Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121168741_121168755delCA645572018TBCEL-TECTA,TECTAc.5815_5829del (p.Asn1939_Lys1943del)
c.5800_5814del (p.Asn1934_Lys1938del)
c.3107_3121del
n.2195_2209del
c.6757_6771del (p.Asn2253_Lys2257del)
 COSMIC
11g.121168755A=CA2004752412TBCEL-TECTA,TECTAc.5829A= (p.Lys1943=)
c.5814A= (p.Lys1938=)
c.3121A=
n.2209A=
c.6771A= (p.Lys2257=)
11g.121168755A>CCA383036727TBCEL-TECTA,TECTAc.5829A>C (p.Lys1943Asn)
c.5814A>C (p.Lys1938Asn)
c.3121A>C
n.2209A>C
c.6771A>C (p.Lys2257Asn)
11g.121168755A>GCA10638068TBCEL-TECTA,TECTAc.5829A>G (p.Lys1943=)
c.5814A>G (p.Lys1938=)
c.3121A>G
n.2209A>G
c.6771A>G (p.Lys2257=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121168755A>TCA383036726TBCEL-TECTA,TECTAc.5829A>T (p.Lys1943Asn)
c.5814A>T (p.Lys1938Asn)
c.3121A>T
n.2209A>T
c.6771A>T (p.Lys2257Asn)
 ClinVar dbSNP gnomAD v4
11g.121168756C>ACA383036728TBCEL-TECTA,TECTAc.5830C>A (p.His1944Asn)
c.5815C>A (p.His1939Asn)
c.3122C>A
n.2210C>A
c.6772C>A (p.His2258Asn)
11g.121168756C=CA2004752423TBCEL-TECTA,TECTAc.5830C= (p.His1944=)
c.5815C= (p.His1939=)
c.3122C=
n.2210C=
c.6772C= (p.His2258=)
11g.121168756C>GCA383036729TBCEL-TECTA,TECTAc.5830C>G (p.His1944Asp)
c.5815C>G (p.His1939Asp)
c.3122C>G
n.2210C>G
c.6772C>G (p.His2258Asp)
11g.121168756C>TCA6327830TBCEL-TECTA,TECTAc.5830C>T (p.His1944Tyr)
c.5815C>T (p.His1939Tyr)
c.3122C>T
n.2210C>T
c.6772C>T (p.His2258Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168757A=CA2004752429TBCEL-TECTA,TECTAc.5831A= (p.His1944=)
c.5816A= (p.His1939=)
c.3123A=
n.2211A=
c.6773A= (p.His2258=)
11g.121168757A>CCA383036730TBCEL-TECTA,TECTAc.5831A>C (p.His1944Pro)
c.5816A>C (p.His1939Pro)
c.3123A>C
n.2211A>C
c.6773A>C (p.His2258Pro)
11g.121168757A>GCA383036731TBCEL-TECTA,TECTAc.5831A>G (p.His1944Arg)
c.5816A>G (p.His1939Arg)
c.3123A>G
n.2211A>G
c.6773A>G (p.His2258Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121168757A>TCA383036732TBCEL-TECTA,TECTAc.5831A>T (p.His1944Leu)
c.5816A>T (p.His1939Leu)
c.3123A>T
n.2211A>T
c.6773A>T (p.His2258Leu)
11g.121168758T>ACA6327831TBCEL-TECTA,TECTAc.5832T>A (p.His1944Gln)
c.5817T>A (p.His1939Gln)
c.3124T>A
n.2212T>A
c.6774T>A (p.His2258Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121168758T>CCA477383586TBCEL-TECTA,TECTAc.5832T>C (p.His1944=)
c.5817T>C (p.His1939=)
c.3124T>C
n.2212T>C
c.6774T>C (p.His2258=)
 dbSNP
11g.121168758T>GCA383036733TBCEL-TECTA,TECTAc.5832T>G (p.His1944Gln)
c.5817T>G (p.His1939Gln)
c.3124T>G
n.2212T>G
