Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94383052G>A | CA487841217 | SERPINA1 | c.186C>T (p.Tyr62=) c.-23-50C>T (n.-23-50C>T) | |
14 | g.94383052G>C | CA390850602 | SERPINA1 | c.186C>G (p.Tyr62Ter) c.-23-50C>G (n.-23-50C>G) | |
14 | g.94383052G= | CA2155954912 | SERPINA1 | c.186C= (p.Tyr62=) c.-23-50C= (n.-23-50C=) | |
14 | g.94383052G>T | CA7327531 | SERPINA1 | c.186C>A (p.Tyr62Ter) c.-23-50C>A (n.-23-50C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94383053T>A | CA390850604 | SERPINA1 | c.185A>T (p.Tyr62Phe) c.-23-51A>T (n.-23-51A>T) | |
14 | g.94383053T>C | CA390850603 | SERPINA1 | c.185A>G (p.Tyr62Cys) c.-23-51A>G (n.-23-51A>G) | |
14 | g.94383053T>G | CA390850605 | SERPINA1 | c.185A>C (p.Tyr62Ser) c.-23-51A>C (n.-23-51A>C) | |
14 | g.94383054A>C | CA390850606 | SERPINA1 | c.184T>G (p.Tyr62Asp) c.-23-52T>G (n.-23-52T>G) | |
14 | g.94383054A>G | CA390850607 | SERPINA1 | c.184T>C (p.Tyr62His) c.-23-52T>C (n.-23-52T>C) | |
14 | g.94383054A>T | CA390850608 | SERPINA1 | c.184T>A (p.Tyr62Asn) c.-23-52T>A (n.-23-52T>A) | |
14 | g.94383055T>A | CA487841221 | SERPINA1 | c.183A>T (p.Leu61=) c.-23-53A>T (n.-23-53A>T) | |
14 | g.94383055T>C | CA487841222 | SERPINA1 | c.183A>G (p.Leu61=) c.-23-53A>G (n.-23-53A>G) | dbSNP |
14 | g.94383055T>G | CA487841223 | SERPINA1 | c.183A>C (p.Leu61=) c.-23-53A>C (n.-23-53A>C) | gnomAD v4 |
14 | g.94383055T= | CA2155954913 | SERPINA1 | c.183A= (p.Leu61=) c.-23-53A= (n.-23-53A=) | |
14 | g.94383056A>C | CA390850609 | SERPINA1 | c.182T>G (p.Leu61Arg) c.-23-54T>G (n.-23-54T>G) | |
14 | g.94383056A>G | CA390850610 | SERPINA1 | c.182T>C (p.Leu61Pro) c.-23-54T>C (n.-23-54T>C) | |
14 | g.94383056A>T | CA390850611 | SERPINA1 | c.182T>A (p.Leu61Gln) c.-23-54T>A (n.-23-54T>A) | |
14 | g.94383057G>A | CA487841224 | SERPINA1 | c.181C>T (p.Leu61=) c.-23-55C>T (n.-23-55C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383057G>C | CA390850612 | SERPINA1 | c.181C>G (p.Leu61Val) c.-23-55C>G (n.-23-55C>G) | |
14 | g.94383057G= | CA2155954914 | SERPINA1 | c.181C= (p.Leu61=) c.-23-55C= (n.-23-55C=) | |
14 | g.94383057G>T | CA390850613 | SERPINA1 | c.181C>A (p.Leu61Ile) c.-23-55C>A (n.-23-55C>A) | |
14 | g.94383058G>A | CA487841228 | SERPINA1 | c.180C>T (p.Ser60=) c.-23-56C>T (n.-23-56C>T) | |
14 | g.94383058G>C | CA349449 | SERPINA1 | c.180C>G (p.Ser60Arg) c.-23-56C>G (n.-23-56C>G) | ClinVar dbSNP |
14 | g.94383058G= | CA2155954915 | SERPINA1 | c.180C= (p.Ser60=) c.-23-56C= (n.-23-56C=) | |
14 | g.94383058G>T | CA390850614 | SERPINA1 | c.180C>A (p.Ser60Arg) c.-23-56C>A (n.-23-56C>A) | gnomAD v4 |
