Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
A |
G |
1: 125,335,132 (GRCm39) |
V95A |
probably damaging |
Het |
Ankrd40 |
A |
T |
11: 94,224,751 (GRCm39) |
K53N |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,960,450 (GRCm39) |
Q2338* |
probably null |
Het |
Astn2 |
A |
G |
4: 65,712,810 (GRCm39) |
F610S |
probably damaging |
Het |
Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
C |
T |
5: 107,654,895 (GRCm39) |
A386V |
probably damaging |
Het |
Calm4 |
A |
T |
13: 3,887,874 (GRCm39) |
|
probably benign |
Het |
Card10 |
T |
C |
15: 78,686,614 (GRCm39) |
T68A |
probably benign |
Het |
Cars2 |
A |
G |
8: 11,580,301 (GRCm39) |
M245T |
probably damaging |
Het |
Cat |
C |
A |
2: 103,303,296 (GRCm39) |
L160F |
probably null |
Het |
Cers5 |
G |
T |
15: 99,638,883 (GRCm39) |
T144K |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,908,215 (GRCm39) |
L211F |
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,321 (GRCm39) |
R63* |
probably null |
Het |
Dnah14 |
G |
T |
1: 181,577,719 (GRCm39) |
W3012L |
probably damaging |
Het |
Dusp18 |
A |
G |
11: 3,847,555 (GRCm39) |
T182A |
probably benign |
Het |
Dzip1l |
C |
A |
9: 99,524,737 (GRCm39) |
T286K |
possibly damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,873,918 (GRCm39) |
T944S |
possibly damaging |
Het |
Fbn1 |
A |
T |
2: 125,163,145 (GRCm39) |
I2119N |
possibly damaging |
Het |
Gabbr2 |
A |
G |
4: 46,846,448 (GRCm39) |
S154P |
probably damaging |
Het |
Gm15440 |
A |
T |
13: 51,845,437 (GRCm39) |
H107Q |
unknown |
Het |
Grm2 |
G |
A |
9: 106,531,090 (GRCm39) |
P133L |
probably damaging |
Het |
Gsdme |
A |
G |
6: 50,228,285 (GRCm39) |
V61A |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,591,198 (GRCm39) |
T23A |
probably benign |
Het |
Helz |
A |
T |
11: 107,485,963 (GRCm39) |
|
probably null |
Het |
Herc1 |
A |
C |
9: 66,352,814 (GRCm39) |
H2100P |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ifngr1 |
T |
C |
10: 19,482,048 (GRCm39) |
S213P |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,721 (GRCm39) |
D636G |
probably benign |
Het |
Mre11a |
G |
A |
9: 14,730,760 (GRCm39) |
D491N |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,554,548 (GRCm39) |
L3915P |
unknown |
Het |
Myh7b |
C |
T |
2: 155,464,409 (GRCm39) |
T608M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,955,508 (GRCm39) |
K23E |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,331 (GRCm39) |
V620A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,809,542 (GRCm39) |
Y1121H |
probably damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,551 (GRCm39) |
F207L |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,679 (GRCm39) |
V585A |
possibly damaging |
Het |
Pigg |
A |
T |
5: 108,489,788 (GRCm39) |
M798L |
probably benign |
Het |
Poc5 |
G |
T |
13: 96,533,179 (GRCm39) |
M102I |
probably damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,088,835 (GRCm39) |
Q496L |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,068,281 (GRCm39) |
Y1752H |
probably damaging |
Het |
Ptpru |
G |
C |
4: 131,499,941 (GRCm39) |
S1244R |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,307,385 (GRCm39) |
K682E |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,816,041 (GRCm39) |
D170G |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,406 (GRCm39) |
