1 |
NECTIN1 |
NM_002855.5(NECTIN1):c.556del (p.Glu186fs) |
DEL |
Pathogenic
|
8970 |
rs876657374 |
GRCh37: 11:119548442-119548442 GRCh38: 11:119677732-119677732 |
2 |
NECTIN1 |
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) |
DUP |
Pathogenic
|
8971 |
rs878853255 |
GRCh37: 11:119545902-119545903 GRCh38: 11:119675192-119675193 |
3 |
NECTIN1 |
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) |
SNV |
Pathogenic
Pathogenic
|
8969 |
rs104894281 |
GRCh37: 11:119548444-119548444 GRCh38: 11:119677734-119677734 |
4 |
NECTIN1 |
NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter) |
SNV |
Likely Pathogenic
|
984386 |
|
GRCh37: 11:119548526-119548526 GRCh38: 11:119677816-119677816 |
5 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*2969A>T |
SNV |
Uncertain Significance
|
880100 |
rs768510314 |
GRCh37: 11:119532488-119532488 GRCh38: 11:119661778-119661778 |
6 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*2902A>C |
SNV |
Uncertain Significance
|
880101 |
rs372246353 |
GRCh37: 11:119532555-119532555 GRCh38: 11:119661845-119661845 |
7 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1382T>C |
SNV |
Uncertain Significance
|
880142 |
rs545288869 |
GRCh37: 11:119534075-119534075 GRCh38: 11:119663365-119663365 |
8 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1368G>A |
SNV |
Uncertain Significance
|
880143 |
rs576817361 |
GRCh37: 11:119534089-119534089 GRCh38: 11:119663379-119663379 |
9 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1337T>C |
SNV |
Uncertain Significance
|
880144 |
rs114244021 |
GRCh37: 11:119534120-119534120 GRCh38: 11:119663410-119663410 |
10 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1330G>C |
SNV |
Uncertain Significance
|
880145 |
rs891490437 |
GRCh37: 11:119534127-119534127 GRCh38: 11:119663417-119663417 |
11 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*532T>C |
SNV |
Uncertain Significance
|
880189 |
rs138678304 |
GRCh37: 11:119534925-119534925 GRCh38: 11:119664215-119664215 |
12 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*521G>C |
SNV |
Uncertain Significance
|
880190 |
rs998507978 |
GRCh37: 11:119534936-119534936 GRCh38: 11:119664226-119664226 |
13 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*481C>T |
SNV |
Uncertain Significance
|
880191 |
rs148928883 |
GRCh37: 11:119534976-119534976 GRCh38: 11:119664266-119664266 |
14 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*438C>T |
SNV |
Uncertain Significance
|
880192 |
rs760416313 |
GRCh37: 11:119535019-119535019 GRCh38: 11:119664309-119664309 |
15 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*352C>T |
SNV |
Uncertain Significance
|
880193 |
rs59681945 |
GRCh37: 11:119535105-119535105 GRCh38: 11:119664395-119664395 |
16 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*348C>T |
SNV |
Uncertain Significance
|
880194 |
rs748100409 |
GRCh37: 11:119535109-119535109 GRCh38: 11:119664399-119664399 |
17 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*315T>C |
SNV |
Uncertain Significance
|
880195 |
rs565357962 |
GRCh37: 11:119535142-119535142 GRCh38: 11:119664432-119664432 |
18 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*296T>C |
SNV |
Uncertain Significance
|
880196 |
rs769907939 |
GRCh37: 11:119535161-119535161 GRCh38: 11:119664451-119664451 |
19 |
NECTIN1 |
NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) |
SNV |
Uncertain Significance
|
880237 |
rs200513188 |
GRCh37: 11:119548316-119548316 GRCh38: 11:119677606-119677606 |
20 |
NECTIN1 |
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) |
SNV |
Uncertain Significance
|
880239 |
rs142863092 |
GRCh37: 11:119548369-119548369 GRCh38: 11:119677659-119677659 |
21 |
NECTIN1 |
NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) |
SNV |
Uncertain Significance
|
880240 |
rs149093951 |
GRCh37: 11:119548496-119548496 GRCh38: 11:119677786-119677786 |
22 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=) |
SNV |
Uncertain Significance
|
879021 |
rs1864734746 |
GRCh37: 11:119535631-119535631 GRCh38: 11:119664921-119664921 |
23 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser) |
SNV |
Uncertain Significance
|
879022 |
rs539461545 |
GRCh37: 11:119535678-119535678 GRCh38: 11:119664968-119664968 |
24 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=) |
SNV |
Uncertain Significance
|
879023 |
rs188936128 |
GRCh37: 11:119535817-119535817 GRCh38: 11:119665107-119665107 |
25 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1182C>T (p.His394=) |
SNV |
Uncertain Significance
|
879024 |
rs761931104 |
GRCh37: 11:119535829-119535829 GRCh38: 11:119665119-119665119 |
