Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711539C>ACA413423246ARc.*371C>A (n.*371C>A)
c.2023C>A (p.Leu675Met)
c.650C>A (n.650C>A)
c.427C>A (p.Leu143Met)
c.1453C>A (p.Leu485Met)
dbSNP
Xg.67711539C>GCA413423247ARc.*371C>G (n.*371C>G)
c.2023C>G (p.Leu675Val)
c.650C>G (n.650C>G)
c.427C>G (p.Leu143Val)
c.1453C>G (p.Leu485Val)
dbSNP
Xg.67711539C>TCA517048323ARc.*371C>T (n.*371C>T)
c.2023C>T (p.Leu675=)
c.650C>T (n.650C>T)
c.427C>T (p.Leu143=)
c.1453C>T (p.Leu485=)
dbSNP
Xg.67711540T>ACA413423248ARc.*372T>A (n.*372T>A)
c.2024T>A (p.Leu675Gln)
c.651T>A (n.651T>A)
c.428T>A (p.Leu143Gln)
c.1454T>A (p.Leu485Gln)
dbSNP
Xg.67711540T>CCA413423249ARc.*372T>C (n.*372T>C)
c.2024T>C (p.Leu675Pro)
c.651T>C (n.651T>C)
c.428T>C (p.Leu143Pro)
c.1454T>C (p.Leu485Pro)
dbSNP COSMIC COSMIC
Xg.67711540T>GCA413423250ARc.*372T>G (n.*372T>G)
c.2024T>G (p.Leu675Arg)
c.651T>G (n.651T>G)
c.428T>G (p.Leu143Arg)
c.1454T>G (p.Leu485Arg)
Xg.67711541G>ACA517048325ARc.*373G>A (n.*373G>A)
c.2025G>A (p.Leu675=)
c.652G>A (n.652G>A)
c.429G>A (p.Leu143=)
c.1455G>A (p.Leu485=)
dbSNP
Xg.67711541G>CCA517048326ARc.*373G>C (n.*373G>C)
c.2025G>C (p.Leu675=)
c.652G>C (n.652G>C)
c.429G>C (p.Leu143=)
c.1455G>C (p.Leu485=)
dbSNP
Xg.67711541G>TCA517048328ARc.*373G>T (n.*373G>T)
c.2025G>T (p.Leu675=)
c.652G>T (n.652G>T)
c.429G>T (p.Leu143=)
c.1455G>T (p.Leu485=)
dbSNP
Xg.67711542A>CCA413423251ARc.*374A>C (n.*374A>C)
c.2026A>C (p.Asn676His)
c.653A>C (n.653A>C)
c.430A>C (p.Asn144His)
c.1456A>C (p.Asn486His)
Xg.67711542A>GCA413423252ARc.*374A>G (n.*374A>G)
c.2026A>G (p.Asn676Asp)
c.653A>G (n.653A>G)
c.430A>G (p.Asn144Asp)
c.1456A>G (p.Asn486Asp)
Xg.67711542A>TCA413423253ARc.*374A>T (n.*374A>T)
c.2026A>T (p.Asn676Tyr)
c.653A>T (n.653A>T)
c.430A>T (p.Asn144Tyr)
c.1456A>T (p.Asn486Tyr)
dbSNP
Xg.67711543A>CCA413423254ARc.*375A>C (n.*375A>C)
c.2027A>C (p.Asn676Thr)
c.654A>C (n.654A>C)
c.431A>C (p.Asn144Thr)
c.1457A>C (p.Asn486Thr)
dbSNP
Xg.67711543A>GCA413423255ARc.*375A>G (n.*375A>G)
c.2027A>G (p.Asn676Ser)
c.654A>G (n.654A>G)
c.431A>G (p.Asn144Ser)
c.1457A>G (p.Asn486Ser)
dbSNP gnomAD v4
Xg.67711543A>TCA413423256ARc.*375A>T (n.*375A>T)
c.2027A>T (p.Asn676Ile)
c.654A>T (n.654A>T)
c.431A>T (p.Asn144Ile)
c.1457A>T (p.Asn486Ile)
dbSNP
Xg.67711544T>ACA413423257ARc.*376T>A (n.*376T>A)
c.2028T>A (p.Asn676Lys)
c.655T>A (n.655T>A)
c.432T>A (p.Asn144Lys)
c.1458T>A (p.Asn486Lys)
dbSNP
Xg.67711544T>CCA517048333ARc.*376T>C (n.*376T>C)
c.2028T>C (p.Asn676=)
c.655T>C (n.655T>C)
c.432T>C (p.Asn144=)
