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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 |
|---|---|---|---|---|---|
| 21 | g.43066367_43066369delinsCAG | CA2579811012 | CBS | c.325_327delinsCTG (p.Cys109Leu) n.636_638delinsCTG n.768_770delinsCTG c.376_378delinsCTG (p.Cys126Leu) c.10_12delinsCTG (p.Cys4Leu) n.696_698delinsCTG n.475_477delinsCTG | |
| 21 | g.43066367_43066369delinsCCC | CA2579811014 | CBS | c.325_327delinsGGG (p.Cys109Gly) n.636_638delinsGGG n.768_770delinsGGG c.376_378delinsGGG (p.Cys126Gly) c.10_12delinsGGG (p.Cys4Gly) n.696_698delinsGGG n.475_477delinsGGG | |
| 21 | g.43066367_43066369delinsCCG | CA2579811019 | CBS | c.325_327delinsCGG (p.Cys109Arg) n.636_638delinsCGG n.768_770delinsCGG c.376_378delinsCGG (p.Cys126Arg) c.10_12delinsCGG (p.Cys4Arg) n.696_698delinsCGG n.475_477delinsCGG | |
| 21 | g.43066367_43066369delinsCTT | CA2579811009 | CBS | c.325_327delinsAAG (p.Cys109Lys) n.636_638delinsAAG n.768_770delinsAAG c.376_378delinsAAG (p.Cys126Lys) c.10_12delinsAAG (p.Cys4Lys) n.696_698delinsAAG n.475_477delinsAAG | |
| 21 | g.43066368_43066369delinsAC | CA2579811010 | CBS | c.325_326delinsGT (p.Cys109Val) n.636_637delinsGT n.768_769delinsGT c.376_377delinsGT (p.Cys126Val) c.10_11delinsGT (p.Cys4Val) n.696_697delinsGT n.475_476delinsGT | |
| 21 | g.43066368_43066369delinsAT | CA2579811015 | CBS | c.325_326delinsAT (p.Cys109Ile) n.636_637delinsAT n.768_769delinsAT c.376_377delinsAT (p.Cys126Ile) c.10_11delinsAT (p.Cys4Ile) n.696_697delinsAT n.475_476delinsAT | |
| 21 | g.43066368_43066369delinsGC | CA2579811018 | CBS | c.325_326delinsGC (p.Cys109Ala) n.636_637delinsGC n.768_769delinsGC c.376_377delinsGC (p.Cys126Ala) c.10_11delinsGC (p.Cys4Ala) n.696_697delinsGC n.475_476delinsGC | |
| 21 | g.43066368_43066369delinsTC | CA2579811016 | CBS | c.325_326delinsGA (p.Cys109Asp) n.636_637delinsGA n.768_769delinsGA c.376_377delinsGA (p.Cys126Asp) c.10_11delinsGA (p.Cys4Asp) n.696_697delinsGA n.475_476delinsGA | |
| 21 | g.43066368_43066369delinsTG | CA2579811013 | CBS | c.325_326delinsCA (p.Cys109His) n.636_637delinsCA n.768_769delinsCA c.376_377delinsCA (p.Cys126His) c.10_11delinsCA (p.Cys4His) n.696_697delinsCA n.475_476delinsCA | |
| 21 | g.43066368_43066369delinsTT | CA2579811017 | CBS | c.325_326delinsAA (p.Cys109Asn) n.636_637delinsAA n.768_769delinsAA c.376_377delinsAA (p.Cys126Asn) c.10_11delinsAA (p.Cys4Asn) n.696_697delinsAA n.475_476delinsAA | |
| 21 | g.43066369A= | CA2391104187 | CBS | c.325T= (p.Cys109=) n.636T= n.768T= c.376T= (p.Cys126=) c.10T= (p.Cys4=) n.696T= n.475T= | |