14 | g.94383059C>A | CA390850615 | SERPINA1 | c.179G>T (p.Ser60Ile) c.-23-57G>T (n.-23-57G>T) | |
14 | g.94383059C>G | CA390850616 | SERPINA1 | c.179G>C (p.Ser60Thr) c.-23-57G>C (n.-23-57G>C) | |
14 | g.94383059C>T | CA390850617 | SERPINA1 | c.179G>A (p.Ser60Asn) c.-23-57G>A (n.-23-57G>A) | gnomAD v4 |
14 | g.94383060T>A | CA390850619 | SERPINA1 | c.178A>T (p.Ser60Cys) c.-23-58A>T (n.-23-58A>T) | |
14 | g.94383060T>C | CA7327532 | SERPINA1 | c.178A>G (p.Ser60Gly) c.-23-58A>G (n.-23-58A>G) | dbSNP ExAC gnomAD v2 |
14 | g.94383060T>G | CA390850618 | SERPINA1 | c.178A>C (p.Ser60Arg) c.-23-58A>C (n.-23-58A>C) | |
14 | g.94383060T= | CA2155954916 | SERPINA1 | c.178A= (p.Ser60=) c.-23-58A= (n.-23-58A=) | |
14 | g.94383060_94383066delinsTGAAGGC | CA2155954917 | SERPINA1 | c.172_178delinsGCCTTCA (p.Ala58=) c.-23-64_-23-58delinsGCCTTCA (n.-23-64_-23-58delinsGCCTTCA) | |
14 | g.94383061G>A | CA487841233 | SERPINA1 | c.177C>T (p.Phe59=) c.-23-59C>T (n.-23-59C>T) | |
14 | g.94383061G>C | CA390850620 | SERPINA1 | c.177C>G (p.Phe59Leu) c.-23-59C>G (n.-23-59C>G) | |
14 | g.94383061G>T | CA390850621 | SERPINA1 | c.177C>A (p.Phe59Leu) c.-23-59C>A (n.-23-59C>A) | |
14 | g.94383064_94383069del | CA710097476 | SERPINA1 | c.172_177del (p.Ala58_Phe59del) c.-23-64_-23-59del (n.-23-64_-23-59del) | dbSNP |
14 | g.94383062A= | CA2155954918 | SERPINA1 | c.176T= (p.Phe59=) c.-23-60T= (n.-23-60T=) | |
14 | g.94383062A>C | CA390850622 | SERPINA1 | c.176T>G (p.Phe59Cys) c.-23-60T>G (n.-23-60T>G) | dbSNP gnomAD v2 |
14 | g.94383062A>G | CA390850623 | SERPINA1 | c.176T>C (p.Phe59Ser) c.-23-60T>C (n.-23-60T>C) | |
14 | g.94383062A>T | CA390850624 | SERPINA1 | c.176T>A (p.Phe59Tyr) c.-23-60T>A (n.-23-60T>A) | |
14 | g.94383063A>C | CA390850625 | SERPINA1 | c.175T>G (p.Phe59Val) c.-23-61T>G (n.-23-61T>G) | |
14 | g.94383063A>G | CA390850626 | SERPINA1 | c.175T>C (p.Phe59Leu) c.-23-61T>C (n.-23-61T>C) | |
14 | g.94383063A>T | CA390850627 | SERPINA1 | c.175T>A (p.Phe59Ile) c.-23-61T>A (n.-23-61T>A) | |
14 | g.94383064G>A | CA487841238 | SERPINA1 | c.174C>T (p.Ala58=) c.-23-62C>T (n.-23-62C>T) | gnomAD v4 |
14 | g.94383064G>C | CA487841241 | SERPINA1 | c.174C>G (p.Ala58=) c.-23-62C>G (n.-23-62C>G) | |
14 | g.94383064G>T | CA487841236 | SERPINA1 | c.174C>A (p.Ala58=) c.-23-62C>A (n.-23-62C>A) | |
14 | g.94383065G>A | CA390850628 | SERPINA1 | c.173C>T (p.Ala58Val) c.-23-63C>T (n.-23-63C>T) | dbSNP |
14 | g.94383065G>C | CA265864184 | SERPINA1 | c.173C>G (p.Ala58Gly) c.-23-63C>G (n.-23-63C>G) | dbSNP |
14 | g.94383065G= | CA2155954919 | SERPINA1 | c.173C= (p.Ala58=) c.-23-63C= (n.-23-63C=) |