Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94614674T>A | CA265879819 | SERPINA3 | c.233T>A (p.Leu78Gln) c.1196T>A n.57+2227T>A | dbSNP |
14 | g.94614674T>C | CA127755 | SERPINA3 | c.233T>C (p.Leu78Pro) c.1196T>C n.57+2227T>C | ClinVar dbSNP gnomAD v4 |
14 | g.94614674T>G | CA390853798 | SERPINA3 | c.233T>G (p.Leu78Arg) c.1196T>G n.57+2227T>G | |
14 | g.94614674T= | CA2156072179 | SERPINA3 | c.233T= (p.Leu78=) c.1196T= n.57+2227T= | |
14 | g.94614675G>A | CA265879837 | SERPINA3 | c.234G>A (p.Leu78=) c.1197G>A n.57+2228G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614675G>C | CA487843450 | SERPINA3 | c.234G>C (p.Leu78=) c.1197G>C n.57+2228G>C | |
14 | g.94614675G= | CA2156072183 | SERPINA3 | c.234G= (p.Leu78=) c.1197G= n.57+2228G= | |
14 | g.94614675G>T | CA487843451 | SERPINA3 | c.234G>T (p.Leu78=) c.1197G>T n.57+2228G>T | gnomAD v4 |
14 | g.94614676A= | CA2156072186 | SERPINA3 | c.235A= (p.Ser79=) c.1198A= n.57+2229A= | |
14 | g.94614676A>C | CA390853799 | SERPINA3 | c.235A>C (p.Ser79Arg) c.1198A>C n.57+2229A>C | |
14 | g.94614676A>G | CA265879842 | SERPINA3 | c.235A>G (p.Ser79Gly) c.1198A>G n.57+2229A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94614676A>T | CA265879847 | SERPINA3 | c.235A>T (p.Ser79Cys) c.1198A>T n.57+2229A>T | dbSNP |
14 | g.94614677G>A | CA7329704 | SERPINA3 | c.236G>A (p.Ser79Asn) c.1199G>A n.57+2230G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614677G>C | CA390853800 | SERPINA3 | c.236G>C (p.Ser79Thr) c.1199G>C n.57+2230G>C | |
14 | g.94614677G= | CA2156072188 | SERPINA3 | c.236G= (p.Ser79=) c.1199G= n.57+2230G= | |
14 | g.94614677G>T | CA390853801 | SERPINA3 | c.236G>T (p.Ser79Ile) c.1199G>T n.57+2230G>T | |
14 | g.94614678C>A | CA390853802 | SERPINA3 | c.237C>A (p.Ser79Arg) c.1200C>A n.57+2231C>A | |
14 | g.94614678C= | CA2156072191 | SERPINA3 | c.237C= (p.Ser79=) c.1200C= n.57+2231C= | |
14 | g.94614678C>G | CA390853803 | SERPINA3 | c.237C>G (p.Ser79Arg) c.1200C>G n.57+2231C>G | |
14 | g.94614678C>T | CA7329705 | SERPINA3 | c.237C>T (p.Ser79=) c.1200C>T n.57+2231C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614679A= | CA2156072193 | SERPINA3 | c.238A= (p.Ile80=) c.1201A= n.57+2232A= | |
14 | g.94614679A>C | CA390853805 | SERPINA3 | c.238A>C (p.Ile80Leu) c.1201A>C n.57+2232A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614679A>G | CA7329706 | SERPINA3 | c.238A>G (p.Ile80Val) c.1201A>G n.57+2232A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614679A>T | CA390853804 | SERPINA3 | c.238A>T (p.Ile80Phe) c.1201A>T n.57+2232A>T | dbSNP |
