
ACSM2A |
1 |
79462 |
1.25846E-5 |
39731 |
0 |
NA |
16-20476912-G-A
|
p.Arg84Lys |
missense |
ACSM2A |
17 |
79468 |
2.13923E-4 |
39734 |
0 |
7.96267E-6 |
16-20476914-G-C
|
p.Glu85Gln |
missense |
ACSM2A |
17 |
79454 |
2.1396E-4 |
39727 |
0 |
NA |
16-20476917-C-A
|
p.Leu86Met |
missense |
ACSM2A |
1 |
79466 |
1.2584E-5 |
39733 |
0 |
3.29587E-5 |
16-20476935-C-T
|
p.Gln92* |
stop_gained |
ACSM2A |
1 |
79478 |
1.25821E-5 |
39739 |
0 |
NA |
16-20476938-G-A
|
p.Ala93Thr |
missense |
ACSM2A |
23 |
79482 |
2.89374E-4 |
39741 |
0 |
3.18451E-4 |
16-20476946-C-T
|
c.-311C>T |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
79504 |
1.2578E-5 |
39752 |
0 |
5.64972E-4 |
16-20476947-G-A
|
p.Val96Ile |
missense |
ACSM2A |
2 |
79498 |
2.51579E-5 |
39749 |
0 |
0.0011325 |
16-20476954-C-A
|
p.Ser98* |
stop_gained |
ACSM2A |
2 |
79484 |
2.51623E-5 |
39742 |
0 |
3.98168E-6 |
16-20476954-C-T
|
p.Ser98Leu |
missense |
ACSM2A |
4 |
79484 |
5.03246E-5 |
39742 |
0 |
6.25E-4 |
16-20476955-G-A
|
p.Ser98Ser |
synonymous |
ACSM2A |
2 |
79482 |
2.51629E-5 |
39741 |
0 |
4.11963E-5 |
16-20476956-G-C
|
p.Gly99Arg |
missense |
ACSM2A |
2 |
79486 |
2.51617E-5 |
39743 |
0 |
5.67537E-4 |
16-20476960-C-T
|
p.Ala100Val |
missense |
ACSM2A |
16 |
79490 |
2.01283E-4 |
39745 |
0 |
0.00125 |
16-20476974-C-T
|
p.Arg105Cys |
missense |
ACSM2A |
214 |
79436 |
0.00269399 |
39718 |
0 |
0.00586062 |
16-20476975-G-A
|
p.Arg105His |
missense |
ACSM2A |
1 |
79454 |
1.25859E-5 |
39727 |
0 |
1.11487E-4 |
16-20476983-C-A
|
p.Arg108Ser |
missense |
ACSM2A |
6 |
79444 |
7.55249E-5 |
39722 |
0 |
9.07142E-5 |
16-20476983-C-T
|
p.Arg108Cys |
missense |
ACSM2A |
2 |
79444 |
2.5175E-5 |
39722 |
0 |
3.2987E-5 |
16-20476984-G-C
|
p.Arg108Pro |
missense |
ACSM2A |
14 |
79436 |
1.76243E-4 |
39718 |
0 |
6.37024E-4 |
16-20476988-G-A
|
p.Val109Val |
synonymous |
ACSM2A |
1 |
79448 |
1.25868E-5 |
39724 |
0 |
8.24906E-6 |
16-20476995-G-A
|
p.Val112Met |
missense |
ACSM2A |
21 |
78870 |
2.66261E-4 |
39435 |
0 |
0.36375 |
16-20477002-C-T
|
p.Pro114Leu |
missense |
ACSM2A |
5 |
79402 |
6.29707E-5 |
39701 |
0 |
7.96559E-6 |
16-20477004-C-T
|
p.Arg115* |
stop_gained |
ACSM2A |
934 |
79308 |
0.0117769 |
39654 |
39 |
0.0260426 |
16-20477005-G-A
|
p.Arg115Gln |
missense |
ACSM2A |
6 |
79390 |
7.55763E-5 |
39695 |
0 |
2.22987E-4 |
16-20477007-G-C
|
p.Val116Leu |
missense |
ACSM2A |
2 |
79390 |
2.51921E-5 |
39695 |
0 |
3.98286E-6 |
16-20477019-TGGCTGGTGATCCTG-T
|
p.Val122fs |
frameshift |
ACSM2A |
3 |
79332 |
3.78158E-5 |
39666 |
0 |
NA |
16-20477021-G-A
|
p.Trp120* |
stop_gained |
ACSM2A |
334 |
79280 |
0.00421292 |
39640 |
1 |
0.00519009 |
16-20477026-T-C
|
p.Val122Ala |
missense |
ACSM2A |
1 |
79244 |
1.26193E-5 |
39622 |
0 |
NA |
16-20477029-T-A
|
p.Ile123Asn |
missense |
ACSM2A |
1 |
79230 |
1.26215E-5 |
39615 |
0 |
1.67367E-5 |
16-20477036-C-T
|
c.-221C>T |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
2 |
79152 |
2.52678E-5 |
39576 |
0 |
3.98998E-6 |
16-20477043-C-T
|
p.Arg128* |
stop_gained |
ACSM2A |
3 |
79120 |
3.79171E-5 |
39560 |
0 |
3.19652E-5 |
16-20477049-G-A
|
p.Gly130Ser |
missense+splice_region |
ACSM2A |
1 |
79070 |
1.2647E-5 |
39535 |
0 |
3.18532E-5 |
16-20477053-G-A
|
c.388+4G>A |
splice_region |
ACSM2A |
2 |
79042 |
2.5303E-5 |
39521 |
0 |
NA |
16-20480827-TC-T
|
c.389-6delC |
splice_region |
ACSM2A |
2 |
79310 |
2.52175E-5 |
39655 |
0 |
8.28295E-6 |
16-20480837-T-C
|
p.Leu131Pro |
missense |
ACSM2A |
1 |
79308 |
1.26091E-5 |
39654 |
0 |
NA |
16-20480863-A-T
|
p.Met140Leu |
missense |
ACSM2A |
3 |
79328 |
3.78177E-5 |
39664 |
0 |
3.18512E-5 |
16-20480870-C-T
|
p.Ser142Phe |
missense |
ACSM2A |
1 |
79308 |
1.26091E-5 |
39654 |
0 |
8.28514E-6 |
16-20480883-G-T
|
p.Leu146Leu |
synonymous |
ACSM2A |
1 |
79304 |
1.26097E-5 |
39652 |
0 |
3.98756E-6 |
16-20480886-T-C
|
p.Tyr147Tyr |
synonymous |
ACSM2A |
