| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112093693_112095870del | CA913190226 | SDHD | c.314+4682_314+6859del (n.314+4682_314+6859del) n.319+4682_319+6859del c.145+4682_145+6859del | ClinVar |
| 11 | g.112094804_112094970delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | CA2000553729 | SDHD | c.*54-1_*219delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA (n.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA) c.315-1_480delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.198-1_363delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.319+5793_319+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.*13-1_*178delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.170-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.308-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.359-1_524delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.145+5793_145+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.453-1_618delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.404-1_569delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | |
| 11 | g.112094805_112094970del | CA645509538 | SDHD | c.*54_*219del (n.*54_*219del) c.314+5794_314+5959del (n.314+5794_314+5959del) c.315_480del (p.Trp105CysfsTer8) c.198_363del (p.Trp66CysfsTer8) n.319+5794_319+5959del c.*13_*178del (n.*13_*178del) c.170_*77del (n.[c.170_*77del;Trp57SerfsTer30]) c.308_*77del (n.[c.308_*77del;Gly103AlafsTer30]) c.359_524del c.145+5794_145+5959del n.453_618del n.404_569del | ClinVar dbSNP |
| 11 | g.112094884del | CA16613229 | SDHD | c.*133del (n.*133del) c.314+5873del (n.314+5873del) c.394del (p.Ser132GlnfsTer3) c.277del (p.Ser93GlnfsTer3) n.319+5873del c.*92del (n.*92del) c.249del (p.Gln84SerfsTer?) c.387del (p.Gln130SerfsTer?) c.438del c.145+5873del n.532del n.483del | ClinVar dbSNP |
| 11 | g.112094884T>A | CA382619181 | SDHD | c.*133T>A (n.*133T>A) c.314+5873T>A (n.314+5873T>A) c.394T>A (p.Ser132Thr) c.277T>A (p.Ser93Thr) n.319+5873T>A c.*92T>A (n.*92T>A) c.249T>A (p.Phe83Leu) c.387T>A (p.Phe129Leu) c.438T>A c.145+5873T>A n.532T>A n.483T>A | |
| 11 | g.112094884T>C | CA382619183 | SDHD | c.*133T>C (n.*133T>C) c.314+5873T>C (n.314+5873T>C) c.394T>C (p.Ser132Pro) c.277T>C (p.Ser93Pro) n.319+5873T>C c.*92T>C (n.*92T>C) c.249T>C (p.Phe83=) c.387T>C (p.Phe129=) c.438T>C c.145+5873T>C n.532T>C n.483T>C | |
| 11 | g.112094884T>G | CA382619186 | SDHD | c.*133T>G (n.*133T>G) c.314+5873T>G (n.314+5873T>G) c.394T>G (p.Ser132Ala) c.277T>G (p.Ser93Ala) n.319+5873T>G c.*92T>G (n.*92T>G) c.249T>G (p.Phe83Leu) c.387T>G (p.Phe129Leu) c.438T>G c.145+5873T>G n.532T>G n.483T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094885C>A | CA382619188 | SDHD | c.*134C>A (n.*134C>A) c.314+5874C>A (n.314+5874C>A) c.395C>A (p.Ser132Ter) c.278C>A (p.Ser93Ter) n.319+5874C>A c.*93C>A (n.*93C>A) c.250C>A (p.Gln84Lys) c.388C>A (p.Gln130Lys) c.439C>A c.145+5874C>A n.533C>A n.484C>A | |