c.6774T>G (p.His2258Gln)
11g.121168758T=CA2004752432TBCEL-TECTA,TECTAc.5832T= (p.His1944=)
c.5817T= (p.His1939=)
c.3124T=
n.2212T=
c.6774T= (p.His2258=)
11g.121168759C>ACA383036734TBCEL-TECTA,TECTAc.5833C>A (p.Pro1945Thr)
c.5818C>A (p.Pro1940Thr)
c.3125C>A
n.2213C>A
c.6775C>A (p.Pro2259Thr)
11g.121168759C>GCA383036735TBCEL-TECTA,TECTAc.5833C>G (p.Pro1945Ala)
c.5818C>G (p.Pro1940Ala)
c.3125C>G
n.2213C>G
c.6775C>G (p.Pro2259Ala)
11g.121168759C>TCA383036736TBCEL-TECTA,TECTAc.5833C>T (p.Pro1945Ser)
c.5818C>T (p.Pro1940Ser)
c.3125C>T
n.2213C>T
c.6775C>T (p.Pro2259Ser)
11g.121168760C>ACA383036739TBCEL-TECTA,TECTAc.5834C>A (p.Pro1945His)
c.5819C>A (p.Pro1940His)
c.3126C>A
n.2214C>A
c.6776C>A (p.Pro2259His)
 gnomAD v4
11g.121168760C>GCA383036738TBCEL-TECTA,TECTAc.5834C>G (p.Pro1945Arg)
c.5819C>G (p.Pro1940Arg)
c.3126C>G
n.2214C>G
c.6776C>G (p.Pro2259Arg)
11g.121168760C>TCA383036737TBCEL-TECTA,TECTAc.5834C>T (p.Pro1945Leu)
c.5819C>T (p.Pro1940Leu)
c.3126C>T
n.2214C>T
c.6776C>T (p.Pro2259Leu)
11g.121168761T>ACA477383587TBCEL-TECTA,TECTAc.5835T>A (p.Pro1945=)
c.5820T>A (p.Pro1940=)
c.3127T>A
n.2215T>A
c.6777T>A (p.Pro2259=)
11g.121168761T>CCA477383588TBCEL-TECTA,TECTAc.5835T>C (p.Pro1945=)
c.5820T>C (p.Pro1940=)
c.3127T>C
n.2215T>C
c.6777T>C (p.Pro2259=)
11g.121168761T>GCA477383589TBCEL-TECTA,TECTAc.5835T>G (p.Pro1945=)
c.5820T>G (p.Pro1940=)
c.3127T>G
n.2215T>G
c.6777T>G (p.Pro2259=)
11g.121168762T>ACA383036740TBCEL-TECTA,TECTAc.5836T>A (p.Tyr1946Asn)
c.5821T>A (p.Tyr1941Asn)
c.3128T>A
n.2216T>A
c.6778T>A (p.Tyr2260Asn)
11g.121168762T>CCA178113TBCEL-TECTA,TECTAc.5836T>C (p.Tyr1946His)
c.5821T>C (p.Tyr1941His)
c.3128T>C
n.2216T>C
c.6778T>C (p.Tyr2260His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168762T>GCA383036741TBCEL-TECTA,TECTAc.5836T>G (p.Tyr1946Asp)
c.5821T>G (p.Tyr1941Asp)
c.3128T>G
n.2216T>G
c.6778T>G (p.Tyr2260Asp)
11g.121168762T=CA2004752439TBCEL-TECTA,TECTAc.5836T= (p.Tyr1946=)
c.5821T= (p.Tyr1941=)
c.3128T=
n.2216T=
c.6778T= (p.Tyr2260=)
11g.121168763A>CCA383036742TBCEL-TECTA,TECTAc.5837A>C (p.Tyr1946Ser)
c.5822A>C (p.Tyr1941Ser)
c.3129A>C
n.2217A>C
c.6779A>C (p.Tyr2260Ser)
11g.121168763A>GCA383036743TBCEL-TECTA,TECTAc.5837A>G (p.Tyr1946Cys)
c.5822A>G (p.Tyr1941Cys)
c.3129A>G
n.2217A>G
c.6779A>G (p.Tyr2260Cys)
11g.121168763A>TCA383036744TBCEL-TECTA,TECTAc.5837A>T (p.Tyr1946Phe)
c.5822A>T (p.Tyr1941Phe)
c.3129A>T
n.2217A>T
c.6779A>T (p.Tyr2260Phe)
11g.121168764C>ACA383036745TBCEL-TECTA,TECTAc.5838C>A (p.Tyr1946Ter)
