SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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 |
|---|---|---|---|---|---|
| 11 | g.66211206C>A | CA475300343 | PACS1 | c.607C>A (p.Arg203=) n.731C>A c.313C>A (p.Arg105=) c.298C>A (p.Arg100=) c.286C>A (p.Arg96=) c.277C>A (p.Arg93=) c.268C>A (p.Arg90=) n.818C>A | |
| 11 | g.66211206C= | CA1979579370 | PACS1 | c.607C= (p.Arg203=) n.731C= c.313C= (p.Arg105=) c.298C= (p.Arg100=) c.286C= (p.Arg96=) c.277C= (p.Arg93=) c.268C= (p.Arg90=) n.818C= | |
| 11 | g.66211206C>G | CA381342398 | PACS1 | c.607C>G (p.Arg203Gly) n.731C>G c.313C>G (p.Arg105Gly) c.298C>G (p.Arg100Gly) c.286C>G (p.Arg96Gly) c.277C>G (p.Arg93Gly) c.268C>G (p.Arg90Gly) n.818C>G | |
| 11 | g.66211206C>T | CA204795 | PACS1 | c.607C>T (p.Arg203Trp) n.731C>T c.313C>T (p.Arg105Trp) c.298C>T (p.Arg100Trp) c.286C>T (p.Arg96Trp) c.277C>T (p.Arg93Trp) c.268C>T (p.Arg90Trp) n.818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66211207G>A | CA381342426 | PACS1 | c.608G>A (p.Arg203Gln) n.732G>A c.314G>A (p.Arg105Gln) c.299G>A (p.Arg100Gln) c.287G>A (p.Arg96Gln) c.278G>A (p.Arg93Gln) c.269G>A (p.Arg90Gln) n.819G>A | dbSNP |
| 11 | g.66211207G>C | CA381342441 | PACS1 | c.608G>C (p.Arg203Pro) n.732G>C c.314G>C (p.Arg105Pro) c.299G>C (p.Arg100Pro) c.287G>C (p.Arg96Pro) c.278G>C (p.Arg93Pro) c.269G>C (p.Arg90Pro) n.819G>C | |
| 11 | g.66211207G= | CA1979579376 | PACS1 | c.608G= (p.Arg203=) n.732G= c.314G= (p.Arg105=) c.299G= (p.Arg100=) c.287G= (p.Arg96=) c.278G= (p.Arg93=) c.269G= (p.Arg90=) n.819G= | |
| 11 | g.66211207G>T | CA381342447 | PACS1 | c.608G>T (p.Arg203Leu) n.732G>T c.314G>T (p.Arg105Leu) c.299G>T (p.Arg100Leu) c.287G>T (p.Arg96Leu) c.278G>T (p.Arg93Leu) c.269G>T (p.Arg90Leu) n.819G>T | |
| 11 | g.66211208G>A | CA475300370 | PACS1 | c.609G>A (p.Arg203=) n.733G>A c.315G>A (p.Arg105=) c.300G>A (p.Arg100=) c.288G>A (p.Arg96=) c.279G>A (p.Arg93=) c.270G>A (p.Arg90=) n.820G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66211208G>C | CA475300374 | PACS1 | c.609G>C (p.Arg203=) n.733G>C c.315G>C (p.Arg105=) c.300G>C (p.Arg100=) c.288G>C (p.Arg96=) c.279G>C (p.Arg93=) c.270G>C (p.Arg90=) n.820G>C | |
| 11 | g.66211208G= | CA1979579380 | PACS1 | c.609G= (p.Arg203=) n.733G= c.315G= (p.Arg105=) c.300G= (p.Arg100=) c.288G= (p.Arg96=) c.279G= (p.Arg93=) c.270G= (p.Arg90=) n.820G= | |
| 11 | g.66211208G>T | CA475300373 | PACS1 | c.609G>T (p.Arg203=) n.733G>T c.315G>T (p.Arg105=) c.300G>T (p.Arg100=) c.288G>T (p.Arg96=) c.279G>T (p.Arg93=) c.270G>T (p.Arg90=) n.820G>T | |
