Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46709098_46709099insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA | CA2665467510 | TMIE | c.212-28_212-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA (n.212-28_212-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA) c.53-28_53-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA (n.53-28_53-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA) c.110-28_110-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA (n.110-28_110-27insAGGAATGGCATCTGCCTTCCTTGGGTCTCTGAACCCCAGCCCCA) | gnomAD v4 |
3 | g.46709075T>C | CA2357963 | TMIE | c.212-51T>C (n.212-51T>C) c.53-51T>C (n.53-51T>C) c.110-51T>C (n.110-51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709075T>G | CA1362234518 | TMIE | c.212-51T>G (n.212-51T>G) c.53-51T>G (n.53-51T>G) c.110-51T>G (n.110-51T>G) | dbSNP |
3 | g.46709075T= | CA1362234517 | TMIE | c.212-51T= (n.212-51T=) c.53-51T= (n.53-51T=) c.110-51T= (n.110-51T=) | |
3 | g.46709077G>A | CA2665467515 | TMIE | c.212-49G>A (n.212-49G>A) c.53-49G>A (n.53-49G>A) c.110-49G>A (n.110-49G>A) | gnomAD v4 |
3 | g.46709077G>T | CA2665467516 | TMIE | c.212-49G>T (n.212-49G>T) c.53-49G>T (n.53-49G>T) c.110-49G>T (n.110-49G>T) | gnomAD v4 |
3 | g.46709078G>C | CA907590248 | TMIE | c.212-48G>C (n.212-48G>C) c.53-48G>C (n.53-48G>C) c.110-48G>C (n.110-48G>C) | dbSNP |
3 | g.46709078G= | CA1362234519 | TMIE | c.212-48G= (n.212-48G=) c.53-48G= (n.53-48G=) c.110-48G= (n.110-48G=) | |
3 | g.46709079G>A | CA2577575632 | TMIE | c.212-47G>A (n.212-47G>A) c.53-47G>A (n.53-47G>A) c.110-47G>A (n.110-47G>A) | gnomAD v4 |
3 | g.46709083_46709084del | CA2577575633 | TMIE | c.212-43_212-42del (n.212-43_212-42del) c.53-43_53-42del (n.53-43_53-42del) c.110-43_110-42del (n.110-43_110-42del) | |
3 | g.46709081C>A | CA2665467517 | TMIE | c.212-45C>A (n.212-45C>A) c.53-45C>A (n.53-45C>A) c.110-45C>A (n.110-45C>A) | gnomAD v4 |
3 | g.46709081C>G | CA2547112050 | TMIE | c.212-45C>G (n.212-45C>G) c.53-45C>G (n.53-45C>G) c.110-45C>G (n.110-45C>G) | dbSNP |
3 | g.46709081C>T | CA2577575634 | TMIE | c.212-45C>T (n.212-45C>T) c.53-45C>T (n.53-45C>T) c.110-45C>T (n.110-45C>T) | |
3 | g.46709082T>A | CA542720914 | TMIE | c.212-44T>A (n.212-44T>A) c.53-44T>A (n.53-44T>A) c.110-44T>A (n.110-44T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709082T= | CA1362234520 | TMIE | c.212-44T= (n.212-44T=) c.53-44T= (n.53-44T=) c.110-44T= (n.110-44T=) | |
3 | g.46709082_46709083delinsTC | CA1362234521 | TMIE | c.212-44_212-43delinsTC (n.212-44_212-43delinsTC) c.53-44_53-43delinsTC (n.53-44_53-43delinsTC) c.110-44_110-43delinsTC (n.110-44_110-43delinsTC) | |
3 | g.46709083del | CA1362234522 | TMIE | c.212-43del (n.212-43del) c.53-43del (n.53-43del) c.110-43del (n.110-43del) | dbSNP gnomAD v4 |
3 | g.46709084T>C | CA907590251 | TMIE | c.212-42T>C (n.212-42T>C) c.53-42T>C (n.53-42T>C) c.110-42T>C (n.110-42T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709084T>G | CA2665467518 | TMIE | c.212-42T>G (n.212-42T>G) c.53-42T>G (n.53-42T>G) c.110-42T>G (n.110-42T>G) | gnomAD v4 |
3 | g.46709084T= | CA1362234523 | TMIE | c.212-42T= (n.212-42T=) c.53-42T= (n.53-42T=) c.110-42T= (n.110-42T=) | |
3 | g.46709085G>T | CA2665467519 | TMIE | c.212-41G>T (n.212-41G>T) c.53-41G>T (n.53-41G>T) c.110-41G>T (n.110-41G>T) | gnomAD v4 |
3 | g.46709087A= | CA1362234524 | TMIE | c.212-39A= (n.212-39A=) c.53-39A= (n.53-39A=) c.110-39A= (n.110-39A=) | |
3 | g.46709087A>C | CA73732715 | TMIE | c.212-39A>C (n.212-39A>C) c.53-39A>C (n.53-39A>C) c.110-39A>C (n.110-39A>C) | dbSNP gnomAD v4 |
3 | g.46709087A>G | CA73732720 | TMIE | c.212-39A>G (n.212-39A>G) c.53-39A>G (n.53-39A>G) c.110-39A>G (n.110-39A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709088C>A | CA2702558056 | TMIE | c.212-38C>A (n.212-38C>A) c.53-38C>A (n.53-38C>A) c.110-38C>A (n.110-38C>A) | dbSNP |
3 | g.46709088C= | CA1362234525 | TMIE | c.212-38C= (n.212-38C=) c.53-38C= (n.53-38C=) c.110-38C= (n.110-38C=) | |
