Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132892217A>CCA360928554AFF4c.2584T>G (p.Ser862Ala)
c.1450T>G (p.Ser484Ala)
c.2497T>G (p.Ser833Ala)
5g.132892217A>GCA360928556AFF4c.2584T>C (p.Ser862Pro)
c.1450T>C (p.Ser484Pro)
c.2497T>C (p.Ser833Pro)
5g.132892217A>TCA360928559AFF4c.2584T>A (p.Ser862Thr)
c.1450T>A (p.Ser484Thr)
c.2497T>A (p.Ser833Thr)
5g.132892218T>ACA446498849AFF4c.2583A>T (p.Thr861=)
c.1449A>T (p.Thr483=)
c.2496A>T (p.Thr832=)
5g.132892218T>CCA446498850AFF4c.2583A>G (p.Thr861=)
c.1449A>G (p.Thr483=)
c.2496A>G (p.Thr832=)
5g.132892218T>GCA446498851AFF4c.2583A>C (p.Thr861=)
c.1449A>C (p.Thr483=)
c.2496A>C (p.Thr832=)
5g.132892219G>ACA360928561AFF4c.2582C>T (p.Thr861Ile)
c.1448C>T (p.Thr483Ile)
c.2495C>T (p.Thr832Ile)
5g.132892219G>CCA360928564AFF4c.2582C>G (p.Thr861Arg)
c.1448C>G (p.Thr483Arg)
c.2495C>G (p.Thr832Arg)
5g.132892219G>TCA360928566AFF4c.2582C>A (p.Thr861Lys)
c.1448C>A (p.Thr483Lys)
c.2495C>A (p.Thr832Lys)
5g.132892220T>ACA360928570AFF4c.2581A>T (p.Thr861Ser)
c.1447A>T (p.Thr483Ser)
c.2494A>T (p.Thr832Ser)
5g.132892220T>CCA360928572AFF4c.2581A>G (p.Thr861Ala)
c.1447A>G (p.Thr483Ala)
c.2494A>G (p.Thr832Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.132892220T>GCA360928575AFF4c.2581A>C (p.Thr861Pro)
c.1447A>C (p.Thr483Pro)
c.2494A>C (p.Thr832Pro)
5g.132892220T=CA1583372471AFF4c.2581A= (p.Thr861=)
c.1447A= (p.Thr483=)
c.2494A= (p.Thr832=)
5g.132892221G>ACA446498852AFF4c.2580C>T (p.Ser860=)
c.1446C>T (p.Ser482=)
c.2493C>T (p.Ser831=)
5g.132892221G>CCA446498853AFF4c.2580C>G (p.Ser860=)
c.1446C>G (p.Ser482=)
c.2493C>G (p.Ser831=)
5g.132892221G>TCA446498854AFF4c.2580C>A (p.Ser860=)
c.1446C>A (p.Ser482=)
c.2493C>A (p.Ser831=)
5g.132892222G>ACA360928581AFF4c.2579C>T (p.Ser860Phe)
c.1445C>T (p.Ser482Phe)
c.2492C>T (p.Ser831Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.132892222G>CCA360928582AFF4c.2579C>G (p.Ser860Cys)
c.1445C>G (p.Ser482Cys)
c.2492C>G (p.Ser831Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.132892222G=CA1583372472AFF4c.2579C= (p.Ser860=)
c.1445C= (p.Ser482=)
c.2492C= (p.Ser831=)
5g.132892222G>TCA360928579AFF4c.2579C>A (p.Ser860Tyr)
c.1445C>A (p.Ser482Tyr)
c.2492C>A (p.Ser831Tyr)
5g.132892223A=CA1583372473AFF4c.2578T= (p.Ser860=)
c.1444T= (p.Ser482=)
c.2491T= (p.Ser831=)
5g.132892223A>CCA3408897AFF4c.2578T>G (p.Ser860Ala)
c.1444T>G (p.Ser482Ala)
c.2491T>G (p.Ser831Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892223A>GCA360928585AFF4c.2578T>C (p.Ser860Pro)
c.1444T>C (p.Ser482Pro)
c.2491T>C (p.Ser831Pro)
5g.132892223A>TCA360928589AFF4c.2578T>A (p.Ser860Thr)
c.1444T>A (p.Ser482Thr)
c.2491T>A (p.Ser831Thr)
5g.132892224G>ACA3408898AFF4c.2577C>T (p.Ser859=)
c.1443C>T (p.Ser481=)
c.2490C>T (p.Ser830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892224G>CCA446498855AFF4c.2577C>G (p.Ser859=)
c.1443C>G (p.Ser481=)
c.2490C>G (p.Ser830=)
5g.132892224G=CA1583372474AFF4c.2577C= (p.Ser859=)
c.1443C= (p.Ser481=)
c.2490C= (p.Ser830=)
5g.132892224G>TCA446498856AFF4c.2577C>A (p.Ser859=)
c.1443C>A (p.Ser481=)
c.2490C>A (p.Ser830=)
 gnomAD v4
5g.132892225G>ACA360928597AFF4c.2576C>T (p.Ser859Phe)
c.1442C>T (p.Ser481Phe)
c.2489C>T (p.Ser830Phe)
5g.132892225G>CCA360928601AFF4c.2576C>G (p.Ser859Cys)
c.1442C>G (p.Ser481Cys)
c.2489C>G (p.Ser830Cys)
 dbSNP
5g.132892225G=CA1583372475AFF4c.2576C= (p.Ser859=)
c.1442C= (p.Ser481=)
c.2489C= (p.Ser830=)
5g.132892225G>TCA360928604AFF4c.2576C>A (p.Ser859Tyr)
c.1442C>A (p.Ser481Tyr)
c.2489C>A (p.Ser830Tyr)
5g.132892226A>CCA360928612AFF4c.2575T>G (p.Ser859Ala)
c.1441T>G (p.Ser481Ala)
c.2488T>G (p.Ser830Ala)
5g.132892226A>GCA360928614AFF4c.2575T>C (p.Ser859Pro)
c.1441T>C (p.Ser481Pro)
c.2488T>C (p.Ser830Pro)
 gnomAD v4
5g.132892226A>TCA360928616AFF4c.2575T>A (p.Ser859Thr)
c.1441T>A (p.Ser481Thr)
c.2488T>A (p.Ser830Thr)
5g.132892227A>CCA360928619AFF4c.2574T>G (p.Ser858Arg)
c.1440T>G (p.Ser480Arg)
c.2487T>G (p.Ser829Arg)
5g.132892227A>GCA446498857AFF4c.2574T>C (p.Ser858=)
c.1440T>C (p.Ser480=)
c.2487T>C (p.Ser829=)
5g.132892227A>TCA360928622AFF4c.2574T>A (p.Ser858Arg)
c.1440T>A (p.Ser480Arg)
c.2487T>A (p.Ser829Arg)
5g.132892228C>ACA360928629AFF4c.2573G>T (p.Ser858Ile)
c.1439G>T (p.Ser480Ile)
c.2486G>T (p.Ser829Ile)
5g.132892228C>GCA360928627AFF4c.2573G>C (p.Ser858Thr)
c.1439G>C (p.Ser480Thr)
c.2486G>C (p.Ser829Thr)
 gnomAD v4
5g.132892228C>TCA360928624AFF4c.2573G>A (p.Ser858Asn)
c.1439G>A (p.Ser480Asn)
c.2486G>A (p.Ser829Asn)
 gnomAD v4
5g.132892229T>ACA360928633AFF4c.2572A>T (p.Ser858Cys)
c.1438A>T (p.Ser480Cys)
c.2485A>T (p.Ser829Cys)
5g.132892229T>CCA360928636AFF4c.2572A>G (p.Ser858Gly)
c.1438A>G (p.Ser480Gly)