2 |
79306 |
2.52188E-5 |
39653 |
0 |
NA |
16-20480894-A-T
|
p.Gln150Leu |
missense |
ACSM2A |
1 |
79278 |
1.26138E-5 |
39639 |
0 |
NA |
16-20480905-G-A
|
p.Ala154Thr |
missense |
ACSM2A |
1 |
79274 |
1.26145E-5 |
39637 |
0 |
NA |
16-20480922-T-C
|
p.Ala159Ala |
synonymous |
ACSM2A |
2 |
79340 |
2.5208E-5 |
39670 |
0 |
3.18451E-5 |
16-20480924-G-A
|
p.Gly160Glu |
missense |
ACSM2A |
1 |
79348 |
1.26027E-5 |
39674 |
0 |
3.18552E-5 |
16-20480942-A-G
|
p.Glu166Gly |
missense |
ACSM2A |
1 |
79402 |
1.25941E-5 |
39701 |
0 |
8.23913E-6 |
16-20480944-G-A
|
p.Val167Met |
missense |
ACSM2A |
4 |
79404 |
5.03753E-5 |
39702 |
0 |
1.07509E-4 |
16-20480953-G-A
|
p.Val170Met |
missense |
ACSM2A |
1 |
79430 |
1.25897E-5 |
39715 |
0 |
8.23737E-6 |
16-20480956-G-A
|
p.Ala171Thr |
missense |
ACSM2A |
6 |
79440 |
7.55287E-5 |
39720 |
0 |
3.58352E-5 |
16-20480960-C-T
|
p.Ser172Phe |
missense |
ACSM2A |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
NA |
16-20480964-A-C
|
p.Glu173Asp |
missense |
ACSM2A |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
1.47321E-4 |
16-20480966-G-A
|
p.Cys174Tyr |
missense |
ACSM2A |
3 |
79468 |
3.7751E-5 |
39734 |
0 |
3.2649E-4 |
16-20480968-C-T
|
p.Pro175Ser |
missense |
ACSM2A |
2 |
79474 |
2.51655E-5 |
39737 |
0 |
7.16686E-5 |
16-20480978-G-T
|
p.Arg178Ile |
missense |
ACSM2A |
1 |
79488 |
1.25805E-5 |
39744 |
0 |
3.18512E-5 |
16-20480984-A-G
|
p.Lys180Arg |
missense |
ACSM2A |
1 |
79498 |
1.25789E-5 |
39749 |
0 |
3.18532E-5 |
16-20480988-A-G
|
c.-53A>G |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
79492 |
1.25799E-5 |
39746 |
0 |
NA |
16-20481004-A-T
|
p.Ser187Cys |
missense |
ACSM2A |
1 |
79518 |
1.25758E-5 |
39759 |
0 |
NA |
16-20481005-G-T
|
p.Ser187Ile |
missense |
ACSM2A |
1 |
79516 |
1.25761E-5 |
39758 |
0 |
5.76549E-5 |
16-20481006-C-T
|
c.-35C>T |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
79524 |
1.25748E-5 |
39762 |
0 |
NA |
16-20481008-G-A
|
p.Cys188Tyr |
missense |
ACSM2A |
2 |
79526 |
2.5149E-5 |
39763 |
0 |
5.76549E-5 |
16-20481009-T-C
|
p.Cys188Cys |
synonymous |
ACSM2A |
60 |
79446 |
7.5523E-4 |
39723 |
0 |
3.37749E-4 |
16-20481011-A-G
|
p.Asp189Gly |
missense |
ACSM2A |
1 |
79526 |
1.25745E-5 |
39763 |
0 |
8.23642E-6 |
16-20481012-T-C
|
p.Asp189Asp |
synonymous |
ACSM2A |
35 |
79524 |
4.40119E-4 |
39762 |
0 |
3.14548E-4 |
16-20481014-G-C
|
p.Gly190Ala |
missense |
ACSM2A |
1 |
79520 |
1.25755E-5 |
39760 |
0 |
1.64731E-5 |
16-20481018-G-T
|
p.Trp191Cys |
missense |
ACSM2A |
1 |
79518 |
1.25758E-5 |
39759 |
0 |
NA |
16-20481021-G-A
|
p.Leu192Leu |
synonymous |
ACSM2A |
1 |
79518 |
1.25758E-5 |
39759 |
0 |
NA |
16-20481027-C-G
|
p.Phe194Leu |
missense |
ACSM2A |
6 |
79504 |
7.54679E-5 |
39752 |
0 |
6.37674E-5 |
16-20481039-A-G
|
c.-2A>G |
5_prime_UTR_premature_start_codon_gain |
ACSM2A |
1 |
79482 |
1.25815E-5 |
39741 |
0 |
NA |
16-20481042-G-A
|
c.596+1G>A |
splice_donor |
ACSM2A |
3 |
79484 |
3.77434E-5 |
39742 |
0 |
1.40054E-4 |
16-20481045-A-G
|
c.596+4A>G |
splice_region |
ACSM2A |
1 |
79484 |
1.25811E-5 |
39742 |
0 |
NA |
16-20481049-T-A
|
c.596+8T>A |
splice_region |
ACSM2A |
1 |
79488 |
1.25805E-5 |
39744 |
0 |
4.12031E-5 |
16-20482133-T-C
|
c.597-5T>C |
splice_region |
ACSM2A |
10 |
30572 |
3.27097E-4 |
15286 |
0 |
0.00114628 |
16-20482143-A-G
|
p.Lys201Arg |
missense |
ACSM2A |
1 |
34932 |
2.8627E-5 |
17466 |
0 |
NA |
16-20482153-C-G
|
p.His204Gln |
missense |
ACSM2A |
211 |
39822 |
0.00529858 |
19911 |
0 |
0.0103224 |
16-20482157-G-C
|
p.Asp206His |
missense |
ACSM2A |
1 |
41886 |
2.38743E-5 |
20943 |
0 |
4.51957E-5 |
16-20482158-A-T
|
p.Asp206Val |
missense |
ACSM2A |
3 |
42320 |
7.08885E-5 |
21160 |
0 |
2.2589E-4 |
16-20482159-C-A
|
p.Asp206Glu |
missense |
ACSM2A |
18 |
42762 |
4.20934E-4 |
21381 |
1 |
0.00124228 |
16-20482159-C-T
|
p.Asp206Asp |
synonymous |
ACSM2A |
1 |