c.1458T>C (p.Asn486=)
dbSNP
Xg.67711544T>GCA413423258ARc.*376T>G (n.*376T>G)
c.2028T>G (p.Asn676Lys)
c.655T>G (n.655T>G)
c.432T>G (p.Asn144Lys)
c.1458T>G (p.Asn486Lys)
dbSNP
Xg.67711545G>ACA413423259ARc.*377G>A (n.*377G>A)
c.2029G>A (p.Val677Ile)
c.656G>A (n.656G>A)
c.433G>A (p.Val145Ile)
c.1459G>A (p.Val487Ile)
dbSNP
Xg.67711545G>CCA413423261ARc.*377G>C (n.*377G>C)
c.2029G>C (p.Val677Leu)
c.656G>C (n.656G>C)
c.433G>C (p.Val145Leu)
c.1459G>C (p.Val487Leu)
dbSNP
Xg.67711545G>TCA413423260ARc.*377G>T (n.*377G>T)
c.2029G>T (p.Val677Phe)
c.656G>T (n.656G>T)
c.433G>T (p.Val145Phe)
c.1459G>T (p.Val487Phe)
Xg.67711546T>ACA413423262ARc.*378T>A (n.*378T>A)
c.2030T>A (p.Val677Asp)
c.657T>A (n.657T>A)
c.434T>A (p.Val145Asp)
c.1460T>A (p.Val487Asp)
Xg.67711546T>CCA413423263ARc.*378T>C (n.*378T>C)
c.2030T>C (p.Val677Ala)
c.657T>C (n.657T>C)
c.434T>C (p.Val145Ala)
c.1460T>C (p.Val487Ala)
Xg.67711546T>GCA413423264ARc.*378T>G (n.*378T>G)
c.2030T>G (p.Val677Gly)
c.657T>G (n.657T>G)
c.434T>G (p.Val145Gly)
c.1460T>G (p.Val487Gly)
Xg.67711547C>ACA517048336ARc.*379C>A (n.*379C>A)
c.2031C>A (p.Val677=)
c.658C>A (n.658C>A)
c.435C>A (p.Val145=)
c.1461C>A (p.Val487=)
dbSNP COSMIC COSMIC
Xg.67711547C=CA2435130480ARc.*379C= (n.*379C=)
c.2031C= (p.Val677=)
c.658C= (n.658C=)
c.435C= (p.Val145=)
c.1461C= (p.Val487=)
Xg.67711547C>GCA517048338ARc.*379C>G (n.*379C>G)
c.2031C>G (p.Val677=)
c.658C>G (n.658C>G)
c.435C>G (p.Val145=)
c.1461C>G (p.Val487=)
dbSNP
Xg.67711547C>TCA517048339ARc.*379C>T (n.*379C>T)
c.2031C>T (p.Val677=)
c.658C>T (n.658C>T)
c.435C>T (p.Val145=)
c.1461C>T (p.Val487=)
dbSNP gnomAD v2 gnomAD v4
Xg.67711548C>ACA413423265ARc.*380C>A (n.*380C>A)
c.2032C>A (p.Leu678Met)
c.659C>A (n.659C>A)
c.436C>A (p.Leu146Met)
c.1462C>A (p.Leu488Met)
dbSNP
Xg.67711548C>GCA413423266ARc.*380C>G (n.*380C>G)
c.2032C>G (p.Leu678Val)
c.659C>G (n.659C>G)
c.436C>G (p.Leu146Val)
c.1462C>G (p.Leu488Val)
dbSNP
Xg.67711548C>TCA517048341ARc.*380C>T (n.*380C>T)
c.2032C>T (p.Leu678=)
c.659C>T (n.659C>T)
c.436C>T (p.Leu146=)
c.1462C>T (p.Leu488=)
dbSNP
Xg.67711549T>ACA413423267ARc.*381T>A (n.*381T>A)
c.2033T>A (p.Leu678Gln)
c.660T>A (n.660T>A)
c.437T>A (p.Leu146Gln)
c.1463T>A (p.Leu488Gln)
Xg.67711549T>CCA120740ARc.*381T>C (n.*381T>C)
c.2033T>C (p.Leu678Pro)
c.660T>C (n.660T>C)
c.437T>C (p.Leu146Pro)
c.1463T>C (p.Leu488Pro)
ClinVar dbSNP
Xg.67711549T>GCA413423268ARc.*381T>G (n.*381T>G)
c.2033T>G (p.Leu678Arg)
c.660T>G (n.660T>G)
c.437T>G (p.Leu146Arg)
c.1463T>G (p.Leu488Arg)
