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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.
This migration is underway but taking longer than originally estimated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387123G>A | CA473515265 | KCNJ11 | c.708C>T (p.Asp236=) c.969C>T (p.Asp323=) n.1127C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387123G>C | CA379769593 | KCNJ11 | c.708C>G (p.Asp236Glu) c.969C>G (p.Asp323Glu) n.1127C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387123G= | CA1955119131 | KCNJ11 | c.708C= (p.Asp236=) c.969C= (p.Asp323=) n.1127C= | |
| 11 | g.17387123G>T | CA379769595 | KCNJ11 | c.708C>A (p.Asp236Glu) c.969C>A (p.Asp323Glu) n.1127C>A | dbSNP gnomAD v2 |
| 11 | g.17387123_17387126delinsGTCC | CA1955119130 | KCNJ11 | c.705_708delinsGGAC (p.Glu235=) c.966_969delinsGGAC (p.Glu322=) n.1124_1127delinsGGAC | |
| 11 | g.17387124T>A | CA379769599 | KCNJ11 | c.707A>T (p.Asp236Val) c.968A>T (p.Asp323Val) n.1126A>T | |
| 11 | g.17387124T>C | CA379769601 | KCNJ11 | c.707A>G (p.Asp236Gly) c.968A>G (p.Asp323Gly) n.1126A>G | ClinVar |
| 11 | g.17387124T>G | CA379769603 | KCNJ11 | c.707A>C (p.Asp236Ala) c.968A>C (p.Asp323Ala) n.1126A>C | |
| 11 | g.17387124T= | CA1955119132 | KCNJ11 | c.707A= (p.Asp236=) c.968A= (p.Asp323=) n.1126A= | |
| 11 | g.17387126_17387127insCGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCC | CA5902211 | KCNJ11 | c.707_708insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA (p.Asp236GlufsTer41) c.968_969insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA (p.Asp323GlufsTer41) n.1126_1127insGATGCCAGGGCTCCTGCCTTTTGCCACATCGGCCTCGGGA | dbSNP ExAC |
| 11 | g.17387129_17387131del | CA597904288 | KCNJ11 | c.705_707del (p.Glu235del) c.966_968del (p.Glu322del) n.1124_1126del | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387125C>A | CA379769605 | KCNJ11 | c.706G>T (p.Asp236Tyr) c.967G>T (p.Asp323Tyr) n.1125G>T | |
| 11 | g.17387125C>G | CA379769607 | KCNJ11 | c.706G>C (p.Asp236His) c.967G>C (p.Asp323His) n.1125G>C | |
| 11 | g.17387125C>T | CA379769609 | KCNJ11 | c.706G>A (p.Asp236Asn) c.967G>A (p.Asp323Asn) n.1125G>A | |
| 11 | g.17387126dup | CA658656123 | KCNJ11 | c.706dup (p.Asp236GlyfsTer28) c.967dup (p.Asp323GlyfsTer28) n.1125dup | ClinVar dbSNP |
| 11 | g.17387126C>A | CA379769611 | KCNJ11 | c.705G>T (p.Glu235Asp) c.966G>T (p.Glu322Asp) n.1124G>T | ClinVar gnomAD v4 |
| 11 | g.17387126C= | CA1955119133 | KCNJ11 | c.705G= (p.Glu235=) c.966G= (p.Glu322=) n.1124G= | |
| 11 | g.17387126C>G | CA379769613 | KCNJ11 | c.705G>C (p.Glu235Asp) c.966G>C (p.Glu322Asp) n.1124G>C | |
| 11 | g.17387126C>T | CA5902212 | KCNJ11 | c.705G>A (p.Glu235=) c.966G>A (p.Glu322=) n.1124G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387127T>A | CA379769617 | KCNJ11 | c.704A>T (p.Glu235Val) c.965A>T (p.Glu322Val) n.1123A>T | |
| 11 | g.17387127T>C | CA379769618 | KCNJ11 | c.704A>G (p.Glu235Gly) c.965A>G (p.Glu322Gly) n.1123A>G | |
| 11 | g.17387127T>G | CA379769616 | KCNJ11 | c.704A>C (p.Glu235Ala) c.965A>C (p.Glu322Ala) n.1123A>C | |
