1 |
KLHL40 |
NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu) |
SNV |
Pathogenic
|
60514 |
rs397509420 |
GRCh37: 3:42727712-42727712 GRCh38: 3:42686220-42686220 |
2 |
KLHL40 |
NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro) |
SNV |
Pathogenic
|
60515 |
rs397509421 |
GRCh37: 3:42732355-42732355 GRCh38: 3:42690863-42690863 |
3 |
KLHL40 |
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter) |
SNV |
Pathogenic
|
60516 |
rs397509420 |
GRCh37: 3:42727712-42727712 GRCh38: 3:42686220-42686220 |
4 |
KLHL40 |
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter) |
SNV |
Pathogenic
|
961304 |
rs375331819 |
GRCh37: 3:42727321-42727321 GRCh38: 3:42685829-42685829 |
5 |
KLHL40 |
NM_152393.4(KLHL40):c.1281_1294del (p.Cys428fs) |
DEL |
Pathogenic
|
1320051 |
|
GRCh37: 3:42729761-42729774 GRCh38: 3:42688269-42688282 |
6 |
KLHL40 |
NM_152393.4(KLHL40):c.818dup (p.Lys275fs) |
DUP |
Pathogenic
|
650910 |
rs1575218831 |
GRCh37: 3:42727926-42727927 GRCh38: 3:42686434-42686435 |
7 |
KLHL40 |
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter) |
SNV |
Pathogenic
|
541327 |
rs139588377 |
GRCh37: 3:42730183-42730183 GRCh38: 3:42688691-42688691 |
8 |
KLHL40 |
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs) |
MICROSAT |
Pathogenic
|
952701 |
rs1384412486 |
GRCh37: 3:42727652-42727653 GRCh38: 3:42686160-42686161 |
9 |
KLHL40 |
NM_152393.4(KLHL40):c.631del (p.Ala211fs) |
DEL |
Pathogenic
|
658674 |
rs752734208 |
GRCh37: 3:42727740-42727740 GRCh38: 3:42686248-42686248 |
10 |
KLHL40 |
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter) |
SNV |
Pathogenic
|
1405293 |
|
GRCh37: 3:42727333-42727333 GRCh38: 3:42685841-42685841 |
11 |
KLHL40 |
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter) |
SNV |
Pathogenic
|
1388572 |
|
GRCh37: 3:42727168-42727168 GRCh38: 3:42685676-42685676 |
12 |
KLHL40 |
NM_152393.4(KLHL40):c.173del (p.Phe58fs) |
DEL |
Pathogenic
|
1454686 |
|
GRCh37: 3:42727282-42727282 GRCh38: 3:42685790-42685790 |
13 |
KLHL40 |
NM_152393.4(KLHL40):c.928del (p.Leu310fs) |
DEL |
Pathogenic
|
1411479 |
|
GRCh37: 3:42728036-42728036 GRCh38: 3:42686544-42686544 |
14 |
KLHL40 |
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs) |
DEL |
Pathogenic
|
1458028 |
|
GRCh37: 3:42727313-42727322 GRCh38: 3:42685821-42685830 |
15 |
KLHL40 |
NM_152393.4(KLHL40):c.1608-1G>A |
SNV |
Pathogenic
|
1172562 |
|
GRCh37: 3:42732350-42732350 GRCh38: 3:42690858-42690858 |
16 |
KLHL40 |
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) |
SNV |
Pathogenic
|
846771 |
rs778022582 |
GRCh37: 3:42730455-42730455 GRCh38: 3:42688963-42688963 |
17 |
KLHL40 |
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys) |
SNV |
Pathogenic/Likely Pathogenic
|
423767 |
rs758188096 |
GRCh37: 3:42730437-42730437 GRCh38: 3:42688945-42688945 |
18 |
KLHL40 |
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) |
SNV |
Pathogenic/Likely Pathogenic
|
1029197 |
rs768335581 |
GRCh37: 3:42727813-42727813 GRCh38: 3:42686321-42686321 |
19 |
KLHL40 |
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) |
SNV |
Pathogenic/Likely Pathogenic
|
60512 |
rs397509419 |
GRCh37: 3:42730521-42730521 GRCh38: 3:42689029-42689029 |
20 |
KLHL40 |
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) |
SNV |
Likely Pathogenic
|
60513 |
rs367579275 |
GRCh37: 3:42730193-42730193 GRCh38: 3:42688701-42688701 |
21 |
KLHL40 |
NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter) |
SNV |
Likely Pathogenic
|
1675302 |
|
GRCh37: 3:42730138-42730138 GRCh38: 3:42688646-42688646 |
22 |
KLHL40 |
NM_152393.4(KLHL40):c.1607+1G>T |
SNV |
Likely Pathogenic
|
1510362 |
|
GRCh37: 3:42730547-42730547 GRCh38: 3:42689055-42689055 |
23 |
KLHL40 |
NM_152393.4(KLHL40):c.1152+2T>A |
SNV |
Likely Pathogenic
|
653053 |
rs1575219191 |
GRCh37: 3:42728264-42728264 GRCh38: 3:42686772-42686772 |
24 |
KLHL40 |
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter) |
SNV |
Likely Pathogenic
|
1029196 |
rs1697319878 |
GRCh37: 3:42730428-42730428 GRCh38: 3:42688936-42688936 |
25 |
KLHL40 |
NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter) |
SNV |
Likely Pathogenic
|
804436 |
rs1575218072 |
GRCh37: 3:42727135-42727135 GRCh38: 3:42685643-42685643 |
26 |
KLHL40 |
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) |
