Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.16154912C>ACA278625392ABCC6c.4002G>T (p.Gly1334=)
n.816G>T (p.Gly272=)
n.3627G>T (p.=)
n.865G>T
c.*1211G>T (p.=)
c.3969G>T (p.Gly1323=)
c.3660G>T (p.Gly1220=)
n.539-4869C>A
n.3664G>T
c.3834G>T (p.Gly1278=)
c.4038G>T (p.Gly1346=)
dbSNP gnomAD
16g.16154912C=CA2210140904ABCC6c.4002G= (p.Gly1334=)
n.816G= (p.Gly272=)
n.3627G= (p.=)
n.865G=
c.*1211G= (p.=)
c.3969G= (p.Gly1323=)
c.3660G= (p.Gly1220=)
n.539-4869C=
n.3664G=
c.3834G= (p.Gly1278=)
c.4038G= (p.Gly1346=)
16g.16154912C>GCA7925353ABCC6c.4002G>C (p.Gly1334=)
n.816G>C (p.Gly272=)
n.3627G>C (p.=)
n.865G>C
c.*1211G>C (p.=)
c.3969G>C (p.Gly1323=)
c.3660G>C (p.Gly1220=)
n.539-4869C>G
n.3664G>C
c.3834G>C (p.Gly1278=)
c.4038G>C (p.Gly1346=)
ClinVar dbSNP ExAC gnomAD
16g.16154912C>TCA493797205ABCC6c.4002G>A (p.Gly1334=)
n.816G>A (p.Gly272=)
n.3627G>A (p.=)
n.865G>A
c.*1211G>A (p.=)
c.3969G>A (p.Gly1323=)
c.3660G>A (p.Gly1220=)
n.539-4869C>T
n.3664G>A
c.3834G>A (p.Gly1278=)
c.4038G>A (p.Gly1346=)
16g.16154913C>ACA394875562ABCC6c.4001G>T (p.Gly1334Val)
n.815G>T (p.Gly272Val)
n.3626G>T (p.=)
n.864G>T
c.*1210G>T (p.=)
c.3968G>T (p.Gly1323Val)
c.3659G>T (p.Gly1220Val)
n.539-4868C>A
n.3663G>T
c.3833G>T (p.Gly1278Val)
c.4037G>T (p.Gly1346Val)
16g.16154913C>GCA394875564ABCC6c.4001G>C (p.Gly1334Ala)
n.815G>C (p.Gly272Ala)
n.3626G>C (p.=)
n.864G>C
c.*1210G>C (p.=)
c.3968G>C (p.Gly1323Ala)
c.3659G>C (p.Gly1220Ala)
n.539-4868C>G
n.3663G>C
c.3833G>C (p.Gly1278Ala)
c.4037G>C (p.Gly1346Ala)
16g.16154913C>TCA394875566ABCC6c.4001G>A (p.Gly1334Glu)
n.815G>A (p.Gly272Glu)
n.3626G>A (p.=)
n.864G>A
c.*1210G>A (p.=)
c.3968G>A (p.Gly1323Glu)
c.3659G>A (p.Gly1220Glu)
n.539-4868C>T
n.3663G>A
c.3833G>A (p.Gly1278Glu)
c.4037G>A (p.Gly1346Glu)
16g.16154914C>ACA394875570ABCC6c.4000G>T (p.Gly1334Trp)
n.814G>T (p.Gly272Trp)
n.3625G>T (p.=)
n.863G>T
c.*1209G>T (p.=)
c.3967G>T (p.Gly1323Trp)
c.3658G>T (p.Gly1220Trp)
n.539-4867C>A
n.3662G>T
c.3832G>T (p.Gly1278Trp)
c.4036G>T (p.Gly1346Trp)
16g.16154914C>GCA394875571ABCC6c.4000G>C (p.Gly1334Arg)
n.814G>C (p.Gly272Arg)
n.3625G>C (p.=)
n.863G>C
c.*1209G>C (p.=)
c.3967G>C (p.Gly1323Arg)
c.3658G>C (p.Gly1220Arg)
n.539-4867C>G
n.3662G>C
c.3832G>C (p.Gly1278Arg)
c.4036G>C (p.Gly1346Arg)
16g.16154914C>TCA394875572ABCC6c.4000G>A (p.Gly1334Arg)
n.814G>A (p.Gly272Arg)
n.3625G>A (p.=)
n.863G>A
c.*1209G>A (p.=)
c.3967G>A (p.Gly1323Arg)
c.3658G>A (p.Gly1220Arg)
n.539-4867C>T
n.3662G>A