| 11 | g.17387128C>A | CA379769620 | KCNJ11 | c.703G>T (p.Glu235Ter) c.964G>T (p.Glu322Ter) n.1122G>T | |
| 11 | g.17387128C= | CA1955119134 | KCNJ11 | c.703G= (p.Glu235=) c.964G= (p.Glu322=) n.1122G= | |
| 11 | g.17387128C>G | CA379769622 | KCNJ11 | c.703G>C (p.Glu235Gln) c.964G>C (p.Glu322Gln) n.1122G>C | |
| 11 | g.17387128C>T | CA172352 | KCNJ11 | c.703G>A (p.Glu235Lys) c.964G>A (p.Glu322Lys) n.1122G>A | ClinVar dbSNP |
| 11 | g.17387129C>A | CA379769625 | KCNJ11 | c.702G>T (p.Glu234Asp) c.963G>T (p.Glu321Asp) n.1121G>T | |
| 11 | g.17387129C>G | CA379769627 | KCNJ11 | c.702G>C (p.Glu234Asp) c.963G>C (p.Glu321Asp) n.1121G>C | |
| 11 | g.17387129C>T | CA473515272 | KCNJ11 | c.702G>A (p.Glu234=) c.963G>A (p.Glu321=) n.1121G>A | gnomAD v4 |
| 11 | g.17387130T>A | CA379769634 | KCNJ11 | c.701A>T (p.Glu234Val) c.962A>T (p.Glu321Val) n.1120A>T | |
| 11 | g.17387130T>C | CA379769630 | KCNJ11 | c.701A>G (p.Glu234Gly) c.962A>G (p.Glu321Gly) n.1120A>G | |
| 11 | g.17387130T>G | CA379769632 | KCNJ11 | c.701A>C (p.Glu234Ala) c.962A>C (p.Glu321Ala) n.1120A>C | |
| 11 | g.17387131C>A | CA379769636 | KCNJ11 | c.700G>T (p.Glu234Ter) c.961G>T (p.Glu321Ter) n.1119G>T | |
| 11 | g.17387131C>G | CA379769638 | KCNJ11 | c.700G>C (p.Glu234Gln) c.961G>C (p.Glu321Gln) n.1119G>C | |
| 11 | g.17387131C>T | CA379769639 | KCNJ11 | c.700G>A (p.Glu234Lys) c.961G>A (p.Glu321Lys) n.1119G>A | |
| 11 | g.17387132A>C | CA473515276 | KCNJ11 | c.699T>G (p.Ala233=) c.960T>G (p.Ala320=) n.1118T>G | |
| 11 | g.17387132A>G | CA473515277 | KCNJ11 | c.699T>C (p.Ala233=) c.960T>C (p.Ala320=) n.1118T>C | |
| 11 | g.17387132A>T | CA473515278 | KCNJ11 | c.699T>A (p.Ala233=) c.960T>A (p.Ala320=) n.1118T>A | |
| 11 | g.17387133G>A | CA379769642 | KCNJ11 | c.698C>T (p.Ala233Val) c.959C>T (p.Ala320Val) n.1117C>T | |
| 11 | g.17387133G>C | CA379769643 | KCNJ11 | c.698C>G (p.Ala233Gly) c.959C>G (p.Ala320Gly) n.1117C>G | gnomAD v4 |
| 11 | g.17387133G>T | CA379769646 | KCNJ11 | c.698C>A (p.Ala233Asp) c.959C>A (p.Ala320Asp) n.1117C>A | |
| 11 | g.17387134C>A | CA379769652 | KCNJ11 | c.697G>T (p.Ala233Ser) c.958G>T (p.Ala320Ser) n.1116G>T | |
| 11 | g.17387134C>G | CA379769650 | KCNJ11 | c.697G>C (p.Ala233Pro) c.958G>C (p.Ala320Pro) n.1116G>C | |
| 11 | g.17387134C>T | CA379769648 | KCNJ11 | c.697G>A (p.Ala233Thr) c.958G>A (p.Ala320Thr) n.1116G>A | |
| 11 | g.17387135T>A | CA473515283 | KCNJ11 | c.696A>T (p.Val232=) c.957A>T (p.Val319=) n.1115A>T | |
| 11 | g.17387135T>C | CA473515284 | KCNJ11 | c.696A>G (p.Val232=) c.957A>G (p.Val319=) n.1115A>G | |
| 11 | g.17387135T>G | CA473515285 | KCNJ11 | c.696A>C (p.Val232=) c.957A>C (p.Val319=) n.1115A>C | |
| 11 | g.17387136A>C | CA379769654 | KCNJ11 | c.695T>G (p.Val232Gly) c.956T>G (p.Val319Gly) n.1114T>G | |
| 11 | g.17387136A>G | CA379769657 | KCNJ11 | c.695T>C (p.Val232Ala) c.956T>C (p.Val319Ala) n.1114T>C | |
| 11 | g.17387136A>T | CA379769656 | KCNJ11 | c.695T>A (p.Val232Glu) c.956T>A (p.Val319Glu) n.1114T>A |