Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133256050_133256085delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGATCA200765404ABOc.646_681delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe216Ile)
n.657_692delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
c.643_678delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe215Ile)
dbSNP
9g.133256085A>CCA375685781ABOc.646T>G (p.Phe216Val)
n.657T>G
c.643T>G (p.Phe215Val)
9g.133256085A>GCA375685782ABOc.646T>C (p.Phe216Leu)
n.657T>C
c.643T>C (p.Phe215Leu)
9g.133256085A>TCA5305779ABOc.646T>A (p.Phe216Ile)
n.657T>A
c.643T>A (p.Phe215Ile)
ClinVar dbSNP ExAC gnomAD
9g.133256086C>ACA5305780ABOc.645G>T (p.Glu215Asp)
n.656G>T
c.642G>T (p.Glu214Asp)
dbSNP ExAC gnomAD
9g.133256086C>GCA375685783ABOc.645G>C (p.Glu215Asp)
n.656G>C
c.642G>C (p.Glu214Asp)
9g.133256086C>TCA467853000ABOc.645G>A (p.Glu215=)
n.656G>A
c.642G>A (p.Glu214=)
9g.133256087T>ACA375685785ABOc.644A>T (p.Glu215Val)
n.655A>T
c.641A>T (p.Glu214Val)
9g.133256087T>CCA375685788ABOc.644A>G (p.Glu215Gly)
n.655A>G
c.641A>G (p.Glu214Gly)
9g.133256087T>GCA375685789ABOc.644A>C (p.Glu215Ala)
n.655A>C
c.641A>C (p.Glu214Ala)
9g.133256088C>ACA375685792ABOc.643G>T (p.Glu215Ter)
n.654G>T
c.640G>T (p.Glu214Ter)
9g.133256088C>GCA375685793ABOc.643G>C (p.Glu215Gln)
n.654G>C
c.640G>C (p.Glu214Gln)
9g.133256088C>TCA375685794ABOc.643G>A (p.Glu215Lys)
n.654G>A
c.640G>A (p.Glu214Lys)
COSMIC
9g.133256089C>ACA375685796ABOc.642G>T (p.Met214Ile)
n.653G>T
c.639G>T (p.Met213Ile)
9g.133256089C>GCA375685798ABOc.642G>C (p.Met214Ile)
n.653G>C
c.639G>C (p.Met213Ile)
9g.133256089C>TCA5305781ABOc.642G>A (p.Met214Ile)
n.653G>A
c.639G>A (p.Met213Ile)
dbSNP ExAC gnomAD
9g.133256090A>CCA375685804ABOc.641T>G (p.Met214Arg)
n.652T>G
c.638T>G (p.Met213Arg)
9g.133256090A>GCA375685808ABOc.641T>C (p.Met214Thr)
n.652T>C
c.638T>C (p.Met213Thr)
gnomAD
9g.133256090A>TCA375685806ABOc.641T>A (p.Met214Lys)
n.652T>A
c.638T>A (p.Met213Lys)
9g.133256091T>ACA375685811ABOc.640A>T (p.Met214Leu)
n.651A>T
c.637A>T (p.Met213Leu)
gnomAD
9g.133256091T>CCA200765434ABOc.640A>G (p.Met214Val)
n.651A>G
c.637A>G (p.Met213Val)
dbSNP gnomAD
9g.133256091T>GCA375685814ABOc.640A>C (p.Met214Leu)
n.651A>C
c.637A>C (p.Met213Leu)
9g.133256092G>ACA467853005ABOc.639C>T (p.Asp213=)
n.650C>T
c.636C>T (p.Asp212=)
9g.133256092G>CCA375685827ABOc.639C>G (p.Asp213Glu)
n.650C>G
c.636C>G (p.Asp212Glu)