| 11 | g.66211209A>C | CA381342460 | PACS1 | c.610A>C (p.Thr204Pro) n.734A>C c.316A>C (p.Thr106Pro) c.301A>C (p.Thr101Pro) c.289A>C (p.Thr97Pro) c.280A>C (p.Thr94Pro) c.271A>C (p.Thr91Pro) n.821A>C | |
| 11 | g.66211209A>G | CA381342469 | PACS1 | c.610A>G (p.Thr204Ala) n.734A>G c.316A>G (p.Thr106Ala) c.301A>G (p.Thr101Ala) c.289A>G (p.Thr97Ala) c.280A>G (p.Thr94Ala) c.271A>G (p.Thr91Ala) n.821A>G | gnomAD v4 |
| 11 | g.66211209A>T | CA381342477 | PACS1 | c.610A>T (p.Thr204Ser) n.734A>T c.316A>T (p.Thr106Ser) c.301A>T (p.Thr101Ser) c.289A>T (p.Thr97Ser) c.280A>T (p.Thr94Ser) c.271A>T (p.Thr91Ser) n.821A>T | |
| 11 | g.66211210C>A | CA381342515 | PACS1 | c.611C>A (p.Thr204Asn) n.735C>A c.317C>A (p.Thr106Asn) c.302C>A (p.Thr101Asn) c.290C>A (p.Thr97Asn) c.281C>A (p.Thr94Asn) c.272C>A (p.Thr91Asn) n.822C>A | |
| 11 | g.66211210C>G | CA381342492 | PACS1 | c.611C>G (p.Thr204Ser) n.735C>G c.317C>G (p.Thr106Ser) c.302C>G (p.Thr101Ser) c.290C>G (p.Thr97Ser) c.281C>G (p.Thr94Ser) c.272C>G (p.Thr91Ser) n.822C>G | |
| 11 | g.66211210C>T | CA381342482 | PACS1 | c.611C>T (p.Thr204Ile) n.735C>T c.317C>T (p.Thr106Ile) c.302C>T (p.Thr101Ile) c.290C>T (p.Thr97Ile) c.281C>T (p.Thr94Ile) c.272C>T (p.Thr91Ile) n.822C>T | |
| 11 | g.66211211C>A | CA475300390 | PACS1 | c.612C>A (p.Thr204=) n.736C>A c.318C>A (p.Thr106=) c.303C>A (p.Thr101=) c.291C>A (p.Thr97=) c.282C>A (p.Thr94=) c.273C>A (p.Thr91=) n.823C>A | |
| 11 | g.66211211C>G | CA475300391 | PACS1 | c.612C>G (p.Thr204=) n.736C>G c.318C>G (p.Thr106=) c.303C>G (p.Thr101=) c.291C>G (p.Thr97=) c.282C>G (p.Thr94=) c.273C>G (p.Thr91=) n.823C>G | |
| 11 | g.66211211C>T | CA475300393 | PACS1 | c.612C>T (p.Thr204=) n.736C>T c.318C>T (p.Thr106=) c.303C>T (p.Thr101=) c.291C>T (p.Thr97=) c.282C>T (p.Thr94=) c.273C>T (p.Thr91=) n.823C>T | gnomAD v4 |
| 11 | g.66211212A>C | CA381342518 | PACS1 | c.613A>C (p.Ile205Leu) n.737A>C c.319A>C (p.Ile107Leu) c.304A>C (p.Ile102Leu) c.292A>C (p.Ile98Leu) c.283A>C (p.Ile95Leu) c.274A>C (p.Ile92Leu) n.824A>C | |
| 11 | g.66211212A>G | CA381342525 | PACS1 | c.613A>G (p.Ile205Val) n.737A>G c.319A>G (p.Ile107Val) c.304A>G (p.Ile102Val) c.292A>G (p.Ile98Val) c.283A>G (p.Ile95Val) c.274A>G (p.Ile92Val) n.824A>G | |
| 11 | g.66211212A>T | CA381342519 | PACS1 | c.613A>T (p.Ile205Phe) n.737A>T c.319A>T (p.Ile107Phe) c.304A>T (p.Ile102Phe) c.292A>T (p.Ile98Phe) c.283A>T (p.Ile95Phe) c.274A>T (p.Ile92Phe) n.824A>T | |
| 11 | g.66211213T>A | CA381342534 | PACS1 | c.614T>A (p.Ile205Asn) n.738T>A c.320T>A (p.Ile107Asn) c.305T>A (p.Ile102Asn) c.293T>A (p.Ile98Asn) c.284T>A (p.Ile95Asn) c.275T>A (p.Ile92Asn) n.825T>A | |
