2 |
c.-26G>A |
- |
- |
203G>A |
5'UTR |
13: 32890572 |
rs1799943 |
0.20927 (A) |
0,24652 |
0,20927 |
0,20883 |
0,22032 |
0,21567 |
0.217570 |
- |
- |
- |
- |
ND |
Benign / Little Clinical Significance |
ND |
ND |
Benign |
Benign |
21 |
2 |
c.-15A>C |
- |
- |
214A>C |
5'UTR |
13: 32890583 |
rs138705202 |
0.00080 (C) |
0.00022 |
0,0008 |
0,00038 |
0,00064 |
0,00076 |
0.002463 |
- |
- |
- |
- |
ND |
Not Yet Reviewed |
ND |
ND |
Benign/ Likely Benign |
Likely benign |
1 |
2 |
c.-11C>T |
- |
- |
218C>T |
5'UTR |
13: 32890587 |
rs76874770 |
0.00439 (T) |
0,00163 |
0,00439 |
0,00584 |
0,0051 |
0,00546 |
0.007389 |
- |
- |
- |
- |
ND |
Benign / Little Clinical Significance |
ND |
ND |
Benign |
Benign |
2 |
2 |
c.2T>G |
p.Met1Arg |
M1R |
- |
M |
13: 32890599 |
rs80358547 |
- |
0,00001 |
- |
- |
0,00001 |
- |
- |
Damaging (0.00) |
Probably Damaging (0.998) |
Deleterious |
Class C65 |
ND |
Not Yet Reviewed |
5-Definitely pathogenic |
5-Causal |
Pathogenic? |
Pathogenic |
1 |
3 |
c.125A>G |
p.Tyr42Cys |
Y42C |
353A>G |
M |
13: 32893271 |
rs4987046 |
0.00080 (G) |
0,0017 |
0,0008 |
0,00246 |
0,00162 |
0,00158 |
0.001642 |
Tolerate (0.12) |
Benign (0.090) |
Neutral |
Class C0 |
Activation of an exonic cryptic donor site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
1-Not pathogenic or of no clinical significance |
1-Neutral |
Benign |
Benign |
1 |
4 |
c.425+33A>G |
- |
- |
IVS4+33A>C |
IVS |
13: 32899354 |
rs200065709 |
0.00060 (G) |
0,00052 |
0,0006 |
0,00031 |
0.00010 |
0,00029 |
0.000821 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Not Yet Reviewed |
ND |
2-Likely Neutral |
Benign/ Likely Benign |
Likely benign |
1 |
4 |
c.425+67A>C |
- |
- |
IVS4+67A>C |
IVS |
13: 32899388 |
rs11571610 |
0.07428 (C) |
- |
0,07428 |
- |
0,03064 |
0,03973 |
0.045156 |
- |
- |
- |
- |
Alteration of an intronic ESS site. Probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
6 |
6 |
c.517-19C>T |
- |
- |
IVS6-19C>T |
IVS |
13: 32900617 |
rs11571623 |
0.00819 (T) |
0,00219 |
0,00819 |
0,00738 |
0,00586 |
0,007 |
0.003284 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
2 |
8 |
c.681+56C>T |
- |
- |
IVS8+56C>T |
IVS |
13: 32903685 |
rs2126042 |
0.18590 (T) |
- |
0,1859 |
- |
0,21627 |
0,20076 |
0.184729 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Not Yet Reviewed |
ND |
1-Neutral |
Benign |
Benign |
17 |
10 |
c.865A>C |
p.Asn289His |
N289H |
1093A>C |
M |
13: 32906480 |
rs766173 |
0.07368 (C) |
- |
0,07368 |
0,03055 |
0,03055 |
0,03968 |
0.045156 |
Damaging (0.003) |
Benign (0.278) |
Neutral |
Class C0 |
Alteration of an exonic ESE site. Potential alteration of splicing |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
7 |
10 |
c.1114A>C |
p.His372Asn |
H372N |
1342 A>C |
M |
13: 32906729 |
rs144848 |
0.24940 (C) |
0,27793 |
0,2494 |
- |
0,22303 |
0,23657 |
0.259442 |
Tolerated (0.35) |
Benign (0.00) |
Neutral |
Class C0 |
Alteration of an exonic ESE site. |
Benign / Little Clinical Significance |
1-Not pathogenic or of no clinical significance |
