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.17028709_17028711del | CA658655531 | SDHB | c.143_145del (p.Ile48del) c.272_274del (p.Ile91del) c.314_316del (p.Ile105del) n.231_233del n.302_304del | |
1 | g.17028708G>A | CA416088029 | SDHB | c.144C>T (p.Ile48=) c.273C>T (p.Ile91=) c.315C>T (p.Ile105=) n.232C>T n.303C>T | ClinVar |
1 | g.17028708G>C | CA338274968 | SDHB | c.144C>G (p.Ile48Met) c.273C>G (p.Ile91Met) c.315C>G (p.Ile105Met) n.232C>G n.303C>G | ClinVar |
1 | g.17028708G>T | CA416088031 | SDHB | c.144C>A (p.Ile48=) c.273C>A (p.Ile91=) c.315C>A (p.Ile105=) n.232C>A n.303C>A | |
1 | g.17028708_17028718del | CA2580060626 | SDHB | c.134_144del (p.Ala45GlufsTer13) c.263_273del (p.Ala88GlufsTer13) c.305_315del (p.Ala102GlufsTer13) n.222_232del n.293_303del | ClinVar |
1 | g.17028709A= | CA1156080527 | SDHB | c.143T= (p.Ile48=) c.272T= (p.Ile91=) c.314T= (p.Ile105=) n.231T= n.302T= | |
1 | g.17028709A>C | CA338274976 | SDHB | c.143T>G (p.Ile48Ser) c.272T>G (p.Ile91Ser) c.314T>G (p.Ile105Ser) n.231T>G n.302T>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028709A>G | CA338274980 | SDHB | c.143T>C (p.Ile48Thr) c.272T>C (p.Ile91Thr) c.314T>C (p.Ile105Thr) n.231T>C n.302T>C | |
1 | g.17028709A>T | CA338274981 | SDHB | c.143T>A (p.Ile48Asn) c.272T>A (p.Ile91Asn) c.314T>A (p.Ile105Asn) n.231T>A n.302T>A | |
1 | g.17028710T>A | CA338274990 | SDHB | c.142A>T (p.Ile48Phe) c.271A>T (p.Ile91Phe) c.313A>T (p.Ile105Phe) n.230A>T n.301A>T | ClinVar |
1 | g.17028710T>C | CA338274995 | SDHB | c.142A>G (p.Ile48Val) c.271A>G (p.Ile91Val) c.313A>G (p.Ile105Val) n.230A>G n.301A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028710T>G | CA338274997 | SDHB | c.142A>C (p.Ile48Leu) c.271A>C (p.Ile91Leu) c.313A>C (p.Ile105Leu) n.230A>C n.301A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028710T= | CA1156080528 | SDHB | c.142A= (p.Ile48=) c.271A= (p.Ile91=) c.313A= (p.Ile105=) n.230A= n.301A= | |
1 | g.17028712_17028713insGCAGTGT | CA2586966132 | SDHB | c.142_143insCTGCACA (p.Ile48ThrfsTer16) c.271_272insCTGCACA (p.Ile91ThrfsTer16) c.313_314insCTGCACA (p.Ile105ThrfsTer16) n.230_231insCTGCACA n.301_302insCTGCACA | |
1 | g.17028711G>A | CA10577677 | SDHB | c.141C>T (p.Asn47=) c.270C>T (p.Asn90=) c.312C>T (p.Asn104=) n.229C>T n.300C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028711G>C | CA338275011 | SDHB | c.141C>G (p.Asn47Lys) c.270C>G (p.Asn90Lys) c.312C>G (p.Asn104Lys) n.229C>G n.300C>G | dbSNP gnomAD v4 |
1 | g.17028711G= | CA1156080529 | SDHB | c.141C= (p.Asn47=) c.270C= (p.Asn90=) c.312C= (p.Asn104=) n.229C= n.300C= | |
1 | g.17028711G>T | CA338275006 | SDHB | c.141C>A (p.Asn47Lys) c.270C>A (p.Asn90Lys) c.312C>A (p.Asn104Lys) n.229C>A n.300C>A | |
1 | g.17028711_17028712delinsGT | CA1156080530 | SDHB | c.140_141delinsAC (p.Asn47=) c.269_270delinsAC (p.Asn90=) c.311_312delinsAC (p.Asn104=) n.228_229delinsAC n.299_300delinsAC | |
1 | g.17028711_17028712insC | CA338275015 | SDHB | c.140_141insG (p.Asn47LysfsTer15) c.269_270insG (p.Asn90LysfsTer15) c.311_312insG (p.Asn104LysfsTer15) n.228_229insG n.299_300insG | dbSNP gnomAD v4 |
1 | g.17028712T>A | CA338275031 | SDHB | c.140A>T (p.Asn47Ile) c.269A>T (p.Asn90Ile) c.311A>T (p.Asn104Ile) n.228A>T n.299A>T | |
1 | g.17028712T>C | CA338275033 | SDHB | c.140A>G (p.Asn47Ser) c.269A>G (p.Asn90Ser) c.311A>G (p.Asn104Ser) n.228A>G n.299A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028712T>G | CA338275035 | SDHB | c.140A>C (p.Asn47Thr) c.269A>C (p.Asn90Thr) c.311A>C (p.Asn104Thr) n.228A>C n.299A>C | |
