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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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 | |
| 1 | g.17028670_17028675delinsTCAATC | CA1156080505 | SDHB | c.177_182delinsGATTGA (p.Arg59=) c.306_311delinsGATTGA (p.Arg102=) c.348_353delinsGATTGA (p.Arg116=) n.265_270delinsGATTGA n.336_341delinsGATTGA | |
| 1 | g.17028671C>A | CA015778 | SDHB | c.181G>T (p.Asp61Tyr) c.310G>T (p.Asp104Tyr) c.352G>T (p.Asp118Tyr) n.269G>T n.340G>T | ClinVar dbSNP |
| 1 | g.17028671C= | CA1143390144 | SDHB | c.181G= (p.Asp61=) c.310G= (p.Asp104=) c.352G= (p.Asp118=) n.269G= n.340G= | |
| 1 | g.17028671C>G | CA338274577 | SDHB | c.181G>C (p.Asp61His) c.310G>C (p.Asp104His) c.352G>C (p.Asp118His) n.269G>C n.340G>C | |
| 1 | g.17028671C>T | CA089595 | SDHB | c.181G>A (p.Asp61Asn) c.310G>A (p.Asp104Asn) c.352G>A (p.Asp118Asn) n.269G>A n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028672_17028676del | CA521039524 | SDHB | c.177_181del (p.Ile60HisfsTer5) c.306_310del (p.Ile103HisfsTer5) c.348_352del (p.Ile117HisfsTer5) n.265_269del n.336_340del | ClinVar dbSNP gnomAD v2 |
| 1 | g.17028674_17028687del | CA658655534 | SDHB | c.168_181del (p.Cys56Ter) c.297_310del (p.Cys99Ter) c.339_352del (p.Cys113Ter) n.256_269del n.327_340del | |
| 1 | g.17028672A>C | CA338274580 | SDHB | c.180T>G (p.Ile60Met) c.309T>G (p.Ile103Met) c.351T>G (p.Ile117Met) n.268T>G n.339T>G | |
| 1 | g.17028672A>G | CA416087847 | SDHB | c.180T>C (p.Ile60=) c.309T>C (p.Ile103=) c.351T>C (p.Ile117=) n.268T>C n.339T>C | |
| 1 | g.17028672A>T | CA416087849 | SDHB | c.180T>A (p.Ile60=) c.309T>A (p.Ile103=) c.351T>A (p.Ile117=) n.268T>A n.339T>A | ClinVar dbSNP |
| 1 | g.17028673A= | CA1156080506 | SDHB | c.179T= (p.Ile60=) c.308T= (p.Ile103=) c.350T= (p.Ile117=) n.267T= n.338T= | |
| 1 | g.17028673A>C | CA338274592 | SDHB | c.179T>G (p.Ile60Ser) c.308T>G (p.Ile103Ser) c.350T>G (p.Ile117Ser) n.267T>G n.338T>G | |
| 1 | g.17028673A>G | CA338274586 | SDHB | c.179T>C (p.Ile60Thr) c.308T>C (p.Ile103Thr) c.350T>C (p.Ile117Thr) n.267T>C n.338T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17028673A>T | CA338274593 | SDHB | c.179T>A (p.Ile60Asn) c.308T>A (p.Ile103Asn) c.350T>A (p.Ile117Asn) n.267T>A n.338T>A | |
| 1 | g.17028674T>A | CA338274597 | SDHB | c.178A>T (p.Ile60Phe) c.307A>T (p.Ile103Phe) c.349A>T (p.Ile117Phe) n.266A>T n.337A>T | |
| 1 | g.17028674T>C | CA338274611 | SDHB | c.178A>G (p.Ile60Val) c.307A>G (p.Ile103Val) c.349A>G (p.Ile117Val) n.266A>G n.337A>G | ClinVar |
| 1 | g.17028674T>G | CA338274616 | SDHB | c.178A>C (p.Ile60Leu) c.307A>C (p.Ile103Leu) c.349A>C (p.Ile117Leu) n.266A>C n.337A>C | |
| 1 | g.17028675C>A | CA338274621 | SDHB | c.177G>T (p.Arg59Ser) c.306G>T (p.Arg102Ser) c.348G>T (p.Arg116Ser) n.265G>T n.336G>T | ClinVar dbSNP |
| 1 | g.17028675C= | CA1156080507 | SDHB | c.177G= (p.Arg59=) c.306G= (p.Arg102=) c.348G= (p.Arg116=) n.265G= n.336G= | |
| 1 | g.17028675C>G | CA338274626 | SDHB | c.177G>C (p.Arg59Ser) c.306G>C (p.Arg102Ser) c.348G>C (p.Arg116Ser) n.265G>C n.336G>C | dbSNP |
| 1 | g.17028675C>T | CA416087861 | SDHB | c.177G>A (p.Arg59=) c.306G>A (p.Arg102=) c.348G>A (p.Arg116=) n.265G>A n.336G>A | gnomAD v4 |
| 1 | g.17028676C>A | CA338274628 | SDHB | c.176G>T (p.Arg59Met) c.305G>T (p.Arg102Met) c.347G>T (p.Arg116Met) n.264G>T n.335G>T | ClinVar dbSNP |
| 1 | g.17028676C= | CA1156080508 | SDHB | c.176G= (p.Arg59=) c.305G= (p.Arg102=) c.347G= (p.Arg116=) n.264G= n.335G= | |
