Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.74773969_74776493del	CA2580613902			ClinVar
16	g.74774556_74774557del	CA2838909644	FA2H	c.201_202del (p.His67GlnfsTer?)
16	g.74774556_74774559delinsTGCG	CA2232982553	FA2H	c.197_200delinsCGCA (p.Pro66=)
16	g.74774557G>A	CA396768209	FA2H	c.199C>T (p.His67Tyr)
16	g.74774557G>C	CA396768210	FA2H	c.199C>G (p.His67Asp)
16	g.74774557G>T	CA396768211	FA2H	c.199C>A (p.His67Asn)	gnomAD v4
16	g.74774558_74774559del	CA2840598181	FA2H	c.198_199del (p.His67GlnfsTer?)
16	g.74774562_74774564del	CA979036928	FA2H	c.197_199del (p.Pro66del)	dbSNP gnomAD v3 gnomAD v4
16	g.74774558del	CA2634290008	FA2H	c.198del (p.His67ThrfsTer?)	gnomAD v4
16	g.74774558C>A	CA496690748	FA2H	c.198G>T (p.Pro66=)	gnomAD v4
16	g.74774558C=	CA2232982561	FA2H	c.198G= (p.Pro66=)
16	g.74774558C>G	CA8170619	FA2H	c.198G>C (p.Pro66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774558C>T	CA496690753	FA2H	c.198G>A (p.Pro66=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.74774559G>A	CA396768212	FA2H	c.197C>T (p.Pro66Leu)	dbSNP gnomAD v3 gnomAD v4
16	g.74774559G>C	CA396768213	FA2H	c.197C>G (p.Pro66Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774559G=	CA2232982563	FA2H	c.197C= (p.Pro66=)
16	g.74774559G>T	CA396768214	FA2H	c.197C>A (p.Pro66Gln)	gnomAD v4
16	g.74774559_74774560insCC	CA2839207634	FA2H	c.196_197insGG (p.Pro66ArgfsTer?)
16	g.74774560G>A	CA396768215	FA2H	c.196C>T (p.Pro66Ser)	dbSNP gnomAD v2 gnomAD v4
16	g.74774560G>C	CA396768216	FA2H	c.196C>G (p.Pro66Ala)
16	g.74774560G=	CA2232982564	FA2H	c.196C= (p.Pro66=)
16	g.74774560G>T	CA396768217	FA2H	c.196C>A (p.Pro66Thr)	gnomAD v4
16	g.74774560_74774561insACCTGGA	CA2839697594	FA2H	c.195_196insTCCAGGT (p.Pro66SerfsTer?)
16	g.74774561del	CA2634290009	FA2H	c.195del (p.Pro66ArgfsTer?)	gnomAD v4
16	g.74774561C>A	CA496690755	FA2H	c.195G>T (p.Pro65=)	gnomAD v4
16	g.74774561C=	CA2232982565	FA2H	c.195G= (p.Pro65=)
16	g.74774561C>G	CA496690756	FA2H	c.195G>C (p.Pro65=)
16	g.74774561C>T	CA8170620	FA2H	c.195G>A (p.Pro65=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.74774562G>A	CA396768218	FA2H	c.194C>T (p.Pro65Leu)	gnomAD v4
16	g.74774562G>C	CA396768219	FA2H	c.194C>G (p.Pro65Arg)	dbSNP gnomAD v4
16	g.74774562G=	CA2232982566	FA2H	c.194C= (p.Pro65=)
16	g.74774562G>T	CA396768220	FA2H	c.194C>A (p.Pro65Gln)	gnomAD v4
16	g.74774563G>A	CA396768221	FA2H	c.193C>T (p.Pro65Ser)	gnomAD v4
16	g.74774563G>C	CA396768222	FA2H	c.193C>G (p.Pro65Ala)
16	g.74774563G>T	CA396768223	FA2H	c.193C>A (p.Pro65Thr)	gnomAD v4
16	g.74774564C>A	CA496690762	FA2H	c.192G>T (p.Gly64=)	gnomAD v4
16	g.74774564C>G	CA496690764	FA2H	c.192G>C (p.Gly64=)
16	g.74774564C>T	CA496690766	FA2H	c.192G>A (p.Gly64=)	gnomAD v4
16	g.74774565C>A	CA396768224	FA2H	c.191G>T (p.Gly64Val)	gnomAD v4
16	g.74774565C=	CA2232982567	FA2H	c.191G= (p.Gly64=)
16	g.74774565C>G	CA396768225	FA2H	c.191G>C (p.Gly64Ala)
16	g.74774565C>T	CA283769947	FA2H	c.191G>A (p.Gly64Glu)	dbSNP gnomAD v2 gnomAD v4
16	g.74774566C>A	CA396768226	FA2H	c.190G>T (p.Gly64Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774566C=	CA2232982569	FA2H	c.190G= (p.Gly64=)
16	g.74774566C>G	CA396768227	FA2H	c.190G>C (p.Gly64Arg)	ClinVar dbSNP gnomAD v4 COSMIC
16	g.74774566C>T	CA396768228	FA2H	c.190G>A (p.Gly64Arg)	dbSNP gnomAD v2 gnomAD v4
16	g.74774567G>A	CA496690770	FA2H	c.189C>T (p.Asp63=)	gnomAD v4
