1 |
PRF1
|
PRF1, 1-BP DEL, 50T
|
deletion |
Pathogenic |
|
|
|
2 |
PRF1
|
NM_001083116.2(PRF1): c.1122G> A (p.Trp374Ter)
|
single nucleotide variant |
Pathogenic |
rs104894176
|
GRCh37 |
Chromosome 10, 72358355: 72358355 |
3 |
PRF1
|
NM_001083116.2(PRF1): c.1122G> A (p.Trp374Ter)
|
single nucleotide variant |
Pathogenic |
rs104894176
|
GRCh38 |
Chromosome 10, 70598599: 70598599 |
4 |
PRF1
|
NM_001083116.2(PRF1): c.190C> T (p.Gln64Ter)
|
single nucleotide variant |
Pathogenic |
rs104894180
|
GRCh37 |
Chromosome 10, 72360469: 72360469 |
5 |
PRF1
|
NM_001083116.2(PRF1): c.190C> T (p.Gln64Ter)
|
single nucleotide variant |
Pathogenic |
rs104894180
|
GRCh38 |
Chromosome 10, 70600713: 70600713 |
6 |
PRF1
|
NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp)
|
single nucleotide variant |
Pathogenic |
rs28933973
|
GRCh37 |
Chromosome 10, 72358804: 72358804 |
7 |
PRF1
|
NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp)
|
single nucleotide variant |
Pathogenic |
rs28933973
|
GRCh38 |
Chromosome 10, 70599048: 70599048 |
8 |
PRF1
|
NM_001083116.2(PRF1): c.1286G> A (p.Gly429Glu)
|
single nucleotide variant |
Pathogenic |
rs104894181
|
GRCh37 |
Chromosome 10, 72358191: 72358191 |
9 |
PRF1
|
NM_001083116.2(PRF1): c.1286G> A (p.Gly429Glu)
|
single nucleotide variant |
Pathogenic |
rs104894181
|
GRCh38 |
Chromosome 10, 70598435: 70598435 |
10 |
PRF1
|
NM_001083116.2(PRF1): c.1034C> T (p.Pro345Leu)
|
single nucleotide variant |
Pathogenic |
rs28933374
|
GRCh37 |
Chromosome 10, 72358443: 72358443 |
11 |
PRF1
|
NM_001083116.2(PRF1): c.1034C> T (p.Pro345Leu)
|
single nucleotide variant |
Pathogenic |
rs28933374
|
GRCh38 |
Chromosome 10, 70598687: 70598687 |
12 |
PRF1
|
NM_001083116.2(PRF1): c.836G> A (p.Cys279Tyr)
|
single nucleotide variant |
Pathogenic |
rs104894182
|
GRCh37 |
Chromosome 10, 72358641: 72358641 |
13 |
PRF1
|
NM_001083116.2(PRF1): c.836G> A (p.Cys279Tyr)
|
single nucleotide variant |
Pathogenic |
rs104894182
|
GRCh38 |
Chromosome 10, 70598885: 70598885 |
14 |
PRF1
|
NM_001083116.2(PRF1): c.548T> G (p.Val183Gly)
|
single nucleotide variant |
Pathogenic |
rs104894183
|
GRCh37 |
Chromosome 10, 72358929: 72358929 |
15 |
PRF1
|
NM_001083116.2(PRF1): c.548T> G (p.Val183Gly)
|
single nucleotide variant |
Pathogenic |
rs104894183
|
GRCh38 |
Chromosome 10, 70599173: 70599173 |
16 |
PRF1
|
NM_001083116.2(PRF1): c.755A> G (p.Asn252Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs28933375
|
GRCh37 |
Chromosome 10, 72358722: 72358722 |
17 |
PRF1
|
NM_001083116.2(PRF1): c.755A> G (p.Asn252Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs28933375
|
GRCh38 |
Chromosome 10, 70598966: 70598966 |
18 |
PRF1
|
NM_001083116.2(PRF1): c.1304C> T (p.Thr435Met)
|
single nucleotide variant |
Pathogenic |
rs28933376
|
GRCh37 |
Chromosome 10, 72358173: 72358173 |
19 |
PRF1
|
NM_001083116.2(PRF1): c.1304C> T (p.Thr435Met)
|
single nucleotide variant |
Pathogenic |
rs28933376
|
GRCh38 |
Chromosome 10, 70598417: 70598417 |
20 |
PRF1
|
NM_001083116.2(PRF1): c.272C> T (p.Ala91Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35947132
|
GRCh37 |
Chromosome 10, 72360387: 72360387 |
21 |
PRF1
|
NM_001083116.2(PRF1): c.272C> T (p.Ala91Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35947132
|
GRCh38 |
Chromosome 10, 70600631: 70600631 |
22 |
PRF1
|
NM_001083116.2(PRF1): c.11G> A (p.Arg4His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35418374
|
GRCh37 |
Chromosome 10, 72360648: 72360648 |
23 |
PRF1
|
NM_001083116.2(PRF1): c.11G> A (p.Arg4His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35418374
|
GRCh38 |
Chromosome 10, 70600892: 70600892 |
24 |
PRF1
|
NM_001083116.2(PRF1): c.1090_1091delCT (p.Leu364Glufs)
|
deletion |
Pathogenic |
rs771552960
|
GRCh38 |
Chromosome 10, 70598630: 70598631 |
25 |
PRF1
|
NM_001083116.2(PRF1): c.1090_1091delCT (p.Leu364Glufs)
|
deletion |
Pathogenic |
rs771552960
|
GRCh37 |
Chromosome 10, 72358386: 72358387 |
26 |
PRF1
|
NM_001083116.2(PRF1): c.207delC (p.Asp70Thrfs)
|
deletion |