9g.133256092G>TCA375685832ABOc.639C>A (p.Asp213Glu)
n.650C>A
c.636C>A (p.Asp212Glu)
9g.133256099_133256104dupCA5305782ABOc.634_639dup (p.Asp213_Met214insValAsp)
n.645_650dup
c.631_636dup (p.Asp212_Met213insValAsp)
dbSNP ExAC gnomAD
9g.133256092_133256097delCA591377530ABOc.627_632del (p.Val212_Asp213del)
n.638_643del
c.624_629del (p.Val211_Asp212del)
dbSNP gnomAD
9g.133256093T>ACA375685835ABOc.638A>T (p.Asp213Val)
n.649A>T
c.635A>T (p.Asp212Val)
9g.133256093T>CCA375685836ABOc.638A>G (p.Asp213Gly)
n.649A>G
c.635A>G (p.Asp212Gly)
9g.133256093T>GCA375685840ABOc.638A>C (p.Asp213Ala)
n.649A>C
c.635A>C (p.Asp212Ala)
9g.133256094C>ACA375685843ABOc.637G>T (p.Asp213Tyr)
n.648G>T
c.634G>T (p.Asp212Tyr)
9g.133256094C>GCA375685847ABOc.637G>C (p.Asp213His)
n.648G>C
c.634G>C (p.Asp212His)
9g.133256094C>TCA375685849ABOc.637G>A (p.Asp213Asn)
n.648G>A
c.634G>A (p.Asp212Asn)
9g.133256095C>ACA467853013ABOc.636G>T (p.Val212=)
n.647G>T
c.633G>T (p.Val211=)
9g.133256095C>GCA467853012ABOc.636G>C (p.Val212=)
n.647G>C
c.633G>C (p.Val211=)
9g.133256095C>TCA467853011ABOc.636G>A (p.Val212=)
n.647G>A
c.633G>A (p.Val211=)
9g.133256096A>CCA375685853ABOc.635T>G (p.Val212Gly)
n.646T>G
c.632T>G (p.Val211Gly)
9g.133256096A>GCA5305783ABOc.635T>C (p.Val212Ala)
n.646T>C
c.632T>C (p.Val211Ala)
dbSNP ExAC gnomAD
9g.133256096A>TCA375685852ABOc.635T>A (p.Val212Glu)
n.646T>A
c.632T>A (p.Val211Glu)
9g.133256097C>ACA375685855ABOc.634G>T (p.Val212Leu)
n.645G>T
c.631G>T (p.Val211Leu)
9g.133256097C>GCA375685858ABOc.634G>C (p.Val212Leu)
n.645G>C
c.631G>C (p.Val211Leu)
9g.133256097C>TCA5305784ABOc.634G>A (p.Val212Met)
n.645G>A
c.631G>A (p.Val211Met)
dbSNP ExAC gnomAD
9g.133256098delCA1129715366ABOc.633del (p.Asp211GlufsTer15)
n.644del
c.630del (p.Asp210GlufsTer15)
9g.133256098G>ACA467853015ABOc.633C>T (p.Asp211=)
n.644C>T
c.630C>T (p.Asp210=)
9g.133256098G>CCA375685864ABOc.633C>G (p.Asp211Glu)
n.644C>G
c.630C>G (p.Asp210Glu)
9g.133256098G>TCA375685865ABOc.633C>A (p.Asp211Glu)
n.644C>A
c.630C>A (p.Asp210Glu)
9g.133256099T>ACA375685867ABOc.632A>T (p.Asp211Val)
n.643A>T
c.629A>T (p.Asp210Val)
9g.133256099T>CCA375685868ABOc.632A>G (p.Asp211Gly)
n.643A>G
c.629A>G (p.Asp210Gly)
gnomAD
9g.133256099T>GCA375685869ABOc.632A>C (p.Asp211Ala)
n.643A>C
c.629A>C (p.Asp210Ala)
9g.133256100C>ACA375685871ABOc.631G>T (p.Asp211Tyr)
n.642G>T
c.628G>T (p.Asp210Tyr)

Number of alleles fetched