16	g.74774567G>C	CA396768230	FA2H	c.189C>G (p.Asp63Glu)
16	g.74774567G>T	CA396768229	FA2H	c.189C>A (p.Asp63Glu)	gnomAD v4
16	g.74774568T>A	CA396768231	FA2H	c.188A>T (p.Asp63Val)
16	g.74774568T>C	CA396768232	FA2H	c.188A>G (p.Asp63Gly)	gnomAD v4
16	g.74774568T>G	CA396768233	FA2H	c.188A>C (p.Asp63Ala)
16	g.74774569C>A	CA396768234	FA2H	c.187G>T (p.Asp63Tyr)	gnomAD v4
16	g.74774569C>G	CA396768235	FA2H	c.187G>C (p.Asp63His)
16	g.74774569C>T	CA396768236	FA2H	c.187G>A (p.Asp63Asn)	gnomAD v4
16	g.74774570C>A	CA496690772	FA2H	c.186G>T (p.Leu62=)	gnomAD v4
16	g.74774570C>G	CA496690774	FA2H	c.186G>C (p.Leu62=)
16	g.74774570C>T	CA496690773	FA2H	c.186G>A (p.Leu62=)	gnomAD v4
16	g.74774571A=	CA2232982570	FA2H	c.185T= (p.Leu62=)
16	g.74774571A>C	CA396768239	FA2H	c.185T>G (p.Leu62Arg)
16	g.74774571A>G	CA396768237	FA2H	c.185T>C (p.Leu62Pro)	dbSNP gnomAD v3 gnomAD v4
16	g.74774571A>T	CA396768238	FA2H	c.185T>A (p.Leu62Gln)	gnomAD v4
16	g.74774572G>A	CA8170621	FA2H	c.184C>T (p.Leu62=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.74774572G>C	CA396768240	FA2H	c.184C>G (p.Leu62Val)
16	g.74774572G=	CA2232982571	FA2H	c.184C= (p.Leu62=)
16	g.74774572G>T	CA396768241	FA2H	c.184C>A (p.Leu62Met)	gnomAD v4
16	g.74774573G>A	CA496690778	FA2H	c.183C>T (p.Asp61=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774573G>C	CA396768242	FA2H	c.183C>G (p.Asp61Glu)
16	g.74774573G=	CA2232982572	FA2H	c.183C= (p.Asp61=)
16	g.74774573G>T	CA396768243	FA2H	c.183C>A (p.Asp61Glu)	gnomAD v4
16	g.74774574T>A	CA396768244	FA2H	c.182A>T (p.Asp61Val)
16	g.74774574T>C	CA396768246	FA2H	c.182A>G (p.Asp61Gly)
16	g.74774574T>G	CA396768245	FA2H	c.182A>C (p.Asp61Ala)
16	g.74774575C>A	CA396768247	FA2H	c.181G>T (p.Asp61Tyr)	gnomAD v4
16	g.74774575C=	CA2232982576	FA2H	c.181G= (p.Asp61=)
16	g.74774575C>G	CA396768248	FA2H	c.181G>C (p.Asp61His)
16	g.74774575C>T	CA396768249	FA2H	c.181G>A (p.Asp61Asn)	dbSNP gnomAD v2 gnomAD v4
16	g.74774576G>A	CA496690784	FA2H	c.180C>T (p.Ala60=)	gnomAD v4
16	g.74774576G>C	CA496690785	FA2H	c.180C>G (p.Ala60=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774576G=	CA2232982581	FA2H	c.180C= (p.Ala60=)
16	g.74774576G>T	CA496690786	FA2H	c.180C>A (p.Ala60=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774577G>A	CA396768250	FA2H	c.179C>T (p.Ala60Val)	gnomAD v4
16	g.74774577G>C	CA396768251	FA2H	c.179C>G (p.Ala60Gly)
16	g.74774577G>T	CA396768252	FA2H	c.179C>A (p.Ala60Asp)	gnomAD v4
16	g.74774578C>A	CA396768253	FA2H	c.178G>T (p.Ala60Ser)	gnomAD v4
16	g.74774578C=	CA2232982582	FA2H	c.178G= (p.Ala60=)
16	g.74774578C>G	CA396768254	FA2H	c.178G>C (p.Ala60Pro)
16	g.74774578C>T	CA8170622	FA2H	c.178G>A (p.Ala60Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774579G>A	CA496690790	FA2H	c.177C>T (p.Ser59=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774579G>C	CA396768255	FA2H	c.177C>G (p.Ser59Arg)
16	g.74774579G=	CA2232982584	FA2H	c.177C= (p.Ser59=)
16	g.74774579G>T	CA396768256	FA2H	c.177C>A (p.Ser59Arg)	gnomAD v4
16	g.74774579_74774597delinsGCTGATGTCCTGGCCCGCC	CA2232982583	FA2H	c.159_177delinsGGCGGGCCAGGACATCAGC (p.Arg53=)
16	g.74774580C>A	CA396768258	FA2H	c.176G>T (p.Ser59Ile)	gnomAD v4
16	g.74774580C>G	CA396768257	FA2H	c.176G>C (p.Ser59Thr)	ClinVar dbSNP
16	g.74774580C>T	CA396768259	FA2H	c.176G>A (p.Ser59Asn)	gnomAD v4
