Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175151C>ACA400859888KCNJ2c.112C>A (p.His38Asn)
17g.70175151C=CA2272996447KCNJ2c.112C= (p.His38=)
17g.70175151C>GCA400859889KCNJ2c.112C>G (p.His38Asp)
17g.70175151C>TCA400859890KCNJ2c.112C>T (p.His38Tyr)
dbSNP gnomAD v3 gnomAD v4
17g.70175152A>CCA400859891KCNJ2c.113A>C (p.His38Pro)
17g.70175152A>GCA400859893KCNJ2c.113A>G (p.His38Arg)
17g.70175152A>TCA400859892KCNJ2c.113A>T (p.His38Leu)
17g.70175153C>ACA400859894KCNJ2c.114C>A (p.His38Gln)
17g.70175153C>GCA400859895KCNJ2c.114C>G (p.His38Gln)
17g.70175153C>TCA501700227KCNJ2c.114C>T (p.His38=)
ClinVar gnomAD v4
17g.70175154A=CA2272996448KCNJ2c.115A= (p.Thr39=)
17g.70175154A>CCA400859896KCNJ2c.115A>C (p.Thr39Pro)
dbSNP
17g.70175154A>GCA400859897KCNJ2c.115A>G (p.Thr39Ala)
gnomAD v4
17g.70175154A>TCA400859898KCNJ2c.115A>T (p.Thr39Ser)
17g.70175155C>ACA400859899KCNJ2c.116C>A (p.Thr39Asn)
17g.70175155C=CA2272996449KCNJ2c.116C= (p.Thr39=)
17g.70175155C>GCA400859900KCNJ2c.116C>G (p.Thr39Ser)
17g.70175155C>TCA400859901KCNJ2c.116C>T (p.Thr39Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175156C>ACA501700231KCNJ2c.117C>A (p.Thr39=)
17g.70175156C>GCA501700234KCNJ2c.117C>G (p.Thr39=)
17g.70175156C>TCA501700237KCNJ2c.117C>T (p.Thr39=)
17g.70175157C>ACA501700238KCNJ2c.118C>A (p.Arg40=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175157C=CA2272996450KCNJ2c.118C= (p.Arg40=)
17g.70175157C>GCA400859902KCNJ2c.118C>G (p.Arg40Gly)
17g.70175157C>TCA302012KCNJ2c.118C>T (p.Arg40Ter)
ClinVar dbSNP
17g.70175158G>ACA8738692KCNJ2c.119G>A (p.Arg40Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175158G>CCA16615669KCNJ2c.119G>C (p.Arg40Pro)
ClinVar dbSNP
17g.70175158G=CA2272996451KCNJ2c.119G= (p.Arg40=)
17g.70175158G>TCA400859903KCNJ2c.119G>T (p.Arg40Leu)
ClinVar gnomAD v4
17g.70175158_70175161delinsGACACA2272996452KCNJ2c.119_122delinsGACA (p.Arg40=)
17g.70175159A=CA2272996453KCNJ2c.120A= (p.Arg40=)
17g.70175159A>CCA501700242KCNJ2c.120A>C (p.Arg40=)
17g.70175159A>GCA501700244KCNJ2c.120A>G (p.Arg40=)
dbSNP gnomAD v4
17g.70175159A>TCA501700245KCNJ2c.120A>T (p.Arg40=)
17g.70175162_70175164delCA627589830KCNJ2c.123_125del (p.Gln42del)
dbSNP gnomAD v2 gnomAD v4
17g.70175160C>ACA400859904KCNJ2c.121C>A (p.Gln41Lys)
gnomAD v4
17g.70175160C>GCA400859906KCNJ2c.121C>G (p.Gln41Glu)
17g.70175160C>TCA400859905KCNJ2c.121C>T (p.Gln41Ter)
COSMIC
17g.70175161A=CA2272996454KCNJ2c.122A= (p.Gln41=)
17g.70175161A>CCA400859907KCNJ2c.122A>C (p.Gln41Pro)
17g.70175161A>GCA400859908KCNJ2c.122A>G (p.Gln41Arg)
dbSNP gnomAD v4
17g.70175161A>TCA400859909KCNJ2c.122A>T (p.Gln41Leu)
17g.70175162A>CCA400859910KCNJ2c.123A>C (p.Gln41His)
17g.70175162A>GCA501700250KCNJ2c.123A>G (p.Gln41=)
17g.70175162A>TCA400859911KCNJ2c.123A>T (p.Gln41His)
17g.70175163C>ACA400859912KCNJ2c.124C>A (p.Gln42Lys)
17g.70175163C>GCA400859913KCNJ2c.124C>G (p.Gln42Glu)
17g.70175163C>TCA400859914KCNJ2c.124C>T (p.Gln42Ter)
17g.70175164A>CCA400859915KCNJ2c.125A>C (p.Gln42Pro)

Number of alleles fetched