Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135807131A=CA1290830348LCTc.4170T= (p.Tyr1390=)
c.2466T= (p.Tyr822=)
2g.135807131A>CCA348597284LCTc.4170T>G (p.Tyr1390Ter)
c.2466T>G (p.Tyr822Ter)
2g.135807131A>GCA429203289LCTc.4170T>C (p.Tyr1390=)
c.2466T>C (p.Tyr822=)
2g.135807131A>TCA118360LCTc.4170T>A (p.Tyr1390Ter)
c.2466T>A (p.Tyr822Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807132T>ACA348597287LCTc.4169A>T (p.Tyr1390Phe)
c.2465A>T (p.Tyr822Phe)
2g.135807132T>CCA348597289LCTc.4169A>G (p.Tyr1390Cys)
c.2465A>G (p.Tyr822Cys)
2g.135807132T>GCA348597290LCTc.4169A>C (p.Tyr1390Ser)
c.2465A>C (p.Tyr822Ser)
2g.135807133A=CA1290830349LCTc.4168T= (p.Tyr1390=)
c.2464T= (p.Tyr822=)
2g.135807133A>CCA348597293LCTc.4168T>G (p.Tyr1390Asp)
c.2464T>G (p.Tyr822Asp)
2g.135807133A>GCA348597295LCTc.4168T>C (p.Tyr1390His)
c.2464T>C (p.Tyr822His)
 dbSNP
2g.135807133A>TCA348597296LCTc.4168T>A (p.Tyr1390Asn)
c.2464T>A (p.Tyr822Asn)
2g.135807134T>ACA56611393LCTc.4167A>T (p.Ala1389=)
c.2463A>T (p.Ala821=)
 dbSNP gnomAD v4
2g.135807134T>CCA429203296LCTc.4167A>G (p.Ala1389=)
c.2463A>G (p.Ala821=)
 dbSNP
2g.135807134T>GCA429203297LCTc.4167A>C (p.Ala1389=)
c.2463A>C (p.Ala821=)
2g.135807134T=CA1290830350LCTc.4167A= (p.Ala1389=)
c.2463A= (p.Ala821=)
2g.135807135G>ACA348597297LCTc.4166C>T (p.Ala1389Val)
c.2462C>T (p.Ala821Val)
2g.135807135G>CCA348597299LCTc.4166C>G (p.Ala1389Gly)
c.2462C>G (p.Ala821Gly)
2g.135807135G>TCA348597301LCTc.4166C>A (p.Ala1389Glu)
c.2462C>A (p.Ala821Glu)
2g.135807136C>ACA348597303LCTc.4165G>T (p.Ala1389Ser)
c.2461G>T (p.Ala821Ser)
2g.135807136C>GCA348597304LCTc.4165G>C (p.Ala1389Pro)
c.2461G>C (p.Ala821Pro)
2g.135807136C>TCA348597306LCTc.4165G>A (p.Ala1389Thr)
c.2461G>A (p.Ala821Thr)
2g.135807137A=CA1290830351LCTc.4164T= (p.Ala1388=)
c.2460T= (p.Ala820=)
2g.135807137A>CCA1887915LCTc.4164T>G (p.Ala1388=)
c.2460T>G (p.Ala820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807137A>GCA429203301LCTc.4164T>C (p.Ala1388=)
c.2460T>C (p.Ala820=)
2g.135807137A>TCA429203302LCTc.4164T>A (p.Ala1388=)
c.2460T>A (p.Ala820=)
2g.135807138G>ACA348597313LCTc.4163C>T (p.Ala1388Val)
c.2459C>T (p.Ala820Val)
2g.135807138G>CCA348597309LCTc.4163C>G (p.Ala1388Gly)
c.2459C>G (p.Ala820Gly)
2g.135807138G>TCA348597311LCTc.4163C>A (p.Ala1388Asp)
c.2459C>A (p.Ala820Asp)
2g.135807139C>ACA348597314LCTc.4162G>T (p.Ala1388Ser)
c.2458G>T (p.Ala820Ser)
2g.135807139C>GCA348597316LCTc.4162G>C (p.Ala1388Pro)
c.2458G>C (p.Ala820Pro)
2g.135807139C>TCA348597318LCTc.4162G>A (p.Ala1388Thr)
c.2458G>A (p.Ala820Thr)
2g.135807140A>CCA429203310LCTc.4161T>G (p.Ser1387=)
c.2457T>G (p.Ser819=)
2g.135807140A>GCA429203309LCTc.4161T>C (p.Ser1387=)
c.2457T>C (p.Ser819=)
2g.135807140A>TCA429203308LCTc.4161T>A (p.Ser1387=)
c.2457T>A (p.Ser819=)
2g.135807141G>ACA348597324LCTc.4160C>T (p.Ser1387Phe)
c.2456C>T (p.Ser819Phe)
 gnomAD v4 COSMIC
2g.135807141G>CCA348597323LCTc.4160C>G (p.Ser1387Cys)
c.2456C>G (p.Ser819Cys)
2g.135807141G>TCA348597321LCTc.4160C>A (p.Ser1387Tyr)
c.2456C>A (p.Ser819Tyr)
2g.135807142A>CCA348597326LCTc.4159T>G (p.Ser1387Ala)
c.2455T>G (p.Ser819Ala)
2g.135807142A>GCA348597328LCTc.4159T>C (p.Ser1387Pro)
c.2455T>C (p.Ser819Pro)
2g.135807142A>TCA348597330LCTc.4159T>A (p.Ser1387Thr)
c.2455T>A (p.Ser819Thr)
2g.135807143A>CCA429203315LCTc.4158T>G (p.Ala1386=)
c.2454T>G (p.Ala818=)
2g.135807143A>GCA429203316LCTc.4158T>C (p.Ala1386=)
c.2454T>C (p.Ala818=)
2g.135807143A>TCA429203317LCTc.4158T>A (p.Ala1386=)
c.2454T>A (p.Ala818=)
2g.135807144G>ACA348597332LCTc.4157C>T (p.Ala1386Val)
c.2453C>T (p.Ala818Val)
2g.135807144G>CCA348597334LCTc.4157C>G (p.Ala1386Gly)
c.2453C>G (p.Ala818Gly)
2g.135807144G>TCA348597335LCTc.4157C>A (p.Ala1386Asp)
c.2453C>A (p.Ala818Asp)
2g.135807145C>ACA348597337LCTc.4156G>T (p.Ala1386Ser)
c.2452G>T (p.Ala818Ser)
2g.135807145C>GCA348597341LCTc.4156G>C (p.Ala1386Pro)
c.2452G>C (p.Ala818Pro)
2g.135807145C>TCA348597339LCTc.4156G>A (p.Ala1386Thr)
c.2452G>A (p.Ala818Thr)
2g.135807146T>ACA429203322LCTc.4155A>T (p.Ala1385=)
c.2451A>T (p.Ala817=)

Number of alleles fetched