c.2485A>G (p.Ser829Gly)
 gnomAD v4
5g.132892229T>GCA3408899AFF4c.2572A>C (p.Ser858Arg)
c.1438A>C (p.Ser480Arg)
c.2485A>C (p.Ser829Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892229T=CA1583372476AFF4c.2572A= (p.Ser858=)
c.1438A= (p.Ser480=)
c.2485A= (p.Ser829=)
5g.132892230G>ACA446498858AFF4c.2571C>T (p.Asn857=)
c.1437C>T (p.Asn479=)
c.2484C>T (p.Asn828=)
5g.132892230G>CCA3408900AFF4c.2571C>G (p.Asn857Lys)
c.1437C>G (p.Asn479Lys)
c.2484C>G (p.Asn828Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892230G=CA1583372477AFF4c.2571C= (p.Asn857=)
c.1437C= (p.Asn479=)
c.2484C= (p.Asn828=)
5g.132892230G>TCA360928642AFF4c.2571C>A (p.Asn857Lys)
c.1437C>A (p.Asn479Lys)
c.2484C>A (p.Asn828Lys)
5g.132892231T>ACA360928646AFF4c.2570A>T (p.Asn857Ile)
c.1436A>T (p.Asn479Ile)
c.2483A>T (p.Asn828Ile)
5g.132892231T>CCA360928650AFF4c.2570A>G (p.Asn857Ser)
c.1436A>G (p.Asn479Ser)
c.2483A>G (p.Asn828Ser)
5g.132892231T>GCA360928654AFF4c.2570A>C (p.Asn857Thr)
c.1436A>C (p.Asn479Thr)
c.2483A>C (p.Asn828Thr)
5g.132892232T>ACA360928662AFF4c.2569A>T (p.Asn857Tyr)
c.1435A>T (p.Asn479Tyr)
c.2482A>T (p.Asn828Tyr)
5g.132892232T>CCA360928664AFF4c.2569A>G (p.Asn857Asp)
c.1435A>G (p.Asn479Asp)
c.2482A>G (p.Asn828Asp)
5g.132892232T>GCA360928666AFF4c.2569A>C (p.Asn857His)
c.1435A>C (p.Asn479His)
c.2482A>C (p.Asn828His)
5g.132892233T>ACA360928670AFF4c.2568A>T (p.Lys856Asn)
c.1434A>T (p.Lys478Asn)
c.2481A>T (p.Lys827Asn)
5g.132892233T>CCA446498859AFF4c.2568A>G (p.Lys856=)
c.1434A>G (p.Lys478=)
c.2481A>G (p.Lys827=)
5g.132892233T>GCA360928677AFF4c.2568A>C (p.Lys856Asn)
c.1434A>C (p.Lys478Asn)
c.2481A>C (p.Lys827Asn)
 COSMIC
5g.132892234T>ACA360928682AFF4c.2567A>T (p.Lys856Ile)
c.1433A>T (p.Lys478Ile)
c.2480A>T (p.Lys827Ile)
5g.132892234T>CCA3408901AFF4c.2567A>G (p.Lys856Arg)
c.1433A>G (p.Lys478Arg)
c.2480A>G (p.Lys827Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892234T>GCA360928680AFF4c.2567A>C (p.Lys856Thr)
c.1433A>C (p.Lys478Thr)
c.2480A>C (p.Lys827Thr)
5g.132892234T=CA1583372478AFF4c.2567A= (p.Lys856=)
c.1433A= (p.Lys478=)
c.2480A= (p.Lys827=)
5g.132892235T>ACA360928684AFF4c.2566A>T (p.Lys856Ter)
c.1432A>T (p.Lys478Ter)
c.2479A>T (p.Lys827Ter)
5g.132892235T>CCA360928686AFF4c.2566A>G (p.Lys856Glu)
c.1432A>G (p.Lys478Glu)
c.2479A>G (p.Lys827Glu)
 gnomAD v4
5g.132892235T>GCA360928687AFF4c.2566A>C (p.Lys856Gln)
c.1432A>C (p.Lys478Gln)
c.2479A>C (p.Lys827Gln)
5g.132892236G>ACA446498860AFF4c.2565C>T (p.Ser855=)
c.1431C>T (p.Ser477=)
c.2478C>T (p.Ser826=)
5g.132892236G>CCA360928688AFF4c.2565C>G (p.Ser855Arg)
c.1431C>G (p.Ser477Arg)
c.2478C>G (p.Ser826Arg)
 gnomAD v4
5g.132892236G>TCA360928691AFF4c.2565C>A (p.Ser855Arg)
c.1431C>A (p.Ser477Arg)
c.2478C>A (p.Ser826Arg)
5g.132892237C>ACA360928697AFF4c.2564G>T (p.Ser855Ile)
c.1430G>T (p.Ser477Ile)
c.2477G>T (p.Ser826Ile)
5g.132892237C>GCA360928698AFF4c.2564G>C (p.Ser855Thr)
c.1430G>C (p.Ser477Thr)
c.2477G>C (p.Ser826Thr)
5g.132892237C>TCA360928700AFF4c.2564G>A (p.Ser855Asn)
c.1430G>A (p.Ser477Asn)
c.2477G>A (p.Ser826Asn)
 gnomAD v4
5g.132892238T>ACA360928704AFF4c.2563A>T (p.Ser855Cys)
c.1429A>T (p.Ser477Cys)
c.2476A>T (p.Ser826Cys)
5g.132892238T>CCA360928710AFF4c.2563A>G (p.Ser855Gly)
c.1429A>G (p.Ser477Gly)
c.2476A>G (p.Ser826Gly)
5g.132892238T>GCA360928713AFF4c.2563A>C (p.Ser855Arg)
c.1429A>C (p.Ser477Arg)
c.2476A>C (p.Ser826Arg)
 gnomAD v4
5g.132892239G>ACA446498861AFF4c.2562C>T (p.Ser854=)
c.1428C>T (p.Ser476=)
c.2475C>T (p.Ser825=)
5g.132892239G>CCA360928715AFF4c.2562C>G (p.Ser854Arg)
c.1428C>G (p.Ser476Arg)
c.2475C>G (p.Ser825Arg)
5g.132892239G>TCA360928718AFF4c.2562C>A (p.Ser854Arg)
c.1428C>A (p.Ser476Arg)
c.2475C>A (p.Ser825Arg)
5g.132892240C>ACA360928722AFF4c.2561G>T (p.Ser854Ile)
c.1427G>T (p.Ser476Ile)
c.2474G>T (p.Ser825Ile)
5g.132892240C=CA1583372479AFF4c.2561G= (p.Ser854=)
c.1427G= (p.Ser476=)
c.2474G= (p.Ser825=)
5g.132892240C>GCA360928726AFF4c.2561G>C (p.Ser854Thr)
c.1427G>C (p.Ser476Thr)
c.2474G>C (p.Ser825Thr)
5g.132892240C>TCA3408902AFF4c.2561G>A (p.Ser854Asn)
c.1427G>A (p.Ser476Asn)
c.2474G>A (p.Ser825Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892241T>ACA360928759AFF4c.2560A>T (p.Ser854Cys)
c.1426A>T (p.Ser476Cys)
c.2473A>T (p.Ser825Cys)
5g.132892241T>CCA360928763AFF4c.2560A>G (p.Ser854Gly)
c.1426A>G (p.Ser476Gly)
c.2473A>G (p.Ser825Gly)
5g.132892241T>GCA360928770AFF4c.2560A>C (p.Ser854Arg)
c.1426A>C (p.Ser476Arg)
c.2473A>C (p.Ser825Arg)
5g.132892242G>ACA446498862AFF4c.2559C>T (p.Gly853=)
c.1425C>T (p.Gly475=)
c.2472C>T (p.Gly824=)
5g.132892242G>CCA446498863AFF4c.2559C>G (p.Gly853=)
c.1425C>G (p.Gly475=)
c.2472C>G (p.Gly824=)
