Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACACA2293889082TTRc.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
18g.31598041_31598580delCA916081932TTRc.337-527_349del
c.241-527_253del
c.431-32_463del
ClinVar dbSNP
18g.31598554_31598557delCA182751TTRc.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)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598552C=CA2293889318TTRc.337-16C= (n.337-16C=)
c.241-16C= (n.241-16C=)
c.451-16C= (n.451-16C=)
18g.31598552C>GCA8928493TTRc.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
18g.31598555T>CCA8928494TTRc.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
18g.31598555T=CA2293889319TTRc.337-13T= (n.337-13T=)
c.241-13T= (n.241-13T=)
c.451-13T= (n.451-13T=)
18g.31598556C=CA2293889320TTRc.337-12C= (n.337-12C=)
c.241-12C= (n.241-12C=)
c.451-12C= (n.451-12C=)
18g.31598556C>TCA8928495TTRc.337-12C>T (n.337-12C>T)
c.241-12C>T (n.241-12C>T)
c.451-12C>T (n.451-12C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598559C>TCA2641410501TTRc.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
18g.31598560T>CCA2576480665TTRc.337-8T>C (n.337-8T>C)
c.241-8T>C (n.241-8T>C)
c.451-8T>C (n.451-8T>C)
18g.31598561C>TCA2576480666TTRc.337-7C>T (n.337-7C>T)
c.241-7C>T (n.241-7C>T)
c.451-7C>T (n.451-7C>T)
18g.31598565T>CCA8928496TTRc.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
18g.31598565T>GCA2739265773TTRc.337-3T>G (n.337-3T>G)
c.241-3T>G (n.241-3T>G)
c.451-3T>G (n.451-3T>G)
18g.31598565T=CA2293889321TTRc.337-3T= (n.337-3T=)
c.241-3T= (n.241-3T=)
c.451-3T= (n.451-3T=)
18g.31598566A>CCA402158098TTRc.337-2A>C (n.337-2A>C)
c.241-2A>C (n.241-2A>C)
c.451-2A>C (n.451-2A>C)
18g.31598566A>GCA402158100TTRc.337-2A>G (n.337-2A>G)
c.241-2A>G (n.241-2A>G)
c.451-2A>G (n.451-2A>G)
18g.31598566A>TCA402158101TTRc.337-2A>T (n.337-2A>T)
c.241-2A>T (n.241-2A>T)
c.451-2A>T (n.451-2A>T)
18g.31598567G>ACA402158103TTRc.337-1G>A (n.337-1G>A)
c.241-1G>A (n.241-1G>A)
c.451-1G>A (n.451-1G>A)
18g.31598567G>CCA402158105TTRc.337-1G>C (n.337-1G>C)
c.241-1G>C (n.241-1G>C)
c.451-1G>C (n.451-1G>C)
18g.31598567G>TCA402158107TTRc.337-1G>T (n.337-1G>T)
c.241-1G>T (n.241-1G>T)
c.451-1G>T (n.451-1G>T)
18g.31598568G>ACA402158108TTRc.337G>A (p.Val113Met)
c.241G>A (p.Val81Met)
c.451G>A (p.Val151Met)
ClinVar dbSNP
18g.31598568G>CCA402158110TTRc.337G>C (p.Val113Leu)
c.241G>C (p.Val81Leu)
c.451G>C (p.Val151Leu)
gnomAD v4
18g.31598568G=CA2293889322TTRc.337G= (p.Val113=)
c.241G= (p.Val81=)
c.451G= (p.Val151=)
18g.31598568G>TCA402158112TTRc.337G>T (p.Val113Leu)