1 | g.17028712T= | CA1156080531 | SDHB | c.140A= (p.Asn47=) c.269A= (p.Asn90=) c.311A= (p.Asn104=) n.228A= n.299A= | |
1 | g.17028712delinsCC | CA188076 | SDHB | c.140delinsGG (p.Asn47ArgfsTer15) c.269delinsGG (p.Asn90ArgfsTer15) c.311delinsGG (p.Asn104ArgfsTer15) n.228delinsGG n.299delinsGG | ClinVar dbSNP |
1 | g.17028713T>A | CA338275041 | SDHB | c.139A>T (p.Asn47Tyr) c.268A>T (p.Asn90Tyr) c.310A>T (p.Asn104Tyr) n.227A>T n.298A>T | |
1 | g.17028713T>C | CA338275040 | SDHB | c.139A>G (p.Asn47Asp) c.268A>G (p.Asn90Asp) c.310A>G (p.Asn104Asp) n.227A>G n.298A>G | |
1 | g.17028713T>G | CA338275038 | SDHB | c.139A>C (p.Asn47His) c.268A>C (p.Asn90His) c.310A>C (p.Asn104His) n.227A>C n.298A>C | |
1 | g.17028714C>A | CA338275043 | SDHB | c.138G>T (p.Met46Ile) c.267G>T (p.Met89Ile) c.309G>T (p.Met103Ile) n.226G>T n.297G>T | |
1 | g.17028714C= | CA1156080532 | SDHB | c.138G= (p.Met46=) c.267G= (p.Met89=) c.309G= (p.Met103=) n.226G= n.297G= | |
1 | g.17028714C>G | CA338275045 | SDHB | c.138G>C (p.Met46Ile) c.267G>C (p.Met89Ile) c.309G>C (p.Met103Ile) n.226G>C n.297G>C | |
1 | g.17028714C>T | CA338275048 | SDHB | c.138G>A (p.Met46Ile) c.267G>A (p.Met89Ile) c.309G>A (p.Met103Ile) n.226G>A n.297G>A | ClinVar dbSNP |
1 | g.17028715A= | CA1156080533 | SDHB | c.137T= (p.Met46=) c.266T= (p.Met89=) c.308T= (p.Met103=) n.225T= n.296T= | |
1 | g.17028715A>C | CA338275051 | SDHB | c.137T>G (p.Met46Arg) c.266T>G (p.Met89Arg) c.308T>G (p.Met103Arg) n.225T>G n.296T>G | ClinVar dbSNP |
1 | g.17028715A>G | CA338275056 | SDHB | c.137T>C (p.Met46Thr) c.266T>C (p.Met89Thr) c.308T>C (p.Met103Thr) n.225T>C n.296T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17028715A>T | CA338275065 | SDHB | c.137T>A (p.Met46Lys) c.266T>A (p.Met89Lys) c.308T>A (p.Met103Lys) n.225T>A n.296T>A | |
1 | g.17028716T>A | CA338275068 | SDHB | c.136A>T (p.Met46Leu) c.265A>T (p.Met89Leu) c.307A>T (p.Met103Leu) n.224A>T n.295A>T | |
1 | g.17028716T>C | CA089584 | SDHB | c.136A>G (p.Met46Val) c.265A>G (p.Met89Val) c.307A>G (p.Met103Val) n.224A>G n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028716T>G | CA338275074 | SDHB | c.136A>C (p.Met46Leu) c.265A>C (p.Met89Leu) c.307A>C (p.Met103Leu) n.224A>C n.295A>C | |
1 | g.17028716T= | CA1141726522 | SDHB | c.136A= (p.Met46=) c.265A= (p.Met89=) c.307A= (p.Met103=) n.224A= n.295A= | |
1 | g.17028717T>A | CA416088071 | SDHB | c.135A>T (p.Ala45=) c.264A>T (p.Ala88=) c.306A>T (p.Ala102=) n.223A>T n.294A>T | |
1 | g.17028717T>C | CA416088073 | SDHB | c.135A>G (p.Ala45=) c.264A>G (p.Ala88=) c.306A>G (p.Ala102=) n.223A>G n.294A>G | ClinVar dbSNP |
1 | g.17028717T>G | CA416088075 | SDHB | c.135A>C (p.Ala45=) c.264A>C (p.Ala88=) c.306A>C (p.Ala102=) n.223A>C n.294A>C | gnomAD v4 |
1 | g.17028717T= | CA1156080534 | SDHB | c.135A= (p.Ala45=) c.264A= (p.Ala88=) c.306A= (p.Ala102=) n.223A= n.294A= | |
1 | g.17028718G>A | CA338275075 | SDHB | c.134C>T (p.Ala45Val) c.263C>T (p.Ala88Val) c.305C>T (p.Ala102Val) n.222C>T n.293C>T | ClinVar dbSNP |
1 | g.17028718G>C | CA338275077 | SDHB | c.134C>G (p.Ala45Gly) c.263C>G (p.Ala88Gly) c.305C>G (p.Ala102Gly) n.222C>G n.293C>G | |
1 | g.17028718G>T | CA338275080 | SDHB | c.134C>A (p.Ala45Glu) c.263C>A (p.Ala88Glu) c.305C>A (p.Ala102Glu) n.222C>A n.293C>A | |
1 | g.17028719C>A | CA338275083 | SDHB | c.133G>T (p.Ala45Ser) c.262G>T (p.Ala88Ser) c.304G>T (p.Ala102Ser) n.221G>T n.292G>T | |
1 | g.17028719C= | CA1156080535 | SDHB | c.133G= (p.Ala45=) c.262G= (p.Ala88=) c.304G= (p.Ala102=) n.221G= n.292G= |