5g.132892242G>TCA446498864AFF4c.2559C>A (p.Gly853=)
c.1425C>A (p.Gly475=)
c.2472C>A (p.Gly824=)
 COSMIC
5g.132892243C>ACA360928772AFF4c.2558G>T (p.Gly853Val)
c.1424G>T (p.Gly475Val)
c.2471G>T (p.Gly824Val)
5g.132892243C>GCA360928776AFF4c.2558G>C (p.Gly853Ala)
c.1424G>C (p.Gly475Ala)
c.2471G>C (p.Gly824Ala)
 gnomAD v4
5g.132892243C>TCA360928780AFF4c.2558G>A (p.Gly853Asp)
c.1424G>A (p.Gly475Asp)
c.2471G>A (p.Gly824Asp)
5g.132892244C>ACA360928791AFF4c.2557G>T (p.Gly853Cys)
c.1423G>T (p.Gly475Cys)
c.2470G>T (p.Gly824Cys)
5g.132892244C>GCA360928786AFF4c.2557G>C (p.Gly853Arg)
c.1423G>C (p.Gly475Arg)
c.2470G>C (p.Gly824Arg)
5g.132892244C>TCA360928788AFF4c.2557G>A (p.Gly853Ser)
c.1423G>A (p.Gly475Ser)
c.2470G>A (p.Gly824Ser)
5g.132892245A=CA1583372480AFF4c.2556T= (p.Ser852=)
c.1422T= (p.Ser474=)
c.2469T= (p.Ser823=)
5g.132892245A>CCA360928792AFF4c.2556T>G (p.Ser852Arg)
c.1422T>G (p.Ser474Arg)
c.2469T>G (p.Ser823Arg)
5g.132892245A>GCA446498865AFF4c.2556T>C (p.Ser852=)
c.1422T>C (p.Ser474=)
c.2469T>C (p.Ser823=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892245A>TCA360928795AFF4c.2556T>A (p.Ser852Arg)
c.1422T>A (p.Ser474Arg)
c.2469T>A (p.Ser823Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.132892246C>ACA360928798AFF4c.2555G>T (p.Ser852Ile)
c.1421G>T (p.Ser474Ile)
c.2468G>T (p.Ser823Ile)
5g.132892246C>GCA360928802AFF4c.2555G>C (p.Ser852Thr)
c.1421G>C (p.Ser474Thr)
c.2468G>C (p.Ser823Thr)
5g.132892246C>TCA360928805AFF4c.2555G>A (p.Ser852Asn)
c.1421G>A (p.Ser474Asn)
c.2468G>A (p.Ser823Asn)
 gnomAD v4
5g.132892247T>ACA360928818AFF4c.2554A>T (p.Ser852Cys)
c.1420A>T (p.Ser474Cys)
c.2467A>T (p.Ser823Cys)
 gnomAD v4
5g.132892247T>CCA360928816AFF4c.2554A>G (p.Ser852Gly)
c.1420A>G (p.Ser474Gly)
c.2467A>G (p.Ser823Gly)
 dbSNP
5g.132892247T>GCA360928815AFF4c.2554A>C (p.Ser852Arg)
c.1420A>C (p.Ser474Arg)
c.2467A>C (p.Ser823Arg)
5g.132892247T=CA1583372481AFF4c.2554A= (p.Ser852=)
c.1420A= (p.Ser474=)
c.2467A= (p.Ser823=)
5g.132892248C>ACA446498866AFF4c.2553G>T (p.Thr851=)
c.1419G>T (p.Thr473=)
c.2466G>T (p.Thr822=)
5g.132892248C=CA1583372482AFF4c.2553G= (p.Thr851=)
c.1419G= (p.Thr473=)
c.2466G= (p.Thr822=)
5g.132892248C>GCA446498867AFF4c.2553G>C (p.Thr851=)
c.1419G>C (p.Thr473=)
c.2466G>C (p.Thr822=)
5g.132892248C>TCA3408903AFF4c.2553G>A (p.Thr851=)
c.1419G>A (p.Thr473=)
c.2466G>A (p.Thr822=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892249G>ACA3408904AFF4c.2552C>T (p.Thr851Met)
c.1418C>T (p.Thr473Met)
c.2465C>T (p.Thr822Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.132892249G>CCA360928821AFF4c.2552C>G (p.Thr851Arg)
c.1418C>G (p.Thr473Arg)
c.2465C>G (p.Thr822Arg)
5g.132892249G=CA1583372483AFF4c.2552C= (p.Thr851=)
c.1418C= (p.Thr473=)
c.2465C= (p.Thr822=)
5g.132892249G>TCA360928826AFF4c.2552C>A (p.Thr851Lys)
c.1418C>A (p.Thr473Lys)
c.2465C>A (p.Thr822Lys)
5g.132892250T>ACA360928839AFF4c.2551A>T (p.Thr851Ser)
c.1417A>T (p.Thr473Ser)
c.2464A>T (p.Thr822Ser)
 gnomAD v4
5g.132892250T>CCA360928842AFF4c.2551A>G (p.Thr851Ala)
c.1417A>G (p.Thr473Ala)
c.2464A>G (p.Thr822Ala)
5g.132892250T>GCA360928843AFF4c.2551A>C (p.Thr851Pro)
c.1417A>C (p.Thr473Pro)
c.2464A>C (p.Thr822Pro)
5g.132892251C>ACA360928847AFF4c.2550G>T (p.Glu850Asp)
c.1416G>T (p.Glu472Asp)
c.2463G>T (p.Glu821Asp)
5g.132892251C>GCA360928853AFF4c.2550G>C (p.Glu850Asp)
c.1416G>C (p.Glu472Asp)
c.2463G>C (p.Glu821Asp)
5g.132892251C>TCA446498868AFF4c.2550G>A (p.Glu850=)
c.1416G>A (p.Glu472=)
c.2463G>A (p.Glu821=)
5g.132892252T>ACA360928855AFF4c.2549A>T (p.Glu850Val)
c.1415A>T (p.Glu472Val)
c.2462A>T (p.Glu821Val)
5g.132892252T>CCA360928857AFF4c.2549A>G (p.Glu850Gly)
c.1415A>G (p.Glu472Gly)
c.2462A>G (p.Glu821Gly)
 dbSNP
5g.132892252T>GCA360928858AFF4c.2549A>C (p.Glu850Ala)
c.1415A>C (p.Glu472Ala)
c.2462A>C (p.Glu821Ala)
5g.132892253C>ACA360928861AFF4c.2548G>T (p.Glu850Ter)
c.1414G>T (p.Glu472Ter)
c.2461G>T (p.Glu821Ter)
5g.132892253C>GCA360928863AFF4c.2548G>C (p.Glu850Gln)
c.1414G>C (p.Glu472Gln)
c.2461G>C (p.Glu821Gln)
5g.132892253C>TCA360928866AFF4c.2548G>A (p.Glu850Lys)
c.1414G>A (p.Glu472Lys)
c.2461G>A (p.Glu821Lys)
5g.132892254C>ACA360928875AFF4c.2547G>T (p.Lys849Asn)
c.1413G>T (p.Lys471Asn)
c.2460G>T (p.Lys820Asn)
5g.132892254C>GCA360928882AFF4c.2547G>C (p.Lys849Asn)
c.1413G>C (p.Lys471Asn)
c.2460G>C (p.Lys820Asn)
 ClinVar gnomAD v4
5g.132892254C>TCA446498869AFF4c.2547G>A (p.Lys849=)
c.1413G>A (p.Lys471=)
c.2460G>A (p.Lys820=)
 gnomAD v4
5g.132892254_132892256delCA2675252574AFF4c.2545_2547del (p.Lys849del)
c.1411_1413del (p.Lys471del)
c.2458_2460del (p.Lys820del)
 gnomAD v4
5g.132892255T>ACA360928887AFF4c.2546A>T (p.Lys849Met)
c.1412A>T (p.Lys471Met)
