Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48755998_48755999delinsCACA2175628397CEP152c.3249_3250delinsTG (p.Ser1083=)
c.2970_2971delinsTG (p.Ser990=)
c.1290_1291delinsTG (p.Ser430=)
c.1284_1285delinsTG (p.Ser428=)
n.4214_4215delinsTG
n.4200_4201delinsTG
15g.48755999delCA7548400CEP152c.3249del (p.Val1084CysfsTer7)
c.2970del (p.Val991CysfsTer7)
c.1290del (p.Val431CysfsTer7)
c.1284del (p.Val429CysfsTer7)
n.4214del
n.4200del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48755999A>CCA490311138CEP152c.3249T>G (p.Ser1083=)
c.2970T>G (p.Ser990=)
c.1290T>G (p.Ser430=)
c.1284T>G (p.Ser428=)
n.4214T>G
n.4200T>G
 gnomAD v4
15g.48755999A>GCA490311137CEP152c.3249T>C (p.Ser1083=)
c.2970T>C (p.Ser990=)
c.1290T>C (p.Ser430=)
c.1284T>C (p.Ser428=)
n.4214T>C
n.4200T>C
15g.48755999A>TCA490311136CEP152c.3249T>A (p.Ser1083=)
c.2970T>A (p.Ser990=)
c.1290T>A (p.Ser430=)
c.1284T>A (p.Ser428=)
n.4214T>A
n.4200T>A
15g.48756000delCA392341736CEP152c.3248del (p.Ser1083LeufsTer8)
c.2969del (p.Ser990LeufsTer8)
c.1289del (p.Ser430LeufsTer8)
c.1283del (p.Ser428LeufsTer8)
n.4213del
n.4199del
15g.48756000G>ACA392341743CEP152c.3248C>T (p.Ser1083Phe)
c.2969C>T (p.Ser990Phe)
c.1289C>T (p.Ser430Phe)
c.1283C>T (p.Ser428Phe)
n.4213C>T
n.4199C>T
15g.48756000G>CCA392341742CEP152c.3248C>G (p.Ser1083Cys)
c.2969C>G (p.Ser990Cys)
c.1289C>G (p.Ser430Cys)
c.1283C>G (p.Ser428Cys)
n.4213C>G
n.4199C>G
15g.48756000G>TCA392341738CEP152c.3248C>A (p.Ser1083Tyr)
c.2969C>A (p.Ser990Tyr)
c.1289C>A (p.Ser430Tyr)
c.1283C>A (p.Ser428Tyr)
n.4213C>A
n.4199C>A
15g.48756001A>CCA392341744CEP152c.3247T>G (p.Ser1083Ala)
c.2968T>G (p.Ser990Ala)
c.1288T>G (p.Ser430Ala)
c.1282T>G (p.Ser428Ala)
n.4212T>G
n.4198T>G
15g.48756001A>GCA392341745CEP152c.3247T>C (p.Ser1083Pro)
c.2968T>C (p.Ser990Pro)
c.1288T>C (p.Ser430Pro)
c.1282T>C (p.Ser428Pro)
n.4212T>C
n.4198T>C
15g.48756001A>TCA392341747CEP152c.3247T>A (p.Ser1083Thr)
c.2968T>A (p.Ser990Thr)
c.1288T>A (p.Ser430Thr)
c.1282T>A (p.Ser428Thr)
n.4212T>A
n.4198T>A
15g.48756001_48756003delCA2628343313CEP152c.3245_3247del (p.Met1082_Ser1083delinsThr)
c.2966_2968del (p.Met989_Ser990delinsThr)
c.1286_1288del (p.Met429_Ser430delinsThr)
c.1280_1282del (p.Met427_Ser428delinsThr)
n.4210_4212del
n.4196_4198del
 gnomAD v4
15g.48756002C>ACA392341748CEP152c.3246G>T (p.Met1082Ile)
c.2967G>T (p.Met989Ile)
c.1287G>T (p.Met429Ile)
c.1281G>T (p.Met427Ile)
n.4211G>T
n.4197G>T
15g.48756002C>GCA392341749CEP152c.3246G>C (p.Met1082Ile)
c.2967G>C (p.Met989Ile)
c.1287G>C (p.Met429Ile)
c.1281G>C (p.Met427Ile)
n.4211G>C
n.4197G>C
15g.48756002C>TCA392341751CEP152c.3246G>A (p.Met1082Ile)
c.2967G>A (p.Met989Ile)