3 | g.46709088C>G | CA2577575635 | TMIE | c.212-38C>G (n.212-38C>G) c.53-38C>G (n.53-38C>G) c.110-38C>G (n.110-38C>G) | |
3 | g.46709088C>T | CA542720915 | TMIE | c.212-38C>T (n.212-38C>T) c.53-38C>T (n.53-38C>T) c.110-38C>T (n.110-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709090_46709091dup | CA2665467520 | TMIE | c.212-36_212-35dup (n.212-36_212-35dup) c.53-36_53-35dup (n.53-36_53-35dup) c.110-36_110-35dup (n.110-36_110-35dup) | gnomAD v4 |
3 | g.46709089C= | CA1362234526 | TMIE | c.212-37C= (n.212-37C=) c.53-37C= (n.53-37C=) c.110-37C= (n.110-37C=) | |
3 | g.46709089C>G | CA2665467521 | TMIE | c.212-37C>G (n.212-37C>G) c.53-37C>G (n.53-37C>G) c.110-37C>G (n.110-37C>G) | gnomAD v4 |
3 | g.46709089C>T | CA542720916 | TMIE | c.212-37C>T (n.212-37C>T) c.53-37C>T (n.53-37C>T) c.110-37C>T (n.110-37C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709090C= | CA1362234527 | TMIE | c.212-36C= (n.212-36C=) c.53-36C= (n.53-36C=) c.110-36C= (n.110-36C=) | |
3 | g.46709090C>G | CA1362234528 | TMIE | c.212-36C>G (n.212-36C>G) c.53-36C>G (n.53-36C>G) c.110-36C>G (n.110-36C>G) | dbSNP gnomAD v4 |
3 | g.46709091C>A | CA2507782200 | TMIE | c.212-35C>A (n.212-35C>A) c.53-35C>A (n.53-35C>A) c.110-35C>A (n.110-35C>A) | gnomAD v4 |
3 | g.46709092A>C | CA2665467522 | TMIE | c.212-34A>C (n.212-34A>C) c.53-34A>C (n.53-34A>C) c.110-34A>C (n.110-34A>C) | gnomAD v4 |
3 | g.46709093G>A | CA907590260 | TMIE | c.212-33G>A (n.212-33G>A) c.53-33G>A (n.53-33G>A) c.110-33G>A (n.110-33G>A) | dbSNP |
3 | g.46709093G= | CA1362234529 | TMIE | c.212-33G= (n.212-33G=) c.53-33G= (n.53-33G=) c.110-33G= (n.110-33G=) | |
3 | g.46709094C>A | CA2665467523 | TMIE | c.212-32C>A (n.212-32C>A) c.53-32C>A (n.53-32C>A) c.110-32C>A (n.110-32C>A) | gnomAD v4 |
3 | g.46709094C>T | CA2665467524 | TMIE | c.212-32C>T (n.212-32C>T) c.53-32C>T (n.53-32C>T) c.110-32C>T (n.110-32C>T) | gnomAD v4 |
3 | g.46709097C= | CA1362234530 | TMIE | c.212-29C= (n.212-29C=) c.53-29C= (n.53-29C=) c.110-29C= (n.110-29C=) | |
3 | g.46709097C>T | CA542720918 | TMIE | c.212-29C>T (n.212-29C>T) c.53-29C>T (n.53-29C>T) c.110-29C>T (n.110-29C>T) | dbSNP gnomAD v2 |
3 | g.46709099G>A | CA2665467525 | TMIE | c.212-27G>A (n.212-27G>A) c.53-27G>A (n.53-27G>A) c.110-27G>A (n.110-27G>A) | gnomAD v4 |
3 | g.46709099G>C | CA2577575636 | TMIE | c.212-27G>C (n.212-27G>C) c.53-27G>C (n.53-27G>C) c.110-27G>C (n.110-27G>C) | |
3 | g.46709100C>A | CA1362234532 | TMIE | c.212-26C>A (n.212-26C>A) c.53-26C>A (n.53-26C>A) c.110-26C>A (n.110-26C>A) | dbSNP gnomAD v4 |
3 | g.46709100C= | CA1362234531 | TMIE | c.212-26C= (n.212-26C=) c.53-26C= (n.53-26C=) c.110-26C= (n.110-26C=) | |
3 | g.46709100C>T | CA2665467526 | TMIE | c.212-26C>T (n.212-26C>T) c.53-26C>T (n.53-26C>T) c.110-26C>T (n.110-26C>T) | gnomAD v4 |
3 | g.46709101C>T | CA2756105367 | TMIE | c.212-25C>T (n.212-25C>T) c.53-25C>T (n.53-25C>T) c.110-25C>T (n.110-25C>T) | |
3 | g.46709102A= | CA1362234533 | TMIE | c.212-24A= (n.212-24A=) c.53-24A= (n.53-24A=) c.110-24A= (n.110-24A=) | |
3 | g.46709102A>C | CA2665467527 | TMIE | c.212-24A>C (n.212-24A>C) c.53-24A>C (n.53-24A>C) c.110-24A>C (n.110-24A>C) | gnomAD v4 |
3 | g.46709102A>G | CA2357964 | TMIE | c.212-24A>G (n.212-24A>G) c.53-24A>G (n.53-24A>G) c.110-24A>G (n.110-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709104G>C | CA2665467528 | TMIE | c.212-22G>C (n.212-22G>C) c.53-22G>C (n.53-22G>C) c.110-22G>C (n.110-22G>C) | gnomAD v4 |
3 | g.46709105C>A | CA73732721 | TMIE | c.212-21C>A (n.212-21C>A) c.53-21C>A (n.53-21C>A) c.110-21C>A (n.110-21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709105C= | CA1362234534 | TMIE | c.212-21C= (n.212-21C=) c.53-21C= (n.53-21C=) c.110-21C= (n.110-21C=) | |
3 | g.46709105C>T | CA542720920 | TMIE | c.212-21C>T (n.212-21C>T) c.53-21C>T (n.53-21C>T) c.110-21C>T (n.110-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709106C= | CA1362234535 | TMIE | c.212-20C= (n.212-20C=) c.53-20C= (n.53-20C=) c.110-20C= (n.110-20C=) | |