c.3832G>A (p.Gly1278Arg)
c.4036G>A (p.Gly1346Arg)
16g.16154915C>ACA493797207ABCC6c.3999G>T (p.Val1333=)
n.813G>T (p.Val271=)
n.3624G>T (p.=)
n.862G>T
c.*1208G>T (p.=)
c.3966G>T (p.Val1322=)
c.3657G>T (p.Val1219=)
n.539-4866C>A
n.3661G>T
c.3831G>T (p.Val1277=)
c.4035G>T (p.Val1345=)
16g.16154915C=CA2210140911ABCC6c.3999G= (p.Val1333=)
n.813G= (p.Val271=)
n.3624G= (p.=)
n.862G=
c.*1208G= (p.=)
c.3966G= (p.Val1322=)
c.3657G= (p.Val1219=)
n.539-4866C=
n.3661G=
c.3831G= (p.Val1277=)
c.4035G= (p.Val1345=)
16g.16154915C>GCA493797208ABCC6c.3999G>C (p.Val1333=)
n.813G>C (p.Val271=)
n.3624G>C (p.=)
n.862G>C
c.*1208G>C (p.=)
c.3966G>C (p.Val1322=)
c.3657G>C (p.Val1219=)
n.539-4866C>G
n.3661G>C
c.3831G>C (p.Val1277=)
c.4035G>C (p.Val1345=)
16g.16154915C>TCA7925354ABCC6c.3999G>A (p.Val1333=)
n.813G>A (p.Val271=)
n.3624G>A (p.=)
n.862G>A
c.*1208G>A (p.=)
c.3966G>A (p.Val1322=)
c.3657G>A (p.Val1219=)
n.539-4866C>T
n.3661G>A
c.3831G>A (p.Val1277=)
c.4035G>A (p.Val1345=)
ClinVar dbSNP ExAC
16g.16154916A>CCA394875574ABCC6c.3998T>G (p.Val1333Gly)
n.812T>G (p.Val271Gly)
n.3623T>G (p.=)
n.861T>G
c.*1207T>G (p.=)
c.3965T>G (p.Val1322Gly)
c.3656T>G (p.Val1219Gly)
n.539-4865A>C
n.3660T>G
c.3830T>G (p.Val1277Gly)
c.4034T>G (p.Val1345Gly)
16g.16154916A>GCA394875576ABCC6c.3998T>C (p.Val1333Ala)
n.812T>C (p.Val271Ala)
n.3623T>C (p.=)
n.861T>C
c.*1207T>C (p.=)
c.3965T>C (p.Val1322Ala)
c.3656T>C (p.Val1219Ala)
n.539-4865A>G
n.3660T>C
c.3830T>C (p.Val1277Ala)
c.4034T>C (p.Val1345Ala)
16g.16154916A>TCA394875577ABCC6c.3998T>A (p.Val1333Glu)
n.812T>A (p.Val271Glu)
n.3623T>A (p.=)
n.861T>A
c.*1207T>A (p.=)
c.3965T>A (p.Val1322Glu)
c.3656T>A (p.Val1219Glu)
n.539-4865A>T
n.3660T>A
c.3830T>A (p.Val1277Glu)
c.4034T>A (p.Val1345Glu)
16g.16154917C>ACA394875580ABCC6c.3997G>T (p.Val1333Leu)
n.811G>T (p.Val271Leu)
n.3622G>T (p.=)
n.860G>T
c.*1206G>T (p.=)
c.3964G>T (p.Val1322Leu)
c.3655G>T (p.Val1219Leu)
n.539-4864C>A
n.3659G>T
c.3829G>T (p.Val1277Leu)
c.4033G>T (p.Val1345Leu)
16g.16154917C=CA2210140914ABCC6c.3997G= (p.Val1333=)
n.811G= (p.Val271=)
n.3622G= (p.=)
n.860G=
c.*1206G= (p.=)
c.3964G= (p.Val1322=)
c.3655G= (p.Val1219=)
n.539-4864C=
n.3659G=
c.3829G= (p.Val1277=)
c.4033G= (p.Val1345=)
16g.16154917C>GCA7925356ABCC6c.3997G>C (p.Val1333Leu)
n.811G>C (p.Val271Leu)
n.3622G>C (p.=)
n.860G>C
c.*1206G>C (p.=)
c.3964G>C (p.Val1322Leu)
c.3655G>C (p.Val1219Leu)
n.539-4864C>G
n.3659G>C
c.3829G>C (p.Val1277Leu)
c.4033G>C (p.Val1345Leu)
dbSNP ExAC gnomAD
