Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
G |
A |
5: 31,051,345 (GRCm39) |
R518H |
probably damaging |
Het |
Agfg1 |
T |
C |
1: 82,871,288 (GRCm39) |
S486P |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,745,978 (GRCm39) |
D283G |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,480,066 (GRCm39) |
N162S |
possibly damaging |
Het |
Capn1 |
A |
G |
19: 6,059,140 (GRCm39) |
Y274H |
probably damaging |
Het |
Cdk5 |
A |
T |
5: 24,627,833 (GRCm39) |
V30E |
probably damaging |
Het |
Cep290 |
T |
G |
10: 100,374,882 (GRCm39) |
L1376W |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,873,944 (GRCm39) |
T1055S |
probably damaging |
Het |
Cyp2c70 |
A |
G |
19: 40,149,076 (GRCm39) |
Y357H |
probably damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Emp1 |
A |
G |
6: 135,358,073 (GRCm39) |
T140A |
probably benign |
Het |
Ergic3 |
T |
C |
2: 155,850,545 (GRCm39) |
V74A |
probably benign |
Het |
Fancm |
A |
T |
12: 65,152,632 (GRCm39) |
L1029F |
probably damaging |
Het |
Fank1 |
C |
A |
7: 133,478,570 (GRCm39) |
C210* |
probably null |
Het |
Fbxo31 |
T |
C |
8: 122,279,101 (GRCm39) |
D462G |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,909,849 (GRCm39) |
A736V |
probably benign |
Het |
Fshr |
T |
C |
17: 89,404,796 (GRCm39) |
T56A |
possibly damaging |
Het |
Gm5901 |
A |
T |
7: 105,026,589 (GRCm39) |
|
probably null |
Het |
Golga2 |
A |
G |
2: 32,193,758 (GRCm39) |
E458G |
probably benign |
Het |
Grik2 |
T |
A |
10: 49,372,205 (GRCm39) |
I335F |
probably benign |
Het |
Grin1 |
T |
A |
2: 25,200,433 (GRCm39) |
M230L |
probably benign |
Het |
Gtf2f1 |
C |
T |
17: 57,311,519 (GRCm39) |
G297D |
probably damaging |
Het |
H2-T5 |
T |
C |
17: 36,472,577 (GRCm39) |
|
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,045,724 (GRCm39) |
T136A |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,087,109 (GRCm39) |
S24C |
probably damaging |
Het |
Jtb |
T |
C |
3: 90,139,394 (GRCm39) |
|
probably benign |
Het |
Kif1a |
C |
T |
1: 92,974,418 (GRCm39) |
G979E |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,261,868 (GRCm39) |
M345V |
probably damaging |
Het |
Mfsd14b |
A |
G |
13: 65,234,907 (GRCm39) |
V90A |
possibly damaging |
Het |
Micu1 |
T |
C |
10: 59,624,806 (GRCm39) |
Y283H |
possibly damaging |
Het |
Mmp2 |
C |
T |
8: 93,558,413 (GRCm39) |
R161* |
probably null |
Het |
Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
Msh5 |
T |
C |
17: 35,248,215 (GRCm39) |
I783V |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 69,926,747 (GRCm39) |
F65I |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,587,605 (GRCm39) |
V37L |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 70,990,352 (GRCm39) |
T967S |
probably damaging |
Het |
Nolc1 |
A |
T |
19: 46,070,103 (GRCm39) |
K291* |
probably null |
Het |
Or1j18 |
A |
T |
2: 36,624,680 (GRCm39) |
T116S |
probably benign |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,872 (GRCm39) |
M133I |
probably damaging |
Het |
Or8u8 |
C |
A |
2: 86,011,960 (GRCm39) |
R165L |
probably benign |
Het |
Paip1 |
A |
G |
13: 119,574,515 (GRCm39) |
E70G |
possibly damaging |
Het |
Palmd |
T |
A |
3: 116,721,070 (GRCm39) |
E127V |
probably damaging |
Het |
Paqr6 |
T |
A |
3: 88,275,024 (GRCm39) |
C262* |
probably null |
Het |
Pdcd11 |
A |
G |
19: 47,112,893 (GRCm39) |
H1301R |
probably benign |
Het |
Plce1 |
C |
A |
19: 38,755,659 (GRCm39) |
D1896E |
probably damaging |
Het |
Ppib |
A |
G |
9: 65,968,747 (GRCm39) |
|
probably null |
Het |
Pzp |
C |
T |
6: 128,479,192 (GRCm39) |
V654M |
probably benign |
Het |
Rab26 |
T |
C |
17: 24,753,071 (GRCm39) |
|
probably benign |
Het |
Recql4 |
A |
G |
15: 76,590,956 (GRCm39) |
L468P |
probably damaging |
Het |
Retreg1 |
C |
T |
15: 25,968,540 (GRCm39) |
Q65* |
probably null |
Het |
Rhpn1 |
C |
T |