| 11 | g.66211213T>C | CA381342548 | PACS1 | c.614T>C (p.Ile205Thr) n.738T>C c.320T>C (p.Ile107Thr) c.305T>C (p.Ile102Thr) c.293T>C (p.Ile98Thr) c.284T>C (p.Ile95Thr) c.275T>C (p.Ile92Thr) n.825T>C | |
| 11 | g.66211213T>G | CA381342540 | PACS1 | c.614T>G (p.Ile205Ser) n.738T>G c.320T>G (p.Ile107Ser) c.305T>G (p.Ile102Ser) c.293T>G (p.Ile98Ser) c.284T>G (p.Ile95Ser) c.275T>G (p.Ile92Ser) n.825T>G | |
| 11 | g.66211214C>A | CA475300430 | PACS1 | c.615C>A (p.Ile205=) n.739C>A c.321C>A (p.Ile107=) c.306C>A (p.Ile102=) c.294C>A (p.Ile98=) c.285C>A (p.Ile95=) c.276C>A (p.Ile92=) n.826C>A | |
| 11 | g.66211214C= | CA1979579383 | PACS1 | c.615C= (p.Ile205=) n.739C= c.321C= (p.Ile107=) c.306C= (p.Ile102=) c.294C= (p.Ile98=) c.285C= (p.Ile95=) c.276C= (p.Ile92=) n.826C= | |
| 11 | g.66211214C>G | CA381342550 | PACS1 | c.615C>G (p.Ile205Met) n.739C>G c.321C>G (p.Ile107Met) c.306C>G (p.Ile102Met) c.294C>G (p.Ile98Met) c.285C>G (p.Ile95Met) c.276C>G (p.Ile92Met) n.826C>G | gnomAD v4 |
| 11 | g.66211214C>T | CA6116292 | PACS1 | c.615C>T (p.Ile205=) n.739C>T c.321C>T (p.Ile107=) c.306C>T (p.Ile102=) c.294C>T (p.Ile98=) c.285C>T (p.Ile95=) c.276C>T (p.Ile92=) n.826C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66211215T>A | CA381342552 | PACS1 | c.616T>A (p.Leu206Met) n.740T>A c.322T>A (p.Leu108Met) c.307T>A (p.Leu103Met) c.295T>A (p.Leu99Met) c.286T>A (p.Leu96Met) c.277T>A (p.Leu93Met) n.827T>A | |
| 11 | g.66211215T>C | CA475300458 | PACS1 | c.616T>C (p.Leu206=) n.740T>C c.322T>C (p.Leu108=) c.307T>C (p.Leu103=) c.295T>C (p.Leu99=) c.286T>C (p.Leu96=) c.277T>C (p.Leu93=) n.827T>C | gnomAD v4 |
| 11 | g.66211215T>G | CA381342553 | PACS1 | c.616T>G (p.Leu206Val) n.740T>G c.322T>G (p.Leu108Val) c.307T>G (p.Leu103Val) c.295T>G (p.Leu99Val) c.286T>G (p.Leu96Val) c.277T>G (p.Leu93Val) n.827T>G | |
| 11 | g.66211216T>A | CA381342556 | PACS1 | c.617T>A (p.Leu206Ter) n.741T>A c.323T>A (p.Leu108Ter) c.308T>A (p.Leu103Ter) c.296T>A (p.Leu99Ter) c.287T>A (p.Leu96Ter) c.278T>A (p.Leu93Ter) n.828T>A | |
| 11 | g.66211216T>C | CA381342560 | PACS1 | c.617T>C (p.Leu206Ser) n.741T>C c.323T>C (p.Leu108Ser) c.308T>C (p.Leu103Ser) c.296T>C (p.Leu99Ser) c.287T>C (p.Leu96Ser) c.278T>C (p.Leu93Ser) n.828T>C | |
| 11 | g.66211216T>G | CA381342572 | PACS1 | c.617T>G (p.Leu206Trp) n.741T>G c.323T>G (p.Leu108Trp) c.308T>G (p.Leu103Trp) c.296T>G (p.Leu99Trp) c.287T>G (p.Leu96Trp) c.278T>G (p.Leu93Trp) n.828T>G | |