c.5823C>A (p.Tyr1941Ter)
c.3130C>A
n.2218C>A
c.6780C>A (p.Tyr2260Ter)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121168764C=CA2004752443TBCEL-TECTA,TECTAc.5838C= (p.Tyr1946=)
c.5823C= (p.Tyr1941=)
c.3130C=
n.2218C=
c.6780C= (p.Tyr2260=)
11g.121168764C>GCA383036746TBCEL-TECTA,TECTAc.5838C>G (p.Tyr1946Ter)
c.5823C>G (p.Tyr1941Ter)
c.3130C>G
n.2218C>G
c.6780C>G (p.Tyr2260Ter)
11g.121168764C>TCA229853347TBCEL-TECTA,TECTAc.5838C>T (p.Tyr1946=)
c.5823C>T (p.Tyr1941=)
c.3130C>T
n.2218C>T
c.6780C>T (p.Tyr2260=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168765C>ACA383036747TBCEL-TECTA,TECTAc.5839C>A (p.Arg1947Ser)
c.5824C>A (p.Arg1942Ser)
c.3131C>A
n.2219C>A
c.6781C>A (p.Arg2261Ser)
11g.121168765C=CA2004752449TBCEL-TECTA,TECTAc.5839C= (p.Arg1947=)
c.5824C= (p.Arg1942=)
c.3131C=
n.2219C=
c.6781C= (p.Arg2261=)
11g.121168765C>GCA383036748TBCEL-TECTA,TECTAc.5839C>G (p.Arg1947Gly)
c.5824C>G (p.Arg1942Gly)
c.3131C>G
n.2219C>G
c.6781C>G (p.Arg2261Gly)
11g.121168765C>TCA383036749TBCEL-TECTA,TECTAc.5839C>T (p.Arg1947Cys)
c.5824C>T (p.Arg1942Cys)
c.3131C>T
n.2219C>T
c.6781C>T (p.Arg2261Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168766G>ACA6327832TBCEL-TECTA,TECTAc.5840G>A (p.Arg1947His)
c.5825G>A (p.Arg1942His)
c.3132G>A
n.2220G>A
c.6782G>A (p.Arg2261His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168766G>CCA383036750TBCEL-TECTA,TECTAc.5840G>C (p.Arg1947Pro)
c.5825G>C (p.Arg1942Pro)
c.3132G>C
n.2220G>C
c.6782G>C (p.Arg2261Pro)
11g.121168766G=CA2004752456TBCEL-TECTA,TECTAc.5840G= (p.Arg1947=)
c.5825G= (p.Arg1942=)
c.3132G=
n.2220G=
c.6782G= (p.Arg2261=)
11g.121168766G>TCA383036751TBCEL-TECTA,TECTAc.5840G>T (p.Arg1947Leu)
c.5825G>T (p.Arg1942Leu)
c.3132G>T
n.2220G>T
c.6782G>T (p.Arg2261Leu)
 gnomAD v4
11g.121168767C>ACA477383591TBCEL-TECTA,TECTAc.5841C>A (p.Arg1947=)
c.5826C>A (p.Arg1942=)
c.3133C>A
n.2221C>A
c.6783C>A (p.Arg2261=)
 dbSNP
11g.121168767C=CA2004752460TBCEL-TECTA,TECTAc.5841C= (p.Arg1947=)
c.5826C= (p.Arg1942=)
c.3133C=
n.2221C=
c.6783C= (p.Arg2261=)
11g.121168767C>GCA229853356TBCEL-TECTA,TECTAc.5841C>G (p.Arg1947=)
c.5826C>G (p.Arg1942=)
c.3133C>G
n.2221C>G
c.6783C>G (p.Arg2261=)
 dbSNP
11g.121168767C>TCA477383590TBCEL-TECTA,TECTAc.5841C>T (p.Arg1947=)
c.5826C>T (p.Arg1942=)
c.3133C>T
n.2221C>T
c.6783C>T (p.Arg2261=)
 gnomAD v4
11g.121168768C>ACA383036752TBCEL-TECTA,TECTAc.5842C>A (p.Gln1948Lys)
c.5827C>A (p.Gln1943Lys)
c.3134C>A
n.2222C>A
c.6784C>A (p.Gln2262Lys)

Number of alleles fetched