1 |
ABCG8 |
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) |
SNV |
Pathogenic |
4967 |
rs137852987 |
2:44099233-44099233 |
2:43872094-43872094 |
2 |
ABCG8 |
NM_022437.3(ABCG8):c.547del (p.Gln183fs) |
deletion |
Pathogenic |
4971 |
rs387906323 |
2:44078945-44078945 |
2:43851806-43851806 |
3 |
ABCG8 |
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) |
SNV |
Pathogenic |
4972 |
rs137852991 |
2:44100948-44100948 |
2:43873809-43873809 |
4 |
ABCG8 |
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) |
SNV |
Pathogenic |
4973 |
rs137852992 |
2:44104730-44104730 |
2:43877591-43877591 |
5 |
ABCG8 |
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) |
SNV |
Pathogenic |
4974 |
rs137852993 |
2:44079622-44079622 |
2:43852483-43852483 |
6 |
ABCG8 |
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) |
SNV |
Pathogenic |
39520 |
rs137854891 |
2:44073448-44073448 |
2:43846309-43846309 |
7 |
ABCG8 |
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) |
SNV |
Pathogenic/Likely pathogenic |
4968 |
rs137852988 |
2:44102516-44102516 |
2:43875377-43875377 |
8 |
ABCG8 |
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) |
SNV |
Likely pathogenic |
4969 |
rs137852989 |
2:44105004-44105004 |
2:43877865-43877865 |
9 |
ABCG8 |
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) |
SNV |
risk factor |
4975 |
rs11887534 |
2:44066247-44066247 |
2:43839108-43839108 |
10 |
ABCG8 |
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) |
SNV |
Conflicting interpretations of pathogenicity |
715758 |
|
2:44101100-44101100 |
2:43873961-43873961 |
11 |
ABCG5 |
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) |
SNV |
Conflicting interpretations of pathogenicity |
497594 |
rs146801512 |
2:44051125-44051125 |
2:43823986-43823986 |
12 |
ABCG8 |
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) |
SNV |
Conflicting interpretations of pathogenicity |
497595 |
rs148058949 |
2:44079507-44079507 |
2:43852368-43852368 |
13 |
ABCG8 |
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) |
SNV |
Conflicting interpretations of pathogenicity |
499929 |
rs147194762 |
2:44100999-44100999 |
2:43873860-43873860 |
14 |
ABCG5 |
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) |
SNV |
Conflicting interpretations of pathogenicity |
502765 |
rs140899003 |
2:44047136-44047136 |
2:43819997-43819997 |
15 |
ABCG5 |
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) |
SNV |
Conflicting interpretations of pathogenicity |
593731 |
rs150716811 |
2:44040405-44040405 |
2:43813266-43813266 |
16 |
ABCG8 |
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) |
SNV |
Conflicting interpretations of pathogenicity |
595310 |
rs147582834 |
2:44104782-44104782 |
2:43877643-43877643 |
17 |
ABCG8 |
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) |
SNV |
Conflicting interpretations of pathogenicity |
281519 |
rs140690030 |
2:44102441-44102441 |
2:43875302-43875302 |
18 |
ABCG5 |
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) |
SNV |
Conflicting interpretations of pathogenicity |
283529 |
rs56204478 |
2:44065739-44065739 |
2:43838600-43838600 |
19 |
ABCG5 |
NM_022436.3(ABCG5):c.696C>T (p.Val232=) |
SNV |
Conflicting interpretations of pathogenicity |
283812 |
rs72796720 |
2:44053599-44053599 |
2:43826460-43826460 |
20 |
ABCG5 |
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) |
SNV |
Conflicting interpretations of pathogenicity |
284636 |
rs141828689 |
2:44055163-44055163 |
2:43828024-43828024 |
21 |
ABCG8 |
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) |
SNV |
Conflicting interpretations of pathogenicity |
198901 |
rs144200355 |
2:44099435-44099435 |
2:43872296-43872296 |
22 |
ABCG8 |
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) |
SNV |
Conflicting interpretations of pathogenicity |
287003 |
rs140778634 |
2:44099244-44099244 |
2:43872105-43872105 |
23 |
ABCG8 |
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) |
SNV |
Conflicting interpretations of pathogenicity |
288467 |
rs113005049 |
2:44104954-44104954 |
2:43877815-43877815 |
24 |
ABCG5 |
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) |
SNV |
Conflicting interpretations of pathogenicity |
290953 |
rs144973796 |
2:44041634-44041634 |
2:43814495-43814495 |
25 |
ABCG8 |
