| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23431394_23431411delinsGCCTAGCAGATTCATGGC | CA2123451306 | MYH7 | c.796+7_796+24delinsGCCATGAATCTGCTAGGC (n.796+7_796+24delinsGCCATGAATCTGCTAGGC) n.902+7_902+24delinsGCCATGAATCTGCTAGGC | |
| 14 | g.23431395_23431411del | CA919376106 | MYH7 | c.796+7_796+23del (n.796+7_796+23del) n.902+7_902+23del | dbSNP gnomAD v4 |
| 14 | g.23431411C= | CA2123451350 | MYH7 | c.796+7G= (n.796+7G=) n.902+7G= | |
| 14 | g.23431411C>T | CA016839 | MYH7 | c.796+7G>A (n.796+7G>A) n.902+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431414T>A | CA2123451370 | MYH7 | c.796+4A>T (n.796+4A>T) n.902+4A>T | dbSNP |
| 14 | g.23431414T>C | CA1139663379 | MYH7 | c.796+4A>G (n.796+4A>G) n.902+4A>G | ClinVar dbSNP |
| 14 | g.23431414T= | CA2123451367 | MYH7 | c.796+4A= (n.796+4A=) n.902+4A= | |
| 14 | g.23431415C= | CA2123451386 | MYH7 | c.796+3G= (n.796+3G=) n.902+3G= | |
| 14 | g.23431415C>G | CA257825799 | MYH7 | c.796+3G>C (n.796+3G>C) n.902+3G>C | dbSNP |
| 14 | g.23431415C>T | CA2123451394 | MYH7 | c.796+3G>A (n.796+3G>A) n.902+3G>A | dbSNP gnomAD v4 |
| 14 | g.23431416A>C | CA389052032 | MYH7 | c.796+2T>G (n.796+2T>G) n.902+2T>G | |
| 14 | g.23431416A>G | CA389052033 | MYH7 | c.796+2T>C (n.796+2T>C) n.902+2T>C | |
| 14 | g.23431416A>T | CA389052031 | MYH7 | c.796+2T>A (n.796+2T>A) n.902+2T>A | |
| 14 | g.23431417C>A | CA389052034 | MYH7 | c.796+1G>T (n.796+1G>T) n.902+1G>T | |
| 14 | g.23431417C= | CA2123451399 | MYH7 | c.796+1G= (n.796+1G=) n.902+1G= | |
| 14 | g.23431417C>G | CA389052035 | MYH7 | c.796+1G>C (n.796+1G>C) n.902+1G>C | |
| 14 | g.23431417C>T | CA257825801 | MYH7 | c.796+1G>A (n.796+1G>A) n.902+1G>A | dbSNP |
| 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 |