Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378617G>A | CA487621201 | SERPINA1 | c.1089C>T (p.Thr363=) c.*388C>T (n.*388C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378617G>C | CA265860682 | SERPINA1 | c.1089C>G (p.Thr363=) c.*388C>G (n.*388C>G) | dbSNP |
14 | g.94378617G= | CA2155953462 | SERPINA1 | c.1089C= (p.Thr363=) c.*388C= (n.*388C=) | |
14 | g.94378617G>T | CA487621202 | SERPINA1 | c.1089C>A (p.Thr363=) c.*388C>A (n.*388C>A) | |
14 | g.94378618G>A | CA390847814 | SERPINA1 | c.1088C>T (p.Thr363Ile) c.*387C>T (n.*387C>T) | dbSNP |
14 | g.94378618G>C | CA390847815 | SERPINA1 | c.1088C>G (p.Thr363Ser) c.*387C>G (n.*387C>G) | |
14 | g.94378618G= | CA2155953463 | SERPINA1 | c.1088C= (p.Thr363=) c.*387C= (n.*387C=) | |
14 | g.94378618G>T | CA390847816 | SERPINA1 | c.1088C>A (p.Thr363Asn) c.*387C>A (n.*387C>A) | gnomAD v4 |
14 | g.94378619T>A | CA390847817 | SERPINA1 | c.1087A>T (p.Thr363Ser) c.*386A>T (n.*386A>T) | |
14 | g.94378619T>C | CA390847818 | SERPINA1 | c.1087A>G (p.Thr363Ala) c.*386A>G (n.*386A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378619T>G | CA390847819 | SERPINA1 | c.1087A>C (p.Thr363Pro) c.*386A>C (n.*386A>C) | |
14 | g.94378619T= | CA2155953464 | SERPINA1 | c.1087A= (p.Thr363=) c.*386A= (n.*386A=) | |
14 | g.94378620C>A | CA265860684 | SERPINA1 | c.1086G>T (p.Leu362=) c.*385G>T (n.*385G>T) | dbSNP |
14 | g.94378620C= | CA2155953465 | SERPINA1 | c.1086G= (p.Leu362=) c.*385G= (n.*385G=) | |
14 | g.94378620C>G | CA487621204 | SERPINA1 | c.1086G>C (p.Leu362=) c.*385G>C (n.*385G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378620C>T | CA7327286 | SERPINA1 | c.1086G>A (p.Leu362=) c.*385G>A (n.*385G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378621A= | CA2155953466 | SERPINA1 | c.1085T= (p.Leu362=) c.*384T= (n.*384T=) | |
14 | g.94378621A>C | CA390847820 | SERPINA1 | c.1085T>G (p.Leu362Arg) c.*384T>G (n.*384T>G) | |
14 | g.94378621A>G | CA390847822 | SERPINA1 | c.1085T>C (p.Leu362Pro) c.*384T>C (n.*384T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378621A>T | CA390847821 | SERPINA1 | c.1085T>A (p.Leu362Gln) c.*384T>A (n.*384T>A) | |
14 | g.94378622G>A | CA487621207 | SERPINA1 | c.1084C>T (p.Leu362=) c.*383C>T (n.*383C>T) | |
14 | g.94378622G>C | CA390847823 | SERPINA1 | c.1084C>G (p.Leu362Val) c.*383C>G (n.*383C>G) | |
14 | g.94378622G= | CA2155953467 | SERPINA1 | c.1084C= (p.Leu362=) c.*383C= (n.*383C=) | |
14 | g.94378622G>T | CA265860686 | SERPINA1 | c.1084C>A (p.Leu362Met) c.*383C>A (n.*383C>A) | dbSNP |
14 | g.94378623del | CA2695219655 | SERPINA1 | c.1083del (p.Leu362Ter) c.*382del (n.*382del) | |