42764 |
2.33842E-5 |
21382 |
0 |
0.00125078 |
16-20482160-G-A
|
p.Val207Ile |
missense |
ACSM2A |
2 |
43320 |
4.61681E-5 |
21660 |
0 |
8.5034E-5 |
16-20482281-G-T
|
c.*112+1G>T |
splice_donor |
ACSM2A |
2 |
72072 |
2.775E-5 |
36036 |
0 |
3.1835E-5 |
16-20482283-G-A
|
c.*112+3G>A |
splice_region |
ACSM2A |
1 |
72430 |
1.38064E-5 |
36215 |
0 |
NA |
16-20482288-C-A
|
c.*112+8C>A |
splice_region |
ACSM2A |
1 |
73194 |
1.36623E-5 |
36597 |
0 |
NA |
16-20482388-C-T
|
c.597-7C>T |
splice_region |
ACSM2A |
9 |
80166 |
1.12267E-4 |
40083 |
0 |
7.44306E-5 |
16-20482400-C-G
|
p.Ala201Gly |
missense |
ACSM2A |
20 |
80312 |
2.49029E-4 |
40156 |
0 |
1.51577E-4 |
16-20482408-A-G
|
p.Thr204Ala |
missense |
ACSM2A |
1 |
80446 |
1.24307E-5 |
40223 |
0 |
NA |
16-20482412-A-T
|
p.His205Leu |
missense |
ACSM2A |
1 |
80474 |
1.24264E-5 |
40237 |
0 |
3.18492E-5 |
16-20482415-A-G
|
p.His206Arg |
missense |
ACSM2A |
1 |
80504 |
1.24217E-5 |
40252 |
0 |
NA |
16-20482420-G-A
|
p.Val208Met |
missense |
ACSM2A |
1 |
80518 |
1.24196E-5 |
40259 |
0 |
8.27198E-6 |
16-20482421-T-A
|
p.Val208Glu |
missense |
ACSM2A |
1 |
80516 |
1.24199E-5 |
40258 |
0 |
3.18552E-5 |
16-20482422-G-A
|
p.Trp10* |
stop_gained |
ACSM2A |
1 |
80530 |
1.24177E-5 |
40265 |
0 |
NA |
16-20482423-G-A
|
p.Trp10* |
stop_gained |
ACSM2A |
1 |
80522 |
1.2419E-5 |
40261 |
0 |
3.98695E-6 |
16-20482432-A-G
|
p.Ser212Gly |
missense |
ACSM2A |
1 |
80606 |
1.2406E-5 |
40303 |
0 |
1.9938E-5 |
16-20482444-T-A
|
p.Ser216Thr |
missense |
ACSM2A |
1 |
80664 |
1.23971E-5 |
40332 |
0 |
NA |
16-20482456-T-C
|
p.Phe220Leu |
missense |
ACSM2A |
1 |
80666 |
1.23968E-5 |
40333 |
0 |
NA |
16-20482463-G-C
|
p.Ser222Thr |
missense |
ACSM2A |
131 |
80624 |
0.00162483 |
40312 |
1 |
8.25458E-4 |
16-20482464-TG-T
|
p.Thr224fs |
frameshift |
ACSM2A |
1 |
80666 |
1.23968E-5 |
40333 |
0 |
8.28679E-6 |
16-20482502-A-G
|
p.Tyr235Cys |
missense |
ACSM2A |
5 |
80750 |
6.19195E-5 |
40375 |
0 |
5.0813E-4 |
16-20482518-C-G
|
c.40-4C>G |
splice_region |
ACSM2A |
5 |
80800 |
6.18812E-5 |
40400 |
0 |
5.06073E-4 |
16-20482519-A-G
|
p.Lys241Glu |
missense |
ACSM2A |
1 |
80788 |
1.23781E-5 |
40394 |
0 |
4.17837E-5 |
16-20482529-T-A
|
p.Met244Lys |
missense |
ACSM2A |
2 |
80806 |
2.47506E-5 |
40403 |
0 |
8.37072E-6 |
16-20482539-G-A
|
c.740+1G>A |
splice_donor |
ACSM2A |
4 |
80820 |
4.94927E-5 |
40410 |
0 |
9.55718E-5 |
16-20482543-G-A
|
c.740+5G>A |
splice_region |
ACSM2A |
1 |
80810 |
1.23747E-5 |
40405 |
0 |
NA |
16-20482544-C-T
|
c.740+6C>T |
splice_region |
ACSM2A |
1 |
80808 |
1.2375E-5 |
40404 |
0 |
NA |
16-20482858-T-C
|
p.Gly247Gly |
splice_region+synonymous |
ACSM2A |
1 |
80902 |
1.23606E-5 |
40451 |
0 |
NA |
16-20482895-A-G
|
p.Ile260Val |
missense |
ACSM2A |
5 |
81038 |
6.16995E-5 |
40519 |
0 |
3.18451E-5 |
16-20482896-T-C
|
p.Ile260Thr |
missense |
ACSM2A |
1 |
81038 |
1.23399E-5 |
40519 |
0 |
6.25E-4 |
16-20482901-G-C
|
p.Asp262His |
missense |
ACSM2A |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
16-20482913-A-C
|
p.Ile266Leu |
missense |
ACSM2A |
8 |
81062 |
9.86899E-5 |
40531 |
0 |
1.27397E-4 |
16-20482919-A-G
|
p.Asn268Asp |
missense |
ACSM2A |
3 |
81068 |
3.7006E-5 |
40534 |
0 |
5.76815E-5 |
16-20482920-A-G
|
p.Asn268Ser |
missense |
ACSM2A |
4 |
81070 |
4.93401E-5 |
40535 |
0 |
1.64802E-5 |
16-20482927-G-C
|
p.Leu270Phe |
missense |
ACSM2A |
48 |
81070 |
5.92081E-4 |
40535 |
0 |
0.00375 |
16-20482928-T-G
|
p.Cys271Gly |
missense |
ACSM2A |
72 |
81048 |
8.88362E-4 |
40524 |
1 |
0.00654582 |
16-20482934-CT-C
|
p.Met274fs |
frameshift |
ACSM2A |
6 |
81080 |
7.4001E-5 |
40540 |
0 |
3.18451E-5 |
16-20482943-C-A
|
p.Pro276Thr |
missense |
ACSM2A |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
5.17034E-5 |
16-20482943-C-G
|
p.Pro276Ala |
missense |
ACSM2A |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
NA |
16-20482948-G-A