| 21 | g.43066369A>C | CA410601946 | CBS | c.325T>G (p.Cys109Gly) n.636T>G n.768T>G c.376T>G (p.Cys126Gly) c.10T>G (p.Cys4Gly) n.696T>G n.475T>G | gnomAD v3 gnomAD v4 |
| 21 | g.43066369A>G | CA324303 | CBS | c.325T>C (p.Cys109Arg) n.636T>C n.768T>C c.376T>C (p.Cys126Arg) c.10T>C (p.Cys4Arg) n.696T>C n.475T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43066369A>T | CA410601945 | CBS | c.325T>A (p.Cys109Ser) n.636T>A n.768T>A c.376T>A (p.Cys126Ser) c.10T>A (p.Cys4Ser) n.696T>A n.475T>A | |
| 21 | g.43066370C>A | CA410601947 | CBS | c.324G>T (p.Lys108Asn) n.635G>T n.767G>T c.375G>T (p.Lys125Asn) c.9G>T (p.Lys3Asn) n.695G>T n.474G>T | |
| 21 | g.43066370C>G | CA410601948 | CBS | c.324G>C (p.Lys108Asn) n.635G>C n.767G>C c.375G>C (p.Lys125Asn) c.9G>C (p.Lys3Asn) n.695G>C n.474G>C | |
| 21 | g.43066370C>T | CA2654728595 | CBS | c.324G>A (p.Lys108=) n.635G>A n.767G>A c.375G>A (p.Lys125=) c.9G>A (p.Lys3=) n.695G>A n.474G>A | ClinVar gnomAD v4 |
| 21 | g.43066370_43066371delinsAA | CA2579807289 | CBS | c.323_324delinsTT (p.Lys108Ile) n.634_635delinsTT n.766_767delinsTT c.374_375delinsTT (p.Lys125Ile) c.8_9delinsTT (p.Lys3Ile) n.694_695delinsTT n.473_474delinsTT | |
| 21 | g.43066370_43066371delinsAC | CA2579807284 | CBS | c.323_324delinsGT (p.Lys108Ser) n.634_635delinsGT n.766_767delinsGT c.374_375delinsGT (p.Lys125Ser) c.8_9delinsGT (p.Lys3Ser) n.694_695delinsGT n.473_474delinsGT | |
| 21 | g.43066370_43066371delinsCT | CA2391104188 | CBS | c.323_324delinsAG (p.Lys108=) n.634_635delinsAG n.766_767delinsAG c.374_375delinsAG (p.Lys125=) c.8_9delinsAG (p.Lys3=) n.694_695delinsAG n.473_474delinsAG | |
| 21 | g.43066370_43066372delinsAAA | CA2579807285 | CBS | c.322_324delinsTTT (p.Lys108Phe) n.633_635delinsTTT n.765_767delinsTTT c.373_375delinsTTT (p.Lys125Phe) c.7_9delinsTTT (p.Lys3Phe) n.693_695delinsTTT n.472_474delinsTTT | |
| 21 | g.43066370_43066372delinsAAG | CA2579807287 | CBS | c.322_324delinsCTT (p.Lys108Leu) n.633_635delinsCTT n.765_767delinsCTT c.373_375delinsCTT (p.Lys125Leu) c.7_9delinsCTT (p.Lys3Leu) n.693_695delinsCTT n.472_474delinsCTT | |
| 21 | g.43066370_43066372delinsACA | CA2579807290 | CBS | c.322_324delinsTGT (p.Lys108Cys) n.633_635delinsTGT n.765_767delinsTGT c.373_375delinsTGT (p.Lys125Cys) c.7_9delinsTGT (p.Lys3Cys) n.693_695delinsTGT n.472_474delinsTGT | |
| 21 | g.43066370_43066372delinsAGA | CA2579807281 | CBS | c.322_324delinsTCT (p.Lys108Ser) n.633_635delinsTCT n.765_767delinsTCT c.373_375delinsTCT (p.Lys125Ser) c.7_9delinsTCT (p.Lys3Ser) n.693_695delinsTCT n.472_474delinsTCT | |
