Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.73332122C>ACA2580089968HCN4c.1371+9G>T (n.1371+9G>T)
c.153+9G>T (n.153+9G>T)
ClinVar gnomAD v4
15g.73332122C=CA2187169682HCN4c.1371+9G= (n.1371+9G=)
c.153+9G= (n.153+9G=)
15g.73332122C>TCA222867HCN4c.1371+9G>A (n.1371+9G>A)
c.153+9G>A (n.153+9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73332123G>ACA199742HCN4c.1371+8C>T (n.1371+8C>T)
c.153+8C>T (n.153+8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73332123G=CA2187169692HCN4c.1371+8C= (n.1371+8C=)
c.153+8C= (n.153+8C=)
15g.73332126C>TCA2629388813HCN4c.1371+5G>A (n.1371+5G>A)
c.153+5G>A (n.153+5G>A)
gnomAD v4
15g.73332128C>TCA2629388814HCN4c.1371+3G>A (n.1371+3G>A)
c.153+3G>A (n.153+3G>A)
gnomAD v4
15g.73332129A>CCA393094222HCN4c.1371+2T>G (n.1371+2T>G)
c.153+2T>G (n.153+2T>G)
15g.73332129A>GCA393094223HCN4c.1371+2T>C (n.1371+2T>C)
c.153+2T>C (n.153+2T>C)
15g.73332129A>TCA393094224HCN4c.1371+2T>A (n.1371+2T>A)
c.153+2T>A (n.153+2T>A)
15g.73332130C>ACA7649322HCN4c.1371+1G>T (n.1371+1G>T)
c.153+1G>T (n.153+1G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.73332130C=CA2187169698HCN4c.1371+1G= (n.1371+1G=)
c.153+1G= (n.153+1G=)
15g.73332130C>GCA393094226HCN4c.1371+1G>C (n.1371+1G>C)
c.153+1G>C (n.153+1G>C)
15g.73332130C>TCA393094225HCN4c.1371+1G>A (n.1371+1G>A)
c.153+1G>A (n.153+1G>A)
15g.73332131C>ACA491152519HCN4c.1371G>T (p.Val457=)
c.153G>T (p.Val51=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73332131C=CA2187169702HCN4c.1371G= (p.Val457=)
c.153G= (p.Val51=)
15g.73332131C>GCA491152520HCN4c.1371G>C (p.Val457=)
c.153G>C (p.Val51=)
15g.73332131C>TCA491152521HCN4c.1371G>A (p.Val457=)
c.153G>A (p.Val51=)
15g.73332132A>CCA393094227HCN4c.1370T>G (p.Val457Gly)
c.152T>G (p.Val51Gly)
15g.73332132A>GCA393094229HCN4c.1370T>C (p.Val457Ala)
c.152T>C (p.Val51Ala)
15g.73332132A>TCA393094228HCN4c.1370T>A (p.Val457Glu)
c.152T>A (p.Val51Glu)
15g.73332133C>ACA393094230HCN4c.1369G>T (p.Val457Leu)
c.151G>T (p.Val51Leu)
15g.73332133C=CA2187169706HCN4c.1369G= (p.Val457=)
c.151G= (p.Val51=)
15g.73332133C>GCA393094232HCN4c.1369G>C (p.Val457Leu)
c.151G>C (p.Val51Leu)
15g.73332133C>TCA393094231HCN4c.1369G>A (p.Val457Met)
c.151G>A (p.Val51Met)
dbSNP
15g.73332134C>ACA393094233HCN4c.1368G>T (p.Met456Ile)
c.150G>T (p.Met50Ile)
15g.73332134C>GCA393094235HCN4c.1368G>C (p.Met456Ile)
c.150G>C (p.Met50Ile)
15g.73332134C>TCA393094234HCN4c.1368G>A (p.Met456Ile)
c.150G>A (p.Met50Ile)
ClinVar
15g.73332135A>CCA393094236HCN4c.1367T>G (p.Met456Arg)
c.149T>G (p.Met50Arg)
15g.73332135A>GCA393094238HCN4c.1367T>C (p.Met456Thr)
c.149T>C (p.Met50Thr)
15g.73332135A>TCA393094237HCN4c.1367T>A (p.Met456Lys)
c.149T>A (p.Met50Lys)
15g.73332136T>ACA393094239HCN4c.1366A>T (p.Met456Leu)
c.148A>T (p.Met50Leu)
15g.73332136T>CCA393094240HCN4c.1366A>G (p.Met456Val)
c.148A>G (p.Met50Val)
gnomAD v4
15g.73332136T>GCA393094241HCN4c.1366A>C (p.Met456Leu)
c.148A>C (p.Met50Leu)
15g.73332137G>ACA491152522HCN4c.1365C>T (p.Asn455=)
c.147C>T (p.Asn49=)
gnomAD v4
15g.73332137G>CCA393094242HCN4c.1365C>G (p.Asn455Lys)
c.147C>G (p.Asn49Lys)
15g.73332137G>TCA393094243HCN4c.1365C>A (p.Asn455Lys)
c.147C>A (p.Asn49Lys)
15g.73332138T>ACA393094244HCN4c.1364A>T (p.Asn455Ile)
c.146A>T (p.Asn49Ile)
15g.73332138T>CCA393094245HCN4c.1364A>G (p.Asn455Ser)
c.146A>G (p.Asn49Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73332138T>GCA393094246HCN4c.1364A>C (p.Asn455Thr)
c.146A>C (p.Asn49Thr)
15g.73332138T=CA2187169712HCN4c.1364A= (p.Asn455=)
c.146A= (p.Asn49=)
15g.73332138_73332140delinsTTGCA2187169714HCN4c.1362_1364delinsCAA (p.Asn454=)
c.144_146delinsCAA (p.Asn48=)
15g.73332139T>ACA393094247HCN4c.1363A>T (p.Asn455Tyr)
c.145A>T (p.Asn49Tyr)
15g.73332139T>CCA393094248HCN4c.1363A>G (p.Asn455Asp)
c.145A>G (p.Asn49Asp)
dbSNP
15g.73332139T>GCA393094249HCN4c.1363A>C (p.Asn455His)
c.145A>C (p.Asn49His)
15g.73332139T=CA2187169718HCN4c.1363A= (p.Asn455=)
c.145A= (p.Asn49=)
15g.73332140_73332141delCA971407310HCN4c.1362_1363del (p.Asn454LysfsTer?)
c.144_145del (p.Asn48LysfsTer?)
dbSNP gnomAD v3 gnomAD v4
15g.73332140G>ACA491152523HCN4c.1362C>T (p.Asn454=)
c.144C>T (p.Asn48=)
15g.73332140G>CCA393094250HCN4c.1362C>G (p.Asn454Lys)
c.144C>G (p.Asn48Lys)
15g.73332140G>TCA393094251HCN4c.1362C>A (p.Asn454Lys)
c.144C>A (p.Asn48Lys)

Number of alleles fetched