| 11 | g.112094885C>G | CA382619191 | SDHD | c.*134C>G (n.*134C>G) c.314+5874C>G (n.314+5874C>G) c.395C>G (p.Ser132Ter) c.278C>G (p.Ser93Ter) n.319+5874C>G c.*93C>G (n.*93C>G) c.250C>G (p.Gln84Glu) c.388C>G (p.Gln130Glu) c.439C>G c.145+5874C>G n.533C>G n.484C>G | ClinVar |
| 11 | g.112094885C>T | CA382619195 | SDHD | c.*134C>T (n.*134C>T) c.314+5874C>T (n.314+5874C>T) c.395C>T (p.Ser132Leu) c.278C>T (p.Ser93Leu) n.319+5874C>T c.*93C>T (n.*93C>T) c.250C>T (p.Gln84Ter) c.388C>T (p.Gln130Ter) c.439C>T c.145+5874C>T n.533C>T n.484C>T | ClinVar gnomAD v4 |
| 11 | g.112094886A>C | CA382619197 | SDHD | c.*135A>C (n.*135A>C) c.314+5875A>C (n.314+5875A>C) c.396A>C (p.Ser132=) c.279A>C (p.Ser93=) n.319+5875A>C c.*94A>C (n.*94A>C) c.251A>C (p.Gln84Pro) c.389A>C (p.Gln130Pro) c.440A>C c.145+5875A>C n.534A>C n.485A>C | ClinVar dbSNP |
| 11 | g.112094886A>G | CA382619201 | SDHD | c.*135A>G (n.*135A>G) c.314+5875A>G (n.314+5875A>G) c.396A>G (p.Ser132=) c.279A>G (p.Ser93=) n.319+5875A>G c.*94A>G (n.*94A>G) c.251A>G (p.Gln84Arg) c.389A>G (p.Gln130Arg) c.440A>G c.145+5875A>G n.534A>G n.485A>G | |
| 11 | g.112094886A>T | CA382619199 | SDHD | c.*135A>T (n.*135A>T) c.314+5875A>T (n.314+5875A>T) c.396A>T (p.Ser132=) c.279A>T (p.Ser93=) n.319+5875A>T c.*94A>T (n.*94A>T) c.251A>T (p.Gln84Leu) c.389A>T (p.Gln130Leu) c.440A>T c.145+5875A>T n.534A>T n.485A>T | ClinVar |
| 11 | g.112094887G>A | CA382619205 | SDHD | c.*136G>A (n.*136G>A) c.314+5876G>A (n.314+5876G>A) c.397G>A (p.Ala133Thr) c.280G>A (p.Ala94Thr) n.319+5876G>A c.*95G>A (n.*95G>A) c.252G>A (p.Gln84=) c.390G>A (p.Gln130=) c.441G>A c.145+5876G>A n.535G>A n.486G>A | ClinVar dbSNP |
| 11 | g.112094887G>C | CA16613234 | SDHD | c.*136G>C (n.*136G>C) c.314+5876G>C (n.314+5876G>C) c.397G>C (p.Ala133Pro) c.280G>C (p.Ala94Pro) n.319+5876G>C c.*95G>C (n.*95G>C) c.252G>C (p.Gln84His) c.390G>C (p.Gln130His) c.441G>C c.145+5876G>C n.535G>C n.486G>C | ClinVar dbSNP |
| 11 | g.112094887G= | CA2000554005 | SDHD | c.*136G= (n.*136G=) c.314+5876G= (n.314+5876G=) c.397G= (p.Ala133=) c.280G= (p.Ala94=) n.319+5876G= c.*95G= (n.*95G=) c.252G= (p.Gln84=) c.390G= (p.Gln130=) c.441G= c.145+5876G= n.535G= n.486G= | |
| 11 | g.112094887G>T | CA382619208 | SDHD | c.*136G>T (n.*136G>T) c.314+5876G>T (n.314+5876G>T) c.397G>T (p.Ala133Ser) c.280G>T (p.Ala94Ser) n.319+5876G>T c.*95G>T (n.*95G>T) c.252G>T (p.Gln84His) c.390G>T (p.Gln130His) c.441G>T c.145+5876G>T n.535G>T n.486G>T | |
| 11 | g.112094888C>A | CA071351 | SDHD | c.*137C>A (n.*137C>A) c.314+5877C>A (n.314+5877C>A) c.398C>A (p.Ala133Asp) c.281C>A (p.Ala94Asp) n.319+5877C>A c.*96C>A (n.*96C>A) c.253C>A (p.Leu85Ile) c.391C>A (p.Leu131Ile) c.442C>A c.145+5877C>A n.536C>A n.487C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112094888C= | CA2000554006 | SDHD | c.*137C= (n.*137C=) c.314+5877C= (n.314+5877C=) c.398C= (p.Ala133=) c.281C= (p.Ala94=) n.319+5877C= c.*96C= (n.*96C=) c.253C= (p.Leu85=) c.391C= (p.Leu131=) c.442C= c.145+5877C= n.536C= n.487C= | |