14 | g.94614680T>A | CA390853806 | SERPINA3 | c.239T>A (p.Ile80Asn) c.1202T>A n.57+2233T>A | |
14 | g.94614680T>C | CA390853807 | SERPINA3 | c.239T>C (p.Ile80Thr) c.1202T>C n.57+2233T>C | |
14 | g.94614680T>G | CA390853808 | SERPINA3 | c.239T>G (p.Ile80Ser) c.1202T>G n.57+2233T>G | |
14 | g.94614681C>A | CA487843460 | SERPINA3 | c.240C>A (p.Ile80=) c.1203C>A n.57+2234C>A | |
14 | g.94614681C>G | CA390853809 | SERPINA3 | c.240C>G (p.Ile80Met) c.1203C>G n.57+2234C>G | |
14 | g.94614681C>T | CA487843462 | SERPINA3 | c.240C>T (p.Ile80=) c.1203C>T n.57+2234C>T | gnomAD v4 |
14 | g.94614682T>A | CA390853812 | SERPINA3 | c.241T>A (p.Ser81Thr) c.1204T>A n.57+2235T>A | |
14 | g.94614682T>C | CA390853811 | SERPINA3 | c.241T>C (p.Ser81Pro) c.1204T>C n.57+2235T>C | dbSNP gnomAD v4 |
14 | g.94614682T>G | CA390853810 | SERPINA3 | c.241T>G (p.Ser81Ala) c.1204T>G n.57+2235T>G | |
14 | g.94614682T= | CA2156072196 | SERPINA3 | c.241T= (p.Ser81=) c.1204T= n.57+2235T= | |
14 | g.94614683C>A | CA390853813 | SERPINA3 | c.242C>A (p.Ser81Tyr) c.1205C>A n.57+2236C>A | |
14 | g.94614683C>G | CA390853814 | SERPINA3 | c.242C>G (p.Ser81Cys) c.1205C>G n.57+2236C>G | gnomAD v3 gnomAD v4 |
14 | g.94614683C>T | CA390853815 | SERPINA3 | c.242C>T (p.Ser81Phe) c.1205C>T n.57+2236C>T | |
14 | g.94614684C>A | CA487843453 | SERPINA3 | c.243C>A (p.Ser81=) c.1206C>A n.57+2237C>A | |
14 | g.94614684C= | CA2156072198 | SERPINA3 | c.243C= (p.Ser81=) c.1206C= n.57+2237C= | |
14 | g.94614684C>G | CA487843454 | SERPINA3 | c.243C>G (p.Ser81=) c.1206C>G n.57+2237C>G | |
14 | g.94614684C>T | CA487843456 | SERPINA3 | c.243C>T (p.Ser81=) c.1206C>T n.57+2237C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94614685A>C | CA390853816 | SERPINA3 | c.244A>C (p.Thr82Pro) c.1207A>C n.57+2238A>C | |
14 | g.94614685A>G | CA390853817 | SERPINA3 | c.244A>G (p.Thr82Ala) c.1207A>G n.57+2238A>G | |
14 | g.94614685A>T | CA390853818 | SERPINA3 | c.244A>T (p.Thr82Ser) c.1207A>T n.57+2238A>T | |
14 | g.94614686C>A | CA390853819 | SERPINA3 | c.245C>A (p.Thr82Asn) c.1208C>A n.57+2239C>A | |
14 | g.94614686C= | CA2156072203 | SERPINA3 | c.245C= (p.Thr82=) c.1208C= n.57+2239C= | |
14 | g.94614686C>G | CA390853821 | SERPINA3 | c.245C>G (p.Thr82Ser) c.1208C>G n.57+2239C>G | |
14 | g.94614686C>T | CA390853820 | SERPINA3 | c.245C>T (p.Thr82Ile) c.1208C>T n.57+2239C>T | dbSNP |
14 | g.94614687C>A | CA487843459 | SERPINA3 | c.246C>A (p.Thr82=) c.1209C>A n.57+2240C>A | |
14 | g.94614687C= | CA2156072205 | SERPINA3 | c.246C= (p.Thr82=) c.1209C= n.57+2240C= |