1-Neutral |
Benign |
Benign |
19 |
10 |
c.1365A>G |
p.Ser455= |
S455= |
1593A>G |
Syn |
13: 32906980 |
rs1801439 |
0.07368 (G) |
0,05178 |
7368 |
0,03101 |
0,03048 |
0,03968 |
0.045156 |
- |
- |
Neutral |
- |
Alteration of an exonic ESE site. Potential alteration of splicing |
ND |
ND |
1-Neutral |
Benign |
Benign |
7 |
10 |
c.1514T>C |
p.Ile505Thr |
I505T |
|
M |
13: 32907129 |
rs28897708 |
0.00040 (C) |
0,00072 |
0,0004 |
0,00077 |
0,00083 |
0,00065 |
0.000821 |
Tolerated (0.1) |
Possibly Damaging (0.651) |
Neutral |
Class C0 |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
1-Not pathogenic or of no clinical significance |
1-Neutral |
Benign |
Benign |
1 |
10 |
c.1909+92_1909+96del |
- |
- |
IVS10+92del5 |
IVS |
13: 32907615-32907620 |
rs144549870 |
0.01577 (TAT) |
- |
- |
- |
- |
- |
0.006568 |
- |
- |
- |
- |
- |
ND |
ND |
ND |
Benign |
Benign |
2 |
10 |
c.1910-74T>C |
- |
- |
IVS10-74T>C |
IVS |
13: 32910328 |
rs2320236 |
0.17452 (C) |
- |
0,17452 |
- |
0,20561 |
0,20561 |
rs2320236 |
- |
- |
- |
- |
Creation of an intronic ESE site. Probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
14 |
10 |
c.1910-51G>T |
- |
- |
IVS10-51G>T |
IVS |
13: 32910351 |
rs11571651 |
0.07348 (T) |
0,04934 |
0,07348 |
0,03056 |
0,03041 |
0,03968 |
0.045977 |
- |
- |
- |
- |
Alteration of an intronic ESS site. Probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
6 |
11 |
c.2229T>C |
p.His743= |
H743= |
2457T>C |
Syn |
13: 32910721 |
rs1801499 |
0.07348 (C) |
0,05158 |
0.07348 |
0,03129 |
0,03065 |
0,03972 |
0.045156 |
- |
- |
Neutral |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
7 |
11 |
c.2350A>G |
p.Met784Val |
M784V |
2578A>G |
M |
13: 32910842 |
rs11571653 |
0.00359 (G) |
0,00031 |
0,00359 |
- |
0,00023 |
0,00022 |
0.002463 |
Tolerated (1.00) |
Benign (0.00) |
Neutral |
Class C0 |
Creation of an exonic ESS site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
3-Uncertain |
3-UV |
Benign |
Benign |
1 |
11 |
c.2971A>G |
p.Asn991Asp |
N991D |
3199A>G |
M |
13: 32911463 |
rs1799944 |
0.08007 (G) |
0,05341 |
0,08007 |
0,03725 |
0,03723 |
0,0461 |
0.046798 |
Tolerated (1.00) |
Benign (0.00) |
Neutral |
Class C0 |
Alteration of an exonic ESE site. Potential alteration of splicing |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
7 |
11 |
c.3264T>C |
p.Pro1088= |
P1088= |
3492T>C |
Syn |
13: 32911756 |
rs36060526 |
0.00679 (C) |
0.00238 |
0,00679 |
0,00756 |
0,00762 |
0,00756 |
0.006568 |
- |
- |
Neutral |
- |
ND |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
11 |
c.3371A>G |
p.Gln1124Arg |
Q1124R |
|
M |
13: 32911863 |
rs1555283204 |
- |
- |
- |
- |
- |
- |
- |
Damaging (0.01) |
Probably Damaging (1.00) |
Deleterious |
Class C35 |
Activation of an exonic cryptic donor site. Potential alteration of splicing. |
Not Yet Reviewed |
ND |
ND |
Uncertain significance |
Uncertain significance |
1 |
11 |
c.3396A>G |
p.Lys1132= |
L1132= |
3624A>G |
Syn |
13: 32911888 |
rs1801406 |
0.26677 (G) |
0,29449 |
0,26677 |
0,27984 |
0,29762 |
