1 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) |
SNV |
Pathogenic
|
31061 |
rs1364598710 |
GRCh37: 15:65370323-65370323 GRCh38: 15:65077985-65077985 |
2 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) |
SNV |
Pathogenic
|
31063 |
rs200549195 |
GRCh37: 15:65369895-65369895 GRCh38: 15:65077557-65077557 |
3 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) |
SNV |
Pathogenic
|
435545 |
rs1303411209 |
GRCh37: 15:65369397-65369397 GRCh38: 15:65077059-65077059 |
4 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys) |
SNV |
Pathogenic
|
31062 |
rs387907090 |
GRCh37: 15:65370375-65370375 GRCh38: 15:65078037-65078037 |
5 |
overlap with 42 genes |
|
DEL |
Likely Pathogenic
|
560063 |
|
GRCh37: 15:63414894-66439797 GRCh38: |
6 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn) |
SNV |
Likely Pathogenic
|
1709118 |
|
GRCh37: 15:65370323-65370323 GRCh38: 15:65077985-65077985 |
7 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
499718 |
rs767384093 |
GRCh37: 15:65369443-65369443 GRCh38: 15:65077105-65077105 |
8 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
464351 |
rs999785767 |
GRCh37: 15:65369404-65369404 GRCh38: 15:65077066-65077066 |
9 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
316741 |
rs373039171 |
GRCh37: 15:65369547-65369547 GRCh38: 15:65077209-65077209 |
10 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
316738 |
rs567309902 |
GRCh37: 15:65369484-65369484 GRCh38: 15:65077146-65077146 |
11 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
654357 |
rs755775428 |
GRCh37: 15:65369377-65369377 GRCh38: 15:65077039-65077039 |
12 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
706268 |
rs376673920 |
GRCh37: 15:65370344-65370344 GRCh38: 15:65078006-65078006 |
13 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
763184 |
rs1162054356 |
GRCh37: 15:65369315-65369315 GRCh38: 15:65076977-65076977 |
14 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
316735 |
rs777431652 |
GRCh37: 15:65369381-65369381 GRCh38: 15:65077043-65077043 |
15 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
887336 |
rs760134475 |
GRCh37: 15:65369462-65369462 GRCh38: 15:65077124-65077124 |
16 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) |
SNV |
Uncertain Significance
|
859552 |
rs1595912705 |
GRCh37: 15:65369705-65369705 GRCh38: 15:65077367-65077367 |
17 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) |
SNV |
Uncertain Significance
|
841705 |
rs1316788781 |
GRCh37: 15:65369542-65369542 GRCh38: 15:65077204-65077204 |
18 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) |
SNV |
Uncertain Significance
|
845225 |
rs192935606 |
GRCh37: 15:65369550-65369550 GRCh38: 15:65077212-65077212 |
19 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) |
SNV |
Uncertain Significance
|
847762 |
rs924967048 |
GRCh37: 15:65369785-65369785 GRCh38: 15:65077447-65077447 |
20 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg) |
SNV |
Uncertain Significance
|
850922 |
rs770087291 |
GRCh37: 15:65369352-65369352 GRCh38: 15:65077014-65077014 |
21 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) |
SNV |
Uncertain Significance
|
887530 |
rs555158930 |
GRCh37: 15:65369802-65369802 GRCh38: 15:65077464-65077464 |
22 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) |
INDEL |
Uncertain Significance
|
933519 |
rs2086999390 |
GRCh37: 15:65370092-65370093 GRCh38: 15:65077754-65077755 |
23 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) |
SNV |
Uncertain Significance
|
942450 |
rs544519051 |
GRCh37: 15:65369254-65369254 GRCh38: 15:65076916-65076916 |
24 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) |
SNV |
Uncertain Significance
|
947429 |
rs764697405 |
GRCh37: 15:65369946-65369946 GRCh38: 15:65077608-65077608 |
25 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) |
SNV |
Uncertain Significance
|
1009264 |
rs769042275 |
GRCh37: 15:65370286-65370286 GRCh38: 15:65077948-65077948 |
26 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) |
SNV |
Uncertain Significance
|
1010340 |
rs746640081 |
GRCh37: 15:65369197-65369197 GRCh38: 15:65076859-65076859 |
