| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23431368C>T | CA049158 | MYH7 | c.796+50G>A (p.=) n.902+50G>A | dbSNP ExAC gnomAD |
| 14 | g.23431373G>A | CA049151 | MYH7 | c.796+45C>T (p.=) n.902+45C>T | dbSNP ExAC gnomAD |
| 14 | g.23431373G>T | CA049142 | MYH7 | c.796+45C>A (p.=) n.902+45C>A | dbSNP ExAC gnomAD |
| 14 | g.23431374C>G | CA049135 | MYH7 | c.796+44G>C (p.=) n.902+44G>C | dbSNP ExAC gnomAD |
| 14 | g.23431378G>A | CA613317759 | MYH7 | c.796+40C>T (p.=) n.902+40C>T | gnomAD |
| 14 | g.23431381G>A | CA613317760 | MYH7 | c.796+37C>T (p.=) n.902+37C>T | gnomAD |
| 14 | g.23431383G>A | CA961070315 | MYH7 | c.796+35C>T (p.=) n.902+35C>T | |
| 14 | g.23431388G>A | CA049123 | MYH7 | c.796+30C>T (p.=) n.902+30C>T | dbSNP ExAC gnomAD |
| 14 | g.23431388G>T | CA049117 | MYH7 | c.796+30C>A (p.=) n.902+30C>A | dbSNP ExAC gnomAD |
| 14 | g.23431389G>C | CA613317763 | MYH7 | c.796+29C>G (p.=) n.902+29C>G | gnomAD |
| 14 | g.23431389G>T | CA049108 | MYH7 | c.796+29C>A (p.=) n.902+29C>A | dbSNP ExAC gnomAD |
| 14 | g.23431394G>A | CA049098 | MYH7 | c.796+24C>T (p.=) n.902+24C>T | dbSNP ExAC gnomAD |
| 14 | g.23431395C>A | CA704269171 | MYH7 | c.796+23G>T (p.=) n.902+23G>T | |
| 14 | g.23431395C>T | CA257825784 | MYH7 | c.796+23G>A (p.=) n.902+23G>A | dbSNP |
| 14 | g.23431395_23431411del | CA919376106 | MYH7 | c.796+7_796+23del (p.=) n.902+7_902+23del | dbSNP |
| 14 | g.23431396C>A | CA257825786 | MYH7 | c.796+22G>T (p.=) n.902+22G>T | dbSNP gnomAD |
| 14 | g.23431396C>T | CA613317766 | MYH7 | c.796+22G>A (p.=) n.902+22G>A | gnomAD |
| 14 | g.23431398A>G | CA613317768 | MYH7 | c.796+20T>C (p.=) n.902+20T>C | gnomAD |
| 14 | g.23431400C>A | CA961070322 | MYH7 | c.796+18G>T (p.=) n.902+18G>T | |
| 14 | g.23431402G>T | CA049086 | MYH7 | c.796+16C>A (p.=) n.902+16C>A | dbSNP ExAC gnomAD |
| 14 | g.23431411C>T | CA016839 | MYH7 | c.796+7G>A (p.=) n.902+7G>A | ClinVar dbSNP ExAC gnomAD |
| 14 | g.23431415C>G | CA257825799 | MYH7 | c.796+3G>C (p.=) n.902+3G>C | dbSNP |
| 14 | g.23431416A>C | CA389052032 | MYH7 | c.796+2T>G (p.=) n.902+2T>G | |
| 14 | g.23431416A>G | CA389052033 | MYH7 | c.796+2T>C (p.=) n.902+2T>C | |
| 14 | g.23431416A>T | CA389052031 | MYH7 | c.796+2T>A (p.=) n.902+2T>A | |
| 14 | g.23431417C>A | CA389052034 | MYH7 | c.796+1G>T (p.=) n.902+1G>T | |
| 14 | g.23431417C>G | CA389052035 | MYH7 | c.796+1G>C (p.=) n.902+1G>C | |
| 14 | g.23431417C>T | CA257825801 | MYH7 | c.796+1G>A (p.=) 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 |
| 14 | g.23431420G>C | CA389052039 | MYH7 | c.794C>G (p.Thr265Ser) n.900C>G | |
| 14 | g.23431420G>T | CA10581179 | MYH7 | c.794C>A (p.Thr265Asn) n.900C>A | ClinVar dbSNP |
| 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.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 | COSMIC |
| 14 | g.23431425T>A | CA485767208 | MYH7 | c.789A>T (p.Ile263=) n.895A>T |