Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169555200A>CCA343130919F5c.1100T>G (p.Ile367Arg)
c.689T>G (p.Ile230Arg)
gnomAD v4
1g.169555200A>GCA343130918F5c.1100T>C (p.Ile367Thr)
c.689T>C (p.Ile230Thr)
1g.169555200A>TCA343130913F5c.1100T>A (p.Ile367Lys)
c.689T>A (p.Ile230Lys)
1g.169555201T>ACA343130922F5c.1099A>T (p.Ile367Leu)
c.688A>T (p.Ile230Leu)
1g.169555201T>CCA343130926F5c.1099A>G (p.Ile367Val)
c.688A>G (p.Ile230Val)
1g.169555201T>GCA343130940F5c.1099A>C (p.Ile367Leu)
c.688A>C (p.Ile230Leu)
1g.169555202T>ACA421733556F5c.1098A>T (p.Val366=)
c.687A>T (p.Val229=)
1g.169555202T>CCA421733559F5c.1098A>G (p.Val366=)
c.687A>G (p.Val229=)
gnomAD v4
1g.169555202T>GCA421733558F5c.1098A>C (p.Val366=)
c.687A>C (p.Val229=)
1g.169555203A=CA1206149228F5c.1097T= (p.Val366=)
c.686T= (p.Val229=)
1g.169555203A>CCA343130943F5c.1097T>G (p.Val366Gly)
c.686T>G (p.Val229Gly)
dbSNP gnomAD v4
1g.169555203A>GCA343130947F5c.1097T>C (p.Val366Ala)
c.686T>C (p.Val229Ala)
1g.169555203A>TCA343130951F5c.1097T>A (p.Val366Glu)
c.686T>A (p.Val229Glu)
1g.169555204C>ACA343130958F5c.1096G>T (p.Val366Leu)
c.685G>T (p.Val229Leu)
1g.169555204C>GCA343130956F5c.1096G>C (p.Val366Leu)
c.685G>C (p.Val229Leu)
1g.169555204C>TCA343130954F5c.1096G>A (p.Val366Ile)
c.685G>A (p.Val229Ile)
1g.169555205A>CCA421733567F5c.1095T>G (p.Pro365=)
c.684T>G (p.Pro228=)
1g.169555205A>GCA421733569F5c.1095T>C (p.Pro365=)
c.684T>C (p.Pro228=)
gnomAD v4
1g.169555205A>TCA421733571F5c.1095T>A (p.Pro365=)
c.684T>A (p.Pro228=)
1g.169555206G>ACA343130961F5c.1094C>T (p.Pro365Leu)
c.683C>T (p.Pro228Leu)
dbSNP gnomAD v4
1g.169555206G>CCA343130962F5c.1094C>G (p.Pro365Arg)
c.683C>G (p.Pro228Arg)
1g.169555206G=CA1206149232F5c.1094C= (p.Pro365=)
c.683C= (p.Pro228=)
1g.169555206G>TCA343130967F5c.1094C>A (p.Pro365His)
c.683C>A (p.Pro228His)
1g.169555207G>ACA343130974F5c.1093C>T (p.Pro365Ser)
c.682C>T (p.Pro228Ser)
1g.169555207G>CCA343130975F5c.1093C>G (p.Pro365Ala)
c.682C>G (p.Pro228Ala)
1g.169555207G>TCA343130978F5c.1093C>A (p.Pro365Thr)
c.682C>A (p.Pro228Thr)
1g.169555208T>ACA421733577F5c.1092A>T (p.Ala364=)
c.681A>T (p.Ala227=)
1g.169555208T>CCA421733579F5c.1092A>G (p.Ala364=)
c.681A>G (p.Ala227=)
1g.169555208T>GCA421733581F5c.1092A>C (p.Ala364=)
c.681A>C (p.Ala227=)
1g.169555209G>ACA343130982F5c.1091C>T (p.Ala364Val)
c.680C>T (p.Ala227Val)
1g.169555209G>CCA343130987F5c.1091C>G (p.Ala364Gly)
c.680C>G (p.Ala227Gly)
gnomAD v4
1g.169555209G>TCA343130984F5c.1091C>A (p.Ala364Glu)
c.680C>A (p.Ala227Glu)
1g.169555210C>ACA343130996F5c.1090G>T (p.Ala364Ser)
c.679G>T (p.Ala227Ser)
1g.169555210C>GCA343130999F5c.1090G>C (p.Ala364Pro)
c.679G>C (p.Ala227Pro)
1g.169555210C>TCA343131000F5c.1090G>A (p.Ala364Thr)
c.679G>A (p.Ala227Thr)
1g.169555211A=CA1206149234F5c.1089T= (p.Tyr363=)
c.678T= (p.Tyr226=)
1g.169555211A>CCA343131003F5c.1089T>G (p.Tyr363Ter)
c.678T>G (p.Tyr226Ter)
1g.169555211A>GCA421733590F5c.1089T>C (p.Tyr363=)
c.678T>C (p.Tyr226=)
ClinVar dbSNP COSMIC
1g.169555211A>TCA343131005F5c.1089T>A (p.Tyr363Ter)
c.678T>A (p.Tyr226Ter)
1g.169555212T>ACA343131008F5c.1088A>T (p.Tyr363Phe)
c.677A>T (p.Tyr226Phe)
1g.169555212T>CCA343131010F5c.1088A>G (p.Tyr363Cys)
c.677A>G (p.Tyr226Cys)
1g.169555212T>GCA343131012F5c.1088A>C (p.Tyr363Ser)
c.677A>C (p.Tyr226Ser)
1g.169555213A=CA1206149235F5c.1087T= (p.Tyr363=)
c.676T= (p.Tyr226=)
1g.169555213A>CCA343131014F5c.1087T>G (p.Tyr363Asp)
c.676T>G (p.Tyr226Asp)
1g.169555213A>GCA343131017F5c.1087T>C (p.Tyr363His)
c.676T>C (p.Tyr226His)
dbSNP gnomAD v4
1g.169555213A>TCA343131020F5c.1087T>A (p.Tyr363Asn)
c.676T>A (p.Tyr226Asn)
1g.169555214G>ACA1234442F5c.1086C>T (p.Asp362=)
c.675C>T (p.Asp225=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555214G>CCA343131060F5c.1086C>G (p.Asp362Glu)
c.675C>G (p.Asp225Glu)
gnomAD v4
1g.169555214G=CA1142210869F5c.1086C= (p.Asp362=)
c.675C= (p.Asp225=)
1g.169555214G>TCA343131055F5c.1086C>A (p.Asp362Glu)
c.675C>A (p.Asp225Glu)

Number of alleles fetched