| 21 | g.43066370_43066372delinsAGG | CA2579807283 | CBS | c.322_324delinsCCT (p.Lys108Pro) n.633_635delinsCCT n.765_767delinsCCT c.373_375delinsCCT (p.Lys125Pro) c.7_9delinsCCT (p.Lys3Pro) n.693_695delinsCCT n.472_474delinsCCT | |
| 21 | g.43066370_43066372delinsATA | CA2579807279 | CBS | c.322_324delinsTAT (p.Lys108Tyr) n.633_635delinsTAT n.765_767delinsTAT c.373_375delinsTAT (p.Lys125Tyr) c.7_9delinsTAT (p.Lys3Tyr) n.693_695delinsTAT n.472_474delinsTAT | |
| 21 | g.43066371T>A | CA410601949 | CBS | c.323A>T (p.Lys108Met) n.634A>T n.766A>T c.374A>T (p.Lys125Met) c.8A>T (p.Lys3Met) n.694A>T n.473A>T | |
| 21 | g.43066371T>C | CA410601950 | CBS | c.323A>G (p.Lys108Arg) n.634A>G n.766A>G c.374A>G (p.Lys125Arg) c.8A>G (p.Lys3Arg) n.694A>G n.473A>G | ClinVar dbSNP |
| 21 | g.43066371T>G | CA410601951 | CBS | c.323A>C (p.Lys108Thr) n.634A>C n.766A>C c.374A>C (p.Lys125Thr) c.8A>C (p.Lys3Thr) n.694A>C n.473A>C | |
| 21 | g.43066371_43066372delinsAA | CA2579807288 | CBS | c.322_323delinsTT (p.Lys108Leu) n.633_634delinsTT n.765_766delinsTT c.373_374delinsTT (p.Lys125Leu) c.7_8delinsTT (p.Lys3Leu) n.693_694delinsTT n.472_473delinsTT | |
| 21 | g.43066371_43066372delinsAC | CA2579807278 | CBS | c.322_323delinsGT (p.Lys108Val) n.633_634delinsGT n.765_766delinsGT c.373_374delinsGT (p.Lys125Val) c.7_8delinsGT (p.Lys3Val) n.693_694delinsGT n.472_473delinsGT | |
| 21 | g.43066371_43066372delinsAG | CA2579807286 | CBS | c.322_323delinsCT (p.Lys108Leu) n.633_634delinsCT n.765_766delinsCT c.373_374delinsCT (p.Lys125Leu) c.7_8delinsCT (p.Lys3Leu) n.693_694delinsCT n.472_473delinsCT | |
| 21 | g.43066371_43066372delinsCA | CA2579807280 | CBS | c.322_323delinsTG (p.Lys108Trp) n.633_634delinsTG n.765_766delinsTG c.373_374delinsTG (p.Lys125Trp) c.7_8delinsTG (p.Lys3Trp) n.693_694delinsTG n.472_473delinsTG | |
| 21 | g.43066371_43066372delinsCC | CA2579807292 | CBS | c.322_323delinsGG (p.Lys108Gly) n.633_634delinsGG n.765_766delinsGG c.373_374delinsGG (p.Lys125Gly) c.7_8delinsGG (p.Lys3Gly) n.693_694delinsGG n.472_473delinsGG | |
| 21 | g.43066371_43066372delinsCG | CA2579807291 | CBS | c.322_323delinsCG (p.Lys108Arg) n.633_634delinsCG n.765_766delinsCG c.373_374delinsCG (p.Lys125Arg) c.7_8delinsCG (p.Lys3Arg) n.693_694delinsCG n.472_473delinsCG | |
| 21 | g.43066371_43066372delinsGA | CA2579807282 | CBS | c.322_323delinsTC (p.Lys108Ser) n.633_634delinsTC n.765_766delinsTC c.373_374delinsTC (p.Lys125Ser) c.7_8delinsTC (p.Lys3Ser) n.693_694delinsTC n.472_473delinsTC | |
| 21 | g.43066371_43066372delinsGC | CA2579807293 | CBS | c.322_323delinsGC (p.Lys108Ala) n.633_634delinsGC n.765_766delinsGC c.373_374delinsGC (p.Lys125Ala) c.7_8delinsGC (p.Lys3Ala) n.693_694delinsGC n.472_473delinsGC | |