16g.16154917C>TCA7925355ABCC6c.3997G>A (p.Val1333Met)
n.811G>A (p.Val271Met)
n.3622G>A (p.=)
n.860G>A
c.*1206G>A (p.=)
c.3964G>A (p.Val1322Met)
c.3655G>A (p.Val1219Met)
n.539-4864C>T
n.3659G>A
c.3829G>A (p.Val1277Met)
c.4033G>A (p.Val1345Met)
dbSNP ExAC gnomAD
16g.16154918G>ACA278625416ABCC6c.3996C>T (p.His1332=)
n.810C>T (p.His270=)
n.3621C>T (p.=)
n.859C>T
c.*1205C>T (p.=)
c.3963C>T (p.His1321=)
c.3654C>T (p.His1218=)
n.539-4863G>A
n.3658C>T
c.3828C>T (p.His1276=)
c.4032C>T (p.His1344=)
dbSNP gnomAD
16g.16154918G>CCA7925357ABCC6c.3996C>G (p.His1332Gln)
n.810C>G (p.His270Gln)
n.3621C>G (p.=)
n.859C>G
c.*1205C>G (p.=)
c.3963C>G (p.His1321Gln)
c.3654C>G (p.His1218Gln)
n.539-4863G>C
n.3658C>G
c.3828C>G (p.His1276Gln)
c.4032C>G (p.His1344Gln)
dbSNP ExAC gnomAD
16g.16154918G=CA2210140918ABCC6c.3996C= (p.His1332=)
n.810C= (p.His270=)
n.3621C= (p.=)
n.859C=
c.*1205C= (p.=)
c.3963C= (p.His1321=)
c.3654C= (p.His1218=)
n.539-4863G=
n.3658C=
c.3828C= (p.His1276=)
c.4032C= (p.His1344=)
16g.16154918G>TCA394875582ABCC6c.3996C>A (p.His1332Gln)
n.810C>A (p.His270Gln)
n.3621C>A (p.=)
n.859C>A
c.*1205C>A (p.=)
c.3963C>A (p.His1321Gln)
c.3654C>A (p.His1218Gln)
n.539-4863G>T
n.3658C>A
c.3828C>A (p.His1276Gln)
c.4032C>A (p.His1344Gln)
gnomAD
16g.16154919T>ACA394875583ABCC6c.3995A>T (p.His1332Leu)
n.809A>T (p.His270Leu)
n.3620A>T (p.=)
n.858A>T
c.*1204A>T (p.=)
c.3962A>T (p.His1321Leu)
c.3653A>T (p.His1218Leu)
n.539-4862T>A
n.3657A>T
c.3827A>T (p.His1276Leu)
c.4031A>T (p.His1344Leu)
16g.16154919T>CCA394875585ABCC6c.3995A>G (p.His1332Arg)
n.809A>G (p.His270Arg)
n.3620A>G (p.=)
n.858A>G
c.*1204A>G (p.=)
c.3962A>G (p.His1321Arg)
c.3653A>G (p.His1218Arg)
n.539-4862T>C
n.3657A>G
c.3827A>G (p.His1276Arg)
c.4031A>G (p.His1344Arg)
16g.16154919T>GCA394875584ABCC6c.3995A>C (p.His1332Pro)
n.809A>C (p.His270Pro)
n.3620A>C (p.=)
n.858A>C
c.*1204A>C (p.=)
c.3962A>C (p.His1321Pro)
c.3653A>C (p.His1218Pro)
n.539-4862T>G
n.3657A>C
c.3827A>C (p.His1276Pro)
c.4031A>C (p.His1344Pro)
16g.16154920G>ACA394875587ABCC6c.3994C>T (p.His1332Tyr)
n.808C>T (p.His270Tyr)
n.3619C>T (p.=)
n.857C>T
c.*1203C>T (p.=)
c.3961C>T (p.His1321Tyr)
c.3652C>T (p.His1218Tyr)
n.539-4861G>A
n.3656C>T
c.3826C>T (p.His1276Tyr)
c.4030C>T (p.His1344Tyr)
gnomAD
16g.16154920G>CCA394875588ABCC6c.3994C>G (p.His1332Asp)
n.808C>G (p.His270Asp)
n.3619C>G (p.=)
n.857C>G
c.*1203C>G (p.=)
c.3961C>G (p.His1321Asp)
c.3652C>G (p.His1218Asp)
n.539-4861G>C
n.3656C>G