15: 75,586,064 (GRCm39) |
T659I |
possibly damaging |
Het |
Rmc1 |
A |
G |
18: 12,322,319 (GRCm39) |
I591V |
probably benign |
Het |
Slc12a5 |
C |
A |
2: 164,834,353 (GRCm39) |
H791Q |
probably damaging |
Het |
Slc40a1 |
G |
A |
1: 45,958,155 (GRCm39) |
Q93* |
probably null |
Het |
Slc4a1 |
T |
C |
11: 102,244,087 (GRCm39) |
M681V |
possibly damaging |
Het |
Slc6a9 |
T |
A |
4: 117,725,352 (GRCm39) |
F493L |
probably benign |
Het |
Smc2 |
A |
G |
4: 52,459,033 (GRCm39) |
E476G |
probably damaging |
Het |
Smco4 |
G |
T |
9: 15,456,090 (GRCm39) |
E59* |
probably null |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,111,054 (GRCm39) |
L167Q |
probably damaging |
Het |
Sult1e1 |
C |
A |
5: 87,724,091 (GRCm39) |
V289L |
probably benign |
Het |
Tbc1d4 |
C |
A |
14: 101,696,318 (GRCm39) |
E877* |
probably null |
Het |
Tenm4 |
A |
T |
7: 96,492,164 (GRCm39) |
I1033F |
probably damaging |
Het |
Tppp2 |
T |
A |
14: 52,156,909 (GRCm39) |
F95L |
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,260,562 (GRCm39) |
V288A |
probably benign |
Het |
Vmn2r41 |
G |
A |
7: 8,141,341 (GRCm39) |
L708F |
probably benign |
Het |
Washc5 |
G |
A |
15: 59,222,018 (GRCm39) |
P126L |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,740,911 (GRCm39) |
I221V |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,659 (GRCm39) |
R628G |
probably benign |
Het |
Zfp207 |
T |
C |
11: 80,282,736 (GRCm39) |
L233P |
probably damaging |
Het |
Zfp827 |
T |
A |
8: 79,797,032 (GRCm39) |
C373S |
probably damaging |
Het |
|
Other mutations in Eml6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Eml6
|
APN |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01407:Eml6
|
APN |
11 |
29,705,021 (GRCm39) |
nonsense |
probably null |
|
IGL01434:Eml6
|
APN |
11 |
29,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01578:Eml6
|
APN |
11 |
29,800,870 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01780:Eml6
|
APN |
11 |
29,755,175 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01821:Eml6
|
APN |
11 |
29,771,699 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01837:Eml6
|
APN |
11 |
29,727,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Eml6
|
APN |
11 |
29,788,613 (GRCm39) |
nonsense |
probably null |
|
IGL01972:Eml6
|
APN |
11 |
29,788,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02134:Eml6
|
APN |
11 |
29,709,066 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02192:Eml6
|
APN |
11 |
29,755,743 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02377:Eml6
|
APN |
11 |
29,727,282 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02584:Eml6
|
APN |
11 |
29,699,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02587:Eml6
|
APN |
11 |
29,734,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02810:Eml6
|
APN |
11 |
29,799,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02873:Eml6
|
APN |
11 |
29,830,700 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02880:Eml6
|
APN |
11 |
29,699,959 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03289:Eml6
|
APN |
11 |
29,745,328 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL03301:Eml6
|
APN |
11 |
29,714,083 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03386:Eml6
|
APN |
11 |
29,699,934 (GRCm39) |
missense |
probably benign |
|
IGL03407:Eml6
|
APN |
11 |
29,856,330 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Eml6
|
UTSW |
11 |
29,752,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Eml6
|
UTSW |
11 |
29,832,088 (GRCm39) |
missense |
probably benign |
0.19 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0271:Eml6
|
UTSW |
11 |
29,798,949 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0304:Eml6
|
UTSW |
11 |
29,727,441 (GRCm39) |
missense |
probably benign |
0.00 |
R0415:Eml6
|
UTSW |
11 |
29,699,392 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0449:Eml6