|
p.Trp277* |
stop_gained |
ACSM2A |
3 |
81080 |
3.70005E-5 |
40540 |
0 |
8.23995E-6 |
16-20482949-G-T
|
p.Ala278Ser |
missense |
ACSM2A |
7 |
81080 |
8.63345E-5 |
40540 |
0 |
5.03525E-4 |
16-20482952-T-C
|
p.Leu279Leu |
synonymous |
ACSM2A |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
16-20482959-C-T
|
p.Ala281Val |
missense |
ACSM2A |
3 |
81078 |
3.70014E-5 |
40539 |
0 |
6.25E-4 |
16-20482960-A-G
|
p.Ala281Ala |
synonymous |
ACSM2A |
1 |
81076 |
1.23341E-5 |
40538 |
0 |
NA |
16-20482961-T-C
|
p.Cys282Arg |
missense |
ACSM2A |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
3.97772E-6 |
16-20482970-G-C
|
p.Val285Leu |
missense |
ACSM2A |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
8.24974E-6 |
16-20482973-C-T
|
p.His286Tyr |
missense |
ACSM2A |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
1.19379E-5 |
16-20482985-A-C
|
p.Lys290Gln |
missense |
ACSM2A |
1 |
81058 |
1.23368E-5 |
40529 |
0 |
NA |
16-20482993-C-A
|
p.Asp292Glu |
missense |
ACSM2A |
1 |
81054 |
1.23375E-5 |
40527 |
0 |
1.66622E-5 |
16-20483000-G-T
|
p.Val295Phe |
missense |
ACSM2A |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
NA |
16-20483006-C-T
|
p.Leu297Leu |
synonymous |
ACSM2A |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
NA |
16-20483011-G-A
|
p.Lys298Lys |
splice_region+synonymous |
ACSM2A |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
4.05966E-6 |
16-20483016-G-A
|
c.894+5G>A |
splice_region |
ACSM2A |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
3.18573E-5 |
16-20486702-A-G
|
p.Ile305Val |
missense |
ACSM2A |
1 |
78538 |
1.27327E-5 |
39269 |
0 |
0.00585374 |
16-20486718-G-A
|
p.Gly310Asp |
missense |
ACSM2A |
1 |
79294 |
1.26113E-5 |
39647 |
0 |
NA |
16-20486720-G-GC
|
p.Ile313fs |
frameshift |
ACSM2A |
1 |
79316 |
1.26078E-5 |
39658 |
0 |
NA |
16-20486725-C-T
|
p.Pro312Pro |
synonymous |
ACSM2A |
6 |
79318 |
7.56449E-5 |
39659 |
0 |
5.74053E-4 |
16-20486732-T-A
|
p.Tyr315Asn |
missense |
ACSM2A |
1 |
79300 |
1.26103E-5 |
39650 |
0 |
3.18451E-5 |
16-20486735-C-T
|
p.Arg316Trp |
missense |
ACSM2A |
1 |
79292 |
1.26116E-5 |
39646 |
0 |
1.48368E-4 |
16-20486736-G-A
|
p.Arg316Gln |
missense |
ACSM2A |
4 |
79284 |
5.04515E-5 |
39642 |
0 |
5.17718E-5 |
16-20486736-G-T
|
p.Arg316Leu |
missense |
ACSM2A |
1 |
79280 |
1.26135E-5 |
39640 |
0 |
NA |
16-20486738-A-C
|
p.Met317Leu |
missense |
ACSM2A |
2 |
79270 |
2.52302E-5 |
39635 |
0 |
8.24321E-6 |
16-20486766-G-C
|
c.974+3G>C |
splice_region |
ACSM2A |
2 |
78984 |
2.53216E-5 |
39492 |
0 |
6.25E-4 |
16-20486768-T-C
|
c.974+5T>C |
splice_region |
ACSM2A |
5 |
78932 |
6.33457E-5 |
39466 |
0 |
1.19538E-5 |
16-20486966-C-T
|
c.975-6C>T |
splice_region |
ACSM2A |
2 |
80952 |
2.4706E-5 |
40476 |
0 |
3.98241E-6 |
16-20486980-TC-T
|
p.His330fs |
frameshift |
ACSM2A |
1 |
80952 |
1.2353E-5 |
40476 |
0 |
1.19428E-5 |
16-20486980-T-TC
|
p.His330fs |
frameshift |
ACSM2A |
1 |
80950 |
1.23533E-5 |
40475 |
0 |
NA |
16-20486983-C-T
|
p.Pro329Leu |
missense |
ACSM2A |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
8.23968E-6 |
16-20486999-C-T
|
p.Cys334Cys |
synonymous |
ACSM2A |
93 |
80966 |
0.00114863 |
40483 |
0 |
0.00146786 |
16-20487000-G-A
|
p.Val335Ile |
missense |
ACSM2A |
23 |
80966 |
2.8407E-4 |
40483 |
0 |
2.22958E-4 |
16-20487003-A-C
|
p.Thr336Pro |
missense |
ACSM2A |
1 |
80976 |
1.23493E-5 |
40488 |
0 |
NA |
16-20487009-G-A
|
p.Gly338Arg |
missense |
ACSM2A |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
NA |
16-20487011-G-C
|
p.Gly338Gly |
synonymous |
ACSM2A |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
4.94242E-5 |
16-20487012-G-T
|
p.Glu339* |
stop_gained |
ACSM2A |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
4.94234E-5 |
16-20487016-C-A
|
p.Ser340Tyr |
missense |
ACSM2A |
5 |
80970 |
6.17513E-5 |
40485 |
0 |
4.37501E-5 |
16-20487017-C-T
