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.17028593A>G | CA2499214307 | SDHB | c.252+7T>C (n.252+7T>C) c.381+7T>C (n.381+7T>C) c.423+7T>C (n.423+7T>C) n.340+7T>C n.357+61T>C | ClinVar dbSNP |
1 | g.17028593A>T | CA2580060959 | SDHB | c.252+7T>A (n.252+7T>A) c.381+7T>A (n.381+7T>A) c.423+7T>A (n.423+7T>A) n.340+7T>A n.357+61T>A | ClinVar |
1 | g.17028595C>T | CA2643678818 | SDHB | c.252+5G>A (n.252+5G>A) c.381+5G>A (n.381+5G>A) c.423+5G>A (n.423+5G>A) n.340+5G>A n.357+59G>A | gnomAD v4 |
1 | g.17028598A>C | CA338273787 | SDHB | c.252+2T>G (n.252+2T>G) c.381+2T>G (n.381+2T>G) c.423+2T>G (n.423+2T>G) n.340+2T>G n.357+56T>G | |
1 | g.17028598A>G | CA338273789 | SDHB | c.252+2T>C (n.252+2T>C) c.381+2T>C (n.381+2T>C) c.423+2T>C (n.423+2T>C) n.340+2T>C n.357+56T>C | |
1 | g.17028598A>T | CA338273793 | SDHB | c.252+2T>A (n.252+2T>A) c.381+2T>A (n.381+2T>A) c.423+2T>A (n.423+2T>A) n.340+2T>A n.357+56T>A | |
1 | g.17028599C>A | CA338273795 | SDHB | c.252+1G>T (n.252+1G>T) c.381+1G>T (n.381+1G>T) c.423+1G>T (n.423+1G>T) n.340+1G>T n.357+55G>T | ClinVar dbSNP |
1 | g.17028599C= | CA1144232709 | SDHB | c.252+1G= (n.252+1G=) c.381+1G= (n.381+1G=) c.423+1G= (n.423+1G=) n.340+1G= n.357+55G= | |
1 | g.17028599C>G | CA338273797 | SDHB | c.252+1G>C (n.252+1G>C) c.381+1G>C (n.381+1G>C) c.423+1G>C (n.423+1G>C) n.340+1G>C n.357+55G>C | ClinVar dbSNP |
1 | g.17028599C>T | CA015862 | SDHB | c.252+1G>A (n.252+1G>A) c.381+1G>A (n.381+1G>A) c.423+1G>A (n.423+1G>A) n.340+1G>A n.357+55G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028600G>A | CA015879 | SDHB | c.252C>T (p.Pro84=) c.381C>T (p.Pro127=) c.423C>T (p.Pro141=) n.340C>T n.357+54C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028600G>C | CA416087435 | SDHB | c.252C>G (p.Pro84=) c.381C>G (p.Pro127=) c.423C>G (p.Pro141=) n.340C>G n.357+54C>G | dbSNP |
1 | g.17028600G= | CA1142370860 | SDHB | c.252C= (p.Pro84=) c.381C= (p.Pro127=) c.423C= (p.Pro141=) n.340C= n.357+54C= | |
1 | g.17028600G>T | CA18666551 | SDHB | c.252C>A (p.Pro84=) c.381C>A (p.Pro127=) c.423C>A (p.Pro141=) n.340C>A n.357+54C>A | ClinVar dbSNP gnomAD v4 |
1 | g.17028602del | CA658655536 | SDHB | c.252del (p.Asp85IlefsTer2) c.381del (p.Asp128IlefsTer2) c.423del (p.Asp142IlefsTer2) n.340del n.357+54del | |
1 | g.17028601G>A | CA338273810 | SDHB | c.251C>T (p.Pro84Leu) c.380C>T (p.Pro127Leu) c.422C>T (p.Pro141Leu) n.339C>T n.357+53C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028601G>C | CA338273808 | SDHB | c.251C>G (p.Pro84Arg) c.380C>G (p.Pro127Arg) c.422C>G (p.Pro141Arg) n.339C>G n.357+53C>G | ClinVar dbSNP |
1 | g.17028601G= | CA1156080477 | SDHB | c.251C= (p.Pro84=) c.380C= (p.Pro127=) c.422C= (p.Pro141=) n.339C= n.357+53C= | |
1 | g.17028601G>T | CA338273806 | SDHB | c.251C>A (p.Pro84His) c.380C>A (p.Pro127His) c.422C>A (p.Pro141His) n.339C>A n.357+53C>A | |
1 | g.17028602G>A | CA338273811 | SDHB | c.250C>T (p.Pro84Ser) c.379C>T (p.Pro127Ser) c.421C>T (p.Pro141Ser) n.338C>T n.357+52C>T | dbSNP |
1 | g.17028602G>C | CA338273812 | SDHB | c.250C>G (p.Pro84Ala) c.379C>G (p.Pro127Ala) c.421C>G (p.Pro141Ala) n.338C>G n.357+52C>G | |
1 | g.17028602G>T | CA338273817 | SDHB | c.250C>A (p.Pro84Thr) c.379C>A (p.Pro127Thr) c.421C>A (p.Pro141Thr) n.338C>A n.357+52C>A | |
1 | g.17028603A>C | CA416087446 | SDHB | c.249T>G (p.Val83=) c.378T>G (p.Val126=) c.420T>G (p.Val140=) n.337T>G n.357+51T>G | gnomAD v4 |
1 | g.17028603A>G | CA416087448 | SDHB | c.249T>C (p.Val83=) c.378T>C (p.Val126=) c.420T>C (p.Val140=) n.337T>C n.357+51T>C | |
1 | g.17028603A>T | CA416087451 | SDHB | c.249T>A (p.Val83=) c.378T>A (p.Val126=) c.420T>A (p.Val140=) n.337T>A n.357+51T>A | |
1 | g.17028604A>C | CA338273820 | SDHB | c.248T>G (p.Val83Gly) c.377T>G (p.Val126Gly) c.419T>G (p.Val140Gly) n.336T>G n.357+50T>G | |
1 | g.17028604A>G | CA338273828 | SDHB | c.248T>C (p.Val83Ala) c.377T>C (p.Val126Ala) c.419T>C (p.Val140Ala) n.336T>C n.357+50T>C | |
1 | g.17028604A>T | CA338273853 | SDHB | c.248T>A (p.Val83Asp) c.377T>A (p.Val126Asp) c.419T>A (p.Val140Asp) n.336T>A n.357+50T>A | 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 |