Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.135807153C>ACA348597372LCTc.4148G>T (p.Trp1383Leu)
c.2444G>T (p.Trp815Leu)
COSMIC
2g.135807153C>GCA348597376LCTc.4148G>C (p.Trp1383Ser)
c.2444G>C (p.Trp815Ser)
2g.135807153C>TCA348597374LCTc.4148G>A (p.Trp1383Ter)
c.2444G>A (p.Trp815Ter)
2g.135807154A>CCA348597377LCTc.4147T>G (p.Trp1383Gly)
c.2443T>G (p.Trp815Gly)
2g.135807154A>GCA348597379LCTc.4147T>C (p.Trp1383Arg)
c.2443T>C (p.Trp815Arg)
gnomAD v4
2g.135807154A>TCA348597381LCTc.4147T>A (p.Trp1383Arg)
c.2443T>A (p.Trp815Arg)
2g.135807155G>ACA429203336LCTc.4146C>T (p.Ile1382=)
c.2442C>T (p.Ile814=)
gnomAD v4
2g.135807155G>CCA348597382LCTc.4146C>G (p.Ile1382Met)
c.2442C>G (p.Ile814Met)
2g.135807155G>TCA429203335LCTc.4146C>A (p.Ile1382=)
c.2442C>A (p.Ile814=)
2g.135807156A>CCA348597385LCTc.4145T>G (p.Ile1382Ser)
c.2441T>G (p.Ile814Ser)
2g.135807156A>GCA348597387LCTc.4145T>C (p.Ile1382Thr)
c.2441T>C (p.Ile814Thr)
2g.135807156A>TCA348597388LCTc.4145T>A (p.Ile1382Asn)
c.2441T>A (p.Ile814Asn)
2g.135807157T>ACA348597391LCTc.4144A>T (p.Ile1382Phe)
c.2440A>T (p.Ile814Phe)
2g.135807157T>CCA348597393LCTc.4144A>G (p.Ile1382Val)
c.2440A>G (p.Ile814Val)
2g.135807157T>GCA348597394LCTc.4144A>C (p.Ile1382Leu)
c.2440A>C (p.Ile814Leu)
2g.135807158G>ACA429203338LCTc.4143C>T (p.Phe1381=)
c.2439C>T (p.Phe813=)
2g.135807158G>CCA348597397LCTc.4143C>G (p.Phe1381Leu)
c.2439C>G (p.Phe813Leu)
2g.135807158G>TCA348597398LCTc.4143C>A (p.Phe1381Leu)
c.2439C>A (p.Phe813Leu)
2g.135807159A>CCA348597404LCTc.4142T>G (p.Phe1381Cys)
c.2438T>G (p.Phe813Cys)
2g.135807159A>GCA348597401LCTc.4142T>C (p.Phe1381Ser)
c.2438T>C (p.Phe813Ser)
2g.135807159A>TCA348597402LCTc.4142T>A (p.Phe1381Tyr)
c.2438T>A (p.Phe813Tyr)
2g.135807160A>CCA348597406LCTc.4141T>G (p.Phe1381Val)
c.2437T>G (p.Phe813Val)
2g.135807160A>GCA348597408LCTc.4141T>C (p.Phe1381Leu)
c.2437T>C (p.Phe813Leu)
2g.135807160A>TCA348597410LCTc.4141T>A (p.Phe1381Ile)
c.2437T>A (p.Phe813Ile)
2g.135807161G>ACA429203342LCTc.4140C>T (p.Gly1380=)
c.2436C>T (p.Gly812=)
gnomAD v4

Number of alleles fetched