3 | g.46709106C>T | CA1047527392 | TMIE | c.212-20C>T (n.212-20C>T) c.53-20C>T (n.53-20C>T) c.110-20C>T (n.110-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709107T>C | CA2357965 | TMIE | c.212-19T>C (n.212-19T>C) c.53-19T>C (n.53-19T>C) c.110-19T>C (n.110-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46709107T= | CA1362234536 | TMIE | c.212-19T= (n.212-19T=) c.53-19T= (n.53-19T=) c.110-19T= (n.110-19T=) | |
3 | g.46709108G>C | CA2665467529 | TMIE | c.212-18G>C (n.212-18G>C) c.53-18G>C (n.53-18G>C) c.110-18G>C (n.110-18G>C) | gnomAD v4 |
3 | g.46709109C= | CA1362234537 | TMIE | c.212-17C= (n.212-17C=) c.53-17C= (n.53-17C=) c.110-17C= (n.110-17C=) | |
3 | g.46709109C>G | CA2577575637 | TMIE | c.212-17C>G (n.212-17C>G) c.53-17C>G (n.53-17C>G) c.110-17C>G (n.110-17C>G) | gnomAD v4 |
3 | g.46709109C>T | CA2357966 | TMIE | c.212-17C>T (n.212-17C>T) c.53-17C>T (n.53-17C>T) c.110-17C>T (n.110-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709110T>C | CA73732723 | TMIE | c.212-16T>C (n.212-16T>C) c.53-16T>C (n.53-16T>C) c.110-16T>C (n.110-16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709110T= | CA1362234538 | TMIE | c.212-16T= (n.212-16T=) c.53-16T= (n.53-16T=) c.110-16T= (n.110-16T=) | |
3 | g.46709111C>T | CA2665467530 | TMIE | c.212-15C>T (n.212-15C>T) c.53-15C>T (n.53-15C>T) c.110-15C>T (n.110-15C>T) | gnomAD v4 |
3 | g.46709112T>C | CA2577575638 | TMIE | c.212-14T>C (n.212-14T>C) c.53-14T>C (n.53-14T>C) c.110-14T>C (n.110-14T>C) | gnomAD v4 |
3 | g.46709113G= | CA1362234539 | TMIE | c.212-13G= (n.212-13G=) c.53-13G= (n.53-13G=) c.110-13G= (n.110-13G=) | |
3 | g.46709113G>T | CA542720924 | TMIE | c.212-13G>T (n.212-13G>T) c.53-13G>T (n.53-13G>T) c.110-13G>T (n.110-13G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709116C= | CA1362234540 | TMIE | c.212-10C= (n.212-10C=) c.53-10C= (n.53-10C=) c.110-10C= (n.110-10C=) | |
3 | g.46709116C>T | CA73732724 | TMIE | c.212-10C>T (n.212-10C>T) c.53-10C>T (n.53-10C>T) c.110-10C>T (n.110-10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709117T>C | CA542720927 | TMIE | c.212-9T>C (n.212-9T>C) c.53-9T>C (n.53-9T>C) c.110-9T>C (n.110-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709117T= | CA1362234541 | TMIE | c.212-9T= (n.212-9T=) c.53-9T= (n.53-9T=) c.110-9T= (n.110-9T=) | |
3 | g.46709121T>C | CA1047527415 | TMIE | c.212-5T>C (n.212-5T>C) c.53-5T>C (n.53-5T>C) c.110-5T>C (n.110-5T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709121T= | CA1362234542 | TMIE | c.212-5T= (n.212-5T=) c.53-5T= (n.53-5T=) c.110-5T= (n.110-5T=) | |
3 | g.46709122A= | CA1362234543 | TMIE | c.212-4A= (n.212-4A=) c.53-4A= (n.53-4A=) c.110-4A= (n.110-4A=) | |
3 | g.46709122A>G | CA1362234544 | TMIE | c.212-4A>G (n.212-4A>G) c.53-4A>G (n.53-4A>G) c.110-4A>G (n.110-4A>G) | dbSNP gnomAD v4 |
3 | g.46709123C>T | CA2545353422 | TMIE | c.212-3C>T (n.212-3C>T) c.53-3C>T (n.53-3C>T) c.110-3C>T (n.110-3C>T) | gnomAD v4 |
3 | g.46709124A= | CA1362234545 | TMIE | c.212-2A= (n.212-2A=) c.53-2A= (n.53-2A=) c.110-2A= (n.110-2A=) | |
3 | g.46709124A>C | CA352480391 | TMIE | c.212-2A>C (n.212-2A>C) c.53-2A>C (n.53-2A>C) c.110-2A>C (n.110-2A>C) | |
3 | g.46709124A>G | CA352480399 | TMIE | c.212-2A>G (n.212-2A>G) c.53-2A>G (n.53-2A>G) c.110-2A>G (n.110-2A>G) | |
3 | g.46709124A>T | CA352480397 | TMIE | c.212-2A>T (n.212-2A>T) c.53-2A>T (n.53-2A>T) c.110-2A>T (n.110-2A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709125G>A | CA352480400 | TMIE | c.212-1G>A (n.212-1G>A) c.53-1G>A (n.53-1G>A) c.110-1G>A (n.110-1G>A) | |
3 | g.46709125G>C | CA352480401 | TMIE | c.212-1G>C (n.212-1G>C) c.53-1G>C (n.53-1G>C) c.110-1G>C (n.110-1G>C) | |
3 | g.46709125G>T | CA352480403 | TMIE | c.212-1G>T (n.212-1G>T) c.53-1G>T (n.53-1G>T) c.110-1G>T (n.110-1G>T) | |
3 | g.46709126T>A | CA352480406 | TMIE | c.212T>A (p.Ile71Asn) c.53T>A (p.Ile18Asn) c.110T>A (p.Ile37Asn) | |
3 | g.46709126T>C | CA352480408 | TMIE | c.212T>C (p.Ile71Thr) c.53T>C (p.Ile18Thr) c.110T>C (p.Ile37Thr) | |