D478G |
possibly damaging |
Het |
Scai |
A |
T |
2: 38,973,566 (GRCm39) |
Y58* |
probably null |
Het |
Simc1 |
G |
A |
13: 54,676,303 (GRCm39) |
V1007M |
probably benign |
Het |
Tcf20 |
G |
T |
15: 82,737,409 (GRCm39) |
D1347E |
probably benign |
Het |
Tdo2 |
T |
C |
3: 81,870,035 (GRCm39) |
Y279C |
probably damaging |
Het |
Trdn |
C |
T |
10: 33,340,571 (GRCm39) |
P602S |
probably benign |
Het |
Txndc5 |
A |
T |
13: 38,707,392 (GRCm39) |
M1K |
probably null |
Het |
Ubr2 |
A |
C |
17: 47,293,218 (GRCm39) |
M356R |
possibly damaging |
Het |
Uqcrc2 |
A |
T |
7: 120,253,232 (GRCm39) |
D332V |
probably damaging |
Het |
Usp48 |
T |
C |
4: 137,333,129 (GRCm39) |
F108L |
probably damaging |
Het |
Vill |
A |
G |
9: 118,886,867 (GRCm39) |
N4S |
probably benign |
Het |
Vmn1r11 |
T |
C |
6: 57,114,645 (GRCm39) |
V103A |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,336 (GRCm39) |
D278G |
probably benign |
Het |
Vps35l |
T |
G |
7: 118,345,658 (GRCm39) |
S59A |
possibly damaging |
Het |
Wfdc15a |
A |
T |
2: 164,041,586 (GRCm39) |
L79* |
probably null |
Het |
Xxylt1 |
C |
T |
16: 30,899,799 (GRCm39) |
V119M |
probably damaging |
Het |
Zfp26 |
G |
T |
9: 20,348,989 (GRCm39) |
A525D |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,389,642 (GRCm39) |
G396D |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,948,889 (GRCm39) |
D148G |
possibly damaging |
Het |
Zscan26 |
G |
T |
13: 21,632,499 (GRCm39) |
S77R |
probably damaging |
Het |
|
Other mutations in Myh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Myh1
|
APN |
11 |
67,111,691 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00514:Myh1
|
APN |
11 |
67,110,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00851:Myh1
|
APN |
11 |
67,108,736 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01061:Myh1
|
APN |
11 |
67,108,688 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01113:Myh1
|
APN |
11 |
67,093,006 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01125:Myh1
|
APN |
11 |
67,111,486 (GRCm39) |
missense |
probably benign |
|
IGL01391:Myh1
|
APN |
11 |
67,108,689 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01392:Myh1
|
APN |
11 |
67,112,127 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01404:Myh1
|
APN |
11 |
67,112,977 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01700:Myh1
|
APN |
11 |
67,102,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01739:Myh1
|
APN |
11 |
67,105,354 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01759:Myh1
|
APN |
11 |
67,110,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01922:Myh1
|
APN |
11 |
67,101,292 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01952:Myh1
|
APN |
11 |
67,111,218 (GRCm39) |
splice site |
probably null |
|
IGL02007:Myh1
|
APN |
11 |
67,111,382 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02028:Myh1
|
APN |
11 |
67,101,441 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02245:Myh1
|
APN |
11 |
67,102,313 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02628:Myh1
|
APN |
11 |
67,097,088 (GRCm39) |
unclassified |
probably benign |
|
IGL02942:Myh1
|
APN |
11 |
67,093,308 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Myh1
|
APN |
11 |
67,099,896 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03031:Myh1