c.3826C>G (p.His1276Asp)
c.4030C>G (p.His1344Asp)
16g.16154920G=CA2210140921ABCC6c.3994C= (p.His1332=)
n.808C= (p.His270=)
n.3619C= (p.=)
n.857C=
c.*1203C= (p.=)
c.3961C= (p.His1321=)
c.3652C= (p.His1218=)
n.539-4861G=
n.3656C=
c.3826C= (p.His1276=)
c.4030C= (p.His1344=)
16g.16154920G>TCA7925358ABCC6c.3994C>A (p.His1332Asn)
n.808C>A (p.His270Asn)
n.3619C>A (p.=)
n.857C>A
c.*1203C>A (p.=)
c.3961C>A (p.His1321Asn)
c.3652C>A (p.His1218Asn)
n.539-4861G>T
n.3656C>A
c.3826C>A (p.His1276Asn)
c.4030C>A (p.His1344Asn)
dbSNP ExAC gnomAD
16g.16154921G>ACA493797209ABCC6c.3993C>T (p.Ala1331=)
n.807C>T (p.Ala269=)
n.3618C>T (p.=)
n.856C>T
c.*1202C>T (p.=)
c.3960C>T (p.Ala1320=)
c.3651C>T (p.Ala1217=)
n.539-4860G>A
n.3655C>T
c.3825C>T (p.Ala1275=)
c.4029C>T (p.Ala1343=)
16g.16154921G>CCA493797210ABCC6c.3993C>G (p.Ala1331=)
n.807C>G (p.Ala269=)
n.3618C>G (p.=)
n.856C>G
c.*1202C>G (p.=)
c.3960C>G (p.Ala1320=)
c.3651C>G (p.Ala1217=)
n.539-4860G>C
n.3655C>G
c.3825C>G (p.Ala1275=)
c.4029C>G (p.Ala1343=)
16g.16154921G>TCA493797212ABCC6c.3993C>A (p.Ala1331=)
n.807C>A (p.Ala269=)
n.3618C>A (p.=)
n.856C>A
c.*1202C>A (p.=)
c.3960C>A (p.Ala1320=)
c.3651C>A (p.Ala1217=)
n.539-4860G>T
n.3655C>A
c.3825C>A (p.Ala1275=)
c.4029C>A (p.Ala1343=)
16g.16154922G>ACA7925359ABCC6c.3992C>T (p.Ala1331Val)
n.806C>T (p.Ala269Val)
n.3617C>T (p.=)
n.855C>T
c.*1201C>T (p.=)
c.3959C>T (p.Ala1320Val)
c.3650C>T (p.Ala1217Val)
n.539-4859G>A
n.3654C>T
c.3824C>T (p.Ala1275Val)
c.4028C>T (p.Ala1343Val)
dbSNP ExAC gnomAD
16g.16154922G>CCA394875590ABCC6c.3992C>G (p.Ala1331Gly)
n.806C>G (p.Ala269Gly)
n.3617C>G (p.=)
n.855C>G
c.*1201C>G (p.=)
c.3959C>G (p.Ala1320Gly)
c.3650C>G (p.Ala1217Gly)
n.539-4859G>C
n.3654C>G
c.3824C>G (p.Ala1275Gly)
c.4028C>G (p.Ala1343Gly)
16g.16154922G=CA2210140923ABCC6c.3992C= (p.Ala1331=)
n.806C= (p.Ala269=)
n.3617C= (p.=)
n.855C=
c.*1201C= (p.=)
c.3959C= (p.Ala1320=)
c.3650C= (p.Ala1217=)
n.539-4859G=
n.3654C=
c.3824C= (p.Ala1275=)
c.4028C= (p.Ala1343=)
16g.16154922G>TCA394875591ABCC6c.3992C>A (p.Ala1331Asp)
n.806C>A (p.Ala269Asp)
n.3617C>A (p.=)
n.855C>A
c.*1201C>A (p.=)
c.3959C>A (p.Ala1320Asp)
c.3650C>A (p.Ala1217Asp)
n.539-4859G>T
n.3654C>A
c.3824C>A (p.Ala1275Asp)
c.4028C>A (p.Ala1343Asp)
16g.16154923C>ACA394875592ABCC6c.3991G>T (p.Ala1331Ser)
n.805G>T (p.Ala269Ser)
n.3616G>T (p.=)
n.854G>T
c.*1200G>T (p.=)
c.3958G>T (p.Ala1320Ser)
c.3649G>T (p.Ala1217Ser)
n.539-4858C>A
n.3653G>T
c.3823G>T (p.Ala1275Ser)
c.4027G>T (p.Ala1343Ser)