Pathogenic |
rs786205093
|
GRCh37 |
Chromosome 10, 72360452: 72360452 |
27 |
PRF1
|
NM_001083116.2(PRF1): c.207delC (p.Asp70Thrfs)
|
deletion |
Pathogenic |
rs786205093
|
GRCh38 |
Chromosome 10, 70600696: 70600696 |
28 |
PRF1
|
NM_001083116.2(PRF1): c.1246C> T (p.Gln416Ter)
|
single nucleotide variant |
Pathogenic |
rs193302876
|
GRCh37 |
Chromosome 10, 72358231: 72358231 |
29 |
PRF1
|
NM_001083116.2(PRF1): c.1246C> T (p.Gln416Ter)
|
single nucleotide variant |
Pathogenic |
rs193302876
|
GRCh38 |
Chromosome 10, 70598475: 70598475 |
30 |
PRF1
|
NM_005041.5(PRF1): c.1337A> C (p.Gln446Pro)
|
single nucleotide variant |
Likely pathogenic |
rs751161742
|
GRCh38 |
Chromosome 10, 70598384: 70598384 |
31 |
PRF1
|
NM_005041.5(PRF1): c.1337A> C (p.Gln446Pro)
|
single nucleotide variant |
Likely pathogenic |
rs751161742
|
GRCh37 |
Chromosome 10, 72358140: 72358140 |
32 |
PRF1
|
NM_001083116.2(PRF1): c.900C> T (p.His300=)
|
single nucleotide variant |
Benign |
rs885822
|
GRCh37 |
Chromosome 10, 72358577: 72358577 |
33 |
PRF1
|
NM_001083116.2(PRF1): c.900C> T (p.His300=)
|
single nucleotide variant |
Benign |
rs885822
|
GRCh38 |
Chromosome 10, 70598821: 70598821 |
34 |
PRF1
|
NM_001083116.2(PRF1): c.807C> T (p.His269=)
|
single nucleotide variant |
Benign/Likely benign |
rs147453010
|
GRCh37 |
Chromosome 10, 72358670: 72358670 |
35 |
PRF1
|
NM_001083116.2(PRF1): c.807C> T (p.His269=)
|
single nucleotide variant |
Benign/Likely benign |
rs147453010
|
GRCh38 |
Chromosome 10, 70598914: 70598914 |
36 |
PRF1
|
NM_001083116.2(PRF1): c.726C> T (p.Cys242=)
|
single nucleotide variant |
Benign/Likely benign |
rs35329429
|
GRCh38 |
Chromosome 10, 70598995: 70598995 |
37 |
PRF1
|
NM_001083116.2(PRF1): c.726C> T (p.Cys242=)
|
single nucleotide variant |
Benign/Likely benign |
rs35329429
|
GRCh37 |
Chromosome 10, 72358751: 72358751 |
38 |
PRF1
|
NM_001083116.2(PRF1): c.630C> T (p.Pro210=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144004164
|
GRCh38 |
Chromosome 10, 70599091: 70599091 |
39 |
PRF1
|
NM_001083116.2(PRF1): c.630C> T (p.Pro210=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs144004164
|
GRCh37 |
Chromosome 10, 72358847: 72358847 |
40 |
PRF1
|
NM_001083116.2(PRF1): c.528C> T (p.Cys176=)
|
single nucleotide variant |
Benign/Likely benign |
rs138588977
|
GRCh38 |
Chromosome 10, 70600375: 70600375 |
41 |
PRF1
|
NM_001083116.2(PRF1): c.528C> T (p.Cys176=)
|
single nucleotide variant |
Benign/Likely benign |
rs138588977
|
GRCh37 |
Chromosome 10, 72360131: 72360131 |
42 |
PRF1
|
NM_001083116.2(PRF1): c.462A> G (p.Ala154=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116554195
|
GRCh38 |
Chromosome 10, 70600441: 70600441 |
43 |
PRF1
|
NM_001083116.2(PRF1): c.462A> G (p.Ala154=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116554195
|
GRCh37 |
Chromosome 10, 72360197: 72360197 |
44 |
PRF1
|
NM_001083116.2(PRF1): c.435G> A (p.Val145=)
|
single nucleotide variant |
Benign |
rs115281140
|
GRCh37 |
Chromosome 10, 72360224: 72360224 |
45 |
PRF1
|
NM_001083116.2(PRF1): c.435G> A (p.Val145=)
|
single nucleotide variant |
Benign |
rs115281140
|
GRCh38 |
Chromosome 10, 70600468: 70600468 |
46 |
PRF1
|
NM_001083116.2(PRF1): c.666C> A (p.His222Gln)
|
single nucleotide variant |
Pathogenic |
rs751247865
|
GRCh37 |
Chromosome 10, 72358811: 72358811 |
47 |
PRF1
|
NM_001083116.2(PRF1): c.666C> A (p.His222Gln)
|
single nucleotide variant |
Pathogenic |
rs751247865
|
GRCh38 |
Chromosome 10, 70599055: 70599055 |
48 |
PRF1
|
NM_001083116.2(PRF1): c.1310C> T (p.Ala437Val)
|
single nucleotide variant |
Uncertain significance |
rs138126912
|
GRCh37 |
Chromosome 10, 72358167: 72358167 |
49 |
PRF1
|
NM_001083116.2(PRF1): c.1310C> T (p.Ala437Val)
|
single nucleotide variant |
Uncertain significance |
rs138126912
|
GRCh38 |
Chromosome 10, 70598411: 70598411 |
50 |
PRF1
|
NM_001083116.2(PRF1): c.1120T> G (p.Trp374Gly)
|
single nucleotide variant |
Likely pathogenic |
rs1060499556
|
GRCh37 |
Chromosome 10, 72358357: 72358357 |