16	g.74774583_74774600del	CA259928	FA2H	c.159_176del (p.Arg53_Ile58del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.74774581T>A	CA396768262	FA2H	c.175A>T (p.Ser59Cys)
16	g.74774581T>C	CA396768260	FA2H	c.175A>G (p.Ser59Gly)	gnomAD v4
16	g.74774581T>G	CA396768261	FA2H	c.175A>C (p.Ser59Arg)
16	g.74774582G>A	CA496690795	FA2H	c.174C>T (p.Ile58=)	gnomAD v4
16	g.74774582G>C	CA396768263	FA2H	c.174C>G (p.Ile58Met)
16	g.74774582G>T	CA496690796	FA2H	c.174C>A (p.Ile58=)	gnomAD v4
16	g.74774583A=	CA2232982585	FA2H	c.173T= (p.Ile58=)
16	g.74774583A>C	CA396768264	FA2H	c.173T>G (p.Ile58Ser)
16	g.74774583A>G	CA283769973	FA2H	c.173T>C (p.Ile58Thr)	ClinVar dbSNP gnomAD v4
16	g.74774583A>T	CA396768265	FA2H	c.173T>A (p.Ile58Asn)	gnomAD v4
16	g.74774584T>A	CA396768266	FA2H	c.172A>T (p.Ile58Phe)	gnomAD v4
16	g.74774584T>C	CA396768267	FA2H	c.172A>G (p.Ile58Val)	gnomAD v4
16	g.74774584T>G	CA396768268	FA2H	c.172A>C (p.Ile58Leu)
16	g.74774585G>A	CA496690800	FA2H	c.171C>T (p.Asp57=)	gnomAD v4
16	g.74774585G>C	CA396768269	FA2H	c.171C>G (p.Asp57Glu)
16	g.74774585G>T	CA396768270	FA2H	c.171C>A (p.Asp57Glu)	gnomAD v4
16	g.74774586_74774595dup	CA2739266892	FA2H	c.162_171dup (p.Ile58GlyfsTer?)	ClinVar
16	g.74774586T>A	CA396768273	FA2H	c.170A>T (p.Asp57Val)
16	g.74774586T>C	CA396768272	FA2H	c.170A>G (p.Asp57Gly)	gnomAD v4
16	g.74774586T>G	CA396768271	FA2H	c.170A>C (p.Asp57Ala)
16	g.74774586_74774596delinsTCCTGGCCCGC	CA2232982586	FA2H	c.160_170delinsGCGGGCCAGGA (p.Ala54=)
16	g.74774587C>A	CA396768274	FA2H	c.169G>T (p.Asp57Tyr)	gnomAD v4
16	g.74774587C>G	CA396768275	FA2H	c.169G>C (p.Asp57His)
16	g.74774587C>T	CA396768276	FA2H	c.169G>A (p.Asp57Asn)	gnomAD v4
16	g.74774597_74774606dup	CA052490	FA2H	c.160_169dup (p.Asp57GlyfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.74774597_74774606del	CA915949347	FA2H	c.160_169del (p.Ala54ThrfsTer?)	ClinVar dbSNP gnomAD v4
16	g.74774588C>A	CA396768277	FA2H	c.168G>T (p.Gln56His)	gnomAD v4
16	g.74774588C>G	CA396768278	FA2H	c.168G>C (p.Gln56His)
16	g.74774588C>T	CA496690804	FA2H	c.168G>A (p.Gln56=)	gnomAD v4
16	g.74774589T>A	CA396768279	FA2H	c.167A>T (p.Gln56Leu)
16	g.74774589T>C	CA396768280	FA2H	c.167A>G (p.Gln56Arg)	gnomAD v4
16	g.74774589T>G	CA396768281	FA2H	c.167A>C (p.Gln56Pro)
16	g.74774589_74774590delinsTG	CA2232982589	FA2H	c.166_167delinsCA (p.Gln56=)
16	g.74774590G>A	CA396768282	FA2H	c.166C>T (p.Gln56Ter)
16	g.74774590G>C	CA396768283	FA2H	c.166C>G (p.Gln56Glu)	dbSNP
16	g.74774590G=	CA2232982590	FA2H	c.166C= (p.Gln56=)
16	g.74774590G>T	CA396768284	FA2H	c.166C>A (p.Gln56Lys)	gnomAD v4
16	g.74774591del	CA1139664822	FA2H	c.166del (p.Gln56ArgfsTer?)	ClinVar dbSNP gnomAD v4
16	g.74774591G>A	CA496690813	FA2H	c.165C>T (p.Gly55=)	gnomAD v4
16	g.74774591G>C	CA496690814	FA2H	c.165C>G (p.Gly55=)	gnomAD v4
16	g.74774591G>T	CA496690812	FA2H	c.165C>A (p.Gly55=)	gnomAD v4
16	g.74774592C>A	CA396768286	FA2H	c.164G>T (p.Gly55Val)	gnomAD v4
16	g.74774592C>G	CA396768287	FA2H	c.164G>C (p.Gly55Ala)
16	g.74774592C>T	CA396768285	FA2H	c.164G>A (p.Gly55Asp)	gnomAD v4
16	g.74774594dup	CA2634290010	FA2H	c.164dup (p.Gln56ProfsTer?)	gnomAD v4
16	g.74774594del	CA2634290011	FA2H	c.164del (p.Gly55AlafsTer?)	gnomAD v4
16	g.74774593C>A	CA396768288	FA2H	c.163G>T (p.Gly55Cys)	gnomAD v4
16	g.74774593C=	CA2232982591	FA2H	c.163G= (p.Gly55=)
16	g.74774593C>G	CA396768289	FA2H	c.163G>C (p.Gly55Arg)
