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=)
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
2g.135807161G>CCA429203345LCTc.4140C>G (p.Gly1380=)
c.2436C>G (p.Gly812=)
2g.135807161G>TCA429203344LCTc.4140C>A (p.Gly1380=)
c.2436C>A (p.Gly812=)
2g.135807162C>ACA348597411LCTc.4139G>T (p.Gly1380Val)
c.2435G>T (p.Gly812Val)
 COSMIC
2g.135807162C>GCA348597412LCTc.4139G>C (p.Gly1380Ala)
c.2435G>C (p.Gly812Ala)
2g.135807162C>TCA348597413LCTc.4139G>A (p.Gly1380Asp)
c.2435G>A (p.Gly812Asp)
 COSMIC
2g.135807163C>ACA348597414LCTc.4138G>T (p.Gly1380Cys)
c.2434G>T (p.Gly812Cys)
2g.135807163C>GCA348597415LCTc.4138G>C (p.Gly1380Arg)
c.2434G>C (p.Gly812Arg)
2g.135807163C>TCA348597416LCTc.4138G>A (p.Gly1380Ser)
c.2434G>A (p.Gly812Ser)
 gnomAD v4 COSMIC
2g.135807164C>ACA348597417LCTc.4137G>T (p.Glu1379Asp)
c.2433G>T (p.Glu811Asp)
 gnomAD v4
2g.135807164C>GCA348597418LCTc.4137G>C (p.Glu1379Asp)
c.2433G>C (p.Glu811Asp)
2g.135807164C>TCA429203351LCTc.4137G>A (p.Glu1379=)
c.2433G>A (p.Glu811=)
2g.135807165T>ACA348597421LCTc.4136A>T (p.Glu1379Val)
c.2432A>T (p.Glu811Val)
2g.135807165T>CCA348597420LCTc.4136A>G (p.Glu1379Gly)
c.2432A>G (p.Glu811Gly)
2g.135807165T>GCA348597419LCTc.4136A>C (p.Glu1379Ala)
c.2432A>C (p.Glu811Ala)
2g.135807166C>ACA348597423LCTc.4135G>T (p.Glu1379Ter)
c.2431G>T (p.Glu811Ter)
2g.135807166C=CA1290830353LCTc.4135G= (p.Glu1379=)
c.2431G= (p.Glu811=)
2g.135807166C>GCA348597422LCTc.4135G>C (p.Glu1379Gln)
c.2431G>C (p.Glu811Gln)
2g.135807166C>TCA56611422LCTc.4135G>A (p.Glu1379Lys)
c.2431G>A (p.Glu811Lys)
 dbSNP gnomAD v4
2g.135807167A=CA1290830354LCTc.4134T= (p.Pro1378=)
c.2430T= (p.Pro810=)
2g.135807167A>CCA429203356LCTc.4134T>G (p.Pro1378=)
c.2430T>G (p.Pro810=)
2g.135807167A>GCA429203357LCTc.4134T>C (p.Pro1378=)
c.2430T>C (p.Pro810=)
 dbSNP
2g.135807167A>TCA429203358LCTc.4134T>A (p.Pro1378=)
c.2430T>A (p.Pro810=)
2g.135807168G>ACA348597424LCTc.4133C>T (p.Pro1378Leu)
c.2429C>T (p.Pro810Leu)
2g.135807168G>CCA348597425LCTc.4133C>G (p.Pro1378Arg)
c.2429C>G (p.Pro810Arg)
2g.135807168G>TCA348597426LCTc.4133C>A (p.Pro1378His)
c.2429C>A (p.Pro810His)
2g.135807169G>ACA348597427LCTc.4132C>T (p.Pro1378Ser)
c.2428C>T (p.Pro810Ser)
 COSMIC
2g.135807169G>CCA348597428LCTc.4132C>G (p.Pro1378Ala)
c.2428C>G (p.Pro810Ala)
2g.135807169G>TCA348597429LCTc.4132C>A (p.Pro1378Thr)