c.2459A>T (p.Lys820Met)
 gnomAD v4
5g.132892255T>CCA360928892AFF4c.2546A>G (p.Lys849Arg)
c.1412A>G (p.Lys471Arg)
c.2459A>G (p.Lys820Arg)
 dbSNP gnomAD v4
5g.132892255T>GCA360928889AFF4c.2546A>C (p.Lys849Thr)
c.1412A>C (p.Lys471Thr)
c.2459A>C (p.Lys820Thr)
5g.132892255T=CA1583372484AFF4c.2546A= (p.Lys849=)
c.1412A= (p.Lys471=)
c.2459A= (p.Lys820=)
5g.132892256T>ACA360928893AFF4c.2545A>T (p.Lys849Ter)
c.1411A>T (p.Lys471Ter)
c.2458A>T (p.Lys820Ter)
5g.132892256T>CCA360928894AFF4c.2545A>G (p.Lys849Glu)
c.1411A>G (p.Lys471Glu)
c.2458A>G (p.Lys820Glu)
 gnomAD v4
5g.132892256T>GCA360928896AFF4c.2545A>C (p.Lys849Gln)
c.1411A>C (p.Lys471Gln)
c.2458A>C (p.Lys820Gln)
5g.132892257G>ACA446498870AFF4c.2544C>T (p.Asn848=)
c.1410C>T (p.Asn470=)
c.2457C>T (p.Asn819=)
5g.132892257G>CCA360928899AFF4c.2544C>G (p.Asn848Lys)
c.1410C>G (p.Asn470Lys)
c.2457C>G (p.Asn819Lys)
5g.132892257G>TCA360928903AFF4c.2544C>A (p.Asn848Lys)
c.1410C>A (p.Asn470Lys)
c.2457C>A (p.Asn819Lys)
5g.132892258T>ACA360928906AFF4c.2543A>T (p.Asn848Ile)
c.1409A>T (p.Asn470Ile)
c.2456A>T (p.Asn819Ile)
5g.132892258T>CCA360928907AFF4c.2543A>G (p.Asn848Ser)
c.1409A>G (p.Asn470Ser)
c.2456A>G (p.Asn819Ser)
5g.132892258T>GCA360928908AFF4c.2543A>C (p.Asn848Thr)
c.1409A>C (p.Asn470Thr)
c.2456A>C (p.Asn819Thr)
 dbSNP
5g.132892259T>ACA360928909AFF4c.2542A>T (p.Asn848Tyr)
c.1408A>T (p.Asn470Tyr)
c.2455A>T (p.Asn819Tyr)
5g.132892259T>CCA360928912AFF4c.2542A>G (p.Asn848Asp)
c.1408A>G (p.Asn470Asp)
c.2455A>G (p.Asn819Asp)
5g.132892259T>GCA360928921AFF4c.2542A>C (p.Asn848His)
c.1408A>C (p.Asn470His)
c.2455A>C (p.Asn819His)
5g.132892260G>ACA446498871AFF4c.2541C>T (p.Ser847=)
c.1407C>T (p.Ser469=)
c.2454C>T (p.Ser818=)
5g.132892260G>CCA360928930AFF4c.2541C>G (p.Ser847Arg)
c.1407C>G (p.Ser469Arg)
c.2454C>G (p.Ser818Arg)
5g.132892260G>TCA360928924AFF4c.2541C>A (p.Ser847Arg)
c.1407C>A (p.Ser469Arg)
c.2454C>A (p.Ser818Arg)
5g.132892261C>ACA360928931AFF4c.2540G>T (p.Ser847Ile)
c.1406G>T (p.Ser469Ile)
c.2453G>T (p.Ser818Ile)
5g.132892261C=CA1583372485AFF4c.2540G= (p.Ser847=)
c.1406G= (p.Ser469=)
c.2453G= (p.Ser818=)
5g.132892261C>GCA360928932AFF4c.2540G>C (p.Ser847Thr)
c.1406G>C (p.Ser469Thr)
c.2453G>C (p.Ser818Thr)
5g.132892261C>TCA3408905AFF4c.2540G>A (p.Ser847Asn)
c.1406G>A (p.Ser469Asn)
c.2453G>A (p.Ser818Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892262delCA2675252575AFF4c.2539del (p.Ser847AlafsTer?)
c.1405del (p.Ser469AlafsTer?)
c.2452del (p.Ser818AlafsTer?)
 gnomAD v4
5g.132892262T>ACA360928936AFF4c.2539A>T (p.Ser847Cys)
c.1405A>T (p.Ser469Cys)
c.2452A>T (p.Ser818Cys)
 dbSNP gnomAD v4
5g.132892262T>CCA360928938AFF4c.2539A>G (p.Ser847Gly)
c.1405A>G (p.Ser469Gly)
c.2452A>G (p.Ser818Gly)
5g.132892262T>GCA360928941AFF4c.2539A>C (p.Ser847Arg)
c.1405A>C (p.Ser469Arg)
c.2452A>C (p.Ser818Arg)
5g.132892262T=CA1583372486AFF4c.2539A= (p.Ser847=)
c.1405A= (p.Ser469=)
c.2452A= (p.Ser818=)
5g.132892263G>ACA446498872AFF4c.2538C>T (p.Asn846=)
c.1404C>T (p.Asn468=)
c.2451C>T (p.Asn817=)
5g.132892263G>CCA360928944AFF4c.2538C>G (p.Asn846Lys)
c.1404C>G (p.Asn468Lys)
c.2451C>G (p.Asn817Lys)
5g.132892263G>TCA360928949AFF4c.2538C>A (p.Asn846Lys)
c.1404C>A (p.Asn468Lys)
c.2451C>A (p.Asn817Lys)
5g.132892264T>ACA360928953AFF4c.2537A>T (p.Asn846Ile)
c.1403A>T (p.Asn468Ile)
c.2450A>T (p.Asn817Ile)
 dbSNP
5g.132892264T>CCA360928955AFF4c.2537A>G (p.Asn846Ser)
c.1403A>G (p.Asn468Ser)
c.2450A>G (p.Asn817Ser)
5g.132892264T>GCA360928957AFF4c.2537A>C (p.Asn846Thr)
c.1403A>C (p.Asn468Thr)
c.2450A>C (p.Asn817Thr)
5g.132892264T=CA1583372487AFF4c.2537A= (p.Asn846=)
c.1403A= (p.Asn468=)
c.2450A= (p.Asn817=)
5g.132892265T>ACA360928960AFF4c.2536A>T (p.Asn846Tyr)
c.1402A>T (p.Asn468Tyr)
c.2449A>T (p.Asn817Tyr)
5g.132892265T>CCA360928967AFF4c.2536A>G (p.Asn846Asp)
c.1402A>G (p.Asn468Asp)
c.2449A>G (p.Asn817Asp)
5g.132892265T>GCA360928969AFF4c.2536A>C (p.Asn846His)
c.1402A>C (p.Asn468His)
c.2449A>C (p.Asn817His)
5g.132892266A>CCA360928972AFF4c.2535T>G (p.Ser845Arg)
c.1401T>G (p.Ser467Arg)
c.2448T>G (p.Ser816Arg)
5g.132892266A>GCA446498873AFF4c.2535T>C (p.Ser845=)
c.1401T>C (p.Ser467=)
c.2448T>C (p.Ser816=)
5g.132892266A>TCA360928971AFF4c.2535T>A (p.Ser845Arg)
c.1401T>A (p.Ser467Arg)
c.2448T>A (p.Ser816Arg)
5g.132892267C>ACA360928974AFF4c.2534G>T (p.Ser845Ile)
c.1400G>T (p.Ser467Ile)
c.2447G>T (p.Ser816Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892267C=CA1583372488AFF4c.2534G= (p.Ser845=)
c.1400G= (p.Ser467=)
c.2447G= (p.Ser816=)
5g.132892267C>GCA360928975AFF4c.2534G>C (p.Ser845Thr)
c.1400G>C (p.Ser467Thr)
c.2447G>C (p.Ser816Thr)
5g.132892267C>TCA360928978AFF4c.2534G>A (p.Ser845Asn)
c.1400G>A (p.Ser467Asn)
