Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.135807146T>CCA429203323LCTc.4155A>G (p.Ala1385=)
c.2451A>G (p.Ala817=)
2g.135807146T>GCA429203324LCTc.4155A>C (p.Ala1385=)
c.2451A>C (p.Ala817=)
2g.135807147G>ACA348597342LCTc.4154C>T (p.Ala1385Val)
c.2450C>T (p.Ala817Val)
2g.135807147G>CCA348597344LCTc.4154C>G (p.Ala1385Gly)
c.2450C>G (p.Ala817Gly)
2g.135807147G>TCA348597346LCTc.4154C>A (p.Ala1385Glu)
c.2450C>A (p.Ala817Glu)
2g.135807148C>ACA348597348LCTc.4153G>T (p.Ala1385Ser)
c.2449G>T (p.Ala817Ser)
2g.135807148C=CA1290830352LCTc.4153G= (p.Ala1385=)
c.2449G= (p.Ala817=)
2g.135807148C>GCA348597350LCTc.4153G>C (p.Ala1385Pro)
c.2449G>C (p.Ala817Pro)
2g.135807148C>TCA348597351LCTc.4153G>A (p.Ala1385Thr)
c.2449G>A (p.Ala817Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135807149A>CCA348597353LCTc.4152T>G (p.Ser1384Arg)
c.2448T>G (p.Ser816Arg)
2g.135807149A>GCA429203328LCTc.4152T>C (p.Ser1384=)
c.2448T>C (p.Ser816=)
2g.135807149A>TCA348597355LCTc.4152T>A (p.Ser1384Arg)
c.2448T>A (p.Ser816Arg)
2g.135807150C>ACA348597357LCTc.4151G>T (p.Ser1384Ile)
c.2447G>T (p.Ser816Ile)
2g.135807150C>GCA348597359LCTc.4151G>C (p.Ser1384Thr)
c.2447G>C (p.Ser816Thr)
2g.135807150C>TCA348597361LCTc.4151G>A (p.Ser1384Asn)
c.2447G>A (p.Ser816Asn)
 gnomAD v4
2g.135807151T>ACA348597363LCTc.4150A>T (p.Ser1384Cys)
c.2446A>T (p.Ser816Cys)
2g.135807151T>CCA348597365LCTc.4150A>G (p.Ser1384Gly)
c.2446A>G (p.Ser816Gly)
 dbSNP
2g.135807151T>GCA348597364LCTc.4150A>C (p.Ser1384Arg)
c.2446A>C (p.Ser816Arg)
2g.135807152C>ACA348597367LCTc.4149G>T (p.Trp1383Cys)
c.2445G>T (p.Trp815Cys)
 gnomAD v4
2g.135807152C>GCA348597371LCTc.4149G>C (p.Trp1383Cys)
c.2445G>C (p.Trp815Cys)
2g.135807152C>TCA348597369LCTc.4149G>A (p.Trp1383Ter)
c.2445G>A (p.Trp815Ter)

Number of alleles fetched