c.2428C>A (p.Pro810Thr)
2g.135807170A>CCA348597430LCTc.4131T>G (p.Phe1377Leu)
c.2427T>G (p.Phe809Leu)
2g.135807170A>GCA429203361LCTc.4131T>C (p.Phe1377=)
c.2427T>C (p.Phe809=)
2g.135807170A>TCA348597431LCTc.4131T>A (p.Phe1377Leu)
c.2427T>A (p.Phe809Leu)
2g.135807171A=CA1290830355LCTc.4130T= (p.Phe1377=)
c.2426T= (p.Phe809=)
2g.135807171A>CCA348597432LCTc.4130T>G (p.Phe1377Cys)
c.2426T>G (p.Phe809Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.135807171A>GCA348597433LCTc.4130T>C (p.Phe1377Ser)
c.2426T>C (p.Phe809Ser)
2g.135807171A>TCA348597434LCTc.4130T>A (p.Phe1377Tyr)
c.2426T>A (p.Phe809Tyr)
2g.135807172A>CCA348597437LCTc.4129T>G (p.Phe1377Val)
c.2425T>G (p.Phe809Val)
2g.135807172A>GCA348597435LCTc.4129T>C (p.Phe1377Leu)
c.2425T>C (p.Phe809Leu)
2g.135807172A>TCA348597436LCTc.4129T>A (p.Phe1377Ile)
c.2425T>A (p.Phe809Ile)
2g.135807173C>ACA429203365LCTc.4128G>T (p.Arg1376=)
c.2424G>T (p.Arg808=)
2g.135807173C=CA1290830356LCTc.4128G= (p.Arg1376=)
c.2424G= (p.Arg808=)
2g.135807173C>GCA429203377LCTc.4128G>C (p.Arg1376=)
c.2424G>C (p.Arg808=)
2g.135807173C>TCA1887916LCTc.4128G>A (p.Arg1376=)
c.2424G>A (p.Arg808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135807174C>ACA348597438LCTc.4127G>T (p.Arg1376Leu)
c.2423G>T (p.Arg808Leu)
2g.135807174C=CA1290830357LCTc.4127G= (p.Arg1376=)
c.2423G= (p.Arg808=)
2g.135807174C>GCA348597439LCTc.4127G>C (p.Arg1376Pro)
c.2423G>C (p.Arg808Pro)
 dbSNP
2g.135807174C>TCA1887917LCTc.4127G>A (p.Arg1376Gln)
c.2423G>A (p.Arg808Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807175G>ACA348597440LCTc.4126C>T (p.Arg1376Trp)
c.2422C>T (p.Arg808Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135807175G>CCA348597441LCTc.4126C>G (p.Arg1376Gly)
c.2422C>G (p.Arg808Gly)
2g.135807175G=CA1290830358LCTc.4126C= (p.Arg1376=)
c.2422C= (p.Arg808=)
2g.135807175G>TCA429203379LCTc.4126C>A (p.Arg1376=)
c.2422C>A (p.Arg808=)
 gnomAD v4
2g.135807176T>ACA429203380LCTc.4125A>T (p.Gly1375=)
c.2421A>T (p.Gly807=)
 ClinVar dbSNP
2g.135807176T>CCA429203383LCTc.4125A>G (p.Gly1375=)
c.2421A>G (p.Gly807=)
2g.135807176T>GCA429203381LCTc.4125A>C (p.Gly1375=)
c.2421A>C (p.Gly807=)
 dbSNP
2g.135807176T=CA1290830359LCTc.4125A= (p.Gly1375=)
c.2421A= (p.Gly807=)
2g.135807179_135807194delCA2661275119LCTc.4110_4125del (p.Glu1371GlyfsTer?)
c.2406_2421del (p.Glu803GlyfsTer?)