0,28221 |
0.283251 |
- |
- |
Neutral |
- |
Alteration of an exonic ESE site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
23 |
11 |
c.3807T>C |
p.Val1269= |
V1269= |
4035T>C |
Syn |
13: 32912299 |
rs543304 |
0.16813 (C) |
0,18985 |
0,16813 |
0,19111 |
0,18144 |
0,18622 |
0.187192 |
- |
- |
Neutral |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
23 |
11 |
c.4068G>A |
p.Leu1356= |
L1356= |
4296G>A |
Syn |
13: 32912560 |
rs28897724 |
0.00040 (A) |
0,00305 |
0,0004 |
0,00315 |
0.00245 |
0,00312 |
0.002463 |
- |
- |
Neutral |
- |
ND |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
11 |
c.4090A>C |
p.Ile1364Leu |
I1364L |
4318A>C |
M |
13: 32912582 |
rs56248502 |
0.00439 (C) |
0,00172 |
0,00439 |
0,00631 |
|
0,00577 |
0.006568 |
Tolerated (0.76) |
Benign (0.001) |
Neutral |
Class C0 |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
2 |
11 |
c.4258G>T |
p.Asp1420Tyr |
D1420Y |
4486G>T |
M |
13: 32912750 |
rs28897727 |
0.00399 (T) |
0,0068 |
0,00399 |
0,00396 |
0,00794 |
0,00425 |
0.001642 |
Damaging (0.01) |
Benign (0.030) |
Deleterious |
Class C15 |
ND |
Benign / Little Clinical Significance |
1-Not pathogenic or of no clinical significance |
1-Neutral |
Benign |
Benign |
1 |
11 |
c.5418A>G |
p.Glu1806= |
E1806= |
5646A>G |
Syn |
13: 32913910 |
rs34351119 |
0.00679 (G) |
0,00233 |
0,00679 |
0,0083 |
0,00764 |
0,00785 |
0.006568 |
- |
- |
Neutral |
- |
ND |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
11 |
c.5640T>G |
p.Asn1880Lys |
N1880K |
5868T>G |
M |
13: 32914132 |
rs11571657 |
0.00220 (G) |
0,00076 |
0,0022 |
0,00315 |
0,00264 |
0,00294 |
0.000821 |
Damaging (0.05) |
Benign (0.167) |
Neutral |
Class C0 |
Creation of an exonic ESS site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
2-Likely not pathogenic or of little clinical significance |
2-Likely Neutral |
Benign/Likely Benign |
Likely benign |
1 |
11 |
c.5645C>A |
p.Ser1882Ter |
S1882X |
5873C>A |
N |
13: 32914137 |
rs80358785 |
- |
0,00002 |
- |
- |
0,00002 |
0,00002 |
- |
- |
- |
- |
- |
Alteration of an exonic ESE site. Potential alteration of splicing. |
Pathogenic |
5-Definitely pathogenic |
5-Causal |
Pathogenic |
Pathogenic |
1 |
11 |
c.5744C>T |
p.Thr1915Met |
T1915M |
5972C>T |
M |
13: 32914236 |
rs4987117 |
0.00859 (T) |
0,02114 |
0,02114 |
0,02114 |
0.00859 (T) |
0,01744 |
0.017241 |
Tolerated (0.13) |
Benign (0.000) |
Neutral |
Class C0 |
Creation of an exonic ESS site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
2 |
11 |
c.5768A>C |
p.Asp1923Ala |
D1923A |
5996A>C |
M |
13: 32914260 |
rs45491005 |
0.00020 (C) |
- |
0,0002 |
0,0002 |
0.00054 |
0.00105 |
- |
Tolerated (0.29) |
Benign (0.144) |
Deleterious |
Class C0 |
Alteration of an exonic ESE site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
2-Likely not pathogenic or of little clinical significance |
2-Likely Neutral |
Benign |
Likely benign |
1 |
11 |
c.6841+53delTATTCAGTAG |
- |
- |
- |
IVS |
13: 32915384-32915394 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Alteration of an intronic ESS site. Probably no impact on splicing. |
