1 |
AKAP9 |
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) |
SNV |
Pathogenic
|
5883 |
rs121908566 |
GRCh37: 7:91670004-91670004 GRCh38: 7:92040690-92040690 |
2 |
AKAP9 |
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) |
SNV |
Likely Pathogenic
|
180261 |
rs730880043 |
GRCh37: 7:91630720-91630720 GRCh38: 7:92001406-92001406 |
3 |
AKAP9 |
NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile) |
SNV |
Uncertain Significance
|
931292 |
rs1809737574 |
GRCh37: 7:91690593-91690593 GRCh38: 7:92061279-92061279 |
4 |
AKAP9 |
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) |
SNV |
Uncertain Significance
|
931764 |
rs763748052 |
GRCh37: 7:91667761-91667761 GRCh38: 7:92038447-92038447 |
5 |
AKAP9 |
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) |
SNV |
Uncertain Significance
|
1031572 |
rs1816657238 |
GRCh37: 7:91726111-91726111 GRCh38: 7:92096797-92096797 |
6 |
AKAP9 |
NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile) |
SNV |
Uncertain Significance
|
1709096 |
|
GRCh37: 7:91659235-91659235 GRCh38: 7:92029921-92029921 |
7 |
AKAP9 |
NM_005751.5(AKAP9):c.6148G>T (p.Asp2050Tyr) |
SNV |
Uncertain Significance
|
1709631 |
|
GRCh37: 7:91694715-91694715 GRCh38: 7:92065401-92065401 |
8 |
AKAP9 |
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) |
SNV |
Uncertain Significance
|
191526 |
rs61757664 |
GRCh37: 7:91726960-91726960 GRCh38: 7:92097646-92097646 |
9 |
AKAP9 |
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) |
SNV |
Uncertain Significance
|
190513 |
rs148920964 |
GRCh37: 7:91623968-91623968 GRCh38: 7:91994654-91994654 |
10 |
AKAP9 |
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) |
SNV |
Uncertain Significance
|
180262 |
rs139965373 |
GRCh37: 7:91643610-91643610 GRCh38: 7:92014296-92014296 |
11 |
AKAP9 |
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) |
SNV |
Uncertain Significance
|
417869 |
rs749340561 |
GRCh37: 7:91659249-91659249 GRCh38: 7:92029935-92029935 |
12 |
AKAP9 |
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) |
SNV |
Uncertain Significance
|
360836 |
rs147841245 |
GRCh37: 7:91707140-91707140 GRCh38: 7:92077826-92077826 |
13 |
AKAP9 |
NM_005751.5(AKAP9):c.5153C>A (p.Ser1718Tyr) |
SNV |
Uncertain Significance
|
811703 |
rs1584285416 |
GRCh37: 7:91672076-91672076 GRCh38: 7:92042762-92042762 |
14 |
AKAP9 |
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) |
SNV |
Uncertain Significance
|
519331 |
rs146022334 |
GRCh37: 7:91630435-91630435 GRCh38: 7:92001121-92001121 |
15 |
AKAP9 |
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) |
SNV |
Uncertain Significance
|
191519 |
rs73226383 |
GRCh37: 7:91694743-91694743 GRCh38: 7:92065429-92065429 |
16 |
AKAP9 |
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) |
SNV |
Uncertain Significance
|
191523 |
rs201048693 |
GRCh37: 7:91726036-91726036 GRCh38: 7:92096722-92096722 |
17 |
AKAP9 |
NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln) |
SNV |
Uncertain Significance
|
637986 |
rs373725997 |
GRCh37: 7:91699452-91699452 GRCh38: 7:92070138-92070138 |
18 |
AKAP9 |
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) |
SNV |
Uncertain Significance
|
838911 |
rs767728528 |
GRCh37: 7:91652311-91652311 GRCh38: 7:92022997-92022997 |
19 |
AKAP9 |
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) |
SNV |
Uncertain Significance
|
488172 |
rs776287498 |
GRCh37: 7:91631515-91631515 GRCh38: 7:92002201-92002201 |
20 |
AKAP9 |
NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp) |
SNV |
Uncertain Significance
|
1699378 |
|
GRCh37: 7:91730252-91730252 GRCh38: 7:92100938-92100938 |
21 |
AKAP9 |
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) |
SNV |
Uncertain Significance
|
457096 |
rs1265369157 |
GRCh37: 7:91632349-91632349 GRCh38: 7:92003035-92003035 |
22 |
AKAP9, LOC121175350 |
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) |
SNV |
Uncertain Significance
|
240254 |
rs146305558 |
GRCh37: 7:91671490-91671490 GRCh38: 7:92042176-92042176 |
23 |
AKAP9, LOC121175350 |
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) |
SNV |
Uncertain Significance
|
639119 |
rs200044616 |
GRCh37: 7:91671477-91671477 GRCh38: 7:92042163-92042163 |
24 |
AKAP9 |
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) |
SNV |
Uncertain Significance
|
417034 |
rs140782750 |