3 | g.46709126T>G | CA352480410 | TMIE | c.212T>G (p.Ile71Ser) c.53T>G (p.Ile18Ser) c.110T>G (p.Ile37Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709126T= | CA1362234546 | TMIE | c.212T= (p.Ile71=) c.53T= (p.Ile18=) c.110T= (p.Ile37=) | |
3 | g.46709127C>A | CA433459069 | TMIE | c.213C>A (p.Ile71=) c.54C>A (p.Ile18=) c.111C>A (p.Ile37=) | |
3 | g.46709127C>G | CA352480413 | TMIE | c.213C>G (p.Ile71Met) c.54C>G (p.Ile18Met) c.111C>G (p.Ile37Met) | |
3 | g.46709127C>T | CA433459070 | TMIE | c.213C>T (p.Ile71=) c.54C>T (p.Ile18=) c.111C>T (p.Ile37=) | |
3 | g.46709128A>C | CA352480415 | TMIE | c.214A>C (p.Ile72Leu) c.55A>C (p.Ile19Leu) c.112A>C (p.Ile38Leu) | |
3 | g.46709128A>G | CA352480417 | TMIE | c.214A>G (p.Ile72Val) c.55A>G (p.Ile19Val) c.112A>G (p.Ile38Val) | |
3 | g.46709128A>T | CA352480418 | TMIE | c.214A>T (p.Ile72Phe) c.55A>T (p.Ile19Phe) c.112A>T (p.Ile38Phe) | gnomAD v4 |
3 | g.46709129T>A | CA352480420 | TMIE | c.215T>A (p.Ile72Asn) c.56T>A (p.Ile19Asn) c.113T>A (p.Ile38Asn) | |
3 | g.46709129T>C | CA352480423 | TMIE | c.215T>C (p.Ile72Thr) c.56T>C (p.Ile19Thr) c.113T>C (p.Ile38Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709129T>G | CA352480425 | TMIE | c.215T>G (p.Ile72Ser) c.56T>G (p.Ile19Ser) c.113T>G (p.Ile38Ser) | |
3 | g.46709129T= | CA1362234547 | TMIE | c.215T= (p.Ile72=) c.56T= (p.Ile19=) c.113T= (p.Ile38=) | |
3 | g.46709130C>A | CA433459072 | TMIE | c.216C>A (p.Ile72=) c.57C>A (p.Ile19=) c.114C>A (p.Ile38=) | |
3 | g.46709130C= | CA1362234548 | TMIE | c.216C= (p.Ile72=) c.57C= (p.Ile19=) c.114C= (p.Ile38=) | |
3 | g.46709130C>G | CA352480427 | TMIE | c.216C>G (p.Ile72Met) c.57C>G (p.Ile19Met) c.114C>G (p.Ile38Met) | |
3 | g.46709130C>T | CA2357967 | TMIE | c.216C>T (p.Ile72=) c.57C>T (p.Ile19=) c.114C>T (p.Ile38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46709131A>C | CA352480429 | TMIE | c.217A>C (p.Thr73Pro) c.58A>C (p.Thr20Pro) c.115A>C (p.Thr39Pro) | |
3 | g.46709131A>G | CA352480430 | TMIE | c.217A>G (p.Thr73Ala) c.58A>G (p.Thr20Ala) c.115A>G (p.Thr39Ala) | |
3 | g.46709131A>T | CA352480432 | TMIE | c.217A>T (p.Thr73Ser) c.58A>T (p.Thr20Ser) c.115A>T (p.Thr39Ser) | |
3 | g.46709132C>A | CA352480435 | TMIE | c.218C>A (p.Thr73Lys) c.59C>A (p.Thr20Lys) c.116C>A (p.Thr39Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709132C= | CA1362234549 | TMIE | c.218C= (p.Thr73=) c.59C= (p.Thr20=) c.116C= (p.Thr39=) | |
3 | g.46709132C>G | CA352480437 | TMIE | c.218C>G (p.Thr73Arg) c.59C>G (p.Thr20Arg) c.116C>G (p.Thr39Arg) | gnomAD v4 |
3 | g.46709132C>T | CA2357968 | TMIE | c.218C>T (p.Thr73Met) c.59C>T (p.Thr20Met) c.116C>T (p.Thr39Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46709133G>A | CA2357969 | TMIE | c.219G>A (p.Thr73=) c.60G>A (p.Thr20=) c.117G>A (p.Thr39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46709133G>C | CA433459073 | TMIE | c.219G>C (p.Thr73=) c.60G>C (p.Thr20=) c.117G>C (p.Thr39=) | dbSNP gnomAD v2 |
3 | g.46709133G= | CA1362234550 | TMIE | c.219G= (p.Thr73=) c.60G= (p.Thr20=) c.117G= (p.Thr39=) | |
3 | g.46709133G>T | CA2357970 | TMIE | c.219G>T (p.Thr73=) c.60G>T (p.Thr20=) c.117G>T (p.Thr39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46709134C>A | CA352480444 | TMIE | c.220C>A (p.Leu74Met) c.61C>A (p.Leu21Met) c.118C>A (p.Leu40Met) | |
3 | g.46709134C>G | CA352480447 | TMIE | c.220C>G (p.Leu74Val) c.61C>G (p.Leu21Val) c.118C>G (p.Leu40Val) | |
3 | g.46709134C>T | CA433459074 | TMIE | c.220C>T (p.Leu74=) c.61C>T (p.Leu21=) c.118C>T (p.Leu40=) | |
3 | g.46709135T>A | CA352480454 | TMIE | c.221T>A (p.Leu74Gln) c.62T>A (p.Leu21Gln) c.119T>A (p.Leu40Gln) | |
3 | g.46709135T>C | CA352480452 | TMIE | c.221T>C (p.Leu74Pro) c.62T>C (p.Leu21Pro) c.119T>C (p.Leu40Pro) | |
3 | g.46709135T>G | CA352480451 | TMIE | c.221T>G (p.Leu74Arg) c.62T>G (p.Leu21Arg) c.119T>G (p.Leu40Arg) | |