|
UTSW |
11 |
29,843,213 (GRCm39) |
missense |
probably benign |
0.01 |
R0538:Eml6
|
UTSW |
11 |
29,710,010 (GRCm39) |
splice site |
probably benign |
|
R0671:Eml6
|
UTSW |
11 |
29,755,065 (GRCm39) |
missense |
probably benign |
0.00 |
R0766:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R0800:Eml6
|
UTSW |
11 |
29,699,877 (GRCm39) |
missense |
probably benign |
0.08 |
R0841:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R0879:Eml6
|
UTSW |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
R1061:Eml6
|
UTSW |
11 |
29,727,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1172:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1173:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1174:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1199:Eml6
|
UTSW |
11 |
29,705,044 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1311:Eml6
|
UTSW |
11 |
29,781,088 (GRCm39) |
splice site |
probably benign |
|
R1312:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R1355:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1370:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1457:Eml6
|
UTSW |
11 |
29,974,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Eml6
|
UTSW |
11 |
29,755,114 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1511:Eml6
|
UTSW |
11 |
29,768,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1532:Eml6
|
UTSW |
11 |
29,742,256 (GRCm39) |
splice site |
probably null |
|
R1642:Eml6
|
UTSW |
11 |
29,727,001 (GRCm39) |
critical splice donor site |
probably null |
|
R1682:Eml6
|
UTSW |
11 |
29,709,065 (GRCm39) |
missense |
probably benign |
0.13 |
R1687:Eml6
|
UTSW |
11 |
29,783,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Eml6
|
UTSW |
11 |
29,696,282 (GRCm39) |
nonsense |
probably null |
|
R1796:Eml6
|
UTSW |
11 |
29,831,975 (GRCm39) |
missense |
probably benign |
0.19 |
R1797:Eml6
|
UTSW |
11 |
29,832,041 (GRCm39) |
missense |
probably benign |
0.09 |
R1837:Eml6
|
UTSW |
11 |
29,699,802 (GRCm39) |
splice site |
probably null |
|
R1874:Eml6
|
UTSW |
11 |
29,781,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Eml6
|
UTSW |
11 |
29,974,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Eml6
|
UTSW |
11 |
29,783,075 (GRCm39) |
missense |
probably benign |
|
R2007:Eml6
|
UTSW |
11 |
29,798,814 (GRCm39) |
critical splice donor site |
probably null |
|
R2012:Eml6
|
UTSW |
11 |
29,781,128 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2198:Eml6
|
UTSW |
11 |
29,800,935 (GRCm39) |
missense |
probably benign |
0.01 |
R2217:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Eml6
|
UTSW |
11 |
29,752,434 (GRCm39) |
missense |
probably benign |
0.05 |
R2520:Eml6
|
UTSW |
11 |
29,741,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R2938:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R3085:Eml6
|
UTSW |
11 |
29,759,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R3236:Eml6
|
UTSW |
11 |
29,781,097 (GRCm39) |
critical splice donor site |
probably null |
|
R3738:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3739:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3752:Eml6
|
UTSW |
11 |
29,759,360 (GRCm39) |
missense |
probably benign |
0.06 |
R3854:Eml6
|
UTSW |
11 |
29,699,905 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3941:Eml6
|
UTSW |
11 |
29,753,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R4034:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R4049:Eml6
|
UTSW |
11 |
29,788,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Eml6
|
UTSW |
11 |
29,755,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R4657:Eml6
|
UTSW |
11 |
29,755,108 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4662:Eml6
|
UTSW |
11 |
29,727,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Eml6
|
