| 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.17028605C>A | CA015853 | SDHB | c.247G>T (p.Val83Phe) c.376G>T (p.Val126Phe) c.418G>T (p.Val140Phe) n.335G>T n.357+49G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028605C= | CA1143537744 | SDHB | c.247G= (p.Val83=) c.376G= (p.Val126=) c.418G= (p.Val140=) n.335G= n.357+49G= | |
| 1 | g.17028605C>G | CA338273861 | SDHB | c.247G>C (p.Val83Leu) c.376G>C (p.Val126Leu) c.418G>C (p.Val140Leu) n.335G>C n.357+49G>C | |
| 1 | g.17028605C>T | CA338273866 | SDHB | c.247G>A (p.Val83Ile) c.376G>A (p.Val126Ile) c.418G>A (p.Val140Ile) n.335G>A n.357+49G>A | ClinVar |
| 1 | g.17028606A= | CA1156080478 | SDHB | c.246T= (p.Leu82=) c.375T= (p.Leu125=) c.417T= (p.Leu139=) n.334T= n.357+48T= | |
| 1 | g.17028606A>C | CA416087459 | SDHB | c.246T>G (p.Leu82=) c.375T>G (p.Leu125=) c.417T>G (p.Leu139=) n.334T>G n.357+48T>G | |
| 1 | g.17028606A>G | CA416087461 | SDHB | c.246T>C (p.Leu82=) c.375T>C (p.Leu125=) c.417T>C (p.Leu139=) n.334T>C n.357+48T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028606A>T | CA416087463 | SDHB | c.246T>A (p.Leu82=) c.375T>A (p.Leu125=) c.417T>A (p.Leu139=) n.334T>A n.357+48T>A | |
| 1 | g.17028607A= | CA1156080479 | SDHB | c.245T= (p.Leu82=) c.374T= (p.Leu125=) c.416T= (p.Leu139=) n.333T= n.357+47T= | |
| 1 | g.17028607A>C | CA089607 | SDHB | c.245T>G (p.Leu82Arg) c.374T>G (p.Leu125Arg) c.416T>G (p.Leu139Arg) n.333T>G n.357+47T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028607A>G | CA338273899 | SDHB | c.245T>C (p.Leu82Pro) c.374T>C (p.Leu125Pro) c.416T>C (p.Leu139Pro) n.333T>C n.357+47T>C | |
| 1 | g.17028607A>T | CA338273906 | SDHB | c.245T>A (p.Leu82His) c.374T>A (p.Leu125His) c.416T>A (p.Leu139His) n.333T>A n.357+47T>A | |
| 1 | g.17028608G>A | CA015845 | SDHB | c.244C>T (p.Leu82Phe) c.373C>T (p.Leu125Phe) c.415C>T (p.Leu139Phe) n.332C>T n.357+46C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17028608G>C | CA338273919 | SDHB | c.244C>G (p.Leu82Val) c.373C>G (p.Leu125Val) c.415C>G (p.Leu139Val) n.332C>G n.357+46C>G | COSMIC |
| 1 | g.17028608G= | CA1144228683 | SDHB | c.244C= (p.Leu82=) c.373C= (p.Leu125=) c.415C= (p.Leu139=) n.332C= n.357+46C= | |
| 1 | g.17028608G>T | CA338273912 | SDHB | c.244C>A (p.Leu82Ile) c.373C>A (p.Leu125Ile) c.415C>A (p.Leu139Ile) n.332C>A n.357+46C>A | |
| 1 | g.17028609A>C | CA338273928 | SDHB | c.243T>G (p.Asp81Glu) c.372T>G (p.Asp124Glu) c.414T>G (p.Asp138Glu) n.331T>G n.357+45T>G | |
| 1 | g.17028609A>G | CA416087481 | SDHB | c.243T>C (p.Asp81=) c.372T>C (p.Asp124=) c.414T>C (p.Asp138=) n.331T>C n.357+45T>C | |
| 1 | g.17028609A>T | CA338273931 | SDHB | c.243T>A (p.Asp81Glu) c.372T>A (p.Asp124Glu) c.414T>A (p.Asp138Glu) n.331T>A n.357+45T>A | |
| 1 | g.17028610T>A | CA338273939 | SDHB | c.242A>T (p.Asp81Val) c.371A>T (p.Asp124Val) c.413A>T (p.Asp138Val) n.330A>T n.357+44A>T | ClinVar |
| 1 | g.17028610T>C | CA338273943 | SDHB | c.242A>G (p.Asp81Gly) c.371A>G (p.Asp124Gly) c.413A>G (p.Asp138Gly) n.330A>G n.357+44A>G | ClinVar dbSNP |
| 1 | g.17028610T>G | CA338273952 | SDHB | c.242A>C (p.Asp81Ala) c.371A>C (p.Asp124Ala) c.413A>C (p.Asp138Ala) n.330A>C n.357+44A>C | |
| 1 | g.17028610T= | CA1156080480 | SDHB | c.242A= (p.Asp81=) c.371A= (p.Asp124=) c.413A= (p.Asp138=) n.330A= n.357+44A= | |
| 1 | g.17028611C>A | CA015837 | SDHB | c.241G>T (p.Asp81Tyr) c.370G>T (p.Asp124Tyr) c.412G>T (p.Asp138Tyr) n.329G>T n.357+43G>T | ClinVar dbSNP |