Xg.67711549T=CA2435130481ARc.*381T= (n.*381T=)
c.2033T= (p.Leu678=)
c.660T= (n.660T=)
c.437T= (p.Leu146=)
c.1463T= (p.Leu488=)
Xg.67711550G>ACA517048344ARc.*382G>A (n.*382G>A)
c.2034G>A (p.Leu678=)
c.661G>A (n.661G>A)
c.438G>A (p.Leu146=)
c.1464G>A (p.Leu488=)
dbSNP
Xg.67711550G>CCA517048343ARc.*382G>C (n.*382G>C)
c.2034G>C (p.Leu678=)
c.661G>C (n.661G>C)
c.438G>C (p.Leu146=)
c.1464G>C (p.Leu488=)
dbSNP
Xg.67711550G>TCA517048342ARc.*382G>T (n.*382G>T)
c.2034G>T (p.Leu678=)
c.661G>T (n.661G>T)
c.438G>T (p.Leu146=)
c.1464G>T (p.Leu488=)
Xg.67711551G>ACA413423269ARc.*383G>A (n.*383G>A)
c.2035G>A (p.Glu679Lys)
c.662G>A (n.662G>A)
c.439G>A (p.Glu147Lys)
c.1465G>A (p.Glu489Lys)
dbSNP gnomAD v2 gnomAD v4
Xg.67711551G>CCA413423270ARc.*383G>C (n.*383G>C)
c.2035G>C (p.Glu679Gln)
c.662G>C (n.662G>C)
c.439G>C (p.Glu147Gln)
c.1465G>C (p.Glu489Gln)
dbSNP
Xg.67711551G=CA2435130482ARc.*383G= (n.*383G=)
c.2035G= (p.Glu679=)
c.662G= (n.662G=)
c.439G= (p.Glu147=)
c.1465G= (p.Glu489=)
Xg.67711551G>TCA413423271ARc.*383G>T (n.*383G>T)
c.2035G>T (p.Glu679Ter)
c.662G>T (n.662G>T)
c.439G>T (p.Glu147Ter)
c.1465G>T (p.Glu489Ter)
dbSNP
Xg.67711552A>CCA413423274ARc.*384A>C (n.*384A>C)
c.2036A>C (p.Glu679Ala)
c.663A>C (n.663A>C)
c.440A>C (p.Glu147Ala)
c.1466A>C (p.Glu489Ala)
Xg.67711552A>GCA413423273ARc.*384A>G (n.*384A>G)
c.2036A>G (p.Glu679Gly)
c.663A>G (n.663A>G)
c.440A>G (p.Glu147Gly)
c.1466A>G (p.Glu489Gly)
dbSNP
Xg.67711552A>TCA413423272ARc.*384A>T (n.*384A>T)
c.2036A>T (p.Glu679Val)
c.663A>T (n.663A>T)
c.440A>T (p.Glu147Val)
c.1466A>T (p.Glu489Val)
dbSNP
Xg.67711552_67711570delinsAAGCCATTGAGCCAGGTGTCA2435130483ARc.*384_*402delinsAAGCCATTGAGCCAGGTGT (n.*384_*402delinsAAGCCATTGAGCCAGGTGT)
c.2036_2054delinsAAGCCATTGAGCCAGGTGT (p.Glu679=)
c.663_681delinsAAGCCATTGAGCCAGGTGT (n.663_681delinsAAGCCATTGAGCCAGGTGT)
c.440_458delinsAAGCCATTGAGCCAGGTGT (p.Glu147=)
c.1466_1484delinsAAGCCATTGAGCCAGGTGT (p.Glu489=)
Xg.67711553A=CA2435130484ARc.*385A= (n.*385A=)
c.2037A= (p.Glu679=)
c.664A= (n.664A=)
c.441A= (p.Glu147=)
c.1467A= (p.Glu489=)
Xg.67711553A>CCA413423275ARc.*385A>C (n.*385A>C)
c.2037A>C (p.Glu679Asp)
c.664A>C (n.664A>C)
c.441A>C (p.Glu147Asp)
c.1467A>C (p.Glu489Asp)
ClinVar dbSNP
Xg.67711553A>GCA517048350ARc.*385A>G (n.*385A>G)
c.2037A>G (p.Glu679=)
c.664A>G (n.664A>G)
c.441A>G (p.Glu147=)
c.1467A>G (p.Glu489=)
dbSNP
Xg.67711553A>TCA413423276ARc.*385A>T (n.*385A>T)
c.2037A>T (p.Glu679Asp)
c.664A>T (n.664A>T)
c.441A>T (p.Glu147Asp)
c.1467A>T (p.Glu489Asp)
dbSNP

Number of alleles fetched