 gnomAD v4
2g.135807177C>ACA348597442LCTc.4124G>T (p.Gly1375Val)
c.2420G>T (p.Gly807Val)
 dbSNP
2g.135807177C>GCA348597443LCTc.4124G>C (p.Gly1375Ala)
c.2420G>C (p.Gly807Ala)
2g.135807177C>TCA348597444LCTc.4124G>A (p.Gly1375Glu)
c.2420G>A (p.Gly807Glu)
 gnomAD v4
2g.135807178C>ACA348597445LCTc.4123G>T (p.Gly1375Ter)
c.2419G>T (p.Gly807Ter)
2g.135807178C=CA1290830360LCTc.4123G= (p.Gly1375=)
c.2419G= (p.Gly807=)
2g.135807178C>GCA348597446LCTc.4123G>C (p.Gly1375Arg)
c.2419G>C (p.Gly807Arg)
2g.135807178C>TCA56611450LCTc.4123G>A (p.Gly1375Arg)
c.2419G>A (p.Gly807Arg)
 ClinVar dbSNP gnomAD v4
2g.135807179G>ACA1887918LCTc.4122C>T (p.Tyr1374=)
c.2418C>T (p.Tyr806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807179G>CCA348597448LCTc.4122C>G (p.Tyr1374Ter)
c.2418C>G (p.Tyr806Ter)
 gnomAD v4
2g.135807179G=CA1290830361LCTc.4122C= (p.Tyr1374=)
c.2418C= (p.Tyr806=)
2g.135807179G>TCA348597447LCTc.4122C>A (p.Tyr1374Ter)
c.2418C>A (p.Tyr806Ter)
 COSMIC
2g.135807180T>ACA348597449LCTc.4121A>T (p.Tyr1374Phe)
c.2417A>T (p.Tyr806Phe)
 gnomAD v4
2g.135807180T>CCA348597451LCTc.4121A>G (p.Tyr1374Cys)
c.2417A>G (p.Tyr806Cys)
2g.135807180T>GCA348597450LCTc.4121A>C (p.Tyr1374Ser)
c.2417A>C (p.Tyr806Ser)
2g.135807181A=CA1290830362LCTc.4120T= (p.Tyr1374=)
c.2416T= (p.Tyr806=)
2g.135807181A>CCA348597452LCTc.4120T>G (p.Tyr1374Asp)
c.2416T>G (p.Tyr806Asp)
2g.135807181A>GCA348597453LCTc.4120T>C (p.Tyr1374His)
c.2416T>C (p.Tyr806His)
 ClinVar dbSNP
2g.135807181A>TCA56611461LCTc.4120T>A (p.Tyr1374Asn)
c.2416T>A (p.Tyr806Asn)
 dbSNP
2g.135807182C>ACA429203392LCTc.4119G>T (p.Leu1373=)
c.2415G>T (p.Leu805=)
2g.135807182C=CA1290830363LCTc.4119G= (p.Leu1373=)
c.2415G= (p.Leu805=)
2g.135807182C>GCA429203393LCTc.4119G>C (p.Leu1373=)
c.2415G>C (p.Leu805=)
 dbSNP gnomAD v2 gnomAD v4
2g.135807182C>TCA56611469LCTc.4119G>A (p.Leu1373=)
c.2415G>A (p.Leu805=)
 dbSNP gnomAD v4
2g.135807183A>CCA348597454LCTc.4118T>G (p.Leu1373Arg)
c.2414T>G (p.Leu805Arg)
2g.135807183A>GCA348597455LCTc.4118T>C (p.Leu1373Pro)
c.2414T>C (p.Leu805Pro)
2g.135807183A>TCA348597456LCTc.4118T>A (p.Leu1373Gln)
c.2414T>A (p.Leu805Gln)
2g.135807184G>ACA429203395LCTc.4117C>T (p.Leu1373=)
c.2413C>T (p.Leu805=)
2g.135807184G>CCA348597457LCTc.4117C>G (p.Leu1373Val)
c.2413C>G (p.Leu805Val)
2g.135807184G>TCA348597458LCTc.4117C>A (p.Leu1373Met)
c.2413C>A (p.Leu805Met)
2g.135807185A>CCA348597459LCTc.4116T>G (p.Phe1372Leu)
c.2412T>G (p.Phe804Leu)
2g.135807185A>GCA429203397LCTc.4116T>C (p.Phe1372=)
c.2412T>C (p.Phe804=)
2g.135807185A>TCA348597460LCTc.4116T>A (p.Phe1372Leu)
c.2412T>A (p.Phe804Leu)
