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.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=) | |
18 | g.31598570G= | CA2293889324 | TTR | c.339G= (p.Val113=) c.243G= (p.Val81=) c.453G= (p.Val151=) | |
18 | g.31598570G>T | CA503610820 | TTR | c.339G>T (p.Val113=) c.243G>T (p.Val81=) c.453G>T (p.Val151=) | gnomAD v4 |
18 | g.31598571G>A | CA402158119 | TTR | c.340G>A (p.Val114Ile) c.244G>A (p.Val82Ile) c.454G>A (p.Val152Ile) | |
18 | g.31598571G>C | CA402158123 | TTR | c.340G>C (p.Val114Leu) c.244G>C (p.Val82Leu) c.454G>C (p.Val152Leu) | |
18 | g.31598571G= | CA2293889325 | TTR | c.340G= (p.Val114=) c.244G= (p.Val82=) c.454G= (p.Val152=) | |
18 | g.31598571G>T | CA402158121 | TTR | c.340G>T (p.Val114Leu) c.244G>T (p.Val82Leu) c.454G>T (p.Val152Leu) | ClinVar dbSNP |
18 | g.31598572T>A | CA402158125 | TTR | c.341T>A (p.Val114Glu) c.245T>A (p.Val82Glu) c.455T>A (p.Val152Glu) | |
18 | g.31598572T>C | CA402158127 | TTR | c.341T>C (p.Val114Ala) c.245T>C (p.Val82Ala) c.455T>C (p.Val152Ala) | |
18 | g.31598572T>G | CA402158129 | TTR | c.341T>G (p.Val114Gly) c.245T>G (p.Val82Gly) c.455T>G (p.Val152Gly) | |
18 | g.31598573A>C | CA503610825 | TTR | c.342A>C (p.Val114=) c.246A>C (p.Val82=) c.456A>C (p.Val152=) | |
18 | g.31598573A>G | CA503610826 | TTR | c.342A>G (p.Val114=) c.246A>G (p.Val82=) c.456A>G (p.Val152=) | |
18 | g.31598573A>T | CA503610827 | TTR | c.342A>T (p.Val114=) c.246A>T (p.Val82=) c.456A>T (p.Val152=) | |
18 | g.31598574T>A | CA402158130 | TTR | c.343T>A (p.Phe115Ile) c.247T>A (p.Phe83Ile) c.457T>A (p.Phe153Ile) | |
18 | g.31598574T>C | CA402158131 | TTR | c.343T>C (p.Phe115Leu) c.247T>C (p.Phe83Leu) c.457T>C (p.Phe153Leu) | |
18 | g.31598574T>G | CA402158132 | TTR | c.343T>G (p.Phe115Val) c.247T>G (p.Phe83Val) c.457T>G (p.Phe153Val) | |
18 | g.31598575T>A | CA402158135 | TTR | c.344T>A (p.Phe115Tyr) c.248T>A (p.Phe83Tyr) c.458T>A (p.Phe153Tyr) | |
18 | g.31598575T>C | CA402158133 | TTR | c.344T>C (p.Phe115Ser) c.248T>C (p.Phe83Ser) c.458T>C (p.Phe153Ser) | |
18 | g.31598575T>G | CA402158134 | TTR | c.344T>G (p.Phe115Cys) c.248T>G (p.Phe83Cys) c.458T>G (p.Phe153Cys) | |
18 | g.31598576C>A | CA402158136 | TTR | c.345C>A (p.Phe115Leu) c.249C>A (p.Phe83Leu) c.459C>A (p.Phe153Leu) | |
18 | g.31598576C>G | CA402158137 | TTR | c.345C>G (p.Phe115Leu) c.249C>G (p.Phe83Leu) c.459C>G (p.Phe153Leu) | |
18 | g.31598576C>T | CA503610830 | TTR | c.345C>T (p.Phe115=) c.249C>T (p.Phe83=) c.459C>T (p.Phe153=) | |
18 | g.31598577A>C | CA402158138 | TTR | c.346A>C (p.Thr116Pro) c.250A>C (p.Thr84Pro) c.460A>C (p.Thr154Pro) | |
18 | g.31598577A>G | CA402158139 | TTR | c.346A>G (p.Thr116Ala) c.250A>G (p.Thr84Ala) c.460A>G (p.Thr154Ala) | |
18 | g.31598577A>T | CA402158140 | TTR | c.346A>T (p.Thr116Ser) c.250A>T (p.Thr84Ser) c.460A>T (p.Thr154Ser) | |
18 | g.31598578C>A | CA402158142 | TTR | c.347C>A (p.Thr116Lys) c.251C>A (p.Thr84Lys) c.461C>A (p.Thr154Lys) | |
18 | g.31598578C>G | CA402158141 | TTR | c.347C>G (p.Thr116Arg) c.251C>G (p.Thr84Arg) c.461C>G (p.Thr154Arg) | ClinVar gnomAD v4 |