|
p.Ser340Ser |
synonymous |
ACSM2A |
5 |
80968 |
6.17528E-5 |
40484 |
0 |
5.76635E-5 |
16-20487018-C-T
|
p.Leu341Phe |
missense |
ACSM2A |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
NA |
16-20487019-T-C
|
p.Leu341Pro |
missense |
ACSM2A |
1 |
80958 |
1.23521E-5 |
40479 |
0 |
NA |
16-20487033-C-T
|
p.Leu346Leu |
synonymous |
ACSM2A |
402 |
80944 |
0.0049664 |
40472 |
5 |
0.00971585 |
16-20487038-G-A
|
p.Glu347Glu |
synonymous |
ACSM2A |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
5.03525E-4 |
16-20487058-G-T
|
p.Gly354Val |
missense |
ACSM2A |
2 |
80940 |
2.47097E-5 |
40470 |
0 |
9.55414E-5 |
16-20487065-C-T
|
p.Asp356Asp |
synonymous |
ACSM2A |
4 |
80946 |
4.94157E-5 |
40473 |
0 |
1.98881E-5 |
16-20487069-C-T
|
p.Arg358* |
stop_gained |
ACSM2A |
7 |
80936 |
8.64881E-5 |
40468 |
0 |
0.00100705 |
16-20487069-C-G
|
p.Arg358Gly |
missense |
ACSM2A |
2 |
80938 |
2.47103E-5 |
40469 |
0 |
1.98896E-5 |
16-20487070-G-C
|
p.Arg358Pro |
missense |
ACSM2A |
4 |
80936 |
4.94218E-5 |
40468 |
0 |
3.295E-5 |
16-20487070-G-A
|
p.Arg358Gln |
missense |
ACSM2A |
2 |
80936 |
2.47109E-5 |
40468 |
0 |
1.6475E-5 |
16-20487076-C-T
|
p.Ser360Phe |
missense |
ACSM2A |
3 |
80786 |
3.71351E-5 |
40393 |
0 |
0.00251762 |
16-20487086-G-A
|
p.Gln363Gln |
synonymous |
ACSM2A |
4 |
80920 |
4.94315E-5 |
40460 |
0 |
3.29576E-5 |
16-20487088-C-G
|
p.Thr364Arg |
missense |
ACSM2A |
1 |
80924 |
1.23573E-5 |
40462 |
0 |
6.36983E-5 |
16-20487094-C-T
|
p.Thr366Met |
missense+splice_region |
ACSM2A |
42 |
80916 |
5.19057E-4 |
40458 |
0 |
4.03791E-4 |
16-20487095-G-A
|
p.Thr366Thr |
splice_region+synonymous |
ACSM2A |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
3.18634E-5 |
16-20487096-G-C
|
c.1098+1G>C |
splice_donor |
ACSM2A |
1 |
80918 |
1.23582E-5 |
40459 |
0 |
NA |
16-20487102-G-T
|
c.1098+7G>T |
splice_region |
ACSM2A |
1 |
80912 |
1.23591E-5 |
40456 |
0 |
NA |
16-20487103-T-C
|
c.1098+8T>C |
splice_region |
ACSM2A |
1 |
80912 |
1.23591E-5 |
40456 |
0 |
7.97747E-6 |
16-20487979-G-A
|
n.1291G>A |
splice_region |
ACSM2A |
1 |
38288 |
2.61178E-5 |
19144 |
0 |
NA |
16-20487986-G-C
|
n.1293+5G>C |
splice_region |
ACSM2A |
1 |
40226 |
2.48595E-5 |
20113 |
0 |
NA |
16-20487988-G-C
|
n.1293+7G>C |
splice_region |
ACSM2A |
2 |
40780 |
4.90437E-5 |
20390 |
0 |
4.78225E-4 |
16-20487989-G-A
|
n.1293+8G>A |
splice_region |
ACSM2A |
4 |
41030 |
9.74896E-5 |
20515 |
0 |
4.14567E-4 |
16-20488694-T-C
|
p.Leu368Leu |
synonymous |
ACSM2A |
1 |
77116 |
1.29675E-5 |
38558 |
0 |
4.56729E-6 |
16-20488696-A-G
|
p.Leu368Leu |
synonymous |
ACSM2A |
24456 |
75602 |
0.323483 |
37801 |
4291 |
0.37496 |
16-20488702-C-T
|
p.Cys370Cys |
synonymous |
ACSM2A |
1 |
77374 |
1.29242E-5 |
38687 |
0 |
NA |
16-20488704-T-C
|
p.Met371Thr |
missense |
ACSM2A |
1 |
77436 |
1.29139E-5 |
38718 |
0 |
NA |
16-20488704-T-A
|
p.Met371Lys |
missense |
ACSM2A |
1 |
77436 |
1.29139E-5 |
38718 |
0 |
NA |
16-20488708-T-C
|
p.Val372Val |
synonymous |
ACSM2A |
1 |
77470 |
1.29082E-5 |
38735 |
0 |
NA |
16-20488715-A-G
|
p.Thr375Ala |
missense |
ACSM2A |
4 |
77592 |
5.15517E-5 |
38796 |
0 |
3.48736E-5 |
16-20488716-C-T
|
p.Thr375Ile |
missense |
ACSM2A |
1 |
77648 |
1.28786E-5 |
38824 |
0 |
NA |
16-20488731-C-T
|
p.Pro380Leu |
missense |
ACSM2A |
2 |
78438 |
2.54978E-5 |
39219 |
0 |
1.68552E-5 |
16-20488732-A-G
|
p.Pro380Pro |
synonymous |
ACSM2A |
1 |
78556 |
1.27298E-5 |
39278 |
0 |
4.20801E-6 |
16-20488741-G-T
|
p.Met383Ile |
missense |
ACSM2A |
2 |
79066 |
2.52953E-5 |
39533 |
0 |
3.18573E-5 |
16-20488746-C-T
|
p.Thr385Met |
missense |
ACSM2A |
4 |
79156 |
5.05331E-5 |
39578 |
0 |
6.25E-4 |
16-20488747-G-T
|
p.Thr385Thr |
synonymous |
ACSM2A |
2 |
79210 |
2.52493E-5 |
39605 |
0 |
1.56631E-4 |
16-20488754-T-C
|
p.Ser388Pro |
missense |
ACSM2A |
2 |
79386 |
2.51934E-5 |
39693 |
0 |
3.18593E-5 |
16-20488755-C-T
|
