| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs5030622 |
C>A,G |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs5030648 |
TCT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs5030802 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs5030804 |
A>C,G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs5030805 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs5030807 |
T>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs5030808 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs5030809 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs5030810 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs5030812 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs5030813 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs5030814 |
T>C,G |
Pathogenic, not-provided, likely-pathogenic |
Splice donor variant, intron variant |
|
rs5030816 |
A>G,T |
Pathogenic |
Splice acceptor variant |
|
rs5030817 |
G>A,C,T |
Pathogenic |
Splice acceptor variant |
|
rs5030818 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs5030819 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs5030820 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs5030821 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs5030822 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs5030823 |
C>A,G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs5030824 |
C>G |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs5030825 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 3 prime UTR variant |
|
rs5030826 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs5030827 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs5030828 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs5030829 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant |
|
rs5030830 |
T>C,G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs5030832 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs5030833 |
T>C,G |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
|
rs5030834 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs5030835 |
C>G,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, 3 prime UTR variant, synonymous variant |
|
rs28940297 |
T>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs28940298 |
C>T |
Likely-benign, uncertain-significance, pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs28940300 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs28940301 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs63650860 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, synonymous variant |
|
rs73024533 |
T>C |
Pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs104893824 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104893825 |
G>T |
Pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs104893826 |
G>A,C |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs104893827 |
T>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs104893829 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs104893830 |
G>C,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, coding sequence variant |
|
rs104893831 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant |
|
rs119103277 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs119103278 |
A>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs121913346 |
T>A,C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs143985153 |
A>C,G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs193922608 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs193922609 |
G>A,C |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs193922610 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs193922611 |
T>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
|
rs193922613 |
A>G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, 3 prime UTR variant |
|
rs199583685 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs200019083 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant, 3 prime UTR variant |
|
rs200885420 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs267607170 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs281860296 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs367545984 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, 3 prime UTR variant, missense variant |
|
rs397516440 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs397516441 |
A>G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs397516442 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs397516444 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs397516445 |
T>A,C,G |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs398123481 |
C>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs398123482 |
T>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs398123483 |
->TTGTCCGT |
Pathogenic |
Coding sequence variant, 3 prime UTR variant, frameshift variant |
|
rs587780077 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant |
|
rs727503744 |
CGCACGCAGCTCCGCCCCGCG>- |
Likely-pathogenic |
5 prime UTR variant, upstream transcript variant |
|
rs727504215 |
G>A,T |
Pathogenic |
Stop gained, intron variant, coding sequence variant, missense variant |
|
rs730882020 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant, 3 prime UTR variant |
|
rs730882030 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant, 3 prime UTR variant |
|
rs730882031 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs730882032 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs730882034 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs730882035 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs730882037 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs730882039 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs749704215 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, intron variant, missense variant |
|
rs751232153 |
C>G,T |
Likely-benign, likely-pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs759737367 |
C>A,G,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant |
|
rs765978945 |
C>G,T |
Likely-pathogenic, likely-benign, pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs780178275 |
C>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs786202787 |
A>C,G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794726890 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs794727253 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs794729660 |
ATC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs864321640 |
->A |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs864321641 |
A>T |
Likely-pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs864321642 |
T>A,C |
Pathogenic, likely-pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs864321643 |
A>C,G |
Uncertain-significance, pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs864622109 |
C>G,T |
Likely-benign, pathogenic |
3 prime UTR variant, stop gained, coding sequence variant, synonymous variant |
|
rs864622545 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs864622646 |
C>A,G,T |
Likely-benign, pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant, synonymous variant |
|
rs869025615 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025616 |
T>C,G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025617 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
|
rs869025618 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025619 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
|
rs869025620 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025621 |
A>C,G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025622 |
G>C,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs869025623 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025624 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869025625 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025626 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025627 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025628 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025629 |
GCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAGG>- |
Likely-pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs869025630 |
G>C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs869025631 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs869025632 |
ACCGAGGTACG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs869025634 |