2g.135807186A>CCA348597463LCTc.4115T>G (p.Phe1372Cys)
c.2411T>G (p.Phe804Cys)
2g.135807186A>GCA348597461LCTc.4115T>C (p.Phe1372Ser)
c.2411T>C (p.Phe804Ser)
2g.135807186A>TCA348597462LCTc.4115T>A (p.Phe1372Tyr)
c.2411T>A (p.Phe804Tyr)
2g.135807187A=CA1290830364LCTc.4114T= (p.Phe1372=)
c.2410T= (p.Phe804=)
2g.135807187A>CCA348597464LCTc.4114T>G (p.Phe1372Val)
c.2410T>G (p.Phe804Val)
 dbSNP
2g.135807187A>GCA348597465LCTc.4114T>C (p.Phe1372Leu)
c.2410T>C (p.Phe804Leu)
2g.135807187A>TCA348597466LCTc.4114T>A (p.Phe1372Ile)
c.2410T>A (p.Phe804Ile)
2g.135807188C>ACA348597467LCTc.4113G>T (p.Glu1371Asp)
c.2409G>T (p.Glu803Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135807188C=CA1290830365LCTc.4113G= (p.Glu1371=)
c.2409G= (p.Glu803=)
2g.135807188C>GCA348597468LCTc.4113G>C (p.Glu1371Asp)
c.2409G>C (p.Glu803Asp)
2g.135807188C>TCA429203404LCTc.4113G>A (p.Glu1371=)
c.2409G>A (p.Glu803=)
2g.135807189T>ACA348597469LCTc.4112A>T (p.Glu1371Val)
c.2408A>T (p.Glu803Val)
2g.135807189T>CCA348597470LCTc.4112A>G (p.Glu1371Gly)
c.2408A>G (p.Glu803Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135807189T>GCA348597471LCTc.4112A>C (p.Glu1371Ala)
c.2408A>C (p.Glu803Ala)
2g.135807189T=CA1290830366LCTc.4112A= (p.Glu1371=)
c.2408A= (p.Glu803=)
2g.135807190C>ACA348597472LCTc.4111G>T (p.Glu1371Ter)
c.2407G>T (p.Glu803Ter)
2g.135807190C>GCA348597473LCTc.4111G>C (p.Glu1371Gln)
c.2407G>C (p.Glu803Gln)
2g.135807190C>TCA348597474LCTc.4111G>A (p.Glu1371Lys)
c.2407G>A (p.Glu803Lys)
2g.135807191A>CCA348597476LCTc.4110T>G (p.Asp1370Glu)
c.2406T>G (p.Asp802Glu)
 gnomAD v3 gnomAD v4
2g.135807191A>GCA429203410LCTc.4110T>C (p.Asp1370=)
c.2406T>C (p.Asp802=)
 gnomAD v4
2g.135807191A>TCA348597475LCTc.4110T>A (p.Asp1370Glu)
c.2406T>A (p.Asp802Glu)
2g.135807192T>ACA348597477LCTc.4109A>T (p.Asp1370Val)
c.2405A>T (p.Asp802Val)
2g.135807192T>CCA348597478LCTc.4109A>G (p.Asp1370Gly)
c.2405A>G (p.Asp802Gly)
2g.135807192T>GCA348597479LCTc.4109A>C (p.Asp1370Ala)
c.2405A>C (p.Asp802Ala)
2g.135807193C>ACA348597480LCTc.4108G>T (p.Asp1370Tyr)
c.2404G>T (p.Asp802Tyr)
2g.135807193C=CA1290830367LCTc.4108G= (p.Asp1370=)
c.2404G= (p.Asp802=)
2g.135807193C>GCA348597481LCTc.4108G>C (p.Asp1370His)
c.2404G>C (p.Asp802His)
2g.135807193C>TCA1887919LCTc.4108G>A (p.Asp1370Asn)
c.2404G>A (p.Asp802Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135807194C>ACA348597482LCTc.4107G>T (p.Glu1369Asp)
c.2403G>T (p.Glu801Asp)
2g.135807194C=CA1290830368LCTc.4107G= (p.Glu1369=)
c.2403G= (p.Glu801=)
2g.135807194C>GCA348597483LCTc.4107G>C (p.Glu1369Asp)
c.2403G>C (p.Glu801Asp)
2g.135807194C>TCA429203413LCTc.4107G>A (p.Glu1369=)