p.Ser388Phe |
missense |
ACSM2A |
1 |
79388 |
1.25964E-5 |
39694 |
0 |
4.34892E-6 |
16-20488763-G-A
|
p.Asp391Asn |
missense |
ACSM2A |
1 |
79556 |
1.25698E-5 |
39778 |
0 |
NA |
16-20488776-G-T
|
c.1179+5G>T |
splice_region |
ACSM2A |
6 |
79438 |
7.55306E-5 |
39719 |
0 |
8.6411E-6 |
16-20488779-C-G
|
c.1179+8C>G |
splice_region |
ACSM2A |
1 |
79382 |
1.25973E-5 |
39691 |
0 |
8.84956E-6 |
16-20488779-C-T
|
c.1179+8C>T |
splice_region |
ACSM2A |
1 |
79382 |
1.25973E-5 |
39691 |
0 |
3.4503E-4 |
16-20489890-T-C
|
c.1180-8T>C |
splice_region |
ACSM2A |
3 |
80724 |
3.71637E-5 |
40362 |
0 |
6.25E-4 |
16-20489896-A-C
|
c.1180-2A>C |
splice_acceptor |
ACSM2A |
3 |
80772 |
3.71416E-5 |
40386 |
0 |
9.55414E-5 |
16-20489898-A-C
|
p.Ile394Leu |
missense+splice_region |
ACSM2A |
1 |
80786 |
1.23784E-5 |
40393 |
0 |
1.65681E-5 |
16-20489899-T-G
|
p.Ile394Ser |
missense+splice_region |
ACSM2A |
3 |
80792 |
3.71324E-5 |
40396 |
0 |
3.58609E-5 |
16-20489906-T-C
|
p.Asp396Asp |
synonymous |
ACSM2A |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
NA |
16-20489911-AG-A
|
p.Gly399fs |
frameshift |
ACSM2A |
1 |
80796 |
1.23769E-5 |
40398 |
0 |
NA |
16-20489913-G-A
|
p.Gly399Ser |
missense |
ACSM2A |
1 |
80794 |
1.23772E-5 |
40397 |
0 |
3.98289E-6 |
16-20489915-C-T
|
p.Gly399Gly |
synonymous |
ACSM2A |
2 |
80794 |
2.47543E-5 |
40397 |
0 |
7.96546E-6 |
16-20489918-C-T
|
p.Asn400Asn |
synonymous |
ACSM2A |
3 |
80818 |
3.71204E-5 |
40409 |
0 |
3.58392E-5 |
16-20489919-G-A
|
p.Val401Ile |
missense |
ACSM2A |
23 |
80812 |
2.84611E-4 |
40406 |
0 |
3.50388E-4 |
16-20489924-G-GC
|
p.Gly405fs |
frameshift |
ACSM2A |
2 |
80804 |
2.47513E-5 |
40402 |
0 |
8.26337E-6 |
16-20489924-GC-G
|
p.Gly405fs |
frameshift |
ACSM2A |
2 |
80818 |
2.4747E-5 |
40409 |
0 |
3.18512E-5 |
16-20489925-C-T
|
p.Pro403Ser |
missense |
ACSM2A |
1 |
80818 |
1.23735E-5 |
40409 |
0 |
8.26351E-6 |
16-20489929-C-T
|
p.Pro404Leu |
missense |
ACSM2A |
10 |
80842 |
1.23698E-4 |
40421 |
0 |
9.0843E-5 |
16-20489929-C-A
|
p.Pro404His |
missense |
ACSM2A |
6 |
80844 |
7.4217E-5 |
40422 |
0 |
1.91095E-4 |
16-20489930-C-T
|
p.Pro404Pro |
synonymous |
ACSM2A |
41 |
80840 |
5.07175E-4 |
40420 |
0 |
0.0025683 |
16-20489935-C-T
|
p.Thr406Ile |
missense |
ACSM2A |
4 |
80868 |
4.94633E-5 |
40434 |
0 |
8.25777E-6 |
16-20489936-A-T
|
p.Thr406Thr |
synonymous |
ACSM2A |
1 |
80874 |
1.23649E-5 |
40437 |
0 |
1.65153E-5 |
16-20489964-C-A
|
p.Pro416Thr |
missense |
ACSM2A |
1 |
80892 |
1.23622E-5 |
40446 |
0 |
NA |
16-20489966-C-T
|
p.Pro416Pro |
synonymous |
ACSM2A |
5 |
80890 |
6.18123E-5 |
40445 |
1 |
1.65256E-5 |
16-20489973-C-A
|
p.Pro419Thr |
missense |
ACSM2A |
2 |
80878 |
2.47286E-5 |
40439 |
0 |
6.37024E-5 |
16-20489974-C-T
|
p.Pro419Leu |
missense |
ACSM2A |
3 |
80874 |
3.70947E-5 |
40437 |
1 |
3.9827E-6 |
16-20489979-G-C
|
p.Gly421Arg |
missense |
ACSM2A |
2 |
80838 |
2.47408E-5 |
40419 |
0 |
7.96737E-6 |
16-20489984-C-T
|
p.Ile422Ile |
synonymous |
ACSM2A |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
NA |
16-20491903-C-T
|
p.Pro430Pro |
synonymous |
ACSM2A |
1 |
79314 |
1.26081E-5 |
39657 |
0 |
6.25E-4 |
16-20491904-G-A
|
p.Asp431Asn |
missense |
ACSM2A |
1 |
79306 |
1.26094E-5 |
39653 |
0 |
4.12419E-5 |
16-20491921-C-T
|
p.Asn436Asn |
synonymous |
ACSM2A |
1 |
79202 |
1.26259E-5 |
39601 |
0 |
1.07527E-4 |
16-20491926-G-A
|
p.Arg438Gln |
missense |
ACSM2A |
67 |
77992 |
8.59062E-4 |
38996 |
1 |
0.0161373 |
16-20491943-C-T
|
p.Leu444Phe |
missense |
ACSM2A |
1 |
78764 |
1.26962E-5 |
39382 |
0 |
8.26583E-6 |
16-20491953-G-A
|
p.Arg447Gln |
missense |
ACSM2A |
1 |
78194 |
1.27887E-5 |
39097 |
0 |
0.00181598 |
16-20491990-G-A
|
p.Met459Ile |
missense |
ACSM2A |
1 |
66452 |
1.50485E-5 |
33226 |
0 |
2.88284E-4 |
16-20492000-A-G
|
p.Asn463Asp |
missense |
ACSM2A |
1876 |
12586 |
0.149055 |
6293 |
483 |
0.888274 |
