1 |
MESP2 |
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) |
duplication |
Pathogenic |
5183 |
rs113994158 |
15:90320084-90320085 |
15:89776853-89776854 |
2 |
MESP2 |
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) |
SNV |
Pathogenic |
5184 |
rs71647808 |
15:90319895-90319895 |
15:89776664-89776664 |
3 |
MESP2 |
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) |
SNV |
Pathogenic |
5185 |
rs71647806 |
15:90319961-90319961 |
15:89776730-89776730 |
4 |
MESP2 |
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) |
SNV |
Pathogenic |
5186 |
rs118204035 |
15:90320288-90320288 |
15:89777057-89777057 |
5 |
MESP2 |
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) |
SNV |
Pathogenic |
38908 |
rs113994156 |
15:90319859-90319859 |
15:89776628-89776628 |
6 |
MESP2 |
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) |
SNV |
Pathogenic |
38909 |
rs113994157 |
15:90319973-90319973 |
15:89776742-89776742 |
7 |
MESP2 |
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) |
SNV |
Likely pathogenic |
38907 |
rs118204034 |
15:90319829-90319829 |
15:89776598-89776598 |
8 |
MESP2 |
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) |
SNV |
Likely pathogenic |
554878 |
rs1555439013 |
15:90319599-90319599 |
15:89776368-89776368 |
9 |
MESP2 |
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) |
SNV |
Likely pathogenic |
556996 |
rs1555439118 |
15:90320174-90320174 |
15:89776943-89776943 |
10 |
MESP2 |
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) |
deletion |
Likely pathogenic |
555370 |
rs1452984345 |
15:90319844-90319847 |
15:89776613-89776616 |
11 |
MESP2 |
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) |
duplication |
Likely pathogenic |
557032 |
rs1555439061 |
15:90319930-90319931 |
15:89776699-89776700 |
12 |
MESP2 |
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) |
SNV |
Likely pathogenic |
552595 |
rs912110093 |
15:90319636-90319636 |
15:89776405-89776405 |
13 |
MESP2 |
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) |
SNV |
Likely pathogenic |
557334 |
rs762067626 |
15:90319838-90319838 |
15:89776607-89776607 |
14 |
MESP2 |
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) |
SNV |
Likely pathogenic |
551110 |
rs538996447 |
15:90319817-90319817 |
15:89776586-89776586 |
15 |
MESP2 |
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) |
SNV |
Likely pathogenic |
554365 |
rs1555439152 |
15:90320325-90320325 |
15:89777094-89777094 |
16 |
MESP2 |
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) |
SNV |
Likely pathogenic |
555826 |
rs1206731716 |
15:90319704-90319704 |
15:89776473-89776473 |
17 |
MESP2 |
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) |
duplication |
Likely pathogenic |
557590 |
rs1555439049 |
15:90319832-90319833 |
15:89776601-89776602 |
18 |
MESP2 |
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) |
SNV |
Likely pathogenic |
551651 |
rs1555439063 |
15:90319937-90319937 |
15:89776706-89776706 |
19 |
MESP2 |
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) |
SNV |
Conflicting interpretations of pathogenicity |
751329 |
|
15:90319777-90319777 |
15:89776546-89776546 |
20 |
MESP2 |
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) |
SNV |
Conflicting interpretations of pathogenicity |
845537 |
|
15:90320105-90320105 |
15:89776874-89776874 |
21 |
MESP2 |
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) |
SNV |
Conflicting interpretations of pathogenicity |
257250 |
rs752665246 |
15:90321328-90321328 |
15:89778097-89778097 |
22 |
MESP2 |
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=) |
SNV |
Conflicting interpretations of pathogenicity |
317395 |
rs762014488 |
15:90321451-90321451 |
15:89778220-89778220 |
23 |
MESP2 |
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) |
SNV |
Conflicting interpretations of pathogenicity |
317388 |
rs767474985 |
15:90320149-90320149 |
15:89776918-89776918 |
24 |
MESP2 |
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) |
SNV |
Conflicting interpretations of pathogenicity |
317389 |
rs113097169 |
15:90320161-90320161 |
15:89776930-89776930 |
25 |
MESP2 |
