Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
14 | g.94378497G>A | CA487621107 | SERPINA1 | c.1209C>T (p.Thr403=) c.*508C>T (n.*508C>T) | |
14 | g.94378497G>C | CA487621108 | SERPINA1 | c.1209C>G (p.Thr403=) c.*508C>G (n.*508C>G) | |
14 | g.94378497G>T | CA487621109 | SERPINA1 | c.1209C>A (p.Thr403=) c.*508C>A (n.*508C>A) | gnomAD v4 |
14 | g.94378498G>A | CA350154 | SERPINA1 | c.1208C>T (p.Thr403Ile) c.*507C>T (n.*507C>T) | ClinVar dbSNP gnomAD v4 |
14 | g.94378498G>C | CA7327251 | SERPINA1 | c.1208C>G (p.Thr403Ser) c.*507C>G (n.*507C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94378498G= | CA2155953384 | SERPINA1 | c.1208C= (p.Thr403=) c.*507C= (n.*507C=) | |
14 | g.94378498G>T | CA390847425 | SERPINA1 | c.1208C>A (p.Thr403Asn) c.*507C>A (n.*507C>A) | dbSNP |
14 | g.94378499T>A | CA390847428 | SERPINA1 | c.1207A>T (p.Thr403Ser) c.*506A>T (n.*506A>T) | |
14 | g.94378499T>C | CA390847430 | SERPINA1 | c.1207A>G (p.Thr403Ala) c.*506A>G (n.*506A>G) | dbSNP gnomAD v4 |
14 | g.94378499T>G | CA390847432 | SERPINA1 | c.1207A>C (p.Thr403Pro) c.*506A>C (n.*506A>C) | |
14 | g.94378499T= | CA2155953385 | SERPINA1 | c.1207A= (p.Thr403=) c.*506A= (n.*506A=) | |
14 | g.94378500A= | CA2155953387 | SERPINA1 | c.1206T= (p.Asn402=) c.*505T= (n.*505T=) | |
14 | g.94378500A>C | CA390847435 | SERPINA1 | c.1206T>G (p.Asn402Lys) c.*505T>G (n.*505T>G) | |
14 | g.94378500A>G | CA7327252 | SERPINA1 | c.1206T>C (p.Asn402=) c.*505T>C (n.*505T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378500A>T | CA390847437 | SERPINA1 | c.1206T>A (p.Asn402Lys) c.*505T>A (n.*505T>A) | |
14 | g.94378500_94378501delinsAT | CA2155953386 | SERPINA1 | c.1205_1206delinsAT (p.Asn402=) c.*504_*505delinsAT (n.*504_*505delinsAT) | |
14 | g.94378501T>A | CA390847442 | SERPINA1 | c.1205A>T (p.Asn402Ile) c.*504A>T (n.*504A>T) | |
14 | g.94378501T>C | CA390847445 | SERPINA1 | c.1205A>G (p.Asn402Ser) c.*504A>G (n.*504A>G) | |
14 | g.94378501T>G | CA390847447 | SERPINA1 | c.1205A>C (p.Asn402Thr) c.*504A>C (n.*504A>C) | |
14 | g.94378504del | CA616114972 | SERPINA1 | c.1205del (p.Asn402IlefsTer12) c.*504del (n.*504del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378502T>A | CA390847449 | SERPINA1 | c.1204A>T (p.Asn402Tyr) c.*503A>T (n.*503A>T) | |
14 | g.94378502T>C | CA390847452 | SERPINA1 | c.1204A>G (p.Asn402Asp) c.*503A>G (n.*503A>G) | |
14 | g.94378502T>G | CA390847454 | SERPINA1 | c.1204A>C (p.Asn402His) c.*503A>C (n.*503A>C) | |
14 | g.94378503T>A | CA390847457 | SERPINA1 | c.1203A>T (p.Gln401His) c.*502A>T (n.*502A>T) | |
14 | g.94378503T>C | CA487621110 | SERPINA1 | c.1203A>G (p.Gln401=) c.*502A>G (n.*502A>G) | |