3 | g.46709136G>A | CA433459075 | TMIE | c.222G>A (p.Leu74=) c.63G>A (p.Leu21=) c.120G>A (p.Leu40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709136G>C | CA433459076 | TMIE | c.222G>C (p.Leu74=) c.63G>C (p.Leu21=) c.120G>C (p.Leu40=) | |
3 | g.46709136G= | CA1362234551 | TMIE | c.222G= (p.Leu74=) c.63G= (p.Leu21=) c.120G= (p.Leu40=) | |
3 | g.46709136G>T | CA433459077 | TMIE | c.222G>T (p.Leu74=) c.63G>T (p.Leu21=) c.120G>T (p.Leu40=) | |
3 | g.46709137T>A | CA352480455 | TMIE | c.223T>A (p.Cys75Ser) c.64T>A (p.Cys22Ser) c.121T>A (p.Cys41Ser) | |
3 | g.46709137T>C | CA352480458 | TMIE | c.223T>C (p.Cys75Arg) c.64T>C (p.Cys22Arg) c.121T>C (p.Cys41Arg) | |
3 | g.46709137T>G | CA352480463 | TMIE | c.223T>G (p.Cys75Gly) c.64T>G (p.Cys22Gly) c.121T>G (p.Cys41Gly) | |
3 | g.46709138G>A | CA352480466 | TMIE | c.224G>A (p.Cys75Tyr) c.65G>A (p.Cys22Tyr) c.122G>A (p.Cys41Tyr) | |
3 | g.46709138G>C | CA352480468 | TMIE | c.224G>C (p.Cys75Ser) c.65G>C (p.Cys22Ser) c.122G>C (p.Cys41Ser) | |
3 | g.46709138G>T | CA352480470 | TMIE | c.224G>T (p.Cys75Phe) c.65G>T (p.Cys22Phe) c.122G>T (p.Cys41Phe) | |
3 | g.46709139C>A | CA352480475 | TMIE | c.225C>A (p.Cys75Ter) c.66C>A (p.Cys22Ter) c.123C>A (p.Cys41Ter) | |
3 | g.46709139C>G | CA352480477 | TMIE | c.225C>G (p.Cys75Trp) c.66C>G (p.Cys22Trp) c.123C>G (p.Cys41Trp) | |
3 | g.46709139C>T | CA433459079 | TMIE | c.225C>T (p.Cys75=) c.66C>T (p.Cys22=) c.123C>T (p.Cys41=) | |
3 | g.46709140T>A | CA352480481 | TMIE | c.226T>A (p.Cys76Ser) c.67T>A (p.Cys23Ser) c.124T>A (p.Cys42Ser) | |
3 | g.46709140T>C | CA352480483 | TMIE | c.226T>C (p.Cys76Arg) c.67T>C (p.Cys23Arg) c.124T>C (p.Cys42Arg) | |
3 | g.46709140T>G | CA352480484 | TMIE | c.226T>G (p.Cys76Gly) c.67T>G (p.Cys23Gly) c.124T>G (p.Cys42Gly) | |
3 | g.46709143_46709144del | CA2577575639 | TMIE | c.229_230del (p.Val77LeufsTer?) c.70_71del (p.Val24LeufsTer?) c.127_128del (p.Val43LeufsTer?) | gnomAD v3 gnomAD v4 |
3 | g.46709141G>A | CA73732734 | TMIE | c.227G>A (p.Cys76Tyr) c.68G>A (p.Cys23Tyr) c.125G>A (p.Cys42Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709141G>C | CA352480487 | TMIE | c.227G>C (p.Cys76Ser) c.68G>C (p.Cys23Ser) c.125G>C (p.Cys42Ser) | |
3 | g.46709141G= | CA1362234552 | TMIE | c.227G= (p.Cys76=) c.68G= (p.Cys23=) c.125G= (p.Cys42=) | |
3 | g.46709141G>T | CA352480489 | TMIE | c.227G>T (p.Cys76Phe) c.68G>T (p.Cys23Phe) c.125G>T (p.Cys42Phe) | |
3 | g.46709142T>A | CA352480491 | TMIE | c.228T>A (p.Cys76Ter) c.69T>A (p.Cys23Ter) c.126T>A (p.Cys42Ter) | |
3 | g.46709142T>C | CA433459081 | TMIE | c.228T>C (p.Cys76=) c.69T>C (p.Cys23=) c.126T>C (p.Cys42=) | |
3 | g.46709142T>G | CA352480492 | TMIE | c.228T>G (p.Cys76Trp) c.69T>G (p.Cys23Trp) c.126T>G (p.Cys42Trp) | |
3 | g.46709143G>A | CA352480494 | TMIE | c.229G>A (p.Val77Ile) c.70G>A (p.Val24Ile) c.127G>A (p.Val43Ile) | |
3 | g.46709143G>C | CA352480497 | TMIE | c.229G>C (p.Val77Leu) c.70G>C (p.Val24Leu) c.127G>C (p.Val43Leu) | gnomAD v4 |
3 | g.46709143G>T | CA352480499 | TMIE | c.229G>T (p.Val77Phe) c.70G>T (p.Val24Phe) c.127G>T (p.Val43Phe) | |
3 | g.46709143_46709146delinsGTCT | CA1362234553 | TMIE | c.229_232delinsGTCT (p.Val77=) c.70_73delinsGTCT (p.Val24=) c.127_130delinsGTCT (p.Val43=) | |
3 | g.46709144T>A | CA352480502 | TMIE | c.230T>A (p.Val77Asp) c.71T>A (p.Val24Asp) c.128T>A (p.Val43Asp) | |
3 | g.46709144T>C | CA352480504 | TMIE | c.230T>C (p.Val77Ala) c.71T>C (p.Val24Ala) c.128T>C (p.Val43Ala) | |
3 | g.46709144T>G | CA352480506 | TMIE | c.230T>G (p.Val77Gly) c.71T>G (p.Val24Gly) c.128T>G (p.Val43Gly) | |
3 | g.46709146_46709148dup | CA2577575640 | TMIE | c.232_234dup (p.Phe78_Asn79insPhe) c.73_75dup (p.Phe25_Asn26insPhe) c.130_132dup (p.Phe44_Asn45insPhe) | |
3 | g.46709146_46709148del | CA543041653 | TMIE | c.232_234del (p.Phe78del) c.73_75del (p.Phe25del) c.130_132del (p.Phe44del) | dbSNP gnomAD v2 |
3 | g.46709145C>A | CA433459083 | TMIE | c.231C>A (p.Val77=) c.72C>A (p.Val24=) c.129C>A (p.Val43=) | |
3 | g.46709145C>G | CA433459085 | TMIE | c.231C>G (p.Val77=) c.72C>G (p.Val24=) c.129C>G (p.Val43=) | |
