SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894668 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
rs104894670 |
C>T |
Benign, pathogenic |
Coding sequence variant, missense variant |
rs137853143 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
rs137853144 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs137853145 |
G>A,C,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant, stop gained |
rs137853926 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs137853927 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137853928 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853929 |
CCGCCGCGCGGATTGGGCGGCGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853930 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs137853931 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs137853932 |
C>T |
Pathogenic |
Splice donor variant |
rs137853933 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant |
rs146027258 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs367543004 |
GTCCACCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs748847434 |
C>G,T |
Pathogenic |
Intron variant |
rs761746361 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs768727082 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886041972 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1555758035 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1600650861 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1600651228 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |