Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47441694T>ACA380329574RAPSNc.829A>T (p.Thr277Ser)
c.789+129A>T (n.789+129A>T)
c.670A>T (p.Thr224Ser)
n.38A>T
11g.47441694T>CCA351331RAPSNc.829A>G (p.Thr277Ala)
c.789+129A>G (n.789+129A>G)
c.670A>G (p.Thr224Ala)
n.38A>G
 ClinVar dbSNP
11g.47441694T>GCA380329582RAPSNc.829A>C (p.Thr277Pro)
c.789+129A>C (n.789+129A>C)
c.670A>C (p.Thr224Pro)
n.38A>C
11g.47441694T=CA1969387595RAPSNc.829A= (p.Thr277=)
c.789+129A= (n.789+129A=)
c.670A= (p.Thr224=)
n.38A=
11g.47441695C>ACA380329584RAPSNc.828G>T (p.Met276Ile)
c.789+128G>T (n.789+128G>T)
c.669G>T (p.Met223Ile)
n.37G>T
 gnomAD v4
11g.47441695C>GCA380329585RAPSNc.828G>C (p.Met276Ile)
c.789+128G>C (n.789+128G>C)
c.669G>C (p.Met223Ile)
n.37G>C
11g.47441695C>TCA380329587RAPSNc.828G>A (p.Met276Ile)
c.789+128G>A (n.789+128G>A)
c.669G>A (p.Met223Ile)
n.37G>A
11g.47441696A>CCA380329591RAPSNc.827T>G (p.Met276Arg)
c.789+127T>G (n.789+127T>G)
c.668T>G (p.Met223Arg)
n.36T>G
11g.47441696A>GCA380329593RAPSNc.827T>C (p.Met276Thr)
c.789+127T>C (n.789+127T>C)
c.668T>C (p.Met223Thr)
n.36T>C
 gnomAD v4
11g.47441696A>TCA380329602RAPSNc.827T>A (p.Met276Lys)
c.789+127T>A (n.789+127T>A)
c.668T>A (p.Met223Lys)
n.36T>A
11g.47441697T>ACA380329605RAPSNc.826A>T (p.Met276Leu)
c.789+126A>T (n.789+126A>T)
c.667A>T (p.Met223Leu)
n.35A>T
 gnomAD v4
11g.47441697T>CCA380329607RAPSNc.826A>G (p.Met276Val)
c.789+126A>G (n.789+126A>G)
c.667A>G (p.Met223Val)
n.35A>G
 ClinVar gnomAD v4
11g.47441697T>GCA380329610RAPSNc.826A>C (p.Met276Leu)
c.789+126A>C (n.789+126A>C)
c.667A>C (p.Met223Leu)
n.35A>C
11g.47441698G>ACA474218177RAPSNc.825C>T (p.Ile275=)
c.789+125C>T (n.789+125C>T)
c.666C>T (p.Ile222=)
n.34C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47441698G>CCA380329612RAPSNc.825C>G (p.Ile275Met)
c.789+125C>G (n.789+125C>G)
c.666C>G (p.Ile222Met)
n.34C>G
11g.47441698G=CA1969387596RAPSNc.825C= (p.Ile275=)
c.789+125C= (n.789+125C=)
c.666C= (p.Ile222=)
n.34C=
11g.47441698G>TCA474218178RAPSNc.825C>A (p.Ile275=)
c.789+125C>A (n.789+125C>A)
c.666C>A (p.Ile222=)
n.34C>A
 gnomAD v4
11g.47441699A=CA1969387597RAPSNc.824T= (p.Ile275=)
c.789+124T= (n.789+124T=)
c.665T= (p.Ile222=)
n.33T=
11g.47441699A>CCA5976609RAPSNc.824T>G (p.Ile275Ser)
c.789+124T>G (n.789+124T>G)
c.665T>G (p.Ile222Ser)
n.33T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441699A>GCA221716338RAPSNc.824T>C (p.Ile275Thr)
c.789+124T>C (n.789+124T>C)
c.665T>C (p.Ile222Thr)
n.33T>C
 dbSNP
11g.47441699A>TCA380329616RAPSNc.824T>A (p.Ile275Asn)
c.789+124T>A (n.789+124T>A)
c.665T>A (p.Ile222Asn)
n.33T>A
11g.47441700T>ACA380329635RAPSNc.823A>T (p.Ile275Phe)
c.789+123A>T (n.789+123A>T)
c.664A>T (p.Ile222Phe)
n.32A>T
11g.47441700T>CCA380329643RAPSNc.823A>G (p.Ile275Val)
c.789+123A>G (n.789+123A>G)
c.664A>G (p.Ile222Val)
n.32A>G
11g.47441700T>GCA380329639RAPSNc.823A>C (p.Ile275Leu)
c.789+123A>C (n.789+123A>C)
c.664A>C (p.Ile222Leu)
n.32A>C
11g.47441701G>ACA474218179RAPSNc.822C>T (p.Ser274=)
c.789+122C>T (n.789+122C>T)
c.663C>T (p.Ser221=)
n.31C>T
 ClinVar gnomAD v4
11g.47441701G>CCA380329646RAPSNc.822C>G (p.Ser274Arg)
c.789+122C>G (n.789+122C>G)
c.663C>G (p.Ser221Arg)
n.31C>G
11g.47441701G=CA1969387598RAPSNc.822C= (p.Ser274=)
c.789+122C= (n.789+122C=)
c.663C= (p.Ser221=)
n.31C=
11g.47441701G>TCA5976610RAPSNc.822C>A (p.Ser274Arg)
c.789+122C>A (n.789+122C>A)
c.663C>A (p.Ser221Arg)
n.31C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441702C>ACA380329649RAPSNc.821G>T (p.Ser274Ile)
c.789+121G>T (n.789+121G>T)
c.662G>T (p.Ser221Ile)
n.30G>T
11g.47441702C=CA1969387599RAPSNc.821G= (p.Ser274=)
c.789+121G= (n.789+121G=)
c.662G= (p.Ser221=)
n.30G=
11g.47441702C>GCA380329652RAPSNc.821G>C (p.Ser274Thr)
c.789+121G>C (n.789+121G>C)
c.662G>C (p.Ser221Thr)
n.30G>C
11g.47441702C>TCA5976611RAPSNc.821G>A (p.Ser274Asn)
c.789+121G>A (n.789+121G>A)
c.662G>A (p.Ser221Asn)
n.30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441703T>ACA380329658RAPSNc.820A>T (p.Ser274Cys)
c.789+120A>T (n.789+120A>T)
c.661A>T (p.Ser221Cys)
n.29A>T
11g.47441703T>CCA380329659RAPSNc.820A>G (p.Ser274Gly)
c.789+120A>G (n.789+120A>G)
c.661A>G (p.Ser221Gly)
n.29A>G
11g.47441703T>GCA221716343RAPSNc.820A>C (p.Ser274Arg)
c.789+120A>C (n.789+120A>C)
c.661A>C (p.Ser221Arg)
n.29A>C
 dbSNP gnomAD v3 gnomAD v4
11g.47441703T=CA1969387600RAPSNc.820A= (p.Ser274=)
c.789+120A= (n.789+120A=)
c.661A= (p.Ser221=)
n.29A=
11g.47441704C>ACA380329662RAPSNc.819G>T (p.Met273Ile)
c.789+119G>T (n.789+119G>T)
c.660G>T (p.Met220Ile)
n.28G>T
11g.47441704C=CA1969387601RAPSNc.819G= (p.Met273=)
c.789+119G= (n.789+119G=)
c.660G= (p.Met220=)
n.28G=
11g.47441704C>GCA380329666RAPSNc.819G>C (p.Met273Ile)
c.789+119G>C (n.789+119G>C)
c.660G>C (p.Met220Ile)
n.28G>C
11g.47441704C>TCA5976612RAPSNc.819G>A (p.Met273Ile)
c.789+119G>A (n.789+119G>A)
c.660G>A (p.Met220Ile)
n.28G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A=CA1969387602RAPSNc.818T= (p.Met273=)
c.789+118T= (n.789+118T=)
c.659T= (p.Met220=)
n.27T=
11g.47441705A>CCA221716353RAPSNc.818T>G (p.Met273Arg)
c.789+118T>G (n.789+118T>G)
c.659T>G (p.Met220Arg)
n.27T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A>GCA380329687RAPSNc.818T>C (p.Met273Thr)
c.789+118T>C (n.789+118T>C)
c.659T>C (p.Met220Thr)
n.27T>C
 dbSNP gnomAD v4
11g.47441705A>TCA380329685RAPSNc.818T>A (p.Met273Lys)
c.789+118T>A (n.789+118T>A)
c.659T>A (p.Met220Lys)
n.27T>A
11g.47441706T>ACA380329699RAPSNc.817A>T (p.Met273Leu)
c.789+117A>T (n.789+117A>T)
c.658A>T (p.Met220Leu)
n.26A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441706T>CCA380329701RAPSNc.817A>G (p.Met273Val)
c.789+117A>G (n.789+117A>G)
c.658A>G (p.Met220Val)
n.26A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441706T>GCA380329703RAPSNc.817A>C (p.Met273Leu)
c.789+117A>C (n.789+117A>C)
c.658A>C (p.Met220Leu)
n.26A>C
 ClinVar gnomAD v4
11g.47441706T=CA1969387603RAPSNc.817A= (p.Met273=)
c.789+117A= (n.789+117A=)
c.658A= (p.Met220=)
n.26A=
11g.47441707G>ACA5976613RAPSNc.816C>T (p.Ala272=)
c.789+116C>T (n.789+116C>T)
c.657C>T (p.Ala219=)
n.25C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441707G>CCA474218182RAPSNc.816C>G (p.Ala272=)
c.789+116C>G (n.789+116C>G)
c.657C>G (p.Ala219=)
n.25C>G

Number of alleles fetched