1 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1192-1G>C |
SNV |
Pathogenic |
828127 |
|
21:43795978-43795978 |
21:42375869-42375869 |
2 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.582T>A (p.Cys194Ter) |
SNV |
Pathogenic |
402283 |
rs1060499811 |
21:43804113-43804113 |
21:42384004-42384004 |
3 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.783-1G>T |
SNV |
Pathogenic |
562094 |
rs1237955948 |
21:43802344-43802344 |
21:42382235-42382235 |
4 |
TMPRSS3 |
TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS |
indel |
Pathogenic |
4942 |
|
|
|
5 |
TMPRSS3 |
TMPRSS3, IVS4AS, G-A, -6 |
SNV |
Pathogenic |
4943 |
|
|
|
6 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) |
SNV |
Pathogenic |
4944 |
rs137852999 |
21:43803171-43803171 |
21:42383062-42383062 |
7 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.1211C>T (p.Pro404Leu) |
SNV |
Pathogenic |
4945 |
rs28939084 |
21:43795961-43795961 |
21:42375852-42375852 |
8 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu) |
SNV |
Pathogenic |
4946 |
rs137853000 |
21:43803277-43803277 |
21:42383168-42383168 |
9 |
TMPRSS3 |
TMPRSS3, 1-BP DEL, 207C |
deletion |
Pathogenic |
30492 |
|
|
|
10 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.308A>G (p.Asp103Gly) |
SNV |
Pathogenic |
30493 |
rs387906915 |
21:43809052-43809052 |
21:42388943-42388943 |
11 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.1048+1G>A |
SNV |
Pathogenic |
627482 |
rs1429442821 |
21:43800225-43800225 |
21:42380116-42380116 |
12 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) |
SNV |
Pathogenic |
46131 |
rs181949335 |
21:43802210-43802210 |
21:42382101-42382101 |
13 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.208del (p.His70fs) |
deletion |
Pathogenic/Likely pathogenic |
165492 |
rs727503493 |
21:43809152-43809152 |
21:42389043-42389043 |
14 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) |
SNV |
Pathogenic/Likely pathogenic |
46102 |
rs56264519 |
21:43795896-43795896 |
21:42375787-42375787 |
15 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) |
SNV |
Pathogenic/Likely pathogenic |
46119 |
rs147231991 |
21:43808545-43808545 |
21:42388436-42388436 |
16 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) |
SNV |
Likely pathogenic |
178549 |
rs372526764 |
21:43803197-43803197 |
21:42383088-42383088 |
17 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) |
SNV |
Conflicting interpretations of pathogenicity |
179855 |
rs146159479 |
21:43809121-43809121 |
21:42389012-42389012 |
18 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln) |
SNV |
Conflicting interpretations of pathogenicity |
197857 |
rs139484231 |
21:43808632-43808632 |
21:42388523-42388523 |
19 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) |
SNV |
Conflicting interpretations of pathogenicity |
225495 |
rs185332310 |
21:43809148-43809148 |
21:42389039-42389039 |
20 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) |
SNV |
Conflicting interpretations of pathogenicity |
46097 |
rs113747896 |
21:43796722-43796722 |
21:42376613-42376613 |
21 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) |
SNV |
Conflicting interpretations of pathogenicity |
46098 |
rs111033292 |
21:43796716-43796716 |
21:42376607-42376607 |
22 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) |
SNV |
Conflicting interpretations of pathogenicity |
46101 |
rs56178910 |
21:43795897-43795897 |
21:42375788-42375788 |
23 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) |
SNV |
Conflicting interpretations of pathogenicity |
46114 |
rs201632198 |
21:43808633-43808633 |
21:42388524-42388524 |
24 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) |
SNV |
Conflicting interpretations of pathogenicity |
46134 |
rs397517379 |
21:43800299-43800299 |
21:42380190-42380190 |
25 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) |
SNV |
Conflicting interpretations of pathogenicity |
178547 |
rs186972955 |
21:43795837-43795837 |
21:42375728-42375728 |
