Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490332_67490333delinsCTCA1980172411AIPc.639_640delinsCT
c.473_474delinsCT (p.Pro158=)
n.1174_1175delinsCT
c.469-665_469-664delinsCT (n.469-665_469-664delinsCT)
c.293_294delinsCT (p.Pro98=)
c.662_663delinsCT (p.Pro221=)
c.485_486delinsCT (p.Pro162=)
c.482_483delinsCT (p.Pro161=)
c.314_315delinsCT (p.Pro105=)
11g.67490333delCA1139662046AIPc.640del
c.474del (p.Glu159AsnfsTer?)
n.1175del
c.469-664del (n.469-664del)
c.294del (p.Glu99AsnfsTer?)
c.663del (p.Glu222AsnfsTer?)
c.486del (p.Glu163AsnfsTer?)
c.483del (p.Glu162AsnfsTer?)
c.315del (p.Glu106AsnfsTer?)
ClinVar dbSNP
11g.67490333T>ACA475509191AIPc.640T>A
c.474T>A (p.Pro158=)
n.1175T>A
c.469-664T>A (n.469-664T>A)
c.294T>A (p.Pro98=)
c.663T>A (p.Pro221=)
c.486T>A (p.Pro162=)
c.483T>A (p.Pro161=)
c.315T>A (p.Pro105=)
11g.67490333T>CCA475509192AIPc.640T>C
c.474T>C (p.Pro158=)
n.1175T>C
c.469-664T>C (n.469-664T>C)
c.294T>C (p.Pro98=)
c.663T>C (p.Pro221=)
c.486T>C (p.Pro162=)
c.483T>C (p.Pro161=)
c.315T>C (p.Pro105=)
gnomAD v4
11g.67490333T>GCA475509193AIPc.640T>G
c.474T>G (p.Pro158=)
n.1175T>G
c.469-664T>G (n.469-664T>G)
c.294T>G (p.Pro98=)
c.663T>G (p.Pro221=)
c.486T>G (p.Pro162=)
c.483T>G (p.Pro161=)
c.315T>G (p.Pro105=)
11g.67490334G>ACA381551503AIPc.641G>A
c.475G>A (p.Glu159Lys)
n.1176G>A
c.469-663G>A (n.469-663G>A)
c.295G>A (p.Glu99Lys)
c.664G>A (p.Glu222Lys)
c.487G>A (p.Glu163Lys)
c.484G>A (p.Glu162Lys)
c.316G>A (p.Glu106Lys)
dbSNP gnomAD v2 gnomAD v4
11g.67490334G>CCA381551504AIPc.641G>C
c.475G>C (p.Glu159Gln)
n.1176G>C
c.469-663G>C (n.469-663G>C)
c.295G>C (p.Glu99Gln)
c.664G>C (p.Glu222Gln)
c.487G>C (p.Glu163Gln)
c.484G>C (p.Glu162Gln)
c.316G>C (p.Glu106Gln)
11g.67490334G=CA1980172412AIPc.641G=
c.475G= (p.Glu159=)
n.1176G=
c.469-663G= (n.469-663G=)
c.295G= (p.Glu99=)
c.664G= (p.Glu222=)
c.487G= (p.Glu163=)
c.484G= (p.Glu162=)
c.316G= (p.Glu106=)
11g.67490334G>TCA381551505AIPc.641G>T
c.475G>T (p.Glu159Ter)
n.1176G>T
c.469-663G>T (n.469-663G>T)
c.295G>T (p.Glu99Ter)
c.664G>T (p.Glu222Ter)
c.487G>T (p.Glu163Ter)
c.484G>T (p.Glu162Ter)
c.316G>T (p.Glu106Ter)
11g.67490335A>CCA381551508AIPc.642A>C
c.476A>C (p.Glu159Ala)
n.1177A>C
c.469-662A>C (n.469-662A>C)