c.2403G>A (p.Glu801=)
 dbSNP
2g.135807195T>ACA348597484LCTc.4106A>T (p.Glu1369Val)
c.2402A>T (p.Glu801Val)
2g.135807195T>CCA348597485LCTc.4106A>G (p.Glu1369Gly)
c.2402A>G (p.Glu801Gly)
2g.135807195T>GCA348597486LCTc.4106A>C (p.Glu1369Ala)
c.2402A>C (p.Glu801Ala)
2g.135807196C>ACA348597487LCTc.4105G>T (p.Glu1369Ter)
c.2401G>T (p.Glu801Ter)
2g.135807196C>GCA348597488LCTc.4105G>C (p.Glu1369Gln)
c.2401G>C (p.Glu801Gln)
2g.135807196C>TCA348597489LCTc.4105G>A (p.Glu1369Lys)
c.2401G>A (p.Glu801Lys)
2g.135807197C>ACA348597490LCTc.4104G>T (p.Arg1368Ser)
c.2400G>T (p.Arg800Ser)
2g.135807197C=CA1290830369LCTc.4104G= (p.Arg1368=)
c.2400G= (p.Arg800=)
2g.135807197C>GCA348597491LCTc.4104G>C (p.Arg1368Ser)
c.2400G>C (p.Arg800Ser)
2g.135807197C>TCA429203418LCTc.4104G>A (p.Arg1368=)
c.2400G>A (p.Arg800=)
 ClinVar dbSNP
2g.135807198C>ACA348597492LCTc.4103G>T (p.Arg1368Met)
c.2399G>T (p.Arg800Met)
2g.135807198C=CA1290830370LCTc.4103G= (p.Arg1368=)
c.2399G= (p.Arg800=)
2g.135807198C>GCA348597493LCTc.4103G>C (p.Arg1368Thr)
c.2399G>C (p.Arg800Thr)
 dbSNP
2g.135807198C>TCA348597494LCTc.4103G>A (p.Arg1368Lys)
c.2399G>A (p.Arg800Lys)
 gnomAD v4
2g.135807199T>ACA348597495LCTc.4102A>T (p.Arg1368Trp)
c.2398A>T (p.Arg800Trp)
 gnomAD v4
2g.135807199T>CCA348597496LCTc.4102A>G (p.Arg1368Gly)
c.2398A>G (p.Arg800Gly)
 dbSNP gnomAD v4
2g.135807199T>GCA429203422LCTc.4102A>C (p.Arg1368=)
c.2398A>C (p.Arg800=)
2g.135807199T=CA1290830371LCTc.4102A= (p.Arg1368=)
c.2398A= (p.Arg800=)
2g.135807200G>ACA429203424LCTc.4101C>T (p.Ala1367=)
c.2397C>T (p.Ala799=)
2g.135807200G>CCA429203425LCTc.4101C>G (p.Ala1367=)
c.2397C>G (p.Ala799=)
2g.135807200G>TCA429203427LCTc.4101C>A (p.Ala1367=)
c.2397C>A (p.Ala799=)
 COSMIC
2g.135807201G>ACA348597497LCTc.4100C>T (p.Ala1367Val)
c.2396C>T (p.Ala799Val)
2g.135807201G>CCA348597498LCTc.4100C>G (p.Ala1367Gly)
c.2396C>G (p.Ala799Gly)
2g.135807201G>TCA348597499LCTc.4100C>A (p.Ala1367Asp)
c.2396C>A (p.Ala799Asp)
2g.135807202C>ACA348597500LCTc.4099G>T (p.Ala1367Ser)
c.2395G>T (p.Ala799Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.135807202C=CA1290830372LCTc.4099G= (p.Ala1367=)
c.2395G= (p.Ala799=)
2g.135807202C>GCA348597501LCTc.4099G>C (p.Ala1367Pro)
c.2395G>C (p.Ala799Pro)
 dbSNP
2g.135807202C>TCA348597502LCTc.4099G>A (p.Ala1367Thr)
c.2395G>A (p.Ala799Thr)
 gnomAD v4
2g.135807203C>ACA429203430LCTc.4098G>T (p.Leu1366=)
c.2394G>T (p.Leu798=)
2g.135807203C>GCA429203431LCTc.4098G>C (p.Leu1366=)
c.2394G>C (p.Leu798=)
2g.135807203C>TCA429203434LCTc.4098G>A (p.Leu1366=)
c.2394G>A (p.Leu798=)
2g.135807204A=CA1290830373LCTc.4097T= (p.Leu1366=)
c.2393T= (p.Leu798=)
