Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | ClinVar |
1 | g.17027754dup | CA658820982 | SDHB | c.366dup (p.Leu123ThrfsTer14) c.495dup (p.Leu166ThrfsTer14) c.537dup (p.Leu180ThrfsTer14) c.366dup (p.Leu123ThrfsTer?) n.454dup n.471dup | ClinVar dbSNP |
1 | g.17027753T>A | CA338272421 | SDHB | c.365A>T (p.Lys122Ile) c.494A>T (p.Lys165Ile) c.536A>T (p.Lys179Ile) n.453A>T n.470A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17027753T>C | CA338272419 | SDHB | c.365A>G (p.Lys122Arg) c.494A>G (p.Lys165Arg) c.536A>G (p.Lys179Arg) n.453A>G n.470A>G | |
1 | g.17027753T>G | CA338272416 | SDHB | c.365A>C (p.Lys122Thr) c.494A>C (p.Lys165Thr) c.536A>C (p.Lys179Thr) n.453A>C n.470A>C | |
1 | g.17027753T= | CA1156080157 | SDHB | c.365A= (p.Lys122=) c.494A= (p.Lys165=) c.536A= (p.Lys179=) n.453A= n.470A= | |
1 | g.17027754T>A | CA338272424 | SDHB | c.364A>T (p.Lys122Ter) c.493A>T (p.Lys165Ter) c.535A>T (p.Lys179Ter) n.452A>T n.469A>T | |
1 | g.17027754T>C | CA338272429 | SDHB | c.364A>G (p.Lys122Glu) c.493A>G (p.Lys165Glu) c.535A>G (p.Lys179Glu) n.452A>G n.469A>G | |
1 | g.17027754T>G | CA338272427 | SDHB | c.364A>C (p.Lys122Gln) c.493A>C (p.Lys165Gln) c.535A>C (p.Lys179Gln) n.452A>C n.469A>C | |
1 | g.17027755C>A | CA338272431 | SDHB | c.363G>T (p.Glu121Asp) c.492G>T (p.Glu164Asp) c.534G>T (p.Glu178Asp) n.451G>T n.468G>T | ClinVar dbSNP |
1 | g.17027755C= | CA1156080158 | SDHB | c.363G= (p.Glu121=) c.492G= (p.Glu164=) c.534G= (p.Glu178=) n.451G= n.468G= | |
1 | g.17027755C>G | CA338272433 | SDHB | c.363G>C (p.Glu121Asp) c.492G>C (p.Glu164Asp) c.534G>C (p.Glu178Asp) n.451G>C n.468G>C | |
1 | g.17027755C>T | CA416085665 | SDHB | c.363G>A (p.Glu121=) c.492G>A (p.Glu164=) c.534G>A (p.Glu178=) n.451G>A n.468G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027756T>A | CA338272434 | SDHB | c.362A>T (p.Glu121Val) c.491A>T (p.Glu164Val) c.533A>T (p.Glu178Val) n.450A>T n.467A>T | ClinVar dbSNP |
1 | g.17027756T>C | CA338272439 | SDHB | c.362A>G (p.Glu121Gly) c.491A>G (p.Glu164Gly) c.533A>G (p.Glu178Gly) n.450A>G n.467A>G | |
1 | g.17027756T>G | CA338272436 | SDHB | c.362A>C (p.Glu121Ala) c.491A>C (p.Glu164Ala) c.533A>C (p.Glu178Ala) n.450A>C n.467A>C | |
1 | g.17027757C>A | CA338272447 | SDHB | c.361G>T (p.Glu121Ter) c.490G>T (p.Glu164Ter) c.532G>T (p.Glu178Ter) n.449G>T n.466G>T | |
1 | g.17027757C= | CA1156080159 | SDHB | c.361G= (p.Glu121=) c.490G= (p.Glu164=) c.532G= (p.Glu178=) n.449G= n.466G= | |
1 | g.17027757C>G | CA338272453 | SDHB | c.361G>C (p.Glu121Gln) c.490G>C (p.Glu164Gln) c.532G>C (p.Glu178Gln) n.449G>C n.466G>C | ClinVar dbSNP gnomAD v4 |
1 | g.17027757C>T | CA338272450 | SDHB | c.361G>A (p.Glu121Lys) c.490G>A (p.Glu164Lys) c.532G>A (p.Glu178Lys) n.449G>A n.466G>A | |
1 | g.17027758A>C | CA416085678 | SDHB | c.360T>G (p.Arg120=) c.489T>G (p.Arg163=) c.531T>G (p.Arg177=) n.448T>G n.465T>G | gnomAD v4 |
1 | g.17027758A>G | CA416085681 | SDHB | c.360T>C (p.Arg120=) c.489T>C (p.Arg163=) c.531T>C (p.Arg177=) n.448T>C n.465T>C | |
1 | g.17027758A>T | CA416085682 | SDHB | c.360T>A (p.Arg120=) c.489T>A (p.Arg163=) c.531T>A (p.Arg177=) n.448T>A n.465T>A | |
1 | g.17027759C>A | CA338272456 | SDHB | c.359G>T (p.Arg120Leu) c.488G>T (p.Arg163Leu) c.530G>T (p.Arg177Leu) n.447G>T n.464G>T | ClinVar dbSNP |
1 | g.17027759C= | CA1142363913 | SDHB | c.359G= (p.Arg120=) c.488G= (p.Arg163=) c.530G= (p.Arg177=) n.447G= n.464G= | |
1 | g.17027759C>G | CA338272458 | SDHB | c.359G>C (p.Arg120Pro) c.488G>C (p.Arg163Pro) c.530G>C (p.Arg177Pro) n.447G>C n.464G>C | |