| 11 | g.112094888C>G | CA228555691 | SDHD | c.*137C>G (n.*137C>G) c.314+5877C>G (n.314+5877C>G) c.398C>G (p.Ala133Gly) c.281C>G (p.Ala94Gly) n.319+5877C>G c.*96C>G (n.*96C>G) c.253C>G (p.Leu85Val) c.391C>G (p.Leu131Val) c.442C>G c.145+5877C>G n.536C>G n.487C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094888C>T | CA382619217 | SDHD | c.*137C>T (n.*137C>T) c.314+5877C>T (n.314+5877C>T) c.398C>T (p.Ala133Val) c.281C>T (p.Ala94Val) n.319+5877C>T c.*96C>T (n.*96C>T) c.253C>T (p.Leu85Phe) c.391C>T (p.Leu131Phe) c.442C>T c.145+5877C>T n.536C>T n.487C>T | |
| 11 | g.112094889T>A | CA382619221 | SDHD | c.*138T>A (n.*138T>A) c.314+5878T>A (n.314+5878T>A) c.399T>A (p.Ala133=) c.282T>A (p.Ala94=) n.319+5878T>A c.*97T>A (n.*97T>A) c.254T>A (p.Leu85His) c.392T>A (p.Leu131His) c.443T>A c.145+5878T>A n.537T>A n.488T>A | |
| 11 | g.112094889T>C | CA382619223 | SDHD | c.*138T>C (n.*138T>C) c.314+5878T>C (n.314+5878T>C) c.399T>C (p.Ala133=) c.282T>C (p.Ala94=) n.319+5878T>C c.*97T>C (n.*97T>C) c.254T>C (p.Leu85Pro) c.392T>C (p.Leu131Pro) c.443T>C c.145+5878T>C n.537T>C n.488T>C | |
| 11 | g.112094889T>G | CA382619224 | SDHD | c.*138T>G (n.*138T>G) c.314+5878T>G (n.314+5878T>G) c.399T>G (p.Ala133=) c.282T>G (p.Ala94=) n.319+5878T>G c.*97T>G (n.*97T>G) c.254T>G (p.Leu85Arg) c.392T>G (p.Leu131Arg) c.443T>G c.145+5878T>G n.537T>G n.488T>G | |
| 11 | g.112094890T>A | CA382619226 | SDHD | c.*139T>A (n.*139T>A) c.314+5879T>A (n.314+5879T>A) c.400T>A (p.Leu134Ile) c.283T>A (p.Leu95Ile) n.319+5879T>A c.*98T>A (n.*98T>A) c.255T>A (p.Leu85=) c.393T>A (p.Leu131=) c.444T>A c.145+5879T>A n.538T>A n.489T>A | |
| 11 | g.112094890T>C | CA476790952 | SDHD | c.*139T>C (n.*139T>C) c.314+5879T>C (n.314+5879T>C) c.400T>C (p.Leu134=) c.283T>C (p.Leu95=) n.319+5879T>C c.*98T>C (n.*98T>C) c.255T>C (p.Leu85=) c.393T>C (p.Leu131=) c.444T>C c.145+5879T>C n.538T>C n.489T>C | |
| 11 | g.112094890T>G | CA016714 | SDHD | c.*139T>G (n.*139T>G) c.314+5879T>G (n.314+5879T>G) c.400T>G (p.Leu134Val) c.283T>G (p.Leu95Val) n.319+5879T>G c.*98T>G (n.*98T>G) c.255T>G (p.Leu85=) c.393T>G (p.Leu131=) c.444T>G c.145+5879T>G n.538T>G n.489T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094890T= | CA2000554007 | SDHD | c.*139T= (n.*139T=) c.314+5879T= (n.314+5879T=) c.400T= (p.Leu134=) c.283T= (p.Leu95=) n.319+5879T= c.*98T= (n.*98T=) c.255T= (p.Leu85=) c.393T= (p.Leu131=) c.444T= c.145+5879T= n.538T= n.489T= | |
| 11 | g.112094891T>A | CA382619233 | SDHD | c.*140T>A (n.*140T>A) c.314+5880T>A (n.314+5880T>A) c.401T>A (p.Leu134Ter) c.284T>A (p.Leu95Ter) n.319+5880T>A c.*99T>A (n.*99T>A) c.256T>A (p.Ter86Lys) c.394T>A (p.Ter132Lys) c.445T>A c.145+5880T>A n.539T>A n.490T>A | |
