Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70175624C>ACA400861124KCNJ2c.585C>A (p.Phe195Leu)
17g.70175624C=CA2272996627KCNJ2c.585C= (p.Phe195=)
17g.70175624C>GCA400861126KCNJ2c.585C>G (p.Phe195Leu)
17g.70175624C>TCA8738746KCNJ2c.585C>T (p.Phe195=)
ClinVar dbSNP ExAC gnomAD v2
17g.70175625A>CCA400861134KCNJ2c.586A>C (p.Ser196Arg)
ClinVar
17g.70175625A>GCA400861129KCNJ2c.586A>G (p.Ser196Gly)
17g.70175625A>TCA400861131KCNJ2c.586A>T (p.Ser196Cys)
17g.70175626G>ACA400861144KCNJ2c.587G>A (p.Ser196Asn)
17g.70175626G>CCA400861145KCNJ2c.587G>C (p.Ser196Thr)
17g.70175626G>TCA400861147KCNJ2c.587G>T (p.Ser196Ile)
17g.70175627T>ACA400861150KCNJ2c.588T>A (p.Ser196Arg)
17g.70175627T>CCA501700604KCNJ2c.588T>C (p.Ser196=)
17g.70175627T>GCA400861152KCNJ2c.588T>G (p.Ser196Arg)
17g.70175628C>ACA400861154KCNJ2c.589C>A (p.His197Asn)
17g.70175628C>GCA400861157KCNJ2c.589C>G (p.His197Asp)
17g.70175628C>TCA400861155KCNJ2c.589C>T (p.His197Tyr)
17g.70175629A>CCA400861159KCNJ2c.590A>C (p.His197Pro)
17g.70175629A>GCA400861161KCNJ2c.590A>G (p.His197Arg)
17g.70175629A>TCA400861162KCNJ2c.590A>T (p.His197Leu)
17g.70175630C>ACA400861164KCNJ2c.591C>A (p.His197Gln)
17g.70175630C=CA2272996628KCNJ2c.591C= (p.His197=)
17g.70175630C>GCA400861165KCNJ2c.591C>G (p.His197Gln)
17g.70175630C>TCA501700616KCNJ2c.591C>T (p.His197=)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175631A>CCA400861167KCNJ2c.592A>C (p.Asn198His)
17g.70175631A>GCA400861169KCNJ2c.592A>G (p.Asn198Asp)
17g.70175631A>TCA400861170KCNJ2c.592A>T (p.Asn198Tyr)
17g.70175632A>CCA400861172KCNJ2c.593A>C (p.Asn198Thr)
17g.70175632A>GCA400861173KCNJ2c.593A>G (p.Asn198Ser)
17g.70175632A>TCA400861174KCNJ2c.593A>T (p.Asn198Ile)
17g.70175633T>ACA400861176KCNJ2c.594T>A (p.Asn198Lys)
17g.70175633T>CCA501700624KCNJ2c.594T>C (p.Asn198=)
17g.70175633T>GCA400861178KCNJ2c.594T>G (p.Asn198Lys)
17g.70175634G>ACA400861180KCNJ2c.595G>A (p.Ala199Thr)
17g.70175634G>CCA400861184KCNJ2c.595G>C (p.Ala199Pro)
17g.70175634G>TCA400861182KCNJ2c.595G>T (p.Ala199Ser)
17g.70175635C>ACA400861186KCNJ2c.596C>A (p.Ala199Asp)
17g.70175635C>GCA400861188KCNJ2c.596C>G (p.Ala199Gly)
17g.70175635C>TCA400861190KCNJ2c.596C>T (p.Ala199Val)
COSMIC
17g.70175636C>ACA501700633KCNJ2c.597C>A (p.Ala199=)
ClinVar dbSNP
17g.70175636C=CA2272996629KCNJ2c.597C= (p.Ala199=)
17g.70175636C>GCA501700634KCNJ2c.597C>G (p.Ala199=)
gnomAD v4
17g.70175636C>TCA8738747KCNJ2c.597C>T (p.Ala199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.70175637G>ACA400861194KCNJ2c.598G>A (p.Val200Met)
ClinVar gnomAD v4
17g.70175637G>CCA400861196KCNJ2c.598G>C (p.Val200Leu)
17g.70175637G>TCA400861198KCNJ2c.598G>T (p.Val200Leu)
17g.70175638T>ACA400861201KCNJ2c.599T>A (p.Val200Glu)
17g.70175638T>CCA400861204KCNJ2c.599T>C (p.Val200Ala)
17g.70175638T>GCA400861203KCNJ2c.599T>G (p.Val200Gly)
17g.70175639G>ACA501700638KCNJ2c.600G>A (p.Val200=)
17g.70175639G>CCA501700639KCNJ2c.600G>C (p.Val200=)

Number of alleles fetched