1 |
DHH |
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) |
SNV |
Pathogenic
|
5011 |
rs111033589 |
GRCh37: 12:49484991-49484991 GRCh38: 12:49091208-49091208 |
2 |
DHH |
NM_021044.4(DHH):c.1086del (p.Leu363fs) |
DEL |
Pathogenic
|
5012 |
rs1592184934 |
GRCh37: 12:49483747-49483747 GRCh38: 12:49089964-49089964 |
3 |
DHH |
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) |
SNV |
Pathogenic
|
561187 |
rs1565573786 |
GRCh37: 12:49484948-49484948 GRCh38: 12:49091165-49091165 |
4 |
DHH |
NM_021044.4(DHH):c.1011del (p.Asn337fs) |
DEL |
Pathogenic
|
561188 |
rs1565572949 |
GRCh37: 12:49483822-49483822 GRCh38: 12:49090039-49090039 |
5 |
DHH |
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) |
SNV |
Pathogenic
|
561189 |
rs1565573786 |
GRCh37: 12:49484948-49484948 GRCh38: 12:49091165-49091165 |
6 |
DHH |
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) |
SNV |
Pathogenic
|
1685695 |
|
GRCh37: 12:49483829-49483829 GRCh38: 12:49090046-49090046 |
7 |
DHH |
NM_021044.4(DHH):c.634G>A (p.Glu212Lys) |
SNV |
Likely Pathogenic
|
561190 |
rs1480612338 |
GRCh37: 12:49484199-49484199 GRCh38: 12:49090416-49090416 |
8 |
DHH |
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) |
SNV |
Likely Pathogenic
|
265768 |
rs867798393 |
GRCh37: 12:49483806-49483806 GRCh38: 12:49090023-49090023 |
9 |
DHH |
NM_021044.4(DHH):c.1134T>A (p.Thr378=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
309098 |
rs144444357 |
GRCh37: 12:49483699-49483699 GRCh38: 12:49089916-49089916 |
10 |
DHH |
NM_021044.4(DHH):c.228C>T (p.Asp76=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
772189 |
rs201597166 |
GRCh37: 12:49488068-49488068 GRCh38: 12:49094285-49094285 |
11 |
DHH |
NM_021044.4(DHH):c.980C>A (p.Pro327Gln) |
SNV |
Uncertain Significance
|
933985 |
rs1939268481 |
GRCh37: 12:49483853-49483853 GRCh38: 12:49090070-49090070 |
12 |
DHH |
NM_021044.4(DHH):c.822T>G (p.Phe274Leu) |
SNV |
Uncertain Significance
|
948136 |
rs1242767279 |
GRCh37: 12:49484011-49484011 GRCh38: 12:49090228-49090228 |
13 |
overlap with 2 genes |
GRCh37/hg19 16q24.3(chr16:89845820-89913583) |
CN GAIN |
Uncertain Significance
|
1703657 |
|
GRCh37: 16:89845820-89913583 GRCh38: |
14 |
DHH |
NM_021044.4(DHH):c.-53G>A |
SNV |
Uncertain Significance
|
883143 |
rs913605931 |
GRCh37: 12:49488348-49488348 GRCh38: 12:49094565-49094565 |
15 |
DHH |
NM_021044.4(DHH):c.135C>T (p.Tyr45=) |
SNV |
Uncertain Significance
|
883142 |
rs765506943 |
GRCh37: 12:49488161-49488161 GRCh38: 12:49094378-49094378 |
16 |
DHH |
NM_021044.4(DHH):c.217C>G (p.Arg73Gly) |
SNV |
Uncertain Significance
|
883141 |
rs754182591 |