16	g.74774593C>T	CA396768290	FA2H	c.163G>A (p.Gly55Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774594C>A	CA496690819	FA2H	c.162G>T (p.Ala54=)	ClinVar dbSNP gnomAD v4
16	g.74774594C=	CA2232982593	FA2H	c.162G= (p.Ala54=)
16	g.74774594C>G	CA496690822	FA2H	c.162G>C (p.Ala54=)	dbSNP
16	g.74774594C>T	CA8170623	FA2H	c.162G>A (p.Ala54=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774595G>A	CA396768291	FA2H	c.161C>T (p.Ala54Val)	dbSNP gnomAD v2 gnomAD v4
16	g.74774595G>C	CA396768292	FA2H	c.161C>G (p.Ala54Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.74774595G=	CA2232982597	FA2H	c.161C= (p.Ala54=)
16	g.74774595G>T	CA396768293	FA2H	c.161C>A (p.Ala54Glu)	gnomAD v4
16	g.74774596C>A	CA396768294	FA2H	c.160G>T (p.Ala54Ser)	gnomAD v4
16	g.74774596C>G	CA396768295	FA2H	c.160G>C (p.Ala54Pro)	gnomAD v4
16	g.74774596C>T	CA396768296	FA2H	c.160G>A (p.Ala54Thr)	gnomAD v4
16	g.74774598del	CA2634290012	FA2H	c.160del (p.Ala54ArgfsTer?)	gnomAD v4
16	g.74774597C>A	CA396768297	FA2H	c.159G>T (p.Arg53Ser)	gnomAD v4
16	g.74774597C>G	CA396768298	FA2H	c.159G>C (p.Arg53Ser)
16	g.74774597C>T	CA496690825	FA2H	c.159G>A (p.Arg53=)	ClinVar gnomAD v4
16	g.74774598C>A	CA396768301	FA2H	c.158G>T (p.Arg53Met)	gnomAD v4
16	g.74774598C>G	CA396768299	FA2H	c.158G>C (p.Arg53Thr)
16	g.74774598C>T	CA396768300	FA2H	c.158G>A (p.Arg53Lys)
16	g.74774599T>A	CA396768302	FA2H	c.157A>T (p.Arg53Trp)
16	g.74774599T>C	CA396768303	FA2H	c.157A>G (p.Arg53Gly)	gnomAD v4
16	g.74774599T>G	CA496690827	FA2H	c.157A>C (p.Arg53=)
16	g.74774600G>A	CA496690828	FA2H	c.156C>T (p.Ala52=)	gnomAD v4
16	g.74774600G>C	CA496690829	FA2H	c.156C>G (p.Ala52=)
16	g.74774600G>T	CA496690830	FA2H	c.156C>A (p.Ala52=)	gnomAD v4
16	g.74774601G>A	CA396768304	FA2H	c.155C>T (p.Ala52Val)	gnomAD v4
16	g.74774601G>C	CA396768305	FA2H	c.155C>G (p.Ala52Gly)
16	g.74774601G>T	CA396768306	FA2H	c.155C>A (p.Ala52Asp)	gnomAD v4
16	g.74774602C>A	CA396768307	FA2H	c.154G>T (p.Ala52Ser)	gnomAD v4
16	g.74774602C>G	CA396768308	FA2H	c.154G>C (p.Ala52Pro)
16	g.74774602C>T	CA396768309	FA2H	c.154G>A (p.Ala52Thr)	gnomAD v4
16	g.74774603C>A	CA496690834	FA2H	c.153G>T (p.Arg51=)	gnomAD v4
16	g.74774603C>G	CA496690835	FA2H	c.153G>C (p.Arg51=)
16	g.74774603C>T	CA496690836	FA2H	c.153G>A (p.Arg51=)	gnomAD v4
16	g.74774604C>A	CA396768310	FA2H	c.152G>T (p.Arg51Leu)	gnomAD v4
16	g.74774604C>G	CA396768311	FA2H	c.152G>C (p.Arg51Pro)
16	g.74774604C>T	CA396768312	FA2H	c.152G>A (p.Arg51Gln)	gnomAD v4
16	g.74774605G>A	CA396768313	FA2H	c.151C>T (p.Arg51Trp)	dbSNP gnomAD v2 gnomAD v4
16	g.74774605G>C	CA396768314	FA2H	c.151C>G (p.Arg51Gly)
16	g.74774605G=	CA2232982598	FA2H	c.151C= (p.Arg51=)
16	g.74774605G>T	CA496690840	FA2H	c.151C>A (p.Arg51=)	gnomAD v4
16	g.74774606C>A	CA496690842	FA2H	c.150G>T (p.Leu50=)	gnomAD v4
16	g.74774606C>G	CA496690843	FA2H	c.150G>C (p.Leu50=)
16	g.74774606C>T	CA496690844	FA2H	c.150G>A (p.Leu50=)	gnomAD v4
16	g.74774607A>C	CA396768317	FA2H	c.149T>G (p.Leu50Arg)
16	g.74774607A>G	CA396768316	FA2H	c.149T>C (p.Leu50Pro)	gnomAD v4
16	g.74774607A>T	CA396768315	FA2H	c.149T>A (p.Leu50Gln)
16	g.74774608G>A	CA496690845	FA2H	c.148C>T (p.Leu50=)	ClinVar dbSNP gnomAD v4
16	g.74774608G>C	CA396768319	FA2H	c.148C>G (p.Leu50Val)
16	g.74774608G=	CA2232982599	FA2H	c.148C= (p.Leu50=)
16	g.74774608G>T	CA396768318	FA2H	c.148C>A (p.Leu50Met)	gnomAD v4
16	g.74774609del	CA2840598182	FA2H	c.147del (p.Leu50CysfsTer?)
