Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380957G>A | CA487840989 | SERPINA1 | c.831C>T (p.Phe277=) | gnomAD v4 COSMIC |
14 | g.94380957G>C | CA390848487 | SERPINA1 | c.831C>G (p.Phe277Leu) | |
14 | g.94380957G>T | CA390848488 | SERPINA1 | c.831C>A (p.Phe277Leu) | |
14 | g.94380962_94380964del | CA2626309433 | SERPINA1 | c.829_831del (p.Phe277del) | gnomAD v4 |
14 | g.94380958A>C | CA390848489 | SERPINA1 | c.830T>G (p.Phe277Cys) | |
14 | g.94380958A>G | CA390848492 | SERPINA1 | c.830T>C (p.Phe277Ser) | |
14 | g.94380958A>T | CA390848490 | SERPINA1 | c.830T>A (p.Phe277Tyr) | |
14 | g.94380959A>C | CA390848494 | SERPINA1 | c.829T>G (p.Phe277Val) | |
14 | g.94380959A>G | CA390848496 | SERPINA1 | c.829T>C (p.Phe277Leu) | |
14 | g.94380959A>T | CA390848497 | SERPINA1 | c.829T>A (p.Phe277Ile) | |
14 | g.94380960G>A | CA487840990 | SERPINA1 | c.828C>T (p.Phe276=) | ClinVar dbSNP COSMIC |
14 | g.94380960G>C | CA390848499 | SERPINA1 | c.828C>G (p.Phe276Leu) | |
14 | g.94380960G= | CA2155953880 | SERPINA1 | c.828C= (p.Phe276=) | |
14 | g.94380960G>T | CA390848501 | SERPINA1 | c.828C>A (p.Phe276Leu) | dbSNP |
14 | g.94380961A>C | CA390848502 | SERPINA1 | c.827T>G (p.Phe276Cys) | |
14 | g.94380961A>G | CA390848503 | SERPINA1 | c.827T>C (p.Phe276Ser) | |
14 | g.94380961A>T | CA390848504 | SERPINA1 | c.827T>A (p.Phe276Tyr) | |
14 | g.94380962A>C | CA390848506 | SERPINA1 | c.826T>G (p.Phe276Val) | |
14 | g.94380962A>G | CA390848508 | SERPINA1 | c.826T>C (p.Phe276Leu) | |
14 | g.94380962A>T | CA390848509 | SERPINA1 | c.826T>A (p.Phe276Ile) | |
14 | g.94380963G>A | CA487840992 | SERPINA1 | c.825C>T (p.Ile275=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380963G>C | CA390848510 | SERPINA1 | c.825C>G (p.Ile275Met) | |
14 | g.94380963G= | CA2155953881 | SERPINA1 | c.825C= (p.Ile275=) | |
14 | g.94380963G>T | CA487840991 | SERPINA1 | c.825C>A (p.Ile275=) | |
14 | g.94380964A>C | CA390848515 | SERPINA1 | c.824T>G (p.Ile275Ser) | |
14 | g.94380964A>G | CA390848514 | SERPINA1 | c.824T>C (p.Ile275Thr) | gnomAD v4 |
14 | g.94380964A>T | CA390848512 | SERPINA1 | c.824T>A (p.Ile275Asn) | |
14 | g.94380965T>A | CA390848517 | SERPINA1 | c.823A>T (p.Ile275Phe) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380965T>C | CA390848518 | SERPINA1 | c.823A>G (p.Ile275Val) | |
14 | g.94380965T>G | CA390848520 | SERPINA1 | c.823A>C (p.Ile275Leu) | |
14 | g.94380965T= | CA2155953882 | SERPINA1 | c.823A= (p.Ile275=) | |
14 | g.94380966G>A | CA7327397 | SERPINA1 | c.822C>T (p.Ala274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380966G>C | CA487840993 | SERPINA1 | c.822C>G (p.Ala274=) | |
14 | g.94380966G= | CA2155953883 | SERPINA1 | c.822C= (p.Ala274=) | |
14 | g.94380966G>T | CA487840994 | SERPINA1 | c.822C>A (p.Ala274=) | |
14 | g.94380967G>A | CA390848522 | SERPINA1 | c.821C>T (p.Ala274Val) | |
14 | g.94380967G>C | CA390848523 | SERPINA1 | c.821C>G (p.Ala274Gly) | |
14 | g.94380967G>T | CA390848525 | SERPINA1 | c.821C>A (p.Ala274Asp) | |
14 | g.94380968C>A | CA7327399 | SERPINA1 | c.820G>T (p.Ala274Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380968C= | CA2155953884 | SERPINA1 | c.820G= (p.Ala274=) | |
14 | g.94380968C>G | CA390848528 | SERPINA1 | c.820G>C (p.Ala274Pro) | |
14 | g.94380968C>T | CA7327398 | SERPINA1 | c.820G>A (p.Ala274Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380969G>A | CA7327400 | SERPINA1 | c.819C>T (p.Thr273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380969G>C | CA7327401 | SERPINA1 | c.819C>G (p.Thr273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380969G= | CA2155953885 | SERPINA1 | c.819C= (p.Thr273=) | |
14 | g.94380969G>T | CA487840995 | SERPINA1 | c.819C>A (p.Thr273=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380970G>A | CA390848532 | SERPINA1 | c.818C>T (p.Thr273Ile) | |
14 | g.94380970G>C | CA390848534 | SERPINA1 | c.818C>G (p.Thr273Ser) | gnomAD v4 |
14 | g.94380970G>T | CA390848533 | SERPINA1 | c.818C>A (p.Thr273Asn) | |
14 | g.94380971T>A | CA390848536 | SERPINA1 | c.817A>T (p.Thr273Ser) |