TACGG>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs869025636 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs869025637 |
A>G |
Pathogenic |
Splice acceptor variant, intron variant |
|
rs869025638 |
G>- |
Pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
|
rs869025640 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025641 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025642 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs869025643 |
A>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs869025644 |
AC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025645 |
GC>TT |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs869025646 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025647 |
GCGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025648 |
A>G |
Pathogenic-likely-pathogenic, pathogenic |
Intron variant, coding sequence variant, synonymous variant |
|
rs869025649 |
TC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025650 |
G>A,C,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, intron variant, stop gained, coding sequence variant |
|
rs869025651 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025652 |
GC>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025653 |
T>-,TT |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs869025655 |
T>C,G |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs869025656 |
ACACTGCCAGGTACTGACGTTTTACTT>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs869025657 |
G>A,C |
Pathogenic |
Splice donor variant, intron variant |
|
rs869025659 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, intron variant, coding sequence variant |
|
rs869025660 |
C>T |
Pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs869025661 |
->T |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs869025663 |
GTCCGGAGCCT>- |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs869025664 |
CGTC>- |
Pathogenic, uncertain-significance |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs869025666 |
->AAGA |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs869025667 |
T>C |
Likely-pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs869025668 |
G>T |
Likely-pathogenic |
Stop lost, 3 prime UTR variant, terminator codon variant |
|
rs879253989 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs886041345 |
->AGGCCGGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060503552 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064793878 |
T>C |
Pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1064794037 |
GATGC>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1064794272 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
|
rs1064796408 |
GGCCCGTGCTGCGC>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131690954 |
A>G |
Pathogenic, uncertain-significance |
Intron variant |
|
rs1131690955 |
->A |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs1131690956 |
A>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs1131690958 |
->C |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1131690959 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131690960 |
->GGC |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
|
rs1131690961 |
A>C |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1131690962 |
T>C |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1131690963 |
T>G |
Likely-pathogenic, uncertain-significance |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1131690964 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131690965 |
T>G |
Likely-pathogenic, uncertain-significance |
Intron variant |
|
rs1131691526 |
->GG |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs1346312258 |
T>C |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1347416980 |
A>C,G |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1352275281 |
G>C,T |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1399097617 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553619402 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553619415 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553619431 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553619440 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs1553619461 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553619923 |
->TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA |
Uncertain-significance, likely-pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
|
rs1553619948 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553619952 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1553619957 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1553619963 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553619976 |
->A |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1553620305 |
GAA>C |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1553620312 |
->ATGCCTCCAGGTTGTCCG |
Uncertain-significance, likely-pathogenic |
Inframe insertion, 3 prime UTR variant, coding sequence variant |
|
rs1553620313 |
T>C |
Pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1553620318 |
C>T |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1553620326 |
G>A,C |
Uncertain-significance, likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1553620331 |
ACTGGACATCGT>TC |
Pathogenic, likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1553620362 |
GA>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1559425911 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1559425925 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559425951 |
GTCCGCGCGTCGTGCTGCCCGTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559426047 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559426072 |
GC>TT |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1559426095 |
TACC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559426115 |
C>G,T |
Likely-benign, pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs1559426145 |
->CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559426199 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559426203 |
A>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1559428051 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428056 |
G>A |
Pathogenic |
Stop gained, intron variant, coding sequence variant |
|
rs1559428077 |
C>G |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1559428091 |
A>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1559428107 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428128 |
->CC |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428134 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428164 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428180 |
TCAATGTTG>ACAATTATTTGTGCCATCTCTCAA |
Likely-pathogenic |
Inframe indel, intron variant, coding sequence variant |
|
rs1559428217 |
CAGCCTA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428232 |
->G |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559428267 |
A>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1559429613 |
C>G |
Pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1559429711 |
A>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1559429717 |
A>T |
Pathogenic |
3 prime UTR variant, stop gained, coding sequence variant |
|
rs1559429736 |
TG>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1559429778 |
T>- |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1559429824 |
T>A,C |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1559429829 |
G>- |
Likely-pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs1559430011 |
A>G,T |
Likely-pathogenic |
Stop lost, 3 prime UTR variant, terminator codon variant |
|
rs1575922271 |
CTACCC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1575922562 |
AGGTACG>- |
Pathogenic |
Intron variant, splice donor variant, coding sequence variant |
|
rs1575923261 |
C>G |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1575923363 |
->AAGAGCCGACCGTGTGTG |
Pathogenic |
Intron variant, coding sequence variant, stop gained |
|
rs1575927648 |
G>A |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1575927767 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1575932011 |
A>G |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs1575932228 |
G>T |
Pathogenic |
3 prime UTR variant, coding sequence variant, stop gained |
|
rs1575932266 |
GACTGGA>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1575932781 |
T>A |
Uncertain-significance, likely-pathogenic |
3 prime UTR variant, stop lost, terminator codon variant |