|
APN |
11 |
67,097,213 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03187:Myh1
|
APN |
11 |
67,097,351 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL03302:Myh1
|
APN |
11 |
67,102,328 (GRCm39) |
missense |
probably benign |
0.01 |
compelling
|
UTSW |
11 |
67,110,631 (GRCm39) |
critical splice donor site |
probably null |
|
convincing
|
UTSW |
11 |
67,093,365 (GRCm39) |
missense |
probably damaging |
1.00 |
muscle
|
UTSW |
11 |
67,096,874 (GRCm39) |
nonsense |
probably null |
|
Persuasive
|
UTSW |
11 |
67,099,890 (GRCm39) |
missense |
possibly damaging |
0.90 |
G1patch:Myh1
|
UTSW |
11 |
67,092,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Myh1
|
UTSW |
11 |
67,099,904 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0079:Myh1
|
UTSW |
11 |
67,104,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Myh1
|
UTSW |
11 |
67,106,683 (GRCm39) |
missense |
probably benign |
|
R0317:Myh1
|
UTSW |
11 |
67,108,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Myh1
|
UTSW |
11 |
67,101,243 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0528:Myh1
|
UTSW |
11 |
67,111,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Myh1
|
UTSW |
11 |
67,093,359 (GRCm39) |
missense |
probably damaging |
0.98 |
R0964:Myh1
|
UTSW |
11 |
67,096,751 (GRCm39) |
missense |
probably benign |
|
R0964:Myh1
|
UTSW |
11 |
67,112,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1427:Myh1
|
UTSW |
11 |
67,110,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R1429:Myh1
|
UTSW |
11 |
67,108,736 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1481:Myh1
|
UTSW |
11 |
67,096,325 (GRCm39) |
unclassified |
probably benign |
|
R1562:Myh1
|
UTSW |
11 |
67,102,196 (GRCm39) |
missense |
probably benign |
0.04 |
R1727:Myh1
|
UTSW |
11 |
67,101,292 (GRCm39) |
critical splice donor site |
probably benign |
|
R1796:Myh1
|
UTSW |
11 |
67,115,183 (GRCm39) |
missense |
probably benign |
0.00 |
R1808:Myh1
|
UTSW |
11 |
67,102,300 (GRCm39) |
nonsense |
probably null |
|
R1836:Myh1
|
UTSW |
11 |
67,095,648 (GRCm39) |
missense |
probably damaging |
0.98 |
R1848:Myh1
|
UTSW |
11 |
67,104,456 (GRCm39) |
missense |
probably benign |
0.10 |
R1851:Myh1
|
UTSW |
11 |
67,095,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Myh1
|
UTSW |
11 |
67,101,996 (GRCm39) |
missense |
probably benign |
0.01 |
R1967:Myh1
|
UTSW |
11 |
67,104,273 (GRCm39) |
missense |
probably benign |
0.08 |
R1999:Myh1
|
UTSW |
11 |
67,113,234 (GRCm39) |
missense |
probably benign |
0.04 |
R2067:Myh1
|
UTSW |
11 |
67,105,446 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2111:Myh1
|
UTSW |
11 |
67,105,446 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2150:Myh1
|
UTSW |
11 |
67,113,234 (GRCm39) |
missense |
probably benign |
0.04 |
R2189:Myh1
|
UTSW |
11 |
67,112,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Myh1
|
UTSW |
11 |
67,111,363 (GRCm39) |
missense |
probably benign |
0.00 |
R2436:Myh1
|
UTSW |
11 |
67,104,097 (GRCm39) |
missense |
probably benign |
0.04 |
R2483:Myh1
|
UTSW |
11 |
67,102,052 (GRCm39) |
missense |
probably benign |
|
R2508:Myh1
|
UTSW |
11 |
67,104,424 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2509:Myh1
|
UTSW |
11 |
67,096,423 (GRCm39) |
missense |
probably benign |