| 11 | g.66211217G>A | CA475300475 | PACS1 | c.618G>A (p.Leu206=) n.742G>A c.324G>A (p.Leu108=) c.309G>A (p.Leu103=) c.297G>A (p.Leu99=) c.288G>A (p.Leu96=) c.279G>A (p.Leu93=) n.829G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.66211217G>C | CA381342581 | PACS1 | c.618G>C (p.Leu206Phe) n.742G>C c.324G>C (p.Leu108Phe) c.309G>C (p.Leu103Phe) c.297G>C (p.Leu99Phe) c.288G>C (p.Leu96Phe) c.279G>C (p.Leu93Phe) n.829G>C | |
| 11 | g.66211217G= | CA1979579386 | PACS1 | c.618G= (p.Leu206=) n.742G= c.324G= (p.Leu108=) c.309G= (p.Leu103=) c.297G= (p.Leu99=) c.288G= (p.Leu96=) c.279G= (p.Leu93=) n.829G= | |
| 11 | g.66211217G>T | CA381342585 | PACS1 | c.618G>T (p.Leu206Phe) n.742G>T c.324G>T (p.Leu108Phe) c.309G>T (p.Leu103Phe) c.297G>T (p.Leu99Phe) c.288G>T (p.Leu96Phe) c.279G>T (p.Leu93Phe) n.829G>T | |
| 11 | g.66211218G>A | CA381342592 | PACS1 | c.619G>A (p.Gly207Ser) n.743G>A c.325G>A (p.Gly109Ser) c.310G>A (p.Gly104Ser) c.298G>A (p.Gly100Ser) c.289G>A (p.Gly97Ser) c.280G>A (p.Gly94Ser) n.830G>A | |
| 11 | g.66211218G>C | CA381342603 | PACS1 | c.619G>C (p.Gly207Arg) n.743G>C c.325G>C (p.Gly109Arg) c.310G>C (p.Gly104Arg) c.298G>C (p.Gly100Arg) c.289G>C (p.Gly97Arg) c.280G>C (p.Gly94Arg) n.830G>C | |
| 11 | g.66211218G>T | CA381342607 | PACS1 | c.619G>T (p.Gly207Cys) n.743G>T c.325G>T (p.Gly109Cys) c.310G>T (p.Gly104Cys) c.298G>T (p.Gly100Cys) c.289G>T (p.Gly97Cys) c.280G>T (p.Gly94Cys) n.830G>T | |
| 11 | g.66211219G>A | CA381342616 | PACS1 | c.620G>A (p.Gly207Asp) n.744G>A c.326G>A (p.Gly109Asp) c.311G>A (p.Gly104Asp) c.299G>A (p.Gly100Asp) c.290G>A (p.Gly97Asp) c.281G>A (p.Gly94Asp) n.831G>A | ClinVar |
| 11 | g.66211219G>C | CA381342623 | PACS1 | c.620G>C (p.Gly207Ala) n.744G>C c.326G>C (p.Gly109Ala) c.311G>C (p.Gly104Ala) c.299G>C (p.Gly100Ala) c.290G>C (p.Gly97Ala) c.281G>C (p.Gly94Ala) n.831G>C | |
| 11 | g.66211219G>T | CA381342628 | PACS1 | c.620G>T (p.Gly207Val) n.744G>T c.326G>T (p.Gly109Val) c.311G>T (p.Gly104Val) c.299G>T (p.Gly100Val) c.290G>T (p.Gly97Val) c.281G>T (p.Gly94Val) n.831G>T | |
| 11 | g.66211220C>A | CA475300506 | PACS1 | c.621C>A (p.Gly207=) n.745C>A c.327C>A (p.Gly109=) c.312C>A (p.Gly104=) c.300C>A (p.Gly100=) c.291C>A (p.Gly97=) c.282C>A (p.Gly94=) n.832C>A | |
| 11 | g.66211220C>G | CA475300513 | PACS1 | c.621C>G (p.Gly207=) n.745C>G c.327C>G (p.Gly109=) c.312C>G (p.Gly104=) c.300C>G (p.Gly100=) c.291C>G (p.Gly97=) c.282C>G (p.Gly94=) n.832C>G | gnomAD v4 |
| 11 | g.66211220C>T | CA475300509 | PACS1 | c.621C>T (p.Gly207=) n.745C>T c.327C>T (p.Gly109=) c.312C>T (p.Gly104=) c.300C>T (p.Gly100=) c.291C>T (p.Gly97=) c.282C>T (p.Gly94=) n.832C>T |