c.241G>T (p.Val81Leu)
c.451G>T (p.Val151Leu)
18g.31598569T>ACA402158114TTRc.338T>A (p.Val113Glu)
c.242T>A (p.Val81Glu)
c.452T>A (p.Val151Glu)
18g.31598569T>CCA297741801TTRc.338T>C (p.Val113Ala)
c.242T>C (p.Val81Ala)
c.452T>C (p.Val151Ala)
dbSNP
18g.31598569T>GCA402158117TTRc.338T>G (p.Val113Gly)
c.242T>G (p.Val81Gly)
c.452T>G (p.Val151Gly)
18g.31598569T=CA2293889323TTRc.338T= (p.Val113=)
c.242T= (p.Val81=)
c.452T= (p.Val151=)
18g.31598570G>ACA503610818TTRc.339G>A (p.Val113=)
c.243G>A (p.Val81=)
c.453G>A (p.Val151=)
ClinVar dbSNP gnomAD v4
18g.31598570G>CCA503610819TTRc.339G>C (p.Val113=)
c.243G>C (p.Val81=)
c.453G>C (p.Val151=)
18g.31598570G=CA2293889324TTRc.339G= (p.Val113=)
c.243G= (p.Val81=)
c.453G= (p.Val151=)
18g.31598570G>TCA503610820TTRc.339G>T (p.Val113=)
c.243G>T (p.Val81=)
c.453G>T (p.Val151=)
gnomAD v4
18g.31598571G>ACA402158119TTRc.340G>A (p.Val114Ile)
c.244G>A (p.Val82Ile)
c.454G>A (p.Val152Ile)
18g.31598571G>CCA402158123TTRc.340G>C (p.Val114Leu)
c.244G>C (p.Val82Leu)
c.454G>C (p.Val152Leu)
18g.31598571G=CA2293889325TTRc.340G= (p.Val114=)
c.244G= (p.Val82=)
c.454G= (p.Val152=)
18g.31598571G>TCA402158121TTRc.340G>T (p.Val114Leu)
c.244G>T (p.Val82Leu)
c.454G>T (p.Val152Leu)
ClinVar dbSNP
18g.31598572T>ACA402158125TTRc.341T>A (p.Val114Glu)
c.245T>A (p.Val82Glu)
c.455T>A (p.Val152Glu)
18g.31598572T>CCA402158127TTRc.341T>C (p.Val114Ala)
c.245T>C (p.Val82Ala)
c.455T>C (p.Val152Ala)
18g.31598572T>GCA402158129TTRc.341T>G (p.Val114Gly)
c.245T>G (p.Val82Gly)
c.455T>G (p.Val152Gly)
18g.31598573A>CCA503610825TTRc.342A>C (p.Val114=)
c.246A>C (p.Val82=)
c.456A>C (p.Val152=)
18g.31598573A>GCA503610826TTRc.342A>G (p.Val114=)
c.246A>G (p.Val82=)
c.456A>G (p.Val152=)
18g.31598573A>TCA503610827TTRc.342A>T (p.Val114=)
c.246A>T (p.Val82=)
c.456A>T (p.Val152=)
18g.31598574T>ACA402158130TTRc.343T>A (p.Phe115Ile)
c.247T>A (p.Phe83Ile)
c.457T>A (p.Phe153Ile)
18g.31598574T>CCA402158131TTRc.343T>C (p.Phe115Leu)
c.247T>C (p.Phe83Leu)
c.457T>C (p.Phe153Leu)
18g.31598574T>GCA402158132TTRc.343T>G (p.Phe115Val)
c.247T>G (p.Phe83Val)
c.457T>G (p.Phe153Val)
18g.31598575T>ACA402158135TTRc.344T>A (p.Phe115Tyr)
c.248T>A (p.Phe83Tyr)
c.458T>A (p.Phe153Tyr)
18g.31598575T>CCA402158133TTRc.344T>C (p.Phe115Ser)
c.248T>C (p.Phe83Ser)
c.458T>C (p.Phe153Ser)
18g.31598575T>GCA402158134TTRc.344T>G (p.Phe115Cys)
c.248T>G (p.Phe83Cys)
c.458T>G (p.Phe153Cys)
18g.31598576C>ACA402158136TTRc.345C>A (p.Phe115Leu)
c.249C>A (p.Phe83Leu)
c.459C>A (p.Phe153Leu)

Number of alleles fetched