| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs587777522 |
AATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587777523 |
TTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587777524 |
G>A,C,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs587777525 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587777526 |
G>A,C,T |
Likely-benign, pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs779340209 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886039649 |
GTA>ACAG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041116 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs886041449 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041498 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041722 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886041741 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042001 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886042003 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042026 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518345 |
ACTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518978 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518991 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1064793677 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796339 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796656 |
C>G,T |
Uncertain-significance, pathogenic |
Splice acceptor variant |
|
rs1131691281 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1131691770 |
A>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1135401791 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1135401808 |
->T |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs1555809337 |
->A |
Likely-pathogenic |
Terminator codon variant, stop lost, frameshift variant |
|
rs1555809836 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555809919 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555809953 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555809957 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555809984 |
AACT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555809987 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810001 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810093 |
TTGAAAAGCAAAGAGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810163 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810193 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810308 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555810335 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810376 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810401 |
GG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555810794 |
GGTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555812474 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600930118 |
CGT>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs1600930164 |
G>- |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1600932676 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600934347 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1600956591 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |