Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382729T>A | CA390849589 | SERPINA1 | c.509A>T (p.Asn170Ile) c.251A>T (p.Asn84Ile) | |
14 | g.94382729T>C | CA390849591 | SERPINA1 | c.509A>G (p.Asn170Ser) c.251A>G (p.Asn84Ser) | |
14 | g.94382729T>G | CA390849590 | SERPINA1 | c.509A>C (p.Asn170Thr) c.251A>C (p.Asn84Thr) | COSMIC |
14 | g.94382730T>A | CA390849592 | SERPINA1 | c.508A>T (p.Asn170Tyr) c.250A>T (p.Asn84Tyr) | |
14 | g.94382730T>C | CA390849594 | SERPINA1 | c.508A>G (p.Asn170Asp) c.250A>G (p.Asn84Asp) | |
14 | g.94382730T>G | CA390849593 | SERPINA1 | c.508A>C (p.Asn170His) c.250A>C (p.Asn84His) | gnomAD v4 |
14 | g.94382731G>A | CA487622041 | SERPINA1 | c.507C>T (p.Val169=) c.249C>T (p.Val83=) | |
14 | g.94382731G>C | CA487622042 | SERPINA1 | c.507C>G (p.Val169=) c.249C>G (p.Val83=) | |
14 | g.94382731G>T | CA487622043 | SERPINA1 | c.507C>A (p.Val169=) c.249C>A (p.Val83=) | |
14 | g.94382732A>C | CA390849595 | SERPINA1 | c.506T>G (p.Val169Gly) c.248T>G (p.Val83Gly) | |
14 | g.94382732A>G | CA390849597 | SERPINA1 | c.506T>C (p.Val169Ala) c.248T>C (p.Val83Ala) | |
14 | g.94382732A>T | CA390849596 | SERPINA1 | c.506T>A (p.Val169Asp) c.248T>A (p.Val83Asp) | gnomAD v4 |
14 | g.94382733C>A | CA390849598 | SERPINA1 | c.505G>T (p.Val169Phe) c.247G>T (p.Val83Phe) | |
14 | g.94382733C= | CA2155954754 | SERPINA1 | c.505G= (p.Val169=) c.247G= (p.Val83=) | |
14 | g.94382733C>G | CA390849600 | SERPINA1 | c.505G>C (p.Val169Leu) c.247G>C (p.Val83Leu) | |
14 | g.94382733C>T | CA390849599 | SERPINA1 | c.505G>A (p.Val169Ile) c.247G>A (p.Val83Ile) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382734A>C | CA487622044 | SERPINA1 | c.504T>G (p.Thr168=) c.246T>G (p.Thr82=) | |
14 | g.94382734A>G | CA487622046 | SERPINA1 | c.504T>C (p.Thr168=) c.246T>C (p.Thr82=) | |
14 | g.94382734A>T | CA487622045 | SERPINA1 | c.504T>A (p.Thr168=) c.246T>A (p.Thr82=) | |
14 | g.94382735G>A | CA390849601 | SERPINA1 | c.503C>T (p.Thr168Ile) c.245C>T (p.Thr82Ile) | |
14 | g.94382735G>C | CA390849602 | SERPINA1 | c.503C>G (p.Thr168Ser) c.245C>G (p.Thr82Ser) | |
14 | g.94382735G>T | CA390849603 | SERPINA1 | c.503C>A (p.Thr168Asn) c.245C>A (p.Thr82Asn) | |
14 | g.94382736T>A | CA390849604 | SERPINA1 | c.502A>T (p.Thr168Ser) c.244A>T (p.Thr82Ser) | |
14 | g.94382736T>C | CA7327483 | SERPINA1 | c.502A>G (p.Thr168Ala) c.244A>G (p.Thr82Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382736T>G | CA390849605 | SERPINA1 | c.502A>C (p.Thr168Pro) c.244A>C (p.Thr82Pro) | |
14 | g.94382736T= | CA2155954755 | SERPINA1 | c.502A= (p.Thr168=) c.244A= (p.Thr82=) | |
