Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.86809827C>TCA2997134PTPN13,SLC10A6c.7142C>T (p.Thr2381Ile)
c.6569C>T (p.Thr2190Ile)
c.7085C>T (p.Thr2362Ile)
c.7157C>T (p.Thr2386Ile)
c.7160C>T (p.Thr2387Ile)
c.1038+13957G>A (n.1038+13957G>A)
c.7226C>T (p.Thr2409Ile)
c.7211C>T (p.Thr2404Ile)
c.7208C>T (p.Thr2403Ile)
c.7175C>T (p.Thr2392Ile)
c.7169C>T (p.Thr2390Ile)
c.7127C>T (p.Thr2376Ile)
c.7103C>T (p.Thr2368Ile)
c.6665C>T (p.Thr2222Ile)
c.6653C>T (p.Thr2218Ile)
c.6587C>T (p.Thr2196Ile)
c.7193C>T (p.Thr2398Ile)
c.7151C>T (p.Thr2384Ile)
c.7136C>T (p.Thr2379Ile)
c.7100C>T (p.Thr2367Ile)
c.6647C>T (p.Thr2216Ile)
c.6635C>T (p.Thr2212Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.86809827C>ACA2997135PTPN13,SLC10A6c.7142C>A (p.Thr2381Lys)
c.6569C>A (p.Thr2190Lys)
c.7085C>A (p.Thr2362Lys)
c.7157C>A (p.Thr2386Lys)
c.7160C>A (p.Thr2387Lys)
c.1038+13957G>T (n.1038+13957G>T)
c.7226C>A (p.Thr2409Lys)
c.7211C>A (p.Thr2404Lys)
c.7208C>A (p.Thr2403Lys)
c.7175C>A (p.Thr2392Lys)
c.7169C>A (p.Thr2390Lys)
c.7127C>A (p.Thr2376Lys)
c.7103C>A (p.Thr2368Lys)
c.6665C>A (p.Thr2222Lys)
c.6653C>A (p.Thr2218Lys)
c.6587C>A (p.Thr2196Lys)
c.7193C>A (p.Thr2398Lys)
c.7151C>A (p.Thr2384Lys)
c.7136C>A (p.Thr2379Lys)
c.7100C>A (p.Thr2367Lys)
c.6647C>A (p.Thr2216Lys)
c.6635C>A (p.Thr2212Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.86809827C=CA1474016198PTPN13,SLC10A6c.7142C= (p.Thr2381=)
c.6569C= (p.Thr2190=)
c.7085C= (p.Thr2362=)
c.7157C= (p.Thr2386=)
c.7160C= (p.Thr2387=)
c.1038+13957G= (n.1038+13957G=)
c.7226C= (p.Thr2409=)
c.7211C= (p.Thr2404=)
c.7208C= (p.Thr2403=)
c.7175C= (p.Thr2392=)
c.7169C= (p.Thr2390=)
c.7127C= (p.Thr2376=)
c.7103C= (p.Thr2368=)
c.6665C= (p.Thr2222=)
c.6653C= (p.Thr2218=)
c.6587C= (p.Thr2196=)
c.7193C= (p.Thr2398=)
c.7151C= (p.Thr2384=)
c.7136C= (p.Thr2379=)
c.7100C= (p.Thr2367=)
c.6647C= (p.Thr2216=)
c.6635C= (p.Thr2212=)
dbSNP

Number of alleles fetched