1 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3811del (p.Asp1271fs)
|
deletion |
Pathogenic |
rs1060502664
|
19:7626105-7626105 |
19:7561219-7561219 |
2 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2291dup (p.Thr765fs)
|
duplication |
Pathogenic |
rs1555749683
|
19:7619098-7619098 |
19:7554212-7554212 |
3 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3034A> G (p.Met1012Val)
|
single nucleotide variant |
Pathogenic |
rs121434415
|
19:7621393-7621393 |
19:7556507-7556507 |
4 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2669G> A (p.Arg890His)
|
single nucleotide variant |
Pathogenic |
rs121434416
|
19:7619927-7619927 |
19:7555041-7555041 |
5 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2944_2947dup (p.Arg983fs)
|
duplication |
Pathogenic |
rs606231167
|
19:7620614-7620617 |
19:7555728-7555731 |
6 |
PNPLA6
|
NM_006702.5(PNPLA6): c.643G> A (p.Val215Ile)
|
single nucleotide variant |
Pathogenic |
rs587777184
|
19:7605561-7605561 |
19:7540675-7540675 |
7 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2375G> A (p.Gly792Glu)
|
single nucleotide variant |
Pathogenic |
rs587777185
|
19:7619464-7619464 |
19:7554578-7554578 |
8 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3389G> A (p.Trp1130Ter)
|
single nucleotide variant |
Pathogenic |
rs1555751597
|
19:7623841-7623841 |
19:7558955-7558955 |
9 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2369del (p.Leu790fs)
|
deletion |
Pathogenic |
|
19:7619458-7619458 |
19:7554572-7554572 |
10 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3186del (p.Arg1063fs)
|
deletion |
Pathogenic |
|
19:7622073-7622073 |
19:7557187-7557187 |
11 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3241G> A (p.Gly1081Arg)
|
single nucleotide variant |
Likely pathogenic |
rs773955314
|
19:7622128-7622128 |
19:7557242-7557242 |
12 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3702+1G> A
|
single nucleotide variant |
Likely pathogenic |
rs1490826010
|
19:7625651-7625651 |
19:7560765-7560765 |
13 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1563C> T (p.Asp521=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761103593
|
19:7614864-7614864 |
19:7549978-7549978 |
14 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3435T> C (p.Val1145=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35770729
|
19:7623887-7623887 |
19:7559001-7559001 |
15 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3404G> A (p.Arg1135Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1057517802
|
19:7623856-7623856 |
19:7558970-7558970 |
16 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3964G> A (p.Gly1322Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145178162
|
19:7626428-7626428 |
19:7561542-7561542 |
17 |
PNPLA6
|
NM_006702.5(PNPLA6): c.54A> C (p.Gly18=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140825810
|
19:7600845-7600845 |
19:7535959-7535959 |
18 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2245G> A (p.Val749Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145988230
|
19:7618859-7618859 |
19:7553973-7553973 |
19 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3381C> T (p.Ser1127=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138837774
|
19:7623833-7623833 |
19:7558947-7558947 |
20 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3489G> A (p.Gln1163=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112133109
|
19:7623941-7623941 |
19:7559055-7559055 |
21 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3610G> A (p.Ala1204Thr)
|
single nucleotide variant |
Uncertain significance |
rs755872517
|
19:7625558-7625558 |
19:7560672-7560672 |
22 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3754C> T (p.Arg1252Trp)
|
single nucleotide variant |
Uncertain significance |
rs369159451
|
19:7625951-7625951 |
19:7561065-7561065 |
23 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3865G> T (p.Gly1289Trp)
|
single nucleotide variant |
Uncertain significance |
rs1555752329
|
19:7626159-7626159 |
19:7561273-7561273 |
24 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2374G> C (p.Gly792Arg)
|
single nucleotide variant |
Uncertain significance |
rs1244234383
|
19:7619463-7619463 |
19:7554577-7554577 |
25 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3770C> T (p.Thr1257Met)
|
single nucleotide variant |
Uncertain significance |
rs758549829
|
19:7625967-7625967 |