c.296A>C (p.Glu99Ala)
c.665A>C (p.Glu222Ala)
c.488A>C (p.Glu163Ala)
c.485A>C (p.Glu162Ala)
c.317A>C (p.Glu106Ala)
11g.67490335A>GCA381551506AIPc.642A>G
c.476A>G (p.Glu159Gly)
n.1177A>G
c.469-662A>G (n.469-662A>G)
c.296A>G (p.Glu99Gly)
c.665A>G (p.Glu222Gly)
c.488A>G (p.Glu163Gly)
c.485A>G (p.Glu162Gly)
c.317A>G (p.Glu106Gly)
11g.67490335A>TCA381551507AIPc.642A>T
c.476A>T (p.Glu159Val)
n.1177A>T
c.469-662A>T (n.469-662A>T)
c.296A>T (p.Glu99Val)
c.665A>T (p.Glu222Val)
c.488A>T (p.Glu163Val)
c.485A>T (p.Glu162Val)
c.317A>T (p.Glu106Val)
11g.67490336A>CCA381551509AIPc.643A>C
c.477A>C (p.Glu159Asp)
n.1178A>C
c.469-661A>C (n.469-661A>C)
c.297A>C (p.Glu99Asp)
c.666A>C (p.Glu222Asp)
c.489A>C (p.Glu163Asp)
c.486A>C (p.Glu162Asp)
c.318A>C (p.Glu106Asp)
11g.67490336A>GCA475509195AIPc.643A>G
c.477A>G (p.Glu159=)
n.1178A>G
c.469-661A>G (n.469-661A>G)
c.297A>G (p.Glu99=)
c.666A>G (p.Glu222=)
c.489A>G (p.Glu163=)
c.486A>G (p.Glu162=)
c.318A>G (p.Glu106=)
ClinVar dbSNP
11g.67490336A>TCA381551510AIPc.643A>T
c.477A>T (p.Glu159Asp)
n.1178A>T
c.469-661A>T (n.469-661A>T)
c.297A>T (p.Glu99Asp)
c.666A>T (p.Glu222Asp)
c.489A>T (p.Glu163Asp)
c.486A>T (p.Glu162Asp)
c.318A>T (p.Glu106Asp)
gnomAD v4
11g.67490337T>ACA381551511AIPc.644T>A
c.478T>A (p.Trp160Arg)
n.1179T>A
c.469-660T>A (n.469-660T>A)
c.298T>A (p.Trp100Arg)
c.667T>A (p.Trp223Arg)
c.490T>A (p.Trp164Arg)
c.487T>A (p.Trp163Arg)
c.319T>A (p.Trp107Arg)
11g.67490337T>CCA381551512AIPc.644T>C
c.478T>C (p.Trp160Arg)
n.1179T>C
c.469-660T>C (n.469-660T>C)
c.298T>C (p.Trp100Arg)
c.667T>C (p.Trp223Arg)
c.490T>C (p.Trp164Arg)
c.487T>C (p.Trp163Arg)
c.319T>C (p.Trp107Arg)
11g.67490337T>GCA381551513AIPc.644T>G
c.478T>G (p.Trp160Gly)
n.1179T>G
c.469-660T>G (n.469-660T>G)
c.298T>G (p.Trp100Gly)
c.667T>G (p.Trp223Gly)
c.490T>G (p.Trp164Gly)
c.487T>G (p.Trp163Gly)
c.319T>G (p.Trp107Gly)
11g.67490338G>ACA381551514AIPc.645G>A
c.479G>A (p.Trp160Ter)
n.1180G>A
c.469-659G>A (n.469-659G>A)
c.299G>A (p.Trp100Ter)
c.668G>A (p.Trp223Ter)
c.491G>A (p.Trp164Ter)
c.488G>A (p.Trp163Ter)
c.320G>A (p.Trp107Ter)
11g.67490338G>CCA381551516AIPc.645G>C
c.479G>C (p.Trp160Ser)
n.1180G>C
c.469-659G>C (n.469-659G>C)
c.299G>C (p.Trp100Ser)
c.668G>C (p.Trp223Ser)
