1 |
KLHL41 |
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) |
DUP |
Pathogenic
|
1324628 |
|
GRCh37: 2:170374733-170374734 GRCh38: 2:169518223-169518224 |
2 |
KLHL41 |
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter) |
SNV |
Pathogenic
|
1073199 |
|
GRCh37: 2:170367315-170367315 GRCh38: 2:169510805-169510805 |
3 |
KLHL41 |
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) |
DUP |
Pathogenic
|
566091 |
rs775513051 |
GRCh37: 2:170366495-170366496 GRCh38: 2:169509985-169509986 |
4 |
KLHL41 |
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) |
DEL |
Pathogenic
|
581470 |
rs1247404453 |
GRCh37: 2:170366453-170366460 GRCh38: 2:169509943-169509950 |
5 |
KLHL41 |
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) |
DEL |
Pathogenic
|
645750 |
rs1574349645 |
GRCh37: 2:170367217-170367226 GRCh38: 2:169510707-169510716 |
6 |
KLHL41 |
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) |
SNV |
Pathogenic
|
183245 |
rs730882260 |
GRCh37: 2:170371211-170371211 GRCh38: 2:169514701-169514701 |
7 |
KLHL41 |
NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del) |
MICROSAT |
Pathogenic
|
183244 |
rs730882259 |
GRCh37: 2:170366863-170366865 GRCh38: 2:169510353-169510355 |
8 |
KLHL41 |
NM_006063.3(KLHL41):c.641del (p.Asn214fs) |
DEL |
Pathogenic
|
183243 |
rs730882235 |
GRCh37: 2:170366925-170366925 GRCh38: 2:169510415-169510415 |
9 |
KLHL41 |
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) |
DEL |
Pathogenic
|
183242 |
rs730882258 |
GRCh37: 2:170382132-170382139 GRCh38: 2:169525622-169525629 |
10 |
KLHL41 |
NM_006063.3(KLHL41):c.1296del (p.Lys432fs) |
DEL |
Pathogenic
|
646196 |
rs1288106608 |
GRCh37: 2:170371385-170371385 GRCh38: 2:169514875-169514875 |
11 |
KLHL41 |
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter) |
SNV |
Pathogenic
|
1071146 |
|
GRCh37: 2:170377374-170377374 GRCh38: 2:169520864-169520864 |
12 |
KLHL41 |
NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu) |
INDEL |
Pathogenic
|
183241 |
rs730882257 |
GRCh37: 2:170366747-170366747 GRCh38: 2:169510237-169510237 |
13 |
KLHL41 |
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs) |
DEL |
Pathogenic
|
1074897 |
|
GRCh37: 2:170371401-170371402 GRCh38: 2:169514891-169514892 |
14 |
KLHL41 |
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter) |
SNV |
Pathogenic
|
1459768 |
|
GRCh37: 2:170377498-170377498 GRCh38: 2:169520988-169520988 |
15 |
KLHL41 |
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys) |
SNV |
Likely Pathogenic
|
1465145 |
|
GRCh37: 2:170366955-170366955 GRCh38: 2:169510445-169510445 |
16 |
KLHL41 |
NM_006063.3(KLHL41):c.215del (p.Lys72fs) |
DEL |
Likely Pathogenic
|
1324627 |
|
GRCh37: 2:170366496-170366496 GRCh38: 2:169509986-169509986 |
17 |
KLHL41 |
NM_006063.3(KLHL41):c.1110+6_1110+8del |
MICROSAT |
Uncertain Significance
|
1009312 |
rs1186579373 |
GRCh37: 2:170367401-170367403 GRCh38: 2:169510891-169510893 |
18 |
KLHL41 |
NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser) |
SNV |
Uncertain Significance
|
695017 |
rs754460870 |
GRCh37: 2:170366955-170366955 GRCh38: 2:169510445-169510445 |
19 |
KLHL41 |
NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro) |
SNV |
Uncertain Significance
|
695018 |
rs1574352719 |
GRCh37: 2:170374854-170374854 GRCh38: 2:169518344-169518344 |
20 |
KLHL41 |
NC_000002.12:g.(?_169509769)_(169525706_?)dup |
DUP |
Uncertain Significance
|
831668 |
|
GRCh37: 2:170366279-170382216 GRCh38: |
21 |
KLHL41 |
NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) |
SNV |
Uncertain Significance
|
1030070 |
rs759521852 |
GRCh37: 2:170366464-170366464 GRCh38: 2:169509954-169509954 |
22 |
KLHL41 |
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) |
SNV |
Uncertain Significance
|
665319 |
rs553091070 |
GRCh37: 2:170366725-170366725 GRCh38: 2:169510215-169510215 |
23 |
KLHL41 |
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) |
SNV |
Uncertain Significance
|
839710 |
rs760007708 |
GRCh37: 2:170374777-170374777 GRCh38: 2:169518267-169518267 |
24 |
KLHL41 |
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) |
SNV |
Uncertain Significance
|
854197 |
rs746755443 |
GRCh37: 2:170374839-170374839 GRCh38: 2:169518329-169518329 |
25 |
KLHL41 |
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) |
SNV |
Uncertain Significance
|
955693 |
rs777151398 |
GRCh37: 2:170367039-170367039 GRCh38: 2:169510529-169510529 |
26 |
KLHL41 |