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) |
SNV |
Conflicting interpretations of pathogenicity |
289084 |
rs147991100 |
2:44104971-44104971 |
2:43877832-43877832 |
26 |
ABCG5 |
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) |
SNV |
Conflicting interpretations of pathogenicity |
289815 |
rs145164937 |
2:44059195-44059195 |
2:43832056-43832056 |
27 |
ABCG8 |
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) |
SNV |
Conflicting interpretations of pathogenicity |
336091 |
rs139677898 |
2:44104728-44104728 |
2:43877589-43877589 |
28 |
ABCG8 |
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) |
SNV |
Conflicting interpretations of pathogenicity |
336075 |
rs554680915 |
2:44099267-44099267 |
2:43872128-43872128 |
29 |
ABCG8 |
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) |
SNV |
Conflicting interpretations of pathogenicity |
336076 |
rs139902223 |
2:44099404-44099404 |
2:43872265-43872265 |
30 |
ABCG5 |
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) |
SNV |
Conflicting interpretations of pathogenicity |
336039 |
rs141016088 |
2:44050034-44050034 |
2:43822895-43822895 |
31 |
ABCG5 |
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) |
SNV |
Uncertain significance |
336041 |
rs771802286 |
2:44051196-44051196 |
2:43824057-43824057 |
32 |
ABCG5 |
NM_022436.3(ABCG5):c.1155A>G (p.Ala385=) |
SNV |
Uncertain significance |
336043 |
rs886056028 |
2:44051221-44051221 |
2:43824082-43824082 |
33 |
ABCG5 |
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) |
SNV |
Uncertain significance |
336055 |
rs149599171 |
2:44065056-44065056 |
2:43837917-43837917 |
34 |
ABCG8 |
NM_022437.3(ABCG8):c.1203G>A (p.Thr401=) |
SNV |
Uncertain significance |
336077 |
rs886056033 |
2:44099437-44099437 |
2:43872298-43872298 |
35 |
ABCG5 |
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) |
SNV |
Uncertain significance |
336037 |
rs376969021 |
2:44047134-44047134 |
2:43819995-43819995 |
36 |
ABCG5 |
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) |
SNV |
Uncertain significance |
336038 |
rs143402711 |
2:44049988-44049988 |
2:43822849-43822849 |
37 |
ABCG8 |
NM_022437.3(ABCG8):c.-53C>G |
SNV |
Uncertain significance |
336059 |
rs886056032 |
2:44066140-44066140 |
2:43839001-43839001 |
38 |
ABCG8 |
NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala) |
SNV |
Uncertain significance |
336065 |
rs373610655 |
2:44073348-44073348 |
2:43846209-43846209 |
39 |
ABCG8 |
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) |
SNV |
Uncertain significance |
336067 |
rs372921526 |
2:44073403-44073403 |
2:43846264-43846264 |
40 |
ABCG8 |
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) |
SNV |
Uncertain significance |
336071 |
rs202198142 |
2:44079573-44079573 |
2:43852434-43852434 |
41 |
ABCG8 |
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) |
SNV |
Uncertain significance |
336084 |
rs558635043 |
2:44102364-44102364 |
2:43875225-43875225 |
42 |
ABCG8 |
NM_022437.3(ABCG8):c.1675G>T (p.Ala559Ser) |
SNV |
Uncertain significance |
336086 |
rs886056036 |
2:44102471-44102471 |
2:43875332-43875332 |
43 |
ABCG8 |
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His) |
SNV |
Uncertain significance |
336074 |
rs142346631 |
2:44099211-44099211 |
2:43872072-43872072 |
44 |
ABCG8 |
NM_022437.3(ABCG8):c.1489-15G>A |
SNV |
Uncertain significance |
336082 |
rs886056035 |
2:44102270-44102270 |
2:43875131-43875131 |
45 |
ABCG8 |
NM_022437.3(ABCG8):c.*141T>G |
SNV |
Uncertain significance |
336094 |
rs886056037 |
2:44105193-44105193 |
2:43878054-43878054 |
46 |
ABCG5 |
NM_022436.3(ABCG5):c.*592G>A |
SNV |
Uncertain significance |
336026 |
rs151005348 |
2:44039663-44039663 |
2:43812524-43812524 |
47 |
ABCG5 |
NM_022436.3(ABCG5):c.*511C>A |
SNV |
Uncertain significance |
336028 |
rs547604287 |
2:44039744-44039744 |
2:43812605-43812605 |
48 |
ABCG5 |
NM_022436.3(ABCG5):c.610G>A (p.Ala204Thr) |
SNV |
Uncertain significance |
336051 |
rs765266332 |
2:44055146-44055146 |
2:43828007-43828007 |
49 |
ABCG5 |
NM_022436.3(ABCG5):c.570G>A (p.Leu190=) |
SNV |
Uncertain significance |
336052 |
rs886056030 |
2:44055186-44055186 |
2:43828047-43828047 |
50 |
ABCG8 |
NM_022437.3(ABCG8):c.36G>A (p.Pro12=) |
SNV |
Uncertain significance |
336061 |
rs368998235 |
2:44066228-44066228 |
2:43839089-43839089 |