2g.135807204A>CCA348597505LCTc.4097T>G (p.Leu1366Arg)
c.2393T>G (p.Leu798Arg)
2g.135807204A>GCA348597504LCTc.4097T>C (p.Leu1366Pro)
c.2393T>C (p.Leu798Pro)
 dbSNP
2g.135807204A>TCA348597503LCTc.4097T>A (p.Leu1366Gln)
c.2393T>A (p.Leu798Gln)
2g.135807205G>ACA429203437LCTc.4096C>T (p.Leu1366=)
c.2392C>T (p.Leu798=)
2g.135807205G>CCA348597506LCTc.4096C>G (p.Leu1366Val)
c.2392C>G (p.Leu798Val)
2g.135807205G>TCA348597507LCTc.4096C>A (p.Leu1366Met)
c.2392C>A (p.Leu798Met)
2g.135807206T>ACA429203440LCTc.4095A>T (p.Pro1365=)
c.2391A>T (p.Pro797=)
2g.135807206T>CCA429203442LCTc.4095A>G (p.Pro1365=)
c.2391A>G (p.Pro797=)
2g.135807206T>GCA429203444LCTc.4095A>C (p.Pro1365=)
c.2391A>C (p.Pro797=)
 dbSNP gnomAD v3 gnomAD v4
2g.135807206T=CA1290830374LCTc.4095A= (p.Pro1365=)
c.2391A= (p.Pro797=)
2g.135807207G>ACA348597508LCTc.4094C>T (p.Pro1365Leu)
c.2390C>T (p.Pro797Leu)
2g.135807207G>CCA348597510LCTc.4094C>G (p.Pro1365Arg)
c.2390C>G (p.Pro797Arg)
2g.135807207G>TCA348597509LCTc.4094C>A (p.Pro1365Gln)
c.2390C>A (p.Pro797Gln)
2g.135807208G>ACA348597511LCTc.4093C>T (p.Pro1365Ser)
c.2389C>T (p.Pro797Ser)
2g.135807208G>CCA348597512LCTc.4093C>G (p.Pro1365Ala)
c.2389C>G (p.Pro797Ala)
2g.135807208G>TCA348597513LCTc.4093C>A (p.Pro1365Thr)
c.2389C>A (p.Pro797Thr)
2g.135807209C>ACA348597514LCTc.4092G>T (p.Met1364Ile)
c.2388G>T (p.Met796Ile)
2g.135807209C>GCA348597515LCTc.4092G>C (p.Met1364Ile)
c.2388G>C (p.Met796Ile)
2g.135807209C>TCA348597516LCTc.4092G>A (p.Met1364Ile)
c.2388G>A (p.Met796Ile)
2g.135807210A>CCA348597517LCTc.4091T>G (p.Met1364Arg)
c.2387T>G (p.Met796Arg)
2g.135807210A>GCA348597518LCTc.4091T>C (p.Met1364Thr)
c.2387T>C (p.Met796Thr)
2g.135807210A>TCA348597519LCTc.4091T>A (p.Met1364Lys)
c.2387T>A (p.Met796Lys)
2g.135807211T>ACA348597520LCTc.4090A>T (p.Met1364Leu)
c.2386A>T (p.Met796Leu)
2g.135807211T>CCA348597521LCTc.4090A>G (p.Met1364Val)
c.2386A>G (p.Met796Val)
 dbSNP gnomAD v2 gnomAD v4
2g.135807211T>GCA348597522LCTc.4090A>C (p.Met1364Leu)
c.2386A>C (p.Met796Leu)
2g.135807211T=CA1290830375LCTc.4090A= (p.Met1364=)
c.2386A= (p.Met796=)
2g.135807212G>ACA429203453LCTc.4089C>T (p.Gly1363=)
c.2385C>T (p.Gly795=)
2g.135807212G>CCA429203457LCTc.4089C>G (p.Gly1363=)
c.2385C>G (p.Gly795=)
2g.135807212G>TCA429203455LCTc.4089C>A (p.Gly1363=)
c.2385C>A (p.Gly795=)
2g.135807213C>ACA348597525LCTc.4088G>T (p.Gly1363Val)
c.2384G>T (p.Gly795Val)
2g.135807213C>GCA348597523LCTc.4088G>C (p.Gly1363Ala)
c.2384G>C (p.Gly795Ala)
2g.135807213C>TCA348597524LCTc.4088G>A (p.Gly1363Asp)
c.2384G>A (p.Gly795Asp)
2g.135807214C>ACA348597526LCTc.4087G>T (p.Gly1363Cys)