19:7561081-7561081 |
26 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1375G> A (p.Ala459Thr)
|
single nucleotide variant |
Uncertain significance |
rs375397452
|
19:7607776-7607776 |
19:7542890-7542890 |
27 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3200C> T (p.Thr1067Met)
|
single nucleotide variant |
Uncertain significance |
|
19:7622087-7622087 |
19:7557201-7557201 |
28 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1106G> T (p.Arg369Leu)
|
single nucleotide variant |
Uncertain significance |
|
19:7606924-7606924 |
19:7542038-7542038 |
29 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2690del (p.Ser897fs)
|
deletion |
Uncertain significance |
|
19:7619947-7619948 |
19:7555062-7555062 |
30 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3598C> G (p.Gln1200Glu)
|
single nucleotide variant |
Uncertain significance |
|
19:7625546-7625546 |
19:7560660-7560660 |
31 |
PNPLA6
|
NM_006702.5(PNPLA6): c.905G> T (p.Arg302Leu)
|
single nucleotide variant |
Uncertain significance |
|
19:7606424-7606424 |
19:7541538-7541538 |
32 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1214C> A (p.Ala405Asp)
|
single nucleotide variant |
Uncertain significance |
|
19:7607525-7607525 |
19:7542639-7542639 |
33 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2031G> T (p.Glu677Asp)
|
single nucleotide variant |
Uncertain significance |
|
19:7615957-7615957 |
19:7551071-7551071 |
34 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2810G> A (p.Gly937Glu)
|
single nucleotide variant |
Uncertain significance |
|
19:7620241-7620241 |
19:7555355-7555355 |
35 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3325A> G (p.Ile1109Val)
|
single nucleotide variant |
Uncertain significance |
|
19:7623777-7623777 |
19:7558891-7558891 |
36 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3403C> T (p.Arg1135Trp)
|
single nucleotide variant |
Uncertain significance |
|
19:7623855-7623855 |
19:7558969-7558969 |
37 |
PNPLA6
|
NM_006702.5(PNPLA6): c.678+3G> A
|
single nucleotide variant |
Uncertain significance |
|
19:7605599-7605599 |
19:7540713-7540713 |
38 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1869T> A (p.Asn623Lys)
|
single nucleotide variant |
Uncertain significance |
|
19:7615442-7615442 |
19:7550556-7550556 |
39 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3096+3A> G
|
single nucleotide variant |
Uncertain significance |
|
19:7621458-7621458 |
19:7556572-7556572 |
40 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2825G> C (p.Gly942Ala)
|
single nucleotide variant |
Uncertain significance |
|
19:7620495-7620495 |
19:7555609-7555609 |
41 |
PNPLA6
|
NM_006702.4(PNPLA6): c.297-4_297-2delCCA
|
deletion |
Uncertain significance |
|
19:7604800-7604802 |
19:7539914-7539916 |
42 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1246-7C> G
|
single nucleotide variant |
Uncertain significance |
|
19:7607640-7607640 |
19:7542754-7542754 |
43 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1313C> T (p.Ser438Leu)
|
single nucleotide variant |
Uncertain significance |
|
19:7607714-7607714 |
19:7542828-7542828 |
44 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1561G> A (p.Asp521Asn)
|
single nucleotide variant |
Uncertain significance |
|
19:7614862-7614862 |
19:7549976-7549976 |
45 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1372G> C (p.Glu458Gln)
|
single nucleotide variant |
Uncertain significance |
rs372128647
|
19:7607773-7607773 |
19:7542887-7542887 |
46 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1153C> T (p.Arg385Cys)
|
single nucleotide variant |
Uncertain significance |
rs763561590
|
19:7607464-7607464 |
19:7542578-7542578 |
47 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3654G> T (p.Met1218Ile)
|
single nucleotide variant |
Uncertain significance |
rs878854905
|
19:7625602-7625602 |
19:7560716-7560716 |
48 |
PNPLA6
|
NM_006702.5(PNPLA6): c.2T> C (p.Met1Thr)
|
single nucleotide variant |
Uncertain significance |
rs765249233
|
19:7600438-7600438 |
19:7535552-7535552 |
49 |
PNPLA6
|
NM_006702.5(PNPLA6): c.1405C> T (p.Arg469Trp)
|
single nucleotide variant |
Uncertain significance |
rs777484615
|
19:7607806-7607806 |
19:7542920-7542920 |
50 |
PNPLA6
|
NM_006702.5(PNPLA6): c.3230A> G (p.Asp1077Gly)
|
single nucleotide variant |
Uncertain significance |
rs762434726
|
19:7622117-7622117 |
19:7557231-7557231 |