ND |
ND |
ND |
ND |
Uncertain Significance |
1 |
11 |
c.6841+80delTTAA |
- |
- |
IVS11+80delTTAA |
IVS |
13: 32915411-32915414 |
rs11571661 |
0.26578 (AA) |
- |
- |
- |
- |
- |
0.279605 |
- |
- |
- |
- |
Creation of an intronic ESE site. Probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
7 |
14 |
c.7017G>C |
p.Lys2339Asn |
K2339N |
7245 G>C |
M |
13: 32929007 |
rs45574331 |
0.00679 (C) |
0,00228 |
0,00679 |
0,00808 |
0,00764 |
0,00786 |
0.006568 |
Damaging (0.01) |
Benign (0.105) |
Neutral |
Class C0 |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
2-Likely Neutral |
Benign |
Benign |
1 |
14 |
c.7242A>G |
p.Ser2414= |
S2114= |
7470A>G |
Syn |
13: 32929232 |
rs1799955 |
0.23263 (G) |
- |
0,23263 |
0,21136 |
- |
0,22464 |
0.238095 |
- |
- |
Neutral |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
19 |
14 |
c.7319A>G |
p.His2440Arg |
H2440R |
7547A>G |
M |
13: 32929309 |
rs4986860 |
0.01038 (G) |
0,00304 |
0,01038 |
0,01054 |
0,00946 |
0,00967 |
0.007389 |
Tolerated (0.55) |
Benign (0.002) |
Neutral |
Class C0 |
ND |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
14 |
c.7397T>C |
p.Ala2466Val |
A2466V |
- |
M |
13: 32929387 |
rs169547 |
0.02416 (T) |
0,99372 |
0.97584 |
0,9777 |
0,97881 |
0,98191 |
0.983580 |
Tolerated (0.98) |
Possibly Damaging (0.793) |
Neutral |
Class C0 |
ND |
ND |
ND |
1-Neutral |
Benign |
Benign |
50 |
14 |
c.7435+53C>T |
- |
- |
IVS14+53C>T |
IVS |
13: 32929478 |
rs11147489 |
0.07248 (T) |
- |
0,07248 |
- |
0,0301 |
0,03924 |
- |
- |
- |
- |
- |
Creation of an intronic ESE site. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
15 |
c.7469T>C |
p.Ile2490Thr |
I2490T |
7697T>C |
M |
13: 32930598 |
rs11571707 |
0.01597 (C) |
0,01436 |
0.01597 |
0,00161 |
0,0035 |
0,00913 |
0.021346 |
Tolerated (1.00) |
Benign (0.010) |
Neutral |
Class C45 |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
17 |
c.7806-14T>C |
- |
- |
IVS16-14T>C |
IVS |
13: 32936646 |
rs9534262 |
0.46845 (T) |
0,52083 |
0,53155 |
0,52015 |
0,54679 |
0,53151 |
0.523810 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
3-UV |
Benign |
Likely benign |
36 |
19 |
c.8460A>C |
p.Val2820= |
V2820= |
8688A>C |
Syn |
13: 32944667 |
rs9590940 |
0.01438 (C) |
0,00368 |
0,01438 |
0,01299 |
0,01105 |
0,01219 |
0.006568 |
- |
- |
Neutral |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
2 |
19 |
c.8487+47C>T |
- |
- |
IVS19+47C>T |
IVS |
13: 32944741 |
rs11571744 |
0.01617 (T) |
- |
0,01617 |
0,01523 |
- |
0,01481 |
0.006568 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
3-UV |
Benign |
Benign |
3 |
20 |
c.8632+132dup |
- |
- |
c.IVS20+132insC |
IVS |
13: 32945368-32945369 |
rs201392123 |
0.00899 (CC) |
- |
0.00899 |
- |
0,00619 |
0,00754 |
0.002627 |
- |
- |
- |
- |
ND |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
2 |
21 |
c.8755-66T>C |
- |
- |
IVS21-66T>C |
IVS |
13: 32953388 |
rs4942486 |
0.48842 (T) |
- |
0,51158 |
- |
0,52569 |
0,51037 |
0.508210 |
- |
- |