c.2447G>A (p.Ser816Asn)
 dbSNP
5g.132892268T>ACA360928980AFF4c.2533A>T (p.Ser845Cys)
c.1399A>T (p.Ser467Cys)
c.2446A>T (p.Ser816Cys)
5g.132892268T>CCA3408906AFF4c.2533A>G (p.Ser845Gly)
c.1399A>G (p.Ser467Gly)
c.2446A>G (p.Ser816Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892268T>GCA360928987AFF4c.2533A>C (p.Ser845Arg)
c.1399A>C (p.Ser467Arg)
c.2446A>C (p.Ser816Arg)
5g.132892268T=CA1583372489AFF4c.2533A= (p.Ser845=)
c.1399A= (p.Ser467=)
c.2446A= (p.Ser816=)
5g.132892269G>ACA446498874AFF4c.2532C>T (p.Ser844=)
c.1398C>T (p.Ser466=)
c.2445C>T (p.Ser815=)
5g.132892269G>CCA360928989AFF4c.2532C>G (p.Ser844Arg)
c.1398C>G (p.Ser466Arg)
c.2445C>G (p.Ser815Arg)
 gnomAD v4
5g.132892269G>TCA360928990AFF4c.2532C>A (p.Ser844Arg)
c.1398C>A (p.Ser466Arg)
c.2445C>A (p.Ser815Arg)
5g.132892270C>ACA360928991AFF4c.2531G>T (p.Ser844Ile)
c.1397G>T (p.Ser466Ile)
c.2444G>T (p.Ser815Ile)
5g.132892270C=CA1583372490AFF4c.2531G= (p.Ser844=)
c.1397G= (p.Ser466=)
c.2444G= (p.Ser815=)
5g.132892270C>GCA360928992AFF4c.2531G>C (p.Ser844Thr)
c.1397G>C (p.Ser466Thr)
c.2444G>C (p.Ser815Thr)
5g.132892270C>TCA360928993AFF4c.2531G>A (p.Ser844Asn)
c.1397G>A (p.Ser466Asn)
c.2444G>A (p.Ser815Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.132892271T>ACA360928994AFF4c.2530A>T (p.Ser844Cys)
c.1396A>T (p.Ser466Cys)
c.2443A>T (p.Ser815Cys)
5g.132892271T>CCA360928995AFF4c.2530A>G (p.Ser844Gly)
c.1396A>G (p.Ser466Gly)
c.2443A>G (p.Ser815Gly)
5g.132892271T>GCA360928999AFF4c.2530A>C (p.Ser844Arg)
c.1396A>C (p.Ser466Arg)
c.2443A>C (p.Ser815Arg)
5g.132892272T>ACA446498875AFF4c.2529A>T (p.Ser843=)
c.1395A>T (p.Ser465=)
c.2442A>T (p.Ser814=)
5g.132892272T>CCA3408907AFF4c.2529A>G (p.Ser843=)
c.1395A>G (p.Ser465=)
c.2442A>G (p.Ser814=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892272T>GCA446498876AFF4c.2529A>C (p.Ser843=)
c.1395A>C (p.Ser465=)
c.2442A>C (p.Ser814=)
 dbSNP
5g.132892272T=CA1583372491AFF4c.2529A= (p.Ser843=)
c.1395A= (p.Ser465=)
c.2442A= (p.Ser814=)
5g.132892273G>ACA360929005AFF4c.2528C>T (p.Ser843Leu)
c.1394C>T (p.Ser465Leu)
c.2441C>T (p.Ser814Leu)
5g.132892273G>CCA360929003AFF4c.2528C>G (p.Ser843Ter)
c.1394C>G (p.Ser465Ter)
c.2441C>G (p.Ser814Ter)
5g.132892273G>TCA360929007AFF4c.2528C>A (p.Ser843Ter)
c.1394C>A (p.Ser465Ter)
c.2441C>A (p.Ser814Ter)
5g.132892274A>CCA360929010AFF4c.2527T>G (p.Ser843Ala)
c.1393T>G (p.Ser465Ala)
c.2440T>G (p.Ser814Ala)
5g.132892274A>GCA360929017AFF4c.2527T>C (p.Ser843Pro)
c.1393T>C (p.Ser465Pro)
c.2440T>C (p.Ser814Pro)
 gnomAD v4
5g.132892274A>TCA360929019AFF4c.2527T>A (p.Ser843Thr)
c.1393T>A (p.Ser465Thr)
c.2440T>A (p.Ser814Thr)
5g.132892275C>ACA360929021AFF4c.2526G>T (p.Lys842Asn)
c.1392G>T (p.Lys464Asn)
c.2439G>T (p.Lys813Asn)
5g.132892275C=CA1583372492AFF4c.2526G= (p.Lys842=)
c.1392G= (p.Lys464=)
c.2439G= (p.Lys813=)
5g.132892275C>GCA360929022AFF4c.2526G>C (p.Lys842Asn)
c.1392G>C (p.Lys464Asn)
c.2439G>C (p.Lys813Asn)
5g.132892275C>TCA446498877AFF4c.2526G>A (p.Lys842=)
c.1392G>A (p.Lys464=)
c.2439G>A (p.Lys813=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892276T>ACA360929024AFF4c.2525A>T (p.Lys842Met)
c.1391A>T (p.Lys464Met)
c.2438A>T (p.Lys813Met)
5g.132892276T>CCA360929028AFF4c.2525A>G (p.Lys842Arg)
c.1391A>G (p.Lys464Arg)
c.2438A>G (p.Lys813Arg)
5g.132892276T>GCA360929030AFF4c.2525A>C (p.Lys842Thr)
c.1391A>C (p.Lys464Thr)
c.2438A>C (p.Lys813Thr)
 gnomAD v4
5g.132892277T>ACA360929033AFF4c.2524A>T (p.Lys842Ter)
c.1390A>T (p.Lys464Ter)
c.2437A>T (p.Lys813Ter)
5g.132892277T>CCA360929035AFF4c.2524A>G (p.Lys842Glu)
c.1390A>G (p.Lys464Glu)
c.2437A>G (p.Lys813Glu)
5g.132892277T>GCA360929037AFF4c.2524A>C (p.Lys842Gln)
c.1390A>C (p.Lys464Gln)
c.2437A>C (p.Lys813Gln)
5g.132892278T>ACA360929040AFF4c.2523A>T (p.Leu841Phe)
c.1389A>T (p.Leu463Phe)
c.2436A>T (p.Leu812Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892278T>CCA446498878AFF4c.2523A>G (p.Leu841=)
c.1389A>G (p.Leu463=)
c.2436A>G (p.Leu812=)
 gnomAD v4
5g.132892278T>GCA360929041AFF4c.2523A>C (p.Leu841Phe)
c.1389A>C (p.Leu463Phe)
c.2436A>C (p.Leu812Phe)
5g.132892278T=CA1583372493AFF4c.2523A= (p.Leu841=)
c.1389A= (p.Leu463=)
c.2436A= (p.Leu812=)
5g.132892279A>CCA360929043AFF4c.2522T>G (p.Leu841Ter)
c.1388T>G (p.Leu463Ter)
c.2435T>G (p.Leu812Ter)
5g.132892279A>GCA360929047AFF4c.2522T>C (p.Leu841Ser)
c.1388T>C (p.Leu463Ser)
c.2435T>C (p.Leu812Ser)
5g.132892279A>TCA360929045AFF4c.2522T>A (p.Leu841Ter)
c.1388T>A (p.Leu463Ter)
c.2435T>A (p.Leu812Ter)
5g.132892280A>CCA360929049AFF4c.2521T>G (p.Leu841Val)
c.1387T>G (p.Leu463Val)
c.2434T>G (p.Leu812Val)
5g.132892280A>GCA446498879AFF4c.2521T>C (p.Leu841=)
c.1387T>C (p.Leu463=)
