Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23431418A>C | CA389052036 | MYH7 | c.796T>G (p.Tyr266Asp) n.902T>G | |
14 | g.23431418A>G | CA389052037 | MYH7 | c.796T>C (p.Tyr266His) n.902T>C | |
14 | g.23431418A>T | CA389052038 | MYH7 | c.796T>A (p.Tyr266Asn) n.902T>A | |
14 | g.23431419G>A | CA485767195 | MYH7 | c.795C>T (p.Thr265=) n.901C>T | |
14 | g.23431419G>C | CA485767193 | MYH7 | c.795C>G (p.Thr265=) n.901C>G | |
14 | g.23431419G>T | CA485767194 | MYH7 | c.795C>A (p.Thr265=) n.901C>A | |
14 | g.23431420G>A | CA389052040 | MYH7 | c.794C>T (p.Thr265Ile) n.900C>T | ClinVar dbSNP |
14 | g.23431420G>C | CA389052039 | MYH7 | c.794C>G (p.Thr265Ser) n.900C>G | |
14 | g.23431420G= | CA2123451405 | MYH7 | c.794C= (p.Thr265=) n.900C= | |
14 | g.23431420G>T | CA10581179 | MYH7 | c.794C>A (p.Thr265Asn) n.900C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23431421T>A | CA016835 | MYH7 | c.793A>T (p.Thr265Ser) n.899A>T | ClinVar dbSNP |
14 | g.23431421T>C | CA389052041 | MYH7 | c.793A>G (p.Thr265Ala) n.899A>G | |
14 | g.23431421T>G | CA389052042 | MYH7 | c.793A>C (p.Thr265Pro) n.899A>C | |
14 | g.23431421T= | CA2123451413 | MYH7 | c.793A= (p.Thr265=) n.899A= | |
14 | g.23431424_23431425del | CA2575486794 | MYH7 | c.792_793del (p.Glu264AspfsTer28) n.898_899del | |
14 | g.23431422C>A | CA389052043 | MYH7 | c.792G>T (p.Glu264Asp) n.898G>T | |
14 | g.23431422C>G | CA389052044 | MYH7 | c.792G>C (p.Glu264Asp) n.898G>C | |
14 | g.23431422C>T | CA485767201 | MYH7 | c.792G>A (p.Glu264=) n.898G>A | |
14 | g.23431423T>A | CA389052045 | MYH7 | c.791A>T (p.Glu264Val) n.897A>T | |
14 | g.23431423T>C | CA389052047 | MYH7 | c.791A>G (p.Glu264Gly) n.897A>G | |
14 | g.23431423T>G | CA389052046 | MYH7 | c.791A>C (p.Glu264Ala) n.897A>C | |
14 | g.23431424C>A | CA389052048 | MYH7 | c.790G>T (p.Glu264Ter) n.896G>T | |
14 | g.23431424C>G | CA389052049 | MYH7 | c.790G>C (p.Glu264Gln) n.896G>C | |
14 | g.23431424C>T | CA389052050 | MYH7 | c.790G>A (p.Glu264Lys) n.896G>A | ClinVar COSMIC |
14 | g.23431424_23431426delinsCTA | CA2123451420 | MYH7 | c.788_790delinsTAG (p.Ile263=) n.894_896delinsTAG | |
14 | g.23431425T>A | CA485767208 | MYH7 | c.789A>T (p.Ile263=) n.895A>T | |
14 | g.23431425T>C | CA016828 | MYH7 | c.789A>G (p.Ile263Met) n.895A>G | ClinVar dbSNP |
14 | g.23431425T>G | CA485767211 | MYH7 | c.789A>C (p.Ile263=) n.895A>C | |
14 | g.23431425T= | CA2123451428 | MYH7 | c.789A= (p.Ile263=) n.895A= | |
14 | g.23431426_23431427del | CA2123451427 | MYH7 | c.788_789del (p.Ile263ArgfsTer29) n.894_895del | ClinVar dbSNP gnomAD v4 |
14 | g.23431426A= | CA2123451436 | MYH7 | c.788T= (p.Ile263=) n.894T= | |
14 | g.23431426A>C | CA389052051 | MYH7 | c.788T>G (p.Ile263Arg) n.894T>G | |
14 | g.23431426A>G | CA016824 | MYH7 | c.788T>C (p.Ile263Thr) n.894T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431426A>T | CA389052052 | MYH7 | c.788T>A (p.Ile263Lys) n.894T>A | |
14 | g.23431427T>A | CA389052053 | MYH7 | c.787A>T (p.Ile263Leu) n.893A>T | |
14 | g.23431427T>C | CA389052054 | MYH7 | c.787A>G (p.Ile263Val) n.893A>G | |
14 | g.23431427T>G | CA389052055 | MYH7 | c.787A>C (p.Ile263Leu) n.893A>C | ClinVar dbSNP |
14 | g.23431428G>A | CA485767220 | MYH7 | c.786C>T (p.Asp262=) n.892C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23431428G>C | CA389052056 | MYH7 | c.786C>G (p.Asp262Glu) n.892C>G | |
14 | g.23431428G= | CA2123451447 | MYH7 | c.786C= (p.Asp262=) n.892C= | |
14 | g.23431428G>T | CA389052057 | MYH7 | c.786C>A (p.Asp262Glu) n.892C>A | |
14 | g.23431429T>A | CA389052058 | MYH7 | c.785A>T (p.Asp262Val) n.891A>T | |
14 | g.23431429T>C | CA389052060 | MYH7 | c.785A>G (p.Asp262Gly) n.891A>G | COSMIC |
14 | g.23431429T>G | CA389052059 | MYH7 | c.785A>C (p.Asp262Ala) n.891A>C | |
14 | g.23431430C>A | CA389052061 | MYH7 | c.784G>T (p.Asp262Tyr) n.890G>T | |
14 | g.23431430C= | CA2123451452 | MYH7 | c.784G= (p.Asp262=) n.890G= | |
14 | g.23431430C>G | CA389052063 | MYH7 | c.784G>C (p.Asp262His) n.890G>C | |
14 | g.23431430C>T | CA389052062 | MYH7 | c.784G>A (p.Asp262Asn) n.890G>A | ClinVar dbSNP |
14 | g.23431431T>A | CA485767226 | MYH7 | c.783A>T (p.Ala261=) n.889A>T | |
14 | g.23431431T>C | CA485767227 | MYH7 | c.783A>G (p.Ala261=) n.889A>G |