16	g.74774609C>A	CA496690846	FA2H	c.147G>T (p.Leu49=)	gnomAD v4
16	g.74774609C>G	CA496690847	FA2H	c.147G>C (p.Leu49=)	gnomAD v4
16	g.74774609C>T	CA496690848	FA2H	c.147G>A (p.Leu49=)	gnomAD v4
16	g.74774610A>C	CA396768321	FA2H	c.146T>G (p.Leu49Arg)
16	g.74774610A>G	CA396768320	FA2H	c.146T>C (p.Leu49Pro)	gnomAD v4
16	g.74774610A>T	CA396768322	FA2H	c.146T>A (p.Leu49Gln)
16	g.74774611G>A	CA496690849	FA2H	c.145C>T (p.Leu49=)	gnomAD v4
16	g.74774611G>C	CA396768323	FA2H	c.145C>G (p.Leu49Val)
16	g.74774611G>T	CA396768324	FA2H	c.145C>A (p.Leu49Met)	gnomAD v4
16	g.74774612C>A	CA396768325	FA2H	c.144G>T (p.Gln48His)	gnomAD v4
16	g.74774612C>G	CA396768326	FA2H	c.144G>C (p.Gln48His)
16	g.74774612C>T	CA496690850	FA2H	c.144G>A (p.Gln48=)	gnomAD v4
16	g.74774613T>A	CA396768327	FA2H	c.143A>T (p.Gln48Leu)
16	g.74774613T>C	CA396768328	FA2H	c.143A>G (p.Gln48Arg)	gnomAD v4
16	g.74774613T>G	CA396768329	FA2H	c.143A>C (p.Gln48Pro)
16	g.74774614del	CA2634290013	FA2H	c.142del (p.Gln48SerfsTer?)	gnomAD v4
16	g.74774614G>A	CA396768330	FA2H	c.142C>T (p.Gln48Ter)	gnomAD v4
16	g.74774614G>C	CA396768331	FA2H	c.142C>G (p.Gln48Glu)	gnomAD v4
16	g.74774614G=	CA2232982600	FA2H	c.142C= (p.Gln48=)
16	g.74774614G>T	CA396768332	FA2H	c.142C>A (p.Gln48Lys)	dbSNP gnomAD v2 gnomAD v4
16	g.74774615C>A	CA396768333	FA2H	c.141G>T (p.Glu47Asp)	gnomAD v4
16	g.74774615C=	CA2232982601	FA2H	c.141G= (p.Glu47=)
16	g.74774615C>G	CA396768334	FA2H	c.141G>C (p.Glu47Asp)
16	g.74774615C>T	CA496690851	FA2H	c.141G>A (p.Glu47=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774616T>A	CA396768337	FA2H	c.140A>T (p.Glu47Val)	gnomAD v4
16	g.74774616T>C	CA396768336	FA2H	c.140A>G (p.Glu47Gly)	gnomAD v4
16	g.74774616T>G	CA396768335	FA2H	c.140A>C (p.Glu47Ala)
16	g.74774617C>A	CA396768338	FA2H	c.139G>T (p.Glu47Ter)	gnomAD v4
16	g.74774617C=	CA2232982602	FA2H	c.139G= (p.Glu47=)
16	g.74774617C>G	CA396768339	FA2H	c.139G>C (p.Glu47Gln)	dbSNP gnomAD v4
16	g.74774617C>T	CA16043088	FA2H	c.139G>A (p.Glu47Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.74774618G>A	CA496690852	FA2H	c.138C>T (p.Gly46=)	gnomAD v4
16	g.74774618G>C	CA496690853	FA2H	c.138C>G (p.Gly46=)	gnomAD v4
16	g.74774618G>T	CA496690854	FA2H	c.138C>A (p.Gly46=)	gnomAD v4
16	g.74774618_74774619delinsGC	CA2232982603	FA2H	c.137_138delinsGC (p.Gly46=)
16	g.74774619C>A	CA396768340	FA2H	c.137G>T (p.Gly46Val)	dbSNP gnomAD v4
16	g.74774619C>G	CA396768341	FA2H	c.137G>C (p.Gly46Ala)
16	g.74774619C>T	CA396768342	FA2H	c.137G>A (p.Gly46Asp)	gnomAD v4
16	g.74774624dup	CA623582354	FA2H	c.137dup (p.Glu47ArgfsTer?)	gnomAD v2 gnomAD v4 COSMIC
16	g.74774623_74774624dup	CA2634290014	FA2H	c.136_137dup (p.Glu47AlafsTer?)	gnomAD v4
16	g.74774624del	CA623582353	FA2H	c.137del (p.Gly46AlafsTer?)	dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.74774620C>A	CA396768343	FA2H	c.136G>T (p.Gly46Cys)	gnomAD v4
16	g.74774620C>G	CA396768344	FA2H	c.136G>C (p.Gly46Arg)
16	g.74774620C>T	CA396768345	FA2H	c.136G>A (p.Gly46Ser)	gnomAD v4
16	g.74774621C>A	CA496690855	FA2H	c.135G>T (p.Gly45=)	gnomAD v4
16	g.74774621C=	CA2232982604	FA2H	c.135G= (p.Gly45=)
16	g.74774621C>G	CA496690856	FA2H	c.135G>C (p.Gly45=)
16	g.74774621C>T	CA496690857	FA2H	c.135G>A (p.Gly45=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774622C>A	CA396768346	FA2H	c.134G>T (p.Gly45Val)	gnomAD v4