c.491G>C (p.Trp164Ser)
c.488G>C (p.Trp163Ser)
c.320G>C (p.Trp107Ser)
ClinVar dbSNP
11g.67490338G>TCA381551515AIPc.645G>T
c.479G>T (p.Trp160Leu)
n.1180G>T
c.469-659G>T (n.469-659G>T)
c.299G>T (p.Trp100Leu)
c.668G>T (p.Trp223Leu)
c.491G>T (p.Trp164Leu)
c.488G>T (p.Trp163Leu)
c.320G>T (p.Trp107Leu)
11g.67490339G>ACA381551517AIPc.646G>A
c.480G>A (p.Trp160Ter)
n.1181G>A
c.469-658G>A (n.469-658G>A)
c.300G>A (p.Trp100Ter)
c.669G>A (p.Trp223Ter)
c.492G>A (p.Trp164Ter)
c.489G>A (p.Trp163Ter)
c.321G>A (p.Trp107Ter)
11g.67490339G>CCA381551518AIPc.646G>C
c.480G>C (p.Trp160Cys)
n.1181G>C
c.469-658G>C (n.469-658G>C)
c.300G>C (p.Trp100Cys)
c.669G>C (p.Trp223Cys)
c.492G>C (p.Trp164Cys)
c.489G>C (p.Trp163Cys)
c.321G>C (p.Trp107Cys)
11g.67490339G>TCA381551519AIPc.646G>T
c.480G>T (p.Trp160Cys)
n.1181G>T
c.469-658G>T (n.469-658G>T)
c.300G>T (p.Trp100Cys)
c.669G>T (p.Trp223Cys)
c.492G>T (p.Trp164Cys)
c.489G>T (p.Trp163Cys)
c.321G>T (p.Trp107Cys)
gnomAD v4
11g.67490340A>CCA381551520AIPc.647A>C
c.481A>C (p.Ile161Leu)
n.1182A>C
c.469-657A>C (n.469-657A>C)
c.301A>C (p.Ile101Leu)
c.670A>C (p.Ile224Leu)
c.493A>C (p.Ile165Leu)
c.490A>C (p.Ile164Leu)
c.322A>C (p.Ile108Leu)
11g.67490340A>GCA381551522AIPc.647A>G
c.481A>G (p.Ile161Val)
n.1182A>G
c.469-657A>G (n.469-657A>G)
c.301A>G (p.Ile101Val)
c.670A>G (p.Ile224Val)
c.493A>G (p.Ile165Val)
c.490A>G (p.Ile164Val)
c.322A>G (p.Ile108Val)
ClinVar
11g.67490340A>TCA381551523AIPc.647A>T
c.481A>T (p.Ile161Phe)
n.1182A>T
c.469-657A>T (n.469-657A>T)
c.301A>T (p.Ile101Phe)
c.670A>T (p.Ile224Phe)
c.493A>T (p.Ile165Phe)
c.490A>T (p.Ile164Phe)
c.322A>T (p.Ile108Phe)
COSMIC
11g.67490341T>ACA381551525AIPc.648T>A
c.482T>A (p.Ile161Asn)
n.1183T>A
c.469-656T>A (n.469-656T>A)
c.302T>A (p.Ile101Asn)
c.671T>A (p.Ile224Asn)
c.494T>A (p.Ile165Asn)
c.491T>A (p.Ile164Asn)
c.323T>A (p.Ile108Asn)
11g.67490341T>CCA381551527AIPc.648T>C
c.482T>C (p.Ile161Thr)
n.1183T>C
c.469-656T>C (n.469-656T>C)
c.302T>C (p.Ile101Thr)
c.671T>C (p.Ile224Thr)
c.494T>C (p.Ile165Thr)
c.491T>C (p.Ile164Thr)
c.323T>C (p.Ile108Thr)
11g.67490341T>GCA381551529AIPc.648T>G
c.482T>G (p.Ile161Ser)
n.1183T>G
c.469-656T>G (n.469-656T>G)
c.302T>G (p.Ile101Ser)
c.671T>G (p.Ile224Ser)
c.494T>G (p.Ile165Ser)
