| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | CA2293889082 | TTR | c.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | |
| 18 | g.31598041_31598580del | CA916081932 | TTR | c.337-527_349del c.241-527_253del c.431-32_463del | ClinVar dbSNP |
| 18 | g.31598533C>A | CA2739580361 | TTR | c.337-35C>A (n.337-35C>A) c.241-35C>A (n.241-35C>A) c.451-35C>A (n.451-35C>A) | |
| 18 | g.31598533C= | CA2293889303 | TTR | c.337-35C= (n.337-35C=) c.241-35C= (n.241-35C=) c.451-35C= (n.451-35C=) | |
| 18 | g.31598533C>G | CA629155251 | TTR | c.337-35C>G (n.337-35C>G) c.241-35C>G (n.241-35C>G) c.451-35C>G (n.451-35C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598534T>A | CA2641410498 | TTR | c.337-34T>A (n.337-34T>A) c.241-34T>A (n.241-34T>A) c.451-34T>A (n.451-34T>A) | gnomAD v4 |
| 18 | g.31598534T>C | CA2739580362 | TTR | c.337-34T>C (n.337-34T>C) c.241-34T>C (n.241-34T>C) c.451-34T>C (n.451-34T>C) | |
| 18 | g.31598534T>G | CA2739580363 | TTR | c.337-34T>G (n.337-34T>G) c.241-34T>G (n.241-34T>G) c.451-34T>G (n.451-34T>G) | |
| 18 | g.31598535G>A | CA2293889305 | TTR | c.337-33G>A (n.337-33G>A) c.241-33G>A (n.241-33G>A) c.451-33G>A (n.451-33G>A) | dbSNP |
| 18 | g.31598535G= | CA2293889304 | TTR | c.337-33G= (n.337-33G=) c.241-33G= (n.241-33G=) c.451-33G= (n.451-33G=) | |
| 18 | g.31598535G>T | CA629155252 | TTR | c.337-33G>T (n.337-33G>T) c.241-33G>T (n.241-33G>T) c.451-33G>T (n.451-33G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31598536G>A | CA8928489 | TTR | c.337-32G>A (n.337-32G>A) c.241-32G>A (n.241-32G>A) c.451-32G>A (n.451-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598536G>C | CA2739580364 | TTR | c.337-32G>C (n.337-32G>C) c.241-32G>C (n.241-32G>C) c.451-32G>C (n.451-32G>C) | |
| 18 | g.31598536G= | CA2293889306 | TTR | c.337-32G= (n.337-32G=) c.241-32G= (n.241-32G=) c.451-32G= (n.451-32G=) | |
| 18 | g.31598536G>T | CA2739580365 | TTR | c.337-32G>T (n.337-32G>T) c.241-32G>T (n.241-32G>T) c.451-32G>T (n.451-32G>T) | |
| 18 | g.31598537T>A | CA2739580368 | TTR | c.337-31T>A (n.337-31T>A) c.241-31T>A (n.241-31T>A) c.451-31T>A (n.451-31T>A) | |
| 18 | g.31598537T>C | CA2739580367 | TTR | c.337-31T>C (n.337-31T>C) c.241-31T>C (n.241-31T>C) c.451-31T>C (n.451-31T>C) | |
| 18 | g.31598537T>G | CA2739580366 | TTR | c.337-31T>G (n.337-31T>G) c.241-31T>G (n.241-31T>G) c.451-31T>G (n.451-31T>G) | |
| 18 | g.31598539G>A | CA2739580369 | TTR | c.337-29G>A (n.337-29G>A) c.241-29G>A (n.241-29G>A) c.451-29G>A (n.451-29G>A) | |
| 18 | g.31598539G>C | CA2293889308 | TTR | c.337-29G>C (n.337-29G>C) c.241-29G>C (n.241-29G>C) c.451-29G>C (n.451-29G>C) | dbSNP gnomAD v4 |
| 18 | g.31598539G= | CA2293889307 | TTR | c.337-29G= (n.337-29G=) c.241-29G= (n.241-29G=) c.451-29G= (n.451-29G=) | |
| 18 | g.31598539G>T | CA2565012467 | TTR | c.337-29G>T (n.337-29G>T) c.241-29G>T (n.241-29G>T) c.451-29G>T (n.451-29G>T) | |
| 18 | g.31598540A>C | CA2739580370 | TTR | c.337-28A>C (n.337-28A>C) c.241-28A>C (n.241-28A>C) c.451-28A>C (n.451-28A>C) | |
| 18 | g.31598540A>G | CA2739580371 | TTR | c.337-28A>G (n.337-28A>G) c.241-28A>G (n.241-28A>G) c.451-28A>G (n.451-28A>G) | |
| 18 | g.31598540A>T | CA2739580372 | TTR | c.337-28A>T (n.337-28A>T) c.241-28A>T (n.241-28A>T) c.451-28A>T (n.451-28A>T) | |
| 18 | g.31598541A>C | CA2739580373 | TTR | c.337-27A>C (n.337-27A>C) c.241-27A>C (n.241-27A>C) c.451-27A>C (n.451-27A>C) | |