c.2434T>C (p.Leu812=)
 ClinVar
5g.132892280A>TCA360929050AFF4c.2521T>A (p.Leu841Ile)
c.1387T>A (p.Leu463Ile)
c.2434T>A (p.Leu812Ile)
5g.132892281G>ACA446498880AFF4c.2520C>T (p.Ser840=)
c.1386C>T (p.Ser462=)
c.2433C>T (p.Ser811=)
 COSMIC
5g.132892281G>CCA446498882AFF4c.2520C>G (p.Ser840=)
c.1386C>G (p.Ser462=)
c.2433C>G (p.Ser811=)
 gnomAD v4
5g.132892281G>TCA446498881AFF4c.2520C>A (p.Ser840=)
c.1386C>A (p.Ser462=)
c.2433C>A (p.Ser811=)
5g.132892282G>ACA360929052AFF4c.2519C>T (p.Ser840Phe)
c.1385C>T (p.Ser462Phe)
c.2432C>T (p.Ser811Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892282G>CCA360929053AFF4c.2519C>G (p.Ser840Cys)
c.1385C>G (p.Ser462Cys)
c.2432C>G (p.Ser811Cys)
5g.132892282G=CA1583372494AFF4c.2519C= (p.Ser840=)
c.1385C= (p.Ser462=)
c.2432C= (p.Ser811=)
5g.132892282G>TCA360929055AFF4c.2519C>A (p.Ser840Tyr)
c.1385C>A (p.Ser462Tyr)
c.2432C>A (p.Ser811Tyr)
 gnomAD v4
5g.132892283A=CA1583372495AFF4c.2518T= (p.Ser840=)
c.1384T= (p.Ser462=)
c.2431T= (p.Ser811=)
5g.132892283A>CCA360929056AFF4c.2518T>G (p.Ser840Ala)
c.1384T>G (p.Ser462Ala)
c.2431T>G (p.Ser811Ala)
 dbSNP COSMIC
5g.132892283A>GCA360929057AFF4c.2518T>C (p.Ser840Pro)
c.1384T>C (p.Ser462Pro)
c.2431T>C (p.Ser811Pro)
5g.132892283A>TCA360929059AFF4c.2518T>A (p.Ser840Thr)
c.1384T>A (p.Ser462Thr)
c.2431T>A (p.Ser811Thr)
5g.132892284A>CCA446498883AFF4c.2517T>G (p.Ser839=)
c.1383T>G (p.Ser461=)
c.2430T>G (p.Ser810=)
5g.132892284A>GCA446498884AFF4c.2517T>C (p.Ser839=)
c.1383T>C (p.Ser461=)
c.2430T>C (p.Ser810=)
5g.132892284A>TCA446498885AFF4c.2517T>A (p.Ser839=)
c.1383T>A (p.Ser461=)
c.2430T>A (p.Ser810=)
5g.132892285G>ACA360929060AFF4c.2516C>T (p.Ser839Phe)
c.1382C>T (p.Ser461Phe)
c.2429C>T (p.Ser810Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.132892285G>CCA3408908AFF4c.2516C>G (p.Ser839Cys)
c.1382C>G (p.Ser461Cys)
c.2429C>G (p.Ser810Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892285G=CA1583372496AFF4c.2516C= (p.Ser839=)
c.1382C= (p.Ser461=)
c.2429C= (p.Ser810=)
5g.132892285G>TCA360929062AFF4c.2516C>A (p.Ser839Tyr)
c.1382C>A (p.Ser461Tyr)
c.2429C>A (p.Ser810Tyr)
 gnomAD v4
5g.132892286A>CCA360929066AFF4c.2515T>G (p.Ser839Ala)
c.1381T>G (p.Ser461Ala)
c.2428T>G (p.Ser810Ala)
5g.132892286A>GCA360929071AFF4c.2515T>C (p.Ser839Pro)
c.1381T>C (p.Ser461Pro)
c.2428T>C (p.Ser810Pro)
5g.132892286A>TCA360929064AFF4c.2515T>A (p.Ser839Thr)
c.1381T>A (p.Ser461Thr)
c.2428T>A (p.Ser810Thr)
5g.132892287A=CA1583372497AFF4c.2514T= (p.Ser838=)
c.1380T= (p.Ser460=)
c.2427T= (p.Ser809=)
5g.132892287A>CCA446498886AFF4c.2514T>G (p.Ser838=)
c.1380T>G (p.Ser460=)
c.2427T>G (p.Ser809=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892287A>GCA446498887AFF4c.2514T>C (p.Ser838=)
c.1380T>C (p.Ser460=)
c.2427T>C (p.Ser809=)
 gnomAD v4
5g.132892287A>TCA446498888AFF4c.2514T>A (p.Ser838=)
c.1380T>A (p.Ser460=)
c.2427T>A (p.Ser809=)
5g.132892288G>ACA3408909AFF4c.2513C>T (p.Ser838Phe)
c.1379C>T (p.Ser460Phe)
c.2426C>T (p.Ser809Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892288G>CCA360929078AFF4c.2513C>G (p.Ser838Cys)
c.1379C>G (p.Ser460Cys)
c.2426C>G (p.Ser809Cys)
5g.132892288G=CA1583372498AFF4c.2513C= (p.Ser838=)
c.1379C= (p.Ser460=)
c.2426C= (p.Ser809=)
5g.132892288G>TCA360929080AFF4c.2513C>A (p.Ser838Tyr)
c.1379C>A (p.Ser460Tyr)
c.2426C>A (p.Ser809Tyr)
5g.132892292_132892295delCA645566245AFF4c.2510_2513del (p.Gln837LeufsTer4)
c.1376_1379del (p.Gln459LeufsTer4)
c.2423_2426del (p.Gln808LeufsTer4)
 COSMIC
5g.132892289A>CCA360929087AFF4c.2512T>G (p.Ser838Ala)
c.1378T>G (p.Ser460Ala)
c.2425T>G (p.Ser809Ala)
5g.132892289A>GCA360929089AFF4c.2512T>C (p.Ser838Pro)
c.1378T>C (p.Ser460Pro)
c.2425T>C (p.Ser809Pro)
5g.132892289A>TCA360929097AFF4c.2512T>A (p.Ser838Thr)
c.1378T>A (p.Ser460Thr)
c.2425T>A (p.Ser809Thr)
5g.132892290C>ACA360929099AFF4c.2511G>T (p.Gln837His)
c.1377G>T (p.Gln459His)
c.2424G>T (p.Gln808His)
 gnomAD v4
5g.132892290C>GCA360929101AFF4c.2511G>C (p.Gln837His)
c.1377G>C (p.Gln459His)
c.2424G>C (p.Gln808His)
5g.132892290C>TCA446498889AFF4c.2511G>A (p.Gln837=)
c.1377G>A (p.Gln459=)
c.2424G>A (p.Gln808=)
5g.132892291T>ACA360929103AFF4c.2510A>T (p.Gln837Leu)
c.1376A>T (p.Gln459Leu)
c.2423A>T (p.Gln808Leu)
5g.132892291T>CCA360929105AFF4c.2510A>G (p.Gln837Arg)
c.1376A>G (p.Gln459Arg)
c.2423A>G (p.Gln808Arg)
 gnomAD v4
5g.132892291T>GCA360929106AFF4c.2510A>C (p.Gln837Pro)
c.1376A>C (p.Gln459Pro)
c.2423A>C (p.Gln808Pro)
 dbSNP gnomAD v3 gnomAD v4
5g.132892291T=CA1583372499AFF4c.2510A= (p.Gln837=)
c.1376A= (p.Gln459=)
c.2423A= (p.Gln808=)
5g.132892292G>ACA360929107AFF4c.2509C>T (p.Gln837Ter)
c.1375C>T (p.Gln459Ter)
c.2422C>T (p.Gln808Ter)