c.491T>G (p.Ile164Ser)
c.323T>G (p.Ile108Ser)
11g.67490342C>ACA475509200AIPc.649C>A
c.483C>A (p.Ile161=)
n.1184C>A
c.469-655C>A (n.469-655C>A)
c.303C>A (p.Ile101=)
c.672C>A (p.Ile224=)
c.495C>A (p.Ile165=)
c.492C>A (p.Ile164=)
c.324C>A (p.Ile108=)
ClinVar
11g.67490342C=CA1980172413AIPc.649C=
c.483C= (p.Ile161=)
n.1184C=
c.469-655C= (n.469-655C=)
c.303C= (p.Ile101=)
c.672C= (p.Ile224=)
c.495C= (p.Ile165=)
c.492C= (p.Ile164=)
c.324C= (p.Ile108=)
11g.67490342C>GCA381551531AIPc.649C>G
c.483C>G (p.Ile161Met)
n.1184C>G
c.469-655C>G (n.469-655C>G)
c.303C>G (p.Ile101Met)
c.672C>G (p.Ile224Met)
c.495C>G (p.Ile165Met)
c.492C>G (p.Ile164Met)
c.324C>G (p.Ile108Met)
ClinVar
11g.67490342C>TCA475509201AIPc.649C>T
c.483C>T (p.Ile161=)
n.1184C>T
c.469-655C>T (n.469-655C>T)
c.303C>T (p.Ile101=)
c.672C>T (p.Ile224=)
c.495C>T (p.Ile165=)
c.492C>T (p.Ile164=)
c.324C>T (p.Ile108=)
ClinVar dbSNP gnomAD v2
11g.67490343C>ACA381551543AIPc.650C>A
c.484C>A (p.Gln162Lys)
n.1185C>A
c.469-654C>A (n.469-654C>A)
c.304C>A (p.Gln102Lys)
c.673C>A (p.Gln225Lys)
c.496C>A (p.Gln166Lys)
c.493C>A (p.Gln165Lys)
c.325C>A (p.Gln109Lys)
11g.67490343C>GCA381551542AIPc.650C>G
c.484C>G (p.Gln162Glu)
n.1185C>G
c.469-654C>G (n.469-654C>G)
c.304C>G (p.Gln102Glu)
c.673C>G (p.Gln225Glu)
c.496C>G (p.Gln166Glu)
c.493C>G (p.Gln165Glu)
c.325C>G (p.Gln109Glu)
11g.67490343C>TCA381551540AIPc.650C>T
c.484C>T (p.Gln162Ter)
n.1185C>T
c.469-654C>T (n.469-654C>T)
c.304C>T (p.Gln102Ter)
c.673C>T (p.Gln225Ter)
c.496C>T (p.Gln166Ter)
c.493C>T (p.Gln165Ter)
c.325C>T (p.Gln109Ter)
ClinVar dbSNP
11g.67490344A>CCA381551545AIPc.651A>C
c.485A>C (p.Gln162Pro)
n.1186A>C
c.469-653A>C (n.469-653A>C)
c.305A>C (p.Gln102Pro)
c.674A>C (p.Gln225Pro)
c.497A>C (p.Gln166Pro)
c.494A>C (p.Gln165Pro)
c.326A>C (p.Gln109Pro)
11g.67490344A>GCA381551547AIPc.651A>G
c.485A>G (p.Gln162Arg)
n.1186A>G
c.469-653A>G (n.469-653A>G)
c.305A>G (p.Gln102Arg)
c.674A>G (p.Gln225Arg)
c.497A>G (p.Gln166Arg)
c.494A>G (p.Gln165Arg)
c.326A>G (p.Gln109Arg)
11g.67490344A>TCA381551548AIPc.651A>T
c.485A>T (p.Gln162Leu)
n.1186A>T
c.469-653A>T (n.469-653A>T)
c.305A>T (p.Gln102Leu)
c.674A>T (p.Gln225Leu)
c.497A>T (p.Gln166Leu)
c.494A>T (p.Gln165Leu)
c.326A>T (p.Gln109Leu)
