| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378507del | CA265860608 | SERPINA1 | c.1200del (p.Glu400AspfsTer14) c.*499del (n.*499del) | dbSNP |
| 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) | |
| 14 | g.94378508C>T | CA390847491 | SERPINA1 | c.1198G>A (p.Glu400Lys) c.*497G>A (n.*497G>A) | gnomAD v4 |
| 14 | g.94378509A>C | CA390847492 | SERPINA1 | c.1197T>G (p.Ile399Met) c.*496T>G (n.*496T>G) | |
| 14 | g.94378509A>G | CA487621112 | SERPINA1 | c.1197T>C (p.Ile399=) c.*496T>C (n.*496T>C) | gnomAD v4 |
| 14 | g.94378509A>T | CA487621113 | SERPINA1 | c.1197T>A (p.Ile399=) c.*496T>A (n.*496T>A) | |
| 14 | g.94378510A= | CA2155953394 | SERPINA1 | c.1196T= (p.Ile399=) c.*495T= (n.*495T=) | |
| 14 | g.94378510A>C | CA390847494 | SERPINA1 | c.1196T>G (p.Ile399Ser) c.*495T>G (n.*495T>G) | |
| 14 | g.94378510A>G | CA7327253 | SERPINA1 | c.1196T>C (p.Ile399Thr) c.*495T>C (n.*495T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378510A>T | CA390847497 | SERPINA1 | c.1196T>A (p.Ile399Asn) c.*495T>A (n.*495T>A) | |
| 14 | g.94378511T>A | CA390847504 | SERPINA1 | c.1195A>T (p.Ile399Phe) c.*494A>T (n.*494A>T) | |
| 14 | g.94378511T>C | CA265860611 | SERPINA1 | c.1195A>G (p.Ile399Val) c.*494A>G (n.*494A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378511T>G | CA390847502 | SERPINA1 | c.1195A>C (p.Ile399Leu) c.*494A>C (n.*494A>C) | |
| 14 | g.94378511T= | CA2155953395 | SERPINA1 | c.1195A= (p.Ile399=) c.*494A= (n.*494A=) | |
| 14 | g.94378512_94378515del | CA2695219653 | SERPINA1 | c.1192_1195del (p.Met398LeufsTer15) c.*491_*494del (n.*491_*494del) | |
| 14 | g.94378512C>A | CA390847507 | SERPINA1 | c.1194G>T (p.Met398Ile) c.*493G>T (n.*493G>T) | |
| 14 | g.94378512C= | CA2155953396 | SERPINA1 | c.1194G= (p.Met398=) c.*493G= (n.*493G=) | |
| 14 | g.94378512C>G | CA390847509 | SERPINA1 | c.1194G>C (p.Met398Ile) c.*493G>C (n.*493G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378512C>T | CA390847511 | SERPINA1 | c.1194G>A (p.Met398Ile) c.*493G>A (n.*493G>A) | gnomAD v4 COSMIC |
| 14 | g.94378513A>C | CA390847514 | SERPINA1 | c.1193T>G (p.Met398Arg) c.*492T>G (n.*492T>G) | |
| 14 | g.94378513A>G | CA390847517 | SERPINA1 | c.1193T>C (p.Met398Thr) c.*492T>C (n.*492T>C) | |
| 14 | g.94378513A>T | CA390847519 | SERPINA1 | c.1193T>A (p.Met398Lys) c.*492T>A (n.*492T>A) | |
| 14 | g.94378514T>A | CA390847522 | SERPINA1 | c.1192A>T (p.Met398Leu) c.*491A>T (n.*491A>T) | |
| 14 | g.94378514T>C | CA390847524 | SERPINA1 | c.1192A>G (p.Met398Val) c.*491A>G (n.*491A>G) | |
| 14 | g.94378514T>G | CA390847526 | SERPINA1 | c.1192A>C (p.Met398Leu) c.*491A>C (n.*491A>C) | |
| 14 | g.94378515T>A | CA390847529 | SERPINA1 | c.1191A>T (p.Leu397Phe) c.*490A>T (n.*490A>T) | |
| 14 | g.94378515T>C | CA487621114 | SERPINA1 | c.1191A>G (p.Leu397=) c.*490A>G (n.*490A>G) | dbSNP gnomAD v2 |
| 14 | g.94378515T>G | CA390847531 | SERPINA1 | c.1191A>C (p.Leu397Phe) c.*490A>C (n.*490A>C) | |
| 14 | g.94378515T= | CA2155953397 | SERPINA1 | c.1191A= (p.Leu397=) c.*490A= (n.*490A=) | |
| 14 | g.94378516A= | CA2155953398 | SERPINA1 | c.1190T= (p.Leu397=) c.*489T= (n.*489T=) | |
| 14 | g.94378516A>C | CA390847535 | SERPINA1 | c.1190T>G (p.Leu397Ter) c.*489T>G (n.*489T>G) | |
| 14 | g.94378516A>G | CA390847538 | SERPINA1 | c.1190T>C (p.Leu397Ser) c.*489T>C (n.*489T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378516A>T | CA390847533 | SERPINA1 | c.1190T>A (p.Leu397Ter) c.*489T>A (n.*489T>A) | |
| 14 | g.94378520_94378522del | CA645582230 | SERPINA1 | c.1188_1190del (p.Phe396del) c.*487_*489del (n.*487_*489del) | COSMIC |
| 14 | g.94378517A>C | CA390847542 | SERPINA1 | c.1189T>G (p.Leu397Val) c.*488T>G (n.*488T>G) | |
| 14 | g.94378517A>G | CA487621116 | SERPINA1 | c.1189T>C (p.Leu397=) c.*488T>C (n.*488T>C) | gnomAD v4 |
| 14 | g.94378517A>T | CA390847540 | SERPINA1 | c.1189T>A (p.Leu397Ile) c.*488T>A (n.*488T>A) | |
| 14 | g.94378518G>A | CA265860613 | SERPINA1 | c.1188C>T (p.Phe396=) c.*487C>T (n.*487C>T) | dbSNP |
| 14 | g.94378518G>C | CA390847545 | SERPINA1 | c.1188C>G (p.Phe396Leu) c.*487C>G (n.*487C>G) | |
| 14 | g.94378518G= | CA2155953399 | SERPINA1 | c.1188C= (p.Phe396=) c.*487C= (n.*487C=) | |
| 14 | g.94378518G>T | CA390847546 | SERPINA1 | c.1188C>A (p.Phe396Leu) c.*487C>A (n.*487C>A) | |
| 14 | g.94378519A>C | CA390847547 | SERPINA1 | c.1187T>G (p.Phe396Cys) c.*486T>G (n.*486T>G) | |
| 14 | g.94378519A>G | CA390847548 | SERPINA1 | c.1187T>C (p.Phe396Ser) c.*486T>C (n.*486T>C) | |
| 14 | g.94378519A>T | CA390847549 | SERPINA1 | c.1187T>A (p.Phe396Tyr) c.*486T>A (n.*486T>A) | |
| 14 | g.94378520A>C | CA390847550 | SERPINA1 | c.1186T>G (p.Phe396Val) c.*485T>G (n.*485T>G) |