0.01 |
R2511:Myh1
|
UTSW |
11 |
67,096,423 (GRCm39) |
missense |
probably benign |
0.01 |
R2908:Myh1
|
UTSW |
11 |
67,111,522 (GRCm39) |
nonsense |
probably null |
|
R2966:Myh1
|
UTSW |
11 |
67,105,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R3829:Myh1
|
UTSW |
11 |
67,096,423 (GRCm39) |
missense |
probably benign |
0.01 |
R4106:Myh1
|
UTSW |
11 |
67,102,403 (GRCm39) |
missense |
probably benign |
0.33 |
R4108:Myh1
|
UTSW |
11 |
67,102,403 (GRCm39) |
missense |
probably benign |
0.33 |
R4457:Myh1
|
UTSW |
11 |
67,111,441 (GRCm39) |
missense |
probably benign |
0.42 |
R4629:Myh1
|
UTSW |
11 |
67,100,119 (GRCm39) |
missense |
probably benign |
0.01 |
R4981:Myh1
|
UTSW |
11 |
67,115,300 (GRCm39) |
utr 3 prime |
probably benign |
|
R5032:Myh1
|
UTSW |
11 |
67,096,874 (GRCm39) |
nonsense |
probably null |
|
R5239:Myh1
|
UTSW |
11 |
67,106,051 (GRCm39) |
missense |
probably benign |
0.19 |
R5241:Myh1
|
UTSW |
11 |
67,095,275 (GRCm39) |
missense |
probably benign |
|
R5303:Myh1
|
UTSW |
11 |
67,092,843 (GRCm39) |
missense |
probably benign |
0.09 |
R5666:Myh1
|
UTSW |
11 |
67,112,178 (GRCm39) |
missense |
probably benign |
0.30 |
R5717:Myh1
|
UTSW |
11 |
67,099,782 (GRCm39) |
missense |
probably benign |
|
R5761:Myh1
|
UTSW |
11 |
67,110,078 (GRCm39) |
missense |
probably damaging |
0.98 |
R5870:Myh1
|
UTSW |
11 |
67,092,805 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6077:Myh1
|
UTSW |
11 |
67,102,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Myh1
|
UTSW |
11 |
67,111,613 (GRCm39) |
splice site |
probably null |
|
R6197:Myh1
|
UTSW |
11 |
67,111,793 (GRCm39) |
missense |
probably benign |
0.01 |
R6460:Myh1
|
UTSW |
11 |
67,112,202 (GRCm39) |
missense |
probably benign |
|
R6627:Myh1
|
UTSW |
11 |
67,105,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R6634:Myh1
|
UTSW |
11 |
67,099,890 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6725:Myh1
|
UTSW |
11 |
67,092,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6784:Myh1
|
UTSW |
11 |
67,105,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Myh1
|
UTSW |
11 |
67,111,286 (GRCm39) |
missense |
probably benign |
0.34 |
R6866:Myh1
|
UTSW |
11 |
67,115,219 (GRCm39) |
missense |
probably damaging |
0.99 |
R6997:Myh1
|
UTSW |
11 |
67,111,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7028:Myh1
|
UTSW |
11 |
67,111,247 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7133:Myh1
|
UTSW |
11 |
67,093,412 (GRCm39) |
missense |
probably benign |
|
R7185:Myh1
|
UTSW |
11 |
67,098,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Myh1
|
UTSW |
11 |
67,102,183 (GRCm39) |
missense |
probably benign |
|
R7283:Myh1
|
UTSW |
11 |
67,092,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7336:Myh1
|
UTSW |
11 |
67,111,435 (GRCm39) |
missense |
probably benign |
0.00 |
R7348:Myh1
|
UTSW |
11 |
67,093,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Myh1
|
UTSW |
11 |
67,111,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Myh1
|
UTSW |
11 |
67,101,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Myh1
|
UTSW |
11 |
67,115,201 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7387:Myh1
|
UTSW |
11 |
67,099,715 (GRCm39) |
missense |
probably benign |
0.14 |
R7424:Myh1
|
UTSW |
11 |