27 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) |
SNV |
Uncertain Significance
|
1014225 |
rs1403660333 |
GRCh37: 15:65369511-65369511 GRCh38: 15:65077173-65077173 |
28 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) |
SNV |
Uncertain Significance
|
1018749 |
rs1198118426 |
GRCh37: 15:65369776-65369776 GRCh38: 15:65077438-65077438 |
29 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) |
SNV |
Uncertain Significance
|
393161 |
rs939242678 |
GRCh37: 15:65369350-65369350 GRCh38: 15:65077012-65077012 |
30 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) |
SNV |
Uncertain Significance
|
1021932 |
rs1244821047 |
GRCh37: 15:65369568-65369568 GRCh38: 15:65077230-65077230 |
31 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) |
SNV |
Uncertain Significance
|
1036361 |
rs1322919655 |
GRCh37: 15:65370282-65370282 GRCh38: 15:65077944-65077944 |
32 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) |
SNV |
Uncertain Significance
|
1036820 |
rs1278649126 |
GRCh37: 15:65369856-65369856 GRCh38: 15:65077518-65077518 |
33 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) |
SNV |
Uncertain Significance
|
1037225 |
rs775442274 |
GRCh37: 15:65369274-65369274 GRCh38: 15:65076936-65076936 |
34 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) |
DEL |
Uncertain Significance
|
1037884 |
rs2086974277 |
GRCh37: 15:65369133-65369417 GRCh38: 15:65076795-65077079 |
35 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) |
SNV |
Uncertain Significance
|
995130 |
rs540070816 |
GRCh37: 15:65370054-65370054 GRCh38: 15:65077716-65077716 |
36 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) |
SNV |
Uncertain Significance
|
1387756 |
|
GRCh37: 15:65369995-65369995 GRCh38: 15:65077657-65077657 |
37 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) |
SNV |
Uncertain Significance
|
1394516 |
|
GRCh37: 15:65369284-65369284 GRCh38: 15:65076946-65076946 |
38 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) |
SNV |
Uncertain Significance
|
1382618 |
|
GRCh37: 15:65370213-65370213 GRCh38: 15:65077875-65077875 |
39 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) |
DEL |
Uncertain Significance
|
1368417 |
|
GRCh37: 15:65369239-65369239 GRCh38: 15:65076901-65076901 |
40 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) |
SNV |
Uncertain Significance
|
1382341 |
|
GRCh37: 15:65369169-65369169 GRCh38: 15:65076831-65076831 |
41 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) |
SNV |
Uncertain Significance
|
1362109 |
|
GRCh37: 15:65370526-65370526 GRCh38: 15:65078188-65078188 |
42 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) |
SNV |
Uncertain Significance
|
1364404 |
|
GRCh37: 15:65369400-65369400 GRCh38: 15:65077062-65077062 |
43 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) |
SNV |
Uncertain Significance
|
1406339 |
|
GRCh37: 15:65370418-65370418 GRCh38: 15:65078080-65078080 |
44 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) |
INDEL |
Uncertain Significance
|
1420272 |
|
GRCh37: 15:65369228-65369229 GRCh38: 15:65076890-65076891 |
45 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) |
SNV |
Uncertain Significance
|
1420317 |
|
GRCh37: 15:65369229-65369229 GRCh38: 15:65076891-65076891 |
46 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) |
SNV |
Uncertain Significance
|
1378094 |
|
GRCh37: 15:65370099-65370099 GRCh38: 15:65077761-65077761 |
47 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) |
SNV |
Uncertain Significance
|
1469073 |
|
GRCh37: 15:65370261-65370261 GRCh38: 15:65077923-65077923 |
48 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) |
SNV |
Uncertain Significance
|
1481987 |
|
GRCh37: 15:65369271-65369271 GRCh38: 15:65076933-65076933 |
49 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) |
SNV |
Uncertain Significance
|
1448836 |
|
GRCh37: 15:65370040-65370040 GRCh38: 15:65077702-65077702 |
50 |
KBTBD13 |
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) |
SNV |
Uncertain Significance
|
1436078 |
|
GRCh37: 15:65369558-65369558 GRCh38: 15:65077220-65077220 |