SNV |
Likely Pathogenic
|
807621 |
rs778303947 |
GRCh37: 3:42727286-42727286 GRCh38: 3:42685794-42685794 |
27 |
KLHL40 |
NM_152393.4(KLHL40):c.1153-2A>T |
SNV |
Likely Pathogenic
|
541330 |
rs752493018 |
GRCh37: 3:42729632-42729632 GRCh38: 3:42688140-42688140 |
28 |
KLHL40 |
NM_152393.4(KLHL40):c.1421+1G>T |
SNV |
Likely Pathogenic
|
571143 |
rs1186218257 |
GRCh37: 3:42730210-42730210 GRCh38: 3:42688718-42688718 |
29 |
KLHL40 |
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
640377 |
rs778565563 |
GRCh37: 3:42727210-42727210 GRCh38: 3:42685718-42685718 |
30 |
KLHL40 |
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
474339 |
rs763283033 |
GRCh37: 3:42728041-42728041 GRCh38: 3:42686549-42686549 |
31 |
KLHL40 |
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
474324 |
rs138791086 |
GRCh37: 3:42729754-42729754 GRCh38: 3:42688262-42688262 |
32 |
KLHL40 |
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) |
SNV |
Uncertain Significance
|
578842 |
rs140056720 |
GRCh37: 3:42727198-42727198 GRCh38: 3:42685706-42685706 |
33 |
KLHL40 |
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) |
SNV |
Uncertain Significance
|
634636 |
rs773720799 |
GRCh37: 3:42730184-42730184 GRCh38: 3:42688692-42688692 |
34 |
KLHL40 |
NM_152393.4(KLHL40):c.182G>A (p.Arg61His) |
SNV |
Uncertain Significance
|
1007773 |
rs778276929 |
GRCh37: 3:42727292-42727292 GRCh38: 3:42685800-42685800 |
35 |
KLHL40 |
NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val) |
SNV |
Uncertain Significance
|
474329 |
rs375270697 |
GRCh37: 3:42730416-42730416 GRCh38: 3:42688924-42688924 |
36 |
KLHL40 |
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) |
SNV |
Uncertain Significance
|
689641 |
rs367579275 |
GRCh37: 3:42730193-42730193 GRCh38: 3:42688701-42688701 |
37 |
KLHL40 |
NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala) |
SNV |
Uncertain Significance
|
1713345 |
|
GRCh37: 3:42727765-42727765 GRCh38: 3:42686273-42686273 |
38 |
KLHL40 |
NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly) |
SNV |
Uncertain Significance
|
1713637 |
|
GRCh37: 3:42727747-42727747 GRCh38: 3:42686255-42686255 |
39 |
KLHL40 |
NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr) |
SNV |
Uncertain Significance
|
1713677 |
|
GRCh37: 3:42730513-42730513 GRCh38: 3:42689021-42689021 |
40 |
KLHL40 |
NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro) |
SNV |
Uncertain Significance
|
1716553 |
|
GRCh37: 3:42727829-42727829 GRCh38: 3:42686337-42686337 |
41 |
KLHL40 |
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) |
SNV |
Uncertain Significance
|
662094 |
rs759757085 |
GRCh37: 3:42729724-42729724 GRCh38: 3:42688232-42688232 |
42 |
KLHL40 |
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) |
SNV |
Uncertain Significance
|
804978 |
rs377564589 |
GRCh37: 3:42728187-42728187 GRCh38: 3:42686695-42686695 |
43 |
KLHL40 |
NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe) |
SNV |
Uncertain Significance
|
1360141 |
|
GRCh37: 3:42727498-42727498 GRCh38: 3:42686006-42686006 |
44 |
KLHL40 |
NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val) |
SNV |
Uncertain Significance
|
1378076 |
|
GRCh37: 3:42729691-42729691 GRCh38: 3:42688199-42688199 |
45 |
KLHL40 |
NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr) |
SNV |
Uncertain Significance
|
1387779 |
|
GRCh37: 3:42728248-42728248 GRCh38: 3:42686756-42686756 |
46 |
KLHL40 |
NM_152393.4(KLHL40):c.519G>A (p.Ser173=) |
SNV |
Uncertain Significance
|
1354905 |
|
GRCh37: 3:42727629-42727629 GRCh38: 3:42686137-42686137 |
47 |
KLHL40 |
NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln) |
SNV |
Uncertain Significance
|
1401822 |
|
GRCh37: 3:42727916-42727916 GRCh38: 3:42686424-42686424 |
48 |
KLHL40 |
NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile) |
SNV |
Uncertain Significance
|
1406191 |
|
GRCh37: 3:42727463-42727463 GRCh38: 3:42685971-42685971 |
49 |
KLHL40 |
NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser) |
SNV |
Uncertain Significance
|
1421691 |
|
GRCh37: 3:42733420-42733420 GRCh38: 3:42691928-42691928 |
50 |
KLHL40 |
NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val) |
SNV |
Uncertain Significance
|
1407051 |
|
GRCh37: 3:42729734-42729734 GRCh38: 3:42688242-42688242 |