67,104,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R7430:Myh1
|
UTSW |
11 |
67,096,393 (GRCm39) |
nonsense |
probably null |
|
R7443:Myh1
|
UTSW |
11 |
67,111,331 (GRCm39) |
missense |
probably benign |
|
R7447:Myh1
|
UTSW |
11 |
67,110,006 (GRCm39) |
missense |
probably benign |
0.01 |
R7509:Myh1
|
UTSW |
11 |
67,101,287 (GRCm39) |
missense |
probably benign |
0.40 |
R7583:Myh1
|
UTSW |
11 |
67,111,739 (GRCm39) |
missense |
probably benign |
0.00 |
R7611:Myh1
|
UTSW |
11 |
67,101,243 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7617:Myh1
|
UTSW |
11 |
67,106,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7727:Myh1
|
UTSW |
11 |
67,106,748 (GRCm39) |
missense |
probably benign |
0.00 |
R8029:Myh1
|
UTSW |
11 |
67,102,066 (GRCm39) |
critical splice donor site |
probably null |
|
R8042:Myh1
|
UTSW |
11 |
67,097,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R8060:Myh1
|
UTSW |
11 |
67,106,077 (GRCm39) |
missense |
probably benign |
|
R8080:Myh1
|
UTSW |
11 |
67,102,228 (GRCm39) |
missense |
probably benign |
0.10 |
R8117:Myh1
|
UTSW |
11 |
67,113,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Myh1
|
UTSW |
11 |
67,093,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Myh1
|
UTSW |
11 |
67,092,832 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8397:Myh1
|
UTSW |
11 |
67,112,465 (GRCm39) |
missense |
probably damaging |
0.97 |
R8545:Myh1
|
UTSW |
11 |
67,093,027 (GRCm39) |
missense |
probably benign |
0.00 |
R8807:Myh1
|
UTSW |
11 |
67,111,354 (GRCm39) |
missense |
probably benign |
0.02 |
R8812:Myh1
|
UTSW |
11 |
67,099,967 (GRCm39) |
missense |
probably benign |
0.00 |
R8855:Myh1
|
UTSW |
11 |
67,102,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R8906:Myh1
|
UTSW |
11 |
67,096,739 (GRCm39) |
missense |
probably benign |
0.02 |
R8959:Myh1
|
UTSW |
11 |
67,102,328 (GRCm39) |
missense |
probably benign |
|
R8992:Myh1
|
UTSW |
11 |
67,096,607 (GRCm39) |
missense |
probably benign |
|
R9140:Myh1
|
UTSW |
11 |
67,100,089 (GRCm39) |
missense |
probably benign |
0.04 |
R9293:Myh1
|
UTSW |
11 |
67,099,929 (GRCm39) |
missense |
probably benign |
0.25 |
R9366:Myh1
|
UTSW |
11 |
67,110,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R9371:Myh1
|
UTSW |
11 |
67,110,631 (GRCm39) |
critical splice donor site |
probably null |
|
R9378:Myh1
|
UTSW |
11 |
67,093,259 (GRCm39) |
missense |
probably damaging |
0.99 |
R9482:Myh1
|
UTSW |
11 |
67,108,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R9507:Myh1
|
UTSW |
11 |
67,102,049 (GRCm39) |
missense |
probably benign |
0.00 |
R9558:Myh1
|
UTSW |
11 |
67,108,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9561:Myh1
|
UTSW |
11 |
67,108,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9587:Myh1
|
UTSW |
11 |
67,102,196 (GRCm39) |
missense |
probably benign |
0.03 |
X0062:Myh1
|
UTSW |
11 |
67,098,367 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Myh1
|
UTSW |
11 |
67,097,144 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1187:Myh1
|
UTSW |
11 |
67,095,272 (GRCm39) |
missense |
probably benign |
|
Z1188:Myh1
|
UTSW |
11 |
67,095,272 (GRCm39) |
missense |
probably benign |
|
Z1190:Myh1
|
UTSW |
11 |
67,095,272 (GRCm39) |
missense |
probably benign |
|
Z1191:Myh1
|
UTSW |
11 |
67,095,272 (GRCm39) |
missense |
probably benign |
|
|