1 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) |
SNV |
Pathogenic
|
16573 |
rs121434575 |
GRCh37: 13:103520502-103520502 GRCh38: 13:102868152-102868152 |
2 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) |
DEL |
Pathogenic
|
16575 |
rs786200920 |
GRCh37: 13:103514990-103514990 GRCh38: 13:102862640-102862640 |
3 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) |
DEL |
Pathogenic
|
16576 |
rs752661599 |
GRCh37: 13:103524612-103524612 GRCh38: 13:102872262-102872262 |
4 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) |
SNV |
Pathogenic
|
16578 |
rs121434577 |
GRCh37: 13:103506663-103506663 GRCh38: 13:102854313-102854313 |
5 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) |
SNV |
Pathogenic
|
41495 |
rs267607281 |
GRCh37: 13:103498699-103498699 GRCh38: 13:102846349-102846349 |
6 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) |
SNV |
Pathogenic
|
41496 |
rs267607280 |
GRCh37: 13:103525633-103525633 GRCh38: 13:102873283-102873283 |
7 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) |
SNV |
Pathogenic
|
16566 |
rs121434570 |
GRCh37: 13:103524747-103524747 GRCh38: 13:102872397-102872397 |
8 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) |
MICROSAT |
Pathogenic
|
802997 |
rs1595382501 |
GRCh37: 13:103514020-103514021 GRCh38: 13:102861670-102861671 |
9 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) |
DEL |
Pathogenic
|
16574 |
rs786200919 |
GRCh37: 13:103514613-103514616 GRCh38: 13:102862263-102862266 |
10 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) |
SNV |
Pathogenic
|
16570 |
rs121434572 |
GRCh37: 13:103513971-103513971 GRCh38: 13:102861621-102861621 |
11 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) |
DEL |
Pathogenic
|
1696064 |
|
GRCh37: 13:103518035-103518035 GRCh38: 13:102865685-102865685 |
12 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) |
SNV |
Pathogenic
|
16571 |
rs121434573 |
GRCh37: 13:103508460-103508460 GRCh38: 13:102856110-102856110 |
13 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) |
SNV |
Pathogenic
|
16572 |
rs121434574 |
GRCh37: 13:103504594-103504594 GRCh38: 13:102852244-102852244 |
14 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) |
SNV |
Likely Pathogenic
|
208576 |
rs9514067 |
GRCh37: 13:103527930-103527930 GRCh38: 13:102875580-102875580 |
15 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) |
SNV |
Likely Pathogenic
|
522358 |
rs1244074570 |
GRCh37: 13:103519015-103519015 GRCh38: 13:102866665-102866665 |
16 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) |
SNV |
Likely Pathogenic
|
1252023 |
|
GRCh37: 13:103519054-103519054 GRCh38: 13:102866704-102866704 |
17 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310941 |
rs376411022 |
GRCh37: 13:103528120-103528120 GRCh38: 13:102875770-102875770 |
18 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
134169 |
rs2227871 |
GRCh37: 13:103528048-103528048 GRCh38: 13:102875698-102875698 |
19 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
134185 |
rs61749896 |
GRCh37: 13:103513972-103513972 GRCh38: 13:102861622-102861622 |
20 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310924 |
rs200615101 |
GRCh37: 13:103515140-103515140 GRCh38: 13:102862790-102862790 |
21 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
310918 |
rs150791877 |
GRCh37: 13:103514609-103514609 GRCh38: 13:102862259-102862259 |
22 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
134195 |
rs4150319 |
GRCh37: 13:103515288-103515288 GRCh38: 13:102862938-102862938 |
23 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
310936 |
rs146344855 |
GRCh37: 13:103524687-103524687 GRCh38: 13:102872337-102872337 |
24 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) |
SNV |
Uncertain Significance
|
802999 |
rs1595383704 |
GRCh37: 13:103515286-103515286 GRCh38: 13:102862936-102862936 |
25 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) |
SNV |
Uncertain Significance
|
134193 |
rs143667470 |
GRCh37: 13:103514758-103514758 GRCh38: 13:102862408-102862408 |
26 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) |
SNV |
Uncertain Significance
|
310942 |
rs761650522 |
GRCh37: 13:103528178-103528178 GRCh38: 13:102875828-102875828 |
27 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.664A>G (p.Met222Val) |