14 | g.94378503T>G | CA390847459 | SERPINA1 | c.1203A>C (p.Gln401His) c.*502A>C (n.*502A>C) | |
14 | g.94378504T>A | CA390847462 | SERPINA1 | c.1202A>T (p.Gln401Leu) c.*501A>T (n.*501A>T) | |
14 | g.94378504T>C | CA390847464 | SERPINA1 | c.1202A>G (p.Gln401Arg) c.*501A>G (n.*501A>G) | gnomAD v4 |
14 | g.94378504T>G | CA390847466 | SERPINA1 | c.1202A>C (p.Gln401Pro) c.*501A>C (n.*501A>C) | dbSNP |
14 | g.94378504T= | CA2155953389 | SERPINA1 | c.1202A= (p.Gln401=) c.*501A= (n.*501A=) | |
14 | g.94378504_94378505delinsTG | CA2155953388 | SERPINA1 | c.1201_1202delinsCA (p.Gln401=) c.*500_*501delinsCA (n.*500_*501delinsCA) | |
14 | g.94378505del | CA265860605 | SERPINA1 | c.1201del (p.Gln401LysfsTer13) c.*500del (n.*500del) | dbSNP |
14 | g.94378505G>A | CA390847470 | SERPINA1 | c.1201C>T (p.Gln401Ter) c.*500C>T (n.*500C>T) | |
14 | g.94378505G>C | CA390847473 | SERPINA1 | c.1201C>G (p.Gln401Glu) c.*500C>G (n.*500C>G) | |
14 | g.94378505G= | CA2155953390 | SERPINA1 | c.1201C= (p.Gln401=) c.*500C= (n.*500C=) | |
14 | g.94378505G>T | CA265860607 | SERPINA1 | c.1201C>A (p.Gln401Lys) c.*500C>A (n.*500C>A) | dbSNP |
14 | g.94378505_94378506delinsGT | CA2155953391 | SERPINA1 | c.1200_1201delinsAC (p.Glu400=) c.*499_*500delinsAC (n.*499_*500delinsAC) | |
14 | g.94378506T>A | CA390847475 | SERPINA1 | c.1200A>T (p.Glu400Asp) c.*499A>T (n.*499A>T) | |
14 | g.94378506T>C | CA487621111 | SERPINA1 | c.1200A>G (p.Glu400=) c.*499A>G (n.*499A>G) | dbSNP |
14 | g.94378506T>G | CA127624 | SERPINA1 | c.1200A>C (p.Glu400Asp) c.*499A>C (n.*499A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378506T= | CA2155953392 | SERPINA1 | c.1200A= (p.Glu400=) c.*499A= (n.*499A=) | |
14 | g.94378507del | CA265860608 | SERPINA1 | c.1200del (p.Glu400AspfsTer14) c.*499del (n.*499del) | dbSNP |
14 | g.94378506_94378507insG | CA616114973 | SERPINA1 | c.1199_1200insC (p.Glu400AspfsTer?) c.*498_*499insC (n.*498_*499insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378507T>A | CA390847479 | SERPINA1 | c.1199A>T (p.Glu400Val) c.*498A>T (n.*498A>T) | |
14 | g.94378507T>C | CA390847482 | SERPINA1 | c.1199A>G (p.Glu400Gly) c.*498A>G (n.*498A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378507T>G | CA390847484 | SERPINA1 | c.1199A>C (p.Glu400Ala) c.*498A>C (n.*498A>C) | gnomAD v4 |
14 | g.94378507T= | CA2155953393 | SERPINA1 | c.1199A= (p.Glu400=) c.*498A= (n.*498A=) | |
14 | g.94378508C>A | CA390847487 | SERPINA1 | c.1198G>T (p.Glu400Ter) c.*497G>T (n.*497G>T) | |
14 | g.94378508C>G | CA390847489 | SERPINA1 | c.1198G>C (p.Glu400Gln) c.*497G>C (n.*497G>C) |