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) |
SNV |
Uncertain Significance
|
972417 |
rs766071573 |
GRCh37: 2:170367066-170367066 GRCh38: 2:169510556-169510556 |
27 |
KLHL41 |
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) |
SNV |
Uncertain Significance
|
1034834 |
rs772174002 |
GRCh37: 2:170366481-170366481 GRCh38: 2:169509971-169509971 |
28 |
KLHL41 |
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) |
SNV |
Uncertain Significance
|
1040900 |
rs758684130 |
GRCh37: 2:170382096-170382096 GRCh38: 2:169525586-169525586 |
29 |
KLHL41 |
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) |
SNV |
Uncertain Significance
|
1378645 |
|
GRCh37: 2:170377388-170377388 GRCh38: 2:169520878-169520878 |
30 |
KLHL41 |
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) |
SNV |
Uncertain Significance
|
1400954 |
|
GRCh37: 2:170366679-170366679 GRCh38: 2:169510169-169510169 |
31 |
KLHL41 |
NM_006063.3(KLHL41):c.769G>C (p.Asp257His) |
SNV |
Uncertain Significance
|
1389908 |
|
GRCh37: 2:170367057-170367057 GRCh38: 2:169510547-169510547 |
32 |
KLHL41 |
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) |
SNV |
Uncertain Significance
|
1369962 |
|
GRCh37: 2:170374800-170374800 GRCh38: 2:169518290-169518290 |
33 |
KLHL41 |
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) |
SNV |
Uncertain Significance
|
1371920 |
|
GRCh37: 2:170366746-170366746 GRCh38: 2:169510236-169510236 |
34 |
KLHL41 |
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) |
SNV |
Uncertain Significance
|
1425685 |
|
GRCh37: 2:170371120-170371120 GRCh38: 2:169514610-169514610 |
35 |
KLHL41 |
NM_006063.3(KLHL41):c.199G>C (p.Asp67His) |
SNV |
Uncertain Significance
|
1408193 |
|
GRCh37: 2:170366487-170366487 GRCh38: 2:169509977-169509977 |
36 |
KLHL41 |
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) |
SNV |
Uncertain Significance
|
1415101 |
|
GRCh37: 2:170366302-170366302 GRCh38: 2:169509792-169509792 |
37 |
KLHL41 |
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) |
SNV |
Uncertain Significance
|
1417397 |
|
GRCh37: 2:170366389-170366389 GRCh38: 2:169509879-169509879 |
38 |
KLHL41 |
NM_006063.3(KLHL41):c.229G>C (p.Asp77His) |
SNV |
Uncertain Significance
|
1464812 |
|
GRCh37: 2:170366517-170366517 GRCh38: 2:169510007-169510007 |
39 |
KLHL41 |
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) |
SNV |
Uncertain Significance
|
1465032 |
|
GRCh37: 2:170371458-170371458 GRCh38: 2:169514948-169514948 |
40 |
KLHL41 |
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) |
SNV |
Uncertain Significance
|
1446892 |
|
GRCh37: 2:170371175-170371175 GRCh38: 2:169514665-169514665 |
41 |
KLHL41 |
NC_000002.11:g.(?_170366289)_(170382206_?)dup |
DUP |
Uncertain Significance
|
1450330 |
|
GRCh37: 2:170366289-170382206 GRCh38: |
42 |
KLHL41 |
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) |
SNV |
Uncertain Significance
|
1479763 |
|
GRCh37: 2:170366353-170366353 GRCh38: 2:169509843-169509843 |
43 |
KLHL41 |
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) |
SNV |
Uncertain Significance
|
1472289 |
|
GRCh37: 2:170366949-170366949 GRCh38: 2:169510439-169510439 |
44 |
KLHL41 |
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) |
SNV |
Uncertain Significance
|
1451072 |
|
GRCh37: 2:170374787-170374787 GRCh38: 2:169518277-169518277 |
45 |
KLHL41 |
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) |
SNV |
Uncertain Significance
|
1522658 |
|
GRCh37: 2:170371156-170371156 GRCh38: 2:169514646-169514646 |
46 |
KLHL41 |
NM_006063.3(KLHL41):c.1709+20A>G |
SNV |
Uncertain Significance
|
1351045 |
|
GRCh37: 2:170377537-170377537 GRCh38: 2:169521027-169521027 |
47 |
KLHL41 |
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) |
SNV |
Uncertain Significance
|
1525212 |
|
GRCh37: 2:170371108-170371108 GRCh38: 2:169514598-169514598 |
48 |
KLHL41 |
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) |
INDEL |
Uncertain Significance
|
934936 |
rs1684004022 |
GRCh37: 2:170366458-170366459 GRCh38: 2:169509948-169509949 |
49 |
KLHL41 |
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) |
SNV |
Uncertain Significance
|
934954 |
rs762482219 |
GRCh37: 2:170382142-170382142 GRCh38: 2:169525632-169525632 |
50 |
KLHL41 |
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) |
SNV |
Uncertain Significance
|
935006 |
rs773869984 |
GRCh37: 2:170367131-170367131 GRCh38: 2:169510621-169510621 |