16-20492009-A-G
|
p.Ile466Val |
missense |
ACSM2A |
1 |
70104 |
1.42645E-5 |
35052 |
0 |
0.00435323 |
16-20492143-G-A
|
c.1410-1G>A |
splice_acceptor |
ACSM2A |
1 |
79522 |
1.25751E-5 |
39761 |
0 |
NA |
16-20492144-G-T
|
p.Gly470Gly |
splice_region+synonymous |
ACSM2A |
3 |
79520 |
3.77264E-5 |
39760 |
0 |
4.94527E-5 |
16-20492148-C-T
|
p.Arg472Trp |
missense |
ACSM2A |
1 |
79500 |
1.25786E-5 |
39750 |
0 |
9.88989E-5 |
16-20492148-C-G
|
p.Arg472Gly |
missense |
ACSM2A |
2 |
79506 |
2.51553E-5 |
39753 |
0 |
NA |
16-20492149-G-C
|
p.Arg472Pro |
missense |
ACSM2A |
1 |
79506 |
1.25777E-5 |
39753 |
0 |
7.96483E-6 |
16-20492157-C-T
|
p.Pro475Ser |
missense |
ACSM2A |
1 |
79504 |
1.2578E-5 |
39752 |
0 |
7.96381E-6 |
16-20492157-C-A
|
p.Pro475Thr |
missense |
ACSM2A |
1 |
79504 |
1.2578E-5 |
39752 |
0 |
NA |
16-20492158-C-A
|
p.Pro475His |
missense |
ACSM2A |
1 |
79504 |
1.2578E-5 |
39752 |
0 |
2.78738E-5 |
16-20492161-C-T
|
p.Ser476Leu |
missense |
ACSM2A |
1 |
79512 |
1.25767E-5 |
39756 |
0 |
5.7673E-5 |
16-20492162-G-A
|
p.Ser476Ser |
synonymous |
ACSM2A |
3 |
79514 |
3.77292E-5 |
39757 |
0 |
4.11916E-5 |
16-20492184-G-A
|
p.Glu484Lys |
missense |
ACSM2A |
1 |
79460 |
1.25849E-5 |
39730 |
0 |
6.43211E-4 |
16-20492193-G-T
|
p.Ala487Ser |
missense |
ACSM2A |
4 |
79504 |
5.03119E-5 |
39752 |
0 |
1.64769E-5 |
16-20492193-G-A
|
p.Ala487Thr |
missense |
ACSM2A |
1 |
79514 |
1.25764E-5 |
39757 |
0 |
NA |
16-20492206-C-T
|
p.Thr491Met |
missense |
ACSM2A |
8 |
79472 |
1.00664E-4 |
39736 |
0 |
6.25E-4 |
16-20492207-G-A
|
p.Thr491Thr |
synonymous |
ACSM2A |
42 |
79460 |
5.28568E-4 |
39730 |
0 |
0.00369974 |
16-20492214-A-C
|
p.Ile494Leu |
missense |
ACSM2A |
1 |
79468 |
1.25837E-5 |
39734 |
0 |
NA |
16-20492214-A-T
|
p.Ile494Phe |
missense |
ACSM2A |
1 |
79466 |
1.2584E-5 |
39733 |
0 |
0.00116009 |
16-20492228-C-T
|
p.Asp498Asp |
synonymous |
ACSM2A |
11 |
79454 |
1.38445E-4 |
39727 |
0 |
3.82555E-4 |
16-20492232-G-A
|
p.Val500Ile |
missense |
ACSM2A |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
6.37836E-5 |
16-20492235-C-T
|
p.Arg501* |
stop_gained |
ACSM2A |
6 |
79448 |
7.55211E-5 |
39724 |
0 |
8.26214E-5 |
16-20492235-C-G
|
p.Arg501Gly |
missense |
ACSM2A |
1 |
79456 |
1.25856E-5 |
39728 |
0 |
1.27624E-4 |
16-20492250-G-A
|
c.1509+7G>A |
splice_region |
ACSM2A |
29 |
79360 |
3.65423E-4 |
39680 |
0 |
0.00125 |
16-20492330-C-T
|
n.1525C>T |
splice_region |
ACSM2A |
1 |
74382 |
1.34441E-5 |
37191 |
0 |
NA |
16-20492330-C-A
|
n.1525C>A |
splice_region |
ACSM2A |
1 |
74382 |
1.34441E-5 |
37191 |
0 |
NA |
16-20492469-G-C
|
n.1910G>C |
splice_region |
ACSM2A |
1 |
38470 |
2.59943E-5 |
19235 |
0 |
NA |
16-20494380-G-A
|
p.Val504Met |
missense+splice_region |
ACSM2A |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
16-20494383-G-A
|
p.Val505Met |
missense |
ACSM2A |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
16-20494389-G-A
|
p.Ala507Thr |
missense |
ACSM2A |
2 |
81094 |
2.46627E-5 |
40547 |
0 |
8.23764E-6 |
16-20494392-T-C
|
p.Phe508Leu |
missense |
ACSM2A |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
3.97668E-6 |
16-20494395-G-C
|
p.Val509Leu |
missense |
ACSM2A |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
2.47113E-5 |
16-20494399-T-C
|
p.Val510Ala |
missense |
ACSM2A |
7 |
81100 |
8.63132E-5 |
40550 |
0 |
1.23554E-4 |
16-20494408-C-T
|
p.Ser513Leu |
missense |
ACSM2A |
8831 |
80944 |
0.1091 |
40472 |
530 |
0.214375 |
16-20494409-G-A
|
p.Ser513Ser |
synonymous |
ACSM2A |
7 |
81092 |
8.63217E-5 |
40546 |
0 |
9.56511E-5 |
16-20494409-G-T
|
p.Ser513Ser |
synonymous |
ACSM2A |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
16-20494418-G-A
|
p.Leu516Leu |
synonymous |
ACSM2A |
21 |
81080 |
2.59003E-4 |
40540 |
1 |
5.03525E-4 |
16-20494446-G-A
|
p.Glu526Lys |
missense |
ACSM2A |
17 |
81082 |
2.09664E-4 |
40541 |
0 |
2.88279E-4 |