11g.67490345G>ACA6140907AIPc.652G>A
c.486G>A (p.Gln162=)
n.1187G>A
c.469-652G>A (n.469-652G>A)
c.306G>A (p.Gln102=)
c.675G>A (p.Gln225=)
c.498G>A (p.Gln166=)
c.495G>A (p.Gln165=)
c.327G>A (p.Gln109=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490345G>CCA381551550AIPc.652G>C
c.486G>C (p.Gln162His)
n.1187G>C
c.469-652G>C (n.469-652G>C)
c.306G>C (p.Gln102His)
c.675G>C (p.Gln225His)
c.498G>C (p.Gln166His)
c.495G>C (p.Gln165His)
c.327G>C (p.Gln109His)
11g.67490345G=CA1980172414AIPc.652G=
c.486G= (p.Gln162=)
n.1187G=
c.469-652G= (n.469-652G=)
c.306G= (p.Gln102=)
c.675G= (p.Gln225=)
c.498G= (p.Gln166=)
c.495G= (p.Gln165=)
c.327G= (p.Gln109=)
11g.67490345G>TCA381551551AIPc.652G>T
c.486G>T (p.Gln162His)
n.1187G>T
c.469-652G>T (n.469-652G>T)
c.306G>T (p.Gln102His)
c.675G>T (p.Gln225His)
c.498G>T (p.Gln166His)
c.495G>T (p.Gln165His)
c.327G>T (p.Gln109His)
gnomAD v4
11g.67490346C>ACA381551553AIPc.653C>A
c.487C>A (p.Leu163Met)
n.1188C>A
c.469-651C>A (n.469-651C>A)
c.307C>A (p.Leu103Met)
c.676C>A (p.Leu226Met)
c.499C>A (p.Leu167Met)
c.496C>A (p.Leu166Met)
c.328C>A (p.Leu110Met)
11g.67490346C=CA1980172415AIPc.653C=
c.487C= (p.Leu163=)
n.1188C=
c.469-651C= (n.469-651C=)
c.307C= (p.Leu103=)
c.676C= (p.Leu226=)
c.499C= (p.Leu167=)
c.496C= (p.Leu166=)
c.328C= (p.Leu110=)
11g.67490346C>GCA6140908AIPc.653C>G
c.487C>G (p.Leu163Val)
n.1188C>G
c.469-651C>G (n.469-651C>G)
c.307C>G (p.Leu103Val)
c.676C>G (p.Leu226Val)
c.499C>G (p.Leu167Val)
c.496C>G (p.Leu166Val)
c.328C>G (p.Leu110Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490346C>TCA475509203AIPc.653C>T
c.487C>T (p.Leu163=)
n.1188C>T
c.469-651C>T (n.469-651C>T)
c.307C>T (p.Leu103=)
c.676C>T (p.Leu226=)
c.499C>T (p.Leu167=)
c.496C>T (p.Leu166=)
c.328C>T (p.Leu110=)
gnomAD v4
11g.67490347T>ACA381551555AIPc.654T>A
c.488T>A (p.Leu163Gln)
n.1189T>A
c.469-650T>A (n.469-650T>A)
c.308T>A (p.Leu103Gln)
c.677T>A (p.Leu226Gln)
c.500T>A (p.Leu167Gln)
c.497T>A (p.Leu166Gln)
c.329T>A (p.Leu110Gln)
11g.67490347T>CCA381551558AIPc.654T>C
c.488T>C (p.Leu163Pro)
n.1189T>C
c.469-650T>C (n.469-650T>C)
c.308T>C (p.Leu103Pro)
c.677T>C (p.Leu226Pro)
c.500T>C (p.Leu167Pro)
c.497T>C (p.Leu166Pro)
c.329T>C (p.Leu110Pro)

Number of alleles fetched