3 | g.46709145C>T | CA433459084 | TMIE | c.231C>T (p.Val77=) c.72C>T (p.Val24=) c.129C>T (p.Val43=) | |
3 | g.46709146T>A | CA352480509 | TMIE | c.232T>A (p.Phe78Ile) c.73T>A (p.Phe25Ile) c.130T>A (p.Phe44Ile) | |
3 | g.46709146T>C | CA352480512 | TMIE | c.232T>C (p.Phe78Leu) c.73T>C (p.Phe25Leu) c.130T>C (p.Phe44Leu) | |
3 | g.46709146T>G | CA352480514 | TMIE | c.232T>G (p.Phe78Val) c.73T>G (p.Phe25Val) c.130T>G (p.Phe44Val) | |
3 | g.46709147T>A | CA352480516 | TMIE | c.233T>A (p.Phe78Tyr) c.74T>A (p.Phe25Tyr) c.131T>A (p.Phe44Tyr) | |
3 | g.46709147T>C | CA352480518 | TMIE | c.233T>C (p.Phe78Ser) c.74T>C (p.Phe25Ser) c.131T>C (p.Phe44Ser) | |
3 | g.46709147T>G | CA352480520 | TMIE | c.233T>G (p.Phe78Cys) c.74T>G (p.Phe25Cys) c.131T>G (p.Phe44Cys) | |
3 | g.46709148C>A | CA352480525 | TMIE | c.234C>A (p.Phe78Leu) c.75C>A (p.Phe25Leu) c.132C>A (p.Phe44Leu) | |
3 | g.46709148C>G | CA352480523 | TMIE | c.234C>G (p.Phe78Leu) c.75C>G (p.Phe25Leu) c.132C>G (p.Phe44Leu) | |
3 | g.46709148C>T | CA433459087 | TMIE | c.234C>T (p.Phe78=) c.75C>T (p.Phe25=) c.132C>T (p.Phe44=) | |
3 | g.46709149A>C | CA352480529 | TMIE | c.235A>C (p.Asn79His) c.76A>C (p.Asn26His) c.133A>C (p.Asn45His) | |
3 | g.46709149A>G | CA352480534 | TMIE | c.235A>G (p.Asn79Asp) c.76A>G (p.Asn26Asp) c.133A>G (p.Asn45Asp) | |
3 | g.46709149A>T | CA352480531 | TMIE | c.235A>T (p.Asn79Tyr) c.76A>T (p.Asn26Tyr) c.133A>T (p.Asn45Tyr) | |
3 | g.46709150A= | CA1362234554 | TMIE | c.236A= (p.Asn79=) c.77A= (p.Asn26=) c.134A= (p.Asn45=) | |
3 | g.46709150A>C | CA352480536 | TMIE | c.236A>C (p.Asn79Thr) c.77A>C (p.Asn26Thr) c.134A>C (p.Asn45Thr) | gnomAD v4 |
3 | g.46709150A>G | CA352480539 | TMIE | c.236A>G (p.Asn79Ser) c.77A>G (p.Asn26Ser) c.134A>G (p.Asn45Ser) | dbSNP gnomAD v4 |
3 | g.46709150A>T | CA352480541 | TMIE | c.236A>T (p.Asn79Ile) c.77A>T (p.Asn26Ile) c.134A>T (p.Asn45Ile) | |
3 | g.46709151C>A | CA352480544 | TMIE | c.237C>A (p.Asn79Lys) c.78C>A (p.Asn26Lys) c.135C>A (p.Asn45Lys) | |
3 | g.46709151C>G | CA352480546 | TMIE | c.237C>G (p.Asn79Lys) c.78C>G (p.Asn26Lys) c.135C>G (p.Asn45Lys) | |
3 | g.46709151C>T | CA433459088 | TMIE | c.237C>T (p.Asn79=) c.78C>T (p.Asn26=) c.135C>T (p.Asn45=) | |
3 | g.46709152T>A | CA352480550 | TMIE | c.238T>A (p.Cys80Ser) c.79T>A (p.Cys27Ser) c.136T>A (p.Cys46Ser) | |
3 | g.46709152T>C | CA352480552 | TMIE | c.238T>C (p.Cys80Arg) c.79T>C (p.Cys27Arg) c.136T>C (p.Cys46Arg) | |
3 | g.46709152T>G | CA352480553 | TMIE | c.238T>G (p.Cys80Gly) c.79T>G (p.Cys27Gly) c.136T>G (p.Cys46Gly) | |
3 | g.46709153G>A | CA352480555 | TMIE | c.239G>A (p.Cys80Tyr) c.80G>A (p.Cys27Tyr) c.137G>A (p.Cys46Tyr) | |
3 | g.46709153G>C | CA352480557 | TMIE | c.239G>C (p.Cys80Ser) c.80G>C (p.Cys27Ser) c.137G>C (p.Cys46Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46709153G= | CA1362234555 | TMIE | c.239G= (p.Cys80=) c.80G= (p.Cys27=) c.137G= (p.Cys46=) | |
3 | g.46709153G>T | CA352480560 | TMIE | c.239G>T (p.Cys80Phe) c.80G>T (p.Cys27Phe) c.137G>T (p.Cys46Phe) | |
3 | g.46709154T>A | CA352480565 | TMIE | c.240T>A (p.Cys80Ter) c.81T>A (p.Cys27Ter) c.138T>A (p.Cys46Ter) | |
3 | g.46709154T>C | CA433459090 | TMIE | c.240T>C (p.Cys80=) c.81T>C (p.Cys27=) c.138T>C (p.Cys46=) | |
3 | g.46709154T>G | CA352480563 | TMIE | c.240T>G (p.Cys80Trp) c.81T>G (p.Cys27Trp) c.138T>G (p.Cys46Trp) | |
3 | g.46709155C>A | CA352480567 | TMIE | c.241C>A (p.Arg81Ser) c.82C>A (p.Arg28Ser) c.139C>A (p.Arg47Ser) | |
3 | g.46709155C= | CA1362234556 | TMIE | c.241C= (p.Arg81=) c.82C= (p.Arg28=) c.139C= (p.Arg47=) | |
3 | g.46709155C>G | CA352480570 | TMIE | c.241C>G (p.Arg81Gly) c.82C>G (p.Arg28Gly) c.139C>G (p.Arg47Gly) | |
3 | g.46709155C>T | CA252745 | TMIE | c.241C>T (p.Arg81Cys) c.82C>T (p.Arg28Cys) c.139C>T (p.Arg47Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.46709156G>A | CA2357971 | TMIE | c.242G>A (p.Arg81His) c.83G>A (p.Arg28His) c.140G>A (p.Arg47His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709156G>C | CA352480572 | TMIE | c.242G>C (p.Arg81Pro) c.83G>C (p.Arg28Pro) c.140G>C (p.Arg47Pro) | |