16-20494448-G-A
|
p.Glu526Glu |
synonymous |
ACSM2A |
8 |
81086 |
9.86607E-5 |
40543 |
0 |
3.97636E-5 |
16-20494452-C-T
|
p.Gln528* |
stop_gained |
ACSM2A |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
3.97636E-6 |
16-20494466-G-A
|
p.Lys532Lys |
synonymous |
ACSM2A |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
NA |
16-20494477-C-A
|
p.Ala536Asp |
missense |
ACSM2A |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
7.9538E-6 |
16-20494479-C-G
|
p.Pro537Ala |
missense |
ACSM2A |
4 |
81070 |
4.93401E-5 |
40535 |
0 |
5.03525E-4 |
16-20494482-T-C
|
p.Tyr538His |
missense |
ACSM2A |
2 |
81062 |
2.46725E-5 |
40531 |
0 |
8.23845E-6 |
16-20494484-C-T
|
p.Tyr538Tyr |
synonymous |
ACSM2A |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
8.23873E-6 |
16-20494491-C-T
|
p.Pro541Ser |
missense |
ACSM2A |
2 |
81054 |
2.46749E-5 |
40527 |
0 |
4.77445E-5 |
16-20494497-A-G
|
p.Lys543Glu |
missense+splice_region |
ACSM2A |
1 |
81050 |
1.23381E-5 |
40525 |
0 |
3.9794E-6 |
16-20494501-T-G
|
c.1629+2T>G |
splice_donor |
ACSM2A |
4 |
81034 |
4.9362E-5 |
40517 |
0 |
1.64864E-5 |
16-20497897-T-G
|
p.Ile544Arg |
missense+splice_region |
ACSM2A |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
NA |
16-20497913-C-A
|
p.Asn549Lys |
missense |
ACSM2A |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
16-20497916-G-A
|
p.Leu550Leu |
synonymous |
ACSM2A |
73 |
81076 |
9.0039E-4 |
40538 |
0 |
0.00114635 |
16-20497925-T-C
|
p.Thr553Thr |
synonymous |
ACSM2A |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
8.23669E-6 |
16-20497944-C-T
|
p.Arg560* |
stop_gained |
ACSM2A |
29 |
81092 |
3.57618E-4 |
40546 |
0 |
0.00146487 |
16-20497945-G-A
|
p.Arg560Gln |
missense |
ACSM2A |
3 |
81100 |
3.69914E-5 |
40550 |
0 |
6.36983E-5 |
16-20497947-G-A
|
p.Ala561Thr |
missense |
ACSM2A |
2 |
81102 |
2.46603E-5 |
40551 |
0 |
6.25E-4 |
16-20497948-C-A
|
p.Ala561Asp |
missense |
ACSM2A |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
7.95286E-6 |
16-20497956-C-T
|
p.Arg564* |
stop_gained |
ACSM2A |
9 |
81100 |
1.10974E-4 |
40550 |
0 |
0.00251762 |
16-20497962-A-G
|
p.Lys566Glu |
missense |
ACSM2A |
2 |
81098 |
2.46615E-5 |
40549 |
0 |
NA |
16-20497964-G-A
|
p.Lys566Lys |
synonymous |
ACSM2A |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
3.18451E-5 |
16-20497976-G-T
|
p.Met570Ile |
missense |
ACSM2A |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
3.97652E-6 |
16-20497979-C-T
|
p.Ser571Ser |
synonymous |
ACSM2A |
14 |
81098 |
1.72631E-4 |
40549 |
0 |
3.50408E-4 |
16-20497979-C-A
|
p.Ser571Ser |
synonymous |
ACSM2A |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
NA |
16-20497980-G-A
|
p.Gly572Arg |
missense |
ACSM2A |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
7.41375E-5 |
16-20497981-GA-G
|
p.Ala574fs |
frameshift |
ACSM2A |
20 |
81096 |
2.46621E-4 |
40548 |
0 |
5.03525E-4 |
16-20497986-G-T
|
p.Ala574Ser |
missense |
ACSM2A |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
7.95317E-6 |
16-20497989-C-T
|
p.Arg575Cys |
missense |
ACSM2A |
2 |
81088 |
2.46646E-5 |
40544 |
0 |
NA |
16-20497990-G-A
|
p.Arg575His |
missense |
ACSM2A |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
1.59072E-5 |
16-20497993-C-T
|
p.Ala576Val |
missense |
ACSM2A |
3 |
81088 |
3.69968E-5 |
40544 |
0 |
5.03525E-4 |
16-20497993-C-A
|
p.Ala576Glu |
missense |
ACSM2A |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
3.18552E-5 |
16-20497994-G-A
|
p.Ala576Ala |
synonymous |
ACSM2A |
5 |
81088 |
6.16614E-5 |
40544 |
0 |
1.59256E-4 |
16-20497995-C-T
|
p.Gln577* |
stop_gained |
ACSM2A |
4 |
81086 |
4.93303E-5 |
40543 |
0 |
6.37064E-5 |
16-20498103-CATGAAT-C
|
c.*106_*111delGAATAT |
splice_region |
ACSM2A |
2 |
79404 |
2.51876E-5 |
39702 |
0 |
NA |
16-20498112-A-C
|
c.*112A>C |
splice_region |
ACSM2A |
1 |
78506 |
1.27379E-5 |
39253 |
0 |
NA |