GRCh37: 12:49488079-49488079 GRCh38: 12:49094296-49094296 |
17 |
DHH |
NM_021044.4(DHH):c.305G>A (p.Arg102His) |
SNV |
Uncertain Significance
|
883140 |
rs149972274 |
GRCh37: 12:49485171-49485171 GRCh38: 12:49091388-49091388 |
18 |
DHH |
NM_021044.4(DHH):c.234G>A (p.Val78=) |
SNV |
Uncertain Significance
|
309105 |
rs370468314 |
GRCh37: 12:49488062-49488062 GRCh38: 12:49094279-49094279 |
19 |
DHH |
NM_021044.4(DHH):c.860C>A (p.Ala287Glu) |
SNV |
Uncertain Significance
|
466305 |
rs1033987082 |
GRCh37: 12:49483973-49483973 GRCh38: 12:49090190-49090190 |
20 |
DHH |
NM_021044.4(DHH):c.80G>A (p.Arg27Gln) |
SNV |
Uncertain Significance
|
466304 |
rs779682957 |
GRCh37: 12:49488216-49488216 GRCh38: 12:49094433-49094433 |
21 |
DHH |
NM_021044.4(DHH):c.726C>T (p.Phe242=) |
SNV |
Uncertain Significance
|
309100 |
rs886049491 |
GRCh37: 12:49484107-49484107 GRCh38: 12:49090324-49090324 |
22 |
DHH |
NM_021044.4(DHH):c.-256C>G |
SNV |
Uncertain Significance
|
309109 |
rs563591024 |
GRCh37: 12:49488551-49488551 GRCh38: 12:49094768-49094768 |
23 |
DHH |
NM_021044.4(DHH):c.*159G>T |
SNV |
Uncertain Significance
|
309095 |
rs886049489 |
GRCh37: 12:49483483-49483483 GRCh38: 12:49089700-49089700 |
24 |
DHH |
NM_021044.4(DHH):c.587C>A (p.Ala196Glu) |
SNV |
Uncertain Significance
|
309101 |
rs755199142 |
GRCh37: 12:49484246-49484246 GRCh38: 12:49090463-49090463 |
25 |
DHH |
NM_021044.4(DHH):c.-254G>A |
SNV |
Uncertain Significance
|
309107 |
rs577191826 |
GRCh37: 12:49488549-49488549 GRCh38: 12:49094766-49094766 |
26 |
DHH |
NM_021044.4(DHH):c.367C>T (p.Leu123=) |
SNV |
Uncertain Significance
|
309104 |
rs760627027 |
GRCh37: 12:49485109-49485109 GRCh38: 12:49091326-49091326 |
27 |
DHH |
NM_021044.4(DHH):c.*110G>C |
SNV |
Uncertain Significance
|
309096 |
rs189970312 |
GRCh37: 12:49483532-49483532 GRCh38: 12:49089749-49089749 |
28 |
DHH |
NM_021044.4(DHH):c.*401G>T |
SNV |
Uncertain Significance
|
309093 |
rs550262271 |
GRCh37: 12:49483241-49483241 GRCh38: 12:49089458-49089458 |
29 |
DHH |
NM_021044.4(DHH):c.926G>T (p.Arg309Leu) |
SNV |
Uncertain Significance
|
309099 |
rs886049490 |
GRCh37: 12:49483907-49483907 GRCh38: 12:49090124-49090124 |
30 |
DHH |
NM_021044.4(DHH):c.*154G>T |
SNV |
Uncertain Significance
|
880554 |
rs1939259964 |
GRCh37: 12:49483488-49483488 GRCh38: 12:49089705-49089705 |
31 |
DHH |
NM_021044.4(DHH):c.*65G>T |
SNV |
Uncertain Significance
|
880555 |
rs990245573 |
GRCh37: 12:49483577-49483577 GRCh38: 12:49089794-49089794 |
32 |
DHH |
NM_021044.4(DHH):c.953G>C (p.Arg318Pro) |
SNV |
Uncertain Significance
|
880556 |
rs1373354654 |
GRCh37: 12:49483880-49483880 GRCh38: 12:49090097-49090097 |