| 18 | g.31598541A>T | CA2739580374 | TTR | c.337-27A>T (n.337-27A>T) c.241-27A>T (n.241-27A>T) c.451-27A>T (n.451-27A>T) | |
| 18 | g.31598542A= | CA2293889309 | TTR | c.337-26A= (n.337-26A=) c.241-26A= (n.241-26A=) c.451-26A= (n.451-26A=) | |
| 18 | g.31598542A>C | CA778418211 | TTR | c.337-26A>C (n.337-26A>C) c.241-26A>C (n.241-26A>C) c.451-26A>C (n.451-26A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598543T>G | CA629155253 | TTR | c.337-25T>G (n.337-25T>G) c.241-25T>G (n.241-25T>G) c.451-25T>G (n.451-25T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598543T= | CA2293889310 | TTR | c.337-25T= (n.337-25T=) c.241-25T= (n.241-25T=) c.451-25T= (n.451-25T=) | |
| 18 | g.31598544G>A | CA8928491 | TTR | c.337-24G>A (n.337-24G>A) c.241-24G>A (n.241-24G>A) c.451-24G>A (n.451-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598544G>C | CA8928490 | TTR | c.337-24G>C (n.337-24G>C) c.241-24G>C (n.241-24G>C) c.451-24G>C (n.451-24G>C) | dbSNP ExAC gnomAD v2 |
| 18 | g.31598544G= | CA2293889311 | TTR | c.337-24G= (n.337-24G=) c.241-24G= (n.241-24G=) c.451-24G= (n.451-24G=) | |
| 18 | g.31598545G>A | CA988926001 | TTR | c.337-23G>A (n.337-23G>A) c.241-23G>A (n.241-23G>A) c.451-23G>A (n.451-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31598545G= | CA2293889312 | TTR | c.337-23G= (n.337-23G=) c.241-23G= (n.241-23G=) c.451-23G= (n.451-23G=) | |
| 18 | g.31598545G>T | CA8928492 | TTR | c.337-23G>T (n.337-23G>T) c.241-23G>T (n.241-23G>T) c.451-23G>T (n.451-23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31598546A= | CA2293889314 | TTR | c.337-22A= (n.337-22A=) c.241-22A= (n.241-22A=) c.451-22A= (n.451-22A=) | |
| 18 | g.31598546A>C | CA2641410499 | TTR | c.337-22A>C (n.337-22A>C) c.241-22A>C (n.241-22A>C) c.451-22A>C (n.451-22A>C) | gnomAD v4 |
| 18 | g.31598546A>G | CA778418215 | TTR | c.337-22A>G (n.337-22A>G) c.241-22A>G (n.241-22A>G) c.451-22A>G (n.451-22A>G) | dbSNP |
| 18 | g.31598546A>T | CA778418219 | TTR | c.337-22A>T (n.337-22A>T) c.241-22A>T (n.241-22A>T) c.451-22A>T (n.451-22A>T) | dbSNP |
| 18 | g.31598546_31598550delinsATCTG | CA2293889313 | TTR | c.337-22_337-18delinsATCTG (n.337-22_337-18delinsATCTG) c.241-22_241-18delinsATCTG (n.241-22_241-18delinsATCTG) c.451-22_451-18delinsATCTG (n.451-22_451-18delinsATCTG) | |
| 18 | g.31598547T>C | CA2641410500 | TTR | c.337-21T>C (n.337-21T>C) c.241-21T>C (n.241-21T>C) c.451-21T>C (n.451-21T>C) | gnomAD v4 |
| 18 | g.31598554_31598557del | CA182751 | TTR | c.337-14_337-11del (n.337-14_337-11del) c.241-14_241-11del (n.241-14_241-11del) c.451-14_451-11del (n.451-14_451-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598549T>C | CA297741794 | TTR | c.337-19T>C (n.337-19T>C) c.241-19T>C (n.241-19T>C) c.451-19T>C (n.451-19T>C) | dbSNP gnomAD v2 |
| 18 | g.31598549T= | CA2293889315 | TTR | c.337-19T= (n.337-19T=) c.241-19T= (n.241-19T=) c.451-19T= (n.451-19T=) | |
| 18 | g.31598550G>A | CA2293889317 | TTR | c.337-18G>A (n.337-18G>A) c.241-18G>A (n.241-18G>A) c.451-18G>A (n.451-18G>A) | dbSNP |
| 18 | g.31598550G>C | CA325782 | TTR | c.337-18G>C (n.337-18G>C) c.241-18G>C (n.241-18G>C) c.451-18G>C (n.451-18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598550G= | CA2293889316 | TTR | c.337-18G= (n.337-18G=) c.241-18G= (n.241-18G=) c.451-18G= (n.451-18G=) | |
| 18 | g.31598550G>T | CA2580582782 | TTR | c.337-18G>T (n.337-18G>T) c.241-18G>T (n.241-18G>T) c.451-18G>T (n.451-18G>T) |