16	g.74774622C>G	CA396768347	FA2H	c.134G>C (p.Gly45Ala)	ClinVar
16	g.74774622C>T	CA396768348	FA2H	c.134G>A (p.Gly45Glu)	gnomAD v4
16	g.74774623C>A	CA396768351	FA2H	c.133G>T (p.Gly45Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774623C=	CA2232982605	FA2H	c.133G= (p.Gly45=)
16	g.74774623C>G	CA396768350	FA2H	c.133G>C (p.Gly45Arg)	gnomAD v4
16	g.74774623C>T	CA396768349	FA2H	c.133G>A (p.Gly45Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.74774624C>A	CA496690858	FA2H	c.132G>T (p.Pro44=)	gnomAD v4
16	g.74774624C=	CA2232982606	FA2H	c.132G= (p.Pro44=)
16	g.74774624C>G	CA283769994	FA2H	c.132G>C (p.Pro44=)	dbSNP gnomAD v4
16	g.74774624C>T	CA496690859	FA2H	c.132G>A (p.Pro44=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774625G>A	CA396768352	FA2H	c.131C>T (p.Pro44Leu)
16	g.74774625G>C	CA396768353	FA2H	c.131C>G (p.Pro44Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774625G=	CA2232982607	FA2H	c.131C= (p.Pro44=)
16	g.74774625G>T	CA283770000	FA2H	c.131C>A (p.Pro44Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.74774627del	CA2499223690	FA2H	c.131del (p.Pro44ArgfsTer?)	ClinVar dbSNP gnomAD v4
16	g.74774626G>A	CA396768354	FA2H	c.130C>T (p.Pro44Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.74774626G>C	CA396768355	FA2H	c.130C>G (p.Pro44Ala)	gnomAD v4
16	g.74774626G=	CA2232982608	FA2H	c.130C= (p.Pro44=)
16	g.74774626G>T	CA396768356	FA2H	c.130C>A (p.Pro44Thr)	gnomAD v4
16	g.74774627G>A	CA496690860	FA2H	c.129C>T (p.His43=)	gnomAD v4
16	g.74774627G>C	CA396768357	FA2H	c.129C>G (p.His43Gln)	gnomAD v4
16	g.74774627G>T	CA396768358	FA2H	c.129C>A (p.His43Gln)	gnomAD v4
16	g.74774628T>A	CA396768359	FA2H	c.128A>T (p.His43Leu)	gnomAD v4
16	g.74774628T>C	CA396768360	FA2H	c.128A>G (p.His43Arg)
16	g.74774628T>G	CA396768361	FA2H	c.128A>C (p.His43Pro)	dbSNP gnomAD v3 gnomAD v4
16	g.74774628T=	CA2232982609	FA2H	c.128A= (p.His43=)
16	g.74774629G>A	CA396768362	FA2H	c.127C>T (p.His43Tyr)	gnomAD v4
16	g.74774629G>C	CA396768363	FA2H	c.127C>G (p.His43Asp)	gnomAD v4
16	g.74774629G>T	CA396768364	FA2H	c.127C>A (p.His43Asn)	gnomAD v4
16	g.74774629_74774631delinsGGT	CA2232982610	FA2H	c.125_127delinsACC (p.His42=)
16	g.74774630G>A	CA496690861	FA2H	c.126C>T (p.His42=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774630G>C	CA396768365	FA2H	c.126C>G (p.His42Gln)	ClinVar dbSNP
16	g.74774630G=	CA2232982612	FA2H	c.126C= (p.His42=)
16	g.74774630G>T	CA396768366	FA2H	c.126C>A (p.His42Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.74774631_74774632del	CA2232982611	FA2H	c.125_126del (p.His42ProfsTer?)	dbSNP
16	g.74774631T>A	CA396768367	FA2H	c.125A>T (p.His42Leu)
16	g.74774631T>C	CA396768368	FA2H	c.125A>G (p.His42Arg)	dbSNP gnomAD v4
16	g.74774631T>G	CA396768369	FA2H	c.125A>C (p.His42Pro)
16	g.74774631T=	CA2232982613	FA2H	c.125A= (p.His42=)
16	g.74774632G>A	CA396768370	FA2H	c.124C>T (p.His42Tyr)	gnomAD v4
16	g.74774632G>C	CA396768371	FA2H	c.124C>G (p.His42Asp)
16	g.74774632G>T	CA396768372	FA2H	c.124C>A (p.His42Asn)	gnomAD v4
16	g.74774633C>A	CA496690864	FA2H	c.123G>T (p.Arg41=)	gnomAD v4
16	g.74774633C>G	CA496690863	FA2H	c.123G>C (p.Arg41=)	gnomAD v4
16	g.74774633C>T	CA496690862	FA2H	c.123G>A (p.Arg41=)	gnomAD v4
