Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380986A>C | CA390848586 | SERPINA1 | c.802T>G (p.Tyr268Asp) | |
14 | g.94380986A>G | CA390848587 | SERPINA1 | c.802T>C (p.Tyr268His) | |
14 | g.94380986A>T | CA390848588 | SERPINA1 | c.802T>A (p.Tyr268Asn) | |
14 | g.94380987T>A | CA390848590 | SERPINA1 | c.801A>T (p.Lys267Asn) | |
14 | g.94380987T>C | CA487841008 | SERPINA1 | c.801A>G (p.Lys267=) | gnomAD v4 |
14 | g.94380987T>G | CA390848591 | SERPINA1 | c.801A>C (p.Lys267Asn) | dbSNP |
14 | g.94380987T= | CA2155953891 | SERPINA1 | c.801A= (p.Lys267=) | |
14 | g.94380988T>A | CA390848593 | SERPINA1 | c.800A>T (p.Lys267Ile) | |
14 | g.94380988T>C | CA390848594 | SERPINA1 | c.800A>G (p.Lys267Arg) | COSMIC |
14 | g.94380988T>G | CA390848596 | SERPINA1 | c.800A>C (p.Lys267Thr) | |
14 | g.94380989T>A | CA390848597 | SERPINA1 | c.799A>T (p.Lys267Ter) | |
14 | g.94380989T>C | CA390848598 | SERPINA1 | c.799A>G (p.Lys267Glu) | |
14 | g.94380989T>G | CA390848599 | SERPINA1 | c.799A>C (p.Lys267Gln) | gnomAD v4 |
14 | g.94380990C>A | CA390848601 | SERPINA1 | c.798G>T (p.Met266Ile) | |
14 | g.94380990C>G | CA390848602 | SERPINA1 | c.798G>C (p.Met266Ile) | |
14 | g.94380990C>T | CA390848600 | SERPINA1 | c.798G>A (p.Met266Ile) | |
14 | g.94380991A= | CA2155953892 | SERPINA1 | c.797T= (p.Met266=) | |
14 | g.94380991A>C | CA390848604 | SERPINA1 | c.797T>G (p.Met266Arg) | |
14 | g.94380991A>G | CA7327403 | SERPINA1 | c.797T>C (p.Met266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380991A>T | CA390848606 | SERPINA1 | c.797T>A (p.Met266Lys) | |
14 | g.94380992T>A | CA390848607 | SERPINA1 | c.796A>T (p.Met266Leu) | |
14 | g.94380992T>C | CA390848609 | SERPINA1 | c.796A>G (p.Met266Val) | |
14 | g.94380992T>G | CA390848611 | SERPINA1 | c.796A>C (p.Met266Leu) | |
14 | g.94380993C>A | CA487841011 | SERPINA1 | c.795G>T (p.Leu265=) | |
14 | g.94380993C= | CA2155953893 | SERPINA1 | c.795G= (p.Leu265=) | |
14 | g.94380993C>G | CA487841012 | SERPINA1 | c.795G>C (p.Leu265=) | |
14 | g.94380993C>T | CA7327404 | SERPINA1 | c.795G>A (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380994A>C | CA390848613 | SERPINA1 | c.794T>G (p.Leu265Arg) | |
14 | g.94380994A>G | CA390848614 | SERPINA1 | c.794T>C (p.Leu265Pro) | |
14 | g.94380994A>T | CA390848616 | SERPINA1 | c.794T>A (p.Leu265Gln) | |
14 | g.94380995G>A | CA7327405 | SERPINA1 | c.793C>T (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380995G>C | CA390848618 | SERPINA1 | c.793C>G (p.Leu265Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380995G= | CA2155953894 | SERPINA1 | c.793C= (p.Leu265=) | |
14 | g.94380995G>T | CA390848620 | SERPINA1 | c.793C>A (p.Leu265Met) | |
14 | g.94380996C>A | CA487841014 | SERPINA1 | c.792G>T (p.Leu264=) | |
14 | g.94380996C= | CA2155953895 | SERPINA1 | c.792G= (p.Leu264=) | |
14 | g.94380996C>G | CA487841015 | SERPINA1 | c.792G>C (p.Leu264=) | |
14 | g.94380996C>T | CA487841017 | SERPINA1 | c.792G>A (p.Leu264=) | ClinVar dbSNP gnomAD v2 |
14 | g.94380997A>C | CA390848625 | SERPINA1 | c.791T>G (p.Leu264Arg) | |
14 | g.94380997A>G | CA390848623 | SERPINA1 | c.791T>C (p.Leu264Pro) | |
14 | g.94380997A>T | CA390848622 | SERPINA1 | c.791T>A (p.Leu264Gln) | |
14 | g.94380998G>A | CA487841018 | SERPINA1 | c.790C>T (p.Leu264=) | |
14 | g.94380998G>C | CA390848627 | SERPINA1 | c.790C>G (p.Leu264Val) | |
14 | g.94380998G>T | CA390848629 | SERPINA1 | c.790C>A (p.Leu264Met) | |
14 | g.94380999C>A | CA487841019 | SERPINA1 | c.789G>T (p.Val263=) | |
14 | g.94380999C>G | CA487841020 | SERPINA1 | c.789G>C (p.Val263=) | |
14 | g.94380999C>T | CA487841021 | SERPINA1 | c.789G>A (p.Val263=) | |
14 | g.94381000A>C | CA390848630 | SERPINA1 | c.788T>G (p.Val263Gly) | |
14 | g.94381000A>G | CA390848632 | SERPINA1 | c.788T>C (p.Val263Ala) | |
14 | g.94381000A>T | CA390848634 | SERPINA1 | c.788T>A (p.Val263Glu) |