| 1 | g.17028676C>G | CA089593 | SDHB | c.176G>C (p.Arg59Thr) c.305G>C (p.Arg102Thr) c.347G>C (p.Arg116Thr) n.264G>C n.335G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028676C>T | CA338274648 | SDHB | c.176G>A (p.Arg59Lys) c.305G>A (p.Arg102Lys) c.347G>A (p.Arg116Lys) n.264G>A n.335G>A | ClinVar |
| 1 | g.17028677T>A | CA338274668 | SDHB | c.175A>T (p.Arg59Trp) c.304A>T (p.Arg102Trp) c.346A>T (p.Arg116Trp) n.263A>T n.334A>T | |
| 1 | g.17028677T>C | CA338274673 | SDHB | c.175A>G (p.Arg59Gly) c.304A>G (p.Arg102Gly) c.346A>G (p.Arg116Gly) n.263A>G n.334A>G | |
| 1 | g.17028677T>G | CA416087879 | SDHB | c.175A>C (p.Arg59=) c.304A>C (p.Arg102=) c.346A>C (p.Arg116=) n.263A>C n.334A>C | ClinVar |
| 1 | g.17028678T>A | CA416087883 | SDHB | c.174A>T (p.Arg58=) c.303A>T (p.Arg101=) c.345A>T (p.Arg115=) n.262A>T n.333A>T | |
| 1 | g.17028678T>C | CA416087884 | SDHB | c.174A>G (p.Arg58=) c.303A>G (p.Arg101=) c.345A>G (p.Arg115=) n.262A>G n.333A>G | |
| 1 | g.17028678T>G | CA416087885 | SDHB | c.174A>C (p.Arg58=) c.303A>C (p.Arg101=) c.345A>C (p.Arg115=) n.262A>C n.333A>C | |
| 1 | g.17028679C>A | CA089592 | SDHB | c.173G>T (p.Arg58Leu) c.302G>T (p.Arg101Leu) c.344G>T (p.Arg115Leu) n.261G>T n.332G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028679C= | CA1143451603 | SDHB | c.173G= (p.Arg58=) c.302G= (p.Arg101=) c.344G= (p.Arg115=) n.261G= n.332G= | |
| 1 | g.17028679C>G | CA338274685 | SDHB | c.173G>C (p.Arg58Pro) c.302G>C (p.Arg101Pro) c.344G>C (p.Arg115Pro) n.261G>C n.332G>C | dbSNP |
| 1 | g.17028679C>T | CA015769 | SDHB | c.173G>A (p.Arg58Gln) c.302G>A (p.Arg101Gln) c.344G>A (p.Arg115Gln) n.261G>A n.332G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028680G>A | CA015763 | SDHB | c.172C>T (p.Arg58Ter) c.301C>T (p.Arg101Ter) c.343C>T (p.Arg115Ter) n.260C>T n.331C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.17028680G>C | CA338274697 | SDHB | c.172C>G (p.Arg58Gly) c.301C>G (p.Arg101Gly) c.343C>G (p.Arg115Gly) n.260C>G n.331C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028680G= | CA1156080509 | SDHB | c.172C= (p.Arg58=) c.301C= (p.Arg101=) c.343C= (p.Arg115=) n.260C= n.331C= | |
| 1 | g.17028680G>T | CA416087896 | SDHB | c.172C>A (p.Arg58=) c.301C>A (p.Arg101=) c.343C>A (p.Arg115=) n.260C>A n.331C>A | |
| 1 | g.17028681G>A | CA18666709 | SDHB | c.171C>T (p.Thr57=) c.300C>T (p.Thr100=) c.342C>T (p.Thr114=) n.259C>T n.330C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028681G>C | CA416087903 | SDHB | c.171C>G (p.Thr57=) c.300C>G (p.Thr100=) c.342C>G (p.Thr114=) n.259C>G n.330C>G | ClinVar |
| 1 | g.17028681G= | CA1144336504 | SDHB | c.171C= (p.Thr57=) c.300C= (p.Thr100=) c.342C= (p.Thr114=) n.259C= n.330C= | |
| 1 | g.17028681G>T | CA416087902 | SDHB | c.171C>A (p.Thr57=) c.300C>A (p.Thr100=) c.342C>A (p.Thr114=) n.259C>A n.330C>A | ClinVar |
| 1 | g.17028682G>A | CA338274733 | SDHB | c.170C>T (p.Thr57Ile) c.299C>T (p.Thr100Ile) c.341C>T (p.Thr114Ile) n.258C>T n.329C>T | ClinVar |
| 1 | g.17028682G>C | CA338274737 | SDHB | c.170C>G (p.Thr57Ser) c.299C>G (p.Thr100Ser) c.341C>G (p.Thr114Ser) n.258C>G n.329C>G | |
| 1 | g.17028682G>T | CA338274739 | SDHB | c.170C>A (p.Thr57Asn) c.299C>A (p.Thr100Asn) c.341C>A (p.Thr114Asn) n.258C>A n.329C>A | |
| 1 | g.17028683T>A | CA338274743 | SDHB | c.169A>T (p.Thr57Ser) c.298A>T (p.Thr100Ser) c.340A>T (p.Thr114Ser) n.257A>T n.328A>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028683T>C | CA338274746 | SDHB | c.169A>G (p.Thr57Ala) c.298A>G (p.Thr100Ala) c.340A>G (p.Thr114Ala) n.257A>G n.328A>G | ClinVar dbSNP |
| 1 | g.17028683T>G | CA338274750 | SDHB | c.169A>C (p.Thr57Pro) c.298A>C (p.Thr100Pro) c.340A>C (p.Thr114Pro) n.257A>C n.328A>C | dbSNP |