16	g.74774634C>A	CA283770003	FA2H	c.122G>T (p.Arg41Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774634C=	CA2232982614	FA2H	c.122G= (p.Arg41=)
16	g.74774634C>G	CA396768373	FA2H	c.122G>C (p.Arg41Pro)	gnomAD v4
16	g.74774634C>T	CA8170624	FA2H	c.122G>A (p.Arg41Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774635_74774636del	CA2634290015	FA2H	c.121_122del (p.Arg41AlafsTer?)	gnomAD v4
16	g.74774635G>A	CA396768374	FA2H	c.121C>T (p.Arg41Trp)	gnomAD v4
16	g.74774635G>C	CA396768375	FA2H	c.121C>G (p.Arg41Gly)	dbSNP gnomAD v2 gnomAD v4
16	g.74774635G=	CA2232982615	FA2H	c.121C= (p.Arg41=)
16	g.74774635G>T	CA496690865	FA2H	c.121C>A (p.Arg41=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774637_74774643del	CA2573152640	FA2H	c.115_121del (p.Phe39GlyfsTer?)	ClinVar dbSNP
16	g.74774636C>A	CA496690868	FA2H	c.120G>T (p.Val40=)	gnomAD v4
16	g.74774636C>G	CA496690867	FA2H	c.120G>C (p.Val40=)
16	g.74774636C>T	CA496690866	FA2H	c.120G>A (p.Val40=)	gnomAD v4
16	g.74774637A>C	CA396768378	FA2H	c.119T>G (p.Val40Gly)
16	g.74774637A>G	CA396768377	FA2H	c.119T>C (p.Val40Ala)	gnomAD v4
16	g.74774637A>T	CA396768376	FA2H	c.119T>A (p.Val40Glu)
16	g.74774638C>A	CA396768379	FA2H	c.118G>T (p.Val40Leu)	gnomAD v4
16	g.74774638C=	CA2232982616	FA2H	c.118G= (p.Val40=)
16	g.74774638C>G	CA8170625	FA2H	c.118G>C (p.Val40Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774638C>T	CA396768380	FA2H	c.118G>A (p.Val40Met)	gnomAD v4
16	g.74774639G>A	CA496690869	FA2H	c.117C>T (p.Phe39=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774639G>C	CA396768381	FA2H	c.117C>G (p.Phe39Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774639G=	CA2232982617	FA2H	c.117C= (p.Phe39=)
16	g.74774639G>T	CA052525	FA2H	c.117C>A (p.Phe39Leu)	ClinVar dbSNP gnomAD v4
16	g.74774640A>C	CA396768382	FA2H	c.116T>G (p.Phe39Cys)
16	g.74774640A>G	CA396768383	FA2H	c.116T>C (p.Phe39Ser)	gnomAD v4
16	g.74774640A>T	CA396768384	FA2H	c.116T>A (p.Phe39Tyr)
16	g.74774641A>C	CA396768385	FA2H	c.115T>G (p.Phe39Val)
16	g.74774641A>G	CA396768386	FA2H	c.115T>C (p.Phe39Leu)	gnomAD v4
16	g.74774641A>T	CA396768387	FA2H	c.115T>A (p.Phe39Ile)	gnomAD v4
16	g.74774642G>A	CA8170626	FA2H	c.114C>T (p.Ser38=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774642G>C	CA396768388	FA2H	c.114C>G (p.Ser38Arg)
16	g.74774642G=	CA2232982618	FA2H	c.114C= (p.Ser38=)
16	g.74774642G>T	CA396768389	FA2H	c.114C>A (p.Ser38Arg)	gnomAD v4
16	g.74774642_74774643insAA	CA283770033	FA2H	c.113_114insTT (p.Phe39SerfsTer?)	dbSNP
16	g.74774643C>A	CA396768392	FA2H	c.113G>T (p.Ser38Ile)	gnomAD v4
16	g.74774643C>G	CA396768391	FA2H	c.113G>C (p.Ser38Thr)
16	g.74774643C>T	CA396768390	FA2H	c.113G>A (p.Ser38Asn)	ClinVar dbSNP gnomAD v4
16	g.74774644T>A	CA396768393	FA2H	c.112A>T (p.Ser38Cys)
16	g.74774644T>C	CA396768394	FA2H	c.112A>G (p.Ser38Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774644T>G	CA396768395	FA2H	c.112A>C (p.Ser38Arg)
16	g.74774644T=	CA2232982619	FA2H	c.112A= (p.Ser38=)
16	g.74774645G>A	CA496690870	FA2H	c.111C>T (p.Ser37=)	dbSNP gnomAD v2 gnomAD v4
16	g.74774645G>C	CA496690871	FA2H	c.111C>G (p.Ser37=)
16	g.74774645G=	CA2232982620	FA2H	c.111C= (p.Ser37=)
16	g.74774645G>T	CA496690872	FA2H	c.111C>A (p.Ser37=)	gnomAD v4
16	g.74774646del	CA2838909641	FA2H	c.111del (p.Ser38AlafsTer?)