| 21 | g.43066372del | CA749580387 | CBS | c.323del (p.Lys108SerfsTer11) n.634del n.766del c.374del (p.Lys125SerfsTer11) c.8del (p.Lys3SerfsTer11) n.694del n.473del | ClinVar dbSNP gnomAD v4 |
| 21 | g.43066372T>A | CA410601952 | CBS | c.322A>T (p.Lys108Ter) n.633A>T n.765A>T c.373A>T (p.Lys125Ter) c.7A>T (p.Lys3Ter) n.693A>T n.472A>T | |
| 21 | g.43066372T>C | CA410601953 | CBS | c.322A>G (p.Lys108Glu) n.633A>G n.765A>G c.373A>G (p.Lys125Glu) c.7A>G (p.Lys3Glu) n.693A>G n.472A>G | |
| 21 | g.43066372T>G | CA410601954 | CBS | c.322A>C (p.Lys108Gln) n.633A>C n.765A>C c.373A>C (p.Lys125Gln) c.7A>C (p.Lys3Gln) n.693A>C n.472A>C | |
| 21 | g.43066373G>A | CA658799454 | CBS | c.321C>T (p.Ala107=) n.632C>T n.764C>T c.372C>T (p.Ala124=) c.6C>T (p.Ala2=) n.692C>T n.471C>T | ClinVar dbSNP |
| 21 | g.43066373G= | CA2391104189 | CBS | c.321C= (p.Ala107=) n.632C= n.764C= c.372C= (p.Ala124=) c.6C= (p.Ala2=) n.692C= n.471C= | |
| 21 | g.43066373_43066374delinsAA | CA2579813941 | CBS | c.320_321delinsTT (p.Ala107Val) n.631_632delinsTT n.763_764delinsTT c.371_372delinsTT (p.Ala124Val) c.5_6delinsTT (p.Ala2Val) n.691_692delinsTT n.470_471delinsTT | |
| 21 | g.43066373_43066374delinsAC | CA2579813339 | CBS | c.320_321delinsGT (p.Ala107Gly) n.631_632delinsGT n.763_764delinsGT c.371_372delinsGT (p.Ala124Gly) c.5_6delinsGT (p.Ala2Gly) n.691_692delinsGT n.470_471delinsGT | |
| 21 | g.43066373_43066374delinsCA | CA2579813330 | CBS | c.320_321delinsTG (p.Ala107Val) n.631_632delinsTG n.763_764delinsTG c.371_372delinsTG (p.Ala124Val) c.5_6delinsTG (p.Ala2Val) n.691_692delinsTG n.470_471delinsTG | |
| 21 | g.43066373_43066375delinsAAA | CA2579813334 | CBS | c.319_321delinsTTT (p.Ala107Phe) n.630_632delinsTTT n.762_764delinsTTT c.370_372delinsTTT (p.Ala124Phe) c.4_6delinsTTT (p.Ala2Phe) n.690_692delinsTTT n.469_471delinsTTT | |
| 21 | g.43066373_43066375delinsAAG | CA2579813337 | CBS | c.319_321delinsCTT (p.Ala107Leu) n.630_632delinsCTT n.762_764delinsCTT c.370_372delinsCTT (p.Ala124Leu) c.4_6delinsCTT (p.Ala2Leu) n.690_692delinsCTT n.469_471delinsCTT | |
| 21 | g.43066373_43066375delinsAAT | CA2579813338 | CBS | c.319_321delinsATT (p.Ala107Ile) n.630_632delinsATT n.762_764delinsATT c.370_372delinsATT (p.Ala124Ile) c.4_6delinsATT (p.Ala2Ile) n.690_692delinsATT n.469_471delinsATT | |
| 21 | g.43066373_43066375delinsACA | CA2579813340 | CBS | c.319_321delinsTGT (p.Ala107Cys) n.630_632delinsTGT n.762_764delinsTGT c.370_372delinsTGT (p.Ala124Cys) c.4_6delinsTGT (p.Ala2Cys) n.690_692delinsTGT n.469_471delinsTGT |