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.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) | |
18 | g.31598552C>A | CA2812000717 | TTR | c.337-16C>A (n.337-16C>A) c.241-16C>A (n.241-16C>A) c.451-16C>A (n.451-16C>A) | |
18 | g.31598552C= | CA2293889318 | TTR | c.337-16C= (n.337-16C=) c.241-16C= (n.241-16C=) c.451-16C= (n.451-16C=) | |
18 | g.31598552C>G | CA8928493 | TTR | c.337-16C>G (n.337-16C>G) c.241-16C>G (n.241-16C>G) c.451-16C>G (n.451-16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598555T>C | CA8928494 | TTR | c.337-13T>C (n.337-13T>C) c.241-13T>C (n.241-13T>C) c.451-13T>C (n.451-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598555T= | CA2293889319 | TTR | c.337-13T= (n.337-13T=) c.241-13T= (n.241-13T=) c.451-13T= (n.451-13T=) | |
18 | g.31598556C= | CA2293889320 | TTR | c.337-12C= (n.337-12C=) c.241-12C= (n.241-12C=) c.451-12C= (n.451-12C=) | |
18 | g.31598556C>T | CA8928495 | TTR | c.337-12C>T (n.337-12C>T) c.241-12C>T (n.241-12C>T) c.451-12C>T (n.451-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598559C>T | CA2641410501 | TTR | c.337-9C>T (n.337-9C>T) c.241-9C>T (n.241-9C>T) c.451-9C>T (n.451-9C>T) | gnomAD v4 |
18 | g.31598560T>C | CA2576480665 | TTR | c.337-8T>C (n.337-8T>C) c.241-8T>C (n.241-8T>C) c.451-8T>C (n.451-8T>C) | |
18 | g.31598561C>T | CA2576480666 | TTR | c.337-7C>T (n.337-7C>T) c.241-7C>T (n.241-7C>T) c.451-7C>T (n.451-7C>T) | |
18 | g.31598565T>C | CA8928496 | TTR | c.337-3T>C (n.337-3T>C) c.241-3T>C (n.241-3T>C) c.451-3T>C (n.451-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598565T>G | CA2739265773 | TTR | c.337-3T>G (n.337-3T>G) c.241-3T>G (n.241-3T>G) c.451-3T>G (n.451-3T>G) | ClinVar |
18 | g.31598565T= | CA2293889321 | TTR | c.337-3T= (n.337-3T=) c.241-3T= (n.241-3T=) c.451-3T= (n.451-3T=) | |
18 | g.31598566A>C | CA402158098 | TTR | c.337-2A>C (n.337-2A>C) c.241-2A>C (n.241-2A>C) c.451-2A>C (n.451-2A>C) | |
18 | g.31598566A>G | CA402158100 | TTR | c.337-2A>G (n.337-2A>G) c.241-2A>G (n.241-2A>G) c.451-2A>G (n.451-2A>G) | |
18 | g.31598566A>T | CA402158101 | TTR | c.337-2A>T (n.337-2A>T) c.241-2A>T (n.241-2A>T) c.451-2A>T (n.451-2A>T) | |
18 | g.31598567G>A | CA402158103 | TTR | c.337-1G>A (n.337-1G>A) c.241-1G>A (n.241-1G>A) c.451-1G>A (n.451-1G>A) | |
18 | g.31598567G>C | CA402158105 | TTR | c.337-1G>C (n.337-1G>C) c.241-1G>C (n.241-1G>C) c.451-1G>C (n.451-1G>C) | |
18 | g.31598567G>T | CA402158107 | TTR | c.337-1G>T (n.337-1G>T) c.241-1G>T (n.241-1G>T) c.451-1G>T (n.451-1G>T) | |
18 | g.31598568G>A | CA402158108 | TTR | c.337G>A (p.Val113Met) c.241G>A (p.Val81Met) c.451G>A (p.Val151Met) | ClinVar dbSNP |
18 | g.31598568G>C | CA402158110 | TTR | c.337G>C (p.Val113Leu) c.241G>C (p.Val81Leu) c.451G>C (p.Val151Leu) | gnomAD v4 |
18 | g.31598568G= | CA2293889322 | TTR | c.337G= (p.Val113=) c.241G= (p.Val81=) c.451G= (p.Val151=) | |
18 | g.31598568G>T | CA402158112 | TTR | c.337G>T (p.Val113Leu) c.241G>T (p.Val81Leu) c.451G>T (p.Val151Leu) | |
18 | g.31598569T>A | CA402158114 | TTR | c.338T>A (p.Val113Glu) c.242T>A (p.Val81Glu) c.452T>A (p.Val151Glu) | |
18 | g.31598569T>C | CA297741801 | TTR | c.338T>C (p.Val113Ala) c.242T>C (p.Val81Ala) c.452T>C (p.Val151Ala) | dbSNP |
18 | g.31598569T>G | CA402158117 | TTR | c.338T>G (p.Val113Gly) c.242T>G (p.Val81Gly) c.452T>G (p.Val151Gly) | |
18 | g.31598569T= | CA2293889323 | TTR | c.338T= (p.Val113=) c.242T= (p.Val81=) c.452T= (p.Val151=) | |
18 | g.31598570G>A | CA503610818 | TTR | c.339G>A (p.Val113=) c.243G>A (p.Val81=) c.453G>A (p.Val151=) | ClinVar dbSNP gnomAD v4 |
18 | g.31598570G>C | CA503610819 | TTR | c.339G>C (p.Val113=) c.243G>C (p.Val81=) c.453G>C (p.Val151=) |