16g.16154923C>GCA394875593ABCC6c.3991G>C (p.Ala1331Pro)
n.805G>C (p.Ala269Pro)
n.3616G>C (p.=)
n.854G>C
c.*1200G>C (p.=)
c.3958G>C (p.Ala1320Pro)
c.3649G>C (p.Ala1217Pro)
n.539-4858C>G
n.3653G>C
c.3823G>C (p.Ala1275Pro)
c.4027G>C (p.Ala1343Pro)
16g.16154923C>TCA394875594ABCC6c.3991G>A (p.Ala1331Thr)
n.805G>A (p.Ala269Thr)
n.3616G>A (p.=)
n.854G>A
c.*1200G>A (p.=)
c.3958G>A (p.Ala1320Thr)
c.3649G>A (p.Ala1217Thr)
n.539-4858C>T
n.3653G>A
c.3823G>A (p.Ala1275Thr)
c.4027G>A (p.Ala1343Thr)
16g.16154924A=CA2210140925ABCC6c.3990T= (p.Ile1330=)
n.804T= (p.Ile268=)
n.3615T= (p.=)
n.853T=
c.*1199T= (p.=)
c.3957T= (p.Ile1319=)
c.3648T= (p.Ile1216=)
n.539-4857A=
n.3652T=
c.3822T= (p.Ile1274=)
c.4026T= (p.Ile1342=)
16g.16154924A>CCA394875595ABCC6c.3990T>G (p.Ile1330Met)
n.804T>G (p.Ile268Met)
n.3615T>G (p.=)
n.853T>G
c.*1199T>G (p.=)
c.3957T>G (p.Ile1319Met)
c.3648T>G (p.Ile1216Met)
n.539-4857A>C
n.3652T>G
c.3822T>G (p.Ile1274Met)
c.4026T>G (p.Ile1342Met)
16g.16154924A>GCA493797216ABCC6c.3990T>C (p.Ile1330=)
n.804T>C (p.Ile268=)
n.3615T>C (p.=)
n.853T>C
c.*1199T>C (p.=)
c.3957T>C (p.Ile1319=)
c.3648T>C (p.Ile1216=)
n.539-4857A>G
n.3652T>C
c.3822T>C (p.Ile1274=)
c.4026T>C (p.Ile1342=)
gnomAD COSMIC
16g.16154924A>TCA493797217ABCC6c.3990T>A (p.Ile1330=)
n.804T>A (p.Ile268=)
n.3615T>A (p.=)
n.853T>A
c.*1199T>A (p.=)
c.3957T>A (p.Ile1319=)
c.3648T>A (p.Ile1216=)
n.539-4857A>T
n.3652T>A
c.3822T>A (p.Ile1274=)
c.4026T>A (p.Ile1342=)
16g.16154925A=CA2210140927ABCC6c.3989T= (p.Ile1330=)
n.803T= (p.Ile268=)
n.3614T= (p.=)
n.852T=
c.*1198T= (p.=)
c.3956T= (p.Ile1319=)
c.3647T= (p.Ile1216=)
n.539-4856A=
n.3651T=
c.3821T= (p.Ile1274=)
c.4025T= (p.Ile1342=)
16g.16154925A>CCA394875596ABCC6c.3989T>G (p.Ile1330Ser)
n.803T>G (p.Ile268Ser)
n.3614T>G (p.=)
n.852T>G
c.*1198T>G (p.=)
c.3956T>G (p.Ile1319Ser)
c.3647T>G (p.Ile1216Ser)
n.539-4856A>C
n.3651T>G
c.3821T>G (p.Ile1274Ser)
c.4025T>G (p.Ile1342Ser)
16g.16154925A>GCA7925360ABCC6c.3989T>C (p.Ile1330Thr)
n.803T>C (p.Ile268Thr)
n.3614T>C (p.=)
n.852T>C
c.*1198T>C (p.=)
c.3956T>C (p.Ile1319Thr)
c.3647T>C (p.Ile1216Thr)
n.539-4856A>G
n.3651T>C
c.3821T>C (p.Ile1274Thr)
c.4025T>C (p.Ile1342Thr)
dbSNP ExAC gnomAD
16g.16154925A>TCA394875597ABCC6c.3989T>A (p.Ile1330Asn)
n.803T>A (p.Ile268Asn)
n.3614T>A (p.=)
n.852T>A
c.*1198T>A (p.=)
c.3956T>A (p.Ile1319Asn)
c.3647T>A (p.Ile1216Asn)
n.539-4856A>T
n.3651T>A
c.3821T>A (p.Ile1274Asn)
c.4025T>A (p.Ile1342Asn)

Number of alleles fetched