c.2383G>T (p.Gly795Cys)
2g.135807214C=CA1290830376LCTc.4087G= (p.Gly1363=)
c.2383G= (p.Gly795=)
2g.135807214C>GCA348597527LCTc.4087G>C (p.Gly1363Arg)
c.2383G>C (p.Gly795Arg)
2g.135807214C>TCA144313LCTc.4087G>A (p.Gly1363Ser)
c.2383G>A (p.Gly795Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807215G>ACA1887920LCTc.4086C>T (p.Asn1362=)
c.2382C>T (p.Asn794=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807215G>CCA348597528LCTc.4086C>G (p.Asn1362Lys)
c.2382C>G (p.Asn794Lys)
2g.135807215G=CA1290830377LCTc.4086C= (p.Asn1362=)
c.2382C= (p.Asn794=)
2g.135807215G>TCA348597529LCTc.4086C>A (p.Asn1362Lys)
c.2382C>A (p.Asn794Lys)
2g.135807216T>ACA348597530LCTc.4085A>T (p.Asn1362Ile)
c.2381A>T (p.Asn794Ile)
2g.135807216T>CCA56611496LCTc.4085A>G (p.Asn1362Ser)
c.2381A>G (p.Asn794Ser)
 dbSNP
2g.135807216T>GCA348597531LCTc.4085A>C (p.Asn1362Thr)
c.2381A>C (p.Asn794Thr)
2g.135807216T=CA1290830378LCTc.4085A= (p.Asn1362=)
c.2381A= (p.Asn794=)
2g.135807217T>ACA348597532LCTc.4084A>T (p.Asn1362Tyr)
c.2380A>T (p.Asn794Tyr)
2g.135807217T>CCA348597533LCTc.4084A>G (p.Asn1362Asp)
c.2380A>G (p.Asn794Asp)
2g.135807217T>GCA348597534LCTc.4084A>C (p.Asn1362His)
c.2380A>C (p.Asn794His)
2g.135807218G>ACA429203465LCTc.4083C>T (p.Asn1361=)
c.2379C>T (p.Asn793=)
2g.135807218G>CCA348597535LCTc.4083C>G (p.Asn1361Lys)
c.2379C>G (p.Asn793Lys)
2g.135807218G>TCA348597536LCTc.4083C>A (p.Asn1361Lys)
c.2379C>A (p.Asn793Lys)
2g.135807219T>ACA348597537LCTc.4082A>T (p.Asn1361Ile)
c.2378A>T (p.Asn793Ile)
2g.135807219T>CCA348597538LCTc.4082A>G (p.Asn1361Ser)
c.2378A>G (p.Asn793Ser)
2g.135807219T>GCA348597539LCTc.4082A>C (p.Asn1361Thr)
c.2378A>C (p.Asn793Thr)
 gnomAD v4
2g.135807220T>ACA348597540LCTc.4081A>T (p.Asn1361Tyr)
c.2377A>T (p.Asn793Tyr)
2g.135807220T>CCA348597541LCTc.4081A>G (p.Asn1361Asp)
c.2377A>G (p.Asn793Asp)
2g.135807220T>GCA348597542LCTc.4081A>C (p.Asn1361His)
c.2377A>C (p.Asn793His)
2g.135807221G>ACA429203474LCTc.4080C>T (p.Thr1360=)
c.2376C>T (p.Thr792=)
 dbSNP gnomAD v2 gnomAD v4
2g.135807221G>CCA429203471LCTc.4080C>G (p.Thr1360=)
c.2376C>G (p.Thr792=)
2g.135807221G=CA1290830379LCTc.4080C= (p.Thr1360=)
c.2376C= (p.Thr792=)
2g.135807221G>TCA1887921LCTc.4080C>A (p.Thr1360=)
c.2376C>A (p.Thr792=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135807222G>ACA1887922LCTc.4079C>T (p.Thr1360Ile)
c.2375C>T (p.Thr792Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807222G>CCA56611507LCTc.4079C>G (p.Thr1360Ser)
c.2375C>G (p.Thr792Ser)
 dbSNP
2g.135807222G=CA1290830380LCTc.4079C= (p.Thr1360=)
c.2375C= (p.Thr792=)
2g.135807222G>TCA348597543LCTc.4079C>A (p.Thr1360Asn)