33 |
DHH |
NM_021044.4(DHH):c.656T>G (p.Leu219Arg) |
SNV |
Uncertain Significance
|
881975 |
rs1939277254 |
GRCh37: 12:49484177-49484177 GRCh38: 12:49090394-49090394 |
34 |
DHH |
NM_021044.4(DHH):c.630C>A (p.Ser210Arg) |
SNV |
Uncertain Significance
|
881976 |
rs764922471 |
GRCh37: 12:49484203-49484203 GRCh38: 12:49090420-49090420 |
35 |
DHH |
NM_021044.4(DHH):c.565+13G>A |
SNV |
Uncertain Significance
|
881977 |
rs369743278 |
GRCh37: 12:49484898-49484898 GRCh38: 12:49091115-49091115 |
36 |
DHH |
NM_021044.4(DHH):c.536G>A (p.Arg179His) |
SNV |
Uncertain Significance
|
881978 |
rs768138247 |
GRCh37: 12:49484940-49484940 GRCh38: 12:49091157-49091157 |
37 |
DHH |
NM_021044.4(DHH):c.*427C>T |
SNV |
Uncertain Significance
|
883846 |
rs1389748240 |
GRCh37: 12:49483215-49483215 GRCh38: 12:49089432-49089432 |
38 |
DHH |
NM_021044.4(DHH):c.799C>G (p.Leu267Val) |
SNV |
Uncertain Significance
|
1378694 |
|
GRCh37: 12:49484034-49484034 GRCh38: 12:49090251-49090251 |
39 |
DHH |
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) |
SNV |
Uncertain Significance
|
1376380 |
|
GRCh37: 12:49488010-49488010 GRCh38: 12:49094227-49094227 |
40 |
DHH |
NM_021044.4(DHH):c.605G>A (p.Gly202Glu) |
SNV |
Uncertain Significance
|
1440085 |
|
GRCh37: 12:49484228-49484228 GRCh38: 12:49090445-49090445 |
41 |
DHH |
NM_021044.4(DHH):c.324C>A (p.Asn108Lys) |
SNV |
Uncertain Significance
|
1490815 |
|
GRCh37: 12:49485152-49485152 GRCh38: 12:49091369-49091369 |
42 |
DHH |
NM_021044.4(DHH):c.174C>A (p.Gly58=) |
SNV |
Likely Benign
|
1541814 |
|
GRCh37: 12:49488122-49488122 GRCh38: 12:49094339-49094339 |
43 |
DHH |
NM_021044.4(DHH):c.303+10G>A |
SNV |
Likely Benign
|
1669346 |
|
GRCh37: 12:49487983-49487983 GRCh38: 12:49094200-49094200 |
44 |
DHH |
NM_021044.4(DHH):c.*219G>A |
SNV |
Likely Benign
|
309094 |
rs145466782 |
GRCh37: 12:49483423-49483423 GRCh38: 12:49089640-49089640 |
45 |
DHH |
NM_021044.4(DHH):c.-255T>C |
SNV |
Benign
|
309108 |
rs59178045 |
GRCh37: 12:49488550-49488550 GRCh38: 12:49094767-49094767 |
46 |
DHH |
NM_021044.4(DHH):c.*87G>T |
SNV |
Benign
|
309097 |
rs75012285 |
GRCh37: 12:49483555-49483555 GRCh38: 12:49089772-49089772 |
47 |
DHH |
NM_021044.4(DHH):c.-18C>T |
SNV |
Benign
|
309106 |
rs112818602 |
GRCh37: 12:49488313-49488313 GRCh38: 12:49094530-49094530 |
48 |
DHH |
NM_021044.4(DHH):c.543C>T (p.His181=) |
SNV |
Benign
|
309103 |
rs117527954 |
GRCh37: 12:49484933-49484933 GRCh38: 12:49091150-49091150 |
49 |
DHH |
NM_021044.4(DHH):c.192G>A (p.Glu64=) |
SNV |
Benign
|
775008 |
rs201464596 |
GRCh37: 12:49488104-49488104 GRCh38: 12:49094321-49094321 |