| 11 | g.112094891T>C | CA382619232 | SDHD | c.*140T>C (n.*140T>C) c.314+5880T>C (n.314+5880T>C) c.401T>C (p.Leu134Ser) c.284T>C (p.Leu95Ser) n.319+5880T>C c.*99T>C (n.*99T>C) c.256T>C (p.Ter86Gln) c.394T>C (p.Ter132Gln) c.445T>C c.145+5880T>C n.539T>C n.490T>C | |
| 11 | g.112094891T>G | CA382619231 | SDHD | c.*140T>G (n.*140T>G) c.314+5880T>G (n.314+5880T>G) c.401T>G (p.Leu134Ter) c.284T>G (p.Leu95Ter) n.319+5880T>G c.*99T>G (n.*99T>G) c.256T>G (p.Ter86Glu) c.394T>G (p.Ter132Glu) c.445T>G c.145+5880T>G n.539T>G n.490T>G | |
| 11 | g.112094892A>C | CA382619234 | SDHD | c.*141A>C (n.*141A>C) c.314+5881A>C (n.314+5881A>C) c.402A>C (p.Leu134Phe) c.285A>C (p.Leu95Phe) n.319+5881A>C c.*100A>C (n.*100A>C) c.257A>C (p.Ter86Ser) c.395A>C (p.Ter132Ser) c.446A>C c.145+5881A>C n.540A>C n.491A>C | |
| 11 | g.112094892A>G | CA476790953 | SDHD | c.*141A>G (n.*141A>G) c.314+5881A>G (n.314+5881A>G) c.402A>G (p.Leu134=) c.285A>G (p.Leu95=) n.319+5881A>G c.*100A>G (n.*100A>G) c.257A>G (p.Ter86=) c.395A>G (p.Ter132=) c.446A>G c.145+5881A>G n.540A>G n.491A>G | |
| 11 | g.112094892A>T | CA382619235 | SDHD | c.*141A>T (n.*141A>T) c.314+5881A>T (n.314+5881A>T) c.402A>T (p.Leu134Phe) c.285A>T (p.Leu95Phe) n.319+5881A>T c.*100A>T (n.*100A>T) c.257A>T (p.Ter86Leu) c.395A>T (p.Ter132Leu) c.446A>T c.145+5881A>T n.540A>T n.491A>T | |
| 11 | g.112094893A>C | CA382619236 | SDHD | c.*142A>C (n.*142A>C) c.314+5882A>C (n.314+5882A>C) c.403A>C (p.Thr135Pro) c.286A>C (p.Thr96Pro) n.319+5882A>C c.*101A>C (n.*101A>C) c.258A>C (p.Ter86Tyr) c.396A>C (p.Ter132Tyr) c.447A>C c.145+5882A>C n.541A>C n.492A>C | |
| 11 | g.112094893A>G | CA382619237 | SDHD | c.*142A>G (n.*142A>G) c.314+5882A>G (n.314+5882A>G) c.403A>G (p.Thr135Ala) c.286A>G (p.Thr96Ala) n.319+5882A>G c.*101A>G (n.*101A>G) c.258A>G (p.Ter86=) c.396A>G (p.Ter132=) c.447A>G c.145+5882A>G n.541A>G n.492A>G | |
| 11 | g.112094893A>T | CA382619239 | SDHD | c.*142A>T (n.*142A>T) c.314+5882A>T (n.314+5882A>T) c.403A>T (p.Thr135Ser) c.286A>T (p.Thr96Ser) n.319+5882A>T c.*101A>T (n.*101A>T) c.258A>T (p.Ter86Tyr) c.396A>T (p.Ter132Tyr) c.447A>T c.145+5882A>T n.541A>T n.492A>T | |
| 11 | g.112094893_112094894delinsAC | CA2000554009 | SDHD | c.*142_*143delinsAC (n.*142_*143delinsAC) c.314+5882_314+5883delinsAC (n.314+5882_314+5883delinsAC) c.403_404delinsAC (p.Thr135=) c.286_287delinsAC (p.Thr96=) n.319+5882_319+5883delinsAC c.*101_*102delinsAC (n.*101_*102delinsAC) c.258_*1delinsAC (n.[c.258_*1delinsAC;Ter86=]) c.396_*1delinsAC (n.[c.396_*1delinsAC;Ter132=]) c.447_448delinsAC c.145+5882_145+5883delinsAC n.541_542delinsAC n.492_493delinsAC | |
| 11 | g.112094894C>A | CA382619240 | SDHD | c.*143C>A (n.*143C>A) c.314+5883C>A (n.314+5883C>A) c.404C>A (p.Thr135Asn) c.287C>A (p.Thr96Asn) n.319+5883C>A c.*102C>A (n.*102C>A) c.*1C>A (n.*1C>A) c.448C>A c.145+5883C>A n.542C>A n.493C>A | |
