Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382666C>A | CA390849447 | SERPINA1 | c.572G>T (p.Gly191Val) c.314G>T (p.Gly105Val) | |
14 | g.94382666C>G | CA390849448 | SERPINA1 | c.572G>C (p.Gly191Ala) c.314G>C (p.Gly105Ala) | |
14 | g.94382666C>T | CA390849446 | SERPINA1 | c.572G>A (p.Gly191Glu) c.314G>A (p.Gly105Glu) | |
14 | g.94382667C>A | CA390849449 | SERPINA1 | c.571G>T (p.Gly191Trp) c.313G>T (p.Gly105Trp) | |
14 | g.94382667C>G | CA390849450 | SERPINA1 | c.571G>C (p.Gly191Arg) c.313G>C (p.Gly105Arg) | |
14 | g.94382667C>T | CA390849451 | SERPINA1 | c.571G>A (p.Gly191Arg) c.313G>A (p.Gly105Arg) | |
14 | g.94382668T>A | CA390849452 | SERPINA1 | c.570A>T (p.Gln190His) c.312A>T (p.Gln104His) | |
14 | g.94382668T>C | CA487621994 | SERPINA1 | c.570A>G (p.Gln190=) c.312A>G (p.Gln104=) | |
14 | g.94382668T>G | CA390849453 | SERPINA1 | c.570A>C (p.Gln190His) c.312A>C (p.Gln104His) | |
14 | g.94382669del | CA2626309958 | SERPINA1 | c.570del (p.Ile193LeufsTer17) c.312del (p.Gln104=) | gnomAD v4 |
14 | g.94382669T>A | CA390849456 | SERPINA1 | c.569A>T (p.Gln190Leu) c.311A>T (p.Gln104Leu) | |
14 | g.94382669T>C | CA390849455 | SERPINA1 | c.569A>G (p.Gln190Arg) c.311A>G (p.Gln104Arg) | |
14 | g.94382669T>G | CA390849454 | SERPINA1 | c.569A>C (p.Gln190Pro) c.311A>C (p.Gln104Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382669T= | CA2155954726 | SERPINA1 | c.569A= (p.Gln190=) c.311A= (p.Gln104=) | |
14 | g.94382670G>A | CA390849457 | SERPINA1 | c.568C>T (p.Gln190Ter) c.310C>T (p.Gln104Ter) | |
14 | g.94382670G>C | CA390849458 | SERPINA1 | c.568C>G (p.Gln190Glu) c.310C>G (p.Gln104Glu) | |
14 | g.94382670G>T | CA390849459 | SERPINA1 | c.568C>A (p.Gln190Lys) c.310C>A (p.Gln104Lys) | |
14 | g.94382671A>C | CA487622002 | SERPINA1 | c.567T>G (p.Thr189=) c.309T>G (p.Thr103=) | |
14 | g.94382671A>G | CA487622000 | SERPINA1 | c.567T>C (p.Thr189=) c.309T>C (p.Thr103=) | |
14 | g.94382671A>T | CA487622001 | SERPINA1 | c.567T>A (p.Thr189=) c.309T>A (p.Thr103=) | |
14 | g.94382672G>A | CA390849460 | SERPINA1 | c.566C>T (p.Thr189Ile) c.308C>T (p.Thr103Ile) | ClinVar gnomAD v4 |
14 | g.94382672G>C | CA390849461 | SERPINA1 | c.566C>G (p.Thr189Ser) c.308C>G (p.Thr103Ser) | |
14 | g.94382672G>T | CA390849462 | SERPINA1 | c.566C>A (p.Thr189Asn) c.308C>A (p.Thr103Asn) | |
14 | g.94382673T>A | CA390849463 | SERPINA1 | c.565A>T (p.Thr189Ser) c.307A>T (p.Thr103Ser) | |
14 | g.94382673T>C | CA390849465 | SERPINA1 | c.565A>G (p.Thr189Ala) c.307A>G (p.Thr103Ala) | |