| 1 | g.17028611C= | CA1156080481 | SDHB | c.241G= (p.Asp81=) c.370G= (p.Asp124=) c.412G= (p.Asp138=) n.329G= n.357+43G= | |
| 1 | g.17028611C>G | CA338273958 | SDHB | c.241G>C (p.Asp81His) c.370G>C (p.Asp124His) c.412G>C (p.Asp138His) n.329G>C n.357+43G>C | |
| 1 | g.17028611C>T | CA338273962 | SDHB | c.241G>A (p.Asp81Asn) c.370G>A (p.Asp124Asn) c.412G>A (p.Asp138Asn) n.329G>A n.357+43G>A | dbSNP COSMIC |
| 1 | g.17028612del | CA2499214308 | SDHB | c.241del (p.Asp81IlefsTer6) c.370del (p.Asp124IlefsTer6) c.412del (p.Asp138IlefsTer6) n.329del n.357+43del | ClinVar dbSNP |
| 1 | g.17028612C>A | CA338273989 | SDHB | c.240G>T (p.Lys80Asn) c.369G>T (p.Lys123Asn) c.411G>T (p.Lys137Asn) n.328G>T n.357+42G>T | |
| 1 | g.17028612C= | CA1156080482 | SDHB | c.240G= (p.Lys80=) c.369G= (p.Lys123=) c.411G= (p.Lys137=) n.328G= n.357+42G= | |
| 1 | g.17028612C>G | CA338273993 | SDHB | c.240G>C (p.Lys80Asn) c.369G>C (p.Lys123Asn) c.411G>C (p.Lys137Asn) n.328G>C n.357+42G>C | ClinVar dbSNP |
| 1 | g.17028612C>T | CA416087493 | SDHB | c.240G>A (p.Lys80=) c.369G>A (p.Lys123=) c.411G>A (p.Lys137=) n.328G>A n.357+42G>A | ClinVar dbSNP |
| 1 | g.17028613T>A | CA338273996 | SDHB | c.239A>T (p.Lys80Met) c.368A>T (p.Lys123Met) c.410A>T (p.Lys137Met) n.327A>T n.357+41A>T | |
| 1 | g.17028613T>C | CA338273997 | SDHB | c.239A>G (p.Lys80Arg) c.368A>G (p.Lys123Arg) c.410A>G (p.Lys137Arg) n.327A>G n.357+41A>G | gnomAD v4 |
| 1 | g.17028613T>G | CA338273998 | SDHB | c.239A>C (p.Lys80Thr) c.368A>C (p.Lys123Thr) c.410A>C (p.Lys137Thr) n.327A>C n.357+41A>C | |
| 1 | g.17028614T>A | CA338274007 | SDHB | c.238A>T (p.Lys80Ter) c.367A>T (p.Lys123Ter) c.409A>T (p.Lys137Ter) n.326A>T n.357+40A>T | |
| 1 | g.17028614T>C | CA338273999 | SDHB | c.238A>G (p.Lys80Glu) c.367A>G (p.Lys123Glu) c.409A>G (p.Lys137Glu) n.326A>G n.357+40A>G | ClinVar dbSNP |
| 1 | g.17028614T>G | CA338274002 | SDHB | c.238A>C (p.Lys80Gln) c.367A>C (p.Lys123Gln) c.409A>C (p.Lys137Gln) n.326A>C n.357+40A>C | |
| 1 | g.17028614T= | CA1156080483 | SDHB | c.238A= (p.Lys80=) c.367A= (p.Lys123=) c.409A= (p.Lys137=) n.326A= n.357+40A= | |
| 1 | g.17028615T>A | CA416087507 | SDHB | c.237A>T (p.Ile79=) c.366A>T (p.Ile122=) c.408A>T (p.Ile136=) n.325A>T n.357+39A>T | |
| 1 | g.17028615T>C | CA338274008 | SDHB | c.237A>G (p.Ile79Met) c.366A>G (p.Ile122Met) c.408A>G (p.Ile136Met) n.325A>G n.357+39A>G | |
| 1 | g.17028615T>G | CA416087510 | SDHB | c.237A>C (p.Ile79=) c.366A>C (p.Ile122=) c.408A>C (p.Ile136=) n.325A>C n.357+39A>C | ClinVar gnomAD v4 |
| 1 | g.17028616A= | CA1156080484 | SDHB | c.236T= (p.Ile79=) c.365T= (p.Ile122=) c.407T= (p.Ile136=) n.324T= n.357+38T= | |
| 1 | g.17028616A>C | CA338274013 | SDHB | c.236T>G (p.Ile79Arg) c.365T>G (p.Ile122Arg) c.407T>G (p.Ile136Arg) n.324T>G n.357+38T>G | ClinVar dbSNP |
| 1 | g.17028616A>G | CA338274009 | SDHB | c.236T>C (p.Ile79Thr) c.365T>C (p.Ile122Thr) c.407T>C (p.Ile136Thr) n.324T>C n.357+38T>C | |
| 1 | g.17028616A>T | CA338274010 | SDHB | c.236T>A (p.Ile79Lys) c.365T>A (p.Ile122Lys) c.407T>A (p.Ile136Lys) n.324T>A n.357+38T>A | |
| 1 | g.17028617del | CA1139768295 | SDHB | c.235del (p.Ile79Ter) c.364del (p.Ile122Ter) c.406del (p.Ile136Ter) n.323del n.357+37del | |
| 1 | g.17028617T>A | CA338274015 | SDHB | c.235A>T (p.Ile79Leu) c.364A>T (p.Ile122Leu) c.406A>T (p.Ile136Leu) n.323A>T n.357+37A>T | ClinVar |
| 1 | g.17028617T>C | CA338274037 | SDHB | c.235A>G (p.Ile79Val) c.364A>G (p.Ile122Val) c.406A>G (p.Ile136Val) n.323A>G n.357+37A>G | ClinVar dbSNP gnomAD v4 |