| 11 | g.112094894C>G | CA382619241 | SDHD | c.*143C>G (n.*143C>G) c.314+5883C>G (n.314+5883C>G) c.404C>G (p.Thr135Ser) c.287C>G (p.Thr96Ser) n.319+5883C>G c.*102C>G (n.*102C>G) c.*1C>G (n.*1C>G) c.448C>G c.145+5883C>G n.542C>G n.493C>G | |
| 11 | g.112094894C>T | CA382619243 | SDHD | c.*143C>T (n.*143C>T) c.314+5883C>T (n.314+5883C>T) c.404C>T (p.Thr135Ile) c.287C>T (p.Thr96Ile) n.319+5883C>T c.*102C>T (n.*102C>T) c.*1C>T (n.*1C>T) c.448C>T c.145+5883C>T n.542C>T n.493C>T | ClinVar dbSNP |
| 11 | g.112094895del | CA942278927 | SDHD | c.*144del (n.*144del) c.314+5884del (n.314+5884del) c.405del (p.Phe136LeufsTer?) c.288del (p.Phe97LeufsTer?) n.319+5884del c.*103del (n.*103del) c.*2del (n.*2del) c.449del c.145+5884del n.543del n.494del | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112094895C>A | CA476790954 | SDHD | c.*144C>A (n.*144C>A) c.314+5884C>A (n.314+5884C>A) c.405C>A (p.Thr135=) c.288C>A (p.Thr96=) n.319+5884C>A c.*103C>A (n.*103C>A) c.*2C>A (n.*2C>A) c.449C>A c.145+5884C>A n.543C>A n.494C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112094895C= | CA2000554010 | SDHD | c.*144C= (n.*144C=) c.314+5884C= (n.314+5884C=) c.405C= (p.Thr135=) c.288C= (p.Thr96=) n.319+5884C= c.*103C= (n.*103C=) c.*2C= (n.*2C=) c.449C= c.145+5884C= n.543C= n.494C= | |
| 11 | g.112094895C>G | CA476790955 | SDHD | c.*144C>G (n.*144C>G) c.314+5884C>G (n.314+5884C>G) c.405C>G (p.Thr135=) c.288C>G (p.Thr96=) n.319+5884C>G c.*103C>G (n.*103C>G) c.*2C>G (n.*2C>G) c.449C>G c.145+5884C>G n.543C>G n.494C>G | |
| 11 | g.112094895C>T | CA476790956 | SDHD | c.*144C>T (n.*144C>T) c.314+5884C>T (n.314+5884C>T) c.405C>T (p.Thr135=) c.288C>T (p.Thr96=) n.319+5884C>T c.*103C>T (n.*103C>T) c.*2C>T (n.*2C>T) c.449C>T c.145+5884C>T n.543C>T n.494C>T | ClinVar dbSNP |
| 11 | g.112094896T>A | CA382619247 | SDHD | c.*145T>A (n.*145T>A) c.314+5885T>A (n.314+5885T>A) c.406T>A (p.Phe136Ile) c.289T>A (p.Phe97Ile) n.319+5885T>A c.*104T>A (n.*104T>A) c.*3T>A (n.*3T>A) c.450T>A c.145+5885T>A n.544T>A n.495T>A | |
| 11 | g.112094896T>C | CA382619248 | SDHD | c.*145T>C (n.*145T>C) c.314+5885T>C (n.314+5885T>C) c.406T>C (p.Phe136Leu) c.289T>C (p.Phe97Leu) n.319+5885T>C c.*104T>C (n.*104T>C) c.*3T>C (n.*3T>C) c.450T>C c.145+5885T>C n.544T>C n.495T>C | |
| 11 | g.112094896T>G | CA382619249 | SDHD | c.*145T>G (n.*145T>G) c.314+5885T>G (n.314+5885T>G) c.406T>G (p.Phe136Val) c.289T>G (p.Phe97Val) n.319+5885T>G c.*104T>G (n.*104T>G) c.*3T>G (n.*3T>G) c.450T>G c.145+5885T>G n.544T>G n.495T>G | |
| 11 | g.112094898del | CA2695215340 | SDHD | c.*147del (n.*147del) c.314+5887del (n.314+5887del) c.408del (p.Phe136LeufsTer?) c.291del (p.Phe97LeufsTer?) n.319+5887del c.*106del (n.*106del) c.*5del (n.*5del) c.452del c.145+5887del n.546del n.497del |