16	g.74774646G>A	CA396768396	FA2H	c.110C>T (p.Ser37Phe)
16	g.74774646G>C	CA396768397	FA2H	c.110C>G (p.Ser37Cys)
16	g.74774646G>T	CA396768398	FA2H	c.110C>A (p.Ser37Tyr)	gnomAD v4
16	g.74774649_74774650del	CA2634290016	FA2H	c.109_110del (p.Ser37GlnfsTer?)	gnomAD v4
16	g.74774647A>C	CA396768399	FA2H	c.109T>G (p.Ser37Ala)
16	g.74774647A>G	CA396768400	FA2H	c.109T>C (p.Ser37Pro)	gnomAD v4
16	g.74774647A>T	CA396768401	FA2H	c.109T>A (p.Ser37Thr)
16	g.74774648G>A	CA496690873	FA2H	c.108C>T (p.Leu36=)	gnomAD v4
16	g.74774648G>C	CA496690874	FA2H	c.108C>G (p.Leu36=)
16	g.74774648G>T	CA496690875	FA2H	c.108C>A (p.Leu36=)	gnomAD v4
16	g.74774649A=	CA2232982621	FA2H	c.107T= (p.Leu36=)
16	g.74774649A>C	CA396768402	FA2H	c.107T>G (p.Leu36Arg)	dbSNP gnomAD v2 gnomAD v4
16	g.74774649A>G	CA396768403	FA2H	c.107T>C (p.Leu36Pro)	gnomAD v4
16	g.74774649A>T	CA396768404	FA2H	c.107T>A (p.Leu36His)
16	g.74774650G>A	CA396768407	FA2H	c.106C>T (p.Leu36Phe)	gnomAD v4
16	g.74774650G>C	CA396768406	FA2H	c.106C>G (p.Leu36Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.74774650G=	CA2232982622	FA2H	c.106C= (p.Leu36=)
16	g.74774650G>T	CA396768405	FA2H	c.106C>A (p.Leu36Ile)	dbSNP gnomAD v2 gnomAD v4
16	g.74774651G>A	CA496690876	FA2H	c.105C>T (p.Asp35=)	dbSNP gnomAD v3 gnomAD v4
16	g.74774651G>C	CA396768408	FA2H	c.105C>G (p.Asp35Glu)	gnomAD v4
16	g.74774651G=	CA2232982623	FA2H	c.105C= (p.Asp35=)
16	g.74774651G>T	CA396768409	FA2H	c.105C>A (p.Asp35Glu)	gnomAD v4
16	g.74774652T>A	CA396768410	FA2H	c.104A>T (p.Asp35Val)
16	g.74774652T>C	CA396768411	FA2H	c.104A>G (p.Asp35Gly)	gnomAD v4
16	g.74774652T>G	CA396768412	FA2H	c.104A>C (p.Asp35Ala)
16	g.74774653C>A	CA251671	FA2H	c.103G>T (p.Asp35Tyr)	ClinVar dbSNP gnomAD v4
16	g.74774653C=	CA2232982624	FA2H	c.103G= (p.Asp35=)
16	g.74774653C>G	CA396768413	FA2H	c.103G>C (p.Asp35His)
16	g.74774653C>T	CA396768414	FA2H	c.103G>A (p.Asp35Asn)	gnomAD v4
16	g.74774654G>A	CA496690877	FA2H	c.102C>T (p.Tyr34=)	gnomAD v4
16	g.74774654G>C	CA283770055	FA2H	c.102C>G (p.Tyr34Ter)	ClinVar dbSNP gnomAD v4
16	g.74774654G=	CA2232982625	FA2H	c.102C= (p.Tyr34=)
16	g.74774654G>T	CA396768415	FA2H	c.102C>A (p.Tyr34Ter)	gnomAD v4
16	g.74774655T>A	CA396768416	FA2H	c.101A>T (p.Tyr34Phe)
16	g.74774655T>C	CA396768417	FA2H	c.101A>G (p.Tyr34Cys)	dbSNP gnomAD v3 gnomAD v4
16	g.74774655T>G	CA396768418	FA2H	c.101A>C (p.Tyr34Ser)
16	g.74774655T=	CA2232982626	FA2H	c.101A= (p.Tyr34=)
16	g.74774656A>C	CA396768421	FA2H	c.100T>G (p.Tyr34Asp)
16	g.74774656A>G	CA396768419	FA2H	c.100T>C (p.Tyr34His)	gnomAD v4
16	g.74774656A>T	CA396768420	FA2H	c.100T>A (p.Tyr34Asn)
16	g.74774657G>A	CA496690878	FA2H	c.99C>T (p.Leu33=)	gnomAD v4
16	g.74774657G>C	CA496690879	FA2H	c.99C>G (p.Leu33=)
16	g.74774657G>T	CA496690880	FA2H	c.99C>A (p.Leu33=)	gnomAD v4

Number of alleles fetched