3 | g.46709156G= | CA1362234557 | TMIE | c.242G= (p.Arg81=) c.83G= (p.Arg28=) c.140G= (p.Arg47=) | |
3 | g.46709156G>T | CA352480574 | TMIE | c.242G>T (p.Arg81Leu) c.83G>T (p.Arg28Leu) c.140G>T (p.Arg47Leu) | |
3 | g.46709157T>A | CA433459093 | TMIE | c.243T>A (p.Arg81=) c.84T>A (p.Arg28=) c.141T>A (p.Arg47=) | |
3 | g.46709157T>C | CA433459094 | TMIE | c.243T>C (p.Arg81=) c.84T>C (p.Arg28=) c.141T>C (p.Arg47=) | |
3 | g.46709157T>G | CA433459095 | TMIE | c.243T>G (p.Arg81=) c.84T>G (p.Arg28=) c.141T>G (p.Arg47=) | |
3 | g.46709158G>A | CA352480577 | TMIE | c.244G>A (p.Val82Met) c.85G>A (p.Val29Met) c.142G>A (p.Val48Met) | gnomAD v4 |
3 | g.46709158G>C | CA352480578 | TMIE | c.244G>C (p.Val82Leu) c.85G>C (p.Val29Leu) c.142G>C (p.Val48Leu) | |
3 | g.46709158G>T | CA352480581 | TMIE | c.244G>T (p.Val82Leu) c.85G>T (p.Val29Leu) c.142G>T (p.Val48Leu) | |
3 | g.46709159T>A | CA352480586 | TMIE | c.245T>A (p.Val82Glu) c.86T>A (p.Val29Glu) c.143T>A (p.Val48Glu) | |
3 | g.46709159T>C | CA352480587 | TMIE | c.245T>C (p.Val82Ala) c.86T>C (p.Val29Ala) c.143T>C (p.Val48Ala) | gnomAD v4 |
3 | g.46709159T>G | CA352480588 | TMIE | c.245T>G (p.Val82Gly) c.86T>G (p.Val29Gly) c.143T>G (p.Val48Gly) | |
3 | g.46709160G>A | CA433459098 | TMIE | c.246G>A (p.Val82=) c.87G>A (p.Val29=) c.144G>A (p.Val48=) | gnomAD v4 |
3 | g.46709160G>C | CA433459100 | TMIE | c.246G>C (p.Val82=) c.87G>C (p.Val29=) c.144G>C (p.Val48=) | |
3 | g.46709160G>T | CA433459099 | TMIE | c.246G>T (p.Val82=) c.87G>T (p.Val29=) c.144G>T (p.Val48=) | |
3 | g.46709161C>A | CA352480593 | TMIE | c.247C>A (p.Pro83Thr) c.88C>A (p.Pro30Thr) c.145C>A (p.Pro49Thr) | |
3 | g.46709161C= | CA1362234558 | TMIE | c.247C= (p.Pro83=) c.88C= (p.Pro30=) c.145C= (p.Pro49=) | |
3 | g.46709161C>G | CA352480594 | TMIE | c.247C>G (p.Pro83Ala) c.88C>G (p.Pro30Ala) c.145C>G (p.Pro49Ala) | |
3 | g.46709161C>T | CA10576623 | TMIE | c.247C>T (p.Pro83Ser) c.88C>T (p.Pro30Ser) c.145C>T (p.Pro49Ser) | ClinVar dbSNP |
3 | g.46709162C>A | CA352480596 | TMIE | c.248C>A (p.Pro83Gln) c.89C>A (p.Pro30Gln) c.146C>A (p.Pro49Gln) | |
3 | g.46709162C>G | CA352480599 | TMIE | c.248C>G (p.Pro83Arg) c.89C>G (p.Pro30Arg) c.146C>G (p.Pro49Arg) | |
3 | g.46709162C>T | CA352480600 | TMIE | c.248C>T (p.Pro83Leu) c.89C>T (p.Pro30Leu) c.146C>T (p.Pro49Leu) | |
3 | g.46709163A>C | CA433459101 | TMIE | c.249A>C (p.Pro83=) c.90A>C (p.Pro30=) c.147A>C (p.Pro49=) | |
3 | g.46709163A>G | CA433459102 | TMIE | c.249A>G (p.Pro83=) c.90A>G (p.Pro30=) c.147A>G (p.Pro49=) | gnomAD v4 |
3 | g.46709163A>T | CA433459103 | TMIE | c.249A>T (p.Pro83=) c.90A>T (p.Pro30=) c.147A>T (p.Pro49=) | |
3 | g.46709163_46709164delinsAC | CA1362234559 | TMIE | c.249_250delinsAC (p.Pro83=) c.90_91delinsAC (p.Pro30=) c.147_148delinsAC (p.Pro49=) | |
3 | g.46709164del | CA2357972 | TMIE | c.250del (p.Arg84GlyfsTer?) c.91del (p.Arg31GlyfsTer?) c.148del (p.Arg50GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46709164C>A | CA433459105 | TMIE | c.250C>A (p.Arg84=) c.91C>A (p.Arg31=) c.148C>A (p.Arg50=) | |
3 | g.46709164C= | CA1362234560 | TMIE | c.250C= (p.Arg84=) c.91C= (p.Arg31=) c.148C= (p.Arg50=) | |
3 | g.46709164C>G | CA352480602 | TMIE | c.250C>G (p.Arg84Gly) c.91C>G (p.Arg31Gly) c.148C>G (p.Arg50Gly) | |
3 | g.46709164C>T | CA252746 | TMIE | c.250C>T (p.Arg84Trp) c.91C>T (p.Arg31Trp) c.148C>T (p.Arg50Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709165G>A | CA2357973 | TMIE | c.251G>A (p.Arg84Gln) c.92G>A (p.Arg31Gln) c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709165G>C | CA352480607 | TMIE | c.251G>C (p.Arg84Pro) c.92G>C (p.Arg31Pro) c.149G>C (p.Arg50Pro) | |
3 | g.46709165G= | CA1362234561 | TMIE | c.251G= (p.Arg84=) c.92G= (p.Arg31=) c.149G= (p.Arg50=) | |
3 | g.46709165G>T | CA261934 | TMIE | c.251G>T (p.Arg84Leu) c.92G>T (p.Arg31Leu) c.149G>T (p.Arg50Leu) | ClinVar dbSNP |