c.1287G>A (p.Met429Ile)
c.1281G>A (p.Met427Ile)
n.4211G>A
n.4197G>A
15g.48756003A>CCA392341753CEP152c.3245T>G (p.Met1082Arg)
c.2966T>G (p.Met989Arg)
c.1286T>G (p.Met429Arg)
c.1280T>G (p.Met427Arg)
n.4210T>G
n.4196T>G
15g.48756003A>GCA392341754CEP152c.3245T>C (p.Met1082Thr)
c.2966T>C (p.Met989Thr)
c.1286T>C (p.Met429Thr)
c.1280T>C (p.Met427Thr)
n.4210T>C
n.4196T>C
15g.48756003A>TCA392341756CEP152c.3245T>A (p.Met1082Lys)
c.2966T>A (p.Met989Lys)
c.1286T>A (p.Met429Lys)
c.1280T>A (p.Met427Lys)
n.4210T>A
n.4196T>A
15g.48756004T>ACA392341758CEP152c.3244A>T (p.Met1082Leu)
c.2965A>T (p.Met989Leu)
c.1285A>T (p.Met429Leu)
c.1279A>T (p.Met427Leu)
n.4209A>T
n.4195A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756004T>CCA392341760CEP152c.3244A>G (p.Met1082Val)
c.2965A>G (p.Met989Val)
c.1285A>G (p.Met429Val)
c.1279A>G (p.Met427Val)
n.4209A>G
n.4195A>G
15g.48756004T>GCA392341761CEP152c.3244A>C (p.Met1082Leu)
c.2965A>C (p.Met989Leu)
c.1285A>C (p.Met429Leu)
c.1279A>C (p.Met427Leu)
n.4209A>C
n.4195A>C
15g.48756004T=CA2175628405CEP152c.3244A= (p.Met1082=)
c.2965A= (p.Met989=)
c.1285A= (p.Met429=)
c.1279A= (p.Met427=)
n.4209A=
n.4195A=
15g.48756005C>ACA392341765CEP152c.3243G>T (p.Trp1081Cys)
c.2964G>T (p.Trp988Cys)
c.1284G>T (p.Trp428Cys)
c.1278G>T (p.Trp426Cys)
n.4208G>T
n.4194G>T
 gnomAD v4
15g.48756005C>GCA392341766CEP152c.3243G>C (p.Trp1081Cys)
c.2964G>C (p.Trp988Cys)
c.1284G>C (p.Trp428Cys)
c.1278G>C (p.Trp426Cys)
n.4208G>C
n.4194G>C
15g.48756005C>TCA392341763CEP152c.3243G>A (p.Trp1081Ter)
c.2964G>A (p.Trp988Ter)
c.1284G>A (p.Trp428Ter)
c.1278G>A (p.Trp426Ter)
n.4208G>A
n.4194G>A
15g.48756006C>ACA392341771CEP152c.3242G>T (p.Trp1081Leu)
c.2963G>T (p.Trp988Leu)
c.1283G>T (p.Trp428Leu)
c.1277G>T (p.Trp426Leu)
n.4207G>T
n.4193G>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756006C=CA2175628408CEP152c.3242G= (p.Trp1081=)
c.2963G= (p.Trp988=)
c.1283G= (p.Trp428=)
c.1277G= (p.Trp426=)
n.4207G=
n.4193G=
15g.48756006C>GCA392341769CEP152c.3242G>C (p.Trp1081Ser)
c.2963G>C (p.Trp988Ser)
c.1283G>C (p.Trp428Ser)
c.1277G>C (p.Trp426Ser)
n.4207G>C
n.4193G>C
15g.48756006C>TCA392341770CEP152c.3242G>A (p.Trp1081Ter)
c.2963G>A (p.Trp988Ter)
c.1283G>A (p.Trp428Ter)
c.1277G>A (p.Trp426Ter)
n.4207G>A
n.4193G>A
15g.48756007A>CCA392341772CEP152c.3241T>G (p.Trp1081Gly)
c.2962T>G (p.Trp988Gly)
c.1282T>G (p.Trp428Gly)
c.1276T>G (p.Trp426Gly)
n.4206T>G
n.4192T>G
15g.48756007A>GCA392341774CEP152c.3241T>C (p.Trp1081Arg)
c.2962T>C (p.Trp988Arg)
c.1282T>C (p.Trp428Arg)
c.1276T>C (p.Trp426Arg)
n.4206T>C
n.4192T>C
15g.48756007A>TCA392341775CEP152c.3241T>A (p.Trp1081Arg)
c.2962T>A (p.Trp988Arg)
c.1282T>A (p.Trp428Arg)