5g.132892292G>CCA360929108AFF4c.2509C>G (p.Gln837Glu)
c.1375C>G (p.Gln459Glu)
c.2422C>G (p.Gln808Glu)
5g.132892292G>TCA360929110AFF4c.2509C>A (p.Gln837Lys)
c.1375C>A (p.Gln459Lys)
c.2422C>A (p.Gln808Lys)
5g.132892293A>CCA360929112AFF4c.2508T>G (p.Ser836Arg)
c.1374T>G (p.Ser458Arg)
c.2421T>G (p.Ser807Arg)
5g.132892293A>GCA446498890AFF4c.2508T>C (p.Ser836=)
c.1374T>C (p.Ser458=)
c.2421T>C (p.Ser807=)
5g.132892293A>TCA360929113AFF4c.2508T>A (p.Ser836Arg)
c.1374T>A (p.Ser458Arg)
c.2421T>A (p.Ser807Arg)
5g.132892294C>ACA360929115AFF4c.2507G>T (p.Ser836Ile)
c.1373G>T (p.Ser458Ile)
c.2420G>T (p.Ser807Ile)
5g.132892294C=CA1583372500AFF4c.2507G= (p.Ser836=)
c.1373G= (p.Ser458=)
c.2420G= (p.Ser807=)
5g.132892294C>GCA360929120AFF4c.2507G>C (p.Ser836Thr)
c.1373G>C (p.Ser458Thr)
c.2420G>C (p.Ser807Thr)
5g.132892294C>TCA3408910AFF4c.2507G>A (p.Ser836Asn)
c.1373G>A (p.Ser458Asn)
c.2420G>A (p.Ser807Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892295T>ACA360929123AFF4c.2506A>T (p.Ser836Cys)
c.1372A>T (p.Ser458Cys)
c.2419A>T (p.Ser807Cys)
5g.132892295T>CCA360929126AFF4c.2506A>G (p.Ser836Gly)
c.1372A>G (p.Ser458Gly)
c.2419A>G (p.Ser807Gly)
5g.132892295T>GCA360929128AFF4c.2506A>C (p.Ser836Arg)
c.1372A>C (p.Ser458Arg)
c.2419A>C (p.Ser807Arg)
5g.132892296A=CA1583372501AFF4c.2505T= (p.Ile835=)
c.1371T= (p.Ile457=)
c.2418T= (p.Ile806=)
5g.132892296A>CCA360929129AFF4c.2505T>G (p.Ile835Met)
c.1371T>G (p.Ile457Met)
c.2418T>G (p.Ile806Met)
5g.132892296A>GCA446498891AFF4c.2505T>C (p.Ile835=)
c.1371T>C (p.Ile457=)
c.2418T>C (p.Ile806=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892296A>TCA446498892AFF4c.2505T>A (p.Ile835=)
c.1371T>A (p.Ile457=)
c.2418T>A (p.Ile806=)
5g.132892297A=CA1583372502AFF4c.2504T= (p.Ile835=)
c.1370T= (p.Ile457=)
c.2417T= (p.Ile806=)
5g.132892297A>CCA360929132AFF4c.2504T>G (p.Ile835Ser)
c.1370T>G (p.Ile457Ser)
c.2417T>G (p.Ile806Ser)
5g.132892297A>GCA3408911AFF4c.2504T>C (p.Ile835Thr)
c.1370T>C (p.Ile457Thr)
c.2417T>C (p.Ile806Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892297A>TCA360929135AFF4c.2504T>A (p.Ile835Asn)
c.1370T>A (p.Ile457Asn)
c.2417T>A (p.Ile806Asn)
5g.132892298T>ACA360929137AFF4c.2503A>T (p.Ile835Phe)
c.1369A>T (p.Ile457Phe)
c.2416A>T (p.Ile806Phe)
5g.132892298T>CCA360929138AFF4c.2503A>G (p.Ile835Val)
c.1369A>G (p.Ile457Val)
c.2416A>G (p.Ile806Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892298T>GCA360929140AFF4c.2503A>C (p.Ile835Leu)
c.1369A>C (p.Ile457Leu)
c.2416A>C (p.Ile806Leu)
5g.132892298T=CA1583372503AFF4c.2503A= (p.Ile835=)
c.1369A= (p.Ile457=)
c.2416A= (p.Ile806=)
5g.132892299A>CCA446498893AFF4c.2502T>G (p.Thr834=)
c.1368T>G (p.Thr456=)
c.2415T>G (p.Thr805=)
5g.132892299A>GCA446498894AFF4c.2502T>C (p.Thr834=)
c.1368T>C (p.Thr456=)
c.2415T>C (p.Thr805=)
5g.132892299A>TCA446498895AFF4c.2502T>A (p.Thr834=)
c.1368T>A (p.Thr456=)
c.2415T>A (p.Thr805=)
5g.132892300G>ACA360929141AFF4c.2501C>T (p.Thr834Ile)
c.1367C>T (p.Thr456Ile)
c.2414C>T (p.Thr805Ile)
5g.132892300G>CCA360929143AFF4c.2501C>G (p.Thr834Ser)
c.1367C>G (p.Thr456Ser)
c.2414C>G (p.Thr805Ser)
5g.132892300G>TCA360929142AFF4c.2501C>A (p.Thr834Asn)
c.1367C>A (p.Thr456Asn)
c.2414C>A (p.Thr805Asn)
5g.132892301T>ACA360929144AFF4c.2500A>T (p.Thr834Ser)
c.1366A>T (p.Thr456Ser)
c.2413A>T (p.Thr805Ser)
5g.132892301T>CCA360929147AFF4c.2500A>G (p.Thr834Ala)
c.1366A>G (p.Thr456Ala)
c.2413A>G (p.Thr805Ala)
5g.132892301T>GCA360929145AFF4c.2500A>C (p.Thr834Pro)
c.1366A>C (p.Thr456Pro)
c.2413A>C (p.Thr805Pro)
5g.132892302C>ACA360929149AFF4c.2499G>T (p.Arg833Ser)
c.1365G>T (p.Arg455Ser)
c.2412G>T (p.Arg804Ser)
 gnomAD v4
5g.132892302C=CA1583372504AFF4c.2499G= (p.Arg833=)
c.1365G= (p.Arg455=)
c.2412G= (p.Arg804=)
5g.132892302C>GCA360929151AFF4c.2499G>C (p.Arg833Ser)
c.1365G>C (p.Arg455Ser)
c.2412G>C (p.Arg804Ser)
5g.132892302C>TCA127270181AFF4c.2499G>A (p.Arg833=)
c.1365G>A (p.Arg455=)
c.2412G>A (p.Arg804=)
 dbSNP gnomAD v2
5g.132892303C>ACA360929152AFF4c.2498G>T (p.Arg833Met)
c.1364G>T (p.Arg455Met)
c.2411G>T (p.Arg804Met)
5g.132892303C=CA1583372505AFF4c.2498G= (p.Arg833=)
c.1364G= (p.Arg455=)
c.2411G= (p.Arg804=)
5g.132892303C>GCA360929154AFF4c.2498G>C (p.Arg833Thr)
c.1364G>C (p.Arg455Thr)
c.2411G>C (p.Arg804Thr)
5g.132892303C>TCA3408912AFF4c.2498G>A (p.Arg833Lys)
c.1364G>A (p.Arg455Lys)
c.2411G>A (p.Arg804Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892304T>ACA360929156AFF4c.2497A>T (p.Arg833Trp)
c.1363A>T (p.Arg455Trp)
c.2410A>T (p.Arg804Trp)
5g.132892304T>CCA360929157AFF4c.2497A>G (p.Arg833Gly)
c.1363A>G (p.Arg455Gly)
c.2410A>G (p.Arg804Gly)
5g.132892304T>GCA446498896AFF4c.2497A>C (p.Arg833=)