GRCh37: 7:91708613-91708613 GRCh38: 7:92079299-92079299 |
25 |
AKAP9 |
NM_005751.5(AKAP9):c.3113T>C (p.Val1038Ala) |
SNV |
Uncertain Significance
|
811185 |
rs1584047508 |
GRCh37: 7:91632344-91632344 GRCh38: 7:92003030-92003030 |
26 |
AKAP9 |
NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) |
SNV |
Uncertain Significance
|
191525 |
rs146495719 |
GRCh37: 7:91726522-91726522 GRCh38: 7:92097208-92097208 |
27 |
AKAP9 |
NM_005751.5(AKAP9):c.6330+3A>G |
SNV |
Likely Benign
|
810857 |
rs771419309 |
GRCh37: 7:91695863-91695863 GRCh38: 7:92066549-92066549 |
28 |
AKAP9 |
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) |
SNV |
Likely Benign
|
810858 |
rs376528503 |
GRCh37: 7:91712791-91712791 GRCh38: 7:92083477-92083477 |
29 |
AKAP9 |
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) |
SNV |
Likely Benign
|
190514 |
rs139046510 |
GRCh37: 7:91727479-91727479 GRCh38: 7:92098165-92098165 |
30 |
AKAP9 |
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) |
SNV |
Likely Benign
|
190510 |
rs140470576 |
GRCh37: 7:91726391-91726391 GRCh38: 7:92097077-92097077 |
31 |
AKAP9 |
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) |
SNV |
Likely Benign
|
191522 |
rs144875383 |
GRCh37: 7:91712609-91712609 GRCh38: 7:92083295-92083295 |
32 |
AKAP9 |
NM_005751.5(AKAP9):c.5978-4A>G |
SNV |
Likely Benign
|
220501 |
rs147494754 |
GRCh37: 7:91694541-91694541 GRCh38: 7:92065227-92065227 |
33 |
AKAP9 |
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) |
SNV |
Likely Benign
|
522189 |
rs141094356 |
GRCh37: 7:91682236-91682236 GRCh38: 7:92052922-92052922 |
34 |
AKAP9 |
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) |
SNV |
Likely Benign
|
190518 |
rs144888041 |
GRCh37: 7:91622303-91622303 GRCh38: 7:91992989-91992989 |
35 |
AKAP9 |
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) |
SNV |
Likely Benign
|
190512 |
rs61757663 |
GRCh37: 7:91726527-91726527 GRCh38: 7:92097213-92097213 |
36 |
AKAP9 |
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) |
SNV |
Likely Benign
|
180263 |
rs151021935 |
GRCh37: 7:91682040-91682040 GRCh38: 7:92052726-92052726 |
37 |
AKAP9 |
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) |
SNV |
Likely Benign
|
191518 |
rs61757671 |
GRCh37: 7:91694604-91694604 GRCh38: 7:92065290-92065290 |
38 |
AKAP9 |
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) |
SNV |
Likely Benign
|
197505 |
rs56198613 |
GRCh37: 7:91729054-91729054 GRCh38: 7:92099740-92099740 |
39 |
AKAP9 |
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) |
SNV |
Benign/Likely Benign
|
136346 |
rs142401936 |
GRCh37: 7:91603056-91603056 GRCh38: 7:91973742-91973742 |
40 |
AKAP9 |
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) |
SNV |
Benign/Likely Benign
|
136332 |
rs150016098 |
GRCh37: 7:91674405-91674405 GRCh38: 7:92045091-92045091 |
41 |
AKAP9 |
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) |
SNV |
Benign/Likely Benign
|
215511 |
rs143627839 |
GRCh37: 7:91726470-91726470 GRCh38: 7:92097156-92097156 |
42 |
AKAP9 |
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) |
SNV |
Benign/Likely Benign
|
191520 |
rs76177450 |
GRCh37: 7:91700267-91700267 GRCh38: 7:92070953-92070953 |
43 |
AKAP9 |
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) |
SNV |
Benign
|
136345 |
rs34327395 |
GRCh37: 7:91729127-91729127 GRCh38: 7:92099813-92099813 |
44 |
AKAP9 |
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) |
SNV |
Benign
|
191549 |
rs35669569 |
GRCh37: 7:91603115-91603115 GRCh38: 7:91973801-91973801 |
45 |
AKAP9 |
NM_005751.5(AKAP9):c.3952+14A>G |
SNV |
Benign
|
1343612 |
|
GRCh37: 7:91651680-91651680 GRCh38: 7:92022366-92022366 |
46 |
AKAP9 |
NM_005751.5(AKAP9):c.9358+11T>C |
SNV |
Benign
|
1284664 |
|
GRCh37: 7:91718854-91718854 GRCh38: 7:92089540-92089540 |
47 |
AKAP9 |
NM_005751.5(AKAP9):c.9729+17C>T |
SNV |
Benign
|
1239019 |
|
GRCh37: 7:91724504-91724504 GRCh38: 7:92095190-92095190 |
48 |
AKAP9 |
NM_005751.5(AKAP9):c.4148+18G>C |
SNV |
Benign
|
1234949 |
|
GRCh37: 7:91652341-91652341 GRCh38: 7:92023027-92023027 |
49 |
AKAP9 |
NM_005751.5(AKAP9):c.6508-20A>T |
SNV |
Benign
|
1225061 |
|
GRCh37: 7:91700199-91700199 GRCh38: 7:92070885-92070885 |
50 |
AKAP9 |
NM_005751.5(AKAP9):c.11098-13T>G |
SNV |
Benign
|
1217251 |
|
GRCh37: 7:91731895-91731895 GRCh38: 7:92102581-92102581 |