c.2375C>A (p.Thr792Asn)
2g.135807223T>ACA348597544LCTc.4078A>T (p.Thr1360Ser)
c.2374A>T (p.Thr792Ser)
2g.135807223T>CCA348597545LCTc.4078A>G (p.Thr1360Ala)
c.2374A>G (p.Thr792Ala)
2g.135807223T>GCA348597546LCTc.4078A>C (p.Thr1360Pro)
c.2374A>C (p.Thr792Pro)
2g.135807224A=CA1290830381LCTc.4077T= (p.Ile1359=)
c.2373T= (p.Ile791=)
2g.135807224A>CCA348597547LCTc.4077T>G (p.Ile1359Met)
c.2373T>G (p.Ile791Met)
2g.135807224A>GCA429203487LCTc.4077T>C (p.Ile1359=)
c.2373T>C (p.Ile791=)
 dbSNP
2g.135807224A>TCA429203488LCTc.4077T>A (p.Ile1359=)
c.2373T>A (p.Ile791=)
2g.135807225A>CCA348597548LCTc.4076T>G (p.Ile1359Ser)
c.2372T>G (p.Ile791Ser)
2g.135807225A>GCA348597550LCTc.4076T>C (p.Ile1359Thr)
c.2372T>C (p.Ile791Thr)
2g.135807225A>TCA348597549LCTc.4076T>A (p.Ile1359Asn)
c.2372T>A (p.Ile791Asn)
2g.135807226T>ACA348597551LCTc.4075A>T (p.Ile1359Phe)
c.2371A>T (p.Ile791Phe)
2g.135807226T>CCA348597552LCTc.4075A>G (p.Ile1359Val)
c.2371A>G (p.Ile791Val)
 gnomAD v4
2g.135807226T>GCA348597553LCTc.4075A>C (p.Ile1359Leu)
c.2371A>C (p.Ile791Leu)
2g.135807227G>ACA429203493LCTc.4074C>T (p.Val1358=)
c.2370C>T (p.Val790=)
2g.135807227G>CCA1887923LCTc.4074C>G (p.Val1358=)
c.2370C>G (p.Val790=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135807227G=CA1290830382LCTc.4074C= (p.Val1358=)
c.2370C= (p.Val790=)
2g.135807227G>TCA429203494LCTc.4074C>A (p.Val1358=)
c.2370C>A (p.Val790=)
2g.135807228A>CCA348597554LCTc.4073T>G (p.Val1358Gly)
c.2369T>G (p.Val790Gly)
2g.135807228A>GCA348597555LCTc.4073T>C (p.Val1358Ala)
c.2369T>C (p.Val790Ala)
2g.135807228A>TCA348597556LCTc.4073T>A (p.Val1358Asp)
c.2369T>A (p.Val790Asp)
 COSMIC
2g.135807229C>ACA348597557LCTc.4072G>T (p.Val1358Phe)
c.2368G>T (p.Val790Phe)
 dbSNP gnomAD v2
2g.135807229C=CA1290830383LCTc.4072G= (p.Val1358=)
c.2368G= (p.Val790=)
2g.135807229C>GCA348597558LCTc.4072G>C (p.Val1358Leu)
c.2368G>C (p.Val790Leu)
2g.135807229C>TCA1887924LCTc.4072G>A (p.Val1358Ile)
c.2368G>A (p.Val790Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135807230C>ACA348597559LCTc.4071G>T (p.Glu1357Asp)
c.2367G>T (p.Glu789Asp)
2g.135807230C=CA1290830384LCTc.4071G= (p.Glu1357=)
c.2367G= (p.Glu789=)
2g.135807230C>GCA56611516LCTc.4071G>C (p.Glu1357Asp)
c.2367G>C (p.Glu789Asp)
 dbSNP
2g.135807230C>TCA56611519LCTc.4071G>A (p.Glu1357=)
c.2367G>A (p.Glu789=)
 dbSNP gnomAD v4
2g.135807231T>ACA348597560LCTc.4070A>T (p.Glu1357Val)
c.2366A>T (p.Glu789Val)
2g.135807231T>CCA348597562LCTc.4070A>G (p.Glu1357Gly)
c.2366A>G (p.Glu789Gly)
 gnomAD v4
2g.135807231T>GCA348597561LCTc.4070A>C (p.Glu1357Ala)
c.2366A>C (p.Glu789Ala)

Number of alleles fetched