c.1363A>C (p.Arg455=)
c.2410A>C (p.Arg804=)
5g.132892305C>ACA360929158AFF4c.2496G>T (p.Lys832Asn)
c.1362G>T (p.Lys454Asn)
c.2409G>T (p.Lys803Asn)
5g.132892305C>GCA360929160AFF4c.2496G>C (p.Lys832Asn)
c.1362G>C (p.Lys454Asn)
c.2409G>C (p.Lys803Asn)
5g.132892305C>TCA446498897AFF4c.2496G>A (p.Lys832=)
c.1362G>A (p.Lys454=)
c.2409G>A (p.Lys803=)
5g.132892306T>ACA360929162AFF4c.2495A>T (p.Lys832Met)
c.1361A>T (p.Lys454Met)
c.2408A>T (p.Lys803Met)
5g.132892306T>CCA360929163AFF4c.2495A>G (p.Lys832Arg)
c.1361A>G (p.Lys454Arg)
c.2408A>G (p.Lys803Arg)
5g.132892306T>GCA360929164AFF4c.2495A>C (p.Lys832Thr)
c.1361A>C (p.Lys454Thr)
c.2408A>C (p.Lys803Thr)
5g.132892307T>ACA360929169AFF4c.2494A>T (p.Lys832Ter)
c.1360A>T (p.Lys454Ter)
c.2407A>T (p.Lys803Ter)
5g.132892307T>CCA360929167AFF4c.2494A>G (p.Lys832Glu)
c.1360A>G (p.Lys454Glu)
c.2407A>G (p.Lys803Glu)
5g.132892307T>GCA360929165AFF4c.2494A>C (p.Lys832Gln)
c.1360A>C (p.Lys454Gln)
c.2407A>C (p.Lys803Gln)
5g.132892308C>ACA446498898AFF4c.2493G>T (p.Arg831=)
c.1359G>T (p.Arg453=)
c.2406G>T (p.Arg802=)
5g.132892308C>GCA446498899AFF4c.2493G>C (p.Arg831=)
c.1359G>C (p.Arg453=)
c.2406G>C (p.Arg802=)
5g.132892308C>TCA446498900AFF4c.2493G>A (p.Arg831=)
c.1359G>A (p.Arg453=)
c.2406G>A (p.Arg802=)
5g.132892309C>ACA360929171AFF4c.2492G>T (p.Arg831Leu)
c.1358G>T (p.Arg453Leu)
c.2405G>T (p.Arg802Leu)
5g.132892309C=CA1583372506AFF4c.2492G= (p.Arg831=)
c.1358G= (p.Arg453=)
c.2405G= (p.Arg802=)
5g.132892309C>GCA360929172AFF4c.2492G>C (p.Arg831Pro)
c.1358G>C (p.Arg453Pro)
c.2405G>C (p.Arg802Pro)
5g.132892309C>TCA3408913AFF4c.2492G>A (p.Arg831Gln)
c.1358G>A (p.Arg453Gln)
c.2405G>A (p.Arg802Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.132892310G>ACA3408914AFF4c.2491C>T (p.Arg831Trp)
c.1357C>T (p.Arg453Trp)
c.2404C>T (p.Arg802Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892310G>CCA360929176AFF4c.2491C>G (p.Arg831Gly)
c.1357C>G (p.Arg453Gly)
c.2404C>G (p.Arg802Gly)
 COSMIC
5g.132892310G=CA1583372507AFF4c.2491C= (p.Arg831=)
c.1357C= (p.Arg453=)
c.2404C= (p.Arg802=)
5g.132892310G>TCA446498901AFF4c.2491C>A (p.Arg831=)
c.1357C>A (p.Arg453=)
c.2404C>A (p.Arg802=)
5g.132892311A>CCA446498902AFF4c.2490T>G (p.Ser830=)
c.1356T>G (p.Ser452=)
c.2403T>G (p.Ser801=)
5g.132892311A>GCA446498903AFF4c.2490T>C (p.Ser830=)
c.1356T>C (p.Ser452=)
c.2403T>C (p.Ser801=)
5g.132892311A>TCA446498904AFF4c.2490T>A (p.Ser830=)
c.1356T>A (p.Ser452=)
c.2403T>A (p.Ser801=)
5g.132892312G>ACA360929178AFF4c.2489C>T (p.Ser830Phe)
c.1355C>T (p.Ser452Phe)
c.2402C>T (p.Ser801Phe)
 gnomAD v4
5g.132892312G>CCA360929180AFF4c.2489C>G (p.Ser830Cys)
c.1355C>G (p.Ser452Cys)
c.2402C>G (p.Ser801Cys)
 gnomAD v4
5g.132892312G>TCA360929182AFF4c.2489C>A (p.Ser830Tyr)
c.1355C>A (p.Ser452Tyr)
c.2402C>A (p.Ser801Tyr)
5g.132892313A>CCA360929183AFF4c.2488T>G (p.Ser830Ala)
c.1354T>G (p.Ser452Ala)
c.2401T>G (p.Ser801Ala)
5g.132892313A>GCA360929184AFF4c.2488T>C (p.Ser830Pro)
c.1354T>C (p.Ser452Pro)
c.2401T>C (p.Ser801Pro)
5g.132892313A>TCA360929185AFF4c.2488T>A (p.Ser830Thr)
c.1354T>A (p.Ser452Thr)
c.2401T>A (p.Ser801Thr)
5g.132892314G>ACA446498905AFF4c.2487C>T (p.Gly829=)
c.1353C>T (p.Gly451=)
c.2400C>T (p.Gly800=)
 gnomAD v4
5g.132892314G>CCA446498906AFF4c.2487C>G (p.Gly829=)
c.1353C>G (p.Gly451=)
c.2400C>G (p.Gly800=)
5g.132892314G>TCA446498907AFF4c.2487C>A (p.Gly829=)
c.1353C>A (p.Gly451=)
c.2400C>A (p.Gly800=)
5g.132892315C>ACA360929188AFF4c.2486G>T (p.Gly829Val)
c.1352G>T (p.Gly451Val)
c.2399G>T (p.Gly800Val)
5g.132892315C=CA1583372508AFF4c.2486G= (p.Gly829=)
c.1352G= (p.Gly451=)
c.2399G= (p.Gly800=)
5g.132892315C>GCA127270212AFF4c.2486G>C (p.Gly829Ala)
c.1352G>C (p.Gly451Ala)
c.2399G>C (p.Gly800Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.132892315C>TCA360929186AFF4c.2486G>A (p.Gly829Asp)
c.1352G>A (p.Gly451Asp)
c.2399G>A (p.Gly800Asp)
5g.132892316C>ACA360929191AFF4c.2485G>T (p.Gly829Cys)
c.1351G>T (p.Gly451Cys)
c.2398G>T (p.Gly800Cys)
5g.132892316C=CA1583372509AFF4c.2485G= (p.Gly829=)
c.1351G= (p.Gly451=)
c.2398G= (p.Gly800=)
5g.132892316C>GCA360929193AFF4c.2485G>C (p.Gly829Arg)
c.1351G>C (p.Gly451Arg)
c.2398G>C (p.Gly800Arg)
 ClinVar dbSNP gnomAD v4
5g.132892316C>TCA3408915AFF4c.2485G>A (p.Gly829Ser)
c.1351G>A (p.Gly451Ser)
c.2398G>A (p.Gly800Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892317A>CCA360929196AFF4c.2484T>G (p.His828Gln)
c.1350T>G (p.His450Gln)
c.2397T>G (p.His799Gln)
5g.132892317A>GCA446498908AFF4c.2484T>C (p.His828=)
c.1350T>C (p.His450=)
c.2397T>C (p.His799=)
5g.132892317A>TCA360929198AFF4c.2484T>A (p.His828Gln)
c.1350T>A (p.His450Gln)
c.2397T>A (p.His799Gln)

Number of alleles fetched