UTSW |
11 |
29,769,007 (GRCm39) |
nonsense |
probably null |
|
R4721:Eml6
|
UTSW |
11 |
29,788,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4729:Eml6
|
UTSW |
11 |
29,783,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Eml6
|
UTSW |
11 |
29,755,757 (GRCm39) |
missense |
probably benign |
0.22 |
R4810:Eml6
|
UTSW |
11 |
29,705,011 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4831:Eml6
|
UTSW |
11 |
29,727,052 (GRCm39) |
nonsense |
probably null |
|
R5035:Eml6
|
UTSW |
11 |
29,804,187 (GRCm39) |
missense |
probably benign |
0.00 |
R5064:Eml6
|
UTSW |
11 |
29,699,300 (GRCm39) |
missense |
probably benign |
0.12 |
R5121:Eml6
|
UTSW |
11 |
29,694,606 (GRCm39) |
missense |
probably benign |
0.03 |
R5161:Eml6
|
UTSW |
11 |
29,974,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R5211:Eml6
|
UTSW |
11 |
29,804,145 (GRCm39) |
missense |
probably benign |
0.02 |
R5268:Eml6
|
UTSW |
11 |
29,753,108 (GRCm39) |
missense |
probably benign |
0.15 |
R5390:Eml6
|
UTSW |
11 |
29,710,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Eml6
|
UTSW |
11 |
29,714,126 (GRCm39) |
missense |
probably benign |
0.04 |
R6239:Eml6
|
UTSW |
11 |
29,699,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Eml6
|
UTSW |
11 |
29,769,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Eml6
|
UTSW |
11 |
29,759,321 (GRCm39) |
missense |
probably benign |
0.00 |
R6476:Eml6
|
UTSW |
11 |
29,741,971 (GRCm39) |
critical splice donor site |
probably null |
|
R6483:Eml6
|
UTSW |
11 |
29,699,875 (GRCm39) |
missense |
probably benign |
0.00 |
R6701:Eml6
|
UTSW |
11 |
29,735,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R6753:Eml6
|
UTSW |
11 |
29,704,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Eml6
|
UTSW |
11 |
29,753,161 (GRCm39) |
missense |
probably benign |
0.23 |
R6847:Eml6
|
UTSW |
11 |
29,768,447 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Eml6
|
UTSW |
11 |
29,701,381 (GRCm39) |
splice site |
probably null |
|
R7168:Eml6
|
UTSW |
11 |
29,788,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7175:Eml6
|
UTSW |
11 |
29,734,231 (GRCm39) |
missense |
probably benign |
0.00 |
R7305:Eml6
|
UTSW |
11 |
29,727,258 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Eml6
|
UTSW |
11 |
29,752,501 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7692:Eml6
|
UTSW |
11 |
29,703,085 (GRCm39) |
missense |
probably damaging |
0.98 |
R7980:Eml6
|
UTSW |
11 |
29,783,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Eml6
|
UTSW |
11 |
29,699,973 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8046:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R8049:Eml6
|
UTSW |
11 |
29,843,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8114:Eml6
|
UTSW |
11 |
29,704,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Eml6
|
UTSW |
11 |
29,705,008 (GRCm39) |
missense |
probably benign |
0.00 |
R8799:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably benign |
0.11 |
R8945:Eml6
|
UTSW |
11 |
29,703,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8977:Eml6
|
UTSW |
11 |
29,734,182 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8986:Eml6
|
UTSW |
11 |
29,755,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9088:Eml6
|
UTSW |
11 |
29,768,424 (GRCm39) |
missense |
probably damaging |
0.96 |
R9150:Eml6
|
UTSW |
11 |
29,755,791 (GRCm39) |
missense |
probably benign |
0.15 |
R9209:Eml6
|
UTSW |
11 |
29,781,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9467:Eml6
|
UTSW |
11 |
29,769,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9534:Eml6
|
UTSW |
11 |
29,734,155 (GRCm39) |
missense |
possibly damaging |
0.45 |
RF037:Eml6
|
UTSW |
11 |
29,702,549 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF039:Eml6
|
UTSW |
11 |
29,702,551 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|