26 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met) |
SNV |
Uncertain Significance
|
879025 |
rs758801522 |
GRCh37: 11:119535933-119535933 GRCh38: 11:119665223-119665223 |
27 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln) |
SNV |
Uncertain Significance
|
879026 |
rs375956459 |
GRCh37: 11:119535992-119535992 GRCh38: 11:119665282-119665282 |
28 |
NECTIN1 |
NM_002855.5(NECTIN1):c.900C>G (p.Leu300=) |
SNV |
Uncertain Significance
|
879027 |
rs1294282077 |
GRCh37: 11:119545972-119545972 GRCh38: 11:119675262-119675262 |
29 |
NECTIN1 |
NM_002855.5(NECTIN1):c.-151A>C |
SNV |
Uncertain Significance
|
879072 |
rs900655328 |
GRCh37: 11:119599414-119599414 GRCh38: 11:119728704-119728704 |
30 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*3136G>A |
SNV |
Uncertain Significance
|
880096 |
rs76084281 |
GRCh37: 11:119532321-119532321 GRCh38: 11:119661611-119661611 |
31 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*3087C>G |
SNV |
Uncertain Significance
|
880097 |
rs575574028 |
GRCh37: 11:119532370-119532370 GRCh38: 11:119661660-119661660 |
32 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*3032T>C |
SNV |
Uncertain Significance
|
880098 |
rs774879984 |
GRCh37: 11:119532425-119532425 GRCh38: 11:119661715-119661715 |
33 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*2374C>T |
SNV |
Uncertain Significance
|
878917 |
rs753029528 |
GRCh37: 11:119533083-119533083 GRCh38: 11:119662373-119662373 |
34 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*2355C>T |
SNV |
Uncertain Significance
|
878918 |
rs1456398872 |
GRCh37: 11:119533102-119533102 GRCh38: 11:119662392-119662392 |
35 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*607C>A |
SNV |
Uncertain Significance
|
878969 |
rs187441699 |
GRCh37: 11:119534850-119534850 GRCh38: 11:119664140-119664140 |
36 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*554G>A |
SNV |
Uncertain Significance
|
878970 |
rs369160682 |
GRCh37: 11:119534903-119534903 GRCh38: 11:119664193-119664193 |
37 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*2882G>A |
SNV |
Uncertain Significance
|
880103 |
rs1200712188 |
GRCh37: 11:119532575-119532575 GRCh38: 11:119661865-119661865 |
38 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1555C>T |
SNV |
Uncertain Significance
|
880138 |
rs1023855669 |
GRCh37: 11:119533902-119533902 GRCh38: 11:119663192-119663192 |
39 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1554G>A |
SNV |
Uncertain Significance
|
880139 |
rs77555237 |
GRCh37: 11:119533903-119533903 GRCh38: 11:119663193-119663193 |
40 |
NECTIN1 |
NM_002855.5(NECTIN1):c.*1422G>A |
SNV |
Uncertain Significance
|
880140 |
rs973497387 |
GRCh37: 11:119534035-119534035 GRCh38: 11:119663325-119663325 |
41 |
NECTIN1 |
NM_002855.5(NECTIN1):c.431-4G>A |
SNV |
Uncertain Significance
|
746878 |
rs375284374 |
GRCh37: 11:119548571-119548571 GRCh38: 11:119677861-119677861 |
42 |
NECTIN1 |
NM_002855.5(NECTIN1):c.431-5C>T |
SNV |
Uncertain Significance
|
793005 |
rs559278757 |
GRCh37: 11:119548572-119548572 GRCh38: 11:119677862-119677862 |
43 |
NECTIN1 |
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) |
SNV |
Uncertain Significance
|
748554 |
rs142753103 |
GRCh37: 11:119549132-119549132 GRCh38: 11:119678422-119678422 |
44 |
NECTIN1 |
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) |
SNV |
Uncertain Significance
|
719352 |
rs146919951 |
GRCh37: 11:119549180-119549180 GRCh38: 11:119678470-119678470 |
45 |
NECTIN1 |
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) |
SNV |
Uncertain Significance
|
716975 |
rs7131391 |
GRCh37: 11:119549291-119549291 GRCh38: 11:119678581-119678581 |
46 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=) |
SNV |
Uncertain Significance
|
721451 |
rs146113849 |
GRCh37: 11:119535463-119535463 GRCh38: 11:119664753-119664753 |
47 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser) |
SNV |
Uncertain Significance
|
878433 |
rs147334676 |
GRCh37: 11:119535573-119535573 GRCh38: 11:119664863-119664863 |
48 |
NECTIN1 |
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) |
SNV |
Uncertain Significance
|
786830 |
rs137991779 |
GRCh37: 11:119549425-119549425 GRCh38: 11:119678715-119678715 |
49 |
NECTIN1 |
NM_002855.5(NECTIN1):c.79+4A>G |
SNV |
Uncertain Significance
|
731361 |
rs542760632 |
GRCh37: 11:119599181-119599181 GRCh38: 11:119728471-119728471 |
50 |
NECTIN1 |
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=) |
SNV |
Uncertain Significance
|
716974 |
rs116441631 |
GRCh37: 11:119535664-119535664 GRCh38: 11:119664954-119664954 |