26 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) |
SNV |
Conflicting interpretations of pathogenicity |
178683 |
rs147181936 |
21:43802337-43802337 |
21:42382228-42382228 |
27 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) |
SNV |
Conflicting interpretations of pathogenicity |
177981 |
rs150397427 |
21:43805593-43805593 |
21:42385484-42385484 |
28 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) |
SNV |
Conflicting interpretations of pathogenicity |
46103 |
rs114904237 |
21:43795863-43795863 |
21:42375754-42375754 |
29 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) |
SNV |
Conflicting interpretations of pathogenicity |
46104 |
rs201018751 |
21:43795829-43795829 |
21:42375720-42375720 |
30 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys) |
SNV |
Conflicting interpretations of pathogenicity |
666988 |
|
21:43795866-43795866 |
21:42375757-42375757 |
31 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.1194+10C>T |
SNV |
Conflicting interpretations of pathogenicity |
736897 |
|
21:43796640-43796640 |
21:42376531-42376531 |
32 |
TMPRSS3 |
NM_024022.3(TMPRSS3):c.1269C>T (p.Ile423=) |
SNV |
Uncertain significance |
595601 |
rs372469227 |
21:43795903-43795903 |
21:42375794-42375794 |
33 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) |
SNV |
Uncertain significance |
440339 |
rs143762350 |
21:43809080-43809080 |
21:42388971-42388971 |
34 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.*53G>A |
SNV |
Uncertain significance |
897375 |
|
21:43792818-43792818 |
21:42372709-42372709 |
35 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=) |
SNV |
Uncertain significance |
898535 |
|
21:43796764-43796764 |
21:42376655-42376655 |
36 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) |
SNV |
Uncertain significance |
895546 |
|
21:43800255-43800255 |
21:42380146-42380146 |
37 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) |
SNV |
Uncertain significance |
895547 |
|
21:43800270-43800270 |
21:42380161-42380161 |
38 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) |
SNV |
Uncertain significance |
895548 |
|
21:43802270-43802270 |
21:42382161-42382161 |
39 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) |
SNV |
Uncertain significance |
896949 |
|
21:43805640-43805640 |
21:42385531-42385531 |
40 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) |
SNV |
Uncertain significance |
897438 |
|
21:43808547-43808547 |
21:42388438-42388438 |
41 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) |
SNV |
Uncertain significance |
897439 |
|
21:43808586-43808586 |
21:42388477-42388477 |
42 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=) |
SNV |
Uncertain significance |
897440 |
|
21:43809147-43809147 |
21:42389038-42389038 |
43 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr) |
SNV |
Uncertain significance |
898607 |
|
21:43810080-43810080 |
21:42389971-42389971 |
44 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.-78T>A |
SNV |
Uncertain significance |
895619 |
|
21:43816077-43816077 |
21:42395968-42395968 |
45 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1344+9G>A |
SNV |
Uncertain significance |
897376 |
|
21:43795816-43795816 |
21:42375707-42375707 |
46 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1344+8C>T |
SNV |
Uncertain significance |
897377 |
|
21:43795817-43795817 |
21:42375708-42375708 |
47 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1048+5G>A |
SNV |
Uncertain significance |
898536 |
|
21:43800221-43800221 |
21:42380112-42380112 |
48 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.573-8C>T |
SNV |
Uncertain significance |
896948 |
|
21:43804130-43804130 |
21:42384021-42384021 |
49 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) |
SNV |
Uncertain significance |
873474 |
|
21:43796693-43796693 |
21:42376584-42376584 |
50 |
TMPRSS3 |
NM_001256317.3(TMPRSS3):c.*805T>C |
SNV |
Uncertain significance |
897297 |
|
21:43792066-43792066 |
21:42371957-42371957 |