1 | g.17027759C>T | CA089641 | SDHB | c.359G>A (p.Arg120His) c.488G>A (p.Arg163His) c.530G>A (p.Arg177His) n.447G>A n.464G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027760G>A | CA089640 | SDHB | c.358C>T (p.Arg120Cys) c.487C>T (p.Arg163Cys) c.529C>T (p.Arg177Cys) n.446C>T n.463C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027760G>C | CA338272485 | SDHB | c.358C>G (p.Arg120Gly) c.487C>G (p.Arg163Gly) c.529C>G (p.Arg177Gly) n.446C>G n.463C>G | ClinVar gnomAD v4 |
1 | g.17027760G= | CA1142280515 | SDHB | c.358C= (p.Arg120=) c.487C= (p.Arg163=) c.529C= (p.Arg177=) n.446C= n.463C= | |
1 | g.17027760G>T | CA10581746 | SDHB | c.358C>A (p.Arg120Ser) c.487C>A (p.Arg163Ser) c.529C>A (p.Arg177Ser) n.446C>A n.463C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17027761C>A | CA338272490 | SDHB | c.357G>T (p.Glu119Asp) c.486G>T (p.Glu162Asp) c.528G>T (p.Glu176Asp) n.445G>T n.462G>T | |
1 | g.17027761C>G | CA338272492 | SDHB | c.357G>C (p.Glu119Asp) c.486G>C (p.Glu162Asp) c.528G>C (p.Glu176Asp) n.445G>C n.462G>C | |
1 | g.17027761C>T | CA416085696 | SDHB | c.357G>A (p.Glu119=) c.486G>A (p.Glu162=) c.528G>A (p.Glu176=) n.445G>A n.462G>A | ClinVar |
1 | g.17027761_17027766delinsCTCTTC | CA1156080160 | SDHB | c.352_357delinsGAAGAG (p.Glu118=) c.481_486delinsGAAGAG (p.Glu161=) c.523_528delinsGAAGAG (p.Glu175=) n.440_445delinsGAAGAG n.457_462delinsGAAGAG | |
1 | g.17027762T>A | CA338272496 | SDHB | c.356A>T (p.Glu119Val) c.485A>T (p.Glu162Val) c.527A>T (p.Glu176Val) n.444A>T n.461A>T | |
1 | g.17027762T>C | CA089639 | SDHB | c.356A>G (p.Glu119Gly) c.485A>G (p.Glu162Gly) c.527A>G (p.Glu176Gly) n.444A>G n.461A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027762T>G | CA338272500 | SDHB | c.356A>C (p.Glu119Ala) c.485A>C (p.Glu162Ala) c.527A>C (p.Glu176Ala) n.444A>C n.461A>C | |
1 | g.17027762T= | CA1143459197 | SDHB | c.356A= (p.Glu119=) c.485A= (p.Glu162=) c.527A= (p.Glu176=) n.444A= n.461A= | |
1 | g.17027762_17027766delinsCCTT | CA645509077 | SDHB | c.352_356delinsAAGG (p.Glu118LysfsTer?) c.481_485delinsAAGG (p.Glu161LysfsTer?) c.523_527delinsAAGG (p.Glu175LysfsTer?) n.440_444delinsAAGG n.457_461delinsAAGG | ClinVar dbSNP |
1 | g.17027763C>A | CA015940 | SDHB | c.355G>T (p.Glu119Ter) c.484G>T (p.Glu162Ter) c.526G>T (p.Glu176Ter) n.443G>T n.460G>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027763C= | CA1156080161 | SDHB | c.355G= (p.Glu119=) c.484G= (p.Glu162=) c.526G= (p.Glu176=) n.443G= n.460G= | |
1 | g.17027763C>G | CA338272505 | SDHB | c.355G>C (p.Glu119Gln) c.484G>C (p.Glu162Gln) c.526G>C (p.Glu176Gln) n.443G>C n.460G>C | dbSNP |
1 | g.17027763C>T | CA338272503 | SDHB | c.355G>A (p.Glu119Lys) c.484G>A (p.Glu162Lys) c.526G>A (p.Glu176Lys) n.443G>A n.460G>A | ClinVar |
1 | g.17027764T>A | CA338272508 | SDHB | c.354A>T (p.Glu118Asp) c.483A>T (p.Glu161Asp) c.525A>T (p.Glu175Asp) n.442A>T n.459A>T | |
1 | g.17027764T>C | CA416085716 | SDHB | c.354A>G (p.Glu118=) c.483A>G (p.Glu161=) c.525A>G (p.Glu175=) n.442A>G n.459A>G | |
1 | g.17027764T>G | CA338272509 | SDHB | c.354A>C (p.Glu118Asp) c.483A>C (p.Glu161Asp) c.525A>C (p.Glu175Asp) n.442A>C n.459A>C | |
1 | g.17027765T>A | CA338272510 | SDHB | c.353A>T (p.Glu118Val) c.482A>T (p.Glu161Val) c.524A>T (p.Glu175Val) n.441A>T n.458A>T | |
1 | g.17027765T>C | CA089638 | SDHB | c.353A>G (p.Glu118Gly) c.482A>G (p.Glu161Gly) c.524A>G (p.Glu175Gly) n.441A>G n.458A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17027765T>G | CA338272511 | SDHB | c.353A>C (p.Glu118Ala) c.482A>C (p.Glu161Ala) c.524A>C (p.Glu175Ala) n.441A>C n.458A>C |