14 | g.94378623C>A | CA487621208 | SERPINA1 | c.1083G>T (p.Val361=) c.*382G>T (n.*382G>T) | ClinVar dbSNP |
14 | g.94378623C= | CA2155953468 | SERPINA1 | c.1083G= (p.Val361=) c.*382G= (n.*382G=) | |
14 | g.94378623C>G | CA487621209 | SERPINA1 | c.1083G>C (p.Val361=) c.*382G>C (n.*382G>C) | |
14 | g.94378623C>T | CA265860688 | SERPINA1 | c.1083G>A (p.Val361=) c.*382G>A (n.*382G>A) | dbSNP gnomAD v4 |
14 | g.94378624A= | CA2155953469 | SERPINA1 | c.1082T= (p.Val361=) c.*381T= (n.*381T=) | |
14 | g.94378624A>C | CA7327287 | SERPINA1 | c.1082T>G (p.Val361Gly) c.*381T>G (n.*381T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378624A>G | CA265860691 | SERPINA1 | c.1082T>C (p.Val361Ala) c.*381T>C (n.*381T>C) | dbSNP gnomAD v4 COSMIC |
14 | g.94378624A>T | CA390847824 | SERPINA1 | c.1082T>A (p.Val361Glu) c.*381T>A (n.*381T>A) | gnomAD v4 |
14 | g.94378624_94378625delinsAC | CA2155953470 | SERPINA1 | c.1081_1082delinsGT (p.Val361=) c.*380_*381delinsGT (n.*380_*381delinsGT) | |
14 | g.94378625del | CA265860692 | SERPINA1 | c.1081del (p.Val361CysfsTer2) c.*380del (n.*380del) | dbSNP |
14 | g.94378625C>A | CA390847825 | SERPINA1 | c.1081G>T (p.Val361Leu) c.*380G>T (n.*380G>T) | |
14 | g.94378625C= | CA2155953471 | SERPINA1 | c.1081G= (p.Val361=) c.*380G= (n.*380G=) | |
14 | g.94378625C>G | CA390847826 | SERPINA1 | c.1081G>C (p.Val361Leu) c.*380G>C (n.*380G>C) | |
14 | g.94378625C>T | CA390847827 | SERPINA1 | c.1081G>A (p.Val361Met) c.*380G>A (n.*380G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94378626A= | CA2155953472 | SERPINA1 | c.1080T= (p.Ala360=) c.*379T= (n.*379T=) | |
14 | g.94378626A>C | CA487621210 | SERPINA1 | c.1080T>G (p.Ala360=) c.*379T>G (n.*379T>G) | |
14 | g.94378626A>G | CA487621211 | SERPINA1 | c.1080T>C (p.Ala360=) c.*379T>C (n.*379T>C) | dbSNP |
14 | g.94378626A>T | CA487621212 | SERPINA1 | c.1080T>A (p.Ala360=) c.*379T>A (n.*379T>A) | |
14 | g.94378627G>A | CA390847828 | SERPINA1 | c.1079C>T (p.Ala360Val) c.*378C>T (n.*378C>T) | gnomAD v4 |
14 | g.94378627G>C | CA390847829 | SERPINA1 | c.1079C>G (p.Ala360Gly) c.*378C>G (n.*378C>G) | |
14 | g.94378627G= | CA2155953473 | SERPINA1 | c.1079C= (p.Ala360=) c.*378C= (n.*378C=) | |
14 | g.94378627G>T | CA7327288 | SERPINA1 | c.1079C>A (p.Ala360Asp) c.*378C>A (n.*378C>A) | dbSNP ExAC |
14 | g.94378628C>A | CA390847830 | SERPINA1 | c.1078G>T (p.Ala360Ser) c.*377G>T (n.*377G>T) | dbSNP |
14 | g.94378628C= | CA2155953474 | SERPINA1 | c.1078G= (p.Ala360=) c.*377G= (n.*377G=) | |
14 | g.94378628C>G | CA7327289 | SERPINA1 | c.1078G>C (p.Ala360Pro) c.*377G>C (n.*377G>C) | dbSNP ExAC gnomAD v4 |