c.1276T>A (p.Trp426Arg)
n.4206T>A
n.4192T>A
15g.48756008T>ACA392341776CEP152c.3240A>T (p.Lys1080Asn)
c.2961A>T (p.Lys987Asn)
c.1281A>T (p.Lys427Asn)
c.1275A>T (p.Lys425Asn)
n.4205A>T
n.4191A>T
15g.48756008T>CCA490311139CEP152c.3240A>G (p.Lys1080=)
c.2961A>G (p.Lys987=)
c.1281A>G (p.Lys427=)
c.1275A>G (p.Lys425=)
n.4205A>G
n.4191A>G
15g.48756008T>GCA392341777CEP152c.3240A>C (p.Lys1080Asn)
c.2961A>C (p.Lys987Asn)
c.1281A>C (p.Lys427Asn)
c.1275A>C (p.Lys425Asn)
n.4205A>C
n.4191A>C
15g.48756009T>ACA392341778CEP152c.3239A>T (p.Lys1080Ile)
c.2960A>T (p.Lys987Ile)
c.1280A>T (p.Lys427Ile)
c.1274A>T (p.Lys425Ile)
n.4204A>T
n.4190A>T
15g.48756009T>CCA7548401CEP152c.3239A>G (p.Lys1080Arg)
c.2960A>G (p.Lys987Arg)
c.1280A>G (p.Lys427Arg)
c.1274A>G (p.Lys425Arg)
n.4204A>G
n.4190A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756009T>GCA392341780CEP152c.3239A>C (p.Lys1080Thr)
c.2960A>C (p.Lys987Thr)
c.1280A>C (p.Lys427Thr)
c.1274A>C (p.Lys425Thr)
n.4204A>C
n.4190A>C
15g.48756009T=CA2175628411CEP152c.3239A= (p.Lys1080=)
c.2960A= (p.Lys987=)
c.1280A= (p.Lys427=)
c.1274A= (p.Lys425=)
n.4204A=
n.4190A=
15g.48756010T>ACA392341782CEP152c.3238A>T (p.Lys1080Ter)
c.2959A>T (p.Lys987Ter)
c.1279A>T (p.Lys427Ter)
c.1273A>T (p.Lys425Ter)
n.4203A>T
n.4189A>T
15g.48756010T>CCA7548402CEP152c.3238A>G (p.Lys1080Glu)
c.2959A>G (p.Lys987Glu)
c.1279A>G (p.Lys427Glu)
c.1273A>G (p.Lys425Glu)
n.4203A>G
n.4189A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756010T>GCA392341784CEP152c.3238A>C (p.Lys1080Gln)
c.2959A>C (p.Lys987Gln)
c.1279A>C (p.Lys427Gln)
c.1273A>C (p.Lys425Gln)
n.4203A>C
n.4189A>C
15g.48756010T=CA2175628415CEP152c.3238A= (p.Lys1080=)
c.2959A= (p.Lys987=)
c.1279A= (p.Lys427=)
c.1273A= (p.Lys425=)
n.4203A=
n.4189A=
15g.48756011T>ACA490311140CEP152c.3237A>T (p.Ser1079=)
c.2958A>T (p.Ser986=)
c.1278A>T (p.Ser426=)
c.1272A>T (p.Ser424=)
n.4202A>T
n.4188A>T
15g.48756011T>CCA490311142CEP152c.3237A>G (p.Ser1079=)
c.2958A>G (p.Ser986=)
c.1278A>G (p.Ser426=)
c.1272A>G (p.Ser424=)
n.4202A>G
n.4188A>G
15g.48756011T>GCA490311141CEP152c.3237A>C (p.Ser1079=)
c.2958A>C (p.Ser986=)
c.1278A>C (p.Ser426=)
c.1272A>C (p.Ser424=)
n.4202A>C
n.4188A>C
15g.48756012G>ACA392341793CEP152c.3236C>T (p.Ser1079Leu)
c.2957C>T (p.Ser986Leu)
c.1277C>T (p.Ser426Leu)
c.1271C>T (p.Ser424Leu)
n.4201C>T
n.4187C>T
15g.48756012G>CCA392341789CEP152c.3236C>G (p.Ser1079Ter)
c.2957C>G (p.Ser986Ter)
c.1277C>G (p.Ser426Ter)
c.1271C>G (p.Ser424Ter)
n.4201C>G
n.4187C>G
15g.48756012G>TCA392341790CEP152c.3236C>A (p.Ser1079Ter)
c.2957C>A (p.Ser986Ter)
c.1277C>A (p.Ser426Ter)
c.1271C>A (p.Ser424Ter)
n.4201C>A
n.4187C>A

Number of alleles fetched