SNV |
Uncertain Significance
|
882639 |
rs1391956862 |
GRCh37: 13:103510760-103510760 GRCh38: 13:102858410-102858410 |
28 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) |
SNV |
Uncertain Significance
|
883414 |
rs2307491 |
GRCh37: 13:103514431-103514431 GRCh38: 13:102862081-102862081 |
29 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) |
SNV |
Uncertain Significance
|
883415 |
rs142927249 |
GRCh37: 13:103514529-103514529 GRCh38: 13:102862179-102862179 |
30 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) |
SNV |
Uncertain Significance
|
997612 |
rs201911663 |
GRCh37: 13:103528246-103528246 GRCh38: 13:102875896-102875896 |
31 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) |
SNV |
Uncertain Significance
|
310925 |
rs765554006 |
GRCh37: 13:103515416-103515416 GRCh38: 13:102863066-102863066 |
32 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2190T>C (p.Asp730=) |
SNV |
Uncertain Significance
|
310928 |
rs148103512 |
GRCh37: 13:103518252-103518252 GRCh38: 13:102865902-102865902 |
33 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2534-10T>G |
SNV |
Uncertain Significance
|
310933 |
rs199562917 |
GRCh37: 13:103520453-103520453 GRCh38: 13:102868103-102868103 |
34 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) |
SNV |
Uncertain Significance
|
134175 |
rs368550097 |
GRCh37: 13:103527687-103527687 GRCh38: 13:102875337-102875337 |
35 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) |
SNV |
Uncertain Significance
|
310921 |
rs146853061 |
GRCh37: 13:103514786-103514786 GRCh38: 13:102862436-102862436 |
36 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) |
SNV |
Uncertain Significance
|
310939 |
rs886049942 |
GRCh37: 13:103527695-103527695 GRCh38: 13:102875345-102875345 |
37 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.380+3A>T |
SNV |
Uncertain Significance
|
1705488 |
|
GRCh37: 13:103506225-103506225 GRCh38: 13:102853875-102853875 |
38 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) |
SNV |
Uncertain Significance
|
134159 |
rs34291397 |
GRCh37: 13:103498672-103498672 GRCh38: 13:102846322-102846322 |
39 |
ERCC5, BIVM-ERCC5 |
NM_000123.3(ERCC5):c.-241G>C |
SNV |
Uncertain Significance
|
310905 |
rs4150249 |
GRCh37: 13:103498376-103498376 GRCh38: 13:102846026-102846026 |
40 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) |
SNV |
Uncertain Significance
|
310919 |
rs764744058 |
GRCh37: 13:103514630-103514630 GRCh38: 13:102862280-102862280 |
41 |
ERCC5, BIVM-ERCC5 |
NM_000123.3(ERCC5):c.-380C>T |
SNV |
Uncertain Significance
|
882587 |
rs1331645993 |
GRCh37: 13:103498237-103498237 GRCh38: 13:102845887-102845887 |
42 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) |
SNV |
Uncertain Significance
|
744000 |
rs773823921 |
GRCh37: 13:103518692-103518692 GRCh38: 13:102866342-102866342 |
43 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr) |
SNV |
Uncertain Significance
|
134174 |
rs55798001 |
GRCh37: 13:103528119-103528119 GRCh38: 13:102875769-102875769 |
44 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) |
SNV |
Uncertain Significance
|
719027 |
rs148782406 |
GRCh37: 13:103528184-103528184 GRCh38: 13:102875834-102875834 |
45 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) |
SNV |
Uncertain Significance
|
727862 |
rs201274165 |
GRCh37: 13:103524669-103524669 GRCh38: 13:102872319-102872319 |
46 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) |
SNV |
Uncertain Significance
|
134179 |
rs141369732 |
GRCh37: 13:103510688-103510688 GRCh38: 13:102858338-102858338 |
47 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) |
SNV |
Uncertain Significance
|
740330 |
rs780506840 |
GRCh37: 13:103506136-103506136 GRCh38: 13:102853786-102853786 |
48 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) |
SNV |
Uncertain Significance
|
310922 |
rs560626350 |
GRCh37: 13:103514959-103514959 GRCh38: 13:102862609-102862609 |
49 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) |
SNV |
Uncertain Significance
|
134171 |
rs144208043 |
GRCh37: 13:103527798-103527798 GRCh38: 13:102875448-102875448 |
50 |
BIVM-ERCC5, ERCC5 |
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) |
SNV |
Uncertain Significance
|
881013 |
rs1266019512 |
GRCh37: 13:103498648-103498648 GRCh38: 13:102846298-102846298 |