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) |
SNV |
Conflicting interpretations of pathogenicity |
714558 |
|
15:90319756-90319756 |
15:89776525-89776525 |
26 |
MESP2 |
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) |
SNV |
Conflicting interpretations of pathogenicity |
317385 |
rs566641514 |
15:90319773-90319773 |
15:89776542-89776542 |
27 |
MESP2 |
NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala) |
SNV |
Uncertain significance |
317386 |
rs764078106 |
15:90320142-90320142 |
15:89776911-89776911 |
28 |
MESP2 |
NM_001039958.2(MESP2):c.585A>G (p.Gly195=) |
SNV |
Uncertain significance |
317390 |
rs113636330 |
15:90320173-90320173 |
15:89776942-89776942 |
29 |
MESP2 |
NM_001039958.2(MESP2):c.597A>G (p.Gly199=) |
SNV |
Uncertain significance |
317391 |
rs778503063 |
15:90320185-90320185 |
15:89776954-89776954 |
30 |
MESP2 |
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) |
SNV |
Uncertain significance |
317392 |
rs377023417 |
15:90320190-90320190 |
15:89776959-89776959 |
31 |
MESP2 |
NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu) |
SNV |
Uncertain significance |
317394 |
rs886051546 |
15:90320379-90320379 |
15:89777148-89777148 |
32 |
MESP2 |
NM_001039958.2(MESP2):c.*101G>C |
SNV |
Uncertain significance |
317396 |
rs761831896 |
15:90321666-90321666 |
15:89778435-89778435 |
33 |
MESP2 |
NM_001039958.2(MESP2):c.*182C>T |
SNV |
Uncertain significance |
317399 |
rs553766281 |
15:90321747-90321747 |
15:89778516-89778516 |
34 |
MESP2 |
NM_001039958.2(MESP2):c.*210C>G |
SNV |
Uncertain significance |
317400 |
rs886051548 |
15:90321775-90321775 |
15:89778544-89778544 |
35 |
MESP2 |
NM_001039958.2(MESP2):c.*107T>C |
SNV |
Uncertain significance |
317397 |
rs187988937 |
15:90321672-90321672 |
15:89778441-89778441 |
36 |
MESP2 |
NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu) |
SNV |
Uncertain significance |
317387 |
rs776642665 |
15:90320144-90320144 |
15:89776913-89776913 |
37 |
MESP2 |
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) |
SNV |
Uncertain significance |
887534 |
|
15:90319806-90319806 |
15:89776575-89776575 |
38 |
MESP2 |
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg) |
SNV |
Uncertain significance |
886400 |
|
15:90320270-90320270 |
15:89777039-89777039 |
39 |
MESP2 |
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=) |
SNV |
Uncertain significance |
886401 |
|
15:90321388-90321388 |
15:89778157-89778157 |
40 |
MESP2 |
NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn) |
SNV |
Uncertain significance |
886402 |
|
15:90321434-90321434 |
15:89778203-89778203 |
41 |
MESP2 |
NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu) |
SNV |
Uncertain significance |
887405 |
|
15:90321444-90321444 |
15:89778213-89778213 |
42 |
MESP2 |
NM_001039958.2(MESP2):c.*10G>A |
SNV |
Uncertain significance |
887406 |
|
15:90321575-90321575 |
15:89778344-89778344 |
43 |
MESP2 |
NM_001039958.2(MESP2):c.*50G>A |
SNV |
Uncertain significance |
887407 |
|
15:90321615-90321615 |
15:89778384-89778384 |
44 |
MESP2 |
NM_001039958.2(MESP2):c.*118G>A |
SNV |
Uncertain significance |
887408 |
|
15:90321683-90321683 |
15:89778452-89778452 |
45 |
MESP2 |
NM_001039958.2(MESP2):c.*169G>A |
SNV |
Uncertain significance |
887409 |
|
15:90321734-90321734 |
15:89778503-89778503 |
46 |
MESP2 |
NM_001039958.2(MESP2):c.*229T>C |
SNV |
Uncertain significance |
887588 |
|
15:90321794-90321794 |
15:89778563-89778563 |
47 |
MESP2 |
NM_001039958.2(MESP2):c.*318G>A |
SNV |
Uncertain significance |
887589 |
|
15:90321883-90321883 |
15:89778652-89778652 |
48 |
MESP2 |
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs) |
deletion |
Uncertain significance |
557578 |
rs1555439104 |
15:90320135-90320144 |
15:89776904-89776913 |
49 |
MESP2 |
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7]) |
deletion |
Uncertain significance |
552837 |
rs771492607 |
15:90320138-90320173 |
15:89776907-89776942 |
50 |
MESP2 |
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12]) |
deletion |
Uncertain significance |
554295 |
rs1555439121 |
15:90320186-90320191 |
15:89776955-89776960 |