3 | g.46709166G>A | CA433459109 | TMIE | c.252G>A (p.Arg84=) c.93G>A (p.Arg31=) c.150G>A (p.Arg50=) | COSMIC |
3 | g.46709166G>C | CA433459110 | TMIE | c.252G>C (p.Arg84=) c.93G>C (p.Arg31=) c.150G>C (p.Arg50=) | |
3 | g.46709166G>T | CA433459111 | TMIE | c.252G>T (p.Arg84=) c.93G>T (p.Arg31=) c.150G>T (p.Arg50=) | gnomAD v4 |
3 | g.46709167A= | CA1362234562 | TMIE | c.253A= (p.Thr85=) c.94A= (p.Thr32=) c.151A= (p.Thr51=) | |
3 | g.46709167A>C | CA73732808 | TMIE | c.253A>C (p.Thr85Pro) c.94A>C (p.Thr32Pro) c.151A>C (p.Thr51Pro) | dbSNP |
3 | g.46709167A>G | CA352480612 | TMIE | c.253A>G (p.Thr85Ala) c.94A>G (p.Thr32Ala) c.151A>G (p.Thr51Ala) | gnomAD v4 |
3 | g.46709167A>T | CA352480614 | TMIE | c.253A>T (p.Thr85Ser) c.94A>T (p.Thr32Ser) c.151A>T (p.Thr51Ser) | |
3 | g.46709168C>A | CA352480619 | TMIE | c.254C>A (p.Thr85Asn) c.95C>A (p.Thr32Asn) c.152C>A (p.Thr51Asn) | |
3 | g.46709168C>G | CA352480621 | TMIE | c.254C>G (p.Thr85Ser) c.95C>G (p.Thr32Ser) c.152C>G (p.Thr51Ser) | |
3 | g.46709168C>T | CA352480617 | TMIE | c.254C>T (p.Thr85Ile) c.95C>T (p.Thr32Ile) c.152C>T (p.Thr51Ile) | |
3 | g.46709169C>A | CA433459117 | TMIE | c.255C>A (p.Thr85=) c.96C>A (p.Thr32=) c.153C>A (p.Thr51=) | gnomAD v4 |
3 | g.46709169C= | CA1362234563 | TMIE | c.255C= (p.Thr85=) c.96C= (p.Thr32=) c.153C= (p.Thr51=) | |
3 | g.46709169C>G | CA433459116 | TMIE | c.255C>G (p.Thr85=) c.96C>G (p.Thr32=) c.153C>G (p.Thr51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709169C>T | CA433459115 | TMIE | c.255C>T (p.Thr85=) c.96C>T (p.Thr32=) c.153C>T (p.Thr51=) | |
3 | g.46709170C>A | CA433459119 | TMIE | c.256C>A (p.Arg86=) c.97C>A (p.Arg33=) c.154C>A (p.Arg52=) | |
3 | g.46709170C= | CA1362234564 | TMIE | c.256C= (p.Arg86=) c.97C= (p.Arg33=) c.154C= (p.Arg52=) | |
3 | g.46709170C>G | CA352480624 | TMIE | c.256C>G (p.Arg86Gly) c.97C>G (p.Arg33Gly) c.154C>G (p.Arg52Gly) | dbSNP gnomAD v4 |
3 | g.46709170C>T | CA2357974 | TMIE | c.256C>T (p.Arg86Trp) c.97C>T (p.Arg33Trp) c.154C>T (p.Arg52Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709171G>A | CA2357975 | TMIE | c.257G>A (p.Arg86Gln) c.98G>A (p.Arg33Gln) c.155G>A (p.Arg52Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709171G>C | CA352480630 | TMIE | c.257G>C (p.Arg86Pro) c.98G>C (p.Arg33Pro) c.155G>C (p.Arg52Pro) | |
3 | g.46709171G= | CA1362234565 | TMIE | c.257G= (p.Arg86=) c.98G= (p.Arg33=) c.155G= (p.Arg52=) | |
3 | g.46709171G>T | CA352480632 | TMIE | c.257G>T (p.Arg86Leu) c.98G>T (p.Arg33Leu) c.155G>T (p.Arg52Leu) | |
3 | g.46709172G>A | CA433459121 | TMIE | c.258G>A (p.Arg86=) c.99G>A (p.Arg33=) c.156G>A (p.Arg52=) | |
3 | g.46709172G>C | CA433459122 | TMIE | c.258G>C (p.Arg86=) c.99G>C (p.Arg33=) c.156G>C (p.Arg52=) | |
3 | g.46709172G>T | CA433459123 | TMIE | c.258G>T (p.Arg86=) c.99G>T (p.Arg33=) c.156G>T (p.Arg52=) | |
3 | g.46709173A>C | CA352480636 | TMIE | c.259A>C (p.Lys87Gln) c.100A>C (p.Lys34Gln) c.157A>C (p.Lys53Gln) | |
3 | g.46709173A>G | CA352480635 | TMIE | c.259A>G (p.Lys87Glu) c.100A>G (p.Lys34Glu) c.157A>G (p.Lys53Glu) | |
3 | g.46709173A>T | CA352480634 | TMIE | c.259A>T (p.Lys87Ter) c.100A>T (p.Lys34Ter) c.157A>T (p.Lys53Ter) | |
3 | g.46709174A>C | CA352480640 | TMIE | c.260A>C (p.Lys87Thr) c.101A>C (p.Lys34Thr) c.158A>C (p.Lys53Thr) | |
3 | g.46709174A>G | CA352480641 | TMIE | c.260A>G (p.Lys87Arg) c.101A>G (p.Lys34Arg) c.158A>G (p.Lys53Arg) | |
3 | g.46709174A>T | CA352480643 | TMIE | c.260A>T (p.Lys87Met) c.101A>T (p.Lys34Met) c.158A>T (p.Lys53Met) | |
3 | g.46709175G>A | CA2357976 | TMIE | c.261G>A (p.Lys87=) c.102G>A (p.Lys34=) c.159G>A (p.Lys53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46709175G>C | CA352480646 | TMIE | c.261G>C (p.Lys87Asn) c.102G>C (p.Lys34Asn) c.159G>C (p.Lys53Asn) | |
3 | g.46709175G= | CA1362234566 | TMIE | c.261G= (p.Lys87=) c.102G= (p.Lys34=) c.159G= (p.Lys53=) | |
3 | g.46709175G>T | CA352480649 | TMIE | c.261G>T (p.Lys87Asn) c.102G>T (p.Lys34Asn) c.159G>T (p.Lys53Asn) |