14 | g.94382673T>G | CA390849464 | SERPINA1 | c.565A>C (p.Thr189Pro) c.307A>C (p.Thr103Pro) | |
14 | g.94382674A= | CA2155954727 | SERPINA1 | c.564T= (p.Gly188=) c.306T= (p.Gly102=) | |
14 | g.94382674A>C | CA487622008 | SERPINA1 | c.564T>G (p.Gly188=) c.306T>G (p.Gly102=) | |
14 | g.94382674A>G | CA487622010 | SERPINA1 | c.564T>C (p.Gly188=) c.306T>C (p.Gly102=) | |
14 | g.94382674A>T | CA7327468 | SERPINA1 | c.564T>A (p.Gly188=) c.306T>A (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v4 |
14 | g.94382675C>A | CA390849466 | SERPINA1 | c.563G>T (p.Gly188Val) c.305G>T (p.Gly102Val) | |
14 | g.94382675C>G | CA390849467 | SERPINA1 | c.563G>C (p.Gly188Ala) c.305G>C (p.Gly102Ala) | |
14 | g.94382675C>T | CA390849468 | SERPINA1 | c.563G>A (p.Gly188Asp) c.305G>A (p.Gly102Asp) | gnomAD v4 COSMIC |
14 | g.94382676C>A | CA390849469 | SERPINA1 | c.562G>T (p.Gly188Cys) c.304G>T (p.Gly102Cys) | |
14 | g.94382676C= | CA2155954728 | SERPINA1 | c.562G= (p.Gly188=) c.304G= (p.Gly102=) | |
14 | g.94382676C>G | CA390849470 | SERPINA1 | c.562G>C (p.Gly188Arg) c.304G>C (p.Gly102Arg) | dbSNP |
14 | g.94382676C>T | CA7327469 | SERPINA1 | c.562G>A (p.Gly188Ser) c.304G>A (p.Gly102Ser) | dbSNP ExAC gnomAD v2 |
14 | g.94382677C>A | CA390849471 | SERPINA1 | c.561G>T (p.Lys187Asn) c.303G>T (p.Lys101Asn) | |
14 | g.94382677C>G | CA390849472 | SERPINA1 | c.561G>C (p.Lys187Asn) c.303G>C (p.Lys101Asn) | |
14 | g.94382677C>T | CA487622014 | SERPINA1 | c.561G>A (p.Lys187=) c.303G>A (p.Lys101=) | ClinVar |
14 | g.94382678T>A | CA390849473 | SERPINA1 | c.560A>T (p.Lys187Met) c.302A>T (p.Lys101Met) | |
14 | g.94382678T>C | CA390849474 | SERPINA1 | c.560A>G (p.Lys187Arg) c.302A>G (p.Lys101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382678T>G | CA7327470 | SERPINA1 | c.560A>C (p.Lys187Thr) c.302A>C (p.Lys101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382678T= | CA2155954729 | SERPINA1 | c.560A= (p.Lys187=) c.302A= (p.Lys101=) | |
14 | g.94382679T>A | CA390849476 | SERPINA1 | c.559A>T (p.Lys187Ter) c.301A>T (p.Lys101Ter) | gnomAD v4 |
14 | g.94382679T>C | CA390849477 | SERPINA1 | c.559A>G (p.Lys187Glu) c.301A>G (p.Lys101Glu) | |
14 | g.94382679T>G | CA390849475 | SERPINA1 | c.559A>C (p.Lys187Gln) c.301A>C (p.Lys101Gln) | |
14 | g.94382680C>A | CA390849479 | SERPINA1 | c.558G>T (p.Glu186Asp) c.300G>T (p.Glu100Asp) | |
14 | g.94382680C>G | CA390849478 | SERPINA1 | c.558G>C (p.Glu186Asp) c.300G>C (p.Glu100Asp) | |
14 | g.94382680C>T | CA487622018 | SERPINA1 | c.558G>A (p.Glu186=) c.300G>A (p.Glu100=) | ClinVar |