- |
- |
Alteration of an intronic ESS site. Probably no impact on splicing. Creation of an intronic ESE site. Probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
38 |
22 |
c.8851G>A |
p.Ala2951Thr |
A2951T |
9079G>A |
M |
13: 32953550 |
rs11571769 |
0.00998 (A) |
0,00785 |
0.00998 |
0,00438 |
0,00363 |
0,00721 |
0.013136 |
Damaging (0.00) |
Probably Damaging (1.00) |
Neutral |
Class C55 |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
22 |
c.8942A>G |
p.Glu2981Gly |
E2981G |
9170A>G |
M |
13: 32953641 |
rs398122716 |
- |
0,00001 |
- |
- |
0,00002 |
0,00001 |
- |
Tolerated (0.16) |
Benign (0.030) |
Neutral |
Class C65 |
ND |
ND |
ND |
3-UV |
Conflicting interpretations of pathogenicity? Likely benign(1);Uncertain significance(3) |
Uncertain significance |
1 |
23 |
c.9038C>T |
p.Thr3013Ile |
T3013I |
- |
M |
13: 32953971 |
rs28897755 |
- |
0,00023 |
- |
0,00046 |
0,00019 |
0,0002 |
- |
Tolerated (0.24) |
Probably Damaging (0.875) |
Neutral |
Class C0 |
ND |
Benign / Little Clinical Significance |
1-Not pathogenic or of no clinical significance |
1-Neutral |
Benign |
Benign |
1 |
24 |
c.9257-83G>A |
- |
- |
IVS24-83G>A |
IVS |
13: 32968743 |
rs9595456 |
0.05052 (A) |
- |
0,05052 |
- |
0,04116 |
0.04575 |
0.022989 |
- |
- |
- |
- |
Creation of an intronic ESE site. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
4 |
24 |
c.9257-16T>C |
- |
- |
IVS24-16T>C |
IVS |
13: 32968810 |
rs11571818 |
0.00439 (C) |
0,00439 |
0,00765 |
0,00592 |
0,00548 |
0,00548 |
0.004926 |
- |
- |
- |
- |
No significant splicing motif alteration detected. This mutation has probably no impact on splicing. |
ND |
ND |
3-UV |
Benign |
Likely benign |
1 |
27 |
c.9730G>A |
p.Val3244Ile |
V3244I |
9958 G>A |
M |
13: 32972380 |
rs11571831 |
0.00679 (A) |
- |
- |
0,0083 |
0,00767 |
0,00787 |
- |
Tolerated (0.49) |
Benign (0.000) |
Neutral |
Class C0 |
ND |
Benign / Little Clinical Significance |
ND |
2-Likely Neutral |
Benign |
Benign |
1 |
27 |
c.9976A>T |
p.Lys3326Ter |
K3326X |
10204A>T |
N |
13: 32972626 |
rs11571833 |
0.00439 (T) |
0,00702 |
0,00439 |
0.00646 |
0,00544 |
0,00547 |
0.004926 |
- |
- |
- |
- |
Creation of an exonic ESS site. Potential alteration of splicing. Alteration of an exonic ESE site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
2-Likely not pathogenic or of little clinical significance |
1-Neutral |
Benign |
Benign |
1 |
27 |
c.10110G>A |
p.Arg3370= |
R3370= |
- |
Syn |
13: 32972760 |
rs28897762 |
0.00080 (A) |
0,00147 |
0,0008 |
0,00215 |
0,0014 |
0,00131 |
0.000821 |
- |
- |
Neutral |
- |
Alteration of an exonic ESE site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
1 |
27 |
c.10234A>G |
p.Ile3412Val |
I3412V |
10462 A>G |
M |
13: 32972884 |
rs1801426 |
0.04493 (G) |
0,02266 |
0,04493 |
0,03729 |
0,0369 |
0,04054 |
0.021346 |
Tolerrated (0.34) |
Benign (0.002) |
Neutral |
Class C0 |
Alteration of an exonic ESE site. Potential alteration of splicing. |
Benign / Little Clinical Significance |
ND |
1-Neutral |
Benign |
Benign |
4 |