14 | g.94382737G>A | CA487622047 | SERPINA1 | c.501C>T (p.Phe167=) c.243C>T (p.Phe81=) | |
14 | g.94382737G>C | CA390849606 | SERPINA1 | c.501C>G (p.Phe167Leu) c.243C>G (p.Phe81Leu) | |
14 | g.94382737G>T | CA390849607 | SERPINA1 | c.501C>A (p.Phe167Leu) c.243C>A (p.Phe81Leu) | |
14 | g.94382738A>C | CA390849608 | SERPINA1 | c.500T>G (p.Phe167Cys) c.242T>G (p.Phe81Cys) | |
14 | g.94382738A>G | CA390849610 | SERPINA1 | c.500T>C (p.Phe167Ser) c.242T>C (p.Phe81Ser) | |
14 | g.94382738A>T | CA390849609 | SERPINA1 | c.500T>A (p.Phe167Tyr) c.242T>A (p.Phe81Tyr) | |
14 | g.94382739A>C | CA390849611 | SERPINA1 | c.499T>G (p.Phe167Val) c.241T>G (p.Phe81Val) | |
14 | g.94382739A>G | CA390849612 | SERPINA1 | c.499T>C (p.Phe167Leu) c.241T>C (p.Phe81Leu) | gnomAD v4 |
14 | g.94382739A>T | CA390849613 | SERPINA1 | c.499T>A (p.Phe167Ile) c.241T>A (p.Phe81Ile) | |
14 | g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATC | CA2155954756 | SERPINA1 | c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=) c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=) | |
14 | g.94382740G>A | CA487622048 | SERPINA1 | c.498C>T (p.Ala166=) c.240C>T (p.Ala80=) | gnomAD v4 |
14 | g.94382740G>C | CA487622049 | SERPINA1 | c.498C>G (p.Ala166=) c.240C>G (p.Ala80=) | |
14 | g.94382740G>T | CA487622050 | SERPINA1 | c.498C>A (p.Ala166=) c.240C>A (p.Ala80=) | |
14 | g.94382740_94382769del | CA7327484 | SERPINA1 | c.469_498del (p.Asp157_Ala166del) c.211_240del (p.Asp71_Ala80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382741G>A | CA390849614 | SERPINA1 | c.497C>T (p.Ala166Val) c.239C>T (p.Ala80Val) | COSMIC |
14 | g.94382741G>C | CA390849615 | SERPINA1 | c.497C>G (p.Ala166Gly) c.239C>G (p.Ala80Gly) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382741G= | CA2155954757 | SERPINA1 | c.497C= (p.Ala166=) c.239C= (p.Ala80=) | |
14 | g.94382741G>T | CA265864118 | SERPINA1 | c.497C>A (p.Ala166Asp) c.239C>A (p.Ala80Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382742C>A | CA390849616 | SERPINA1 | c.496G>T (p.Ala166Ser) c.238G>T (p.Ala80Ser) | |
14 | g.94382742C>G | CA390849617 | SERPINA1 | c.496G>C (p.Ala166Pro) c.238G>C (p.Ala80Pro) | |
14 | g.94382742C>T | CA390849618 | SERPINA1 | c.496G>A (p.Ala166Thr) c.238G>A (p.Ala80Thr) | |
14 | g.94382743T>A | CA390849619 | SERPINA1 | c.495A>T (p.Glu165Asp) c.237A>T (p.Glu79Asp) | |
14 | g.94382743T>C | CA487622051 | SERPINA1 | c.495A>G (p.Glu165=) c.237A>G (p.Glu79=) | |
14 | g.94382743T>G | CA390849620 | SERPINA1 | c.495A>C (p.Glu165Asp) c.237A>C (p.Glu79Asp) |