Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.128911444T>A	CA383246341	KCNJ5	c.171T>A (p.Ser57Arg)	dbSNP gnomAD v3 gnomAD v4
11	g.128911444T>C	CA291749	KCNJ5	c.171T>C (p.Ser57=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128911444T>G	CA383246343	KCNJ5	c.171T>G (p.Ser57Arg)
11	g.128911444T=	CA2008292261	KCNJ5	c.171T= (p.Ser57=)
11	g.128911444_128911445delinsCA	CA915947859	KCNJ5	c.171_172delinsCA (p.Gly58Ser)	ClinVar
11	g.128911444_128911464del	CA2575025398	KCNJ5	c.171_191del (p.Gly58_His64del)
11	g.128911445G>A	CA6357833	KCNJ5	c.172G>A (p.Gly58Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128911445G>C	CA383246348	KCNJ5	c.172G>C (p.Gly58Arg)
11	g.128911445G=	CA2008292262	KCNJ5	c.172G= (p.Gly58=)
11	g.128911445G>T	CA383246347	KCNJ5	c.172G>T (p.Gly58Cys)
11	g.128911446G>A	CA383246352	KCNJ5	c.173G>A (p.Gly58Asp)
11	g.128911446G>C	CA383246356	KCNJ5	c.173G>C (p.Gly58Ala)
11	g.128911446G>T	CA383246360	KCNJ5	c.173G>T (p.Gly58Val)
11	g.128911447C>A	CA477703591	KCNJ5	c.174C>A (p.Gly58=)
11	g.128911447C>G	CA477703589	KCNJ5	c.174C>G (p.Gly58=)
11	g.128911447C>T	CA477703590	KCNJ5	c.174C>T (p.Gly58=)	dbSNP COSMIC
11	g.128911448A=	CA2008292263	KCNJ5	c.175A= (p.Lys59=)
11	g.128911448A>C	CA6357834	KCNJ5	c.175A>C (p.Lys59Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.128911448A>G	CA383246364	KCNJ5	c.175A>G (p.Lys59Glu)
11	g.128911448A>T	CA383246365	KCNJ5	c.175A>T (p.Lys59Ter)
11	g.128911449A=	CA2008292264	KCNJ5	c.176A= (p.Lys59=)
11	g.128911449A>C	CA383246367	KCNJ5	c.176A>C (p.Lys59Thr)
11	g.128911449A>G	CA383246370	KCNJ5	c.176A>G (p.Lys59Arg)	dbSNP
11	g.128911449A>T	CA383246372	KCNJ5	c.176A>T (p.Lys59Met)
11	g.128911450G>A	CA477703593	KCNJ5	c.177G>A (p.Lys59=)
11	g.128911450G>C	CA383246375	KCNJ5	c.177G>C (p.Lys59Asn)
11	g.128911450G>T	CA383246377	KCNJ5	c.177G>T (p.Lys59Asn)
11	g.128911451T>A	CA383246380	KCNJ5	c.178T>A (p.Cys60Ser)
11	g.128911451T>C	CA383246383	KCNJ5	c.178T>C (p.Cys60Arg)
11	g.128911451T>G	CA383246381	KCNJ5	c.178T>G (p.Cys60Gly)
11	g.128911452G>A	CA383246384	KCNJ5	c.179G>A (p.Cys60Tyr)	gnomAD v4
11	g.128911452G>C	CA383246386	KCNJ5	c.179G>C (p.Cys60Ser)
11	g.128911452G>T	CA383246389	KCNJ5	c.179G>T (p.Cys60Phe)
11	g.128911459_128911473del	CA2616775462	KCNJ5	c.186_200del (p.His63_Val67del)	gnomAD v4
11	g.128911453C>A	CA383246393	KCNJ5	c.180C>A (p.Cys60Ter)
11	g.128911453C=	CA2008292265	KCNJ5	c.180C= (p.Cys60=)
11	g.128911453C>G	CA383246395	KCNJ5	c.180C>G (p.Cys60Trp)	dbSNP
11	g.128911453C>T	CA477703602	KCNJ5	c.180C>T (p.Cys60=)
11	g.128911454A>C	CA383246399	KCNJ5	c.181A>C (p.Asn61His)
11	g.128911454A>G	CA383246401	KCNJ5	c.181A>G (p.Asn61Asp)
11	g.128911454A>T	CA383246403	KCNJ5	c.181A>T (p.Asn61Tyr)
11	g.128911455A>C	CA383246408	KCNJ5	c.182A>C (p.Asn61Thr)
11	g.128911455A>G	CA383246409	KCNJ5	c.182A>G (p.Asn61Ser)	ClinVar gnomAD v4
11	g.128911455A>T	CA383246412	KCNJ5	c.182A>T (p.Asn61Ile)
11	g.128911456C>A	CA383246419	KCNJ5	c.183C>A (p.Asn61Lys)
11	g.128911456C=	CA2008292266	KCNJ5	c.183C= (p.Asn61=)
11	g.128911456C>G	CA383246418	KCNJ5	c.183C>G (p.Asn61Lys)	gnomAD v4
11	g.128911456C>T	CA6357835	KCNJ5	c.183C>T (p.Asn61=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128911457G>A	CA383246422	KCNJ5	c.184G>A (p.Val62Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.128911457G>C	CA383246425	KCNJ5	c.184G>C (p.Val62Leu)

Number of alleles fetched